|
NM_001267550.2(TTN):c.36952G>A (p.Val12318Ile)
|
rs762149243
|
0.01857
|
|
NM_001267550.2(TTN):c.30683-2A>T
|
rs886043892
|
0.00604
|
|
NM_001267550.2(TTN):c.34307A>G (p.Lys11436Arg)
|
rs568554504
|
0.00195
|
|
NM_002471.4(MYH6):c.3979-2A>C
|
rs1158854454
|
0.00172
|
|
NM_182961.4(SYNE1):c.4822G>A (p.Ala1608Thr)
|
rs138617999
|
0.00106
|
|
NM_182961.4(SYNE1):c.13909G>A (p.Asp4637Asn)
|
rs142388112
|
0.00105
|
|
NM_001267550.2(TTN):c.81247T>C (p.Ser27083Pro)
|
rs186273940
|
0.00103
|
|
NM_182961.4(SYNE1):c.17827T>C (p.Ser5943Pro)
|
rs147998933
|
0.00101
|
|
NM_182961.4(SYNE1):c.14263C>T (p.Leu4755Phe)
|
rs41301343
|
0.00100
|
|
NM_001267550.2(TTN):c.4396T>C (p.Phe1466Leu)
|
rs151310601
|
0.00089
|
|
NM_015374.3(SUN2):c.424+6C>T
|
rs199843484
|
0.00088
|
|
NM_182961.4(SYNE1):c.25381G>A (p.Glu8461Lys)
|
rs119103248
|
0.00083
|
|
NM_001927.4(DES):c.170C>T (p.Ser57Leu)
|
rs372825868
|
0.00077
|
|
NM_001232.4(CASQ2):c.481A>G (p.Ile161Val)
|
rs146333579
|
0.00076
|
|
NM_002633.3(PGM1):c.572C>T (p.Ser191Leu)
|
rs147971989
|
0.00072
|
|
NM_001267550.2(TTN):c.79226G>A (p.Arg26409His)
|
rs72648206
|
0.00069
|
|
NM_182961.4(SYNE1):c.15907C>T (p.Arg5303Trp)
|
rs149215868
|
0.00067
|
|
NM_000018.4(ACADVL):c.1567G>A (p.Gly523Arg)
|
rs139425622
|
0.00066
|
|
NM_033118.4(MYLK2):c.524C>A (p.Thr175Asn)
|
rs202084078
|
0.00066
|
|
NM_001267550.2(TTN):c.55374C>G (p.Ser18458Arg)
|
rs200550947
|
0.00065
|
|
NM_022114.4(PRDM16):c.2786C>A (p.Pro929His)
|
rs145632008
|
0.00063
|
|
NM_001267550.2(TTN):c.81472C>G (p.Pro27158Ala)
|
rs200771189
|
0.00061
|
|
NM_001943.5(DSG2):c.1003A>G (p.Thr335Ala)
|
rs191564916
|
0.00060
|
|
NM_001267550.2(TTN):c.68824G>A (p.Glu22942Lys)
|
rs199506676
|
0.00059
|
|
NM_001927.4(DES):c.934G>A (p.Asp312Asn)
|
rs34337334
|
0.00059
|
|
NM_000231.3(SGCG):c.58A>G (p.Asn20Asp)
|
rs763248287
|
0.00058
|
|
NM_182961.4(SYNE1):c.1391A>G (p.His464Arg)
|
rs141397112
|
0.00058
|
|
NM_182961.4(SYNE1):c.3074A>T (p.Asp1025Val)
|
rs143093185
|
0.00058
|
|
NM_182961.4(SYNE1):c.3536A>C (p.Glu1179Ala)
|
rs117461489
|
0.00057
|
|
NM_182914.3(SYNE2):c.8003T>G (p.Leu2668Trp)
|
rs143558316
|
0.00056
|
|
NM_000256.3(MYBPC3):c.13G>C (p.Gly5Arg)
|
rs201278114
|
0.00055
|
|
NM_182961.4(SYNE1):c.10396C>G (p.Leu3466Val)
|
rs150637898
|
0.00055
|
|
NM_001267550.2(TTN):c.83171T>G (p.Val27724Gly)
|
rs201896662
|
0.00054
|
|
NM_001943.5(DSG2):c.44T>A (p.Leu15Gln)
|
rs372174546
|
0.00054
|
|
NM_182961.4(SYNE1):c.15337G>A (p.Val5113Ile)
|
rs139170018
|
0.00054
|
|
NM_001267550.2(TTN):c.102657T>A (p.Ser34219Arg)
|
rs370077023
|
0.00053
|
|
NM_001267550.2(TTN):c.18172C>T (p.Arg6058Cys)
|
rs189127014
|
0.00053
|
|
NM_006440.5(TXNRD2):c.1174T>C (p.Tyr392His)
|
rs201971987
|
0.00052
|
|
NM_032578.4(MYPN):c.3833G>A (p.Arg1278Gln)
|
rs142877365
|
0.00052
|
|
NM_182961.4(SYNE1):c.5125C>A (p.Gln1709Lys)
|
rs140005424
|
0.00052
|
|
NM_001267550.2(TTN):c.57370G>A (p.Val19124Ile)
|
rs142841000
|
0.00051
|
|
NM_003673.4(TCAP):c.313G>C (p.Glu105Gln)
|
rs146906267
|
0.00051
|
|
NM_182961.4(SYNE1):c.9394A>G (p.Ser3132Gly)
|
rs138481762
|
0.00051
|
|
NM_182961.4(SYNE1):c.5360A>G (p.Glu1787Gly)
|
rs201366911
|
0.00050
|
|
NM_001267550.2(TTN):c.51809G>T (p.Ser17270Ile)
|
rs200650668
|
0.00049
|
|
NM_001267550.2(TTN):c.57808G>C (p.Val19270Leu)
|
rs369440319
|
0.00049
|
|
NM_182961.4(SYNE1):c.16850G>A (p.Arg5617Gln)
|
rs141550859
|
0.00049
|
|
NM_001130965.3(SUN1):c.1732G>T (p.Val578Leu)
|
rs201804636
|
0.00048
|
|
NM_001130965.3(SUN1):c.728C>T (p.Ser243Leu)
|
rs372849423
|
0.00048
|
|
NM_001267550.2(TTN):c.95270T>C (p.Ile31757Thr)
|
rs72648259
|
0.00048
|
|
NM_021167.5(GATAD1):c.604G>A (p.Ala202Thr)
|
rs564747350
|
0.00048
|
|
NM_001130965.3(SUN1):c.179C>T (p.Thr60Met)
|
rs112200342
|
0.00047
|
|
NM_001130965.3(SUN1):c.1861G>A (p.Gly621Ser)
|
rs145337558
|
0.00046
|
|
NM_001267550.2(TTN):c.18550G>A (p.Ala6184Thr)
|
rs72648947
|
0.00046
|
|
NM_001267550.2(TTN):c.37408G>T (p.Val12470Leu)
|
rs398124448
|
0.00046
|
|
NM_001267550.2(TTN):c.47767G>A (p.Gly15923Arg)
|
rs371943746
|
0.00046
|
|
NM_001267550.2(TTN):c.88028G>A (p.Arg29343His)
|
rs73036368
|
0.00046
|
|
NM_182961.4(SYNE1):c.21002A>G (p.Lys7001Arg)
|
rs145075161
|
0.00046
|
|
NM_182961.4(SYNE1):c.976T>C (p.Trp326Arg)
|
rs146668256
|
0.00046
|
|
NM_001267550.2(TTN):c.100400T>G (p.Val33467Gly)
|
rs200166942
|
0.00045
|
|
NM_001267550.2(TTN):c.84148A>G (p.Ile28050Val)
|
rs201348580
|
0.00045
|
|
NM_002633.3(PGM1):c.1143C>T (p.Thr381=)
|
rs140035988
|
0.00045
|
|
NM_022114.4(PRDM16):c.2576C>T (p.Ser859Leu)
|
rs370046582
|
0.00045
|
|
NM_182961.4(SYNE1):c.24488T>C (p.Ile8163Thr)
|
rs139643725
|
0.00045
|
|
NM_001267550.2(TTN):c.66172C>T (p.Arg22058Cys)
|
rs199643269
|
0.00044
|
|
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys)
|
rs121964857
|
0.00044
|
|
NM_006073.4(TRDN):c.1895G>A (p.Arg632Lys)
|
rs181571822
|
0.00044
|
|
NM_006393.3(NEBL):c.277A>G (p.Ile93Val)
|
rs762884881
|
0.00044
|
|
NM_001267550.2(TTN):c.34571G>A (p.Arg11524Gln)
|
rs201622536
|
0.00043
|
|
NM_001267550.2(TTN):c.41521G>A (p.Asp13841Asn)
|
rs201257644
|
0.00043
|
|
NM_182914.3(SYNE2):c.7976G>A (p.Arg2659Gln)
|
rs199561218
|
0.00043
|
|
NM_182961.4(SYNE1):c.21149G>A (p.Arg7050Gln)
|
rs143639400
|
0.00043
|
|
NM_001267550.2(TTN):c.21548G>A (p.Cys7183Tyr)
|
rs189951108
|
0.00042
|
|
NM_001267550.2(TTN):c.49413G>T (p.Trp16471Cys)
|
rs202094100
|
0.00042
|
|
NM_001267550.2(TTN):c.57442A>G (p.Met19148Val)
|
rs188185141
|
0.00042
|
|
NM_182961.4(SYNE1):c.23260G>A (p.Val7754Ile)
|
rs150550013
|
0.00042
|
|
NM_000232.5(SGCB):c.943G>A (p.Gly315Arg)
|
rs150395645
|
0.00041
|
|
NM_001161403.3(LIMS2):c.12-6748A>G
|
rs968524490
|
0.00041
|
|
NM_001267550.2(TTN):c.71036G>A (p.Arg23679Lys)
|
rs200144345
|
0.00041
|
|
NM_001267550.2(TTN):c.99901G>A (p.Glu33301Lys)
|
rs72648278
|
0.00041
|
|
NM_002471.4(MYH6):c.4193G>A (p.Arg1398Gln)
|
rs150815925
|
0.00041
|
|
NM_006073.4(TRDN):c.1193A>T (p.Glu398Val)
|
rs374355537
|
0.00041
|
|
NM_015374.3(SUN2):c.166G>C (p.Ala56Pro)
|
rs137966643
|
0.00041
|
|
NM_015374.3(SUN2):c.2057C>T (p.Thr686Met)
|
rs150292176
|
0.00041
|
|
NM_182961.4(SYNE1):c.22913G>A (p.Gly7638Asp)
|
rs142117628
|
0.00041
|
|
NM_182961.4(SYNE1):c.25751A>C (p.Asp8584Ala)
|
rs41291047
|
0.00041
|
|
NM_182961.4(SYNE1):c.2728A>G (p.Ser910Gly)
|
rs141214076
|
0.00041
|
|
NM_001267550.2(TTN):c.34294C>T (p.Pro11432Ser)
|
rs534339525
|
0.00040
|
|
NM_001267550.2(TTN):c.81899G>A (p.Arg27300His)
|
rs55850344
|
0.00040
|
|
NM_001267550.2(TTN):c.97538G>A (p.Arg32513His)
|
rs201080904
|
0.00040
|
|
NM_182961.4(SYNE1):c.14501G>A (p.Arg4834Gln)
|
rs141883764
|
0.00040
|
|
NM_000231.3(SGCG):c.157C>T (p.Leu53Phe)
|
rs138880406
|
0.00039
|
|
NM_001130965.3(SUN1):c.733C>G (p.Leu245Val)
|
rs377094306
|
0.00039
|
|
NM_001267550.2(TTN):c.17224C>T (p.Leu5742Phe)
|
rs72648943
|
0.00039
|
|
NM_020433.5(JPH2):c.692G>A (p.Arg231Gln)
|
rs761591158
|
0.00039
|
|
NM_182961.4(SYNE1):c.181G>A (p.Val61Ile)
|
rs151156420
|
0.00039
|
|
NM_000018.4(ACADVL):c.1894C>T (p.Arg632Cys)
|
rs151254520
|
0.00038
|
|
NM_000152.5(GAA):c.752C>T (p.Ser251Leu)
|
rs200856561
|
0.00038
|
|
NM_000432.4(MYL2):c.141C>A (p.Asn47Lys)
|
rs199474808
|
0.00038
|
|
NM_001161403.3(LIMS2):c.882C>A (p.Asn294Lys)
|
rs149101001
|
0.00038
|
|
NM_020433.5(JPH2):c.1204G>A (p.Glu402Lys)
|
rs147407445
|
0.00038
|
|
NM_182961.4(SYNE1):c.12391G>T (p.Gly4131Cys)
|
rs139139296
|
0.00038
|
|
NM_000231.3(SGCG):c.716C>T (p.Ala239Val)
|
rs149086397
|
0.00036
|
|
NM_001267550.2(TTN):c.9488G>A (p.Arg3163His)
|
rs149755500
|
0.00036
|
|
NM_002230.4(JUP):c.1366G>A (p.Val456Ile)
|
rs78437817
|
0.00036
|
|
NM_182914.3(SYNE2):c.15857A>G (p.Tyr5286Cys)
|
rs149354607
|
0.00036
|
|
NM_000018.4(ACADVL):c.286G>A (p.Glu96Lys)
|
rs139427392
|
0.00035
|
|
NM_001267550.2(TTN):c.57212T>C (p.Ile19071Thr)
|
rs200001206
|
0.00035
|
|
NM_001267550.2(TTN):c.63577C>T (p.Arg21193Cys)
|
rs376800688
|
0.00035
|
|
NM_001267550.2(TTN):c.78892G>A (p.Gly26298Arg)
|
rs72648205
|
0.00035
|
|
NM_001267550.2(TTN):c.88090G>A (p.Gly29364Ser)
|
rs183013408
|
0.00035
|
|
NM_022114.4(PRDM16):c.1093G>T (p.Ala365Ser)
|
rs200562747
|
0.00035
|
|
NM_182961.4(SYNE1):c.25403G>A (p.Arg8468His)
|
rs143049227
|
0.00035
|
|
NM_182961.4(SYNE1):c.8537T>C (p.Leu2846Ser)
|
rs148242740
|
0.00035
|
|
NM_000018.4(ACADVL):c.587C>T (p.Ala196Val)
|
rs201370388
|
0.00034
|
|
NM_000182.5(HADHA):c.2113G>A (p.Val705Ile)
|
rs146406360
|
0.00034
|
|
NM_000257.4(MYH7):c.4909G>A (p.Ala1637Thr)
|
rs141122361
|
0.00034
|
|
NM_001267550.2(TTN):c.36461C>G (p.Pro12154Arg)
|
rs371580084
|
0.00034
|
|
NM_001267550.2(TTN):c.49015C>T (p.Arg16339Trp)
|
rs201793958
|
0.00034
|
|
NM_001267550.2(TTN):c.52536C>G (p.Asn17512Lys)
|
rs199615557
|
0.00034
|
|
NM_001267550.2(TTN):c.53287+6G>A
|
rs149890360
|
0.00034
|
|
NM_001267550.2(TTN):c.60005A>G (p.Asp20002Gly)
|
rs199512049
|
0.00034
|
|
NM_001267550.2(TTN):c.82684T>C (p.Tyr27562His)
|
rs376616067
|
0.00034
|
|
NM_001386795.1(DTNA):c.2039G>A (p.Arg680Gln)
|
rs138143719
|
0.00034
|
|
NM_006073.4(TRDN):c.71T>A (p.Val24Glu)
|
rs201097255
|
0.00034
|
|
NM_012082.4(ZFPM2):c.463A>G (p.Lys155Glu)
|
rs200671886
|
0.00034
|
|
NM_013266.4(CTNNA3):c.2524C>T (p.Arg842Trp)
|
rs199852825
|
0.00034
|
|
NM_144573.4(NEXN):c.613G>A (p.Glu205Lys)
|
rs201447781
|
0.00034
|
|
NM_182961.4(SYNE1):c.11218A>G (p.Thr3740Ala)
|
rs144797744
|
0.00034
|
|
NM_182961.4(SYNE1):c.12970C>T (p.Arg4324Cys)
|
rs142258643
|
0.00034
|
|
NM_182961.4(SYNE1):c.4732C>T (p.Pro1578Ser)
|
rs199769508
|
0.00034
|
|
NM_001267550.2(TTN):c.15986G>A (p.Gly5329Asp)
|
rs202234492
|
0.00033
|
|
NM_001267550.2(TTN):c.31837C>G (p.Pro10613Ala)
|
rs200213832
|
0.00033
|
|
NM_002471.4(MYH6):c.5627A>G (p.Lys1876Arg)
|
rs201919534
|
0.00033
|
|
NM_001267550.2(TTN):c.107753G>A (p.Cys35918Tyr)
|
rs193212275
|
0.00032
|
|
NM_001267550.2(TTN):c.26528C>T (p.Thr8843Met)
|
rs72648990
|
0.00032
|
|
NM_001267550.2(TTN):c.68864G>C (p.Gly22955Ala)
|
rs201381085
|
0.00032
|
|
NM_001267550.2(TTN):c.80425G>A (p.Gly26809Ser)
|
rs369941201
|
0.00032
|
|
NM_182914.3(SYNE2):c.5155A>G (p.Met1719Val)
|
rs189676187
|
0.00032
|
|
NM_182961.4(SYNE1):c.19635G>T (p.Arg6545Ser)
|
rs147143947
|
0.00032
|
|
NM_182961.4(SYNE1):c.24723C>G (p.His8241Gln)
|
rs141586001
|
0.00032
|
|
NM_000231.3(SGCG):c.8G>A (p.Arg3His)
|
rs35105771
|
0.00031
|
|
NM_001130965.3(SUN1):c.335C>T (p.Thr112Met)
|
rs183872262
|
0.00031
|
|
NM_001161403.3(LIMS2):c.752A>G (p.Gln251Arg)
|
rs146422285
|
0.00031
|
|
NM_001232.4(CASQ2):c.1131A>T (p.Glu377Asp)
|
rs148824162
|
0.00031
|
|
NM_001267550.2(TTN):c.1297G>A (p.Val433Ile)
|
rs146000949
|
0.00031
|
|
NM_001267550.2(TTN):c.43690T>A (p.Ser14564Thr)
|
rs181189778
|
0.00031
|
|
NM_001267550.2(TTN):c.53159T>C (p.Ile17720Thr)
|
rs201358641
|
0.00031
|
|
NM_001267550.2(TTN):c.67706G>A (p.Arg22569Gln)
|
rs185620750
|
0.00031
|
|
NM_001267550.2(TTN):c.84640A>G (p.Met28214Val)
|
rs72648221
|
0.00031
|
|
NM_003803.4(MYOM1):c.1736C>T (p.Ser579Phe)
|
rs185573271
|
0.00031
|
|
NM_004415.4(DSP):c.273+5G>A
|
rs200473206
|
0.00031
|
|
NM_013266.4(CTNNA3):c.880G>A (p.Glu294Lys)
|
rs146475470
|
0.00031
|
|
NM_014908.4(DOLK):c.1394G>A (p.Arg465His)
|
rs148930043
|
0.00031
|
|
NM_182914.3(SYNE2):c.13570G>A (p.Glu4524Lys)
|
rs143646847
|
0.00031
|
|
NM_182961.4(SYNE1):c.4189G>A (p.Glu1397Lys)
|
rs149918889
|
0.00031
|
|
NM_182961.4(SYNE1):c.9091A>G (p.Arg3031Gly)
|
rs144643941
|
0.00031
|
|
NM_001267550.2(TTN):c.66673G>A (p.Asp22225Asn)
|
rs72646870
|
0.00030
|
|
NM_001267550.2(TTN):c.80263T>C (p.Phe26755Leu)
|
rs200181804
|
0.00030
|
|
NM_001267550.2(TTN):c.90991C>T (p.Pro30331Ser)
|
rs75022916
|
0.00030
|
|
NM_002471.4(MYH6):c.292G>A (p.Glu98Lys)
|
rs140596256
|
0.00030
|
|
NM_182914.3(SYNE2):c.11047T>A (p.Ser3683Thr)
|
rs199977941
|
0.00030
|
|
NM_182961.4(SYNE1):c.21782G>A (p.Arg7261Gln)
|
rs61742716
|
0.00030
|
|
NM_182961.4(SYNE1):c.6920C>T (p.Thr2307Ile)
|
rs141049001
|
0.00030
|
|
NM_000232.5(SGCB):c.151C>T (p.Arg51Cys)
|
rs144743676
|
0.00029
|
|
NM_000432.4(MYL2):c.401A>C (p.Glu134Ala)
|
rs143139258
|
0.00029
|
|
NM_001042475.3(CEP85L):c.1020+17275G>C
|
rs188578681
|
0.00029
|
|
NM_001267550.2(TTN):c.102190G>A (p.Ala34064Thr)
|
rs200237973
|
0.00029
|
|
NM_001267550.2(TTN):c.103417G>A (p.Val34473Ile)
|
rs188917199
|
0.00029
|
|
NM_001267550.2(TTN):c.2686G>A (p.Val896Ile)
|
rs376768790
|
0.00029
|
|
NM_001267550.2(TTN):c.28733C>T (p.Thr9578Met)
|
rs184923756
|
0.00029
|
|
NM_001267550.2(TTN):c.30485C>T (p.Thr10162Met)
|
rs200593368
|
0.00029
|
|
NM_001267550.2(TTN):c.62317C>A (p.Leu20773Met)
|
rs375173874
|
0.00029
|
|
NM_001267550.2(TTN):c.74602A>G (p.Ile24868Val)
|
rs72646898
|
0.00029
|
|
NM_001267550.2(TTN):c.835C>T (p.Arg279Trp)
|
rs138060032
|
0.00029
|
|
NM_001267550.2(TTN):c.88720C>T (p.Arg29574Cys)
|
rs200513274
|
0.00029
|
|
NM_003803.4(MYOM1):c.1052G>A (p.Arg351Gln)
|
rs369420540
|
0.00029
|
|
NM_012082.4(ZFPM2):c.2969G>A (p.Ser990Asn)
|
rs201707218
|
0.00029
|
|
NM_022114.4(PRDM16):c.2281G>A (p.Ala761Thr)
|
rs200947814
|
0.00029
|
|
NM_022114.4(PRDM16):c.2618G>A (p.Arg873Gln)
|
rs184929979
|
0.00029
|
|
NM_144573.4(NEXN):c.1788T>G (p.Ser596Arg)
|
rs199738750
|
0.00029
|
|
NM_182914.3(SYNE2):c.18232G>A (p.Ala6078Thr)
|
rs149128439
|
0.00029
|
|
NM_182961.4(SYNE1):c.19730G>A (p.Arg6577Gln)
|
rs150387338
|
0.00029
|
|
NM_182961.4(SYNE1):c.23C>T (p.Ser8Phe)
|
rs139600654
|
0.00029
|
|
NM_182961.4(SYNE1):c.3271C>T (p.Arg1091Trp)
|
rs147841761
|
0.00029
|
|
NM_182961.4(SYNE1):c.8546T>C (p.Val2849Ala)
|
rs375079396
|
0.00029
|
|
NM_000232.5(SGCB):c.496A>G (p.Ile166Val)
|
rs138877636
|
0.00028
|
|
NM_001267550.2(TTN):c.40903G>A (p.Ala13635Thr)
|
rs191699632
|
0.00028
|
|
NM_001267550.2(TTN):c.62572A>G (p.Thr20858Ala)
|
rs200689750
|
0.00028
|
|
NM_001386795.1(DTNA):c.2108G>A (p.Arg703Gln)
|
rs142009291
|
0.00028
|
|
NM_002471.4(MYH6):c.2401A>G (p.Ile801Val)
|
rs75487328
|
0.00028
|
|
NM_006073.4(TRDN):c.1811C>T (p.Thr604Ile)
|
rs763939252
|
0.00028
|
|
NM_144573.4(NEXN):c.242A>T (p.Asp81Val)
|
rs367871780
|
0.00028
|
|
NM_182961.4(SYNE1):c.5170T>C (p.Phe1724Leu)
|
rs141996707
|
0.00028
|
|
NM_000126.4(ETFA):c.20C>T (p.Pro7Leu)
|
rs557160401
|
0.00027
|
|
NM_000231.3(SGCG):c.235C>T (p.Arg79Cys)
|
rs148404730
|
0.00027
|
|
NM_001267550.2(TTN):c.20792A>G (p.Asn6931Ser)
|
rs200866883
|
0.00027
|
|
NM_001267550.2(TTN):c.61409T>C (p.Ile20470Thr)
|
rs202012910
|
0.00027
|
|
NM_001267550.2(TTN):c.66430G>A (p.Ala22144Thr)
|
rs183276016
|
0.00027
|
|
NM_001267550.2(TTN):c.82402A>C (p.Lys27468Gln)
|
rs201958805
|
0.00027
|
|
NM_001985.3(ETFB):c.709G>A (p.Val237Ile)
|
rs149129214
|
0.00027
|
|
NM_003803.4(MYOM1):c.3904G>A (p.Glu1302Lys)
|
rs370699565
|
0.00027
|
|
NM_182914.3(SYNE2):c.1243G>T (p.Asp415Tyr)
|
rs200836164
|
0.00027
|
|
NM_182914.3(SYNE2):c.4738G>T (p.Val1580Phe)
|
rs190340029
|
0.00027
|
|
NM_182961.4(SYNE1):c.12023C>A (p.Ala4008Asp)
|
rs137985190
|
0.00027
|
|
NM_182961.4(SYNE1):c.7435A>G (p.Lys2479Glu)
|
rs188146577
|
0.00027
|
|
NM_000023.4(SGCA):c.115A>G (p.Thr39Ala)
|
rs540292629
|
0.00026
|
|
NM_001005242.3(PKP2):c.983G>C (p.Gly328Ala)
|
rs144651139
|
0.00026
|
|
NM_001035.3(RYR2):c.12917T>C (p.Phe4306Ser)
|
rs776091285
|
0.00026
|
|
NM_001267550.2(TTN):c.107671G>A (p.Gly35891Ser)
|
rs201298767
|
0.00026
|
|
NM_001267550.2(TTN):c.26849A>G (p.Tyr8950Cys)
|
rs199557654
|
0.00026
|
|
NM_001267550.2(TTN):c.27593A>G (p.Gln9198Arg)
|
rs368297438
|
0.00026
|
|
NM_001267550.2(TTN):c.32792A>C (p.Glu10931Ala)
|
rs370498307
|
0.00026
|
|
NM_001267550.2(TTN):c.3605T>C (p.Val1202Ala)
|
rs150667217
|
0.00026
|
|
NM_001267550.2(TTN):c.46387G>A (p.Gly15463Arg)
|
rs200042932
|
0.00026
|
|
NM_001267550.2(TTN):c.46451G>A (p.Arg15484Lys)
|
rs72677229
|
0.00026
|
|
NM_001267550.2(TTN):c.47513G>A (p.Arg15838Gln)
|
rs199640194
|
0.00026
|
|
NM_001267550.2(TTN):c.48509A>G (p.Asn16170Ser)
|
rs370809363
|
0.00026
|
|
NM_001267550.2(TTN):c.50719A>G (p.Ile16907Val)
|
rs750610895
|
0.00026
|
|
NM_001267550.2(TTN):c.55354T>C (p.Ser18452Pro)
|
rs372541479
|
0.00026
|
|
NM_001267550.2(TTN):c.70492G>A (p.Gly23498Ser)
|
rs370771532
|
0.00026
|
|
NM_001267550.2(TTN):c.78446C>G (p.Thr26149Ser)
|
rs191263181
|
0.00026
|
|
NM_001267550.2(TTN):c.92042C>A (p.Ala30681Asp)
|
rs201400267
|
0.00026
|
|
NM_001985.3(ETFB):c.278C>T (p.Pro93Leu)
|
rs139519507
|
0.00026
|
|
NM_006073.4(TRDN):c.2187G>T (p.Gln729His)
|
rs373439044
|
0.00026
|
|
NM_006270.5(RRAS):c.49G>T (p.Gly17Trp)
|
rs373359206
|
0.00026
|
|
NM_022114.4(PRDM16):c.1882G>A (p.Asp628Asn)
|
rs199895459
|
0.00026
|
|
NM_032578.4(MYPN):c.3818C>T (p.Pro1273Leu)
|
rs148942084
|
0.00026
|
|
NM_145046.5(CALR3):c.787-3C>G
|
rs201265595
|
0.00026
|
|
NM_182914.3(SYNE2):c.10218G>T (p.Leu3406Phe)
|
rs201421128
|
0.00026
|
|
NM_182961.4(SYNE1):c.9605G>A (p.Arg3202His)
|
rs146769373
|
0.00026
|
|
NM_000232.5(SGCB):c.794C>T (p.Thr265Ile)
|
rs116214830
|
0.00025
|
|
NM_000256.3(MYBPC3):c.2873C>T (p.Thr958Ile)
|
rs376504548
|
0.00025
|
|
NM_001267550.2(TTN):c.105482C>A (p.Thr35161Asn)
|
rs372263729
|
0.00025
|
|
NM_001267550.2(TTN):c.19547A>T (p.Lys6516Met)
|
rs199796249
|
0.00025
|
|
NM_001267550.2(TTN):c.84923A>C (p.Gln28308Pro)
|
rs201674674
|
0.00025
|
|
NM_001386795.1(DTNA):c.1270A>G (p.Asn424Asp)
|
rs150679265
|
0.00025
|
|
NM_001386795.1(DTNA):c.316C>G (p.Gln106Glu)
|
rs140768365
|
0.00025
|
|
NM_002471.4(MYH6):c.1048G>A (p.Val350Ile)
|
rs200260629
|
0.00025
|
|
NM_002633.3(PGM1):c.734C>T (p.Ala245Val)
|
rs929270819
|
0.00025
|
|
NM_003803.4(MYOM1):c.1391G>A (p.Arg464Gln)
|
rs370601300
|
0.00025
|
|
NM_003803.4(MYOM1):c.281C>G (p.Ser94Cys)
|
rs761148558
|
0.00025
|
|
NM_014000.3(VCL):c.1294C>G (p.Leu432Val)
|
rs144146254
|
0.00025
|
|
NM_022114.4(PRDM16):c.2666C>T (p.Pro889Leu)
|
rs201814961
|
0.00025
|
|
NM_000152.5(GAA):c.1019A>G (p.Tyr340Cys)
|
rs144857480
|
0.00024
|
|
NM_000152.5(GAA):c.2275G>A (p.Gly759Arg)
|
rs138183791
|
0.00024
|
|
NM_000256.3(MYBPC3):c.1468G>A (p.Gly490Arg)
|
rs200625851
|
0.00024
|
|
NM_000256.3(MYBPC3):c.184A>C (p.Thr62Pro)
|
rs377225516
|
0.00024
|
|
NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn)
|
rs201307101
|
0.00024
|
|
NM_001161403.3(LIMS2):c.233C>A (p.Ser78Tyr)
|
rs181892289
|
0.00024
|
|
NM_001161403.3(LIMS2):c.971C>T (p.Ser324Leu)
|
rs377574169
|
0.00024
|
|
NM_001232.4(CASQ2):c.985C>T (p.Pro329Ser)
|
rs28730713
|
0.00024
|
|
NM_001267550.2(TTN):c.59113C>T (p.Arg19705Cys)
|
rs72646839
|
0.00024
|
|
NM_001267550.2(TTN):c.64811G>A (p.Arg21604Gln)
|
rs188996850
|
0.00024
|
|
NM_001267550.2(TTN):c.88972A>G (p.Ile29658Val)
|
rs200193877
|
0.00024
|
|
NM_001267550.2(TTN):c.91173A>C (p.Glu30391Asp)
|
rs199505541
|
0.00024
|
|
NM_001267550.2(TTN):c.94633C>T (p.Arg31545Cys)
|
rs202187398
|
0.00024
|
|
NM_001386795.1(DTNA):c.1330C>T (p.Arg444Trp)
|
rs199867593
|
0.00024
|
|
NM_012082.4(ZFPM2):c.3086A>T (p.Lys1029Ile)
|
rs201729935
|
0.00024
|
|
NM_013266.4(CTNNA3):c.155C>T (p.Ser52Leu)
|
rs139105272
|
0.00024
|
|
NM_016599.5(MYOZ2):c.146A>G (p.His49Arg)
|
rs148908208
|
0.00024
|
|
NM_022114.4(PRDM16):c.2126T>C (p.Met709Thr)
|
rs201807364
|
0.00024
|
|
NM_032578.4(MYPN):c.2321C>A (p.Ser774Tyr)
|
rs140933016
|
0.00024
|
|
NM_182961.4(SYNE1):c.12225+4G>A
|
rs770448083
|
0.00024
|
|
NM_182961.4(SYNE1):c.16295G>A (p.Arg5432Gln)
|
rs200812806
|
0.00024
|
|
NM_182961.4(SYNE1):c.18091G>A (p.Glu6031Lys)
|
rs142229551
|
0.00024
|
|
NM_182961.4(SYNE1):c.23659G>A (p.Val7887Met)
|
rs143842011
|
0.00024
|
|
NM_182961.4(SYNE1):c.26044G>C (p.Gly8682Arg)
|
rs201664645
|
0.00024
|
|
NM_182961.4(SYNE1):c.4471C>G (p.Gln1491Glu)
|
rs144276162
|
0.00024
|
|
NM_182961.4(SYNE1):c.6382-3C>T
|
rs373663183
|
0.00024
|
|
NM_000152.5(GAA):c.1310G>A (p.Arg437His)
|
rs150868652
|
0.00023
|
|
NM_000232.5(SGCB):c.31C>G (p.Gln11Glu)
|
rs752492870
|
0.00023
|
|
NM_000337.6(SGCD):c.3+3G>C
|
rs573109924
|
0.00023
|
|
NM_001005242.3(PKP2):c.1379-2025G>A
|
rs537458442
|
0.00023
|
|
NM_001105206.3(LAMA4):c.503G>A (p.Arg168Lys)
|
rs200368819
|
0.00023
|
|
NM_001122630.2(CDKN1C):c.319C>G (p.Pro107Ala)
|
rs772684721
|
0.00023
|
|
NM_001267550.2(TTN):c.106675G>C (p.Glu35559Gln)
|
rs199632397
|
0.00023
|
|
NM_001267550.2(TTN):c.34354G>A (p.Val11452Met)
|
rs938988662
|
0.00023
|
|
NM_001267550.2(TTN):c.6584A>G (p.Glu2195Gly)
|
rs202032875
|
0.00023
|
|
NM_001267550.2(TTN):c.94553T>C (p.Val31518Ala)
|
rs377016580
|
0.00023
|
|
NM_001267550.2(TTN):c.95722T>C (p.Tyr31908His)
|
rs199781261
|
0.00023
|
|
NM_001267550.2(TTN):c.98726T>C (p.Val32909Ala)
|
rs368877793
|
0.00023
|
|
NM_003803.4(MYOM1):c.3109G>A (p.Ala1037Thr)
|
rs199817096
|
0.00023
|
|
NM_006440.5(TXNRD2):c.77T>G (p.Val26Gly)
|
rs925920723
|
0.00023
|
|
NM_182961.4(SYNE1):c.21029T>A (p.Val7010Glu)
|
rs141275966
|
0.00023
|
|
NM_182961.4(SYNE1):c.9377C>G (p.Ser3126Cys)
|
rs139089832
|
0.00023
|
|
NM_001005242.3(PKP2):c.302G>A (p.Arg101His)
|
rs149542398
|
0.00022
|
|
NM_001105206.3(LAMA4):c.4645A>T (p.Asn1549Tyr)
|
rs141261442
|
0.00022
|
|
NM_001105206.3(LAMA4):c.578C>T (p.Ser193Leu)
|
rs147870828
|
0.00022
|
|
NM_001267550.2(TTN):c.104519G>A (p.Arg34840Gln)
|
rs199710082
|
0.00022
|
|
NM_001267550.2(TTN):c.107230A>G (p.Ile35744Val)
|
rs142336788
|
0.00022
|
|
NM_001267550.2(TTN):c.17129G>A (p.Arg5710Gln)
|
rs200018866
|
0.00022
|
|
NM_001267550.2(TTN):c.19016A>G (p.Tyr6339Cys)
|
rs192553687
|
0.00022
|
|
NM_001267550.2(TTN):c.21721G>A (p.Val7241Ile)
|
rs367854582
|
0.00022
|
|
NM_001267550.2(TTN):c.28829G>A (p.Ser9610Asn)
|
rs371759532
|
0.00022
|
|
NM_001267550.2(TTN):c.32026A>G (p.Lys10676Glu)
|
rs200952728
|
0.00022
|
|
NM_001267550.2(TTN):c.40123G>A (p.Glu13375Lys)
|
rs988844595
|
0.00022
|
|
NM_001267550.2(TTN):c.70817T>C (p.Met23606Thr)
|
rs371030086
|
0.00022
|
|
NM_001267550.2(TTN):c.87448A>T (p.Ile29150Leu)
|
rs189030321
|
0.00022
|
|
NM_001267550.2(TTN):c.99991T>C (p.Cys33331Arg)
|
rs56061641
|
0.00022
|
|
NM_001985.3(ETFB):c.541G>A (p.Val181Met)
|
rs148443220
|
0.00022
|
|
NM_002230.4(JUP):c.2207C>T (p.Pro736Leu)
|
rs151178348
|
0.00022
|
|
NM_002471.4(MYH6):c.4772A>G (p.Asn1591Ser)
|
rs200751434
|
0.00022
|
|
NM_003803.4(MYOM1):c.2848A>G (p.Met950Val)
|
rs184774935
|
0.00022
|
|
NM_014000.3(VCL):c.787A>T (p.Thr263Ser)
|
rs142233726
|
0.00022
|
|
NM_032578.4(MYPN):c.2725G>A (p.Glu909Lys)
|
rs1371494498
|
0.00022
|
|
NM_182914.3(SYNE2):c.13417C>T (p.Pro4473Ser)
|
rs146894065
|
0.00022
|
|
NM_182914.3(SYNE2):c.7708G>A (p.Glu2570Lys)
|
rs376507352
|
0.00022
|
|
NM_182914.3(SYNE2):c.9241C>T (p.Arg3081Trp)
|
rs150085946
|
0.00022
|
|
NM_182961.4(SYNE1):c.6428A>G (p.Asp2143Gly)
|
rs189734757
|
0.00022
|
|
NM_000018.4(ACADVL):c.121G>A (p.Ala41Thr)
|
rs367705640
|
0.00021
|
|
NM_000256.3(MYBPC3):c.2728C>A (p.Pro910Thr)
|
rs397515985
|
0.00021
|
|
NM_000256.3(MYBPC3):c.74G>A (p.Ser25Asn)
|
rs371140684
|
0.00021
|
|
NM_001035.3(RYR2):c.2613+4C>G
|
rs371880082
|
0.00021
|
|
NM_001103.4(ACTN2):c.1106C>T (p.Ser369Leu)
|
rs747400815
|
0.00021
|
|
NM_001161403.3(LIMS2):c.605G>A (p.Arg202His)
|
rs148420126
|
0.00021
|
|
NM_001267550.2(TTN):c.17116G>A (p.Glu5706Lys)
|
rs376593556
|
0.00021
|
|
NM_001267550.2(TTN):c.31645A>G (p.Ile10549Val)
|
rs376613199
|
0.00021
|
|
NM_001267550.2(TTN):c.39301G>A (p.Glu13101Lys)
|
rs201035457
|
0.00021
|
|
NM_001267550.2(TTN):c.50850C>A (p.Asp16950Glu)
|
rs200700386
|
0.00021
|
|
NM_001267550.2(TTN):c.55306G>A (p.Glu18436Lys)
|
rs201510986
|
0.00021
|
|
NM_001267550.2(TTN):c.58363G>A (p.Gly19455Ser)
|
rs191927501
|
0.00021
|
|
NM_001267550.2(TTN):c.59026G>T (p.Asp19676Tyr)
|
rs186215280
|
0.00021
|
|
NM_001267550.2(TTN):c.62567A>G (p.Tyr20856Cys)
|
rs373867080
|
0.00021
|
|
NM_001267550.2(TTN):c.7060C>T (p.Arg2354Cys)
|
rs145039979
|
0.00021
|
|
NM_001267550.2(TTN):c.98826C>G (p.Asp32942Glu)
|
rs190967471
|
0.00021
|
|
NM_001927.4(DES):c.166G>C (p.Val56Leu)
|
rs578066781
|
0.00021
|
|
NM_001985.3(ETFB):c.227G>A (p.Arg76His)
|
rs148567433
|
0.00021
|
|
NM_002471.4(MYH6):c.3383G>A (p.Arg1128His)
|
rs376002621
|
0.00021
|
|
NM_003803.4(MYOM1):c.2851G>T (p.Val951Phe)
|
rs573023709
|
0.00021
|
|
NM_004100.5(EYA4):c.987G>T (p.Met329Ile)
|
rs146144708
|
0.00021
|
|
NM_015374.3(SUN2):c.431C>T (p.Ser144Leu)
|
rs143710758
|
0.00021
|
|
NM_024334.3(TMEM43):c.347G>A (p.Arg116Gln)
|
rs143535006
|
0.00021
|
|
NM_032578.4(MYPN):c.952G>A (p.Val318Ile)
|
rs112518450
|
0.00021
|
|
NM_033118.4(MYLK2):c.191G>C (p.Gly64Ala)
|
rs141105787
|
0.00021
|
|
NM_182914.3(SYNE2):c.19823A>T (p.Asp6608Val)
|
rs372546949
|
0.00021
|
|
NM_182914.3(SYNE2):c.5915C>T (p.Pro1972Leu)
|
rs113146258
|
0.00021
|
|
NM_182914.3(SYNE2):c.8632G>A (p.Glu2878Lys)
|
rs61744386
|
0.00021
|
|
NM_182961.4(SYNE1):c.15202A>G (p.Lys5068Glu)
|
rs139805184
|
0.00021
|
|
NM_182961.4(SYNE1):c.17974C>G (p.Pro5992Ala)
|
rs200701182
|
0.00021
|
|
NM_182961.4(SYNE1):c.3669+4C>G
|
rs376511242
|
0.00021
|
|
NM_182961.4(SYNE1):c.3850C>T (p.Arg1284Trp)
|
rs140780725
|
0.00021
|
|
NM_182961.4(SYNE1):c.4477A>G (p.Ile1493Val)
|
rs139544072
|
0.00021
|
|
NM_182961.4(SYNE1):c.8311G>A (p.Val2771Ile)
|
rs374862218
|
0.00021
|
|
NM_000182.5(HADHA):c.2131C>A (p.Pro711Thr)
|
rs138966725
|
0.00020
|
|
NM_001035.3(RYR2):c.1939C>T (p.Arg647Cys)
|
rs202040519
|
0.00020
|
|
NM_001130965.3(SUN1):c.13C>T (p.Arg5Trp)
|
rs149483651
|
0.00020
|
|
NM_001267550.2(TTN):c.102520G>A (p.Val34174Ile)
|
rs200430493
|
0.00020
|
|
NM_001267550.2(TTN):c.13262A>G (p.Asn4421Ser)
|
rs72648922
|
0.00020
|
|
NM_001267550.2(TTN):c.21656C>T (p.Ser7219Phe)
|
rs201029552
|
0.00020
|
|
NM_001267550.2(TTN):c.30389G>A (p.Arg10130His)
|
rs373355159
|
0.00020
|
|
NM_001267550.2(TTN):c.31114G>C (p.Glu10372Gln)
|
rs200831060
|
0.00020
|
|
NM_001267550.2(TTN):c.37193C>T (p.Pro12398Leu)
|
rs570730533
|
0.00020
|
|
NM_001267550.2(TTN):c.48460+5G>A
|
rs374413644
|
0.00020
|
|
NM_001267550.2(TTN):c.58796C>T (p.Thr19599Ile)
|
rs367816473
|
0.00020
|
|
NM_001267550.2(TTN):c.69853G>A (p.Glu23285Lys)
|
rs376870149
|
0.00020
|
|
NM_001267550.2(TTN):c.80555G>A (p.Arg26852His)
|
rs202149931
|
0.00020
|
|
NM_001267550.2(TTN):c.84203G>C (p.Ser28068Thr)
|
rs72648219
|
0.00020
|
|
NM_001267550.2(TTN):c.87623A>T (p.Tyr29208Phe)
|
rs201831707
|
0.00020
|
|
NM_001289808.2(CRYAB):c.116C>T (p.Pro39Leu)
|
rs149787233
|
0.00020
|
|
NM_003803.4(MYOM1):c.4711C>T (p.Arg1571Cys)
|
rs373419422
|
0.00020
|
|
NM_006270.5(RRAS):c.338G>A (p.Arg113Gln)
|
rs766259420
|
0.00020
|
|
NM_006393.3(NEBL):c.2417C>T (p.Thr806Ile)
|
rs200705273
|
0.00020
|
|
NM_013266.4(CTNNA3):c.1574T>C (p.Leu525Ser)
|
rs369650158
|
0.00020
|
|
NM_181703.4(GJA5):c.286G>T (p.Ala96Ser)
|
rs121434557
|
0.00020
|
|
NM_182914.3(SYNE2):c.12377G>C (p.Ser4126Thr)
|
rs113360430
|
0.00020
|
|
NM_182961.4(SYNE1):c.15568C>G (p.Gln5190Glu)
|
rs138368397
|
0.00020
|
|
NM_182961.4(SYNE1):c.22346+6G>T
|
rs368678916
|
0.00020
|
|
NM_000152.5(GAA):c.2395C>T (p.His799Tyr)
|
rs143347747
|
0.00019
|
|
NM_000152.5(GAA):c.913G>A (p.Gly305Arg)
|
rs200154987
|
0.00019
|
|
NM_000256.3(MYBPC3):c.2684G>A (p.Arg895His)
|
rs372628478
|
0.00019
|
|
NM_000256.3(MYBPC3):c.2980C>T (p.Leu994Phe)
|
rs375776406
|
0.00019
|
|
NM_000256.3(MYBPC3):c.461T>C (p.Ile154Thr)
|
rs373946195
|
0.00019
|
|
NM_000371.4(TTR):c.368G>A (p.Arg123His)
|
rs148538950
|
0.00019
|
|
NM_001105206.3(LAMA4):c.668G>A (p.Arg223His)
|
rs200017155
|
0.00019
|
|
NM_001122630.2(CDKN1C):c.367G>C (p.Glu123Gln)
|
rs1013695050
|
0.00019
|
|
NM_001130965.3(SUN1):c.362C>G (p.Thr121Ser)
|
rs541487561
|
0.00019
|
|
NM_001130965.3(SUN1):c.496A>G (p.Ile166Val)
|
rs201949393
|
0.00019
|
|
NM_001267550.2(TTN):c.100295G>A (p.Arg33432His)
|
rs374876608
|
0.00019
|
|
NM_001267550.2(TTN):c.100447G>C (p.Glu33483Gln)
|
rs368321767
|
0.00019
|
|
NM_001267550.2(TTN):c.101281C>T (p.Arg33761Trp)
|
rs201421156
|
0.00019
|
|
NM_001267550.2(TTN):c.104690C>T (p.Ser34897Leu)
|
rs373446383
|
0.00019
|
|
NM_001267550.2(TTN):c.105128G>A (p.Arg35043His)
|
rs370137295
|
0.00019
|
|
NM_001267550.2(TTN):c.105920T>C (p.Val35307Ala)
|
rs780629996
|
0.00019
|
|
NM_001267550.2(TTN):c.14486A>C (p.Gln4829Pro)
|
rs375177753
|
0.00019
|
|
NM_001267550.2(TTN):c.17871A>T (p.Gln5957His)
|
rs181067357
|
0.00019
|
|
NM_001267550.2(TTN):c.3133G>A (p.Val1045Met)
|
rs72647868
|
0.00019
|
|
NM_001267550.2(TTN):c.31922C>T (p.Pro10641Leu)
|
rs773886361
|
0.00019
|
|
NM_001267550.2(TTN):c.32780A>G (p.Lys10927Arg)
|
rs373657520
|
0.00019
|
|
NM_001267550.2(TTN):c.33856G>A (p.Glu11286Lys)
|
rs376874956
|
0.00019
|
|
NM_001267550.2(TTN):c.52826A>T (p.Gln17609Leu)
|
rs368820294
|
0.00019
|
|
NM_001267550.2(TTN):c.58576G>A (p.Val19526Ile)
|
rs377682563
|
0.00019
|
|
NM_001267550.2(TTN):c.68437G>A (p.Glu22813Lys)
|
rs200797552
|
0.00019
|
|
NM_001267550.2(TTN):c.78064G>A (p.Val26022Ile)
|
rs374764110
|
0.00019
|
|
NM_001267550.2(TTN):c.78914C>G (p.Ser26305Cys)
|
rs199646089
|
0.00019
|
|
NM_001267550.2(TTN):c.86723A>G (p.Asn28908Ser)
|
rs377612718
|
0.00019
|
|
NM_001267550.2(TTN):c.89314G>A (p.Glu29772Lys)
|
rs200503016
|
0.00019
|
|
NM_001267550.2(TTN):c.95450T>C (p.Val31817Ala)
|
rs758207460
|
0.00019
|
|
NM_001927.4(DES):c.635G>A (p.Arg212Gln)
|
rs144261171
|
0.00019
|
|
NM_002230.4(JUP):c.2069A>G (p.Asn690Ser)
|
rs147628503
|
0.00019
|
|
NM_002471.4(MYH6):c.3598G>C (p.Asp1200His)
|
rs372794975
|
0.00019
|
|
NM_002471.4(MYH6):c.4328C>A (p.Ala1443Asp)
|
rs727503234
|
0.00019
|
|
NM_003803.4(MYOM1):c.3097G>A (p.Glu1033Lys)
|
rs377512048
|
0.00019
|
|
NM_004100.5(EYA4):c.1495G>A (p.Val499Ile)
|
rs142122118
|
0.00019
|
|
NM_004517.4(ILK):c.130G>C (p.Glu44Gln)
|
rs145039481
|
0.00019
|
|
NM_006073.4(TRDN):c.1537+1G>A
|
rs189125299
|
0.00019
|
|
NM_006393.3(NEBL):c.14T>C (p.Val5Ala)
|
rs145770601
|
0.00019
|
|
NM_006393.3(NEBL):c.1837C>T (p.Arg613Ter)
|
rs146471913
|
0.00019
|
|
NM_006440.5(TXNRD2):c.221C>G (p.Ser74Cys)
|
rs200942544
|
0.00019
|
|
NM_006440.5(TXNRD2):c.662C>T (p.Thr221Met)
|
rs188258380
|
0.00019
|
|
NM_014000.3(VCL):c.2969C>T (p.Ala990Val)
|
rs150595117
|
0.00019
|
|
NM_015374.3(SUN2):c.1139C>A (p.Ala380Asp)
|
rs143302352
|
0.00019
|
|
NM_015374.3(SUN2):c.1508C>T (p.Ser503Leu)
|
rs145490494
|
0.00019
|
|
NM_181703.4(GJA5):c.793C>T (p.Pro265Ser)
|
rs148311482
|
0.00019
|
|
NM_182914.3(SYNE2):c.12370G>T (p.Val4124Leu)
|
rs370255444
|
0.00019
|
|
NM_182914.3(SYNE2):c.15929T>C (p.Leu5310Ser)
|
rs199976741
|
0.00019
|
|
NM_182914.3(SYNE2):c.20509G>A (p.Glu6837Lys)
|
rs146398606
|
0.00019
|
|
NM_182914.3(SYNE2):c.2477A>G (p.Asn826Ser)
|
rs372150492
|
0.00019
|
|
NM_182961.4(SYNE1):c.10003A>G (p.Ile3335Val)
|
rs150814357
|
0.00019
|
|
NM_182961.4(SYNE1):c.10475G>A (p.Arg3492His)
|
rs148522587
|
0.00019
|
|
NM_182961.4(SYNE1):c.13768A>G (p.Asn4590Asp)
|
rs199761238
|
0.00019
|
|
NM_182961.4(SYNE1):c.21822T>G (p.Ile7274Met)
|
rs770171807
|
0.00019
|
|
NM_182961.4(SYNE1):c.23216C>A (p.Ser7739Tyr)
|
rs149744490
|
0.00019
|
|
NM_182961.4(SYNE1):c.7045C>T (p.Leu2349Phe)
|
rs370016934
|
0.00019
|
|
NM_001159699.2(FHL1):c.652G>A (p.Ala218Thr)
|
rs752366165
|
0.00018
|
|
NM_001161403.3(LIMS2):c.619G>A (p.Gly207Ser)
|
rs141505120
|
0.00018
|
|
NM_001267550.2(TTN):c.100432T>G (p.Trp33478Gly)
|
rs372304158
|
0.00018
|
|
NM_001267550.2(TTN):c.14232C>A (p.Asp4744Glu)
|
rs55906845
|
0.00018
|
|
NM_001267550.2(TTN):c.26935A>C (p.Asn8979His)
|
rs376982715
|
0.00018
|
|
NM_001267550.2(TTN):c.30511+3G>A
|
rs563582627
|
0.00018
|
|
NM_001267550.2(TTN):c.36847A>C (p.Lys12283Gln)
|
rs1479390801
|
0.00018
|
|
NM_001267550.2(TTN):c.38123-8C>A
|
rs1481421931
|
0.00018
|
|
NM_001267550.2(TTN):c.43577G>A (p.Arg14526Gln)
|
rs373491468
|
0.00018
|
|
NM_001267550.2(TTN):c.55205T>G (p.Ile18402Ser)
|
rs776899398
|
0.00018
|
|
NM_001267550.2(TTN):c.58072C>T (p.Arg19358Cys)
|
rs371973579
|
0.00018
|
|
NM_001267550.2(TTN):c.58971A>C (p.Glu19657Asp)
|
rs200728232
|
0.00018
|
|
NM_001267550.2(TTN):c.83618T>C (p.Val27873Ala)
|
rs200775919
|
0.00018
|
|
NM_001267550.2(TTN):c.84968A>T (p.Tyr28323Phe)
|
rs1285180382
|
0.00018
|
|
NM_001267550.2(TTN):c.96928A>C (p.Thr32310Pro)
|
rs542208825
|
0.00018
|
|
NM_002633.3(PGM1):c.371A>G (p.Asn124Ser)
|
rs367689770
|
0.00018
|
|
NM_022114.4(PRDM16):c.832G>A (p.Gly278Ser)
|
rs375316181
|
0.00018
|
|
NM_024422.6(DSC2):c.2264G>T (p.Gly755Val)
|
rs367990772
|
0.00018
|
|
NM_182914.3(SYNE2):c.10631G>T (p.Ser3544Ile)
|
rs200109813
|
0.00018
|
|
NM_182914.3(SYNE2):c.19034G>A (p.Arg6345Gln)
|
rs141882853
|
0.00018
|
|
NM_182914.3(SYNE2):c.2425A>G (p.Thr809Ala)
|
rs374684922
|
0.00018
|
|
NM_182961.4(SYNE1):c.1186C>G (p.Leu396Val)
|
rs138350962
|
0.00018
|
|
NM_182961.4(SYNE1):c.15863G>C (p.Gly5288Ala)
|
rs201313856
|
0.00018
|
|
NM_182961.4(SYNE1):c.5713A>G (p.Ile1905Val)
|
rs143467834
|
0.00018
|
|
NM_000023.4(SGCA):c.172G>C (p.Val58Leu)
|
rs141953249
|
0.00017
|
|
NM_000152.5(GAA):c.1320G>T (p.Met440Ile)
|
rs550837627
|
0.00017
|
|
NM_000256.3(MYBPC3):c.3415G>A (p.Val1139Ile)
|
rs373519667
|
0.00017
|
|
NM_000371.4(TTR):c.14G>A (p.Arg5His)
|
rs138657343
|
0.00017
|
|
NM_001005242.3(PKP2):c.928G>A (p.Val310Met)
|
rs768396351
|
0.00017
|
|
NM_001130965.3(SUN1):c.1216G>A (p.Gly406Arg)
|
rs201437034
|
0.00017
|
|
NM_001130965.3(SUN1):c.535G>A (p.Ala179Thr)
|
rs200430189
|
0.00017
|
|
NM_001130965.3(SUN1):c.695C>T (p.Ala232Val)
|
rs181988140
|
0.00017
|
|
NM_001159699.2(FHL1):c.409G>A (p.Val137Ile)
|
rs139402062
|
0.00017
|
|
NM_001267550.2(TTN):c.14533G>A (p.Asp4845Asn)
|
rs373378672
|
0.00017
|
|
NM_001267550.2(TTN):c.22439A>C (p.Gln7480Pro)
|
rs201065037
|
0.00017
|
|
NM_001267550.2(TTN):c.30513A>T (p.Glu10171Asp)
|
rs577066020
|
0.00017
|
|
NM_001267550.2(TTN):c.40352C>A (p.Pro13451His)
|
rs370048456
|
0.00017
|
|
NM_001267550.2(TTN):c.50212G>A (p.Glu16738Lys)
|
rs148018042
|
0.00017
|
|
NM_001267550.2(TTN):c.51683C>T (p.Ala17228Val)
|
rs370644359
|
0.00017
|
|
NM_001267550.2(TTN):c.54718G>A (p.Val18240Ile)
|
rs375141729
|
0.00017
|
|
NM_001267550.2(TTN):c.58727G>A (p.Arg19576His)
|
rs771668359
|
0.00017
|
|
NM_001267550.2(TTN):c.76402G>T (p.Val25468Leu)
|
rs200308639
|
0.00017
|
|
NM_001267550.2(TTN):c.89936C>T (p.Thr29979Ile)
|
rs779619858
|
0.00017
|
|
NM_003673.4(TCAP):c.187C>T (p.Arg63Cys)
|
rs758048577
|
0.00017
|
|
NM_003803.4(MYOM1):c.3863C>T (p.Pro1288Leu)
|
rs200808890
|
0.00017
|
|
NM_006073.4(TRDN):c.419A>G (p.Lys140Arg)
|
rs200953683
|
0.00017
|
|
NM_015374.3(SUN2):c.26C>T (p.Thr9Met)
|
rs149995796
|
0.00017
|
|
NM_020297.4(ABCC9):c.4512+690C>T
|
rs397517191
|
0.00017
|
|
NM_020433.5(JPH2):c.1852A>G (p.Thr618Ala)
|
rs376612687
|
0.00017
|
|
NM_022114.4(PRDM16):c.2566G>A (p.Ala856Thr)
|
rs377029492
|
0.00017
|
|
NM_024334.3(TMEM43):c.361A>G (p.Met121Val)
|
rs369878538
|
0.00017
|
|
NM_182914.3(SYNE2):c.14139+5G>A
|
rs374778697
|
0.00017
|
|
NM_182914.3(SYNE2):c.19136G>A (p.Arg6379His)
|
rs150629598
|
0.00017
|
|
NM_182914.3(SYNE2):c.5242G>A (p.Ala1748Thr)
|
rs768694081
|
0.00017
|
|
NM_182961.4(SYNE1):c.16831C>T (p.Arg5611Trp)
|
rs369292604
|
0.00017
|
|
NM_000023.4(SGCA):c.929A>G (p.Tyr310Cys)
|
rs145252144
|
0.00016
|
|
NM_000182.5(HADHA):c.325G>A (p.Ala109Thr)
|
rs368388214
|
0.00016
|
|
NM_000231.3(SGCG):c.196-3C>T
|
rs765273430
|
0.00016
|
|
NM_000231.3(SGCG):c.596G>A (p.Arg199Gln)
|
rs200191311
|
0.00016
|
|
NM_000256.3(MYBPC3):c.1321G>A (p.Glu441Lys)
|
rs193922377
|
0.00016
|
|
NM_000256.3(MYBPC3):c.2210C>T (p.Thr737Met)
|
rs199893357
|
0.00016
|
|
NM_000337.6(SGCD):c.92G>A (p.Arg31Gln)
|
rs200476861
|
0.00016
|
|
NM_001005242.3(PKP2):c.1888G>A (p.Val630Met)
|
rs143038626
|
0.00016
|
|
NM_001005242.3(PKP2):c.1951C>T (p.Arg651Cys)
|
rs199583774
|
0.00016
|
|
NM_001005242.3(PKP2):c.307C>A (p.Pro103Thr)
|
rs139215336
|
0.00016
|
|
NM_001035.3(RYR2):c.8145G>T (p.Glu2715Asp)
|
rs200420897
|
0.00016
|
|
NM_001134363.3(RBM20):c.2551G>A (p.Ala851Thr)
|
rs376071070
|
0.00016
|
|
NM_001232.4(CASQ2):c.1087G>A (p.Glu363Lys)
|
rs1193520667
|
0.00016
|
|
NM_001267550.2(TTN):c.100049C>T (p.Thr33350Ile)
|
rs370300135
|
0.00016
|
|
NM_001267550.2(TTN):c.102121G>A (p.Glu34041Lys)
|
rs377600383
|
0.00016
|
|
NM_001267550.2(TTN):c.102877A>G (p.Lys34293Glu)
|
rs72629783
|
0.00016
|
|
NM_001267550.2(TTN):c.10535T>C (p.Val3512Ala)
|
rs200918396
|
0.00016
|
|
NM_001267550.2(TTN):c.106955G>A (p.Arg35652Gln)
|
rs200497615
|
0.00016
|
|
NM_001267550.2(TTN):c.12011A>G (p.Glu4004Gly)
|
rs376000381
|
0.00016
|
|
NM_001267550.2(TTN):c.12145C>T (p.Pro4049Ser)
|
rs201888760
|
0.00016
|
|
NM_001267550.2(TTN):c.12332C>G (p.Ala4111Gly)
|
rs140289517
|
0.00016
|
|
NM_001267550.2(TTN):c.28741A>G (p.Ile9581Val)
|
rs371826762
|
0.00016
|
|
NM_001267550.2(TTN):c.33367G>A (p.Ala11123Thr)
|
rs200321239
|
0.00016
|
|
NM_001267550.2(TTN):c.36644C>T (p.Pro12215Leu)
|
rs367720476
|
0.00016
|
|
NM_001267550.2(TTN):c.42891C>T (p.Gly14297=)
|
rs550471556
|
0.00016
|
|
NM_001267550.2(TTN):c.4291C>T (p.Arg1431Trp)
|
rs139636676
|
0.00016
|
|
NM_001267550.2(TTN):c.43315C>T (p.Arg14439Cys)
|
rs200914097
|
0.00016
|
|
NM_001267550.2(TTN):c.45979C>T (p.Arg15327Cys)
|
rs367774903
|
0.00016
|
|
NM_001267550.2(TTN):c.51782G>A (p.Arg17261Gln)
|
rs201825412
|
0.00016
|
|
NM_001267550.2(TTN):c.52853G>A (p.Arg17618His)
|
rs371538664
|
0.00016
|
|
NM_001267550.2(TTN):c.54490T>C (p.Tyr18164His)
|
rs370135374
|
0.00016
|
|
NM_001267550.2(TTN):c.55673G>A (p.Arg18558His)
|
rs115867512
|
0.00016
|
|
NM_001267550.2(TTN):c.60734G>A (p.Arg20245Gln)
|
rs575837567
|
0.00016
|
|
NM_001267550.2(TTN):c.63109C>T (p.Arg21037Cys)
|
rs191549948
|
0.00016
|
|
NM_001267550.2(TTN):c.66491A>T (p.Lys22164Ile)
|
rs371081043
|
0.00016
|
|
NM_001267550.2(TTN):c.79546G>A (p.Gly26516Ser)
|
rs776256093
|
0.00016
|
|
NM_001267550.2(TTN):c.79883G>C (p.Arg26628Pro)
|
rs201091376
|
0.00016
|
|
NM_001267550.2(TTN):c.87367A>C (p.Ser29123Arg)
|
rs375198596
|
0.00016
|
|
NM_001267550.2(TTN):c.87878G>A (p.Arg29293His)
|
rs202001776
|
0.00016
|
|
NM_001267550.2(TTN):c.90793C>T (p.Arg30265Trp)
|
rs200022152
|
0.00016
|
|
NM_001267550.2(TTN):c.92684G>A (p.Arg30895Gln)
|
rs200141081
|
0.00016
|
|
NM_001267550.2(TTN):c.92696T>C (p.Ile30899Thr)
|
rs373727636
|
0.00016
|
|
NM_001267550.2(TTN):c.92782G>C (p.Asp30928His)
|
rs397517756
|
0.00016
|
|
NM_001267550.2(TTN):c.97055G>A (p.Arg32352His)
|
rs575939045
|
0.00016
|
|
NM_001267550.2(TTN):c.9857A>G (p.Lys3286Arg)
|
rs200052398
|
0.00016
|
|
NM_001927.4(DES):c.643G>A (p.Val215Met)
|
rs144908941
|
0.00016
|
|
NM_001943.5(DSG2):c.1912G>A (p.Gly638Arg)
|
rs201564919
|
0.00016
|
|
NM_001943.5(DSG2):c.2434G>A (p.Gly812Ser)
|
rs121913010
|
0.00016
|
|
NM_002471.4(MYH6):c.5293G>A (p.Ala1765Thr)
|
rs397516775
|
0.00016
|
|
NM_002471.4(MYH6):c.67C>T (p.Arg23Cys)
|
rs587782959
|
0.00016
|
|
NM_002633.3(PGM1):c.1600-3C>T
|
rs375450688
|
0.00016
|
|
NM_003476.5(CSRP3):c.175A>G (p.Lys59Glu)
|
rs769003538
|
0.00016
|
|
NM_003803.4(MYOM1):c.1204C>T (p.Arg402Trp)
|
rs371754365
|
0.00016
|
|
NM_003803.4(MYOM1):c.65T>G (p.Val22Gly)
|
rs113162857
|
0.00016
|
|
NM_004281.4(BAG3):c.1588G>A (p.Val530Met)
|
rs144678100
|
0.00016
|
|
NM_006073.4(TRDN):c.1282C>T (p.Arg428Ter)
|
rs202219343
|
0.00016
|
|
NM_006073.4(TRDN):c.85G>A (p.Gly29Arg)
|
rs763469367
|
0.00016
|
|
NM_006393.3(NEBL):c.2101C>A (p.Pro701Thr)
|
rs371551337
|
0.00016
|
|
NM_006393.3(NEBL):c.258+1G>A
|
rs139581346
|
0.00016
|
|
NM_006440.5(TXNRD2):c.2T>C (p.Met1Thr)
|
rs749057584
|
0.00016
|
|
NM_006440.5(TXNRD2):c.591+1G>C
|
rs200610775
|
0.00016
|
|
NM_006939.4(SOS2):c.2385-3T>C
|
rs374402293
|
0.00016
|
|
NM_013266.4(CTNNA3):c.1421C>T (p.Ala474Val)
|
rs201810511
|
0.00016
|
|
NM_014476.6(PDLIM3):c.896G>A (p.Ser299Asn)
|
rs143812960
|
0.00016
|
|
NM_014908.4(DOLK):c.1257C>G (p.Ile419Met)
|
rs138962748
|
0.00016
|
|
NM_015374.3(SUN2):c.1258G>A (p.Gly420Ser)
|
rs376340507
|
0.00016
|
|
NM_020297.4(ABCC9):c.1909G>A (p.Val637Ile)
|
rs113542001
|
0.00016
|
|
NM_020297.4(ABCC9):c.3669G>A (p.Thr1223=)
|
rs146942382
|
0.00016
|
|
NM_022114.4(PRDM16):c.2691+5G>A
|
rs375994227
|
0.00016
|
|
NM_024422.6(DSC2):c.1766T>C (p.Met589Thr)
|
rs201856473
|
0.00016
|
|
NM_033118.4(MYLK2):c.157G>A (p.Asp53Asn)
|
rs200204126
|
0.00016
|
|
NM_182914.3(SYNE2):c.3267T>G (p.Phe1089Leu)
|
rs201858632
|
0.00016
|
|
NM_182914.3(SYNE2):c.6470T>C (p.Met2157Thr)
|
rs377480048
|
0.00016
|
|
NM_182914.3(SYNE2):c.7762G>A (p.Val2588Met)
|
rs373690979
|
0.00016
|
|
NM_182961.4(SYNE1):c.11594C>T (p.Thr3865Met)
|
rs202173395
|
0.00016
|
|
NM_182961.4(SYNE1):c.12351+4A>C
|
rs375086691
|
0.00016
|
|
NM_182961.4(SYNE1):c.16687C>T (p.Arg5563Trp)
|
rs375097544
|
0.00016
|
|
NM_182961.4(SYNE1):c.19696A>G (p.Met6566Val)
|
rs541395341
|
0.00016
|
|
NM_182961.4(SYNE1):c.21731A>G (p.Tyr7244Cys)
|
rs536892317
|
0.00016
|
|
NM_182961.4(SYNE1):c.25342G>A (p.Asp8448Asn)
|
rs139679692
|
0.00016
|
|
NM_182961.4(SYNE1):c.25484G>A (p.Arg8495His)
|
rs558046278
|
0.00016
|
|
NM_182961.4(SYNE1):c.4261A>G (p.Lys1421Glu)
|
rs369236839
|
0.00016
|
|
NM_182961.4(SYNE1):c.4636A>G (p.Thr1546Ala)
|
rs146965313
|
0.00016
|
|
NM_182961.4(SYNE1):c.6649G>A (p.Val2217Ile)
|
rs377531174
|
0.00016
|
|
NM_182961.4(SYNE1):c.8737G>T (p.Ala2913Ser)
|
rs151300068
|
0.00016
|
|
NM_182961.4(SYNE1):c.9419C>T (p.Ala3140Val)
|
rs146402274
|
0.00016
|
|
NM_000256.3(MYBPC3):c.1226+6T>C
|
rs397515892
|
0.00015
|
|
NM_000256.3(MYBPC3):c.1633C>A (p.Leu545Met)
|
rs377163678
|
0.00015
|
|
NM_001005242.3(PKP2):c.805G>A (p.Gly269Arg)
|
rs757285245
|
0.00015
|
|
NM_001035.3(RYR2):c.6022+5G>A
|
rs376389213
|
0.00015
|
|
NM_001105206.3(LAMA4):c.1298G>A (p.Arg433His)
|
rs369658574
|
0.00015
|
|
NM_001105206.3(LAMA4):c.4792G>T (p.Ala1598Ser)
|
rs202176359
|
0.00015
|
|
NM_001130965.3(SUN1):c.1531G>A (p.Val511Met)
|
rs369117433
|
0.00015
|
|
NM_001130965.3(SUN1):c.599C>T (p.Ala200Val)
|
rs368907584
|
0.00015
|
|
NM_001267550.2(TTN):c.104414G>A (p.Arg34805Gln)
|
rs115150240
|
0.00015
|
|
NM_001267550.2(TTN):c.14869A>C (p.Thr4957Pro)
|
rs780405420
|
0.00015
|
|
NM_001267550.2(TTN):c.24622G>A (p.Glu8208Lys)
|
rs190192954
|
0.00015
|
|
NM_001267550.2(TTN):c.25877A>G (p.Asn8626Ser)
|
rs200355367
|
0.00015
|
|
NM_001267550.2(TTN):c.36391C>T (p.Arg12131Cys)
|
rs368607833
|
0.00015
|
|
NM_001267550.2(TTN):c.45014T>C (p.Leu15005Pro)
|
rs369992659
|
0.00015
|
|
NM_001267550.2(TTN):c.49871G>A (p.Arg16624Gln)
|
rs367566671
|
0.00015
|
|
NM_001267550.2(TTN):c.56255C>T (p.Pro18752Leu)
|
rs200132226
|
0.00015
|
|
NM_001267550.2(TTN):c.68513C>T (p.Ala22838Val)
|
rs372075439
|
0.00015
|
|
NM_001267550.2(TTN):c.88645_88647del (p.Glu29549del)
|
rs778364983
|
0.00015
|
|
NM_001267550.2(TTN):c.93570T>A (p.Asn31190Lys)
|
rs746309005
|
0.00015
|
|
NM_001276345.2(TNNT2):c.692T>C (p.Ile231Thr)
|
rs45520032
|
0.00015
|
|
NM_001458.5(FLNC):c.5296T>C (p.Trp1766Arg)
|
rs751650734
|
0.00015
|
|
NM_001943.5(DSG2):c.2305G>A (p.Glu769Lys)
|
rs371146201
|
0.00015
|
|
NM_003803.4(MYOM1):c.1627G>A (p.Gly543Arg)
|
rs370063864
|
0.00015
|
|
NM_004100.5(EYA4):c.415T>A (p.Ser139Thr)
|
rs146999911
|
0.00015
|
|
NM_012082.4(ZFPM2):c.121C>G (p.Pro41Ala)
|
rs199535268
|
0.00015
|
|
NM_013266.4(CTNNA3):c.457G>C (p.Ala153Pro)
|
rs147116577
|
0.00015
|
|
NM_014908.4(DOLK):c.1324G>A (p.Ala442Thr)
|
rs143641133
|
0.00015
|
|
NM_015374.3(SUN2):c.2040+4C>T
|
rs372381106
|
0.00015
|
|
NM_020433.5(JPH2):c.1465G>A (p.Gly489Arg)
|
rs1446439010
|
0.00015
|
|
NM_022114.4(PRDM16):c.1738G>A (p.Glu580Lys)
|
rs371024796
|
0.00015
|
|
NM_152594.3(SPRED1):c.376+3A>T
|
rs775985211
|
0.00015
|
|
NM_182914.3(SYNE2):c.16640A>G (p.Asp5547Gly)
|
rs150415189
|
0.00015
|
|
NM_182914.3(SYNE2):c.17423C>T (p.Thr5808Ile)
|
rs139361264
|
0.00015
|
|
NM_182914.3(SYNE2):c.2827G>T (p.Asp943Tyr)
|
rs543556397
|
0.00015
|
|
NM_182914.3(SYNE2):c.353A>T (p.Asp118Val)
|
rs199860789
|
0.00015
|
|
NM_182914.3(SYNE2):c.8005A>G (p.Thr2669Ala)
|
rs374946613
|
0.00015
|
|
NM_182961.4(SYNE1):c.12115G>A (p.Val4039Ile)
|
rs199774691
|
0.00015
|
|
NM_182961.4(SYNE1):c.13849A>C (p.Asn4617His)
|
rs147667464
|
0.00015
|
|
NM_182961.4(SYNE1):c.18817G>A (p.Glu6273Lys)
|
rs201346604
|
0.00015
|
|
NM_182961.4(SYNE1):c.21440T>C (p.Met7147Thr)
|
rs140962690
|
0.00015
|
|
NM_000152.5(GAA):c.1888+5G>T
|
rs528282884
|
0.00014
|
|
NM_000231.3(SGCG):c.803C>T (p.Pro268Leu)
|
rs143110015
|
0.00014
|
|
NM_001005242.3(PKP2):c.1379-2006C>T
|
rs1460366599
|
0.00014
|
|
NM_001035.3(RYR2):c.1476+4C>T
|
rs369442980
|
0.00014
|
|
NM_001035.3(RYR2):c.3152G>A (p.Arg1051His)
|
rs79457258
|
0.00014
|
|
NM_001035.3(RYR2):c.4747C>T (p.Pro1583Ser)
|
rs200070226
|
0.00014
|
|
NM_001103.4(ACTN2):c.2367+5G>A
|
rs200469353
|
0.00014
|
|
NM_001105206.3(LAMA4):c.1541G>A (p.Arg514Gln)
|
rs146358872
|
0.00014
|
|
NM_001105206.3(LAMA4):c.4493G>A (p.Arg1498His)
|
rs147556641
|
0.00014
|
|
NM_001105206.3(LAMA4):c.910G>A (p.Gly304Arg)
|
rs191391557
|
0.00014
|
|
NM_001122630.2(CDKN1C):c.736G>T (p.Ala246Ser)
|
rs754283907
|
0.00014
|
|
NM_001130965.3(SUN1):c.1754C>T (p.Ala585Val)
|
rs377135952
|
0.00014
|
|
NM_001232.4(CASQ2):c.338G>A (p.Ser113Asn)
|
rs199750975
|
0.00014
|
|
NM_001267550.2(TTN):c.103434C>A (p.Asp34478Glu)
|
rs376371272
|
0.00014
|
|
NM_001267550.2(TTN):c.104936G>C (p.Gly34979Ala)
|
rs376634193
|
0.00014
|
|
NM_001267550.2(TTN):c.14759C>T (p.Thr4920Met)
|
rs371455094
|
0.00014
|
|
NM_001267550.2(TTN):c.25564G>A (p.Asp8522Asn)
|
rs199619070
|
0.00014
|
|
NM_001267550.2(TTN):c.26329G>A (p.Val8777Ile)
|
rs376823283
|
0.00014
|
|
NM_001267550.2(TTN):c.2731G>A (p.Val911Ile)
|
rs141961878
|
0.00014
|
|
NM_001267550.2(TTN):c.3010G>A (p.Glu1004Lys)
|
rs200902055
|
0.00014
|
|
NM_001267550.2(TTN):c.32660T>C (p.Ile10887Thr)
|
rs371538856
|
0.00014
|
|
NM_001267550.2(TTN):c.32731G>A (p.Glu10911Lys)
|
rs199620003
|
0.00014
|
|
NM_001267550.2(TTN):c.32971G>A (p.Glu10991Lys)
|
rs201081803
|
0.00014
|
|
NM_001267550.2(TTN):c.35924C>A (p.Ala11975Asp)
|
rs182102510
|
0.00014
|
|
NM_001267550.2(TTN):c.47936C>T (p.Pro15979Leu)
|
rs184815126
|
0.00014
|
|
NM_001267550.2(TTN):c.50390G>A (p.Arg16797His)
|
rs200835354
|
0.00014
|
|
NM_001267550.2(TTN):c.54160G>C (p.Val18054Leu)
|
rs200968679
|
0.00014
|
|
NM_001267550.2(TTN):c.57656A>T (p.Tyr19219Phe)
|
rs201541213
|
0.00014
|
|
NM_001267550.2(TTN):c.58190C>T (p.Thr19397Met)
|
rs373527448
|
0.00014
|
|
NM_001267550.2(TTN):c.62425G>A (p.Ala20809Thr)
|
rs532844402
|
0.00014
|
|
NM_001267550.2(TTN):c.72182T>C (p.Met24061Thr)
|
rs200471370
|
0.00014
|
|
NM_001267550.2(TTN):c.75490G>A (p.Asp25164Asn)
|
rs192468365
|
0.00014
|
|
NM_001267550.2(TTN):c.80666A>G (p.Tyr26889Cys)
|
rs571328201
|
0.00014
|
|
NM_001267550.2(TTN):c.81517C>G (p.Pro27173Ala)
|
rs754325718
|
0.00014
|
|
NM_001267550.2(TTN):c.83870G>C (p.Arg27957Thr)
|
rs148067743
|
0.00014
|
|
NM_001267550.2(TTN):c.84977G>A (p.Arg28326Gln)
|
rs200843338
|
0.00014
|
|
NM_001267550.2(TTN):c.88685G>A (p.Gly29562Asp)
|
rs72648235
|
0.00014
|
|
NM_001267550.2(TTN):c.91119A>G (p.Lys30373=)
|
rs192167542
|
0.00014
|
|
NM_001267550.2(TTN):c.96173G>A (p.Arg32058Gln)
|
rs374063064
|
0.00014
|
|
NM_001267550.2(TTN):c.96904+4T>C
|
rs373514079
|
0.00014
|
|
NM_001267550.2(TTN):c.9707C>T (p.Pro3236Leu)
|
rs146199720
|
0.00014
|
|
NM_001267550.2(TTN):c.97642C>T (p.Arg32548Cys)
|
rs377599569
|
0.00014
|
|
NM_001267550.2(TTN):c.9795A>C (p.Arg3265Ser)
|
rs141708467
|
0.00014
|
|
NM_001318895.3(FHL2):c.523A>C (p.Thr175Pro)
|
rs200116659
|
0.00014
|
|
NM_001458.5(FLNC):c.5298+6G>A
|
rs373553314
|
0.00014
|
|
NM_001927.4(DES):c.893C>T (p.Ser298Leu)
|
rs62636491
|
0.00014
|
|
NM_001943.5(DSG2):c.430G>A (p.Glu144Lys)
|
rs199842209
|
0.00014
|
|
NM_002471.4(MYH6):c.1753G>A (p.Gly585Ser)
|
rs150415679
|
0.00014
|
|
NM_002471.4(MYH6):c.2611C>T (p.Arg871Cys)
|
rs376682837
|
0.00014
|
|
NM_002471.4(MYH6):c.346-2A>G
|
rs141187241
|
0.00014
|
|
NM_002633.3(PGM1):c.529T>G (p.Leu177Val)
|
rs112293909
|
0.00014
|
|
NM_003673.4(TCAP):c.337C>T (p.Leu113Phe)
|
rs372312912
|
0.00014
|
|
NM_003803.4(MYOM1):c.2003G>A (p.Gly668Asp)
|
rs369493400
|
0.00014
|
|
NM_004281.4(BAG3):c.1634C>G (p.Pro545Arg)
|
rs759348679
|
0.00014
|
|
NM_006270.5(RRAS):c.344+6_344+7del
|
rs755223611
|
0.00014
|
|
NM_006270.5(RRAS):c.371C>T (p.Thr124Met)
|
rs369508242
|
0.00014
|
|
NM_006393.3(NEBL):c.1227+5G>A
|
rs370026081
|
0.00014
|
|
NM_006393.3(NEBL):c.1864A>C (p.Ser622Arg)
|
rs142157051
|
0.00014
|
|
NM_006440.5(TXNRD2):c.1036C>T (p.Arg346Trp)
|
rs61736941
|
0.00014
|
|
NM_006440.5(TXNRD2):c.199G>A (p.Val67Met)
|
rs372803804
|
0.00014
|
|
NM_006440.5(TXNRD2):c.259G>A (p.Val87Ile)
|
rs201658653
|
0.00014
|
|
NM_013266.4(CTNNA3):c.2066C>T (p.Ala689Val)
|
rs150734357
|
0.00014
|
|
NM_014000.3(VCL):c.2828_2829del (p.Pro943fs)
|
rs781036800
|
0.00014
|
|
NM_014908.4(DOLK):c.1438A>G (p.Ile480Val)
|
rs144209926
|
0.00014
|
|
NM_015374.3(SUN2):c.172C>A (p.Gln58Lys)
|
rs375796599
|
0.00014
|
|
NM_020297.4(ABCC9):c.1987C>T (p.Arg663Cys)
|
rs200349671
|
0.00014
|
|
NM_022114.4(PRDM16):c.1706C>T (p.Thr569Met)
|
rs200647136
|
0.00014
|
|
NM_022114.4(PRDM16):c.3406G>A (p.Gly1136Arg)
|
rs775245244
|
0.00014
|
|
NM_022114.4(PRDM16):c.3544G>A (p.Gly1182Ser)
|
rs201703870
|
0.00014
|
|
NM_024334.3(TMEM43):c.280G>A (p.Ala94Thr)
|
rs369142200
|
0.00014
|
|
NM_032578.4(MYPN):c.845A>G (p.Glu282Gly)
|
rs146336815
|
0.00014
|
|
NM_033118.4(MYLK2):c.134C>T (p.Pro45Leu)
|
rs768640764
|
0.00014
|
|
NM_033118.4(MYLK2):c.260C>T (p.Ala87Val)
|
rs121908107
|
0.00014
|
|
NM_182914.3(SYNE2):c.10988A>C (p.Glu3663Ala)
|
rs369298370
|
0.00014
|
|
NM_182914.3(SYNE2):c.12302G>A (p.Arg4101Gln)
|
rs372624638
|
0.00014
|
|
NM_182914.3(SYNE2):c.14574A>G (p.Ile4858Met)
|
rs568071525
|
0.00014
|
|
NM_182914.3(SYNE2):c.18304G>A (p.Glu6102Lys)
|
rs560736067
|
0.00014
|
|
NM_182914.3(SYNE2):c.7310A>G (p.Asn2437Ser)
|
rs373880647
|
0.00014
|
|
NM_182914.3(SYNE2):c.8911C>G (p.Gln2971Glu)
|
rs200909650
|
0.00014
|
|
NM_182961.4(SYNE1):c.10078C>A (p.Gln3360Lys)
|
rs774710219
|
0.00014
|
|
NM_182961.4(SYNE1):c.14029G>A (p.Ala4677Thr)
|
rs374301933
|
0.00014
|
|
NM_182961.4(SYNE1):c.14164G>A (p.Glu4722Lys)
|
rs35484093
|
0.00014
|
|
NM_182961.4(SYNE1):c.15535G>T (p.Ala5179Ser)
|
rs375686353
|
0.00014
|
|
NM_182961.4(SYNE1):c.1622A>G (p.Gln541Arg)
|
rs532911105
|
0.00014
|
|
NM_182961.4(SYNE1):c.16573-3C>T
|
rs376927135
|
0.00014
|
|
NM_182961.4(SYNE1):c.22072G>T (p.Ala7358Ser)
|
rs145518327
|
0.00014
|
|
NM_182961.4(SYNE1):c.22783A>G (p.Ile7595Val)
|
rs146320179
|
0.00014
|
|
NM_182961.4(SYNE1):c.23222A>G (p.Tyr7741Cys)
|
rs34974663
|
0.00014
|
|
NM_182961.4(SYNE1):c.6009A>C (p.Lys2003Asn)
|
rs772627014
|
0.00014
|
|
NM_182961.4(SYNE1):c.7076C>A (p.Thr2359Asn)
|
rs142747430
|
0.00014
|
|
NM_000152.5(GAA):c.546+3G>A
|
rs371405931
|
0.00013
|
|
NM_000232.5(SGCB):c.392G>A (p.Arg131Gln)
|
rs201439705
|
0.00013
|
|
NM_000257.4(MYH7):c.3286G>T (p.Asp1096Tyr)
|
rs45478699
|
0.00013
|
|
NM_000337.6(SGCD):c.755C>T (p.Thr252Met)
|
rs199520526
|
0.00013
|
|
NM_001005242.3(PKP2):c.1379-2018G>A
|
rs369518480
|
0.00013
|
|
NM_001105206.3(LAMA4):c.1277T>C (p.Met426Thr)
|
rs200112094
|
0.00013
|
|
NM_001105206.3(LAMA4):c.1673C>T (p.Ala558Val)
|
rs137893207
|
0.00013
|
|
NM_001122630.2(CDKN1C):c.-10-5C>T
|
rs374634184
|
0.00013
|
|
NM_001130965.3(SUN1):c.289A>T (p.Thr97Ser)
|
rs536026654
|
0.00013
|
|
NM_001161403.3(LIMS2):c.278A>G (p.Asn93Ser)
|
rs373800371
|
0.00013
|
|
NM_001161403.3(LIMS2):c.445G>A (p.Glu149Lys)
|
rs148943578
|
0.00013
|
|
NM_001267550.2(TTN):c.106837T>G (p.Ser35613Ala)
|
rs374405802
|
0.00013
|
|
NM_001267550.2(TTN):c.12434A>C (p.Glu4145Ala)
|
rs372744369
|
0.00013
|
|
NM_001267550.2(TTN):c.1742C>T (p.Pro581Leu)
|
rs199778910
|
0.00013
|
|
NM_001267550.2(TTN):c.19496A>T (p.His6499Leu)
|
rs375173049
|
0.00013
|
|
NM_001267550.2(TTN):c.23353T>C (p.Cys7785Arg)
|
rs371090975
|
0.00013
|
|
NM_001267550.2(TTN):c.27715T>C (p.Tyr9239His)
|
rs373068293
|
0.00013
|
|
NM_001267550.2(TTN):c.33059A>G (p.Tyr11020Cys)
|
rs72650035
|
0.00013
|
|
NM_001267550.2(TTN):c.35387C>A (p.Ala11796Glu)
|
rs200321949
|
0.00013
|
|
NM_001267550.2(TTN):c.36170C>A (p.Pro12057His)
|
rs374834199
|
0.00013
|
|
NM_001267550.2(TTN):c.3619C>A (p.Pro1207Thr)
|
rs373753003
|
0.00013
|
|
NM_001267550.2(TTN):c.36490C>A (p.Pro12164Thr)
|
rs373422655
|
0.00013
|
|
NM_001267550.2(TTN):c.36803C>G (p.Pro12268Arg)
|
rs997014833
|
0.00013
|
|
NM_001267550.2(TTN):c.49172G>A (p.Arg16391Gln)
|
rs200944827
|
0.00013
|
|
NM_001267550.2(TTN):c.54796G>T (p.Ala18266Ser)
|
rs199837769
|
0.00013
|
|
NM_001267550.2(TTN):c.6899A>G (p.Tyr2300Cys)
|
rs772093035
|
0.00013
|
|
NM_001267550.2(TTN):c.75527G>A (p.Arg25176His)
|
rs375693396
|
0.00013
|
|
NM_001267550.2(TTN):c.7711G>A (p.Glu2571Lys)
|
rs149660690
|
0.00013
|
|
NM_001267550.2(TTN):c.81157T>A (p.Tyr27053Asn)
|
rs776943572
|
0.00013
|
|
NM_001267550.2(TTN):c.82981C>T (p.Pro27661Ser)
|
rs201422612
|
0.00013
|
|
NM_001267550.2(TTN):c.89066G>A (p.Arg29689His)
|
rs368634670
|
0.00013
|
|
NM_001267550.2(TTN):c.92333C>G (p.Thr30778Arg)
|
rs201019681
|
0.00013
|
|
NM_001267550.2(TTN):c.95245G>A (p.Glu31749Lys)
|
rs139542862
|
0.00013
|
|
NM_001318895.3(FHL2):c.512C>T (p.Thr171Met)
|
rs727504674
|
0.00013
|
|
NM_001386795.1(DTNA):c.1847C>T (p.Thr616Met)
|
rs199556035
|
0.00013
|
|
NM_001386795.1(DTNA):c.1936G>T (p.Val646Leu)
|
rs191002814
|
0.00013
|
|
NM_001943.5(DSG2):c.148G>A (p.Ala50Thr)
|
rs1267795586
|
0.00013
|
|
NM_001943.5(DSG2):c.2744G>C (p.Arg915Thr)
|
rs375358300
|
0.00013
|
|
NM_001943.5(DSG2):c.545A>G (p.Asn182Ser)
|
rs368512832
|
0.00013
|
|
NM_002230.4(JUP):c.545C>T (p.Ser182Leu)
|
rs145592971
|
0.00013
|
|
NM_002471.4(MYH6):c.2383C>T (p.Arg795Trp)
|
rs202120238
|
0.00013
|
|
NM_002633.3(PGM1):c.1028G>A (p.Arg343Gln)
|
rs370265239
|
0.00013
|
|
NM_003803.4(MYOM1):c.4357A>T (p.Met1453Leu)
|
rs181642354
|
0.00013
|
|
NM_006073.4(TRDN):c.1627C>A (p.Gln543Lys)
|
rs9398723
|
0.00013
|
|
NM_006073.4(TRDN):c.591A>C (p.Glu197Asp)
|
rs751143632
|
0.00013
|
|
NM_006440.5(TXNRD2):c.1475G>A (p.Arg492Gln)
|
rs368561764
|
0.00013
|
|
NM_006440.5(TXNRD2):c.821G>A (p.Arg274Gln)
|
rs374364917
|
0.00013
|
|
NM_013266.4(CTNNA3):c.2501G>T (p.Arg834Leu)
|
rs373081692
|
0.00013
|
|
NM_014000.3(VCL):c.1403C>T (p.Thr468Met)
|
rs147957747
|
0.00013
|
|
NM_015374.3(SUN2):c.475G>A (p.Val159Ile)
|
rs201453554
|
0.00013
|
|
NM_016599.5(MYOZ2):c.583T>A (p.Phe195Ile)
|
rs554299359
|
0.00013
|
|
NM_020433.5(JPH2):c.1271C>T (p.Pro424Leu)
|
rs375446898
|
0.00013
|
|
NM_020433.5(JPH2):c.1357C>T (p.Pro453Ser)
|
rs556886570
|
0.00013
|
|
NM_022114.4(PRDM16):c.1363G>A (p.Gly455Ser)
|
rs536908705
|
0.00013
|
|
NM_022114.4(PRDM16):c.1574G>A (p.Arg525Gln)
|
rs373011563
|
0.00013
|
|
NM_024334.3(TMEM43):c.718C>T (p.Arg240Cys)
|
rs367910936
|
0.00013
|
|
NM_024422.6(DSC2):c.547C>T (p.Arg183Trp)
|
rs368082152
|
0.00013
|
|
NM_024422.6(DSC2):c.734A>C (p.Glu245Ala)
|
rs373201722
|
0.00013
|
|
NM_032578.4(MYPN):c.1952C>A (p.Pro651Gln)
|
rs548318517
|
0.00013
|
|
NM_152594.3(SPRED1):c.938C>T (p.Thr313Met)
|
rs766814966
|
0.00013
|
|
NM_182914.3(SYNE2):c.17038C>T (p.Arg5680Trp)
|
rs143377752
|
0.00013
|
|
NM_182914.3(SYNE2):c.18622C>T (p.Arg6208Cys)
|
rs377305355
|
0.00013
|
|
NM_182914.3(SYNE2):c.20524G>C (p.Gly6842Arg)
|
rs201538331
|
0.00013
|
|
NM_182961.4(SYNE1):c.18816C>T (p.Gly6272=)
|
rs142296702
|
0.00013
|
|
NM_182961.4(SYNE1):c.226-2dup
|
rs774388631
|
0.00013
|
|
NM_182961.4(SYNE1):c.4378G>A (p.Val1460Ile)
|
rs376463379
|
0.00013
|
|
NM_182961.4(SYNE1):c.6549G>C (p.Glu2183Asp)
|
rs144797998
|
0.00013
|
|
NM_182961.4(SYNE1):c.6908C>T (p.Thr2303Met)
|
rs190867604
|
0.00013
|
|
NM_182961.4(SYNE1):c.8375G>A (p.Arg2792His)
|
rs139175290
|
0.00013
|
|
NM_182961.4(SYNE1):c.9604C>T (p.Arg3202Cys)
|
rs749550071
|
0.00013
|
|
NM_000018.4(ACADVL):c.1873C>G (p.Pro625Ala)
|
rs377044444
|
0.00012
|
|
NM_000116.5(TAFAZZIN):c.562G>A (p.Glu188Lys)
|
rs375663114
|
0.00012
|
|
NM_000126.4(ETFA):c.931G>T (p.Ala311Ser)
|
rs372591001
|
0.00012
|
|
NM_000152.5(GAA):c.1288G>A (p.Glu430Lys)
|
rs375433002
|
0.00012
|
|
NM_000152.5(GAA):c.362A>G (p.Gln121Arg)
|
rs150284874
|
0.00012
|
|
NM_000182.5(HADHA):c.1217A>G (p.Lys406Arg)
|
rs552191498
|
0.00012
|
|
NM_000258.3(MYL3):c.4G>C (p.Ala2Pro)
|
rs148310342
|
0.00012
|
|
NM_000337.6(SGCD):c.451T>G (p.Ser151Ala)
|
rs121909298
|
0.00012
|
|
NM_001005242.3(PKP2):c.1540G>A (p.Val514Ile)
|
rs376102257
|
0.00012
|
|
NM_001005242.3(PKP2):c.682G>A (p.Asp228Asn)
|
rs143954425
|
0.00012
|
|
NM_001035.3(RYR2):c.6280G>A (p.Gly2094Ser)
|
rs777365708
|
0.00012
|
|
NM_001105206.3(LAMA4):c.521A>G (p.Tyr174Cys)
|
rs202131320
|
0.00012
|
|
NM_001130965.3(SUN1):c.233G>A (p.Ser78Asn)
|
rs780522800
|
0.00012
|
|
NM_001267550.2(TTN):c.1066G>C (p.Glu356Gln)
|
rs144531477
|
0.00012
|
|
NM_001267550.2(TTN):c.12404A>G (p.Asn4135Ser)
|
rs565638291
|
0.00012
|
|
NM_001267550.2(TTN):c.1399-3C>T
|
rs397517486
|
0.00012
|
|
NM_001267550.2(TTN):c.14813T>C (p.Phe4938Ser)
|
rs560537668
|
0.00012
|
|
NM_001267550.2(TTN):c.17818T>C (p.Cys5940Arg)
|
rs374882815
|
0.00012
|
|
NM_001267550.2(TTN):c.1943G>C (p.Arg648Thr)
|
rs550441902
|
0.00012
|
|
NM_001267550.2(TTN):c.23926G>A (p.Val7976Ile)
|
rs200395305
|
0.00012
|
|
NM_001267550.2(TTN):c.25126C>T (p.Pro8376Ser)
|
rs375209098
|
0.00012
|
|
NM_001267550.2(TTN):c.28542G>A (p.Glu9514=)
|
rs370604793
|
0.00012
|
|
NM_001267550.2(TTN):c.30811A>G (p.Ile10271Val)
|
rs182720979
|
0.00012
|
|
NM_001267550.2(TTN):c.33796C>T (p.Pro11266Ser)
|
rs201120871
|
0.00012
|
|
NM_001267550.2(TTN):c.36737A>T (p.Glu12246Val)
|
rs786205395
|
0.00012
|
|
NM_001267550.2(TTN):c.37019C>T (p.Pro12340Leu)
|
rs778829839
|
0.00012
|
|
NM_001267550.2(TTN):c.39430G>A (p.Val13144Ile)
|
rs374394719
|
0.00012
|
|
NM_001267550.2(TTN):c.40973A>G (p.Lys13658Arg)
|
rs184713215
|
0.00012
|
|
NM_001267550.2(TTN):c.48683G>A (p.Arg16228His)
|
rs368806005
|
0.00012
|
|
NM_001267550.2(TTN):c.55378A>G (p.Thr18460Ala)
|
rs727503600
|
0.00012
|
|
NM_001267550.2(TTN):c.55655G>A (p.Arg18552His)
|
rs201774108
|
0.00012
|
|
NM_001267550.2(TTN):c.57242T>C (p.Ile19081Thr)
|
rs78509062
|
0.00012
|
|
NM_001267550.2(TTN):c.59402G>A (p.Gly19801Asp)
|
rs202206216
|
0.00012
|
|
NM_001267550.2(TTN):c.60197C>T (p.Pro20066Leu)
|
rs750217838
|
0.00012
|
|
NM_001267550.2(TTN):c.67604G>A (p.Ser22535Asn)
|
rs375676529
|
0.00012
|
|
NM_001267550.2(TTN):c.69338G>A (p.Arg23113Gln)
|
rs370890454
|
0.00012
|
|
NM_001267550.2(TTN):c.71300G>A (p.Arg23767Gln)
|
rs370516890
|
0.00012
|
|
NM_001267550.2(TTN):c.73303C>T (p.Arg24435Cys)
|
rs200028088
|
0.00012
|
|
NM_001267550.2(TTN):c.81464T>C (p.Ile27155Thr)
|
rs397517720
|
0.00012
|
|
NM_001267550.2(TTN):c.81671A>G (p.Asn27224Ser)
|
rs368443217
|
0.00012
|
|
NM_001267550.2(TTN):c.90691C>T (p.Pro30231Ser)
|
rs373722546
|
0.00012
|
|
NM_001267550.2(TTN):c.91399C>T (p.Arg30467Cys)
|
rs775591945
|
0.00012
|
|
NM_001267550.2(TTN):c.93371A>T (p.Asp31124Val)
|
rs775147653
|
0.00012
|
|
NM_003673.4(TCAP):c.209G>A (p.Arg70Gln)
|
rs552865793
|
0.00012
|
|
NM_006393.3(NEBL):c.214C>A (p.Pro72Thr)
|
rs150000482
|
0.00012
|
|
NM_006440.5(TXNRD2):c.623G>A (p.Ser208Asn)
|
rs201531690
|
0.00012
|
|
NM_006912.6(RIT1):c.38G>A (p.Ser13Asn)
|
rs145034964
|
0.00012
|
|
NM_013266.4(CTNNA3):c.832G>A (p.Asp278Asn)
|
rs143693772
|
0.00012
|
|
NM_015374.3(SUN2):c.1314A>T (p.Glu438Asp)
|
rs200311518
|
0.00012
|
|
NM_015374.3(SUN2):c.521G>T (p.Gly174Val)
|
rs148232799
|
0.00012
|
|
NM_022114.4(PRDM16):c.3283C>T (p.Arg1095Trp)
|
rs201439415
|
0.00012
|
|
NM_032578.4(MYPN):c.3913A>G (p.Met1305Val)
|
rs730880170
|
0.00012
|
|
NM_033118.4(MYLK2):c.910G>A (p.Glu304Lys)
|
rs767211264
|
0.00012
|
|
NM_145046.5(CALR3):c.403G>A (p.Asp135Asn)
|
rs143932873
|
0.00012
|
|
NM_145046.5(CALR3):c.564del (p.Gln189fs)
|
rs747656642
|
0.00012
|
|
NM_182914.3(SYNE2):c.13883T>C (p.Leu4628Pro)
|
rs559503999
|
0.00012
|
|
NM_182914.3(SYNE2):c.14518T>C (p.Trp4840Arg)
|
rs148323208
|
0.00012
|
|
NM_182914.3(SYNE2):c.15179C>T (p.Pro5060Leu)
|
rs371146862
|
0.00012
|
|
NM_182914.3(SYNE2):c.17539G>A (p.Glu5847Lys)
|
rs201427580
|
0.00012
|
|
NM_182914.3(SYNE2):c.18595C>G (p.Gln6199Glu)
|
rs375497206
|
0.00012
|
|
NM_182961.4(SYNE1):c.11675T>C (p.Leu3892Ser)
|
rs180727534
|
0.00012
|
|
NM_182961.4(SYNE1):c.13628A>G (p.Tyr4543Cys)
|
rs138770612
|
0.00012
|
|
NM_182961.4(SYNE1):c.15377A>C (p.Glu5126Ala)
|
rs773536890
|
0.00012
|
|
NM_182961.4(SYNE1):c.17089C>T (p.Arg5697Trp)
|
rs150290283
|
0.00012
|
|
NM_182961.4(SYNE1):c.6812C>T (p.Pro2271Leu)
|
rs555536675
|
0.00012
|
|
NM_182961.4(SYNE1):c.8972C>T (p.Thr2991Met)
|
rs763526846
|
0.00012
|
|
NM_000152.5(GAA):c.2161G>C (p.Glu721Gln)
|
rs140376273
|
0.00011
|
|
NM_000231.3(SGCG):c.653T>C (p.Ile218Thr)
|
rs202045534
|
0.00011
|
|
NM_000231.3(SGCG):c.722C>T (p.Thr241Ile)
|
rs1265119318
|
0.00011
|
|
NM_000232.5(SGCB):c.188A>G (p.Asn63Ser)
|
rs377071680
|
0.00011
|
|
NM_000256.3(MYBPC3):c.1445C>T (p.Ala482Val)
|
rs370285346
|
0.00011
|
|
NM_000256.3(MYBPC3):c.2011G>A (p.Val671Ile)
|
rs876657869
|
0.00011
|
|
NM_000256.3(MYBPC3):c.2176C>T (p.Arg726Cys)
|
rs752200396
|
0.00011
|
|
NM_000256.3(MYBPC3):c.3323A>C (p.Lys1108Thr)
|
rs397516015
|
0.00011
|
|
NM_000256.3(MYBPC3):c.442G>A (p.Gly148Arg)
|
rs397516050
|
0.00011
|
|
NM_000256.3(MYBPC3):c.598A>G (p.Ser200Gly)
|
rs370554185
|
0.00011
|
|
NM_000257.4(MYH7):c.3382G>A (p.Ala1128Thr)
|
rs199552354
|
0.00011
|
|
NM_000257.4(MYH7):c.345C>T (p.Tyr115=)
|
rs149439730
|
0.00011
|
|
NM_000257.4(MYH7):c.3982G>A (p.Ala1328Thr)
|
rs372727092
|
0.00011
|
|
NM_000257.4(MYH7):c.5071G>A (p.Val1691Met)
|
rs45464193
|
0.00011
|
|
NM_000337.6(SGCD):c.191T>C (p.Ile64Thr)
|
rs376780156
|
0.00011
|
|
NM_001005242.3(PKP2):c.1740G>T (p.Glu580Asp)
|
rs370219248
|
0.00011
|
|
NM_001005242.3(PKP2):c.2392G>A (p.Val798Ile)
|
rs368633311
|
0.00011
|
|
NM_001035.3(RYR2):c.6793-3C>T
|
rs372314209
|
0.00011
|
|
NM_001105206.3(LAMA4):c.1788C>A (p.Asp596Glu)
|
rs145986920
|
0.00011
|
|
NM_001105206.3(LAMA4):c.2719G>A (p.Val907Ile)
|
rs138030555
|
0.00011
|
|
NM_001105206.3(LAMA4):c.3283-3C>G
|
rs374159760
|
0.00011
|
|
NM_001105206.3(LAMA4):c.5345G>A (p.Arg1782His)
|
rs782638314
|
0.00011
|
|
NM_001105206.3(LAMA4):c.952A>G (p.Ile318Val)
|
rs141372605
|
0.00011
|
|
NM_001130965.3(SUN1):c.1513G>A (p.Val505Ile)
|
rs371879209
|
0.00011
|
|
NM_001130965.3(SUN1):c.1921A>G (p.Met641Val)
|
rs374040275
|
0.00011
|
|
NM_001130965.3(SUN1):c.319G>A (p.Val107Met)
|
rs376335038
|
0.00011
|
|
NM_001130965.3(SUN1):c.581G>A (p.Arg194His)
|
rs369326753
|
0.00011
|
|
NM_001130965.3(SUN1):c.992G>A (p.Arg331Gln)
|
rs374902623
|
0.00011
|
|
NM_001159699.2(FHL1):c.787G>A (p.Asp263Asn)
|
rs754308516
|
0.00011
|
|
NM_001267550.2(TTN):c.105940G>A (p.Ala35314Thr)
|
rs377171054
|
0.00011
|
|
NM_001267550.2(TTN):c.106442A>G (p.Lys35481Arg)
|
rs200716018
|
0.00011
|
|
NM_001267550.2(TTN):c.10759A>C (p.Thr3587Pro)
|
rs370496599
|
0.00011
|
|
NM_001267550.2(TTN):c.22090C>T (p.Arg7364Trp)
|
rs397517500
|
0.00011
|
|
NM_001267550.2(TTN):c.30598G>C (p.Glu10200Gln)
|
rs779015756
|
0.00011
|
|
NM_001267550.2(TTN):c.3940A>G (p.Met1314Val)
|
rs764249439
|
0.00011
|
|
NM_001267550.2(TTN):c.40796C>T (p.Thr13599Ile)
|
rs370418677
|
0.00011
|
|
NM_001267550.2(TTN):c.4261C>T (p.Arg1421Trp)
|
rs144672482
|
0.00011
|
|
NM_001267550.2(TTN):c.50858-3C>T
|
rs587782987
|
0.00011
|
|
NM_001267550.2(TTN):c.52702A>G (p.Ile17568Val)
|
rs377571654
|
0.00011
|
|
NM_001267550.2(TTN):c.53590A>G (p.Thr17864Ala)
|
rs375309278
|
0.00011
|
|
NM_001267550.2(TTN):c.54685G>A (p.Val18229Met)
|
rs116142642
|
0.00011
|
|
NM_001267550.2(TTN):c.55745C>T (p.Pro18582Leu)
|
rs201194435
|
0.00011
|
|
NM_001267550.2(TTN):c.56693G>A (p.Arg18898His)
|
rs572453785
|
0.00011
|
|
NM_001267550.2(TTN):c.59081G>A (p.Cys19694Tyr)
|
rs727505276
|
0.00011
|
|
NM_001267550.2(TTN):c.59248G>A (p.Gly19750Ser)
|
rs200732032
|
0.00011
|
|
NM_001267550.2(TTN):c.59489A>G (p.Lys19830Arg)
|
rs764259290
|
0.00011
|
|
NM_001267550.2(TTN):c.61484G>A (p.Arg20495His)
|
rs775137607
|
0.00011
|
|
NM_001267550.2(TTN):c.62507G>A (p.Arg20836Gln)
|
rs201693851
|
0.00011
|
|
NM_001267550.2(TTN):c.65746C>T (p.Arg21916Trp)
|
rs200155485
|
0.00011
|
|
NM_001267550.2(TTN):c.66703G>A (p.Val22235Ile)
|
rs751354601
|
0.00011
|
|
NM_001267550.2(TTN):c.66844T>C (p.Tyr22282His)
|
rs745992545
|
0.00011
|
|
NM_001267550.2(TTN):c.68161G>A (p.Glu22721Lys)
|
rs374492812
|
0.00011
|
|
NM_001267550.2(TTN):c.71155A>G (p.Ile23719Val)
|
rs201818722
|
0.00011
|
|
NM_001267550.2(TTN):c.72166C>T (p.Arg24056Cys)
|
rs372662393
|
0.00011
|
|
NM_001267550.2(TTN):c.73334C>T (p.Thr24445Ile)
|
rs377334665
|
0.00011
|
|
NM_001267550.2(TTN):c.7339G>A (p.Val2447Met)
|
rs779064962
|
0.00011
|
|
NM_001267550.2(TTN):c.7618C>T (p.Arg2540Cys)
|
rs368574470
|
0.00011
|
|
NM_001267550.2(TTN):c.81856G>A (p.Val27286Ile)
|
rs372784067
|
0.00011
|
|
NM_001267550.2(TTN):c.88123C>T (p.Arg29375Cys)
|
rs368439674
|
0.00011
|
|
NM_001267550.2(TTN):c.88496T>G (p.Leu29499Arg)
|
rs72648234
|
0.00011
|
|
NM_001267550.2(TTN):c.91434A>C (p.Glu30478Asp)
|
rs373900294
|
0.00011
|
|
NM_001267550.2(TTN):c.92677A>G (p.Lys30893Glu)
|
rs370541682
|
0.00011
|
|
NM_001267550.2(TTN):c.93214C>T (p.Arg31072Cys)
|
rs368932767
|
0.00011
|
|
NM_001267550.2(TTN):c.97198C>A (p.Pro32400Thr)
|
rs373876117
|
0.00011
|
|
NM_001267550.2(TTN):c.9811T>G (p.Ser3271Ala)
|
rs556720151
|
0.00011
|
|
NM_001267550.2(TTN):c.98605C>T (p.Arg32869Cys)
|
rs186244950
|
0.00011
|
|
NM_001386795.1(DTNA):c.1652G>A (p.Arg551His)
|
rs142108185
|
0.00011
|
|
NM_001927.4(DES):c.407T>A (p.Leu136His)
|
rs397516695
|
0.00011
|
|
NM_001927.4(DES):c.665G>A (p.Arg222His)
|
rs367961979
|
0.00011
|
|
NM_001943.5(DSG2):c.1478A>G (p.Asn493Ser)
|
rs375679311
|
0.00011
|
|
NM_001943.5(DSG2):c.2360A>G (p.Asp787Gly)
|
rs369868954
|
0.00011
|
|
NM_001943.5(DSG2):c.2506C>G (p.Leu836Val)
|
rs767979763
|
0.00011
|
|
NM_001985.3(ETFB):c.40A>C (p.Ile14Leu)
|
rs148261223
|
0.00011
|
|
NM_002230.4(JUP):c.352G>A (p.Glu118Lys)
|
rs149004293
|
0.00011
|
|
NM_002471.4(MYH6):c.2929-3C>T
|
rs376752266
|
0.00011
|
|
NM_002471.4(MYH6):c.5519A>G (p.Lys1840Arg)
|
rs373629059
|
0.00011
|
|
NM_002471.4(MYH6):c.7G>A (p.Asp3Asn)
|
rs371667049
|
0.00011
|
|
NM_003476.5(CSRP3):c.544G>C (p.Gly182Arg)
|
rs111868331
|
0.00011
|
|
NM_003803.4(MYOM1):c.1168C>T (p.Leu390Phe)
|
rs758497000
|
0.00011
|
|
NM_003803.4(MYOM1):c.125G>T (p.Gly42Val)
|
rs373243051
|
0.00011
|
|
NM_003803.4(MYOM1):c.2552C>T (p.Pro851Leu)
|
rs369604378
|
0.00011
|
|
NM_003803.4(MYOM1):c.2906A>G (p.Tyr969Cys)
|
rs200780735
|
0.00011
|
|
NM_003803.4(MYOM1):c.3223G>A (p.Val1075Met)
|
rs371066861
|
0.00011
|
|
NM_003803.4(MYOM1):c.566A>T (p.Gln189Leu)
|
rs373424159
|
0.00011
|
|
NM_004281.4(BAG3):c.1321A>G (p.Asn441Asp)
|
rs201181493
|
0.00011
|
|
NM_004281.4(BAG3):c.508C>T (p.Arg170Trp)
|
rs200479768
|
0.00011
|
|
NM_004453.4(ETFDH):c.1277A>G (p.Lys426Arg)
|
rs200611086
|
0.00011
|
|
NM_006073.4(TRDN):c.365A>G (p.Asp122Gly)
|
rs749353413
|
0.00011
|
|
NM_006270.5(RRAS):c.631G>A (p.Gly211Arg)
|
rs369588682
|
0.00011
|
|
NM_006393.3(NEBL):c.523G>A (p.Ala175Thr)
|
rs71541562
|
0.00011
|
|
NM_006440.5(TXNRD2):c.1177G>A (p.Asp393Asn)
|
rs369142382
|
0.00011
|
|
NM_012082.4(ZFPM2):c.442A>G (p.Met148Val)
|
rs370456245
|
0.00011
|
|
NM_013266.4(CTNNA3):c.1231A>G (p.Ile411Val)
|
rs372808360
|
0.00011
|
|
NM_013266.4(CTNNA3):c.1303A>G (p.Met435Val)
|
rs377404952
|
0.00011
|
|
NM_013266.4(CTNNA3):c.1628G>A (p.Arg543Gln)
|
rs369033938
|
0.00011
|
|
NM_013266.4(CTNNA3):c.2006A>T (p.Glu669Val)
|
rs377166040
|
0.00011
|
|
NM_013266.4(CTNNA3):c.578A>G (p.Gln193Arg)
|
rs373233387
|
0.00011
|
|
NM_014476.6(PDLIM3):c.246G>A (p.Arg82=)
|
rs200354645
|
0.00011
|
|
NM_015374.3(SUN2):c.31T>C (p.Tyr11His)
|
rs771840984
|
0.00011
|
|
NM_015374.3(SUN2):c.932G>A (p.Arg311Gln)
|
rs376072154
|
0.00011
|
|
NM_021167.5(GATAD1):c.512G>A (p.Arg171Lys)
|
rs540654499
|
0.00011
|
|
NM_022114.4(PRDM16):c.2386G>A (p.Ala796Thr)
|
rs367879720
|
0.00011
|
|
NM_022114.4(PRDM16):c.3221C>T (p.Ser1074Leu)
|
rs572178955
|
0.00011
|
|
NM_022114.4(PRDM16):c.675C>T (p.Asp225=)
|
rs535076398
|
0.00011
|
|
NM_024334.3(TMEM43):c.91G>A (p.Glu31Lys)
|
rs754536393
|
0.00011
|
|
NM_032578.4(MYPN):c.1012C>T (p.Arg338Cys)
|
rs140037748
|
0.00011
|
|
NM_032578.4(MYPN):c.3848G>A (p.Arg1283His)
|
rs372512501
|
0.00011
|
|
NM_144573.4(NEXN):c.1955A>G (p.Tyr652Cys)
|
rs137853197
|
0.00011
|
|
NM_144573.4(NEXN):c.902T>A (p.Ile301Asn)
|
rs373878384
|
0.00011
|
|
NM_182914.3(SYNE2):c.10561G>A (p.Val3521Met)
|
rs202224612
|
0.00011
|
|
NM_182914.3(SYNE2):c.13281-4A>G
|
rs369446724
|
0.00011
|
|
NM_182914.3(SYNE2):c.15031A>G (p.Ile5011Val)
|
rs201269146
|
0.00011
|
|
NM_182914.3(SYNE2):c.15413C>T (p.Thr5138Met)
|
rs145018323
|
0.00011
|
|
NM_182914.3(SYNE2):c.15719C>T (p.Ala5240Val)
|
rs140863307
|
0.00011
|
|
NM_182914.3(SYNE2):c.18001G>A (p.Asp6001Asn)
|
rs769737846
|
0.00011
|
|
NM_182914.3(SYNE2):c.19056+5G>A
|
rs774990082
|
0.00011
|
|
NM_182914.3(SYNE2):c.20462G>A (p.Arg6821Gln)
|
rs148791608
|
0.00011
|
|
NM_182914.3(SYNE2):c.7301G>A (p.Arg2434Gln)
|
rs202200597
|
0.00011
|
|
NM_182961.4(SYNE1):c.10784A>G (p.Asn3595Ser)
|
rs148212715
|
0.00011
|
|
NM_182961.4(SYNE1):c.11429C>T (p.Thr3810Met)
|
rs375577011
|
0.00011
|
|
NM_182961.4(SYNE1):c.14991G>T (p.Arg4997Ser)
|
rs201306174
|
0.00011
|
|
NM_182961.4(SYNE1):c.18584A>C (p.Gln6195Pro)
|
rs370472085
|
0.00011
|
|
NM_182961.4(SYNE1):c.18999G>C (p.Leu6333Phe)
|
rs141934037
|
0.00011
|
|
NM_182961.4(SYNE1):c.19972A>G (p.Lys6658Glu)
|
rs376891338
|
0.00011
|
|
NM_182961.4(SYNE1):c.20737C>T (p.Arg6913Cys)
|
rs142593312
|
0.00011
|
|
NM_182961.4(SYNE1):c.21377A>G (p.Lys7126Arg)
|
rs145882956
|
0.00011
|
|
NM_182961.4(SYNE1):c.22303C>T (p.Arg7435Cys)
|
rs371642308
|
0.00011
|
|
NM_182961.4(SYNE1):c.7175T>C (p.Val2392Ala)
|
rs199558070
|
0.00011
|
|
NM_182961.4(SYNE1):c.8839C>G (p.Leu2947Val)
|
rs756300560
|
0.00011
|
|
NM_182961.4(SYNE1):c.9934G>A (p.Asp3312Asn)
|
rs147281213
|
0.00011
|
|
NM_000023.4(SGCA):c.1076C>A (p.Thr359Asn)
|
rs146924667
|
0.00010
|
|
NM_000126.4(ETFA):c.882+5T>C
|
rs377259058
|
0.00010
|
|
NM_000152.5(GAA):c.1357G>A (p.Gly453Arg)
|
rs550065979
|
0.00010
|
|
NM_000152.5(GAA):c.2122C>T (p.His708Tyr)
|
rs149916476
|
0.00010
|
|
NM_000152.5(GAA):c.725C>A (p.Ala242Glu)
|
rs745861849
|
0.00010
|
|
NM_000152.5(GAA):c.76C>T (p.Leu26Phe)
|
rs149761650
|
0.00010
|
|
NM_000152.5(GAA):c.851C>G (p.Ala284Gly)
|
rs147569830
|
0.00010
|
|
NM_000232.5(SGCB):c.785T>C (p.Met262Thr)
|
rs201923065
|
0.00010
|
|
NM_000256.3(MYBPC3):c.50G>A (p.Arg17Gln)
|
rs374630007
|
0.00010
|
|
NM_000256.3(MYBPC3):c.529C>T (p.Arg177Cys)
|
rs193922385
|
0.00010
|
|
NM_000257.4(MYH7):c.1887G>A (p.Ala629=)
|
rs376572023
|
0.00010
|
|
NM_000257.4(MYH7):c.5786C>T (p.Thr1929Met)
|
rs730880918
|
0.00010
|
|
NM_000257.4(MYH7):c.976G>C (p.Ala326Pro)
|
rs372731424
|
0.00010
|
|
NM_000337.6(SGCD):c.394G>A (p.Val132Ile)
|
rs367819390
|
0.00010
|
|
NM_000337.6(SGCD):c.793G>A (p.Val265Ile)
|
rs772185467
|
0.00010
|
|
NM_000371.4(TTR):c.140A>G (p.Asn47Ser)
|
rs145551875
|
0.00010
|
|
NM_001018005.2(TPM1):c.773-3T>C
|
rs113759732
|
0.00010
|
|
NM_001035.3(RYR2):c.2357G>A (p.Gly786Asp)
|
rs182778119
|
0.00010
|
|
NM_001035.3(RYR2):c.4069G>C (p.Asp1357His)
|
rs193922626
|
0.00010
|
|
NM_001035.3(RYR2):c.8590+4A>G
|
rs778964264
|
0.00010
|
|
NM_001035.3(RYR2):c.9190G>A (p.Ala3064Thr)
|
rs375482798
|
0.00010
|
|
NM_001105206.3(LAMA4):c.1390C>G (p.His464Asp)
|
rs151119304
|
0.00010
|
|
NM_001105206.3(LAMA4):c.1551+4C>T
|
rs201209516
|
0.00010
|
|
NM_001105206.3(LAMA4):c.3594C>A (p.Phe1198Leu)
|
rs530201164
|
0.00010
|
|
NM_001130965.3(SUN1):c.260C>T (p.Ala87Val)
|
rs371152290
|
0.00010
|
|
NM_001134363.3(RBM20):c.304C>T (p.Arg102Trp)
|
rs794729160
|
0.00010
|
|
NM_001161403.3(LIMS2):c.533G>A (p.Arg178His)
|
rs144584729
|
0.00010
|
|
NM_001232.4(CASQ2):c.1186G>A (p.Asp396Asn)
|
rs368007942
|
0.00010
|
|
NM_001267550.2(TTN):c.100058T>C (p.Ile33353Thr)
|
rs138234724
|
0.00010
|
|
NM_001267550.2(TTN):c.102524G>A (p.Arg34175Gln)
|
rs201954720
|
0.00010
|
|
NM_001267550.2(TTN):c.104605G>A (p.Glu34869Lys)
|
rs563430855
|
0.00010
|
|
NM_001267550.2(TTN):c.106820C>T (p.Ala35607Val)
|
rs377337528
|
0.00010
|
|
NM_001267550.2(TTN):c.12547A>G (p.Lys4183Glu)
|
rs201565932
|
0.00010
|
|
NM_001267550.2(TTN):c.12587C>A (p.Ser4196Ter)
|
rs370912401
|
0.00010
|
|
NM_001267550.2(TTN):c.1333G>A (p.Ala445Thr)
|
rs142414432
|
0.00010
|
|
NM_001267550.2(TTN):c.14309A>G (p.Tyr4770Cys)
|
rs371552518
|
0.00010
|
|
NM_001267550.2(TTN):c.18663A>C (p.Glu6221Asp)
|
rs369544339
|
0.00010
|
|
NM_001267550.2(TTN):c.19996C>T (p.Pro6666Ser)
|
rs571231816
|
0.00010
|
|
NM_001267550.2(TTN):c.21404-8C>G
|
rs761542135
|
0.00010
|
|
NM_001267550.2(TTN):c.24020G>A (p.Arg8007Gln)
|
rs765789516
|
0.00010
|
|
NM_001267550.2(TTN):c.24639A>C (p.Gln8213His)
|
rs397517510
|
0.00010
|
|
NM_001267550.2(TTN):c.25570G>A (p.Gly8524Arg)
|
rs371512914
|
0.00010
|
|
NM_001267550.2(TTN):c.25937G>A (p.Arg8646His)
|
rs144587343
|
0.00010
|
|
NM_001267550.2(TTN):c.26283C>T (p.Gly8761=)
|
rs376046284
|
0.00010
|
|
NM_001267550.2(TTN):c.266C>G (p.Ala89Gly)
|
rs200165636
|
0.00010
|
|
NM_001267550.2(TTN):c.31762+4C>T
|
rs368538884
|
0.00010
|
|
NM_001267550.2(TTN):c.34954G>T (p.Val11652Leu)
|
rs371752190
|
0.00010
|
|
NM_001267550.2(TTN):c.35959+5C>T
|
rs758684276
|
0.00010
|
|
NM_001267550.2(TTN):c.37543+5G>T
|
rs570767771
|
0.00010
|
|
NM_001267550.2(TTN):c.4150G>T (p.Ala1384Ser)
|
rs144609506
|
0.00010
|
|
NM_001267550.2(TTN):c.4228G>C (p.Val1410Leu)
|
rs576593161
|
0.00010
|
|
NM_001267550.2(TTN):c.43G>A (p.Val15Ile)
|
rs201857541
|
0.00010
|
|
NM_001267550.2(TTN):c.44036G>A (p.Arg14679Gln)
|
rs369709751
|
0.00010
|
|
NM_001267550.2(TTN):c.44323G>A (p.Val14775Met)
|
rs540115992
|
0.00010
|
|
NM_001267550.2(TTN):c.46222G>A (p.Ala15408Thr)
|
rs730880239
|
0.00010
|
|
NM_001267550.2(TTN):c.50297G>A (p.Arg16766Gln)
|
rs747224934
|
0.00010
|
|
NM_001267550.2(TTN):c.5048G>A (p.Arg1683Gln)
|
rs368122582
|
0.00010
|
|
NM_001267550.2(TTN):c.5577G>T (p.Arg1859Ser)
|
rs551538420
|
0.00010
|
|
NM_001267550.2(TTN):c.57478G>C (p.Val19160Leu)
|
rs200778464
|
0.00010
|
|
NM_001267550.2(TTN):c.59729C>T (p.Thr19910Ile)
|
rs369476725
|
0.00010
|
|
NM_001267550.2(TTN):c.62546C>T (p.Thr20849Met)
|
rs372685222
|
0.00010
|
|
NM_001267550.2(TTN):c.65731A>G (p.Lys21911Glu)
|
rs372565084
|
0.00010
|
|
NM_001267550.2(TTN):c.67445G>A (p.Arg22482Gln)
|
rs200146608
|
0.00010
|
|
NM_001267550.2(TTN):c.67808C>T (p.Ala22603Val)
|
rs199583938
|
0.00010
|
|
NM_001267550.2(TTN):c.68165A>G (p.Asn22722Ser)
|
rs200493270
|
0.00010
|
|
NM_001267550.2(TTN):c.6927T>A (p.Asn2309Lys)
|
rs147580120
|
0.00010
|
|
NM_001267550.2(TTN):c.80854G>A (p.Val26952Ile)
|
rs371362606
|
0.00010
|
|
NM_001267550.2(TTN):c.81869G>C (p.Gly27290Ala)
|
rs200240728
|
0.00010
|
|
NM_001267550.2(TTN):c.82754C>A (p.Ser27585Tyr)
|
rs72648215
|
0.00010
|
|
NM_001267550.2(TTN):c.86471C>T (p.Thr28824Ile)
|
rs200709344
|
0.00010
|
|
NM_001267550.2(TTN):c.89018G>A (p.Arg29673Gln)
|
rs200639218
|
0.00010
|
|
NM_001267550.2(TTN):c.90104G>A (p.Arg30035His)
|
rs199895320
|
0.00010
|
|
NM_001267550.2(TTN):c.91384C>T (p.Arg30462Trp)
|
rs373623340
|
0.00010
|
|
NM_001267550.2(TTN):c.91621G>A (p.Gly30541Arg)
|
rs200854704
|
0.00010
|
|
NM_001267550.2(TTN):c.98807G>A (p.Arg32936His)
|
rs774296358
|
0.00010
|
|
NM_001386795.1(DTNA):c.614C>T (p.Thr205Met)
|
rs201071018
|
0.00010
|
|
NM_002230.4(JUP):c.1565C>T (p.Ala522Val)
|
rs1060502679
|
0.00010
|
|
NM_002230.4(JUP):c.608G>A (p.Arg203His)
|
rs200221163
|
0.00010
|
|
NM_002230.4(JUP):c.926A>G (p.Asn309Ser)
|
rs140606359
|
0.00010
|
|
NM_002471.4(MYH6):c.1347G>T (p.Glu449Asp)
|
rs142059069
|
0.00010
|
|
NM_002471.4(MYH6):c.161G>A (p.Arg54Gln)
|
rs727503239
|
0.00010
|
|
NM_002471.4(MYH6):c.3343-3C>A
|
rs565446762
|
0.00010
|
|
NM_002471.4(MYH6):c.3346C>A (p.Arg1116Ser)
|
rs372446459
|
0.00010
|
|
NM_002471.4(MYH6):c.4264C>T (p.Arg1422Trp)
|
rs200465713
|
0.00010
|
|
NM_002471.4(MYH6):c.941T>C (p.Val314Ala)
|
rs367952105
|
0.00010
|
|
NM_003280.3(TNNC1):c.435C>A (p.Asp145Glu)
|
rs267607124
|
0.00010
|
|
NM_003476.5(CSRP3):c.414+6A>G
|
rs745491806
|
0.00010
|
|
NM_003673.4(TCAP):c.223G>A (p.Gly75Ser)
|
rs753744791
|
0.00010
|
|
NM_003803.4(MYOM1):c.1058C>T (p.Ser353Leu)
|
rs200948763
|
0.00010
|
|
NM_003803.4(MYOM1):c.2324C>A (p.Ala775Glu)
|
rs765961982
|
0.00010
|
|
NM_003803.4(MYOM1):c.3578C>T (p.Thr1193Met)
|
rs755768408
|
0.00010
|
|
NM_003803.4(MYOM1):c.4243A>G (p.Ile1415Val)
|
rs190368385
|
0.00010
|
|
NM_003803.4(MYOM1):c.4383G>T (p.Leu1461Phe)
|
rs200144975
|
0.00010
|
|
NM_004453.4(ETFDH):c.1603G>T (p.Ala535Ser)
|
rs748346465
|
0.00010
|
|
NM_004453.4(ETFDH):c.1652C>T (p.Ser551Leu)
|
rs772351035
|
0.00010
|
|
NM_006073.4(TRDN):c.125C>T (p.Thr42Met)
|
rs371627659
|
0.00010
|
|
NM_006073.4(TRDN):c.1951+6C>A
|
rs781510666
|
0.00010
|
|
NM_006073.4(TRDN):c.2093A>G (p.Asn698Ser)
|
rs377368177
|
0.00010
|
|
NM_006393.3(NEBL):c.1674A>C (p.Arg558Ser)
|
rs376405982
|
0.00010
|
|
NM_006393.3(NEBL):c.2344A>G (p.Met782Val)
|
rs200574474
|
0.00010
|
|
NM_006440.5(TXNRD2):c.236G>A (p.Arg79Gln)
|
rs373979810
|
0.00010
|
|
NM_006939.4(SOS2):c.1868G>A (p.Arg623His)
|
rs138459515
|
0.00010
|
|
NM_013266.4(CTNNA3):c.1219C>T (p.Arg407Trp)
|
rs138643733
|
0.00010
|
|
NM_013266.4(CTNNA3):c.2211G>C (p.Met737Ile)
|
rs192848934
|
0.00010
|
|
NM_013266.4(CTNNA3):c.2482G>A (p.Ala828Thr)
|
rs753950562
|
0.00010
|
|
NM_013266.4(CTNNA3):c.2550G>A (p.Met850Ile)
|
rs138237676
|
0.00010
|
|
NM_014000.3(VCL):c.688C>T (p.Arg230Cys)
|
rs139312390
|
0.00010
|
|
NM_014000.3(VCL):c.829C>A (p.Leu277Met)
|
rs71579353
|
0.00010
|
|
NM_014908.4(DOLK):c.379G>A (p.Val127Met)
|
rs752310792
|
0.00010
|
|
NM_014908.4(DOLK):c.898C>T (p.Leu300Phe)
|
rs371529625
|
0.00010
|
|
NM_020433.5(JPH2):c.1732C>A (p.Pro578Thr)
|
rs746846724
|
0.00010
|
|
NM_020433.5(JPH2):c.1896G>C (p.Glu632Asp)
|
rs367563723
|
0.00010
|
|
NM_024422.6(DSC2):c.1721G>A (p.Ser574Asn)
|
rs150318400
|
0.00010
|
|
NM_024422.6(DSC2):c.1844C>A (p.Ser615Tyr)
|
rs756304120
|
0.00010
|
|
NM_032578.4(MYPN):c.251A>G (p.Asn84Ser)
|
rs768968410
|
0.00010
|
|
NM_032578.4(MYPN):c.259C>G (p.Pro87Ala)
|
rs376945733
|
0.00010
|
|
NM_032578.4(MYPN):c.2864G>A (p.Arg955Gln)
|
rs199476414
|
0.00010
|
|
NM_145046.5(CALR3):c.1066C>T (p.Arg356Cys)
|
rs150430942
|
0.00010
|
|
NM_145046.5(CALR3):c.1069G>A (p.Glu357Lys)
|
rs777429499
|
0.00010
|
|
NM_182914.3(SYNE2):c.12379G>A (p.Asp4127Asn)
|
rs145874555
|
0.00010
|
|
NM_182914.3(SYNE2):c.12381+6G>A
|
rs781486571
|
0.00010
|
|
NM_182914.3(SYNE2):c.16753C>T (p.Arg5585Cys)
|
rs370674900
|
0.00010
|
|
NM_182914.3(SYNE2):c.17653A>T (p.Met5885Leu)
|
rs137866467
|
0.00010
|
|
NM_182914.3(SYNE2):c.18000C>A (p.Asn6000Lys)
|
rs150002885
|
0.00010
|
|
NM_182914.3(SYNE2):c.3244-3T>C
|
rs764351817
|
0.00010
|
|
NM_182914.3(SYNE2):c.7720T>A (p.Leu2574Ile)
|
rs759148677
|
0.00010
|
|
NM_182961.4(SYNE1):c.10217A>C (p.Asp3406Ala)
|
rs546645393
|
0.00010
|
|
NM_182961.4(SYNE1):c.11936G>A (p.Arg3979His)
|
rs142444474
|
0.00010
|
|
NM_182961.4(SYNE1):c.14491G>C (p.Val4831Leu)
|
rs375977864
|
0.00010
|
|
NM_182961.4(SYNE1):c.17531C>G (p.Ser5844Cys)
|
rs144244988
|
0.00010
|
|
NM_182961.4(SYNE1):c.19351C>G (p.Arg6451Gly)
|
rs755740366
|
0.00010
|
|
NM_182961.4(SYNE1):c.21469C>T (p.Arg7157Cys)
|
rs757688642
|
0.00010
|
|
NM_182961.4(SYNE1):c.22915G>A (p.Ala7639Thr)
|
rs376169744
|
0.00010
|
|
NM_182961.4(SYNE1):c.25966C>A (p.Leu8656Met)
|
rs748509032
|
0.00010
|
|
NM_182961.4(SYNE1):c.25C>T (p.Arg9Trp)
|
rs200346529
|
0.00010
|
|
NM_182961.4(SYNE1):c.4298C>T (p.Thr1433Met)
|
rs139798419
|
0.00010
|
|
NM_182961.4(SYNE1):c.8686C>T (p.Arg2896Cys)
|
rs750573381
|
0.00010
|
|
NM_000018.4(ACADVL):c.1005C>A (p.His335Gln)
|
rs753624994
|
0.00009
|
|
NM_000018.4(ACADVL):c.1613G>A (p.Arg538Gln)
|
rs201350598
|
0.00009
|
|
NM_000018.4(ACADVL):c.1733T>C (p.Met578Thr)
|
rs375806217
|
0.00009
|
|
NM_000018.4(ACADVL):c.1803G>A (p.Met601Ile)
|
rs201462718
|
0.00009
|
|
NM_000018.4(ACADVL):c.276C>T (p.Ser92=)
|
rs530278910
|
0.00009
|
|
NM_000023.4(SGCA):c.1051C>T (p.Arg351Cys)
|
rs143365858
|
0.00009
|
|
NM_000023.4(SGCA):c.155T>G (p.Val52Gly)
|
rs148132791
|
0.00009
|
|
NM_000126.4(ETFA):c.11C>T (p.Ala4Val)
|
rs761552468
|
0.00009
|
|
NM_000152.5(GAA):c.1630G>A (p.Val544Met)
|
rs567695610
|
0.00009
|
|
NM_000152.5(GAA):c.546+6C>T
|
rs375727055
|
0.00009
|
|
NM_000152.5(GAA):c.682G>A (p.Gly228Ser)
|
rs747150907
|
0.00009
|
|
NM_000182.5(HADHA):c.1655C>T (p.Ala552Val)
|
rs369588406
|
0.00009
|
|
NM_000231.3(SGCG):c.17A>G (p.Tyr6Cys)
|
rs148041867
|
0.00009
|
|
NM_000256.3(MYBPC3):c.1565C>T (p.Ala522Val)
|
rs370362589
|
0.00009
|
|
NM_000256.3(MYBPC3):c.3412C>T (p.Arg1138Cys)
|
rs377171707
|
0.00009
|
|
NM_000256.3(MYBPC3):c.640G>A (p.Asp214Asn)
|
rs769167548
|
0.00009
|
|
NM_000257.4(MYH7):c.2183C>T (p.Ala728Val)
|
rs121913644
|
0.00009
|
|
NM_000257.4(MYH7):c.2359C>T (p.Arg787Cys)
|
rs145677314
|
0.00009
|
|
NM_000257.4(MYH7):c.4423C>T (p.Arg1475Cys)
|
rs139646545
|
0.00009
|
|
NM_000257.4(MYH7):c.5287G>A (p.Ala1763Thr)
|
rs727504355
|
0.00009
|
|
NM_000257.4(MYH7):c.5329G>A (p.Ala1777Thr)
|
rs200939753
|
0.00009
|
|
NM_000257.4(MYH7):c.5559+5G>A
|
rs371177871
|
0.00009
|
|
NM_000337.6(SGCD):c.160A>G (p.Ile54Val)
|
rs200671745
|
0.00009
|
|
NM_000432.4(MYL2):c.359G>A (p.Arg120Gln)
|
rs192057022
|
0.00009
|
|
NM_000432.4(MYL2):c.374C>T (p.Thr125Met)
|
rs375667565
|
0.00009
|
|
NM_001005242.3(PKP2):c.2302G>A (p.Asp768Asn)
|
rs200947767
|
0.00009
|
|
NM_001018005.2(TPM1):c.829G>A (p.Ala277Thr)
|
rs149659674
|
0.00009
|
|
NM_001035.3(RYR2):c.10680T>A (p.His3560Gln)
|
rs727503404
|
0.00009
|
|
NM_001035.3(RYR2):c.2828T>C (p.Leu943Ser)
|
rs373665895
|
0.00009
|
|
NM_001035.3(RYR2):c.4273A>G (p.Thr1425Ala)
|
rs776046135
|
0.00009
|
|
NM_001035.3(RYR2):c.5600A>C (p.Glu1867Ala)
|
rs539021736
|
0.00009
|
|
NM_001035.3(RYR2):c.7511C>T (p.Thr2504Met)
|
rs769219555
|
0.00009
|
|
NM_001105206.3(LAMA4):c.3817T>C (p.Phe1273Leu)
|
rs781966924
|
0.00009
|
|
NM_001105206.3(LAMA4):c.4742C>G (p.Pro1581Arg)
|
rs138830179
|
0.00009
|
|
NM_001130965.3(SUN1):c.1747A>G (p.Ser583Gly)
|
rs200128195
|
0.00009
|
|
NM_001130965.3(SUN1):c.241G>A (p.Val81Ile)
|
rs536171212
|
0.00009
|
|
NM_001130965.3(SUN1):c.424G>C (p.Glu142Gln)
|
rs369804846
|
0.00009
|
|
NM_001159699.2(FHL1):c.278A>G (p.Asn93Ser)
|
rs761300463
|
0.00009
|
|
NM_001161403.3(LIMS2):c.12-6769C>G
|
rs924276736
|
0.00009
|
|
NM_001161403.3(LIMS2):c.635C>T (p.Ala212Val)
|
rs138275119
|
0.00009
|
|
NM_001232.4(CASQ2):c.235C>T (p.Leu79Phe)
|
rs771298193
|
0.00009
|
|
NM_001232.4(CASQ2):c.80C>T (p.Thr27Ile)
|
rs773237428
|
0.00009
|
|
NM_001232.4(CASQ2):c.898G>A (p.Asp300Asn)
|
rs376147306
|
0.00009
|
|
NM_001267550.2(TTN):c.101378A>T (p.Asp33793Val)
|
rs200675195
|
0.00009
|
|
NM_001267550.2(TTN):c.102428T>C (p.Met34143Thr)
|
rs397517786
|
0.00009
|
|
NM_001267550.2(TTN):c.105091G>A (p.Val35031Met)
|
rs552058608
|
0.00009
|
|
NM_001267550.2(TTN):c.14050G>A (p.Gly4684Arg)
|
rs377579941
|
0.00009
|
|
NM_001267550.2(TTN):c.1585G>A (p.Ala529Thr)
|
rs143030869
|
0.00009
|
|
NM_001267550.2(TTN):c.16825G>A (p.Glu5609Lys)
|
rs374682077
|
0.00009
|
|
NM_001267550.2(TTN):c.16934C>T (p.Pro5645Leu)
|
rs370889765
|
0.00009
|
|
NM_001267550.2(TTN):c.17806A>G (p.Ile5936Val)
|
rs72648945
|
0.00009
|
|
NM_001267550.2(TTN):c.2061A>G (p.Gln687=)
|
rs188680791
|
0.00009
|
|
NM_001267550.2(TTN):c.21475G>A (p.Val7159Ile)
|
rs371267140
|
0.00009
|
|
NM_001267550.2(TTN):c.2360T>C (p.Ile787Thr)
|
rs143444636
|
0.00009
|
|
NM_001267550.2(TTN):c.25563C>T (p.Gly8521=)
|
rs556205722
|
0.00009
|
|
NM_001267550.2(TTN):c.2611G>T (p.Val871Leu)
|
rs72647861
|
0.00009
|
|
NM_001267550.2(TTN):c.26674G>A (p.Val8892Ile)
|
rs747832107
|
0.00009
|
|
NM_001267550.2(TTN):c.29317G>A (p.Ala9773Thr)
|
rs371163094
|
0.00009
|
|
NM_001267550.2(TTN):c.30033A>G (p.Gln10011=)
|
rs768497622
|
0.00009
|
|
NM_001267550.2(TTN):c.31391G>A (p.Arg10464Gln)
|
rs727504757
|
0.00009
|
|
NM_001267550.2(TTN):c.33305G>A (p.Arg11102His)
|
rs368777046
|
0.00009
|
|
NM_001267550.2(TTN):c.34982T>C (p.Val11661Ala)
|
rs199561793
|
0.00009
|
|
NM_001267550.2(TTN):c.3608G>C (p.Gly1203Ala)
|
rs564353179
|
0.00009
|
|
NM_001267550.2(TTN):c.40395A>G (p.Ile13465Met)
|
rs766145596
|
0.00009
|
|
NM_001267550.2(TTN):c.41596G>A (p.Val13866Ile)
|
rs375474669
|
0.00009
|
|
NM_001267550.2(TTN):c.47705G>A (p.Gly15902Glu)
|
rs561284948
|
0.00009
|
|
NM_001267550.2(TTN):c.49070C>T (p.Ala16357Val)
|
rs199768159
|
0.00009
|
|
NM_001267550.2(TTN):c.49363A>G (p.Thr16455Ala)
|
rs374543277
|
0.00009
|
|
NM_001267550.2(TTN):c.50480G>A (p.Arg16827Gln)
|
rs138896856
|
0.00009
|
|
NM_001267550.2(TTN):c.50774T>C (p.Val16925Ala)
|
rs370067597
|
0.00009
|
|
NM_001267550.2(TTN):c.51642G>C (p.Glu17214Asp)
|
rs372443762
|
0.00009
|
|
NM_001267550.2(TTN):c.51668G>A (p.Arg17223Gln)
|
rs142395261
|
0.00009
|
|
NM_001267550.2(TTN):c.51896C>T (p.Pro17299Leu)
|
rs369648778
|
0.00009
|
|
NM_001267550.2(TTN):c.53012C>T (p.Ala17671Val)
|
rs549478203
|
0.00009
|
|
NM_001267550.2(TTN):c.5314A>G (p.Ser1772Gly)
|
rs150725992
|
0.00009
|
|
NM_001267550.2(TTN):c.53780T>C (p.Leu17927Pro)
|
rs369678018
|
0.00009
|
|
NM_001267550.2(TTN):c.53903G>A (p.Arg17968His)
|
rs200100660
|
0.00009
|
|
NM_001267550.2(TTN):c.54053A>T (p.Lys18018Met)
|
rs368425364
|
0.00009
|
|
NM_001267550.2(TTN):c.54068G>A (p.Arg18023Gln)
|
rs727503603
|
0.00009
|
|
NM_001267550.2(TTN):c.54109C>T (p.Arg18037Trp)
|
rs201623791
|
0.00009
|
|
NM_001267550.2(TTN):c.57544+7dup
|
rs750881309
|
0.00009
|
|
NM_001267550.2(TTN):c.58857A>C (p.Glu19619Asp)
|
rs368026488
|
0.00009
|
|
NM_001267550.2(TTN):c.59849G>A (p.Arg19950Gln)
|
rs374914334
|
0.00009
|
|
NM_001267550.2(TTN):c.60146G>A (p.Arg20049His)
|
rs200455644
|
0.00009
|
|
NM_001267550.2(TTN):c.61337G>A (p.Arg20446His)
|
rs368278158
|
0.00009
|
|
NM_001267550.2(TTN):c.63907G>A (p.Val21303Met)
|
rs372812312
|
0.00009
|
|
NM_001267550.2(TTN):c.65574T>C (p.Asn21858=)
|
rs374858668
|
0.00009
|
|
NM_001267550.2(TTN):c.66086G>A (p.Arg22029His)
|
rs72646868
|
0.00009
|
|
NM_001267550.2(TTN):c.66601G>A (p.Asp22201Asn)
|
rs368924655
|
0.00009
|
|
NM_001267550.2(TTN):c.69638G>A (p.Arg23213His)
|
rs374883884
|
0.00009
|
|
NM_001267550.2(TTN):c.72674C>T (p.Pro24225Leu)
|
rs55992239
|
0.00009
|
|
NM_001267550.2(TTN):c.72826A>T (p.Thr24276Ser)
|
rs373204984
|
0.00009
|
|
NM_001267550.2(TTN):c.75259G>A (p.Ala25087Thr)
|
rs759110420
|
0.00009
|
|
NM_001267550.2(TTN):c.77707G>A (p.Val25903Ile)
|
rs570615498
|
0.00009
|
|
NM_001267550.2(TTN):c.78906A>C (p.Glu26302Asp)
|
rs534003014
|
0.00009
|
|
NM_001267550.2(TTN):c.84965G>A (p.Arg28322His)
|
rs373532064
|
0.00009
|
|
NM_001267550.2(TTN):c.87280G>A (p.Glu29094Lys)
|
rs199501185
|
0.00009
|
|
NM_001267550.2(TTN):c.88285A>G (p.Ile29429Val)
|
rs373738818
|
0.00009
|
|
NM_001267550.2(TTN):c.89947G>A (p.Val29983Met)
|
rs397517746
|
0.00009
|
|
NM_001267550.2(TTN):c.92831G>A (p.Arg30944His)
|
rs755972883
|
0.00009
|
|
NM_001267550.2(TTN):c.94827C>T (p.Tyr31609=)
|
rs771635198
|
0.00009
|
|
NM_001267550.2(TTN):c.96989T>C (p.Ile32330Thr)
|
rs201023432
|
0.00009
|
|
NM_001267550.2(TTN):c.97247C>T (p.Ser32416Leu)
|
rs377412567
|
0.00009
|
|
NM_001318895.3(FHL2):c.392G>A (p.Arg131His)
|
rs371421189
|
0.00009
|
|
NM_001318895.3(FHL2):c.820G>A (p.Asp274Asn)
|
rs145070796
|
0.00009
|
|
NM_001386795.1(DTNA):c.371A>G (p.His124Arg)
|
rs150147476
|
0.00009
|
|
NM_001458.5(FLNC):c.1168A>C (p.Asn390His)
|
rs922960289
|
0.00009
|
|
NM_001458.5(FLNC):c.1645A>G (p.Ile549Val)
|
rs547997371
|
0.00009
|
|
NM_001458.5(FLNC):c.5128G>A (p.Glu1710Lys)
|
rs200077114
|
0.00009
|
|
NM_001458.5(FLNC):c.7450G>A (p.Gly2484Ser)
|
rs778922568
|
0.00009
|
|
NM_001927.4(DES):c.250G>A (p.Gly84Ser)
|
rs200545412
|
0.00009
|
|
NM_001943.5(DSG2):c.2096G>T (p.Ser699Ile)
|
rs727504770
|
0.00009
|
|
NM_001943.5(DSG2):c.379-3C>T
|
rs376556524
|
0.00009
|
|
NM_002230.4(JUP):c.1372G>A (p.Ala458Thr)
|
rs139559495
|
0.00009
|
|
NM_002230.4(JUP):c.578T>C (p.Met193Thr)
|
rs139496777
|
0.00009
|
|
NM_002230.4(JUP):c.892G>A (p.Gly298Ser)
|
rs199597864
|
0.00009
|
|
NM_002471.4(MYH6):c.203C>T (p.Thr68Met)
|
rs751285148
|
0.00009
|
|
NM_002471.4(MYH6):c.2554G>A (p.Ala852Thr)
|
rs776971183
|
0.00009
|
|
NM_002471.4(MYH6):c.3139C>T (p.Arg1047Cys)
|
rs755565288
|
0.00009
|
|
NM_002471.4(MYH6):c.3612G>C (p.Glu1204Asp)
|
rs751153777
|
0.00009
|
|
NM_002471.4(MYH6):c.421G>A (p.Ala141Thr)
|
rs776853139
|
0.00009
|
|
NM_002471.4(MYH6):c.4651-3C>A
|
rs572175190
|
0.00009
|
|
NM_002471.4(MYH6):c.4828C>T (p.Arg1610Cys)
|
rs780726611
|
0.00009
|
|
NM_002633.3(PGM1):c.253C>T (p.Arg85Cys)
|
rs150286818
|
0.00009
|
|
NM_003476.5(CSRP3):c.190C>T (p.Arg64Cys)
|
rs368392588
|
0.00009
|
|
NM_003476.5(CSRP3):c.272A>T (p.Gln91Leu)
|
rs727504436
|
0.00009
|
|
NM_003476.5(CSRP3):c.379G>A (p.Val127Ile)
|
rs149201422
|
0.00009
|
|
NM_003476.5(CSRP3):c.49G>A (p.Val17Ile)
|
rs767932680
|
0.00009
|
|
NM_003673.4(TCAP):c.388C>T (p.Arg130Cys)
|
rs374886575
|
0.00009
|
|
NM_003673.4(TCAP):c.448G>A (p.Gly150Ser)
|
rs762850913
|
0.00009
|
|
NM_003673.4(TCAP):c.97C>T (p.Arg33Trp)
|
rs145524909
|
0.00009
|
|
NM_003803.4(MYOM1):c.1466A>G (p.Tyr489Cys)
|
rs369422118
|
0.00009
|
|
NM_003803.4(MYOM1):c.1991G>A (p.Arg664His)
|
rs373489373
|
0.00009
|
|
NM_003803.4(MYOM1):c.2137C>T (p.Arg713Cys)
|
rs375858580
|
0.00009
|
|
NM_004281.4(BAG3):c.554C>T (p.Ser185Leu)
|
rs730880054
|
0.00009
|
|
NM_004281.4(BAG3):c.605C>T (p.Pro202Leu)
|
rs556000090
|
0.00009
|
|
NM_004281.4(BAG3):c.616A>C (p.Ile206Leu)
|
rs199700646
|
0.00009
|
|
NM_004415.4(DSP):c.424C>T (p.Leu142Phe)
|
rs373769397
|
0.00009
|
|
NM_004517.4(ILK):c.466G>A (p.Gly156Ser)
|
rs199790448
|
0.00009
|
|
NM_004517.4(ILK):c.962A>G (p.Asn321Ser)
|
rs570806647
|
0.00009
|
|
NM_006073.4(TRDN):c.1808G>C (p.Gly603Ala)
|
rs766406818
|
0.00009
|
|
NM_006073.4(TRDN):c.727A>G (p.Thr243Ala)
|
rs376208769
|
0.00009
|
|
NM_006073.4(TRDN):c.884C>T (p.Pro295Leu)
|
rs201899630
|
0.00009
|
|
NM_006393.3(NEBL):c.1652C>T (p.Thr551Ile)
|
rs191012363
|
0.00009
|
|
NM_006440.5(TXNRD2):c.1549C>T (p.Pro517Ser)
|
rs756196216
|
0.00009
|
|
NM_006440.5(TXNRD2):c.745C>T (p.Arg249Cys)
|
rs557142042
|
0.00009
|
|
NM_006912.6(RIT1):c.634C>T (p.Arg212Trp)
|
rs563231684
|
0.00009
|
|
NM_012082.4(ZFPM2):c.74A>G (p.Glu25Gly)
|
rs371244942
|
0.00009
|
|
NM_013266.4(CTNNA3):c.1175C>T (p.Thr392Met)
|
rs146777494
|
0.00009
|
|
NM_013266.4(CTNNA3):c.1507A>C (p.Ile503Leu)
|
rs147802834
|
0.00009
|
|
NM_013266.4(CTNNA3):c.1604G>A (p.Arg535His)
|
rs139378888
|
0.00009
|
|
NM_013266.4(CTNNA3):c.1790C>T (p.Ser597Leu)
|
rs780346090
|
0.00009
|
|
NM_013266.4(CTNNA3):c.1979C>T (p.Ala660Val)
|
rs778640435
|
0.00009
|
|
NM_013266.4(CTNNA3):c.448C>T (p.His150Tyr)
|
rs368622093
|
0.00009
|
|
NM_015374.3(SUN2):c.1160G>A (p.Arg387His)
|
rs775651955
|
0.00009
|
|
NM_015374.3(SUN2):c.1237C>T (p.Arg413Trp)
|
rs534367476
|
0.00009
|
|
NM_020297.4(ABCC9):c.1320+1G>A
|
rs139620148
|
0.00009
|
|
NM_022114.4(PRDM16):c.1537G>A (p.Gly513Ser)
|
rs200278862
|
0.00009
|
|
NM_022114.4(PRDM16):c.1958T>C (p.Leu653Ser)
|
rs371011963
|
0.00009
|
|
NM_022114.4(PRDM16):c.2503G>A (p.Ala835Thr)
|
rs755872965
|
0.00009
|
|
NM_022114.4(PRDM16):c.2530C>A (p.Pro844Thr)
|
rs767418172
|
0.00009
|
|
NM_022114.4(PRDM16):c.2813C>T (p.Thr938Met)
|
rs541102613
|
0.00009
|
|
NM_022114.4(PRDM16):c.2953G>A (p.Asp985Asn)
|
rs758565663
|
0.00009
|
|
NM_024334.3(TMEM43):c.271A>G (p.Ile91Val)
|
rs144811578
|
0.00009
|
|
NM_024334.3(TMEM43):c.865G>A (p.Gly289Arg)
|
rs730880226
|
0.00009
|
|
NM_024422.6(DSC2):c.1802A>C (p.Glu601Ala)
|
rs537381028
|
0.00009
|
|
NM_024422.6(DSC2):c.23G>T (p.Gly8Val)
|
rs794728063
|
0.00009
|
|
NM_024422.6(DSC2):c.82G>T (p.Ala28Ser)
|
rs139979318
|
0.00009
|
|
NM_033118.4(MYLK2):c.1649G>A (p.Cys550Tyr)
|
rs771059154
|
0.00009
|
|
NM_144573.4(NEXN):c.1435C>T (p.Leu479Phe)
|
rs181520023
|
0.00009
|
|
NM_144573.4(NEXN):c.392A>G (p.Gln131Arg)
|
rs397517858
|
0.00009
|
|
NM_182914.3(SYNE2):c.10331C>T (p.Ser3444Leu)
|
rs372338837
|
0.00009
|
|
NM_182914.3(SYNE2):c.1060C>T (p.Arg354Trp)
|
rs374073818
|
0.00009
|
|
NM_182914.3(SYNE2):c.12656C>T (p.Ala4219Val)
|
rs767658277
|
0.00009
|
|
NM_182914.3(SYNE2):c.14104C>A (p.Pro4702Thr)
|
rs111880729
|
0.00009
|
|
NM_182914.3(SYNE2):c.14969A>G (p.Asn4990Ser)
|
rs577518631
|
0.00009
|
|
NM_182914.3(SYNE2):c.16700C>T (p.Thr5567Met)
|
rs527368157
|
0.00009
|
|
NM_182914.3(SYNE2):c.3830G>A (p.Arg1277His)
|
rs367549881
|
0.00009
|
|
NM_182914.3(SYNE2):c.6011G>A (p.Gly2004Glu)
|
rs771507854
|
0.00009
|
|
NM_182914.3(SYNE2):c.6056T>G (p.Met2019Arg)
|
rs200404150
|
0.00009
|
|
NM_182914.3(SYNE2):c.6664C>G (p.Pro2222Ala)
|
rs201838350
|
0.00009
|
|
NM_182914.3(SYNE2):c.7039G>T (p.Ala2347Ser)
|
rs759251788
|
0.00009
|
|
NM_182914.3(SYNE2):c.907A>G (p.Met303Val)
|
rs377535370
|
0.00009
|
|
NM_182961.4(SYNE1):c.13421G>A (p.Arg4474Gln)
|
rs771898973
|
0.00009
|
|
NM_182961.4(SYNE1):c.13949G>A (p.Arg4650Gln)
|
rs763557674
|
0.00009
|
|
NM_182961.4(SYNE1):c.14018G>A (p.Arg4673Gln)
|
rs144963785
|
0.00009
|
|
NM_182961.4(SYNE1):c.15259C>T (p.Arg5087Trp)
|
rs767636254
|
0.00009
|
|
NM_182961.4(SYNE1):c.15350T>C (p.Met5117Thr)
|
rs150761564
|
0.00009
|
|
NM_182961.4(SYNE1):c.15413C>T (p.Ala5138Val)
|
rs143916942
|
0.00009
|
|
NM_182961.4(SYNE1):c.16211C>T (p.Ala5404Val)
|
rs140850000
|
0.00009
|
|
NM_182961.4(SYNE1):c.16405T>A (p.Leu5469Ile)
|
rs771840766
|
0.00009
|
|
NM_182961.4(SYNE1):c.1708T>C (p.Tyr570His)
|
rs199962439
|
0.00009
|
|
NM_182961.4(SYNE1):c.17512A>C (p.Thr5838Pro)
|
rs752135269
|
0.00009
|
|
NM_182961.4(SYNE1):c.17930C>T (p.Thr5977Met)
|
rs767144952
|
0.00009
|
|
NM_182961.4(SYNE1):c.18085G>A (p.Val6029Ile)
|
rs757079165
|
0.00009
|
|
NM_182961.4(SYNE1):c.19255C>G (p.Gln6419Glu)
|
rs150700669
|
0.00009
|
|
NM_182961.4(SYNE1):c.19606T>C (p.Phe6536Leu)
|
rs138707300
|
0.00009
|
|
NM_182961.4(SYNE1):c.20143G>A (p.Val6715Met)
|
rs145185413
|
0.00009
|
|
NM_182961.4(SYNE1):c.20159A>C (p.Glu6720Ala)
|
rs367790193
|
0.00009
|
|
NM_182961.4(SYNE1):c.20182C>T (p.Arg6728Cys)
|
rs150063353
|
0.00009
|
|
NM_182961.4(SYNE1):c.21493G>T (p.Ala7165Ser)
|
rs150723622
|
0.00009
|
|
NM_182961.4(SYNE1):c.21952G>A (p.Ala7318Thr)
|
rs145494541
|
0.00009
|
|
NM_182961.4(SYNE1):c.2210T>C (p.Val737Ala)
|
rs746347703
|
0.00009
|
|
NM_182961.4(SYNE1):c.24977-1718G>A
|
rs370143116
|
0.00009
|
|
NM_182961.4(SYNE1):c.25085C>T (p.Thr8362Met)
|
rs147814237
|
0.00009
|
|
NM_182961.4(SYNE1):c.254G>A (p.Arg85Gln)
|
rs575386895
|
0.00009
|
|
NM_182961.4(SYNE1):c.4544C>T (p.Thr1515Ile)
|
rs148785548
|
0.00009
|
|
NM_182961.4(SYNE1):c.9262G>A (p.Ala3088Thr)
|
rs398123005
|
0.00009
|
|
NM_000023.4(SGCA):c.983A>T (p.Asp328Val)
|
rs966135192
|
0.00008
|
|
NM_000126.4(ETFA):c.505C>T (p.Arg169Cys)
|
rs369713466
|
0.00008
|
|
NM_000231.3(SGCG):c.142G>A (p.Val48Ile)
|
rs369936288
|
0.00008
|
|
NM_000231.3(SGCG):c.455C>T (p.Thr152Ile)
|
rs201329880
|
0.00008
|
|
NM_000256.3(MYBPC3):c.2882C>T (p.Pro961Leu)
|
rs373056282
|
0.00008
|
|
NM_000257.4(MYH7):c.1407T>C (p.Asp469=)
|
rs112172952
|
0.00008
|
|
NM_000257.4(MYH7):c.241C>T (p.Pro81Ser)
|
rs1489940065
|
0.00008
|
|
NM_000337.6(SGCD):c.566A>G (p.Lys189Arg)
|
rs538002169
|
0.00008
|
|
NM_001005242.3(PKP2):c.194C>T (p.Ala65Val)
|
rs139924723
|
0.00008
|
|
NM_001035.3(RYR2):c.12047T>A (p.Phe4016Tyr)
|
rs375021201
|
0.00008
|
|
NM_001035.3(RYR2):c.1318G>A (p.Ala440Thr)
|
rs371878264
|
0.00008
|
|
NM_001035.3(RYR2):c.1454G>A (p.Arg485Gln)
|
rs752144775
|
0.00008
|
|
NM_001035.3(RYR2):c.3721G>A (p.Val1241Ile)
|
rs185715460
|
0.00008
|
|
NM_001035.3(RYR2):c.629C>T (p.Thr210Ile)
|
rs371086868
|
0.00008
|
|
NM_001035.3(RYR2):c.6445A>G (p.Ile2149Val)
|
rs767258350
|
0.00008
|
|
NM_001105206.3(LAMA4):c.1522G>A (p.Ala508Thr)
|
rs139730568
|
0.00008
|
|
NM_001105206.3(LAMA4):c.2189G>A (p.Arg730His)
|
rs781825990
|
0.00008
|
|
NM_001105206.3(LAMA4):c.221C>A (p.Thr74Asn)
|
rs782226255
|
0.00008
|
|
NM_001105206.3(LAMA4):c.2599C>A (p.Pro867Thr)
|
rs782162498
|
0.00008
|
|
NM_001105206.3(LAMA4):c.4199A>G (p.Tyr1400Cys)
|
rs782041997
|
0.00008
|
|
NM_001105206.3(LAMA4):c.4405G>A (p.Ala1469Thr)
|
rs727504595
|
0.00008
|
|
NM_001105206.3(LAMA4):c.4715T>G (p.Leu1572Arg)
|
rs782367093
|
0.00008
|
|
NM_001130965.3(SUN1):c.1240G>A (p.Ala414Thr)
|
rs574113932
|
0.00008
|
|
NM_001130965.3(SUN1):c.1787G>A (p.Arg596His)
|
rs372947867
|
0.00008
|
|
NM_001130965.3(SUN1):c.2344G>A (p.Glu782Lys)
|
rs373928196
|
0.00008
|
|
NM_001130965.3(SUN1):c.683G>A (p.Arg228His)
|
rs773328901
|
0.00008
|
|
NM_001130965.3(SUN1):c.962T>G (p.Leu321Trp)
|
rs199719259
|
0.00008
|
|
NM_001134363.3(RBM20):c.1858G>A (p.Asp620Asn)
|
rs541330074
|
0.00008
|
|
NM_001232.4(CASQ2):c.1015-3C>T
|
rs375320117
|
0.00008
|
|
NM_001232.4(CASQ2):c.748C>T (p.Arg250Cys)
|
rs151115064
|
0.00008
|
|
NM_001232.4(CASQ2):c.758G>A (p.Arg253His)
|
rs199571249
|
0.00008
|
|
NM_001232.4(CASQ2):c.860T>A (p.Ile287Asn)
|
rs368165922
|
0.00008
|
|
NM_001267550.2(TTN):c.105737C>G (p.Ala35246Gly)
|
rs370476812
|
0.00008
|
|
NM_001267550.2(TTN):c.105757G>A (p.Val35253Met)
|
rs373655492
|
0.00008
|
|
NM_001267550.2(TTN):c.106511G>C (p.Ser35504Thr)
|
rs575070622
|
0.00008
|
|
NM_001267550.2(TTN):c.107105C>T (p.Pro35702Leu)
|
rs772957495
|
0.00008
|
|
NM_001267550.2(TTN):c.12181G>A (p.Ala4061Thr)
|
rs397517829
|
0.00008
|
|
NM_001267550.2(TTN):c.16156A>G (p.Met5386Val)
|
rs567457007
|
0.00008
|
|
NM_001267550.2(TTN):c.20465A>G (p.Asn6822Ser)
|
rs371518764
|
0.00008
|
|
NM_001267550.2(TTN):c.22420G>A (p.Ala7474Thr)
|
rs759713604
|
0.00008
|
|
NM_001267550.2(TTN):c.42839A>G (p.Asp14280Gly)
|
rs181902304
|
0.00008
|
|
NM_001267550.2(TTN):c.48556C>T (p.Arg16186Cys)
|
rs377563403
|
0.00008
|
|
NM_001267550.2(TTN):c.49000G>A (p.Val16334Met)
|
rs541384076
|
0.00008
|
|
NM_001267550.2(TTN):c.51247G>T (p.Val17083Phe)
|
rs746817480
|
0.00008
|
|
NM_001267550.2(TTN):c.55396G>A (p.Gly18466Arg)
|
rs772677752
|
0.00008
|
|
NM_001267550.2(TTN):c.57559G>A (p.Val19187Ile)
|
rs764203267
|
0.00008
|
|
NM_001267550.2(TTN):c.65515G>A (p.Ala21839Thr)
|
rs56378177
|
0.00008
|
|
NM_001267550.2(TTN):c.68097G>C (p.Gln22699His)
|
rs727504520
|
0.00008
|
|
NM_001267550.2(TTN):c.6959G>A (p.Arg2320His)
|
rs374615369
|
0.00008
|
|
NM_001267550.2(TTN):c.70163G>A (p.Arg23388Gln)
|
rs55853138
|
0.00008
|
|
NM_001267550.2(TTN):c.73319T>C (p.Ile24440Thr)
|
rs370931683
|
0.00008
|
|
NM_001267550.2(TTN):c.85334G>A (p.Cys28445Tyr)
|
rs773226749
|
0.00008
|
|
NM_001267550.2(TTN):c.88246G>T (p.Val29416Phe)
|
rs755325663
|
0.00008
|
|
NM_001267550.2(TTN):c.92167C>T (p.Pro30723Ser)
|
rs758537709
|
0.00008
|
|
NM_001267550.2(TTN):c.92806G>A (p.Val30936Ile)
|
rs200476500
|
0.00008
|
|
NM_001267550.2(TTN):c.95320A>G (p.Lys31774Glu)
|
rs762265902
|
0.00008
|
|
NM_001267550.2(TTN):c.96172C>T (p.Arg32058Trp)
|
rs201463708
|
0.00008
|
|
NM_001386795.1(DTNA):c.482T>C (p.Val161Ala)
|
rs199960642
|
0.00008
|
|
NM_001458.5(FLNC):c.2602A>G (p.Ser868Gly)
|
rs201002262
|
0.00008
|
|
NM_001927.4(DES):c.216C>A (p.Ser72Arg)
|
rs375719734
|
0.00008
|
|
NM_002230.4(JUP):c.475G>T (p.Val159Leu)
|
rs782702266
|
0.00008
|
|
NM_002230.4(JUP):c.809T>A (p.Leu270Gln)
|
rs794729040
|
0.00008
|
|
NM_002471.4(MYH6):c.1002T>A (p.Asp334Glu)
|
rs371859345
|
0.00008
|
|
NM_002471.4(MYH6):c.2591C>T (p.Thr864Met)
|
rs200153625
|
0.00008
|
|
NM_002471.4(MYH6):c.3178G>A (p.Asp1060Asn)
|
rs775560235
|
0.00008
|
|
NM_002471.4(MYH6):c.3274C>G (p.Gln1092Glu)
|
rs567433969
|
0.00008
|
|
NM_002471.4(MYH6):c.4016G>A (p.Arg1339Gln)
|
rs766238876
|
0.00008
|
|
NM_002471.4(MYH6):c.4727G>A (p.Arg1576Gln)
|
rs771898553
|
0.00008
|
|
NM_003803.4(MYOM1):c.3413G>A (p.Arg1138His)
|
rs148782330
|
0.00008
|
|
NM_005921.2(MAP3K1):c.1510G>A (p.Glu504Lys)
|
rs764525244
|
0.00008
|
|
NM_006073.4(TRDN):c.1137T>G (p.Asp379Glu)
|
rs200706450
|
0.00008
|
|
NM_006393.3(NEBL):c.1540G>T (p.Ala514Ser)
|
rs781572930
|
0.00008
|
|
NM_006393.3(NEBL):c.1946A>G (p.Gln649Arg)
|
rs770416802
|
0.00008
|
|
NM_006440.5(TXNRD2):c.1030G>T (p.Asp344Tyr)
|
rs373839226
|
0.00008
|
|
NM_012082.4(ZFPM2):c.2206C>T (p.Arg736Cys)
|
rs371546027
|
0.00008
|
|
NM_014000.3(VCL):c.1490T>C (p.Ile497Thr)
|
rs572757800
|
0.00008
|
|
NM_014000.3(VCL):c.1621C>G (p.Leu541Val)
|
rs370229150
|
0.00008
|
|
NM_014000.3(VCL):c.2444A>G (p.Lys815Arg)
|
rs373010557
|
0.00008
|
|
NM_014476.6(PDLIM3):c.330+6C>T
|
rs373377356
|
0.00008
|
|
NM_015374.3(SUN2):c.1190+6G>A
|
rs762466396
|
0.00008
|
|
NM_016599.5(MYOZ2):c.479C>T (p.Pro160Leu)
|
rs200791464
|
0.00008
|
|
NM_020433.5(JPH2):c.829G>T (p.Ala277Ser)
|
rs368516996
|
0.00008
|
|
NM_022114.4(PRDM16):c.2033C>G (p.Pro678Arg)
|
rs368139988
|
0.00008
|
|
NM_022114.4(PRDM16):c.567T>G (p.Ser189Arg)
|
rs368081666
|
0.00008
|
|
NM_024334.3(TMEM43):c.428C>T (p.Thr143Met)
|
rs544554435
|
0.00008
|
|
NM_024422.6(DSC2):c.295T>A (p.Ser99Thr)
|
rs199714872
|
0.00008
|
|
NM_024422.6(DSC2):c.4G>A (p.Glu2Lys)
|
rs762556795
|
0.00008
|
|
NM_024422.6(DSC2):c.596G>A (p.Arg199His)
|
rs374707462
|
0.00008
|
|
NM_032578.4(MYPN):c.2876G>A (p.Gly959Asp)
|
rs771893315
|
0.00008
|
|
NM_032578.4(MYPN):c.3793+4A>G
|
rs145946587
|
0.00008
|
|
NM_032578.4(MYPN):c.757G>C (p.Gly253Arg)
|
rs201983087
|
0.00008
|
|
NM_033118.4(MYLK2):c.719T>C (p.Val240Ala)
|
rs531015124
|
0.00008
|
|
NM_145046.5(CALR3):c.923G>T (p.Arg308Ile)
|
rs369518093
|
0.00008
|
|
NM_152594.3(SPRED1):c.587C>T (p.Thr196Ile)
|
rs147474792
|
0.00008
|
|
NM_182914.3(SYNE2):c.10864G>C (p.Glu3622Gln)
|
rs374132878
|
0.00008
|
|
NM_182914.3(SYNE2):c.11843T>C (p.Val3948Ala)
|
rs372848864
|
0.00008
|
|
NM_182914.3(SYNE2):c.12437A>G (p.His4146Arg)
|
rs375035375
|
0.00008
|
|
NM_182914.3(SYNE2):c.16127A>G (p.Gln5376Arg)
|
rs753646712
|
0.00008
|
|
NM_182914.3(SYNE2):c.16905+4A>C
|
rs369093036
|
0.00008
|
|
NM_182914.3(SYNE2):c.17630G>A (p.Arg5877Gln)
|
rs746459100
|
0.00008
|
|
NM_182914.3(SYNE2):c.17717C>A (p.Ala5906Asp)
|
rs755652581
|
0.00008
|
|
NM_182914.3(SYNE2):c.3664C>T (p.Arg1222Trp)
|
rs773994020
|
0.00008
|
|
NM_182914.3(SYNE2):c.3889A>G (p.Met1297Val)
|
rs368642506
|
0.00008
|
|
NM_182914.3(SYNE2):c.9404A>G (p.Lys3135Arg)
|
rs376121197
|
0.00008
|
|
NM_182961.4(SYNE1):c.10312G>A (p.Glu3438Lys)
|
rs550171329
|
0.00008
|
|
NM_182961.4(SYNE1):c.12872C>T (p.Ala4291Val)
|
rs151250199
|
0.00008
|
|
NM_182961.4(SYNE1):c.16552C>T (p.Arg5518Trp)
|
rs377410590
|
0.00008
|
|
NM_182961.4(SYNE1):c.17150A>C (p.Glu5717Ala)
|
rs780396166
|
0.00008
|
|
NM_182961.4(SYNE1):c.18345G>C (p.Glu6115Asp)
|
rs749005373
|
0.00008
|
|
NM_182961.4(SYNE1):c.19015T>G (p.Tyr6339Asp)
|
rs140567583
|
0.00008
|
|
NM_182961.4(SYNE1):c.19199G>A (p.Arg6400His)
|
rs746141355
|
0.00008
|
|
NM_182961.4(SYNE1):c.23933G>A (p.Arg7978Gln)
|
rs774319570
|
0.00008
|
|
NM_182961.4(SYNE1):c.24635G>A (p.Arg8212His)
|
rs766462111
|
0.00008
|
|
NM_182961.4(SYNE1):c.2528G>A (p.Arg843His)
|
rs191723029
|
0.00008
|
|
NM_182961.4(SYNE1):c.25625G>A (p.Arg8542Gln)
|
rs538407539
|
0.00008
|
|
NM_182961.4(SYNE1):c.25786A>G (p.Met8596Val)
|
rs746864807
|
0.00008
|
|
NM_182961.4(SYNE1):c.25922G>A (p.Arg8641Gln)
|
rs774776856
|
0.00008
|
|
NM_182961.4(SYNE1):c.298G>A (p.Glu100Lys)
|
rs187117263
|
0.00008
|
|
NM_182961.4(SYNE1):c.6268G>C (p.Glu2090Gln)
|
rs374482089
|
0.00008
|
|
NM_182961.4(SYNE1):c.7052G>A (p.Ser2351Asn)
|
rs151039167
|
0.00008
|
|
NM_182961.4(SYNE1):c.9448G>A (p.Ala3150Thr)
|
rs141821444
|
0.00008
|
|
NM_182961.4(SYNE1):c.9719T>C (p.Leu3240Pro)
|
rs56308121
|
0.00008
|
|
NM_000023.4(SGCA):c.312+6G>A
|
rs371433770
|
0.00007
|
|
NM_000023.4(SGCA):c.350G>A (p.Arg117Gln)
|
rs117672945
|
0.00007
|
|
NM_000023.4(SGCA):c.766G>A (p.Glu256Lys)
|
rs746698767
|
0.00007
|
|
NM_000152.5(GAA):c.1392G>C (p.Arg464Ser)
|
rs372786811
|
0.00007
|
|
NM_000152.5(GAA):c.1504A>G (p.Met502Val)
|
rs376067362
|
0.00007
|
|
NM_000152.5(GAA):c.658G>T (p.Val220Leu)
|
rs530478036
|
0.00007
|
|
NM_000152.5(GAA):c.857C>T (p.Thr286Met)
|
rs375310352
|
0.00007
|
|
NM_000182.5(HADHA):c.1637A>G (p.Tyr546Cys)
|
rs370170143
|
0.00007
|
|
NM_000182.5(HADHA):c.1789A>G (p.Lys597Glu)
|
rs368455378
|
0.00007
|
|
NM_000231.3(SGCG):c.792C>G (p.Ile264Met)
|
rs377620885
|
0.00007
|
|
NM_000256.3(MYBPC3):c.2672G>A (p.Arg891Gln)
|
rs727504378
|
0.00007
|
|
NM_000256.3(MYBPC3):c.2765G>A (p.Gly922Glu)
|
rs751224775
|
0.00007
|
|
NM_000256.3(MYBPC3):c.3049G>A (p.Glu1017Lys)
|
rs368180702
|
0.00007
|
|
NM_000256.3(MYBPC3):c.3107G>A (p.Arg1036His)
|
rs374255381
|
0.00007
|
|
NM_000256.3(MYBPC3):c.3742G>A (p.Gly1248Arg)
|
rs202147520
|
0.00007
|
|
NM_000256.3(MYBPC3):c.814C>T (p.Arg272Cys)
|
rs397516075
|
0.00007
|
|
NM_000256.3(MYBPC3):c.844C>T (p.Arg282Trp)
|
rs727504234
|
0.00007
|
|
NM_001005242.3(PKP2):c.2360A>G (p.Tyr787Cys)
|
rs200411128
|
0.00007
|
|
NM_001035.3(RYR2):c.13329-3T>C
|
rs542440592
|
0.00007
|
|
NM_001035.3(RYR2):c.1396C>G (p.Pro466Ala)
|
rs376612295
|
0.00007
|
|
NM_001035.3(RYR2):c.2104G>A (p.Gly702Arg)
|
rs569386030
|
0.00007
|
|
NM_001035.3(RYR2):c.5822G>A (p.Arg1941His)
|
rs373600053
|
0.00007
|
|
NM_001105206.3(LAMA4):c.163G>T (p.Val55Leu)
|
rs377370824
|
0.00007
|
|
NM_001105206.3(LAMA4):c.1858G>A (p.Ala620Thr)
|
rs374001056
|
0.00007
|
|
NM_001105206.3(LAMA4):c.2090G>A (p.Arg697His)
|
rs397516723
|
0.00007
|
|
NM_001105206.3(LAMA4):c.5030G>A (p.Arg1677His)
|
rs782174781
|
0.00007
|
|
NM_001105206.3(LAMA4):c.874G>A (p.Glu292Lys)
|
rs781838464
|
0.00007
|
|
NM_001105206.3(LAMA4):c.889G>A (p.Gly297Arg)
|
rs375305822
|
0.00007
|
|
NM_001122630.2(CDKN1C):c.853C>T (p.Pro285Ser)
|
rs531059713
|
0.00007
|
|
NM_001130965.3(SUN1):c.1676T>C (p.Leu559Pro)
|
rs370324367
|
0.00007
|
|
NM_001232.4(CASQ2):c.475G>A (p.Glu159Lys)
|
rs375598471
|
0.00007
|
|
NM_001232.4(CASQ2):c.503T>C (p.Ile168Thr)
|
rs148057999
|
0.00007
|
|
NM_001267550.2(TTN):c.100396C>T (p.Arg33466Cys)
|
rs371908649
|
0.00007
|
|
NM_001267550.2(TTN):c.103828C>T (p.Arg34610Cys)
|
rs376443365
|
0.00007
|
|
NM_001267550.2(TTN):c.105260C>T (p.Thr35087Met)
|
rs397517795
|
0.00007
|
|
NM_001267550.2(TTN):c.14302G>A (p.Gly4768Ser)
|
rs727503652
|
0.00007
|
|
NM_001267550.2(TTN):c.21789G>C (p.Trp7263Cys)
|
rs377544260
|
0.00007
|
|
NM_001267550.2(TTN):c.25717A>C (p.Ile8573Leu)
|
rs142609645
|
0.00007
|
|
NM_001267550.2(TTN):c.25853G>A (p.Gly8618Glu)
|
rs369947439
|
0.00007
|
|
NM_001267550.2(TTN):c.27193T>C (p.Cys9065Arg)
|
rs201229221
|
0.00007
|
|
NM_001267550.2(TTN):c.2743C>T (p.Arg915Cys)
|
rs539652641
|
0.00007
|
|
NM_001267550.2(TTN):c.28098C>G (p.Ser9366Arg)
|
rs374930292
|
0.00007
|
|
NM_001267550.2(TTN):c.33340+5A>C
|
rs373367032
|
0.00007
|
|
NM_001267550.2(TTN):c.3368C>G (p.Thr1123Ser)
|
rs773799748
|
0.00007
|
|
NM_001267550.2(TTN):c.40141+6C>T
|
rs750448649
|
0.00007
|
|
NM_001267550.2(TTN):c.4081A>C (p.Ile1361Leu)
|
rs145308734
|
0.00007
|
|
NM_001267550.2(TTN):c.44423A>C (p.Lys14808Thr)
|
rs374419129
|
0.00007
|
|
NM_001267550.2(TTN):c.47693G>A (p.Arg15898Gln)
|
rs376278449
|
0.00007
|
|
NM_001267550.2(TTN):c.53807G>A (p.Arg17936His)
|
rs727503604
|
0.00007
|
|
NM_001267550.2(TTN):c.54194G>A (p.Arg18065His)
|
rs375895183
|
0.00007
|
|
NM_001267550.2(TTN):c.56533A>C (p.Thr18845Pro)
|
rs375000725
|
0.00007
|
|
NM_001267550.2(TTN):c.56947G>A (p.Ala18983Thr)
|
rs377000174
|
0.00007
|
|
NM_001267550.2(TTN):c.62290G>C (p.Glu20764Gln)
|
rs397517651
|
0.00007
|
|
NM_001267550.2(TTN):c.63578G>A (p.Arg21193His)
|
rs372267046
|
0.00007
|
|
NM_001267550.2(TTN):c.70172T>C (p.Ile23391Thr)
|
rs375202101
|
0.00007
|
|
NM_001267550.2(TTN):c.72331G>C (p.Ala24111Pro)
|
rs369671334
|
0.00007
|
|
NM_001267550.2(TTN):c.72824A>T (p.Lys24275Ile)
|
rs199860952
|
0.00007
|
|
NM_001267550.2(TTN):c.88117G>A (p.Glu29373Lys)
|
rs762557803
|
0.00007
|
|
NM_001267550.2(TTN):c.9326A>G (p.Lys3109Arg)
|
rs753036867
|
0.00007
|
|
NM_001267550.2(TTN):c.9571C>G (p.Gln3191Glu)
|
rs33997263
|
0.00007
|
|
NM_001267550.2(TTN):c.95962G>A (p.Val31988Met)
|
rs756469423
|
0.00007
|
|
NM_001267550.2(TTN):c.98225G>A (p.Gly32742Asp)
|
rs201850303
|
0.00007
|
|
NM_001276345.2(TNNT2):c.762G>T (p.Glu254Asp)
|
rs45466197
|
0.00007
|
|
NM_001458.5(FLNC):c.2419C>T (p.Pro807Ser)
|
rs946201226
|
0.00007
|
|
NM_001458.5(FLNC):c.8020G>A (p.Gly2674Ser)
|
rs372338218
|
0.00007
|
|
NM_001927.4(DES):c.193G>A (p.Gly65Ser)
|
rs397516692
|
0.00007
|
|
NM_001943.5(DSG2):c.1397C>T (p.Thr466Ile)
|
rs769137357
|
0.00007
|
|
NM_001985.3(ETFB):c.761G>A (p.Arg254Gln)
|
rs145173884
|
0.00007
|
|
NM_002230.4(JUP):c.2030C>T (p.Pro677Leu)
|
rs782622653
|
0.00007
|
|
NM_002230.4(JUP):c.356C>T (p.Pro119Leu)
|
rs376123010
|
0.00007
|
|
NM_002230.4(JUP):c.526C>T (p.Arg176Trp)
|
rs368336007
|
0.00007
|
|
NM_002230.4(JUP):c.529C>T (p.Arg177Trp)
|
rs148484473
|
0.00007
|
|
NM_002230.4(JUP):c.56C>T (p.Thr19Ile)
|
rs570878629
|
0.00007
|
|
NM_002471.4(MYH6):c.3808C>T (p.Arg1270Cys)
|
rs371849826
|
0.00007
|
|
NM_002471.4(MYH6):c.4036C>T (p.Arg1346Trp)
|
rs372736126
|
0.00007
|
|
NM_002471.4(MYH6):c.4666G>A (p.Glu1556Lys)
|
rs148582147
|
0.00007
|
|
NM_002471.4(MYH6):c.5501G>A (p.Arg1834His)
|
rs202132499
|
0.00007
|
|
NM_002471.4(MYH6):c.642+4C>T
|
rs369858520
|
0.00007
|
|
NM_002471.4(MYH6):c.679G>A (p.Ala227Thr)
|
rs201828188
|
0.00007
|
|
NM_003803.4(MYOM1):c.3325G>A (p.Val1109Ile)
|
rs377448983
|
0.00007
|
|
NM_003803.4(MYOM1):c.4045C>T (p.Arg1349Trp)
|
rs762476268
|
0.00007
|
|
NM_003803.4(MYOM1):c.4046G>A (p.Arg1349Gln)
|
rs112504951
|
0.00007
|
|
NM_003803.4(MYOM1):c.554C>T (p.Thr185Met)
|
rs761722591
|
0.00007
|
|
NM_004100.5(EYA4):c.148A>T (p.Ser50Cys)
|
rs932450184
|
0.00007
|
|
NM_004281.4(BAG3):c.827G>A (p.Arg276Gln)
|
rs372970842
|
0.00007
|
|
NM_004281.4(BAG3):c.892G>A (p.Val298Met)
|
rs150048651
|
0.00007
|
|
NM_004453.4(ETFDH):c.1733G>A (p.Arg578Gln)
|
rs200290334
|
0.00007
|
|
NM_004453.4(ETFDH):c.424G>A (p.Val142Ile)
|
rs146982178
|
0.00007
|
|
NM_004517.4(ILK):c.184G>A (p.Val62Ile)
|
rs768146142
|
0.00007
|
|
NM_005343.4(HRAS):c.506G>A (p.Arg169Gln)
|
rs142218590
|
0.00007
|
|
NM_006073.4(TRDN):c.1063G>T (p.Ala355Ser)
|
rs776657049
|
0.00007
|
|
NM_006073.4(TRDN):c.1187-3C>T
|
rs375421435
|
0.00007
|
|
NM_006073.4(TRDN):c.1801C>G (p.Pro601Ala)
|
rs376214235
|
0.00007
|
|
NM_006393.3(NEBL):c.1366A>G (p.Ile456Val)
|
rs144402571
|
0.00007
|
|
NM_006393.3(NEBL):c.2848A>G (p.Met950Val)
|
rs201838351
|
0.00007
|
|
NM_006393.3(NEBL):c.535C>T (p.Arg179Ter)
|
rs370153729
|
0.00007
|
|
NM_006440.5(TXNRD2):c.175G>A (p.Ala59Thr)
|
rs752863555
|
0.00007
|
|
NM_006440.5(TXNRD2):c.611A>G (p.Tyr204Cys)
|
rs199765650
|
0.00007
|
|
NM_006939.4(SOS2):c.2758A>G (p.Ile920Val)
|
rs755783805
|
0.00007
|
|
NM_013266.4(CTNNA3):c.1691C>T (p.Thr564Met)
|
rs538149393
|
0.00007
|
|
NM_014908.4(DOLK):c.509T>G (p.Val170Gly)
|
rs745609223
|
0.00007
|
|
NM_020433.5(JPH2):c.1565G>A (p.Arg522Gln)
|
rs980412081
|
0.00007
|
|
NM_021167.5(GATAD1):c.375+3A>G
|
rs1227573993
|
0.00007
|
|
NM_021167.5(GATAD1):c.766A>G (p.Thr256Ala)
|
rs778560008
|
0.00007
|
|
NM_022114.4(PRDM16):c.115G>A (p.Glu39Lys)
|
rs775285788
|
0.00007
|
|
NM_022114.4(PRDM16):c.1525G>A (p.Ala509Thr)
|
rs374937969
|
0.00007
|
|
NM_022114.4(PRDM16):c.1951G>A (p.Gly651Ser)
|
rs770305450
|
0.00007
|
|
NM_022114.4(PRDM16):c.197C>T (p.Ser66Leu)
|
rs374012976
|
0.00007
|
|
NM_022114.4(PRDM16):c.332G>A (p.Gly111Asp)
|
rs755705452
|
0.00007
|
|
NM_022114.4(PRDM16):c.403G>A (p.Val135Met)
|
rs372159539
|
0.00007
|
|
NM_032578.4(MYPN):c.140C>T (p.Pro47Leu)
|
rs777446804
|
0.00007
|
|
NM_032578.4(MYPN):c.185A>C (p.Asp62Ala)
|
rs370768715
|
0.00007
|
|
NM_032578.4(MYPN):c.2642A>T (p.Asn881Ile)
|
rs71584493
|
0.00007
|
|
NM_032578.4(MYPN):c.3065C>G (p.Ala1022Gly)
|
rs773991025
|
0.00007
|
|
NM_032578.4(MYPN):c.3103A>G (p.Met1035Val)
|
rs201975081
|
0.00007
|
|
NM_033118.4(MYLK2):c.223G>A (p.Gly75Ser)
|
rs746102821
|
0.00007
|
|
NM_144573.4(NEXN):c.1190G>A (p.Arg397Gln)
|
rs201806320
|
0.00007
|
|
NM_144573.4(NEXN):c.157G>A (p.Glu53Lys)
|
rs373778361
|
0.00007
|
|
NM_144573.4(NEXN):c.1996A>G (p.Thr666Ala)
|
rs374000722
|
0.00007
|
|
NM_144573.4(NEXN):c.586C>T (p.Arg196Cys)
|
rs369486891
|
0.00007
|
|
NM_145046.5(CALR3):c.724G>A (p.Asp242Asn)
|
rs146669521
|
0.00007
|
|
NM_181703.4(GJA5):c.592G>A (p.Val198Ile)
|
rs371086800
|
0.00007
|
|
NM_182914.3(SYNE2):c.10457A>G (p.Asp3486Gly)
|
rs768214736
|
0.00007
|
|
NM_182914.3(SYNE2):c.12492+4A>T
|
rs1016611009
|
0.00007
|
|
NM_182914.3(SYNE2):c.12782C>T (p.Pro4261Leu)
|
rs147278548
|
0.00007
|
|
NM_182914.3(SYNE2):c.16244G>T (p.Ser5415Ile)
|
rs377399289
|
0.00007
|
|
NM_182914.3(SYNE2):c.20702C>A (p.Thr6901Asn)
|
rs760936547
|
0.00007
|
|
NM_182914.3(SYNE2):c.2472G>A (p.Gln824=)
|
rs760909392
|
0.00007
|
|
NM_182914.3(SYNE2):c.4704G>C (p.Glu1568Asp)
|
rs112802347
|
0.00007
|
|
NM_182914.3(SYNE2):c.7151C>A (p.Ser2384Tyr)
|
rs759415502
|
0.00007
|
|
NM_182914.3(SYNE2):c.7457_7459del (p.Thr2486_Gly2487delinsArg)
|
rs775671986
|
0.00007
|
|
NM_182914.3(SYNE2):c.8861C>T (p.Ala2954Val)
|
rs369713092
|
0.00007
|
|
NM_182961.4(SYNE1):c.16786G>A (p.Val5596Met)
|
rs148158986
|
0.00007
|
|
NM_182961.4(SYNE1):c.19424G>A (p.Arg6475Gln)
|
rs781427258
|
0.00007
|
|
NM_182961.4(SYNE1):c.20200-3T>C
|
rs770710698
|
0.00007
|
|
NM_182961.4(SYNE1):c.26210G>T (p.Gly8737Val)
|
rs772814249
|
0.00007
|
|
NM_182961.4(SYNE1):c.2630A>G (p.Gln877Arg)
|
rs369192821
|
0.00007
|
|
NM_182961.4(SYNE1):c.26330C>G (p.Ser8777Cys)
|
rs377446250
|
0.00007
|
|
NM_182961.4(SYNE1):c.3500T>C (p.Val1167Ala)
|
rs555800735
|
0.00007
|
|
NM_182961.4(SYNE1):c.6254T>C (p.Ile2085Thr)
|
rs577979265
|
0.00007
|
|
NM_182961.4(SYNE1):c.8812T>C (p.Phe2938Leu)
|
rs919427159
|
0.00007
|
|
NM_182961.4(SYNE1):c.952G>A (p.Val318Ile)
|
rs373619878
|
0.00007
|
|
NM_000018.4(ACADVL):c.583A>G (p.Lys195Glu)
|
rs199763196
|
0.00006
|
|
NM_000018.4(ACADVL):c.686G>A (p.Arg229Gln)
|
rs777955007
|
0.00006
|
|
NM_000023.4(SGCA):c.1063C>T (p.Arg355Trp)
|
rs766855169
|
0.00006
|
|
NM_000023.4(SGCA):c.349C>T (p.Arg117Trp)
|
rs200075504
|
0.00006
|
|
NM_000116.5(TAFAZZIN):c.751C>T (p.Arg251Trp)
|
rs372689133
|
0.00006
|
|
NM_000152.5(GAA):c.1188C>G (p.Phe396Leu)
|
rs756126944
|
0.00006
|
|
NM_000152.5(GAA):c.1819G>A (p.Gly607Ser)
|
rs940955642
|
0.00006
|
|
NM_000152.5(GAA):c.197G>A (p.Arg66Gln)
|
rs200202628
|
0.00006
|
|
NM_000152.5(GAA):c.359C>G (p.Ala120Gly)
|
rs779208773
|
0.00006
|
|
NM_000152.5(GAA):c.420C>A (p.Asn140Lys)
|
rs560661191
|
0.00006
|
|
NM_000152.5(GAA):c.43G>A (p.Val15Ile)
|
rs772157487
|
0.00006
|
|
NM_000152.5(GAA):c.55G>A (p.Val19Met)
|
rs200343198
|
0.00006
|
|
NM_000152.5(GAA):c.862G>A (p.Gly288Ser)
|
rs200125735
|
0.00006
|
|
NM_000182.5(HADHA):c.975+6C>T
|
rs766717752
|
0.00006
|
|
NM_000231.3(SGCG):c.302C>T (p.Ser101Leu)
|
rs886042370
|
0.00006
|
|
NM_000231.3(SGCG):c.436G>A (p.Asp146Asn)
|
rs373442790
|
0.00006
|
|
NM_000232.5(SGCB):c.29A>G (p.Glu10Gly)
|
rs1452778513
|
0.00006
|
|
NM_000256.3(MYBPC3):c.1255C>T (p.Arg419Cys)
|
rs368770848
|
0.00006
|
|
NM_000256.3(MYBPC3):c.1309G>A (p.Val437Met)
|
rs730880535
|
0.00006
|
|
NM_000256.3(MYBPC3):c.1553T>C (p.Met518Thr)
|
rs886048378
|
0.00006
|
|
NM_000256.3(MYBPC3):c.2197C>T (p.Arg733Cys)
|
rs397515956
|
0.00006
|
|
NM_000256.3(MYBPC3):c.604A>C (p.Lys202Gln)
|
rs730880623
|
0.00006
|
|
NM_000256.3(MYBPC3):c.752A>T (p.Asn251Ile)
|
rs368588523
|
0.00006
|
|
NM_000257.4(MYH7):c.1060G>A (p.Gly354Ser)
|
rs727503270
|
0.00006
|
|
NM_000257.4(MYH7):c.115G>A (p.Val39Met)
|
rs376160714
|
0.00006
|
|
NM_000257.4(MYH7):c.2922G>A (p.Lys974=)
|
rs147727900
|
0.00006
|
|
NM_000257.4(MYH7):c.3116A>G (p.Glu1039Gly)
|
rs199573700
|
0.00006
|
|
NM_000257.4(MYH7):c.3814G>A (p.Asp1272Asn)
|
rs730880906
|
0.00006
|
|
NM_000257.4(MYH7):c.4210G>A (p.Val1404Met)
|
rs371552806
|
0.00006
|
|
NM_000257.4(MYH7):c.4283T>C (p.Leu1428Ser)
|
rs727503244
|
0.00006
|
|
NM_000257.4(MYH7):c.4353+5G>A
|
rs200436876
|
0.00006
|
|
NM_000257.4(MYH7):c.4363G>A (p.Glu1455Lys)
|
rs876661373
|
0.00006
|
|
NM_000257.4(MYH7):c.4709C>A (p.Ala1570Glu)
|
rs730880807
|
0.00006
|
|
NM_000257.4(MYH7):c.5326A>G (p.Ser1776Gly)
|
rs369437262
|
0.00006
|
|
NM_000257.4(MYH7):c.5779A>T (p.Ile1927Phe)
|
rs767300277
|
0.00006
|
|
NM_000257.4(MYH7):c.968T>C (p.Ile323Thr)
|
rs397516275
|
0.00006
|
|
NM_000337.6(SGCD):c.659C>T (p.Thr220Ile)
|
rs1471128348
|
0.00006
|
|
NM_000363.5(TNNI3):c.356C>A (p.Thr119Asn)
|
rs184709702
|
0.00006
|
|
NM_000371.4(TTR):c.355G>A (p.Asp119Asn)
|
rs76410435
|
0.00006
|
|
NM_000432.4(MYL2):c.418G>A (p.Ala140Thr)
|
rs1467265277
|
0.00006
|
|
NM_001005242.3(PKP2):c.1190T>A (p.Ile397Asn)
|
rs772334698
|
0.00006
|
|
NM_001005242.3(PKP2):c.1444A>G (p.Thr482Ala)
|
rs397516999
|
0.00006
|
|
NM_001005242.3(PKP2):c.2171A>C (p.Lys724Thr)
|
rs201487421
|
0.00006
|
|
NM_001005242.3(PKP2):c.2332A>G (p.Ile778Val)
|
rs145324631
|
0.00006
|
|
NM_001005242.3(PKP2):c.985A>C (p.Ser329Arg)
|
rs779173447
|
0.00006
|
|
NM_001035.3(RYR2):c.10725+4A>T
|
rs116444428
|
0.00006
|
|
NM_001035.3(RYR2):c.10838+4G>A
|
rs776923037
|
0.00006
|
|
NM_001035.3(RYR2):c.11974A>C (p.Asn3992His)
|
rs781352451
|
0.00006
|
|
NM_001035.3(RYR2):c.2717C>T (p.Pro906Leu)
|
rs397516522
|
0.00006
|
|
NM_001035.3(RYR2):c.3164G>A (p.Arg1055His)
|
rs757490010
|
0.00006
|
|
NM_001035.3(RYR2):c.3266G>A (p.Arg1089His)
|
rs552564367
|
0.00006
|
|
NM_001035.3(RYR2):c.4596+4C>T
|
rs397516532
|
0.00006
|
|
NM_001035.3(RYR2):c.6320C>T (p.Thr2107Met)
|
rs370331492
|
0.00006
|
|
NM_001035.3(RYR2):c.6440+6T>C
|
rs775678664
|
0.00006
|
|
NM_001035.3(RYR2):c.7697G>A (p.Arg2566Gln)
|
rs532016557
|
0.00006
|
|
NM_001035.3(RYR2):c.76G>A (p.Ala26Thr)
|
rs368974917
|
0.00006
|
|
NM_001035.3(RYR2):c.7815G>A (p.Met2605Ile)
|
rs1244019330
|
0.00006
|
|
NM_001035.3(RYR2):c.8437-3T>C
|
rs924080705
|
0.00006
|
|
NM_001035.3(RYR2):c.9569G>A (p.Arg3190Gln)
|
rs369276868
|
0.00006
|
|
NM_001103.4(ACTN2):c.2323C>T (p.His775Tyr)
|
rs370677725
|
0.00006
|
|
NM_001105206.3(LAMA4):c.1166A>G (p.His389Arg)
|
rs782618362
|
0.00006
|
|
NM_001105206.3(LAMA4):c.1420G>A (p.Val474Ile)
|
rs375981026
|
0.00006
|
|
NM_001105206.3(LAMA4):c.1613C>T (p.Ala538Val)
|
rs782569832
|
0.00006
|
|
NM_001105206.3(LAMA4):c.1634G>A (p.Arg545His)
|
rs143937452
|
0.00006
|
|
NM_001105206.3(LAMA4):c.167C>T (p.Ala56Val)
|
rs372763422
|
0.00006
|
|
NM_001105206.3(LAMA4):c.1960-3T>C
|
rs373682270
|
0.00006
|
|
NM_001105206.3(LAMA4):c.2569G>A (p.Ala857Thr)
|
rs144123257
|
0.00006
|
|
NM_001105206.3(LAMA4):c.3834G>A (p.Gly1278=)
|
rs141988342
|
0.00006
|
|
NM_001105206.3(LAMA4):c.4168C>T (p.Arg1390Trp)
|
rs200189282
|
0.00006
|
|
NM_001105206.3(LAMA4):c.4583G>T (p.Arg1528Leu)
|
rs782805733
|
0.00006
|
|
NM_001105206.3(LAMA4):c.4679G>A (p.Arg1560Gln)
|
rs397516732
|
0.00006
|
|
NM_001105206.3(LAMA4):c.5393T>C (p.Ile1798Thr)
|
rs377204776
|
0.00006
|
|
NM_001105206.3(LAMA4):c.5437G>A (p.Gly1813Ser)
|
rs142048329
|
0.00006
|
|
NM_001105206.3(LAMA4):c.547A>G (p.Thr183Ala)
|
rs782667094
|
0.00006
|
|
NM_001105206.3(LAMA4):c.631A>C (p.Asn211His)
|
rs371848733
|
0.00006
|
|
NM_001105206.3(LAMA4):c.829G>A (p.Val277Ile)
|
rs146225813
|
0.00006
|
|
NM_001105206.3(LAMA4):c.928C>G (p.His310Asp)
|
rs374968791
|
0.00006
|
|
NM_001122630.2(CDKN1C):c.458C>T (p.Pro153Leu)
|
rs1315960524
|
0.00006
|
|
NM_001130965.3(SUN1):c.1301G>A (p.Arg434His)
|
rs776823974
|
0.00006
|
|
NM_001130965.3(SUN1):c.1768A>T (p.Ile590Leu)
|
rs374725863
|
0.00006
|
|
NM_001130965.3(SUN1):c.23T>C (p.Met8Thr)
|
rs373925818
|
0.00006
|
|
NM_001130965.3(SUN1):c.281G>A (p.Arg94His)
|
rs112598200
|
0.00006
|
|
NM_001130965.3(SUN1):c.29G>A (p.Ser10Asn)
|
rs200505697
|
0.00006
|
|
NM_001130965.3(SUN1):c.622G>A (p.Val208Met)
|
rs539058781
|
0.00006
|
|
NM_001130965.3(SUN1):c.900C>G (p.Phe300Leu)
|
rs377260468
|
0.00006
|
|
NM_001130965.3(SUN1):c.958G>A (p.Val320Met)
|
rs555876242
|
0.00006
|
|
NM_001134363.3(RBM20):c.3478G>A (p.Gly1160Ser)
|
rs374611807
|
0.00006
|
|
NM_001159699.2(FHL1):c.400A>G (p.Lys134Glu)
|
rs781053469
|
0.00006
|
|
NM_001161403.3(LIMS2):c.145C>A (p.Pro49Thr)
|
rs202166665
|
0.00006
|
|
NM_001161403.3(LIMS2):c.256C>T (p.Arg86Cys)
|
rs757640443
|
0.00006
|
|
NM_001232.4(CASQ2):c.1121A>G (p.Asp374Gly)
|
rs886045158
|
0.00006
|
|
NM_001232.4(CASQ2):c.1148A>G (p.Asp383Gly)
|
rs397516640
|
0.00006
|
|
NM_001267550.2(TTN):c.101218G>A (p.Gly33740Arg)
|
rs536705240
|
0.00006
|
|
NM_001267550.2(TTN):c.102191C>T (p.Ala34064Val)
|
rs149921607
|
0.00006
|
|
NM_001267550.2(TTN):c.102398T>C (p.Ile34133Thr)
|
rs764179161
|
0.00006
|
|
NM_001267550.2(TTN):c.102736C>T (p.Arg34246Cys)
|
rs879047941
|
0.00006
|
|
NM_001267550.2(TTN):c.103636C>T (p.Arg34546Cys)
|
rs777626473
|
0.00006
|
|
NM_001267550.2(TTN):c.103772G>A (p.Arg34591Gln)
|
rs778021095
|
0.00006
|
|
NM_001267550.2(TTN):c.103909C>T (p.Arg34637Trp)
|
rs200716930
|
0.00006
|
|
NM_001267550.2(TTN):c.104000T>C (p.Ile34667Thr)
|
rs727504476
|
0.00006
|
|
NM_001267550.2(TTN):c.104125C>T (p.Arg34709Cys)
|
rs530959653
|
0.00006
|
|
NM_001267550.2(TTN):c.104222C>T (p.Thr34741Ile)
|
rs727505306
|
0.00006
|
|
NM_001267550.2(TTN):c.104261C>T (p.Ala34754Val)
|
rs727505020
|
0.00006
|
|
NM_001267550.2(TTN):c.10435G>A (p.Gly3479Arg)
|
rs746691102
|
0.00006
|
|
NM_001267550.2(TTN):c.104561T>G (p.Val34854Gly)
|
rs768717312
|
0.00006
|
|
NM_001267550.2(TTN):c.105413T>C (p.Met35138Thr)
|
rs771741670
|
0.00006
|
|
NM_001267550.2(TTN):c.105490C>T (p.Arg35164Cys)
|
rs200123047
|
0.00006
|
|
NM_001267550.2(TTN):c.106025A>G (p.Tyr35342Cys)
|
rs1060500560
|
0.00006
|
|
NM_001267550.2(TTN):c.106537A>G (p.Lys35513Glu)
|
rs551063889
|
0.00006
|
|
NM_001267550.2(TTN):c.106604T>C (p.Val35535Ala)
|
rs368179478
|
0.00006
|
|
NM_001267550.2(TTN):c.11667G>T (p.Glu3889Asp)
|
rs377423256
|
0.00006
|
|
NM_001267550.2(TTN):c.12801A>T (p.Leu4267Phe)
|
rs750553032
|
0.00006
|
|
NM_001267550.2(TTN):c.12821G>A (p.Ser4274Asn)
|
rs200348414
|
0.00006
|
|
NM_001267550.2(TTN):c.14999G>A (p.Arg5000His)
|
rs377062348
|
0.00006
|
|
NM_001267550.2(TTN):c.17302G>A (p.Asp5768Asn)
|
rs576904726
|
0.00006
|
|
NM_001267550.2(TTN):c.17869C>G (p.Gln5957Glu)
|
rs201672969
|
0.00006
|
|
NM_001267550.2(TTN):c.17893T>C (p.Tyr5965His)
|
rs752226947
|
0.00006
|
|
NM_001267550.2(TTN):c.19697G>C (p.Gly6566Ala)
|
rs1052515116
|
0.00006
|
|
NM_001267550.2(TTN):c.19964A>G (p.Asp6655Gly)
|
rs772947420
|
0.00006
|
|
NM_001267550.2(TTN):c.2032A>G (p.Thr678Ala)
|
rs878854290
|
0.00006
|
|
NM_001267550.2(TTN):c.21653C>T (p.Ala7218Val)
|
rs763125654
|
0.00006
|
|
NM_001267550.2(TTN):c.2331C>G (p.Ile777Met)
|
rs1157627413
|
0.00006
|
|
NM_001267550.2(TTN):c.25231G>A (p.Val8411Ile)
|
rs760523669
|
0.00006
|
|
NM_001267550.2(TTN):c.26281G>A (p.Gly8761Ser)
|
rs369385294
|
0.00006
|
|
NM_001267550.2(TTN):c.26468C>T (p.Thr8823Met)
|
rs368151971
|
0.00006
|
|
NM_001267550.2(TTN):c.26506C>T (p.Pro8836Ser)
|
rs776799144
|
0.00006
|
|
NM_001267550.2(TTN):c.27709T>G (p.Ser9237Ala)
|
rs766638714
|
0.00006
|
|
NM_001267550.2(TTN):c.29944G>A (p.Ala9982Thr)
|
rs200745162
|
0.00006
|
|
NM_001267550.2(TTN):c.32161G>A (p.Ala10721Thr)
|
rs753365187
|
0.00006
|
|
NM_001267550.2(TTN):c.3295G>A (p.Val1099Met)
|
rs368282893
|
0.00006
|
|
NM_001267550.2(TTN):c.33742+1G>T
|
rs772114165
|
0.00006
|
|
NM_001267550.2(TTN):c.35082C>T (p.Gly11694=)
|
rs377761863
|
0.00006
|
|
NM_001267550.2(TTN):c.35890C>T (p.Arg11964Ter)
|
rs1266298136
|
0.00006
|
|
NM_001267550.2(TTN):c.36865C>A (p.Arg12289Ser)
|
rs1480219250
|
0.00006
|
|
NM_001267550.2(TTN):c.37099C>G (p.Pro12367Ala)
|
rs973940125
|
0.00006
|
|
NM_001267550.2(TTN):c.38161G>T (p.Val12721Leu)
|
rs794729416
|
0.00006
|
|
NM_001267550.2(TTN):c.39067G>T (p.Val13023Phe)
|
rs774402932
|
0.00006
|
|
NM_001267550.2(TTN):c.39389C>T (p.Pro13130Leu)
|
rs370520319
|
0.00006
|
|
NM_001267550.2(TTN):c.42509T>C (p.Met14170Thr)
|
rs369623392
|
0.00006
|
|
NM_001267550.2(TTN):c.43501A>G (p.Thr14501Ala)
|
rs764500643
|
0.00006
|
|
NM_001267550.2(TTN):c.43970G>C (p.Cys14657Ser)
|
rs774245300
|
0.00006
|
|
NM_001267550.2(TTN):c.43986T>G (p.Asp14662Glu)
|
rs201390600
|
0.00006
|
|
NM_001267550.2(TTN):c.44273G>A (p.Arg14758Gln)
|
rs770389312
|
0.00006
|
|
NM_001267550.2(TTN):c.44492G>A (p.Gly14831Glu)
|
rs751929345
|
0.00006
|
|
NM_001267550.2(TTN):c.44848G>A (p.Asp14950Asn)
|
rs571524382
|
0.00006
|
|
NM_001267550.2(TTN):c.44978G>A (p.Gly14993Glu)
|
rs200931793
|
0.00006
|
|
NM_001267550.2(TTN):c.47866G>A (p.Asp15956Asn)
|
rs372881122
|
0.00006
|
|
NM_001267550.2(TTN):c.48296G>A (p.Arg16099Gln)
|
rs376747673
|
0.00006
|
|
NM_001267550.2(TTN):c.48589C>T (p.Arg16197Cys)
|
rs748917057
|
0.00006
|
|
NM_001267550.2(TTN):c.48751G>A (p.Asp16251Asn)
|
rs199954570
|
0.00006
|
|
NM_001267550.2(TTN):c.48838G>A (p.Ala16280Thr)
|
rs372911542
|
0.00006
|
|
NM_001267550.2(TTN):c.49560A>T (p.Lys16520Asn)
|
rs779658426
|
0.00006
|
|
NM_001267550.2(TTN):c.49801G>T (p.Val16601Leu)
|
rs773271774
|
0.00006
|
|
NM_001267550.2(TTN):c.49937G>A (p.Arg16646Gln)
|
rs746384579
|
0.00006
|
|
NM_001267550.2(TTN):c.52139A>T (p.Asp17380Val)
|
rs373305248
|
0.00006
|
|
NM_001267550.2(TTN):c.52199A>C (p.Glu17400Ala)
|
rs773027240
|
0.00006
|
|
NM_001267550.2(TTN):c.53744G>A (p.Arg17915Gln)
|
rs758896047
|
0.00006
|
|
NM_001267550.2(TTN):c.53899T>A (p.Leu17967Met)
|
rs761733751
|
0.00006
|
|
NM_001267550.2(TTN):c.54518C>A (p.Pro18173Gln)
|
rs794729458
|
0.00006
|
|
NM_001267550.2(TTN):c.55139T>C (p.Ile18380Thr)
|
rs72646819
|
0.00006
|
|
NM_001267550.2(TTN):c.55784C>G (p.Thr18595Arg)
|
rs770499179
|
0.00006
|
|
NM_001267550.2(TTN):c.56315C>T (p.Thr18772Ile)
|
rs370118111
|
0.00006
|
|
NM_001267550.2(TTN):c.56911G>A (p.Val18971Met)
|
rs373153121
|
0.00006
|
|
NM_001267550.2(TTN):c.570A>T (p.Glu190Asp)
|
rs753196873
|
0.00006
|
|
NM_001267550.2(TTN):c.57382A>G (p.Met19128Val)
|
rs138367112
|
0.00006
|
|
NM_001267550.2(TTN):c.57586C>G (p.Leu19196Val)
|
rs397517630
|
0.00006
|
|
NM_001267550.2(TTN):c.59173G>A (p.Glu19725Lys)
|
rs767601396
|
0.00006
|
|
NM_001267550.2(TTN):c.59474G>C (p.Arg19825Thr)
|
rs376465623
|
0.00006
|
|
NM_001267550.2(TTN):c.59707G>C (p.Asp19903His)
|
rs374163882
|
0.00006
|
|
NM_001267550.2(TTN):c.60002C>T (p.Pro20001Leu)
|
rs727505345
|
0.00006
|
|
NM_001267550.2(TTN):c.61099C>T (p.Arg20367Trp)
|
rs727504479
|
0.00006
|
|
NM_001267550.2(TTN):c.61592G>A (p.Arg20531His)
|
rs370887455
|
0.00006
|
|
NM_001267550.2(TTN):c.61696G>A (p.Val20566Ile)
|
rs764777213
|
0.00006
|
|
NM_001267550.2(TTN):c.63877G>A (p.Asp21293Asn)
|
rs199505416
|
0.00006
|
|
NM_001267550.2(TTN):c.64175G>A (p.Arg21392His)
|
rs777176324
|
0.00006
|
|
NM_001267550.2(TTN):c.6420T>A (p.Asp2140Glu)
|
rs777009984
|
0.00006
|
|
NM_001267550.2(TTN):c.65093G>T (p.Arg21698Leu)
|
rs371581072
|
0.00006
|
|
NM_001267550.2(TTN):c.65915G>A (p.Arg21972His)
|
rs200217934
|
0.00006
|
|
NM_001267550.2(TTN):c.66105A>T (p.Lys22035Asn)
|
rs373681189
|
0.00006
|
|
NM_001267550.2(TTN):c.6713C>T (p.Thr2238Met)
|
rs201284459
|
0.00006
|
|
NM_001267550.2(TTN):c.68341G>A (p.Glu22781Lys)
|
rs760286642
|
0.00006
|
|
NM_001267550.2(TTN):c.68981C>T (p.Thr22994Ile)
|
rs183056142
|
0.00006
|
|
NM_001267550.2(TTN):c.69103G>A (p.Val23035Ile)
|
rs200878877
|
0.00006
|
|
NM_001267550.2(TTN):c.69251G>A (p.Arg23084Gln)
|
rs200191748
|
0.00006
|
|
NM_001267550.2(TTN):c.6950G>A (p.Arg2317His)
|
rs764882950
|
0.00006
|
|
NM_001267550.2(TTN):c.70645G>A (p.Val23549Ile)
|
rs755669336
|
0.00006
|
|
NM_001267550.2(TTN):c.70975G>A (p.Gly23659Ser)
|
rs376256345
|
0.00006
|
|
NM_001267550.2(TTN):c.71149G>T (p.Asp23717Tyr)
|
rs371818894
|
0.00006
|
|
NM_001267550.2(TTN):c.73636G>C (p.Asp24546His)
|
rs1051495269
|
0.00006
|
|
NM_001267550.2(TTN):c.73847G>A (p.Arg24616Gln)
|
rs201694149
|
0.00006
|
|
NM_001267550.2(TTN):c.74504A>G (p.Tyr24835Cys)
|
rs201724962
|
0.00006
|
|
NM_001267550.2(TTN):c.76566_76568dup (p.Arg25523dup)
|
rs772268958
|
0.00006
|
|
NM_001267550.2(TTN):c.76967A>G (p.His25656Arg)
|
rs755172663
|
0.00006
|
|
NM_001267550.2(TTN):c.77654T>C (p.Ile25885Thr)
|
rs199514898
|
0.00006
|
|
NM_001267550.2(TTN):c.77749T>C (p.Tyr25917His)
|
rs370137092
|
0.00006
|
|
NM_001267550.2(TTN):c.80462C>T (p.Pro26821Leu)
|
rs200489046
|
0.00006
|
|
NM_001267550.2(TTN):c.82084A>G (p.Ile27362Val)
|
rs886039181
|
0.00006
|
|
NM_001267550.2(TTN):c.85115G>A (p.Gly28372Glu)
|
rs190721759
|
0.00006
|
|
NM_001267550.2(TTN):c.85316G>A (p.Arg28439Gln)
|
rs764437671
|
0.00006
|
|
NM_001267550.2(TTN):c.85462G>A (p.Val28488Ile)
|
rs377264123
|
0.00006
|
|
NM_001267550.2(TTN):c.85976A>C (p.Lys28659Thr)
|
rs200724395
|
0.00006
|
|
NM_001267550.2(TTN):c.86903A>G (p.His28968Arg)
|
rs754679595
|
0.00006
|
|
NM_001267550.2(TTN):c.87758G>A (p.Ser29253Asn)
|
rs757300589
|
0.00006
|
|
NM_001267550.2(TTN):c.919G>A (p.Val307Met)
|
rs371056974
|
0.00006
|
|
NM_001267550.2(TTN):c.92151T>C (p.Tyr30717=)
|
rs182422055
|
0.00006
|
|
NM_001267550.2(TTN):c.92590G>A (p.Asp30864Asn)
|
rs200621611
|
0.00006
|
|
NM_001267550.2(TTN):c.93131G>T (p.Gly31044Val)
|
rs570464905
|
0.00006
|
|
NM_001267550.2(TTN):c.93179G>A (p.Arg31060His)
|
rs776018262
|
0.00006
|
|
NM_001267550.2(TTN):c.93323T>C (p.Ile31108Thr)
|
rs373732722
|
0.00006
|
|
NM_001267550.2(TTN):c.94774G>A (p.Val31592Ile)
|
rs370918800
|
0.00006
|
|
NM_001267550.2(TTN):c.9512A>G (p.Asn3171Ser)
|
rs139992576
|
0.00006
|
|
NM_001267550.2(TTN):c.95305G>A (p.Val31769Ile)
|
rs374445709
|
0.00006
|
|
NM_001267550.2(TTN):c.96230G>A (p.Arg32077Gln)
|
rs369835255
|
0.00006
|
|
NM_001267550.2(TTN):c.96424G>A (p.Val32142Ile)
|
rs779663332
|
0.00006
|
|
NM_001267550.2(TTN):c.96637G>A (p.Asp32213Asn)
|
rs764561909
|
0.00006
|
|
NM_001267550.2(TTN):c.9674A>G (p.Asn3225Ser)
|
rs202011992
|
0.00006
|
|
NM_001267550.2(TTN):c.97537C>T (p.Arg32513Cys)
|
rs1279110183
|
0.00006
|
|
NM_001267550.2(TTN):c.97678C>T (p.Arg32560Cys)
|
rs760762257
|
0.00006
|
|
NM_001267550.2(TTN):c.97949G>A (p.Cys32650Tyr)
|
rs535612231
|
0.00006
|
|
NM_001267550.2(TTN):c.99178A>C (p.Ile33060Leu)
|
rs142108986
|
0.00006
|
|
NM_001289808.2(CRYAB):c.37C>A (p.Pro13Thr)
|
rs1349139935
|
0.00006
|
|
NM_001347702.2(SYNE1):c.1480C>T (p.Leu494Phe)
|
rs200854314
|
0.00006
|
|
NM_001386795.1(DTNA):c.1183C>T (p.Pro395Ser)
|
rs768198248
|
0.00006
|
|
NM_001386795.1(DTNA):c.1219G>T (p.Ala407Ser)
|
rs760958673
|
0.00006
|
|
NM_001386795.1(DTNA):c.1915A>G (p.Asn639Asp)
|
rs779045040
|
0.00006
|
|
NM_001386795.1(DTNA):c.239G>A (p.Arg80His)
|
rs774912781
|
0.00006
|
|
NM_001458.5(FLNC):c.1589A>T (p.Asp530Val)
|
rs1371853934
|
0.00006
|
|
NM_001458.5(FLNC):c.3458T>G (p.Phe1153Cys)
|
rs138663492
|
0.00006
|
|
NM_001458.5(FLNC):c.5071G>A (p.Asp1691Asn)
|
rs777061037
|
0.00006
|
|
NM_001458.5(FLNC):c.6005G>T (p.Gly2002Val)
|
rs747796553
|
0.00006
|
|
NM_001927.4(DES):c.299A>C (p.Glu100Ala)
|
rs762738069
|
0.00006
|
|
NM_001943.5(DSG2):c.1643G>A (p.Arg548His)
|
rs551034751
|
0.00006
|
|
NM_001943.5(DSG2):c.1949C>T (p.Thr650Ile)
|
rs373512167
|
0.00006
|
|
NM_001943.5(DSG2):c.2033G>C (p.Gly678Ala)
|
rs372494397
|
0.00006
|
|
NM_001943.5(DSG2):c.513G>T (p.Leu171Phe)
|
rs199926617
|
0.00006
|
|
NM_001943.5(DSG2):c.98A>G (p.Asn33Ser)
|
rs727505205
|
0.00006
|
|
NM_001985.3(ETFB):c.118C>A (p.Pro40Thr)
|
rs772322071
|
0.00006
|
|
NM_001985.3(ETFB):c.184A>G (p.Ile62Val)
|
rs199705168
|
0.00006
|
|
NM_001985.3(ETFB):c.706G>A (p.Gly236Ser)
|
rs375326450
|
0.00006
|
|
NM_002230.4(JUP):c.109G>A (p.Val37Ile)
|
rs150769772
|
0.00006
|
|
NM_002230.4(JUP):c.1909C>T (p.Arg637Cys)
|
rs531732438
|
0.00006
|
|
NM_002230.4(JUP):c.1912A>C (p.Asn638His)
|
rs782658008
|
0.00006
|
|
NM_002230.4(JUP):c.2167_2172del (p.Asp723_Tyr724del)
|
rs782439900
|
0.00006
|
|
NM_002230.4(JUP):c.530G>A (p.Arg177Gln)
|
rs371481933
|
0.00006
|
|
NM_002230.4(JUP):c.568G>A (p.Val190Met)
|
rs370143312
|
0.00006
|
|
NM_002230.4(JUP):c.778G>A (p.Ala260Thr)
|
rs149623442
|
0.00006
|
|
NM_002471.4(MYH6):c.100C>T (p.Arg34Cys)
|
rs765792077
|
0.00006
|
|
NM_002471.4(MYH6):c.1171C>A (p.Leu391Met)
|
rs869025472
|
0.00006
|
|
NM_002471.4(MYH6):c.1328G>A (p.Arg443His)
|
rs202096001
|
0.00006
|
|
NM_002471.4(MYH6):c.1628A>G (p.Lys543Arg)
|
rs367663906
|
0.00006
|
|
NM_002471.4(MYH6):c.1702C>T (p.Arg568Cys)
|
rs149650190
|
0.00006
|
|
NM_002471.4(MYH6):c.2113C>T (p.Arg705Cys)
|
rs767124357
|
0.00006
|
|
NM_002471.4(MYH6):c.2258T>C (p.Ile753Thr)
|
rs369729808
|
0.00006
|
|
NM_002471.4(MYH6):c.226G>A (p.Val76Met)
|
rs977234074
|
0.00006
|
|
NM_002471.4(MYH6):c.2306C>T (p.Ala769Val)
|
rs139182991
|
0.00006
|
|
NM_002471.4(MYH6):c.2600A>G (p.Lys867Arg)
|
rs143284278
|
0.00006
|
|
NM_002471.4(MYH6):c.2716C>T (p.Arg906Cys)
|
rs143928061
|
0.00006
|
|
NM_002471.4(MYH6):c.2738A>G (p.Asn913Ser)
|
rs138213182
|
0.00006
|
|
NM_002471.4(MYH6):c.2842G>A (p.Glu948Lys)
|
rs538791600
|
0.00006
|
|
NM_002471.4(MYH6):c.3073T>A (p.Ser1025Thr)
|
rs371209775
|
0.00006
|
|
NM_002471.4(MYH6):c.3427C>T (p.Arg1143Trp)
|
rs755209382
|
0.00006
|
|
NM_002471.4(MYH6):c.3619G>A (p.Glu1207Lys)
|
rs397516762
|
0.00006
|
|
NM_002471.4(MYH6):c.3787G>A (p.Val1263Met)
|
rs375819633
|
0.00006
|
|
NM_002471.4(MYH6):c.3923T>G (p.Leu1308Arg)
|
rs776486154
|
0.00006
|
|
NM_002471.4(MYH6):c.4216G>A (p.Val1406Met)
|
rs201566738
|
0.00006
|
|
NM_002471.4(MYH6):c.4573G>A (p.Val1525Met)
|
rs900579440
|
0.00006
|
|
NM_002471.4(MYH6):c.4723G>A (p.Glu1575Lys)
|
rs371067114
|
0.00006
|
|
NM_002471.4(MYH6):c.4747G>A (p.Glu1583Lys)
|
rs397516771
|
0.00006
|
|
NM_002471.4(MYH6):c.4991G>A (p.Arg1664His)
|
rs778287981
|
0.00006
|
|
NM_002471.4(MYH6):c.5095C>T (p.Arg1699Trp)
|
rs766345714
|
0.00006
|
|
NM_002471.4(MYH6):c.5102G>A (p.Arg1701Gln)
|
rs762103586
|
0.00006
|
|
NM_002471.4(MYH6):c.5257G>C (p.Ala1753Pro)
|
rs142437308
|
0.00006
|
|
NM_002471.4(MYH6):c.5458C>T (p.Arg1820Trp)
|
rs111473291
|
0.00006
|
|
NM_002471.4(MYH6):c.5491G>A (p.Glu1831Lys)
|
rs367834703
|
0.00006
|
|
NM_002471.4(MYH6):c.5656G>A (p.Glu1886Lys)
|
rs138864419
|
0.00006
|
|
NM_002633.3(PGM1):c.975G>T (p.Gln325His)
|
rs574355735
|
0.00006
|
|
NM_003476.5(CSRP3):c.148G>A (p.Ala50Thr)
|
rs145300736
|
0.00006
|
|
NM_003673.4(TCAP):c.226C>T (p.Arg76Cys)
|
rs572836774
|
0.00006
|
|
NM_003673.4(TCAP):c.480G>A (p.Met160Ile)
|
rs755395354
|
0.00006
|
|
NM_003803.4(MYOM1):c.1358C>T (p.Ser453Leu)
|
rs368424215
|
0.00006
|
|
NM_003803.4(MYOM1):c.1612G>A (p.Gly538Arg)
|
rs374025340
|
0.00006
|
|
NM_003803.4(MYOM1):c.1732C>T (p.Arg578Cys)
|
rs757545696
|
0.00006
|
|
NM_003803.4(MYOM1):c.2132G>A (p.Arg711His)
|
rs548747720
|
0.00006
|
|
NM_003803.4(MYOM1):c.2138G>A (p.Arg713His)
|
rs183881662
|
0.00006
|
|
NM_003803.4(MYOM1):c.2317dup (p.Ile773fs)
|
rs762570567
|
0.00006
|
|
NM_003803.4(MYOM1):c.2329G>A (p.Val777Ile)
|
rs372147749
|
0.00006
|
|
NM_003803.4(MYOM1):c.2428C>T (p.Arg810Trp)
|
rs776727177
|
0.00006
|
|
NM_003803.4(MYOM1):c.2717A>C (p.Glu906Ala)
|
rs760763098
|
0.00006
|
|
NM_003803.4(MYOM1):c.3196G>A (p.Gly1066Arg)
|
rs756554639
|
0.00006
|
|
NM_003803.4(MYOM1):c.3419G>A (p.Gly1140Glu)
|
rs375843420
|
0.00006
|
|
NM_003803.4(MYOM1):c.4000G>A (p.Val1334Ile)
|
rs763659581
|
0.00006
|
|
NM_003803.4(MYOM1):c.4148T>C (p.Ile1383Thr)
|
rs374491316
|
0.00006
|
|
NM_003803.4(MYOM1):c.4181A>G (p.Asp1394Gly)
|
rs374142554
|
0.00006
|
|
NM_003803.4(MYOM1):c.431G>A (p.Arg144His)
|
rs183139046
|
0.00006
|
|
NM_003803.4(MYOM1):c.685G>A (p.Ala229Thr)
|
rs762212739
|
0.00006
|
|
NM_003803.4(MYOM1):c.808G>A (p.Glu270Lys)
|
rs777614479
|
0.00006
|
|
NM_003803.4(MYOM1):c.920G>C (p.Arg307Pro)
|
rs199520642
|
0.00006
|
|
NM_003803.4(MYOM1):c.955G>A (p.Val319Ile)
|
rs200578492
|
0.00006
|
|
NM_004100.5(EYA4):c.252T>A (p.Ser84Arg)
|
rs758076073
|
0.00006
|
|
NM_004100.5(EYA4):c.454C>G (p.Leu152Val)
|
rs753705589
|
0.00006
|
|
NM_004281.4(BAG3):c.785C>T (p.Ala262Val)
|
rs397516883
|
0.00006
|
|
NM_004453.4(ETFDH):c.1019T>A (p.Phe340Tyr)
|
rs1131691336
|
0.00006
|
|
NM_004453.4(ETFDH):c.1744A>C (p.Asn582His)
|
rs757842479
|
0.00006
|
|
NM_004517.4(ILK):c.1353C>G (p.Asp451Glu)
|
rs1234007742
|
0.00006
|
|
NM_005921.2(MAP3K1):c.3242T>A (p.Met1081Lys)
|
rs754640057
|
0.00006
|
|
NM_006073.4(TRDN):c.1105G>A (p.Ala369Thr)
|
rs369198088
|
0.00006
|
|
NM_006073.4(TRDN):c.2084A>T (p.Asp695Val)
|
rs202040879
|
0.00006
|
|
NM_006073.4(TRDN):c.550G>T (p.Ala184Ser)
|
rs576028226
|
0.00006
|
|
NM_006073.4(TRDN):c.797A>G (p.Gln266Arg)
|
rs200068375
|
0.00006
|
|
NM_006270.5(RRAS):c.163G>A (p.Val55Met)
|
rs368625677
|
0.00006
|
|
NM_006270.5(RRAS):c.409G>A (p.Val137Ile)
|
rs757080959
|
0.00006
|
|
NM_006393.3(NEBL):c.1225G>A (p.Glu409Lys)
|
rs767565380
|
0.00006
|
|
NM_006393.3(NEBL):c.1258A>G (p.Ile420Val)
|
rs761905318
|
0.00006
|
|
NM_006393.3(NEBL):c.1715C>T (p.Ser572Phe)
|
rs778833975
|
0.00006
|
|
NM_006393.3(NEBL):c.1721T>C (p.Ile574Thr)
|
rs754884291
|
0.00006
|
|
NM_006393.3(NEBL):c.2398G>A (p.Val800Ile)
|
rs367986765
|
0.00006
|
|
NM_006393.3(NEBL):c.326T>C (p.Ile109Thr)
|
rs371620771
|
0.00006
|
|
NM_006393.3(NEBL):c.430G>C (p.Glu144Gln)
|
rs147430943
|
0.00006
|
|
NM_006393.3(NEBL):c.56G>A (p.Gly19Glu)
|
rs727503338
|
0.00006
|
|
NM_006393.3(NEBL):c.740A>G (p.Asn247Ser)
|
rs147901148
|
0.00006
|
|
NM_006440.5(TXNRD2):c.1091G>A (p.Arg364Gln)
|
rs199734322
|
0.00006
|
|
NM_006440.5(TXNRD2):c.1126A>G (p.Arg376Gly)
|
rs371547623
|
0.00006
|
|
NM_006440.5(TXNRD2):c.1157C>A (p.Ser386Tyr)
|
rs377598025
|
0.00006
|
|
NM_006440.5(TXNRD2):c.1559C>G (p.Thr520Arg)
|
rs774708598
|
0.00006
|
|
NM_006440.5(TXNRD2):c.820C>T (p.Arg274Trp)
|
rs571571452
|
0.00006
|
|
NM_006939.4(SOS2):c.3868C>G (p.Pro1290Ala)
|
rs761580972
|
0.00006
|
|
NM_012082.4(ZFPM2):c.2593A>G (p.Lys865Glu)
|
rs367893066
|
0.00006
|
|
NM_012082.4(ZFPM2):c.617T>C (p.Leu206Pro)
|
rs368572530
|
0.00006
|
|
NM_013266.4(CTNNA3):c.1120C>T (p.Arg374Cys)
|
rs370981751
|
0.00006
|
|
NM_013266.4(CTNNA3):c.1651G>A (p.Val551Ile)
|
rs750835711
|
0.00006
|
|
NM_013266.4(CTNNA3):c.796C>T (p.Pro266Ser)
|
rs199985402
|
0.00006
|
|
NM_014000.3(VCL):c.1195A>C (p.Asn399His)
|
rs377228795
|
0.00006
|
|
NM_014000.3(VCL):c.1743+6A>T
|
rs370709860
|
0.00006
|
|
NM_014000.3(VCL):c.2467C>T (p.Arg823Trp)
|
rs779047174
|
0.00006
|
|
NM_014000.3(VCL):c.2468G>A (p.Arg823Gln)
|
rs759202535
|
0.00006
|
|
NM_014000.3(VCL):c.2531C>T (p.Pro844Leu)
|
rs145393322
|
0.00006
|
|
NM_014000.3(VCL):c.2649A>C (p.Glu883Asp)
|
rs752902180
|
0.00006
|
|
NM_014000.3(VCL):c.592G>A (p.Val198Met)
|
rs760340545
|
0.00006
|
|
NM_014476.6(PDLIM3):c.677C>T (p.Ser226Leu)
|
rs747243505
|
0.00006
|
|
NM_014476.6(PDLIM3):c.928G>A (p.Asp310Asn)
|
rs146092339
|
0.00006
|
|
NM_014908.4(DOLK):c.1139G>A (p.Arg380His)
|
rs553112177
|
0.00006
|
|
NM_014908.4(DOLK):c.165C>A (p.Tyr55Ter)
|
rs1366267146
|
0.00006
|
|
NM_014908.4(DOLK):c.323A>G (p.Glu108Gly)
|
rs779008975
|
0.00006
|
|
NM_014908.4(DOLK):c.344C>T (p.Ala115Val)
|
rs146804211
|
0.00006
|
|
NM_014908.4(DOLK):c.914C>G (p.Ser305Cys)
|
rs766759178
|
0.00006
|
|
NM_015374.3(SUN2):c.1205C>T (p.Ser402Phe)
|
rs189897179
|
0.00006
|
|
NM_015374.3(SUN2):c.1684C>T (p.Arg562Ter)
|
rs1370359939
|
0.00006
|
|
NM_015374.3(SUN2):c.1859G>A (p.Arg620His)
|
rs566312173
|
0.00006
|
|
NM_015374.3(SUN2):c.472G>A (p.Ala158Thr)
|
rs199600089
|
0.00006
|
|
NM_015374.3(SUN2):c.616C>A (p.Arg206Ser)
|
rs150381950
|
0.00006
|
|
NM_016203.4(PRKAG2):c.182G>A (p.Arg61Gln)
|
rs564358410
|
0.00006
|
|
NM_016599.5(MYOZ2):c.745A>G (p.Thr249Ala)
|
rs762234986
|
0.00006
|
|
NM_020297.4(ABCC9):c.1979G>A (p.Arg660Gln)
|
rs150255709
|
0.00006
|
|
NM_020297.4(ABCC9):c.2348C>T (p.Ala783Val)
|
rs1195562877
|
0.00006
|
|
NM_020297.4(ABCC9):c.3070A>G (p.Ile1024Val)
|
rs376701259
|
0.00006
|
|
NM_020297.4(ABCC9):c.3668C>T (p.Thr1223Met)
|
rs137907278
|
0.00006
|
|
NM_020297.4(ABCC9):c.4512+711G>A
|
rs72559751
|
0.00006
|
|
NM_020433.5(JPH2):c.1433C>T (p.Pro478Leu)
|
rs970525996
|
0.00006
|
|
NM_020433.5(JPH2):c.1486C>T (p.Arg496Trp)
|
rs863224775
|
0.00006
|
|
NM_020433.5(JPH2):c.349G>A (p.Gly117Ser)
|
rs1414551155
|
0.00006
|
|
NM_021167.5(GATAD1):c.770C>T (p.Pro257Leu)
|
rs145306938
|
0.00006
|
|
NM_022114.4(PRDM16):c.1832C>T (p.Thr611Met)
|
rs200936355
|
0.00006
|
|
NM_022114.4(PRDM16):c.2062G>A (p.Ala688Thr)
|
rs367580261
|
0.00006
|
|
NM_022114.4(PRDM16):c.2691+4C>T
|
rs374015321
|
0.00006
|
|
NM_022114.4(PRDM16):c.2747C>T (p.Ala916Val)
|
rs756209340
|
0.00006
|
|
NM_022114.4(PRDM16):c.3199G>A (p.Glu1067Lys)
|
rs200946004
|
0.00006
|
|
NM_022114.4(PRDM16):c.3269C>T (p.Thr1090Met)
|
rs760088040
|
0.00006
|
|
NM_022114.4(PRDM16):c.3352G>A (p.Val1118Met)
|
rs542279737
|
0.00006
|
|
NM_022114.4(PRDM16):c.398C>T (p.Thr133Met)
|
rs530119550
|
0.00006
|
|
NM_022114.4(PRDM16):c.700G>A (p.Glu234Lys)
|
rs367748143
|
0.00006
|
|
NM_022114.4(PRDM16):c.76C>T (p.Arg26Trp)
|
rs769704263
|
0.00006
|
|
NM_022114.4(PRDM16):c.778C>G (p.Leu260Val)
|
rs762328436
|
0.00006
|
|
NM_022114.4(PRDM16):c.863G>A (p.Arg288Gln)
|
rs141374404
|
0.00006
|
|
NM_022455.5(NSD1):c.7414C>T (p.Pro2472Ser)
|
rs143159061
|
0.00006
|
|
NM_024334.3(TMEM43):c.214G>A (p.Val72Met)
|
rs368603914
|
0.00006
|
|
NM_024334.3(TMEM43):c.53A>G (p.Lys18Arg)
|
rs1214893591
|
0.00006
|
|
NM_024334.3(TMEM43):c.578C>T (p.Ser193Leu)
|
rs140380494
|
0.00006
|
|
NM_024334.3(TMEM43):c.797G>A (p.Arg266Gln)
|
rs193922707
|
0.00006
|
|
NM_024422.6(DSC2):c.1091T>G (p.Val364Gly)
|
rs368089478
|
0.00006
|
|
NM_024422.6(DSC2):c.1264-18A>G
|
rs374946259
|
0.00006
|
|
NM_024422.6(DSC2):c.1291A>G (p.Met431Val)
|
rs377287621
|
0.00006
|
|
NM_024422.6(DSC2):c.2162C>T (p.Thr721Met)
|
rs759513934
|
0.00006
|
|
NM_024422.6(DSC2):c.2245A>C (p.Lys749Gln)
|
rs765067237
|
0.00006
|
|
NM_024422.6(DSC2):c.2603C>T (p.Ser868Phe)
|
rs141873745
|
0.00006
|
|
NM_024422.6(DSC2):c.266C>T (p.Ser89Leu)
|
rs141379407
|
0.00006
|
|
NM_032578.4(MYPN):c.1103G>A (p.Gly368Asp)
|
rs555527385
|
0.00006
|
|
NM_032578.4(MYPN):c.1130+3A>C
|
rs770005365
|
0.00006
|
|
NM_032578.4(MYPN):c.1466G>A (p.Arg489Gln)
|
rs141031460
|
0.00006
|
|
NM_032578.4(MYPN):c.1757A>G (p.Asn586Ser)
|
rs550455783
|
0.00006
|
|
NM_032578.4(MYPN):c.2507C>T (p.Ser836Phe)
|
rs376141715
|
0.00006
|
|
NM_032578.4(MYPN):c.2540G>T (p.Gly847Val)
|
rs181848049
|
0.00006
|
|
NM_032578.4(MYPN):c.2974T>G (p.Cys992Gly)
|
rs367955895
|
0.00006
|
|
NM_032578.4(MYPN):c.3440T>A (p.Ile1147Asn)
|
rs201600440
|
0.00006
|
|
NM_032578.4(MYPN):c.3763G>A (p.Val1255Met)
|
rs750655311
|
0.00006
|
|
NM_032578.4(MYPN):c.782A>G (p.Tyr261Cys)
|
rs148034353
|
0.00006
|
|
NM_033118.4(MYLK2):c.1018C>T (p.Arg340Cys)
|
rs763678910
|
0.00006
|
|
NM_033118.4(MYLK2):c.1700G>A (p.Arg567Lys)
|
rs139331477
|
0.00006
|
|
NM_033118.4(MYLK2):c.1710+5C>T
|
rs574644297
|
0.00006
|
|
NM_033118.4(MYLK2):c.425G>T (p.Gly142Val)
|
rs56385445
|
0.00006
|
|
NM_033118.4(MYLK2):c.463A>T (p.Ile155Phe)
|
rs140233643
|
0.00006
|
|
NM_033118.4(MYLK2):c.572C>T (p.Ala191Val)
|
rs778578033
|
0.00006
|
|
NM_033118.4(MYLK2):c.595A>G (p.Ile199Val)
|
rs193922712
|
0.00006
|
|
NM_144573.4(NEXN):c.1453G>A (p.Glu485Lys)
|
rs368812830
|
0.00006
|
|
NM_144573.4(NEXN):c.1957A>G (p.Met653Val)
|
rs765745920
|
0.00006
|
|
NM_144573.4(NEXN):c.2012T>C (p.Ile671Thr)
|
rs747781785
|
0.00006
|
|
NM_144573.4(NEXN):c.250G>A (p.Glu84Lys)
|
rs547319928
|
0.00006
|
|
NM_144573.4(NEXN):c.687+4A>T
|
rs754061340
|
0.00006
|
|
NM_145046.5(CALR3):c.1003G>A (p.Glu335Lys)
|
rs199535524
|
0.00006
|
|
NM_145046.5(CALR3):c.323G>C (p.Gly108Ala)
|
rs139061471
|
0.00006
|
|
NM_152594.3(SPRED1):c.1105A>T (p.Met369Leu)
|
rs779660163
|
0.00006
|
|
NM_152594.3(SPRED1):c.1273A>G (p.Met425Val)
|
rs368307475
|
0.00006
|
|
NM_152594.3(SPRED1):c.1283G>A (p.Arg428His)
|
rs369492789
|
0.00006
|
|
NM_152594.3(SPRED1):c.1289G>C (p.Gly430Ala)
|
rs749389617
|
0.00006
|
|
NM_152594.3(SPRED1):c.640C>T (p.Arg214Trp)
|
rs376699107
|
0.00006
|
|
NM_181703.4(GJA5):c.365C>T (p.Ser122Phe)
|
rs781831348
|
0.00006
|
|
NM_182914.3(SYNE2):c.10051G>C (p.Glu3351Gln)
|
rs750654159
|
0.00006
|
|
NM_182914.3(SYNE2):c.1031A>G (p.Lys344Arg)
|
rs776084455
|
0.00006
|
|
NM_182914.3(SYNE2):c.10495A>C (p.Lys3499Gln)
|
rs752900825
|
0.00006
|
|
NM_182914.3(SYNE2):c.11876C>T (p.Thr3959Ile)
|
rs149790389
|
0.00006
|
|
NM_182914.3(SYNE2):c.12397G>T (p.Ala4133Ser)
|
rs758104840
|
0.00006
|
|
NM_182914.3(SYNE2):c.12407C>T (p.Ser4136Leu)
|
rs148970735
|
0.00006
|
|
NM_182914.3(SYNE2):c.12614C>T (p.Thr4205Ile)
|
rs376207235
|
0.00006
|
|
NM_182914.3(SYNE2):c.14646+6T>A
|
rs369760846
|
0.00006
|
|
NM_182914.3(SYNE2):c.14976+3A>G
|
rs747632731
|
0.00006
|
|
NM_182914.3(SYNE2):c.15185G>A (p.Arg5062His)
|
rs760110795
|
0.00006
|
|
NM_182914.3(SYNE2):c.15439A>G (p.Met5147Val)
|
rs778595864
|
0.00006
|
|
NM_182914.3(SYNE2):c.16084A>G (p.Thr5362Ala)
|
rs141943858
|
0.00006
|
|
NM_182914.3(SYNE2):c.17524G>A (p.Glu5842Lys)
|
rs769564739
|
0.00006
|
|
NM_182914.3(SYNE2):c.17591A>G (p.Asn5864Ser)
|
rs566886977
|
0.00006
|
|
NM_182914.3(SYNE2):c.17791G>A (p.Ala5931Thr)
|
rs945430507
|
0.00006
|
|
NM_182914.3(SYNE2):c.18706G>A (p.Val6236Ile)
|
rs113434745
|
0.00006
|
|
NM_182914.3(SYNE2):c.19142G>A (p.Arg6381Gln)
|
rs140857065
|
0.00006
|
|
NM_182914.3(SYNE2):c.19151G>A (p.Ser6384Asn)
|
rs1440528762
|
0.00006
|
|
NM_182914.3(SYNE2):c.19316A>C (p.Tyr6439Ser)
|
rs753261176
|
0.00006
|
|
NM_182914.3(SYNE2):c.20140G>A (p.Asp6714Asn)
|
rs751000273
|
0.00006
|
|
NM_182914.3(SYNE2):c.296C>G (p.Thr99Arg)
|
rs557215551
|
0.00006
|
|
NM_182914.3(SYNE2):c.3829C>T (p.Arg1277Cys)
|
rs530177448
|
0.00006
|
|
NM_182914.3(SYNE2):c.4252G>C (p.Val1418Leu)
|
rs770898049
|
0.00006
|
|
NM_182914.3(SYNE2):c.4906G>A (p.Asp1636Asn)
|
rs1030213853
|
0.00006
|
|
NM_182914.3(SYNE2):c.593A>G (p.Tyr198Cys)
|
rs377436719
|
0.00006
|
|
NM_182914.3(SYNE2):c.6172A>G (p.Lys2058Glu)
|
rs762452734
|
0.00006
|
|
NM_182914.3(SYNE2):c.6946G>A (p.Val2316Ile)
|
rs192424808
|
0.00006
|
|
NM_182914.3(SYNE2):c.7300C>T (p.Arg2434Trp)
|
rs570233690
|
0.00006
|
|
NM_182914.3(SYNE2):c.7358A>T (p.Glu2453Val)
|
rs367811181
|
0.00006
|
|
NM_182914.3(SYNE2):c.7846A>C (p.Lys2616Gln)
|
rs765783307
|
0.00006
|
|
NM_182914.3(SYNE2):c.8524A>G (p.Ile2842Val)
|
rs370213701
|
0.00006
|
|
NM_182914.3(SYNE2):c.8546T>C (p.Met2849Thr)
|
rs759525460
|
0.00006
|
|
NM_182914.3(SYNE2):c.8691G>C (p.Glu2897Asp)
|
rs758754933
|
0.00006
|
|
NM_182961.4(SYNE1):c.10160C>G (p.Ala3387Gly)
|
rs201621810
|
0.00006
|
|
NM_182961.4(SYNE1):c.11475C>G (p.Cys3825Trp)
|
rs146919170
|
0.00006
|
|
NM_182961.4(SYNE1):c.11999C>A (p.Ala4000Glu)
|
rs375752705
|
0.00006
|
|
NM_182961.4(SYNE1):c.12355G>A (p.Glu4119Lys)
|
rs148935596
|
0.00006
|
|
NM_182961.4(SYNE1):c.12667C>T (p.Arg4223Cys)
|
rs145738035
|
0.00006
|
|
NM_182961.4(SYNE1):c.13031A>T (p.Glu4344Val)
|
rs145639107
|
0.00006
|
|
NM_182961.4(SYNE1):c.13102G>A (p.Ala4368Thr)
|
rs201900423
|
0.00006
|
|
NM_182961.4(SYNE1):c.13208C>T (p.Ser4403Leu)
|
rs139490297
|
0.00006
|
|
NM_182961.4(SYNE1):c.1330C>T (p.Arg444Trp)
|
rs75153800
|
0.00006
|
|
NM_182961.4(SYNE1):c.13631A>C (p.Asp4544Ala)
|
rs149081144
|
0.00006
|
|
NM_182961.4(SYNE1):c.13656C>A (p.His4552Gln)
|
rs1267929537
|
0.00006
|
|
NM_182961.4(SYNE1):c.13852C>A (p.Leu4618Ile)
|
rs147125369
|
0.00006
|
|
NM_182961.4(SYNE1):c.14258T>C (p.Leu4753Pro)
|
rs371189077
|
0.00006
|
|
NM_182961.4(SYNE1):c.14314T>G (p.Leu4772Val)
|
rs143910248
|
0.00006
|
|
NM_182961.4(SYNE1):c.1665A>C (p.Gln555His)
|
rs561648669
|
0.00006
|
|
NM_182961.4(SYNE1):c.18946G>A (p.Val6316Ile)
|
rs557729565
|
0.00006
|
|
NM_182961.4(SYNE1):c.19544T>C (p.Phe6515Ser)
|
rs747674900
|
0.00006
|
|
NM_182961.4(SYNE1):c.21706G>A (p.Ala7236Thr)
|
rs202121741
|
0.00006
|
|
NM_182961.4(SYNE1):c.22016C>A (p.Ala7339Asp)
|
rs146907132
|
0.00006
|
|
NM_182961.4(SYNE1):c.23983G>A (p.Glu7995Lys)
|
rs781626097
|
0.00006
|
|
NM_182961.4(SYNE1):c.245G>A (p.Arg82Gln)
|
rs143900928
|
0.00006
|
|
NM_182961.4(SYNE1):c.25103C>T (p.Thr8368Ile)
|
rs371476665
|
0.00006
|
|
NM_182961.4(SYNE1):c.25283C>A (p.Ala8428Glu)
|
rs775901718
|
0.00006
|
|
NM_182961.4(SYNE1):c.25577A>C (p.Gln8526Pro)
|
rs770802176
|
0.00006
|
|
NM_182961.4(SYNE1):c.25952G>A (p.Arg8651His)
|
rs144888773
|
0.00006
|
|
NM_182961.4(SYNE1):c.310-468G>A
|
rs143635963
|
0.00006
|
|
NM_182961.4(SYNE1):c.334A>T (p.Thr112Ser)
|
rs750010888
|
0.00006
|
|
NM_182961.4(SYNE1):c.3433A>G (p.Thr1145Ala)
|
rs148733093
|
0.00006
|
|
NM_182961.4(SYNE1):c.3436C>G (p.Gln1146Glu)
|
rs760256766
|
0.00006
|
|
NM_182961.4(SYNE1):c.3872A>G (p.Asp1291Gly)
|
rs148000801
|
0.00006
|
|
NM_182961.4(SYNE1):c.4562G>A (p.Arg1521Gln)
|
rs149606474
|
0.00006
|
|
NM_182961.4(SYNE1):c.4819A>G (p.Ser1607Gly)
|
rs752342922
|
0.00006
|
|
NM_182961.4(SYNE1):c.5049G>T (p.Met1683Ile)
|
rs755866233
|
0.00006
|
|
NM_182961.4(SYNE1):c.5228A>G (p.Asp1743Gly)
|
rs555731770
|
0.00006
|
|
NM_182961.4(SYNE1):c.5392G>T (p.Asp1798Tyr)
|
rs772266857
|
0.00006
|
|
NM_182961.4(SYNE1):c.5441A>G (p.Glu1814Gly)
|
rs557081125
|
0.00006
|
|
NM_182961.4(SYNE1):c.5644G>T (p.Gly1882Cys)
|
rs747706541
|
0.00006
|
|
NM_182961.4(SYNE1):c.6094G>A (p.Glu2032Lys)
|
rs367594476
|
0.00006
|
|
NM_182961.4(SYNE1):c.666G>A (p.Pro222=)
|
rs141368652
|
0.00006
|
|
NM_182961.4(SYNE1):c.7474G>T (p.Ala2492Ser)
|
rs761396972
|
0.00006
|
|
NM_182961.4(SYNE1):c.7478A>G (p.Asn2493Ser)
|
rs763615170
|
0.00006
|
|
NM_182961.4(SYNE1):c.8716G>A (p.Glu2906Lys)
|
rs140568392
|
0.00006
|
|
NM_182961.4(SYNE1):c.9117A>C (p.Lys3039Asn)
|
rs77221231
|
0.00006
|
|
NM_182961.4(SYNE1):c.9807+6G>A
|
rs376694958
|
0.00006
|
|
NM_182961.4(SYNE1):c.9896C>T (p.Ala3299Val)
|
rs373760161
|
0.00006
|
|
NM_000018.4(ACADVL):c.1754C>T (p.Ala585Val)
|
rs374729641
|
0.00005
|
|
NM_000023.4(SGCA):c.575G>A (p.Arg192Gln)
|
rs200945974
|
0.00005
|
|
NM_000117.3(EMD):c.215A>T (p.Asp72Val)
|
rs794729021
|
0.00005
|
|
NM_000152.5(GAA):c.1409A>C (p.Asn470Thr)
|
rs144155165
|
0.00005
|
|
NM_000152.5(GAA):c.1639G>A (p.Val547Met)
|
rs751102729
|
0.00005
|
|
NM_000152.5(GAA):c.2092G>A (p.Ala698Thr)
|
rs367632754
|
0.00005
|
|
NM_000152.5(GAA):c.2408A>G (p.Gln803Arg)
|
rs142487534
|
0.00005
|
|
NM_000152.5(GAA):c.2510G>A (p.Arg837His)
|
rs746095374
|
0.00005
|
|
NM_000152.5(GAA):c.2581G>A (p.Asp861Asn)
|
rs372604133
|
0.00005
|
|
NM_000152.5(GAA):c.2672G>A (p.Arg891His)
|
rs199524847
|
0.00005
|
|
NM_000152.5(GAA):c.2725G>A (p.Val909Met)
|
rs138407065
|
0.00005
|
|
NM_000231.3(SGCG):c.101G>A (p.Arg34His)
|
rs755404457
|
0.00005
|
|
NM_000231.3(SGCG):c.505+6T>C
|
rs372684728
|
0.00005
|
|
NM_000231.3(SGCG):c.824C>T (p.Ser275Phe)
|
rs780747031
|
0.00005
|
|
NM_000232.5(SGCB):c.443A>G (p.Gln148Arg)
|
rs201006370
|
0.00005
|
|
NM_000232.5(SGCB):c.841G>A (p.Asp281Asn)
|
rs374923265
|
0.00005
|
|
NM_000256.3(MYBPC3):c.1372C>T (p.Arg458Cys)
|
rs377577698
|
0.00005
|
|
NM_000256.3(MYBPC3):c.1672G>A (p.Ala558Thr)
|
rs727503198
|
0.00005
|
|
NM_000256.3(MYBPC3):c.1831G>A (p.Glu611Lys)
|
rs730880555
|
0.00005
|
|
NM_000256.3(MYBPC3):c.187C>T (p.Arg63Trp)
|
rs373315466
|
0.00005
|
|
NM_000256.3(MYBPC3):c.3123C>T (p.Gly1041=)
|
rs374626656
|
0.00005
|
|
NM_000256.3(MYBPC3):c.3190+4C>T
|
rs571457875
|
0.00005
|
|
NM_000256.3(MYBPC3):c.3569G>A (p.Arg1190His)
|
rs117354682
|
0.00005
|
|
NM_000256.3(MYBPC3):c.3799C>T (p.Arg1267Cys)
|
rs765825263
|
0.00005
|
|
NM_000256.3(MYBPC3):c.836G>C (p.Gly279Ala)
|
rs375774648
|
0.00005
|
|
NM_000257.4(MYH7):c.1261A>G (p.Ile421Val)
|
rs747189113
|
0.00005
|
|
NM_000257.4(MYH7):c.4010G>A (p.Arg1337Gln)
|
rs368575559
|
0.00005
|
|
NM_000257.4(MYH7):c.4294G>A (p.Val1432Ile)
|
rs144200285
|
0.00005
|
|
NM_000257.4(MYH7):c.4519+6C>T
|
rs370779504
|
0.00005
|
|
NM_000257.4(MYH7):c.4840G>A (p.Val1614Met)
|
rs1200299259
|
0.00005
|
|
NM_000257.4(MYH7):c.5243G>A (p.Cys1748Tyr)
|
rs200303340
|
0.00005
|
|
NM_000257.4(MYH7):c.5559+4C>T
|
rs727504319
|
0.00005
|
|
NM_000257.4(MYH7):c.67C>T (p.Arg23Trp)
|
rs730880828
|
0.00005
|
|
NM_000257.4(MYH7):c.894G>A (p.Leu298=)
|
rs147062651
|
0.00005
|
|
NM_000371.4(TTR):c.13C>T (p.Arg5Cys)
|
rs144792001
|
0.00005
|
|
NM_000371.4(TTR):c.385G>A (p.Ala129Thr)
|
rs267607159
|
0.00005
|
|
NM_000432.4(MYL2):c.433G>A (p.Asp145Asn)
|
rs199567559
|
0.00005
|
|
NM_000432.4(MYL2):c.469C>T (p.His157Tyr)
|
rs777223055
|
0.00005
|
|
NM_001005242.3(PKP2):c.1379-2072C>T
|
rs758950276
|
0.00005
|
|
NM_001005242.3(PKP2):c.1451C>T (p.Thr484Met)
|
rs774942476
|
0.00005
|
|
NM_001005242.3(PKP2):c.1809T>G (p.Cys603Trp)
|
rs767935208
|
0.00005
|
|
NM_001005242.3(PKP2):c.895C>T (p.Arg299Cys)
|
rs564987195
|
0.00005
|
|
NM_001005242.3(PKP2):c.899C>A (p.Thr300Lys)
|
rs553098424
|
0.00005
|
|
NM_001005242.3(PKP2):c.974C>T (p.Ala325Val)
|
rs201803918
|
0.00005
|
|
NM_001035.3(RYR2):c.11206G>A (p.Ala3736Thr)
|
rs375095599
|
0.00005
|
|
NM_001035.3(RYR2):c.1973A>G (p.Asn658Ser)
|
rs2009813
|
0.00005
|
|
NM_001035.3(RYR2):c.2039A>G (p.Asp680Gly)
|
rs758835308
|
0.00005
|
|
NM_001035.3(RYR2):c.8147A>T (p.Lys2716Ile)
|
rs749618476
|
0.00005
|
|
NM_001035.3(RYR2):c.815G>T (p.Arg272Leu)
|
rs377368967
|
0.00005
|
|
NM_001035.3(RYR2):c.9251G>A (p.Arg3084Gln)
|
rs747605864
|
0.00005
|
|
NM_001103.4(ACTN2):c.127-3C>A
|
rs368775036
|
0.00005
|
|
NM_001103.4(ACTN2):c.2497G>A (p.Ala833Thr)
|
rs200854335
|
0.00005
|
|
NM_001105206.3(LAMA4):c.1837A>G (p.Met613Val)
|
rs371083384
|
0.00005
|
|
NM_001105206.3(LAMA4):c.2626G>A (p.Glu876Lys)
|
rs147206383
|
0.00005
|
|
NM_001105206.3(LAMA4):c.3406T>C (p.Tyr1136His)
|
rs148462898
|
0.00005
|
|
NM_001105206.3(LAMA4):c.4208C>T (p.Pro1403Leu)
|
rs1255830395
|
0.00005
|
|
NM_001105206.3(LAMA4):c.4572G>C (p.Leu1524Phe)
|
rs145315273
|
0.00005
|
|
NM_001105206.3(LAMA4):c.5380C>T (p.Arg1794Cys)
|
rs781802725
|
0.00005
|
|
NM_001130965.3(SUN1):c.1362G>T (p.Lys454Asn)
|
rs202122012
|
0.00005
|
|
NM_001130965.3(SUN1):c.163A>G (p.Ser55Gly)
|
rs777193403
|
0.00005
|
|
NM_001130965.3(SUN1):c.722C>T (p.Ala241Val)
|
rs369311027
|
0.00005
|
|
NM_001130965.3(SUN1):c.763G>A (p.Ala255Thr)
|
rs201864272
|
0.00005
|
|
NM_001159699.2(FHL1):c.53C>T (p.Ala18Val)
|
rs146125558
|
0.00005
|
|
NM_001159699.2(FHL1):c.817G>A (p.Val273Met)
|
rs190006104
|
0.00005
|
|
NM_001161403.3(LIMS2):c.154G>A (p.Glu52Lys)
|
rs374235568
|
0.00005
|
|
NM_001161403.3(LIMS2):c.289C>T (p.Pro97Ser)
|
rs368536679
|
0.00005
|
|
NM_001161403.3(LIMS2):c.301C>T (p.Arg101Cys)
|
rs201636855
|
0.00005
|
|
NM_001161403.3(LIMS2):c.616G>A (p.Glu206Lys)
|
rs368003558
|
0.00005
|
|
NM_001161403.3(LIMS2):c.793G>A (p.Glu265Lys)
|
rs199761833
|
0.00005
|
|
NM_001232.4(CASQ2):c.158G>T (p.Cys53Phe)
|
rs151168851
|
0.00005
|
|
NM_001232.4(CASQ2):c.173A>T (p.Glu58Val)
|
rs764732977
|
0.00005
|
|
NM_001267550.2(TTN):c.101213G>A (p.Arg33738His)
|
rs192391568
|
0.00005
|
|
NM_001267550.2(TTN):c.101251A>C (p.Asn33751His)
|
rs753658469
|
0.00005
|
|
NM_001267550.2(TTN):c.101439G>A (p.Lys33813=)
|
rs72629781
|
0.00005
|
|
NM_001267550.2(TTN):c.101506T>A (p.Cys33836Ser)
|
rs766439271
|
0.00005
|
|
NM_001267550.2(TTN):c.102173G>A (p.Arg34058Lys)
|
rs886039007
|
0.00005
|
|
NM_001267550.2(TTN):c.102424A>C (p.Ile34142Leu)
|
rs528796532
|
0.00005
|
|
NM_001267550.2(TTN):c.102451G>C (p.Gly34151Arg)
|
rs191522469
|
0.00005
|
|
NM_001267550.2(TTN):c.103786C>T (p.Arg34596Cys)
|
rs372754970
|
0.00005
|
|
NM_001267550.2(TTN):c.105521G>A (p.Arg35174His)
|
rs756575734
|
0.00005
|
|
NM_001267550.2(TTN):c.106388G>C (p.Gly35463Ala)
|
rs373369136
|
0.00005
|
|
NM_001267550.2(TTN):c.10654G>C (p.Ala3552Pro)
|
rs774004409
|
0.00005
|
|
NM_001267550.2(TTN):c.106585A>C (p.Thr35529Pro)
|
rs372116188
|
0.00005
|
|
NM_001267550.2(TTN):c.107080C>G (p.Leu35694Val)
|
rs769369764
|
0.00005
|
|
NM_001267550.2(TTN):c.11362G>A (p.Glu3788Lys)
|
rs540469851
|
0.00005
|
|
NM_001267550.2(TTN):c.11855G>A (p.Gly3952Glu)
|
rs779033634
|
0.00005
|
|
NM_001267550.2(TTN):c.14662C>G (p.Pro4888Ala)
|
rs376799249
|
0.00005
|
|
NM_001267550.2(TTN):c.16550C>T (p.Ser5517Leu)
|
rs769165258
|
0.00005
|
|
NM_001267550.2(TTN):c.1800+1G>A
|
rs397517497
|
0.00005
|
|
NM_001267550.2(TTN):c.1895G>A (p.Gly632Asp)
|
rs150231219
|
0.00005
|
|
NM_001267550.2(TTN):c.20354C>T (p.Ser6785Leu)
|
rs201586695
|
0.00005
|
|
NM_001267550.2(TTN):c.208G>A (p.Val70Met)
|
rs772248060
|
0.00005
|
|
NM_001267550.2(TTN):c.23065G>A (p.Asp7689Asn)
|
rs727505052
|
0.00005
|
|
NM_001267550.2(TTN):c.24358C>T (p.Pro8120Ser)
|
rs745913661
|
0.00005
|
|
NM_001267550.2(TTN):c.26619C>A (p.Asp8873Glu)
|
rs772596633
|
0.00005
|
|
NM_001267550.2(TTN):c.2734C>T (p.Arg912Cys)
|
rs371156190
|
0.00005
|
|
NM_001267550.2(TTN):c.28205G>A (p.Arg9402His)
|
rs773986121
|
0.00005
|
|
NM_001267550.2(TTN):c.28466G>A (p.Arg9489Gln)
|
rs189431308
|
0.00005
|
|
NM_001267550.2(TTN):c.3035G>A (p.Arg1012Gln)
|
rs368885310
|
0.00005
|
|
NM_001267550.2(TTN):c.31762G>A (p.Val10588Ile)
|
rs372371333
|
0.00005
|
|
NM_001267550.2(TTN):c.32555-2A>C
|
rs781581062
|
0.00005
|
|
NM_001267550.2(TTN):c.33049G>A (p.Glu11017Lys)
|
rs753930002
|
0.00005
|
|
NM_001267550.2(TTN):c.39250G>T (p.Val13084Leu)
|
rs72650062
|
0.00005
|
|
NM_001267550.2(TTN):c.39427G>A (p.Val13143Ile)
|
rs375956503
|
0.00005
|
|
NM_001267550.2(TTN):c.39941C>A (p.Thr13314Asn)
|
rs543338451
|
0.00005
|
|
NM_001267550.2(TTN):c.4153G>A (p.Ala1385Thr)
|
rs140760859
|
0.00005
|
|
NM_001267550.2(TTN):c.415C>T (p.Arg139Trp)
|
rs752970602
|
0.00005
|
|
NM_001267550.2(TTN):c.42023C>T (p.Pro14008Leu)
|
rs751709914
|
0.00005
|
|
NM_001267550.2(TTN):c.4321C>T (p.Arg1441Cys)
|
rs146241078
|
0.00005
|
|
NM_001267550.2(TTN):c.43355G>T (p.Arg14452Ile)
|
rs528741819
|
0.00005
|
|
NM_001267550.2(TTN):c.44078G>A (p.Arg14693His)
|
rs746380621
|
0.00005
|
|
NM_001267550.2(TTN):c.44542G>A (p.Val14848Met)
|
rs759373140
|
0.00005
|
|
NM_001267550.2(TTN):c.44900G>A (p.Arg14967Gln)
|
rs752671402
|
0.00005
|
|
NM_001267550.2(TTN):c.4990C>T (p.Arg1664Trp)
|
rs147695336
|
0.00005
|
|
NM_001267550.2(TTN):c.54167G>A (p.Arg18056Gln)
|
rs376932266
|
0.00005
|
|
NM_001267550.2(TTN):c.54178G>A (p.Val18060Ile)
|
rs190574498
|
0.00005
|
|
NM_001267550.2(TTN):c.54581G>A (p.Gly18194Asp)
|
rs201802447
|
0.00005
|
|
NM_001267550.2(TTN):c.54999A>T (p.Glu18333Asp)
|
rs764950995
|
0.00005
|
|
NM_001267550.2(TTN):c.56351G>A (p.Arg18784His)
|
rs771284532
|
0.00005
|
|
NM_001267550.2(TTN):c.57593A>G (p.Asn19198Ser)
|
rs199787097
|
0.00005
|
|
NM_001267550.2(TTN):c.59074A>G (p.Thr19692Ala)
|
rs771977738
|
0.00005
|
|
NM_001267550.2(TTN):c.59657T>G (p.Val19886Gly)
|
rs755949982
|
0.00005
|
|
NM_001267550.2(TTN):c.59813C>T (p.Ala19938Val)
|
rs1187337182
|
0.00005
|
|
NM_001267550.2(TTN):c.59926C>T (p.His19976Tyr)
|
rs727503588
|
0.00005
|
|
NM_001267550.2(TTN):c.60140G>A (p.Arg20047Lys)
|
rs371060708
|
0.00005
|
|
NM_001267550.2(TTN):c.60932G>A (p.Arg20311Gln)
|
rs373062007
|
0.00005
|
|
NM_001267550.2(TTN):c.61289G>A (p.Cys20430Tyr)
|
rs527704660
|
0.00005
|
|
NM_001267550.2(TTN):c.61916A>G (p.Tyr20639Cys)
|
rs756303390
|
0.00005
|
|
NM_001267550.2(TTN):c.61992C>G (p.Asn20664Lys)
|
rs376455983
|
0.00005
|
|
NM_001267550.2(TTN):c.66527C>T (p.Ser22176Phe)
|
rs779303152
|
0.00005
|
|
NM_001267550.2(TTN):c.67322A>G (p.Glu22441Gly)
|
rs201223583
|
0.00005
|
|
NM_001267550.2(TTN):c.68298C>A (p.Asp22766Glu)
|
rs534340303
|
0.00005
|
|
NM_001267550.2(TTN):c.69376G>C (p.Val23126Leu)
|
rs756671149
|
0.00005
|
|
NM_001267550.2(TTN):c.70102A>G (p.Ile23368Val)
|
rs367914610
|
0.00005
|
|
NM_001267550.2(TTN):c.71699G>A (p.Arg23900Gln)
|
rs369292052
|
0.00005
|
|
NM_001267550.2(TTN):c.74305A>G (p.Asn24769Asp)
|
rs372787601
|
0.00005
|
|
NM_001267550.2(TTN):c.78431T>C (p.Ile26144Thr)
|
rs183015944
|
0.00005
|
|
NM_001267550.2(TTN):c.80168G>A (p.Arg26723His)
|
rs371615296
|
0.00005
|
|
NM_001267550.2(TTN):c.81647G>A (p.Arg27216His)
|
rs371910831
|
0.00005
|
|
NM_001267550.2(TTN):c.8312T>C (p.Ile2771Thr)
|
rs780465670
|
0.00005
|
|
NM_001267550.2(TTN):c.83630G>A (p.Arg27877His)
|
rs371345921
|
0.00005
|
|
NM_001267550.2(TTN):c.84072A>C (p.Glu28024Asp)
|
rs377540780
|
0.00005
|
|
NM_001267550.2(TTN):c.84848A>G (p.Lys28283Arg)
|
rs545841306
|
0.00005
|
|
NM_001267550.2(TTN):c.84964C>T (p.Arg28322Cys)
|
rs774978209
|
0.00005
|
|
NM_001267550.2(TTN):c.86983G>A (p.Ala28995Thr)
|
rs774191975
|
0.00005
|
|
NM_001267550.2(TTN):c.87010G>A (p.Gly29004Ser)
|
rs761251825
|
0.00005
|
|
NM_001267550.2(TTN):c.87449T>C (p.Ile29150Thr)
|
rs373106927
|
0.00005
|
|
NM_001267550.2(TTN):c.89500C>A (p.Leu29834Ile)
|
rs761591533
|
0.00005
|
|
NM_001267550.2(TTN):c.89711G>A (p.Arg29904His)
|
rs397517744
|
0.00005
|
|
NM_001267550.2(TTN):c.89760A>C (p.Glu29920Asp)
|
rs747181293
|
0.00005
|
|
NM_001267550.2(TTN):c.899C>A (p.Thr300Asn)
|
rs376737897
|
0.00005
|
|
NM_001267550.2(TTN):c.90452T>C (p.Leu30151Pro)
|
rs568322187
|
0.00005
|
|
NM_001267550.2(TTN):c.92451G>T (p.Glu30817Asp)
|
rs397517755
|
0.00005
|
|
NM_001267550.2(TTN):c.93917T>C (p.Ile31306Thr)
|
rs555405542
|
0.00005
|
|
NM_001267550.2(TTN):c.94700A>G (p.Asn31567Ser)
|
rs886042885
|
0.00005
|
|
NM_001267550.2(TTN):c.9509T>C (p.Val3170Ala)
|
rs779339626
|
0.00005
|
|
NM_001267550.2(TTN):c.95716C>G (p.Pro31906Ala)
|
rs755949122
|
0.00005
|
|
NM_001267550.2(TTN):c.96182T>C (p.Ile32061Thr)
|
rs376202976
|
0.00005
|
|
NM_001267550.2(TTN):c.96286G>A (p.Ala32096Thr)
|
rs376039623
|
0.00005
|
|
NM_001267550.2(TTN):c.97378A>G (p.Lys32460Glu)
|
rs965156924
|
0.00005
|
|
NM_001267550.2(TTN):c.9851A>G (p.Lys3284Arg)
|
rs147903846
|
0.00005
|
|
NM_001267550.2(TTN):c.98866A>G (p.Met32956Val)
|
rs727503538
|
0.00005
|
|
NM_001267550.2(TTN):c.99434G>A (p.Arg33145Gln)
|
rs371531675
|
0.00005
|
|
NM_001276345.2(TNNT2):c.887G>A (p.Arg296His)
|
rs141121678
|
0.00005
|
|
NM_001289808.2(CRYAB):c.367C>T (p.Arg123Trp)
|
rs534473091
|
0.00005
|
|
NM_001289808.2(CRYAB):c.470G>A (p.Arg157His)
|
rs141638421
|
0.00005
|
|
NM_001318895.3(FHL2):c.374C>A (p.Thr125Asn)
|
rs773356788
|
0.00005
|
|
NM_001318895.3(FHL2):c.725G>A (p.Arg242Gln)
|
rs188279857
|
0.00005
|
|
NM_001386795.1(DTNA):c.1813C>T (p.Arg605Trp)
|
rs749405895
|
0.00005
|
|
NM_001458.5(FLNC):c.2272G>A (p.Val758Met)
|
rs371418145
|
0.00005
|
|
NM_001458.5(FLNC):c.2425G>A (p.Val809Met)
|
rs775770671
|
0.00005
|
|
NM_001458.5(FLNC):c.2888C>T (p.Pro963Leu)
|
rs963838554
|
0.00005
|
|
NM_001458.5(FLNC):c.3790G>A (p.Gly1264Ser)
|
rs201335143
|
0.00005
|
|
NM_001458.5(FLNC):c.4092G>C (p.Leu1364Phe)
|
rs768635501
|
0.00005
|
|
NM_001458.5(FLNC):c.4222G>A (p.Glu1408Lys)
|
rs965589915
|
0.00005
|
|
NM_001458.5(FLNC):c.4627C>T (p.Arg1543Trp)
|
rs745648230
|
0.00005
|
|
NM_001458.5(FLNC):c.517G>T (p.Val173Leu)
|
rs376235207
|
0.00005
|
|
NM_001458.5(FLNC):c.5431C>T (p.Arg1811Trp)
|
rs374794518
|
0.00005
|
|
NM_001927.4(DES):c.1009G>A (p.Ala337Thr)
|
rs59962885
|
0.00005
|
|
NM_001927.4(DES):c.1123C>T (p.Arg375Trp)
|
rs375218723
|
0.00005
|
|
NM_001927.4(DES):c.1371+1G>A
|
rs748323823
|
0.00005
|
|
NM_001943.5(DSG2):c.175C>T (p.Arg59Trp)
|
rs749602291
|
0.00005
|
|
NM_001943.5(DSG2):c.2275G>A (p.Gly759Arg)
|
rs765793636
|
0.00005
|
|
NM_001943.5(DSG2):c.2341G>T (p.Ala781Ser)
|
rs760402926
|
0.00005
|
|
NM_001943.5(DSG2):c.2471G>A (p.Arg824His)
|
rs376858770
|
0.00005
|
|
NM_001943.5(DSG2):c.2597C>T (p.Ala866Val)
|
rs553730922
|
0.00005
|
|
NM_001943.5(DSG2):c.2897G>C (p.Arg966Thr)
|
rs764925318
|
0.00005
|
|
NM_001943.5(DSG2):c.3095C>T (p.Thr1032Ile)
|
rs775546937
|
0.00005
|
|
NM_001943.5(DSG2):c.862G>A (p.Val288Ile)
|
rs780374242
|
0.00005
|
|
NM_001943.5(DSG2):c.961T>A (p.Phe321Ile)
|
rs201040643
|
0.00005
|
|
NM_002230.4(JUP):c.1039G>A (p.Ala347Thr)
|
rs782301706
|
0.00005
|
|
NM_002230.4(JUP):c.1130G>A (p.Arg377His)
|
rs794729044
|
0.00005
|
|
NM_002230.4(JUP):c.2102A>G (p.Tyr701Cys)
|
rs781857012
|
0.00005
|
|
NM_002230.4(JUP):c.412G>A (p.Glu138Lys)
|
rs150245906
|
0.00005
|
|
NM_002230.4(JUP):c.460G>A (p.Glu154Lys)
|
rs782765314
|
0.00005
|
|
NM_002230.4(JUP):c.989C>A (p.Thr330Asn)
|
rs782145797
|
0.00005
|
|
NM_002230.4(JUP):c.998G>A (p.Arg333His)
|
rs727503099
|
0.00005
|
|
NM_002471.4(MYH6):c.1177T>G (p.Ser393Ala)
|
rs199877580
|
0.00005
|
|
NM_002471.4(MYH6):c.1703G>A (p.Arg568His)
|
rs376291577
|
0.00005
|
|
NM_002471.4(MYH6):c.190G>A (p.Glu64Lys)
|
rs750818212
|
0.00005
|
|
NM_002471.4(MYH6):c.2354G>A (p.Arg785His)
|
rs769341738
|
0.00005
|
|
NM_002471.4(MYH6):c.3785G>A (p.Arg1262His)
|
rs544358806
|
0.00005
|
|
NM_002471.4(MYH6):c.5026G>A (p.Val1676Met)
|
rs773755388
|
0.00005
|
|
NM_002471.4(MYH6):c.5642A>G (p.Lys1881Arg)
|
rs750886219
|
0.00005
|
|
NM_002471.4(MYH6):c.5690A>G (p.Lys1897Arg)
|
rs765849175
|
0.00005
|
|
NM_002471.4(MYH6):c.611G>A (p.Arg204His)
|
rs200623022
|
0.00005
|
|
NM_003476.5(CSRP3):c.136A>C (p.Ser46Arg)
|
rs137852765
|
0.00005
|
|
NM_003476.5(CSRP3):c.535A>G (p.Thr179Ala)
|
rs397516859
|
0.00005
|
|
NM_003673.4(TCAP):c.113G>T (p.Cys38Phe)
|
rs375310569
|
0.00005
|
|
NM_003803.4(MYOM1):c.1051C>T (p.Arg351Trp)
|
rs375848036
|
0.00005
|
|
NM_003803.4(MYOM1):c.1222G>A (p.Asp408Asn)
|
rs138375140
|
0.00005
|
|
NM_003803.4(MYOM1):c.1438T>C (p.Tyr480His)
|
rs763945524
|
0.00005
|
|
NM_003803.4(MYOM1):c.1714A>G (p.Thr572Ala)
|
rs370992051
|
0.00005
|
|
NM_003803.4(MYOM1):c.2054G>A (p.Arg685Gln)
|
rs371246473
|
0.00005
|
|
NM_003803.4(MYOM1):c.2581G>A (p.Val861Met)
|
rs537504476
|
0.00005
|
|
NM_003803.4(MYOM1):c.2918G>A (p.Arg973His)
|
rs763991578
|
0.00005
|
|
NM_003803.4(MYOM1):c.3278C>T (p.Ala1093Val)
|
rs749676865
|
0.00005
|
|
NM_003803.4(MYOM1):c.626C>T (p.Thr209Met)
|
rs374540941
|
0.00005
|
|
NM_004453.4(ETFDH):c.831+4T>C
|
rs752971257
|
0.00005
|
|
NM_004453.4(ETFDH):c.841A>G (p.Ile281Val)
|
rs761854400
|
0.00005
|
|
NM_004517.4(ILK):c.580A>G (p.Asn194Asp)
|
rs761882549
|
0.00005
|
|
NM_005343.4(HRAS):c.508A>T (p.Lys170Ter)
|
rs372936166
|
0.00005
|
|
NM_006073.4(TRDN):c.1276A>C (p.Thr426Pro)
|
rs1040336692
|
0.00005
|
|
NM_006073.4(TRDN):c.1361T>C (p.Val454Ala)
|
rs745960330
|
0.00005
|
|
NM_006073.4(TRDN):c.1471+5T>C
|
rs374426512
|
0.00005
|
|
NM_006073.4(TRDN):c.224A>T (p.Asn75Ile)
|
rs368939536
|
0.00005
|
|
NM_006073.4(TRDN):c.484+6C>G
|
rs115773202
|
0.00005
|
|
NM_006073.4(TRDN):c.52G>C (p.Asp18His)
|
rs372554839
|
0.00005
|
|
NM_006393.3(NEBL):c.1117-3C>T
|
rs376080967
|
0.00005
|
|
NM_006393.3(NEBL):c.2092A>G (p.Ile698Val)
|
rs565742208
|
0.00005
|
|
NM_006393.3(NEBL):c.259-2A>T
|
rs904604682
|
0.00005
|
|
NM_006440.5(TXNRD2):c.1348-2A>G
|
rs768600057
|
0.00005
|
|
NM_006440.5(TXNRD2):c.1413C>T (p.Gly471=)
|
rs753841469
|
0.00005
|
|
NM_006440.5(TXNRD2):c.235C>T (p.Arg79Trp)
|
rs762060966
|
0.00005
|
|
NM_006440.5(TXNRD2):c.850G>C (p.Val284Leu)
|
rs201177571
|
0.00005
|
|
NM_006440.5(TXNRD2):c.917C>T (p.Thr306Met)
|
rs371153395
|
0.00005
|
|
NM_006939.4(SOS2):c.244A>G (p.Ile82Val)
|
rs545263131
|
0.00005
|
|
NM_006939.4(SOS2):c.2606T>C (p.Val869Ala)
|
rs750095346
|
0.00005
|
|
NM_012082.4(ZFPM2):c.444G>C (p.Met148Ile)
|
rs373855468
|
0.00005
|
|
NM_013266.4(CTNNA3):c.1739C>T (p.Pro580Leu)
|
rs368000502
|
0.00005
|
|
NM_013266.4(CTNNA3):c.377G>A (p.Arg126His)
|
rs730880071
|
0.00005
|
|
NM_013266.4(CTNNA3):c.644C>T (p.Ser215Phe)
|
rs146441824
|
0.00005
|
|
NM_014000.3(VCL):c.1205C>T (p.Pro402Leu)
|
rs766393966
|
0.00005
|
|
NM_014000.3(VCL):c.1287T>A (p.Asp429Glu)
|
rs139371702
|
0.00005
|
|
NM_014000.3(VCL):c.1583G>A (p.Arg528His)
|
rs746095066
|
0.00005
|
|
NM_014000.3(VCL):c.2273G>A (p.Arg758His)
|
rs371970354
|
0.00005
|
|
NM_014476.6(PDLIM3):c.1024G>A (p.Glu342Lys)
|
rs368815493
|
0.00005
|
|
NM_014476.6(PDLIM3):c.530A>C (p.Glu177Ala)
|
rs138115202
|
0.00005
|
|
NM_014908.4(DOLK):c.1067G>A (p.Arg356Gln)
|
rs199535796
|
0.00005
|
|
NM_014908.4(DOLK):c.1166G>A (p.Arg389Gln)
|
rs201984428
|
0.00005
|
|
NM_014908.4(DOLK):c.1431G>A (p.Met477Ile)
|
rs754150966
|
0.00005
|
|
NM_014908.4(DOLK):c.434G>C (p.Gly145Ala)
|
rs377064301
|
0.00005
|
|
NM_014908.4(DOLK):c.876C>G (p.Phe292Leu)
|
rs147342916
|
0.00005
|
|
NM_015374.3(SUN2):c.2002G>A (p.Asp668Asn)
|
rs549404842
|
0.00005
|
|
NM_015374.3(SUN2):c.8G>A (p.Arg3Gln)
|
rs764750687
|
0.00005
|
|
NM_016203.4(PRKAG2):c.1114G>A (p.Asp372Asn)
|
rs760826751
|
0.00005
|
|
NM_016203.4(PRKAG2):c.1679-3C>T
|
rs371543989
|
0.00005
|
|
NM_016203.4(PRKAG2):c.593C>T (p.Pro198Leu)
|
rs41317142
|
0.00005
|
|
NM_020297.4(ABCC9):c.1051G>T (p.Ala351Ser)
|
rs375758521
|
0.00005
|
|
NM_020297.4(ABCC9):c.215G>A (p.Arg72Lys)
|
rs369409311
|
0.00005
|
|
NM_020297.4(ABCC9):c.35C>T (p.Ser12Leu)
|
rs766371743
|
0.00005
|
|
NM_020297.4(ABCC9):c.4512+777G>A
|
rs542730918
|
0.00005
|
|
NM_020297.4(ABCC9):c.4512+784A>G
|
rs148547035
|
0.00005
|
|
NM_020433.5(JPH2):c.1420G>A (p.Glu474Lys)
|
rs1033476644
|
0.00005
|
|
NM_020433.5(JPH2):c.1894G>A (p.Glu632Lys)
|
rs200149713
|
0.00005
|
|
NM_021167.5(GATAD1):c.578C>G (p.Ser193Cys)
|
rs780188711
|
0.00005
|
|
NM_021167.5(GATAD1):c.721C>T (p.Pro241Ser)
|
rs779832718
|
0.00005
|
|
NM_022114.4(PRDM16):c.1358C>T (p.Pro453Leu)
|
rs1202650948
|
0.00005
|
|
NM_022114.4(PRDM16):c.1517C>T (p.Thr506Met)
|
rs368543415
|
0.00005
|
|
NM_022114.4(PRDM16):c.1555C>T (p.Pro519Ser)
|
rs758737732
|
0.00005
|
|
NM_022114.4(PRDM16):c.1796C>T (p.Ser599Leu)
|
rs367734333
|
0.00005
|
|
NM_022114.4(PRDM16):c.1961C>T (p.Ala654Val)
|
rs771684634
|
0.00005
|
|
NM_022114.4(PRDM16):c.2275C>T (p.Arg759Trp)
|
rs752903093
|
0.00005
|
|
NM_022114.4(PRDM16):c.3103G>A (p.Ala1035Thr)
|
rs765394108
|
0.00005
|
|
NM_022114.4(PRDM16):c.3442G>A (p.Glu1148Lys)
|
rs746465588
|
0.00005
|
|
NM_022114.4(PRDM16):c.3761T>C (p.Leu1254Pro)
|
rs367785185
|
0.00005
|
|
NM_024334.3(TMEM43):c.679C>G (p.His227Asp)
|
rs201460674
|
0.00005
|
|
NM_024422.6(DSC2):c.1069C>T (p.Arg357Cys)
|
rs879255385
|
0.00005
|
|
NM_024422.6(DSC2):c.835C>T (p.Arg279Cys)
|
rs193922708
|
0.00005
|
|
NM_032578.4(MYPN):c.1858A>G (p.Thr620Ala)
|
rs144031245
|
0.00005
|
|
NM_033118.4(MYLK2):c.1123G>A (p.Asp375Asn)
|
rs397517472
|
0.00005
|
|
NM_033118.4(MYLK2):c.227C>T (p.Pro76Leu)
|
rs775335331
|
0.00005
|
|
NM_033118.4(MYLK2):c.50C>A (p.Thr17Lys)
|
rs192056427
|
0.00005
|
|
NM_144573.4(NEXN):c.1088C>G (p.Thr363Arg)
|
rs748351352
|
0.00005
|
|
NM_145046.5(CALR3):c.217C>G (p.Arg73Gly)
|
rs199561391
|
0.00005
|
|
NM_152594.3(SPRED1):c.1006G>A (p.Val336Ile)
|
rs373477920
|
0.00005
|
|
NM_181703.4(GJA5):c.199G>A (p.Asp67Asn)
|
rs150906806
|
0.00005
|
|
NM_182914.3(SYNE2):c.10867-3T>C
|
rs764840139
|
0.00005
|
|
NM_182914.3(SYNE2):c.13000C>G (p.Gln4334Glu)
|
rs374108464
|
0.00005
|
|
NM_182914.3(SYNE2):c.13423G>A (p.Val4475Ile)
|
rs200498250
|
0.00005
|
|
NM_182914.3(SYNE2):c.15307-3T>C
|
rs781158552
|
0.00005
|
|
NM_182914.3(SYNE2):c.15667T>A (p.Ser5223Thr)
|
rs150361559
|
0.00005
|
|
NM_182914.3(SYNE2):c.18265G>A (p.Val6089Ile)
|
rs759251568
|
0.00005
|
|
NM_182914.3(SYNE2):c.19657+6G>A
|
rs202159156
|
0.00005
|
|
NM_182914.3(SYNE2):c.20177G>A (p.Arg6726Gln)
|
rs200847772
|
0.00005
|
|
NM_182914.3(SYNE2):c.20413G>A (p.Glu6805Lys)
|
rs199923651
|
0.00005
|
|
NM_182914.3(SYNE2):c.2194C>A (p.Gln732Lys)
|
rs758897129
|
0.00005
|
|
NM_182914.3(SYNE2):c.2940+6A>G
|
rs371534076
|
0.00005
|
|
NM_182914.3(SYNE2):c.3755T>C (p.Ile1252Thr)
|
rs767383909
|
0.00005
|
|
NM_182914.3(SYNE2):c.3971C>T (p.Ala1324Val)
|
rs778039158
|
0.00005
|
|
NM_182914.3(SYNE2):c.3989C>T (p.Ala1330Val)
|
rs762901807
|
0.00005
|
|
NM_182914.3(SYNE2):c.6685C>G (p.Leu2229Val)
|
rs375543783
|
0.00005
|
|
NM_182914.3(SYNE2):c.7223A>T (p.Asp2408Val)
|
rs550374867
|
0.00005
|
|
NM_182961.4(SYNE1):c.10048A>G (p.Asn3350Asp)
|
rs145117891
|
0.00005
|
|
NM_182961.4(SYNE1):c.10443+5G>A
|
rs557835636
|
0.00005
|
|
NM_182961.4(SYNE1):c.11668G>A (p.Val3890Ile)
|
rs760680769
|
0.00005
|
|
NM_182961.4(SYNE1):c.118C>T (p.His40Tyr)
|
rs141719907
|
0.00005
|
|
NM_182961.4(SYNE1):c.12142T>G (p.Cys4048Gly)
|
rs377526133
|
0.00005
|
|
NM_182961.4(SYNE1):c.12958C>T (p.His4320Tyr)
|
rs775930653
|
0.00005
|
|
NM_182961.4(SYNE1):c.13718A>C (p.Lys4573Thr)
|
rs368653411
|
0.00005
|
|
NM_182961.4(SYNE1):c.16094C>T (p.Thr5365Ile)
|
rs1273141730
|
0.00005
|
|
NM_182961.4(SYNE1):c.16568A>G (p.Asn5523Ser)
|
rs773901491
|
0.00005
|
|
NM_182961.4(SYNE1):c.16928A>G (p.Lys5643Arg)
|
rs144714939
|
0.00005
|
|
NM_182961.4(SYNE1):c.17576C>T (p.Pro5859Leu)
|
rs769058871
|
0.00005
|
|
NM_182961.4(SYNE1):c.17848G>C (p.Val5950Leu)
|
rs200589166
|
0.00005
|
|
NM_182961.4(SYNE1):c.18727G>A (p.Glu6243Lys)
|
rs200360218
|
0.00005
|
|
NM_182961.4(SYNE1):c.19111G>A (p.Gly6371Arg)
|
rs572189966
|
0.00005
|
|
NM_182961.4(SYNE1):c.19729C>T (p.Arg6577Trp)
|
rs368534747
|
0.00005
|
|
NM_182961.4(SYNE1):c.19849G>A (p.Val6617Met)
|
rs184210675
|
0.00005
|
|
NM_182961.4(SYNE1):c.20069C>T (p.Thr6690Met)
|
rs143674856
|
0.00005
|
|
NM_182961.4(SYNE1):c.20738G>A (p.Arg6913His)
|
rs760706012
|
0.00005
|
|
NM_182961.4(SYNE1):c.20960G>A (p.Ser6987Asn)
|
rs779301586
|
0.00005
|
|
NM_182961.4(SYNE1):c.21322G>A (p.Gly7108Ser)
|
rs777227521
|
0.00005
|
|
NM_182961.4(SYNE1):c.21502G>A (p.Val7168Ile)
|
rs760451139
|
0.00005
|
|
NM_182961.4(SYNE1):c.2174C>T (p.Thr725Met)
|
rs374866393
|
0.00005
|
|
NM_182961.4(SYNE1):c.22519C>T (p.Arg7507Cys)
|
rs141278167
|
0.00005
|
|
NM_182961.4(SYNE1):c.23168G>A (p.Ser7723Asn)
|
rs146280967
|
0.00005
|
|
NM_182961.4(SYNE1):c.24301C>T (p.Arg8101Cys)
|
rs772622270
|
0.00005
|
|
NM_182961.4(SYNE1):c.24634C>T (p.Arg8212Cys)
|
rs139885317
|
0.00005
|
|
NM_182961.4(SYNE1):c.24862G>A (p.Asp8288Asn)
|
rs748216902
|
0.00005
|
|
NM_182961.4(SYNE1):c.25907A>G (p.His8636Arg)
|
rs759004104
|
0.00005
|
|
NM_182961.4(SYNE1):c.26093C>T (p.Thr8698Met)
|
rs139560053
|
0.00005
|
|
NM_182961.4(SYNE1):c.2818G>A (p.Glu940Lys)
|
rs757479164
|
0.00005
|
|
NM_182961.4(SYNE1):c.3269T>G (p.Val1090Gly)
|
rs539464964
|
0.00005
|
|
NM_182961.4(SYNE1):c.4000C>T (p.Arg1334Cys)
|
rs754120599
|
0.00005
|
|
NM_182961.4(SYNE1):c.7523A>T (p.Gln2508Leu)
|
rs201127061
|
0.00005
|
|
NM_182961.4(SYNE1):c.7775G>T (p.Gly2592Val)
|
rs528549317
|
0.00005
|
|
NM_182961.4(SYNE1):c.8222G>A (p.Arg2741Lys)
|
rs181218387
|
0.00005
|
|
NM_182961.4(SYNE1):c.9371T>C (p.Met3124Thr)
|
rs756079906
|
0.00005
|
|
NM_000018.4(ACADVL):c.109C>T (p.Arg37Trp)
|
rs536992268
|
0.00004
|
|
NM_000018.4(ACADVL):c.138G>A (p.Gln46=)
|
rs775956800
|
0.00004
|
|
NM_000018.4(ACADVL):c.1592G>A (p.Arg531Gln)
|
rs772763960
|
0.00004
|
|
NM_000018.4(ACADVL):c.1849G>A (p.Gly617Ser)
|
rs752227163
|
0.00004
|
|
NM_000018.4(ACADVL):c.352G>A (p.Asp118Asn)
|
rs543878973
|
0.00004
|
|
NM_000023.4(SGCA):c.466C>T (p.Arg156Cys)
|
rs538696245
|
0.00004
|
|
NM_000023.4(SGCA):c.467G>A (p.Arg156His)
|
rs558473298
|
0.00004
|
|
NM_000023.4(SGCA):c.582A>C (p.Glu194Asp)
|
rs199791980
|
0.00004
|
|
NM_000023.4(SGCA):c.869C>T (p.Ala290Val)
|
rs373312721
|
0.00004
|
|
NM_000117.3(EMD):c.608G>A (p.Arg203His)
|
rs144842093
|
0.00004
|
|
NM_000126.4(ETFA):c.170G>C (p.Gly57Ala)
|
rs146299082
|
0.00004
|
|
NM_000126.4(ETFA):c.541G>A (p.Gly181Ser)
|
rs374127169
|
0.00004
|
|
NM_000126.4(ETFA):c.557A>G (p.Glu186Gly)
|
rs986861899
|
0.00004
|
|
NM_000152.5(GAA):c.1198G>A (p.Val400Ile)
|
rs758334520
|
0.00004
|
|
NM_000152.5(GAA):c.11G>A (p.Arg4Lys)
|
rs372147077
|
0.00004
|
|
NM_000152.5(GAA):c.1828G>A (p.Ala610Thr)
|
rs144731405
|
0.00004
|
|
NM_000152.5(GAA):c.196C>T (p.Arg66Trp)
|
rs371971763
|
0.00004
|
|
NM_000152.5(GAA):c.2330C>T (p.Thr777Met)
|
rs746779016
|
0.00004
|
|
NM_000152.5(GAA):c.2331G>A (p.Thr777=)
|
rs375311693
|
0.00004
|
|
NM_000152.5(GAA):c.2423C>T (p.Pro808Leu)
|
rs773498009
|
0.00004
|
|
NM_000152.5(GAA):c.502C>T (p.Arg168Trp)
|
rs777473001
|
0.00004
|
|
NM_000152.5(GAA):c.643G>A (p.Glu215Lys)
|
rs201286896
|
0.00004
|
|
NM_000182.5(HADHA):c.1003G>A (p.Glu335Lys)
|
rs769821069
|
0.00004
|
|
NM_000182.5(HADHA):c.1753G>A (p.Ala585Thr)
|
rs753722938
|
0.00004
|
|
NM_000182.5(HADHA):c.316A>G (p.Met106Val)
|
rs143122454
|
0.00004
|
|
NM_000182.5(HADHA):c.323C>A (p.Ala108Asp)
|
rs762296285
|
0.00004
|
|
NM_000182.5(HADHA):c.896C>A (p.Pro299His)
|
rs905722226
|
0.00004
|
|
NM_000231.3(SGCG):c.270G>T (p.Leu90Phe)
|
rs368524463
|
0.00004
|
|
NM_000231.3(SGCG):c.371G>T (p.Gly124Val)
|
rs183204936
|
0.00004
|
|
NM_000231.3(SGCG):c.439G>A (p.Gly147Ser)
|
rs374836520
|
0.00004
|
|
NM_000231.3(SGCG):c.670A>G (p.Met224Val)
|
rs372188878
|
0.00004
|
|
NM_000231.3(SGCG):c.784T>C (p.Tyr262His)
|
rs776357413
|
0.00004
|
|
NM_000231.3(SGCG):c.808G>A (p.Gly270Arg)
|
rs767191084
|
0.00004
|
|
NM_000232.5(SGCB):c.137C>T (p.Pro46Leu)
|
rs148525453
|
0.00004
|
|
NM_000232.5(SGCB):c.715A>G (p.Ile239Val)
|
rs868151547
|
0.00004
|
|
NM_000232.5(SGCB):c.838G>A (p.Gly280Ser)
|
rs879945095
|
0.00004
|
|
NM_000256.3(MYBPC3):c.104G>A (p.Arg35Gln)
|
rs397515885
|
0.00004
|
|
NM_000256.3(MYBPC3):c.107C>A (p.Ala36Glu)
|
rs376646845
|
0.00004
|
|
NM_000256.3(MYBPC3):c.1091C>T (p.Ala364Val)
|
rs778161908
|
0.00004
|
|
NM_000256.3(MYBPC3):c.118G>A (p.Val40Met)
|
rs780085131
|
0.00004
|
|
NM_000256.3(MYBPC3):c.1256G>A (p.Arg419His)
|
rs770030288
|
0.00004
|
|
NM_000256.3(MYBPC3):c.1294G>A (p.Ala432Thr)
|
rs371167525
|
0.00004
|
|
NM_000256.3(MYBPC3):c.131G>A (p.Arg44His)
|
rs369205562
|
0.00004
|
|
NM_000256.3(MYBPC3):c.1604T>C (p.Leu535Pro)
|
rs730880548
|
0.00004
|
|
NM_000256.3(MYBPC3):c.2056G>C (p.Ala686Pro)
|
rs367992212
|
0.00004
|
|
NM_000256.3(MYBPC3):c.2177G>A (p.Arg726His)
|
rs397515953
|
0.00004
|
|
NM_000256.3(MYBPC3):c.2179G>A (p.Val727Met)
|
rs564378953
|
0.00004
|
|
NM_000256.3(MYBPC3):c.2200A>G (p.Ser734Gly)
|
rs747081382
|
0.00004
|
|
NM_000256.3(MYBPC3):c.2380C>A (p.Pro794Thr)
|
rs1164995671
|
0.00004
|
|
NM_000256.3(MYBPC3):c.2552C>T (p.Ala851Val)
|
rs774172488
|
0.00004
|
|
NM_000256.3(MYBPC3):c.2560A>G (p.Met854Val)
|
rs373171036
|
0.00004
|
|
NM_000256.3(MYBPC3):c.2783C>T (p.Ser928Leu)
|
rs773819168
|
0.00004
|
|
NM_000256.3(MYBPC3):c.2807C>T (p.Thr936Met)
|
rs374946555
|
0.00004
|
|
NM_000256.3(MYBPC3):c.2939G>A (p.Arg980His)
|
rs727503179
|
0.00004
|
|
NM_000256.3(MYBPC3):c.3005G>A (p.Arg1002Gln)
|
rs727504235
|
0.00004
|
|
NM_000256.3(MYBPC3):c.3052G>C (p.Glu1018Gln)
|
rs372003333
|
0.00004
|
|
NM_000256.3(MYBPC3):c.3218G>A (p.Arg1073Gln)
|
rs376598916
|
0.00004
|
|
NM_000256.3(MYBPC3):c.3452C>T (p.Ala1151Val)
|
rs779884363
|
0.00004
|
|
NM_000256.3(MYBPC3):c.3580G>A (p.Ala1194Thr)
|
rs397516026
|
0.00004
|
|
NM_000256.3(MYBPC3):c.3614G>A (p.Arg1205Gln)
|
rs730880596
|
0.00004
|
|
NM_000256.3(MYBPC3):c.3676C>T (p.Arg1226Cys)
|
rs397516033
|
0.00004
|
|
NM_000256.3(MYBPC3):c.3800G>A (p.Arg1267His)
|
rs730880142
|
0.00004
|
|
NM_000256.3(MYBPC3):c.479G>A (p.Arg160Gln)
|
rs730880617
|
0.00004
|
|
NM_000256.3(MYBPC3):c.787G>A (p.Gly263Arg)
|
rs373730381
|
0.00004
|
|
NM_000256.3(MYBPC3):c.799C>G (p.Leu267Val)
|
rs370941975
|
0.00004
|
|
NM_000256.3(MYBPC3):c.842G>A (p.Arg281Gln)
|
rs11570060
|
0.00004
|
|
NM_000256.3(MYBPC3):c.956A>C (p.Glu319Ala)
|
rs545675333
|
0.00004
|
|
NM_000257.4(MYH7):c.1405G>A (p.Asp469Asn)
|
rs397516106
|
0.00004
|
|
NM_000257.4(MYH7):c.211G>A (p.Val71Met)
|
rs730880830
|
0.00004
|
|
NM_000257.4(MYH7):c.2425G>T (p.Asp809Tyr)
|
rs397516147
|
0.00004
|
|
NM_000257.4(MYH7):c.2585C>T (p.Ala862Val)
|
rs149576470
|
0.00004
|
|
NM_000257.4(MYH7):c.2822G>A (p.Arg941His)
|
rs765458590
|
0.00004
|
|
NM_000257.4(MYH7):c.3125A>G (p.Lys1042Arg)
|
rs991485633
|
0.00004
|
|
NM_000257.4(MYH7):c.3168G>C (p.Glu1056Asp)
|
rs747198710
|
0.00004
|
|
NM_000257.4(MYH7):c.3974C>T (p.Ala1325Val)
|
rs768393069
|
0.00004
|
|
NM_000257.4(MYH7):c.4097C>T (p.Ser1366Leu)
|
rs767000995
|
0.00004
|
|
NM_000257.4(MYH7):c.4721G>A (p.Arg1574Gln)
|
rs779715863
|
0.00004
|
|
NM_000257.4(MYH7):c.4772T>A (p.Leu1591Gln)
|
rs730880808
|
0.00004
|
|
NM_000257.4(MYH7):c.4904T>C (p.Met1635Thr)
|
rs145822086
|
0.00004
|
|
NM_000257.4(MYH7):c.4954G>T (p.Asp1652Tyr)
|
rs397516233
|
0.00004
|
|
NM_000257.4(MYH7):c.5305C>A (p.Leu1769Met)
|
rs139222507
|
0.00004
|
|
NM_000257.4(MYH7):c.5495G>A (p.Arg1832His)
|
rs730880820
|
0.00004
|
|
NM_000257.4(MYH7):c.5507C>T (p.Ser1836Leu)
|
rs727503242
|
0.00004
|
|
NM_000258.3(MYL3):c.367A>G (p.Lys123Glu)
|
rs536445081
|
0.00004
|
|
NM_000258.3(MYL3):c.460C>T (p.Arg154Cys)
|
rs143852164
|
0.00004
|
|
NM_000258.3(MYL3):c.476C>T (p.Thr159Met)
|
rs748832105
|
0.00004
|
|
NM_000258.3(MYL3):c.481+5G>A
|
rs1005891266
|
0.00004
|
|
NM_000337.6(SGCD):c.292C>T (p.Pro98Ser)
|
rs1437006739
|
0.00004
|
|
NM_000337.6(SGCD):c.511G>A (p.Gly171Ser)
|
rs764237334
|
0.00004
|
|
NM_000363.5(TNNI3):c.236G>T (p.Arg79Leu)
|
rs397516342
|
0.00004
|
|
NM_000363.5(TNNI3):c.282+5C>G
|
rs770260866
|
0.00004
|
|
NM_000363.5(TNNI3):c.293G>A (p.Arg98Gln)
|
rs747522089
|
0.00004
|
|
NM_000363.5(TNNI3):c.308G>A (p.Arg103His)
|
rs371000425
|
0.00004
|
|
NM_000363.5(TNNI3):c.373-11T>A
|
rs746918706
|
0.00004
|
|
NM_000363.5(TNNI3):c.556C>T (p.Arg186Trp)
|
rs760978512
|
0.00004
|
|
NM_000371.4(TTR):c.361G>A (p.Gly121Ser)
|
rs755337715
|
0.00004
|
|
NM_000371.4(TTR):c.386C>T (p.Ala129Val)
|
rs121918092
|
0.00004
|
|
NM_000432.4(MYL2):c.274+8_274+9insAT
|
rs572538551
|
0.00004
|
|
NM_000432.4(MYL2):c.459G>C (p.Lys153Asn)
|
rs149078011
|
0.00004
|
|
NM_000432.4(MYL2):c.97T>C (p.Phe33Leu)
|
rs730880945
|
0.00004
|
|
NM_001005242.3(PKP2):c.1010G>A (p.Ser337Asn)
|
rs144401285
|
0.00004
|
|
NM_001005242.3(PKP2):c.1064G>A (p.Arg355Gln)
|
rs370868564
|
0.00004
|
|
NM_001005242.3(PKP2):c.1238G>A (p.Arg413Gln)
|
rs200715477
|
0.00004
|
|
NM_001005242.3(PKP2):c.1379-2022G>A
|
rs111450489
|
0.00004
|
|
NM_001005242.3(PKP2):c.1379-2102C>G
|
rs762631031
|
0.00004
|
|
NM_001005242.3(PKP2):c.1537A>G (p.Asn513Asp)
|
rs200343561
|
0.00004
|
|
NM_001005242.3(PKP2):c.1576G>A (p.Ala526Thr)
|
rs558637427
|
0.00004
|
|
NM_001005242.3(PKP2):c.1825A>G (p.Arg609Gly)
|
rs775103879
|
0.00004
|
|
NM_001005242.3(PKP2):c.1874G>C (p.Ser625Thr)
|
rs779926314
|
0.00004
|
|
NM_001005242.3(PKP2):c.1889T>C (p.Val630Ala)
|
rs751965920
|
0.00004
|
|
NM_001005242.3(PKP2):c.2002G>A (p.Gly668Arg)
|
rs200844640
|
0.00004
|
|
NM_001005242.3(PKP2):c.2090G>T (p.Gly697Val)
|
rs143503798
|
0.00004
|
|
NM_001005242.3(PKP2):c.2141G>A (p.Arg714Gln)
|
rs397517020
|
0.00004
|
|
NM_001005242.3(PKP2):c.2480G>A (p.Arg827Gln)
|
rs372263407
|
0.00004
|
|
NM_001005242.3(PKP2):c.2504T>C (p.Leu835Pro)
|
rs775572104
|
0.00004
|
|
NM_001005242.3(PKP2):c.364C>T (p.Arg122Cys)
|
rs759377911
|
0.00004
|
|
NM_001005242.3(PKP2):c.464G>C (p.Ser155Thr)
|
rs141438322
|
0.00004
|
|
NM_001005242.3(PKP2):c.548G>A (p.Ser183Asn)
|
rs373222905
|
0.00004
|
|
NM_001005242.3(PKP2):c.634C>T (p.Arg212Cys)
|
rs766379716
|
0.00004
|
|
NM_001005242.3(PKP2):c.950C>T (p.Ala317Val)
|
rs775318947
|
0.00004
|
|
NM_001035.3(RYR2):c.10640C>T (p.Thr3547Met)
|
rs552050895
|
0.00004
|
|
NM_001035.3(RYR2):c.11132T>A (p.Val3711Glu)
|
rs1036775644
|
0.00004
|
|
NM_001035.3(RYR2):c.12427A>C (p.Lys4143Gln)
|
rs750908017
|
0.00004
|
|
NM_001035.3(RYR2):c.1249C>G (p.Arg417Gly)
|
rs564822776
|
0.00004
|
|
NM_001035.3(RYR2):c.12541G>A (p.Gly4181Arg)
|
rs775477470
|
0.00004
|
|
NM_001035.3(RYR2):c.12944G>A (p.Gly4315Glu)
|
rs766109950
|
0.00004
|
|
NM_001035.3(RYR2):c.13249G>C (p.Glu4417Gln)
|
rs903232857
|
0.00004
|
|
NM_001035.3(RYR2):c.13254A>T (p.Lys4418Asn)
|
rs934659622
|
0.00004
|
|
NM_001035.3(RYR2):c.1358G>C (p.Ser453Thr)
|
rs761911597
|
0.00004
|
|
NM_001035.3(RYR2):c.147G>C (p.Leu49Phe)
|
rs727504508
|
0.00004
|
|
NM_001035.3(RYR2):c.1838T>C (p.Val613Ala)
|
rs1057512489
|
0.00004
|
|
NM_001035.3(RYR2):c.2521A>G (p.Lys841Glu)
|
rs563091152
|
0.00004
|
|
NM_001035.3(RYR2):c.3025C>T (p.Arg1009Trp)
|
rs368040638
|
0.00004
|
|
NM_001035.3(RYR2):c.309G>A (p.Lys103=)
|
rs532274202
|
0.00004
|
|
NM_001035.3(RYR2):c.3481G>C (p.Val1161Leu)
|
rs372761438
|
0.00004
|
|
NM_001035.3(RYR2):c.3971G>C (p.Gly1324Ala)
|
rs773678614
|
0.00004
|
|
NM_001035.3(RYR2):c.4076T>C (p.Val1359Ala)
|
rs1005458283
|
0.00004
|
|
NM_001035.3(RYR2):c.4692G>A (p.Met1564Ile)
|
rs201675951
|
0.00004
|
|
NM_001035.3(RYR2):c.5494G>A (p.Gly1832Ser)
|
rs727504983
|
0.00004
|
|
NM_001035.3(RYR2):c.6299G>A (p.Arg2100Gln)
|
rs796202631
|
0.00004
|
|
NM_001035.3(RYR2):c.7076G>A (p.Arg2359Gln)
|
rs727504976
|
0.00004
|
|
NM_001035.3(RYR2):c.7201C>T (p.Arg2401Cys)
|
rs1321283106
|
0.00004
|
|
NM_001035.3(RYR2):c.7459C>A (p.Leu2487Ile)
|
rs748581317
|
0.00004
|
|
NM_001105206.3(LAMA4):c.1385G>A (p.Arg462Gln)
|
rs781977997
|
0.00004
|
|
NM_001105206.3(LAMA4):c.1423C>G (p.Leu475Val)
|
rs373612803
|
0.00004
|
|
NM_001105206.3(LAMA4):c.1503T>A (p.Asp501Glu)
|
rs370194991
|
0.00004
|
|
NM_001105206.3(LAMA4):c.1769C>G (p.Ala590Gly)
|
rs782394010
|
0.00004
|
|
NM_001105206.3(LAMA4):c.1843G>A (p.Gly615Arg)
|
rs377499201
|
0.00004
|
|
NM_001105206.3(LAMA4):c.2143G>T (p.Ala715Ser)
|
rs140710429
|
0.00004
|
|
NM_001105206.3(LAMA4):c.2402C>T (p.Thr801Met)
|
rs782325644
|
0.00004
|
|
NM_001105206.3(LAMA4):c.3437A>G (p.Asp1146Gly)
|
rs781842093
|
0.00004
|
|
NM_001105206.3(LAMA4):c.3518T>C (p.Ile1173Thr)
|
rs373416378
|
0.00004
|
|
NM_001105206.3(LAMA4):c.3563T>G (p.Leu1188Arg)
|
rs782291756
|
0.00004
|
|
NM_001105206.3(LAMA4):c.412C>T (p.His138Tyr)
|
rs727503113
|
0.00004
|
|
NM_001105206.3(LAMA4):c.4287+4A>G
|
rs782528136
|
0.00004
|
|
NM_001105206.3(LAMA4):c.4346G>A (p.Arg1449Gln)
|
rs782695193
|
0.00004
|
|
NM_001105206.3(LAMA4):c.5005A>G (p.Lys1669Glu)
|
rs782716382
|
0.00004
|
|
NM_001105206.3(LAMA4):c.667C>T (p.Arg223Cys)
|
rs372074151
|
0.00004
|
|
NM_001105206.3(LAMA4):c.718+6G>T
|
rs782180015
|
0.00004
|
|
NM_001105206.3(LAMA4):c.838C>A (p.Leu280Met)
|
rs369332778
|
0.00004
|
|
NM_001122630.2(CDKN1C):c.-10-7T>C
|
rs201715947
|
0.00004
|
|
NM_001122630.2(CDKN1C):c.316C>T (p.Pro106Ser)
|
rs570636789
|
0.00004
|
|
NM_001122630.2(CDKN1C):c.395C>T (p.Ala132Val)
|
rs896475967
|
0.00004
|
|
NM_001130965.3(SUN1):c.1210G>A (p.Ala404Thr)
|
rs757340477
|
0.00004
|
|
NM_001130965.3(SUN1):c.1372C>G (p.Gln458Glu)
|
rs547404802
|
0.00004
|
|
NM_001130965.3(SUN1):c.1390A>G (p.Ile464Val)
|
rs199915497
|
0.00004
|
|
NM_001130965.3(SUN1):c.1923G>A (p.Met641Ile)
|
rs750658890
|
0.00004
|
|
NM_001130965.3(SUN1):c.220G>A (p.Asp74Asn)
|
rs374767640
|
0.00004
|
|
NM_001130965.3(SUN1):c.2227A>G (p.Met743Val)
|
rs368333285
|
0.00004
|
|
NM_001130965.3(SUN1):c.389G>A (p.Arg130Gln)
|
rs781471011
|
0.00004
|
|
NM_001134363.3(RBM20):c.2688G>T (p.Glu896Asp)
|
rs950962230
|
0.00004
|
|
NM_001161403.3(LIMS2):c.121T>C (p.Phe41Leu)
|
rs372067171
|
0.00004
|
|
NM_001161403.3(LIMS2):c.20C>T (p.Ser7Leu)
|
rs369093987
|
0.00004
|
|
NM_001161403.3(LIMS2):c.290C>T (p.Pro97Leu)
|
rs768056213
|
0.00004
|
|
NM_001161403.3(LIMS2):c.331G>C (p.Asp111His)
|
rs371008915
|
0.00004
|
|
NM_001161403.3(LIMS2):c.370C>T (p.Arg124Trp)
|
rs369430789
|
0.00004
|
|
NM_001161403.3(LIMS2):c.424C>T (p.Arg142Trp)
|
rs780800196
|
0.00004
|
|
NM_001161403.3(LIMS2):c.49C>T (p.Arg17Cys)
|
rs760929162
|
0.00004
|
|
NM_001161403.3(LIMS2):c.622C>T (p.Arg208Ter)
|
rs146150045
|
0.00004
|
|
NM_001232.4(CASQ2):c.376G>C (p.Asp126His)
|
rs727502908
|
0.00004
|
|
NM_001232.4(CASQ2):c.751C>T (p.Arg251Cys)
|
rs781113955
|
0.00004
|
|
NM_001267550.2(TTN):c.100163G>A (p.Ser33388Asn)
|
rs745406517
|
0.00004
|
|
NM_001267550.2(TTN):c.100384G>A (p.Glu33462Lys)
|
rs748104690
|
0.00004
|
|
NM_001267550.2(TTN):c.100826G>A (p.Arg33609Gln)
|
rs771243505
|
0.00004
|
|
NM_001267550.2(TTN):c.101236C>T (p.Arg33746Cys)
|
rs199594729
|
0.00004
|
|
NM_001267550.2(TTN):c.10127C>T (p.Ser3376Leu)
|
rs781368765
|
0.00004
|
|
NM_001267550.2(TTN):c.101707C>T (p.Arg33903Cys)
|
rs772574722
|
0.00004
|
|
NM_001267550.2(TTN):c.101822G>C (p.Arg33941Thr)
|
rs762498249
|
0.00004
|
|
NM_001267550.2(TTN):c.101953G>C (p.Glu33985Gln)
|
rs534613934
|
0.00004
|
|
NM_001267550.2(TTN):c.102272G>A (p.Arg34091Gln)
|
rs763708375
|
0.00004
|
|
NM_001267550.2(TTN):c.102275G>A (p.Arg34092His)
|
rs757918924
|
0.00004
|
|
NM_001267550.2(TTN):c.102827G>A (p.Arg34276Gln)
|
rs199932621
|
0.00004
|
|
NM_001267550.2(TTN):c.103430T>C (p.Ile34477Thr)
|
rs751914956
|
0.00004
|
|
NM_001267550.2(TTN):c.103580T>C (p.Ile34527Thr)
|
rs370618537
|
0.00004
|
|
NM_001267550.2(TTN):c.103658T>C (p.Ile34553Thr)
|
rs727505196
|
0.00004
|
|
NM_001267550.2(TTN):c.104204C>T (p.Thr34735Met)
|
rs755986938
|
0.00004
|
|
NM_001267550.2(TTN):c.104333C>T (p.Thr34778Met)
|
rs762158917
|
0.00004
|
|
NM_001267550.2(TTN):c.104575C>T (p.Arg34859Trp)
|
rs879243057
|
0.00004
|
|
NM_001267550.2(TTN):c.104694A>C (p.Arg34898Ser)
|
rs755502219
|
0.00004
|
|
NM_001267550.2(TTN):c.104893G>C (p.Val34965Leu)
|
rs886042785
|
0.00004
|
|
NM_001267550.2(TTN):c.104978C>T (p.Thr34993Met)
|
rs368945564
|
0.00004
|
|
NM_001267550.2(TTN):c.105608T>C (p.Val35203Ala)
|
rs771136390
|
0.00004
|
|
NM_001267550.2(TTN):c.105719G>A (p.Arg35240Gln)
|
rs530537991
|
0.00004
|
|
NM_001267550.2(TTN):c.106385A>G (p.Gln35462Arg)
|
rs376392819
|
0.00004
|
|
NM_001267550.2(TTN):c.106531+6T>C
|
rs772189154
|
0.00004
|
|
NM_001267550.2(TTN):c.106927G>A (p.Val35643Ile)
|
rs754459138
|
0.00004
|
|
NM_001267550.2(TTN):c.106975G>A (p.Asp35659Asn)
|
rs878992336
|
0.00004
|
|
NM_001267550.2(TTN):c.107591T>C (p.Val35864Ala)
|
rs374859388
|
0.00004
|
|
NM_001267550.2(TTN):c.11843G>A (p.Arg3948His)
|
rs775618077
|
0.00004
|
|
NM_001267550.2(TTN):c.12845T>A (p.Ile4282Asn)
|
rs747907234
|
0.00004
|
|
NM_001267550.2(TTN):c.13829C>G (p.Thr4610Arg)
|
rs748210214
|
0.00004
|
|
NM_001267550.2(TTN):c.14189G>A (p.Arg4730Gln)
|
rs202017278
|
0.00004
|
|
NM_001267550.2(TTN):c.1447G>A (p.Ala483Thr)
|
rs34337578
|
0.00004
|
|
NM_001267550.2(TTN):c.15500C>T (p.Pro5167Leu)
|
rs730880237
|
0.00004
|
|
NM_001267550.2(TTN):c.15749C>T (p.Thr5250Ile)
|
rs759384825
|
0.00004
|
|
NM_001267550.2(TTN):c.15947C>T (p.Ala5316Val)
|
rs879242937
|
0.00004
|
|
NM_001267550.2(TTN):c.16010A>G (p.Asn5337Ser)
|
rs752924679
|
0.00004
|
|
NM_001267550.2(TTN):c.16118C>A (p.Thr5373Asn)
|
rs1057103177
|
0.00004
|
|
NM_001267550.2(TTN):c.1616T>A (p.Ile539Asn)
|
rs774503024
|
0.00004
|
|
NM_001267550.2(TTN):c.16310G>A (p.Ser5437Asn)
|
rs794727755
|
0.00004
|
|
NM_001267550.2(TTN):c.1640A>G (p.Gln547Arg)
|
rs774937703
|
0.00004
|
|
NM_001267550.2(TTN):c.16961T>G (p.Val5654Gly)
|
rs763581306
|
0.00004
|
|
NM_001267550.2(TTN):c.18037T>C (p.Tyr6013His)
|
rs548015673
|
0.00004
|
|
NM_001267550.2(TTN):c.18173G>A (p.Arg6058His)
|
rs376012117
|
0.00004
|
|
NM_001267550.2(TTN):c.18485C>T (p.Thr6162Ile)
|
rs367685188
|
0.00004
|
|
NM_001267550.2(TTN):c.18655G>A (p.Glu6219Lys)
|
rs72648948
|
0.00004
|
|
NM_001267550.2(TTN):c.20057G>A (p.Arg6686Gln)
|
rs202022304
|
0.00004
|
|
NM_001267550.2(TTN):c.21785C>G (p.Thr7262Ser)
|
rs200954184
|
0.00004
|
|
NM_001267550.2(TTN):c.22386T>A (p.Asp7462Glu)
|
rs183482849
|
0.00004
|
|
NM_001267550.2(TTN):c.22952A>G (p.Glu7651Gly)
|
rs1461872954
|
0.00004
|
|
NM_001267550.2(TTN):c.2358C>G (p.His786Gln)
|
rs199507913
|
0.00004
|
|
NM_001267550.2(TTN):c.2386G>A (p.Asp796Asn)
|
rs766935265
|
0.00004
|
|
NM_001267550.2(TTN):c.24344G>A (p.Ser8115Asn)
|
rs397517506
|
0.00004
|
|
NM_001267550.2(TTN):c.24769C>G (p.Leu8257Val)
|
rs371322658
|
0.00004
|
|
NM_001267550.2(TTN):c.28093C>T (p.Arg9365Trp)
|
rs190600127
|
0.00004
|
|
NM_001267550.2(TTN):c.28094G>A (p.Arg9365Gln)
|
rs570608843
|
0.00004
|
|
NM_001267550.2(TTN):c.29015C>T (p.Thr9672Ile)
|
rs769996978
|
0.00004
|
|
NM_001267550.2(TTN):c.29230C>T (p.Arg9744Cys)
|
rs375266859
|
0.00004
|
|
NM_001267550.2(TTN):c.29231G>A (p.Arg9744His)
|
rs760305440
|
0.00004
|
|
NM_001267550.2(TTN):c.30283G>A (p.Ala10095Thr)
|
rs201635835
|
0.00004
|
|
NM_001267550.2(TTN):c.30857T>C (p.Ile10286Thr)
|
rs369094355
|
0.00004
|
|
NM_001267550.2(TTN):c.30941T>C (p.Ile10314Thr)
|
rs886055288
|
0.00004
|
|
NM_001267550.2(TTN):c.31156G>A (p.Glu10386Lys)
|
rs772195716
|
0.00004
|
|
NM_001267550.2(TTN):c.31472T>C (p.Met10491Thr)
|
rs769226745
|
0.00004
|
|
NM_001267550.2(TTN):c.31821G>T (p.Lys10607Asn)
|
rs746722623
|
0.00004
|
|
NM_001267550.2(TTN):c.32194G>A (p.Glu10732Lys)
|
rs374348069
|
0.00004
|
|
NM_001267550.2(TTN):c.32735C>T (p.Pro10912Leu)
|
rs781655223
|
0.00004
|
|
NM_001267550.2(TTN):c.3319G>A (p.Gly1107Ser)
|
rs767741769
|
0.00004
|
|
NM_001267550.2(TTN):c.33826+4C>T
|
rs750851792
|
0.00004
|
|
NM_001267550.2(TTN):c.34027G>A (p.Val11343Ile)
|
rs369025108
|
0.00004
|
|
NM_001267550.2(TTN):c.34735C>T (p.Pro11579Ser)
|
rs754511830
|
0.00004
|
|
NM_001267550.2(TTN):c.34772C>T (p.Ala11591Val)
|
rs72650052
|
0.00004
|
|
NM_001267550.2(TTN):c.34786+3A>G
|
rs1417271874
|
0.00004
|
|
NM_001267550.2(TTN):c.34930+2T>C
|
rs749252830
|
0.00004
|
|
NM_001267550.2(TTN):c.34952A>C (p.Lys11651Thr)
|
rs373656002
|
0.00004
|
|
NM_001267550.2(TTN):c.35194G>A (p.Glu11732Lys)
|
rs939014361
|
0.00004
|
|
NM_001267550.2(TTN):c.35312C>T (p.Pro11771Leu)
|
rs373508919
|
0.00004
|
|
NM_001267550.2(TTN):c.36158C>T (p.Thr12053Met)
|
rs761169549
|
0.00004
|
|
NM_001267550.2(TTN):c.36253C>T (p.Gln12085Ter)
|
rs1384922524
|
0.00004
|
|
NM_001267550.2(TTN):c.36802C>G (p.Pro12268Ala)
|
rs1461810893
|
0.00004
|
|
NM_001267550.2(TTN):c.37496A>C (p.Lys12499Thr)
|
rs1367017667
|
0.00004
|
|
NM_001267550.2(TTN):c.38321T>C (p.Val12774Ala)
|
rs747414237
|
0.00004
|
|
NM_001267550.2(TTN):c.39235G>A (p.Val13079Ile)
|
rs777119867
|
0.00004
|
|
NM_001267550.2(TTN):c.39276G>A (p.Pro13092=)
|
rs369002632
|
0.00004
|
|
NM_001267550.2(TTN):c.39887C>G (p.Pro13296Arg)
|
rs760464072
|
0.00004
|
|
NM_001267550.2(TTN):c.40109T>C (p.Ile13370Thr)
|
rs904655100
|
0.00004
|
|
NM_001267550.2(TTN):c.40409-1G>A
|
rs1285884266
|
0.00004
|
|
NM_001267550.2(TTN):c.40636C>A (p.Pro13546Thr)
|
rs1393076582
|
0.00004
|
|
NM_001267550.2(TTN):c.41309C>T (p.Thr13770Met)
|
rs774214497
|
0.00004
|
|
NM_001267550.2(TTN):c.41744C>T (p.Ala13915Val)
|
rs371426048
|
0.00004
|
|
NM_001267550.2(TTN):c.41908C>T (p.Pro13970Ser)
|
rs189799340
|
0.00004
|
|
NM_001267550.2(TTN):c.4274C>T (p.Ala1425Val)
|
rs746063269
|
0.00004
|
|
NM_001267550.2(TTN):c.42851G>A (p.Arg14284His)
|
rs368572799
|
0.00004
|
|
NM_001267550.2(TTN):c.43019T>C (p.Ile14340Thr)
|
rs397517571
|
0.00004
|
|
NM_001267550.2(TTN):c.43045G>A (p.Gly14349Ser)
|
rs781452930
|
0.00004
|
|
NM_001267550.2(TTN):c.44435G>A (p.Arg14812His)
|
rs375574483
|
0.00004
|
|
NM_001267550.2(TTN):c.45128G>A (p.Ser15043Asn)
|
rs376144178
|
0.00004
|
|
NM_001267550.2(TTN):c.45212T>C (p.Ile15071Thr)
|
rs184078045
|
0.00004
|
|
NM_001267550.2(TTN):c.45652C>T (p.Arg15218Trp)
|
rs371621174
|
0.00004
|
|
NM_001267550.2(TTN):c.45760A>T (p.Ile15254Phe)
|
rs72677226
|
0.00004
|
|
NM_001267550.2(TTN):c.46037G>A (p.Arg15346His)
|
rs367996763
|
0.00004
|
|
NM_001267550.2(TTN):c.46363G>A (p.Asp15455Asn)
|
rs370813526
|
0.00004
|
|
NM_001267550.2(TTN):c.46591G>A (p.Gly15531Arg)
|
rs761815745
|
0.00004
|
|
NM_001267550.2(TTN):c.47089C>T (p.Arg15697Cys)
|
rs780334981
|
0.00004
|
|
NM_001267550.2(TTN):c.47698G>A (p.Glu15900Lys)
|
rs772625773
|
0.00004
|
|
NM_001267550.2(TTN):c.49698A>G (p.Thr16566=)
|
rs778112130
|
0.00004
|
|
NM_001267550.2(TTN):c.50954C>T (p.Thr16985Ile)
|
rs116765281
|
0.00004
|
|
NM_001267550.2(TTN):c.51175A>G (p.Ile17059Val)
|
rs188395969
|
0.00004
|
|
NM_001267550.2(TTN):c.5132C>T (p.Ser1711Phe)
|
rs397517641
|
0.00004
|
|
NM_001267550.2(TTN):c.51841T>C (p.Trp17281Arg)
|
rs368846015
|
0.00004
|
|
NM_001267550.2(TTN):c.5264A>G (p.Asn1755Ser)
|
rs201904897
|
0.00004
|
|
NM_001267550.2(TTN):c.53069T>C (p.Leu17690Pro)
|
rs370469461
|
0.00004
|
|
NM_001267550.2(TTN):c.53213A>T (p.Asp17738Val)
|
rs773447539
|
0.00004
|
|
NM_001267550.2(TTN):c.53561T>A (p.Ile17854Asn)
|
rs375796420
|
0.00004
|
|
NM_001267550.2(TTN):c.54091A>G (p.Ser18031Gly)
|
rs397517615
|
0.00004
|
|
NM_001267550.2(TTN):c.54115G>A (p.Asp18039Asn)
|
rs765148928
|
0.00004
|
|
NM_001267550.2(TTN):c.54813T>G (p.Phe18271Leu)
|
rs370583314
|
0.00004
|
|
NM_001267550.2(TTN):c.5582G>A (p.Arg1861His)
|
rs140914855
|
0.00004
|
|
NM_001267550.2(TTN):c.56534C>T (p.Thr18845Met)
|
rs371571153
|
0.00004
|
|
NM_001267550.2(TTN):c.56581G>A (p.Ala18861Thr)
|
rs368419410
|
0.00004
|
|
NM_001267550.2(TTN):c.56640C>A (p.Asn18880Lys)
|
rs200544272
|
0.00004
|
|
NM_001267550.2(TTN):c.56872G>A (p.Asp18958Asn)
|
rs576158850
|
0.00004
|
|
NM_001267550.2(TTN):c.56884C>T (p.Arg18962Trp)
|
rs556286196
|
0.00004
|
|
NM_001267550.2(TTN):c.58470T>A (p.Asp19490Glu)
|
rs374118468
|
0.00004
|
|
NM_001267550.2(TTN):c.58982G>A (p.Gly19661Asp)
|
rs397517640
|
0.00004
|
|
NM_001267550.2(TTN):c.60869T>C (p.Val20290Ala)
|
rs550655820
|
0.00004
|
|
NM_001267550.2(TTN):c.62479T>C (p.Ser20827Pro)
|
rs1001628726
|
0.00004
|
|
NM_001267550.2(TTN):c.62486T>G (p.Phe20829Cys)
|
rs878916429
|
0.00004
|
|
NM_001267550.2(TTN):c.62816G>A (p.Arg20939His)
|
rs777095470
|
0.00004
|
|
NM_001267550.2(TTN):c.63458T>C (p.Ile21153Thr)
|
rs772411127
|
0.00004
|
|
NM_001267550.2(TTN):c.63463C>T (p.Arg21155Cys)
|
rs374727686
|
0.00004
|
|
NM_001267550.2(TTN):c.64411C>T (p.Leu21471Phe)
|
rs774609456
|
0.00004
|
|
NM_001267550.2(TTN):c.64681G>A (p.Gly21561Ser)
|
rs200355808
|
0.00004
|
|
NM_001267550.2(TTN):c.65590G>C (p.Asp21864His)
|
rs375149365
|
0.00004
|
|
NM_001267550.2(TTN):c.65782C>T (p.Arg21928Trp)
|
rs371856109
|
0.00004
|
|
NM_001267550.2(TTN):c.65986C>T (p.Arg21996Cys)
|
rs577114038
|
0.00004
|
|
NM_001267550.2(TTN):c.66187G>C (p.Val22063Leu)
|
rs768057735
|
0.00004
|
|
NM_001267550.2(TTN):c.66568G>C (p.Gly22190Arg)
|
rs757537780
|
0.00004
|
|
NM_001267550.2(TTN):c.66778G>C (p.Glu22260Gln)
|
rs553988103
|
0.00004
|
|
NM_001267550.2(TTN):c.67147G>A (p.Gly22383Arg)
|
rs372388682
|
0.00004
|
|
NM_001267550.2(TTN):c.67210G>A (p.Val22404Met)
|
rs369257896
|
0.00004
|
|
NM_001267550.2(TTN):c.67882G>A (p.Val22628Ile)
|
rs775731759
|
0.00004
|
|
NM_001267550.2(TTN):c.68007G>A (p.Lys22669=)
|
rs755897447
|
0.00004
|
|
NM_001267550.2(TTN):c.68303A>G (p.Lys22768Arg)
|
rs761210578
|
0.00004
|
|
NM_001267550.2(TTN):c.68599T>C (p.Tyr22867His)
|
rs368484355
|
0.00004
|
|
NM_001267550.2(TTN):c.70424G>A (p.Arg23475His)
|
rs370257707
|
0.00004
|
|
NM_001267550.2(TTN):c.70570A>G (p.Thr23524Ala)
|
rs369526268
|
0.00004
|
|
NM_001267550.2(TTN):c.70748C>A (p.Thr23583Lys)
|
rs397517687
|
0.00004
|
|
NM_001267550.2(TTN):c.70831G>A (p.Ala23611Thr)
|
rs373765469
|
0.00004
|
|
NM_001267550.2(TTN):c.71399G>A (p.Arg23800His)
|
rs537705563
|
0.00004
|
|
NM_001267550.2(TTN):c.72488G>A (p.Arg24163His)
|
rs374712231
|
0.00004
|
|
NM_001267550.2(TTN):c.73148C>T (p.Ser24383Leu)
|
rs368415251
|
0.00004
|
|
NM_001267550.2(TTN):c.73292A>T (p.Asp24431Val)
|
rs754343858
|
0.00004
|
|
NM_001267550.2(TTN):c.73822G>A (p.Ala24608Thr)
|
rs750166986
|
0.00004
|
|
NM_001267550.2(TTN):c.74513G>C (p.Gly24838Ala)
|
rs200723435
|
0.00004
|
|
NM_001267550.2(TTN):c.75668C>T (p.Thr25223Ile)
|
rs370070176
|
0.00004
|
|
NM_001267550.2(TTN):c.75997G>A (p.Gly25333Ser)
|
rs757343393
|
0.00004
|
|
NM_001267550.2(TTN):c.7619G>A (p.Arg2540His)
|
rs397517725
|
0.00004
|
|
NM_001267550.2(TTN):c.76661C>G (p.Ala25554Gly)
|
rs879087699
|
0.00004
|
|
NM_001267550.2(TTN):c.77816A>C (p.Asp25939Ala)
|
rs397517712
|
0.00004
|
|
NM_001267550.2(TTN):c.7816G>A (p.Ala2606Thr)
|
rs375286376
|
0.00004
|
|
NM_001267550.2(TTN):c.79251G>C (p.Glu26417Asp)
|
rs369019463
|
0.00004
|
|
NM_001267550.2(TTN):c.79969G>T (p.Asp26657Tyr)
|
rs781076407
|
0.00004
|
|
NM_001267550.2(TTN):c.80446G>A (p.Val26816Ile)
|
rs774092000
|
0.00004
|
|
NM_001267550.2(TTN):c.80941C>T (p.Arg26981Trp)
|
rs779878975
|
0.00004
|
|
NM_001267550.2(TTN):c.80942G>A (p.Arg26981Gln)
|
rs768308408
|
0.00004
|
|
NM_001267550.2(TTN):c.81229G>A (p.Gly27077Arg)
|
rs878898668
|
0.00004
|
|
NM_001267550.2(TTN):c.81545T>A (p.Ile27182Asn)
|
rs373448447
|
0.00004
|
|
NM_001267550.2(TTN):c.82474C>T (p.Arg27492Cys)
|
rs767221784
|
0.00004
|
|
NM_001267550.2(TTN):c.82606G>A (p.Glu27536Lys)
|
rs745974517
|
0.00004
|
|
NM_001267550.2(TTN):c.83032G>A (p.Asp27678Asn)
|
rs781128731
|
0.00004
|
|
NM_001267550.2(TTN):c.83821G>A (p.Glu27941Lys)
|
rs545954394
|
0.00004
|
|
NM_001267550.2(TTN):c.84188G>A (p.Arg28063His)
|
rs570847832
|
0.00004
|
|
NM_001267550.2(TTN):c.84383G>A (p.Arg28128His)
|
rs367596354
|
0.00004
|
|
NM_001267550.2(TTN):c.8494G>C (p.Val2832Leu)
|
rs375549179
|
0.00004
|
|
NM_001267550.2(TTN):c.85838C>T (p.Thr28613Ile)
|
rs368615862
|
0.00004
|
|
NM_001267550.2(TTN):c.8640G>A (p.Glu2880=)
|
rs879222360
|
0.00004
|
|
NM_001267550.2(TTN):c.86420G>A (p.Arg28807His)
|
rs375800916
|
0.00004
|
|
NM_001267550.2(TTN):c.88513C>T (p.Arg29505Cys)
|
rs372360369
|
0.00004
|
|
NM_001267550.2(TTN):c.88666C>T (p.Arg29556Trp)
|
rs201657835
|
0.00004
|
|
NM_001267550.2(TTN):c.89230G>A (p.Ala29744Thr)
|
rs201592005
|
0.00004
|
|
NM_001267550.2(TTN):c.9116C>T (p.Thr3039Ile)
|
rs774523194
|
0.00004
|
|
NM_001267550.2(TTN):c.92222C>T (p.Ala30741Val)
|
rs202090888
|
0.00004
|
|
NM_001267550.2(TTN):c.92363G>A (p.Gly30788Asp)
|
rs754125601
|
0.00004
|
|
NM_001267550.2(TTN):c.93724C>T (p.Arg31242Cys)
|
rs563887822
|
0.00004
|
|
NM_001267550.2(TTN):c.94507G>A (p.Ala31503Thr)
|
rs375657115
|
0.00004
|
|
NM_001267550.2(TTN):c.94664G>A (p.Arg31555His)
|
rs727503545
|
0.00004
|
|
NM_001267550.2(TTN):c.95153G>T (p.Ser31718Ile)
|
rs758006837
|
0.00004
|
|
NM_001267550.2(TTN):c.95806G>A (p.Asp31936Asn)
|
rs267599025
|
0.00004
|
|
NM_001267550.2(TTN):c.96140C>T (p.Thr32047Met)
|
rs375640847
|
0.00004
|
|
NM_001267550.2(TTN):c.96310+4A>T
|
rs781222763
|
0.00004
|
|
NM_001267550.2(TTN):c.97396G>A (p.Glu32466Lys)
|
rs55915651
|
0.00004
|
|
NM_001267550.2(TTN):c.9749T>G (p.Val3250Gly)
|
rs55634230
|
0.00004
|
|
NM_001267550.2(TTN):c.98161G>A (p.Val32721Ile)
|
rs533651182
|
0.00004
|
|
NM_001267550.2(TTN):c.98641C>T (p.Pro32881Ser)
|
rs367979582
|
0.00004
|
|
NM_001267550.2(TTN):c.98759G>A (p.Arg32920Gln)
|
rs752015224
|
0.00004
|
|
NM_001267550.2(TTN):c.99310C>T (p.Arg33104Cys)
|
rs766169253
|
0.00004
|
|
NM_001267550.2(TTN):c.99335C>A (p.Thr33112Lys)
|
rs374883160
|
0.00004
|
|
NM_001267550.2(TTN):c.99344G>A (p.Gly33115Asp)
|
rs879247634
|
0.00004
|
|
NM_001276345.2(TNNT2):c.10A>C (p.Ile4Leu)
|
rs139705141
|
0.00004
|
|
NM_001276345.2(TNNT2):c.248A>G (p.Asn83Ser)
|
rs397516450
|
0.00004
|
|
NM_001276345.2(TNNT2):c.403G>A (p.Asp135Asn)
|
rs765359025
|
0.00004
|
|
NM_001276345.2(TNNT2):c.461G>A (p.Arg154Gln)
|
rs745632066
|
0.00004
|
|
NM_001276345.2(TNNT2):c.601-7G>A
|
rs369759523
|
0.00004
|
|
NM_001276345.2(TNNT2):c.706G>A (p.Glu236Lys)
|
rs730881107
|
0.00004
|
|
NM_001276345.2(TNNT2):c.779T>C (p.Leu260Pro)
|
rs376037051
|
0.00004
|
|
NM_001276345.2(TNNT2):c.810+5G>A
|
rs730881113
|
0.00004
|
|
NM_001289808.2(CRYAB):c.275A>G (p.Lys92Arg)
|
rs1256600488
|
0.00004
|
|
NM_001289808.2(CRYAB):c.32G>A (p.Arg11His)
|
rs782809283
|
0.00004
|
|
NM_001318895.3(FHL2):c.121G>A (p.Glu41Lys)
|
rs552625336
|
0.00004
|
|
NM_001318895.3(FHL2):c.430A>G (p.Lys144Glu)
|
rs770284685
|
0.00004
|
|
NM_001318895.3(FHL2):c.782G>A (p.Arg261His)
|
rs371759004
|
0.00004
|
|
NM_001386795.1(DTNA):c.1346+5G>C
|
rs397517448
|
0.00004
|
|
NM_001386795.1(DTNA):c.1366C>T (p.Arg456Trp)
|
rs759435722
|
0.00004
|
|
NM_001386795.1(DTNA):c.1367G>A (p.Arg456Gln)
|
rs777787083
|
0.00004
|
|
NM_001386795.1(DTNA):c.1841C>T (p.Thr614Met)
|
rs757959636
|
0.00004
|
|
NM_001386795.1(DTNA):c.2153G>A (p.Arg718His)
|
rs111587625
|
0.00004
|
|
NM_001386795.1(DTNA):c.2168C>T (p.Thr723Met)
|
rs200977103
|
0.00004
|
|
NM_001386795.1(DTNA):c.904G>A (p.Ala302Thr)
|
rs199983981
|
0.00004
|
|
NM_001386795.1(DTNA):c.938G>A (p.Arg313His)
|
rs780636786
|
0.00004
|
|
NM_001458.5(FLNC):c.1082G>A (p.Arg361His)
|
rs752888774
|
0.00004
|
|
NM_001458.5(FLNC):c.1225G>A (p.Asp409Asn)
|
rs371913931
|
0.00004
|
|
NM_001458.5(FLNC):c.140A>G (p.Asn47Ser)
|
rs770861991
|
0.00004
|
|
NM_001458.5(FLNC):c.2164G>A (p.Gly722Ser)
|
rs762248114
|
0.00004
|
|
NM_001458.5(FLNC):c.2519G>A (p.Arg840His)
|
rs376472014
|
0.00004
|
|
NM_001458.5(FLNC):c.2842G>A (p.Gly948Arg)
|
rs768103657
|
0.00004
|
|
NM_001458.5(FLNC):c.3004C>T (p.Arg1002Trp)
|
rs555764780
|
0.00004
|
|
NM_001458.5(FLNC):c.3680C>T (p.Thr1227Ile)
|
rs373573447
|
0.00004
|
|
NM_001458.5(FLNC):c.4003G>A (p.Val1335Met)
|
rs368220468
|
0.00004
|
|
NM_001458.5(FLNC):c.4055G>A (p.Arg1352His)
|
rs746731567
|
0.00004
|
|
NM_001458.5(FLNC):c.4556A>G (p.Tyr1519Cys)
|
rs1012086057
|
0.00004
|
|
NM_001458.5(FLNC):c.4660A>C (p.Ile1554Leu)
|
rs754224673
|
0.00004
|
|
NM_001458.5(FLNC):c.4951+3G>A
|
rs377554196
|
0.00004
|
|
NM_001458.5(FLNC):c.5709G>T (p.Glu1903Asp)
|
rs1279073825
|
0.00004
|
|
NM_001458.5(FLNC):c.5792G>A (p.Arg1931His)
|
rs780685346
|
0.00004
|
|
NM_001458.5(FLNC):c.5945G>A (p.Arg1982His)
|
rs375046429
|
0.00004
|
|
NM_001458.5(FLNC):c.6157G>A (p.Glu2053Lys)
|
rs761922251
|
0.00004
|
|
NM_001458.5(FLNC):c.7560C>T (p.Thr2520=)
|
rs527921534
|
0.00004
|
|
NM_001458.5(FLNC):c.7618G>C (p.Val2540Leu)
|
rs746349463
|
0.00004
|
|
NM_001458.5(FLNC):c.7877G>A (p.Ser2626Asn)
|
rs2639142
|
0.00004
|
|
NM_001458.5(FLNC):c.81C>A (p.Asp27Glu)
|
rs1318316375
|
0.00004
|
|
NM_001458.5(FLNC):c.925G>A (p.Glu309Lys)
|
rs781212262
|
0.00004
|
|
NM_001927.4(DES):c.109C>T (p.Arg37Trp)
|
rs537881554
|
0.00004
|
|
NM_001927.4(DES):c.1243C>T (p.Arg415Trp)
|
rs751942358
|
0.00004
|
|
NM_001927.4(DES):c.268G>C (p.Asp90His)
|
rs1267102255
|
0.00004
|
|
NM_001927.4(DES):c.662C>T (p.Ala221Val)
|
rs746814065
|
0.00004
|
|
NM_001927.4(DES):c.937G>A (p.Ala313Thr)
|
rs766252091
|
0.00004
|
|
NM_001943.5(DSG2):c.1063G>A (p.Ala355Thr)
|
rs201046640
|
0.00004
|
|
NM_001943.5(DSG2):c.1204G>A (p.Asp402Asn)
|
rs397516701
|
0.00004
|
|
NM_001943.5(DSG2):c.1837G>A (p.Ala613Thr)
|
rs368257724
|
0.00004
|
|
NM_001943.5(DSG2):c.1878A>G (p.Leu626=)
|
rs771576658
|
0.00004
|
|
NM_001943.5(DSG2):c.1885C>T (p.Pro629Ser)
|
rs200804638
|
0.00004
|
|
NM_001943.5(DSG2):c.1903T>C (p.Cys635Arg)
|
rs940804506
|
0.00004
|
|
NM_001943.5(DSG2):c.208A>G (p.Ile70Val)
|
rs769713919
|
0.00004
|
|
NM_001943.5(DSG2):c.2328C>A (p.Phe776Leu)
|
rs771104668
|
0.00004
|
|
NM_001943.5(DSG2):c.2405A>G (p.Glu802Gly)
|
rs763315024
|
0.00004
|
|
NM_001943.5(DSG2):c.2702A>G (p.Lys901Arg)
|
rs886039190
|
0.00004
|
|
NM_001943.5(DSG2):c.3129T>G (p.Asn1043Lys)
|
rs727502992
|
0.00004
|
|
NM_001943.5(DSG2):c.3167C>T (p.Thr1056Ile)
|
rs767538450
|
0.00004
|
|
NM_001943.5(DSG2):c.523+6A>G
|
rs769467654
|
0.00004
|
|
NM_001943.5(DSG2):c.593A>G (p.Tyr198Cys)
|
rs786204291
|
0.00004
|
|
NM_001985.3(ETFB):c.133G>A (p.Ala45Thr)
|
rs151108898
|
0.00004
|
|
NM_001985.3(ETFB):c.257G>C (p.Gly86Ala)
|
rs143568332
|
0.00004
|
|
NM_001985.3(ETFB):c.82G>A (p.Gly28Ser)
|
rs750230877
|
0.00004
|
|
NM_002230.4(JUP):c.1035G>C (p.Lys345Asn)
|
rs150194093
|
0.00004
|
|
NM_002230.4(JUP):c.115A>G (p.Ser39Gly)
|
rs782211863
|
0.00004
|
|
NM_002230.4(JUP):c.1219G>A (p.Val407Ile)
|
rs370913228
|
0.00004
|
|
NM_002230.4(JUP):c.1280C>T (p.Thr427Met)
|
rs781982717
|
0.00004
|
|
NM_002230.4(JUP):c.1331G>A (p.Arg444His)
|
rs369507567
|
0.00004
|
|
NM_002230.4(JUP):c.1359G>T (p.Glu453Asp)
|
rs376608339
|
0.00004
|
|
NM_002230.4(JUP):c.1486C>A (p.Pro496Thr)
|
rs1220042864
|
0.00004
|
|
NM_002230.4(JUP):c.1550C>T (p.Pro517Leu)
|
rs781988240
|
0.00004
|
|
NM_002230.4(JUP):c.161C>T (p.Thr54Met)
|
rs782529328
|
0.00004
|
|
NM_002230.4(JUP):c.1653G>A (p.Thr551=)
|
rs782044013
|
0.00004
|
|
NM_002230.4(JUP):c.1715G>A (p.Arg572Gln)
|
rs397517298
|
0.00004
|
|
NM_002230.4(JUP):c.1880C>T (p.Ser627Leu)
|
rs781883243
|
0.00004
|
|
NM_002230.4(JUP):c.2104C>T (p.Arg702Cys)
|
rs545547083
|
0.00004
|
|
NM_002230.4(JUP):c.2105G>A (p.Arg702His)
|
rs200690479
|
0.00004
|
|
NM_002230.4(JUP):c.2122G>A (p.Asp708Asn)
|
rs781804177
|
0.00004
|
|
NM_002230.4(JUP):c.2128C>T (p.Pro710Ser)
|
rs782693565
|
0.00004
|
|
NM_002230.4(JUP):c.257G>A (p.Arg86Gln)
|
rs782341732
|
0.00004
|
|
NM_002230.4(JUP):c.329C>T (p.Ala110Val)
|
rs782770278
|
0.00004
|
|
NM_002230.4(JUP):c.493A>G (p.Ile165Val)
|
rs782461741
|
0.00004
|
|
NM_002230.4(JUP):c.607C>T (p.Arg203Cys)
|
rs147354282
|
0.00004
|
|
NM_002230.4(JUP):c.624C>G (p.Ile208Met)
|
rs566435665
|
0.00004
|
|
NM_002230.4(JUP):c.746C>T (p.Thr249Met)
|
rs377612199
|
0.00004
|
|
NM_002471.4(MYH6):c.1639A>G (p.Met547Val)
|
rs760722098
|
0.00004
|
|
NM_002471.4(MYH6):c.1810G>A (p.Glu604Lys)
|
rs1203125451
|
0.00004
|
|
NM_002471.4(MYH6):c.2174G>A (p.Arg725His)
|
rs781467923
|
0.00004
|
|
NM_002471.4(MYH6):c.2384G>A (p.Arg795Gln)
|
rs267606907
|
0.00004
|
|
NM_002471.4(MYH6):c.2612G>A (p.Arg871His)
|
rs869025473
|
0.00004
|
|
NM_002471.4(MYH6):c.268A>G (p.Met90Val)
|
rs778199745
|
0.00004
|
|
NM_002471.4(MYH6):c.2929G>C (p.Val977Leu)
|
rs141079114
|
0.00004
|
|
NM_002471.4(MYH6):c.2965G>A (p.Glu989Lys)
|
rs369774403
|
0.00004
|
|
NM_002471.4(MYH6):c.3124C>A (p.Gln1042Lys)
|
rs756244326
|
0.00004
|
|
NM_002471.4(MYH6):c.3287T>C (p.Ile1096Thr)
|
rs762901493
|
0.00004
|
|
NM_002471.4(MYH6):c.3413G>A (p.Arg1138His)
|
rs745801044
|
0.00004
|
|
NM_002471.4(MYH6):c.3476C>T (p.Thr1159Met)
|
rs780305056
|
0.00004
|
|
NM_002471.4(MYH6):c.3569C>T (p.Thr1190Ile)
|
rs759117852
|
0.00004
|
|
NM_002471.4(MYH6):c.3618C>T (p.Gly1206=)
|
rs765103086
|
0.00004
|
|
NM_002471.4(MYH6):c.4082G>A (p.Arg1361His)
|
rs533942127
|
0.00004
|
|
NM_002471.4(MYH6):c.4525+3G>A
|
rs750348638
|
0.00004
|
|
NM_002471.4(MYH6):c.4684C>T (p.Arg1562Trp)
|
rs756237624
|
0.00004
|
|
NM_002471.4(MYH6):c.4822C>T (p.Arg1608Cys)
|
rs201683868
|
0.00004
|
|
NM_002471.4(MYH6):c.4993G>A (p.Ala1665Thr)
|
rs374271404
|
0.00004
|
|
NM_002471.4(MYH6):c.4999G>A (p.Asp1667Asn)
|
rs758251388
|
0.00004
|
|
NM_002471.4(MYH6):c.5196G>A (p.Met1732Ile)
|
rs1028831815
|
0.00004
|
|
NM_002471.4(MYH6):c.5485G>C (p.Glu1829Gln)
|
rs727504626
|
0.00004
|
|
NM_002471.4(MYH6):c.5513C>T (p.Ser1838Leu)
|
rs747673552
|
0.00004
|
|
NM_002471.4(MYH6):c.5594G>A (p.Arg1865Gln)
|
rs138720701
|
0.00004
|
|
NM_002471.4(MYH6):c.5661G>A (p.Ala1887=)
|
rs759126258
|
0.00004
|
|
NM_002471.4(MYH6):c.5735C>T (p.Ala1912Val)
|
rs373076710
|
0.00004
|
|
NM_002471.4(MYH6):c.610C>T (p.Arg204Cys)
|
rs756369181
|
0.00004
|
|
NM_002471.4(MYH6):c.928G>A (p.Asp310Asn)
|
rs374692396
|
0.00004
|
|
NM_002471.4(MYH6):c.982G>A (p.Glu328Lys)
|
rs144422878
|
0.00004
|
|
NM_002633.3(PGM1):c.1048A>G (p.Ile350Val)
|
rs751121095
|
0.00004
|
|
NM_002633.3(PGM1):c.1160G>A (p.Arg387His)
|
rs548040301
|
0.00004
|
|
NM_002633.3(PGM1):c.1355G>A (p.Arg452His)
|
rs147763516
|
0.00004
|
|
NM_002633.3(PGM1):c.178G>C (p.Gly60Arg)
|
rs1287963513
|
0.00004
|
|
NM_002633.3(PGM1):c.650G>A (p.Arg217Gln)
|
rs188291855
|
0.00004
|
|
NM_002633.3(PGM1):c.708C>G (p.Ile236Met)
|
rs200237046
|
0.00004
|
|
NM_002667.5(PLN):c.145G>A (p.Val49Met)
|
rs749962743
|
0.00004
|
|
NM_003476.5(CSRP3):c.230C>G (p.Ala77Gly)
|
rs772138289
|
0.00004
|
|
NM_003476.5(CSRP3):c.298C>T (p.Arg100Cys)
|
rs201214593
|
0.00004
|
|
NM_003476.5(CSRP3):c.436C>T (p.Arg146Cys)
|
rs376198883
|
0.00004
|
|
NM_003476.5(CSRP3):c.536C>T (p.Thr179Met)
|
rs142019584
|
0.00004
|
|
NM_003673.4(TCAP):c.460C>T (p.Arg154Cys)
|
rs755539784
|
0.00004
|
|
NM_003803.4(MYOM1):c.1288A>G (p.Ile430Val)
|
rs764996297
|
0.00004
|
|
NM_003803.4(MYOM1):c.1304A>G (p.Lys435Arg)
|
rs978595865
|
0.00004
|
|
NM_003803.4(MYOM1):c.1502A>G (p.Asp501Gly)
|
rs374352178
|
0.00004
|
|
NM_003803.4(MYOM1):c.1568A>G (p.Lys523Arg)
|
rs372075959
|
0.00004
|
|
NM_003803.4(MYOM1):c.1703G>A (p.Arg568His)
|
rs769000504
|
0.00004
|
|
NM_003803.4(MYOM1):c.2173G>C (p.Glu725Gln)
|
rs201817118
|
0.00004
|
|
NM_003803.4(MYOM1):c.2429G>A (p.Arg810Gln)
|
rs368529890
|
0.00004
|
|
NM_003803.4(MYOM1):c.2582T>G (p.Val861Gly)
|
rs757989708
|
0.00004
|
|
NM_003803.4(MYOM1):c.2887G>A (p.Ala963Thr)
|
rs780452717
|
0.00004
|
|
NM_003803.4(MYOM1):c.3089A>G (p.Lys1030Arg)
|
rs902378657
|
0.00004
|
|
NM_003803.4(MYOM1):c.3125C>T (p.Pro1042Leu)
|
rs761951856
|
0.00004
|
|
NM_003803.4(MYOM1):c.3182C>T (p.Pro1061Leu)
|
rs1028776972
|
0.00004
|
|
NM_003803.4(MYOM1):c.3200G>A (p.Arg1067Gln)
|
rs767647566
|
0.00004
|
|
NM_003803.4(MYOM1):c.329C>T (p.Ser110Phe)
|
rs75131308
|
0.00004
|
|
NM_003803.4(MYOM1):c.3362C>T (p.Ala1121Val)
|
rs371614580
|
0.00004
|
|
NM_003803.4(MYOM1):c.3475G>A (p.Glu1159Lys)
|
rs764808541
|
0.00004
|
|
NM_003803.4(MYOM1):c.3523T>G (p.Tyr1175Asp)
|
rs370276820
|
0.00004
|
|
NM_003803.4(MYOM1):c.3772G>A (p.Gly1258Ser)
|
rs752486832
|
0.00004
|
|
NM_003803.4(MYOM1):c.3914T>C (p.Met1305Thr)
|
rs376804166
|
0.00004
|
|
NM_003803.4(MYOM1):c.409A>C (p.Met137Leu)
|
rs765511668
|
0.00004
|
|
NM_003803.4(MYOM1):c.4301G>A (p.Arg1434Gln)
|
rs776173695
|
0.00004
|
|
NM_003803.4(MYOM1):c.4717C>T (p.Arg1573Trp)
|
rs559625778
|
0.00004
|
|
NM_003803.4(MYOM1):c.538A>G (p.Thr180Ala)
|
rs553556385
|
0.00004
|
|
NM_003803.4(MYOM1):c.617A>G (p.Lys206Arg)
|
rs548278691
|
0.00004
|
|
NM_003803.4(MYOM1):c.686C>A (p.Ala229Asp)
|
rs866006864
|
0.00004
|
|
NM_003803.4(MYOM1):c.860C>T (p.Thr287Met)
|
rs558965614
|
0.00004
|
|
NM_003803.4(MYOM1):c.919C>T (p.Arg307Cys)
|
rs368343125
|
0.00004
|
|
NM_004100.5(EYA4):c.1223G>A (p.Arg408His)
|
rs760787542
|
0.00004
|
|
NM_004100.5(EYA4):c.1379C>A (p.Ala460Glu)
|
rs766857002
|
0.00004
|
|
NM_004100.5(EYA4):c.1603A>G (p.Ile535Val)
|
rs200300314
|
0.00004
|
|
NM_004100.5(EYA4):c.182C>T (p.Thr61Ile)
|
rs778473535
|
0.00004
|
|
NM_004100.5(EYA4):c.263C>G (p.Pro88Arg)
|
rs727503050
|
0.00004
|
|
NM_004100.5(EYA4):c.529G>A (p.Val177Ile)
|
rs776409783
|
0.00004
|
|
NM_004281.4(BAG3):c.1157C>A (p.Ser386Tyr)
|
rs756178548
|
0.00004
|
|
NM_004281.4(BAG3):c.1291A>G (p.Lys431Glu)
|
rs1374652846
|
0.00004
|
|
NM_004281.4(BAG3):c.1625C>T (p.Ala542Val)
|
rs770920565
|
0.00004
|
|
NM_004281.4(BAG3):c.191C>T (p.Ser64Phe)
|
rs780615753
|
0.00004
|
|
NM_004281.4(BAG3):c.316C>T (p.Arg106Trp)
|
rs767341152
|
0.00004
|
|
NM_004281.4(BAG3):c.34G>A (p.Val12Met)
|
rs367917821
|
0.00004
|
|
NM_004281.4(BAG3):c.679C>G (p.Gln227Glu)
|
rs149517238
|
0.00004
|
|
NM_004281.4(BAG3):c.743A>G (p.His248Arg)
|
rs369947845
|
0.00004
|
|
NM_004281.4(BAG3):c.968G>A (p.Ser323Asn)
|
rs754387872
|
0.00004
|
|
NM_004415.4(DSP):c.596G>A (p.Arg199Lys)
|
rs143648545
|
0.00004
|
|
NM_004415.4(DSP):c.7970C>T (p.Thr2657Ile)
|
rs1478775642
|
0.00004
|
|
NM_004415.4(DSP):c.939C>T (p.Ser313=)
|
rs766580649
|
0.00004
|
|
NM_004453.4(ETFDH):c.1480G>C (p.Glu494Gln)
|
rs771456968
|
0.00004
|
|
NM_004453.4(ETFDH):c.1690+4A>G
|
rs752590057
|
0.00004
|
|
NM_004453.4(ETFDH):c.523C>T (p.Arg175Cys)
|
rs762928354
|
0.00004
|
|
NM_004517.4(ILK):c.337G>T (p.Asp113Tyr)
|
rs764104201
|
0.00004
|
|
NM_004517.4(ILK):c.521G>A (p.Arg174His)
|
rs192233749
|
0.00004
|
|
NM_004517.4(ILK):c.862G>A (p.Val288Ile)
|
rs377702962
|
0.00004
|
|
NM_005159.5(ACTC1):c.56_57insCA (p.Lys20fs)
|
rs730880387
|
0.00004
|
|
NM_005159.5(ACTC1):c.623G>A (p.Arg208His)
|
rs142839840
|
0.00004
|
|
NM_005343.4(HRAS):c.368G>C (p.Arg123Pro)
|
rs730880464
|
0.00004
|
|
NM_005921.2(MAP3K1):c.3266C>G (p.Ser1089Cys)
|
rs755658722
|
0.00004
|
|
NM_006073.4(TRDN):c.1136-1G>A
|
rs769776218
|
0.00004
|
|
NM_006073.4(TRDN):c.1156C>A (p.Pro386Thr)
|
rs555383967
|
0.00004
|
|
NM_006073.4(TRDN):c.1322-10T>A
|
rs764565579
|
0.00004
|
|
NM_006073.4(TRDN):c.1589C>G (p.Ala530Gly)
|
rs367716594
|
0.00004
|
|
NM_006073.4(TRDN):c.1598-6T>G
|
rs554635684
|
0.00004
|
|
NM_006073.4(TRDN):c.1967G>A (p.Arg656Lys)
|
rs1028703114
|
0.00004
|
|
NM_006073.4(TRDN):c.2131C>T (p.Arg711Cys)
|
rs373408498
|
0.00004
|
|
NM_006073.4(TRDN):c.2132G>A (p.Arg711His)
|
rs763375903
|
0.00004
|
|
NM_006073.4(TRDN):c.2135C>T (p.Pro712Leu)
|
rs761888858
|
0.00004
|
|
NM_006073.4(TRDN):c.2138G>A (p.Gly713Glu)
|
rs536487170
|
0.00004
|
|
NM_006073.4(TRDN):c.2179C>T (p.Gln727Ter)
|
rs201041981
|
0.00004
|
|
NM_006073.4(TRDN):c.352G>T (p.Asp118Tyr)
|
rs762075230
|
0.00004
|
|
NM_006073.4(TRDN):c.376G>A (p.Glu126Lys)
|
rs539743603
|
0.00004
|
|
NM_006073.4(TRDN):c.575A>C (p.Lys192Thr)
|
rs777796676
|
0.00004
|
|
NM_006073.4(TRDN):c.991G>A (p.Glu331Lys)
|
rs763851599
|
0.00004
|
|
NM_006270.5(RRAS):c.38G>A (p.Arg13Gln)
|
rs764597042
|
0.00004
|
|
NM_006270.5(RRAS):c.400G>A (p.Asp134Asn)
|
rs374650566
|
0.00004
|
|
NM_006270.5(RRAS):c.453+5G>A
|
rs766707816
|
0.00004
|
|
NM_006270.5(RRAS):c.481G>A (p.Gly161Ser)
|
rs758697481
|
0.00004
|
|
NM_006270.5(RRAS):c.598C>T (p.Pro200Ser)
|
rs548040971
|
0.00004
|
|
NM_006270.5(RRAS):c.646G>A (p.Val216Ile)
|
rs748655822
|
0.00004
|
|
NM_006393.3(NEBL):c.1205A>C (p.Tyr402Ser)
|
rs375569591
|
0.00004
|
|
NM_006393.3(NEBL):c.1227+4C>T
|
rs373813159
|
0.00004
|
|
NM_006393.3(NEBL):c.1316G>A (p.Arg439Gln)
|
rs755916272
|
0.00004
|
|
NM_006393.3(NEBL):c.1667G>C (p.Ser556Thr)
|
rs373244101
|
0.00004
|
|
NM_006393.3(NEBL):c.182C>T (p.Ser61Phe)
|
rs543765307
|
0.00004
|
|
NM_006393.3(NEBL):c.1997C>T (p.Pro666Leu)
|
rs771905060
|
0.00004
|
|
NM_006393.3(NEBL):c.2006T>C (p.Met669Thr)
|
rs375197621
|
0.00004
|
|
NM_006393.3(NEBL):c.2012C>T (p.Pro671Leu)
|
rs770107953
|
0.00004
|
|
NM_006393.3(NEBL):c.2323del (p.Glu775fs)
|
rs776502857
|
0.00004
|
|
NM_006393.3(NEBL):c.241G>A (p.Gly81Ser)
|
rs369862013
|
0.00004
|
|
NM_006393.3(NEBL):c.2445G>A (p.Val815=)
|
rs578252294
|
0.00004
|
|
NM_006393.3(NEBL):c.2718C>A (p.Ser906Arg)
|
rs768402237
|
0.00004
|
|
NM_006393.3(NEBL):c.310C>T (p.Arg104Trp)
|
rs548671032
|
0.00004
|
|
NM_006393.3(NEBL):c.311G>A (p.Arg104Gln)
|
rs537661572
|
0.00004
|
|
NM_006393.3(NEBL):c.412G>C (p.Asp138His)
|
rs561316471
|
0.00004
|
|
NM_006393.3(NEBL):c.625G>A (p.Ala209Thr)
|
rs142138590
|
0.00004
|
|
NM_006393.3(NEBL):c.715A>G (p.Met239Val)
|
rs1037792824
|
0.00004
|
|
NM_006393.3(NEBL):c.721G>A (p.Asp241Asn)
|
rs372364915
|
0.00004
|
|
NM_006393.3(NEBL):c.815A>G (p.Asp272Gly)
|
rs778861859
|
0.00004
|
|
NM_006393.3(NEBL):c.872A>G (p.His291Arg)
|
rs147853594
|
0.00004
|
|
NM_006393.3(NEBL):c.903C>T (p.Gly301=)
|
rs200799762
|
0.00004
|
|
NM_006440.5(TXNRD2):c.1001C>T (p.Thr334Ile)
|
rs780014083
|
0.00004
|
|
NM_006440.5(TXNRD2):c.1054C>A (p.Pro352Thr)
|
rs1388529732
|
0.00004
|
|
NM_006440.5(TXNRD2):c.1376T>C (p.Leu459Pro)
|
rs776104767
|
0.00004
|
|
NM_006440.5(TXNRD2):c.139G>A (p.Gly47Arg)
|
rs759298418
|
0.00004
|
|
NM_006440.5(TXNRD2):c.1406A>G (p.Asn469Ser)
|
rs757704344
|
0.00004
|
|
NM_006440.5(TXNRD2):c.1436T>C (p.Leu479Pro)
|
rs756559860
|
0.00004
|
|
NM_006440.5(TXNRD2):c.1514T>A (p.Val505Asp)
|
rs759613137
|
0.00004
|
|
NM_006440.5(TXNRD2):c.1522C>T (p.Arg508Cys)
|
rs368176907
|
0.00004
|
|
NM_006440.5(TXNRD2):c.40C>T (p.Arg14Cys)
|
rs1259706318
|
0.00004
|
|
NM_006440.5(TXNRD2):c.449+4C>T
|
rs755751835
|
0.00004
|
|
NM_006440.5(TXNRD2):c.461A>T (p.Tyr154Phe)
|
rs886509891
|
0.00004
|
|
NM_006440.5(TXNRD2):c.595G>A (p.Glu199Lys)
|
rs763888077
|
0.00004
|
|
NM_006440.5(TXNRD2):c.760C>T (p.Arg254Cys)
|
rs183950022
|
0.00004
|
|
NM_006912.6(RIT1):c.341T>A (p.Phe114Tyr)
|
rs745807905
|
0.00004
|
|
NM_006912.6(RIT1):c.635G>A (p.Arg212Gln)
|
rs764347644
|
0.00004
|
|
NM_006939.4(SOS2):c.257C>T (p.Ala86Val)
|
rs146272145
|
0.00004
|
|
NM_006939.4(SOS2):c.3076C>T (p.Pro1026Ser)
|
rs201874067
|
0.00004
|
|
NM_006939.4(SOS2):c.3335G>A (p.Cys1112Tyr)
|
rs756103351
|
0.00004
|
|
NM_006939.4(SOS2):c.811A>G (p.Ser271Gly)
|
rs775494170
|
0.00004
|
|
NM_012082.4(ZFPM2):c.2633C>T (p.Pro878Leu)
|
rs753602172
|
0.00004
|
|
NM_013266.4(CTNNA3):c.1721T>C (p.Leu574Pro)
|
rs375428912
|
0.00004
|
|
NM_013266.4(CTNNA3):c.1823A>T (p.Asp608Val)
|
rs138314889
|
0.00004
|
|
NM_013266.4(CTNNA3):c.1841A>G (p.Tyr614Cys)
|
rs770893892
|
0.00004
|
|
NM_013266.4(CTNNA3):c.794C>T (p.Pro265Leu)
|
rs151069922
|
0.00004
|
|
NM_013266.4(CTNNA3):c.959C>T (p.Thr320Met)
|
rs139460414
|
0.00004
|
|
NM_013266.4(CTNNA3):c.973C>T (p.Arg325Ter)
|
rs369024617
|
0.00004
|
|
NM_013266.4(CTNNA3):c.980G>A (p.Arg327Gln)
|
rs748583513
|
0.00004
|
|
NM_014000.3(VCL):c.1066G>A (p.Val356Ile)
|
rs141503166
|
0.00004
|
|
NM_014000.3(VCL):c.1176+4G>C
|
rs1286302808
|
0.00004
|
|
NM_014000.3(VCL):c.1390A>G (p.Lys464Glu)
|
rs200710859
|
0.00004
|
|
NM_014000.3(VCL):c.1505G>A (p.Arg502Gln)
|
rs201808867
|
0.00004
|
|
NM_014000.3(VCL):c.1511T>C (p.Ile504Thr)
|
rs745343813
|
0.00004
|
|
NM_014000.3(VCL):c.1534C>T (p.Arg512Cys)
|
rs781079975
|
0.00004
|
|
NM_014000.3(VCL):c.185T>C (p.Val62Ala)
|
rs769799445
|
0.00004
|
|
NM_014000.3(VCL):c.1871A>T (p.Glu624Val)
|
rs775238596
|
0.00004
|
|
NM_014000.3(VCL):c.1928C>T (p.Thr643Met)
|
rs150643310
|
0.00004
|
|
NM_014000.3(VCL):c.2046A>T (p.Leu682Phe)
|
rs565398652
|
0.00004
|
|
NM_014000.3(VCL):c.2399A>T (p.Asp800Val)
|
rs919509789
|
0.00004
|
|
NM_014000.3(VCL):c.2762C>T (p.Ala921Val)
|
rs375254227
|
0.00004
|
|
NM_014000.3(VCL):c.2887A>G (p.Asn963Asp)
|
rs777702397
|
0.00004
|
|
NM_014000.3(VCL):c.3092G>A (p.Arg1031Gln)
|
rs397517238
|
0.00004
|
|
NM_014000.3(VCL):c.32G>A (p.Ser11Asn)
|
rs777811020
|
0.00004
|
|
NM_014000.3(VCL):c.3373C>T (p.Arg1125Cys)
|
rs373317423
|
0.00004
|
|
NM_014000.3(VCL):c.524T>C (p.Ile175Thr)
|
rs983682263
|
0.00004
|
|
NM_014000.3(VCL):c.788C>G (p.Thr263Ser)
|
rs150443513
|
0.00004
|
|
NM_014476.6(PDLIM3):c.1043G>A (p.Arg348His)
|
rs764823333
|
0.00004
|
|
NM_014476.6(PDLIM3):c.11C>T (p.Thr4Met)
|
rs781358846
|
0.00004
|
|
NM_014476.6(PDLIM3):c.547G>C (p.Val183Leu)
|
rs765318874
|
0.00004
|
|
NM_014476.6(PDLIM3):c.597T>A (p.Asp199Glu)
|
rs1064796959
|
0.00004
|
|
NM_014476.6(PDLIM3):c.749C>T (p.Ser250Leu)
|
rs781084216
|
0.00004
|
|
NM_014476.6(PDLIM3):c.955G>A (p.Val319Met)
|
rs756047162
|
0.00004
|
|
NM_014908.4(DOLK):c.1069C>T (p.Pro357Ser)
|
rs1267588037
|
0.00004
|
|
NM_014908.4(DOLK):c.1165C>T (p.Arg389Trp)
|
rs758129067
|
0.00004
|
|
NM_014908.4(DOLK):c.1270A>G (p.Arg424Gly)
|
rs778808864
|
0.00004
|
|
NM_014908.4(DOLK):c.1283A>C (p.Gln428Pro)
|
rs189623590
|
0.00004
|
|
NM_014908.4(DOLK):c.1568T>C (p.Ile523Thr)
|
rs774524497
|
0.00004
|
|
NM_014908.4(DOLK):c.839G>A (p.Arg280His)
|
rs779503646
|
0.00004
|
|
NM_015374.3(SUN2):c.1135C>T (p.Arg379Trp)
|
rs372953657
|
0.00004
|
|
NM_015374.3(SUN2):c.1301C>T (p.Ser434Leu)
|
rs990153882
|
0.00004
|
|
NM_015374.3(SUN2):c.1394T>A (p.Leu465His)
|
rs751880061
|
0.00004
|
|
NM_015374.3(SUN2):c.1613G>A (p.Arg538His)
|
rs539760038
|
0.00004
|
|
NM_015374.3(SUN2):c.1732G>A (p.Gly578Ser)
|
rs750800615
|
0.00004
|
|
NM_015374.3(SUN2):c.800C>T (p.Ser267Leu)
|
rs200092509
|
0.00004
|
|
NM_015374.3(SUN2):c.854G>A (p.Arg285Gln)
|
rs760591672
|
0.00004
|
|
NM_015374.3(SUN2):c.910C>T (p.Arg304Trp)
|
rs199636823
|
0.00004
|
|
NM_015374.3(SUN2):c.911G>A (p.Arg304Gln)
|
rs372788944
|
0.00004
|
|
NM_015374.3(SUN2):c.919C>T (p.Arg307Cys)
|
rs758857415
|
0.00004
|
|
NM_016203.4(PRKAG2):c.488C>T (p.Pro163Leu)
|
rs876657963
|
0.00004
|
|
NM_016203.4(PRKAG2):c.581C>T (p.Ser194Leu)
|
rs145669999
|
0.00004
|
|
NM_016203.4(PRKAG2):c.590C>T (p.Pro197Leu)
|
rs368637364
|
0.00004
|
|
NM_016599.5(MYOZ2):c.403C>A (p.Pro135Thr)
|
rs144720577
|
0.00004
|
|
NM_016599.5(MYOZ2):c.523G>A (p.Gly175Arg)
|
rs147532351
|
0.00004
|
|
NM_016599.5(MYOZ2):c.674C>T (p.Pro225Leu)
|
rs200428820
|
0.00004
|
|
NM_020297.4(ABCC9):c.1455+4A>C
|
rs376587222
|
0.00004
|
|
NM_020297.4(ABCC9):c.1849G>A (p.Asp617Asn)
|
rs757681761
|
0.00004
|
|
NM_020297.4(ABCC9):c.2500T>C (p.Phe834Leu)
|
rs367776754
|
0.00004
|
|
NM_020297.4(ABCC9):c.256G>C (p.Glu86Gln)
|
rs774026262
|
0.00004
|
|
NM_020297.4(ABCC9):c.2599G>A (p.Val867Ile)
|
rs376754153
|
0.00004
|
|
NM_020297.4(ABCC9):c.287G>A (p.Arg96Gln)
|
rs202103893
|
0.00004
|
|
NM_020297.4(ABCC9):c.3061G>A (p.Glu1021Lys)
|
rs749668601
|
0.00004
|
|
NM_020297.4(ABCC9):c.3192T>A (p.Ala1064=)
|
rs374811560
|
0.00004
|
|
NM_020297.4(ABCC9):c.4205C>G (p.Ser1402Cys)
|
rs369587958
|
0.00004
|
|
NM_020297.4(ABCC9):c.970C>T (p.Arg324Cys)
|
rs779720018
|
0.00004
|
|
NM_020433.5(JPH2):c.1033G>C (p.Val345Leu)
|
rs748233107
|
0.00004
|
|
NM_020433.5(JPH2):c.1202C>T (p.Ala401Val)
|
rs774001072
|
0.00004
|
|
NM_020433.5(JPH2):c.1658C>T (p.Ala553Val)
|
rs200422043
|
0.00004
|
|
NM_020433.5(JPH2):c.1787C>T (p.Pro596Leu)
|
rs1376826403
|
0.00004
|
|
NM_020433.5(JPH2):c.2062G>A (p.Ala688Thr)
|
rs540933939
|
0.00004
|
|
NM_020433.5(JPH2):c.299C>T (p.Ser100Leu)
|
rs145401873
|
0.00004
|
|
NM_021167.5(GATAD1):c.646A>T (p.Met216Leu)
|
rs778197140
|
0.00004
|
|
NM_022114.4(PRDM16):c.1475G>A (p.Arg492Lys)
|
rs12061858
|
0.00004
|
|
NM_022114.4(PRDM16):c.1927G>A (p.Ala643Thr)
|
rs554385722
|
0.00004
|
|
NM_022114.4(PRDM16):c.1930G>A (p.Glu644Lys)
|
rs61756438
|
0.00004
|
|
NM_022114.4(PRDM16):c.2146C>G (p.Leu716Val)
|
rs530296389
|
0.00004
|
|
NM_022114.4(PRDM16):c.2276G>A (p.Arg759Gln)
|
rs762997591
|
0.00004
|
|
NM_022114.4(PRDM16):c.2419A>G (p.Ile807Val)
|
rs772583416
|
0.00004
|
|
NM_022114.4(PRDM16):c.2442C>A (p.Ser814Arg)
|
rs752476219
|
0.00004
|
|
NM_022114.4(PRDM16):c.2467C>T (p.Arg823Cys)
|
rs932569189
|
0.00004
|
|
NM_022114.4(PRDM16):c.2536C>T (p.Arg846Trp)
|
rs752922142
|
0.00004
|
|
NM_022114.4(PRDM16):c.2635G>A (p.Val879Met)
|
rs746861136
|
0.00004
|
|
NM_022114.4(PRDM16):c.2992G>A (p.Val998Ile)
|
rs144180800
|
0.00004
|
|
NM_022114.4(PRDM16):c.3097G>A (p.Glu1033Lys)
|
rs554867627
|
0.00004
|
|
NM_022114.4(PRDM16):c.3106C>T (p.Pro1036Ser)
|
rs375442968
|
0.00004
|
|
NM_022114.4(PRDM16):c.316G>A (p.Ala106Thr)
|
rs766897178
|
0.00004
|
|
NM_022114.4(PRDM16):c.3272G>A (p.Arg1091Gln)
|
rs564269453
|
0.00004
|
|
NM_022114.4(PRDM16):c.3287C>T (p.Ala1096Val)
|
rs753755785
|
0.00004
|
|
NM_022114.4(PRDM16):c.3307G>A (p.Gly1103Ser)
|
rs780612473
|
0.00004
|
|
NM_022114.4(PRDM16):c.3436G>A (p.Ala1146Thr)
|
rs377255144
|
0.00004
|
|
NM_022114.4(PRDM16):c.3499G>A (p.Val1167Met)
|
rs1229345087
|
0.00004
|
|
NM_022114.4(PRDM16):c.3631G>A (p.Val1211Met)
|
rs376835158
|
0.00004
|
|
NM_022114.4(PRDM16):c.3757T>C (p.Ser1253Pro)
|
rs903199574
|
0.00004
|
|
NM_022114.4(PRDM16):c.445G>A (p.Glu149Lys)
|
rs576922307
|
0.00004
|
|
NM_022114.4(PRDM16):c.490G>A (p.Gly164Arg)
|
rs770235387
|
0.00004
|
|
NM_022114.4(PRDM16):c.77G>A (p.Arg26Gln)
|
rs375422885
|
0.00004
|
|
NM_024334.3(TMEM43):c.1021C>T (p.Arg341Ter)
|
rs778127887
|
0.00004
|
|
NM_024334.3(TMEM43):c.1026C>A (p.Asp342Glu)
|
rs376514478
|
0.00004
|
|
NM_024334.3(TMEM43):c.121A>G (p.Met41Val)
|
rs144334386
|
0.00004
|
|
NM_024334.3(TMEM43):c.166C>T (p.Arg56Cys)
|
rs201094625
|
0.00004
|
|
NM_024334.3(TMEM43):c.206C>T (p.Ser69Leu)
|
rs369779779
|
0.00004
|
|
NM_024334.3(TMEM43):c.231C>G (p.Ile77Met)
|
rs899266809
|
0.00004
|
|
NM_024334.3(TMEM43):c.310C>G (p.Pro104Ala)
|
rs775872602
|
0.00004
|
|
NM_024334.3(TMEM43):c.413A>G (p.Gln138Arg)
|
rs397517384
|
0.00004
|
|
NM_024334.3(TMEM43):c.447dup (p.Glu150Ter)
|
rs1423539317
|
0.00004
|
|
NM_024334.3(TMEM43):c.487C>T (p.Arg163Ter)
|
rs147336367
|
0.00004
|
|
NM_024334.3(TMEM43):c.518T>C (p.Met173Thr)
|
rs373023080
|
0.00004
|
|
NM_024334.3(TMEM43):c.742C>A (p.Leu248Met)
|
rs780389237
|
0.00004
|
|
NM_024334.3(TMEM43):c.947G>C (p.Trp316Ser)
|
rs199526104
|
0.00004
|
|
NM_024422.6(DSC2):c.1034T>C (p.Ile345Thr)
|
rs777688726
|
0.00004
|
|
NM_024422.6(DSC2):c.2191G>A (p.Asp731Asn)
|
rs762055797
|
0.00004
|
|
NM_024422.6(DSC2):c.2335G>A (p.Gly779Arg)
|
rs139290300
|
0.00004
|
|
NM_024422.6(DSC2):c.2366G>A (p.Gly789Glu)
|
rs766828422
|
0.00004
|
|
NM_024422.6(DSC2):c.239A>G (p.Tyr80Cys)
|
rs369761766
|
0.00004
|
|
NM_024422.6(DSC2):c.2576A>G (p.Tyr859Cys)
|
rs758950880
|
0.00004
|
|
NM_024422.6(DSC2):c.2591C>T (p.Ser864Leu)
|
rs202031070
|
0.00004
|
|
NM_024422.6(DSC2):c.286A>G (p.Ile96Val)
|
rs772447450
|
0.00004
|
|
NM_024422.6(DSC2):c.397G>A (p.Ala133Thr)
|
rs200218585
|
0.00004
|
|
NM_024422.6(DSC2):c.490G>A (p.Ala164Thr)
|
rs978623916
|
0.00004
|
|
NM_032578.4(MYPN):c.1518T>G (p.Phe506Leu)
|
rs780297988
|
0.00004
|
|
NM_032578.4(MYPN):c.1789C>T (p.Arg597Cys)
|
rs367570424
|
0.00004
|
|
NM_032578.4(MYPN):c.1936G>A (p.Val646Met)
|
rs772535532
|
0.00004
|
|
NM_032578.4(MYPN):c.2105C>T (p.Ala702Val)
|
rs144822514
|
0.00004
|
|
NM_032578.4(MYPN):c.3272G>A (p.Arg1091Gln)
|
rs768452699
|
0.00004
|
|
NM_032578.4(MYPN):c.3305C>T (p.Pro1102Leu)
|
rs201693405
|
0.00004
|
|
NM_032578.4(MYPN):c.3416G>A (p.Arg1139His)
|
rs531222847
|
0.00004
|
|
NM_032578.4(MYPN):c.578A>G (p.Gln193Arg)
|
rs573684358
|
0.00004
|
|
NM_033118.4(MYLK2):c.1657C>T (p.Arg553Cys)
|
rs765059037
|
0.00004
|
|
NM_033118.4(MYLK2):c.1702C>T (p.Arg568Cys)
|
rs772716379
|
0.00004
|
|
NM_033118.4(MYLK2):c.557C>T (p.Thr186Met)
|
rs727504591
|
0.00004
|
|
NM_033118.4(MYLK2):c.5C>T (p.Ala2Val)
|
rs373406874
|
0.00004
|
|
NM_033118.4(MYLK2):c.748G>C (p.Glu250Gln)
|
rs1085307713
|
0.00004
|
|
NM_144573.4(NEXN):c.1010T>C (p.Ile337Thr)
|
rs749553777
|
0.00004
|
|
NM_144573.4(NEXN):c.1471G>C (p.Glu491Gln)
|
rs373057251
|
0.00004
|
|
NM_144573.4(NEXN):c.1529A>G (p.Lys510Arg)
|
rs759726867
|
0.00004
|
|
NM_144573.4(NEXN):c.1595T>C (p.Ile532Thr)
|
rs754656961
|
0.00004
|
|
NM_144573.4(NEXN):c.175G>A (p.Glu59Lys)
|
rs761888910
|
0.00004
|
|
NM_144573.4(NEXN):c.1892T>C (p.Ile631Thr)
|
rs775292649
|
0.00004
|
|
NM_144573.4(NEXN):c.1994G>T (p.Ser665Ile)
|
rs777703689
|
0.00004
|
|
NM_144573.4(NEXN):c.370G>A (p.Glu124Lys)
|
rs372745590
|
0.00004
|
|
NM_144573.4(NEXN):c.818G>A (p.Arg273His)
|
rs765385072
|
0.00004
|
|
NM_144573.4(NEXN):c.836G>A (p.Arg279His)
|
rs750349053
|
0.00004
|
|
NM_145046.5(CALR3):c.356A>G (p.Gln119Arg)
|
rs946376334
|
0.00004
|
|
NM_145046.5(CALR3):c.619A>G (p.Lys207Glu)
|
rs111870908
|
0.00004
|
|
NM_145046.5(CALR3):c.632C>T (p.Pro211Leu)
|
rs772004043
|
0.00004
|
|
NM_145046.5(CALR3):c.641C>G (p.Ser214Trp)
|
rs550089146
|
0.00004
|
|
NM_152594.3(SPRED1):c.1295C>T (p.Ala432Val)
|
rs200871227
|
0.00004
|
|
NM_152594.3(SPRED1):c.645A>C (p.Gln215His)
|
rs144227155
|
0.00004
|
|
NM_152594.3(SPRED1):c.842A>G (p.Gln281Arg)
|
rs1427402192
|
0.00004
|
|
NM_181703.4(GJA5):c.1068A>G (p.Leu356=)
|
rs886045250
|
0.00004
|
|
NM_181703.4(GJA5):c.317G>T (p.Arg106Leu)
|
rs367924086
|
0.00004
|
|
NM_181703.4(GJA5):c.377C>T (p.Pro126Leu)
|
rs782780433
|
0.00004
|
|
NM_181703.4(GJA5):c.724C>T (p.Arg242Trp)
|
rs782417838
|
0.00004
|
|
NM_181703.4(GJA5):c.974A>G (p.Asn325Ser)
|
rs145523099
|
0.00004
|
|
NM_182914.3(SYNE2):c.10556A>G (p.Glu3519Gly)
|
rs75146753
|
0.00004
|
|
NM_182914.3(SYNE2):c.10721A>G (p.Asn3574Ser)
|
rs755972675
|
0.00004
|
|
NM_182914.3(SYNE2):c.10844C>T (p.Pro3615Leu)
|
rs549458287
|
0.00004
|
|
NM_182914.3(SYNE2):c.11108A>G (p.Glu3703Gly)
|
rs763363520
|
0.00004
|
|
NM_182914.3(SYNE2):c.11665G>A (p.Ala3889Thr)
|
rs759802358
|
0.00004
|
|
NM_182914.3(SYNE2):c.11867T>C (p.Leu3956Ser)
|
rs746480532
|
0.00004
|
|
NM_182914.3(SYNE2):c.12151C>G (p.Gln4051Glu)
|
rs149546014
|
0.00004
|
|
NM_182914.3(SYNE2):c.12238A>G (p.Arg4080Gly)
|
rs769301000
|
0.00004
|
|
NM_182914.3(SYNE2):c.12660A>G (p.Gln4220=)
|
rs745820221
|
0.00004
|
|
NM_182914.3(SYNE2):c.12991A>T (p.Met4331Leu)
|
rs144392904
|
0.00004
|
|
NM_182914.3(SYNE2):c.13021C>G (p.Gln4341Glu)
|
rs367698099
|
0.00004
|
|
NM_182914.3(SYNE2):c.13159-7A>G
|
rs759110381
|
0.00004
|
|
NM_182914.3(SYNE2):c.13525C>T (p.Arg4509Cys)
|
rs752451899
|
0.00004
|
|
NM_182914.3(SYNE2):c.13814A>C (p.Glu4605Ala)
|
rs766721405
|
0.00004
|
|
NM_182914.3(SYNE2):c.13907G>A (p.Arg4636His)
|
rs752745004
|
0.00004
|
|
NM_182914.3(SYNE2):c.14047G>A (p.Glu4683Lys)
|
rs146157227
|
0.00004
|
|
NM_182914.3(SYNE2):c.14071A>G (p.Lys4691Glu)
|
rs143798878
|
0.00004
|
|
NM_182914.3(SYNE2):c.14239A>G (p.Met4747Val)
|
rs759983332
|
0.00004
|
|
NM_182914.3(SYNE2):c.14479C>T (p.Arg4827Cys)
|
rs146052780
|
0.00004
|
|
NM_182914.3(SYNE2):c.14827C>T (p.Leu4943Phe)
|
rs150137142
|
0.00004
|
|
NM_182914.3(SYNE2):c.15028A>G (p.Ser5010Gly)
|
rs754937863
|
0.00004
|
|
NM_182914.3(SYNE2):c.16024G>A (p.Gly5342Ser)
|
rs34541826
|
0.00004
|
|
NM_182914.3(SYNE2):c.16313A>G (p.Asp5438Gly)
|
rs374348890
|
0.00004
|
|
NM_182914.3(SYNE2):c.16671G>C (p.Lys5557Asn)
|
rs777646941
|
0.00004
|
|
NM_182914.3(SYNE2):c.17140C>T (p.Arg5714Cys)
|
rs375246083
|
0.00004
|
|
NM_182914.3(SYNE2):c.17141G>A (p.Arg5714His)
|
rs200137127
|
0.00004
|
|
NM_182914.3(SYNE2):c.17504A>G (p.Asp5835Gly)
|
rs147097998
|
0.00004
|
|
NM_182914.3(SYNE2):c.17713G>A (p.Val5905Met)
|
rs778679729
|
0.00004
|
|
NM_182914.3(SYNE2):c.17959T>C (p.Ser5987Pro)
|
rs772035517
|
0.00004
|
|
NM_182914.3(SYNE2):c.18317T>C (p.Ile6106Thr)
|
rs144624224
|
0.00004
|
|
NM_182914.3(SYNE2):c.1844T>C (p.Phe615Ser)
|
rs369877790
|
0.00004
|
|
NM_182914.3(SYNE2):c.19088A>G (p.Asn6363Ser)
|
rs199566869
|
0.00004
|
|
NM_182914.3(SYNE2):c.19153G>A (p.Glu6385Lys)
|
rs374948516
|
0.00004
|
|
NM_182914.3(SYNE2):c.1919A>G (p.Asn640Ser)
|
rs111890751
|
0.00004
|
|
NM_182914.3(SYNE2):c.19269C>T (p.Gly6423=)
|
rs145411822
|
0.00004
|
|
NM_182914.3(SYNE2):c.19478T>C (p.Met6493Thr)
|
rs138514714
|
0.00004
|
|
NM_182914.3(SYNE2):c.20045C>T (p.Ser6682Leu)
|
rs201256334
|
0.00004
|
|
NM_182914.3(SYNE2):c.20061+5G>A
|
rs774599138
|
0.00004
|
|
NM_182914.3(SYNE2):c.20206C>G (p.Leu6736Val)
|
rs779852124
|
0.00004
|
|
NM_182914.3(SYNE2):c.2023A>G (p.Ile675Val)
|
rs199854951
|
0.00004
|
|
NM_182914.3(SYNE2):c.20542C>T (p.Arg6848Cys)
|
rs201472187
|
0.00004
|
|
NM_182914.3(SYNE2):c.2296A>G (p.Met766Val)
|
rs556342048
|
0.00004
|
|
NM_182914.3(SYNE2):c.2347C>T (p.Leu783Phe)
|
rs766796829
|
0.00004
|
|
NM_182914.3(SYNE2):c.2781+5G>A
|
rs371516053
|
0.00004
|
|
NM_182914.3(SYNE2):c.2858T>A (p.Ile953Asn)
|
rs756623151
|
0.00004
|
|
NM_182914.3(SYNE2):c.2902C>T (p.Arg968Cys)
|
rs758515221
|
0.00004
|
|
NM_182914.3(SYNE2):c.2933A>G (p.Glu978Gly)
|
rs769589509
|
0.00004
|
|
NM_182914.3(SYNE2):c.3143C>T (p.Ser1048Leu)
|
rs763314715
|
0.00004
|
|
NM_182914.3(SYNE2):c.3408G>T (p.Arg1136Ser)
|
rs762347655
|
0.00004
|
|
NM_182914.3(SYNE2):c.3665G>A (p.Arg1222Gln)
|
rs370747910
|
0.00004
|
|
NM_182914.3(SYNE2):c.5294A>T (p.Glu1765Val)
|
rs558820427
|
0.00004
|
|
NM_182914.3(SYNE2):c.5423C>G (p.Thr1808Ser)
|
rs780659094
|
0.00004
|
|
NM_182914.3(SYNE2):c.5540T>G (p.Phe1847Cys)
|
rs182807926
|
0.00004
|
|
NM_182914.3(SYNE2):c.5575A>G (p.Lys1859Glu)
|
rs201327410
|
0.00004
|
|
NM_182914.3(SYNE2):c.7399G>A (p.Ala2467Thr)
|
rs752492583
|
0.00004
|
|
NM_182914.3(SYNE2):c.7481T>C (p.Ile2494Thr)
|
rs377113182
|
0.00004
|
|
NM_182914.3(SYNE2):c.7816G>A (p.Gly2606Ser)
|
rs201069405
|
0.00004
|
|
NM_182914.3(SYNE2):c.8148G>T (p.Leu2716Phe)
|
rs529012269
|
0.00004
|
|
NM_182914.3(SYNE2):c.8786G>A (p.Arg2929Lys)
|
rs1177149020
|
0.00004
|
|
NM_182914.3(SYNE2):c.9430C>T (p.Leu3144Phe)
|
rs886044254
|
0.00004
|
|
NM_182914.3(SYNE2):c.9976A>C (p.Lys3326Gln)
|
rs747991604
|
0.00004
|
|
NM_182961.4(SYNE1):c.10597C>T (p.Arg3533Cys)
|
rs776816480
|
0.00004
|
|
NM_182961.4(SYNE1):c.10658T>C (p.Leu3553Pro)
|
rs774759366
|
0.00004
|
|
NM_182961.4(SYNE1):c.11246C>T (p.Thr3749Met)
|
rs778034684
|
0.00004
|
|
NM_182961.4(SYNE1):c.11302C>T (p.Arg3768Trp)
|
rs371013745
|
0.00004
|
|
NM_182961.4(SYNE1):c.11309A>G (p.Lys3770Arg)
|
rs780693119
|
0.00004
|
|
NM_182961.4(SYNE1):c.11477A>G (p.Lys3826Arg)
|
rs76410834
|
0.00004
|
|
NM_182961.4(SYNE1):c.11506C>G (p.Gln3836Glu)
|
rs780637080
|
0.00004
|
|
NM_182961.4(SYNE1):c.11589A>C (p.Gln3863His)
|
rs190032752
|
0.00004
|
|
NM_182961.4(SYNE1):c.12007A>G (p.Lys4003Glu)
|
rs772000149
|
0.00004
|
|
NM_182961.4(SYNE1):c.12182C>T (p.Pro4061Leu)
|
rs148036239
|
0.00004
|
|
NM_182961.4(SYNE1):c.12476G>A (p.Arg4159Lys)
|
rs762119902
|
0.00004
|
|
NM_182961.4(SYNE1):c.1262C>T (p.Ala421Val)
|
rs150409035
|
0.00004
|
|
NM_182961.4(SYNE1):c.13331G>A (p.Arg4444Gln)
|
rs139075013
|
0.00004
|
|
NM_182961.4(SYNE1):c.13431G>A (p.Met4477Ile)
|
rs1007433720
|
0.00004
|
|
NM_182961.4(SYNE1):c.13553G>A (p.Arg4518His)
|
rs148248006
|
0.00004
|
|
NM_182961.4(SYNE1):c.13789G>A (p.Glu4597Lys)
|
rs371375804
|
0.00004
|
|
NM_182961.4(SYNE1):c.14291G>A (p.Arg4764Gln)
|
rs745701031
|
0.00004
|
|
NM_182961.4(SYNE1):c.1453A>G (p.Met485Val)
|
rs767978898
|
0.00004
|
|
NM_182961.4(SYNE1):c.14671A>G (p.Thr4891Ala)
|
rs534678815
|
0.00004
|
|
NM_182961.4(SYNE1):c.14890G>A (p.Glu4964Lys)
|
rs780258342
|
0.00004
|
|
NM_182961.4(SYNE1):c.14984G>A (p.Cys4995Tyr)
|
rs765800192
|
0.00004
|
|
NM_182961.4(SYNE1):c.15580C>T (p.Arg5194Cys)
|
rs757086609
|
0.00004
|
|
NM_182961.4(SYNE1):c.16025C>T (p.Thr5342Met)
|
rs202105931
|
0.00004
|
|
NM_182961.4(SYNE1):c.16229G>A (p.Arg5410Gln)
|
rs776100963
|
0.00004
|
|
NM_182961.4(SYNE1):c.16868G>A (p.Arg5623His)
|
rs753544584
|
0.00004
|
|
NM_182961.4(SYNE1):c.17140C>T (p.Arg5714Trp)
|
rs202171698
|
0.00004
|
|
NM_182961.4(SYNE1):c.17141G>A (p.Arg5714Gln)
|
rs367925174
|
0.00004
|
|
NM_182961.4(SYNE1):c.17419A>G (p.Met5807Val)
|
rs763218931
|
0.00004
|
|
NM_182961.4(SYNE1):c.17650C>T (p.Pro5884Ser)
|
rs767508394
|
0.00004
|
|
NM_182961.4(SYNE1):c.17780C>T (p.Pro5927Leu)
|
rs145085256
|
0.00004
|
|
NM_182961.4(SYNE1):c.17825G>A (p.Arg5942His)
|
rs746220387
|
0.00004
|
|
NM_182961.4(SYNE1):c.18193C>T (p.Arg6065Trp)
|
rs200209279
|
0.00004
|
|
NM_182961.4(SYNE1):c.1861A>G (p.Thr621Ala)
|
rs146618884
|
0.00004
|
|
NM_182961.4(SYNE1):c.18871G>A (p.Ala6291Thr)
|
rs143594709
|
0.00004
|
|
NM_182961.4(SYNE1):c.19228G>A (p.Glu6410Lys)
|
rs143554730
|
0.00004
|
|
NM_182961.4(SYNE1):c.19438A>C (p.Lys6480Gln)
|
rs774558249
|
0.00004
|
|
NM_182961.4(SYNE1):c.19555G>A (p.Val6519Ile)
|
rs563568189
|
0.00004
|
|
NM_182961.4(SYNE1):c.20449C>T (p.Arg6817Trp)
|
rs140903556
|
0.00004
|
|
NM_182961.4(SYNE1):c.20692G>A (p.Val6898Ile)
|
rs769943110
|
0.00004
|
|
NM_182961.4(SYNE1):c.21095A>G (p.Gln7032Arg)
|
rs752508132
|
0.00004
|
|
NM_182961.4(SYNE1):c.21249G>T (p.Gln7083His)
|
rs777155965
|
0.00004
|
|
NM_182961.4(SYNE1):c.21560T>C (p.Leu7187Ser)
|
rs778441411
|
0.00004
|
|
NM_182961.4(SYNE1):c.21613G>A (p.Val7205Met)
|
rs377449974
|
0.00004
|
|
NM_182961.4(SYNE1):c.22520G>A (p.Arg7507His)
|
rs776733924
|
0.00004
|
|
NM_182961.4(SYNE1):c.22547T>C (p.Ile7516Thr)
|
rs190781696
|
0.00004
|
|
NM_182961.4(SYNE1):c.23051A>T (p.Asp7684Val)
|
rs139077054
|
0.00004
|
|
NM_182961.4(SYNE1):c.23962A>G (p.Met7988Val)
|
rs746456193
|
0.00004
|
|
NM_182961.4(SYNE1):c.24338T>G (p.Phe8113Cys)
|
rs769930534
|
0.00004
|
|
NM_182961.4(SYNE1):c.24652G>A (p.Asp8218Asn)
|
rs267600861
|
0.00004
|
|
NM_182961.4(SYNE1):c.24717C>G (p.His8239Gln)
|
rs201548223
|
0.00004
|
|
NM_182961.4(SYNE1):c.24797G>A (p.Arg8266Gln)
|
rs200137670
|
0.00004
|
|
NM_182961.4(SYNE1):c.24878G>A (p.Arg8293Gln)
|
rs369073682
|
0.00004
|
|
NM_182961.4(SYNE1):c.24977-1719A>G
|
rs202030113
|
0.00004
|
|
NM_182961.4(SYNE1):c.25069C>T (p.Arg8357Cys)
|
rs755199419
|
0.00004
|
|
NM_182961.4(SYNE1):c.25213G>T (p.Val8405Phe)
|
rs757463285
|
0.00004
|
|
NM_182961.4(SYNE1):c.25241C>T (p.Thr8414Met)
|
rs759512753
|
0.00004
|
|
NM_182961.4(SYNE1):c.25916G>A (p.Gly8639Glu)
|
rs191807870
|
0.00004
|
|
NM_182961.4(SYNE1):c.26279G>A (p.Gly8760Glu)
|
rs747635401
|
0.00004
|
|
NM_182961.4(SYNE1):c.3186+4C>T
|
rs747984490
|
0.00004
|
|
NM_182961.4(SYNE1):c.3481G>A (p.Gly1161Arg)
|
rs149415204
|
0.00004
|
|
NM_182961.4(SYNE1):c.3497C>T (p.Ala1166Val)
|
rs765122984
|
0.00004
|
|
NM_182961.4(SYNE1):c.3647C>T (p.Ala1216Val)
|
rs200629713
|
0.00004
|
|
NM_182961.4(SYNE1):c.3933C>A (p.His1311Gln)
|
rs774093065
|
0.00004
|
|
NM_182961.4(SYNE1):c.3936G>C (p.Glu1312Asp)
|
rs200763530
|
0.00004
|
|
NM_182961.4(SYNE1):c.3952G>C (p.Glu1318Gln)
|
rs201144728
|
0.00004
|
|
NM_182961.4(SYNE1):c.4075A>G (p.Thr1359Ala)
|
rs377718960
|
0.00004
|
|
NM_182961.4(SYNE1):c.4274A>T (p.Glu1425Val)
|
rs767783076
|
0.00004
|
|
NM_182961.4(SYNE1):c.4552G>C (p.Glu1518Gln)
|
rs760544014
|
0.00004
|
|
NM_182961.4(SYNE1):c.509G>A (p.Arg170Gln)
|
rs779239788
|
0.00004
|
|
NM_182961.4(SYNE1):c.5230G>A (p.Glu1744Lys)
|
rs540091060
|
0.00004
|
|
NM_182961.4(SYNE1):c.5413C>T (p.Arg1805Trp)
|
rs763781396
|
0.00004
|
|
NM_182961.4(SYNE1):c.5417A>G (p.His1806Arg)
|
rs779891217
|
0.00004
|
|
NM_182961.4(SYNE1):c.590G>A (p.Gly197Glu)
|
rs150249753
|
0.00004
|
|
NM_182961.4(SYNE1):c.6289G>C (p.Ala2097Pro)
|
rs375773340
|
0.00004
|
|
NM_182961.4(SYNE1):c.7064A>G (p.Asn2355Ser)
|
rs377180714
|
0.00004
|
|
NM_182961.4(SYNE1):c.8339T>C (p.Leu2780Pro)
|
rs757960938
|
0.00004
|
|
NM_182961.4(SYNE1):c.862G>A (p.Ala288Thr)
|
rs770907182
|
0.00004
|
|
NM_182961.4(SYNE1):c.888+4G>C
|
rs749258298
|
0.00004
|
|
NM_000018.4(ACADVL):c.1197G>C (p.Met399Ile)
|
rs767552054
|
0.00003
|
|
NM_000018.4(ACADVL):c.1711G>A (p.Gly571Arg)
|
rs398123085
|
0.00003
|
|
NM_000018.4(ACADVL):c.1858G>A (p.Ala620Thr)
|
rs965557488
|
0.00003
|
|
NM_000018.4(ACADVL):c.1931G>A (p.Arg644Gln)
|
rs774762384
|
0.00003
|
|
NM_000018.4(ACADVL):c.277+6G>T
|
rs776422793
|
0.00003
|
|
NM_000018.4(ACADVL):c.298C>G (p.Gln100Glu)
|
rs750675692
|
0.00003
|
|
NM_000018.4(ACADVL):c.343G>C (p.Glu115Gln)
|
rs370146676
|
0.00003
|
|
NM_000018.4(ACADVL):c.467G>C (p.Cys156Ser)
|
rs139973845
|
0.00003
|
|
NM_000018.4(ACADVL):c.992A>C (p.Lys331Thr)
|
rs727503792
|
0.00003
|
|
NM_000023.4(SGCA):c.1091A>G (p.Asn364Ser)
|
rs756912039
|
0.00003
|
|
NM_000023.4(SGCA):c.1133C>T (p.Ala378Val)
|
rs751466306
|
0.00003
|
|
NM_000023.4(SGCA):c.307A>G (p.Ile103Val)
|
rs370819630
|
0.00003
|
|
NM_000023.4(SGCA):c.551G>A (p.Arg184His)
|
rs142169382
|
0.00003
|
|
NM_000023.4(SGCA):c.58G>T (p.Asp20Tyr)
|
rs759284746
|
0.00003
|
|
NM_000116.5(TAFAZZIN):c.27C>G (p.Phe9Leu)
|
rs1223065368
|
0.00003
|
|
NM_000116.5(TAFAZZIN):c.674C>T (p.Pro225Leu)
|
rs375151766
|
0.00003
|
|
NM_000116.5(TAFAZZIN):c.758G>A (p.Arg253Gln)
|
rs782653725
|
0.00003
|
|
NM_000116.5(TAFAZZIN):c.763G>A (p.Glu255Lys)
|
rs782498694
|
0.00003
|
|
NM_000117.3(EMD):c.110A>T (p.Lys37Met)
|
rs1085307681
|
0.00003
|
|
NM_000117.3(EMD):c.361G>A (p.Val121Met)
|
rs2067880161
|
0.00003
|
|
NM_000117.3(EMD):c.412G>A (p.Asp138Asn)
|
rs782737897
|
0.00003
|
|
NM_000117.3(EMD):c.502C>T (p.Arg168Cys)
|
rs886044839
|
0.00003
|
|
NM_000126.4(ETFA):c.215G>A (p.Gly72Asp)
|
rs758004001
|
0.00003
|
|
NM_000126.4(ETFA):c.728C>G (p.Ala243Gly)
|
rs202121622
|
0.00003
|
|
NM_000152.5(GAA):c.1153C>T (p.Arg385Cys)
|
rs767821988
|
0.00003
|
|
NM_000152.5(GAA):c.1264C>T (p.Arg422Trp)
|
rs776704385
|
0.00003
|
|
NM_000152.5(GAA):c.1417G>A (p.Gly473Ser)
|
rs201409613
|
0.00003
|
|
NM_000152.5(GAA):c.1418G>C (p.Gly473Ala)
|
rs886043976
|
0.00003
|
|
NM_000152.5(GAA):c.1661C>T (p.Ala554Val)
|
rs772260861
|
0.00003
|
|
NM_000152.5(GAA):c.17C>T (p.Pro6Leu)
|
rs771409180
|
0.00003
|
|
NM_000152.5(GAA):c.1849G>A (p.Val617Met)
|
rs767977395
|
0.00003
|
|
NM_000152.5(GAA):c.1909C>A (p.Leu637Met)
|
rs763301606
|
0.00003
|
|
NM_000152.5(GAA):c.1930G>T (p.Ala644Ser)
|
rs752735168
|
0.00003
|
|
NM_000152.5(GAA):c.2069C>T (p.Pro690Leu)
|
rs532624326
|
0.00003
|
|
NM_000152.5(GAA):c.2365C>G (p.Pro789Ala)
|
rs201485261
|
0.00003
|
|
NM_000152.5(GAA):c.2656G>A (p.Val886Met)
|
rs372802420
|
0.00003
|
|
NM_000152.5(GAA):c.2758G>A (p.Gly920Ser)
|
rs375021198
|
0.00003
|
|
NM_000152.5(GAA):c.2842C>T (p.Leu948Phe)
|
rs769312350
|
0.00003
|
|
NM_000152.5(GAA):c.292A>T (p.Ile98Phe)
|
rs745963730
|
0.00003
|
|
NM_000152.5(GAA):c.319G>A (p.Gly107Ser)
|
rs151323405
|
0.00003
|
|
NM_000152.5(GAA):c.31C>T (p.Arg11Trp)
|
rs772394815
|
0.00003
|
|
NM_000152.5(GAA):c.426C>A (p.Ser142Arg)
|
rs762255493
|
0.00003
|
|
NM_000152.5(GAA):c.686G>A (p.Arg229His)
|
rs776509432
|
0.00003
|
|
NM_000152.5(GAA):c.767A>G (p.Tyr256Cys)
|
rs200509552
|
0.00003
|
|
NM_000182.5(HADHA):c.1453G>T (p.Ala485Ser)
|
rs958717402
|
0.00003
|
|
NM_000231.3(SGCG):c.197C>A (p.Ala66Glu)
|
rs752603127
|
0.00003
|
|
NM_000232.5(SGCB):c.191T>C (p.Leu64Ser)
|
rs747795143
|
0.00003
|
|
NM_000232.5(SGCB):c.68G>A (p.Arg23His)
|
rs746363403
|
0.00003
|
|
NM_000232.5(SGCB):c.752C>T (p.Ala251Val)
|
rs146111013
|
0.00003
|
|
NM_000256.3(MYBPC3):c.1021G>A (p.Gly341Ser)
|
rs397515881
|
0.00003
|
|
NM_000256.3(MYBPC3):c.103C>T (p.Arg35Trp)
|
rs727504249
|
0.00003
|
|
NM_000256.3(MYBPC3):c.1072G>A (p.Asp358Asn)
|
rs746267533
|
0.00003
|
|
NM_000256.3(MYBPC3):c.121C>T (p.Arg41Cys)
|
rs373638535
|
0.00003
|
|
NM_000256.3(MYBPC3):c.1243A>C (p.Ile415Leu)
|
rs1269517446
|
0.00003
|
|
NM_000256.3(MYBPC3):c.1601C>T (p.Ala534Val)
|
rs374349666
|
0.00003
|
|
NM_000256.3(MYBPC3):c.1670G>A (p.Gly557Asp)
|
rs730880549
|
0.00003
|
|
NM_000256.3(MYBPC3):c.1816G>A (p.Val606Ile)
|
rs368482358
|
0.00003
|
|
NM_000256.3(MYBPC3):c.2063C>A (p.Thr688Lys)
|
rs3729946
|
0.00003
|
|
NM_000256.3(MYBPC3):c.2125G>A (p.Asp709Asn)
|
rs886039029
|
0.00003
|
|
NM_000256.3(MYBPC3):c.2161A>T (p.Thr721Ser)
|
rs768993308
|
0.00003
|
|
NM_000256.3(MYBPC3):c.2198G>A (p.Arg733His)
|
rs534345197
|
0.00003
|
|
NM_000256.3(MYBPC3):c.223G>A (p.Asp75Asn)
|
rs375471260
|
0.00003
|
|
NM_000256.3(MYBPC3):c.239C>G (p.Ala80Gly)
|
rs1410583905
|
0.00003
|
|
NM_000256.3(MYBPC3):c.2562G>A (p.Met854Ile)
|
rs730880572
|
0.00003
|
|
NM_000256.3(MYBPC3):c.2599A>G (p.Ile867Val)
|
rs768339148
|
0.00003
|
|
NM_000256.3(MYBPC3):c.2624A>T (p.His875Leu)
|
rs774889182
|
0.00003
|
|
NM_000256.3(MYBPC3):c.263T>A (p.Val88Asp)
|
rs730880583
|
0.00003
|
|
NM_000256.3(MYBPC3):c.2683C>T (p.Arg895Cys)
|
rs374976635
|
0.00003
|
|
NM_000256.3(MYBPC3):c.2828G>A (p.Arg943Gln)
|
rs397515986
|
0.00003
|
|
NM_000256.3(MYBPC3):c.2908C>T (p.Arg970Trp)
|
rs730880138
|
0.00003
|
|
NM_000256.3(MYBPC3):c.2909G>A (p.Arg970Gln)
|
rs727504346
|
0.00003
|
|
NM_000256.3(MYBPC3):c.305C>T (p.Pro102Leu)
|
rs730880610
|
0.00003
|
|
NM_000256.3(MYBPC3):c.3154A>G (p.Met1052Val)
|
rs730880589
|
0.00003
|
|
NM_000256.3(MYBPC3):c.3229G>T (p.Ala1077Ser)
|
rs397516009
|
0.00003
|
|
NM_000256.3(MYBPC3):c.3343G>A (p.Val1115Ile)
|
rs531189495
|
0.00003
|
|
NM_000256.3(MYBPC3):c.3463A>G (p.Lys1155Glu)
|
rs377352427
|
0.00003
|
|
NM_000256.3(MYBPC3):c.3470C>T (p.Pro1157Leu)
|
rs373304680
|
0.00003
|
|
NM_000256.3(MYBPC3):c.373G>T (p.Ala125Ser)
|
rs370958401
|
0.00003
|
|
NM_000256.3(MYBPC3):c.3779G>A (p.Gly1260Asp)
|
rs730880606
|
0.00003
|
|
NM_000256.3(MYBPC3):c.405A>G (p.Lys135=)
|
rs727504318
|
0.00003
|
|
NM_000256.3(MYBPC3):c.437C>T (p.Thr146Ile)
|
rs780458215
|
0.00003
|
|
NM_000256.3(MYBPC3):c.659A>G (p.Tyr220Cys)
|
rs779693951
|
0.00003
|
|
NM_000256.3(MYBPC3):c.667G>A (p.Glu223Lys)
|
rs397516069
|
0.00003
|
|
NM_000256.3(MYBPC3):c.67G>A (p.Ala23Thr)
|
rs758044508
|
0.00003
|
|
NM_000256.3(MYBPC3):c.758A>G (p.Asn253Ser)
|
rs727503214
|
0.00003
|
|
NM_000256.3(MYBPC3):c.841C>T (p.Arg281Trp)
|
rs371711564
|
0.00003
|
|
NM_000256.3(MYBPC3):c.852-14G>T
|
rs751278539
|
0.00003
|
|
NM_000256.3(MYBPC3):c.88G>A (p.Glu30Lys)
|
rs761079937
|
0.00003
|
|
NM_000256.3(MYBPC3):c.927-20G>A
|
rs1417608603
|
0.00003
|
|
NM_000256.3(MYBPC3):c.994G>A (p.Glu332Lys)
|
rs397516086
|
0.00003
|
|
NM_000257.4(MYH7):c.1000-1G>A
|
rs113392527
|
0.00003
|
|
NM_000257.4(MYH7):c.161G>A (p.Arg54Gln)
|
rs397516117
|
0.00003
|
|
NM_000257.4(MYH7):c.166G>A (p.Gly56Ser)
|
rs759500431
|
0.00003
|
|
NM_000257.4(MYH7):c.209C>A (p.Thr70Asn)
|
rs1327007939
|
0.00003
|
|
NM_000257.4(MYH7):c.2599G>A (p.Glu867Lys)
|
rs558673680
|
0.00003
|
|
NM_000257.4(MYH7):c.3100-2A>C
|
rs759013925
|
0.00003
|
|
NM_000257.4(MYH7):c.3407G>T (p.Arg1136Leu)
|
rs730880905
|
0.00003
|
|
NM_000257.4(MYH7):c.3779G>A (p.Arg1260Gln)
|
rs747308839
|
0.00003
|
|
NM_000257.4(MYH7):c.4868A>G (p.Asn1623Ser)
|
rs1306407579
|
0.00003
|
|
NM_000257.4(MYH7):c.4894G>A (p.Ala1632Thr)
|
rs565663412
|
0.00003
|
|
NM_000257.4(MYH7):c.49C>T (p.Arg17Cys)
|
rs45511396
|
0.00003
|
|
NM_000257.4(MYH7):c.5088G>C (p.Glu1696Asp)
|
rs373219734
|
0.00003
|
|
NM_000257.4(MYH7):c.5471A>G (p.Asn1824Ser)
|
rs760218400
|
0.00003
|
|
NM_000257.4(MYH7):c.5689C>T (p.Arg1897Cys)
|
rs756655803
|
0.00003
|
|
NM_000257.4(MYH7):c.639+5G>T
|
rs765724983
|
0.00003
|
|
NM_000257.4(MYH7):c.737A>G (p.Lys246Arg)
|
rs730880851
|
0.00003
|
|
NM_000258.3(MYL3):c.245C>T (p.Ala82Val)
|
rs752549068
|
0.00003
|
|
NM_000258.3(MYL3):c.91C>T (p.Arg31Cys)
|
rs377026344
|
0.00003
|
|
NM_000337.6(SGCD):c.458A>G (p.Asp153Gly)
|
rs752000538
|
0.00003
|
|
NM_000337.6(SGCD):c.494G>A (p.Arg165Gln)
|
rs727503423
|
0.00003
|
|
NM_000337.6(SGCD):c.593G>A (p.Arg198Gln)
|
rs750459196
|
0.00003
|
|
NM_000337.6(SGCD):c.697G>A (p.Glu233Lys)
|
rs768979513
|
0.00003
|
|
NM_000337.6(SGCD):c.716C>T (p.Ala239Val)
|
rs377153196
|
0.00003
|
|
NM_000337.6(SGCD):c.731C>T (p.Pro244Leu)
|
rs375159661
|
0.00003
|
|
NM_000337.6(SGCD):c.767C>T (p.Thr256Met)
|
rs578056399
|
0.00003
|
|
NM_000363.5(TNNI3):c.108+4G>T
|
rs878853954
|
0.00003
|
|
NM_000363.5(TNNI3):c.304G>A (p.Ala102Thr)
|
rs374618872
|
0.00003
|
|
NM_000371.4(TTR):c.370C>T (p.Arg124Cys)
|
rs745834030
|
0.00003
|
|
NM_000371.4(TTR):c.431A>G (p.Asn144Ser)
|
rs144965179
|
0.00003
|
|
NM_000432.4(MYL2):c.49G>A (p.Val17Met)
|
rs730880943
|
0.00003
|
|
NM_001005242.3(PKP2):c.1404T>A (p.Asn468Lys)
|
rs1208347768
|
0.00003
|
|
NM_001005242.3(PKP2):c.146A>G (p.Gln49Arg)
|
rs763492084
|
0.00003
|
|
NM_001005242.3(PKP2):c.1519G>A (p.Asp507Asn)
|
rs763427502
|
0.00003
|
|
NM_001005242.3(PKP2):c.1528A>G (p.Ile510Val)
|
rs397517002
|
0.00003
|
|
NM_001005242.3(PKP2):c.1679C>T (p.Thr560Met)
|
rs373360192
|
0.00003
|
|
NM_001005242.3(PKP2):c.1796A>G (p.Lys599Arg)
|
rs533659697
|
0.00003
|
|
NM_001005242.3(PKP2):c.1945A>G (p.Ser649Gly)
|
rs375295635
|
0.00003
|
|
NM_001005242.3(PKP2):c.1948G>A (p.Val650Ile)
|
rs747525514
|
0.00003
|
|
NM_001005242.3(PKP2):c.1968A>T (p.Glu656Asp)
|
rs879210282
|
0.00003
|
|
NM_001005242.3(PKP2):c.19C>T (p.Pro7Ser)
|
rs764645176
|
0.00003
|
|
NM_001005242.3(PKP2):c.2081T>G (p.Leu694Arg)
|
rs794729115
|
0.00003
|
|
NM_001005242.3(PKP2):c.223G>A (p.Gly75Arg)
|
rs765852160
|
0.00003
|
|
NM_001005242.3(PKP2):c.236G>A (p.Arg79Gln)
|
rs766802880
|
0.00003
|
|
NM_001005242.3(PKP2):c.2372A>G (p.Lys791Arg)
|
rs372729739
|
0.00003
|
|
NM_001005242.3(PKP2):c.2405C>T (p.Ser802Phe)
|
rs768808114
|
0.00003
|
|
NM_001005242.3(PKP2):c.259G>C (p.Val87Leu)
|
rs750028032
|
0.00003
|
|
NM_001005242.3(PKP2):c.293T>C (p.Val98Ala)
|
rs775434969
|
0.00003
|
|
NM_001005242.3(PKP2):c.611G>A (p.Arg204His)
|
rs755215178
|
0.00003
|
|
NM_001035.3(RYR2):c.1092A>C (p.Gln364His)
|
rs763183698
|
0.00003
|
|
NM_001035.3(RYR2):c.11497G>A (p.Asp3833Asn)
|
rs768711283
|
0.00003
|
|
NM_001035.3(RYR2):c.1154G>C (p.Gly385Ala)
|
rs373148638
|
0.00003
|
|
NM_001035.3(RYR2):c.1165C>T (p.Arg389Cys)
|
rs376135032
|
0.00003
|
|
NM_001035.3(RYR2):c.1172C>G (p.Ala391Gly)
|
rs374306538
|
0.00003
|
|
NM_001035.3(RYR2):c.12241G>A (p.Glu4081Lys)
|
rs763004638
|
0.00003
|
|
NM_001035.3(RYR2):c.12658G>A (p.Glu4220Lys)
|
rs753433827
|
0.00003
|
|
NM_001035.3(RYR2):c.1324G>T (p.Ala442Ser)
|
rs747344666
|
0.00003
|
|
NM_001035.3(RYR2):c.13406G>C (p.Arg4469Thr)
|
rs759882217
|
0.00003
|
|
NM_001035.3(RYR2):c.13666G>A (p.Ala4556Thr)
|
rs189345192
|
0.00003
|
|
NM_001035.3(RYR2):c.1789A>G (p.Ile597Val)
|
rs770408945
|
0.00003
|
|
NM_001035.3(RYR2):c.2203+4C>T
|
rs371445192
|
0.00003
|
|
NM_001035.3(RYR2):c.2617G>A (p.Val873Met)
|
rs369248015
|
0.00003
|
|
NM_001035.3(RYR2):c.274-3C>T
|
rs776347774
|
0.00003
|
|
NM_001035.3(RYR2):c.294+3A>G
|
rs1321804058
|
0.00003
|
|
NM_001035.3(RYR2):c.2951G>A (p.Ser984Asn)
|
rs730880188
|
0.00003
|
|
NM_001035.3(RYR2):c.295A>C (p.Lys99Gln)
|
rs1172697175
|
0.00003
|
|
NM_001035.3(RYR2):c.3460C>T (p.Arg1154Cys)
|
rs765617616
|
0.00003
|
|
NM_001035.3(RYR2):c.3827C>T (p.Thr1276Ile)
|
rs762899950
|
0.00003
|
|
NM_001035.3(RYR2):c.4802A>G (p.Asn1601Ser)
|
rs1474971861
|
0.00003
|
|
NM_001035.3(RYR2):c.4829G>A (p.Arg1610Gln)
|
rs764687833
|
0.00003
|
|
NM_001035.3(RYR2):c.5011C>T (p.Arg1671Trp)
|
rs747404408
|
0.00003
|
|
NM_001035.3(RYR2):c.5021A>G (p.His1674Arg)
|
rs771414167
|
0.00003
|
|
NM_001035.3(RYR2):c.5066T>C (p.Ile1689Thr)
|
rs763907583
|
0.00003
|
|
NM_001035.3(RYR2):c.5278C>T (p.Arg1760Trp)
|
rs776550479
|
0.00003
|
|
NM_001035.3(RYR2):c.5371A>G (p.Thr1791Ala)
|
rs1025023837
|
0.00003
|
|
NM_001035.3(RYR2):c.5761C>T (p.Arg1921Trp)
|
rs760010432
|
0.00003
|
|
NM_001035.3(RYR2):c.5762G>A (p.Arg1921Gln)
|
rs370568809
|
0.00003
|
|
NM_001035.3(RYR2):c.6158A>G (p.Lys2053Arg)
|
rs771590345
|
0.00003
|
|
NM_001035.3(RYR2):c.6232C>T (p.Pro2078Ser)
|
rs780993255
|
0.00003
|
|
NM_001035.3(RYR2):c.6772C>T (p.Arg2258Cys)
|
rs757350594
|
0.00003
|
|
NM_001035.3(RYR2):c.719A>G (p.His240Arg)
|
rs369512347
|
0.00003
|
|
NM_001035.3(RYR2):c.7342+4A>T
|
rs771358777
|
0.00003
|
|
NM_001035.3(RYR2):c.7493C>T (p.Ala2498Val)
|
rs374191985
|
0.00003
|
|
NM_001035.3(RYR2):c.8041A>T (p.Met2681Leu)
|
rs768547151
|
0.00003
|
|
NM_001035.3(RYR2):c.8262G>C (p.Gln2754His)
|
rs773748242
|
0.00003
|
|
NM_001035.3(RYR2):c.953A>G (p.Asp318Gly)
|
rs1268335647
|
0.00003
|
|
NM_001103.4(ACTN2):c.1107G>A (p.Ser369=)
|
rs369218950
|
0.00003
|
|
NM_001103.4(ACTN2):c.1507G>T (p.Ala503Ser)
|
rs1057460296
|
0.00003
|
|
NM_001103.4(ACTN2):c.1541T>C (p.Ile514Thr)
|
rs371954663
|
0.00003
|
|
NM_001103.4(ACTN2):c.1658G>C (p.Ser553Thr)
|
rs778767257
|
0.00003
|
|
NM_001103.4(ACTN2):c.1919G>A (p.Arg640His)
|
rs772909106
|
0.00003
|
|
NM_001103.4(ACTN2):c.1972G>C (p.Glu658Gln)
|
rs374135486
|
0.00003
|
|
NM_001103.4(ACTN2):c.2063A>G (p.Tyr688Cys)
|
rs145248415
|
0.00003
|
|
NM_001103.4(ACTN2):c.541A>G (p.Lys181Glu)
|
rs779350391
|
0.00003
|
|
NM_001103.4(ACTN2):c.556C>T (p.Leu186Phe)
|
rs371930065
|
0.00003
|
|
NM_001105206.3(LAMA4):c.1057G>A (p.Val353Ile)
|
rs781919461
|
0.00003
|
|
NM_001105206.3(LAMA4):c.107T>C (p.Ile36Thr)
|
rs70940809
|
0.00003
|
|
NM_001105206.3(LAMA4):c.1275G>T (p.Lys425Asn)
|
rs782618132
|
0.00003
|
|
NM_001105206.3(LAMA4):c.1411T>C (p.Phe471Leu)
|
rs782067046
|
0.00003
|
|
NM_001105206.3(LAMA4):c.1444A>G (p.Asn482Asp)
|
rs782319667
|
0.00003
|
|
NM_001105206.3(LAMA4):c.2635G>C (p.Asp879His)
|
rs371253565
|
0.00003
|
|
NM_001105206.3(LAMA4):c.2912C>T (p.Ser971Phe)
|
rs781856644
|
0.00003
|
|
NM_001105206.3(LAMA4):c.3161G>A (p.Gly1054Asp)
|
rs782592337
|
0.00003
|
|
NM_001105206.3(LAMA4):c.3256G>A (p.Gly1086Ser)
|
rs139101294
|
0.00003
|
|
NM_001105206.3(LAMA4):c.3557+6G>C
|
rs782019593
|
0.00003
|
|
NM_001105206.3(LAMA4):c.3697-3C>T
|
rs536295629
|
0.00003
|
|
NM_001105206.3(LAMA4):c.40T>C (p.Trp14Arg)
|
rs782293373
|
0.00003
|
|
NM_001105206.3(LAMA4):c.4235T>C (p.Leu1412Pro)
|
rs376369192
|
0.00003
|
|
NM_001105206.3(LAMA4):c.4409A>T (p.Tyr1470Phe)
|
rs1554326304
|
0.00003
|
|
NM_001105206.3(LAMA4):c.5254A>G (p.Asn1752Asp)
|
rs371370857
|
0.00003
|
|
NM_001105206.3(LAMA4):c.572G>A (p.Gly191Glu)
|
rs782010849
|
0.00003
|
|
NM_001105206.3(LAMA4):c.719-2A>G
|
rs863223691
|
0.00003
|
|
NM_001105206.3(LAMA4):c.964A>C (p.Lys322Gln)
|
rs1375382054
|
0.00003
|
|
NM_001122630.2(CDKN1C):c.112C>T (p.Arg38Cys)
|
rs749713233
|
0.00003
|
|
NM_001122630.2(CDKN1C):c.317C>G (p.Pro106Arg)
|
rs945890937
|
0.00003
|
|
NM_001122630.2(CDKN1C):c.340T>C (p.Ser114Pro)
|
rs1319558011
|
0.00003
|
|
NM_001122630.2(CDKN1C):c.361G>A (p.Ala121Thr)
|
rs1479013685
|
0.00003
|
|
NM_001122630.2(CDKN1C):c.815C>T (p.Ala272Val)
|
rs776541692
|
0.00003
|
|
NM_001130965.3(SUN1):c.1025C>T (p.Thr342Met)
|
rs544208812
|
0.00003
|
|
NM_001130965.3(SUN1):c.1420A>C (p.Thr474Pro)
|
rs781596220
|
0.00003
|
|
NM_001130965.3(SUN1):c.1903G>A (p.Glu635Lys)
|
rs376317036
|
0.00003
|
|
NM_001130965.3(SUN1):c.386C>T (p.Thr129Ile)
|
rs199937447
|
0.00003
|
|
NM_001134363.3(RBM20):c.1429G>T (p.Asp477Tyr)
|
rs1004982001
|
0.00003
|
|
NM_001134363.3(RBM20):c.1920C>A (p.Ser640Arg)
|
rs1439106449
|
0.00003
|
|
NM_001134363.3(RBM20):c.1934C>T (p.Pro645Leu)
|
rs776297244
|
0.00003
|
|
NM_001134363.3(RBM20):c.3023G>C (p.Arg1008Pro)
|
rs886038858
|
0.00003
|
|
NM_001134363.3(RBM20):c.3314C>T (p.Pro1105Leu)
|
rs1241224023
|
0.00003
|
|
NM_001134363.3(RBM20):c.408A>G (p.Gln136=)
|
rs770818336
|
0.00003
|
|
NM_001134363.3(RBM20):c.563A>G (p.Asn188Ser)
|
rs1041725339
|
0.00003
|
|
NM_001159699.2(FHL1):c.248G>A (p.Arg83His)
|
rs745544703
|
0.00003
|
|
NM_001159699.2(FHL1):c.253G>A (p.Ala85Thr)
|
rs139625615
|
0.00003
|
|
NM_001159699.2(FHL1):c.340T>A (p.Ser114Thr)
|
rs756434530
|
0.00003
|
|
NM_001159699.2(FHL1):c.379+4C>T
|
rs769453769
|
0.00003
|
|
NM_001159699.2(FHL1):c.832A>G (p.Lys278Glu)
|
rs749265329
|
0.00003
|
|
NM_001161403.3(LIMS2):c.11+1305G>A
|
rs991541495
|
0.00003
|
|
NM_001161403.3(LIMS2):c.181C>T (p.Arg61Trp)
|
rs975509585
|
0.00003
|
|
NM_001161403.3(LIMS2):c.281A>G (p.Asn94Ser)
|
rs766178392
|
0.00003
|
|
NM_001161403.3(LIMS2):c.433C>G (p.Leu145Val)
|
rs746614706
|
0.00003
|
|
NM_001161403.3(LIMS2):c.509+3A>T
|
rs746495081
|
0.00003
|
|
NM_001161403.3(LIMS2):c.535G>A (p.Glu179Lys)
|
rs144449664
|
0.00003
|
|
NM_001161403.3(LIMS2):c.628G>A (p.Val210Ile)
|
rs575987494
|
0.00003
|
|
NM_001232.4(CASQ2):c.141G>C (p.Lys47Asn)
|
rs1553197917
|
0.00003
|
|
NM_001232.4(CASQ2):c.175C>T (p.Pro59Ser)
|
rs866858282
|
0.00003
|
|
NM_001232.4(CASQ2):c.234+3A>G
|
rs727502909
|
0.00003
|
|
NM_001232.4(CASQ2):c.491A>G (p.Tyr164Cys)
|
rs72554062
|
0.00003
|
|
NM_001232.4(CASQ2):c.650A>G (p.Tyr217Cys)
|
rs373227317
|
0.00003
|
|
NM_001232.4(CASQ2):c.752G>A (p.Arg251His)
|
rs200265771
|
0.00003
|
|
NM_001232.4(CASQ2):c.878G>A (p.Arg293Gln)
|
rs377691566
|
0.00003
|
|
NM_001232.4(CASQ2):c.943G>A (p.Val315Ile)
|
rs771188512
|
0.00003
|
|
NM_001232.4(CASQ2):c.979T>C (p.Phe327Leu)
|
rs976749091
|
0.00003
|
|
NM_001267550.2(TTN):c.100390G>A (p.Glu33464Lys)
|
rs374920916
|
0.00003
|
|
NM_001267550.2(TTN):c.10046C>T (p.Thr3349Ile)
|
rs727503678
|
0.00003
|
|
NM_001267550.2(TTN):c.100829G>A (p.Gly33610Asp)
|
rs373754986
|
0.00003
|
|
NM_001267550.2(TTN):c.101040G>T (p.Lys33680Asn)
|
rs776913696
|
0.00003
|
|
NM_001267550.2(TTN):c.101108G>A (p.Arg33703Gln)
|
rs576025689
|
0.00003
|
|
NM_001267550.2(TTN):c.102105T>A (p.Asp34035Glu)
|
rs370647845
|
0.00003
|
|
NM_001267550.2(TTN):c.102125T>C (p.Ile34042Thr)
|
rs373173599
|
0.00003
|
|
NM_001267550.2(TTN):c.102257G>C (p.Arg34086Thr)
|
rs569650065
|
0.00003
|
|
NM_001267550.2(TTN):c.102752T>A (p.Met34251Lys)
|
rs750864230
|
0.00003
|
|
NM_001267550.2(TTN):c.102790C>T (p.Leu34264Phe)
|
rs773984912
|
0.00003
|
|
NM_001267550.2(TTN):c.102823G>A (p.Val34275Ile)
|
rs879063086
|
0.00003
|
|
NM_001267550.2(TTN):c.103364G>A (p.Arg34455His)
|
rs756023873
|
0.00003
|
|
NM_001267550.2(TTN):c.103391A>C (p.Lys34464Thr)
|
rs1559023019
|
0.00003
|
|
NM_001267550.2(TTN):c.103486A>G (p.Thr34496Ala)
|
rs183912990
|
0.00003
|
|
NM_001267550.2(TTN):c.103535C>T (p.Pro34512Leu)
|
rs762629564
|
0.00003
|
|
NM_001267550.2(TTN):c.103679A>G (p.Lys34560Arg)
|
rs544590023
|
0.00003
|
|
NM_001267550.2(TTN):c.103829G>A (p.Arg34610His)
|
rs550047610
|
0.00003
|
|
NM_001267550.2(TTN):c.103847G>C (p.Arg34616Thr)
|
rs573782418
|
0.00003
|
|
NM_001267550.2(TTN):c.103906C>T (p.Arg34636Cys)
|
rs768575577
|
0.00003
|
|
NM_001267550.2(TTN):c.103946G>A (p.Arg34649Gln)
|
rs397517788
|
0.00003
|
|
NM_001267550.2(TTN):c.104027C>G (p.Thr34676Arg)
|
rs761644963
|
0.00003
|
|
NM_001267550.2(TTN):c.104246G>A (p.Arg34749Gln)
|
rs771716923
|
0.00003
|
|
NM_001267550.2(TTN):c.104359A>G (p.Lys34787Glu)
|
rs769788281
|
0.00003
|
|
NM_001267550.2(TTN):c.104385G>A (p.Lys34795=)
|
rs397517790
|
0.00003
|
|
NM_001267550.2(TTN):c.104734G>A (p.Glu34912Lys)
|
rs375542215
|
0.00003
|
|
NM_001267550.2(TTN):c.105301T>C (p.Ser35101Pro)
|
rs759062212
|
0.00003
|
|
NM_001267550.2(TTN):c.105374C>T (p.Thr35125Met)
|
rs747161494
|
0.00003
|
|
NM_001267550.2(TTN):c.105520C>T (p.Arg35174Cys)
|
rs778207634
|
0.00003
|
|
NM_001267550.2(TTN):c.105590G>A (p.Gly35197Asp)
|
rs397517796
|
0.00003
|
|
NM_001267550.2(TTN):c.105642C>A (p.Phe35214Leu)
|
rs560557634
|
0.00003
|
|
NM_001267550.2(TTN):c.106054T>C (p.Ser35352Pro)
|
rs370094513
|
0.00003
|
|
NM_001267550.2(TTN):c.106094G>A (p.Gly35365Asp)
|
rs778524334
|
0.00003
|
|
NM_001267550.2(TTN):c.106439A>G (p.His35480Arg)
|
rs766337455
|
0.00003
|
|
NM_001267550.2(TTN):c.106489T>G (p.Ser35497Ala)
|
rs369870182
|
0.00003
|
|
NM_001267550.2(TTN):c.11359G>A (p.Ala3787Thr)
|
rs779416521
|
0.00003
|
|
NM_001267550.2(TTN):c.1245+3A>G
|
rs757221300
|
0.00003
|
|
NM_001267550.2(TTN):c.12813C>A (p.His4271Gln)
|
rs373302409
|
0.00003
|
|
NM_001267550.2(TTN):c.13015G>A (p.Val4339Ile)
|
rs756186781
|
0.00003
|
|
NM_001267550.2(TTN):c.13048G>A (p.Val4350Met)
|
rs781206839
|
0.00003
|
|
NM_001267550.2(TTN):c.1330A>G (p.Ser444Gly)
|
rs767156649
|
0.00003
|
|
NM_001267550.2(TTN):c.14152A>G (p.Lys4718Glu)
|
rs757119133
|
0.00003
|
|
NM_001267550.2(TTN):c.15196A>G (p.Ser5066Gly)
|
rs756793304
|
0.00003
|
|
NM_001267550.2(TTN):c.16126C>A (p.Leu5376Met)
|
rs72648936
|
0.00003
|
|
NM_001267550.2(TTN):c.16160G>C (p.Arg5387Thr)
|
rs748155563
|
0.00003
|
|
NM_001267550.2(TTN):c.16351A>G (p.Ser5451Gly)
|
rs760722200
|
0.00003
|
|
NM_001267550.2(TTN):c.16369G>A (p.Gly5457Ser)
|
rs774425875
|
0.00003
|
|
NM_001267550.2(TTN):c.17461+1G>T
|
rs747990127
|
0.00003
|
|
NM_001267550.2(TTN):c.187G>A (p.Ala63Thr)
|
rs764892312
|
0.00003
|
|
NM_001267550.2(TTN):c.19118A>G (p.Glu6373Gly)
|
rs367868361
|
0.00003
|
|
NM_001267550.2(TTN):c.19715-1G>A
|
rs767658044
|
0.00003
|
|
NM_001267550.2(TTN):c.19786A>G (p.Ile6596Val)
|
rs369108292
|
0.00003
|
|
NM_001267550.2(TTN):c.19933A>G (p.Thr6645Ala)
|
rs370671112
|
0.00003
|
|
NM_001267550.2(TTN):c.19963G>A (p.Asp6655Asn)
|
rs397517493
|
0.00003
|
|
NM_001267550.2(TTN):c.20096T>A (p.Val6699Asp)
|
rs907862282
|
0.00003
|
|
NM_001267550.2(TTN):c.20156T>C (p.Ile6719Thr)
|
rs770377168
|
0.00003
|
|
NM_001267550.2(TTN):c.20474C>T (p.Thr6825Ile)
|
rs763006525
|
0.00003
|
|
NM_001267550.2(TTN):c.2083G>A (p.Val695Ile)
|
rs747479318
|
0.00003
|
|
NM_001267550.2(TTN):c.21119G>A (p.Arg7040Gln)
|
rs754476903
|
0.00003
|
|
NM_001267550.2(TTN):c.21332T>C (p.Met7111Thr)
|
rs374408615
|
0.00003
|
|
NM_001267550.2(TTN):c.22592G>A (p.Ser7531Asn)
|
rs267599060
|
0.00003
|
|
NM_001267550.2(TTN):c.22942G>A (p.Glu7648Lys)
|
rs397517502
|
0.00003
|
|
NM_001267550.2(TTN):c.24482G>A (p.Cys8161Tyr)
|
rs372143487
|
0.00003
|
|
NM_001267550.2(TTN):c.24833G>C (p.Gly8278Ala)
|
rs778611558
|
0.00003
|
|
NM_001267550.2(TTN):c.25180T>G (p.Tyr8394Asp)
|
rs898098652
|
0.00003
|
|
NM_001267550.2(TTN):c.2605A>T (p.Thr869Ser)
|
rs370962244
|
0.00003
|
|
NM_001267550.2(TTN):c.26893G>A (p.Glu8965Lys)
|
rs200325324
|
0.00003
|
|
NM_001267550.2(TTN):c.26C>T (p.Thr9Met)
|
rs146123323
|
0.00003
|
|
NM_001267550.2(TTN):c.27350G>C (p.Arg9117Thr)
|
rs375907742
|
0.00003
|
|
NM_001267550.2(TTN):c.27607G>T (p.Glu9203Ter)
|
rs769097909
|
0.00003
|
|
NM_001267550.2(TTN):c.27928G>A (p.Val9310Ile)
|
rs200207722
|
0.00003
|
|
NM_001267550.2(TTN):c.27988A>G (p.Ile9330Val)
|
rs768696299
|
0.00003
|
|
NM_001267550.2(TTN):c.28137A>G (p.Ile9379Met)
|
rs1060500516
|
0.00003
|
|
NM_001267550.2(TTN):c.28262C>T (p.Thr9421Met)
|
rs375209383
|
0.00003
|
|
NM_001267550.2(TTN):c.31594G>A (p.Val10532Ile)
|
rs763955552
|
0.00003
|
|
NM_001267550.2(TTN):c.31672C>A (p.Pro10558Thr)
|
rs769915175
|
0.00003
|
|
NM_001267550.2(TTN):c.31735A>C (p.Lys10579Gln)
|
rs376287951
|
0.00003
|
|
NM_001267550.2(TTN):c.32020C>G (p.Leu10674Val)
|
rs766003250
|
0.00003
|
|
NM_001267550.2(TTN):c.3214G>A (p.Glu1072Lys)
|
rs1263370770
|
0.00003
|
|
NM_001267550.2(TTN):c.3235C>A (p.Pro1079Thr)
|
rs774643116
|
0.00003
|
|
NM_001267550.2(TTN):c.32722+3A>G
|
rs1182220171
|
0.00003
|
|
NM_001267550.2(TTN):c.32888-3C>A
|
rs397517544
|
0.00003
|
|
NM_001267550.2(TTN):c.32C>T (p.Pro11Leu)
|
rs768624416
|
0.00003
|
|
NM_001267550.2(TTN):c.33664+6C>G
|
rs1060500524
|
0.00003
|
|
NM_001267550.2(TTN):c.35384A>C (p.Lys11795Thr)
|
rs890825956
|
0.00003
|
|
NM_001267550.2(TTN):c.35717C>G (p.Pro11906Arg)
|
rs781317174
|
0.00003
|
|
NM_001267550.2(TTN):c.36281-9T>C
|
rs760175676
|
0.00003
|
|
NM_001267550.2(TTN):c.36427C>T (p.Pro12143Ser)
|
rs779794774
|
0.00003
|
|
NM_001267550.2(TTN):c.36617-5T>A
|
rs771059357
|
0.00003
|
|
NM_001267550.2(TTN):c.36680C>T (p.Pro12227Leu)
|
rs767455362
|
0.00003
|
|
NM_001267550.2(TTN):c.38372G>C (p.Arg12791Pro)
|
rs1237577240
|
0.00003
|
|
NM_001267550.2(TTN):c.38681A>G (p.Lys12894Arg)
|
rs574694398
|
0.00003
|
|
NM_001267550.2(TTN):c.39056C>T (p.Pro13019Leu)
|
rs763845436
|
0.00003
|
|
NM_001267550.2(TTN):c.3913G>T (p.Gly1305Trp)
|
rs199889888
|
0.00003
|
|
NM_001267550.2(TTN):c.39928A>C (p.Lys13310Gln)
|
rs1317959875
|
0.00003
|
|
NM_001267550.2(TTN):c.40511T>G (p.Leu13504Arg)
|
rs776115575
|
0.00003
|
|
NM_001267550.2(TTN):c.41018C>T (p.Pro13673Leu)
|
rs765821223
|
0.00003
|
|
NM_001267550.2(TTN):c.41406C>T (p.Cys13802=)
|
rs749356221
|
0.00003
|
|
NM_001267550.2(TTN):c.41641C>T (p.Arg13881Ter)
|
rs747469275
|
0.00003
|
|
NM_001267550.2(TTN):c.41818G>C (p.Glu13940Gln)
|
rs1172846357
|
0.00003
|
|
NM_001267550.2(TTN):c.43460G>A (p.Ser14487Asn)
|
rs770233190
|
0.00003
|
|
NM_001267550.2(TTN):c.43681G>T (p.Asp14561Tyr)
|
rs745655055
|
0.00003
|
|
NM_001267550.2(TTN):c.4373T>G (p.Val1458Gly)
|
rs1164246536
|
0.00003
|
|
NM_001267550.2(TTN):c.44117A>G (p.Asn14706Ser)
|
rs878854309
|
0.00003
|
|
NM_001267550.2(TTN):c.44366A>G (p.Tyr14789Cys)
|
rs397517577
|
0.00003
|
|
NM_001267550.2(TTN):c.44525C>T (p.Thr14842Ile)
|
rs370782364
|
0.00003
|
|
NM_001267550.2(TTN):c.44987G>A (p.Arg14996His)
|
rs762128685
|
0.00003
|
|
NM_001267550.2(TTN):c.47516T>C (p.Ile15839Thr)
|
rs764388462
|
0.00003
|
|
NM_001267550.2(TTN):c.47687T>C (p.Ile15896Thr)
|
rs1411457226
|
0.00003
|
|
NM_001267550.2(TTN):c.47978C>A (p.Thr15993Asn)
|
rs727503622
|
0.00003
|
|
NM_001267550.2(TTN):c.48023G>A (p.Arg16008Gln)
|
rs771224957
|
0.00003
|
|
NM_001267550.2(TTN):c.48164G>A (p.Arg16055His)
|
rs72677238
|
0.00003
|
|
NM_001267550.2(TTN):c.48359T>C (p.Val16120Ala)
|
rs745999025
|
0.00003
|
|
NM_001267550.2(TTN):c.48545A>C (p.Asp16182Ala)
|
rs762913484
|
0.00003
|
|
NM_001267550.2(TTN):c.485T>A (p.Leu162Gln)
|
rs145438758
|
0.00003
|
|
NM_001267550.2(TTN):c.49129G>A (p.Asp16377Asn)
|
rs757542062
|
0.00003
|
|
NM_001267550.2(TTN):c.50077G>A (p.Val16693Ile)
|
rs377141765
|
0.00003
|
|
NM_001267550.2(TTN):c.50597G>A (p.Arg16866Lys)
|
rs774137928
|
0.00003
|
|
NM_001267550.2(TTN):c.51079A>T (p.Ile17027Phe)
|
rs770809063
|
0.00003
|
|
NM_001267550.2(TTN):c.52052T>C (p.Val17351Ala)
|
rs565423253
|
0.00003
|
|
NM_001267550.2(TTN):c.52589A>G (p.Asn17530Ser)
|
rs762214300
|
0.00003
|
|
NM_001267550.2(TTN):c.52706C>A (p.Ser17569Tyr)
|
rs756689649
|
0.00003
|
|
NM_001267550.2(TTN):c.53002+4C>G
|
rs947716496
|
0.00003
|
|
NM_001267550.2(TTN):c.53791C>G (p.Gln17931Glu)
|
rs759208053
|
0.00003
|
|
NM_001267550.2(TTN):c.53881+4C>T
|
rs187632918
|
0.00003
|
|
NM_001267550.2(TTN):c.54819G>A (p.Pro18273=)
|
rs373624715
|
0.00003
|
|
NM_001267550.2(TTN):c.55269G>C (p.Lys18423Asn)
|
rs367799017
|
0.00003
|
|
NM_001267550.2(TTN):c.5581C>T (p.Arg1861Cys)
|
rs532733393
|
0.00003
|
|
NM_001267550.2(TTN):c.55988A>G (p.Asn18663Ser)
|
rs368350844
|
0.00003
|
|
NM_001267550.2(TTN):c.56096G>A (p.Gly18699Glu)
|
rs1060500533
|
0.00003
|
|
NM_001267550.2(TTN):c.56171A>G (p.Lys18724Arg)
|
rs201091423
|
0.00003
|
|
NM_001267550.2(TTN):c.56573G>A (p.Arg18858Gln)
|
rs755848019
|
0.00003
|
|
NM_001267550.2(TTN):c.56822C>T (p.Ala18941Val)
|
rs754264431
|
0.00003
|
|
NM_001267550.2(TTN):c.56960T>C (p.Ile18987Thr)
|
rs373351577
|
0.00003
|
|
NM_001267550.2(TTN):c.57508G>A (p.Gly19170Arg)
|
rs750947988
|
0.00003
|
|
NM_001267550.2(TTN):c.5761A>G (p.Ile1921Val)
|
rs879100565
|
0.00003
|
|
NM_001267550.2(TTN):c.57777G>A (p.Ala19259=)
|
rs376930907
|
0.00003
|
|
NM_001267550.2(TTN):c.583+4C>T
|
rs764670848
|
0.00003
|
|
NM_001267550.2(TTN):c.58609A>T (p.Thr19537Ser)
|
rs750320421
|
0.00003
|
|
NM_001267550.2(TTN):c.5912C>G (p.Thr1971Ser)
|
rs778898929
|
0.00003
|
|
NM_001267550.2(TTN):c.59243G>A (p.Arg19748Gln)
|
rs142791877
|
0.00003
|
|
NM_001267550.2(TTN):c.59725A>G (p.Ile19909Val)
|
rs1060500484
|
0.00003
|
|
NM_001267550.2(TTN):c.60008G>A (p.Arg20003His)
|
rs756091180
|
0.00003
|
|
NM_001267550.2(TTN):c.60062C>T (p.Thr20021Ile)
|
rs760706351
|
0.00003
|
|
NM_001267550.2(TTN):c.60298G>A (p.Ala20100Thr)
|
rs748929812
|
0.00003
|
|
NM_001267550.2(TTN):c.60407T>A (p.Leu20136His)
|
rs1060500492
|
0.00003
|
|
NM_001267550.2(TTN):c.617C>A (p.Thr206Lys)
|
rs768427369
|
0.00003
|
|
NM_001267550.2(TTN):c.61915T>C (p.Tyr20639His)
|
rs727503587
|
0.00003
|
|
NM_001267550.2(TTN):c.62468G>A (p.Arg20823His)
|
rs758019778
|
0.00003
|
|
NM_001267550.2(TTN):c.62779C>T (p.Arg20927Cys)
|
rs547604540
|
0.00003
|
|
NM_001267550.2(TTN):c.63110G>A (p.Arg21037His)
|
rs775651612
|
0.00003
|
|
NM_001267550.2(TTN):c.63665T>C (p.Val21222Ala)
|
rs183595734
|
0.00003
|
|
NM_001267550.2(TTN):c.63793G>A (p.Asp21265Asn)
|
rs794729474
|
0.00003
|
|
NM_001267550.2(TTN):c.64916G>A (p.Arg21639Gln)
|
rs373282633
|
0.00003
|
|
NM_001267550.2(TTN):c.65144G>T (p.Arg21715Leu)
|
rs368450785
|
0.00003
|
|
NM_001267550.2(TTN):c.65410T>C (p.Trp21804Arg)
|
rs745626132
|
0.00003
|
|
NM_001267550.2(TTN):c.6555_6556insTGTAAGGAAACAGACA (p.Lys2186fs)
|
rs587780494
|
0.00003
|
|
NM_001267550.2(TTN):c.6587G>A (p.Cys2196Tyr)
|
rs878854326
|
0.00003
|
|
NM_001267550.2(TTN):c.66099A>C (p.Glu22033Asp)
|
rs768277403
|
0.00003
|
|
NM_001267550.2(TTN):c.66650T>G (p.Phe22217Cys)
|
rs764330098
|
0.00003
|
|
NM_001267550.2(TTN):c.6668A>T (p.His2223Leu)
|
rs372979075
|
0.00003
|
|
NM_001267550.2(TTN):c.66863G>A (p.Arg22288His)
|
rs537871205
|
0.00003
|
|
NM_001267550.2(TTN):c.6820C>G (p.Gln2274Glu)
|
rs145649088
|
0.00003
|
|
NM_001267550.2(TTN):c.68449C>A (p.Arg22817=)
|
rs371678190
|
0.00003
|
|
NM_001267550.2(TTN):c.69044C>T (p.Ala23015Val)
|
rs771710562
|
0.00003
|
|
NM_001267550.2(TTN):c.69517G>A (p.Gly23173Arg)
|
rs773592810
|
0.00003
|
|
NM_001267550.2(TTN):c.69731C>T (p.Pro23244Leu)
|
rs879056292
|
0.00003
|
|
NM_001267550.2(TTN):c.71719G>A (p.Ala23907Thr)
|
rs1309139547
|
0.00003
|
|
NM_001267550.2(TTN):c.71879T>C (p.Ile23960Thr)
|
rs568223521
|
0.00003
|
|
NM_001267550.2(TTN):c.72232A>G (p.Ile24078Val)
|
rs876658080
|
0.00003
|
|
NM_001267550.2(TTN):c.72358C>T (p.Leu24120Phe)
|
rs372309164
|
0.00003
|
|
NM_001267550.2(TTN):c.73568C>A (p.Pro24523Gln)
|
rs753557799
|
0.00003
|
|
NM_001267550.2(TTN):c.73975G>A (p.Gly24659Ser)
|
rs776423108
|
0.00003
|
|
NM_001267550.2(TTN):c.74185G>A (p.Ala24729Thr)
|
rs372007344
|
0.00003
|
|
NM_001267550.2(TTN):c.74814T>A (p.Ser24938Arg)
|
rs747593205
|
0.00003
|
|
NM_001267550.2(TTN):c.75526C>T (p.Arg25176Cys)
|
rs368339903
|
0.00003
|
|
NM_001267550.2(TTN):c.76069C>T (p.Arg25357Cys)
|
rs145437410
|
0.00003
|
|
NM_001267550.2(TTN):c.77035A>C (p.Asn25679His)
|
rs770512378
|
0.00003
|
|
NM_001267550.2(TTN):c.77540C>T (p.Thr25847Ile)
|
rs917984063
|
0.00003
|
|
NM_001267550.2(TTN):c.77652A>T (p.Glu25884Asp)
|
rs748940985
|
0.00003
|
|
NM_001267550.2(TTN):c.78323A>G (p.Gln26108Arg)
|
rs370963021
|
0.00003
|
|
NM_001267550.2(TTN):c.78413C>A (p.Ala26138Asp)
|
rs373587432
|
0.00003
|
|
NM_001267550.2(TTN):c.78589C>A (p.Pro26197Thr)
|
rs747052899
|
0.00003
|
|
NM_001267550.2(TTN):c.8018A>G (p.Lys2673Arg)
|
rs1060500389
|
0.00003
|
|
NM_001267550.2(TTN):c.80882C>T (p.Ala26961Val)
|
rs749194310
|
0.00003
|
|
NM_001267550.2(TTN):c.81250A>G (p.Ile27084Val)
|
rs371498697
|
0.00003
|
|
NM_001267550.2(TTN):c.82424C>A (p.Thr27475Lys)
|
rs377169807
|
0.00003
|
|
NM_001267550.2(TTN):c.83410G>A (p.Glu27804Lys)
|
rs759095633
|
0.00003
|
|
NM_001267550.2(TTN):c.83575A>G (p.Lys27859Glu)
|
rs761633407
|
0.00003
|
|
NM_001267550.2(TTN):c.84353G>T (p.Arg28118Leu)
|
rs72648220
|
0.00003
|
|
NM_001267550.2(TTN):c.84976C>T (p.Arg28326Trp)
|
rs749633038
|
0.00003
|
|
NM_001267550.2(TTN):c.85301A>C (p.Asn28434Thr)
|
rs758519100
|
0.00003
|
|
NM_001267550.2(TTN):c.85428A>G (p.Gln28476=)
|
rs777939514
|
0.00003
|
|
NM_001267550.2(TTN):c.85450G>A (p.Asp28484Asn)
|
rs56330345
|
0.00003
|
|
NM_001267550.2(TTN):c.86003T>C (p.Ile28668Thr)
|
rs374022393
|
0.00003
|
|
NM_001267550.2(TTN):c.86120G>A (p.Gly28707Glu)
|
rs754207859
|
0.00003
|
|
NM_001267550.2(TTN):c.86560G>A (p.Val28854Met)
|
rs769060885
|
0.00003
|
|
NM_001267550.2(TTN):c.86654G>A (p.Arg28885His)
|
rs371539720
|
0.00003
|
|
NM_001267550.2(TTN):c.86974T>C (p.Cys28992Arg)
|
rs769162510
|
0.00003
|
|
NM_001267550.2(TTN):c.87632G>A (p.Arg29211His)
|
rs370948914
|
0.00003
|
|
NM_001267550.2(TTN):c.89003A>T (p.Tyr29668Phe)
|
rs760499831
|
0.00003
|
|
NM_001267550.2(TTN):c.89170G>A (p.Glu29724Lys)
|
rs370918981
|
0.00003
|
|
NM_001267550.2(TTN):c.89727A>G (p.Lys29909=)
|
rs1489769852
|
0.00003
|
|
NM_001267550.2(TTN):c.9067C>T (p.His3023Tyr)
|
rs763992518
|
0.00003
|
|
NM_001267550.2(TTN):c.91342C>T (p.Arg30448Cys)
|
rs756030714
|
0.00003
|
|
NM_001267550.2(TTN):c.91361T>C (p.Ile30454Thr)
|
rs878985220
|
0.00003
|
|
NM_001267550.2(TTN):c.91520C>T (p.Pro30507Leu)
|
rs774107448
|
0.00003
|
|
NM_001267550.2(TTN):c.9163+5G>C
|
rs775448783
|
0.00003
|
|
NM_001267550.2(TTN):c.9164-2A>T
|
rs777369921
|
0.00003
|
|
NM_001267550.2(TTN):c.9166C>T (p.Arg3056Cys)
|
rs377207838
|
0.00003
|
|
NM_001267550.2(TTN):c.92765C>T (p.Ala30922Val)
|
rs756786292
|
0.00003
|
|
NM_001267550.2(TTN):c.93107T>C (p.Met31036Thr)
|
rs376942948
|
0.00003
|
|
NM_001267550.2(TTN):c.93182G>A (p.Arg31061His)
|
rs727504923
|
0.00003
|
|
NM_001267550.2(TTN):c.93242C>T (p.Ala31081Val)
|
rs1032232850
|
0.00003
|
|
NM_001267550.2(TTN):c.93392T>G (p.Val31131Gly)
|
rs1176407616
|
0.00003
|
|
NM_001267550.2(TTN):c.9356C>T (p.Thr3119Ile)
|
rs1444407818
|
0.00003
|
|
NM_001267550.2(TTN):c.93581A>G (p.Tyr31194Cys)
|
rs543223589
|
0.00003
|
|
NM_001267550.2(TTN):c.93674T>C (p.Ile31225Thr)
|
rs727505175
|
0.00003
|
|
NM_001267550.2(TTN):c.94187A>C (p.Glu31396Ala)
|
rs768420352
|
0.00003
|
|
NM_001267550.2(TTN):c.9442C>T (p.Arg3148Cys)
|
rs372196051
|
0.00003
|
|
NM_001267550.2(TTN):c.95149G>A (p.Val31717Ile)
|
rs150930737
|
0.00003
|
|
NM_001267550.2(TTN):c.9520G>A (p.Asp3174Asn)
|
rs984157404
|
0.00003
|
|
NM_001267550.2(TTN):c.95336T>C (p.Ile31779Thr)
|
rs1460359915
|
0.00003
|
|
NM_001267550.2(TTN):c.96198C>G (p.Ser32066Arg)
|
rs747323263
|
0.00003
|
|
NM_001267550.2(TTN):c.9713C>T (p.Pro3238Leu)
|
rs397517792
|
0.00003
|
|
NM_001267550.2(TTN):c.97324G>A (p.Ala32442Thr)
|
rs778341120
|
0.00003
|
|
NM_001267550.2(TTN):c.97442G>A (p.Gly32481Glu)
|
rs201364164
|
0.00003
|
|
NM_001267550.2(TTN):c.97481G>A (p.Arg32494His)
|
rs371645048
|
0.00003
|
|
NM_001267550.2(TTN):c.98075C>G (p.Thr32692Arg)
|
rs727505311
|
0.00003
|
|
NM_001267550.2(TTN):c.98098+3G>A
|
rs556524594
|
0.00003
|
|
NM_001267550.2(TTN):c.98119G>C (p.Asp32707His)
|
rs1307768306
|
0.00003
|
|
NM_001267550.2(TTN):c.98278C>T (p.Leu32760Phe)
|
rs1060500523
|
0.00003
|
|
NM_001267550.2(TTN):c.98524G>A (p.Ala32842Thr)
|
rs199647622
|
0.00003
|
|
NM_001267550.2(TTN):c.98552G>A (p.Arg32851Gln)
|
rs775915301
|
0.00003
|
|
NM_001267550.2(TTN):c.99518G>A (p.Cys33173Tyr)
|
rs761362832
|
0.00003
|
|
NM_001276345.2(TNNT2):c.103G>A (p.Glu35Lys)
|
rs867180029
|
0.00003
|
|
NM_001276345.2(TNNT2):c.294+6C>T
|
rs758051932
|
0.00003
|
|
NM_001276345.2(TNNT2):c.411+6T>A
|
rs761043932
|
0.00003
|
|
NM_001276345.2(TNNT2):c.436G>A (p.Glu146Lys)
|
rs371142225
|
0.00003
|
|
NM_001276345.2(TNNT2):c.609+3G>A
|
rs997358710
|
0.00003
|
|
NM_001276345.2(TNNT2):c.617G>A (p.Arg206Gln)
|
rs371047521
|
0.00003
|
|
NM_001276345.2(TNNT2):c.691A>G (p.Ile231Val)
|
rs886045828
|
0.00003
|
|
NM_001276345.2(TNNT2):c.721G>C (p.Glu241Gln)
|
rs1189945246
|
0.00003
|
|
NM_001276345.2(TNNT2):c.810+6C>T
|
rs727504260
|
0.00003
|
|
NM_001276345.2(TNNT2):c.883G>A (p.Gly295Arg)
|
rs147940106
|
0.00003
|
|
NM_001289808.2(CRYAB):c.115C>G (p.Pro39Ala)
|
rs145768025
|
0.00003
|
|
NM_001289808.2(CRYAB):c.119C>T (p.Thr40Met)
|
rs782122417
|
0.00003
|
|
NM_001289808.2(CRYAB):c.277G>T (p.Val93Leu)
|
rs547282752
|
0.00003
|
|
NM_001289808.2(CRYAB):c.31C>T (p.Arg11Cys)
|
rs781902168
|
0.00003
|
|
NM_001289808.2(CRYAB):c.368G>A (p.Arg123Gln)
|
rs782206421
|
0.00003
|
|
NM_001289808.2(CRYAB):c.469C>T (p.Arg157Cys)
|
rs374169381
|
0.00003
|
|
NM_001289808.2(CRYAB):c.65G>A (p.Arg22His)
|
rs782316391
|
0.00003
|
|
NM_001318895.3(FHL2):c.281C>T (p.Ser94Phe)
|
rs201826187
|
0.00003
|
|
NM_001318895.3(FHL2):c.487G>A (p.Val163Ile)
|
rs753660280
|
0.00003
|
|
NM_001318895.3(FHL2):c.688G>A (p.Gly230Arg)
|
rs534279240
|
0.00003
|
|
NM_001386795.1(DTNA):c.1082G>A (p.Arg361Lys)
|
rs776353848
|
0.00003
|
|
NM_001386795.1(DTNA):c.1637G>A (p.Arg546Gln)
|
rs773504046
|
0.00003
|
|
NM_001386795.1(DTNA):c.1748A>G (p.Gln583Arg)
|
rs769821768
|
0.00003
|
|
NM_001386795.1(DTNA):c.1838C>T (p.Pro613Leu)
|
rs145425478
|
0.00003
|
|
NM_001386795.1(DTNA):c.1965G>A (p.Met655Ile)
|
rs749109824
|
0.00003
|
|
NM_001386795.1(DTNA):c.2156G>A (p.Gly719Asp)
|
rs928341511
|
0.00003
|
|
NM_001386795.1(DTNA):c.497G>A (p.Arg166Gln)
|
rs376007740
|
0.00003
|
|
NM_001386795.1(DTNA):c.515G>A (p.Arg172Gln)
|
rs774940705
|
0.00003
|
|
NM_001386795.1(DTNA):c.536C>T (p.Thr179Met)
|
rs752144270
|
0.00003
|
|
NM_001386795.1(DTNA):c.604-13T>G
|
rs761037945
|
0.00003
|
|
NM_001386795.1(DTNA):c.604-7T>A
|
rs766599616
|
0.00003
|
|
NM_001386795.1(DTNA):c.937C>T (p.Arg313Cys)
|
rs536920784
|
0.00003
|
|
NM_001458.5(FLNC):c.1027A>G (p.Lys343Glu)
|
rs745495679
|
0.00003
|
|
NM_001458.5(FLNC):c.1211-5G>A
|
rs769599454
|
0.00003
|
|
NM_001458.5(FLNC):c.1528A>C (p.Lys510Gln)
|
rs955475416
|
0.00003
|
|
NM_001458.5(FLNC):c.1649C>T (p.Thr550Met)
|
rs779802575
|
0.00003
|
|
NM_001458.5(FLNC):c.19T>G (p.Tyr7Asp)
|
rs896068048
|
0.00003
|
|
NM_001458.5(FLNC):c.2491G>A (p.Val831Ile)
|
rs746478952
|
0.00003
|
|
NM_001458.5(FLNC):c.2500A>G (p.Thr834Ala)
|
rs781169622
|
0.00003
|
|
NM_001458.5(FLNC):c.2811+6C>T
|
rs750718546
|
0.00003
|
|
NM_001458.5(FLNC):c.2845G>C (p.Asp949His)
|
rs761905908
|
0.00003
|
|
NM_001458.5(FLNC):c.3085A>G (p.Met1029Val)
|
rs369078760
|
0.00003
|
|
NM_001458.5(FLNC):c.3376C>G (p.Pro1126Ala)
|
rs748785077
|
0.00003
|
|
NM_001458.5(FLNC):c.3706C>T (p.Pro1236Ser)
|
rs747678267
|
0.00003
|
|
NM_001458.5(FLNC):c.3871C>T (p.Arg1291Cys)
|
rs753591663
|
0.00003
|
|
NM_001458.5(FLNC):c.4000G>A (p.Ala1334Thr)
|
rs556477946
|
0.00003
|
|
NM_001458.5(FLNC):c.4413A>T (p.Gln1471His)
|
rs765435961
|
0.00003
|
|
NM_001458.5(FLNC):c.5165G>C (p.Gly1722Ala)
|
rs775405275
|
0.00003
|
|
NM_001458.5(FLNC):c.550G>A (p.Asp184Asn)
|
rs1215344798
|
0.00003
|
|
NM_001458.5(FLNC):c.6595G>A (p.Gly2199Arg)
|
rs368977589
|
0.00003
|
|
NM_001458.5(FLNC):c.6711C>G (p.Ile2237Met)
|
rs781708543
|
0.00003
|
|
NM_001458.5(FLNC):c.7564G>A (p.Val2522Met)
|
rs780917403
|
0.00003
|
|
NM_001458.5(FLNC):c.7823C>T (p.Thr2608Met)
|
rs1175931652
|
0.00003
|
|
NM_001458.5(FLNC):c.7948G>A (p.Val2650Met)
|
rs372172779
|
0.00003
|
|
NM_001458.5(FLNC):c.8059A>G (p.Met2687Val)
|
rs369110441
|
0.00003
|
|
NM_001458.5(FLNC):c.898G>A (p.Val300Met)
|
rs765885585
|
0.00003
|
|
NM_001458.5(FLNC):c.919G>A (p.Val307Met)
|
rs763968152
|
0.00003
|
|
NM_001927.4(DES):c.1064G>A (p.Arg355Gln)
|
rs61368398
|
0.00003
|
|
NM_001927.4(DES):c.229A>G (p.Thr77Ala)
|
rs769034192
|
0.00003
|
|
NM_001927.4(DES):c.233G>T (p.Arg78Leu)
|
rs573916832
|
0.00003
|
|
NM_001927.4(DES):c.367A>G (p.Ile123Val)
|
rs376048590
|
0.00003
|
|
NM_001927.4(DES):c.391C>A (p.Gln131Lys)
|
rs771499260
|
0.00003
|
|
NM_001927.4(DES):c.461T>A (p.Leu154His)
|
rs755106109
|
0.00003
|
|
NM_001927.4(DES):c.637G>A (p.Ala213Thr)
|
rs918962036
|
0.00003
|
|
NM_001943.5(DSG2):c.122A>T (p.His41Leu)
|
rs777373864
|
0.00003
|
|
NM_001943.5(DSG2):c.1418C>T (p.Ser473Leu)
|
rs774607590
|
0.00003
|
|
NM_001943.5(DSG2):c.1555G>T (p.Asp519Tyr)
|
rs778119035
|
0.00003
|
|
NM_001943.5(DSG2):c.1642C>T (p.Arg548Cys)
|
rs550400909
|
0.00003
|
|
NM_001943.5(DSG2):c.1792G>A (p.Gly598Ser)
|
rs773666300
|
0.00003
|
|
NM_001943.5(DSG2):c.2079A>C (p.Glu693Asp)
|
rs375595872
|
0.00003
|
|
NM_001943.5(DSG2):c.216+3A>C
|
rs774208829
|
0.00003
|
|
NM_001943.5(DSG2):c.2162A>G (p.His721Arg)
|
rs756912703
|
0.00003
|
|
NM_001943.5(DSG2):c.2426C>T (p.Ala809Val)
|
rs1278738577
|
0.00003
|
|
NM_001943.5(DSG2):c.2468A>G (p.Asp823Gly)
|
rs777642924
|
0.00003
|
|
NM_001943.5(DSG2):c.2510C>A (p.Ala837Asp)
|
rs756338201
|
0.00003
|
|
NM_001943.5(DSG2):c.2638A>C (p.Asn880His)
|
rs745617885
|
0.00003
|
|
NM_001943.5(DSG2):c.2880C>G (p.Ser960Arg)
|
rs374807974
|
0.00003
|
|
NM_001943.5(DSG2):c.2960T>C (p.Val987Ala)
|
rs727502991
|
0.00003
|
|
NM_001943.5(DSG2):c.3040G>A (p.Val1014Ile)
|
rs200830807
|
0.00003
|
|
NM_001943.5(DSG2):c.721G>A (p.Ala241Thr)
|
rs371918777
|
0.00003
|
|
NM_001943.5(DSG2):c.806T>C (p.Ile269Thr)
|
rs727502986
|
0.00003
|
|
NM_001985.3(ETFB):c.142G>A (p.Glu48Lys)
|
rs750117869
|
0.00003
|
|
NM_001985.3(ETFB):c.232G>A (p.Ala78Thr)
|
rs548046212
|
0.00003
|
|
NM_001985.3(ETFB):c.598A>G (p.Lys200Glu)
|
rs920672041
|
0.00003
|
|
NM_001985.3(ETFB):c.687C>A (p.Asp229Glu)
|
rs200877363
|
0.00003
|
|
NM_002230.4(JUP):c.1099C>G (p.Arg367Gly)
|
rs76416187
|
0.00003
|
|
NM_002230.4(JUP):c.1222C>T (p.Leu408Phe)
|
rs369755953
|
0.00003
|
|
NM_002230.4(JUP):c.1235C>T (p.Thr412Met)
|
rs782551865
|
0.00003
|
|
NM_002230.4(JUP):c.1379G>A (p.Arg460His)
|
rs397517296
|
0.00003
|
|
NM_002230.4(JUP):c.1430G>A (p.Arg477His)
|
rs781788038
|
0.00003
|
|
NM_002230.4(JUP):c.1439A>G (p.Tyr480Cys)
|
rs782756834
|
0.00003
|
|
NM_002230.4(JUP):c.1729C>T (p.Arg577Cys)
|
rs782354654
|
0.00003
|
|
NM_002230.4(JUP):c.1933G>A (p.Ala645Thr)
|
rs727504778
|
0.00003
|
|
NM_002230.4(JUP):c.1996G>A (p.Val666Met)
|
rs372369061
|
0.00003
|
|
NM_002230.4(JUP):c.2021A>G (p.Lys674Arg)
|
rs1914011596
|
0.00003
|
|
NM_002230.4(JUP):c.2189G>A (p.Ser730Asn)
|
rs782261124
|
0.00003
|
|
NM_002230.4(JUP):c.332C>T (p.Thr111Ile)
|
rs782080859
|
0.00003
|
|
NM_002230.4(JUP):c.467C>T (p.Pro156Leu)
|
rs782052422
|
0.00003
|
|
NM_002230.4(JUP):c.509C>T (p.Ser170Leu)
|
rs782284038
|
0.00003
|
|
NM_002471.4(MYH6):c.1088T>C (p.Met363Thr)
|
rs150272218
|
0.00003
|
|
NM_002471.4(MYH6):c.1108C>T (p.Arg370Trp)
|
rs753444140
|
0.00003
|
|
NM_002471.4(MYH6):c.1316G>A (p.Trp439Ter)
|
rs375729555
|
0.00003
|
|
NM_002471.4(MYH6):c.1960C>T (p.Arg654Trp)
|
rs369938365
|
0.00003
|
|
NM_002471.4(MYH6):c.2039G>A (p.Arg680Gln)
|
rs551746815
|
0.00003
|
|
NM_002471.4(MYH6):c.2065C>A (p.Pro689Thr)
|
rs748016197
|
0.00003
|
|
NM_002471.4(MYH6):c.2141G>A (p.Arg714His)
|
rs776602843
|
0.00003
|
|
NM_002471.4(MYH6):c.2399G>A (p.Arg800His)
|
rs535438755
|
0.00003
|
|
NM_002471.4(MYH6):c.2540C>T (p.Thr847Met)
|
rs759408374
|
0.00003
|
|
NM_002471.4(MYH6):c.2615G>A (p.Arg872His)
|
rs773162706
|
0.00003
|
|
NM_002471.4(MYH6):c.2722G>A (p.Asp908Asn)
|
rs758061689
|
0.00003
|
|
NM_002471.4(MYH6):c.2827C>T (p.Arg943Cys)
|
rs368912844
|
0.00003
|
|
NM_002471.4(MYH6):c.2984C>G (p.Thr995Ser)
|
rs753891816
|
0.00003
|
|
NM_002471.4(MYH6):c.3077A>C (p.Lys1026Thr)
|
rs746844081
|
0.00003
|
|
NM_002471.4(MYH6):c.3142A>G (p.Met1048Val)
|
rs1184334975
|
0.00003
|
|
NM_002471.4(MYH6):c.329C>T (p.Ala110Val)
|
rs149454728
|
0.00003
|
|
NM_002471.4(MYH6):c.3448G>A (p.Glu1150Lys)
|
rs760399050
|
0.00003
|
|
NM_002471.4(MYH6):c.3469G>A (p.Gly1157Arg)
|
rs755974106
|
0.00003
|
|
NM_002471.4(MYH6):c.3529C>T (p.Arg1177Trp)
|
rs747978305
|
0.00003
|
|
NM_002471.4(MYH6):c.3583C>T (p.Arg1195Cys)
|
rs769756450
|
0.00003
|
|
NM_002471.4(MYH6):c.3672C>T (p.Ser1224=)
|
rs755267212
|
0.00003
|
|
NM_002471.4(MYH6):c.3755G>A (p.Arg1252Gln)
|
rs759454361
|
0.00003
|
|
NM_002471.4(MYH6):c.3872G>A (p.Arg1291Gln)
|
rs780178869
|
0.00003
|
|
NM_002471.4(MYH6):c.3948C>A (p.Asp1316Glu)
|
rs998323910
|
0.00003
|
|
NM_002471.4(MYH6):c.4141G>A (p.Ala1381Thr)
|
rs753774406
|
0.00003
|
|
NM_002471.4(MYH6):c.4168G>A (p.Glu1390Lys)
|
rs1475985417
|
0.00003
|
|
NM_002471.4(MYH6):c.4286A>T (p.Asp1429Val)
|
rs755434984
|
0.00003
|
|
NM_002471.4(MYH6):c.4704C>A (p.Asn1568Lys)
|
rs149771264
|
0.00003
|
|
NM_002471.4(MYH6):c.4721T>A (p.Ile1574Asn)
|
rs199627411
|
0.00003
|
|
NM_002471.4(MYH6):c.4750G>A (p.Glu1584Lys)
|
rs1280321639
|
0.00003
|
|
NM_002471.4(MYH6):c.4768C>A (p.Arg1590Ser)
|
rs544624250
|
0.00003
|
|
NM_002471.4(MYH6):c.4829G>A (p.Arg1610His)
|
rs758792342
|
0.00003
|
|
NM_002471.4(MYH6):c.4985C>T (p.Ala1662Val)
|
rs773445582
|
0.00003
|
|
NM_002471.4(MYH6):c.502+5G>A
|
rs764301017
|
0.00003
|
|
NM_002471.4(MYH6):c.5101C>T (p.Arg1701Trp)
|
rs765737102
|
0.00003
|
|
NM_002471.4(MYH6):c.5137G>A (p.Glu1713Lys)
|
rs369275573
|
0.00003
|
|
NM_002471.4(MYH6):c.5267A>G (p.Lys1756Arg)
|
rs746064687
|
0.00003
|
|
NM_002471.4(MYH6):c.530+6C>T
|
rs374289431
|
0.00003
|
|
NM_002471.4(MYH6):c.5348G>A (p.Arg1783His)
|
rs745473249
|
0.00003
|
|
NM_002471.4(MYH6):c.5524A>G (p.Met1842Val)
|
rs754070802
|
0.00003
|
|
NM_002471.4(MYH6):c.5593C>T (p.Arg1865Trp)
|
rs759499155
|
0.00003
|
|
NM_002471.4(MYH6):c.5780G>T (p.Arg1927Leu)
|
rs730880152
|
0.00003
|
|
NM_002471.4(MYH6):c.635C>T (p.Ala212Val)
|
rs780456381
|
0.00003
|
|
NM_002633.3(PGM1):c.1195C>G (p.Leu399Val)
|
rs200065327
|
0.00003
|
|
NM_002633.3(PGM1):c.138C>A (p.Thr46=)
|
rs767357022
|
0.00003
|
|
NM_002633.3(PGM1):c.318C>G (p.Ile106Met)
|
rs781551165
|
0.00003
|
|
NM_002667.5(PLN):c.41G>T (p.Arg14Ile)
|
rs151112761
|
0.00003
|
|
NM_002667.5(PLN):c.53T>C (p.Ile18Thr)
|
rs1029766634
|
0.00003
|
|
NM_003476.5(CSRP3):c.140C>T (p.Thr47Met)
|
rs397516851
|
0.00003
|
|
NM_003476.5(CSRP3):c.191G>A (p.Arg64His)
|
rs375014380
|
0.00003
|
|
NM_003476.5(CSRP3):c.214G>A (p.Gly72Arg)
|
rs45552933
|
0.00003
|
|
NM_003476.5(CSRP3):c.22G>A (p.Ala8Thr)
|
rs45531937
|
0.00003
|
|
NM_003476.5(CSRP3):c.242G>A (p.Ser81Asn)
|
rs1401452451
|
0.00003
|
|
NM_003476.5(CSRP3):c.256G>A (p.Glu86Lys)
|
rs780917755
|
0.00003
|
|
NM_003476.5(CSRP3):c.287C>T (p.Pro96Leu)
|
rs766783066
|
0.00003
|
|
NM_003476.5(CSRP3):c.352G>A (p.Glu118Lys)
|
rs763096875
|
0.00003
|
|
NM_003476.5(CSRP3):c.568G>T (p.Val190Leu)
|
rs145073736
|
0.00003
|
|
NM_003673.4(TCAP):c.208C>T (p.Arg70Trp)
|
rs775636212
|
0.00003
|
|
NM_003673.4(TCAP):c.259C>T (p.Arg87Trp)
|
rs777518512
|
0.00003
|
|
NM_003673.4(TCAP):c.269C>T (p.Pro90Leu)
|
rs727504427
|
0.00003
|
|
NM_003673.4(TCAP):c.317G>A (p.Arg106His)
|
rs576098128
|
0.00003
|
|
NM_003673.4(TCAP):c.461G>A (p.Arg154His)
|
rs780544264
|
0.00003
|
|
NM_003673.4(TCAP):c.70G>C (p.Glu24Gln)
|
rs993261985
|
0.00003
|
|
NM_003803.4(MYOM1):c.1067A>G (p.Asn356Ser)
|
rs773694035
|
0.00003
|
|
NM_003803.4(MYOM1):c.1159A>G (p.Thr387Ala)
|
rs1033765822
|
0.00003
|
|
NM_003803.4(MYOM1):c.1279C>T (p.Arg427Cys)
|
rs376648139
|
0.00003
|
|
NM_003803.4(MYOM1):c.1370A>G (p.Gln457Arg)
|
rs757169901
|
0.00003
|
|
NM_003803.4(MYOM1):c.158C>T (p.Ala53Val)
|
rs747035411
|
0.00003
|
|
NM_003803.4(MYOM1):c.1847G>A (p.Arg616His)
|
rs183893490
|
0.00003
|
|
NM_003803.4(MYOM1):c.1967T>C (p.Leu656Pro)
|
rs764958355
|
0.00003
|
|
NM_003803.4(MYOM1):c.2367C>G (p.Asn789Lys)
|
rs773582739
|
0.00003
|
|
NM_003803.4(MYOM1):c.3283A>G (p.Ile1095Val)
|
rs201308522
|
0.00003
|
|
NM_003803.4(MYOM1):c.3424A>G (p.Lys1142Glu)
|
rs371004562
|
0.00003
|
|
NM_003803.4(MYOM1):c.3547C>T (p.Arg1183Ter)
|
rs369979714
|
0.00003
|
|
NM_003803.4(MYOM1):c.3782G>A (p.Arg1261Gln)
|
rs374656485
|
0.00003
|
|
NM_003803.4(MYOM1):c.4120G>A (p.Val1374Ile)
|
rs776814232
|
0.00003
|
|
NM_003803.4(MYOM1):c.4390A>C (p.Thr1464Pro)
|
rs755587149
|
0.00003
|
|
NM_003803.4(MYOM1):c.4428A>C (p.Gln1476His)
|
rs929663462
|
0.00003
|
|
NM_003803.4(MYOM1):c.4799C>T (p.Pro1600Leu)
|
rs372260768
|
0.00003
|
|
NM_003803.4(MYOM1):c.4981G>A (p.Val1661Ile)
|
rs780903555
|
0.00003
|
|
NM_003803.4(MYOM1):c.850C>T (p.Arg284Cys)
|
rs1001422774
|
0.00003
|
|
NM_004100.5(EYA4):c.1067G>A (p.Arg356Gln)
|
rs762144530
|
0.00003
|
|
NM_004100.5(EYA4):c.1340+3A>G
|
rs1242472994
|
0.00003
|
|
NM_004100.5(EYA4):c.1523G>C (p.Arg508Thr)
|
rs543789215
|
0.00003
|
|
NM_004100.5(EYA4):c.16G>A (p.Asp6Asn)
|
rs1253239225
|
0.00003
|
|
NM_004100.5(EYA4):c.824C>G (p.Ala275Gly)
|
rs748654006
|
0.00003
|
|
NM_004100.5(EYA4):c.848A>G (p.Gln283Arg)
|
rs376151731
|
0.00003
|
|
NM_004100.5(EYA4):c.860C>T (p.Ala287Val)
|
rs374522988
|
0.00003
|
|
NM_004100.5(EYA4):c.970+5A>G
|
rs886061089
|
0.00003
|
|
NM_004100.5(EYA4):c.973G>A (p.Glu325Lys)
|
rs1003638503
|
0.00003
|
|
NM_004281.4(BAG3):c.1028G>C (p.Arg343Pro)
|
rs774085746
|
0.00003
|
|
NM_004281.4(BAG3):c.1312G>T (p.Ala438Ser)
|
rs1031608025
|
0.00003
|
|
NM_004281.4(BAG3):c.485C>T (p.Pro162Leu)
|
rs373446989
|
0.00003
|
|
NM_004281.4(BAG3):c.509G>A (p.Arg170Gln)
|
rs140904592
|
0.00003
|
|
NM_004281.4(BAG3):c.781C>T (p.Arg261Trp)
|
rs548032105
|
0.00003
|
|
NM_004281.4(BAG3):c.854C>T (p.Thr285Met)
|
rs375650805
|
0.00003
|
|
NM_004281.4(BAG3):c.961C>T (p.Pro321Ser)
|
rs376832654
|
0.00003
|
|
NM_004415.4(DSP):c.2038G>A (p.Glu680Lys)
|
rs1186943530
|
0.00003
|
|
NM_004415.4(DSP):c.2540C>T (p.Pro847Leu)
|
rs727504657
|
0.00003
|
|
NM_004415.4(DSP):c.3153C>A (p.Asn1051Lys)
|
rs563387839
|
0.00003
|
|
NM_004415.4(DSP):c.4492A>G (p.Lys1498Glu)
|
rs794728122
|
0.00003
|
|
NM_004415.4(DSP):c.578G>T (p.Gly193Val)
|
rs750350474
|
0.00003
|
|
NM_004415.4(DSP):c.5827A>G (p.Arg1943Gly)
|
rs140663822
|
0.00003
|
|
NM_004415.4(DSP):c.7075A>G (p.Ile2359Val)
|
rs774087560
|
0.00003
|
|
NM_004415.4(DSP):c.7588A>T (p.Ile2530Phe)
|
rs397516958
|
0.00003
|
|
NM_004415.4(DSP):c.860A>G (p.Asn287Ser)
|
rs138872423
|
0.00003
|
|
NM_004453.4(ETFDH):c.1503T>G (p.Asp501Glu)
|
rs752947878
|
0.00003
|
|
NM_004453.4(ETFDH):c.88G>A (p.Ala30Thr)
|
rs1340326448
|
0.00003
|
|
NM_004517.4(ILK):c.277A>G (p.Ile93Val)
|
rs777569798
|
0.00003
|
|
NM_004517.4(ILK):c.370G>T (p.Ala124Ser)
|
rs745709169
|
0.00003
|
|
NM_004517.4(ILK):c.446G>A (p.Arg149Gln)
|
rs869025437
|
0.00003
|
|
NM_004517.4(ILK):c.481C>T (p.Arg161Cys)
|
rs761400440
|
0.00003
|
|
NM_004517.4(ILK):c.958C>G (p.Leu320Val)
|
rs912510389
|
0.00003
|
|
NM_005159.5(ACTC1):c.616+6T>C
|
rs574862389
|
0.00003
|
|
NM_005343.4(HRAS):c.280C>T (p.His94Tyr)
|
rs144718261
|
0.00003
|
|
NM_005343.4(HRAS):c.376G>C (p.Glu126Gln)
|
rs763754805
|
0.00003
|
|
NM_005343.4(HRAS):c.505C>T (p.Arg169Trp)
|
rs151229168
|
0.00003
|
|
NM_005921.2(MAP3K1):c.163G>A (p.Ala55Thr)
|
rs769918068
|
0.00003
|
|
NM_006073.4(TRDN):c.1019A>G (p.Glu340Gly)
|
rs745751151
|
0.00003
|
|
NM_006073.4(TRDN):c.1420+1G>T
|
rs1375657667
|
0.00003
|
|
NM_006073.4(TRDN):c.1601T>G (p.Ile534Arg)
|
rs926868398
|
0.00003
|
|
NM_006073.4(TRDN):c.1651A>G (p.Thr551Ala)
|
rs1304157111
|
0.00003
|
|
NM_006073.4(TRDN):c.1708A>G (p.Ile570Val)
|
rs915231524
|
0.00003
|
|
NM_006073.4(TRDN):c.1733C>A (p.Pro578Gln)
|
rs761240477
|
0.00003
|
|
NM_006073.4(TRDN):c.1754G>A (p.Arg585Gln)
|
rs199986608
|
0.00003
|
|
NM_006073.4(TRDN):c.1783G>A (p.Asp595Asn)
|
rs771170294
|
0.00003
|
|
NM_006073.4(TRDN):c.196G>T (p.Val66Phe)
|
rs372169818
|
0.00003
|
|
NM_006073.4(TRDN):c.2143A>G (p.Ser715Gly)
|
rs768748530
|
0.00003
|
|
NM_006073.4(TRDN):c.25A>G (p.Asn9Asp)
|
rs768303943
|
0.00003
|
|
NM_006073.4(TRDN):c.32C>T (p.Ser11Phe)
|
rs760549842
|
0.00003
|
|
NM_006073.4(TRDN):c.46G>C (p.Val16Leu)
|
rs974343553
|
0.00003
|
|
NM_006270.5(RRAS):c.175G>C (p.Asp59His)
|
rs775437600
|
0.00003
|
|
NM_006270.5(RRAS):c.307G>A (p.Gly103Ser)
|
rs745911237
|
0.00003
|
|
NM_006270.5(RRAS):c.352G>A (p.Glu118Lys)
|
rs533583599
|
0.00003
|
|
NM_006270.5(RRAS):c.461G>A (p.Arg154Gln)
|
rs1039650903
|
0.00003
|
|
NM_006270.5(RRAS):c.649C>G (p.Leu217Val)
|
rs988964363
|
0.00003
|
|
NM_006270.5(RRAS):c.64G>T (p.Gly22Trp)
|
rs754976061
|
0.00003
|
|
NM_006393.3(NEBL):c.113G>T (p.Ser38Ile)
|
rs375265257
|
0.00003
|
|
NM_006393.3(NEBL):c.1639C>T (p.Arg547Ter)
|
rs149647815
|
0.00003
|
|
NM_006393.3(NEBL):c.2041G>A (p.Glu681Lys)
|
rs1060503679
|
0.00003
|
|
NM_006393.3(NEBL):c.2148+1G>A
|
rs762179161
|
0.00003
|
|
NM_006393.3(NEBL):c.2401G>A (p.Val801Met)
|
rs772136984
|
0.00003
|
|
NM_006393.3(NEBL):c.2518+6C>G
|
rs771316603
|
0.00003
|
|
NM_006393.3(NEBL):c.2533C>T (p.Arg845Cys)
|
rs776914197
|
0.00003
|
|
NM_006393.3(NEBL):c.2596C>T (p.Leu866Phe)
|
rs373721327
|
0.00003
|
|
NM_006393.3(NEBL):c.2644C>T (p.Arg882Ter)
|
rs151012132
|
0.00003
|
|
NM_006393.3(NEBL):c.2841G>A (p.Met947Ile)
|
rs745574506
|
0.00003
|
|
NM_006393.3(NEBL):c.536G>A (p.Arg179Gln)
|
rs750476653
|
0.00003
|
|
NM_006393.3(NEBL):c.670A>G (p.Lys224Glu)
|
rs148079637
|
0.00003
|
|
NM_006393.3(NEBL):c.795C>G (p.Ser265Arg)
|
rs368513995
|
0.00003
|
|
NM_006393.3(NEBL):c.798+1G>A
|
rs746179839
|
0.00003
|
|
NM_006393.3(NEBL):c.903+1G>T
|
rs775057540
|
0.00003
|
|
NM_006393.3(NEBL):c.904C>T (p.Arg302Ter)
|
rs149737043
|
0.00003
|
|
NM_006440.5(TXNRD2):c.1037G>A (p.Arg346Gln)
|
rs201349663
|
0.00003
|
|
NM_006440.5(TXNRD2):c.1446G>T (p.Lys482Asn)
|
rs371797598
|
0.00003
|
|
NM_006440.5(TXNRD2):c.1453G>T (p.Ala485Ser)
|
rs960962542
|
0.00003
|
|
NM_006440.5(TXNRD2):c.1535G>A (p.Arg512His)
|
rs375708279
|
0.00003
|
|
NM_006440.5(TXNRD2):c.544G>A (p.Asp182Asn)
|
rs752857898
|
0.00003
|
|
NM_006440.5(TXNRD2):c.572G>A (p.Arg191Gln)
|
rs730880248
|
0.00003
|
|
NM_006912.6(RIT1):c.506A>G (p.Tyr169Cys)
|
rs763208084
|
0.00003
|
|
NM_006939.4(SOS2):c.1282G>A (p.Asp428Asn)
|
rs146283711
|
0.00003
|
|
NM_006939.4(SOS2):c.1417C>T (p.His473Tyr)
|
rs756637706
|
0.00003
|
|
NM_006939.4(SOS2):c.260T>C (p.Ile87Thr)
|
rs747274422
|
0.00003
|
|
NM_006939.4(SOS2):c.3490-3G>T
|
rs1399710421
|
0.00003
|
|
NM_006939.4(SOS2):c.3497T>C (p.Met1166Thr)
|
rs764483791
|
0.00003
|
|
NM_006939.4(SOS2):c.3814C>T (p.Arg1272Cys)
|
rs1005498417
|
0.00003
|
|
NM_012082.4(ZFPM2):c.1274A>T (p.Lys425Met)
|
rs771923819
|
0.00003
|
|
NM_012082.4(ZFPM2):c.1318A>G (p.Lys440Glu)
|
rs200311467
|
0.00003
|
|
NM_012082.4(ZFPM2):c.1721G>A (p.Arg574Gln)
|
rs773843701
|
0.00003
|
|
NM_012082.4(ZFPM2):c.2534C>T (p.Thr845Met)
|
rs530517993
|
0.00003
|
|
NM_012082.4(ZFPM2):c.2935G>A (p.Asp979Asn)
|
rs201644250
|
0.00003
|
|
NM_012082.4(ZFPM2):c.421-10C>A
|
rs761799802
|
0.00003
|
|
NM_012082.4(ZFPM2):c.664C>T (p.Arg222Cys)
|
rs373471482
|
0.00003
|
|
NM_012082.4(ZFPM2):c.760T>G (p.Ser254Ala)
|
rs953556550
|
0.00003
|
|
NM_013266.4(CTNNA3):c.1007G>A (p.Arg336His)
|
rs372482202
|
0.00003
|
|
NM_013266.4(CTNNA3):c.1064G>A (p.Arg355Lys)
|
rs375610128
|
0.00003
|
|
NM_013266.4(CTNNA3):c.1281+4A>G
|
rs1364739747
|
0.00003
|
|
NM_013266.4(CTNNA3):c.1610C>T (p.Ala537Val)
|
rs769674937
|
0.00003
|
|
NM_013266.4(CTNNA3):c.1627C>T (p.Arg543Trp)
|
rs372758887
|
0.00003
|
|
NM_013266.4(CTNNA3):c.1630G>A (p.Ala544Thr)
|
rs376250417
|
0.00003
|
|
NM_013266.4(CTNNA3):c.2098G>A (p.Asp700Asn)
|
rs570471424
|
0.00003
|
|
NM_013266.4(CTNNA3):c.2278T>C (p.Ser760Pro)
|
rs760532002
|
0.00003
|
|
NM_013266.4(CTNNA3):c.232C>T (p.Gln78Ter)
|
rs201306690
|
0.00003
|
|
NM_013266.4(CTNNA3):c.2368C>G (p.Gln790Glu)
|
rs758882774
|
0.00003
|
|
NM_013266.4(CTNNA3):c.305A>T (p.Lys102Ile)
|
rs777996573
|
0.00003
|
|
NM_013266.4(CTNNA3):c.452T>G (p.Val151Gly)
|
rs756167695
|
0.00003
|
|
NM_013266.4(CTNNA3):c.571C>T (p.Arg191Cys)
|
rs755934798
|
0.00003
|
|
NM_013266.4(CTNNA3):c.674G>T (p.Cys225Phe)
|
rs747835139
|
0.00003
|
|
NM_013266.4(CTNNA3):c.907C>T (p.Arg303Cys)
|
rs747726450
|
0.00003
|
|
NM_013266.4(CTNNA3):c.935C>T (p.Ala312Val)
|
rs758173783
|
0.00003
|
|
NM_013266.4(CTNNA3):c.999C>A (p.Asn333Lys)
|
rs146754105
|
0.00003
|
|
NM_014000.3(VCL):c.1015C>T (p.Arg339Cys)
|
rs759961842
|
0.00003
|
|
NM_014000.3(VCL):c.1039C>T (p.Pro347Ser)
|
rs566961713
|
0.00003
|
|
NM_014000.3(VCL):c.1040C>T (p.Pro347Leu)
|
rs148619523
|
0.00003
|
|
NM_014000.3(VCL):c.1247G>A (p.Arg416Gln)
|
rs758811315
|
0.00003
|
|
NM_014000.3(VCL):c.1352+5G>A
|
rs374522164
|
0.00003
|
|
NM_014000.3(VCL):c.1535G>A (p.Arg512His)
|
rs367568441
|
0.00003
|
|
NM_014000.3(VCL):c.1841C>T (p.Thr614Met)
|
rs748140302
|
0.00003
|
|
NM_014000.3(VCL):c.1844C>T (p.Ala615Val)
|
rs148669762
|
0.00003
|
|
NM_014000.3(VCL):c.1917G>T (p.Lys639Asn)
|
rs915381122
|
0.00003
|
|
NM_014000.3(VCL):c.1940C>T (p.Ala647Val)
|
rs534449109
|
0.00003
|
|
NM_014000.3(VCL):c.2006G>A (p.Arg669Gln)
|
rs759771302
|
0.00003
|
|
NM_014000.3(VCL):c.2443A>G (p.Lys815Glu)
|
rs960017518
|
0.00003
|
|
NM_014000.3(VCL):c.2875A>C (p.Asn959His)
|
rs758969419
|
0.00003
|
|
NM_014000.3(VCL):c.3258+5G>A
|
rs754978708
|
0.00003
|
|
NM_014000.3(VCL):c.3267G>C (p.Glu1089Asp)
|
rs149300310
|
0.00003
|
|
NM_014476.6(PDLIM3):c.1007A>G (p.Glu336Gly)
|
rs747338250
|
0.00003
|
|
NM_014476.6(PDLIM3):c.1033G>A (p.Ala345Thr)
|
rs373408599
|
0.00003
|
|
NM_014476.6(PDLIM3):c.1037G>A (p.Arg346Lys)
|
rs762986959
|
0.00003
|
|
NM_014476.6(PDLIM3):c.177_178dup (p.Met60fs)
|
rs199476399
|
0.00003
|
|
NM_014476.6(PDLIM3):c.331G>C (p.Asp111His)
|
rs143725812
|
0.00003
|
|
NM_014476.6(PDLIM3):c.346G>C (p.Glu116Gln)
|
rs769389710
|
0.00003
|
|
NM_014476.6(PDLIM3):c.40G>A (p.Gly14Ser)
|
rs150125560
|
0.00003
|
|
NM_014476.6(PDLIM3):c.439C>T (p.Arg147Cys)
|
rs769851440
|
0.00003
|
|
NM_014476.6(PDLIM3):c.440G>A (p.Arg147His)
|
rs528843301
|
0.00003
|
|
NM_014476.6(PDLIM3):c.812C>T (p.Thr271Met)
|
rs764497554
|
0.00003
|
|
NM_014476.6(PDLIM3):c.836C>T (p.Thr279Met)
|
rs150070443
|
0.00003
|
|
NM_014476.6(PDLIM3):c.964G>A (p.Asp322Asn)
|
rs774470984
|
0.00003
|
|
NM_014908.4(DOLK):c.1000A>T (p.Thr334Ser)
|
rs762835635
|
0.00003
|
|
NM_014908.4(DOLK):c.1130G>A (p.Arg377His)
|
rs374317240
|
0.00003
|
|
NM_014908.4(DOLK):c.1262T>C (p.Leu421Pro)
|
rs145125254
|
0.00003
|
|
NM_014908.4(DOLK):c.1333C>A (p.Leu445Met)
|
rs866088033
|
0.00003
|
|
NM_014908.4(DOLK):c.288G>C (p.Lys96Asn)
|
rs771259120
|
0.00003
|
|
NM_014908.4(DOLK):c.412A>G (p.Thr138Ala)
|
rs933514904
|
0.00003
|
|
NM_015374.3(SUN2):c.1663+4C>T
|
rs367645117
|
0.00003
|
|
NM_015374.3(SUN2):c.1831G>A (p.Ala611Thr)
|
rs754499171
|
0.00003
|
|
NM_015374.3(SUN2):c.231G>C (p.Glu77Asp)
|
rs760297349
|
0.00003
|
|
NM_015374.3(SUN2):c.362G>A (p.Arg121His)
|
rs200211836
|
0.00003
|
|
NM_015374.3(SUN2):c.458C>T (p.Ser153Leu)
|
rs374690791
|
0.00003
|
|
NM_015374.3(SUN2):c.604G>A (p.Val202Ile)
|
rs751598721
|
0.00003
|
|
NM_016203.4(PRKAG2):c.361A>G (p.Met121Val)
|
rs760511236
|
0.00003
|
|
NM_016203.4(PRKAG2):c.66C>T (p.Gly22=)
|
rs730880971
|
0.00003
|
|
NM_016203.4(PRKAG2):c.945A>G (p.Val315=)
|
rs759393540
|
0.00003
|
|
NM_016599.5(MYOZ2):c.19A>G (p.Met7Val)
|
rs746027670
|
0.00003
|
|
NM_016599.5(MYOZ2):c.751G>A (p.Glu251Lys)
|
rs752275226
|
0.00003
|
|
NM_020297.4(ABCC9):c.1012-7G>A
|
rs727502874
|
0.00003
|
|
NM_020297.4(ABCC9):c.1063G>T (p.Ala355Ser)
|
rs145455570
|
0.00003
|
|
NM_020297.4(ABCC9):c.1164+10G>A
|
rs876657427
|
0.00003
|
|
NM_020297.4(ABCC9):c.1329G>A (p.Met443Ile)
|
rs151197166
|
0.00003
|
|
NM_020297.4(ABCC9):c.1981C>T (p.Arg661Cys)
|
rs199499109
|
0.00003
|
|
NM_020297.4(ABCC9):c.2197A>G (p.Asn733Asp)
|
rs369604693
|
0.00003
|
|
NM_020297.4(ABCC9):c.2312C>T (p.Thr771Ile)
|
rs180739851
|
0.00003
|
|
NM_020297.4(ABCC9):c.2418A>T (p.Gly806=)
|
rs761421687
|
0.00003
|
|
NM_020297.4(ABCC9):c.2630C>T (p.Thr877Met)
|
rs140872303
|
0.00003
|
|
NM_020297.4(ABCC9):c.2644-3T>G
|
rs779917008
|
0.00003
|
|
NM_020297.4(ABCC9):c.2857G>A (p.Glu953Lys)
|
rs143685061
|
0.00003
|
|
NM_020297.4(ABCC9):c.2932C>A (p.Pro978Thr)
|
rs376874273
|
0.00003
|
|
NM_020297.4(ABCC9):c.2983A>G (p.Ile995Val)
|
rs374500043
|
0.00003
|
|
NM_020297.4(ABCC9):c.325G>A (p.Val109Met)
|
rs374849789
|
0.00003
|
|
NM_020297.4(ABCC9):c.3594G>A (p.Met1198Ile)
|
rs199900459
|
0.00003
|
|
NM_020297.4(ABCC9):c.3721G>A (p.Gly1241Arg)
|
rs960064997
|
0.00003
|
|
NM_020297.4(ABCC9):c.3913C>T (p.His1305Tyr)
|
rs753081604
|
0.00003
|
|
NM_020297.4(ABCC9):c.4512+693G>A
|
rs876657737
|
0.00003
|
|
NM_020433.5(JPH2):c.1078A>C (p.Asn360His)
|
rs747676827
|
0.00003
|
|
NM_020433.5(JPH2):c.1180G>A (p.Ala394Thr)
|
rs372515066
|
0.00003
|
|
NM_020433.5(JPH2):c.1363C>T (p.Arg455Trp)
|
rs767514641
|
0.00003
|
|
NM_020433.5(JPH2):c.1577C>T (p.Pro526Leu)
|
rs756327822
|
0.00003
|
|
NM_020433.5(JPH2):c.1715G>A (p.Arg572His)
|
rs763423903
|
0.00003
|
|
NM_020433.5(JPH2):c.1720A>G (p.Thr574Ala)
|
rs773306912
|
0.00003
|
|
NM_020433.5(JPH2):c.1858G>A (p.Ala620Thr)
|
rs769284597
|
0.00003
|
|
NM_020433.5(JPH2):c.1867G>C (p.Glu623Gln)
|
rs750828996
|
0.00003
|
|
NM_020433.5(JPH2):c.457G>A (p.Val153Met)
|
rs747722861
|
0.00003
|
|
NM_020433.5(JPH2):c.77A>G (p.His26Arg)
|
rs141664528
|
0.00003
|
|
NM_020433.5(JPH2):c.8G>A (p.Gly3Glu)
|
rs746138065
|
0.00003
|
|
NM_021044.4(DHH):c.80G>A (p.Arg27Gln)
|
rs779682957
|
0.00003
|
|
NM_021167.5(GATAD1):c.524A>G (p.Gln175Arg)
|
rs145592666
|
0.00003
|
|
NM_021167.5(GATAD1):c.539A>T (p.Glu180Val)
|
rs764831879
|
0.00003
|
|
NM_022114.4(PRDM16):c.1041G>A (p.Thr347=)
|
rs1200718124
|
0.00003
|
|
NM_022114.4(PRDM16):c.1762G>A (p.Val588Met)
|
rs768733228
|
0.00003
|
|
NM_022114.4(PRDM16):c.1954G>A (p.Gly652Ser)
|
rs376706452
|
0.00003
|
|
NM_022114.4(PRDM16):c.1984G>A (p.Val662Met)
|
rs1016599754
|
0.00003
|
|
NM_022114.4(PRDM16):c.2056A>G (p.Thr686Ala)
|
rs575376153
|
0.00003
|
|
NM_022114.4(PRDM16):c.205G>A (p.Glu69Lys)
|
rs779756897
|
0.00003
|
|
NM_022114.4(PRDM16):c.2209C>T (p.Leu737Phe)
|
rs764703147
|
0.00003
|
|
NM_022114.4(PRDM16):c.2260G>A (p.Glu754Lys)
|
rs369599647
|
0.00003
|
|
NM_022114.4(PRDM16):c.2458C>T (p.Arg820Trp)
|
rs748390268
|
0.00003
|
|
NM_022114.4(PRDM16):c.264G>T (p.Glu88Asp)
|
rs945163627
|
0.00003
|
|
NM_022114.4(PRDM16):c.2663G>A (p.Arg888Gln)
|
rs201119848
|
0.00003
|
|
NM_022114.4(PRDM16):c.3124G>A (p.Gly1042Arg)
|
rs768620911
|
0.00003
|
|
NM_022114.4(PRDM16):c.3211T>A (p.Ser1071Thr)
|
rs561896892
|
0.00003
|
|
NM_022114.4(PRDM16):c.3357G>C (p.Glu1119Asp)
|
rs756442796
|
0.00003
|
|
NM_022114.4(PRDM16):c.3385G>T (p.Asp1129Tyr)
|
rs776279865
|
0.00003
|
|
NM_022114.4(PRDM16):c.340G>A (p.Val114Met)
|
rs749076034
|
0.00003
|
|
NM_022114.4(PRDM16):c.353G>A (p.Arg118Gln)
|
rs538278091
|
0.00003
|
|
NM_022114.4(PRDM16):c.388C>G (p.Gln130Glu)
|
rs898082337
|
0.00003
|
|
NM_022114.4(PRDM16):c.413C>T (p.Ser138Leu)
|
rs552668116
|
0.00003
|
|
NM_022114.4(PRDM16):c.439-1G>C
|
rs891879209
|
0.00003
|
|
NM_022114.4(PRDM16):c.625C>T (p.His209Tyr)
|
rs533353039
|
0.00003
|
|
NM_022114.4(PRDM16):c.640G>A (p.Val214Ile)
|
rs754256903
|
0.00003
|
|
NM_022114.4(PRDM16):c.746A>G (p.Lys249Arg)
|
rs541077599
|
0.00003
|
|
NM_022114.4(PRDM16):c.776C>T (p.Ala259Val)
|
rs769041652
|
0.00003
|
|
NM_022114.4(PRDM16):c.872C>T (p.Pro291Leu)
|
rs397514744
|
0.00003
|
|
NM_024334.3(TMEM43):c.1112A>G (p.Tyr371Cys)
|
rs752269639
|
0.00003
|
|
NM_024334.3(TMEM43):c.1114C>T (p.Arg372Ter)
|
rs773224617
|
0.00003
|
|
NM_024334.3(TMEM43):c.403G>A (p.Glu135Lys)
|
rs140347235
|
0.00003
|
|
NM_024334.3(TMEM43):c.406G>A (p.Asp136Asn)
|
rs559271953
|
0.00003
|
|
NM_024334.3(TMEM43):c.644A>C (p.His215Pro)
|
rs730880225
|
0.00003
|
|
NM_024334.3(TMEM43):c.661C>T (p.Arg221Cys)
|
rs182464375
|
0.00003
|
|
NM_024334.3(TMEM43):c.748G>A (p.Gly250Ser)
|
rs371797765
|
0.00003
|
|
NM_024334.3(TMEM43):c.796C>T (p.Arg266Trp)
|
rs139842014
|
0.00003
|
|
NM_024334.3(TMEM43):c.83G>A (p.Arg28Gln)
|
rs757651177
|
0.00003
|
|
NM_024334.3(TMEM43):c.980C>G (p.Thr327Arg)
|
rs368111230
|
0.00003
|
|
NM_024422.6(DSC2):c.1018A>G (p.Thr340Ala)
|
rs368299411
|
0.00003
|
|
NM_024422.6(DSC2):c.1019C>A (p.Thr340Asn)
|
rs757065157
|
0.00003
|
|
NM_024422.6(DSC2):c.115G>A (p.Val39Ile)
|
rs1447651355
|
0.00003
|
|
NM_024422.6(DSC2):c.1537G>T (p.Asp513Tyr)
|
rs373324195
|
0.00003
|
|
NM_024422.6(DSC2):c.1663+4A>G
|
rs369849387
|
0.00003
|
|
NM_024422.6(DSC2):c.1814G>A (p.Gly605Asp)
|
rs1342808624
|
0.00003
|
|
NM_024422.6(DSC2):c.2036A>G (p.His679Arg)
|
rs145710244
|
0.00003
|
|
NM_024422.6(DSC2):c.2059G>A (p.Gly687Ser)
|
rs199616533
|
0.00003
|
|
NM_024422.6(DSC2):c.2126G>A (p.Cys709Tyr)
|
rs145831682
|
0.00003
|
|
NM_024422.6(DSC2):c.2624G>A (p.Arg875Gln)
|
rs535014010
|
0.00003
|
|
NM_024422.6(DSC2):c.321G>T (p.Lys107Asn)
|
rs140856220
|
0.00003
|
|
NM_024422.6(DSC2):c.395G>A (p.Arg132His)
|
rs375410133
|
0.00003
|
|
NM_024422.6(DSC2):c.595C>T (p.Arg199Cys)
|
rs769787593
|
0.00003
|
|
NM_024422.6(DSC2):c.601G>A (p.Val201Ile)
|
rs202058544
|
0.00003
|
|
NM_024422.6(DSC2):c.619G>C (p.Glu207Gln)
|
rs200634448
|
0.00003
|
|
NM_024422.6(DSC2):c.818C>T (p.Pro273Leu)
|
rs864622708
|
0.00003
|
|
NM_024422.6(DSC2):c.841A>G (p.Lys281Glu)
|
rs373697870
|
0.00003
|
|
NM_032578.4(MYPN):c.1013G>A (p.Arg338His)
|
rs149852773
|
0.00003
|
|
NM_032578.4(MYPN):c.1564G>A (p.Gly522Ser)
|
rs951303629
|
0.00003
|
|
NM_032578.4(MYPN):c.1724A>G (p.Lys575Arg)
|
rs1346961662
|
0.00003
|
|
NM_032578.4(MYPN):c.194C>T (p.Ala65Val)
|
rs147553723
|
0.00003
|
|
NM_032578.4(MYPN):c.2150C>T (p.Thr717Met)
|
rs141276802
|
0.00003
|
|
NM_032578.4(MYPN):c.2156G>C (p.Ser719Thr)
|
rs780584298
|
0.00003
|
|
NM_032578.4(MYPN):c.2164C>T (p.Arg722Trp)
|
rs749716608
|
0.00003
|
|
NM_032578.4(MYPN):c.2429G>A (p.Arg810His)
|
rs1021994218
|
0.00003
|
|
NM_032578.4(MYPN):c.2644G>A (p.Ala882Thr)
|
rs199476411
|
0.00003
|
|
NM_032578.4(MYPN):c.2654G>A (p.Arg885Gln)
|
rs370657396
|
0.00003
|
|
NM_032578.4(MYPN):c.2881C>G (p.Pro961Ala)
|
rs139996402
|
0.00003
|
|
NM_032578.4(MYPN):c.2972A>G (p.His991Arg)
|
rs181021602
|
0.00003
|
|
NM_032578.4(MYPN):c.3125G>A (p.Arg1042His)
|
rs140439935
|
0.00003
|
|
NM_032578.4(MYPN):c.3653G>A (p.Arg1218Lys)
|
rs768630077
|
0.00003
|
|
NM_032578.4(MYPN):c.3935G>A (p.Arg1312Gln)
|
rs761812034
|
0.00003
|
|
NM_032578.4(MYPN):c.410G>C (p.Arg137Thr)
|
rs765931465
|
0.00003
|
|
NM_032578.4(MYPN):c.466G>A (p.Asp156Asn)
|
rs1279871963
|
0.00003
|
|
NM_032578.4(MYPN):c.519T>G (p.Ile173Met)
|
rs769771296
|
0.00003
|
|
NM_032578.4(MYPN):c.650C>T (p.Ala217Val)
|
rs199476403
|
0.00003
|
|
NM_032578.4(MYPN):c.69A>C (p.Glu23Asp)
|
rs1200405630
|
0.00003
|
|
NM_032578.4(MYPN):c.890C>T (p.Pro297Leu)
|
rs138187845
|
0.00003
|
|
NM_033118.4(MYLK2):c.1380C>T (p.Ser460=)
|
rs777799897
|
0.00003
|
|
NM_033118.4(MYLK2):c.1505A>G (p.Asp502Gly)
|
rs759960723
|
0.00003
|
|
NM_033118.4(MYLK2):c.1625A>G (p.Asn542Ser)
|
rs775059729
|
0.00003
|
|
NM_033118.4(MYLK2):c.1626C>A (p.Asn542Lys)
|
rs368444888
|
0.00003
|
|
NM_033118.4(MYLK2):c.184G>A (p.Gly62Arg)
|
rs755363421
|
0.00003
|
|
NM_033118.4(MYLK2):c.293C>T (p.Pro98Leu)
|
rs766074380
|
0.00003
|
|
NM_144573.4(NEXN):c.1894G>C (p.Glu632Gln)
|
rs370965740
|
0.00003
|
|
NM_144573.4(NEXN):c.1997C>A (p.Thr666Asn)
|
rs749271412
|
0.00003
|
|
NM_144573.4(NEXN):c.379C>T (p.Arg127Cys)
|
rs771113424
|
0.00003
|
|
NM_144573.4(NEXN):c.422G>A (p.Arg141His)
|
rs761451693
|
0.00003
|
|
NM_144573.4(NEXN):c.634T>A (p.Tyr212Asn)
|
rs769549962
|
0.00003
|
|
NM_144573.4(NEXN):c.857G>A (p.Arg286Gln)
|
rs910594117
|
0.00003
|
|
NM_144573.4(NEXN):c.914A>G (p.Tyr305Cys)
|
rs541547470
|
0.00003
|
|
NM_145046.5(CALR3):c.21G>C (p.Gln7His)
|
rs201886703
|
0.00003
|
|
NM_145046.5(CALR3):c.34T>G (p.Cys12Gly)
|
rs764357332
|
0.00003
|
|
NM_152594.3(SPRED1):c.1202G>T (p.Cys401Phe)
|
rs779058019
|
0.00003
|
|
NM_152594.3(SPRED1):c.163T>C (p.Cys55Arg)
|
rs775334473
|
0.00003
|
|
NM_152594.3(SPRED1):c.181C>T (p.Arg61Cys)
|
rs765788978
|
0.00003
|
|
NM_152594.3(SPRED1):c.371C>T (p.Ser124Phe)
|
rs760132893
|
0.00003
|
|
NM_152594.3(SPRED1):c.385G>A (p.Glu129Lys)
|
rs764823722
|
0.00003
|
|
NM_152594.3(SPRED1):c.401C>G (p.Ala134Gly)
|
rs762633609
|
0.00003
|
|
NM_152594.3(SPRED1):c.42T>C (p.Tyr14=)
|
rs764234046
|
0.00003
|
|
NM_152594.3(SPRED1):c.864A>C (p.Lys288Asn)
|
rs777379558
|
0.00003
|
|
NM_152594.3(SPRED1):c.866A>C (p.Lys289Thr)
|
rs372665535
|
0.00003
|
|
NM_182914.3(SYNE2):c.10327G>A (p.Val3443Met)
|
rs564182126
|
0.00003
|
|
NM_182914.3(SYNE2):c.10393G>A (p.Glu3465Lys)
|
rs376654106
|
0.00003
|
|
NM_182914.3(SYNE2):c.10424G>A (p.Ser3475Asn)
|
rs769912217
|
0.00003
|
|
NM_182914.3(SYNE2):c.10454T>C (p.Leu3485Ser)
|
rs533363453
|
0.00003
|
|
NM_182914.3(SYNE2):c.10460A>C (p.Asn3487Thr)
|
rs776293614
|
0.00003
|
|
NM_182914.3(SYNE2):c.10639G>T (p.Ala3547Ser)
|
rs1198798280
|
0.00003
|
|
NM_182914.3(SYNE2):c.10947G>A (p.Met3649Ile)
|
rs772140514
|
0.00003
|
|
NM_182914.3(SYNE2):c.11323T>A (p.Cys3775Ser)
|
rs753899883
|
0.00003
|
|
NM_182914.3(SYNE2):c.11336A>G (p.Gln3779Arg)
|
rs538884693
|
0.00003
|
|
NM_182914.3(SYNE2):c.11441A>G (p.Tyr3814Cys)
|
rs780583186
|
0.00003
|
|
NM_182914.3(SYNE2):c.12529A>G (p.Met4177Val)
|
rs772354856
|
0.00003
|
|
NM_182914.3(SYNE2):c.12856A>C (p.Ile4286Leu)
|
rs763081757
|
0.00003
|
|
NM_182914.3(SYNE2):c.13670A>G (p.Tyr4557Cys)
|
rs1215002631
|
0.00003
|
|
NM_182914.3(SYNE2):c.13709C>T (p.Thr4570Met)
|
rs199750072
|
0.00003
|
|
NM_182914.3(SYNE2):c.13855G>T (p.Ala4619Ser)
|
rs374462333
|
0.00003
|
|
NM_182914.3(SYNE2):c.13861G>A (p.Ala4621Thr)
|
rs745357432
|
0.00003
|
|
NM_182914.3(SYNE2):c.14225C>T (p.Ala4742Val)
|
rs373034895
|
0.00003
|
|
NM_182914.3(SYNE2):c.14400A>G (p.Ile4800Met)
|
rs368522050
|
0.00003
|
|
NM_182914.3(SYNE2):c.14701G>A (p.Glu4901Lys)
|
rs766116136
|
0.00003
|
|
NM_182914.3(SYNE2):c.14962A>G (p.Ile4988Val)
|
rs912250826
|
0.00003
|
|
NM_182914.3(SYNE2):c.14980T>C (p.Phe4994Leu)
|
rs747348017
|
0.00003
|
|
NM_182914.3(SYNE2):c.15749G>A (p.Arg5250Gln)
|
rs201962497
|
0.00003
|
|
NM_182914.3(SYNE2):c.15792G>C (p.Gln5264His)
|
rs368363575
|
0.00003
|
|
NM_182914.3(SYNE2):c.16109A>C (p.Asn5370Thr)
|
rs760687493
|
0.00003
|
|
NM_182914.3(SYNE2):c.17177T>C (p.Val5726Ala)
|
rs944538946
|
0.00003
|
|
NM_182914.3(SYNE2):c.17188G>A (p.Glu5730Lys)
|
rs368540403
|
0.00003
|
|
NM_182914.3(SYNE2):c.17235+5T>C
|
rs777252251
|
0.00003
|
|
NM_182914.3(SYNE2):c.17444G>A (p.Cys5815Tyr)
|
rs143784708
|
0.00003
|
|
NM_182914.3(SYNE2):c.17692T>C (p.Trp5898Arg)
|
rs147971588
|
0.00003
|
|
NM_182914.3(SYNE2):c.18104G>A (p.Arg6035His)
|
rs963291095
|
0.00003
|
|
NM_182914.3(SYNE2):c.18379C>T (p.Arg6127Trp)
|
rs368136441
|
0.00003
|
|
NM_182914.3(SYNE2):c.18407G>A (p.Arg6136His)
|
rs761163756
|
0.00003
|
|
NM_182914.3(SYNE2):c.18440G>A (p.Arg6147His)
|
rs761124507
|
0.00003
|
|
NM_182914.3(SYNE2):c.18566G>A (p.Arg6189Gln)
|
rs751450273
|
0.00003
|
|
NM_182914.3(SYNE2):c.19394C>T (p.Ala6465Val)
|
rs762635611
|
0.00003
|
|
NM_182914.3(SYNE2):c.19609C>G (p.Pro6537Ala)
|
rs570564199
|
0.00003
|
|
NM_182914.3(SYNE2):c.19975C>T (p.Arg6659Cys)
|
rs35763782
|
0.00003
|
|
NM_182914.3(SYNE2):c.20039G>A (p.Arg6680Gln)
|
rs761684738
|
0.00003
|
|
NM_182914.3(SYNE2):c.20050A>G (p.Met6684Val)
|
rs1489141038
|
0.00003
|
|
NM_182914.3(SYNE2):c.20203G>A (p.Glu6735Lys)
|
rs138789938
|
0.00003
|
|
NM_182914.3(SYNE2):c.20314A>G (p.Ile6772Val)
|
rs566278939
|
0.00003
|
|
NM_182914.3(SYNE2):c.242G>A (p.Arg81Gln)
|
rs756729566
|
0.00003
|
|
NM_182914.3(SYNE2):c.2558C>G (p.Ser853Cys)
|
rs763133096
|
0.00003
|
|
NM_182914.3(SYNE2):c.2663C>T (p.Ser888Phe)
|
rs763645041
|
0.00003
|
|
NM_182914.3(SYNE2):c.2680G>A (p.Ala894Thr)
|
rs752011037
|
0.00003
|
|
NM_182914.3(SYNE2):c.3917C>A (p.Thr1306Lys)
|
rs749834245
|
0.00003
|
|
NM_182914.3(SYNE2):c.418C>G (p.Leu140Val)
|
rs761503203
|
0.00003
|
|
NM_182914.3(SYNE2):c.4513G>A (p.Val1505Met)
|
rs542064510
|
0.00003
|
|
NM_182914.3(SYNE2):c.4587A>G (p.Gln1529=)
|
rs774411048
|
0.00003
|
|
NM_182914.3(SYNE2):c.4742A>C (p.Lys1581Thr)
|
rs746066706
|
0.00003
|
|
NM_182914.3(SYNE2):c.4748A>T (p.Glu1583Val)
|
rs775635485
|
0.00003
|
|
NM_182914.3(SYNE2):c.5098G>A (p.Val1700Met)
|
rs372345929
|
0.00003
|
|
NM_182914.3(SYNE2):c.5159A>C (p.Glu1720Ala)
|
rs1013597826
|
0.00003
|
|
NM_182914.3(SYNE2):c.5174A>G (p.Asn1725Ser)
|
rs200554446
|
0.00003
|
|
NM_182914.3(SYNE2):c.6064T>C (p.Tyr2022His)
|
rs1264331455
|
0.00003
|
|
NM_182914.3(SYNE2):c.6329C>T (p.Pro2110Leu)
|
rs770940744
|
0.00003
|
|
NM_182914.3(SYNE2):c.7254A>G (p.Gln2418=)
|
rs984046422
|
0.00003
|
|
NM_182914.3(SYNE2):c.8474G>A (p.Arg2825Lys)
|
rs748757670
|
0.00003
|
|
NM_182914.3(SYNE2):c.8849A>C (p.Glu2950Ala)
|
rs540706990
|
0.00003
|
|
NM_182914.3(SYNE2):c.8905C>G (p.Leu2969Val)
|
rs773914389
|
0.00003
|
|
NM_182914.3(SYNE2):c.8968G>A (p.Ala2990Thr)
|
rs748085293
|
0.00003
|
|
NM_182914.3(SYNE2):c.9001C>G (p.Leu3001Val)
|
rs771518864
|
0.00003
|
|
NM_182914.3(SYNE2):c.9124G>C (p.Glu3042Gln)
|
rs1364501437
|
0.00003
|
|
NM_182961.4(SYNE1):c.10188T>G (p.Asp3396Glu)
|
rs374839445
|
0.00003
|
|
NM_182961.4(SYNE1):c.10268G>A (p.Arg3423Gln)
|
rs139691734
|
0.00003
|
|
NM_182961.4(SYNE1):c.10284G>T (p.Met3428Ile)
|
rs755180412
|
0.00003
|
|
NM_182961.4(SYNE1):c.10584T>G (p.His3528Gln)
|
rs192623867
|
0.00003
|
|
NM_182961.4(SYNE1):c.10726C>T (p.Arg3576Trp)
|
rs777447487
|
0.00003
|
|
NM_182961.4(SYNE1):c.10766C>T (p.Thr3589Ile)
|
rs201487756
|
0.00003
|
|
NM_182961.4(SYNE1):c.11362A>C (p.Lys3788Gln)
|
rs774322624
|
0.00003
|
|
NM_182961.4(SYNE1):c.11395G>A (p.Glu3799Lys)
|
rs879779013
|
0.00003
|
|
NM_182961.4(SYNE1):c.11595G>A (p.Thr3865=)
|
rs760332489
|
0.00003
|
|
NM_182961.4(SYNE1):c.12122G>A (p.Arg4041Gln)
|
rs771461121
|
0.00003
|
|
NM_182961.4(SYNE1):c.12351G>A (p.Thr4117=)
|
rs1272129870
|
0.00003
|
|
NM_182961.4(SYNE1):c.12388C>G (p.Gln4130Glu)
|
rs779969031
|
0.00003
|
|
NM_182961.4(SYNE1):c.13436G>A (p.Arg4479His)
|
rs768085752
|
0.00003
|
|
NM_182961.4(SYNE1):c.13727A>G (p.His4576Arg)
|
rs375344467
|
0.00003
|
|
NM_182961.4(SYNE1):c.13918T>C (p.Tyr4640His)
|
rs748256440
|
0.00003
|
|
NM_182961.4(SYNE1):c.13922T>A (p.Leu4641His)
|
rs199673397
|
0.00003
|
|
NM_182961.4(SYNE1):c.14033C>T (p.Ser4678Phe)
|
rs753473819
|
0.00003
|
|
NM_182961.4(SYNE1):c.14847G>C (p.Lys4949Asn)
|
rs762502490
|
0.00003
|
|
NM_182961.4(SYNE1):c.14990G>A (p.Arg4997Lys)
|
rs755654863
|
0.00003
|
|
NM_182961.4(SYNE1):c.15608A>G (p.Glu5203Gly)
|
rs375432465
|
0.00003
|
|
NM_182961.4(SYNE1):c.15794A>G (p.Gln5265Arg)
|
rs797046023
|
0.00003
|
|
NM_182961.4(SYNE1):c.15986A>C (p.Glu5329Ala)
|
rs886044412
|
0.00003
|
|
NM_182961.4(SYNE1):c.16132G>T (p.Ala5378Ser)
|
rs374220794
|
0.00003
|
|
NM_182961.4(SYNE1):c.17029T>C (p.Ser5677Pro)
|
rs373679435
|
0.00003
|
|
NM_182961.4(SYNE1):c.17270C>T (p.Ala5757Val)
|
rs766395351
|
0.00003
|
|
NM_182961.4(SYNE1):c.17656G>A (p.Ala5886Thr)
|
rs774189380
|
0.00003
|
|
NM_182961.4(SYNE1):c.17758G>A (p.Ala5920Thr)
|
rs765300968
|
0.00003
|
|
NM_182961.4(SYNE1):c.18194G>A (p.Arg6065Gln)
|
rs777432650
|
0.00003
|
|
NM_182961.4(SYNE1):c.18460G>T (p.Gly6154Cys)
|
rs528094877
|
0.00003
|
|
NM_182961.4(SYNE1):c.18622C>G (p.Gln6208Glu)
|
rs558425673
|
0.00003
|
|
NM_182961.4(SYNE1):c.18631G>A (p.Gly6211Ser)
|
rs149624155
|
0.00003
|
|
NM_182961.4(SYNE1):c.18679C>T (p.Arg6227Trp)
|
rs201873107
|
0.00003
|
|
NM_182961.4(SYNE1):c.18769G>A (p.Glu6257Lys)
|
rs551488589
|
0.00003
|
|
NM_182961.4(SYNE1):c.18930G>T (p.Gln6310His)
|
rs759556319
|
0.00003
|
|
NM_182961.4(SYNE1):c.18952G>A (p.Glu6318Lys)
|
rs758182381
|
0.00003
|
|
NM_182961.4(SYNE1):c.19022G>C (p.Gly6341Ala)
|
rs769384397
|
0.00003
|
|
NM_182961.4(SYNE1):c.19138G>A (p.Glu6380Lys)
|
rs758159968
|
0.00003
|
|
NM_182961.4(SYNE1):c.1943G>A (p.Arg648Gln)
|
rs768605521
|
0.00003
|
|
NM_182961.4(SYNE1):c.19483G>A (p.Val6495Met)
|
rs553508431
|
0.00003
|
|
NM_182961.4(SYNE1):c.19807G>C (p.Glu6603Gln)
|
rs140360127
|
0.00003
|
|
NM_182961.4(SYNE1):c.20164G>A (p.Glu6722Lys)
|
rs370571896
|
0.00003
|
|
NM_182961.4(SYNE1):c.20183G>A (p.Arg6728His)
|
rs139384691
|
0.00003
|
|
NM_182961.4(SYNE1):c.2030G>A (p.Arg677His)
|
rs767684007
|
0.00003
|
|
NM_182961.4(SYNE1):c.21189C>G (p.Asp7063Glu)
|
rs139062689
|
0.00003
|
|
NM_182961.4(SYNE1):c.21349A>T (p.Met7117Leu)
|
rs766914765
|
0.00003
|
|
NM_182961.4(SYNE1):c.21430A>G (p.Ser7144Gly)
|
rs759479600
|
0.00003
|
|
NM_182961.4(SYNE1):c.21815A>G (p.Lys7272Arg)
|
rs764715827
|
0.00003
|
|
NM_182961.4(SYNE1):c.2224G>A (p.Val742Ile)
|
rs777920461
|
0.00003
|
|
NM_182961.4(SYNE1):c.22559G>A (p.Arg7520His)
|
rs752057121
|
0.00003
|
|
NM_182961.4(SYNE1):c.22645C>T (p.Arg7549Cys)
|
rs549357903
|
0.00003
|
|
NM_182961.4(SYNE1):c.22663C>T (p.Arg7555Trp)
|
rs755302191
|
0.00003
|
|
NM_182961.4(SYNE1):c.22807C>G (p.Leu7603Val)
|
rs372246112
|
0.00003
|
|
NM_182961.4(SYNE1):c.22873G>C (p.Val7625Leu)
|
rs749743156
|
0.00003
|
|
NM_182961.4(SYNE1):c.23137C>T (p.Arg7713Cys)
|
rs761198027
|
0.00003
|
|
NM_182961.4(SYNE1):c.23582A>G (p.Lys7861Arg)
|
rs371656793
|
0.00003
|
|
NM_182961.4(SYNE1):c.23593C>T (p.Arg7865Trp)
|
rs749900550
|
0.00003
|
|
NM_182961.4(SYNE1):c.23875G>A (p.Ala7959Thr)
|
rs780029496
|
0.00003
|
|
NM_182961.4(SYNE1):c.2394+5G>A
|
rs199933019
|
0.00003
|
|
NM_182961.4(SYNE1):c.24038A>G (p.Asp8013Gly)
|
rs766207775
|
0.00003
|
|
NM_182961.4(SYNE1):c.241C>T (p.Arg81Cys)
|
rs375917264
|
0.00003
|
|
NM_182961.4(SYNE1):c.24226T>C (p.Cys8076Arg)
|
rs756023993
|
0.00003
|
|
NM_182961.4(SYNE1):c.24250G>A (p.Glu8084Lys)
|
rs373016793
|
0.00003
|
|
NM_182961.4(SYNE1):c.24499A>G (p.Ile8167Val)
|
rs147285387
|
0.00003
|
|
NM_182961.4(SYNE1):c.244C>T (p.Arg82Trp)
|
rs772761179
|
0.00003
|
|
NM_182961.4(SYNE1):c.2474C>T (p.Thr825Met)
|
rs777634676
|
0.00003
|
|
NM_182961.4(SYNE1):c.24779C>T (p.Ser8260Leu)
|
rs188852595
|
0.00003
|
|
NM_182961.4(SYNE1):c.24784G>A (p.Ala8262Thr)
|
rs886043013
|
0.00003
|
|
NM_182961.4(SYNE1):c.24802G>A (p.Glu8268Lys)
|
rs527527845
|
0.00003
|
|
NM_182961.4(SYNE1):c.24959G>A (p.Gly8320Glu)
|
rs748328529
|
0.00003
|
|
NM_182961.4(SYNE1):c.2759A>G (p.Lys920Arg)
|
rs1395937709
|
0.00003
|
|
NM_182961.4(SYNE1):c.337G>A (p.Asp113Asn)
|
rs990137456
|
0.00003
|
|
NM_182961.4(SYNE1):c.3404A>C (p.Glu1135Ala)
|
rs764928878
|
0.00003
|
|
NM_182961.4(SYNE1):c.3587C>T (p.Ser1196Phe)
|
rs886061212
|
0.00003
|
|
NM_182961.4(SYNE1):c.3911G>C (p.Gly1304Ala)
|
rs141164314
|
0.00003
|
|
NM_182961.4(SYNE1):c.4125A>T (p.Leu1375Phe)
|
rs544182159
|
0.00003
|
|
NM_182961.4(SYNE1):c.4257G>T (p.Gln1419His)
|
rs142705233
|
0.00003
|
|
NM_182961.4(SYNE1):c.4670T>G (p.Phe1557Cys)
|
rs373642960
|
0.00003
|
|
NM_182961.4(SYNE1):c.4735A>G (p.Ile1579Val)
|
rs138691290
|
0.00003
|
|
NM_182961.4(SYNE1):c.4909G>A (p.Glu1637Lys)
|
rs148885424
|
0.00003
|
|
NM_182961.4(SYNE1):c.495C>A (p.Ser165Arg)
|
rs567913785
|
0.00003
|
|
NM_182961.4(SYNE1):c.5491G>T (p.Gly1831Cys)
|
rs184779168
|
0.00003
|
|
NM_182961.4(SYNE1):c.6151G>C (p.Ala2051Pro)
|
rs376518010
|
0.00003
|
|
NM_182961.4(SYNE1):c.6984G>A (p.Met2328Ile)
|
rs372524102
|
0.00003
|
|
NM_182961.4(SYNE1):c.7304G>A (p.Arg2435His)
|
rs759461786
|
0.00003
|
|
NM_182961.4(SYNE1):c.7324C>A (p.Leu2442Ile)
|
rs747633088
|
0.00003
|
|
NM_182961.4(SYNE1):c.7989G>T (p.Arg2663=)
|
rs1268841274
|
0.00003
|
|
NM_182961.4(SYNE1):c.8056G>A (p.Gly2686Ser)
|
rs146916975
|
0.00003
|
|
NM_182961.4(SYNE1):c.8606T>C (p.Met2869Thr)
|
rs371025400
|
0.00003
|
|
NM_182961.4(SYNE1):c.9679G>A (p.Glu3227Lys)
|
rs1024177161
|
0.00003
|
|
NM_182961.4(SYNE1):c.9959C>T (p.Thr3320Met)
|
rs548283137
|
0.00003
|
|
NM_000018.4(ACADVL):c.1177A>G (p.Thr393Ala)
|
rs199840831
|
0.00002
|
|
NM_000018.4(ACADVL):c.1236G>C (p.Gln412His)
|
rs745355288
|
0.00002
|
|
NM_000018.4(ACADVL):c.1504C>G (p.Leu502Val)
|
rs779901247
|
0.00002
|
|
NM_000018.4(ACADVL):c.1555C>G (p.Leu519Val)
|
rs781063725
|
0.00002
|
|
NM_000018.4(ACADVL):c.1915A>C (p.Lys639Gln)
|
rs771122302
|
0.00002
|
|
NM_000018.4(ACADVL):c.340G>A (p.Glu114Lys)
|
rs557260142
|
0.00002
|
|
NM_000018.4(ACADVL):c.457G>T (p.Val153Leu)
|
rs894284973
|
0.00002
|
|
NM_000018.4(ACADVL):c.485G>A (p.Arg162His)
|
rs754756970
|
0.00002
|
|
NM_000018.4(ACADVL):c.499G>A (p.Val167Met)
|
rs199991742
|
0.00002
|
|
NM_000018.4(ACADVL):c.940G>A (p.Gly314Arg)
|
rs775669454
|
0.00002
|
|
NM_000023.4(SGCA):c.1109G>A (p.Arg370Gln)
|
rs779834721
|
0.00002
|
|
NM_000023.4(SGCA):c.1132G>A (p.Ala378Thr)
|
rs375692868
|
0.00002
|
|
NM_000023.4(SGCA):c.199C>G (p.Gln67Glu)
|
rs753180048
|
0.00002
|
|
NM_000023.4(SGCA):c.230G>A (p.Arg77His)
|
rs369340251
|
0.00002
|
|
NM_000023.4(SGCA):c.312+5C>T
|
rs377006294
|
0.00002
|
|
NM_000023.4(SGCA):c.58G>A (p.Asp20Asn)
|
rs759284746
|
0.00002
|
|
NM_000023.4(SGCA):c.724G>A (p.Val242Ile)
|
rs200166783
|
0.00002
|
|
NM_000116.5(TAFAZZIN):c.13G>T (p.Val5Leu)
|
rs397515737
|
0.00002
|
|
NM_000116.5(TAFAZZIN):c.154G>A (p.Glu52Lys)
|
rs794729166
|
0.00002
|
|
NM_000116.5(TAFAZZIN):c.254G>A (p.Arg85His)
|
rs782196269
|
0.00002
|
|
NM_000116.5(TAFAZZIN):c.331C>T (p.His111Tyr)
|
rs200405157
|
0.00002
|
|
NM_000116.5(TAFAZZIN):c.407G>T (p.Gly136Val)
|
rs782240044
|
0.00002
|
|
NM_000116.5(TAFAZZIN):c.437G>T (p.Gly146Val)
|
rs782401618
|
0.00002
|
|
NM_000116.5(TAFAZZIN):c.469G>A (p.Val157Ile)
|
rs782173851
|
0.00002
|
|
NM_000116.5(TAFAZZIN):c.606G>C (p.Glu202Asp)
|
rs781893396
|
0.00002
|
|
NM_000116.5(TAFAZZIN):c.768C>G (p.Asn256Lys)
|
rs926124671
|
0.00002
|
|
NM_000116.5(TAFAZZIN):c.779T>G (p.Val260Gly)
|
rs782746355
|
0.00002
|
|
NM_000117.3(EMD):c.137G>A (p.Arg46Gln)
|
rs941514119
|
0.00002
|
|
NM_000117.3(EMD):c.148C>T (p.Pro50Ser)
|
rs781936763
|
0.00002
|
|
NM_000117.3(EMD):c.241G>A (p.Asp81Asn)
|
rs141138209
|
0.00002
|
|
NM_000117.3(EMD):c.422C>T (p.Ser141Phe)
|
rs1262954618
|
0.00002
|
|
NM_000117.3(EMD):c.610C>T (p.Arg204Cys)
|
rs782299893
|
0.00002
|
|
NM_000117.3(EMD):c.704T>C (p.Phe235Ser)
|
rs782627156
|
0.00002
|
|
NM_000126.4(ETFA):c.148G>A (p.Glu50Lys)
|
rs780880209
|
0.00002
|
|
NM_000126.4(ETFA):c.919A>G (p.Ile307Val)
|
rs373896010
|
0.00002
|
|
NM_000126.4(ETFA):c.967G>A (p.Val323Ile)
|
rs1225887341
|
0.00002
|
|
NM_000152.5(GAA):c.1147A>G (p.Ile383Val)
|
rs794727837
|
0.00002
|
|
NM_000152.5(GAA):c.1165G>A (p.Glu389Lys)
|
rs749186162
|
0.00002
|
|
NM_000152.5(GAA):c.1307G>A (p.Arg436Gln)
|
rs748788550
|
0.00002
|
|
NM_000152.5(GAA):c.1378G>A (p.Glu460Lys)
|
rs771213237
|
0.00002
|
|
NM_000152.5(GAA):c.1387C>T (p.Arg463Trp)
|
rs199748889
|
0.00002
|
|
NM_000152.5(GAA):c.1388G>A (p.Arg463Gln)
|
rs886053545
|
0.00002
|
|
NM_000152.5(GAA):c.1437+6G>A
|
rs754249803
|
0.00002
|
|
NM_000152.5(GAA):c.1544T>C (p.Met515Thr)
|
rs1338245575
|
0.00002
|
|
NM_000152.5(GAA):c.1936G>A (p.Val646Ile)
|
rs770029932
|
0.00002
|
|
NM_000152.5(GAA):c.2164A>T (p.Thr722Ser)
|
rs774307734
|
0.00002
|
|
NM_000152.5(GAA):c.2404G>A (p.Gly802Arg)
|
rs148412962
|
0.00002
|
|
NM_000152.5(GAA):c.2444A>G (p.Asn815Ser)
|
rs1365945556
|
0.00002
|
|
NM_000152.5(GAA):c.2458G>T (p.Ala820Ser)
|
rs745378120
|
0.00002
|
|
NM_000152.5(GAA):c.2597A>T (p.Glu866Val)
|
rs951742543
|
0.00002
|
|
NM_000152.5(GAA):c.280C>A (p.Pro94Thr)
|
rs749496973
|
0.00002
|
|
NM_000152.5(GAA):c.370C>G (p.Gln124Glu)
|
rs1291571294
|
0.00002
|
|
NM_000152.5(GAA):c.412C>G (p.Leu138Val)
|
rs761221259
|
0.00002
|
|
NM_000152.5(GAA):c.446C>T (p.Thr149Met)
|
rs750628023
|
0.00002
|
|
NM_000152.5(GAA):c.614C>T (p.Pro205Leu)
|
rs775065551
|
0.00002
|
|
NM_000152.5(GAA):c.685C>T (p.Arg229Cys)
|
rs375295347
|
0.00002
|
|
NM_000152.5(GAA):c.859C>T (p.Pro287Ser)
|
rs369735511
|
0.00002
|
|
NM_000152.5(GAA):c.866C>T (p.Ala289Val)
|
rs145903608
|
0.00002
|
|
NM_000152.5(GAA):c.899C>T (p.Ala300Val)
|
rs1032949450
|
0.00002
|
|
NM_000152.5(GAA):c.971C>T (p.Pro324Leu)
|
rs750030887
|
0.00002
|
|
NM_000152.5(GAA):c.979G>A (p.Ala327Thr)
|
rs756562462
|
0.00002
|
|
NM_000182.5(HADHA):c.1418C>A (p.Ala473Asp)
|
rs772166712
|
0.00002
|
|
NM_000182.5(HADHA):c.1507G>A (p.Val503Met)
|
rs138386385
|
0.00002
|
|
NM_000182.5(HADHA):c.1596G>C (p.Gln532His)
|
rs1004898768
|
0.00002
|
|
NM_000182.5(HADHA):c.1889G>A (p.Arg630His)
|
rs150850348
|
0.00002
|
|
NM_000182.5(HADHA):c.1925G>T (p.Gly642Val)
|
rs766188621
|
0.00002
|
|
NM_000182.5(HADHA):c.199G>C (p.Glu67Gln)
|
rs781303622
|
0.00002
|
|
NM_000182.5(HADHA):c.386A>G (p.Lys129Arg)
|
rs769625802
|
0.00002
|
|
NM_000182.5(HADHA):c.560G>C (p.Arg187Thr)
|
rs146667859
|
0.00002
|
|
NM_000182.5(HADHA):c.677-3T>C
|
rs376306806
|
0.00002
|
|
NM_000182.5(HADHA):c.677G>A (p.Gly226Glu)
|
rs143919136
|
0.00002
|
|
NM_000182.5(HADHA):c.955G>A (p.Gly319Ser)
|
rs752317877
|
0.00002
|
|
NM_000231.3(SGCG):c.407A>G (p.Gln136Arg)
|
rs569816696
|
0.00002
|
|
NM_000231.3(SGCG):c.535G>A (p.Val179Met)
|
rs139072866
|
0.00002
|
|
NM_000231.3(SGCG):c.623G>T (p.Gly208Val)
|
rs778119056
|
0.00002
|
|
NM_000232.5(SGCB):c.14C>A (p.Ala5Glu)
|
rs886158091
|
0.00002
|
|
NM_000232.5(SGCB):c.251T>C (p.Leu84Pro)
|
rs138367908
|
0.00002
|
|
NM_000232.5(SGCB):c.355A>T (p.Ile119Phe)
|
rs762412447
|
0.00002
|
|
NM_000232.5(SGCB):c.419A>G (p.Asn140Ser)
|
rs775409967
|
0.00002
|
|
NM_000232.5(SGCB):c.668G>A (p.Arg223His)
|
rs754898211
|
0.00002
|
|
NM_000232.5(SGCB):c.835A>G (p.Ser279Gly)
|
rs565410997
|
0.00002
|
|
NM_000232.5(SGCB):c.850C>T (p.Arg284Cys)
|
rs545065102
|
0.00002
|
|
NM_000256.3(MYBPC3):c.1123G>A (p.Val375Met)
|
rs727503208
|
0.00002
|
|
NM_000256.3(MYBPC3):c.1291G>A (p.Asp431Asn)
|
rs753321277
|
0.00002
|
|
NM_000256.3(MYBPC3):c.133G>A (p.Gly45Arg)
|
rs775837337
|
0.00002
|
|
NM_000256.3(MYBPC3):c.1351+4G>A
|
rs777487971
|
0.00002
|
|
NM_000256.3(MYBPC3):c.1454A>G (p.Lys485Arg)
|
rs1185871136
|
0.00002
|
|
NM_000256.3(MYBPC3):c.1458-6G>A
|
rs375347534
|
0.00002
|
|
NM_000256.3(MYBPC3):c.1616T>C (p.Ile539Thr)
|
rs1158024707
|
0.00002
|
|
NM_000256.3(MYBPC3):c.1814A>G (p.Asp605Gly)
|
rs372371774
|
0.00002
|
|
NM_000256.3(MYBPC3):c.1915G>A (p.Val639Ile)
|
rs780907679
|
0.00002
|
|
NM_000256.3(MYBPC3):c.1960C>T (p.Arg654Cys)
|
rs397515939
|
0.00002
|
|
NM_000256.3(MYBPC3):c.1964T>C (p.Ile655Thr)
|
rs1189009603
|
0.00002
|
|
NM_000256.3(MYBPC3):c.2148+3G>A
|
rs368887584
|
0.00002
|
|
NM_000256.3(MYBPC3):c.2149-3C>T
|
rs113182334
|
0.00002
|
|
NM_000256.3(MYBPC3):c.2149-80G>A
|
rs1041197781
|
0.00002
|
|
NM_000256.3(MYBPC3):c.2171G>A (p.Arg724Gln)
|
rs756102881
|
0.00002
|
|
NM_000256.3(MYBPC3):c.2275G>A (p.Glu759Lys)
|
rs750810342
|
0.00002
|
|
NM_000256.3(MYBPC3):c.2500C>T (p.Arg834Trp)
|
rs752007810
|
0.00002
|
|
NM_000256.3(MYBPC3):c.251G>A (p.Gly84Asp)
|
rs569824900
|
0.00002
|
|
NM_000256.3(MYBPC3):c.2534G>A (p.Arg845His)
|
rs730880568
|
0.00002
|
|
NM_000256.3(MYBPC3):c.2654C>T (p.Thr885Met)
|
rs397515981
|
0.00002
|
|
NM_000256.3(MYBPC3):c.2682G>T (p.Glu894Asp)
|
rs369289966
|
0.00002
|
|
NM_000256.3(MYBPC3):c.2860G>A (p.Ala954Thr)
|
rs373744177
|
0.00002
|
|
NM_000256.3(MYBPC3):c.2968C>A (p.Pro990Thr)
|
rs776100156
|
0.00002
|
|
NM_000256.3(MYBPC3):c.296A>C (p.Lys99Thr)
|
rs1555123639
|
0.00002
|
|
NM_000256.3(MYBPC3):c.3072C>A (p.Ser1024Arg)
|
rs767605155
|
0.00002
|
|
NM_000256.3(MYBPC3):c.3097C>T (p.Arg1033Trp)
|
rs748909815
|
0.00002
|
|
NM_000256.3(MYBPC3):c.3103G>A (p.Ala1035Thr)
|
rs552505566
|
0.00002
|
|
NM_000256.3(MYBPC3):c.3143G>A (p.Arg1048His)
|
rs769018051
|
0.00002
|
|
NM_000256.3(MYBPC3):c.3170C>T (p.Thr1057Met)
|
rs754115924
|
0.00002
|
|
NM_000256.3(MYBPC3):c.3331G>A (p.Glu1111Lys)
|
rs1331702727
|
0.00002
|
|
NM_000256.3(MYBPC3):c.3346T>G (p.Leu1116Val)
|
rs370952321
|
0.00002
|
|
NM_000256.3(MYBPC3):c.3361C>T (p.Arg1121Cys)
|
rs747738308
|
0.00002
|
|
NM_000256.3(MYBPC3):c.3658G>A (p.Asp1220Asn)
|
rs1198000256
|
0.00002
|
|
NM_000256.3(MYBPC3):c.3683G>A (p.Arg1228His)
|
rs528940575
|
0.00002
|
|
NM_000256.3(MYBPC3):c.439C>T (p.Pro147Ser)
|
rs1204042102
|
0.00002
|
|
NM_000256.3(MYBPC3):c.46C>T (p.Pro16Ser)
|
rs730880573
|
0.00002
|
|
NM_000256.3(MYBPC3):c.49C>T (p.Arg17Trp)
|
rs747857800
|
0.00002
|
|
NM_000256.3(MYBPC3):c.505G>A (p.Gly169Ser)
|
rs886039212
|
0.00002
|
|
NM_000256.3(MYBPC3):c.596T>C (p.Leu199Pro)
|
rs878853835
|
0.00002
|
|
NM_000256.3(MYBPC3):c.682G>A (p.Asp228Asn)
|
rs369300885
|
0.00002
|
|
NM_000256.3(MYBPC3):c.712C>T (p.Arg238Cys)
|
rs771143409
|
0.00002
|
|
NM_000256.3(MYBPC3):c.713G>A (p.Arg238His)
|
rs727504396
|
0.00002
|
|
NM_000256.3(MYBPC3):c.771C>T (p.His257=)
|
rs1287380656
|
0.00002
|
|
NM_000256.3(MYBPC3):c.815G>A (p.Arg272His)
|
rs759515993
|
0.00002
|
|
NM_000256.3(MYBPC3):c.818G>A (p.Arg273His)
|
rs376461745
|
0.00002
|
|
NM_000256.3(MYBPC3):c.917G>A (p.Arg306Gln)
|
rs373204728
|
0.00002
|
|
NM_000257.4(MYH7):c.1046T>C (p.Met349Thr)
|
rs121913640
|
0.00002
|
|
NM_000257.4(MYH7):c.11C>T (p.Ser4Leu)
|
rs758659692
|
0.00002
|
|
NM_000257.4(MYH7):c.1334C>T (p.Ala445Val)
|
rs752349938
|
0.00002
|
|
NM_000257.4(MYH7):c.1384A>T (p.Ile462Phe)
|
rs397516105
|
0.00002
|
|
NM_000257.4(MYH7):c.1519G>A (p.Glu507Lys)
|
rs558212108
|
0.00002
|
|
NM_000257.4(MYH7):c.154G>A (p.Val52Met)
|
rs730880919
|
0.00002
|
|
NM_000257.4(MYH7):c.17T>C (p.Met6Thr)
|
rs779276614
|
0.00002
|
|
NM_000257.4(MYH7):c.1856C>T (p.Thr619Ile)
|
rs541143322
|
0.00002
|
|
NM_000257.4(MYH7):c.1913C>T (p.Ala638Val)
|
rs369935820
|
0.00002
|
|
NM_000257.4(MYH7):c.2420G>A (p.Arg807His)
|
rs141414377
|
0.00002
|
|
NM_000257.4(MYH7):c.2776C>G (p.Leu926Val)
|
rs575013686
|
0.00002
|
|
NM_000257.4(MYH7):c.2916G>C (p.Glu972Asp)
|
rs141191984
|
0.00002
|
|
NM_000257.4(MYH7):c.29G>C (p.Gly10Ala)
|
rs730880826
|
0.00002
|
|
NM_000257.4(MYH7):c.3035C>A (p.Ala1012Asp)
|
rs779973529
|
0.00002
|
|
NM_000257.4(MYH7):c.3037G>A (p.Glu1013Lys)
|
rs730880764
|
0.00002
|
|
NM_000257.4(MYH7):c.3056C>A (p.Thr1019Asn)
|
rs755392435
|
0.00002
|
|
NM_000257.4(MYH7):c.3236G>A (p.Arg1079Gln)
|
rs727504342
|
0.00002
|
|
NM_000257.4(MYH7):c.3301G>A (p.Gly1101Ser)
|
rs367546859
|
0.00002
|
|
NM_000257.4(MYH7):c.3475G>A (p.Val1159Met)
|
rs730880776
|
0.00002
|
|
NM_000257.4(MYH7):c.3479A>G (p.Gln1160Arg)
|
rs1376667533
|
0.00002
|
|
NM_000257.4(MYH7):c.3523C>T (p.Arg1175Trp)
|
rs566368210
|
0.00002
|
|
NM_000257.4(MYH7):c.3637G>A (p.Val1213Met)
|
rs397516182
|
0.00002
|
|
NM_000257.4(MYH7):c.3997C>G (p.Leu1333Val)
|
rs940589674
|
0.00002
|
|
NM_000257.4(MYH7):c.4052C>T (p.Thr1351Met)
|
rs370403289
|
0.00002
|
|
NM_000257.4(MYH7):c.4078G>A (p.Val1360Ile)
|
rs373231077
|
0.00002
|
|
NM_000257.4(MYH7):c.4170-5G>A
|
rs755468667
|
0.00002
|
|
NM_000257.4(MYH7):c.4197A>T (p.Glu1399Asp)
|
rs730880725
|
0.00002
|
|
NM_000257.4(MYH7):c.4558G>A (p.Gly1520Arg)
|
rs763683589
|
0.00002
|
|
NM_000257.4(MYH7):c.4687C>G (p.Leu1563Val)
|
rs376843222
|
0.00002
|
|
NM_000257.4(MYH7):c.4762C>T (p.Arg1588Cys)
|
rs1194197356
|
0.00002
|
|
NM_000257.4(MYH7):c.4831G>T (p.Ala1611Ser)
|
rs730880913
|
0.00002
|
|
NM_000257.4(MYH7):c.4916C>T (p.Ala1639Val)
|
rs1195157116
|
0.00002
|
|
NM_000257.4(MYH7):c.4996G>A (p.Asp1666Asn)
|
rs747993770
|
0.00002
|
|
NM_000257.4(MYH7):c.4998C>A (p.Asp1666Glu)
|
rs1423850061
|
0.00002
|
|
NM_000257.4(MYH7):c.5013C>G (p.Ile1671Met)
|
rs779978846
|
0.00002
|
|
NM_000257.4(MYH7):c.5020G>A (p.Val1674Met)
|
rs397516235
|
0.00002
|
|
NM_000257.4(MYH7):c.5090G>A (p.Arg1697Gln)
|
rs766831916
|
0.00002
|
|
NM_000257.4(MYH7):c.5096G>A (p.Arg1699Gln)
|
rs146778113
|
0.00002
|
|
NM_000257.4(MYH7):c.5467G>C (p.Glu1823Gln)
|
rs777147645
|
0.00002
|
|
NM_000257.4(MYH7):c.5485G>A (p.Glu1829Lys)
|
rs143562243
|
0.00002
|
|
NM_000257.4(MYH7):c.5800G>A (p.Glu1934Lys)
|
rs730880825
|
0.00002
|
|
NM_000257.4(MYH7):c.632C>T (p.Pro211Leu)
|
rs727503277
|
0.00002
|
|
NM_000257.4(MYH7):c.706G>A (p.Val236Ile)
|
rs397516261
|
0.00002
|
|
NM_000257.4(MYH7):c.733-3C>T
|
rs765068619
|
0.00002
|
|
NM_000257.4(MYH7):c.910A>T (p.Thr304Ser)
|
rs730880858
|
0.00002
|
|
NM_000258.3(MYL3):c.136T>C (p.Phe46Leu)
|
rs730880953
|
0.00002
|
|
NM_000258.3(MYL3):c.140C>T (p.Thr47Ile)
|
rs778515428
|
0.00002
|
|
NM_000258.3(MYL3):c.152T>C (p.Ile51Thr)
|
rs749017586
|
0.00002
|
|
NM_000258.3(MYL3):c.187C>T (p.Arg63Cys)
|
rs565312070
|
0.00002
|
|
NM_000258.3(MYL3):c.280C>T (p.Arg94Cys)
|
rs730880961
|
0.00002
|
|
NM_000258.3(MYL3):c.294G>T (p.Lys98Asn)
|
rs769503169
|
0.00002
|
|
NM_000258.3(MYL3):c.461G>A (p.Arg154His)
|
rs104893749
|
0.00002
|
|
NM_000258.3(MYL3):c.530A>G (p.Glu177Gly)
|
rs193922391
|
0.00002
|
|
NM_000258.3(MYL3):c.61C>T (p.Pro21Ser)
|
rs779557153
|
0.00002
|
|
NM_000337.6(SGCD):c.1A>G (p.Met1Val)
|
rs756367674
|
0.00002
|
|
NM_000337.6(SGCD):c.294+3A>G
|
rs766462865
|
0.00002
|
|
NM_000337.6(SGCD):c.298A>C (p.Asn100His)
|
rs1436273126
|
0.00002
|
|
NM_000337.6(SGCD):c.3+2T>A
|
rs753979573
|
0.00002
|
|
NM_000337.6(SGCD):c.32G>A (p.Arg11Gln)
|
rs752548592
|
0.00002
|
|
NM_000337.6(SGCD):c.401C>T (p.Ala134Val)
|
rs776098396
|
0.00002
|
|
NM_000337.6(SGCD):c.575+6C>T
|
rs886044432
|
0.00002
|
|
NM_000337.6(SGCD):c.749C>T (p.Ser250Phe)
|
rs781628137
|
0.00002
|
|
NM_000337.6(SGCD):c.91C>T (p.Arg31Trp)
|
rs202223676
|
0.00002
|
|
NM_000337.6(SGCD):c.98G>A (p.Arg33Gln)
|
rs1488623227
|
0.00002
|
|
NM_000363.5(TNNI3):c.143A>C (p.Gln48Pro)
|
rs200720341
|
0.00002
|
|
NM_000363.5(TNNI3):c.168T>G (p.Ile56Met)
|
rs727503509
|
0.00002
|
|
NM_000363.5(TNNI3):c.347C>G (p.Ala116Gly)
|
rs777177571
|
0.00002
|
|
NM_000363.5(TNNI3):c.439G>C (p.Val147Leu)
|
rs777782551
|
0.00002
|
|
NM_000363.5(TNNI3):c.550-8T>A
|
rs766762049
|
0.00002
|
|
NM_000363.5(TNNI3):c.92C>T (p.Thr31Met)
|
rs201928445
|
0.00002
|
|
NM_000371.4(TTR):c.209G>A (p.Ser70Asn)
|
rs121918080
|
0.00002
|
|
NM_000432.4(MYL2):c.163G>T (p.Ala55Ser)
|
rs727504425
|
0.00002
|
|
NM_000432.4(MYL2):c.184A>T (p.Lys62Ter)
|
rs201728041
|
0.00002
|
|
NM_000432.4(MYL2):c.203A>G (p.Glu68Gly)
|
rs752456288
|
0.00002
|
|
NM_000432.4(MYL2):c.256T>C (p.Phe86Leu)
|
rs765287559
|
0.00002
|
|
NM_000432.4(MYL2):c.355G>A (p.Val119Ile)
|
rs730880940
|
0.00002
|
|
NM_000432.4(MYL2):c.380C>T (p.Ala127Val)
|
rs141878747
|
0.00002
|
|
NM_000432.4(MYL2):c.402+6G>C
|
rs749765328
|
0.00002
|
|
NM_000432.4(MYL2):c.430C>G (p.Pro144Ala)
|
rs777689913
|
0.00002
|
|
NM_000432.4(MYL2):c.431C>G (p.Pro144Arg)
|
rs755993281
|
0.00002
|
|
NM_000432.4(MYL2):c.436G>A (p.Val146Met)
|
rs370075755
|
0.00002
|
|
NM_001005242.3(PKP2):c.1045A>G (p.Met349Val)
|
rs199957846
|
0.00002
|
|
NM_001005242.3(PKP2):c.1127T>C (p.Phe376Ser)
|
rs56869013
|
0.00002
|
|
NM_001005242.3(PKP2):c.1183C>T (p.Arg395Cys)
|
rs761238380
|
0.00002
|
|
NM_001005242.3(PKP2):c.1322G>A (p.Arg441Gln)
|
rs753912985
|
0.00002
|
|
NM_001005242.3(PKP2):c.1379-1972G>A
|
rs779392697
|
0.00002
|
|
NM_001005242.3(PKP2):c.1379-2012C>T
|
rs760461056
|
0.00002
|
|
NM_001005242.3(PKP2):c.1379-2103A>G
|
rs764608036
|
0.00002
|
|
NM_001005242.3(PKP2):c.1483C>G (p.Pro495Ala)
|
rs543325231
|
0.00002
|
|
NM_001005242.3(PKP2):c.1510G>T (p.Gly504Cys)
|
rs374641292
|
0.00002
|
|
NM_001005242.3(PKP2):c.155A>G (p.Lys52Arg)
|
rs549598534
|
0.00002
|
|
NM_001005242.3(PKP2):c.1610G>A (p.Gly537Glu)
|
rs866789949
|
0.00002
|
|
NM_001005242.3(PKP2):c.1820G>A (p.Arg607Gln)
|
rs763648594
|
0.00002
|
|
NM_001005242.3(PKP2):c.193G>T (p.Ala65Ser)
|
rs143323961
|
0.00002
|
|
NM_001005242.3(PKP2):c.1943A>G (p.Lys648Arg)
|
rs776915959
|
0.00002
|
|
NM_001005242.3(PKP2):c.1952G>A (p.Arg651His)
|
rs758813231
|
0.00002
|
|
NM_001005242.3(PKP2):c.2068A>G (p.Thr690Ala)
|
rs867374780
|
0.00002
|
|
NM_001005242.3(PKP2):c.2072G>A (p.Arg691Gln)
|
rs547215531
|
0.00002
|
|
NM_001005242.3(PKP2):c.2140C>T (p.Arg714Trp)
|
rs537046857
|
0.00002
|
|
NM_001005242.3(PKP2):c.2234T>C (p.Ile745Thr)
|
rs543233804
|
0.00002
|
|
NM_001005242.3(PKP2):c.2404T>G (p.Ser802Ala)
|
rs1183143350
|
0.00002
|
|
NM_001005242.3(PKP2):c.2420C>T (p.Thr807Met)
|
rs146118033
|
0.00002
|
|
NM_001005242.3(PKP2):c.2454T>G (p.Phe818Leu)
|
rs1408272849
|
0.00002
|
|
NM_001005242.3(PKP2):c.2483C>T (p.Thr828Ile)
|
rs370599966
|
0.00002
|
|
NM_001005242.3(PKP2):c.288T>G (p.Asp96Glu)
|
rs762825735
|
0.00002
|
|
NM_001005242.3(PKP2):c.361G>A (p.Gly121Ser)
|
rs1295581142
|
0.00002
|
|
NM_001005242.3(PKP2):c.382G>A (p.Ala128Thr)
|
rs1193697338
|
0.00002
|
|
NM_001005242.3(PKP2):c.418T>A (p.Ser140Thr)
|
rs727503373
|
0.00002
|
|
NM_001005242.3(PKP2):c.587G>A (p.Arg196His)
|
rs146566525
|
0.00002
|
|
NM_001005242.3(PKP2):c.602G>A (p.Gly201Glu)
|
rs757316313
|
0.00002
|
|
NM_001005242.3(PKP2):c.68G>A (p.Gly23Glu)
|
rs746530389
|
0.00002
|
|
NM_001005242.3(PKP2):c.818C>T (p.Pro273Leu)
|
rs878943755
|
0.00002
|
|
NM_001005242.3(PKP2):c.976G>A (p.Ala326Thr)
|
rs148480056
|
0.00002
|
|
NM_001018005.2(TPM1):c.841A>G (p.Met281Val)
|
rs397516394
|
0.00002
|
|
NM_001035.3(RYR2):c.10258G>A (p.Val3420Ile)
|
rs397516497
|
0.00002
|
|
NM_001035.3(RYR2):c.10360C>T (p.Arg3454Cys)
|
rs773252606
|
0.00002
|
|
NM_001035.3(RYR2):c.10373G>A (p.Arg3458Gln)
|
rs762944627
|
0.00002
|
|
NM_001035.3(RYR2):c.10444G>A (p.Ala3482Thr)
|
rs757656504
|
0.00002
|
|
NM_001035.3(RYR2):c.10517G>A (p.Arg3506Gln)
|
rs748805290
|
0.00002
|
|
NM_001035.3(RYR2):c.1066T>C (p.Tyr356His)
|
rs794728718
|
0.00002
|
|
NM_001035.3(RYR2):c.10708C>T (p.Arg3570Trp)
|
rs765835441
|
0.00002
|
|
NM_001035.3(RYR2):c.11018G>A (p.Arg3673Gln)
|
rs778111237
|
0.00002
|
|
NM_001035.3(RYR2):c.11090A>G (p.Lys3697Arg)
|
rs754610757
|
0.00002
|
|
NM_001035.3(RYR2):c.1166G>A (p.Arg389His)
|
rs200685968
|
0.00002
|
|
NM_001035.3(RYR2):c.12091A>G (p.Thr4031Ala)
|
rs755148895
|
0.00002
|
|
NM_001035.3(RYR2):c.12160A>G (p.Ser4054Gly)
|
rs376781046
|
0.00002
|
|
NM_001035.3(RYR2):c.12674G>A (p.Arg4225Lys)
|
rs1223110750
|
0.00002
|
|
NM_001035.3(RYR2):c.1319C>T (p.Ala440Val)
|
rs758904216
|
0.00002
|
|
NM_001035.3(RYR2):c.13411G>A (p.Gly4471Arg)
|
rs794728797
|
0.00002
|
|
NM_001035.3(RYR2):c.13477-18A>G
|
rs1381666659
|
0.00002
|
|
NM_001035.3(RYR2):c.1354G>A (p.Val452Ile)
|
rs375218751
|
0.00002
|
|
NM_001035.3(RYR2):c.13563+4C>T
|
rs926460699
|
0.00002
|
|
NM_001035.3(RYR2):c.143T>C (p.Phe48Ser)
|
rs774559907
|
0.00002
|
|
NM_001035.3(RYR2):c.1476+3C>T
|
rs1387762631
|
0.00002
|
|
NM_001035.3(RYR2):c.1613C>T (p.Ala538Val)
|
rs1461019181
|
0.00002
|
|
NM_001035.3(RYR2):c.1614G>A (p.Ala538=)
|
rs566885717
|
0.00002
|
|
NM_001035.3(RYR2):c.1707A>G (p.Ser569=)
|
rs757215216
|
0.00002
|
|
NM_001035.3(RYR2):c.1940G>A (p.Arg647His)
|
rs766330093
|
0.00002
|
|
NM_001035.3(RYR2):c.2251A>G (p.Thr751Ala)
|
rs878854154
|
0.00002
|
|
NM_001035.3(RYR2):c.2506C>A (p.His836Asn)
|
rs760544949
|
0.00002
|
|
NM_001035.3(RYR2):c.2615T>C (p.Ile872Thr)
|
rs749607906
|
0.00002
|
|
NM_001035.3(RYR2):c.3163C>T (p.Arg1055Cys)
|
rs754181384
|
0.00002
|
|
NM_001035.3(RYR2):c.322G>A (p.Gly108Ser)
|
rs1431073529
|
0.00002
|
|
NM_001035.3(RYR2):c.3484G>A (p.Val1162Met)
|
rs377030538
|
0.00002
|
|
NM_001035.3(RYR2):c.364C>T (p.Arg122Cys)
|
rs397516527
|
0.00002
|
|
NM_001035.3(RYR2):c.36G>C (p.Gln12His)
|
rs746811389
|
0.00002
|
|
NM_001035.3(RYR2):c.4161-5T>C
|
rs1416816823
|
0.00002
|
|
NM_001035.3(RYR2):c.458C>T (p.Thr153Ile)
|
rs766802574
|
0.00002
|
|
NM_001035.3(RYR2):c.4596+6C>T
|
rs766080208
|
0.00002
|
|
NM_001035.3(RYR2):c.469G>T (p.Ala157Ser)
|
rs753443369
|
0.00002
|
|
NM_001035.3(RYR2):c.4733C>G (p.Pro1578Arg)
|
rs765351308
|
0.00002
|
|
NM_001035.3(RYR2):c.5006A>G (p.Asn1669Ser)
|
rs727503400
|
0.00002
|
|
NM_001035.3(RYR2):c.5096G>A (p.Arg1699His)
|
rs779464111
|
0.00002
|
|
NM_001035.3(RYR2):c.556G>A (p.Val186Met)
|
rs201211033
|
0.00002
|
|
NM_001035.3(RYR2):c.5801C>T (p.Ala1934Val)
|
rs368009389
|
0.00002
|
|
NM_001035.3(RYR2):c.5825T>G (p.Phe1942Cys)
|
rs397516546
|
0.00002
|
|
NM_001035.3(RYR2):c.5917A>G (p.Ile1973Val)
|
rs780681855
|
0.00002
|
|
NM_001035.3(RYR2):c.6013A>G (p.Thr2005Ala)
|
rs373235823
|
0.00002
|
|
NM_001035.3(RYR2):c.6254T>C (p.Phe2085Ser)
|
rs762814340
|
0.00002
|
|
NM_001035.3(RYR2):c.6284T>C (p.Ile2095Thr)
|
rs142498105
|
0.00002
|
|
NM_001035.3(RYR2):c.7060G>T (p.Ala2354Ser)
|
rs773070579
|
0.00002
|
|
NM_001035.3(RYR2):c.7063G>A (p.Glu2355Lys)
|
rs754990305
|
0.00002
|
|
NM_001035.3(RYR2):c.7375G>A (p.Gly2459Arg)
|
rs1481363942
|
0.00002
|
|
NM_001035.3(RYR2):c.782A>G (p.His261Arg)
|
rs577416427
|
0.00002
|
|
NM_001035.3(RYR2):c.8018C>T (p.Ala2673Val)
|
rs869025513
|
0.00002
|
|
NM_001035.3(RYR2):c.8130T>G (p.Asn2710Lys)
|
rs876661388
|
0.00002
|
|
NM_001035.3(RYR2):c.8357G>C (p.Gly2786Ala)
|
rs1060500149
|
0.00002
|
|
NM_001035.3(RYR2):c.8398C>G (p.Leu2800Val)
|
rs1060500143
|
0.00002
|
|
NM_001035.3(RYR2):c.8470C>T (p.Arg2824Trp)
|
rs796052204
|
0.00002
|
|
NM_001035.3(RYR2):c.8696A>G (p.Asn2899Ser)
|
rs1057524444
|
0.00002
|
|
NM_001035.3(RYR2):c.8749A>G (p.Ile2917Val)
|
rs981753891
|
0.00002
|
|
NM_001035.3(RYR2):c.9094T>G (p.Cys3032Gly)
|
rs193007458
|
0.00002
|
|
NM_001035.3(RYR2):c.9561G>C (p.Lys3187Asn)
|
rs1060500168
|
0.00002
|
|
NM_001035.3(RYR2):c.9641T>A (p.Leu3214His)
|
rs752385143
|
0.00002
|
|
NM_001035.3(RYR2):c.9673G>A (p.Gly3225Ser)
|
rs780484631
|
0.00002
|
|
NM_001035.3(RYR2):c.9743G>A (p.Arg3248His)
|
rs1041429670
|
0.00002
|
|
NM_001103.4(ACTN2):c.1108-3C>T
|
rs372488913
|
0.00002
|
|
NM_001103.4(ACTN2):c.1594A>T (p.Met532Leu)
|
rs200969588
|
0.00002
|
|
NM_001103.4(ACTN2):c.1918C>T (p.Arg640Cys)
|
rs769453411
|
0.00002
|
|
NM_001103.4(ACTN2):c.2039A>G (p.Gln680Arg)
|
rs756567639
|
0.00002
|
|
NM_001103.4(ACTN2):c.2138C>T (p.Thr713Met)
|
rs764538888
|
0.00002
|
|
NM_001103.4(ACTN2):c.2154+4C>T
|
rs1342624709
|
0.00002
|
|
NM_001103.4(ACTN2):c.2154+5G>A
|
rs767655336
|
0.00002
|
|
NM_001103.4(ACTN2):c.2356G>A (p.Gly786Ser)
|
rs1012982310
|
0.00002
|
|
NM_001103.4(ACTN2):c.2377G>A (p.Glu793Lys)
|
rs145450474
|
0.00002
|
|
NM_001103.4(ACTN2):c.2386C>T (p.Arg796Cys)
|
rs397516574
|
0.00002
|
|
NM_001103.4(ACTN2):c.265C>T (p.Arg89Trp)
|
rs369629689
|
0.00002
|
|
NM_001103.4(ACTN2):c.536+6C>G
|
rs771398006
|
0.00002
|
|
NM_001103.4(ACTN2):c.59T>C (p.Met20Thr)
|
rs776456711
|
0.00002
|
|
NM_001103.4(ACTN2):c.646A>G (p.Met216Val)
|
rs749019847
|
0.00002
|
|
NM_001103.4(ACTN2):c.6C>A (p.Asn2Lys)
|
rs755508640
|
0.00002
|
|
NM_001103.4(ACTN2):c.703G>A (p.Val235Met)
|
rs754929573
|
0.00002
|
|
NM_001103.4(ACTN2):c.767T>C (p.Phe256Ser)
|
rs1337069615
|
0.00002
|
|
NM_001103.4(ACTN2):c.892C>T (p.Arg298Cys)
|
rs1060503683
|
0.00002
|
|
NM_001103.4(ACTN2):c.979C>T (p.Arg327Cys)
|
rs769485633
|
0.00002
|
|
NM_001105206.3(LAMA4):c.1077+4C>T
|
rs1192025877
|
0.00002
|
|
NM_001105206.3(LAMA4):c.1559A>G (p.Gln520Arg)
|
rs557735032
|
0.00002
|
|
NM_001105206.3(LAMA4):c.1669-6C>G
|
rs561096787
|
0.00002
|
|
NM_001105206.3(LAMA4):c.1808A>T (p.Glu603Val)
|
rs781829812
|
0.00002
|
|
NM_001105206.3(LAMA4):c.1813A>G (p.Ser605Gly)
|
rs112884471
|
0.00002
|
|
NM_001105206.3(LAMA4):c.191C>T (p.Ala64Val)
|
rs376091454
|
0.00002
|
|
NM_001105206.3(LAMA4):c.1961C>T (p.Ala654Val)
|
rs782806847
|
0.00002
|
|
NM_001105206.3(LAMA4):c.2054C>T (p.Ser685Phe)
|
rs369776441
|
0.00002
|
|
NM_001105206.3(LAMA4):c.2185C>G (p.Gln729Glu)
|
rs782640387
|
0.00002
|
|
NM_001105206.3(LAMA4):c.2225A>G (p.Asn742Ser)
|
rs374279330
|
0.00002
|
|
NM_001105206.3(LAMA4):c.247G>A (p.Asp83Asn)
|
rs531319918
|
0.00002
|
|
NM_001105206.3(LAMA4):c.2603C>G (p.Pro868Arg)
|
rs368543835
|
0.00002
|
|
NM_001105206.3(LAMA4):c.2906A>G (p.Asp969Gly)
|
rs1554332964
|
0.00002
|
|
NM_001105206.3(LAMA4):c.3238C>T (p.Arg1080Ter)
|
rs372615994
|
0.00002
|
|
NM_001105206.3(LAMA4):c.3277A>G (p.Asn1093Asp)
|
rs782550866
|
0.00002
|
|
NM_001105206.3(LAMA4):c.3436G>A (p.Asp1146Asn)
|
rs782492885
|
0.00002
|
|
NM_001105206.3(LAMA4):c.3506C>T (p.Pro1169Leu)
|
rs730880123
|
0.00002
|
|
NM_001105206.3(LAMA4):c.3557+4A>G
|
rs781832125
|
0.00002
|
|
NM_001105206.3(LAMA4):c.3559G>A (p.Ala1187Thr)
|
rs781943786
|
0.00002
|
|
NM_001105206.3(LAMA4):c.3754T>A (p.Ser1252Thr)
|
rs782693786
|
0.00002
|
|
NM_001105206.3(LAMA4):c.392C>T (p.Pro131Leu)
|
rs374273620
|
0.00002
|
|
NM_001105206.3(LAMA4):c.4183G>A (p.Val1395Ile)
|
rs782627670
|
0.00002
|
|
NM_001105206.3(LAMA4):c.4274G>A (p.Ser1425Asn)
|
rs782173105
|
0.00002
|
|
NM_001105206.3(LAMA4):c.475G>A (p.Glu159Lys)
|
rs540626879
|
0.00002
|
|
NM_001105206.3(LAMA4):c.4972G>A (p.Val1658Met)
|
rs149555058
|
0.00002
|
|
NM_001105206.3(LAMA4):c.5440G>A (p.Ala1814Thr)
|
rs1048588170
|
0.00002
|
|
NM_001105206.3(LAMA4):c.5458T>C (p.Cys1820Arg)
|
rs782706577
|
0.00002
|
|
NM_001122630.2(CDKN1C):c.17C>T (p.Ala6Val)
|
rs1477196859
|
0.00002
|
|
NM_001122630.2(CDKN1C):c.193C>T (p.Arg65Cys)
|
rs750526402
|
0.00002
|
|
NM_001122630.2(CDKN1C):c.461T>C (p.Val154Ala)
|
rs1191295512
|
0.00002
|
|
NM_001122630.2(CDKN1C):c.527C>T (p.Ala176Val)
|
rs1443539133
|
0.00002
|
|
NM_001122630.2(CDKN1C):c.542C>G (p.Pro181Arg)
|
rs1377428359
|
0.00002
|
|
NM_001122630.2(CDKN1C):c.569C>T (p.Ala190Val)
|
rs1489659757
|
0.00002
|
|
NM_001122630.2(CDKN1C):c.577C>G (p.Pro193Ala)
|
rs1345683292
|
0.00002
|
|
NM_001122630.2(CDKN1C):c.611C>A (p.Ala204Asp)
|
rs1060500176
|
0.00002
|
|
NM_001122630.2(CDKN1C):c.712C>T (p.Arg238Cys)
|
rs878853641
|
0.00002
|
|
NM_001122630.2(CDKN1C):c.730G>A (p.Ala244Thr)
|
rs760038657
|
0.00002
|
|
NM_001122630.2(CDKN1C):c.827C>T (p.Ser276Leu)
|
rs928007699
|
0.00002
|
|
NM_001130965.3(SUN1):c.1229C>T (p.Ser410Leu)
|
rs963866352
|
0.00002
|
|
NM_001130965.3(SUN1):c.1296A>G (p.Glu432=)
|
rs761026434
|
0.00002
|
|
NM_001130965.3(SUN1):c.1958A>G (p.Gln653Arg)
|
rs573186073
|
0.00002
|
|
NM_001130965.3(SUN1):c.555C>G (p.Cys185Trp)
|
rs776947421
|
0.00002
|
|
NM_001130965.3(SUN1):c.5A>C (p.Asp2Ala)
|
rs199693265
|
0.00002
|
|
NM_001130965.3(SUN1):c.720G>A (p.Thr240=)
|
rs186121469
|
0.00002
|
|
NM_001134363.3(RBM20):c.1201G>A (p.Asp401Asn)
|
rs950210735
|
0.00002
|
|
NM_001134363.3(RBM20):c.1338-1G>T
|
rs1265727354
|
0.00002
|
|
NM_001134363.3(RBM20):c.2572G>A (p.Gly858Ser)
|
rs1361625543
|
0.00002
|
|
NM_001134363.3(RBM20):c.2599G>A (p.Gly867Ser)
|
rs1218437735
|
0.00002
|
|
NM_001134363.3(RBM20):c.2764G>A (p.Val922Met)
|
rs947100716
|
0.00002
|
|
NM_001134363.3(RBM20):c.2815G>A (p.Asp939Asn)
|
rs1442138837
|
0.00002
|
|
NM_001134363.3(RBM20):c.419C>T (p.Pro140Leu)
|
rs977645949
|
0.00002
|
|
NM_001134363.3(RBM20):c.5T>C (p.Val2Ala)
|
rs996172004
|
0.00002
|
|
NM_001134363.3(RBM20):c.710G>T (p.Gly237Val)
|
rs761557813
|
0.00002
|
|
NM_001134363.3(RBM20):c.832T>C (p.Phe278Leu)
|
rs1014048064
|
0.00002
|
|
NM_001159699.2(FHL1):c.161A>G (p.Asn54Ser)
|
rs886043917
|
0.00002
|
|
NM_001159699.2(FHL1):c.179G>A (p.Arg60His)
|
rs11557264
|
0.00002
|
|
NM_001159699.2(FHL1):c.215A>G (p.Tyr72Cys)
|
rs758269641
|
0.00002
|
|
NM_001159699.2(FHL1):c.247C>T (p.Arg83Cys)
|
rs1379221574
|
0.00002
|
|
NM_001159699.2(FHL1):c.284C>A (p.Thr95Asn)
|
rs764567944
|
0.00002
|
|
NM_001159699.2(FHL1):c.391G>T (p.Val131Leu)
|
rs374479477
|
0.00002
|
|
NM_001159699.2(FHL1):c.545A>G (p.Asn182Ser)
|
rs1569530504
|
0.00002
|
|
NM_001159699.2(FHL1):c.59A>G (p.Lys20Arg)
|
rs1230410861
|
0.00002
|
|
NM_001159699.2(FHL1):c.644G>A (p.Arg215His)
|
rs886043053
|
0.00002
|
|
NM_001159699.2(FHL1):c.856C>G (p.Gln286Glu)
|
rs747922027
|
0.00002
|
|
NM_001161403.3(LIMS2):c.108C>A (p.Tyr36Ter)
|
rs752899664
|
0.00002
|
|
NM_001161403.3(LIMS2):c.12-6783G>A
|
rs975497154
|
0.00002
|
|
NM_001161403.3(LIMS2):c.259G>A (p.Val87Ile)
|
rs756099594
|
0.00002
|
|
NM_001161403.3(LIMS2):c.371G>A (p.Arg124Gln)
|
rs767752155
|
0.00002
|
|
NM_001161403.3(LIMS2):c.425G>A (p.Arg142Gln)
|
rs768454144
|
0.00002
|
|
NM_001161403.3(LIMS2):c.516G>T (p.Glu172Asp)
|
rs1377141952
|
0.00002
|
|
NM_001161403.3(LIMS2):c.79C>T (p.Arg27Cys)
|
rs375142763
|
0.00002
|
|
NM_001232.4(CASQ2):c.1046A>T (p.Asp349Val)
|
rs372865933
|
0.00002
|
|
NM_001232.4(CASQ2):c.44C>G (p.Ser15Cys)
|
rs185539994
|
0.00002
|
|
NM_001232.4(CASQ2):c.478C>T (p.Arg160Cys)
|
rs750680032
|
0.00002
|
|
NM_001232.4(CASQ2):c.479G>A (p.Arg160His)
|
rs372283956
|
0.00002
|
|
NM_001232.4(CASQ2):c.673A>G (p.Ile225Val)
|
rs774546117
|
0.00002
|
|
NM_001232.4(CASQ2):c.737+6T>A
|
rs760688872
|
0.00002
|
|
NM_001232.4(CASQ2):c.893A>G (p.Asn298Ser)
|
rs548536938
|
0.00002
|
|
NM_001267550.2(TTN):c.100018C>A (p.Gln33340Lys)
|
rs558954116
|
0.00002
|
|
NM_001267550.2(TTN):c.100117G>A (p.Gly33373Ser)
|
rs55880786
|
0.00002
|
|
NM_001267550.2(TTN):c.100449A>C (p.Glu33483Asp)
|
rs762690616
|
0.00002
|
|
NM_001267550.2(TTN):c.100696A>G (p.Thr33566Ala)
|
rs878854282
|
0.00002
|
|
NM_001267550.2(TTN):c.100876G>A (p.Val33626Met)
|
rs1222398324
|
0.00002
|
|
NM_001267550.2(TTN):c.100972G>A (p.Gly33658Arg)
|
rs780484535
|
0.00002
|
|
NM_001267550.2(TTN):c.101027G>A (p.Gly33676Glu)
|
rs368894429
|
0.00002
|
|
NM_001267550.2(TTN):c.101237G>A (p.Arg33746His)
|
rs372584865
|
0.00002
|
|
NM_001267550.2(TTN):c.101282G>A (p.Arg33761Gln)
|
rs774790424
|
0.00002
|
|
NM_001267550.2(TTN):c.101327C>T (p.Pro33776Leu)
|
rs536357517
|
0.00002
|
|
NM_001267550.2(TTN):c.101345C>T (p.Thr33782Ile)
|
rs771566432
|
0.00002
|
|
NM_001267550.2(TTN):c.101536A>G (p.Met33846Val)
|
rs565546848
|
0.00002
|
|
NM_001267550.2(TTN):c.101599C>G (p.Leu33867Val)
|
rs76194811
|
0.00002
|
|
NM_001267550.2(TTN):c.101749G>A (p.Val33917Ile)
|
rs768379988
|
0.00002
|
|
NM_001267550.2(TTN):c.101941T>C (p.Tyr33981His)
|
rs781686886
|
0.00002
|
|
NM_001267550.2(TTN):c.102030T>G (p.Ser34010Arg)
|
rs1296387134
|
0.00002
|
|
NM_001267550.2(TTN):c.102155G>A (p.Arg34052Gln)
|
rs369245991
|
0.00002
|
|
NM_001267550.2(TTN):c.102181C>T (p.Arg34061Cys)
|
rs879220772
|
0.00002
|
|
NM_001267550.2(TTN):c.102238G>C (p.Val34080Leu)
|
rs1467698015
|
0.00002
|
|
NM_001267550.2(TTN):c.102284A>C (p.His34095Pro)
|
rs1437743604
|
0.00002
|
|
NM_001267550.2(TTN):c.102308A>T (p.Asn34103Ile)
|
rs557630306
|
0.00002
|
|
NM_001267550.2(TTN):c.102433G>A (p.Ala34145Thr)
|
rs542891030
|
0.00002
|
|
NM_001267550.2(TTN):c.102682G>C (p.Gly34228Arg)
|
rs555664963
|
0.00002
|
|
NM_001267550.2(TTN):c.102761T>C (p.Leu34254Pro)
|
rs556155561
|
0.00002
|
|
NM_001267550.2(TTN):c.103471G>A (p.Glu34491Lys)
|
rs556218739
|
0.00002
|
|
NM_001267550.2(TTN):c.103484T>C (p.Leu34495Pro)
|
rs373479287
|
0.00002
|
|
NM_001267550.2(TTN):c.103576G>C (p.Glu34526Gln)
|
rs770742837
|
0.00002
|
|
NM_001267550.2(TTN):c.103939T>C (p.Tyr34647His)
|
rs561869617
|
0.00002
|
|
NM_001267550.2(TTN):c.104281C>T (p.Arg34761Trp)
|
rs879071113
|
0.00002
|
|
NM_001267550.2(TTN):c.104315A>G (p.Glu34772Gly)
|
rs766674127
|
0.00002
|
|
NM_001267550.2(TTN):c.104425G>C (p.Val34809Leu)
|
rs754384143
|
0.00002
|
|
NM_001267550.2(TTN):c.104518C>T (p.Arg34840Trp)
|
rs546085542
|
0.00002
|
|
NM_001267550.2(TTN):c.104648G>A (p.Arg34883His)
|
rs368063908
|
0.00002
|
|
NM_001267550.2(TTN):c.104654G>A (p.Arg34885Gln)
|
rs368870767
|
0.00002
|
|
NM_001267550.2(TTN):c.104822C>A (p.Ala34941Asp)
|
rs1445357252
|
0.00002
|
|
NM_001267550.2(TTN):c.104914G>A (p.Glu34972Lys)
|
rs727504918
|
0.00002
|
|
NM_001267550.2(TTN):c.104953A>G (p.Ser34985Gly)
|
rs765030518
|
0.00002
|
|
NM_001267550.2(TTN):c.104986G>T (p.Val34996Phe)
|
rs772718460
|
0.00002
|
|
NM_001267550.2(TTN):c.105227C>T (p.Ser35076Leu)
|
rs747940468
|
0.00002
|
|
NM_001267550.2(TTN):c.105241G>A (p.Glu35081Lys)
|
rs779952686
|
0.00002
|
|
NM_001267550.2(TTN):c.105916G>A (p.Val35306Met)
|
rs1434315858
|
0.00002
|
|
NM_001267550.2(TTN):c.106061A>G (p.Gln35354Arg)
|
rs546343124
|
0.00002
|
|
NM_001267550.2(TTN):c.106286C>A (p.Thr35429Lys)
|
rs1241466221
|
0.00002
|
|
NM_001267550.2(TTN):c.106736C>T (p.Ser35579Leu)
|
rs727504462
|
0.00002
|
|
NM_001267550.2(TTN):c.107104C>G (p.Pro35702Ala)
|
rs551126367
|
0.00002
|
|
NM_001267550.2(TTN):c.107255G>A (p.Arg35752His)
|
rs760107623
|
0.00002
|
|
NM_001267550.2(TTN):c.107339G>A (p.Arg35780His)
|
rs770904787
|
0.00002
|
|
NM_001267550.2(TTN):c.107517T>G (p.Ser35839Arg)
|
rs776981475
|
0.00002
|
|
NM_001267550.2(TTN):c.107773A>G (p.Thr35925Ala)
|
rs781497669
|
0.00002
|
|
NM_001267550.2(TTN):c.107869A>T (p.Ile35957Phe)
|
rs950902715
|
0.00002
|
|
NM_001267550.2(TTN):c.10825G>A (p.Glu3609Lys)
|
rs1016683077
|
0.00002
|
|
NM_001267550.2(TTN):c.10840G>T (p.Glu3614Ter)
|
rs540059730
|
0.00002
|
|
NM_001267550.2(TTN):c.1208G>C (p.Ser403Thr)
|
rs727505091
|
0.00002
|
|
NM_001267550.2(TTN):c.12208G>A (p.Glu4070Lys)
|
rs397517830
|
0.00002
|
|
NM_001267550.2(TTN):c.13282G>A (p.Glu4428Lys)
|
rs528766978
|
0.00002
|
|
NM_001267550.2(TTN):c.13320G>A (p.Met4440Ile)
|
rs768996215
|
0.00002
|
|
NM_001267550.2(TTN):c.14002A>G (p.Thr4668Ala)
|
rs758920941
|
0.00002
|
|
NM_001267550.2(TTN):c.14296G>A (p.Asp4766Asn)
|
rs981499527
|
0.00002
|
|
NM_001267550.2(TTN):c.14536G>A (p.Ala4846Thr)
|
rs752150323
|
0.00002
|
|
NM_001267550.2(TTN):c.14624C>G (p.Ala4875Gly)
|
rs369989679
|
0.00002
|
|
NM_001267550.2(TTN):c.14873A>G (p.Tyr4958Cys)
|
rs530572005
|
0.00002
|
|
NM_001267550.2(TTN):c.15125C>T (p.Thr5042Met)
|
rs1060500462
|
0.00002
|
|
NM_001267550.2(TTN):c.15940A>G (p.Asn5314Asp)
|
rs371044267
|
0.00002
|
|
NM_001267550.2(TTN):c.16028C>T (p.Ser5343Phe)
|
rs369132752
|
0.00002
|
|
NM_001267550.2(TTN):c.16136A>C (p.Lys5379Thr)
|
rs752346935
|
0.00002
|
|
NM_001267550.2(TTN):c.16868G>T (p.Gly5623Val)
|
rs768364912
|
0.00002
|
|
NM_001267550.2(TTN):c.17596G>T (p.Gly5866Cys)
|
rs753136638
|
0.00002
|
|
NM_001267550.2(TTN):c.18374T>C (p.Phe6125Ser)
|
rs375003845
|
0.00002
|
|
NM_001267550.2(TTN):c.18589+5G>A
|
rs763752372
|
0.00002
|
|
NM_001267550.2(TTN):c.18959C>A (p.Pro6320His)
|
rs886246785
|
0.00002
|
|
NM_001267550.2(TTN):c.19855A>G (p.Lys6619Glu)
|
rs1060500450
|
0.00002
|
|
NM_001267550.2(TTN):c.2022A>C (p.Arg674Ser)
|
rs180694107
|
0.00002
|
|
NM_001267550.2(TTN):c.205G>A (p.Ala69Thr)
|
rs1370693255
|
0.00002
|
|
NM_001267550.2(TTN):c.21116-1G>A
|
rs771575556
|
0.00002
|
|
NM_001267550.2(TTN):c.21612T>G (p.Ser7204Arg)
|
rs780624577
|
0.00002
|
|
NM_001267550.2(TTN):c.21689C>T (p.Ala7230Val)
|
rs761223583
|
0.00002
|
|
NM_001267550.2(TTN):c.21907G>A (p.Glu7303Lys)
|
rs774950387
|
0.00002
|
|
NM_001267550.2(TTN):c.22432A>G (p.Ile7478Val)
|
rs1191020503
|
0.00002
|
|
NM_001267550.2(TTN):c.22628C>T (p.Pro7543Leu)
|
rs560272834
|
0.00002
|
|
NM_001267550.2(TTN):c.22689C>G (p.Ile7563Met)
|
rs1060500529
|
0.00002
|
|
NM_001267550.2(TTN):c.22931G>A (p.Arg7644Gln)
|
rs766675017
|
0.00002
|
|
NM_001267550.2(TTN):c.23770A>C (p.Lys7924Gln)
|
rs770650362
|
0.00002
|
|
NM_001267550.2(TTN):c.24115G>A (p.Val8039Ile)
|
rs759655046
|
0.00002
|
|
NM_001267550.2(TTN):c.24701C>T (p.Thr8234Ile)
|
rs369521909
|
0.00002
|
|
NM_001267550.2(TTN):c.25510A>C (p.Met8504Leu)
|
rs761929830
|
0.00002
|
|
NM_001267550.2(TTN):c.26200G>A (p.Ala8734Thr)
|
rs727503646
|
0.00002
|
|
NM_001267550.2(TTN):c.26579G>A (p.Ser8860Asn)
|
rs1240256366
|
0.00002
|
|
NM_001267550.2(TTN):c.26744C>G (p.Ala8915Gly)
|
rs536974988
|
0.00002
|
|
NM_001267550.2(TTN):c.26985C>A (p.Asp8995Glu)
|
rs781351100
|
0.00002
|
|
NM_001267550.2(TTN):c.27426G>A (p.Ser9142=)
|
rs368081453
|
0.00002
|
|
NM_001267550.2(TTN):c.27592C>G (p.Gln9198Glu)
|
rs72648995
|
0.00002
|
|
NM_001267550.2(TTN):c.28099C>T (p.Leu9367Phe)
|
rs748483786
|
0.00002
|
|
NM_001267550.2(TTN):c.28594A>G (p.Ile9532Val)
|
rs770782767
|
0.00002
|
|
NM_001267550.2(TTN):c.28744G>A (p.Val9582Ile)
|
rs537805395
|
0.00002
|
|
NM_001267550.2(TTN):c.29066C>G (p.Thr9689Ser)
|
rs777878480
|
0.00002
|
|
NM_001267550.2(TTN):c.29245C>T (p.Gln9749Ter)
|
rs746721983
|
0.00002
|
|
NM_001267550.2(TTN):c.29429T>C (p.Ile9810Thr)
|
rs781737736
|
0.00002
|
|
NM_001267550.2(TTN):c.29962+1G>T
|
rs774961188
|
0.00002
|
|
NM_001267550.2(TTN):c.2996G>A (p.Arg999His)
|
rs371757623
|
0.00002
|
|
NM_001267550.2(TTN):c.32021T>C (p.Leu10674Pro)
|
rs762662455
|
0.00002
|
|
NM_001267550.2(TTN):c.32542C>T (p.Pro10848Ser)
|
rs368286625
|
0.00002
|
|
NM_001267550.2(TTN):c.32826del (p.Val10943fs)
|
rs1440823660
|
0.00002
|
|
NM_001267550.2(TTN):c.33052C>T (p.Arg11018Trp)
|
rs372118864
|
0.00002
|
|
NM_001267550.2(TTN):c.33164C>T (p.Pro11055Leu)
|
rs193051231
|
0.00002
|
|
NM_001267550.2(TTN):c.34006C>T (p.Arg11336Cys)
|
rs763380355
|
0.00002
|
|
NM_001267550.2(TTN):c.34537+3A>G
|
rs1427570685
|
0.00002
|
|
NM_001267550.2(TTN):c.35330T>C (p.Ile11777Thr)
|
rs1393138345
|
0.00002
|
|
NM_001267550.2(TTN):c.35470+4T>C
|
rs1389073196
|
0.00002
|
|
NM_001267550.2(TTN):c.35797G>C (p.Glu11933Gln)
|
rs769110483
|
0.00002
|
|
NM_001267550.2(TTN):c.36043+4C>T
|
rs370368656
|
0.00002
|
|
NM_001267550.2(TTN):c.36043+5G>A
|
rs561444783
|
0.00002
|
|
NM_001267550.2(TTN):c.36448G>T (p.Val12150Leu)
|
rs371317962
|
0.00002
|
|
NM_001267550.2(TTN):c.36499C>T (p.Pro12167Ser)
|
rs780323492
|
0.00002
|
|
NM_001267550.2(TTN):c.36520C>A (p.Pro12174Thr)
|
rs762482452
|
0.00002
|
|
NM_001267550.2(TTN):c.37543+1G>A
|
rs1374931889
|
0.00002
|
|
NM_001267550.2(TTN):c.38275C>G (p.Pro12759Ala)
|
rs1162101042
|
0.00002
|
|
NM_001267550.2(TTN):c.39064G>A (p.Val13022Ile)
|
rs767090806
|
0.00002
|
|
NM_001267550.2(TTN):c.39115A>C (p.Thr13039Pro)
|
rs766921440
|
0.00002
|
|
NM_001267550.2(TTN):c.39127G>A (p.Val13043Met)
|
rs560962534
|
0.00002
|
|
NM_001267550.2(TTN):c.39469G>A (p.Glu13157Lys)
|
rs761974767
|
0.00002
|
|
NM_001267550.2(TTN):c.39673C>T (p.Pro13225Ser)
|
rs202240398
|
0.00002
|
|
NM_001267550.2(TTN):c.39802G>T (p.Val13268Phe)
|
rs759268958
|
0.00002
|
|
NM_001267550.2(TTN):c.39895G>T (p.Glu13299Ter)
|
rs758166967
|
0.00002
|
|
NM_001267550.2(TTN):c.3989G>A (p.Arg1330His)
|
rs761402128
|
0.00002
|
|
NM_001267550.2(TTN):c.4072G>T (p.Asp1358Tyr)
|
rs373988162
|
0.00002
|
|
NM_001267550.2(TTN):c.42157G>A (p.Glu14053Lys)
|
rs759050071
|
0.00002
|
|
NM_001267550.2(TTN):c.427G>A (p.Glu143Lys)
|
rs754182768
|
0.00002
|
|
NM_001267550.2(TTN):c.43120A>G (p.Ile14374Val)
|
rs754227553
|
0.00002
|
|
NM_001267550.2(TTN):c.4337C>A (p.Thr1446Lys)
|
rs879232192
|
0.00002
|
|
NM_001267550.2(TTN):c.43691C>G (p.Ser14564Cys)
|
rs377015571
|
0.00002
|
|
NM_001267550.2(TTN):c.44222C>T (p.Thr14741Met)
|
rs778576436
|
0.00002
|
|
NM_001267550.2(TTN):c.44530G>A (p.Ala14844Thr)
|
rs772053966
|
0.00002
|
|
NM_001267550.2(TTN):c.45725G>A (p.Arg15242Lys)
|
rs140795503
|
0.00002
|
|
NM_001267550.2(TTN):c.47938A>G (p.Ile15980Val)
|
rs780634456
|
0.00002
|
|
NM_001267550.2(TTN):c.48079C>T (p.Arg16027Cys)
|
rs765032242
|
0.00002
|
|
NM_001267550.2(TTN):c.48312+3G>T
|
rs368650224
|
0.00002
|
|
NM_001267550.2(TTN):c.48983C>T (p.Thr16328Ile)
|
rs770839243
|
0.00002
|
|
NM_001267550.2(TTN):c.50084G>A (p.Arg16695Gln)
|
rs794729451
|
0.00002
|
|
NM_001267550.2(TTN):c.50151G>C (p.Glu16717Asp)
|
rs369623681
|
0.00002
|
|
NM_001267550.2(TTN):c.50648C>A (p.Pro16883His)
|
rs758756600
|
0.00002
|
|
NM_001267550.2(TTN):c.51337C>T (p.Pro17113Ser)
|
rs768641489
|
0.00002
|
|
NM_001267550.2(TTN):c.52010G>A (p.Arg17337Gln)
|
rs775700218
|
0.00002
|
|
NM_001267550.2(TTN):c.52373T>C (p.Val17458Ala)
|
rs760430370
|
0.00002
|
|
NM_001267550.2(TTN):c.52880G>A (p.Arg17627His)
|
rs536494011
|
0.00002
|
|
NM_001267550.2(TTN):c.53180C>G (p.Ser17727Cys)
|
rs369262757
|
0.00002
|
|
NM_001267550.2(TTN):c.53769G>A (p.Leu17923=)
|
rs1439566303
|
0.00002
|
|
NM_001267550.2(TTN):c.54142T>C (p.Ser18048Pro)
|
rs878999356
|
0.00002
|
|
NM_001267550.2(TTN):c.54314G>A (p.Arg18105His)
|
rs760383112
|
0.00002
|
|
NM_001267550.2(TTN):c.54578A>G (p.Asn18193Ser)
|
rs777505893
|
0.00002
|
|
NM_001267550.2(TTN):c.55058A>G (p.Asn18353Ser)
|
rs747601378
|
0.00002
|
|
NM_001267550.2(TTN):c.55405A>C (p.Thr18469Pro)
|
rs1044328956
|
0.00002
|
|
NM_001267550.2(TTN):c.55808C>T (p.Pro18603Leu)
|
rs531760043
|
0.00002
|
|
NM_001267550.2(TTN):c.56051G>A (p.Cys18684Tyr)
|
rs1025426023
|
0.00002
|
|
NM_001267550.2(TTN):c.56314A>G (p.Thr18772Ala)
|
rs964263107
|
0.00002
|
|
NM_001267550.2(TTN):c.56557C>T (p.His18853Tyr)
|
rs397517623
|
0.00002
|
|
NM_001267550.2(TTN):c.58137C>T (p.Cys19379=)
|
rs376310289
|
0.00002
|
|
NM_001267550.2(TTN):c.58342A>G (p.Lys19448Glu)
|
rs900082928
|
0.00002
|
|
NM_001267550.2(TTN):c.58876G>A (p.Ala19626Thr)
|
rs371278320
|
0.00002
|
|
NM_001267550.2(TTN):c.58882G>A (p.Val19628Ile)
|
rs772550095
|
0.00002
|
|
NM_001267550.2(TTN):c.59827G>A (p.Glu19943Lys)
|
rs751863629
|
0.00002
|
|
NM_001267550.2(TTN):c.59917G>A (p.Asp19973Asn)
|
rs148353350
|
0.00002
|
|
NM_001267550.2(TTN):c.60097T>G (p.Leu20033Val)
|
rs878993043
|
0.00002
|
|
NM_001267550.2(TTN):c.61815A>G (p.Ile20605Met)
|
rs761374262
|
0.00002
|
|
NM_001267550.2(TTN):c.6304G>T (p.Val2102Leu)
|
rs767322897
|
0.00002
|
|
NM_001267550.2(TTN):c.63521T>C (p.Ile21174Thr)
|
rs1319446307
|
0.00002
|
|
NM_001267550.2(TTN):c.63896C>T (p.Thr21299Ile)
|
rs1031526299
|
0.00002
|
|
NM_001267550.2(TTN):c.64111A>G (p.Arg21371Gly)
|
rs748901968
|
0.00002
|
|
NM_001267550.2(TTN):c.64475G>A (p.Gly21492Glu)
|
rs879135883
|
0.00002
|
|
NM_001267550.2(TTN):c.6478A>G (p.Thr2160Ala)
|
rs397517693
|
0.00002
|
|
NM_001267550.2(TTN):c.64816G>C (p.Asp21606His)
|
rs751046367
|
0.00002
|
|
NM_001267550.2(TTN):c.65566G>A (p.Ala21856Thr)
|
rs752176305
|
0.00002
|
|
NM_001267550.2(TTN):c.65715A>C (p.Lys21905Asn)
|
rs574615636
|
0.00002
|
|
NM_001267550.2(TTN):c.66544T>G (p.Tyr22182Asp)
|
rs878854327
|
0.00002
|
|
NM_001267550.2(TTN):c.66940G>T (p.Asp22314Tyr)
|
rs768380109
|
0.00002
|
|
NM_001267550.2(TTN):c.66958C>T (p.Arg22320Cys)
|
rs772361876
|
0.00002
|
|
NM_001267550.2(TTN):c.67685C>A (p.Ala22562Asp)
|
rs776797528
|
0.00002
|
|
NM_001267550.2(TTN):c.6773C>T (p.Ala2258Val)
|
rs72647881
|
0.00002
|
|
NM_001267550.2(TTN):c.67792A>C (p.Ser22598Arg)
|
rs775579156
|
0.00002
|
|
NM_001267550.2(TTN):c.68848C>A (p.Pro22950Thr)
|
rs770007899
|
0.00002
|
|
NM_001267550.2(TTN):c.70260G>A (p.Pro23420=)
|
rs72646887
|
0.00002
|
|
NM_001267550.2(TTN):c.70435C>T (p.Arg23479Trp)
|
rs760509116
|
0.00002
|
|
NM_001267550.2(TTN):c.7057+1G>A
|
rs763909866
|
0.00002
|
|
NM_001267550.2(TTN):c.71608G>A (p.Gly23870Ser)
|
rs727503564
|
0.00002
|
|
NM_001267550.2(TTN):c.71789A>T (p.Lys23930Ile)
|
rs752648041
|
0.00002
|
|
NM_001267550.2(TTN):c.73759T>C (p.Cys24587Arg)
|
rs776113871
|
0.00002
|
|
NM_001267550.2(TTN):c.75011G>A (p.Arg25004His)
|
rs909041164
|
0.00002
|
|
NM_001267550.2(TTN):c.75554A>C (p.Lys25185Thr)
|
rs371042435
|
0.00002
|
|
NM_001267550.2(TTN):c.75620C>G (p.Pro25207Arg)
|
rs72646900
|
0.00002
|
|
NM_001267550.2(TTN):c.75746G>A (p.Arg25249His)
|
rs773286477
|
0.00002
|
|
NM_001267550.2(TTN):c.76070G>A (p.Arg25357His)
|
rs397517703
|
0.00002
|
|
NM_001267550.2(TTN):c.7634C>T (p.Thr2545Ile)
|
rs1016165797
|
0.00002
|
|
NM_001267550.2(TTN):c.76627A>G (p.Lys25543Glu)
|
rs372016541
|
0.00002
|
|
NM_001267550.2(TTN):c.78286G>A (p.Glu26096Lys)
|
rs370515843
|
0.00002
|
|
NM_001267550.2(TTN):c.79105G>A (p.Val26369Ile)
|
rs778729064
|
0.00002
|
|
NM_001267550.2(TTN):c.79213G>A (p.Val26405Ile)
|
rs769972835
|
0.00002
|
|
NM_001267550.2(TTN):c.79744A>C (p.Lys26582Gln)
|
rs775918922
|
0.00002
|
|
NM_001267550.2(TTN):c.80717G>A (p.Arg26906Gln)
|
rs536183519
|
0.00002
|
|
NM_001267550.2(TTN):c.82022G>A (p.Arg27341Gln)
|
rs555414240
|
0.00002
|
|
NM_001267550.2(TTN):c.82582C>T (p.Arg27528Trp)
|
rs749852593
|
0.00002
|
|
NM_001267550.2(TTN):c.82583G>A (p.Arg27528Gln)
|
rs765230578
|
0.00002
|
|
NM_001267550.2(TTN):c.82814A>G (p.Tyr27605Cys)
|
rs753352392
|
0.00002
|
|
NM_001267550.2(TTN):c.83011G>C (p.Glu27671Gln)
|
rs949881130
|
0.00002
|
|
NM_001267550.2(TTN):c.83324T>C (p.Ile27775Thr)
|
rs769577217
|
0.00002
|
|
NM_001267550.2(TTN):c.83519T>C (p.Val27840Ala)
|
rs752446232
|
0.00002
|
|
NM_001267550.2(TTN):c.83779A>C (p.Thr27927Pro)
|
rs1164046049
|
0.00002
|
|
NM_001267550.2(TTN):c.84998C>T (p.Ala28333Val)
|
rs886042586
|
0.00002
|
|
NM_001267550.2(TTN):c.85315C>T (p.Arg28439Trp)
|
rs757653038
|
0.00002
|
|
NM_001267550.2(TTN):c.85420C>T (p.Arg28474Cys)
|
rs757771061
|
0.00002
|
|
NM_001267550.2(TTN):c.85624A>G (p.Ile28542Val)
|
rs554841820
|
0.00002
|
|
NM_001267550.2(TTN):c.86676G>T (p.Trp28892Cys)
|
rs779407441
|
0.00002
|
|
NM_001267550.2(TTN):c.87650G>A (p.Arg29217His)
|
rs749606240
|
0.00002
|
|
NM_001267550.2(TTN):c.87940G>A (p.Ala29314Thr)
|
rs923029692
|
0.00002
|
|
NM_001267550.2(TTN):c.88406C>T (p.Ala29469Val)
|
rs397517740
|
0.00002
|
|
NM_001267550.2(TTN):c.88819C>T (p.Arg29607Trp)
|
rs781330566
|
0.00002
|
|
NM_001267550.2(TTN):c.8905A>G (p.Ile2969Val)
|
rs764394936
|
0.00002
|
|
NM_001267550.2(TTN):c.89735T>C (p.Leu29912Pro)
|
rs748326514
|
0.00002
|
|
NM_001267550.2(TTN):c.90412G>A (p.Gly30138Arg)
|
rs1225356759
|
0.00002
|
|
NM_001267550.2(TTN):c.91304C>T (p.Thr30435Ile)
|
rs1060500591
|
0.00002
|
|
NM_001267550.2(TTN):c.91306C>T (p.Arg30436Trp)
|
rs773600127
|
0.00002
|
|
NM_001267550.2(TTN):c.91642G>C (p.Ala30548Pro)
|
rs369043548
|
0.00002
|
|
NM_001267550.2(TTN):c.91736T>C (p.Leu30579Pro)
|
rs765022890
|
0.00002
|
|
NM_001267550.2(TTN):c.92152+7T>G
|
rs574211300
|
0.00002
|
|
NM_001267550.2(TTN):c.92666G>A (p.Gly30889Asp)
|
rs727505280
|
0.00002
|
|
NM_001267550.2(TTN):c.92984C>A (p.Thr30995Asn)
|
rs886042408
|
0.00002
|
|
NM_001267550.2(TTN):c.93737A>G (p.Lys31246Arg)
|
rs775611779
|
0.00002
|
|
NM_001267550.2(TTN):c.95312G>A (p.Arg31771Lys)
|
rs397517760
|
0.00002
|
|
NM_001267550.2(TTN):c.95330A>C (p.Glu31777Ala)
|
rs955172279
|
0.00002
|
|
NM_001267550.2(TTN):c.95344G>A (p.Val31782Met)
|
rs377076423
|
0.00002
|
|
NM_001267550.2(TTN):c.95415C>A (p.Phe31805Leu)
|
rs587780983
|
0.00002
|
|
NM_001267550.2(TTN):c.95873G>A (p.Arg31958Gln)
|
rs763270971
|
0.00002
|
|
NM_001267550.2(TTN):c.96604G>T (p.Val32202Leu)
|
rs755717335
|
0.00002
|
|
NM_001267550.2(TTN):c.96718G>A (p.Glu32240Lys)
|
rs374598326
|
0.00002
|
|
NM_001267550.2(TTN):c.97292C>T (p.Pro32431Leu)
|
rs1060500426
|
0.00002
|
|
NM_001267550.2(TTN):c.97330C>T (p.Arg32444Cys)
|
rs776164829
|
0.00002
|
|
NM_001267550.2(TTN):c.97605T>G (p.Ile32535Met)
|
rs760676361
|
0.00002
|
|
NM_001267550.2(TTN):c.98464G>A (p.Asp32822Asn)
|
rs921446344
|
0.00002
|
|
NM_001267550.2(TTN):c.98806C>T (p.Arg32936Cys)
|
rs764276622
|
0.00002
|
|
NM_001267550.2(TTN):c.99254G>A (p.Arg33085His)
|
rs777035261
|
0.00002
|
|
NM_001267550.2(TTN):c.99581C>T (p.Pro33194Leu)
|
rs140025425
|
0.00002
|
|
NM_001267550.2(TTN):c.99861A>G (p.Ile33287Met)
|
rs758948672
|
0.00002
|
|
NM_001276345.2(TNNT2):c.110C>G (p.Ala37Gly)
|
rs776406819
|
0.00002
|
|
NM_001276345.2(TNNT2):c.260C>T (p.Pro87Leu)
|
rs144900708
|
0.00002
|
|
NM_001276345.2(TNNT2):c.34G>A (p.Glu12Lys)
|
rs760247765
|
0.00002
|
|
NM_001276345.2(TNNT2):c.40G>A (p.Glu14Lys)
|
rs772890125
|
0.00002
|
|
NM_001276345.2(TNNT2):c.56C>G (p.Ala19Gly)
|
rs753645200
|
0.00002
|
|
NM_001289808.2(CRYAB):c.202A>T (p.Met68Leu)
|
rs1291858452
|
0.00002
|
|
NM_001289808.2(CRYAB):c.301C>A (p.His101Asn)
|
rs1029108489
|
0.00002
|
|
NM_001289808.2(CRYAB):c.325-2A>G
|
rs202024436
|
0.00002
|
|
NM_001289808.2(CRYAB):c.373C>T (p.Pro125Ser)
|
rs374661019
|
0.00002
|
|
NM_001289808.2(CRYAB):c.487C>T (p.Arg163Cys)
|
rs186242388
|
0.00002
|
|
NM_001289808.2(CRYAB):c.85G>C (p.Gly29Arg)
|
rs148500053
|
0.00002
|
|
NM_001318895.3(FHL2):c.175C>T (p.Arg59Trp)
|
rs753335287
|
0.00002
|
|
NM_001318895.3(FHL2):c.274T>C (p.Cys92Arg)
|
rs149138019
|
0.00002
|
|
NM_001318895.3(FHL2):c.275G>A (p.Cys92Tyr)
|
rs765835400
|
0.00002
|
|
NM_001318895.3(FHL2):c.332-6T>A
|
rs754744445
|
0.00002
|
|
NM_001318895.3(FHL2):c.644A>C (p.Asp215Ala)
|
rs758618755
|
0.00002
|
|
NM_001386795.1(DTNA):c.1291G>A (p.Asp431Asn)
|
rs777304620
|
0.00002
|
|
NM_001386795.1(DTNA):c.154C>G (p.Leu52Val)
|
rs780815924
|
0.00002
|
|
NM_001386795.1(DTNA):c.1603G>T (p.Ala535Ser)
|
rs746736894
|
0.00002
|
|
NM_001386795.1(DTNA):c.172G>T (p.Val58Phe)
|
rs769176953
|
0.00002
|
|
NM_001386795.1(DTNA):c.177A>G (p.Ile59Met)
|
rs1057518968
|
0.00002
|
|
NM_001386795.1(DTNA):c.182C>G (p.Ala61Gly)
|
rs767620520
|
0.00002
|
|
NM_001386795.1(DTNA):c.188G>A (p.Arg63Gln)
|
rs766420415
|
0.00002
|
|
NM_001386795.1(DTNA):c.2181T>A (p.Asp727Glu)
|
rs564742185
|
0.00002
|
|
NM_001386795.1(DTNA):c.2227C>T (p.Arg743Trp)
|
rs774768713
|
0.00002
|
|
NM_001386795.1(DTNA):c.2276T>C (p.Leu759Pro)
|
rs766539608
|
0.00002
|
|
NM_001386795.1(DTNA):c.298C>T (p.His100Tyr)
|
rs959010180
|
0.00002
|
|
NM_001386795.1(DTNA):c.362C>T (p.Pro121Leu)
|
rs104894654
|
0.00002
|
|
NM_001386795.1(DTNA):c.642G>A (p.Met214Ile)
|
rs745752400
|
0.00002
|
|
NM_001386795.1(DTNA):c.85C>T (p.Arg29Cys)
|
rs781374642
|
0.00002
|
|
NM_001386795.1(DTNA):c.869C>T (p.Thr290Met)
|
rs747834756
|
0.00002
|
|
NM_001458.5(FLNC):c.1001G>A (p.Arg334His)
|
rs779347920
|
0.00002
|
|
NM_001458.5(FLNC):c.1208C>T (p.Ala403Val)
|
rs777199447
|
0.00002
|
|
NM_001458.5(FLNC):c.1209G>A (p.Ala403=)
|
rs746938160
|
0.00002
|
|
NM_001458.5(FLNC):c.1309C>T (p.Arg437Cys)
|
rs374847180
|
0.00002
|
|
NM_001458.5(FLNC):c.1724G>A (p.Arg575Gln)
|
rs764751276
|
0.00002
|
|
NM_001458.5(FLNC):c.176A>G (p.Asp59Gly)
|
rs1164296903
|
0.00002
|
|
NM_001458.5(FLNC):c.1798G>A (p.Glu600Lys)
|
rs760911646
|
0.00002
|
|
NM_001458.5(FLNC):c.1981G>A (p.Ala661Thr)
|
rs1480694554
|
0.00002
|
|
NM_001458.5(FLNC):c.2389+19G>T
|
rs1359230020
|
0.00002
|
|
NM_001458.5(FLNC):c.2389+5G>A
|
rs901857994
|
0.00002
|
|
NM_001458.5(FLNC):c.2518C>T (p.Arg840Cys)
|
rs373514748
|
0.00002
|
|
NM_001458.5(FLNC):c.2560G>A (p.Ala854Thr)
|
rs749855792
|
0.00002
|
|
NM_001458.5(FLNC):c.3001G>A (p.Val1001Met)
|
rs1037999644
|
0.00002
|
|
NM_001458.5(FLNC):c.3005G>A (p.Arg1002Gln)
|
rs202039743
|
0.00002
|
|
NM_001458.5(FLNC):c.3062C>T (p.Ala1021Val)
|
rs574118437
|
0.00002
|
|
NM_001458.5(FLNC):c.3079C>T (p.Arg1027Cys)
|
rs541775814
|
0.00002
|
|
NM_001458.5(FLNC):c.3295G>A (p.Val1099Ile)
|
rs759452636
|
0.00002
|
|
NM_001458.5(FLNC):c.3407C>T (p.Ala1136Val)
|
rs762793681
|
0.00002
|
|
NM_001458.5(FLNC):c.3488C>T (p.Pro1163Leu)
|
rs377489161
|
0.00002
|
|
NM_001458.5(FLNC):c.3499C>T (p.Arg1167Cys)
|
rs766439553
|
0.00002
|
|
NM_001458.5(FLNC):c.3595A>G (p.Lys1199Glu)
|
rs753260970
|
0.00002
|
|
NM_001458.5(FLNC):c.3781G>A (p.Glu1261Lys)
|
rs747033771
|
0.00002
|
|
NM_001458.5(FLNC):c.4270G>A (p.Gly1424Arg)
|
rs1202331272
|
0.00002
|
|
NM_001458.5(FLNC):c.4457G>T (p.Gly1486Val)
|
rs767473791
|
0.00002
|
|
NM_001458.5(FLNC):c.449A>G (p.Asp150Gly)
|
rs760711912
|
0.00002
|
|
NM_001458.5(FLNC):c.44G>T (p.Gly15Val)
|
rs766081127
|
0.00002
|
|
NM_001458.5(FLNC):c.4772G>A (p.Arg1591Gln)
|
rs755741955
|
0.00002
|
|
NM_001458.5(FLNC):c.479C>T (p.Thr160Met)
|
rs1357772572
|
0.00002
|
|
NM_001458.5(FLNC):c.5278G>A (p.Gly1760Ser)
|
rs150986092
|
0.00002
|
|
NM_001458.5(FLNC):c.5668+4A>C
|
rs1259876470
|
0.00002
|
|
NM_001458.5(FLNC):c.6004+6C>T
|
rs761548420
|
0.00002
|
|
NM_001458.5(FLNC):c.6041T>C (p.Val2014Ala)
|
rs765064363
|
0.00002
|
|
NM_001458.5(FLNC):c.6053G>A (p.Arg2018His)
|
rs764326184
|
0.00002
|
|
NM_001458.5(FLNC):c.6121G>C (p.Ala2041Pro)
|
rs745842738
|
0.00002
|
|
NM_001458.5(FLNC):c.6209-3C>G
|
rs896971028
|
0.00002
|
|
NM_001458.5(FLNC):c.6283A>G (p.Thr2095Ala)
|
rs373022507
|
0.00002
|
|
NM_001458.5(FLNC):c.6325A>G (p.Ile2109Val)
|
rs755736125
|
0.00002
|
|
NM_001458.5(FLNC):c.6419G>A (p.Arg2140Gln)
|
rs368662317
|
0.00002
|
|
NM_001458.5(FLNC):c.6593G>A (p.Gly2198Asp)
|
rs909093665
|
0.00002
|
|
NM_001458.5(FLNC):c.6727+3G>A
|
rs771664894
|
0.00002
|
|
NM_001458.5(FLNC):c.7251+4T>G
|
rs1389522053
|
0.00002
|
|
NM_001458.5(FLNC):c.7382G>A (p.Ser2461Asn)
|
rs550547714
|
0.00002
|
|
NM_001458.5(FLNC):c.7529C>T (p.Ala2510Val)
|
rs1809086035
|
0.00002
|
|
NM_001458.5(FLNC):c.7589C>A (p.Thr2530Asn)
|
rs766492460
|
0.00002
|
|
NM_001458.5(FLNC):c.7651G>C (p.Asp2551His)
|
rs1187923021
|
0.00002
|
|
NM_001458.5(FLNC):c.7658G>A (p.Arg2553Gln)
|
rs375213102
|
0.00002
|
|
NM_001458.5(FLNC):c.7666C>T (p.Pro2556Ser)
|
rs765967888
|
0.00002
|
|
NM_001458.5(FLNC):c.7784C>T (p.Pro2595Leu)
|
rs756144972
|
0.00002
|
|
NM_001458.5(FLNC):c.7972G>A (p.Val2658Met)
|
rs1269145751
|
0.00002
|
|
NM_001458.5(FLNC):c.874G>A (p.Val292Met)
|
rs1275499234
|
0.00002
|
|
NM_001927.4(DES):c.1049G>A (p.Arg350Gln)
|
rs57965306
|
0.00002
|
|
NM_001927.4(DES):c.1099A>C (p.Ile367Leu)
|
rs62636494
|
0.00002
|
|
NM_001927.4(DES):c.1280A>G (p.Asn427Ser)
|
rs142712150
|
0.00002
|
|
NM_001927.4(DES):c.1325C>A (p.Thr442Asn)
|
rs121913005
|
0.00002
|
|
NM_001927.4(DES):c.167T>A (p.Val56Glu)
|
rs1170549656
|
0.00002
|
|
NM_001927.4(DES):c.184G>A (p.Gly62Arg)
|
rs886044090
|
0.00002
|
|
NM_001927.4(DES):c.188C>A (p.Ala63Asp)
|
rs1345937895
|
0.00002
|
|
NM_001927.4(DES):c.196C>A (p.Leu66Met)
|
rs1320380570
|
0.00002
|
|
NM_001927.4(DES):c.199G>A (p.Gly67Arg)
|
rs753419517
|
0.00002
|
|
NM_001927.4(DES):c.212C>T (p.Ala71Val)
|
rs759235186
|
0.00002
|
|
NM_001927.4(DES):c.295C>G (p.Gln99Glu)
|
rs794728992
|
0.00002
|
|
NM_001927.4(DES):c.40T>C (p.Tyr14His)
|
rs750819338
|
0.00002
|
|
NM_001927.4(DES):c.566G>A (p.Arg189Gln)
|
rs1025323214
|
0.00002
|
|
NM_001927.4(DES):c.609A>C (p.Glu203Asp)
|
rs369495436
|
0.00002
|
|
NM_001927.4(DES):c.639G>A (p.Ala213=)
|
rs377337947
|
0.00002
|
|
NM_001927.4(DES):c.680G>A (p.Arg227His)
|
rs141486420
|
0.00002
|
|
NM_001927.4(DES):c.728A>G (p.His243Arg)
|
rs1410266369
|
0.00002
|
|
NM_001943.5(DSG2):c.1195G>A (p.Glu399Lys)
|
rs774863785
|
0.00002
|
|
NM_001943.5(DSG2):c.1480G>A (p.Asp494Asn)
|
rs747248279
|
0.00002
|
|
NM_001943.5(DSG2):c.1503G>T (p.Glu501Asp)
|
rs1191142951
|
0.00002
|
|
NM_001943.5(DSG2):c.1820A>G (p.Tyr607Cys)
|
rs766843045
|
0.00002
|
|
NM_001943.5(DSG2):c.2084C>T (p.Thr695Met)
|
rs200137091
|
0.00002
|
|
NM_001943.5(DSG2):c.2165G>A (p.Arg722Lys)
|
rs376819371
|
0.00002
|
|
NM_001943.5(DSG2):c.2212G>A (p.Ala738Thr)
|
rs397516705
|
0.00002
|
|
NM_001943.5(DSG2):c.2269A>T (p.Met757Leu)
|
rs750010743
|
0.00002
|
|
NM_001943.5(DSG2):c.2569C>T (p.Pro857Ser)
|
rs775091459
|
0.00002
|
|
NM_001943.5(DSG2):c.2623A>G (p.Met875Val)
|
rs370316475
|
0.00002
|
|
NM_001943.5(DSG2):c.2833A>G (p.Thr945Ala)
|
rs746297630
|
0.00002
|
|
NM_001943.5(DSG2):c.2996C>T (p.Ser999Leu)
|
rs762717195
|
0.00002
|
|
NM_001943.5(DSG2):c.3112A>G (p.Ile1038Val)
|
rs774113529
|
0.00002
|
|
NM_001943.5(DSG2):c.356G>A (p.Arg119Gln)
|
rs532305326
|
0.00002
|
|
NM_001943.5(DSG2):c.527C>T (p.Thr176Ile)
|
rs536617217
|
0.00002
|
|
NM_001943.5(DSG2):c.82-17A>G
|
rs757764234
|
0.00002
|
|
NM_001943.5(DSG2):c.86T>C (p.Leu29Ser)
|
rs786205361
|
0.00002
|
|
NM_001943.5(DSG2):c.8G>A (p.Arg3Gln)
|
rs979865463
|
0.00002
|
|
NM_001943.5(DSG2):c.919C>G (p.Leu307Val)
|
rs1052070604
|
0.00002
|
|
NM_001943.5(DSG2):c.973A>G (p.Thr325Ala)
|
rs745763739
|
0.00002
|
|
NM_001943.5(DSG2):c.977A>T (p.Asp326Val)
|
rs769699241
|
0.00002
|
|
NM_001943.5(DSG2):c.991G>A (p.Glu331Lys)
|
rs121913012
|
0.00002
|
|
NM_001985.3(ETFB):c.134C>T (p.Ala45Val)
|
rs770414295
|
0.00002
|
|
NM_001985.3(ETFB):c.316C>T (p.Arg106Trp)
|
rs748730384
|
0.00002
|
|
NM_001985.3(ETFB):c.382G>A (p.Asp128Asn)
|
rs104894678
|
0.00002
|
|
NM_002230.4(JUP):c.1324A>T (p.Ile442Phe)
|
rs142213474
|
0.00002
|
|
NM_002230.4(JUP):c.1354A>T (p.Thr452Ser)
|
rs794729045
|
0.00002
|
|
NM_002230.4(JUP):c.148G>A (p.Gly50Arg)
|
rs374008304
|
0.00002
|
|
NM_002230.4(JUP):c.1490T>G (p.Leu497Arg)
|
rs1327324458
|
0.00002
|
|
NM_002230.4(JUP):c.1513A>G (p.Ile505Val)
|
rs955019712
|
0.00002
|
|
NM_002230.4(JUP):c.1618C>T (p.Arg540Cys)
|
rs782455234
|
0.00002
|
|
NM_002230.4(JUP):c.1714C>T (p.Arg572Trp)
|
rs559297418
|
0.00002
|
|
NM_002230.4(JUP):c.1753A>G (p.Thr585Ala)
|
rs782653485
|
0.00002
|
|
NM_002230.4(JUP):c.1804C>T (p.Arg602Cys)
|
rs199511559
|
0.00002
|
|
NM_002230.4(JUP):c.1850C>T (p.Ala617Val)
|
rs782465804
|
0.00002
|
|
NM_002230.4(JUP):c.1865A>T (p.Asp622Val)
|
rs1021325325
|
0.00002
|
|
NM_002230.4(JUP):c.2153T>C (p.Met718Thr)
|
rs782336064
|
0.00002
|
|
NM_002230.4(JUP):c.2191G>A (p.Asp731Asn)
|
rs782647137
|
0.00002
|
|
NM_002230.4(JUP):c.2194G>A (p.Gly732Ser)
|
rs781885294
|
0.00002
|
|
NM_002230.4(JUP):c.274G>T (p.Gly92Cys)
|
rs781875765
|
0.00002
|
|
NM_002230.4(JUP):c.286G>A (p.Glu96Lys)
|
rs191683892
|
0.00002
|
|
NM_002230.4(JUP):c.436G>A (p.Glu146Lys)
|
rs146581757
|
0.00002
|
|
NM_002230.4(JUP):c.502C>G (p.Gln168Glu)
|
rs1322804388
|
0.00002
|
|
NM_002230.4(JUP):c.521C>T (p.Ala174Val)
|
rs146786437
|
0.00002
|
|
NM_002230.4(JUP):c.524C>T (p.Ser175Leu)
|
rs782435477
|
0.00002
|
|
NM_002230.4(JUP):c.533C>T (p.Ala178Val)
|
rs781976753
|
0.00002
|
|
NM_002230.4(JUP):c.572G>A (p.Arg191His)
|
rs143502391
|
0.00002
|
|
NM_002230.4(JUP):c.646C>T (p.Arg216Trp)
|
rs1490199319
|
0.00002
|
|
NM_002230.4(JUP):c.675G>A (p.Ser225=)
|
rs782063643
|
0.00002
|
|
NM_002230.4(JUP):c.682A>G (p.Ile228Val)
|
rs374566089
|
0.00002
|
|
NM_002230.4(JUP):c.833A>G (p.Asn278Ser)
|
rs541560189
|
0.00002
|
|
NM_002230.4(JUP):c.951G>C (p.Gln317His)
|
rs782215140
|
0.00002
|
|
NM_002230.4(JUP):c.964T>C (p.Tyr322His)
|
rs557075259
|
0.00002
|
|
NM_002471.4(MYH6):c.1042G>A (p.Ala348Thr)
|
rs1002843684
|
0.00002
|
|
NM_002471.4(MYH6):c.1210C>T (p.Arg404Trp)
|
rs1271657601
|
0.00002
|
|
NM_002471.4(MYH6):c.121G>A (p.Asp41Asn)
|
rs201161721
|
0.00002
|
|
NM_002471.4(MYH6):c.1325C>T (p.Thr442Met)
|
rs757040426
|
0.00002
|
|
NM_002471.4(MYH6):c.160C>T (p.Arg54Trp)
|
rs369366244
|
0.00002
|
|
NM_002471.4(MYH6):c.212T>C (p.Val71Ala)
|
rs769686237
|
0.00002
|
|
NM_002471.4(MYH6):c.2161C>T (p.Arg721Trp)
|
rs387906656
|
0.00002
|
|
NM_002471.4(MYH6):c.2173C>T (p.Arg725Cys)
|
rs748667312
|
0.00002
|
|
NM_002471.4(MYH6):c.2189T>C (p.Val730Ala)
|
rs763963623
|
0.00002
|
|
NM_002471.4(MYH6):c.2293-5T>A
|
rs764242322
|
0.00002
|
|
NM_002471.4(MYH6):c.2366G>A (p.Arg789His)
|
rs534878047
|
0.00002
|
|
NM_002471.4(MYH6):c.244C>T (p.Pro82Ser)
|
rs754260713
|
0.00002
|
|
NM_002471.4(MYH6):c.2533G>A (p.Ala845Thr)
|
rs989813600
|
0.00002
|
|
NM_002471.4(MYH6):c.2605G>A (p.Glu869Lys)
|
rs774144472
|
0.00002
|
|
NM_002471.4(MYH6):c.2894A>C (p.Lys965Thr)
|
rs771879878
|
0.00002
|
|
NM_002471.4(MYH6):c.3154C>T (p.Arg1052Ter)
|
rs532606047
|
0.00002
|
|
NM_002471.4(MYH6):c.3481G>A (p.Val1161Met)
|
rs762230455
|
0.00002
|
|
NM_002471.4(MYH6):c.3526A>T (p.Met1176Leu)
|
rs769554911
|
0.00002
|
|
NM_002471.4(MYH6):c.354G>A (p.Ser118=)
|
rs373427673
|
0.00002
|
|
NM_002471.4(MYH6):c.3575C>T (p.Ala1192Val)
|
rs765797952
|
0.00002
|
|
NM_002471.4(MYH6):c.3697G>A (p.Val1233Ile)
|
rs144761217
|
0.00002
|
|
NM_002471.4(MYH6):c.3853G>A (p.Glu1285Lys)
|
rs375655864
|
0.00002
|
|
NM_002471.4(MYH6):c.3998A>G (p.His1333Arg)
|
rs752258570
|
0.00002
|
|
NM_002471.4(MYH6):c.4010C>T (p.Ser1337Leu)
|
rs758922922
|
0.00002
|
|
NM_002471.4(MYH6):c.4084G>A (p.Val1362Ile)
|
rs768398107
|
0.00002
|
|
NM_002471.4(MYH6):c.409G>A (p.Glu137Lys)
|
rs752658033
|
0.00002
|
|
NM_002471.4(MYH6):c.4151G>A (p.Arg1384Gln)
|
rs139265690
|
0.00002
|
|
NM_002471.4(MYH6):c.4182G>C (p.Lys1394Asn)
|
rs753160962
|
0.00002
|
|
NM_002471.4(MYH6):c.4192C>T (p.Arg1398Trp)
|
rs374022661
|
0.00002
|
|
NM_002471.4(MYH6):c.4361T>A (p.Ile1454Asn)
|
rs746342054
|
0.00002
|
|
NM_002471.4(MYH6):c.4438A>G (p.Ser1480Gly)
|
rs930701630
|
0.00002
|
|
NM_002471.4(MYH6):c.4525+6C>T
|
rs1057523902
|
0.00002
|
|
NM_002471.4(MYH6):c.4624C>A (p.Leu1542Met)
|
rs750721562
|
0.00002
|
|
NM_002471.4(MYH6):c.4669G>A (p.Glu1557Lys)
|
rs768283362
|
0.00002
|
|
NM_002471.4(MYH6):c.4685G>A (p.Arg1562Gln)
|
rs371068881
|
0.00002
|
|
NM_002471.4(MYH6):c.4793C>T (p.Ser1598Leu)
|
rs536807961
|
0.00002
|
|
NM_002471.4(MYH6):c.481G>A (p.Ala161Thr)
|
rs754736798
|
0.00002
|
|
NM_002471.4(MYH6):c.485A>G (p.Tyr162Cys)
|
rs397516772
|
0.00002
|
|
NM_002471.4(MYH6):c.4918G>A (p.Glu1640Lys)
|
rs748924413
|
0.00002
|
|
NM_002471.4(MYH6):c.4981G>A (p.Asp1661Asn)
|
rs771357562
|
0.00002
|
|
NM_002471.4(MYH6):c.5002G>A (p.Asp1668Asn)
|
rs200884672
|
0.00002
|
|
NM_002471.4(MYH6):c.5035C>T (p.Arg1679Cys)
|
rs921540558
|
0.00002
|
|
NM_002471.4(MYH6):c.5036G>A (p.Arg1679His)
|
rs483352719
|
0.00002
|
|
NM_002471.4(MYH6):c.5111C>T (p.Ala1704Val)
|
rs776961989
|
0.00002
|
|
NM_002471.4(MYH6):c.5135G>T (p.Ser1712Ile)
|
rs201383498
|
0.00002
|
|
NM_002471.4(MYH6):c.5285C>T (p.Thr1762Met)
|
rs917672791
|
0.00002
|
|
NM_002471.4(MYH6):c.5341C>A (p.Leu1781Met)
|
rs747585087
|
0.00002
|
|
NM_002471.4(MYH6):c.5500C>T (p.Arg1834Cys)
|
rs137923514
|
0.00002
|
|
NM_002471.4(MYH6):c.5575G>A (p.Asp1859Asn)
|
rs1441072867
|
0.00002
|
|
NM_002471.4(MYH6):c.5660C>T (p.Ala1887Val)
|
rs767096302
|
0.00002
|
|
NM_002471.4(MYH6):c.5694C>G (p.Phe1898Leu)
|
rs201199853
|
0.00002
|
|
NM_002471.4(MYH6):c.5695C>T (p.Arg1899Cys)
|
rs371607892
|
0.00002
|
|
NM_002471.4(MYH6):c.5696G>A (p.Arg1899His)
|
rs61731171
|
0.00002
|
|
NM_002471.4(MYH6):c.5794A>T (p.Lys1932Ter)
|
rs763914096
|
0.00002
|
|
NM_002471.4(MYH6):c.691T>C (p.Phe231Leu)
|
rs199916773
|
0.00002
|
|
NM_002471.4(MYH6):c.712C>T (p.Arg238Trp)
|
rs576154116
|
0.00002
|
|
NM_002471.4(MYH6):c.713G>A (p.Arg238Gln)
|
rs556235994
|
0.00002
|
|
NM_002471.4(MYH6):c.731G>A (p.Arg244His)
|
rs200645920
|
0.00002
|
|
NM_002471.4(MYH6):c.934G>A (p.Ala312Thr)
|
rs748143404
|
0.00002
|
|
NM_002633.3(PGM1):c.1543C>T (p.Arg515Trp)
|
rs775651976
|
0.00002
|
|
NM_002633.3(PGM1):c.254G>A (p.Arg85His)
|
rs200225686
|
0.00002
|
|
NM_002633.3(PGM1):c.602G>A (p.Ser201Asn)
|
rs139241922
|
0.00002
|
|
NM_002667.5(PLN):c.34A>G (p.Ile12Val)
|
rs749571694
|
0.00002
|
|
NM_002667.5(PLN):c.36A>G (p.Ile12Met)
|
rs774556120
|
0.00002
|
|
NM_003280.3(TNNC1):c.243G>C (p.Met81Ile)
|
rs545564444
|
0.00002
|
|
NM_003476.5(CSRP3):c.437G>A (p.Arg146His)
|
rs377066670
|
0.00002
|
|
NM_003673.4(TCAP):c.16C>A (p.Leu6Met)
|
rs201664428
|
0.00002
|
|
NM_003673.4(TCAP):c.301G>A (p.Ala101Thr)
|
rs727503455
|
0.00002
|
|
NM_003673.4(TCAP):c.378G>C (p.Gln126His)
|
rs749685550
|
0.00002
|
|
NM_003673.4(TCAP):c.386A>G (p.Asp129Gly)
|
rs1324156287
|
0.00002
|
|
NM_003673.4(TCAP):c.421C>G (p.Pro141Ala)
|
rs45509691
|
0.00002
|
|
NM_003673.4(TCAP):c.497G>A (p.Arg166Lys)
|
rs779217085
|
0.00002
|
|
NM_003673.4(TCAP):c.53G>A (p.Arg18Gln)
|
rs45614536
|
0.00002
|
|
NM_003803.4(MYOM1):c.1186C>T (p.Pro396Ser)
|
rs554996810
|
0.00002
|
|
NM_003803.4(MYOM1):c.1198G>C (p.Ala400Pro)
|
rs1221211210
|
0.00002
|
|
NM_003803.4(MYOM1):c.1566C>A (p.Asn522Lys)
|
rs989664122
|
0.00002
|
|
NM_003803.4(MYOM1):c.1609G>A (p.Gly537Arg)
|
rs1225172308
|
0.00002
|
|
NM_003803.4(MYOM1):c.1679A>G (p.Asn560Ser)
|
rs746723356
|
0.00002
|
|
NM_003803.4(MYOM1):c.1747C>T (p.Arg583Ter)
|
rs765191680
|
0.00002
|
|
NM_003803.4(MYOM1):c.1877T>C (p.Ile626Thr)
|
rs373827799
|
0.00002
|
|
NM_003803.4(MYOM1):c.1922C>T (p.Pro641Leu)
|
rs138431527
|
0.00002
|
|
NM_003803.4(MYOM1):c.1933T>A (p.Ser645Thr)
|
rs780950206
|
0.00002
|
|
NM_003803.4(MYOM1):c.199T>G (p.Ser67Ala)
|
rs373871002
|
0.00002
|
|
NM_003803.4(MYOM1):c.2086C>T (p.Arg696Cys)
|
rs757565820
|
0.00002
|
|
NM_003803.4(MYOM1):c.2161G>A (p.Gly721Ser)
|
rs747350384
|
0.00002
|
|
NM_003803.4(MYOM1):c.2308G>A (p.Gly770Arg)
|
rs192079897
|
0.00002
|
|
NM_003803.4(MYOM1):c.2444A>G (p.Asn815Ser)
|
rs753118578
|
0.00002
|
|
NM_003803.4(MYOM1):c.2515G>T (p.Val839Leu)
|
rs766698339
|
0.00002
|
|
NM_003803.4(MYOM1):c.2653C>G (p.Pro885Ala)
|
rs764303814
|
0.00002
|
|
NM_003803.4(MYOM1):c.3190C>T (p.His1064Tyr)
|
rs755409090
|
0.00002
|
|
NM_003803.4(MYOM1):c.3245C>G (p.Ala1082Gly)
|
rs368707213
|
0.00002
|
|
NM_003803.4(MYOM1):c.3280G>C (p.Ala1094Pro)
|
rs756462640
|
0.00002
|
|
NM_003803.4(MYOM1):c.3308G>A (p.Arg1103Gln)
|
rs186972208
|
0.00002
|
|
NM_003803.4(MYOM1):c.3340C>T (p.Arg1114Cys)
|
rs369479850
|
0.00002
|
|
NM_003803.4(MYOM1):c.3446A>G (p.Asp1149Gly)
|
rs781109917
|
0.00002
|
|
NM_003803.4(MYOM1):c.3502G>A (p.Glu1168Lys)
|
rs765967318
|
0.00002
|
|
NM_003803.4(MYOM1):c.351G>C (p.Lys117Asn)
|
rs766227907
|
0.00002
|
|
NM_003803.4(MYOM1):c.3886C>T (p.Arg1296Ter)
|
rs761289389
|
0.00002
|
|
NM_003803.4(MYOM1):c.4007A>T (p.Asp1336Val)
|
rs575609095
|
0.00002
|
|
NM_003803.4(MYOM1):c.431+5G>C
|
rs772009177
|
0.00002
|
|
NM_003803.4(MYOM1):c.4340-3C>T
|
rs1314554873
|
0.00002
|
|
NM_003803.4(MYOM1):c.4446T>G (p.Thr1482=)
|
rs367695432
|
0.00002
|
|
NM_003803.4(MYOM1):c.4468G>A (p.Val1490Ile)
|
rs749284571
|
0.00002
|
|
NM_003803.4(MYOM1):c.4568C>T (p.Pro1523Leu)
|
rs761317710
|
0.00002
|
|
NM_003803.4(MYOM1):c.4687C>G (p.Gln1563Glu)
|
rs772631678
|
0.00002
|
|
NM_003803.4(MYOM1):c.4786G>A (p.Val1596Met)
|
rs375965840
|
0.00002
|
|
NM_003803.4(MYOM1):c.4814C>T (p.Ser1605Leu)
|
rs373194302
|
0.00002
|
|
NM_003803.4(MYOM1):c.4828G>A (p.Glu1610Lys)
|
rs369026745
|
0.00002
|
|
NM_003803.4(MYOM1):c.4967C>T (p.Thr1656Ile)
|
rs749267113
|
0.00002
|
|
NM_003803.4(MYOM1):c.5005_5006insGT (p.Glu1669fs)
|
rs747369143
|
0.00002
|
|
NM_003803.4(MYOM1):c.548del (p.Gln183fs)
|
rs762972115
|
0.00002
|
|
NM_003803.4(MYOM1):c.74C>A (p.Thr25Asn)
|
rs1018439343
|
0.00002
|
|
NM_003803.4(MYOM1):c.92G>A (p.Arg31Gln)
|
rs777908113
|
0.00002
|
|
NM_003803.4(MYOM1):c.930-3T>C
|
rs1301794916
|
0.00002
|
|
NM_004100.5(EYA4):c.1192-3C>T
|
rs997200665
|
0.00002
|
|
NM_004100.5(EYA4):c.1445C>T (p.Ala482Val)
|
rs1042738234
|
0.00002
|
|
NM_004100.5(EYA4):c.158T>C (p.Leu53Pro)
|
rs753371831
|
0.00002
|
|
NM_004100.5(EYA4):c.1685A>G (p.Tyr562Cys)
|
rs199621266
|
0.00002
|
|
NM_004100.5(EYA4):c.1697G>A (p.Gly566Asp)
|
rs773216143
|
0.00002
|
|
NM_004100.5(EYA4):c.211G>A (p.Glu71Lys)
|
rs537561870
|
0.00002
|
|
NM_004100.5(EYA4):c.217A>G (p.Met73Val)
|
rs970732881
|
0.00002
|
|
NM_004100.5(EYA4):c.233C>G (p.Thr78Arg)
|
rs201644472
|
0.00002
|
|
NM_004100.5(EYA4):c.347C>T (p.Ala116Val)
|
rs747223436
|
0.00002
|
|
NM_004100.5(EYA4):c.523C>A (p.Pro175Thr)
|
rs763350623
|
0.00002
|
|
NM_004100.5(EYA4):c.550A>G (p.Thr184Ala)
|
rs886039203
|
0.00002
|
|
NM_004100.5(EYA4):c.5A>G (p.Glu2Gly)
|
rs780081930
|
0.00002
|
|
NM_004100.5(EYA4):c.704C>T (p.Pro235Leu)
|
rs765608642
|
0.00002
|
|
NM_004100.5(EYA4):c.838C>A (p.Gln280Lys)
|
rs202030718
|
0.00002
|
|
NM_004100.5(EYA4):c.887C>T (p.Ser296Leu)
|
rs755455584
|
0.00002
|
|
NM_004100.5(EYA4):c.946C>T (p.Leu316Phe)
|
rs1188519938
|
0.00002
|
|
NM_004100.5(EYA4):c.961A>G (p.Asn321Asp)
|
rs202049252
|
0.00002
|
|
NM_004100.5(EYA4):c.971-3T>C
|
rs377224718
|
0.00002
|
|
NM_004281.4(BAG3):c.1020A>G (p.Gln340=)
|
rs781187541
|
0.00002
|
|
NM_004281.4(BAG3):c.1034A>T (p.Glu345Val)
|
rs189646603
|
0.00002
|
|
NM_004281.4(BAG3):c.1096G>C (p.Val366Leu)
|
rs1215731985
|
0.00002
|
|
NM_004281.4(BAG3):c.1163A>G (p.Lys388Arg)
|
rs1405607704
|
0.00002
|
|
NM_004281.4(BAG3):c.1411G>A (p.Glu471Lys)
|
rs778496291
|
0.00002
|
|
NM_004281.4(BAG3):c.1528C>T (p.Leu510Phe)
|
rs771188059
|
0.00002
|
|
NM_004281.4(BAG3):c.1558C>T (p.Pro520Ser)
|
rs760699965
|
0.00002
|
|
NM_004281.4(BAG3):c.1578G>T (p.Glu526Asp)
|
rs777325497
|
0.00002
|
|
NM_004281.4(BAG3):c.1673C>T (p.Ala558Val)
|
rs185537639
|
0.00002
|
|
NM_004281.4(BAG3):c.494C>T (p.Ser165Phe)
|
rs143756613
|
0.00002
|
|
NM_004281.4(BAG3):c.668C>G (p.Pro223Arg)
|
rs754615028
|
0.00002
|
|
NM_004281.4(BAG3):c.698A>G (p.Tyr233Cys)
|
rs1415830597
|
0.00002
|
|
NM_004281.4(BAG3):c.715G>A (p.Glu239Lys)
|
rs148544471
|
0.00002
|
|
NM_004281.4(BAG3):c.967A>G (p.Ser323Gly)
|
rs765875627
|
0.00002
|
|
NM_004281.4(BAG3):c.983T>C (p.Val328Ala)
|
rs765627299
|
0.00002
|
|
NM_004415.4(DSP):c.1419+5G>C
|
rs1004508873
|
0.00002
|
|
NM_004415.4(DSP):c.1732A>C (p.Lys578Gln)
|
rs761478865
|
0.00002
|
|
NM_004415.4(DSP):c.1903+4G>A
|
rs757726608
|
0.00002
|
|
NM_004415.4(DSP):c.2234A>G (p.Glu745Gly)
|
rs969462343
|
0.00002
|
|
NM_004415.4(DSP):c.2479A>T (p.Thr827Ser)
|
rs1009521297
|
0.00002
|
|
NM_004415.4(DSP):c.2674C>T (p.Arg892Cys)
|
rs750800025
|
0.00002
|
|
NM_004415.4(DSP):c.3835G>A (p.Ala1279Thr)
|
rs763915365
|
0.00002
|
|
NM_004415.4(DSP):c.384G>A (p.Met128Ile)
|
rs930440897
|
0.00002
|
|
NM_004415.4(DSP):c.5009A>G (p.Gln1670Arg)
|
rs1052973336
|
0.00002
|
|
NM_004415.4(DSP):c.517A>T (p.Thr173Ser)
|
rs1372912970
|
0.00002
|
|
NM_004415.4(DSP):c.5183G>A (p.Arg1728Lys)
|
rs750854585
|
0.00002
|
|
NM_004415.4(DSP):c.6476A>T (p.Tyr2159Phe)
|
rs1581822548
|
0.00002
|
|
NM_004415.4(DSP):c.7200A>C (p.Glu2400Asp)
|
rs1209240894
|
0.00002
|
|
NM_004415.4(DSP):c.740C>T (p.Ala247Val)
|
rs544360130
|
0.00002
|
|
NM_004415.4(DSP):c.82T>G (p.Tyr28Asp)
|
rs766454930
|
0.00002
|
|
NM_004453.4(ETFDH):c.1732C>T (p.Arg578Trp)
|
rs763912783
|
0.00002
|
|
NM_004453.4(ETFDH):c.636A>T (p.Lys212Asn)
|
rs758859840
|
0.00002
|
|
NM_004453.4(ETFDH):c.808A>G (p.Thr270Ala)
|
rs398124154
|
0.00002
|
|
NM_004517.4(ILK):c.1086G>C (p.Gln362His)
|
rs142990615
|
0.00002
|
|
NM_004517.4(ILK):c.128G>A (p.Arg43Gln)
|
rs768217957
|
0.00002
|
|
NM_004517.4(ILK):c.1306C>T (p.Arg436Ter)
|
rs1477497923
|
0.00002
|
|
NM_004517.4(ILK):c.1347G>A (p.Met449Ile)
|
rs1323106962
|
0.00002
|
|
NM_004517.4(ILK):c.137G>A (p.Arg46His)
|
rs370736279
|
0.00002
|
|
NM_004517.4(ILK):c.373C>G (p.Leu125Val)
|
rs1305586718
|
0.00002
|
|
NM_004517.4(ILK):c.647A>G (p.Asp216Gly)
|
rs576804127
|
0.00002
|
|
NM_004517.4(ILK):c.778C>T (p.Pro260Ser)
|
rs750354350
|
0.00002
|
|
NM_005159.5(ACTC1):c.19A>T (p.Thr7Ser)
|
rs746748461
|
0.00002
|
|
NM_005159.5(ACTC1):c.217A>G (p.Ile73Val)
|
rs750951965
|
0.00002
|
|
NM_005343.4(HRAS):c.111+6C>T
|
rs377130570
|
0.00002
|
|
NM_005343.4(HRAS):c.367C>T (p.Arg123Cys)
|
rs369106578
|
0.00002
|
|
NM_006073.4(TRDN):c.1043A>G (p.Glu348Gly)
|
rs755708624
|
0.00002
|
|
NM_006073.4(TRDN):c.110C>T (p.Thr37Ile)
|
rs1289581577
|
0.00002
|
|
NM_006073.4(TRDN):c.1220-3C>T
|
rs773907258
|
0.00002
|
|
NM_006073.4(TRDN):c.127A>G (p.Thr43Ala)
|
rs367564871
|
0.00002
|
|
NM_006073.4(TRDN):c.1547G>C (p.Gly516Ala)
|
rs145032876
|
0.00002
|
|
NM_006073.4(TRDN):c.1567G>C (p.Glu523Gln)
|
rs1319380436
|
0.00002
|
|
NM_006073.4(TRDN):c.1582A>G (p.Lys528Glu)
|
rs774550097
|
0.00002
|
|
NM_006073.4(TRDN):c.1671A>G (p.Pro557=)
|
rs935484433
|
0.00002
|
|
NM_006073.4(TRDN):c.1934T>G (p.Leu645Ter)
|
rs747836980
|
0.00002
|
|
NM_006073.4(TRDN):c.1976-6C>G
|
rs368752139
|
0.00002
|
|
NM_006073.4(TRDN):c.1990G>A (p.Val664Ile)
|
rs756257644
|
0.00002
|
|
NM_006073.4(TRDN):c.2110T>A (p.Phe704Ile)
|
rs780892167
|
0.00002
|
|
NM_006073.4(TRDN):c.2164C>G (p.Pro722Ala)
|
rs774449661
|
0.00002
|
|
NM_006073.4(TRDN):c.2182G>A (p.Gly728Arg)
|
rs777497275
|
0.00002
|
|
NM_006073.4(TRDN):c.2185C>T (p.Gln729Ter)
|
rs769741426
|
0.00002
|
|
NM_006073.4(TRDN):c.439A>G (p.Lys147Glu)
|
rs554795197
|
0.00002
|
|
NM_006073.4(TRDN):c.605C>T (p.Ala202Val)
|
rs765653366
|
0.00002
|
|
NM_006073.4(TRDN):c.863C>T (p.Pro288Leu)
|
rs1408332939
|
0.00002
|
|
NM_006270.5(RRAS):c.10G>T (p.Gly4Trp)
|
rs2081015843
|
0.00002
|
|
NM_006270.5(RRAS):c.232C>T (p.Arg78Trp)
|
rs755565332
|
0.00002
|
|
NM_006270.5(RRAS):c.487T>C (p.Ser163Pro)
|
rs1446034967
|
0.00002
|
|
NM_006270.5(RRAS):c.533A>G (p.Asn178Ser)
|
rs762794552
|
0.00002
|
|
NM_006270.5(RRAS):c.573-16T>A
|
rs756598983
|
0.00002
|
|
NM_006270.5(RRAS):c.627G>T (p.Lys209Asn)
|
rs771557284
|
0.00002
|
|
NM_006284.4(TAF10):c.*1280C>T
|
rs750836317
|
0.00002
|
|
NM_006393.3(NEBL):c.1110A>C (p.Gln370His)
|
rs1267119039
|
0.00002
|
|
NM_006393.3(NEBL):c.1279C>T (p.Leu427Phe)
|
rs770142870
|
0.00002
|
|
NM_006393.3(NEBL):c.1429G>C (p.Ala477Pro)
|
rs758358892
|
0.00002
|
|
NM_006393.3(NEBL):c.16T>C (p.Phe6Leu)
|
rs777445403
|
0.00002
|
|
NM_006393.3(NEBL):c.1963-13C>T
|
rs727504904
|
0.00002
|
|
NM_006393.3(NEBL):c.2026G>A (p.Val676Met)
|
rs149878829
|
0.00002
|
|
NM_006393.3(NEBL):c.2044C>T (p.Gln682Ter)
|
rs763512999
|
0.00002
|
|
NM_006393.3(NEBL):c.2104C>T (p.Pro702Ser)
|
rs780795108
|
0.00002
|
|
NM_006393.3(NEBL):c.2108A>G (p.Glu703Gly)
|
rs907637021
|
0.00002
|
|
NM_006393.3(NEBL):c.218T>C (p.Met73Thr)
|
rs374218451
|
0.00002
|
|
NM_006393.3(NEBL):c.2241G>A (p.Ser747=)
|
rs377702958
|
0.00002
|
|
NM_006393.3(NEBL):c.2310G>A (p.Met770Ile)
|
rs200334335
|
0.00002
|
|
NM_006393.3(NEBL):c.2329C>T (p.Gln777Ter)
|
rs752922937
|
0.00002
|
|
NM_006393.3(NEBL):c.2485G>A (p.Val829Met)
|
rs727504979
|
0.00002
|
|
NM_006393.3(NEBL):c.2645G>A (p.Arg882Gln)
|
rs758877499
|
0.00002
|
|
NM_006393.3(NEBL):c.2868A>G (p.Leu956=)
|
rs779415582
|
0.00002
|
|
NM_006393.3(NEBL):c.36A>C (p.Glu12Asp)
|
rs368491819
|
0.00002
|
|
NM_006393.3(NEBL):c.571A>T (p.Ile191Phe)
|
rs746403443
|
0.00002
|
|
NM_006393.3(NEBL):c.599G>C (p.Gly200Ala)
|
rs727503336
|
0.00002
|
|
NM_006393.3(NEBL):c.650A>G (p.Glu217Gly)
|
rs755291598
|
0.00002
|
|
NM_006393.3(NEBL):c.807C>G (p.Tyr269Ter)
|
rs748781067
|
0.00002
|
|
NM_006440.5(TXNRD2):c.104-3C>G
|
rs746380381
|
0.00002
|
|
NM_006440.5(TXNRD2):c.1090C>T (p.Arg364Trp)
|
rs772667712
|
0.00002
|
|
NM_006440.5(TXNRD2):c.1123G>A (p.Gly375Arg)
|
rs757239766
|
0.00002
|
|
NM_006440.5(TXNRD2):c.112C>T (p.Arg38Trp)
|
rs1044687486
|
0.00002
|
|
NM_006440.5(TXNRD2):c.1321C>T (p.Arg441Ter)
|
rs200162480
|
0.00002
|
|
NM_006440.5(TXNRD2):c.1322G>A (p.Arg441Gln)
|
rs759374389
|
0.00002
|
|
NM_006440.5(TXNRD2):c.1348-9G>A
|
rs774694967
|
0.00002
|
|
NM_006440.5(TXNRD2):c.1463C>T (p.Ala488Val)
|
rs752947034
|
0.00002
|
|
NM_006440.5(TXNRD2):c.1534C>T (p.Arg512Cys)
|
rs201943415
|
0.00002
|
|
NM_006440.5(TXNRD2):c.214G>A (p.Glu72Lys)
|
rs779740988
|
0.00002
|
|
NM_006440.5(TXNRD2):c.361G>A (p.Val121Met)
|
rs756368327
|
0.00002
|
|
NM_006440.5(TXNRD2):c.417del (p.Asn140fs)
|
rs780054798
|
0.00002
|
|
NM_006440.5(TXNRD2):c.571C>T (p.Arg191Trp)
|
rs751123675
|
0.00002
|
|
NM_006440.5(TXNRD2):c.847C>T (p.Arg283Trp)
|
rs200981451
|
0.00002
|
|
NM_006440.5(TXNRD2):c.868G>A (p.Gly290Ser)
|
rs777357363
|
0.00002
|
|
NM_006440.5(TXNRD2):c.869G>T (p.Gly290Val)
|
rs543290126
|
0.00002
|
|
NM_006440.5(TXNRD2):c.969A>C (p.Arg323Ser)
|
rs765171416
|
0.00002
|
|
NM_006912.6(RIT1):c.367C>T (p.Arg123Cys)
|
rs1213963509
|
0.00002
|
|
NM_006912.6(RIT1):c.368G>A (p.Arg123His)
|
rs977405637
|
0.00002
|
|
NM_006912.6(RIT1):c.646G>A (p.Asp216Asn)
|
rs545031201
|
0.00002
|
|
NM_006939.4(SOS2):c.1156G>C (p.Asp386His)
|
rs776909576
|
0.00002
|
|
NM_006939.4(SOS2):c.1208G>C (p.Cys403Ser)
|
rs201821194
|
0.00002
|
|
NM_006939.4(SOS2):c.1256A>C (p.Lys419Thr)
|
rs199998698
|
0.00002
|
|
NM_006939.4(SOS2):c.2315T>G (p.Phe772Cys)
|
rs200715068
|
0.00002
|
|
NM_006939.4(SOS2):c.2347G>T (p.Ala783Ser)
|
rs774498876
|
0.00002
|
|
NM_006939.4(SOS2):c.2384+5A>G
|
rs376903120
|
0.00002
|
|
NM_006939.4(SOS2):c.2396C>T (p.Pro799Leu)
|
rs773672997
|
0.00002
|
|
NM_006939.4(SOS2):c.2492T>G (p.Leu831Arg)
|
rs553153992
|
0.00002
|
|
NM_006939.4(SOS2):c.2590A>T (p.Asn864Tyr)
|
rs781119008
|
0.00002
|
|
NM_006939.4(SOS2):c.3338-4A>G
|
rs777684425
|
0.00002
|
|
NM_006939.4(SOS2):c.3403A>G (p.Ser1135Gly)
|
rs375478974
|
0.00002
|
|
NM_006939.4(SOS2):c.364G>A (p.Val122Met)
|
rs1208838203
|
0.00002
|
|
NM_006939.4(SOS2):c.714T>G (p.Ser238=)
|
rs750665891
|
0.00002
|
|
NM_012082.4(ZFPM2):c.1866A>G (p.Gln622=)
|
rs536037180
|
0.00002
|
|
NM_012082.4(ZFPM2):c.1889C>T (p.Thr630Ile)
|
rs756076552
|
0.00002
|
|
NM_012082.4(ZFPM2):c.2300A>G (p.Asn767Ser)
|
rs374095734
|
0.00002
|
|
NM_012082.4(ZFPM2):c.2393A>G (p.His798Arg)
|
rs544936088
|
0.00002
|
|
NM_012082.4(ZFPM2):c.2651G>A (p.Arg884His)
|
rs747995106
|
0.00002
|
|
NM_012082.4(ZFPM2):c.2759G>A (p.Gly920Glu)
|
rs747010827
|
0.00002
|
|
NM_013266.4(CTNNA3):c.1128+7G>T
|
rs200113495
|
0.00002
|
|
NM_013266.4(CTNNA3):c.1402G>A (p.Ala468Thr)
|
rs151007312
|
0.00002
|
|
NM_013266.4(CTNNA3):c.1451G>A (p.Arg484His)
|
rs748621335
|
0.00002
|
|
NM_013266.4(CTNNA3):c.16_17insA (p.Pro6fs)
|
rs776492451
|
0.00002
|
|
NM_013266.4(CTNNA3):c.1853A>G (p.His618Arg)
|
rs184992188
|
0.00002
|
|
NM_013266.4(CTNNA3):c.1880T>A (p.Ile627Asn)
|
rs755658279
|
0.00002
|
|
NM_013266.4(CTNNA3):c.213C>G (p.Asp71Glu)
|
rs771791661
|
0.00002
|
|
NM_013266.4(CTNNA3):c.370G>A (p.Ala124Thr)
|
rs779719958
|
0.00002
|
|
NM_013266.4(CTNNA3):c.592C>A (p.Pro198Thr)
|
rs777817815
|
0.00002
|
|
NM_013266.4(CTNNA3):c.622C>T (p.Arg208Ter)
|
rs755323657
|
0.00002
|
|
NM_013266.4(CTNNA3):c.670G>C (p.Ala224Pro)
|
rs1396052717
|
0.00002
|
|
NM_013266.4(CTNNA3):c.67G>A (p.Val23Met)
|
rs776250185
|
0.00002
|
|
NM_013266.4(CTNNA3):c.764C>T (p.Ala255Val)
|
rs1477830086
|
0.00002
|
|
NM_013266.4(CTNNA3):c.76C>A (p.Leu26Ile)
|
rs1327418198
|
0.00002
|
|
NM_013266.4(CTNNA3):c.99+5T>C
|
rs200746095
|
0.00002
|
|
NM_014000.3(VCL):c.1019C>T (p.Ala340Val)
|
rs374928228
|
0.00002
|
|
NM_014000.3(VCL):c.1031G>C (p.Gly344Ala)
|
rs778875353
|
0.00002
|
|
NM_014000.3(VCL):c.1558C>T (p.Arg520Trp)
|
rs377722209
|
0.00002
|
|
NM_014000.3(VCL):c.158A>G (p.Asn53Ser)
|
rs751938777
|
0.00002
|
|
NM_014000.3(VCL):c.1606C>A (p.Pro536Thr)
|
rs370058111
|
0.00002
|
|
NM_014000.3(VCL):c.1756C>T (p.Arg586Trp)
|
rs770778046
|
0.00002
|
|
NM_014000.3(VCL):c.1803T>A (p.Asp601Glu)
|
rs1235063893
|
0.00002
|
|
NM_014000.3(VCL):c.1814C>G (p.Pro605Arg)
|
rs960761223
|
0.00002
|
|
NM_014000.3(VCL):c.2038C>T (p.Arg680Cys)
|
rs759356162
|
0.00002
|
|
NM_014000.3(VCL):c.2204A>G (p.Asp735Gly)
|
rs1426976613
|
0.00002
|
|
NM_014000.3(VCL):c.224C>T (p.Pro75Leu)
|
rs373830664
|
0.00002
|
|
NM_014000.3(VCL):c.2747C>T (p.Pro916Leu)
|
rs143321584
|
0.00002
|
|
NM_014000.3(VCL):c.2905G>A (p.Ala969Thr)
|
rs199751261
|
0.00002
|
|
NM_014000.3(VCL):c.3258+4T>C
|
rs1268605937
|
0.00002
|
|
NM_014000.3(VCL):c.676G>A (p.Ala226Thr)
|
rs146910007
|
0.00002
|
|
NM_014000.3(VCL):c.737G>A (p.Arg246His)
|
rs746577068
|
0.00002
|
|
NM_014000.3(VCL):c.783+5G>A
|
rs767694507
|
0.00002
|
|
NM_014000.3(VCL):c.806C>G (p.Ala269Gly)
|
rs762710405
|
0.00002
|
|
NM_014000.3(VCL):c.853C>T (p.Arg285Cys)
|
rs757517552
|
0.00002
|
|
NM_014476.6(PDLIM3):c.160G>A (p.Gly54Ser)
|
rs754889669
|
0.00002
|
|
NM_014476.6(PDLIM3):c.278C>G (p.Ser93Cys)
|
rs373657946
|
0.00002
|
|
NM_014476.6(PDLIM3):c.476T>A (p.Ile159Asn)
|
rs730880177
|
0.00002
|
|
NM_014476.6(PDLIM3):c.704G>A (p.Arg235Gln)
|
rs765915778
|
0.00002
|
|
NM_014476.6(PDLIM3):c.803C>T (p.Pro268Leu)
|
rs1188446991
|
0.00002
|
|
NM_014476.6(PDLIM3):c.937C>T (p.Arg313Trp)
|
rs144286715
|
0.00002
|
|
NM_014476.6(PDLIM3):c.938G>A (p.Arg313Gln)
|
rs755255012
|
0.00002
|
|
NM_014908.4(DOLK):c.1006G>A (p.Ala336Thr)
|
rs769241947
|
0.00002
|
|
NM_014908.4(DOLK):c.1087G>A (p.Ala363Thr)
|
rs1588262062
|
0.00002
|
|
NM_014908.4(DOLK):c.1201_1202del (p.Ser401fs)
|
rs919111760
|
0.00002
|
|
NM_014908.4(DOLK):c.1315G>A (p.Val439Ile)
|
rs372057636
|
0.00002
|
|
NM_014908.4(DOLK):c.164A>G (p.Tyr55Cys)
|
rs41305507
|
0.00002
|
|
NM_014908.4(DOLK):c.385G>T (p.Ala129Ser)
|
rs761013512
|
0.00002
|
|
NM_014908.4(DOLK):c.429C>G (p.Ile143Met)
|
rs1261719011
|
0.00002
|
|
NM_014908.4(DOLK):c.572C>A (p.Pro191His)
|
rs767965852
|
0.00002
|
|
NM_014908.4(DOLK):c.589G>A (p.Val197Ile)
|
rs373587710
|
0.00002
|
|
NM_014908.4(DOLK):c.8G>A (p.Arg3Gln)
|
rs373115419
|
0.00002
|
|
NM_015374.3(SUN2):c.1061G>A (p.Arg354His)
|
rs1240205767
|
0.00002
|
|
NM_015374.3(SUN2):c.1136G>A (p.Arg379Gln)
|
rs763323157
|
0.00002
|
|
NM_015374.3(SUN2):c.1238G>A (p.Arg413Gln)
|
rs748611243
|
0.00002
|
|
NM_015374.3(SUN2):c.1349G>A (p.Arg450Gln)
|
rs1371797768
|
0.00002
|
|
NM_015374.3(SUN2):c.1467G>C (p.Glu489Asp)
|
rs148038201
|
0.00002
|
|
NM_015374.3(SUN2):c.1712C>T (p.Thr571Met)
|
rs752150588
|
0.00002
|
|
NM_015374.3(SUN2):c.1785T>A (p.Asp595Glu)
|
rs770892695
|
0.00002
|
|
NM_015374.3(SUN2):c.1879G>C (p.Glu627Gln)
|
rs769627673
|
0.00002
|
|
NM_015374.3(SUN2):c.1997C>T (p.Thr666Ile)
|
rs755259603
|
0.00002
|
|
NM_015374.3(SUN2):c.304C>T (p.Arg102Trp)
|
rs146324000
|
0.00002
|
|
NM_015374.3(SUN2):c.425-3C>A
|
rs368321480
|
0.00002
|
|
NM_015374.3(SUN2):c.542A>G (p.Tyr181Cys)
|
rs776343176
|
0.00002
|
|
NM_015374.3(SUN2):c.583G>C (p.Ala195Pro)
|
rs778335481
|
0.00002
|
|
NM_015374.3(SUN2):c.615-2A>G
|
rs1272584066
|
0.00002
|
|
NM_015374.3(SUN2):c.817G>A (p.Glu273Lys)
|
rs747536298
|
0.00002
|
|
NM_015374.3(SUN2):c.824G>A (p.Arg275His)
|
rs780349096
|
0.00002
|
|
NM_015374.3(SUN2):c.931C>T (p.Arg311Trp)
|
rs764150835
|
0.00002
|
|
NM_016203.4(PRKAG2):c.1051+3A>G
|
rs376499470
|
0.00002
|
|
NM_016203.4(PRKAG2):c.106C>T (p.His36Tyr)
|
rs377603922
|
0.00002
|
|
NM_016203.4(PRKAG2):c.113C>T (p.Pro38Leu)
|
rs984007665
|
0.00002
|
|
NM_016203.4(PRKAG2):c.1432G>A (p.Val478Ile)
|
rs778668093
|
0.00002
|
|
NM_016203.4(PRKAG2):c.1648A>C (p.Ile550Leu)
|
rs752198913
|
0.00002
|
|
NM_016203.4(PRKAG2):c.1705G>C (p.Glu569Gln)
|
rs730880983
|
0.00002
|
|
NM_016203.4(PRKAG2):c.181C>T (p.Arg61Ter)
|
rs770100112
|
0.00002
|
|
NM_016203.4(PRKAG2):c.431C>T (p.Pro144Leu)
|
rs150140412
|
0.00002
|
|
NM_016203.4(PRKAG2):c.557G>A (p.Arg186Gln)
|
rs145006140
|
0.00002
|
|
NM_016599.5(MYOZ2):c.200A>G (p.Lys67Arg)
|
rs1215550950
|
0.00002
|
|
NM_016599.5(MYOZ2):c.311C>T (p.Ala104Val)
|
rs772659939
|
0.00002
|
|
NM_016599.5(MYOZ2):c.376+2T>C
|
rs112675369
|
0.00002
|
|
NM_016599.5(MYOZ2):c.689G>A (p.Arg230Gln)
|
rs727503332
|
0.00002
|
|
NM_020297.4(ABCC9):c.1400C>T (p.Ala467Val)
|
rs770976719
|
0.00002
|
|
NM_020297.4(ABCC9):c.1595T>C (p.Phe532Ser)
|
rs934763013
|
0.00002
|
|
NM_020297.4(ABCC9):c.1618+6T>C
|
rs769869371
|
0.00002
|
|
NM_020297.4(ABCC9):c.1828_1829del (p.Leu610fs)
|
rs776934642
|
0.00002
|
|
NM_020297.4(ABCC9):c.1859G>A (p.Arg620Gln)
|
rs139539832
|
0.00002
|
|
NM_020297.4(ABCC9):c.1879C>G (p.Pro627Ala)
|
rs367770980
|
0.00002
|
|
NM_020297.4(ABCC9):c.200C>T (p.Pro67Leu)
|
rs766600615
|
0.00002
|
|
NM_020297.4(ABCC9):c.2011G>A (p.Ala671Thr)
|
rs1220942080
|
0.00002
|
|
NM_020297.4(ABCC9):c.2357A>G (p.Asp786Gly)
|
rs753010015
|
0.00002
|
|
NM_020297.4(ABCC9):c.2554C>T (p.Gln852Ter)
|
rs193922683
|
0.00002
|
|
NM_020297.4(ABCC9):c.3096+3A>G
|
rs751828985
|
0.00002
|
|
NM_020297.4(ABCC9):c.3221A>G (p.Asn1074Ser)
|
rs765629988
|
0.00002
|
|
NM_020297.4(ABCC9):c.3590G>A (p.Arg1197His)
|
rs755156050
|
0.00002
|
|
NM_020297.4(ABCC9):c.3914A>G (p.His1305Arg)
|
rs765744015
|
0.00002
|
|
NM_020297.4(ABCC9):c.4212-3C>T
|
rs773353019
|
0.00002
|
|
NM_020297.4(ABCC9):c.4512+805T>C
|
rs754437551
|
0.00002
|
|
NM_020297.4(ABCC9):c.497G>A (p.Arg166His)
|
rs772244404
|
0.00002
|
|
NM_020297.4(ABCC9):c.575G>A (p.Arg192Lys)
|
rs727504612
|
0.00002
|
|
NM_020433.5(JPH2):c.1564C>T (p.Arg522Trp)
|
rs770850932
|
0.00002
|
|
NM_020433.5(JPH2):c.1736C>T (p.Pro579Leu)
|
rs953353202
|
0.00002
|
|
NM_020433.5(JPH2):c.1772G>T (p.Gly591Val)
|
rs766721028
|
0.00002
|
|
NM_020433.5(JPH2):c.1777G>A (p.Glu593Lys)
|
rs1160134535
|
0.00002
|
|
NM_020433.5(JPH2):c.1790C>G (p.Ser597Trp)
|
rs775179837
|
0.00002
|
|
NM_020433.5(JPH2):c.1951A>G (p.Lys651Glu)
|
rs778410296
|
0.00002
|
|
NM_020433.5(JPH2):c.541G>A (p.Ala181Thr)
|
rs1304705938
|
0.00002
|
|
NM_021044.4(DHH):c.860C>A (p.Ala287Glu)
|
rs1033987082
|
0.00002
|
|
NM_021167.5(GATAD1):c.406A>G (p.Ile136Val)
|
rs200665705
|
0.00002
|
|
NM_021167.5(GATAD1):c.613A>G (p.Ile205Val)
|
rs794729022
|
0.00002
|
|
NM_022114.4(PRDM16):c.1393C>G (p.Pro465Ala)
|
rs763015619
|
0.00002
|
|
NM_022114.4(PRDM16):c.1399C>T (p.Pro467Ser)
|
rs370407029
|
0.00002
|
|
NM_022114.4(PRDM16):c.1441G>A (p.Ala481Thr)
|
rs377240759
|
0.00002
|
|
NM_022114.4(PRDM16):c.1577C>T (p.Pro526Leu)
|
rs1212640513
|
0.00002
|
|
NM_022114.4(PRDM16):c.1715C>A (p.Ala572Asp)
|
rs750914621
|
0.00002
|
|
NM_022114.4(PRDM16):c.1745G>A (p.Arg582His)
|
rs529401311
|
0.00002
|
|
NM_022114.4(PRDM16):c.1801G>A (p.Gly601Ser)
|
rs773915002
|
0.00002
|
|
NM_022114.4(PRDM16):c.1820T>C (p.Val607Ala)
|
rs866882253
|
0.00002
|
|
NM_022114.4(PRDM16):c.1850C>T (p.Thr617Met)
|
rs767242607
|
0.00002
|
|
NM_022114.4(PRDM16):c.2018C>T (p.Ser673Leu)
|
rs1270179748
|
0.00002
|
|
NM_022114.4(PRDM16):c.2392G>A (p.Gly798Ser)
|
rs371920642
|
0.00002
|
|
NM_022114.4(PRDM16):c.2435G>A (p.Arg812His)
|
rs764936593
|
0.00002
|
|
NM_022114.4(PRDM16):c.2444A>G (p.Gln815Arg)
|
rs1369390354
|
0.00002
|
|
NM_022114.4(PRDM16):c.2779C>A (p.His927Asn)
|
rs1043747428
|
0.00002
|
|
NM_022114.4(PRDM16):c.2940-5T>G
|
rs1471478685
|
0.00002
|
|
NM_022114.4(PRDM16):c.3139C>A (p.His1047Asn)
|
rs766964168
|
0.00002
|
|
NM_022114.4(PRDM16):c.3363G>C (p.Glu1121Asp)
|
rs749724757
|
0.00002
|
|
NM_022114.4(PRDM16):c.3370G>A (p.Asp1124Asn)
|
rs771432997
|
0.00002
|
|
NM_022114.4(PRDM16):c.3595C>T (p.Arg1199Cys)
|
rs376762015
|
0.00002
|
|
NM_022114.4(PRDM16):c.3670A>G (p.Thr1224Ala)
|
rs751991022
|
0.00002
|
|
NM_022114.4(PRDM16):c.3820A>G (p.Asn1274Asp)
|
rs1379723348
|
0.00002
|
|
NM_022114.4(PRDM16):c.524C>T (p.Ala175Val)
|
rs371532027
|
0.00002
|
|
NM_022114.4(PRDM16):c.811G>A (p.Glu271Lys)
|
rs200052869
|
0.00002
|
|
NM_024334.3(TMEM43):c.1000+5G>T
|
rs376589026
|
0.00002
|
|
NM_024334.3(TMEM43):c.1022G>A (p.Arg341Gln)
|
rs749727938
|
0.00002
|
|
NM_024334.3(TMEM43):c.1059C>G (p.Phe353Leu)
|
rs730880227
|
0.00002
|
|
NM_024334.3(TMEM43):c.1172G>A (p.Arg391Gln)
|
rs757742631
|
0.00002
|
|
NM_024334.3(TMEM43):c.1184C>G (p.Pro395Arg)
|
rs1169613716
|
0.00002
|
|
NM_024334.3(TMEM43):c.179C>T (p.Thr60Met)
|
rs1362645227
|
0.00002
|
|
NM_024334.3(TMEM43):c.317A>G (p.Tyr106Cys)
|
rs747310600
|
0.00002
|
|
NM_024334.3(TMEM43):c.31C>T (p.Arg11Trp)
|
rs201085402
|
0.00002
|
|
NM_024334.3(TMEM43):c.32G>A (p.Arg11Gln)
|
rs568179990
|
0.00002
|
|
NM_024334.3(TMEM43):c.355G>A (p.Val119Met)
|
rs757430674
|
0.00002
|
|
NM_024334.3(TMEM43):c.475A>G (p.Lys159Glu)
|
rs1269566290
|
0.00002
|
|
NM_024334.3(TMEM43):c.625T>G (p.Ser209Ala)
|
rs397517386
|
0.00002
|
|
NM_024334.3(TMEM43):c.705+6C>T
|
rs185025731
|
0.00002
|
|
NM_024334.3(TMEM43):c.719G>A (p.Arg240His)
|
rs758817244
|
0.00002
|
|
NM_024334.3(TMEM43):c.778G>A (p.Val260Met)
|
rs758872772
|
0.00002
|
|
NM_024334.3(TMEM43):c.956T>C (p.Met319Thr)
|
rs775113815
|
0.00002
|
|
NM_024334.3(TMEM43):c.98C>T (p.Ser33Leu)
|
rs539753097
|
0.00002
|
|
NM_024422.6(DSC2):c.1033A>G (p.Ile345Val)
|
rs1177194145
|
0.00002
|
|
NM_024422.6(DSC2):c.1231A>G (p.Lys411Glu)
|
rs560482778
|
0.00002
|
|
NM_024422.6(DSC2):c.1438A>G (p.Met480Val)
|
rs370616107
|
0.00002
|
|
NM_024422.6(DSC2):c.1456G>A (p.Val486Met)
|
rs188634770
|
0.00002
|
|
NM_024422.6(DSC2):c.149G>A (p.Gly50Asp)
|
rs397517391
|
0.00002
|
|
NM_024422.6(DSC2):c.1667G>A (p.Gly556Glu)
|
rs977269905
|
0.00002
|
|
NM_024422.6(DSC2):c.1846A>G (p.Thr616Ala)
|
rs753887142
|
0.00002
|
|
NM_024422.6(DSC2):c.1862G>T (p.Arg621Ile)
|
rs1225904818
|
0.00002
|
|
NM_024422.6(DSC2):c.20C>T (p.Ser7Phe)
|
rs1227564823
|
0.00002
|
|
NM_024422.6(DSC2):c.2138C>T (p.Thr713Met)
|
rs180863872
|
0.00002
|
|
NM_024422.6(DSC2):c.2287G>A (p.Ala763Thr)
|
rs777004957
|
0.00002
|
|
NM_024422.6(DSC2):c.2381C>T (p.Ser794Leu)
|
rs1617629
|
0.00002
|
|
NM_024422.6(DSC2):c.2392C>T (p.Arg798Trp)
|
rs201548399
|
0.00002
|
|
NM_024422.6(DSC2):c.2475G>C (p.Glu825Asp)
|
rs776401728
|
0.00002
|
|
NM_024422.6(DSC2):c.394C>T (p.Arg132Cys)
|
rs727504578
|
0.00002
|
|
NM_024422.6(DSC2):c.658G>A (p.Gly220Arg)
|
rs750961818
|
0.00002
|
|
NM_024422.6(DSC2):c.745A>C (p.Thr249Pro)
|
rs149848359
|
0.00002
|
|
NM_024422.6(DSC2):c.824C>T (p.Thr275Met)
|
rs397517404
|
0.00002
|
|
NM_024422.6(DSC2):c.865C>T (p.Pro289Ser)
|
rs200802591
|
0.00002
|
|
NM_024422.6(DSC2):c.874C>T (p.Pro292Ser)
|
rs767340313
|
0.00002
|
|
NM_024422.6(DSC2):c.898A>G (p.Thr300Ala)
|
rs531245154
|
0.00002
|
|
NM_024422.6(DSC2):c.965A>G (p.Lys322Arg)
|
rs1157312147
|
0.00002
|
|
NM_024422.6(DSC2):c.977A>C (p.Gln326Pro)
|
rs397517409
|
0.00002
|
|
NM_032578.4(MYPN):c.1088C>T (p.Ser363Phe)
|
rs760566381
|
0.00002
|
|
NM_032578.4(MYPN):c.1096T>C (p.Ser366Pro)
|
rs535795936
|
0.00002
|
|
NM_032578.4(MYPN):c.1105G>A (p.Asp369Asn)
|
rs764775347
|
0.00002
|
|
NM_032578.4(MYPN):c.1196C>T (p.Pro399Leu)
|
rs142973768
|
0.00002
|
|
NM_032578.4(MYPN):c.1226G>A (p.Arg409His)
|
rs200352249
|
0.00002
|
|
NM_032578.4(MYPN):c.1483+6G>C
|
rs775382618
|
0.00002
|
|
NM_032578.4(MYPN):c.1716A>C (p.Gln572His)
|
rs567930066
|
0.00002
|
|
NM_032578.4(MYPN):c.1803C>A (p.Asn601Lys)
|
rs1327960422
|
0.00002
|
|
NM_032578.4(MYPN):c.1966C>T (p.Pro656Ser)
|
rs930830802
|
0.00002
|
|
NM_032578.4(MYPN):c.2189C>T (p.Thr730Met)
|
rs373040567
|
0.00002
|
|
NM_032578.4(MYPN):c.2240T>C (p.Leu747Ser)
|
rs758580382
|
0.00002
|
|
NM_032578.4(MYPN):c.2246G>A (p.Ser749Asn)
|
rs780085391
|
0.00002
|
|
NM_032578.4(MYPN):c.2428C>T (p.Arg810Cys)
|
rs369380120
|
0.00002
|
|
NM_032578.4(MYPN):c.2516C>A (p.Ala839Asp)
|
rs757190838
|
0.00002
|
|
NM_032578.4(MYPN):c.2695A>C (p.Asn899His)
|
rs774900760
|
0.00002
|
|
NM_032578.4(MYPN):c.2816C>T (p.Thr939Met)
|
rs778346244
|
0.00002
|
|
NM_032578.4(MYPN):c.281C>G (p.Thr94Ser)
|
rs377389861
|
0.00002
|
|
NM_032578.4(MYPN):c.2869A>G (p.Thr957Ala)
|
rs778178863
|
0.00002
|
|
NM_032578.4(MYPN):c.3105G>A (p.Met1035Ile)
|
rs764549639
|
0.00002
|
|
NM_032578.4(MYPN):c.3130C>T (p.Arg1044Trp)
|
rs565591812
|
0.00002
|
|
NM_032578.4(MYPN):c.3131G>A (p.Arg1044Gln)
|
rs142874859
|
0.00002
|
|
NM_032578.4(MYPN):c.3350C>T (p.Ala1117Val)
|
rs762950668
|
0.00002
|
|
NM_032578.4(MYPN):c.3394C>T (p.Leu1132Phe)
|
rs753388438
|
0.00002
|
|
NM_032578.4(MYPN):c.3485C>G (p.Ser1162Cys)
|
rs548754907
|
0.00002
|
|
NM_032578.4(MYPN):c.3628G>A (p.Glu1210Lys)
|
rs779000111
|
0.00002
|
|
NM_032578.4(MYPN):c.3832C>T (p.Arg1278Trp)
|
rs763054747
|
0.00002
|
|
NM_032578.4(MYPN):c.3911C>T (p.Thr1304Met)
|
rs749719592
|
0.00002
|
|
NM_032578.4(MYPN):c.458A>G (p.Lys153Arg)
|
rs199476401
|
0.00002
|
|
NM_032578.4(MYPN):c.526C>T (p.Arg176Cys)
|
rs773154410
|
0.00002
|
|
NM_032578.4(MYPN):c.641C>T (p.Pro214Leu)
|
rs1406498336
|
0.00002
|
|
NM_032578.4(MYPN):c.748A>C (p.Thr250Pro)
|
rs770824805
|
0.00002
|
|
NM_032578.4(MYPN):c.986C>T (p.Ala329Val)
|
rs146148277
|
0.00002
|
|
NM_033118.4(MYLK2):c.1022A>G (p.Asn341Ser)
|
rs776210812
|
0.00002
|
|
NM_033118.4(MYLK2):c.1265T>C (p.Val422Ala)
|
rs878855173
|
0.00002
|
|
NM_033118.4(MYLK2):c.1480G>A (p.Val494Ile)
|
rs768264478
|
0.00002
|
|
NM_033118.4(MYLK2):c.1606G>A (p.Ala536Thr)
|
rs749619576
|
0.00002
|
|
NM_033118.4(MYLK2):c.226C>T (p.Pro76Ser)
|
rs199791180
|
0.00002
|
|
NM_033118.4(MYLK2):c.250G>A (p.Gly84Arg)
|
rs567882762
|
0.00002
|
|
NM_033118.4(MYLK2):c.305C>T (p.Ala102Val)
|
rs763316056
|
0.00002
|
|
NM_033118.4(MYLK2):c.373A>G (p.Lys125Glu)
|
rs774114072
|
0.00002
|
|
NM_033118.4(MYLK2):c.792G>A (p.Pro264=)
|
rs752288788
|
0.00002
|
|
NM_033118.4(MYLK2):c.885G>C (p.Lys295Asn)
|
rs749224761
|
0.00002
|
|
NM_144573.4(NEXN):c.1046G>C (p.Arg349Thr)
|
rs898035834
|
0.00002
|
|
NM_144573.4(NEXN):c.1615C>T (p.Arg539Cys)
|
rs373680705
|
0.00002
|
|
NM_144573.4(NEXN):c.1A>C (p.Met1Leu)
|
rs749167943
|
0.00002
|
|
NM_144573.4(NEXN):c.2021A>C (p.Lys674Thr)
|
rs886046535
|
0.00002
|
|
NM_144573.4(NEXN):c.783C>G (p.Asn261Lys)
|
rs368545006
|
0.00002
|
|
NM_144573.4(NEXN):c.871G>A (p.Glu291Lys)
|
rs770120245
|
0.00002
|
|
NM_144573.4(NEXN):c.874G>A (p.Asp292Asn)
|
rs373377525
|
0.00002
|
|
NM_145046.5(CALR3):c.1129C>G (p.Gln377Glu)
|
rs372514243
|
0.00002
|
|
NM_145046.5(CALR3):c.500G>A (p.Gly167Asp)
|
rs746917889
|
0.00002
|
|
NM_145046.5(CALR3):c.832C>T (p.Arg278Cys)
|
rs543953490
|
0.00002
|
|
NM_145046.5(CALR3):c.92-7C>G
|
rs377099405
|
0.00002
|
|
NM_152594.3(SPRED1):c.1000C>T (p.Arg334Cys)
|
rs765603808
|
0.00002
|
|
NM_152594.3(SPRED1):c.1282C>T (p.Arg428Cys)
|
rs941091989
|
0.00002
|
|
NM_152594.3(SPRED1):c.182G>A (p.Arg61His)
|
rs750686148
|
0.00002
|
|
NM_152594.3(SPRED1):c.610A>G (p.Ile204Val)
|
rs758087535
|
0.00002
|
|
NM_152594.3(SPRED1):c.875A>G (p.Tyr292Cys)
|
rs201933663
|
0.00002
|
|
NM_152594.3(SPRED1):c.887G>A (p.Cys296Tyr)
|
rs200974459
|
0.00002
|
|
NM_181703.4(GJA5):c.1016G>A (p.Ser339Asn)
|
rs782195867
|
0.00002
|
|
NM_181703.4(GJA5):c.325C>T (p.Arg109Trp)
|
rs782392307
|
0.00002
|
|
NM_181703.4(GJA5):c.358T>C (p.Ser120Pro)
|
rs782642890
|
0.00002
|
|
NM_181703.4(GJA5):c.370G>C (p.Glu124Gln)
|
rs782428701
|
0.00002
|
|
NM_181703.4(GJA5):c.413A>C (p.Glu138Ala)
|
rs782730854
|
0.00002
|
|
NM_181703.4(GJA5):c.496G>A (p.Gly166Ser)
|
rs782065420
|
0.00002
|
|
NM_181703.4(GJA5):c.787C>T (p.Pro263Ser)
|
rs781852108
|
0.00002
|
|
NM_181703.4(GJA5):c.994C>T (p.Arg332Cys)
|
rs782175029
|
0.00002
|
|
NM_182914.3(SYNE2):c.10036G>A (p.Ala3346Thr)
|
rs536877053
|
0.00002
|
|
NM_182914.3(SYNE2):c.10163C>T (p.Ser3388Leu)
|
rs759908590
|
0.00002
|
|
NM_182914.3(SYNE2):c.10597C>G (p.Gln3533Glu)
|
rs200040718
|
0.00002
|
|
NM_182914.3(SYNE2):c.10776A>G (p.Ile3592Met)
|
rs373340663
|
0.00002
|
|
NM_182914.3(SYNE2):c.10970T>C (p.Ile3657Thr)
|
rs765755231
|
0.00002
|
|
NM_182914.3(SYNE2):c.11030A>G (p.Asn3677Ser)
|
rs1044882220
|
0.00002
|
|
NM_182914.3(SYNE2):c.1105G>A (p.Ala369Thr)
|
rs746878775
|
0.00002
|
|
NM_182914.3(SYNE2):c.1106C>T (p.Ala369Val)
|
rs550699600
|
0.00002
|
|
NM_182914.3(SYNE2):c.11090A>G (p.Asn3697Ser)
|
rs771556616
|
0.00002
|
|
NM_182914.3(SYNE2):c.11282T>A (p.Ile3761Asn)
|
rs767934367
|
0.00002
|
|
NM_182914.3(SYNE2):c.11930T>C (p.Ile3977Thr)
|
rs1459437577
|
0.00002
|
|
NM_182914.3(SYNE2):c.1195C>A (p.Leu399Ile)
|
rs751800008
|
0.00002
|
|
NM_182914.3(SYNE2):c.11G>A (p.Ser4Asn)
|
rs750823503
|
0.00002
|
|
NM_182914.3(SYNE2):c.12108+3A>G
|
rs751551602
|
0.00002
|
|
NM_182914.3(SYNE2):c.12194T>C (p.Leu4065Pro)
|
rs780016521
|
0.00002
|
|
NM_182914.3(SYNE2):c.12227A>G (p.Glu4076Gly)
|
rs556962500
|
0.00002
|
|
NM_182914.3(SYNE2):c.1238C>T (p.Ser413Phe)
|
rs777663838
|
0.00002
|
|
NM_182914.3(SYNE2):c.12608A>T (p.Glu4203Val)
|
rs949678604
|
0.00002
|
|
NM_182914.3(SYNE2):c.12695C>T (p.Pro4232Leu)
|
rs139959852
|
0.00002
|
|
NM_182914.3(SYNE2):c.12941C>T (p.Ala4314Val)
|
rs769993001
|
0.00002
|
|
NM_182914.3(SYNE2):c.13159-3C>T
|
rs1277619996
|
0.00002
|
|
NM_182914.3(SYNE2):c.13241G>A (p.Cys4414Tyr)
|
rs1020799360
|
0.00002
|
|
NM_182914.3(SYNE2):c.13707+6G>A
|
rs776316108
|
0.00002
|
|
NM_182914.3(SYNE2):c.13897G>A (p.Asp4633Asn)
|
rs751862856
|
0.00002
|
|
NM_182914.3(SYNE2):c.14053G>A (p.Ala4685Thr)
|
rs779457100
|
0.00002
|
|
NM_182914.3(SYNE2):c.14203G>A (p.Val4735Ile)
|
rs538224852
|
0.00002
|
|
NM_182914.3(SYNE2):c.14207C>T (p.Thr4736Ile)
|
rs141148067
|
0.00002
|
|
NM_182914.3(SYNE2):c.14229G>T (p.Leu4743Phe)
|
rs772739903
|
0.00002
|
|
NM_182914.3(SYNE2):c.14312C>T (p.Ala4771Val)
|
rs573850693
|
0.00002
|
|
NM_182914.3(SYNE2):c.14614G>A (p.Glu4872Lys)
|
rs140203936
|
0.00002
|
|
NM_182914.3(SYNE2):c.14791A>G (p.Lys4931Glu)
|
rs145031656
|
0.00002
|
|
NM_182914.3(SYNE2):c.15058G>C (p.Glu5020Gln)
|
rs747472621
|
0.00002
|
|
NM_182914.3(SYNE2):c.15159+1G>T
|
rs778511275
|
0.00002
|
|
NM_182914.3(SYNE2):c.15457C>T (p.Arg5153Cys)
|
rs770267414
|
0.00002
|
|
NM_182914.3(SYNE2):c.15464A>G (p.His5155Arg)
|
rs112886641
|
0.00002
|
|
NM_182914.3(SYNE2):c.15865G>A (p.Val5289Met)
|
rs181059522
|
0.00002
|
|
NM_182914.3(SYNE2):c.16094G>A (p.Arg5365Lys)
|
rs1007733286
|
0.00002
|
|
NM_182914.3(SYNE2):c.16246A>C (p.Met5416Leu)
|
rs772402331
|
0.00002
|
|
NM_182914.3(SYNE2):c.16304T>G (p.Leu5435Arg)
|
rs750900424
|
0.00002
|
|
NM_182914.3(SYNE2):c.16760+6A>G
|
rs756707482
|
0.00002
|
|
NM_182914.3(SYNE2):c.16901A>G (p.Tyr5634Cys)
|
rs747214483
|
0.00002
|
|
NM_182914.3(SYNE2):c.17049T>G (p.Asn5683Lys)
|
rs1163559639
|
0.00002
|
|
NM_182914.3(SYNE2):c.17191C>T (p.Arg5731Cys)
|
rs376008959
|
0.00002
|
|
NM_182914.3(SYNE2):c.17443T>C (p.Cys5815Arg)
|
rs765907856
|
0.00002
|
|
NM_182914.3(SYNE2):c.17635G>A (p.Val5879Ile)
|
rs555731479
|
0.00002
|
|
NM_182914.3(SYNE2):c.18163G>A (p.Asp6055Asn)
|
rs543875232
|
0.00002
|
|
NM_182914.3(SYNE2):c.18180G>C (p.Gln6060His)
|
rs771893487
|
0.00002
|
|
NM_182914.3(SYNE2):c.18385A>G (p.Met6129Val)
|
rs766731181
|
0.00002
|
|
NM_182914.3(SYNE2):c.18851G>A (p.Arg6284His)
|
rs202157687
|
0.00002
|
|
NM_182914.3(SYNE2):c.19141C>T (p.Arg6381Trp)
|
rs372959292
|
0.00002
|
|
NM_182914.3(SYNE2):c.19502C>G (p.Pro6501Arg)
|
rs763965173
|
0.00002
|
|
NM_182914.3(SYNE2):c.19807G>A (p.Ala6603Thr)
|
rs143077670
|
0.00002
|
|
NM_182914.3(SYNE2):c.20215C>T (p.Arg6739Cys)
|
rs142809757
|
0.00002
|
|
NM_182914.3(SYNE2):c.20288T>C (p.Ile6763Thr)
|
rs758317659
|
0.00002
|
|
NM_182914.3(SYNE2):c.20543G>A (p.Arg6848His)
|
rs759174521
|
0.00002
|
|
NM_182914.3(SYNE2):c.237+6A>G
|
rs766604570
|
0.00002
|
|
NM_182914.3(SYNE2):c.241C>T (p.Arg81Trp)
|
rs964727357
|
0.00002
|
|
NM_182914.3(SYNE2):c.2744T>C (p.Leu915Ser)
|
rs376041943
|
0.00002
|
|
NM_182914.3(SYNE2):c.332T>C (p.Ile111Thr)
|
rs771063078
|
0.00002
|
|
NM_182914.3(SYNE2):c.3368G>A (p.Arg1123Lys)
|
rs748431472
|
0.00002
|
|
NM_182914.3(SYNE2):c.3505C>T (p.Arg1169Cys)
|
rs574167855
|
0.00002
|
|
NM_182914.3(SYNE2):c.3567G>T (p.Lys1189Asn)
|
rs776221033
|
0.00002
|
|
NM_182914.3(SYNE2):c.3804A>G (p.Ile1268Met)
|
rs753563194
|
0.00002
|
|
NM_182914.3(SYNE2):c.3823T>C (p.Cys1275Arg)
|
rs2096765246
|
0.00002
|
|
NM_182914.3(SYNE2):c.4013C>T (p.Ser1338Phe)
|
rs1226719188
|
0.00002
|
|
NM_182914.3(SYNE2):c.4024G>A (p.Val1342Ile)
|
rs747274988
|
0.00002
|
|
NM_182914.3(SYNE2):c.4332A>G (p.Gln1444=)
|
rs753910622
|
0.00002
|
|
NM_182914.3(SYNE2):c.4394A>G (p.His1465Arg)
|
rs537177665
|
0.00002
|
|
NM_182914.3(SYNE2):c.4846T>C (p.Phe1616Leu)
|
rs764521226
|
0.00002
|
|
NM_182914.3(SYNE2):c.4931C>T (p.Ala1644Val)
|
rs771776215
|
0.00002
|
|
NM_182914.3(SYNE2):c.4972A>G (p.Ile1658Val)
|
rs1202099367
|
0.00002
|
|
NM_182914.3(SYNE2):c.5015A>T (p.His1672Leu)
|
rs927045912
|
0.00002
|
|
NM_182914.3(SYNE2):c.6164A>G (p.His2055Arg)
|
rs368032214
|
0.00002
|
|
NM_182914.3(SYNE2):c.6398A>T (p.Tyr2133Phe)
|
rs1307365295
|
0.00002
|
|
NM_182914.3(SYNE2):c.660T>G (p.Ile220Met)
|
rs375642734
|
0.00002
|
|
NM_182914.3(SYNE2):c.6746G>A (p.Arg2249Gln)
|
rs764036360
|
0.00002
|
|
NM_182914.3(SYNE2):c.7321A>G (p.Asn2441Asp)
|
rs754057512
|
0.00002
|
|
NM_182914.3(SYNE2):c.7541A>T (p.Asn2514Ile)
|
rs771061486
|
0.00002
|
|
NM_182914.3(SYNE2):c.7727A>T (p.Asn2576Ile)
|
rs754276862
|
0.00002
|
|
NM_182914.3(SYNE2):c.8329G>A (p.Ala2777Thr)
|
rs187045714
|
0.00002
|
|
NM_182914.3(SYNE2):c.8386C>T (p.Leu2796Phe)
|
rs200570324
|
0.00002
|
|
NM_182914.3(SYNE2):c.8472A>G (p.Gln2824=)
|
rs888692979
|
0.00002
|
|
NM_182914.3(SYNE2):c.8547G>T (p.Met2849Ile)
|
rs755461661
|
0.00002
|
|
NM_182914.3(SYNE2):c.8558G>A (p.Ser2853Asn)
|
rs763671728
|
0.00002
|
|
NM_182914.3(SYNE2):c.8729G>A (p.Arg2910Lys)
|
rs367802102
|
0.00002
|
|
NM_182914.3(SYNE2):c.892A>C (p.Lys298Gln)
|
rs866911879
|
0.00002
|
|
NM_182914.3(SYNE2):c.9692G>A (p.Arg3231His)
|
rs773533722
|
0.00002
|
|
NM_182961.4(SYNE1):c.10039G>A (p.Val3347Ile)
|
rs762448899
|
0.00002
|
|
NM_182961.4(SYNE1):c.10070C>T (p.Pro3357Leu)
|
rs748499952
|
0.00002
|
|
NM_182961.4(SYNE1):c.1016T>C (p.Met339Thr)
|
rs1489130675
|
0.00002
|
|
NM_182961.4(SYNE1):c.10474C>T (p.Arg3492Cys)
|
rs531503159
|
0.00002
|
|
NM_182961.4(SYNE1):c.10568G>A (p.Gly3523Asp)
|
rs766218121
|
0.00002
|
|
NM_182961.4(SYNE1):c.10624T>C (p.Cys3542Arg)
|
rs751032216
|
0.00002
|
|
NM_182961.4(SYNE1):c.10762G>A (p.Glu3588Lys)
|
rs371209532
|
0.00002
|
|
NM_182961.4(SYNE1):c.11086C>G (p.Gln3696Glu)
|
rs377095831
|
0.00002
|
|
NM_182961.4(SYNE1):c.1126G>A (p.Gly376Ser)
|
rs757408388
|
0.00002
|
|
NM_182961.4(SYNE1):c.11381T>A (p.Met3794Lys)
|
rs143519691
|
0.00002
|
|
NM_182961.4(SYNE1):c.11609A>G (p.Glu3870Gly)
|
rs771572017
|
0.00002
|
|
NM_182961.4(SYNE1):c.11692C>A (p.Gln3898Lys)
|
rs768435800
|
0.00002
|
|
NM_182961.4(SYNE1):c.11711A>G (p.Gln3904Arg)
|
rs771294384
|
0.00002
|
|
NM_182961.4(SYNE1):c.11962G>A (p.Asp3988Asn)
|
rs148782440
|
0.00002
|
|
NM_182961.4(SYNE1):c.12035G>A (p.Gly4012Asp)
|
rs745342797
|
0.00002
|
|
NM_182961.4(SYNE1):c.12323C>T (p.Ala4108Val)
|
rs560488372
|
0.00002
|
|
NM_182961.4(SYNE1):c.12658G>A (p.Asp4220Asn)
|
rs201449723
|
0.00002
|
|
NM_182961.4(SYNE1):c.12704A>G (p.Asp4235Gly)
|
rs964082904
|
0.00002
|
|
NM_182961.4(SYNE1):c.13105G>A (p.Glu4369Lys)
|
rs777182389
|
0.00002
|
|
NM_182961.4(SYNE1):c.13181T>G (p.Leu4394Arg)
|
rs763501028
|
0.00002
|
|
NM_182961.4(SYNE1):c.13222G>A (p.Ala4408Thr)
|
rs368709678
|
0.00002
|
|
NM_182961.4(SYNE1):c.13A>G (p.Arg5Gly)
|
rs777385898
|
0.00002
|
|
NM_182961.4(SYNE1):c.14116G>A (p.Val4706Ile)
|
rs374596074
|
0.00002
|
|
NM_182961.4(SYNE1):c.14335G>T (p.Ala4779Ser)
|
rs368490158
|
0.00002
|
|
NM_182961.4(SYNE1):c.14458T>A (p.Ser4820Thr)
|
rs999907923
|
0.00002
|
|
NM_182961.4(SYNE1):c.14513A>G (p.His4838Arg)
|
rs577675508
|
0.00002
|
|
NM_182961.4(SYNE1):c.14577G>C (p.Gln4859His)
|
rs369433602
|
0.00002
|
|
NM_182961.4(SYNE1):c.14945G>A (p.Arg4982His)
|
rs754495941
|
0.00002
|
|
NM_182961.4(SYNE1):c.14951G>C (p.Arg4984Thr)
|
rs762212036
|
0.00002
|
|
NM_182961.4(SYNE1):c.1502T>C (p.Met501Thr)
|
rs202149617
|
0.00002
|
|
NM_182961.4(SYNE1):c.15053T>A (p.Leu5018Gln)
|
rs772978925
|
0.00002
|
|
NM_182961.4(SYNE1):c.15222A>C (p.Lys5074Asn)
|
rs780677467
|
0.00002
|
|
NM_182961.4(SYNE1):c.15882G>T (p.Met5294Ile)
|
rs770022371
|
0.00002
|
|
NM_182961.4(SYNE1):c.16288C>T (p.Leu5430Phe)
|
rs377227289
|
0.00002
|
|
NM_182961.4(SYNE1):c.16371A>C (p.Gln5457His)
|
rs370002959
|
0.00002
|
|
NM_182961.4(SYNE1):c.16553G>A (p.Arg5518Gln)
|
rs150604289
|
0.00002
|
|
NM_182961.4(SYNE1):c.16726T>C (p.Ser5576Pro)
|
rs373436725
|
0.00002
|
|
NM_182961.4(SYNE1):c.17014C>T (p.Arg5672Trp)
|
rs780794124
|
0.00002
|
|
NM_182961.4(SYNE1):c.17071C>T (p.Leu5691Phe)
|
rs767705064
|
0.00002
|
|
NM_182961.4(SYNE1):c.17174C>A (p.Thr5725Asn)
|
rs751747080
|
0.00002
|
|
NM_182961.4(SYNE1):c.17255A>G (p.Gln5752Arg)
|
rs201146113
|
0.00002
|
|
NM_182961.4(SYNE1):c.17274C>A (p.His5758Gln)
|
rs147858920
|
0.00002
|
|
NM_182961.4(SYNE1):c.17389T>C (p.Ser5797Pro)
|
rs753335678
|
0.00002
|
|
NM_182961.4(SYNE1):c.17866C>T (p.Arg5956Cys)
|
rs558631055
|
0.00002
|
|
NM_182961.4(SYNE1):c.18080A>T (p.Glu6027Val)
|
rs780920250
|
0.00002
|
|
NM_182961.4(SYNE1):c.1849C>T (p.Arg617Cys)
|
rs980349048
|
0.00002
|
|
NM_182961.4(SYNE1):c.18620C>T (p.Thr6207Met)
|
rs373188583
|
0.00002
|
|
NM_182961.4(SYNE1):c.18634G>A (p.Val6212Ile)
|
rs138258566
|
0.00002
|
|
NM_182961.4(SYNE1):c.18972+4T>C
|
rs774096623
|
0.00002
|
|
NM_182961.4(SYNE1):c.19136T>C (p.Leu6379Ser)
|
rs777882357
|
0.00002
|
|
NM_182961.4(SYNE1):c.19276A>C (p.Ile6426Leu)
|
rs773315032
|
0.00002
|
|
NM_182961.4(SYNE1):c.20741A>C (p.His6914Pro)
|
rs773155844
|
0.00002
|
|
NM_182961.4(SYNE1):c.21271A>C (p.Asn7091His)
|
rs777618601
|
0.00002
|
|
NM_182961.4(SYNE1):c.21273C>A (p.Asn7091Lys)
|
rs772396355
|
0.00002
|
|
NM_182961.4(SYNE1):c.21351+6A>G
|
rs760934207
|
0.00002
|
|
NM_182961.4(SYNE1):c.21511G>A (p.Asp7171Asn)
|
rs1488536575
|
0.00002
|
|
NM_182961.4(SYNE1):c.22162A>G (p.Thr7388Ala)
|
rs1386701721
|
0.00002
|
|
NM_182961.4(SYNE1):c.22497G>C (p.Leu7499Phe)
|
rs886061196
|
0.00002
|
|
NM_182961.4(SYNE1):c.22558C>T (p.Arg7520Cys)
|
rs755621860
|
0.00002
|
|
NM_182961.4(SYNE1):c.22840T>A (p.Phe7614Ile)
|
rs138581943
|
0.00002
|
|
NM_182961.4(SYNE1):c.22978C>T (p.Arg7660Trp)
|
rs202017153
|
0.00002
|
|
NM_182961.4(SYNE1):c.22979G>A (p.Arg7660Gln)
|
rs1461427417
|
0.00002
|
|
NM_182961.4(SYNE1):c.23102C>T (p.Pro7701Leu)
|
rs780201995
|
0.00002
|
|
NM_182961.4(SYNE1):c.23240T>A (p.Ile7747Asn)
|
rs1435183530
|
0.00002
|
|
NM_182961.4(SYNE1):c.23314C>T (p.Arg7772Trp)
|
rs373935459
|
0.00002
|
|
NM_182961.4(SYNE1):c.23590G>A (p.Asp7864Asn)
|
rs760076679
|
0.00002
|
|
NM_182961.4(SYNE1):c.23707C>T (p.His7903Tyr)
|
rs886042801
|
0.00002
|
|
NM_182961.4(SYNE1):c.23737G>A (p.Val7913Ile)
|
rs528535664
|
0.00002
|
|
NM_182961.4(SYNE1):c.2394+3G>A
|
rs368012666
|
0.00002
|
|
NM_182961.4(SYNE1):c.2394+4C>T
|
rs749262350
|
0.00002
|
|
NM_182961.4(SYNE1):c.24242T>C (p.Met8081Thr)
|
rs750841362
|
0.00002
|
|
NM_182961.4(SYNE1):c.242G>A (p.Arg81His)
|
rs761189574
|
0.00002
|
|
NM_182961.4(SYNE1):c.24354C>G (p.Asp8118Glu)
|
rs149940427
|
0.00002
|
|
NM_182961.4(SYNE1):c.24496A>G (p.Ile8166Val)
|
rs773060979
|
0.00002
|
|
NM_182961.4(SYNE1):c.24556G>A (p.Glu8186Lys)
|
rs200752692
|
0.00002
|
|
NM_182961.4(SYNE1):c.24569A>C (p.Asp8190Ala)
|
rs754128595
|
0.00002
|
|
NM_182961.4(SYNE1):c.24605G>A (p.Arg8202His)
|
rs376102438
|
0.00002
|
|
NM_182961.4(SYNE1):c.24724G>A (p.Asp8242Asn)
|
rs751624606
|
0.00002
|
|
NM_182961.4(SYNE1):c.24955C>T (p.Arg8319Trp)
|
rs201109440
|
0.00002
|
|
NM_182961.4(SYNE1):c.24991C>G (p.Leu8331Val)
|
rs776807564
|
0.00002
|
|
NM_182961.4(SYNE1):c.25046T>C (p.Ile8349Thr)
|
rs927451522
|
0.00002
|
|
NM_182961.4(SYNE1):c.25119+3A>G
|
rs1057521423
|
0.00002
|
|
NM_182961.4(SYNE1):c.25223A>G (p.His8408Arg)
|
rs375476506
|
0.00002
|
|
NM_182961.4(SYNE1):c.2530G>A (p.Glu844Lys)
|
rs770166877
|
0.00002
|
|
NM_182961.4(SYNE1):c.2543G>C (p.Ser848Thr)
|
rs770713708
|
0.00002
|
|
NM_182961.4(SYNE1):c.25460A>T (p.Glu8487Val)
|
rs775455354
|
0.00002
|
|
NM_182961.4(SYNE1):c.26213del (p.Arg8738fs)
|
rs774317818
|
0.00002
|
|
NM_182961.4(SYNE1):c.26278G>A (p.Gly8760Arg)
|
rs758464869
|
0.00002
|
|
NM_182961.4(SYNE1):c.2731A>G (p.Met911Val)
|
rs1310685451
|
0.00002
|
|
NM_182961.4(SYNE1):c.275T>C (p.Ile92Thr)
|
rs1007703591
|
0.00002
|
|
NM_182961.4(SYNE1):c.2T>C (p.Met1Thr)
|
rs769726483
|
0.00002
|
|
NM_182961.4(SYNE1):c.3736G>A (p.Glu1246Lys)
|
rs138915528
|
0.00002
|
|
NM_182961.4(SYNE1):c.4032A>G (p.Arg1344=)
|
rs762887399
|
0.00002
|
|
NM_182961.4(SYNE1):c.4487A>G (p.Lys1496Arg)
|
rs146300279
|
0.00002
|
|
NM_182961.4(SYNE1):c.4668G>C (p.Lys1556Asn)
|
rs774194598
|
0.00002
|
|
NM_182961.4(SYNE1):c.5018G>A (p.Arg1673Gln)
|
rs749115727
|
0.00002
|
|
NM_182961.4(SYNE1):c.5710T>A (p.Leu1904Met)
|
rs372724272
|
0.00002
|
|
NM_182961.4(SYNE1):c.5780A>G (p.Asp1927Gly)
|
rs144732736
|
0.00002
|
|
NM_182961.4(SYNE1):c.5872G>A (p.Glu1958Lys)
|
rs1563856215
|
0.00002
|
|
NM_182961.4(SYNE1):c.6117A>C (p.Lys2039Asn)
|
rs1449605743
|
0.00002
|
|
NM_182961.4(SYNE1):c.6136G>T (p.Ala2046Ser)
|
rs200432574
|
0.00002
|
|
NM_182961.4(SYNE1):c.6281T>A (p.Leu2094Gln)
|
rs201747340
|
0.00002
|
|
NM_182961.4(SYNE1):c.6319A>G (p.Ser2107Gly)
|
rs368938119
|
0.00002
|
|
NM_182961.4(SYNE1):c.6431A>G (p.Asn2144Ser)
|
rs28447480
|
0.00002
|
|
NM_182961.4(SYNE1):c.6550A>G (p.Lys2184Glu)
|
rs765343767
|
0.00002
|
|
NM_182961.4(SYNE1):c.68A>G (p.Asp23Gly)
|
rs370851746
|
0.00002
|
|
NM_182961.4(SYNE1):c.7103G>A (p.Arg2368His)
|
rs755821648
|
0.00002
|
|
NM_182961.4(SYNE1):c.7174G>A (p.Val2392Met)
|
rs146099481
|
0.00002
|
|
NM_182961.4(SYNE1):c.7279G>A (p.Ala2427Thr)
|
rs763152677
|
0.00002
|
|
NM_182961.4(SYNE1):c.7303C>T (p.Arg2435Cys)
|
rs370082646
|
0.00002
|
|
NM_182961.4(SYNE1):c.7340A>G (p.His2447Arg)
|
rs527670014
|
0.00002
|
|
NM_182961.4(SYNE1):c.7444G>A (p.Val2482Ile)
|
rs375687383
|
0.00002
|
|
NM_182961.4(SYNE1):c.7610G>A (p.Arg2537Lys)
|
rs762448241
|
0.00002
|
|
NM_182961.4(SYNE1):c.7768G>A (p.Gly2590Ser)
|
rs367840064
|
0.00002
|
|
NM_182961.4(SYNE1):c.7988G>T (p.Arg2663Leu)
|
rs370644295
|
0.00002
|
|
NM_182961.4(SYNE1):c.8335A>G (p.Ile2779Val)
|
rs746384150
|
0.00002
|
|
NM_182961.4(SYNE1):c.8392A>G (p.Arg2798Gly)
|
rs886044262
|
0.00002
|
|
NM_182961.4(SYNE1):c.8468A>G (p.Asp2823Gly)
|
rs545685387
|
0.00002
|
|
NM_182961.4(SYNE1):c.860A>G (p.Asn287Ser)
|
rs781096163
|
0.00002
|
|
NM_182961.4(SYNE1):c.8705C>T (p.Ser2902Leu)
|
rs576979843
|
0.00002
|
|
NM_182961.4(SYNE1):c.8861C>T (p.Ser2954Leu)
|
rs145819043
|
0.00002
|
|
NM_182961.4(SYNE1):c.9779A>G (p.Gln3260Arg)
|
rs555197359
|
0.00002
|
|
NM_182961.4(SYNE1):c.9788C>T (p.Ala3263Val)
|
rs780460827
|
0.00002
|
|
NM_182961.4(SYNE1):c.9835G>A (p.Val3279Ile)
|
rs762807112
|
0.00002
|
|
NM_182961.4(SYNE1):c.9847A>C (p.Asn3283His)
|
rs745707616
|
0.00002
|
|
NM_182961.4(SYNE1):c.9953G>A (p.Ser3318Asn)
|
rs746689638
|
0.00002
|
|
NM_000018.4(ACADVL):c.100G>A (p.Gly34Ser)
|
rs781061205
|
0.00001
|
|
NM_000018.4(ACADVL):c.1013A>G (p.Asn338Ser)
|
rs956279629
|
0.00001
|
|
NM_000018.4(ACADVL):c.1037C>T (p.Ala346Val)
|
rs1303150138
|
0.00001
|
|
NM_000018.4(ACADVL):c.1045G>A (p.Ala349Thr)
|
rs1567565733
|
0.00001
|
|
NM_000018.4(ACADVL):c.1052C>A (p.Thr351Asn)
|
rs796051911
|
0.00001
|
|
NM_000018.4(ACADVL):c.1063A>G (p.Ile355Val)
|
rs2071297089
|
0.00001
|
|
NM_000018.4(ACADVL):c.1067T>C (p.Ile356Thr)
|
rs2071297392
|
0.00001
|
|
NM_000018.4(ACADVL):c.1079T>C (p.Val360Ala)
|
rs1284063777
|
0.00001
|
|
NM_000018.4(ACADVL):c.1133T>C (p.Leu378Pro)
|
rs2071314177
|
0.00001
|
|
NM_000018.4(ACADVL):c.1159G>A (p.Val387Ile)
|
rs1422904205
|
0.00001
|
|
NM_000018.4(ACADVL):c.1182+3G>T
|
rs376281637
|
0.00001
|
|
NM_000018.4(ACADVL):c.1217A>C (p.Gln406Pro)
|
rs1384021857
|
0.00001
|
|
NM_000018.4(ACADVL):c.1269G>A (p.Ser423=)
|
rs765356942
|
0.00001
|
|
NM_000018.4(ACADVL):c.130G>A (p.Ala44Thr)
|
rs573810960
|
0.00001
|
|
NM_000018.4(ACADVL):c.1345G>C (p.Glu449Gln)
|
rs398123081
|
0.00001
|
|
NM_000018.4(ACADVL):c.134C>T (p.Ala45Val)
|
rs2071124062
|
0.00001
|
|
NM_000018.4(ACADVL):c.1360G>A (p.Asp454Asn)
|
rs1419606204
|
0.00001
|
|
NM_000018.4(ACADVL):c.1388G>A (p.Gly463Glu)
|
rs200366828
|
0.00001
|
|
NM_000018.4(ACADVL):c.1399A>G (p.Ile467Val)
|
rs755685700
|
0.00001
|
|
NM_000018.4(ACADVL):c.1524G>C (p.Gln508His)
|
rs749332311
|
0.00001
|
|
NM_000018.4(ACADVL):c.1533-3C>A
|
rs1486836969
|
0.00001
|
|
NM_000018.4(ACADVL):c.1534C>T (p.Arg512Trp)
|
rs371316167
|
0.00001
|
|
NM_000018.4(ACADVL):c.1535G>A (p.Arg512Gln)
|
rs1363658463
|
0.00001
|
|
NM_000018.4(ACADVL):c.1552G>A (p.Gly518Ser)
|
rs374507980
|
0.00001
|
|
NM_000018.4(ACADVL):c.1595G>A (p.Ser532Asn)
|
rs1453818885
|
0.00001
|
|
NM_000018.4(ACADVL):c.1605+3A>G
|
rs759274087
|
0.00001
|
|
NM_000018.4(ACADVL):c.1612C>T (p.Arg538Trp)
|
rs192904909
|
0.00001
|
|
NM_000018.4(ACADVL):c.1621G>A (p.Glu541Lys)
|
rs1350421513
|
0.00001
|
|
NM_000018.4(ACADVL):c.1664A>G (p.Lys555Arg)
|
rs1231882461
|
0.00001
|
|
NM_000018.4(ACADVL):c.1670G>A (p.Gly557Glu)
|
rs773842959
|
0.00001
|
|
NM_000018.4(ACADVL):c.1678+4A>T
|
rs1057518417
|
0.00001
|
|
NM_000018.4(ACADVL):c.1684C>G (p.Gln562Glu)
|
rs370292684
|
0.00001
|
|
NM_000018.4(ACADVL):c.179T>G (p.Leu60Arg)
|
rs1405660468
|
0.00001
|
|
NM_000018.4(ACADVL):c.1825G>A (p.Glu609Lys)
|
rs398123086
|
0.00001
|
|
NM_000018.4(ACADVL):c.1829C>T (p.Ala610Val)
|
rs1179668719
|
0.00001
|
|
NM_000018.4(ACADVL):c.1913C>T (p.Ser638Phe)
|
rs1210477732
|
0.00001
|
|
NM_000018.4(ACADVL):c.1929G>C (p.Glu643Asp)
|
rs1208010882
|
0.00001
|
|
NM_000018.4(ACADVL):c.1964T>A (p.Phe655Tyr)
|
rs377659973
|
0.00001
|
|
NM_000018.4(ACADVL):c.204+4G>C
|
rs764767909
|
0.00001
|
|
NM_000018.4(ACADVL):c.301T>C (p.Phe101Leu)
|
rs759197049
|
0.00001
|
|
NM_000018.4(ACADVL):c.322C>G (p.Pro108Ala)
|
rs886043235
|
0.00001
|
|
NM_000018.4(ACADVL):c.331C>T (p.Arg111Cys)
|
rs370929055
|
0.00001
|
|
NM_000018.4(ACADVL):c.332G>A (p.Arg111His)
|
rs958166043
|
0.00001
|
|
NM_000018.4(ACADVL):c.34C>T (p.Arg12Trp)
|
rs769290349
|
0.00001
|
|
NM_000018.4(ACADVL):c.381G>A (p.Met127Ile)
|
rs773608087
|
0.00001
|
|
NM_000018.4(ACADVL):c.385G>A (p.Glu129Lys)
|
rs1402849815
|
0.00001
|
|
NM_000018.4(ACADVL):c.427G>T (p.Gly143Cys)
|
rs794727773
|
0.00001
|
|
NM_000018.4(ACADVL):c.476A>G (p.Gln159Arg)
|
rs746688190
|
0.00001
|
|
NM_000018.4(ACADVL):c.484C>T (p.Arg162Cys)
|
rs751423064
|
0.00001
|
|
NM_000018.4(ACADVL):c.490G>C (p.Val164Leu)
|
rs1240846419
|
0.00001
|
|
NM_000018.4(ACADVL):c.505A>G (p.Met169Val)
|
rs2071227343
|
0.00001
|
|
NM_000018.4(ACADVL):c.613C>G (p.Leu205Val)
|
rs747347662
|
0.00001
|
|
NM_000018.4(ACADVL):c.622G>A (p.Gly208Arg)
|
rs748329498
|
0.00001
|
|
NM_000018.4(ACADVL):c.628A>C (p.Thr210Pro)
|
rs775400380
|
0.00001
|
|
NM_000018.4(ACADVL):c.63-18A>G
|
rs1481782237
|
0.00001
|
|
NM_000018.4(ACADVL):c.707C>T (p.Pro236Leu)
|
rs1336637427
|
0.00001
|
|
NM_000018.4(ACADVL):c.715A>G (p.Lys239Glu)
|
rs776331587
|
0.00001
|
|
NM_000018.4(ACADVL):c.725C>T (p.Thr242Ile)
|
rs769631635
|
0.00001
|
|
NM_000018.4(ACADVL):c.728T>A (p.Leu243His)
|
rs772999007
|
0.00001
|
|
NM_000018.4(ACADVL):c.752+5C>T
|
rs768041919
|
0.00001
|
|
NM_000018.4(ACADVL):c.782T>C (p.Val261Ala)
|
rs756069599
|
0.00001
|
|
NM_000018.4(ACADVL):c.823G>A (p.Val275Met)
|
rs761199646
|
0.00001
|
|
NM_000018.4(ACADVL):c.829G>A (p.Glu277Lys)
|
rs1208459885
|
0.00001
|
|
NM_000018.4(ACADVL):c.862T>A (p.Phe288Ile)
|
rs1209359519
|
0.00001
|
|
NM_000018.4(ACADVL):c.907A>G (p.Lys303Glu)
|
rs369149696
|
0.00001
|
|
NM_000018.4(ACADVL):c.91C>T (p.Pro31Ser)
|
rs1487946294
|
0.00001
|
|
NM_000018.4(ACADVL):c.950T>C (p.Val317Ala)
|
rs398123095
|
0.00001
|
|
NM_000018.4(ACADVL):c.95G>A (p.Arg32Gln)
|
rs754806489
|
0.00001
|
|
NM_000018.4(ACADVL):c.964G>A (p.Val322Met)
|
rs1257648581
|
0.00001
|
|
NM_000023.4(SGCA):c.1015G>A (p.Gly339Arg)
|
rs540254057
|
0.00001
|
|
NM_000023.4(SGCA):c.1034G>A (p.Arg345Gln)
|
rs771876078
|
0.00001
|
|
NM_000023.4(SGCA):c.1064G>A (p.Arg355Gln)
|
rs1270625423
|
0.00001
|
|
NM_000023.4(SGCA):c.1108C>T (p.Arg370Trp)
|
rs368243053
|
0.00001
|
|
NM_000023.4(SGCA):c.1121G>A (p.Arg374His)
|
rs150524482
|
0.00001
|
|
NM_000023.4(SGCA):c.1136A>G (p.Gln379Arg)
|
rs930871528
|
0.00001
|
|
NM_000023.4(SGCA):c.1159C>T (p.His387Tyr)
|
rs1905861368
|
0.00001
|
|
NM_000023.4(SGCA):c.131C>T (p.Thr44Met)
|
rs770516658
|
0.00001
|
|
NM_000023.4(SGCA):c.289G>C (p.Asp97His)
|
rs774299871
|
0.00001
|
|
NM_000023.4(SGCA):c.37+3A>G
|
rs1370709181
|
0.00001
|
|
NM_000023.4(SGCA):c.422G>A (p.Arg141His)
|
rs1325350236
|
0.00001
|
|
NM_000023.4(SGCA):c.430G>A (p.Asp144Asn)
|
rs771485989
|
0.00001
|
|
NM_000023.4(SGCA):c.442G>A (p.Val148Met)
|
rs1288174276
|
0.00001
|
|
NM_000023.4(SGCA):c.488G>C (p.Gly163Ala)
|
rs1356585975
|
0.00001
|
|
NM_000023.4(SGCA):c.506A>T (p.Glu169Val)
|
rs376376394
|
0.00001
|
|
NM_000023.4(SGCA):c.592A>G (p.Ile198Val)
|
rs375463037
|
0.00001
|
|
NM_000023.4(SGCA):c.649G>A (p.Asp217Asn)
|
rs780564461
|
0.00001
|
|
NM_000023.4(SGCA):c.64G>A (p.Glu22Lys)
|
rs753784732
|
0.00001
|
|
NM_000023.4(SGCA):c.658G>A (p.Ala220Thr)
|
rs958974999
|
0.00001
|
|
NM_000023.4(SGCA):c.700G>A (p.Asp234Asn)
|
rs760608643
|
0.00001
|
|
NM_000023.4(SGCA):c.708G>C (p.Leu236Phe)
|
rs1483510494
|
0.00001
|
|
NM_000023.4(SGCA):c.716A>G (p.His239Arg)
|
rs398123099
|
0.00001
|
|
NM_000023.4(SGCA):c.721C>T (p.Arg241Cys)
|
rs753972912
|
0.00001
|
|
NM_000023.4(SGCA):c.737A>G (p.Asn246Ser)
|
rs886042858
|
0.00001
|
|
NM_000023.4(SGCA):c.747+3G>A
|
rs368388538
|
0.00001
|
|
NM_000023.4(SGCA):c.748-3C>T
|
rs794727834
|
0.00001
|
|
NM_000023.4(SGCA):c.847G>C (p.Asp283His)
|
rs766674286
|
0.00001
|
|
NM_000023.4(SGCA):c.89C>T (p.Pro30Leu)
|
rs886043256
|
0.00001
|
|
NM_000023.4(SGCA):c.957-11C>G
|
rs1391089933
|
0.00001
|
|
NM_000023.4(SGCA):c.974C>T (p.Ala325Val)
|
rs780200261
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.210G>C (p.Gln70His)
|
rs977521848
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.253C>T (p.Arg85Cys)
|
rs376769286
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.403A>G (p.Lys135Glu)
|
rs1557192022
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.419C>T (p.Thr140Ile)
|
rs727503454
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.430A>G (p.Met144Val)
|
rs2068413364
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.460+1G>A
|
rs878853655
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.460+5G>A
|
rs1325571965
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.535C>G (p.Pro179Ala)
|
rs397515744
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.576C>G (p.Phe192Leu)
|
rs1557193924
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.593G>A (p.Arg198His)
|
rs371236390
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.689G>A (p.Arg230His)
|
rs782655300
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.850C>T (p.Leu284Phe)
|
rs782523340
|
0.00001
|
|
NM_000117.3(EMD):c.103G>A (p.Glu35Lys)
|
rs782222974
|
0.00001
|
|
NM_000117.3(EMD):c.149C>A (p.Pro50His)
|
rs782021157
|
0.00001
|
|
NM_000117.3(EMD):c.242A>G (p.Asp81Gly)
|
rs1557182377
|
0.00001
|
|
NM_000117.3(EMD):c.295T>C (p.Tyr99His)
|
rs781835089
|
0.00001
|
|
NM_000117.3(EMD):c.359C>T (p.Ser120Leu)
|
rs782038352
|
0.00001
|
|
NM_000117.3(EMD):c.400G>A (p.Val134Met)
|
rs201250825
|
0.00001
|
|
NM_000117.3(EMD):c.406G>C (p.Asp136His)
|
rs869025401
|
0.00001
|
|
NM_000117.3(EMD):c.436G>A (p.Glu146Lys)
|
rs782732591
|
0.00001
|
|
NM_000117.3(EMD):c.494C>T (p.Thr165Met)
|
rs397515751
|
0.00001
|
|
NM_000117.3(EMD):c.542A>G (p.Tyr181Cys)
|
rs1569552104
|
0.00001
|
|
NM_000117.3(EMD):c.557C>T (p.Ser186Phe)
|
rs372718547
|
0.00001
|
|
NM_000117.3(EMD):c.575C>T (p.Ser192Phe)
|
rs782393829
|
0.00001
|
|
NM_000117.3(EMD):c.593C>T (p.Ser198Phe)
|
rs1569552105
|
0.00001
|
|
NM_000117.3(EMD):c.619C>T (p.Arg207Trp)
|
rs2067885563
|
0.00001
|
|
NM_000117.3(EMD):c.620G>A (p.Arg207Gln)
|
rs782352489
|
0.00001
|
|
NM_000117.3(EMD):c.631C>T (p.Arg211Cys)
|
rs782193940
|
0.00001
|
|
NM_000117.3(EMD):c.728A>C (p.Tyr243Ser)
|
rs782208090
|
0.00001
|
|
NM_000126.4(ETFA):c.1001G>T (p.Ter334Leu)
|
rs201424632
|
0.00001
|
|
NM_000126.4(ETFA):c.2T>C (p.Met1Thr)
|
rs727503918
|
0.00001
|
|
NM_000126.4(ETFA):c.392C>T (p.Pro131Leu)
|
rs1323414196
|
0.00001
|
|
NM_000126.4(ETFA):c.39G>A (p.Ala13=)
|
rs776956043
|
0.00001
|
|
NM_000126.4(ETFA):c.457G>C (p.Ala153Pro)
|
rs1398343360
|
0.00001
|
|
NM_000126.4(ETFA):c.506G>A (p.Arg169His)
|
rs375660532
|
0.00001
|
|
NM_000126.4(ETFA):c.509G>A (p.Gly170Glu)
|
rs780998008
|
0.00001
|
|
NM_000126.4(ETFA):c.746G>A (p.Arg249His)
|
rs886051488
|
0.00001
|
|
NM_000126.4(ETFA):c.81G>C (p.Glu27Asp)
|
rs772068605
|
0.00001
|
|
NM_000126.4(ETFA):c.932C>T (p.Ala311Val)
|
rs1263820606
|
0.00001
|
|
NM_000152.5(GAA):c.-32-3C>T
|
rs1055945806
|
0.00001
|
|
NM_000152.5(GAA):c.1012G>T (p.Asp338Tyr)
|
rs1334402365
|
0.00001
|
|
NM_000152.5(GAA):c.1059G>C (p.Gln353His)
|
rs376146090
|
0.00001
|
|
NM_000152.5(GAA):c.1075+4G>A
|
rs754290055
|
0.00001
|
|
NM_000152.5(GAA):c.1076-3C>T
|
rs1220435321
|
0.00001
|
|
NM_000152.5(GAA):c.109C>G (p.Leu37Val)
|
rs369775994
|
0.00001
|
|
NM_000152.5(GAA):c.1133A>G (p.Tyr378Cys)
|
rs963719602
|
0.00001
|
|
NM_000152.5(GAA):c.1171A>G (p.Met391Val)
|
rs778634337
|
0.00001
|
|
NM_000152.5(GAA):c.1184A>T (p.His395Leu)
|
rs775121651
|
0.00001
|
|
NM_000152.5(GAA):c.1195-8G>A
|
rs1194778188
|
0.00001
|
|
NM_000152.5(GAA):c.1229C>T (p.Ser410Phe)
|
rs777431563
|
0.00001
|
|
NM_000152.5(GAA):c.1231C>T (p.Arg411Trp)
|
rs772730706
|
0.00001
|
|
NM_000152.5(GAA):c.1274C>T (p.Pro425Leu)
|
rs765235868
|
0.00001
|
|
NM_000152.5(GAA):c.1298A>G (p.Gln433Arg)
|
rs201463496
|
0.00001
|
|
NM_000152.5(GAA):c.1306C>T (p.Arg436Trp)
|
rs777372252
|
0.00001
|
|
NM_000152.5(GAA):c.1319T>C (p.Met440Thr)
|
rs768847441
|
0.00001
|
|
NM_000152.5(GAA):c.1324G>A (p.Val442Met)
|
rs377559348
|
0.00001
|
|
NM_000152.5(GAA):c.1326+20G>A
|
rs774138443
|
0.00001
|
|
NM_000152.5(GAA):c.1361G>A (p.Ser454Asn)
|
rs2039191738
|
0.00001
|
|
NM_000152.5(GAA):c.1406C>T (p.Thr469Ile)
|
rs768500880
|
0.00001
|
|
NM_000152.5(GAA):c.1438G>A (p.Val480Ile)
|
rs769574574
|
0.00001
|
|
NM_000152.5(GAA):c.1514A>C (p.Glu505Ala)
|
rs1418481698
|
0.00001
|
|
NM_000152.5(GAA):c.151G>A (p.Glu51Lys)
|
rs2039030436
|
0.00001
|
|
NM_000152.5(GAA):c.1594G>A (p.Gly532Ser)
|
rs773576381
|
0.00001
|
|
NM_000152.5(GAA):c.1607A>G (p.Asn536Ser)
|
rs368568190
|
0.00001
|
|
NM_000152.5(GAA):c.1643T>C (p.Val548Ala)
|
rs754686630
|
0.00001
|
|
NM_000152.5(GAA):c.1660G>C (p.Ala554Pro)
|
rs1283351706
|
0.00001
|
|
NM_000152.5(GAA):c.1669A>G (p.Ile557Val)
|
rs747150965
|
0.00001
|
|
NM_000152.5(GAA):c.1755-3C>T
|
rs748327755
|
0.00001
|
|
NM_000152.5(GAA):c.1757C>T (p.Ala586Val)
|
rs770021831
|
0.00001
|
|
NM_000152.5(GAA):c.1771C>T (p.Arg591Trp)
|
rs770983413
|
0.00001
|
|
NM_000152.5(GAA):c.1772G>A (p.Arg591Gln)
|
rs528010457
|
0.00001
|
|
NM_000152.5(GAA):c.1774G>A (p.Gly592Arg)
|
rs1387345310
|
0.00001
|
|
NM_000152.5(GAA):c.1871T>C (p.Leu624Pro)
|
rs2039267331
|
0.00001
|
|
NM_000152.5(GAA):c.1876T>G (p.Ser626Ala)
|
rs1235035841
|
0.00001
|
|
NM_000152.5(GAA):c.1886C>T (p.Pro629Leu)
|
rs746961289
|
0.00001
|
|
NM_000152.5(GAA):c.1889-7C>G
|
rs765713320
|
0.00001
|
|
NM_000152.5(GAA):c.1989G>T (p.Gln663His)
|
rs1189531783
|
0.00001
|
|
NM_000152.5(GAA):c.1996G>T (p.Ala666Ser)
|
rs916566117
|
0.00001
|
|
NM_000152.5(GAA):c.2005C>A (p.Pro669Thr)
|
rs752507985
|
0.00001
|
|
NM_000152.5(GAA):c.2012T>C (p.Met671Thr)
|
rs398123170
|
0.00001
|
|
NM_000152.5(GAA):c.2050C>T (p.Pro684Ser)
|
rs776486462
|
0.00001
|
|
NM_000152.5(GAA):c.206A>G (p.Gln69Arg)
|
rs767191385
|
0.00001
|
|
NM_000152.5(GAA):c.2078A>G (p.Gln693Arg)
|
rs779338215
|
0.00001
|
|
NM_000152.5(GAA):c.2137T>C (p.Phe713Leu)
|
rs755618776
|
0.00001
|
|
NM_000152.5(GAA):c.214C>A (p.Pro72Thr)
|
rs923068950
|
0.00001
|
|
NM_000152.5(GAA):c.2179C>T (p.Leu727Phe)
|
rs1290010789
|
0.00001
|
|
NM_000152.5(GAA):c.217G>A (p.Gly73Ser)
|
rs760644219
|
0.00001
|
|
NM_000152.5(GAA):c.2182T>C (p.Phe728Leu)
|
rs1232306443
|
0.00001
|
|
NM_000152.5(GAA):c.2198A>G (p.Lys733Arg)
|
rs763612880
|
0.00001
|
|
NM_000152.5(GAA):c.2218G>T (p.Val740Leu)
|
rs752122499
|
0.00001
|
|
NM_000152.5(GAA):c.221G>A (p.Arg74His)
|
rs764797280
|
0.00001
|
|
NM_000152.5(GAA):c.2221G>A (p.Asp741Asn)
|
rs755272974
|
0.00001
|
|
NM_000152.5(GAA):c.2284G>A (p.Glu762Lys)
|
rs760063214
|
0.00001
|
|
NM_000152.5(GAA):c.2401G>A (p.Glu801Lys)
|
rs201980859
|
0.00001
|
|
NM_000152.5(GAA):c.2459C>T (p.Ala820Val)
|
rs786204304
|
0.00001
|
|
NM_000152.5(GAA):c.247G>A (p.Asp83Asn)
|
rs771101156
|
0.00001
|
|
NM_000152.5(GAA):c.2509C>T (p.Arg837Cys)
|
rs752421149
|
0.00001
|
|
NM_000152.5(GAA):c.2521A>G (p.Met841Val)
|
rs1184116513
|
0.00001
|
|
NM_000152.5(GAA):c.2536G>A (p.Ala846Thr)
|
rs1464282302
|
0.00001
|
|
NM_000152.5(GAA):c.2598A>C (p.Glu866Asp)
|
rs1445358978
|
0.00001
|
|
NM_000152.5(GAA):c.260A>G (p.Asn87Ser)
|
rs117530672
|
0.00001
|
|
NM_000152.5(GAA):c.2651C>T (p.Thr884Met)
|
rs759144318
|
0.00001
|
|
NM_000152.5(GAA):c.2735C>T (p.Ala912Val)
|
rs778874712
|
0.00001
|
|
NM_000152.5(GAA):c.2819C>T (p.Ser940Leu)
|
rs1343332597
|
0.00001
|
|
NM_000152.5(GAA):c.2833G>C (p.Glu945Gln)
|
rs1034101189
|
0.00001
|
|
NM_000152.5(GAA):c.2845G>A (p.Val949Ile)
|
rs183458422
|
0.00001
|
|
NM_000152.5(GAA):c.2846T>A (p.Val949Asp)
|
rs1245412108
|
0.00001
|
|
NM_000152.5(GAA):c.286A>G (p.Lys96Glu)
|
rs778816809
|
0.00001
|
|
NM_000152.5(GAA):c.298C>A (p.Gln100Lys)
|
rs780027584
|
0.00001
|
|
NM_000152.5(GAA):c.314C>T (p.Ala105Val)
|
rs761409404
|
0.00001
|
|
NM_000152.5(GAA):c.328T>C (p.Tyr110His)
|
rs761311330
|
0.00001
|
|
NM_000152.5(GAA):c.347G>T (p.Gly116Val)
|
rs754285414
|
0.00001
|
|
NM_000152.5(GAA):c.364A>G (p.Met122Val)
|
rs2039040448
|
0.00001
|
|
NM_000152.5(GAA):c.395G>C (p.Ser132Thr)
|
rs772908626
|
0.00001
|
|
NM_000152.5(GAA):c.425G>A (p.Ser142Asn)
|
rs754195673
|
0.00001
|
|
NM_000152.5(GAA):c.435A>T (p.Glu145Asp)
|
rs765586839
|
0.00001
|
|
NM_000152.5(GAA):c.461G>A (p.Arg154His)
|
rs781124934
|
0.00001
|
|
NM_000152.5(GAA):c.472A>G (p.Thr158Ala)
|
rs1598570556
|
0.00001
|
|
NM_000152.5(GAA):c.488A>T (p.Asp163Val)
|
rs755903462
|
0.00001
|
|
NM_000152.5(GAA):c.49G>A (p.Ala17Thr)
|
rs751425831
|
0.00001
|
|
NM_000152.5(GAA):c.503G>T (p.Arg168Leu)
|
rs376685205
|
0.00001
|
|
NM_000152.5(GAA):c.511G>A (p.Val171Met)
|
rs886053543
|
0.00001
|
|
NM_000152.5(GAA):c.514A>G (p.Met172Val)
|
rs1307823755
|
0.00001
|
|
NM_000152.5(GAA):c.530A>C (p.Asn177Thr)
|
rs936395356
|
0.00001
|
|
NM_000152.5(GAA):c.532C>T (p.Arg178Cys)
|
rs762439362
|
0.00001
|
|
NM_000152.5(GAA):c.539A>G (p.His180Arg)
|
rs773474041
|
0.00001
|
|
NM_000152.5(GAA):c.549C>G (p.Ile183Met)
|
rs778132082
|
0.00001
|
|
NM_000152.5(GAA):c.560C>G (p.Ala187Gly)
|
rs749876645
|
0.00001
|
|
NM_000152.5(GAA):c.574G>A (p.Glu192Lys)
|
rs1407372901
|
0.00001
|
|
NM_000152.5(GAA):c.576G>C (p.Glu192Asp)
|
rs760655446
|
0.00001
|
|
NM_000152.5(GAA):c.607C>T (p.Arg203Trp)
|
rs751286274
|
0.00001
|
|
NM_000152.5(GAA):c.608G>A (p.Arg203Gln)
|
rs754446365
|
0.00001
|
|
NM_000152.5(GAA):c.625T>C (p.Tyr209His)
|
rs930808379
|
0.00001
|
|
NM_000152.5(GAA):c.631G>A (p.Val211Met)
|
rs760995790
|
0.00001
|
|
NM_000152.5(GAA):c.634G>A (p.Glu212Lys)
|
rs768596085
|
0.00001
|
|
NM_000152.5(GAA):c.683G>A (p.Gly228Asp)
|
rs1470881018
|
0.00001
|
|
NM_000152.5(GAA):c.704C>T (p.Thr235Met)
|
rs752950890
|
0.00001
|
|
NM_000152.5(GAA):c.706G>T (p.Val236Leu)
|
rs777964427
|
0.00001
|
|
NM_000152.5(GAA):c.70G>A (p.Ala24Thr)
|
rs139716763
|
0.00001
|
|
NM_000152.5(GAA):c.723T>G (p.Phe241Leu)
|
rs1160112655
|
0.00001
|
|
NM_000152.5(GAA):c.745T>C (p.Ser249Pro)
|
rs1386718298
|
0.00001
|
|
NM_000152.5(GAA):c.74C>T (p.Ala25Val)
|
rs768867363
|
0.00001
|
|
NM_000152.5(GAA):c.758C>G (p.Pro253Arg)
|
rs1169157671
|
0.00001
|
|
NM_000152.5(GAA):c.764A>G (p.Gln255Arg)
|
rs1405975877
|
0.00001
|
|
NM_000152.5(GAA):c.795T>A (p.Ser265Arg)
|
rs779785396
|
0.00001
|
|
NM_000152.5(GAA):c.804G>A (p.Met268Ile)
|
rs1185610552
|
0.00001
|
|
NM_000152.5(GAA):c.863G>A (p.Gly288Asp)
|
rs769074720
|
0.00001
|
|
NM_000152.5(GAA):c.910G>A (p.Gly304Ser)
|
rs140301384
|
0.00001
|
|
NM_000152.5(GAA):c.955+5G>C
|
rs759508507
|
0.00001
|
|
NM_000152.5(GAA):c.969G>T (p.Gln323His)
|
rs1266693289
|
0.00001
|
|
NM_000152.5(GAA):c.995C>T (p.Ser332Leu)
|
rs757608620
|
0.00001
|
|
NM_000182.5(HADHA):c.1196G>A (p.Arg399Gln)
|
rs200715496
|
0.00001
|
|
NM_000182.5(HADHA):c.1325A>T (p.Asp442Val)
|
rs751092349
|
0.00001
|
|
NM_000182.5(HADHA):c.1829G>A (p.Arg610Gln)
|
rs373966336
|
0.00001
|
|
NM_000182.5(HADHA):c.1939G>C (p.Asp647His)
|
rs1669533378
|
0.00001
|
|
NM_000182.5(HADHA):c.1958A>G (p.Asp653Gly)
|
rs1214955457
|
0.00001
|
|
NM_000182.5(HADHA):c.2000T>G (p.Val667Gly)
|
rs1669530550
|
0.00001
|
|
NM_000182.5(HADHA):c.2186T>C (p.Ile729Thr)
|
rs143434901
|
0.00001
|
|
NM_000182.5(HADHA):c.2193C>A (p.Asp731Glu)
|
rs1348209738
|
0.00001
|
|
NM_000182.5(HADHA):c.241G>A (p.Ala81Thr)
|
rs1281408938
|
0.00001
|
|
NM_000182.5(HADHA):c.341A>G (p.Gln114Arg)
|
rs145798498
|
0.00001
|
|
NM_000182.5(HADHA):c.489A>T (p.Lys163Asn)
|
rs1347586924
|
0.00001
|
|
NM_000182.5(HADHA):c.509G>A (p.Gly170Asp)
|
rs746937892
|
0.00001
|
|
NM_000182.5(HADHA):c.67+3G>A
|
rs759265828
|
0.00001
|
|
NM_000182.5(HADHA):c.911T>C (p.Ile304Thr)
|
rs369774960
|
0.00001
|
|
NM_000231.3(SGCG):c.137T>G (p.Ile46Ser)
|
rs1019389043
|
0.00001
|
|
NM_000231.3(SGCG):c.190T>C (p.Ser64Pro)
|
rs886042587
|
0.00001
|
|
NM_000231.3(SGCG):c.22A>G (p.Thr8Ala)
|
rs771657671
|
0.00001
|
|
NM_000231.3(SGCG):c.236G>A (p.Arg79His)
|
rs375766013
|
0.00001
|
|
NM_000231.3(SGCG):c.326A>G (p.Gln109Arg)
|
rs201514102
|
0.00001
|
|
NM_000231.3(SGCG):c.346C>T (p.Arg116Cys)
|
rs191040430
|
0.00001
|
|
NM_000231.3(SGCG):c.392A>G (p.Lys131Arg)
|
rs544414698
|
0.00001
|
|
NM_000231.3(SGCG):c.440G>A (p.Gly147Asp)
|
rs767605031
|
0.00001
|
|
NM_000231.3(SGCG):c.505+3A>G
|
rs1881219940
|
0.00001
|
|
NM_000231.3(SGCG):c.625G>T (p.Val209Leu)
|
rs563129062
|
0.00001
|
|
NM_000231.3(SGCG):c.629A>G (p.His210Arg)
|
rs1045567625
|
0.00001
|
|
NM_000231.3(SGCG):c.703C>T (p.Leu235Phe)
|
rs763780768
|
0.00001
|
|
NM_000231.3(SGCG):c.77T>C (p.Ile26Thr)
|
rs886043151
|
0.00001
|
|
NM_000231.3(SGCG):c.781C>G (p.Leu261Val)
|
rs1460327315
|
0.00001
|
|
NM_000231.3(SGCG):c.7C>T (p.Arg3Cys)
|
rs140310896
|
0.00001
|
|
NM_000232.5(SGCB):c.124G>A (p.Ala42Thr)
|
rs1363676745
|
0.00001
|
|
NM_000232.5(SGCB):c.140T>C (p.Ile47Thr)
|
rs763102674
|
0.00001
|
|
NM_000232.5(SGCB):c.178A>G (p.Arg60Gly)
|
rs1320144493
|
0.00001
|
|
NM_000232.5(SGCB):c.227C>A (p.Ala76Asp)
|
rs562380026
|
0.00001
|
|
NM_000232.5(SGCB):c.244-20G>A
|
rs534867504
|
0.00001
|
|
NM_000232.5(SGCB):c.244A>G (p.Ile82Val)
|
rs143106297
|
0.00001
|
|
NM_000232.5(SGCB):c.370A>G (p.Lys124Glu)
|
rs760596229
|
0.00001
|
|
NM_000232.5(SGCB):c.455A>G (p.Lys152Arg)
|
rs1009256568
|
0.00001
|
|
NM_000232.5(SGCB):c.502A>G (p.Met168Val)
|
rs754465904
|
0.00001
|
|
NM_000232.5(SGCB):c.504G>A (p.Met168Ile)
|
rs768628837
|
0.00001
|
|
NM_000232.5(SGCB):c.556A>G (p.Thr186Ala)
|
rs1451834188
|
0.00001
|
|
NM_000232.5(SGCB):c.622-7T>G
|
rs745333182
|
0.00001
|
|
NM_000232.5(SGCB):c.680G>A (p.Arg227His)
|
rs762079028
|
0.00001
|
|
NM_000232.5(SGCB):c.716T>C (p.Ile239Thr)
|
rs759966387
|
0.00001
|
|
NM_000232.5(SGCB):c.731G>A (p.Gly244Asp)
|
rs570902880
|
0.00001
|
|
NM_000232.5(SGCB):c.736A>T (p.Asn246Tyr)
|
rs747907287
|
0.00001
|
|
NM_000232.5(SGCB):c.740T>C (p.Met247Thr)
|
rs1283480940
|
0.00001
|
|
NM_000232.5(SGCB):c.763A>G (p.Ile255Val)
|
rs569029693
|
0.00001
|
|
NM_000232.5(SGCB):c.915G>A (p.Met305Ile)
|
rs1408223045
|
0.00001
|
|
NM_000232.5(SGCB):c.940T>C (p.Cys314Arg)
|
rs573919387
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1003C>T (p.Arg335Cys)
|
rs730880630
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1009G>A (p.Ala337Thr)
|
rs769830766
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1024G>A (p.Val342Ile)
|
rs397515882
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1037G>A (p.Arg346His)
|
rs397515883
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1039G>A (p.Gly347Ser)
|
rs397515884
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1070G>A (p.Arg357His)
|
rs199741162
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1112C>T (p.Pro371Leu)
|
rs397515887
|
0.00001
|
|
NM_000256.3(MYBPC3):c.112G>A (p.Val38Met)
|
rs1299024877
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1139A>G (p.Lys380Arg)
|
rs1377634776
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1145G>A (p.Arg382Gln)
|
rs753660871
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1147C>G (p.Leu383Val)
|
rs11570077
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1153G>A (p.Val385Met)
|
rs772073491
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1174G>A (p.Ala392Thr)
|
rs1019697151
|
0.00001
|
|
NM_000256.3(MYBPC3):c.11C>T (p.Pro4Leu)
|
rs748689012
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1219G>A (p.Gly407Ser)
|
rs727505266
|
0.00001
|
|
NM_000256.3(MYBPC3):c.122G>A (p.Arg41His)
|
rs764849803
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1297G>A (p.Ala433Thr)
|
rs2095890714
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1316G>A (p.Gly439Asp)
|
rs763045718
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1357C>G (p.Pro453Ala)
|
rs749310275
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1363C>T (p.Leu455Phe)
|
rs747686377
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1373G>A (p.Arg458His)
|
rs374255707
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1375C>T (p.Pro459Ser)
|
rs758901980
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1397T>A (p.Met466Lys)
|
rs397515899
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1433C>T (p.Ser478Leu)
|
rs730880540
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1457+5G>A
|
rs727503202
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1459C>A (p.Leu487Met)
|
rs771741441
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1469G>A (p.Gly490Glu)
|
rs397514752
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1471G>A (p.Val491Met)
|
rs730880543
|
0.00001
|
|
NM_000256.3(MYBPC3):c.148A>G (p.Ser50Gly)
|
rs373164247
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1499A>C (p.Lys500Thr)
|
rs761672176
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1549G>T (p.Ala517Ser)
|
rs1565627873
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1554G>A (p.Met518Ile)
|
rs372499440
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1585A>T (p.Thr529Ser)
|
rs1165486681
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1652T>A (p.Ile551Asn)
|
rs1047978195
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1664T>C (p.Met555Thr)
|
rs730880692
|
0.00001
|
|
NM_000256.3(MYBPC3):c.166G>A (p.Gly56Ser)
|
rs397515918
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1759G>A (p.Asp587Asn)
|
rs730880526
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1765C>T (p.Arg589Cys)
|
rs1329919535
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1766G>A (p.Arg589His)
|
rs397515923
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1773G>T (p.Lys591Asn)
|
rs754902004
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1778C>T (p.Ser593Phe)
|
rs397515924
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1791-13T>A
|
rs982545302
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1791G>C (p.Arg597=)
|
rs772488845
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1792G>A (p.Val598Ile)
|
rs1213708580
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1805C>T (p.Thr602Ile)
|
rs730880551
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1809T>G (p.Ile603Met)
|
rs774348756
|
0.00001
|
|
NM_000256.3(MYBPC3):c.188G>A (p.Arg63Gln)
|
rs549239819
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1897+3G>A
|
rs937023392
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1899G>A (p.Glu633=)
|
rs1206508060
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1927+3A>C
|
rs730880559
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1972A>T (p.Thr658Ser)
|
rs950381214
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1976T>C (p.Ile659Thr)
|
rs397515941
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2035C>T (p.Pro679Ser)
|
rs372493586
|
0.00001
|
|
NM_000256.3(MYBPC3):c.205C>T (p.Arg69Trp)
|
rs1173357672
|
0.00001
|
|
NM_000256.3(MYBPC3):c.206G>A (p.Arg69Gln)
|
rs397515945
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2155T>C (p.Cys719Arg)
|
rs1384644997
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2164G>A (p.Glu722Lys)
|
rs730880696
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2170C>T (p.Arg724Trp)
|
rs200399246
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2269G>A (p.Val757Met)
|
rs369790992
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2274C>T (p.Gly758=)
|
rs397515957
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2300A>G (p.Lys767Arg)
|
rs760786216
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2307C>T (p.Ile769=)
|
rs775491112
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2320G>A (p.Ala774Thr)
|
rs368104687
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2327C>T (p.Ala776Val)
|
rs1188736507
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2330C>T (p.Ala777Val)
|
rs759631792
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2336A>G (p.Lys779Arg)
|
rs774512738
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2345A>G (p.Asn782Ser)
|
rs776351251
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2347G>T (p.Val783Leu)
|
rs1060499878
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2351G>C (p.Gly784Ala)
|
rs931275955
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2355G>C (p.Glu785Asp)
|
rs2095883992
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2398G>A (p.Gly800Arg)
|
rs727504574
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2399G>A (p.Gly800Glu)
|
rs1273374175
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2465A>T (p.Asn822Ile)
|
rs1471202212
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2501G>C (p.Arg834Pro)
|
rs540988604
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2512G>C (p.Glu838Gln)
|
rs397515969
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2536G>A (p.Val846Ile)
|
rs747774791
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2538C>G (p.Val846=)
|
rs776282342
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2551G>A (p.Ala851Thr)
|
rs730880571
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2557G>A (p.Gly853Ser)
|
rs397515976
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2573G>A (p.Ser858Asn)
|
rs727503185
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2641G>A (p.Val881Ile)
|
rs727504360
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2665A>C (p.Lys889Gln)
|
rs970845959
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2671C>T (p.Arg891Trp)
|
rs727504418
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2690G>A (p.Gly897Glu)
|
rs1365263649
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2714G>A (p.Ser905Asn)
|
rs397515983
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2716G>A (p.Val906Met)
|
rs774634021
|
0.00001
|
|
NM_000256.3(MYBPC3):c.271G>A (p.Asp91Asn)
|
rs778851720
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2723A>G (p.Tyr908Cys)
|
rs397515984
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2771C>T (p.Thr924Ile)
|
rs200406864
|
0.00001
|
|
NM_000256.3(MYBPC3):c.280G>T (p.Val94Phe)
|
rs770777166
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2815C>T (p.Arg939Trp)
|
rs534366414
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2833C>T (p.Arg945Trp)
|
rs727503183
|
0.00001
|
|
NM_000256.3(MYBPC3):c.283A>C (p.Ile95Leu)
|
rs549758428
|
0.00001
|
|
NM_000256.3(MYBPC3):c.284T>C (p.Ile95Thr)
|
rs727504945
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2888C>T (p.Thr963Ile)
|
rs2095880897
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2915G>A (p.Arg972Gln)
|
rs761696555
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2927C>G (p.Pro976Arg)
|
rs954096716
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2938C>T (p.Arg980Cys)
|
rs397515994
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2962G>A (p.Gly988Arg)
|
rs779781718
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2993A>G (p.Gln998Arg)
|
rs727503177
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3037C>G (p.Pro1013Ala)
|
rs965977966
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3058A>G (p.Ser1020Gly)
|
rs2095879641
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3098G>A (p.Arg1033Gln)
|
rs397516003
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3109C>T (p.Arg1037Cys)
|
rs758421775
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3110G>A (p.Arg1037His)
|
rs750609594
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3112G>A (p.Val1038Met)
|
rs370223247
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3142C>T (p.Arg1048Cys)
|
rs11570113
|
0.00001
|
|
NM_000256.3(MYBPC3):c.314C>T (p.Ala105Val)
|
rs1595850245
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3190+3G>A
|
rs536826395
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3197C>G (p.Pro1066Arg)
|
rs2095879154
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3200G>A (p.Ser1067Asn)
|
rs1183349793
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3210G>C (p.Gln1070His)
|
rs1164619452
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3217C>T (p.Arg1073Trp)
|
rs368973872
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3223A>G (p.Thr1075Ala)
|
rs767927162
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3227A>G (p.Asp1076Gly)
|
rs730880140
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3277G>T (p.Gly1093Cys)
|
rs727503173
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3284C>T (p.Thr1095Met)
|
rs755653624
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3295G>C (p.Gly1099Arg)
|
rs1064794364
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3316G>A (p.Asp1106Asn)
|
rs377106864
|
0.00001
|
|
NM_000256.3(MYBPC3):c.332C>T (p.Ala111Val)
|
rs730880530
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3358C>T (p.Arg1120Cys)
|
rs368721523
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3359G>A (p.Arg1120His)
|
rs1297036943
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3379C>T (p.Pro1127Ser)
|
rs1488618086
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3430A>G (p.Met1144Val)
|
rs1478200790
|
0.00001
|
|
NM_000256.3(MYBPC3):c.344G>A (p.Gly115Glu)
|
rs1555123616
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3457A>T (p.Thr1153Ser)
|
rs746297609
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3490+6G>A
|
rs397516021
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3514T>C (p.Tyr1172His)
|
rs1280085255
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3515A>C (p.Tyr1172Ser)
|
rs1214081908
|
0.00001
|
|
NM_000256.3(MYBPC3):c.355G>A (p.Glu119Lys)
|
rs397516025
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3568C>T (p.Arg1190Cys)
|
rs755160084
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3572C>T (p.Ser1191Leu)
|
rs761545914
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3605G>C (p.Cys1202Ser)
|
rs727503170
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3613C>T (p.Arg1205Trp)
|
rs727503171
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3628-3T>A
|
rs1369347280
|
0.00001
|
|
NM_000256.3(MYBPC3):c.364G>A (p.Ala122Thr)
|
rs754633960
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3661C>G (p.Leu1221Val)
|
rs1351250957
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3673G>A (p.Ala1225Thr)
|
rs1278226452
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3677G>A (p.Arg1226His)
|
rs397516034
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3685A>G (p.Met1229Val)
|
rs727503169
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3695A>C (p.Lys1232Thr)
|
rs1422822453
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3704T>C (p.Val1235Ala)
|
rs2095877788
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3715G>A (p.Glu1239Lys)
|
rs267602904
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3763G>A (p.Ala1255Thr)
|
rs727503167
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3780C>T (p.Gly1260=)
|
rs779312310
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3781G>A (p.Glu1261Lys)
|
rs730880141
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3812G>A (p.Arg1271Gln)
|
rs762225417
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3818C>T (p.Pro1273Leu)
|
rs369184972
|
0.00001
|
|
NM_000256.3(MYBPC3):c.394C>T (p.Pro132Ser)
|
rs1042129854
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3G>A (p.Met1Ile)
|
rs397516045
|
0.00001
|
|
NM_000256.3(MYBPC3):c.400C>T (p.Pro134Ser)
|
rs1233789701
|
0.00001
|
|
NM_000256.3(MYBPC3):c.406+5G>C
|
rs757353079
|
0.00001
|
|
NM_000256.3(MYBPC3):c.407G>C (p.Gly136Ala)
|
rs1337388106
|
0.00001
|
|
NM_000256.3(MYBPC3):c.412A>G (p.Ser138Gly)
|
rs776154213
|
0.00001
|
|
NM_000256.3(MYBPC3):c.418G>C (p.Ala140Pro)
|
rs730880614
|
0.00001
|
|
NM_000256.3(MYBPC3):c.41A>G (p.Lys14Arg)
|
rs779049126
|
0.00001
|
|
NM_000256.3(MYBPC3):c.422C>G (p.Ala141Gly)
|
rs1346020654
|
0.00001
|
|
NM_000256.3(MYBPC3):c.434C>A (p.Pro145His)
|
rs768309693
|
0.00001
|
|
NM_000256.3(MYBPC3):c.436A>C (p.Thr146Pro)
|
rs397516048
|
0.00001
|
|
NM_000256.3(MYBPC3):c.451G>A (p.Asp151Asn)
|
rs397516051
|
0.00001
|
|
NM_000256.3(MYBPC3):c.464G>T (p.Gly155Val)
|
rs1060501477
|
0.00001
|
|
NM_000256.3(MYBPC3):c.466C>G (p.Leu156Val)
|
rs1001923615
|
0.00001
|
|
NM_000256.3(MYBPC3):c.467T>C (p.Leu156Pro)
|
rs730880616
|
0.00001
|
|
NM_000256.3(MYBPC3):c.481C>A (p.Pro161Thr)
|
rs397516053
|
0.00001
|
|
NM_000256.3(MYBPC3):c.493G>A (p.Glu165Lys)
|
rs867067602
|
0.00001
|
|
NM_000256.3(MYBPC3):c.495G>C (p.Glu165Asp)
|
rs730880619
|
0.00001
|
|
NM_000256.3(MYBPC3):c.517A>G (p.Thr173Ala)
|
rs727505168
|
0.00001
|
|
NM_000256.3(MYBPC3):c.547C>T (p.Leu183Phe)
|
rs1293264960
|
0.00001
|
|
NM_000256.3(MYBPC3):c.553A>C (p.Lys185Gln)
|
rs375607980
|
0.00001
|
|
NM_000256.3(MYBPC3):c.56T>C (p.Val19Ala)
|
rs1247917628
|
0.00001
|
|
NM_000256.3(MYBPC3):c.602G>A (p.Ser201Asn)
|
rs1395414085
|
0.00001
|
|
NM_000256.3(MYBPC3):c.631G>A (p.Asp211Asn)
|
rs773414747
|
0.00001
|
|
NM_000256.3(MYBPC3):c.655G>T (p.Val219Phe)
|
rs397516068
|
0.00001
|
|
NM_000256.3(MYBPC3):c.721G>C (p.Val241Leu)
|
rs886039000
|
0.00001
|
|
NM_000256.3(MYBPC3):c.739T>C (p.Phe247Leu)
|
rs372574446
|
0.00001
|
|
NM_000256.3(MYBPC3):c.73A>T (p.Ser25Cys)
|
rs749970304
|
0.00001
|
|
NM_000256.3(MYBPC3):c.745T>C (p.Cys249Arg)
|
rs397516071
|
0.00001
|
|
NM_000256.3(MYBPC3):c.760C>G (p.Leu254Val)
|
rs1228355472
|
0.00001
|
|
NM_000256.3(MYBPC3):c.817C>T (p.Arg273Cys)
|
rs551119259
|
0.00001
|
|
NM_000256.3(MYBPC3):c.821C>T (p.Thr274Met)
|
rs748746951
|
0.00001
|
|
NM_000256.3(MYBPC3):c.822-3C>T
|
rs730880628
|
0.00001
|
|
NM_000256.3(MYBPC3):c.823A>T (p.Ser275Cys)
|
rs1224529304
|
0.00001
|
|
NM_000256.3(MYBPC3):c.845G>A (p.Arg282Gln)
|
rs761520688
|
0.00001
|
|
NM_000256.3(MYBPC3):c.852-17G>T
|
rs1369422685
|
0.00001
|
|
NM_000256.3(MYBPC3):c.901A>C (p.Lys301Gln)
|
rs730880629
|
0.00001
|
|
NM_000256.3(MYBPC3):c.905G>A (p.Arg302Lys)
|
rs1414396886
|
0.00001
|
|
NM_000256.3(MYBPC3):c.908+3A>G
|
rs2095895009
|
0.00001
|
|
NM_000256.3(MYBPC3):c.916C>T (p.Arg306Trp)
|
rs753884765
|
0.00001
|
|
NM_000256.3(MYBPC3):c.923C>T (p.Pro308Leu)
|
rs1330127507
|
0.00001
|
|
NM_000256.3(MYBPC3):c.927G>A (p.Arg309=)
|
rs1365616507
|
0.00001
|
|
NM_000256.3(MYBPC3):c.950C>T (p.Ala317Val)
|
rs1281956829
|
0.00001
|
|
NM_000256.3(MYBPC3):c.964T>C (p.Trp322Arg)
|
rs730880708
|
0.00001
|
|
NM_000257.4(MYH7):c.1019G>T (p.Gly340Val)
|
rs765585335
|
0.00001
|
|
NM_000257.4(MYH7):c.1045A>G (p.Met349Val)
|
rs730880730
|
0.00001
|
|
NM_000257.4(MYH7):c.1103A>C (p.Gln368Pro)
|
rs1001944415
|
0.00001
|
|
NM_000257.4(MYH7):c.1118C>T (p.Ala373Val)
|
rs730880924
|
0.00001
|
|
NM_000257.4(MYH7):c.1129G>C (p.Gly377Arg)
|
rs773599095
|
0.00001
|
|
NM_000257.4(MYH7):c.1257+17A>G
|
rs1555338358
|
0.00001
|
|
NM_000257.4(MYH7):c.1301G>A (p.Arg434Lys)
|
rs786205356
|
0.00001
|
|
NM_000257.4(MYH7):c.1305G>A (p.Met435Ile)
|
rs863224644
|
0.00001
|
|
NM_000257.4(MYH7):c.1315A>T (p.Met439Leu)
|
rs370310929
|
0.00001
|
|
NM_000257.4(MYH7):c.1337C>T (p.Thr446Ile)
|
rs1595086797
|
0.00001
|
|
NM_000257.4(MYH7):c.1407+4A>C
|
rs373043783
|
0.00001
|
|
NM_000257.4(MYH7):c.1456C>T (p.Gln486Ter)
|
rs1186558363
|
0.00001
|
|
NM_000257.4(MYH7):c.160C>T (p.Arg54Ter)
|
rs761841748
|
0.00001
|
|
NM_000257.4(MYH7):c.1630A>G (p.Thr544Ala)
|
rs397516119
|
0.00001
|
|
NM_000257.4(MYH7):c.1633G>A (p.Asp545Asn)
|
rs564101364
|
0.00001
|
|
NM_000257.4(MYH7):c.1662C>A (p.Asp554Glu)
|
rs750828477
|
0.00001
|
|
NM_000257.4(MYH7):c.1678T>A (p.Ser560Thr)
|
rs1892754005
|
0.00001
|
|
NM_000257.4(MYH7):c.1681G>A (p.Ala561Thr)
|
rs730880878
|
0.00001
|
|
NM_000257.4(MYH7):c.1684A>G (p.Asn562Asp)
|
rs397516118
|
0.00001
|
|
NM_000257.4(MYH7):c.1699C>T (p.Arg567Cys)
|
rs771771163
|
0.00001
|
|
NM_000257.4(MYH7):c.1700G>A (p.Arg567His)
|
rs377491278
|
0.00001
|
|
NM_000257.4(MYH7):c.1756G>A (p.Val586Met)
|
rs754465530
|
0.00001
|
|
NM_000257.4(MYH7):c.1772T>C (p.Ile591Thr)
|
rs775089432
|
0.00001
|
|
NM_000257.4(MYH7):c.1807G>A (p.Glu603Lys)
|
rs1038661561
|
0.00001
|
|
NM_000257.4(MYH7):c.184G>A (p.Glu62Lys)
|
rs727504416
|
0.00001
|
|
NM_000257.4(MYH7):c.1879G>T (p.Ala627Ser)
|
rs1174863002
|
0.00001
|
|
NM_000257.4(MYH7):c.1886C>T (p.Ala629Val)
|
rs140824103
|
0.00001
|
|
NM_000257.4(MYH7):c.1888+1G>C
|
rs113186231
|
0.00001
|
|
NM_000257.4(MYH7):c.1888C>T (p.Pro630Ser)
|
rs397516124
|
0.00001
|
|
NM_000257.4(MYH7):c.1903A>T (p.Lys635Ter)
|
rs1430156584
|
0.00001
|
|
NM_000257.4(MYH7):c.1948C>A (p.Leu650Met)
|
rs1892728965
|
0.00001
|
|
NM_000257.4(MYH7):c.201+13C>T
|
rs781529698
|
0.00001
|
|
NM_000257.4(MYH7):c.201+4G>C
|
rs748711806
|
0.00001
|
|
NM_000257.4(MYH7):c.2039C>T (p.Ser680Phe)
|
rs1175481910
|
0.00001
|
|
NM_000257.4(MYH7):c.2063del (p.Leu688fs)
|
rs888930078
|
0.00001
|
|
NM_000257.4(MYH7):c.208A>T (p.Thr70Ser)
|
rs397516129
|
0.00001
|
|
NM_000257.4(MYH7):c.2137A>G (p.Ile713Val)
|
rs1339799654
|
0.00001
|
|
NM_000257.4(MYH7):c.221A>G (p.Asp74Gly)
|
rs730880831
|
0.00001
|
|
NM_000257.4(MYH7):c.22G>A (p.Val8Ile)
|
rs754388460
|
0.00001
|
|
NM_000257.4(MYH7):c.2357C>T (p.Thr786Met)
|
rs781082864
|
0.00001
|
|
NM_000257.4(MYH7):c.2416G>A (p.Glu806Lys)
|
rs730880738
|
0.00001
|
|
NM_000257.4(MYH7):c.2508C>G (p.Ile836Met)
|
rs772442923
|
0.00001
|
|
NM_000257.4(MYH7):c.253G>A (p.Asp85Asn)
|
rs770246266
|
0.00001
|
|
NM_000257.4(MYH7):c.2570C>T (p.Thr857Ile)
|
rs397516158
|
0.00001
|
|
NM_000257.4(MYH7):c.2573G>A (p.Arg858His)
|
rs2856897
|
0.00001
|
|
NM_000257.4(MYH7):c.2578A>G (p.Lys860Glu)
|
rs759225115
|
0.00001
|
|
NM_000257.4(MYH7):c.2636C>A (p.Ser879Tyr)
|
rs145417343
|
0.00001
|
|
NM_000257.4(MYH7):c.2655T>A (p.Asn885Lys)
|
rs863225095
|
0.00001
|
|
NM_000257.4(MYH7):c.2677G>A (p.Ala893Thr)
|
rs750204313
|
0.00001
|
|
NM_000257.4(MYH7):c.2682A>C (p.Glu894Asp)
|
rs1452212789
|
0.00001
|
|
NM_000257.4(MYH7):c.268A>G (p.Met90Val)
|
rs769054108
|
0.00001
|
|
NM_000257.4(MYH7):c.2765T>C (p.Met922Thr)
|
rs771599539
|
0.00001
|
|
NM_000257.4(MYH7):c.2804A>T (p.Glu935Val)
|
rs730880761
|
0.00001
|
|
NM_000257.4(MYH7):c.2846A>T (p.Glu949Val)
|
rs397516175
|
0.00001
|
|
NM_000257.4(MYH7):c.2852A>G (p.Lys951Arg)
|
rs1230261713
|
0.00001
|
|
NM_000257.4(MYH7):c.2899G>A (p.Glu967Lys)
|
rs727503250
|
0.00001
|
|
NM_000257.4(MYH7):c.2922+3A>G
|
rs1227114881
|
0.00001
|
|
NM_000257.4(MYH7):c.2922+6G>C
|
rs781192476
|
0.00001
|
|
NM_000257.4(MYH7):c.2923-7T>A
|
rs746915271
|
0.00001
|
|
NM_000257.4(MYH7):c.2973G>T (p.Lys991Asn)
|
rs727504388
|
0.00001
|
|
NM_000257.4(MYH7):c.2974C>A (p.Leu992Met)
|
rs149840927
|
0.00001
|
|
NM_000257.4(MYH7):c.2981A>G (p.Lys994Arg)
|
rs1298804415
|
0.00001
|
|
NM_000257.4(MYH7):c.2990A>G (p.Lys997Arg)
|
rs1381730326
|
0.00001
|
|
NM_000257.4(MYH7):c.3010C>G (p.Gln1004Glu)
|
rs730880762
|
0.00001
|
|
NM_000257.4(MYH7):c.3028C>T (p.Leu1010Phe)
|
rs768312155
|
0.00001
|
|
NM_000257.4(MYH7):c.3094G>A (p.Asp1032Asn)
|
rs730880765
|
0.00001
|
|
NM_000257.4(MYH7):c.3110C>A (p.Ser1037Tyr)
|
rs1159928168
|
0.00001
|
|
NM_000257.4(MYH7):c.3138G>A (p.Met1046Ile)
|
rs201195256
|
0.00001
|
|
NM_000257.4(MYH7):c.3148C>T (p.Arg1050Ter)
|
rs730880767
|
0.00001
|
|
NM_000257.4(MYH7):c.3152C>T (p.Ala1051Val)
|
rs727504358
|
0.00001
|
|
NM_000257.4(MYH7):c.3198C>G (p.Ile1066Met)
|
rs1218107954
|
0.00001
|
|
NM_000257.4(MYH7):c.3225G>C (p.Gln1075His)
|
rs767369809
|
0.00001
|
|
NM_000257.4(MYH7):c.3235C>T (p.Arg1079Trp)
|
rs192722540
|
0.00001
|
|
NM_000257.4(MYH7):c.3241A>G (p.Lys1081Glu)
|
rs730880771
|
0.00001
|
|
NM_000257.4(MYH7):c.3242A>G (p.Lys1081Arg)
|
rs1566529102
|
0.00001
|
|
NM_000257.4(MYH7):c.3245+2T>G
|
rs113859723
|
0.00001
|
|
NM_000257.4(MYH7):c.3245+3A>T
|
rs727505355
|
0.00001
|
|
NM_000257.4(MYH7):c.325T>C (p.Tyr109His)
|
rs1415405257
|
0.00001
|
|
NM_000257.4(MYH7):c.3274G>A (p.Ala1092Thr)
|
rs772216320
|
0.00001
|
|
NM_000257.4(MYH7):c.328G>A (p.Gly110Ser)
|
rs763893822
|
0.00001
|
|
NM_000257.4(MYH7):c.3341G>A (p.Arg1114His)
|
rs730880773
|
0.00001
|
|
NM_000257.4(MYH7):c.3407G>A (p.Arg1136His)
|
rs730880905
|
0.00001
|
|
NM_000257.4(MYH7):c.343T>C (p.Tyr115His)
|
rs397516183
|
0.00001
|
|
NM_000257.4(MYH7):c.3455A>T (p.Glu1152Val)
|
rs397516184
|
0.00001
|
|
NM_000257.4(MYH7):c.3457G>A (p.Ala1153Thr)
|
rs774812187
|
0.00001
|
|
NM_000257.4(MYH7):c.3464G>A (p.Gly1155Glu)
|
rs397516186
|
0.00001
|
|
NM_000257.4(MYH7):c.3483C>G (p.Ile1161Met)
|
rs778909719
|
0.00001
|
|
NM_000257.4(MYH7):c.3487A>G (p.Met1163Val)
|
rs748972327
|
0.00001
|
|
NM_000257.4(MYH7):c.3500G>A (p.Arg1167His)
|
rs766412659
|
0.00001
|
|
NM_000257.4(MYH7):c.3551A>T (p.Gln1184Leu)
|
rs546586969
|
0.00001
|
|
NM_000257.4(MYH7):c.3589G>A (p.Ala1197Thr)
|
rs1487430775
|
0.00001
|
|
NM_000257.4(MYH7):c.3598G>A (p.Val1200Met)
|
rs375283149
|
0.00001
|
|
NM_000257.4(MYH7):c.3610G>C (p.Gly1204Arg)
|
rs397516188
|
0.00001
|
|
NM_000257.4(MYH7):c.3701A>C (p.Asn1234Thr)
|
rs745970387
|
0.00001
|
|
NM_000257.4(MYH7):c.3730A>C (p.Asn1244His)
|
rs200746981
|
0.00001
|
|
NM_000257.4(MYH7):c.3734T>A (p.Leu1245Gln)
|
rs397516192
|
0.00001
|
|
NM_000257.4(MYH7):c.3778C>T (p.Arg1260Trp)
|
rs755386220
|
0.00001
|
|
NM_000257.4(MYH7):c.3781A>C (p.Ser1261Arg)
|
rs193922389
|
0.00001
|
|
NM_000257.4(MYH7):c.3787G>A (p.Ala1263Thr)
|
rs1463884447
|
0.00001
|
|
NM_000257.4(MYH7):c.37G>A (p.Ala13Thr)
|
rs759231966
|
0.00001
|
|
NM_000257.4(MYH7):c.3801G>C (p.Gln1267His)
|
rs200000290
|
0.00001
|
|
NM_000257.4(MYH7):c.3828G>C (p.Gln1276His)
|
rs1892377170
|
0.00001
|
|
NM_000257.4(MYH7):c.3830G>A (p.Arg1277Gln)
|
rs397516195
|
0.00001
|
|
NM_000257.4(MYH7):c.3852T>C (p.Asn1284=)
|
rs45565337
|
0.00001
|
|
NM_000257.4(MYH7):c.3853+6C>A
|
rs373681246
|
0.00001
|
|
NM_000257.4(MYH7):c.3856G>A (p.Glu1286Lys)
|
rs397516196
|
0.00001
|
|
NM_000257.4(MYH7):c.3865C>T (p.Arg1289Trp)
|
rs180824037
|
0.00001
|
|
NM_000257.4(MYH7):c.3866G>A (p.Arg1289Gln)
|
rs1287612987
|
0.00001
|
|
NM_000257.4(MYH7):c.3883G>A (p.Glu1295Lys)
|
rs730880785
|
0.00001
|
|
NM_000257.4(MYH7):c.3977A>G (p.Lys1326Arg)
|
rs730880786
|
0.00001
|
|
NM_000257.4(MYH7):c.3994G>A (p.Ala1332Thr)
|
rs397516198
|
0.00001
|
|
NM_000257.4(MYH7):c.4004C>T (p.Ser1335Leu)
|
rs397516199
|
0.00001
|
|
NM_000257.4(MYH7):c.4009C>T (p.Arg1337Trp)
|
rs763326046
|
0.00001
|
|
NM_000257.4(MYH7):c.4021G>A (p.Asp1341Asn)
|
rs746724436
|
0.00001
|
|
NM_000257.4(MYH7):c.4023C>A (p.Asp1341Glu)
|
rs775285385
|
0.00001
|
|
NM_000257.4(MYH7):c.4042G>A (p.Glu1348Lys)
|
rs1275262402
|
0.00001
|
|
NM_000257.4(MYH7):c.4057G>T (p.Ala1353Ser)
|
rs1892314426
|
0.00001
|
|
NM_000257.4(MYH7):c.4102G>A (p.Val1368Met)
|
rs771892152
|
0.00001
|
|
NM_000257.4(MYH7):c.4132G>C (p.Asp1378His)
|
rs1158392172
|
0.00001
|
|
NM_000257.4(MYH7):c.4180G>A (p.Ala1394Thr)
|
rs751075815
|
0.00001
|
|
NM_000257.4(MYH7):c.4213G>A (p.Glu1405Lys)
|
rs1431555615
|
0.00001
|
|
NM_000257.4(MYH7):c.4219G>A (p.Val1407Ile)
|
rs730880795
|
0.00001
|
|
NM_000257.4(MYH7):c.4238C>T (p.Ser1413Leu)
|
rs730880796
|
0.00001
|
|
NM_000257.4(MYH7):c.430G>A (p.Gly144Ser)
|
rs1036184671
|
0.00001
|
|
NM_000257.4(MYH7):c.4321G>T (p.Ala1441Ser)
|
rs745414245
|
0.00001
|
|
NM_000257.4(MYH7):c.4343A>T (p.Asn1448Ile)
|
rs753484341
|
0.00001
|
|
NM_000257.4(MYH7):c.4353+6C>T
|
rs765398896
|
0.00001
|
|
NM_000257.4(MYH7):c.4364A>G (p.Glu1455Gly)
|
rs771377530
|
0.00001
|
|
NM_000257.4(MYH7):c.4373A>G (p.Gln1458Arg)
|
rs772562745
|
0.00001
|
|
NM_000257.4(MYH7):c.4388C>T (p.Ser1463Leu)
|
rs890401818
|
0.00001
|
|
NM_000257.4(MYH7):c.4394C>T (p.Ser1465Leu)
|
rs1033511138
|
0.00001
|
|
NM_000257.4(MYH7):c.4435A>G (p.Thr1479Ala)
|
rs752867429
|
0.00001
|
|
NM_000257.4(MYH7):c.4440G>T (p.Glu1480Asp)
|
rs1351661186
|
0.00001
|
|
NM_000257.4(MYH7):c.4450C>A (p.Leu1484Ile)
|
rs1555336651
|
0.00001
|
|
NM_000257.4(MYH7):c.4459G>A (p.Ala1487Thr)
|
rs766909770
|
0.00001
|
|
NM_000257.4(MYH7):c.445G>A (p.Glu149Lys)
|
rs773740053
|
0.00001
|
|
NM_000257.4(MYH7):c.4481A>T (p.His1494Leu)
|
rs727505329
|
0.00001
|
|
NM_000257.4(MYH7):c.4489A>T (p.Thr1497Ser)
|
rs928227757
|
0.00001
|
|
NM_000257.4(MYH7):c.4519+1G>C
|
rs876661374
|
0.00001
|
|
NM_000257.4(MYH7):c.4520-3C>T
|
rs549509054
|
0.00001
|
|
NM_000257.4(MYH7):c.4525A>C (p.Ile1509Leu)
|
rs397516221
|
0.00001
|
|
NM_000257.4(MYH7):c.4531G>A (p.Asp1511Asn)
|
rs1219074705
|
0.00001
|
|
NM_000257.4(MYH7):c.4588C>T (p.Arg1530Ter)
|
rs397516225
|
0.00001
|
|
NM_000257.4(MYH7):c.4717G>A (p.Glu1573Lys)
|
rs750987717
|
0.00001
|
|
NM_000257.4(MYH7):c.4763G>A (p.Arg1588His)
|
rs797044600
|
0.00001
|
|
NM_000257.4(MYH7):c.4775G>A (p.Arg1592Gln)
|
rs1257980330
|
0.00001
|
|
NM_000257.4(MYH7):c.4807G>A (p.Ala1603Thr)
|
rs730880809
|
0.00001
|
|
NM_000257.4(MYH7):c.4816C>T (p.Arg1606Cys)
|
rs200530211
|
0.00001
|
|
NM_000257.4(MYH7):c.4817G>A (p.Arg1606His)
|
rs373514686
|
0.00001
|
|
NM_000257.4(MYH7):c.4822C>T (p.Arg1608Cys)
|
rs746571601
|
0.00001
|
|
NM_000257.4(MYH7):c.4823G>A (p.Arg1608His)
|
rs587779391
|
0.00001
|
|
NM_000257.4(MYH7):c.4832C>T (p.Ala1611Val)
|
rs757090529
|
0.00001
|
|
NM_000257.4(MYH7):c.4864C>T (p.Leu1622Phe)
|
rs397516231
|
0.00001
|
|
NM_000257.4(MYH7):c.4941G>C (p.Gln1647His)
|
rs749154313
|
0.00001
|
|
NM_000257.4(MYH7):c.4949T>C (p.Leu1650Ser)
|
rs756142583
|
0.00001
|
|
NM_000257.4(MYH7):c.4953+5T>C
|
rs1008225259
|
0.00001
|
|
NM_000257.4(MYH7):c.4975G>A (p.Asp1659Asn)
|
rs267603953
|
0.00001
|
|
NM_000257.4(MYH7):c.4984C>T (p.Arg1662Cys)
|
rs773977507
|
0.00001
|
|
NM_000257.4(MYH7):c.4993G>A (p.Asp1665Asn)
|
rs769528619
|
0.00001
|
|
NM_000257.4(MYH7):c.5011A>G (p.Ile1671Val)
|
rs1456418703
|
0.00001
|
|
NM_000257.4(MYH7):c.5014G>A (p.Ala1672Thr)
|
rs550015662
|
0.00001
|
|
NM_000257.4(MYH7):c.5026C>T (p.Arg1676Trp)
|
rs753115999
|
0.00001
|
|
NM_000257.4(MYH7):c.5027G>A (p.Arg1676Gln)
|
rs1451176863
|
0.00001
|
|
NM_000257.4(MYH7):c.503-3C>T
|
rs1345179367
|
0.00001
|
|
NM_000257.4(MYH7):c.5030G>A (p.Arg1677His)
|
rs730880914
|
0.00001
|
|
NM_000257.4(MYH7):c.5032A>C (p.Asn1678His)
|
rs752021154
|
0.00001
|
|
NM_000257.4(MYH7):c.5037C>G (p.Asn1679Lys)
|
rs1358888752
|
0.00001
|
|
NM_000257.4(MYH7):c.5065C>T (p.Arg1689Cys)
|
rs730880915
|
0.00001
|
|
NM_000257.4(MYH7):c.5066G>A (p.Arg1689His)
|
rs772008016
|
0.00001
|
|
NM_000257.4(MYH7):c.5089C>T (p.Arg1697Trp)
|
rs1282833804
|
0.00001
|
|
NM_000257.4(MYH7):c.50G>A (p.Arg17His)
|
rs727503280
|
0.00001
|
|
NM_000257.4(MYH7):c.5129G>C (p.Ser1710Thr)
|
rs869279274
|
0.00001
|
|
NM_000257.4(MYH7):c.5130T>G (p.Ser1710Arg)
|
rs771954434
|
0.00001
|
|
NM_000257.4(MYH7):c.5157G>A (p.Gln1719=)
|
rs769875223
|
0.00001
|
|
NM_000257.4(MYH7):c.5167C>T (p.Leu1723Phe)
|
rs1566523027
|
0.00001
|
|
NM_000257.4(MYH7):c.5191G>A (p.Asp1731Asn)
|
rs876657885
|
0.00001
|
|
NM_000257.4(MYH7):c.5203T>A (p.Ser1735Thr)
|
rs144066768
|
0.00001
|
|
NM_000257.4(MYH7):c.5216C>T (p.Thr1739Ile)
|
rs1469341108
|
0.00001
|
|
NM_000257.4(MYH7):c.5229G>T (p.Glu1743Asp)
|
rs149509691
|
0.00001
|
|
NM_000257.4(MYH7):c.5251G>A (p.Ala1751Thr)
|
rs1892151210
|
0.00001
|
|
NM_000257.4(MYH7):c.5272G>T (p.Ala1758Ser)
|
rs878853839
|
0.00001
|
|
NM_000257.4(MYH7):c.5284-3C>T
|
rs759821521
|
0.00001
|
|
NM_000257.4(MYH7):c.5293A>G (p.Met1765Val)
|
rs770165807
|
0.00001
|
|
NM_000257.4(MYH7):c.530+1G>A
|
rs112447523
|
0.00001
|
|
NM_000257.4(MYH7):c.530C>T (p.Thr177Ile)
|
rs752930302
|
0.00001
|
|
NM_000257.4(MYH7):c.532G>A (p.Gly178Arg)
|
rs730880156
|
0.00001
|
|
NM_000257.4(MYH7):c.5341C>T (p.Arg1781Cys)
|
rs397516245
|
0.00001
|
|
NM_000257.4(MYH7):c.5386C>T (p.Arg1796Trp)
|
rs748598020
|
0.00001
|
|
NM_000257.4(MYH7):c.5387G>A (p.Arg1796Gln)
|
rs1433063251
|
0.00001
|
|
NM_000257.4(MYH7):c.5419G>A (p.Gly1807Ser)
|
rs745729408
|
0.00001
|
|
NM_000257.4(MYH7):c.541G>A (p.Gly181Arg)
|
rs760187215
|
0.00001
|
|
NM_000257.4(MYH7):c.5450C>T (p.Ala1817Val)
|
rs1469786429
|
0.00001
|
|
NM_000257.4(MYH7):c.5452C>T (p.Arg1818Trp)
|
rs763073072
|
0.00001
|
|
NM_000257.4(MYH7):c.5453G>A (p.Arg1818Gln)
|
rs730880819
|
0.00001
|
|
NM_000257.4(MYH7):c.5500G>A (p.Ala1834Thr)
|
rs143362532
|
0.00001
|
|
NM_000257.4(MYH7):c.550A>C (p.Lys184Gln)
|
rs730880843
|
0.00001
|
|
NM_000257.4(MYH7):c.5519T>C (p.Met1840Thr)
|
rs149193520
|
0.00001
|
|
NM_000257.4(MYH7):c.5527A>G (p.Ser1843Gly)
|
rs200157204
|
0.00001
|
|
NM_000257.4(MYH7):c.5530G>A (p.Glu1844Lys)
|
rs730880821
|
0.00001
|
|
NM_000257.4(MYH7):c.5536C>T (p.Arg1846Cys)
|
rs12590294
|
0.00001
|
|
NM_000257.4(MYH7):c.5559+6A>G
|
rs781124375
|
0.00001
|
|
NM_000257.4(MYH7):c.5559G>A (p.Gln1853=)
|
rs777694317
|
0.00001
|
|
NM_000257.4(MYH7):c.5587C>T (p.Arg1863Trp)
|
rs376668612
|
0.00001
|
|
NM_000257.4(MYH7):c.5606A>G (p.Asp1869Gly)
|
rs730880824
|
0.00001
|
|
NM_000257.4(MYH7):c.5639G>A (p.Arg1880His)
|
rs867477685
|
0.00001
|
|
NM_000257.4(MYH7):c.5647G>A (p.Glu1883Lys)
|
rs121913652
|
0.00001
|
|
NM_000257.4(MYH7):c.5671A>G (p.Thr1891Ala)
|
rs1295948508
|
0.00001
|
|
NM_000257.4(MYH7):c.5687T>G (p.Phe1896Cys)
|
rs778562229
|
0.00001
|
|
NM_000257.4(MYH7):c.5729C>T (p.Ala1910Val)
|
rs1454105335
|
0.00001
|
|
NM_000257.4(MYH7):c.5737G>A (p.Ala1913Thr)
|
rs747451109
|
0.00001
|
|
NM_000257.4(MYH7):c.5749G>T (p.Val1917Phe)
|
rs397516255
|
0.00001
|
|
NM_000257.4(MYH7):c.5757G>C (p.Lys1919Asn)
|
rs1343372308
|
0.00001
|
|
NM_000257.4(MYH7):c.5765C>T (p.Ala1922Val)
|
rs777524474
|
0.00001
|
|
NM_000257.4(MYH7):c.5774G>A (p.Arg1925His)
|
rs752553589
|
0.00001
|
|
NM_000257.4(MYH7):c.601A>T (p.Ile201Phe)
|
rs747136781
|
0.00001
|
|
NM_000257.4(MYH7):c.664C>A (p.Gln222Lys)
|
rs1060501445
|
0.00001
|
|
NM_000257.4(MYH7):c.68G>A (p.Arg23Gln)
|
rs1169518192
|
0.00001
|
|
NM_000257.4(MYH7):c.76G>A (p.Ala26Thr)
|
rs775643803
|
0.00001
|
|
NM_000257.4(MYH7):c.794C>A (p.Thr265Asn)
|
rs876661375
|
0.00001
|
|
NM_000257.4(MYH7):c.821T>C (p.Ile274Thr)
|
rs773456019
|
0.00001
|
|
NM_000257.4(MYH7):c.853A>G (p.Ile285Val)
|
rs748692506
|
0.00001
|
|
NM_000257.4(MYH7):c.91T>C (p.Phe31Leu)
|
rs757655773
|
0.00001
|
|
NM_000257.4(MYH7):c.969T>G (p.Ile323Met)
|
rs730880861
|
0.00001
|
|
NM_000257.4(MYH7):c.990G>T (p.Met330Ile)
|
rs1085307549
|
0.00001
|
|
NM_000258.3(MYL3):c.147G>T (p.Glu49Asp)
|
rs1004231349
|
0.00001
|
|
NM_000258.3(MYL3):c.178C>G (p.Leu60Val)
|
rs1367233580
|
0.00001
|
|
NM_000258.3(MYL3):c.188G>A (p.Arg63His)
|
rs139354105
|
0.00001
|
|
NM_000258.3(MYL3):c.220G>A (p.Gly74Arg)
|
rs730880956
|
0.00001
|
|
NM_000258.3(MYL3):c.235G>A (p.Val79Ile)
|
rs150634297
|
0.00001
|
|
NM_000258.3(MYL3):c.241C>T (p.Arg81Trp)
|
rs761891361
|
0.00001
|
|
NM_000258.3(MYL3):c.256A>T (p.Asn86Tyr)
|
rs1257328187
|
0.00001
|
|
NM_000258.3(MYL3):c.26A>G (p.Lys9Arg)
|
rs1025864971
|
0.00001
|
|
NM_000258.3(MYL3):c.301C>G (p.Gln101Glu)
|
rs747691982
|
0.00001
|
|
NM_000258.3(MYL3):c.307G>A (p.Glu103Lys)
|
rs1479071663
|
0.00001
|
|
NM_000258.3(MYL3):c.32A>T (p.Asp11Val)
|
rs1227232995
|
0.00001
|
|
NM_000258.3(MYL3):c.347C>T (p.Pro116Leu)
|
rs777888933
|
0.00001
|
|
NM_000258.3(MYL3):c.350T>C (p.Met117Thr)
|
rs1353091311
|
0.00001
|
|
NM_000258.3(MYL3):c.392A>G (p.Glu131Gly)
|
rs1372665221
|
0.00001
|
|
NM_000258.3(MYL3):c.410dup (p.Arg138fs)
|
rs745346844
|
0.00001
|
|
NM_000258.3(MYL3):c.433A>G (p.Asn145Asp)
|
rs1204710752
|
0.00001
|
|
NM_000258.3(MYL3):c.47C>T (p.Ala16Val)
|
rs754871327
|
0.00001
|
|
NM_000258.3(MYL3):c.517A>G (p.Met173Val)
|
rs199474708
|
0.00001
|
|
NM_000258.3(MYL3):c.557A>C (p.Glu186Ala)
|
rs374329098
|
0.00001
|
|
NM_000258.3(MYL3):c.575dup (p.Met193fs)
|
rs757730888
|
0.00001
|
|
NM_000258.3(MYL3):c.70G>A (p.Ala24Thr)
|
rs758048820
|
0.00001
|
|
NM_000258.3(MYL3):c.71C>T (p.Ala24Val)
|
rs373278317
|
0.00001
|
|
NM_000258.3(MYL3):c.73C>T (p.Pro25Ser)
|
rs369256548
|
0.00001
|
|
NM_000258.3(MYL3):c.79C>T (p.Pro27Ser)
|
rs1248338056
|
0.00001
|
|
NM_000258.3(MYL3):c.82G>A (p.Glu28Lys)
|
rs754220375
|
0.00001
|
|
NM_000337.6(SGCD):c.190A>G (p.Ile64Val)
|
rs753808210
|
0.00001
|
|
NM_000337.6(SGCD):c.194A>G (p.Asp65Gly)
|
rs769883857
|
0.00001
|
|
NM_000337.6(SGCD):c.19T>C (p.Tyr7His)
|
rs1561633494
|
0.00001
|
|
NM_000337.6(SGCD):c.296G>A (p.Gly99Asp)
|
rs955284985
|
0.00001
|
|
NM_000337.6(SGCD):c.31C>T (p.Arg11Trp)
|
rs566181541
|
0.00001
|
|
NM_000337.6(SGCD):c.340A>G (p.Ile114Val)
|
rs760206240
|
0.00001
|
|
NM_000337.6(SGCD):c.352C>A (p.Gln118Lys)
|
rs748107425
|
0.00001
|
|
NM_000337.6(SGCD):c.354G>T (p.Gln118His)
|
rs770930747
|
0.00001
|
|
NM_000337.6(SGCD):c.359A>C (p.Lys120Thr)
|
rs1385323214
|
0.00001
|
|
NM_000337.6(SGCD):c.35G>A (p.Ser12Asn)
|
rs1449665448
|
0.00001
|
|
NM_000337.6(SGCD):c.421G>T (p.Val141Leu)
|
rs1382070084
|
0.00001
|
|
NM_000337.6(SGCD):c.434C>G (p.Ser145Cys)
|
rs1324593212
|
0.00001
|
|
NM_000337.6(SGCD):c.461A>G (p.Asn154Ser)
|
rs759767804
|
0.00001
|
|
NM_000337.6(SGCD):c.475G>A (p.Val159Ile)
|
rs370327314
|
0.00001
|
|
NM_000337.6(SGCD):c.506C>T (p.Ala169Val)
|
rs876658001
|
0.00001
|
|
NM_000337.6(SGCD):c.532A>G (p.Ile178Val)
|
rs1200525320
|
0.00001
|
|
NM_000337.6(SGCD):c.547G>A (p.Val183Ile)
|
rs751421543
|
0.00001
|
|
NM_000337.6(SGCD):c.559C>T (p.Pro187Ser)
|
rs769250018
|
0.00001
|
|
NM_000337.6(SGCD):c.592C>T (p.Arg198Trp)
|
rs561825515
|
0.00001
|
|
NM_000337.6(SGCD):c.632A>G (p.Asn211Ser)
|
rs794727901
|
0.00001
|
|
NM_000337.6(SGCD):c.699+3G>A
|
rs1757394496
|
0.00001
|
|
NM_000337.6(SGCD):c.715G>A (p.Ala239Thr)
|
rs373871327
|
0.00001
|
|
NM_000337.6(SGCD):c.761C>A (p.Thr254Lys)
|
rs372607729
|
0.00001
|
|
NM_000337.6(SGCD):c.799G>A (p.Ala267Thr)
|
rs772799792
|
0.00001
|
|
NM_000337.6(SGCD):c.821C>T (p.Ser274Phe)
|
rs768051118
|
0.00001
|
|
NM_000363.5(TNNI3):c.150G>A (p.Lys50=)
|
rs730881086
|
0.00001
|
|
NM_000363.5(TNNI3):c.164A>C (p.Gln55Pro)
|
rs775512887
|
0.00001
|
|
NM_000363.5(TNNI3):c.167T>C (p.Ile56Thr)
|
rs545441942
|
0.00001
|
|
NM_000363.5(TNNI3):c.217G>C (p.Gly73Arg)
|
rs1170054667
|
0.00001
|
|
NM_000363.5(TNNI3):c.24+2T>A
|
rs777702465
|
0.00001
|
|
NM_000363.5(TNNI3):c.24+6A>G
|
rs1178267975
|
0.00001
|
|
NM_000363.5(TNNI3):c.25-6A>G
|
rs760978520
|
0.00001
|
|
NM_000363.5(TNNI3):c.278T>C (p.Leu93Pro)
|
rs776035548
|
0.00001
|
|
NM_000363.5(TNNI3):c.282+6G>C
|
rs1210217999
|
0.00001
|
|
NM_000363.5(TNNI3):c.307C>T (p.Arg103Cys)
|
rs397516344
|
0.00001
|
|
NM_000363.5(TNNI3):c.322G>A (p.Asp108Asn)
|
rs766958196
|
0.00001
|
|
NM_000363.5(TNNI3):c.331A>G (p.Arg111Gly)
|
rs730881088
|
0.00001
|
|
NM_000363.5(TNNI3):c.340A>G (p.Ile114Val)
|
rs730881070
|
0.00001
|
|
NM_000363.5(TNNI3):c.341T>C (p.Ile114Thr)
|
rs762692450
|
0.00001
|
|
NM_000363.5(TNNI3):c.35C>T (p.Pro12Leu)
|
rs768052584
|
0.00001
|
|
NM_000363.5(TNNI3):c.368C>T (p.Thr123Met)
|
rs397516345
|
0.00001
|
|
NM_000363.5(TNNI3):c.416T>G (p.Phe139Cys)
|
rs1462112345
|
0.00001
|
|
NM_000363.5(TNNI3):c.421C>T (p.Arg141Trp)
|
rs730881071
|
0.00001
|
|
NM_000363.5(TNNI3):c.428C>A (p.Thr143Asn)
|
rs397516348
|
0.00001
|
|
NM_000363.5(TNNI3):c.463A>G (p.Met155Val)
|
rs730881074
|
0.00001
|
|
NM_000363.5(TNNI3):c.482C>T (p.Ala161Val)
|
rs753413305
|
0.00001
|
|
NM_000363.5(TNNI3):c.493G>T (p.Glu165Ter)
|
rs1057521530
|
0.00001
|
|
NM_000363.5(TNNI3):c.52C>A (p.Pro18Thr)
|
rs779416591
|
0.00001
|
|
NM_000363.5(TNNI3):c.55A>G (p.Ile19Val)
|
rs755862334
|
0.00001
|
|
NM_000363.5(TNNI3):c.561G>T (p.Glu187Asp)
|
rs773184959
|
0.00001
|
|
NM_000363.5(TNNI3):c.620A>G (p.Lys207Arg)
|
rs367672692
|
0.00001
|
|
NM_000363.5(TNNI3):c.632G>T (p.Ter211Leu)
|
rs730881084
|
0.00001
|
|
NM_000371.4(TTR):c.127A>C (p.Ser43Arg)
|
rs11541800
|
0.00001
|
|
NM_000371.4(TTR):c.136A>G (p.Ile46Val)
|
rs773584864
|
0.00001
|
|
NM_000371.4(TTR):c.137T>C (p.Ile46Thr)
|
rs1598844137
|
0.00001
|
|
NM_000371.4(TTR):c.151C>A (p.His51Asn)
|
rs915983905
|
0.00001
|
|
NM_000371.4(TTR):c.170C>A (p.Ala57Asp)
|
rs1294297409
|
0.00001
|
|
NM_000371.4(TTR):c.200+4A>G
|
rs751512499
|
0.00001
|
|
NM_000371.4(TTR):c.227A>G (p.His76Arg)
|
rs78230119
|
0.00001
|
|
NM_000371.4(TTR):c.246G>C (p.Glu82Asp)
|
rs754635255
|
0.00001
|
|
NM_000371.4(TTR):c.25C>T (p.Leu9Phe)
|
rs762243340
|
0.00001
|
|
NM_000371.4(TTR):c.263T>C (p.Ile88Thr)
|
rs1567946180
|
0.00001
|
|
NM_000371.4(TTR):c.314C>T (p.Ser105Phe)
|
rs1322942118
|
0.00001
|
|
NM_000371.4(TTR):c.336+5G>A
|
rs2073511528
|
0.00001
|
|
NM_000371.4(TTR):c.337-3T>C
|
rs774027595
|
0.00001
|
|
NM_000371.4(TTR):c.367C>T (p.Arg123Cys)
|
rs371566010
|
0.00001
|
|
NM_000371.4(TTR):c.406T>C (p.Tyr136His)
|
rs766909913
|
0.00001
|
|
NM_000371.4(TTR):c.65C>T (p.Pro22Leu)
|
rs1215630426
|
0.00001
|
|
NM_000371.4(TTR):c.68C>T (p.Thr23Met)
|
rs377052919
|
0.00001
|
|
NM_000371.4(TTR):c.69+5G>C
|
rs1221178462
|
0.00001
|
|
NM_000371.4(TTR):c.69G>A (p.Thr23=)
|
rs752579437
|
0.00001
|
|
NM_000432.4(MYL2):c.125G>A (p.Gly42Asp)
|
rs863225117
|
0.00001
|
|
NM_000432.4(MYL2):c.142G>A (p.Asp48Asn)
|
rs727504405
|
0.00001
|
|
NM_000432.4(MYL2):c.170-1G>A
|
rs1566148738
|
0.00001
|
|
NM_000432.4(MYL2):c.170G>A (p.Gly57Glu)
|
rs199474809
|
0.00001
|
|
NM_000432.4(MYL2):c.206T>C (p.Met69Thr)
|
rs2071674449
|
0.00001
|
|
NM_000432.4(MYL2):c.221C>T (p.Pro74Leu)
|
rs942467544
|
0.00001
|
|
NM_000432.4(MYL2):c.229A>G (p.Ile77Val)
|
rs373475989
|
0.00001
|
|
NM_000432.4(MYL2):c.255G>A (p.Met85Ile)
|
rs1385880379
|
0.00001
|
|
NM_000432.4(MYL2):c.257T>C (p.Phe86Ser)
|
rs730880950
|
0.00001
|
|
NM_000432.4(MYL2):c.278C>T (p.Ala93Val)
|
rs774193307
|
0.00001
|
|
NM_000432.4(MYL2):c.28G>A (p.Ala10Thr)
|
rs730880942
|
0.00001
|
|
NM_000432.4(MYL2):c.31G>A (p.Gly11Arg)
|
rs397516402
|
0.00001
|
|
NM_000432.4(MYL2):c.34G>T (p.Gly12Cys)
|
rs730880937
|
0.00001
|
|
NM_000432.4(MYL2):c.354C>T (p.Tyr118=)
|
rs750193844
|
0.00001
|
|
NM_000432.4(MYL2):c.358C>G (p.Arg120Gly)
|
rs397516404
|
0.00001
|
|
NM_000432.4(MYL2):c.3G>A (p.Met1Ile)
|
rs1555258369
|
0.00001
|
|
NM_000432.4(MYL2):c.403-6T>C
|
rs763332557
|
0.00001
|
|
NM_000432.4(MYL2):c.413T>A (p.Met138Lys)
|
rs748760581
|
0.00001
|
|
NM_000432.4(MYL2):c.422C>A (p.Ala141Asp)
|
rs1024307408
|
0.00001
|
|
NM_000432.4(MYL2):c.427C>A (p.Pro143Thr)
|
rs1555257600
|
0.00001
|
|
NM_000432.4(MYL2):c.428C>T (p.Pro143Leu)
|
rs727504341
|
0.00001
|
|
NM_000432.4(MYL2):c.472A>G (p.Ile158Val)
|
rs2071648139
|
0.00001
|
|
NM_000432.4(MYL2):c.4G>T (p.Ala2Ser)
|
rs1060499882
|
0.00001
|
|
NM_000475.5(NR0B1):c.1121G>A (p.Ser374Asn)
|
rs1213986618
|
0.00001
|
|
NM_001005242.3(PKP2):c.1024T>C (p.Ser342Pro)
|
rs563797120
|
0.00001
|
|
NM_001005242.3(PKP2):c.1025C>T (p.Ser342Phe)
|
rs1282672078
|
0.00001
|
|
NM_001005242.3(PKP2):c.1069G>A (p.Val357Met)
|
rs766334171
|
0.00001
|
|
NM_001005242.3(PKP2):c.1091A>T (p.His364Leu)
|
rs763114466
|
0.00001
|
|
NM_001005242.3(PKP2):c.1095G>A (p.Met365Ile)
|
rs770333863
|
0.00001
|
|
NM_001005242.3(PKP2):c.1106G>A (p.Arg369Lys)
|
rs771293688
|
0.00001
|
|
NM_001005242.3(PKP2):c.110A>G (p.Lys37Arg)
|
rs781400459
|
0.00001
|
|
NM_001005242.3(PKP2):c.1129A>G (p.Ile377Val)
|
rs1565596114
|
0.00001
|
|
NM_001005242.3(PKP2):c.1130T>C (p.Ile377Thr)
|
rs397516985
|
0.00001
|
|
NM_001005242.3(PKP2):c.1138G>A (p.Glu380Lys)
|
rs878898365
|
0.00001
|
|
NM_001005242.3(PKP2):c.1163G>A (p.Arg388Gln)
|
rs756000218
|
0.00001
|
|
NM_001005242.3(PKP2):c.1181T>A (p.Leu394His)
|
rs766842360
|
0.00001
|
|
NM_001005242.3(PKP2):c.1231G>A (p.Val411Ile)
|
rs192041220
|
0.00001
|
|
NM_001005242.3(PKP2):c.1292T>C (p.Leu431Ser)
|
rs143397927
|
0.00001
|
|
NM_001005242.3(PKP2):c.1312G>A (p.Gly438Arg)
|
rs1956689163
|
0.00001
|
|
NM_001005242.3(PKP2):c.1321C>T (p.Arg441Trp)
|
rs755233999
|
0.00001
|
|
NM_001005242.3(PKP2):c.1367A>C (p.Lys456Thr)
|
rs750897570
|
0.00001
|
|
NM_001005242.3(PKP2):c.1379-1983C>G
|
rs377000496
|
0.00001
|
|
NM_001005242.3(PKP2):c.1379-2028C>A
|
rs752119095
|
0.00001
|
|
NM_001005242.3(PKP2):c.1379-2033G>A
|
rs757689437
|
0.00001
|
|
NM_001005242.3(PKP2):c.1379-2051G>A
|
rs1408803372
|
0.00001
|
|
NM_001005242.3(PKP2):c.1379-2055G>A
|
rs920363668
|
0.00001
|
|
NM_001005242.3(PKP2):c.1379-2111C>T
|
rs1172703594
|
0.00001
|
|
NM_001005242.3(PKP2):c.1394T>C (p.Leu465Ser)
|
rs374163198
|
0.00001
|
|
NM_001005242.3(PKP2):c.1426A>G (p.Ile476Val)
|
rs763749576
|
0.00001
|
|
NM_001005242.3(PKP2):c.1429A>G (p.Thr477Ala)
|
rs775192286
|
0.00001
|
|
NM_001005242.3(PKP2):c.1457A>T (p.Asn486Ile)
|
rs780349259
|
0.00001
|
|
NM_001005242.3(PKP2):c.1492G>A (p.Asp498Asn)
|
rs879068263
|
0.00001
|
|
NM_001005242.3(PKP2):c.149C>T (p.Thr50Ile)
|
rs1402887591
|
0.00001
|
|
NM_001005242.3(PKP2):c.14G>A (p.Gly5Asp)
|
rs774778142
|
0.00001
|
|
NM_001005242.3(PKP2):c.154A>G (p.Lys52Glu)
|
rs920017662
|
0.00001
|
|
NM_001005242.3(PKP2):c.1557-7del
|
rs1258853212
|
0.00001
|
|
NM_001005242.3(PKP2):c.158G>A (p.Ser53Asn)
|
rs776363973
|
0.00001
|
|
NM_001005242.3(PKP2):c.1604G>A (p.Cys535Tyr)
|
rs1956409874
|
0.00001
|
|
NM_001005242.3(PKP2):c.1711T>A (p.Ser571Thr)
|
rs768286281
|
0.00001
|
|
NM_001005242.3(PKP2):c.1748C>G (p.Ser583Cys)
|
rs769817013
|
0.00001
|
|
NM_001005242.3(PKP2):c.1757T>C (p.Ile586Thr)
|
rs397517011
|
0.00001
|
|
NM_001005242.3(PKP2):c.1760A>G (p.Tyr587Cys)
|
rs1060501183
|
0.00001
|
|
NM_001005242.3(PKP2):c.1762A>G (p.Ile588Val)
|
rs1169362109
|
0.00001
|
|
NM_001005242.3(PKP2):c.1772G>A (p.Arg591Gln)
|
rs755076586
|
0.00001
|
|
NM_001005242.3(PKP2):c.1784C>A (p.Thr595Asn)
|
rs1354122232
|
0.00001
|
|
NM_001005242.3(PKP2):c.1896G>T (p.Trp632Cys)
|
rs193922673
|
0.00001
|
|
NM_001005242.3(PKP2):c.1920G>T (p.Arg640Ser)
|
rs760660042
|
0.00001
|
|
NM_001005242.3(PKP2):c.1939G>A (p.Ala647Thr)
|
rs759920696
|
0.00001
|
|
NM_001005242.3(PKP2):c.1985T>C (p.Leu662Pro)
|
rs878854709
|
0.00001
|
|
NM_001005242.3(PKP2):c.1989G>T (p.Gln663His)
|
rs765884775
|
0.00001
|
|
NM_001005242.3(PKP2):c.2013+3G>A
|
rs1222272381
|
0.00001
|
|
NM_001005242.3(PKP2):c.2017C>T (p.Pro673Ser)
|
rs757205704
|
0.00001
|
|
NM_001005242.3(PKP2):c.2030C>T (p.Ala677Val)
|
rs1359431679
|
0.00001
|
|
NM_001005242.3(PKP2):c.2071C>G (p.Arg691Gly)
|
rs121434421
|
0.00001
|
|
NM_001005242.3(PKP2):c.212C>T (p.Ser71Phe)
|
rs796597346
|
0.00001
|
|
NM_001005242.3(PKP2):c.2159A>G (p.Asn720Ser)
|
rs767496004
|
0.00001
|
|
NM_001005242.3(PKP2):c.2176A>T (p.Thr726Ser)
|
rs1249551566
|
0.00001
|
|
NM_001005242.3(PKP2):c.2200A>G (p.Ile734Val)
|
rs556563706
|
0.00001
|
|
NM_001005242.3(PKP2):c.2213T>C (p.Val738Ala)
|
rs1555141066
|
0.00001
|
|
NM_001005242.3(PKP2):c.2216C>T (p.Pro739Leu)
|
rs758834771
|
0.00001
|
|
NM_001005242.3(PKP2):c.222C>A (p.Asn74Lys)
|
rs753180642
|
0.00001
|
|
NM_001005242.3(PKP2):c.2246C>A (p.Ala749Asp)
|
rs727504950
|
0.00001
|
|
NM_001005242.3(PKP2):c.224G>A (p.Gly75Glu)
|
rs267603443
|
0.00001
|
|
NM_001005242.3(PKP2):c.2282A>G (p.Asn761Ser)
|
rs1488359220
|
0.00001
|
|
NM_001005242.3(PKP2):c.2300G>A (p.Arg767His)
|
rs533884071
|
0.00001
|
|
NM_001005242.3(PKP2):c.2317G>A (p.Gly773Arg)
|
rs766775778
|
0.00001
|
|
NM_001005242.3(PKP2):c.2356G>C (p.Ala786Pro)
|
rs768463319
|
0.00001
|
|
NM_001005242.3(PKP2):c.2363C>T (p.Ala788Val)
|
rs763663760
|
0.00001
|
|
NM_001005242.3(PKP2):c.2411G>C (p.Trp804Ser)
|
rs117425357
|
0.00001
|
|
NM_001005242.3(PKP2):c.2428C>T (p.His810Tyr)
|
rs397517023
|
0.00001
|
|
NM_001005242.3(PKP2):c.2438A>T (p.Tyr813Phe)
|
rs751287217
|
0.00001
|
|
NM_001005242.3(PKP2):c.2471T>A (p.Val824Asp)
|
rs752195586
|
0.00001
|
|
NM_001005242.3(PKP2):c.2479C>T (p.Arg827Trp)
|
rs754873048
|
0.00001
|
|
NM_001005242.3(PKP2):c.298G>A (p.Gly100Ser)
|
rs769509055
|
0.00001
|
|
NM_001005242.3(PKP2):c.29A>G (p.Tyr10Cys)
|
rs1181973282
|
0.00001
|
|
NM_001005242.3(PKP2):c.301C>T (p.Arg101Cys)
|
rs796827562
|
0.00001
|
|
NM_001005242.3(PKP2):c.35A>G (p.Tyr12Cys)
|
rs763433296
|
0.00001
|
|
NM_001005242.3(PKP2):c.374G>A (p.Arg125Lys)
|
rs1278479150
|
0.00001
|
|
NM_001005242.3(PKP2):c.409G>A (p.Glu137Lys)
|
rs781739949
|
0.00001
|
|
NM_001005242.3(PKP2):c.414A>T (p.Glu138Asp)
|
rs771153426
|
0.00001
|
|
NM_001005242.3(PKP2):c.454C>T (p.Pro152Ser)
|
rs972806409
|
0.00001
|
|
NM_001005242.3(PKP2):c.462C>G (p.Ser154Arg)
|
rs397517026
|
0.00001
|
|
NM_001005242.3(PKP2):c.467C>T (p.Pro156Leu)
|
rs766360871
|
0.00001
|
|
NM_001005242.3(PKP2):c.484A>G (p.Thr162Ala)
|
rs765195368
|
0.00001
|
|
NM_001005242.3(PKP2):c.485C>T (p.Thr162Met)
|
rs759687672
|
0.00001
|
|
NM_001005242.3(PKP2):c.493G>A (p.Asp165Asn)
|
rs886049322
|
0.00001
|
|
NM_001005242.3(PKP2):c.530C>A (p.Thr177Asn)
|
rs779467662
|
0.00001
|
|
NM_001005242.3(PKP2):c.536A>G (p.His179Arg)
|
rs1371222715
|
0.00001
|
|
NM_001005242.3(PKP2):c.553C>T (p.Arg185Trp)
|
rs571569344
|
0.00001
|
|
NM_001005242.3(PKP2):c.554G>A (p.Arg185Gln)
|
rs765477952
|
0.00001
|
|
NM_001005242.3(PKP2):c.559G>A (p.Ala187Thr)
|
rs200095747
|
0.00001
|
|
NM_001005242.3(PKP2):c.575C>T (p.Pro192Leu)
|
rs748566573
|
0.00001
|
|
NM_001005242.3(PKP2):c.598G>A (p.Val200Met)
|
rs369923216
|
0.00001
|
|
NM_001005242.3(PKP2):c.610C>T (p.Arg204Cys)
|
rs777497296
|
0.00001
|
|
NM_001005242.3(PKP2):c.688G>A (p.Val230Ile)
|
rs543281875
|
0.00001
|
|
NM_001005242.3(PKP2):c.713C>T (p.Pro238Leu)
|
rs560220280
|
0.00001
|
|
NM_001005242.3(PKP2):c.746G>A (p.Ser249Asn)
|
rs1085307949
|
0.00001
|
|
NM_001005242.3(PKP2):c.748C>T (p.Arg250Cys)
|
rs577631447
|
0.00001
|
|
NM_001005242.3(PKP2):c.784C>A (p.Leu262Met)
|
rs199701968
|
0.00001
|
|
NM_001005242.3(PKP2):c.788C>T (p.Thr263Met)
|
rs543758984
|
0.00001
|
|
NM_001005242.3(PKP2):c.830T>C (p.Leu277Pro)
|
rs772827289
|
0.00001
|
|
NM_001005242.3(PKP2):c.838G>A (p.Val280Ile)
|
rs748148237
|
0.00001
|
|
NM_001005242.3(PKP2):c.854C>T (p.Ala285Val)
|
rs372664096
|
0.00001
|
|
NM_001005242.3(PKP2):c.878G>C (p.Ser293Thr)
|
rs1323074715
|
0.00001
|
|
NM_001005242.3(PKP2):c.8C>T (p.Ala3Val)
|
rs1033569962
|
0.00001
|
|
NM_001005242.3(PKP2):c.914G>A (p.Gly305Glu)
|
rs146683466
|
0.00001
|
|
NM_001005242.3(PKP2):c.925G>A (p.Ala309Thr)
|
rs761677945
|
0.00001
|
|
NM_001005242.3(PKP2):c.931G>C (p.Asp311His)
|
rs1956947554
|
0.00001
|
|
NM_001005242.3(PKP2):c.934T>G (p.Ser312Ala)
|
rs756604557
|
0.00001
|
|
NM_001005242.3(PKP2):c.941G>A (p.Gly314Glu)
|
rs139903989
|
0.00001
|
|
NM_001005242.3(PKP2):c.958A>G (p.Thr320Ala)
|
rs879225885
|
0.00001
|
|
NM_001018005.2(TPM1):c.104G>C (p.Arg35Thr)
|
rs730881152
|
0.00001
|
|
NM_001018005.2(TPM1):c.105G>C (p.Arg35Ser)
|
rs1448738061
|
0.00001
|
|
NM_001018005.2(TPM1):c.106A>G (p.Ser36Gly)
|
rs1566936237
|
0.00001
|
|
NM_001018005.2(TPM1):c.114+3C>T
|
rs112677344
|
0.00001
|
|
NM_001018005.2(TPM1):c.114+4T>C
|
rs745777320
|
0.00001
|
|
NM_001018005.2(TPM1):c.115-5C>G
|
rs753196985
|
0.00001
|
|
NM_001018005.2(TPM1):c.118G>T (p.Glu40Ter)
|
rs104894501
|
0.00001
|
|
NM_001018005.2(TPM1):c.302G>A (p.Arg101His)
|
rs747907799
|
0.00001
|
|
NM_001018005.2(TPM1):c.314G>A (p.Arg105His)
|
rs773149185
|
0.00001
|
|
NM_001018005.2(TPM1):c.511A>G (p.Ile171Val)
|
rs774903903
|
0.00001
|
|
NM_001018005.2(TPM1):c.564-9A>G
|
rs755689022
|
0.00001
|
|
NM_001018005.2(TPM1):c.630G>T (p.Gln210His)
|
rs761816813
|
0.00001
|
|
NM_001018005.2(TPM1):c.646C>G (p.Gln216Glu)
|
rs1265700466
|
0.00001
|
|
NM_001018005.2(TPM1):c.64G>A (p.Ala22Thr)
|
rs397516382
|
0.00001
|
|
NM_001018005.2(TPM1):c.673A>G (p.Ile225Val)
|
rs193922410
|
0.00001
|
|
NM_001018005.2(TPM1):c.703-3C>T
|
rs796682308
|
0.00001
|
|
NM_001018005.2(TPM1):c.755G>T (p.Ser252Ile)
|
rs1375629623
|
0.00001
|
|
NM_001018005.2(TPM1):c.784G>A (p.Ala262Thr)
|
rs758506771
|
0.00001
|
|
NM_001018005.2(TPM1):c.814G>A (p.Glu272Lys)
|
rs755226348
|
0.00001
|
|
NM_001018005.2(TPM1):c.82G>A (p.Asp28Asn)
|
rs397516391
|
0.00001
|
|
NM_001018005.2(TPM1):c.82G>C (p.Asp28His)
|
rs397516391
|
0.00001
|
|
NM_001018005.2(TPM1):c.838G>A (p.Asp280Asn)
|
rs777635889
|
0.00001
|
|
NM_001035.3(RYR2):c.10033del (p.Arg3345fs)
|
rs1060503778
|
0.00001
|
|
NM_001035.3(RYR2):c.10037G>A (p.Gly3346Glu)
|
rs1688603399
|
0.00001
|
|
NM_001035.3(RYR2):c.10079C>T (p.Thr3360Ile)
|
rs924056885
|
0.00001
|
|
NM_001035.3(RYR2):c.10087G>C (p.Ala3363Pro)
|
rs374584820
|
0.00001
|
|
NM_001035.3(RYR2):c.10096C>T (p.Leu3366Phe)
|
rs377712921
|
0.00001
|
|
NM_001035.3(RYR2):c.10142+3A>G
|
rs936725908
|
0.00001
|
|
NM_001035.3(RYR2):c.10142+4T>C
|
rs397516496
|
0.00001
|
|
NM_001035.3(RYR2):c.10142+6A>T
|
rs766051753
|
0.00001
|
|
NM_001035.3(RYR2):c.10143-10T>C
|
rs1300930938
|
0.00001
|
|
NM_001035.3(RYR2):c.10174G>A (p.Ala3392Thr)
|
rs1325112585
|
0.00001
|
|
NM_001035.3(RYR2):c.10230T>C (p.His3410=)
|
rs370078129
|
0.00001
|
|
NM_001035.3(RYR2):c.10247A>C (p.Glu3416Ala)
|
rs1409897706
|
0.00001
|
|
NM_001035.3(RYR2):c.10266G>C (p.Gln3422His)
|
rs368064371
|
0.00001
|
|
NM_001035.3(RYR2):c.10361G>A (p.Arg3454His)
|
rs1229045575
|
0.00001
|
|
NM_001035.3(RYR2):c.10370A>C (p.Asp3457Ala)
|
rs544496844
|
0.00001
|
|
NM_001035.3(RYR2):c.1043G>A (p.Gly348Asp)
|
rs747138259
|
0.00001
|
|
NM_001035.3(RYR2):c.10529G>T (p.Arg3510Leu)
|
rs375947003
|
0.00001
|
|
NM_001035.3(RYR2):c.10612A>C (p.Thr3538Pro)
|
rs894881755
|
0.00001
|
|
NM_001035.3(RYR2):c.10622C>A (p.Thr3541Asn)
|
rs1169415432
|
0.00001
|
|
NM_001035.3(RYR2):c.10637A>G (p.Lys3546Arg)
|
rs1011095512
|
0.00001
|
|
NM_001035.3(RYR2):c.10681C>G (p.Leu3561Val)
|
rs1022428392
|
0.00001
|
|
NM_001035.3(RYR2):c.10816G>A (p.Ala3606Thr)
|
rs772511386
|
0.00001
|
|
NM_001035.3(RYR2):c.10826A>G (p.Tyr3609Cys)
|
rs747372037
|
0.00001
|
|
NM_001035.3(RYR2):c.10844G>A (p.Arg3615Gln)
|
rs879255349
|
0.00001
|
|
NM_001035.3(RYR2):c.1085A>G (p.Tyr362Cys)
|
rs1287712794
|
0.00001
|
|
NM_001035.3(RYR2):c.10873G>A (p.Glu3625Lys)
|
rs1225994973
|
0.00001
|
|
NM_001035.3(RYR2):c.10897G>A (p.Glu3633Lys)
|
rs748501600
|
0.00001
|
|
NM_001035.3(RYR2):c.10970G>A (p.Gly3657Asp)
|
rs876661020
|
0.00001
|
|
NM_001035.3(RYR2):c.10973C>G (p.Thr3658Ser)
|
rs766499417
|
0.00001
|
|
NM_001035.3(RYR2):c.10975A>G (p.Lys3659Glu)
|
rs184527312
|
0.00001
|
|
NM_001035.3(RYR2):c.10982T>C (p.Val3661Ala)
|
rs1163500187
|
0.00001
|
|
NM_001035.3(RYR2):c.10987C>T (p.Pro3663Ser)
|
rs1299197961
|
0.00001
|
|
NM_001035.3(RYR2):c.11036A>G (p.Lys3679Arg)
|
rs758125356
|
0.00001
|
|
NM_001035.3(RYR2):c.11040-3C>T
|
rs876657984
|
0.00001
|
|
NM_001035.3(RYR2):c.11065A>G (p.Met3689Val)
|
rs1215940793
|
0.00001
|
|
NM_001035.3(RYR2):c.11111A>G (p.Asp3704Gly)
|
rs1334028810
|
0.00001
|
|
NM_001035.3(RYR2):c.11158G>C (p.Glu3720Gln)
|
rs770241781
|
0.00001
|
|
NM_001035.3(RYR2):c.1115T>A (p.Leu372His)
|
rs763658621
|
0.00001
|
|
NM_001035.3(RYR2):c.11207C>T (p.Ala3736Val)
|
rs1209754420
|
0.00001
|
|
NM_001035.3(RYR2):c.11266G>A (p.Ala3756Thr)
|
rs942942966
|
0.00001
|
|
NM_001035.3(RYR2):c.11402+6G>A
|
rs374183234
|
0.00001
|
|
NM_001035.3(RYR2):c.11428C>T (p.Arg3810Ter)
|
rs1446308525
|
0.00001
|
|
NM_001035.3(RYR2):c.11480A>C (p.Glu3827Ala)
|
rs1446930267
|
0.00001
|
|
NM_001035.3(RYR2):c.11484G>T (p.Lys3828Asn)
|
rs1200279072
|
0.00001
|
|
NM_001035.3(RYR2):c.11485G>A (p.Val3829Ile)
|
rs886524806
|
0.00001
|
|
NM_001035.3(RYR2):c.11552A>G (p.Asn3851Ser)
|
rs967116157
|
0.00001
|
|
NM_001035.3(RYR2):c.11558-10T>A
|
rs1060500167
|
0.00001
|
|
NM_001035.3(RYR2):c.1159A>C (p.Ile387Leu)
|
rs748169418
|
0.00001
|
|
NM_001035.3(RYR2):c.11608A>G (p.Ile3870Val)
|
rs1333353951
|
0.00001
|
|
NM_001035.3(RYR2):c.11672A>T (p.Tyr3891Phe)
|
rs1430332496
|
0.00001
|
|
NM_001035.3(RYR2):c.1174A>G (p.Ile392Val)
|
rs574563209
|
0.00001
|
|
NM_001035.3(RYR2):c.11775+6C>A
|
rs758183625
|
0.00001
|
|
NM_001035.3(RYR2):c.11839T>C (p.Phe3947Leu)
|
rs1490290877
|
0.00001
|
|
NM_001035.3(RYR2):c.11894T>C (p.Ile3965Thr)
|
rs1272734214
|
0.00001
|
|
NM_001035.3(RYR2):c.11998G>A (p.Val4000Met)
|
rs773760019
|
0.00001
|
|
NM_001035.3(RYR2):c.12023A>G (p.Asn4008Ser)
|
rs1330847491
|
0.00001
|
|
NM_001035.3(RYR2):c.12057G>A (p.Met4019Ile)
|
rs763668006
|
0.00001
|
|
NM_001035.3(RYR2):c.12152C>T (p.Ala4051Val)
|
rs1326672128
|
0.00001
|
|
NM_001035.3(RYR2):c.12167A>G (p.Lys4056Arg)
|
rs762743022
|
0.00001
|
|
NM_001035.3(RYR2):c.12210G>A (p.Ala4070=)
|
rs757703714
|
0.00001
|
|
NM_001035.3(RYR2):c.12244G>A (p.Glu4082Lys)
|
rs774241742
|
0.00001
|
|
NM_001035.3(RYR2):c.12283G>A (p.Gly4095Ser)
|
rs753850982
|
0.00001
|
|
NM_001035.3(RYR2):c.12292G>A (p.Val4098Ile)
|
rs1047248475
|
0.00001
|
|
NM_001035.3(RYR2):c.12298G>A (p.Val4100Ile)
|
rs758785338
|
0.00001
|
|
NM_001035.3(RYR2):c.12403C>T (p.Arg4135Cys)
|
rs761039434
|
0.00001
|
|
NM_001035.3(RYR2):c.12404G>A (p.Arg4135His)
|
rs764202302
|
0.00001
|
|
NM_001035.3(RYR2):c.12497A>G (p.Lys4166Arg)
|
rs1450189858
|
0.00001
|
|
NM_001035.3(RYR2):c.1250G>A (p.Arg417Gln)
|
rs751428303
|
0.00001
|
|
NM_001035.3(RYR2):c.12639G>C (p.Glu4213Asp)
|
rs1695374375
|
0.00001
|
|
NM_001035.3(RYR2):c.12692C>T (p.Pro4231Leu)
|
rs1321340277
|
0.00001
|
|
NM_001035.3(RYR2):c.12700G>A (p.Ala4234Thr)
|
rs773317989
|
0.00001
|
|
NM_001035.3(RYR2):c.12767T>C (p.Met4256Thr)
|
rs530277653
|
0.00001
|
|
NM_001035.3(RYR2):c.12770G>A (p.Arg4257Gln)
|
rs371396204
|
0.00001
|
|
NM_001035.3(RYR2):c.12820A>T (p.Met4274Leu)
|
rs1304617213
|
0.00001
|
|
NM_001035.3(RYR2):c.12826G>A (p.Val4276Met)
|
rs368599791
|
0.00001
|
|
NM_001035.3(RYR2):c.1284A>T (p.Arg428Ser)
|
rs777771262
|
0.00001
|
|
NM_001035.3(RYR2):c.12860A>G (p.Tyr4287Cys)
|
rs1422123208
|
0.00001
|
|
NM_001035.3(RYR2):c.12887A>C (p.His4296Pro)
|
rs1695398009
|
0.00001
|
|
NM_001035.3(RYR2):c.12913T>C (p.Phe4305Leu)
|
rs1477602829
|
0.00001
|
|
NM_001035.3(RYR2):c.12994G>A (p.Ala4332Thr)
|
rs1695407325
|
0.00001
|
|
NM_001035.3(RYR2):c.13079C>T (p.Ser4360Phe)
|
rs982384666
|
0.00001
|
|
NM_001035.3(RYR2):c.13081G>A (p.Glu4361Lys)
|
rs794728795
|
0.00001
|
|
NM_001035.3(RYR2):c.13088T>C (p.Leu4363Pro)
|
rs762239413
|
0.00001
|
|
NM_001035.3(RYR2):c.13093G>A (p.Asp4365Asn)
|
rs372880584
|
0.00001
|
|
NM_001035.3(RYR2):c.13103A>G (p.Glu4368Gly)
|
rs1483523927
|
0.00001
|
|
NM_001035.3(RYR2):c.13198G>T (p.Ala4400Ser)
|
rs750662333
|
0.00001
|
|
NM_001035.3(RYR2):c.13216A>T (p.Met4406Leu)
|
rs1328615953
|
0.00001
|
|
NM_001035.3(RYR2):c.13283A>G (p.Glu4428Gly)
|
rs1254605642
|
0.00001
|
|
NM_001035.3(RYR2):c.13351G>A (p.Glu4451Lys)
|
rs780734342
|
0.00001
|
|
NM_001035.3(RYR2):c.13370A>G (p.Lys4457Arg)
|
rs747584325
|
0.00001
|
|
NM_001035.3(RYR2):c.13379A>G (p.Gln4460Arg)
|
rs762879895
|
0.00001
|
|
NM_001035.3(RYR2):c.13405A>G (p.Arg4469Gly)
|
rs367809296
|
0.00001
|
|
NM_001035.3(RYR2):c.13423G>A (p.Val4475Met)
|
rs1275899087
|
0.00001
|
|
NM_001035.3(RYR2):c.13457C>G (p.Ala4486Gly)
|
rs779309213
|
0.00001
|
|
NM_001035.3(RYR2):c.1346T>G (p.Ile449Arg)
|
rs373331669
|
0.00001
|
|
NM_001035.3(RYR2):c.13476+6A>G
|
rs1457866950
|
0.00001
|
|
NM_001035.3(RYR2):c.13504A>C (p.Met4502Leu)
|
rs876657985
|
0.00001
|
|
NM_001035.3(RYR2):c.13526T>C (p.Val4509Ala)
|
rs1209033509
|
0.00001
|
|
NM_001035.3(RYR2):c.13615A>C (p.Ser4539Arg)
|
rs778498741
|
0.00001
|
|
NM_001035.3(RYR2):c.13624G>A (p.Ala4542Thr)
|
rs1296705206
|
0.00001
|
|
NM_001035.3(RYR2):c.13655A>G (p.His4552Arg)
|
rs768299786
|
0.00001
|
|
NM_001035.3(RYR2):c.13661T>C (p.Ile4554Thr)
|
rs1234650666
|
0.00001
|
|
NM_001035.3(RYR2):c.13696G>A (p.Gly4566Ser)
|
rs767716570
|
0.00001
|
|
NM_001035.3(RYR2):c.13976A>G (p.Glu4659Gly)
|
rs749030677
|
0.00001
|
|
NM_001035.3(RYR2):c.1397C>A (p.Pro466Gln)
|
rs967199869
|
0.00001
|
|
NM_001035.3(RYR2):c.13984G>A (p.Gly4662Ser)
|
rs886039213
|
0.00001
|
|
NM_001035.3(RYR2):c.14024C>A (p.Ala4675Glu)
|
rs1172831046
|
0.00001
|
|
NM_001035.3(RYR2):c.1403A>G (p.Glu468Gly)
|
rs1282053556
|
0.00001
|
|
NM_001035.3(RYR2):c.14041G>A (p.Asp4681Asn)
|
rs1478475074
|
0.00001
|
|
NM_001035.3(RYR2):c.14066A>G (p.Lys4689Arg)
|
rs1085307711
|
0.00001
|
|
NM_001035.3(RYR2):c.14098T>G (p.Ser4700Ala)
|
rs766629125
|
0.00001
|
|
NM_001035.3(RYR2):c.14151+1G>A
|
rs745576995
|
0.00001
|
|
NM_001035.3(RYR2):c.14151C>T (p.Asn4717=)
|
rs1479892874
|
0.00001
|
|
NM_001035.3(RYR2):c.14152-3T>C
|
rs376797615
|
0.00001
|
|
NM_001035.3(RYR2):c.1424A>G (p.Lys475Arg)
|
rs750510651
|
0.00001
|
|
NM_001035.3(RYR2):c.14302G>A (p.Val4768Ile)
|
rs775534249
|
0.00001
|
|
NM_001035.3(RYR2):c.14344A>G (p.Thr4782Ala)
|
rs762305687
|
0.00001
|
|
NM_001035.3(RYR2):c.14369G>A (p.Arg4790Gln)
|
rs750780758
|
0.00001
|
|
NM_001035.3(RYR2):c.14422G>A (p.Asp4808Asn)
|
rs777414943
|
0.00001
|
|
NM_001035.3(RYR2):c.1476+5G>A
|
rs778668388
|
0.00001
|
|
NM_001035.3(RYR2):c.14841G>T (p.Arg4947Ser)
|
rs1252294768
|
0.00001
|
|
NM_001035.3(RYR2):c.14869T>A (p.Cys4957Ser)
|
rs758500988
|
0.00001
|
|
NM_001035.3(RYR2):c.1492G>A (p.Val498Met)
|
rs760100468
|
0.00001
|
|
NM_001035.3(RYR2):c.1509C>A (p.Asp503Glu)
|
rs764532025
|
0.00001
|
|
NM_001035.3(RYR2):c.1517A>T (p.His506Leu)
|
rs1476195040
|
0.00001
|
|
NM_001035.3(RYR2):c.1526G>A (p.Ser509Asn)
|
rs1558850631
|
0.00001
|
|
NM_001035.3(RYR2):c.1537C>G (p.His513Asp)
|
rs1230792928
|
0.00001
|
|
NM_001035.3(RYR2):c.1559G>A (p.Arg520Gln)
|
rs564957172
|
0.00001
|
|
NM_001035.3(RYR2):c.1573T>G (p.Ser525Ala)
|
rs1207389001
|
0.00001
|
|
NM_001035.3(RYR2):c.1698A>C (p.Glu566Asp)
|
rs1397154786
|
0.00001
|
|
NM_001035.3(RYR2):c.1699G>C (p.Ala567Pro)
|
rs753758467
|
0.00001
|
|
NM_001035.3(RYR2):c.1775G>A (p.Gly592Glu)
|
rs794728724
|
0.00001
|
|
NM_001035.3(RYR2):c.1843T>G (p.Cys615Gly)
|
rs1055900110
|
0.00001
|
|
NM_001035.3(RYR2):c.1864G>A (p.Gly622Arg)
|
rs376243998
|
0.00001
|
|
NM_001035.3(RYR2):c.1903A>C (p.Asn635His)
|
rs768241033
|
0.00001
|
|
NM_001035.3(RYR2):c.1909C>A (p.Leu637Ile)
|
rs1159892117
|
0.00001
|
|
NM_001035.3(RYR2):c.1927T>A (p.Leu643Ile)
|
rs368918887
|
0.00001
|
|
NM_001035.3(RYR2):c.1951C>T (p.His651Tyr)
|
rs759839219
|
0.00001
|
|
NM_001035.3(RYR2):c.1963A>T (p.Met655Leu)
|
rs1664091653
|
0.00001
|
|
NM_001035.3(RYR2):c.1976T>G (p.Ile659Ser)
|
rs753013388
|
0.00001
|
|
NM_001035.3(RYR2):c.2050C>A (p.Pro684Thr)
|
rs1553473182
|
0.00001
|
|
NM_001035.3(RYR2):c.2081G>A (p.Arg694Gln)
|
rs190787113
|
0.00001
|
|
NM_001035.3(RYR2):c.2101G>A (p.Glu701Lys)
|
rs748762074
|
0.00001
|
|
NM_001035.3(RYR2):c.2121T>A (p.Pro707=)
|
rs1004858931
|
0.00001
|
|
NM_001035.3(RYR2):c.2125G>T (p.Gly709Trp)
|
rs775143324
|
0.00001
|
|
NM_001035.3(RYR2):c.2131G>A (p.Glu711Lys)
|
rs1470689668
|
0.00001
|
|
NM_001035.3(RYR2):c.2146A>G (p.Asn716Asp)
|
rs1395171532
|
0.00001
|
|
NM_001035.3(RYR2):c.2174A>G (p.Tyr725Cys)
|
rs776700027
|
0.00001
|
|
NM_001035.3(RYR2):c.2203+3_2203+4dup
|
rs730880376
|
0.00001
|
|
NM_001035.3(RYR2):c.2215C>T (p.Arg739Cys)
|
rs1170501862
|
0.00001
|
|
NM_001035.3(RYR2):c.2216G>A (p.Arg739His)
|
rs955065308
|
0.00001
|
|
NM_001035.3(RYR2):c.2260G>T (p.Val754Phe)
|
rs376923538
|
0.00001
|
|
NM_001035.3(RYR2):c.226C>T (p.Arg76Trp)
|
rs542777295
|
0.00001
|
|
NM_001035.3(RYR2):c.2300C>T (p.Ser767Leu)
|
rs749979131
|
0.00001
|
|
NM_001035.3(RYR2):c.2306G>A (p.Arg769Gln)
|
rs754901791
|
0.00001
|
|
NM_001035.3(RYR2):c.2320C>A (p.Pro774Thr)
|
rs780965490
|
0.00001
|
|
NM_001035.3(RYR2):c.2323G>A (p.Val775Ile)
|
rs747893832
|
0.00001
|
|
NM_001035.3(RYR2):c.2350A>T (p.Ile784Phe)
|
rs794728729
|
0.00001
|
|
NM_001035.3(RYR2):c.2354A>G (p.Asp785Gly)
|
rs1572613741
|
0.00001
|
|
NM_001035.3(RYR2):c.2364C>A (p.Phe788Leu)
|
rs776018906
|
0.00001
|
|
NM_001035.3(RYR2):c.2394A>G (p.Ile798Met)
|
rs192876953
|
0.00001
|
|
NM_001035.3(RYR2):c.2402G>T (p.Arg801Leu)
|
rs371157868
|
0.00001
|
|
NM_001035.3(RYR2):c.2416G>C (p.Gly806Arg)
|
rs1227019047
|
0.00001
|
|
NM_001035.3(RYR2):c.2420G>A (p.Arg807Gln)
|
rs753611255
|
0.00001
|
|
NM_001035.3(RYR2):c.2423A>G (p.His808Arg)
|
rs757443712
|
0.00001
|
|
NM_001035.3(RYR2):c.2444C>T (p.Pro815Leu)
|
rs537596448
|
0.00001
|
|
NM_001035.3(RYR2):c.2542C>T (p.Arg848Cys)
|
rs765102386
|
0.00001
|
|
NM_001035.3(RYR2):c.2543G>A (p.Arg848His)
|
rs1247047478
|
0.00001
|
|
NM_001035.3(RYR2):c.256G>A (p.Val86Met)
|
rs1217618479
|
0.00001
|
|
NM_001035.3(RYR2):c.2603A>G (p.Asp868Gly)
|
rs1272250863
|
0.00001
|
|
NM_001035.3(RYR2):c.2650A>G (p.Lys884Glu)
|
rs767642846
|
0.00001
|
|
NM_001035.3(RYR2):c.2663A>G (p.Asn888Ser)
|
rs1289969599
|
0.00001
|
|
NM_001035.3(RYR2):c.2707C>A (p.Gln903Lys)
|
rs1458382114
|
0.00001
|
|
NM_001035.3(RYR2):c.2773C>T (p.Pro925Ser)
|
rs1023177526
|
0.00001
|
|
NM_001035.3(RYR2):c.2786G>A (p.Arg929His)
|
rs876657988
|
0.00001
|
|
NM_001035.3(RYR2):c.284T>A (p.Val95Glu)
|
rs900519025
|
0.00001
|
|
NM_001035.3(RYR2):c.2863G>A (p.Glu955Lys)
|
rs745798722
|
0.00001
|
|
NM_001035.3(RYR2):c.2904G>C (p.Lys968Asn)
|
rs768807940
|
0.00001
|
|
NM_001035.3(RYR2):c.2907T>C (p.Asn969=)
|
rs763800107
|
0.00001
|
|
NM_001035.3(RYR2):c.2941A>G (p.Met981Val)
|
rs768893657
|
0.00001
|
|
NM_001035.3(RYR2):c.2945A>G (p.Asp982Gly)
|
rs1461569961
|
0.00001
|
|
NM_001035.3(RYR2):c.2960A>C (p.Lys987Thr)
|
rs1294571823
|
0.00001
|
|
NM_001035.3(RYR2):c.2969C>T (p.Pro990Leu)
|
rs912594681
|
0.00001
|
|
NM_001035.3(RYR2):c.2978A>G (p.Glu993Gly)
|
rs760019189
|
0.00001
|
|
NM_001035.3(RYR2):c.2984T>C (p.Met995Thr)
|
rs1009381849
|
0.00001
|
|
NM_001035.3(RYR2):c.3026G>A (p.Arg1009Gln)
|
rs754812132
|
0.00001
|
|
NM_001035.3(RYR2):c.3037C>T (p.Arg1013Trp)
|
rs777740439
|
0.00001
|
|
NM_001035.3(RYR2):c.3070G>T (p.Val1024Leu)
|
rs1291873158
|
0.00001
|
|
NM_001035.3(RYR2):c.3089C>T (p.Pro1030Leu)
|
rs1404965456
|
0.00001
|
|
NM_001035.3(RYR2):c.3142G>A (p.Asp1048Asn)
|
rs1384422533
|
0.00001
|
|
NM_001035.3(RYR2):c.3154G>A (p.Glu1052Lys)
|
rs1271333166
|
0.00001
|
|
NM_001035.3(RYR2):c.3167C>T (p.Thr1056Met)
|
rs779146564
|
0.00001
|
|
NM_001035.3(RYR2):c.3181G>A (p.Gly1061Ser)
|
rs747447414
|
0.00001
|
|
NM_001035.3(RYR2):c.3220A>G (p.Arg1074Gly)
|
rs1559038380
|
0.00001
|
|
NM_001035.3(RYR2):c.3244G>A (p.Gly1082Arg)
|
rs774797663
|
0.00001
|
|
NM_001035.3(RYR2):c.326G>C (p.Gly109Ala)
|
rs1572014527
|
0.00001
|
|
NM_001035.3(RYR2):c.3271G>A (p.Glu1091Lys)
|
rs730880191
|
0.00001
|
|
NM_001035.3(RYR2):c.3295G>A (p.Gly1099Arg)
|
rs767849564
|
0.00001
|
|
NM_001035.3(RYR2):c.3400G>T (p.Ala1134Ser)
|
rs886046265
|
0.00001
|
|
NM_001035.3(RYR2):c.340C>G (p.Leu114Val)
|
rs759271857
|
0.00001
|
|
NM_001035.3(RYR2):c.3431G>A (p.Arg1144Gln)
|
rs193125030
|
0.00001
|
|
NM_001035.3(RYR2):c.3506A>G (p.Asn1169Ser)
|
rs979486756
|
0.00001
|
|
NM_001035.3(RYR2):c.3514A>T (p.Thr1172Ser)
|
rs760782284
|
0.00001
|
|
NM_001035.3(RYR2):c.3517A>G (p.Met1173Val)
|
rs762372863
|
0.00001
|
|
NM_001035.3(RYR2):c.3610G>A (p.Val1204Met)
|
rs1435421903
|
0.00001
|
|
NM_001035.3(RYR2):c.3638G>C (p.Gly1213Ala)
|
rs766838912
|
0.00001
|
|
NM_001035.3(RYR2):c.365G>A (p.Arg122His)
|
rs727503396
|
0.00001
|
|
NM_001035.3(RYR2):c.3674A>C (p.Lys1225Thr)
|
rs1185398824
|
0.00001
|
|
NM_001035.3(RYR2):c.3677A>G (p.Tyr1226Cys)
|
rs371124046
|
0.00001
|
|
NM_001035.3(RYR2):c.3707A>G (p.Tyr1236Cys)
|
rs1421115838
|
0.00001
|
|
NM_001035.3(RYR2):c.3767C>T (p.Pro1256Leu)
|
rs773915323
|
0.00001
|
|
NM_001035.3(RYR2):c.3805G>C (p.Glu1269Gln)
|
rs763766154
|
0.00001
|
|
NM_001035.3(RYR2):c.3823G>A (p.Gly1275Ser)
|
rs769294223
|
0.00001
|
|
NM_001035.3(RYR2):c.3839C>T (p.Ser1280Phe)
|
rs759424061
|
0.00001
|
|
NM_001035.3(RYR2):c.3844T>C (p.Cys1282Arg)
|
rs1057518304
|
0.00001
|
|
NM_001035.3(RYR2):c.3894T>G (p.Asp1298Glu)
|
rs1383564773
|
0.00001
|
|
NM_001035.3(RYR2):c.3899T>C (p.Met1300Thr)
|
rs772739688
|
0.00001
|
|
NM_001035.3(RYR2):c.3920C>T (p.Pro1307Leu)
|
rs1412253468
|
0.00001
|
|
NM_001035.3(RYR2):c.3931G>A (p.Ala1311Thr)
|
rs368635274
|
0.00001
|
|
NM_001035.3(RYR2):c.3955G>A (p.Ala1319Thr)
|
rs376526841
|
0.00001
|
|
NM_001035.3(RYR2):c.3958G>A (p.Gly1320Arg)
|
rs1264658238
|
0.00001
|
|
NM_001035.3(RYR2):c.3964C>T (p.Leu1322Phe)
|
rs770433289
|
0.00001
|
|
NM_001035.3(RYR2):c.3973G>C (p.Ala1325Pro)
|
rs1043523829
|
0.00001
|
|
NM_001035.3(RYR2):c.4010A>G (p.Tyr1337Cys)
|
rs765369749
|
0.00001
|
|
NM_001035.3(RYR2):c.401C>G (p.Ser134Cys)
|
rs768757680
|
0.00001
|
|
NM_001035.3(RYR2):c.4020T>A (p.Asp1340Glu)
|
rs1040456396
|
0.00001
|
|
NM_001035.3(RYR2):c.4078G>A (p.Asp1360Asn)
|
rs1274140033
|
0.00001
|
|
NM_001035.3(RYR2):c.409C>T (p.Arg137Trp)
|
rs761916230
|
0.00001
|
|
NM_001035.3(RYR2):c.4121A>G (p.Lys1374Arg)
|
rs1675089718
|
0.00001
|
|
NM_001035.3(RYR2):c.412T>G (p.Ser138Ala)
|
rs765875891
|
0.00001
|
|
NM_001035.3(RYR2):c.4241G>A (p.Arg1414Gln)
|
rs727504850
|
0.00001
|
|
NM_001035.3(RYR2):c.4274C>T (p.Thr1425Met)
|
rs761181641
|
0.00001
|
|
NM_001035.3(RYR2):c.4280A>G (p.Tyr1427Cys)
|
rs1427196403
|
0.00001
|
|
NM_001035.3(RYR2):c.4366G>A (p.Gly1456Ser)
|
rs1265113691
|
0.00001
|
|
NM_001035.3(RYR2):c.4457A>G (p.Tyr1486Cys)
|
rs1353376223
|
0.00001
|
|
NM_001035.3(RYR2):c.4498C>T (p.Arg1500Cys)
|
rs778394498
|
0.00001
|
|
NM_001035.3(RYR2):c.4507A>G (p.Asn1503Asp)
|
rs794728736
|
0.00001
|
|
NM_001035.3(RYR2):c.4538C>T (p.Ala1513Val)
|
rs895086218
|
0.00001
|
|
NM_001035.3(RYR2):c.4666G>A (p.Glu1556Lys)
|
rs1048532590
|
0.00001
|
|
NM_001035.3(RYR2):c.4677A>T (p.Arg1559Ser)
|
rs756330224
|
0.00001
|
|
NM_001035.3(RYR2):c.4700C>T (p.Ser1567Leu)
|
rs772008541
|
0.00001
|
|
NM_001035.3(RYR2):c.4723C>T (p.His1575Tyr)
|
rs397516535
|
0.00001
|
|
NM_001035.3(RYR2):c.4732C>T (p.Pro1578Ser)
|
rs761852488
|
0.00001
|
|
NM_001035.3(RYR2):c.4753C>T (p.Arg1585Cys)
|
rs528206995
|
0.00001
|
|
NM_001035.3(RYR2):c.4754G>A (p.Arg1585His)
|
rs1392451418
|
0.00001
|
|
NM_001035.3(RYR2):c.4793G>A (p.Arg1598Lys)
|
rs1056392680
|
0.00001
|
|
NM_001035.3(RYR2):c.4828C>T (p.Arg1610Ter)
|
rs794728738
|
0.00001
|
|
NM_001035.3(RYR2):c.4831A>G (p.Ile1611Val)
|
rs755572625
|
0.00001
|
|
NM_001035.3(RYR2):c.4840C>T (p.Arg1614Cys)
|
rs373079767
|
0.00001
|
|
NM_001035.3(RYR2):c.4841G>A (p.Arg1614His)
|
rs746943081
|
0.00001
|
|
NM_001035.3(RYR2):c.4847G>A (p.Gly1616Asp)
|
rs1295709441
|
0.00001
|
|
NM_001035.3(RYR2):c.4882A>G (p.Met1628Val)
|
rs757286828
|
0.00001
|
|
NM_001035.3(RYR2):c.4911A>G (p.Arg1637=)
|
rs1251055364
|
0.00001
|
|
NM_001035.3(RYR2):c.4950G>C (p.Leu1650Phe)
|
rs376251968
|
0.00001
|
|
NM_001035.3(RYR2):c.5056C>T (p.Leu1686Phe)
|
rs752684338
|
0.00001
|
|
NM_001035.3(RYR2):c.505C>T (p.Arg169Ter)
|
rs749930577
|
0.00001
|
|
NM_001035.3(RYR2):c.5102G>C (p.Gly1701Ala)
|
rs750602360
|
0.00001
|
|
NM_001035.3(RYR2):c.5198C>T (p.Thr1733Met)
|
rs750668049
|
0.00001
|
|
NM_001035.3(RYR2):c.5261G>C (p.Ser1754Thr)
|
rs397516542
|
0.00001
|
|
NM_001035.3(RYR2):c.5363A>C (p.Lys1788Thr)
|
rs779637196
|
0.00001
|
|
NM_001035.3(RYR2):c.5404G>A (p.Gly1802Ser)
|
rs773181830
|
0.00001
|
|
NM_001035.3(RYR2):c.5406C>T (p.Gly1802=)
|
rs1553522322
|
0.00001
|
|
NM_001035.3(RYR2):c.5411T>C (p.Leu1804Pro)
|
rs1411508789
|
0.00001
|
|
NM_001035.3(RYR2):c.5416G>A (p.Ala1806Thr)
|
rs767728159
|
0.00001
|
|
NM_001035.3(RYR2):c.5419C>T (p.Arg1807Trp)
|
rs752863160
|
0.00001
|
|
NM_001035.3(RYR2):c.5542C>T (p.Pro1848Ser)
|
rs760731968
|
0.00001
|
|
NM_001035.3(RYR2):c.5590C>A (p.Leu1864Met)
|
rs1202498329
|
0.00001
|
|
NM_001035.3(RYR2):c.569G>A (p.Arg190Lys)
|
rs1237664259
|
0.00001
|
|
NM_001035.3(RYR2):c.5717T>C (p.Met1906Thr)
|
rs748307254
|
0.00001
|
|
NM_001035.3(RYR2):c.5755C>T (p.Arg1919Trp)
|
rs771469528
|
0.00001
|
|
NM_001035.3(RYR2):c.5824T>C (p.Phe1942Leu)
|
rs368669045
|
0.00001
|
|
NM_001035.3(RYR2):c.5949A>C (p.Lys1983Asn)
|
rs1181887323
|
0.00001
|
|
NM_001035.3(RYR2):c.5978G>A (p.Arg1993His)
|
rs551362343
|
0.00001
|
|
NM_001035.3(RYR2):c.6079G>A (p.Gly2027Arg)
|
rs1226663873
|
0.00001
|
|
NM_001035.3(RYR2):c.6140C>T (p.Pro2047Leu)
|
rs1464384648
|
0.00001
|
|
NM_001035.3(RYR2):c.6166+10A>G
|
rs776614601
|
0.00001
|
|
NM_001035.3(RYR2):c.6167-3C>T
|
rs1327145604
|
0.00001
|
|
NM_001035.3(RYR2):c.616G>A (p.Ala206Thr)
|
rs930769080
|
0.00001
|
|
NM_001035.3(RYR2):c.6185T>C (p.Ile2062Thr)
|
rs750073486
|
0.00001
|
|
NM_001035.3(RYR2):c.6203G>A (p.Arg2068Gln)
|
rs869025512
|
0.00001
|
|
NM_001035.3(RYR2):c.6230A>G (p.Asp2077Gly)
|
rs1415188748
|
0.00001
|
|
NM_001035.3(RYR2):c.6265C>T (p.His2089Tyr)
|
rs1057524513
|
0.00001
|
|
NM_001035.3(RYR2):c.6269G>A (p.Arg2090Gln)
|
rs1379845021
|
0.00001
|
|
NM_001035.3(RYR2):c.6431G>A (p.Arg2144His)
|
rs1243083109
|
0.00001
|
|
NM_001035.3(RYR2):c.6443A>T (p.Asp2148Val)
|
rs1375995287
|
0.00001
|
|
NM_001035.3(RYR2):c.6519G>T (p.Glu2173Asp)
|
rs368920731
|
0.00001
|
|
NM_001035.3(RYR2):c.6773G>A (p.Arg2258His)
|
rs779289104
|
0.00001
|
|
NM_001035.3(RYR2):c.6779C>T (p.Pro2260Leu)
|
rs746319435
|
0.00001
|
|
NM_001035.3(RYR2):c.6811G>A (p.Gly2271Ser)
|
rs375371340
|
0.00001
|
|
NM_001035.3(RYR2):c.6862A>G (p.Ile2288Val)
|
rs1228663009
|
0.00001
|
|
NM_001035.3(RYR2):c.6952A>G (p.Asn2318Asp)
|
rs1006334960
|
0.00001
|
|
NM_001035.3(RYR2):c.6976C>T (p.Arg2326Trp)
|
rs1207293121
|
0.00001
|
|
NM_001035.3(RYR2):c.6997C>A (p.Pro2333Thr)
|
rs370137005
|
0.00001
|
|
NM_001035.3(RYR2):c.7040T>C (p.Met2347Thr)
|
rs1177415020
|
0.00001
|
|
NM_001035.3(RYR2):c.7055A>G (p.Lys2352Arg)
|
rs1378161090
|
0.00001
|
|
NM_001035.3(RYR2):c.7057A>G (p.Ile2353Val)
|
rs375356774
|
0.00001
|
|
NM_001035.3(RYR2):c.7117G>T (p.Asp2373Tyr)
|
rs397516548
|
0.00001
|
|
NM_001035.3(RYR2):c.7220A>C (p.His2407Pro)
|
rs1197580766
|
0.00001
|
|
NM_001035.3(RYR2):c.7234G>A (p.Gly2412Arg)
|
rs550534270
|
0.00001
|
|
NM_001035.3(RYR2):c.7373C>T (p.Ala2458Val)
|
rs768478443
|
0.00001
|
|
NM_001035.3(RYR2):c.737C>T (p.Thr246Ile)
|
rs757478498
|
0.00001
|
|
NM_001035.3(RYR2):c.7512G>A (p.Thr2504=)
|
rs1682411061
|
0.00001
|
|
NM_001035.3(RYR2):c.7528A>G (p.Thr2510Ala)
|
rs777279244
|
0.00001
|
|
NM_001035.3(RYR2):c.7550A>G (p.Asn2517Ser)
|
rs1314129285
|
0.00001
|
|
NM_001035.3(RYR2):c.7570G>A (p.Val2524Ile)
|
rs934248102
|
0.00001
|
|
NM_001035.3(RYR2):c.7621C>A (p.His2541Asn)
|
rs763814352
|
0.00001
|
|
NM_001035.3(RYR2):c.7654G>A (p.Val2552Met)
|
rs746822781
|
0.00001
|
|
NM_001035.3(RYR2):c.7658A>G (p.Tyr2553Cys)
|
rs1358268703
|
0.00001
|
|
NM_001035.3(RYR2):c.7696C>T (p.Arg2566Trp)
|
rs773475551
|
0.00001
|
|
NM_001035.3(RYR2):c.769C>T (p.Arg257Trp)
|
rs750477551
|
0.00001
|
|
NM_001035.3(RYR2):c.7733+3G>A
|
rs1014182598
|
0.00001
|
|
NM_001035.3(RYR2):c.7750A>G (p.Met2584Val)
|
rs772541555
|
0.00001
|
|
NM_001035.3(RYR2):c.7936T>A (p.Trp2646Arg)
|
rs769118599
|
0.00001
|
|
NM_001035.3(RYR2):c.7940G>A (p.Gly2647Asp)
|
rs776908944
|
0.00001
|
|
NM_001035.3(RYR2):c.7955T>A (p.Leu2652Gln)
|
rs748531950
|
0.00001
|
|
NM_001035.3(RYR2):c.7955T>C (p.Leu2652Pro)
|
rs748531950
|
0.00001
|
|
NM_001035.3(RYR2):c.8027T>C (p.Leu2676Ser)
|
rs1338788038
|
0.00001
|
|
NM_001035.3(RYR2):c.8063T>A (p.Met2688Lys)
|
rs1257768473
|
0.00001
|
|
NM_001035.3(RYR2):c.8075A>G (p.Gln2692Arg)
|
rs370072276
|
0.00001
|
|
NM_001035.3(RYR2):c.8083A>G (p.Met2695Val)
|
rs886959086
|
0.00001
|
|
NM_001035.3(RYR2):c.808C>T (p.His270Tyr)
|
rs745558219
|
0.00001
|
|
NM_001035.3(RYR2):c.8107C>A (p.Pro2703Thr)
|
rs763186606
|
0.00001
|
|
NM_001035.3(RYR2):c.8143G>A (p.Glu2715Lys)
|
rs756472432
|
0.00001
|
|
NM_001035.3(RYR2):c.8228A>G (p.Tyr2743Cys)
|
rs368952500
|
0.00001
|
|
NM_001035.3(RYR2):c.8269A>G (p.Met2757Val)
|
rs376015452
|
0.00001
|
|
NM_001035.3(RYR2):c.8298+5G>A
|
rs773129405
|
0.00001
|
|
NM_001035.3(RYR2):c.8298+6G>C
|
rs915760671
|
0.00001
|
|
NM_001035.3(RYR2):c.8310T>G (p.Ile2770Met)
|
rs974847063
|
0.00001
|
|
NM_001035.3(RYR2):c.8314C>T (p.Arg2772Cys)
|
rs754379518
|
0.00001
|
|
NM_001035.3(RYR2):c.836C>T (p.Thr279Met)
|
rs754312807
|
0.00001
|
|
NM_001035.3(RYR2):c.8377C>T (p.Arg2793Trp)
|
rs373172640
|
0.00001
|
|
NM_001035.3(RYR2):c.8392A>T (p.Met2798Leu)
|
rs1275797500
|
0.00001
|
|
NM_001035.3(RYR2):c.8414G>A (p.Arg2805His)
|
rs1247067433
|
0.00001
|
|
NM_001035.3(RYR2):c.8417G>A (p.Arg2806His)
|
rs955927781
|
0.00001
|
|
NM_001035.3(RYR2):c.8434C>G (p.Gln2812Glu)
|
rs377285717
|
0.00001
|
|
NM_001035.3(RYR2):c.848+1G>A
|
rs772984053
|
0.00001
|
|
NM_001035.3(RYR2):c.8482A>C (p.Met2828Leu)
|
rs948094250
|
0.00001
|
|
NM_001035.3(RYR2):c.8486G>A (p.Ser2829Asn)
|
rs752268870
|
0.00001
|
|
NM_001035.3(RYR2):c.848C>T (p.Ala283Val)
|
rs1163526442
|
0.00001
|
|
NM_001035.3(RYR2):c.849-10T>C
|
rs771173251
|
0.00001
|
|
NM_001035.3(RYR2):c.849-12del
|
rs765156667
|
0.00001
|
|
NM_001035.3(RYR2):c.8606C>T (p.Pro2869Leu)
|
rs374318917
|
0.00001
|
|
NM_001035.3(RYR2):c.8621A>G (p.Tyr2874Cys)
|
rs1481998485
|
0.00001
|
|
NM_001035.3(RYR2):c.8681A>G (p.Lys2894Arg)
|
rs1374749880
|
0.00001
|
|
NM_001035.3(RYR2):c.8791C>T (p.Arg2931Cys)
|
rs777983238
|
0.00001
|
|
NM_001035.3(RYR2):c.881C>T (p.Pro294Leu)
|
rs750542606
|
0.00001
|
|
NM_001035.3(RYR2):c.893G>A (p.Arg298His)
|
rs754259295
|
0.00001
|
|
NM_001035.3(RYR2):c.8956G>A (p.Ala2986Thr)
|
rs745482544
|
0.00001
|
|
NM_001035.3(RYR2):c.8993A>G (p.Asn2998Ser)
|
rs1243409978
|
0.00001
|
|
NM_001035.3(RYR2):c.9050A>G (p.His3017Arg)
|
rs777560001
|
0.00001
|
|
NM_001035.3(RYR2):c.9052A>G (p.Arg3018Gly)
|
rs748968052
|
0.00001
|
|
NM_001035.3(RYR2):c.9138G>A (p.Met3046Ile)
|
rs867521152
|
0.00001
|
|
NM_001035.3(RYR2):c.916T>G (p.Leu306Val)
|
rs1159486360
|
0.00001
|
|
NM_001035.3(RYR2):c.9329A>C (p.Glu3110Ala)
|
rs1419674808
|
0.00001
|
|
NM_001035.3(RYR2):c.9367+3A>G
|
rs767212566
|
0.00001
|
|
NM_001035.3(RYR2):c.9407G>A (p.Ser3136Asn)
|
rs748194372
|
0.00001
|
|
NM_001035.3(RYR2):c.9425C>A (p.Thr3142Asn)
|
rs1299273877
|
0.00001
|
|
NM_001035.3(RYR2):c.9449+3A>G
|
rs1688012992
|
0.00001
|
|
NM_001035.3(RYR2):c.9454C>T (p.Arg3152Cys)
|
rs181105904
|
0.00001
|
|
NM_001035.3(RYR2):c.9506C>T (p.Ala3169Val)
|
rs1411593172
|
0.00001
|
|
NM_001035.3(RYR2):c.9551A>G (p.Tyr3184Cys)
|
rs772804208
|
0.00001
|
|
NM_001035.3(RYR2):c.95A>C (p.Gln32Pro)
|
rs909314611
|
0.00001
|
|
NM_001035.3(RYR2):c.9625C>A (p.Pro3209Thr)
|
rs767375014
|
0.00001
|
|
NM_001035.3(RYR2):c.9626C>T (p.Pro3209Leu)
|
rs956317332
|
0.00001
|
|
NM_001035.3(RYR2):c.9669G>C (p.Glu3223Asp)
|
rs377626309
|
0.00001
|
|
NM_001035.3(RYR2):c.9680G>A (p.Arg3227His)
|
rs755897867
|
0.00001
|
|
NM_001035.3(RYR2):c.9686C>T (p.Thr3229Ile)
|
rs1688441480
|
0.00001
|
|
NM_001035.3(RYR2):c.9691A>G (p.Met3231Val)
|
rs374899980
|
0.00001
|
|
NM_001035.3(RYR2):c.9692T>C (p.Met3231Thr)
|
rs1472732790
|
0.00001
|
|
NM_001035.3(RYR2):c.9703A>G (p.Met3235Val)
|
rs773957909
|
0.00001
|
|
NM_001035.3(RYR2):c.9742C>T (p.Arg3248Cys)
|
rs1290534109
|
0.00001
|
|
NM_001035.3(RYR2):c.9772C>T (p.Pro3258Ser)
|
rs368028300
|
0.00001
|
|
NM_001035.3(RYR2):c.9779G>A (p.Arg3260Gln)
|
rs750415021
|
0.00001
|
|
NM_001035.3(RYR2):c.985T>C (p.Phe329Leu)
|
rs911638241
|
0.00001
|
|
NM_001035.3(RYR2):c.9872A>T (p.Asp3291Val)
|
rs1209752961
|
0.00001
|
|
NM_001035.3(RYR2):c.9874G>A (p.Glu3292Lys)
|
rs553445235
|
0.00001
|
|
NM_001035.3(RYR2):c.9911A>G (p.Gln3304Arg)
|
rs794728766
|
0.00001
|
|
NM_001035.3(RYR2):c.994C>T (p.Arg332Trp)
|
rs876657995
|
0.00001
|
|
NM_001035.3(RYR2):c.995G>A (p.Arg332Gln)
|
rs1558793119
|
0.00001
|
|
NM_001035.3(RYR2):c.9962C>T (p.Pro3321Leu)
|
rs747933306
|
0.00001
|
|
NM_001035.3(RYR2):c.9995C>T (p.Thr3332Met)
|
rs774437805
|
0.00001
|
|
NM_001042475.3(CEP85L):c.1020+17347A>G
|
rs1230141633
|
0.00001
|
|
NM_001103.4(ACTN2):c.1154A>T (p.Tyr385Phe)
|
rs929710704
|
0.00001
|
|
NM_001103.4(ACTN2):c.1181G>A (p.Arg394Gln)
|
rs758358941
|
0.00001
|
|
NM_001103.4(ACTN2):c.1239C>G (p.His413Gln)
|
rs771579640
|
0.00001
|
|
NM_001103.4(ACTN2):c.12A>G (p.Ile4Met)
|
rs781720338
|
0.00001
|
|
NM_001103.4(ACTN2):c.1342G>A (p.Glu448Lys)
|
rs764031568
|
0.00001
|
|
NM_001103.4(ACTN2):c.1358C>G (p.Ala453Gly)
|
rs566860712
|
0.00001
|
|
NM_001103.4(ACTN2):c.136G>T (p.Ala46Ser)
|
rs1311487466
|
0.00001
|
|
NM_001103.4(ACTN2):c.1418A>G (p.Tyr473Cys)
|
rs957128342
|
0.00001
|
|
NM_001103.4(ACTN2):c.1475G>A (p.Arg492Gln)
|
rs779702876
|
0.00001
|
|
NM_001103.4(ACTN2):c.1511T>C (p.Leu504Pro)
|
rs1659281594
|
0.00001
|
|
NM_001103.4(ACTN2):c.1538C>A (p.Thr513Asn)
|
rs749178520
|
0.00001
|
|
NM_001103.4(ACTN2):c.1609G>A (p.Glu537Lys)
|
rs1401807611
|
0.00001
|
|
NM_001103.4(ACTN2):c.1626G>A (p.Met542Ile)
|
rs1193302872
|
0.00001
|
|
NM_001103.4(ACTN2):c.1715G>A (p.Arg572Gln)
|
rs141434302
|
0.00001
|
|
NM_001103.4(ACTN2):c.1726A>G (p.Met576Val)
|
rs764719024
|
0.00001
|
|
NM_001103.4(ACTN2):c.1789A>C (p.Asn597His)
|
rs1262131275
|
0.00001
|
|
NM_001103.4(ACTN2):c.1799G>A (p.Ser600Asn)
|
rs794728968
|
0.00001
|
|
NM_001103.4(ACTN2):c.1891C>T (p.Arg631Cys)
|
rs1446087607
|
0.00001
|
|
NM_001103.4(ACTN2):c.1906G>A (p.Glu636Lys)
|
rs780431842
|
0.00001
|
|
NM_001103.4(ACTN2):c.1945A>G (p.Ile649Val)
|
rs759422747
|
0.00001
|
|
NM_001103.4(ACTN2):c.1952C>T (p.Pro651Leu)
|
rs752552408
|
0.00001
|
|
NM_001103.4(ACTN2):c.1978A>T (p.Ile660Phe)
|
rs768670466
|
0.00001
|
|
NM_001103.4(ACTN2):c.19G>A (p.Gly7Ser)
|
rs1057523721
|
0.00001
|
|
NM_001103.4(ACTN2):c.2143T>C (p.Tyr715His)
|
rs142922067
|
0.00001
|
|
NM_001103.4(ACTN2):c.2155-3T>C
|
rs764437378
|
0.00001
|
|
NM_001103.4(ACTN2):c.2210A>C (p.Glu737Ala)
|
rs982200490
|
0.00001
|
|
NM_001103.4(ACTN2):c.2387G>A (p.Arg796His)
|
rs772409484
|
0.00001
|
|
NM_001103.4(ACTN2):c.241+2T>C
|
rs1278815500
|
0.00001
|
|
NM_001103.4(ACTN2):c.242-3C>T
|
rs770703958
|
0.00001
|
|
NM_001103.4(ACTN2):c.244G>A (p.Glu82Lys)
|
rs139424431
|
0.00001
|
|
NM_001103.4(ACTN2):c.2554C>T (p.Arg852Trp)
|
rs745317077
|
0.00001
|
|
NM_001103.4(ACTN2):c.2569G>C (p.Asp857His)
|
rs533267299
|
0.00001
|
|
NM_001103.4(ACTN2):c.2596A>T (p.Met866Leu)
|
rs1395445136
|
0.00001
|
|
NM_001103.4(ACTN2):c.2609C>T (p.Ser870Leu)
|
rs368754823
|
0.00001
|
|
NM_001103.4(ACTN2):c.2612G>T (p.Gly871Val)
|
rs370341149
|
0.00001
|
|
NM_001103.4(ACTN2):c.2621G>A (p.Ser874Asn)
|
rs1285035538
|
0.00001
|
|
NM_001103.4(ACTN2):c.2629G>T (p.Gly877Cys)
|
rs754834889
|
0.00001
|
|
NM_001103.4(ACTN2):c.2632G>A (p.Ala878Thr)
|
rs1270659015
|
0.00001
|
|
NM_001103.4(ACTN2):c.2671G>T (p.Glu891Ter)
|
rs1177830945
|
0.00001
|
|
NM_001103.4(ACTN2):c.32A>G (p.Asn11Ser)
|
rs1449856891
|
0.00001
|
|
NM_001103.4(ACTN2):c.427A>C (p.Ile143Leu)
|
rs786205453
|
0.00001
|
|
NM_001103.4(ACTN2):c.550C>T (p.Leu184Phe)
|
rs1405476528
|
0.00001
|
|
NM_001103.4(ACTN2):c.574C>T (p.Arg192Ter)
|
rs1253211384
|
0.00001
|
|
NM_001103.4(ACTN2):c.581G>A (p.Arg194Gln)
|
rs528123945
|
0.00001
|
|
NM_001103.4(ACTN2):c.616-3C>T
|
rs111464645
|
0.00001
|
|
NM_001103.4(ACTN2):c.706A>G (p.Asn236Asp)
|
rs1193355360
|
0.00001
|
|
NM_001103.4(ACTN2):c.775G>A (p.Ala259Thr)
|
rs574401232
|
0.00001
|
|
NM_001103.4(ACTN2):c.776C>T (p.Ala259Val)
|
rs566552494
|
0.00001
|
|
NM_001103.4(ACTN2):c.950A>G (p.Gln317Arg)
|
rs970567732
|
0.00001
|
|
NM_001103.4(ACTN2):c.955A>G (p.Lys319Glu)
|
rs754614411
|
0.00001
|
|
NM_001103.4(ACTN2):c.970C>T (p.Arg324Trp)
|
rs747674727
|
0.00001
|
|
NM_001105206.3(LAMA4):c.1103A>G (p.Gln368Arg)
|
rs1333653374
|
0.00001
|
|
NM_001105206.3(LAMA4):c.1105C>A (p.Leu369Ile)
|
rs1291328403
|
0.00001
|
|
NM_001105206.3(LAMA4):c.1121G>A (p.Ser374Asn)
|
rs869025449
|
0.00001
|
|
NM_001105206.3(LAMA4):c.1252G>A (p.Glu418Lys)
|
rs1159049821
|
0.00001
|
|
NM_001105206.3(LAMA4):c.1297C>T (p.Arg433Cys)
|
rs1405779338
|
0.00001
|
|
NM_001105206.3(LAMA4):c.1310T>C (p.Phe437Ser)
|
rs782766851
|
0.00001
|
|
NM_001105206.3(LAMA4):c.1319G>A (p.Arg440Gln)
|
rs1052880266
|
0.00001
|
|
NM_001105206.3(LAMA4):c.1327G>A (p.Val443Met)
|
rs371650107
|
0.00001
|
|
NM_001105206.3(LAMA4):c.133del (p.Gln45fs)
|
rs1341828711
|
0.00001
|
|
NM_001105206.3(LAMA4):c.1357+1G>A
|
rs1057524730
|
0.00001
|
|
NM_001105206.3(LAMA4):c.1364G>T (p.Ser455Ile)
|
rs782547342
|
0.00001
|
|
NM_001105206.3(LAMA4):c.1394A>G (p.Asn465Ser)
|
rs1315842790
|
0.00001
|
|
NM_001105206.3(LAMA4):c.1402C>T (p.Arg468Cys)
|
rs781834628
|
0.00001
|
|
NM_001105206.3(LAMA4):c.1436A>T (p.Asp479Val)
|
rs781939403
|
0.00001
|
|
NM_001105206.3(LAMA4):c.1455G>T (p.Leu485Phe)
|
rs782305599
|
0.00001
|
|
NM_001105206.3(LAMA4):c.1456T>A (p.Ser486Thr)
|
rs1419996220
|
0.00001
|
|
NM_001105206.3(LAMA4):c.14C>T (p.Ser5Leu)
|
rs1554190586
|
0.00001
|
|
NM_001105206.3(LAMA4):c.1525A>C (p.Thr509Pro)
|
rs951225457
|
0.00001
|
|
NM_001105206.3(LAMA4):c.153C>A (p.Ser51Arg)
|
rs782192817
|
0.00001
|
|
NM_001105206.3(LAMA4):c.1582G>A (p.Glu528Lys)
|
rs782385471
|
0.00001
|
|
NM_001105206.3(LAMA4):c.1604G>A (p.Ser535Asn)
|
rs782574835
|
0.00001
|
|
NM_001105206.3(LAMA4):c.1643T>C (p.Leu548Pro)
|
rs1562683086
|
0.00001
|
|
NM_001105206.3(LAMA4):c.1661T>C (p.Ile554Thr)
|
rs535664944
|
0.00001
|
|
NM_001105206.3(LAMA4):c.1726C>G (p.Leu576Val)
|
rs782074007
|
0.00001
|
|
NM_001105206.3(LAMA4):c.1744C>G (p.Leu582Val)
|
rs782299829
|
0.00001
|
|
NM_001105206.3(LAMA4):c.1834G>A (p.Asp612Asn)
|
rs201484136
|
0.00001
|
|
NM_001105206.3(LAMA4):c.1835A>T (p.Asp612Val)
|
rs782157527
|
0.00001
|
|
NM_001105206.3(LAMA4):c.1867G>A (p.Ala623Thr)
|
rs782574915
|
0.00001
|
|
NM_001105206.3(LAMA4):c.188C>T (p.Ala63Val)
|
rs370868386
|
0.00001
|
|
NM_001105206.3(LAMA4):c.1994A>C (p.His665Pro)
|
rs781986112
|
0.00001
|
|
NM_001105206.3(LAMA4):c.2026G>A (p.Ala676Thr)
|
rs397516721
|
0.00001
|
|
NM_001105206.3(LAMA4):c.203A>G (p.Asn68Ser)
|
rs782428669
|
0.00001
|
|
NM_001105206.3(LAMA4):c.215T>C (p.Phe72Ser)
|
rs782510666
|
0.00001
|
|
NM_001105206.3(LAMA4):c.2188C>T (p.Arg730Cys)
|
rs782482395
|
0.00001
|
|
NM_001105206.3(LAMA4):c.2195G>A (p.Gly732Glu)
|
rs781889038
|
0.00001
|
|
NM_001105206.3(LAMA4):c.2203A>G (p.Arg735Gly)
|
rs552625719
|
0.00001
|
|
NM_001105206.3(LAMA4):c.2215G>A (p.Glu739Lys)
|
rs727504935
|
0.00001
|
|
NM_001105206.3(LAMA4):c.227C>T (p.Ser76Leu)
|
rs1554358711
|
0.00001
|
|
NM_001105206.3(LAMA4):c.2309A>G (p.Asp770Gly)
|
rs1179713276
|
0.00001
|
|
NM_001105206.3(LAMA4):c.2465T>C (p.Ile822Thr)
|
rs369962703
|
0.00001
|
|
NM_001105206.3(LAMA4):c.2506A>G (p.Met836Val)
|
rs184539670
|
0.00001
|
|
NM_001105206.3(LAMA4):c.2514T>G (p.Phe838Leu)
|
rs781920620
|
0.00001
|
|
NM_001105206.3(LAMA4):c.2527G>C (p.Ala843Pro)
|
rs536755553
|
0.00001
|
|
NM_001105206.3(LAMA4):c.2543C>T (p.Ser848Leu)
|
rs782005555
|
0.00001
|
|
NM_001105206.3(LAMA4):c.2568G>C (p.Lys856Asn)
|
rs144433625
|
0.00001
|
|
NM_001105206.3(LAMA4):c.2576C>T (p.Thr859Met)
|
rs730880121
|
0.00001
|
|
NM_001105206.3(LAMA4):c.2600C>A (p.Pro867His)
|
rs1309469746
|
0.00001
|
|
NM_001105206.3(LAMA4):c.2615C>T (p.Pro872Leu)
|
rs375497091
|
0.00001
|
|
NM_001105206.3(LAMA4):c.2665A>C (p.Asn889His)
|
rs782532289
|
0.00001
|
|
NM_001105206.3(LAMA4):c.2667+4A>G
|
rs1554333423
|
0.00001
|
|
NM_001105206.3(LAMA4):c.2667C>T (p.Asn889=)
|
rs112224872
|
0.00001
|
|
NM_001105206.3(LAMA4):c.2762C>A (p.Ser921Tyr)
|
rs782424587
|
0.00001
|
|
NM_001105206.3(LAMA4):c.2849C>T (p.Pro950Leu)
|
rs387907365
|
0.00001
|
|
NM_001105206.3(LAMA4):c.2994C>A (p.Asn998Lys)
|
rs782063568
|
0.00001
|
|
NM_001105206.3(LAMA4):c.3046A>C (p.Ile1016Leu)
|
rs371942674
|
0.00001
|
|
NM_001105206.3(LAMA4):c.3137G>A (p.Arg1046Gln)
|
rs782026501
|
0.00001
|
|
NM_001105206.3(LAMA4):c.3245C>T (p.Pro1082Leu)
|
rs782040284
|
0.00001
|
|
NM_001105206.3(LAMA4):c.3308G>A (p.Arg1103His)
|
rs782568532
|
0.00001
|
|
NM_001105206.3(LAMA4):c.3311A>G (p.Asn1104Ser)
|
rs542157463
|
0.00001
|
|
NM_001105206.3(LAMA4):c.3337T>G (p.Phe1113Val)
|
rs1187379113
|
0.00001
|
|
NM_001105206.3(LAMA4):c.335A>G (p.Lys112Arg)
|
rs370001919
|
0.00001
|
|
NM_001105206.3(LAMA4):c.3365T>C (p.Leu1122Pro)
|
rs189581734
|
0.00001
|
|
NM_001105206.3(LAMA4):c.343G>A (p.Asp115Asn)
|
rs781919095
|
0.00001
|
|
NM_001105206.3(LAMA4):c.355G>A (p.Gly119Arg)
|
rs147016335
|
0.00001
|
|
NM_001105206.3(LAMA4):c.3574C>T (p.Leu1192Phe)
|
rs181787647
|
0.00001
|
|
NM_001105206.3(LAMA4):c.3667G>T (p.Val1223Phe)
|
rs781868927
|
0.00001
|
|
NM_001105206.3(LAMA4):c.3793A>G (p.Thr1265Ala)
|
rs1179163721
|
0.00001
|
|
NM_001105206.3(LAMA4):c.3841G>A (p.Val1281Met)
|
rs184696189
|
0.00001
|
|
NM_001105206.3(LAMA4):c.3946A>G (p.Ile1316Val)
|
rs782046057
|
0.00001
|
|
NM_001105206.3(LAMA4):c.3964A>G (p.Thr1322Ala)
|
rs1240965450
|
0.00001
|
|
NM_001105206.3(LAMA4):c.4008G>C (p.Lys1336Asn)
|
rs373047072
|
0.00001
|
|
NM_001105206.3(LAMA4):c.4052A>G (p.Lys1351Arg)
|
rs876657843
|
0.00001
|
|
NM_001105206.3(LAMA4):c.4059T>A (p.Phe1353Leu)
|
rs782273793
|
0.00001
|
|
NM_001105206.3(LAMA4):c.4078A>G (p.Ile1360Val)
|
rs1219695312
|
0.00001
|
|
NM_001105206.3(LAMA4):c.4088A>G (p.Gln1363Arg)
|
rs782230925
|
0.00001
|
|
NM_001105206.3(LAMA4):c.4111A>C (p.Ile1371Leu)
|
rs974775253
|
0.00001
|
|
NM_001105206.3(LAMA4):c.4135G>A (p.Val1379Met)
|
rs782165947
|
0.00001
|
|
NM_001105206.3(LAMA4):c.4198T>A (p.Tyr1400Asn)
|
rs781815955
|
0.00001
|
|
NM_001105206.3(LAMA4):c.4223C>T (p.Pro1408Leu)
|
rs148968696
|
0.00001
|
|
NM_001105206.3(LAMA4):c.4249A>G (p.Lys1417Glu)
|
rs782167326
|
0.00001
|
|
NM_001105206.3(LAMA4):c.4328C>T (p.Ala1443Val)
|
rs782696599
|
0.00001
|
|
NM_001105206.3(LAMA4):c.4379C>T (p.Ser1460Phe)
|
rs1778396540
|
0.00001
|
|
NM_001105206.3(LAMA4):c.4402C>T (p.His1468Tyr)
|
rs1562631261
|
0.00001
|
|
NM_001105206.3(LAMA4):c.4435C>T (p.Arg1479Cys)
|
rs968146909
|
0.00001
|
|
NM_001105206.3(LAMA4):c.4492C>T (p.Arg1498Cys)
|
rs782368185
|
0.00001
|
|
NM_001105206.3(LAMA4):c.4505G>A (p.Arg1502His)
|
rs781976795
|
0.00001
|
|
NM_001105206.3(LAMA4):c.4601A>G (p.Asn1534Ser)
|
rs782057429
|
0.00001
|
|
NM_001105206.3(LAMA4):c.4607G>T (p.Gly1536Val)
|
rs368316926
|
0.00001
|
|
NM_001105206.3(LAMA4):c.4616A>T (p.Lys1539Ile)
|
rs782423587
|
0.00001
|
|
NM_001105206.3(LAMA4):c.4681G>A (p.Glu1561Lys)
|
rs782515490
|
0.00001
|
|
NM_001105206.3(LAMA4):c.4708G>T (p.Asp1570Tyr)
|
rs199938033
|
0.00001
|
|
NM_001105206.3(LAMA4):c.4724T>C (p.Leu1575Pro)
|
rs372502180
|
0.00001
|
|
NM_001105206.3(LAMA4):c.4726G>C (p.Glu1576Gln)
|
rs782123488
|
0.00001
|
|
NM_001105206.3(LAMA4):c.4786G>A (p.Gly1596Ser)
|
rs373949918
|
0.00001
|
|
NM_001105206.3(LAMA4):c.4870A>C (p.Asn1624His)
|
rs587693487
|
0.00001
|
|
NM_001105206.3(LAMA4):c.4883T>G (p.Ile1628Ser)
|
rs145001856
|
0.00001
|
|
NM_001105206.3(LAMA4):c.4982-3del
|
rs727505356
|
0.00001
|
|
NM_001105206.3(LAMA4):c.5035A>G (p.Arg1679Gly)
|
rs781995760
|
0.00001
|
|
NM_001105206.3(LAMA4):c.5047G>A (p.Gly1683Arg)
|
rs782085833
|
0.00001
|
|
NM_001105206.3(LAMA4):c.5062G>A (p.Gly1688Ser)
|
rs782194407
|
0.00001
|
|
NM_001105206.3(LAMA4):c.509C>T (p.Ala170Val)
|
rs1351676576
|
0.00001
|
|
NM_001105206.3(LAMA4):c.5129A>G (p.Asn1710Ser)
|
rs1219557048
|
0.00001
|
|
NM_001105206.3(LAMA4):c.5186G>A (p.Gly1729Asp)
|
rs782531723
|
0.00001
|
|
NM_001105206.3(LAMA4):c.5206+1G>A
|
rs368035482
|
0.00001
|
|
NM_001105206.3(LAMA4):c.5288T>C (p.Ile1763Thr)
|
rs782557878
|
0.00001
|
|
NM_001105206.3(LAMA4):c.5383C>T (p.His1795Tyr)
|
rs782153502
|
0.00001
|
|
NM_001105206.3(LAMA4):c.5384A>C (p.His1795Pro)
|
rs1777578953
|
0.00001
|
|
NM_001105206.3(LAMA4):c.5398G>A (p.Gly1800Arg)
|
rs782385919
|
0.00001
|
|
NM_001105206.3(LAMA4):c.59C>T (p.Ala20Val)
|
rs1060500981
|
0.00001
|
|
NM_001105206.3(LAMA4):c.640C>T (p.Arg214Cys)
|
rs148801194
|
0.00001
|
|
NM_001105206.3(LAMA4):c.676C>T (p.Pro226Ser)
|
rs201820268
|
0.00001
|
|
NM_001105206.3(LAMA4):c.757G>A (p.Gly253Arg)
|
rs377633183
|
0.00001
|
|
NM_001105206.3(LAMA4):c.764G>A (p.Cys255Tyr)
|
rs1554347691
|
0.00001
|
|
NM_001105206.3(LAMA4):c.851T>C (p.Leu284Pro)
|
rs1424343942
|
0.00001
|
|
NM_001105206.3(LAMA4):c.913G>A (p.Ala305Thr)
|
rs782325733
|
0.00001
|
|
NM_001105206.3(LAMA4):c.92C>T (p.Ala31Val)
|
rs782705643
|
0.00001
|
|
NM_001105206.3(LAMA4):c.944A>G (p.Asn315Ser)
|
rs1029188462
|
0.00001
|
|
NM_001105206.3(LAMA4):c.985G>C (p.Glu329Gln)
|
rs1554346363
|
0.00001
|
|
NM_001122630.2(CDKN1C):c.-10-13C>T
|
rs201368350
|
0.00001
|
|
NM_001122630.2(CDKN1C):c.-10-17G>A
|
rs1452796504
|
0.00001
|
|
NM_001122630.2(CDKN1C):c.-10-20T>G
|
rs748680303
|
0.00001
|
|
NM_001122630.2(CDKN1C):c.-8C>T
|
rs1300493378
|
0.00001
|
|
NM_001122630.2(CDKN1C):c.130G>T (p.Ala44Ser)
|
rs1013973901
|
0.00001
|
|
NM_001122630.2(CDKN1C):c.165G>T (p.Gln55His)
|
rs1424141761
|
0.00001
|
|
NM_001122630.2(CDKN1C):c.206C>T (p.Thr69Ile)
|
rs1475576590
|
0.00001
|
|
NM_001122630.2(CDKN1C):c.232G>A (p.Ala78Thr)
|
rs1177512372
|
0.00001
|
|
NM_001122630.2(CDKN1C):c.250G>A (p.Val84Met)
|
rs762106424
|
0.00001
|
|
NM_001122630.2(CDKN1C):c.260G>A (p.Gly87Glu)
|
rs1398439636
|
0.00001
|
|
NM_001122630.2(CDKN1C):c.262C>T (p.Arg88Cys)
|
rs1356534188
|
0.00001
|
|
NM_001122630.2(CDKN1C):c.295G>T (p.Ala99Ser)
|
rs1848965651
|
0.00001
|
|
NM_001122630.2(CDKN1C):c.314G>A (p.Ser105Asn)
|
rs1197769841
|
0.00001
|
|
NM_001122630.2(CDKN1C):c.314G>T (p.Ser105Ile)
|
rs1197769841
|
0.00001
|
|
NM_001122630.2(CDKN1C):c.322C>T (p.Leu108Phe)
|
rs1323156745
|
0.00001
|
|
NM_001122630.2(CDKN1C):c.331G>A (p.Ala111Thr)
|
rs551863674
|
0.00001
|
|
NM_001122630.2(CDKN1C):c.355G>A (p.Glu119Lys)
|
rs1564930265
|
0.00001
|
|
NM_001122630.2(CDKN1C):c.362C>T (p.Ala121Val)
|
rs1364155293
|
0.00001
|
|
NM_001122630.2(CDKN1C):c.364C>T (p.Pro122Ser)
|
rs1192914687
|
0.00001
|
|
NM_001122630.2(CDKN1C):c.365C>T (p.Pro122Leu)
|
rs1590150577
|
0.00001
|
|
NM_001122630.2(CDKN1C):c.377C>T (p.Pro126Leu)
|
rs1445830484
|
0.00001
|
|
NM_001122630.2(CDKN1C):c.382G>A (p.Val128Ile)
|
rs1183623363
|
0.00001
|
|
NM_001122630.2(CDKN1C):c.440C>T (p.Pro147Leu)
|
rs1320293569
|
0.00001
|
|
NM_001122630.2(CDKN1C):c.443C>T (p.Ala148Val)
|
rs372633
|
0.00001
|
|
NM_001122630.2(CDKN1C):c.446C>T (p.Pro149Leu)
|
rs1848950838
|
0.00001
|
|
NM_001122630.2(CDKN1C):c.457C>G (p.Pro153Ala)
|
rs1323691763
|
0.00001
|
|
NM_001122630.2(CDKN1C):c.47C>T (p.Thr16Ile)
|
rs1282995815
|
0.00001
|
|
NM_001122630.2(CDKN1C):c.481C>G (p.Pro161Ala)
|
rs1342240264
|
0.00001
|
|
NM_001122630.2(CDKN1C):c.49A>G (p.Ser17Gly)
|
rs1316822895
|
0.00001
|
|
NM_001122630.2(CDKN1C):c.509C>T (p.Ala170Val)
|
rs1332953428
|
0.00001
|
|
NM_001122630.2(CDKN1C):c.518C>T (p.Pro173Leu)
|
rs1050598447
|
0.00001
|
|
NM_001122630.2(CDKN1C):c.530C>T (p.Pro177Leu)
|
rs1370733962
|
0.00001
|
|
NM_001122630.2(CDKN1C):c.537G>A (p.Pro179=)
|
rs550978405
|
0.00001
|
|
NM_001122630.2(CDKN1C):c.548C>T (p.Pro183Leu)
|
rs1458423964
|
0.00001
|
|
NM_001122630.2(CDKN1C):c.560C>T (p.Pro187Leu)
|
rs2583439
|
0.00001
|
|
NM_001122630.2(CDKN1C):c.578C>T (p.Pro193Leu)
|
rs2583440
|
0.00001
|
|
NM_001122630.2(CDKN1C):c.584C>G (p.Pro195Arg)
|
rs1182342
|
0.00001
|
|
NM_001122630.2(CDKN1C):c.58C>T (p.Arg20Cys)
|
rs1467420956
|
0.00001
|
|
NM_001122630.2(CDKN1C):c.631G>C (p.Glu211Gln)
|
rs775889163
|
0.00001
|
|
NM_001122630.2(CDKN1C):c.676C>T (p.Pro226Ser)
|
rs1240280374
|
0.00001
|
|
NM_001122630.2(CDKN1C):c.679C>T (p.Leu227Phe)
|
rs878853640
|
0.00001
|
|
NM_001122630.2(CDKN1C):c.737C>G (p.Ala246Gly)
|
rs878853642
|
0.00001
|
|
NM_001122630.2(CDKN1C):c.742G>T (p.Ala248Ser)
|
rs773881541
|
0.00001
|
|
NM_001122630.2(CDKN1C):c.746A>G (p.Asn249Ser)
|
rs1282204263
|
0.00001
|
|
NM_001122630.2(CDKN1C):c.748G>A (p.Gly250Ser)
|
rs768242627
|
0.00001
|
|
NM_001122630.2(CDKN1C):c.751G>A (p.Ala251Thr)
|
rs1300586071
|
0.00001
|
|
NM_001122630.2(CDKN1C):c.767T>C (p.Leu256Pro)
|
rs1254038235
|
0.00001
|
|
NM_001122630.2(CDKN1C):c.769T>A (p.Ser257Thr)
|
rs781340171
|
0.00001
|
|
NM_001122630.2(CDKN1C):c.772G>C (p.Gly258Arg)
|
rs1275242295
|
0.00001
|
|
NM_001122630.2(CDKN1C):c.786C>T (p.Ser262=)
|
rs1430282098
|
0.00001
|
|
NM_001122630.2(CDKN1C):c.797C>T (p.Ala266Val)
|
rs1307229121
|
0.00001
|
|
NM_001122630.2(CDKN1C):c.832G>A (p.Gly278Ser)
|
rs1391074477
|
0.00001
|
|
NM_001122630.2(CDKN1C):c.838G>A (p.Val280Ile)
|
rs1166638899
|
0.00001
|
|
NM_001122630.2(CDKN1C):c.844G>A (p.Ala282Thr)
|
rs1848879371
|
0.00001
|
|
NM_001122630.2(CDKN1C):c.865G>T (p.Ala289Ser)
|
rs755160554
|
0.00001
|
|
NM_001122630.2(CDKN1C):c.881G>T (p.Gly294Val)
|
rs962524119
|
0.00001
|
|
NM_001122630.2(CDKN1C):c.97C>T (p.Arg33Cys)
|
rs956525226
|
0.00001
|
|
NM_001130965.3(SUN1):c.1018A>G (p.Lys340Glu)
|
rs770728287
|
0.00001
|
|
NM_001130965.3(SUN1):c.1072C>A (p.Pro358Thr)
|
rs1402655652
|
0.00001
|
|
NM_001130965.3(SUN1):c.1075T>G (p.Trp359Gly)
|
rs1824104633
|
0.00001
|
|
NM_001130965.3(SUN1):c.1112C>T (p.Ser371Phe)
|
rs779987779
|
0.00001
|
|
NM_001130965.3(SUN1):c.1195C>T (p.Gln399Ter)
|
rs1287838591
|
0.00001
|
|
NM_001130965.3(SUN1):c.1270T>C (p.Phe424Leu)
|
rs548117640
|
0.00001
|
|
NM_001130965.3(SUN1):c.1400T>C (p.Val467Ala)
|
rs1191867046
|
0.00001
|
|
NM_001130965.3(SUN1):c.1483G>A (p.Val495Met)
|
rs750763397
|
0.00001
|
|
NM_001130965.3(SUN1):c.148C>T (p.Arg50Trp)
|
rs1019819580
|
0.00001
|
|
NM_001130965.3(SUN1):c.1582G>T (p.Gly528Cys)
|
rs549897796
|
0.00001
|
|
NM_001130965.3(SUN1):c.1634G>T (p.Gly545Val)
|
rs751586546
|
0.00001
|
|
NM_001130965.3(SUN1):c.1679G>A (p.Arg560Gln)
|
rs374707736
|
0.00001
|
|
NM_001130965.3(SUN1):c.1696G>A (p.Val566Ile)
|
rs910379771
|
0.00001
|
|
NM_001130965.3(SUN1):c.16C>A (p.Leu6Ile)
|
rs777969470
|
0.00001
|
|
NM_001130965.3(SUN1):c.1749C>T (p.Ser583=)
|
rs780539401
|
0.00001
|
|
NM_001130965.3(SUN1):c.189C>T (p.Cys63=)
|
rs764562577
|
0.00001
|
|
NM_001130965.3(SUN1):c.1955C>T (p.Ser652Leu)
|
rs747017149
|
0.00001
|
|
NM_001130965.3(SUN1):c.2140G>A (p.Ala714Thr)
|
rs759639292
|
0.00001
|
|
NM_001130965.3(SUN1):c.2254G>A (p.Asp752Asn)
|
rs768700424
|
0.00001
|
|
NM_001130965.3(SUN1):c.2281C>T (p.Arg761Trp)
|
rs769875681
|
0.00001
|
|
NM_001130965.3(SUN1):c.2348C>A (p.Pro783His)
|
rs755364227
|
0.00001
|
|
NM_001130965.3(SUN1):c.238G>A (p.Ala80Thr)
|
rs775882448
|
0.00001
|
|
NM_001130965.3(SUN1):c.296A>G (p.Lys99Arg)
|
rs1203009448
|
0.00001
|
|
NM_001130965.3(SUN1):c.346G>A (p.Val116Ile)
|
rs374613091
|
0.00001
|
|
NM_001130965.3(SUN1):c.368G>C (p.Ser123Thr)
|
rs1320668240
|
0.00001
|
|
NM_001130965.3(SUN1):c.536C>T (p.Ala179Val)
|
rs368473097
|
0.00001
|
|
NM_001130965.3(SUN1):c.592C>T (p.Leu198Phe)
|
rs778995671
|
0.00001
|
|
NM_001130965.3(SUN1):c.607G>A (p.Ala203Thr)
|
rs370867004
|
0.00001
|
|
NM_001130965.3(SUN1):c.616G>A (p.Gly206Arg)
|
rs375261890
|
0.00001
|
|
NM_001130965.3(SUN1):c.656A>T (p.Lys219Ile)
|
rs774555940
|
0.00001
|
|
NM_001130965.3(SUN1):c.682C>T (p.Arg228Cys)
|
rs772936422
|
0.00001
|
|
NM_001130965.3(SUN1):c.767C>T (p.Ala256Val)
|
rs775206908
|
0.00001
|
|
NM_001130965.3(SUN1):c.773G>T (p.Gly258Val)
|
rs1423385703
|
0.00001
|
|
NM_001130965.3(SUN1):c.815C>G (p.Thr272Ser)
|
rs565641706
|
0.00001
|
|
NM_001130965.3(SUN1):c.852-7C>G
|
rs372242822
|
0.00001
|
|
NM_001130965.3(SUN1):c.914G>A (p.Gly305Asp)
|
rs781390393
|
0.00001
|
|
NM_001130965.3(SUN1):c.934G>A (p.Gly312Ser)
|
rs768858283
|
0.00001
|
|
NM_001130965.3(SUN1):c.938A>G (p.Asn313Ser)
|
rs774636827
|
0.00001
|
|
NM_001130965.3(SUN1):c.947C>T (p.Ser316Leu)
|
rs1445945190
|
0.00001
|
|
NM_001134363.3(RBM20):c.1004C>T (p.Ala335Val)
|
rs765185397
|
0.00001
|
|
NM_001134363.3(RBM20):c.1063C>T (p.Pro355Ser)
|
rs998547889
|
0.00001
|
|
NM_001134363.3(RBM20):c.1136G>A (p.Gly379Glu)
|
rs577020509
|
0.00001
|
|
NM_001134363.3(RBM20):c.1159G>A (p.Ala387Thr)
|
rs886046703
|
0.00001
|
|
NM_001134363.3(RBM20):c.1160C>T (p.Ala387Val)
|
rs919432113
|
0.00001
|
|
NM_001134363.3(RBM20):c.1265T>C (p.Phe422Ser)
|
rs932538273
|
0.00001
|
|
NM_001134363.3(RBM20):c.1276-8T>A
|
rs886046704
|
0.00001
|
|
NM_001134363.3(RBM20):c.1279T>C (p.Trp427Arg)
|
rs1844378725
|
0.00001
|
|
NM_001134363.3(RBM20):c.1329_1331del (p.Ser444del)
|
rs1229525146
|
0.00001
|
|
NM_001134363.3(RBM20):c.1348C>T (p.Arg450Trp)
|
rs886039129
|
0.00001
|
|
NM_001134363.3(RBM20):c.134C>T (p.Pro45Leu)
|
rs1036333804
|
0.00001
|
|
NM_001134363.3(RBM20):c.1384G>A (p.Ala462Thr)
|
rs1285889652
|
0.00001
|
|
NM_001134363.3(RBM20):c.1429+1G>A
|
rs1193393493
|
0.00001
|
|
NM_001134363.3(RBM20):c.1454C>T (p.Ser485Leu)
|
rs764016326
|
0.00001
|
|
NM_001134363.3(RBM20):c.1498A>T (p.Thr500Ser)
|
rs1452282601
|
0.00001
|
|
NM_001134363.3(RBM20):c.1517T>C (p.Val506Ala)
|
rs1590677685
|
0.00001
|
|
NM_001134363.3(RBM20):c.1552C>T (p.Arg518Cys)
|
rs369835514
|
0.00001
|
|
NM_001134363.3(RBM20):c.1658C>T (p.Ser553Leu)
|
rs993569055
|
0.00001
|
|
NM_001134363.3(RBM20):c.16G>A (p.Ala6Thr)
|
rs758772050
|
0.00001
|
|
NM_001134363.3(RBM20):c.1742T>A (p.Ile581Asn)
|
rs1444950975
|
0.00001
|
|
NM_001134363.3(RBM20):c.1747G>A (p.Gly583Ser)
|
rs1209985002
|
0.00001
|
|
NM_001134363.3(RBM20):c.1880+6G>T
|
rs1210149101
|
0.00001
|
|
NM_001134363.3(RBM20):c.1881-1G>C
|
rs1424661837
|
0.00001
|
|
NM_001134363.3(RBM20):c.1881A>G (p.Arg627=)
|
rs1482868696
|
0.00001
|
|
NM_001134363.3(RBM20):c.1894A>G (p.Arg632Gly)
|
rs1470779057
|
0.00001
|
|
NM_001134363.3(RBM20):c.1896G>C (p.Arg632Ser)
|
rs767451635
|
0.00001
|
|
NM_001134363.3(RBM20):c.1898C>T (p.Pro633Leu)
|
rs747880281
|
0.00001
|
|
NM_001134363.3(RBM20):c.1908T>C (p.Arg636=)
|
rs1428731969
|
0.00001
|
|
NM_001134363.3(RBM20):c.1949C>T (p.Pro650Leu)
|
rs899383029
|
0.00001
|
|
NM_001134363.3(RBM20):c.196G>A (p.Ala66Thr)
|
rs1051972948
|
0.00001
|
|
NM_001134363.3(RBM20):c.1982C>G (p.Pro661Arg)
|
rs1251592783
|
0.00001
|
|
NM_001134363.3(RBM20):c.1990C>T (p.Pro664Ser)
|
rs1279998131
|
0.00001
|
|
NM_001134363.3(RBM20):c.2038C>T (p.Pro680Ser)
|
rs1387833836
|
0.00001
|
|
NM_001134363.3(RBM20):c.2072C>T (p.Ala691Val)
|
rs1293517489
|
0.00001
|
|
NM_001134363.3(RBM20):c.2108G>A (p.Arg703Lys)
|
rs397516600
|
0.00001
|
|
NM_001134363.3(RBM20):c.2176C>T (p.Arg726Ter)
|
rs1393804220
|
0.00001
|
|
NM_001134363.3(RBM20):c.2183A>G (p.Glu728Gly)
|
rs1161452943
|
0.00001
|
|
NM_001134363.3(RBM20):c.2193G>C (p.Arg731Ser)
|
rs1475940613
|
0.00001
|
|
NM_001134363.3(RBM20):c.2234T>C (p.Leu745Pro)
|
rs1361123068
|
0.00001
|
|
NM_001134363.3(RBM20):c.2347A>G (p.Arg783Gly)
|
rs1287523613
|
0.00001
|
|
NM_001134363.3(RBM20):c.2351G>T (p.Arg784Met)
|
rs1359372013
|
0.00001
|
|
NM_001134363.3(RBM20):c.2382A>C (p.Arg794Ser)
|
rs999008497
|
0.00001
|
|
NM_001134363.3(RBM20):c.2476A>C (p.Asn826His)
|
rs1844793217
|
0.00001
|
|
NM_001134363.3(RBM20):c.2497A>G (p.Arg833Gly)
|
rs371116877
|
0.00001
|
|
NM_001134363.3(RBM20):c.2565A>C (p.Glu855Asp)
|
rs878854250
|
0.00001
|
|
NM_001134363.3(RBM20):c.2567A>C (p.Gln856Pro)
|
rs1442388691
|
0.00001
|
|
NM_001134363.3(RBM20):c.2676A>C (p.Glu892Asp)
|
rs1447611071
|
0.00001
|
|
NM_001134363.3(RBM20):c.2759T>G (p.Phe920Cys)
|
rs112880805
|
0.00001
|
|
NM_001134363.3(RBM20):c.275C>T (p.Ala92Val)
|
rs1344144278
|
0.00001
|
|
NM_001134363.3(RBM20):c.287C>T (p.Ala96Val)
|
rs1195345503
|
0.00001
|
|
NM_001134363.3(RBM20):c.2942C>T (p.Pro981Leu)
|
rs1460424271
|
0.00001
|
|
NM_001134363.3(RBM20):c.2960C>T (p.Ala987Val)
|
rs1844910564
|
0.00001
|
|
NM_001134363.3(RBM20):c.299T>G (p.Leu100Arg)
|
rs1060503417
|
0.00001
|
|
NM_001134363.3(RBM20):c.3025A>G (p.Lys1009Glu)
|
rs1344905271
|
0.00001
|
|
NM_001134363.3(RBM20):c.303C>A (p.His101Gln)
|
rs1172371194
|
0.00001
|
|
NM_001134363.3(RBM20):c.3040G>T (p.Glu1014Ter)
|
rs1220240959
|
0.00001
|
|
NM_001134363.3(RBM20):c.3097G>A (p.Glu1033Lys)
|
rs1564664608
|
0.00001
|
|
NM_001134363.3(RBM20):c.3119C>G (p.Ala1040Gly)
|
rs878854251
|
0.00001
|
|
NM_001134363.3(RBM20):c.3154G>A (p.Ala1052Thr)
|
rs890053031
|
0.00001
|
|
NM_001134363.3(RBM20):c.3167C>T (p.Ala1056Val)
|
rs947120934
|
0.00001
|
|
NM_001134363.3(RBM20):c.3198C>T (p.Cys1066=)
|
rs1844916348
|
0.00001
|
|
NM_001134363.3(RBM20):c.3205del (p.Arg1069fs)
|
rs1844916553
|
0.00001
|
|
NM_001134363.3(RBM20):c.3315G>A (p.Pro1105=)
|
rs772179438
|
0.00001
|
|
NM_001134363.3(RBM20):c.3440G>C (p.Ser1147Thr)
|
rs542392971
|
0.00001
|
|
NM_001134363.3(RBM20):c.3452G>A (p.Gly1151Glu)
|
rs1185476843
|
0.00001
|
|
NM_001134363.3(RBM20):c.3452G>C (p.Gly1151Ala)
|
rs1185476843
|
0.00001
|
|
NM_001134363.3(RBM20):c.3494T>C (p.Leu1165Pro)
|
rs1341670588
|
0.00001
|
|
NM_001134363.3(RBM20):c.3500G>T (p.Gly1167Val)
|
rs371754487
|
0.00001
|
|
NM_001134363.3(RBM20):c.352A>G (p.Thr118Ala)
|
rs878854253
|
0.00001
|
|
NM_001134363.3(RBM20):c.3571C>A (p.Gln1191Lys)
|
rs1338307495
|
0.00001
|
|
NM_001134363.3(RBM20):c.3578A>G (p.Tyr1193Cys)
|
rs535839168
|
0.00001
|
|
NM_001134363.3(RBM20):c.359del (p.Leu120fs)
|
rs1173576141
|
0.00001
|
|
NM_001134363.3(RBM20):c.3677A>G (p.Lys1226Arg)
|
rs1057524087
|
0.00001
|
|
NM_001134363.3(RBM20):c.397C>G (p.Leu133Val)
|
rs1446238793
|
0.00001
|
|
NM_001134363.3(RBM20):c.404A>G (p.Asn135Ser)
|
rs1460527562
|
0.00001
|
|
NM_001134363.3(RBM20):c.413G>C (p.Arg138Thr)
|
rs1387283537
|
0.00001
|
|
NM_001134363.3(RBM20):c.418C>A (p.Pro140Thr)
|
rs1416612925
|
0.00001
|
|
NM_001134363.3(RBM20):c.434G>A (p.Gly145Asp)
|
rs1060503413
|
0.00001
|
|
NM_001134363.3(RBM20):c.485C>T (p.Thr162Ile)
|
rs1214311876
|
0.00001
|
|
NM_001134363.3(RBM20):c.542G>A (p.Gly181Glu)
|
rs1371208217
|
0.00001
|
|
NM_001134363.3(RBM20):c.569C>T (p.Pro190Leu)
|
rs1321284191
|
0.00001
|
|
NM_001134363.3(RBM20):c.629C>T (p.Pro210Leu)
|
rs1564843906
|
0.00001
|
|
NM_001134363.3(RBM20):c.650G>T (p.Gly217Val)
|
rs1189201346
|
0.00001
|
|
NM_001134363.3(RBM20):c.658G>A (p.Gly220Arg)
|
rs1844340919
|
0.00001
|
|
NM_001134363.3(RBM20):c.674C>T (p.Thr225Ile)
|
rs794729140
|
0.00001
|
|
NM_001134363.3(RBM20):c.676G>A (p.Ala226Thr)
|
rs1033220280
|
0.00001
|
|
NM_001134363.3(RBM20):c.686A>G (p.Tyr229Cys)
|
rs1478721868
|
0.00001
|
|
NM_001134363.3(RBM20):c.691T>A (p.Tyr231Asn)
|
rs1564843957
|
0.00001
|
|
NM_001134363.3(RBM20):c.793G>A (p.Gly265Arg)
|
rs1237864932
|
0.00001
|
|
NM_001134363.3(RBM20):c.856A>G (p.Asn286Asp)
|
rs1324823773
|
0.00001
|
|
NM_001134363.3(RBM20):c.858C>A (p.Asn286Lys)
|
rs1339836806
|
0.00001
|
|
NM_001134363.3(RBM20):c.967C>A (p.His323Asn)
|
rs868524421
|
0.00001
|
|
NM_001159699.2(FHL1):c.110A>G (p.Gln37Arg)
|
rs1187549360
|
0.00001
|
|
NM_001159699.2(FHL1):c.118G>A (p.Gly40Ser)
|
rs772911535
|
0.00001
|
|
NM_001159699.2(FHL1):c.137A>G (p.Lys46Arg)
|
rs1226091388
|
0.00001
|
|
NM_001159699.2(FHL1):c.148A>G (p.Lys50Glu)
|
rs754421860
|
0.00001
|
|
NM_001159699.2(FHL1):c.194C>T (p.Ala65Val)
|
rs372301312
|
0.00001
|
|
NM_001159699.2(FHL1):c.204+6G>A
|
rs763404867
|
0.00001
|
|
NM_001159699.2(FHL1):c.239C>T (p.Thr80Ile)
|
rs746834335
|
0.00001
|
|
NM_001159699.2(FHL1):c.302A>G (p.Asn101Ser)
|
rs774919566
|
0.00001
|
|
NM_001159699.2(FHL1):c.303C>G (p.Asn101Lys)
|
rs762126486
|
0.00001
|
|
NM_001159699.2(FHL1):c.322T>A (p.Cys108Ser)
|
rs1375411779
|
0.00001
|
|
NM_001159699.2(FHL1):c.401A>C (p.Lys134Thr)
|
rs1457366238
|
0.00001
|
|
NM_001159699.2(FHL1):c.457G>A (p.Gly153Arg)
|
rs191071512
|
0.00001
|
|
NM_001159699.2(FHL1):c.480A>C (p.Lys160Asn)
|
rs1157004659
|
0.00001
|
|
NM_001159699.2(FHL1):c.499G>A (p.Val167Met)
|
rs1332573754
|
0.00001
|
|
NM_001159699.2(FHL1):c.549+5G>A
|
rs747714932
|
0.00001
|
|
NM_001159699.2(FHL1):c.551C>T (p.Ala184Val)
|
rs753677369
|
0.00001
|
|
NM_001159699.2(FHL1):c.579G>C (p.Gln193His)
|
rs2073910764
|
0.00001
|
|
NM_001159699.2(FHL1):c.607G>T (p.Val203Leu)
|
rs1300278653
|
0.00001
|
|
NM_001159699.2(FHL1):c.728C>A (p.Pro243His)
|
rs746311721
|
0.00001
|
|
NM_001159699.2(FHL1):c.737-2dup
|
rs752156219
|
0.00001
|
|
NM_001159699.2(FHL1):c.767A>C (p.Tyr256Ser)
|
rs1161827184
|
0.00001
|
|
NM_001159699.2(FHL1):c.836G>A (p.Arg279His)
|
rs377071251
|
0.00001
|
|
NM_001159699.2(FHL1):c.863A>T (p.Tyr288Phe)
|
rs760214177
|
0.00001
|
|
NM_001159702.3(FHL1):c.797G>A (p.Arg266Gln)
|
rs199818971
|
0.00001
|
|
NM_001161403.3(LIMS2):c.11+1282G>C
|
rs1419776330
|
0.00001
|
|
NM_001161403.3(LIMS2):c.11+1330G>A
|
rs113414022
|
0.00001
|
|
NM_001161403.3(LIMS2):c.114G>C (p.Glu38Asp)
|
rs374132948
|
0.00001
|
|
NM_001161403.3(LIMS2):c.14A>G (p.Asn5Ser)
|
rs772186673
|
0.00001
|
|
NM_001161403.3(LIMS2):c.167A>G (p.Tyr56Cys)
|
rs752811662
|
0.00001
|
|
NM_001161403.3(LIMS2):c.199G>A (p.Asp67Asn)
|
rs1017450419
|
0.00001
|
|
NM_001161403.3(LIMS2):c.237C>T (p.Cys79=)
|
rs531118175
|
0.00001
|
|
NM_001161403.3(LIMS2):c.238G>A (p.Gly80Ser)
|
rs753710553
|
0.00001
|
|
NM_001161403.3(LIMS2):c.431A>G (p.His144Arg)
|
rs780102756
|
0.00001
|
|
NM_001161403.3(LIMS2):c.50G>A (p.Arg17His)
|
rs775450533
|
0.00001
|
|
NM_001161403.3(LIMS2):c.517C>G (p.Leu173Val)
|
rs1200220600
|
0.00001
|
|
NM_001161403.3(LIMS2):c.526G>A (p.Glu176Lys)
|
rs759040020
|
0.00001
|
|
NM_001161403.3(LIMS2):c.61C>T (p.Arg21Cys)
|
rs745803442
|
0.00001
|
|
NM_001161403.3(LIMS2):c.661C>T (p.His221Tyr)
|
rs1490885244
|
0.00001
|
|
NM_001161403.3(LIMS2):c.955C>T (p.Arg319Trp)
|
rs765582704
|
0.00001
|
|
NM_001232.4(CASQ2):c.1052A>G (p.Asp351Gly)
|
rs200899037
|
0.00001
|
|
NM_001232.4(CASQ2):c.1081T>A (p.Trp361Arg)
|
rs375811174
|
0.00001
|
|
NM_001232.4(CASQ2):c.1136A>T (p.Asp379Val)
|
rs940257382
|
0.00001
|
|
NM_001232.4(CASQ2):c.1150A>G (p.Asn384Asp)
|
rs772619751
|
0.00001
|
|
NM_001232.4(CASQ2):c.128A>G (p.Lys43Arg)
|
rs1163471411
|
0.00001
|
|
NM_001232.4(CASQ2):c.133G>T (p.Val45Phe)
|
rs746405346
|
0.00001
|
|
NM_001232.4(CASQ2):c.172G>A (p.Glu58Lys)
|
rs376824588
|
0.00001
|
|
NM_001232.4(CASQ2):c.210C>G (p.Phe70Leu)
|
rs774492523
|
0.00001
|
|
NM_001232.4(CASQ2):c.227T>C (p.Val76Ala)
|
rs1649199632
|
0.00001
|
|
NM_001232.4(CASQ2):c.229C>T (p.Leu77Phe)
|
rs781778467
|
0.00001
|
|
NM_001232.4(CASQ2):c.257A>G (p.His86Arg)
|
rs372587044
|
0.00001
|
|
NM_001232.4(CASQ2):c.281T>C (p.Val94Ala)
|
rs755766840
|
0.00001
|
|
NM_001232.4(CASQ2):c.289A>G (p.Lys97Glu)
|
rs750159744
|
0.00001
|
|
NM_001232.4(CASQ2):c.361C>T (p.Arg121Cys)
|
rs570840019
|
0.00001
|
|
NM_001232.4(CASQ2):c.409T>C (p.Phe137Leu)
|
rs762328417
|
0.00001
|
|
NM_001232.4(CASQ2):c.449G>T (p.Ser150Ile)
|
rs772041539
|
0.00001
|
|
NM_001232.4(CASQ2):c.469G>C (p.Ala157Pro)
|
rs779063209
|
0.00001
|
|
NM_001232.4(CASQ2):c.482T>C (p.Ile161Thr)
|
rs151201435
|
0.00001
|
|
NM_001232.4(CASQ2):c.518G>T (p.Ser173Ile)
|
rs786205790
|
0.00001
|
|
NM_001232.4(CASQ2):c.615G>T (p.Lys205Asn)
|
rs758082383
|
0.00001
|
|
NM_001232.4(CASQ2):c.793T>G (p.Leu265Val)
|
rs772419873
|
0.00001
|
|
NM_001232.4(CASQ2):c.83A>G (p.Tyr28Cys)
|
rs1230753325
|
0.00001
|
|
NM_001232.4(CASQ2):c.862C>G (p.Leu288Val)
|
rs772096506
|
0.00001
|
|
NM_001232.4(CASQ2):c.877C>T (p.Arg293Trp)
|
rs201306936
|
0.00001
|
|
NM_001232.4(CASQ2):c.884A>G (p.Asn295Ser)
|
rs781565627
|
0.00001
|
|
NM_001232.4(CASQ2):c.971T>C (p.Ile324Thr)
|
rs369403991
|
0.00001
|
|
NM_001267550.2(TTN):c.100204A>G (p.Thr33402Ala)
|
rs777018654
|
0.00001
|
|
NM_001267550.2(TTN):c.100649G>A (p.Gly33550Asp)
|
rs370253076
|
0.00001
|
|
NM_001267550.2(TTN):c.100745C>G (p.Thr33582Ser)
|
rs1289282264
|
0.00001
|
|
NM_001267550.2(TTN):c.100759G>A (p.Val33587Met)
|
rs1401200720
|
0.00001
|
|
NM_001267550.2(TTN):c.100841G>A (p.Ser33614Asn)
|
rs879230745
|
0.00001
|
|
NM_001267550.2(TTN):c.100903C>T (p.Leu33635Phe)
|
rs879048474
|
0.00001
|
|
NM_001267550.2(TTN):c.100966C>T (p.Pro33656Ser)
|
rs559295181
|
0.00001
|
|
NM_001267550.2(TTN):c.10099C>T (p.Arg3367Trp)
|
rs762791706
|
0.00001
|
|
NM_001267550.2(TTN):c.101012C>A (p.Ala33671Asp)
|
rs1575296563
|
0.00001
|
|
NM_001267550.2(TTN):c.101144C>T (p.Ser33715Phe)
|
rs755892166
|
0.00001
|
|
NM_001267550.2(TTN):c.101165C>T (p.Thr33722Ile)
|
rs1372744849
|
0.00001
|
|
NM_001267550.2(TTN):c.101284G>A (p.Val33762Ile)
|
rs1385559568
|
0.00001
|
|
NM_001267550.2(TTN):c.101326C>G (p.Pro33776Ala)
|
rs746665837
|
0.00001
|
|
NM_001267550.2(TTN):c.101380G>A (p.Glu33794Lys)
|
rs1484936368
|
0.00001
|
|
NM_001267550.2(TTN):c.101386G>A (p.Val33796Ile)
|
rs1160027812
|
0.00001
|
|
NM_001267550.2(TTN):c.101387T>C (p.Val33796Ala)
|
rs1454018253
|
0.00001
|
|
NM_001267550.2(TTN):c.101429C>G (p.Ser33810Cys)
|
rs1467149853
|
0.00001
|
|
NM_001267550.2(TTN):c.101495T>C (p.Ile33832Thr)
|
rs1476820246
|
0.00001
|
|
NM_001267550.2(TTN):c.101503C>T (p.Arg33835Cys)
|
rs781516399
|
0.00001
|
|
NM_001267550.2(TTN):c.101519C>T (p.Ser33840Phe)
|
rs1202069310
|
0.00001
|
|
NM_001267550.2(TTN):c.101529G>C (p.Lys33843Asn)
|
rs377406091
|
0.00001
|
|
NM_001267550.2(TTN):c.101551A>C (p.Lys33851Gln)
|
rs1394900631
|
0.00001
|
|
NM_001267550.2(TTN):c.101557A>G (p.Lys33853Glu)
|
rs727505163
|
0.00001
|
|
NM_001267550.2(TTN):c.101572G>C (p.Val33858Leu)
|
rs1060500584
|
0.00001
|
|
NM_001267550.2(TTN):c.101573T>A (p.Val33858Asp)
|
rs1172459056
|
0.00001
|
|
NM_001267550.2(TTN):c.101606T>C (p.Ile33869Thr)
|
rs1253957228
|
0.00001
|
|
NM_001267550.2(TTN):c.101655G>T (p.Met33885Ile)
|
rs777177959
|
0.00001
|
|
NM_001267550.2(TTN):c.101679G>C (p.Glu33893Asp)
|
rs764487443
|
0.00001
|
|
NM_001267550.2(TTN):c.101805T>G (p.Ile33935Met)
|
rs76106451
|
0.00001
|
|
NM_001267550.2(TTN):c.101846C>T (p.Thr33949Ile)
|
rs1559040993
|
0.00001
|
|
NM_001267550.2(TTN):c.101866A>C (p.Lys33956Gln)
|
rs1690684721
|
0.00001
|
|
NM_001267550.2(TTN):c.101875G>A (p.Glu33959Lys)
|
rs886055224
|
0.00001
|
|
NM_001267550.2(TTN):c.101908G>A (p.Asp33970Asn)
|
rs749832500
|
0.00001
|
|
NM_001267550.2(TTN):c.102011T>A (p.Leu34004Gln)
|
rs727504897
|
0.00001
|
|
NM_001267550.2(TTN):c.102027G>T (p.Leu34009Phe)
|
rs760604476
|
0.00001
|
|
NM_001267550.2(TTN):c.102040C>A (p.Pro34014Thr)
|
rs775271604
|
0.00001
|
|
NM_001267550.2(TTN):c.102095A>G (p.Tyr34032Cys)
|
rs1160872040
|
0.00001
|
|
NM_001267550.2(TTN):c.102116T>C (p.Phe34039Ser)
|
rs1553496582
|
0.00001
|
|
NM_001267550.2(TTN):c.102139A>G (p.Met34047Val)
|
rs755244797
|
0.00001
|
|
NM_001267550.2(TTN):c.102182G>A (p.Arg34061His)
|
rs774174825
|
0.00001
|
|
NM_001267550.2(TTN):c.102232G>C (p.Glu34078Gln)
|
rs1454101167
|
0.00001
|
|
NM_001267550.2(TTN):c.102274C>T (p.Arg34092Cys)
|
rs765435004
|
0.00001
|
|
NM_001267550.2(TTN):c.102325G>A (p.Ala34109Thr)
|
rs786205293
|
0.00001
|
|
NM_001267550.2(TTN):c.102329G>A (p.Arg34110Gln)
|
rs565347600
|
0.00001
|
|
NM_001267550.2(TTN):c.102368T>G (p.Val34123Gly)
|
rs1060500587
|
0.00001
|
|
NM_001267550.2(TTN):c.102377C>T (p.Ala34126Val)
|
rs1280930563
|
0.00001
|
|
NM_001267550.2(TTN):c.102397A>C (p.Ile34133Leu)
|
rs1328046092
|
0.00001
|
|
NM_001267550.2(TTN):c.102445G>A (p.Glu34149Lys)
|
rs780580255
|
0.00001
|
|
NM_001267550.2(TTN):c.102446A>G (p.Glu34149Gly)
|
rs1165341799
|
0.00001
|
|
NM_001267550.2(TTN):c.102518G>A (p.Gly34173Asp)
|
rs752184554
|
0.00001
|
|
NM_001267550.2(TTN):c.102562G>A (p.Glu34188Lys)
|
rs577667352
|
0.00001
|
|
NM_001267550.2(TTN):c.102586G>A (p.Val34196Ile)
|
rs1185169765
|
0.00001
|
|
NM_001267550.2(TTN):c.102638A>G (p.Asn34213Ser)
|
rs375332499
|
0.00001
|
|
NM_001267550.2(TTN):c.102697T>C (p.Tyr34233His)
|
rs1460715226
|
0.00001
|
|
NM_001267550.2(TTN):c.102698A>G (p.Tyr34233Cys)
|
rs1461306828
|
0.00001
|
|
NM_001267550.2(TTN):c.102713G>A (p.Arg34238His)
|
rs767961553
|
0.00001
|
|
NM_001267550.2(TTN):c.102782C>A (p.Thr34261Asn)
|
rs985229219
|
0.00001
|
|
NM_001267550.2(TTN):c.102814G>C (p.Gly34272Arg)
|
rs794729562
|
0.00001
|
|
NM_001267550.2(TTN):c.102842T>C (p.Ile34281Thr)
|
rs779369864
|
0.00001
|
|
NM_001267550.2(TTN):c.10288A>C (p.Asn3430His)
|
rs376029089
|
0.00001
|
|
NM_001267550.2(TTN):c.102928G>A (p.Glu34310Lys)
|
rs768930172
|
0.00001
|
|
NM_001267550.2(TTN):c.102940G>C (p.Gly34314Arg)
|
rs772007737
|
0.00001
|
|
NM_001267550.2(TTN):c.102976G>A (p.Asp34326Asn)
|
rs1227502652
|
0.00001
|
|
NM_001267550.2(TTN):c.102985G>A (p.Ala34329Thr)
|
rs749925915
|
0.00001
|
|
NM_001267550.2(TTN):c.102992A>G (p.Tyr34331Cys)
|
rs765213170
|
0.00001
|
|
NM_001267550.2(TTN):c.103087C>T (p.Pro34363Ser)
|
rs771573240
|
0.00001
|
|
NM_001267550.2(TTN):c.103088C>T (p.Pro34363Leu)
|
rs1457631231
|
0.00001
|
|
NM_001267550.2(TTN):c.103121G>T (p.Cys34374Phe)
|
rs368493317
|
0.00001
|
|
NM_001267550.2(TTN):c.103163G>A (p.Gly34388Asp)
|
rs760436734
|
0.00001
|
|
NM_001267550.2(TTN):c.103177A>C (p.Thr34393Pro)
|
rs947426325
|
0.00001
|
|
NM_001267550.2(TTN):c.103216G>A (p.Gly34406Arg)
|
rs371753532
|
0.00001
|
|
NM_001267550.2(TTN):c.103244G>A (p.Gly34415Asp)
|
rs919270464
|
0.00001
|
|
NM_001267550.2(TTN):c.103267A>G (p.Ile34423Val)
|
rs777746298
|
0.00001
|
|
NM_001267550.2(TTN):c.103288G>T (p.Asp34430Tyr)
|
rs751794473
|
0.00001
|
|
NM_001267550.2(TTN):c.10328C>T (p.Thr3443Ile)
|
rs746052197
|
0.00001
|
|
NM_001267550.2(TTN):c.103334C>T (p.Thr34445Ile)
|
rs778587344
|
0.00001
|
|
NM_001267550.2(TTN):c.103432G>A (p.Asp34478Asn)
|
rs878913368
|
0.00001
|
|
NM_001267550.2(TTN):c.103459C>A (p.Leu34487Ile)
|
rs779924820
|
0.00001
|
|
NM_001267550.2(TTN):c.103540G>A (p.Val34514Ile)
|
rs769311670
|
0.00001
|
|
NM_001267550.2(TTN):c.103583A>G (p.Glu34528Gly)
|
rs745616639
|
0.00001
|
|
NM_001267550.2(TTN):c.103586A>G (p.Glu34529Gly)
|
rs1184132617
|
0.00001
|
|
NM_001267550.2(TTN):c.103633C>A (p.Pro34545Thr)
|
rs533640993
|
0.00001
|
|
NM_001267550.2(TTN):c.103637G>A (p.Arg34546His)
|
rs973169397
|
0.00001
|
|
NM_001267550.2(TTN):c.103661A>G (p.Glu34554Gly)
|
rs1202031815
|
0.00001
|
|
NM_001267550.2(TTN):c.103672C>T (p.Arg34558Cys)
|
rs745743825
|
0.00001
|
|
NM_001267550.2(TTN):c.103680G>C (p.Lys34560Asn)
|
rs778525620
|
0.00001
|
|
NM_001267550.2(TTN):c.103687G>A (p.Val34563Met)
|
rs369429739
|
0.00001
|
|
NM_001267550.2(TTN):c.103693A>G (p.Met34565Val)
|
rs1575256217
|
0.00001
|
|
NM_001267550.2(TTN):c.103730A>G (p.Gln34577Arg)
|
rs727505009
|
0.00001
|
|
NM_001267550.2(TTN):c.103744G>C (p.Gly34582Arg)
|
rs1458830929
|
0.00001
|
|
NM_001267550.2(TTN):c.103762G>T (p.Val34588Leu)
|
rs368889232
|
0.00001
|
|
NM_001267550.2(TTN):c.103780C>T (p.Arg34594Cys)
|
rs879240376
|
0.00001
|
|
NM_001267550.2(TTN):c.103787G>A (p.Arg34596His)
|
rs762235688
|
0.00001
|
|
NM_001267550.2(TTN):c.103835C>G (p.Thr34612Arg)
|
rs1433454372
|
0.00001
|
|
NM_001267550.2(TTN):c.104005G>A (p.Asp34669Asn)
|
rs1430662349
|
0.00001
|
|
NM_001267550.2(TTN):c.104015C>T (p.Ala34672Val)
|
rs79666048
|
0.00001
|
|
NM_001267550.2(TTN):c.104018T>C (p.Met34673Thr)
|
rs886042330
|
0.00001
|
|
NM_001267550.2(TTN):c.104044C>T (p.Arg34682Cys)
|
rs1290406597
|
0.00001
|
|
NM_001267550.2(TTN):c.104045G>A (p.Arg34682His)
|
rs190398670
|
0.00001
|
|
NM_001267550.2(TTN):c.104062G>C (p.Glu34688Gln)
|
rs775049806
|
0.00001
|
|
NM_001267550.2(TTN):c.104064G>C (p.Glu34688Asp)
|
rs1407460166
|
0.00001
|
|
NM_001267550.2(TTN):c.104089A>G (p.Ser34697Gly)
|
rs1177374613
|
0.00001
|
|
NM_001267550.2(TTN):c.104093G>A (p.Arg34698Gln)
|
rs757940030
|
0.00001
|
|
NM_001267550.2(TTN):c.104099C>T (p.Pro34700Leu)
|
rs757181586
|
0.00001
|
|
NM_001267550.2(TTN):c.104105A>G (p.His34702Arg)
|
rs1190780620
|
0.00001
|
|
NM_001267550.2(TTN):c.104132C>G (p.Ser34711Cys)
|
rs767826322
|
0.00001
|
|
NM_001267550.2(TTN):c.104158G>A (p.Glu34720Lys)
|
rs773467994
|
0.00001
|
|
NM_001267550.2(TTN):c.104165C>T (p.Thr34722Ile)
|
rs770151999
|
0.00001
|
|
NM_001267550.2(TTN):c.104192A>G (p.Tyr34731Cys)
|
rs397517789
|
0.00001
|
|
NM_001267550.2(TTN):c.104194C>G (p.His34732Asp)
|
rs753769495
|
0.00001
|
|
NM_001267550.2(TTN):c.104195A>G (p.His34732Arg)
|
rs1250361204
|
0.00001
|
|
NM_001267550.2(TTN):c.104267G>C (p.Arg34756Thr)
|
rs1344770836
|
0.00001
|
|
NM_001267550.2(TTN):c.104272C>T (p.Pro34758Ser)
|
rs1296833957
|
0.00001
|
|
NM_001267550.2(TTN):c.104282G>A (p.Arg34761Gln)
|
rs200773170
|
0.00001
|
|
NM_001267550.2(TTN):c.104308G>A (p.Asp34770Asn)
|
rs1689483910
|
0.00001
|
|
NM_001267550.2(TTN):c.104368C>T (p.Leu34790Phe)
|
rs551824963
|
0.00001
|
|
NM_001267550.2(TTN):c.104435T>C (p.Ile34812Thr)
|
rs1427010837
|
0.00001
|
|
NM_001267550.2(TTN):c.104444T>C (p.Ile34815Thr)
|
rs908034780
|
0.00001
|
|
NM_001267550.2(TTN):c.104458G>A (p.Glu34820Lys)
|
rs766062367
|
0.00001
|
|
NM_001267550.2(TTN):c.104470C>T (p.His34824Tyr)
|
rs1689413849
|
0.00001
|
|
NM_001267550.2(TTN):c.104474C>A (p.Ala34825Asp)
|
rs766157074
|
0.00001
|
|
NM_001267550.2(TTN):c.104505A>T (p.Arg34835Ser)
|
rs1464816261
|
0.00001
|
|
NM_001267550.2(TTN):c.104564C>A (p.Ser34855Tyr)
|
rs886055222
|
0.00001
|
|
NM_001267550.2(TTN):c.104573T>A (p.Ile34858Asn)
|
rs374668326
|
0.00001
|
|
NM_001267550.2(TTN):c.104582G>A (p.Arg34861His)
|
rs777774818
|
0.00001
|
|
NM_001267550.2(TTN):c.104627C>T (p.Ser34876Leu)
|
rs1170097065
|
0.00001
|
|
NM_001267550.2(TTN):c.104741T>A (p.Met34914Lys)
|
rs373257372
|
0.00001
|
|
NM_001267550.2(TTN):c.104745A>C (p.Lys34915Asn)
|
rs1390713685
|
0.00001
|
|
NM_001267550.2(TTN):c.104761C>G (p.Gln34921Glu)
|
rs369190893
|
0.00001
|
|
NM_001267550.2(TTN):c.104821G>A (p.Ala34941Thr)
|
rs1484852266
|
0.00001
|
|
NM_001267550.2(TTN):c.104849C>T (p.Ser34950Leu)
|
rs762789368
|
0.00001
|
|
NM_001267550.2(TTN):c.104867G>A (p.Gly34956Asp)
|
rs145748940
|
0.00001
|
|
NM_001267550.2(TTN):c.104878C>T (p.Arg34960Cys)
|
rs772702110
|
0.00001
|
|
NM_001267550.2(TTN):c.104905C>A (p.Pro34969Thr)
|
rs1256480602
|
0.00001
|
|
NM_001267550.2(TTN):c.104933A>G (p.Asn34978Ser)
|
rs780028847
|
0.00001
|
|
NM_001267550.2(TTN):c.104952A>C (p.Glu34984Asp)
|
rs1434654451
|
0.00001
|
|
NM_001267550.2(TTN):c.104981G>A (p.Ser34994Asn)
|
rs774081159
|
0.00001
|
|
NM_001267550.2(TTN):c.104989C>G (p.Leu34997Val)
|
rs771364302
|
0.00001
|
|
NM_001267550.2(TTN):c.105038G>A (p.Arg35013His)
|
rs779484675
|
0.00001
|
|
NM_001267550.2(TTN):c.105049A>G (p.Thr35017Ala)
|
rs368779151
|
0.00001
|
|
NM_001267550.2(TTN):c.105064G>A (p.Glu35022Lys)
|
rs727504977
|
0.00001
|
|
NM_001267550.2(TTN):c.105083C>T (p.Thr35028Met)
|
rs56001826
|
0.00001
|
|
NM_001267550.2(TTN):c.105086T>G (p.Leu35029Trp)
|
rs763437247
|
0.00001
|
|
NM_001267550.2(TTN):c.105134A>T (p.Asp35045Val)
|
rs1001393566
|
0.00001
|
|
NM_001267550.2(TTN):c.105149G>C (p.Arg35050Thr)
|
rs376175862
|
0.00001
|
|
NM_001267550.2(TTN):c.1051G>A (p.Val351Met)
|
rs772889673
|
0.00001
|
|
NM_001267550.2(TTN):c.105219G>A (p.Met35073Ile)
|
rs1689052563
|
0.00001
|
|
NM_001267550.2(TTN):c.105311T>C (p.Met35104Thr)
|
rs373073929
|
0.00001
|
|
NM_001267550.2(TTN):c.105370A>C (p.Lys35124Gln)
|
rs760487831
|
0.00001
|
|
NM_001267550.2(TTN):c.105391A>G (p.Ile35131Val)
|
rs779464128
|
0.00001
|
|
NM_001267550.2(TTN):c.105407G>A (p.Arg35136Gln)
|
rs554213990
|
0.00001
|
|
NM_001267550.2(TTN):c.105430G>A (p.Glu35144Lys)
|
rs568472002
|
0.00001
|
|
NM_001267550.2(TTN):c.105449G>A (p.Cys35150Tyr)
|
rs554953169
|
0.00001
|
|
NM_001267550.2(TTN):c.105457G>A (p.Asp35153Asn)
|
rs778907927
|
0.00001
|
|
NM_001267550.2(TTN):c.105485G>C (p.Trp35162Ser)
|
rs886042795
|
0.00001
|
|
NM_001267550.2(TTN):c.105491G>A (p.Arg35164His)
|
rs768358201
|
0.00001
|
|
NM_001267550.2(TTN):c.105493A>G (p.Lys35165Glu)
|
rs879156291
|
0.00001
|
|
NM_001267550.2(TTN):c.105571G>A (p.Val35191Ile)
|
rs1290162863
|
0.00001
|
|
NM_001267550.2(TTN):c.105578C>A (p.Ala35193Asp)
|
rs1380574216
|
0.00001
|
|
NM_001267550.2(TTN):c.105601G>A (p.Val35201Met)
|
rs397517797
|
0.00001
|
|
NM_001267550.2(TTN):c.105643A>C (p.Thr35215Pro)
|
rs769195414
|
0.00001
|
|
NM_001267550.2(TTN):c.105667G>A (p.Val35223Ile)
|
rs1688851195
|
0.00001
|
|
NM_001267550.2(TTN):c.105673G>A (p.Glu35225Lys)
|
rs1688847847
|
0.00001
|
|
NM_001267550.2(TTN):c.105718C>T (p.Arg35240Trp)
|
rs752729073
|
0.00001
|
|
NM_001267550.2(TTN):c.105802G>A (p.Glu35268Lys)
|
rs1010179080
|
0.00001
|
|
NM_001267550.2(TTN):c.105825G>C (p.Glu35275Asp)
|
rs377219772
|
0.00001
|
|
NM_001267550.2(TTN):c.105834G>C (p.Gln35278His)
|
rs758094020
|
0.00001
|
|
NM_001267550.2(TTN):c.105839T>A (p.Leu35280His)
|
rs1451951231
|
0.00001
|
|
NM_001267550.2(TTN):c.105863T>C (p.Ile35288Thr)
|
rs764713884
|
0.00001
|
|
NM_001267550.2(TTN):c.105873C>A (p.Phe35291Leu)
|
rs1183014419
|
0.00001
|
|
NM_001267550.2(TTN):c.105880G>A (p.Ala35294Thr)
|
rs879080442
|
0.00001
|
|
NM_001267550.2(TTN):c.10589A>T (p.Tyr3530Phe)
|
rs755931621
|
0.00001
|
|
NM_001267550.2(TTN):c.10592C>G (p.Ser3531Ter)
|
rs767420661
|
0.00001
|
|
NM_001267550.2(TTN):c.106055C>G (p.Ser35352Cys)
|
rs746512551
|
0.00001
|
|
NM_001267550.2(TTN):c.106117C>A (p.Gln35373Lys)
|
rs778126842
|
0.00001
|
|
NM_001267550.2(TTN):c.106154A>C (p.Lys35385Thr)
|
rs768296130
|
0.00001
|
|
NM_001267550.2(TTN):c.106180A>G (p.Lys35394Glu)
|
rs745753316
|
0.00001
|
|
NM_001267550.2(TTN):c.106210G>A (p.Val35404Ile)
|
rs752846394
|
0.00001
|
|
NM_001267550.2(TTN):c.106258C>T (p.Pro35420Ser)
|
rs567191587
|
0.00001
|
|
NM_001267550.2(TTN):c.106286C>T (p.Thr35429Ile)
|
rs1241466221
|
0.00001
|
|
NM_001267550.2(TTN):c.106312A>G (p.Lys35438Glu)
|
rs755067124
|
0.00001
|
|
NM_001267550.2(TTN):c.106343G>A (p.Arg35448Gln)
|
rs369703073
|
0.00001
|
|
NM_001267550.2(TTN):c.106374+3A>G
|
rs976515961
|
0.00001
|
|
NM_001267550.2(TTN):c.106376C>T (p.Ala35459Val)
|
rs879170800
|
0.00001
|
|
NM_001267550.2(TTN):c.106379T>C (p.Ile35460Thr)
|
rs1398739704
|
0.00001
|
|
NM_001267550.2(TTN):c.106387G>A (p.Gly35463Arg)
|
rs1474079403
|
0.00001
|
|
NM_001267550.2(TTN):c.106403T>A (p.Leu35468His)
|
rs952475900
|
0.00001
|
|
NM_001267550.2(TTN):c.106549G>A (p.Ala35517Thr)
|
rs772279090
|
0.00001
|
|
NM_001267550.2(TTN):c.106556A>G (p.Lys35519Arg)
|
rs1422047351
|
0.00001
|
|
NM_001267550.2(TTN):c.106680G>C (p.Lys35560Asn)
|
rs779206858
|
0.00001
|
|
NM_001267550.2(TTN):c.106769A>G (p.His35590Arg)
|
rs375572802
|
0.00001
|
|
NM_001267550.2(TTN):c.106771G>A (p.Glu35591Lys)
|
rs935554305
|
0.00001
|
|
NM_001267550.2(TTN):c.106831G>C (p.Ala35611Pro)
|
rs1304855425
|
0.00001
|
|
NM_001267550.2(TTN):c.106853T>C (p.Ile35618Thr)
|
rs1575194805
|
0.00001
|
|
NM_001267550.2(TTN):c.106906G>A (p.Val35636Met)
|
rs751243461
|
0.00001
|
|
NM_001267550.2(TTN):c.106914G>C (p.Trp35638Cys)
|
rs758497512
|
0.00001
|
|
NM_001267550.2(TTN):c.106994A>G (p.Lys35665Arg)
|
rs746841189
|
0.00001
|
|
NM_001267550.2(TTN):c.107081T>C (p.Leu35694Pro)
|
rs761325938
|
0.00001
|
|
NM_001267550.2(TTN):c.107167T>G (p.Cys35723Gly)
|
rs1687597849
|
0.00001
|
|
NM_001267550.2(TTN):c.107200G>A (p.Glu35734Lys)
|
rs374992991
|
0.00001
|
|
NM_001267550.2(TTN):c.107218C>G (p.Leu35740Val)
|
rs1176056991
|
0.00001
|
|
NM_001267550.2(TTN):c.107270A>G (p.Tyr35757Cys)
|
rs932225386
|
0.00001
|
|
NM_001267550.2(TTN):c.107302G>A (p.Asp35768Asn)
|
rs794729571
|
0.00001
|
|
NM_001267550.2(TTN):c.107320A>G (p.Ile35774Val)
|
rs774401824
|
0.00001
|
|
NM_001267550.2(TTN):c.107446T>C (p.Phe35816Leu)
|
rs1687028450
|
0.00001
|
|
NM_001267550.2(TTN):c.107528T>C (p.Met35843Thr)
|
rs760758096
|
0.00001
|
|
NM_001267550.2(TTN):c.107593G>A (p.Glu35865Lys)
|
rs372841288
|
0.00001
|
|
NM_001267550.2(TTN):c.107620A>C (p.Ile35874Leu)
|
rs1210579565
|
0.00001
|
|
NM_001267550.2(TTN):c.107627A>G (p.Asn35876Ser)
|
rs750430860
|
0.00001
|
|
NM_001267550.2(TTN):c.107630T>C (p.Met35877Thr)
|
rs375824821
|
0.00001
|
|
NM_001267550.2(TTN):c.107657A>G (p.Lys35886Arg)
|
rs727504465
|
0.00001
|
|
NM_001267550.2(TTN):c.107661G>A (p.Met35887Ile)
|
rs764323200
|
0.00001
|
|
NM_001267550.2(TTN):c.107665A>C (p.Lys35889Gln)
|
rs760849988
|
0.00001
|
|
NM_001267550.2(TTN):c.107692A>G (p.Lys35898Glu)
|
rs1028436080
|
0.00001
|
|
NM_001267550.2(TTN):c.107721C>A (p.Ser35907Arg)
|
rs977991321
|
0.00001
|
|
NM_001267550.2(TTN):c.107723T>C (p.Ile35908Thr)
|
rs769141222
|
0.00001
|
|
NM_001267550.2(TTN):c.107774C>T (p.Thr35925Ile)
|
rs755111765
|
0.00001
|
|
NM_001267550.2(TTN):c.107798G>A (p.Gly35933Asp)
|
rs1686762598
|
0.00001
|
|
NM_001267550.2(TTN):c.107858T>G (p.Leu35953Arg)
|
rs794729572
|
0.00001
|
|
NM_001267550.2(TTN):c.107864C>A (p.Thr35955Asn)
|
rs370267738
|
0.00001
|
|
NM_001267550.2(TTN):c.107900G>A (p.Gly35967Glu)
|
rs780316966
|
0.00001
|
|
NM_001267550.2(TTN):c.11461A>G (p.Ile3821Val)
|
rs867402675
|
0.00001
|
|
NM_001267550.2(TTN):c.1165A>G (p.Ser389Gly)
|
rs1255499093
|
0.00001
|
|
NM_001267550.2(TTN):c.11678T>C (p.Met3893Thr)
|
rs1553941782
|
0.00001
|
|
NM_001267550.2(TTN):c.11684G>A (p.Ser3895Asn)
|
rs769466475
|
0.00001
|
|
NM_001267550.2(TTN):c.11687A>G (p.Asn3896Ser)
|
rs1207560844
|
0.00001
|
|
NM_001267550.2(TTN):c.11706A>G (p.Ile3902Met)
|
rs368845723
|
0.00001
|
|
NM_001267550.2(TTN):c.12016_12019dup (p.Gly4007fs)
|
rs1553940935
|
0.00001
|
|
NM_001267550.2(TTN):c.12052G>A (p.Gly4018Ser)
|
rs759214389
|
0.00001
|
|
NM_001267550.2(TTN):c.12113C>A (p.Thr4038Asn)
|
rs758968807
|
0.00001
|
|
NM_001267550.2(TTN):c.12175G>T (p.Gly4059Cys)
|
rs377114166
|
0.00001
|
|
NM_001267550.2(TTN):c.12416A>G (p.His4139Arg)
|
rs72648920
|
0.00001
|
|
NM_001267550.2(TTN):c.12470C>T (p.Ser4157Phe)
|
rs771706692
|
0.00001
|
|
NM_001267550.2(TTN):c.12484T>C (p.Ser4162Pro)
|
rs548726318
|
0.00001
|
|
NM_001267550.2(TTN):c.12572T>C (p.Ile4191Thr)
|
rs371669309
|
0.00001
|
|
NM_001267550.2(TTN):c.12830G>A (p.Ser4277Asn)
|
rs878854286
|
0.00001
|
|
NM_001267550.2(TTN):c.1304T>C (p.Met435Thr)
|
rs770187975
|
0.00001
|
|
NM_001267550.2(TTN):c.13219G>A (p.Val4407Met)
|
rs539154603
|
0.00001
|
|
NM_001267550.2(TTN):c.13488G>T (p.Gln4496His)
|
rs1383626434
|
0.00001
|
|
NM_001267550.2(TTN):c.13510C>A (p.Gln4504Lys)
|
rs761901186
|
0.00001
|
|
NM_001267550.2(TTN):c.13555A>G (p.Ile4519Val)
|
rs759140842
|
0.00001
|
|
NM_001267550.2(TTN):c.13817C>G (p.Pro4606Arg)
|
rs762079270
|
0.00001
|
|
NM_001267550.2(TTN):c.13883C>T (p.Ser4628Phe)
|
rs794729602
|
0.00001
|
|
NM_001267550.2(TTN):c.13940A>G (p.Asp4647Gly)
|
rs781348816
|
0.00001
|
|
NM_001267550.2(TTN):c.14092+5G>A
|
rs757575983
|
0.00001
|
|
NM_001267550.2(TTN):c.14095G>T (p.Ala4699Ser)
|
rs1172448062
|
0.00001
|
|
NM_001267550.2(TTN):c.1429A>T (p.Thr477Ser)
|
rs727503705
|
0.00001
|
|
NM_001267550.2(TTN):c.14464C>T (p.Pro4822Ser)
|
rs762428750
|
0.00001
|
|
NM_001267550.2(TTN):c.1489G>T (p.Glu497Ter)
|
rs1185562018
|
0.00001
|
|
NM_001267550.2(TTN):c.14983C>T (p.Pro4995Ser)
|
rs776578141
|
0.00001
|
|
NM_001267550.2(TTN):c.15040A>T (p.Thr5014Ser)
|
rs143093473
|
0.00001
|
|
NM_001267550.2(TTN):c.15346C>T (p.Arg5116Ter)
|
rs1057518470
|
0.00001
|
|
NM_001267550.2(TTN):c.1537-2A>G
|
rs749182164
|
0.00001
|
|
NM_001267550.2(TTN):c.15796C>T (p.Arg5266Ter)
|
rs372277017
|
0.00001
|
|
NM_001267550.2(TTN):c.157G>A (p.Gly53Ser)
|
rs150902810
|
0.00001
|
|
NM_001267550.2(TTN):c.16058G>A (p.Arg5353Gln)
|
rs751653047
|
0.00001
|
|
NM_001267550.2(TTN):c.16090C>T (p.Arg5364Cys)
|
rs886044310
|
0.00001
|
|
NM_001267550.2(TTN):c.16096G>A (p.Val5366Met)
|
rs372176136
|
0.00001
|
|
NM_001267550.2(TTN):c.160G>A (p.Val54Met)
|
rs139517732
|
0.00001
|
|
NM_001267550.2(TTN):c.16288C>T (p.Arg5430Ter)
|
rs772235481
|
0.00001
|
|
NM_001267550.2(TTN):c.16709C>T (p.Thr5570Ile)
|
rs535319438
|
0.00001
|
|
NM_001267550.2(TTN):c.16750A>G (p.Ile5584Val)
|
rs368116422
|
0.00001
|
|
NM_001267550.2(TTN):c.16975G>A (p.Glu5659Lys)
|
rs763708860
|
0.00001
|
|
NM_001267550.2(TTN):c.17032C>T (p.Arg5678Ter)
|
rs1199616569
|
0.00001
|
|
NM_001267550.2(TTN):c.17047T>G (p.Tyr5683Asp)
|
rs371062603
|
0.00001
|
|
NM_001267550.2(TTN):c.17182+5G>T
|
rs2080545375
|
0.00001
|
|
NM_001267550.2(TTN):c.17189C>T (p.Pro5730Leu)
|
rs779187099
|
0.00001
|
|
NM_001267550.2(TTN):c.17216C>T (p.Thr5739Ile)
|
rs751087281
|
0.00001
|
|
NM_001267550.2(TTN):c.17227C>T (p.Arg5743Trp)
|
rs377193479
|
0.00001
|
|
NM_001267550.2(TTN):c.17279C>T (p.Thr5760Met)
|
rs770310501
|
0.00001
|
|
NM_001267550.2(TTN):c.17320G>A (p.Asp5774Asn)
|
rs752660722
|
0.00001
|
|
NM_001267550.2(TTN):c.17328A>G (p.Ile5776Met)
|
rs928844023
|
0.00001
|
|
NM_001267550.2(TTN):c.17331A>T (p.Arg5777Ser)
|
rs367942154
|
0.00001
|
|
NM_001267550.2(TTN):c.17375T>C (p.Ile5792Thr)
|
rs1225094303
|
0.00001
|
|
NM_001267550.2(TTN):c.17645T>C (p.Ile5882Thr)
|
rs763665430
|
0.00001
|
|
NM_001267550.2(TTN):c.17669G>C (p.Ser5890Thr)
|
rs775293848
|
0.00001
|
|
NM_001267550.2(TTN):c.17928G>A (p.Leu5976=)
|
rs373963067
|
0.00001
|
|
NM_001267550.2(TTN):c.1800+4A>G
|
rs998572909
|
0.00001
|
|
NM_001267550.2(TTN):c.18098C>T (p.Ala6033Val)
|
rs771457862
|
0.00001
|
|
NM_001267550.2(TTN):c.18445A>G (p.Ile6149Val)
|
rs368897297
|
0.00001
|
|
NM_001267550.2(TTN):c.18560C>T (p.Ala6187Val)
|
rs758380777
|
0.00001
|
|
NM_001267550.2(TTN):c.18589+4C>T
|
rs1449021840
|
0.00001
|
|
NM_001267550.2(TTN):c.18709A>T (p.Arg6237Trp)
|
rs750368911
|
0.00001
|
|
NM_001267550.2(TTN):c.18782G>A (p.Cys6261Tyr)
|
rs1060500581
|
0.00001
|
|
NM_001267550.2(TTN):c.19036G>A (p.Val6346Met)
|
rs537966944
|
0.00001
|
|
NM_001267550.2(TTN):c.1925T>C (p.Ile642Thr)
|
rs772036467
|
0.00001
|
|
NM_001267550.2(TTN):c.19426G>A (p.Asp6476Asn)
|
rs1399156064
|
0.00001
|
|
NM_001267550.2(TTN):c.19447T>C (p.Phe6483Leu)
|
rs373750655
|
0.00001
|
|
NM_001267550.2(TTN):c.19931A>G (p.Tyr6644Cys)
|
rs375417679
|
0.00001
|
|
NM_001267550.2(TTN):c.19949A>G (p.Asn6650Ser)
|
rs751222632
|
0.00001
|
|
NM_001267550.2(TTN):c.19970G>T (p.Cys6657Phe)
|
rs776748717
|
0.00001
|
|
NM_001267550.2(TTN):c.20041G>A (p.Ala6681Thr)
|
rs779405672
|
0.00001
|
|
NM_001267550.2(TTN):c.20096T>C (p.Val6699Ala)
|
rs907862282
|
0.00001
|
|
NM_001267550.2(TTN):c.20107C>T (p.Arg6703Ter)
|
rs2079499416
|
0.00001
|
|
NM_001267550.2(TTN):c.20396G>A (p.Arg6799Gln)
|
rs780069933
|
0.00001
|
|
NM_001267550.2(TTN):c.20579T>C (p.Leu6860Pro)
|
rs767944090
|
0.00001
|
|
NM_001267550.2(TTN):c.20605G>A (p.Glu6869Lys)
|
rs746830456
|
0.00001
|
|
NM_001267550.2(TTN):c.20692A>G (p.Ser6898Gly)
|
rs878854291
|
0.00001
|
|
NM_001267550.2(TTN):c.20696A>G (p.Glu6899Gly)
|
rs777803266
|
0.00001
|
|
NM_001267550.2(TTN):c.20869A>T (p.Met6957Leu)
|
rs375262781
|
0.00001
|
|
NM_001267550.2(TTN):c.20873C>T (p.Thr6958Met)
|
rs371824963
|
0.00001
|
|
NM_001267550.2(TTN):c.20891C>T (p.Thr6964Met)
|
rs765257439
|
0.00001
|
|
NM_001267550.2(TTN):c.21028G>A (p.Val7010Ile)
|
rs564660466
|
0.00001
|
|
NM_001267550.2(TTN):c.21118C>T (p.Arg7040Ter)
|
rs576359448
|
0.00001
|
|
NM_001267550.2(TTN):c.2113G>C (p.Val705Leu)
|
rs1320087550
|
0.00001
|
|
NM_001267550.2(TTN):c.21143G>A (p.Arg7048Gln)
|
rs148072021
|
0.00001
|
|
NM_001267550.2(TTN):c.21497T>G (p.Phe7166Cys)
|
rs781740874
|
0.00001
|
|
NM_001267550.2(TTN):c.21574G>A (p.Ala7192Thr)
|
rs1212601280
|
0.00001
|
|
NM_001267550.2(TTN):c.21667C>T (p.Arg7223Cys)
|
rs1156609638
|
0.00001
|
|
NM_001267550.2(TTN):c.21892G>A (p.Gly7298Arg)
|
rs878854292
|
0.00001
|
|
NM_001267550.2(TTN):c.2203T>C (p.Tyr735His)
|
rs754432983
|
0.00001
|
|
NM_001267550.2(TTN):c.2206G>A (p.Gly736Arg)
|
rs876658047
|
0.00001
|
|
NM_001267550.2(TTN):c.22241-7C>G
|
rs749798825
|
0.00001
|
|
NM_001267550.2(TTN):c.22255C>T (p.Pro7419Ser)
|
rs1486377872
|
0.00001
|
|
NM_001267550.2(TTN):c.2233A>G (p.Lys745Glu)
|
rs139957325
|
0.00001
|
|
NM_001267550.2(TTN):c.22529-7C>A
|
rs769076842
|
0.00001
|
|
NM_001267550.2(TTN):c.2254C>T (p.Arg752Cys)
|
rs200677631
|
0.00001
|
|
NM_001267550.2(TTN):c.22687A>T (p.Ile7563Phe)
|
rs1321824189
|
0.00001
|
|
NM_001267550.2(TTN):c.23005A>G (p.Asn7669Asp)
|
rs1060500486
|
0.00001
|
|
NM_001267550.2(TTN):c.23215C>T (p.Arg7739Ter)
|
rs372250586
|
0.00001
|
|
NM_001267550.2(TTN):c.23386C>T (p.Arg7796Ter)
|
rs748111134
|
0.00001
|
|
NM_001267550.2(TTN):c.2354T>C (p.Met785Thr)
|
rs1060500532
|
0.00001
|
|
NM_001267550.2(TTN):c.23567G>A (p.Gly7856Glu)
|
rs919783694
|
0.00001
|
|
NM_001267550.2(TTN):c.23578G>A (p.Ala7860Thr)
|
rs138076523
|
0.00001
|
|
NM_001267550.2(TTN):c.2370+3G>A
|
rs377577258
|
0.00001
|
|
NM_001267550.2(TTN):c.23725G>C (p.Glu7909Gln)
|
rs1161435142
|
0.00001
|
|
NM_001267550.2(TTN):c.23895C>A (p.Asn7965Lys)
|
rs1363515138
|
0.00001
|
|
NM_001267550.2(TTN):c.24013G>C (p.Glu8005Gln)
|
rs757042397
|
0.00001
|
|
NM_001267550.2(TTN):c.24038C>T (p.Pro8013Leu)
|
rs773761640
|
0.00001
|
|
NM_001267550.2(TTN):c.24469G>A (p.Gly8157Ser)
|
rs753025964
|
0.00001
|
|
NM_001267550.2(TTN):c.24493C>A (p.Leu8165Ile)
|
rs1060500582
|
0.00001
|
|
NM_001267550.2(TTN):c.24520G>A (p.Val8174Met)
|
rs727504961
|
0.00001
|
|
NM_001267550.2(TTN):c.24546T>A (p.Val8182=)
|
rs397517508
|
0.00001
|
|
NM_001267550.2(TTN):c.24563T>C (p.Ile8188Thr)
|
rs1184649078
|
0.00001
|
|
NM_001267550.2(TTN):c.24706G>A (p.Glu8236Lys)
|
rs377762626
|
0.00001
|
|
NM_001267550.2(TTN):c.24914G>A (p.Arg8305Gln)
|
rs759985618
|
0.00001
|
|
NM_001267550.2(TTN):c.25036G>A (p.Ala8346Thr)
|
rs755302381
|
0.00001
|
|
NM_001267550.2(TTN):c.25144C>T (p.Arg8382Cys)
|
rs776519143
|
0.00001
|
|
NM_001267550.2(TTN):c.25215T>A (p.Asn8405Lys)
|
rs371923232
|
0.00001
|
|
NM_001267550.2(TTN):c.25383del (p.Lys8461fs)
|
rs1452206214
|
0.00001
|
|
NM_001267550.2(TTN):c.25489C>T (p.Arg8497Cys)
|
rs369517119
|
0.00001
|
|
NM_001267550.2(TTN):c.25639+2T>G
|
rs769452066
|
0.00001
|
|
NM_001267550.2(TTN):c.25783A>T (p.Lys8595Ter)
|
rs887577241
|
0.00001
|
|
NM_001267550.2(TTN):c.26030A>G (p.Tyr8677Cys)
|
rs778578388
|
0.00001
|
|
NM_001267550.2(TTN):c.26116G>A (p.Asp8706Asn)
|
rs377074955
|
0.00001
|
|
NM_001267550.2(TTN):c.26200+5G>A
|
rs727503645
|
0.00001
|
|
NM_001267550.2(TTN):c.26275A>G (p.Ile8759Val)
|
rs1317485542
|
0.00001
|
|
NM_001267550.2(TTN):c.26444C>G (p.Ala8815Gly)
|
rs1168744166
|
0.00001
|
|
NM_001267550.2(TTN):c.26482+1G>C
|
rs1440418037
|
0.00001
|
|
NM_001267550.2(TTN):c.26830G>A (p.Val8944Ile)
|
rs72648993
|
0.00001
|
|
NM_001267550.2(TTN):c.26882A>G (p.His8961Arg)
|
rs766862084
|
0.00001
|
|
NM_001267550.2(TTN):c.26989A>G (p.Thr8997Ala)
|
rs953177976
|
0.00001
|
|
NM_001267550.2(TTN):c.27158T>C (p.Phe9053Ser)
|
rs761745332
|
0.00001
|
|
NM_001267550.2(TTN):c.27198C>G (p.Asn9066Lys)
|
rs369529493
|
0.00001
|
|
NM_001267550.2(TTN):c.27329-1G>T
|
rs1378646156
|
0.00001
|
|
NM_001267550.2(TTN):c.27425C>T (p.Ser9142Leu)
|
rs781609380
|
0.00001
|
|
NM_001267550.2(TTN):c.27427G>T (p.Val9143Phe)
|
rs186857044
|
0.00001
|
|
NM_001267550.2(TTN):c.2745C>G (p.Arg915=)
|
rs773568773
|
0.00001
|
|
NM_001267550.2(TTN):c.27607G>A (p.Glu9203Lys)
|
rs769097909
|
0.00001
|
|
NM_001267550.2(TTN):c.27667T>C (p.Ser9223Pro)
|
rs201253546
|
0.00001
|
|
NM_001267550.2(TTN):c.27746C>T (p.Thr9249Met)
|
rs745792278
|
0.00001
|
|
NM_001267550.2(TTN):c.27872T>C (p.Phe9291Ser)
|
rs754982924
|
0.00001
|
|
NM_001267550.2(TTN):c.27886+5T>C
|
rs876658050
|
0.00001
|
|
NM_001267550.2(TTN):c.27896T>G (p.Leu9299Arg)
|
rs879046044
|
0.00001
|
|
NM_001267550.2(TTN):c.28207C>G (p.Leu9403Val)
|
rs752742472
|
0.00001
|
|
NM_001267550.2(TTN):c.28308A>C (p.Glu9436Asp)
|
rs906433178
|
0.00001
|
|
NM_001267550.2(TTN):c.2836G>A (p.Val946Ile)
|
rs752246051
|
0.00001
|
|
NM_001267550.2(TTN):c.2841G>A (p.Ser947=)
|
rs774074192
|
0.00001
|
|
NM_001267550.2(TTN):c.28424T>G (p.Val9475Gly)
|
rs1363580617
|
0.00001
|
|
NM_001267550.2(TTN):c.28462+3A>G
|
rs1402065855
|
0.00001
|
|
NM_001267550.2(TTN):c.28495C>T (p.Leu9499Phe)
|
rs1060500573
|
0.00001
|
|
NM_001267550.2(TTN):c.28592A>C (p.Asn9531Thr)
|
rs537464608
|
0.00001
|
|
NM_001267550.2(TTN):c.28877C>A (p.Ala9626Asp)
|
rs397517530
|
0.00001
|
|
NM_001267550.2(TTN):c.28880G>A (p.Gly9627Asp)
|
rs878908638
|
0.00001
|
|
NM_001267550.2(TTN):c.29134+5G>A
|
rs2075957069
|
0.00001
|
|
NM_001267550.2(TTN):c.29227G>A (p.Gly9743Ser)
|
rs368073588
|
0.00001
|
|
NM_001267550.2(TTN):c.29333G>A (p.Gly9778Asp)
|
rs775854531
|
0.00001
|
|
NM_001267550.2(TTN):c.29381_29382del (p.Gln9794fs)
|
rs1290002563
|
0.00001
|
|
NM_001267550.2(TTN):c.295+5G>A
|
rs56310717
|
0.00001
|
|
NM_001267550.2(TTN):c.29502A>G (p.Glu9834=)
|
rs759468315
|
0.00001
|
|
NM_001267550.2(TTN):c.29564A>G (p.Glu9855Gly)
|
rs794727011
|
0.00001
|
|
NM_001267550.2(TTN):c.2967C>A (p.Phe989Leu)
|
rs376548316
|
0.00001
|
|
NM_001267550.2(TTN):c.29762T>C (p.Ile9921Thr)
|
rs373651676
|
0.00001
|
|
NM_001267550.2(TTN):c.29777A>C (p.Asn9926Thr)
|
rs377147236
|
0.00001
|
|
NM_001267550.2(TTN):c.29864G>A (p.Arg9955Gln)
|
rs182332374
|
0.00001
|
|
NM_001267550.2(TTN):c.30044C>T (p.Pro10015Leu)
|
rs1178694077
|
0.00001
|
|
NM_001267550.2(TTN):c.30196G>C (p.Glu10066Gln)
|
rs370072382
|
0.00001
|
|
NM_001267550.2(TTN):c.30223+5G>A
|
rs368199297
|
0.00001
|
|
NM_001267550.2(TTN):c.30511+1G>C
|
rs879082842
|
0.00001
|
|
NM_001267550.2(TTN):c.30605C>T (p.Pro10202Leu)
|
rs769528182
|
0.00001
|
|
NM_001267550.2(TTN):c.30614T>C (p.Val10205Ala)
|
rs1060500449
|
0.00001
|
|
NM_001267550.2(TTN):c.31295A>G (p.Lys10432Arg)
|
rs879134517
|
0.00001
|
|
NM_001267550.2(TTN):c.31426+1G>C
|
rs6749719
|
0.00001
|
|
NM_001267550.2(TTN):c.31453G>T (p.Val10485Phe)
|
rs762572524
|
0.00001
|
|
NM_001267550.2(TTN):c.31787T>C (p.Val10596Ala)
|
rs746313065
|
0.00001
|
|
NM_001267550.2(TTN):c.3205C>G (p.Leu1069Val)
|
rs759873829
|
0.00001
|
|
NM_001267550.2(TTN):c.32198-9C>A
|
rs555383226
|
0.00001
|
|
NM_001267550.2(TTN):c.32470G>T (p.Val10824Phe)
|
rs753951400
|
0.00001
|
|
NM_001267550.2(TTN):c.325C>T (p.Arg109Ter)
|
rs150954246
|
0.00001
|
|
NM_001267550.2(TTN):c.32630C>G (p.Pro10877Arg)
|
rs915579403
|
0.00001
|
|
NM_001267550.2(TTN):c.326G>A (p.Arg109Gln)
|
rs766434493
|
0.00001
|
|
NM_001267550.2(TTN):c.32781A>T (p.Lys10927Asn)
|
rs1250259159
|
0.00001
|
|
NM_001267550.2(TTN):c.32887+3A>G
|
rs796176592
|
0.00001
|
|
NM_001267550.2(TTN):c.32974T>C (p.Tyr10992His)
|
rs769393540
|
0.00001
|
|
NM_001267550.2(TTN):c.33172+3A>G
|
rs2069431645
|
0.00001
|
|
NM_001267550.2(TTN):c.33331G>A (p.Ala11111Thr)
|
rs545067681
|
0.00001
|
|
NM_001267550.2(TTN):c.33418+1G>A
|
rs746588865
|
0.00001
|
|
NM_001267550.2(TTN):c.33419-2A>C
|
rs756841034
|
0.00001
|
|
NM_001267550.2(TTN):c.33445C>T (p.Pro11149Ser)
|
rs377760800
|
0.00001
|
|
NM_001267550.2(TTN):c.33580G>A (p.Val11194Met)
|
rs778695102
|
0.00001
|
|
NM_001267550.2(TTN):c.33581-8C>G
|
rs888213772
|
0.00001
|
|
NM_001267550.2(TTN):c.33601C>A (p.Pro11201Thr)
|
rs769195017
|
0.00001
|
|
NM_001267550.2(TTN):c.33788T>C (p.Val11263Ala)
|
rs748148683
|
0.00001
|
|
NM_001267550.2(TTN):c.3386A>G (p.Lys1129Arg)
|
rs181375012
|
0.00001
|
|
NM_001267550.2(TTN):c.33911-7T>C
|
rs397517545
|
0.00001
|
|
NM_001267550.2(TTN):c.33961G>A (p.Val11321Ile)
|
rs878854298
|
0.00001
|
|
NM_001267550.2(TTN):c.34201G>A (p.Glu11401Lys)
|
rs765827814
|
0.00001
|
|
NM_001267550.2(TTN):c.34238C>G (p.Pro11413Arg)
|
rs769658955
|
0.00001
|
|
NM_001267550.2(TTN):c.34240G>A (p.Glu11414Lys)
|
rs748080418
|
0.00001
|
|
NM_001267550.2(TTN):c.34446del (p.Ala11483fs)
|
rs1488354536
|
0.00001
|
|
NM_001267550.2(TTN):c.34570C>T (p.Arg11524Ter)
|
rs1441434215
|
0.00001
|
|
NM_001267550.2(TTN):c.34583C>T (p.Pro11528Leu)
|
rs1553815977
|
0.00001
|
|
NM_001267550.2(TTN):c.34601T>C (p.Leu11534Pro)
|
rs376836503
|
0.00001
|
|
NM_001267550.2(TTN):c.34612+3A>G
|
rs371880098
|
0.00001
|
|
NM_001267550.2(TTN):c.34670C>T (p.Pro11557Leu)
|
rs887706962
|
0.00001
|
|
NM_001267550.2(TTN):c.34826T>C (p.Val11609Ala)
|
rs767524348
|
0.00001
|
|
NM_001267550.2(TTN):c.34969C>T (p.Arg11657Cys)
|
rs1187808745
|
0.00001
|
|
NM_001267550.2(TTN):c.35265A>G (p.Lys11755=)
|
rs774526152
|
0.00001
|
|
NM_001267550.2(TTN):c.35293G>C (p.Glu11765Gln)
|
rs1060500577
|
0.00001
|
|
NM_001267550.2(TTN):c.35294A>G (p.Glu11765Gly)
|
rs1319484684
|
0.00001
|
|
NM_001267550.2(TTN):c.35629+3A>G
|
rs751928755
|
0.00001
|
|
NM_001267550.2(TTN):c.35678C>G (p.Thr11893Ser)
|
rs750832804
|
0.00001
|
|
NM_001267550.2(TTN):c.36043+6T>C
|
rs765412168
|
0.00001
|
|
NM_001267550.2(TTN):c.3611A>C (p.Glu1204Ala)
|
rs779302369
|
0.00001
|
|
NM_001267550.2(TTN):c.3616G>T (p.Ala1206Ser)
|
rs200749662
|
0.00001
|
|
NM_001267550.2(TTN):c.36322T>A (p.Ser12108Thr)
|
rs989137248
|
0.00001
|
|
NM_001267550.2(TTN):c.36365-7T>C
|
rs746341489
|
0.00001
|
|
NM_001267550.2(TTN):c.36532G>A (p.Val12178Met)
|
rs1664222065
|
0.00001
|
|
NM_001267550.2(TTN):c.36568A>G (p.Lys12190Glu)
|
rs749339946
|
0.00001
|
|
NM_001267550.2(TTN):c.37208A>C (p.Glu12403Ala)
|
rs878854301
|
0.00001
|
|
NM_001267550.2(TTN):c.3729+4A>G
|
rs1170576212
|
0.00001
|
|
NM_001267550.2(TTN):c.38002A>G (p.Thr12668Ala)
|
rs1168512202
|
0.00001
|
|
NM_001267550.2(TTN):c.38042C>T (p.Pro12681Leu)
|
rs1553777756
|
0.00001
|
|
NM_001267550.2(TTN):c.38316A>C (p.Glu12772Asp)
|
rs1195550297
|
0.00001
|
|
NM_001267550.2(TTN):c.38353A>G (p.Lys12785Glu)
|
rs864622709
|
0.00001
|
|
NM_001267550.2(TTN):c.38465-5T>A
|
rs906108078
|
0.00001
|
|
NM_001267550.2(TTN):c.38792-2A>T
|
rs1185808525
|
0.00001
|
|
NM_001267550.2(TTN):c.39001C>A (p.Pro13001Thr)
|
rs878854302
|
0.00001
|
|
NM_001267550.2(TTN):c.39089C>T (p.Ala13030Val)
|
rs747459623
|
0.00001
|
|
NM_001267550.2(TTN):c.39295G>A (p.Val13099Met)
|
rs1394450889
|
0.00001
|
|
NM_001267550.2(TTN):c.39418G>A (p.Ala13140Thr)
|
rs781407045
|
0.00001
|
|
NM_001267550.2(TTN):c.39547+1G>A
|
rs1335572575
|
0.00001
|
|
NM_001267550.2(TTN):c.39709+3A>G
|
rs543584748
|
0.00001
|
|
NM_001267550.2(TTN):c.39851A>G (p.Lys13284Arg)
|
rs768562722
|
0.00001
|
|
NM_001267550.2(TTN):c.39883C>A (p.Pro13295Thr)
|
rs749860520
|
0.00001
|
|
NM_001267550.2(TTN):c.40126G>A (p.Val13376Ile)
|
rs1060500428
|
0.00001
|
|
NM_001267550.2(TTN):c.40222+6T>C
|
rs1182693405
|
0.00001
|
|
NM_001267550.2(TTN):c.40349C>T (p.Pro13450Leu)
|
rs372424006
|
0.00001
|
|
NM_001267550.2(TTN):c.40409-3A>C
|
rs1269069315
|
0.00001
|
|
NM_001267550.2(TTN):c.40558+4T>C
|
rs398124451
|
0.00001
|
|
NM_001267550.2(TTN):c.40558G>A (p.Val13520Ile)
|
rs587780488
|
0.00001
|
|
NM_001267550.2(TTN):c.40595T>G (p.Val13532Gly)
|
rs756446770
|
0.00001
|
|
NM_001267550.2(TTN):c.40634-1G>A
|
rs749062863
|
0.00001
|
|
NM_001267550.2(TTN):c.40690A>G (p.Lys13564Glu)
|
rs758942655
|
0.00001
|
|
NM_001267550.2(TTN):c.40723+3A>G
|
rs1468033868
|
0.00001
|
|
NM_001267550.2(TTN):c.40766C>T (p.Pro13589Leu)
|
rs200939270
|
0.00001
|
|
NM_001267550.2(TTN):c.4076A>G (p.Glu1359Gly)
|
rs370978752
|
0.00001
|
|
NM_001267550.2(TTN):c.40786+3G>A
|
rs551963261
|
0.00001
|
|
NM_001267550.2(TTN):c.40877-3C>A
|
rs746615904
|
0.00001
|
|
NM_001267550.2(TTN):c.40946C>T (p.Pro13649Leu)
|
rs771839127
|
0.00001
|
|
NM_001267550.2(TTN):c.40988G>A (p.Ser13663Asn)
|
rs1060500537
|
0.00001
|
|
NM_001267550.2(TTN):c.41104T>C (p.Ser13702Pro)
|
rs72650078
|
0.00001
|
|
NM_001267550.2(TTN):c.41146A>G (p.Ile13716Val)
|
rs531807386
|
0.00001
|
|
NM_001267550.2(TTN):c.41180G>A (p.Arg13727His)
|
rs750520224
|
0.00001
|
|
NM_001267550.2(TTN):c.41342G>A (p.Arg13781His)
|
rs370878642
|
0.00001
|
|
NM_001267550.2(TTN):c.41540C>T (p.Ala13847Val)
|
rs1439068447
|
0.00001
|
|
NM_001267550.2(TTN):c.41620G>A (p.Asp13874Asn)
|
rs770045249
|
0.00001
|
|
NM_001267550.2(TTN):c.4169C>T (p.Pro1390Leu)
|
rs144011561
|
0.00001
|
|
NM_001267550.2(TTN):c.41745G>A (p.Ala13915=)
|
rs780790022
|
0.00001
|
|
NM_001267550.2(TTN):c.41888G>A (p.Arg13963His)
|
rs540582993
|
0.00001
|
|
NM_001267550.2(TTN):c.41894T>G (p.Val13965Gly)
|
rs878854306
|
0.00001
|
|
NM_001267550.2(TTN):c.42401G>A (p.Arg14134Gln)
|
rs764083952
|
0.00001
|
|
NM_001267550.2(TTN):c.42764G>A (p.Ser14255Asn)
|
rs368433387
|
0.00001
|
|
NM_001267550.2(TTN):c.42769G>A (p.Asp14257Asn)
|
rs746571349
|
0.00001
|
|
NM_001267550.2(TTN):c.42829A>T (p.Ile14277Phe)
|
rs397517568
|
0.00001
|
|
NM_001267550.2(TTN):c.42840T>G (p.Asp14280Glu)
|
rs760643071
|
0.00001
|
|
NM_001267550.2(TTN):c.42946+3G>A
|
rs763647141
|
0.00001
|
|
NM_001267550.2(TTN):c.4309A>G (p.Met1437Val)
|
rs758098952
|
0.00001
|
|
NM_001267550.2(TTN):c.43100T>C (p.Ile14367Thr)
|
rs397517572
|
0.00001
|
|
NM_001267550.2(TTN):c.43146G>A (p.Leu14382=)
|
rs751236287
|
0.00001
|
|
NM_001267550.2(TTN):c.43249G>A (p.Val14417Ile)
|
rs906675886
|
0.00001
|
|
NM_001267550.2(TTN):c.43480+3A>T
|
rs1471215133
|
0.00001
|
|
NM_001267550.2(TTN):c.43565A>G (p.His14522Arg)
|
rs374085402
|
0.00001
|
|
NM_001267550.2(TTN):c.43600C>T (p.Gln14534Ter)
|
rs727504499
|
0.00001
|
|
NM_001267550.2(TTN):c.43669G>A (p.Asp14557Asn)
|
rs794729431
|
0.00001
|
|
NM_001267550.2(TTN):c.43717A>G (p.Met14573Val)
|
rs755610701
|
0.00001
|
|
NM_001267550.2(TTN):c.43955T>C (p.Ile14652Thr)
|
rs767038885
|
0.00001
|
|
NM_001267550.2(TTN):c.44014G>A (p.Asp14672Asn)
|
rs1339350914
|
0.00001
|
|
NM_001267550.2(TTN):c.44017C>G (p.Arg14673Gly)
|
rs773004022
|
0.00001
|
|
NM_001267550.2(TTN):c.44154+6G>T
|
rs794729234
|
0.00001
|
|
NM_001267550.2(TTN):c.44285G>A (p.Arg14762Gln)
|
rs727505019
|
0.00001
|
|
NM_001267550.2(TTN):c.44419G>A (p.Asp14807Asn)
|
rs753053245
|
0.00001
|
|
NM_001267550.2(TTN):c.44425G>A (p.Val14809Met)
|
rs775225695
|
0.00001
|
|
NM_001267550.2(TTN):c.4453A>G (p.Met1485Val)
|
rs753632784
|
0.00001
|
|
NM_001267550.2(TTN):c.4480G>A (p.Gly1494Ser)
|
rs774506028
|
0.00001
|
|
NM_001267550.2(TTN):c.44998A>G (p.Ile15000Val)
|
rs775264673
|
0.00001
|
|
NM_001267550.2(TTN):c.45322C>T (p.Arg15108Ter)
|
rs1060500405
|
0.00001
|
|
NM_001267550.2(TTN):c.45505G>A (p.Ala15169Thr)
|
rs759247684
|
0.00001
|
|
NM_001267550.2(TTN):c.45589A>G (p.Arg15197Gly)
|
rs748906368
|
0.00001
|
|
NM_001267550.2(TTN):c.4558G>A (p.Ala1520Thr)
|
rs1060500440
|
0.00001
|
|
NM_001267550.2(TTN):c.45616+1G>C
|
rs1395648308
|
0.00001
|
|
NM_001267550.2(TTN):c.45916G>A (p.Glu15306Lys)
|
rs774339883
|
0.00001
|
|
NM_001267550.2(TTN):c.46160T>C (p.Ile15387Thr)
|
rs397517585
|
0.00001
|
|
NM_001267550.2(TTN):c.46169C>T (p.Pro15390Leu)
|
rs879113967
|
0.00001
|
|
NM_001267550.2(TTN):c.46369G>A (p.Glu15457Lys)
|
rs753664074
|
0.00001
|
|
NM_001267550.2(TTN):c.46371G>C (p.Glu15457Asp)
|
rs764100235
|
0.00001
|
|
NM_001267550.2(TTN):c.4649T>C (p.Val1550Ala)
|
rs765557850
|
0.00001
|
|
NM_001267550.2(TTN):c.46521G>C (p.Lys15507Asn)
|
rs781291079
|
0.00001
|
|
NM_001267550.2(TTN):c.46702C>T (p.Pro15568Ser)
|
rs561728671
|
0.00001
|
|
NM_001267550.2(TTN):c.4700T>C (p.Ile1567Thr)
|
rs145957227
|
0.00001
|
|
NM_001267550.2(TTN):c.47258G>A (p.Arg15753Lys)
|
rs577133803
|
0.00001
|
|
NM_001267550.2(TTN):c.47296A>T (p.Thr15766Ser)
|
rs878854312
|
0.00001
|
|
NM_001267550.2(TTN):c.47380G>A (p.Val15794Ile)
|
rs727504878
|
0.00001
|
|
NM_001267550.2(TTN):c.47498T>A (p.Val15833Glu)
|
rs758495958
|
0.00001
|
|
NM_001267550.2(TTN):c.47530C>G (p.Pro15844Ala)
|
rs760956511
|
0.00001
|
|
NM_001267550.2(TTN):c.47740G>C (p.Val15914Leu)
|
rs764059405
|
0.00001
|
|
NM_001267550.2(TTN):c.47758A>C (p.Lys15920Gln)
|
rs775513269
|
0.00001
|
|
NM_001267550.2(TTN):c.4784T>G (p.Ile1595Ser)
|
rs1012905833
|
0.00001
|
|
NM_001267550.2(TTN):c.47875+6T>C
|
rs780524253
|
0.00001
|
|
NM_001267550.2(TTN):c.48119G>A (p.Arg16040His)
|
rs956699957
|
0.00001
|
|
NM_001267550.2(TTN):c.48152A>G (p.Asn16051Ser)
|
rs534426018
|
0.00001
|
|
NM_001267550.2(TTN):c.48331G>A (p.Asp16111Asn)
|
rs769898196
|
0.00001
|
|
NM_001267550.2(TTN):c.48337G>A (p.Glu16113Lys)
|
rs548275593
|
0.00001
|
|
NM_001267550.2(TTN):c.48409C>T (p.Pro16137Ser)
|
rs879009898
|
0.00001
|
|
NM_001267550.2(TTN):c.48461C>T (p.Thr16154Met)
|
rs771120250
|
0.00001
|
|
NM_001267550.2(TTN):c.48498T>G (p.Asp16166Glu)
|
rs1429263816
|
0.00001
|
|
NM_001267550.2(TTN):c.48560T>G (p.Ile16187Ser)
|
rs777279411
|
0.00001
|
|
NM_001267550.2(TTN):c.4874C>G (p.Ser1625Cys)
|
rs185789611
|
0.00001
|
|
NM_001267550.2(TTN):c.48842C>T (p.Thr16281Ile)
|
rs1553703631
|
0.00001
|
|
NM_001267550.2(TTN):c.48891G>A (p.Met16297Ile)
|
rs754110019
|
0.00001
|
|
NM_001267550.2(TTN):c.49016G>A (p.Arg16339Gln)
|
rs558487304
|
0.00001
|
|
NM_001267550.2(TTN):c.4903A>G (p.Lys1635Glu)
|
rs776274777
|
0.00001
|
|
NM_001267550.2(TTN):c.49258G>A (p.Glu16420Lys)
|
rs764682084
|
0.00001
|
|
NM_001267550.2(TTN):c.49707G>T (p.Arg16569Ser)
|
rs879180534
|
0.00001
|
|
NM_001267550.2(TTN):c.4981A>G (p.Ile1661Val)
|
rs749438439
|
0.00001
|
|
NM_001267550.2(TTN):c.49834C>T (p.Leu16612Phe)
|
rs750840061
|
0.00001
|
|
NM_001267550.2(TTN):c.49837C>G (p.Pro16613Ala)
|
rs1468557688
|
0.00001
|
|
NM_001267550.2(TTN):c.49978G>A (p.Val16660Ile)
|
rs757016105
|
0.00001
|
|
NM_001267550.2(TTN):c.5000A>G (p.Tyr1667Cys)
|
rs140494897
|
0.00001
|
|
NM_001267550.2(TTN):c.50148T>A (p.Thr16716=)
|
rs374138859
|
0.00001
|
|
NM_001267550.2(TTN):c.50348T>C (p.Ile16783Thr)
|
rs950940404
|
0.00001
|
|
NM_001267550.2(TTN):c.50400A>T (p.Lys16800Asn)
|
rs794729239
|
0.00001
|
|
NM_001267550.2(TTN):c.50549_50551+5dup
|
rs1060500453
|
0.00001
|
|
NM_001267550.2(TTN):c.50554C>T (p.Pro16852Ser)
|
rs752660748
|
0.00001
|
|
NM_001267550.2(TTN):c.5080C>T (p.Leu1694Phe)
|
rs769798880
|
0.00001
|
|
NM_001267550.2(TTN):c.50905G>C (p.Gly16969Arg)
|
rs878854314
|
0.00001
|
|
NM_001267550.2(TTN):c.51012G>T (p.Lys17004Asn)
|
rs755153359
|
0.00001
|
|
NM_001267550.2(TTN):c.51055C>T (p.Arg17019Cys)
|
rs773394284
|
0.00001
|
|
NM_001267550.2(TTN):c.51355T>G (p.Phe17119Val)
|
rs370696020
|
0.00001
|
|
NM_001267550.2(TTN):c.51377A>G (p.Lys17126Arg)
|
rs757728544
|
0.00001
|
|
NM_001267550.2(TTN):c.51449C>T (p.Pro17150Leu)
|
rs764792715
|
0.00001
|
|
NM_001267550.2(TTN):c.51593A>G (p.Asn17198Ser)
|
rs766535854
|
0.00001
|
|
NM_001267550.2(TTN):c.51649G>A (p.Glu17217Lys)
|
rs1060500503
|
0.00001
|
|
NM_001267550.2(TTN):c.51823C>T (p.Pro17275Ser)
|
rs752852690
|
0.00001
|
|
NM_001267550.2(TTN):c.52067G>A (p.Gly17356Asp)
|
rs759091835
|
0.00001
|
|
NM_001267550.2(TTN):c.52135G>C (p.Glu17379Gln)
|
rs770795675
|
0.00001
|
|
NM_001267550.2(TTN):c.52243G>A (p.Asp17415Asn)
|
rs397517609
|
0.00001
|
|
NM_001267550.2(TTN):c.52304T>A (p.Leu17435Gln)
|
rs1060500542
|
0.00001
|
|
NM_001267550.2(TTN):c.52313G>A (p.Gly17438Glu)
|
rs1356720044
|
0.00001
|
|
NM_001267550.2(TTN):c.52409C>A (p.Pro17470Gln)
|
rs372618781
|
0.00001
|
|
NM_001267550.2(TTN):c.52595A>G (p.Asp17532Gly)
|
rs1401966542
|
0.00001
|
|
NM_001267550.2(TTN):c.53246G>C (p.Ser17749Thr)
|
rs1553686153
|
0.00001
|
|
NM_001267550.2(TTN):c.53402T>C (p.Ile17801Thr)
|
rs370929667
|
0.00001
|
|
NM_001267550.2(TTN):c.53708G>A (p.Arg17903His)
|
rs755252821
|
0.00001
|
|
NM_001267550.2(TTN):c.53785G>A (p.Glu17929Lys)
|
rs201052994
|
0.00001
|
|
NM_001267550.2(TTN):c.53839G>A (p.Glu17947Lys)
|
rs1445321949
|
0.00001
|
|
NM_001267550.2(TTN):c.54532C>T (p.Arg18178Cys)
|
rs554701601
|
0.00001
|
|
NM_001267550.2(TTN):c.54697G>A (p.Val18233Ile)
|
rs374996996
|
0.00001
|
|
NM_001267550.2(TTN):c.54698T>A (p.Val18233Asp)
|
rs1060500469
|
0.00001
|
|
NM_001267550.2(TTN):c.54700C>A (p.Pro18234Thr)
|
rs1060500416
|
0.00001
|
|
NM_001267550.2(TTN):c.54883C>T (p.Pro18295Ser)
|
rs1162176452
|
0.00001
|
|
NM_001267550.2(TTN):c.55195C>T (p.Pro18399Ser)
|
rs774591174
|
0.00001
|
|
NM_001267550.2(TTN):c.55228T>C (p.Ser18410Pro)
|
rs778636992
|
0.00001
|
|
NM_001267550.2(TTN):c.55302G>A (p.Gln18434=)
|
rs567251026
|
0.00001
|
|
NM_001267550.2(TTN):c.55432+3A>G
|
rs1439287309
|
0.00001
|
|
NM_001267550.2(TTN):c.55432+5G>C
|
rs754717390
|
0.00001
|
|
NM_001267550.2(TTN):c.55516G>A (p.Asp18506Asn)
|
rs757839460
|
0.00001
|
|
NM_001267550.2(TTN):c.55910G>A (p.Arg18637His)
|
rs758627195
|
0.00001
|
|
NM_001267550.2(TTN):c.56050T>C (p.Cys18684Arg)
|
rs761599633
|
0.00001
|
|
NM_001267550.2(TTN):c.56213T>G (p.Val18738Gly)
|
rs777956655
|
0.00001
|
|
NM_001267550.2(TTN):c.5633G>A (p.Gly1878Glu)
|
rs745311218
|
0.00001
|
|
NM_001267550.2(TTN):c.56653C>T (p.Pro18885Ser)
|
rs747971851
|
0.00001
|
|
NM_001267550.2(TTN):c.56674A>C (p.Thr18892Pro)
|
rs780258242
|
0.00001
|
|
NM_001267550.2(TTN):c.5683C>T (p.His1895Tyr)
|
rs794729577
|
0.00001
|
|
NM_001267550.2(TTN):c.56963-3C>T
|
rs375979145
|
0.00001
|
|
NM_001267550.2(TTN):c.57070A>G (p.Ile19024Val)
|
rs876658068
|
0.00001
|
|
NM_001267550.2(TTN):c.5722G>A (p.Gly1908Ser)
|
rs964474432
|
0.00001
|
|
NM_001267550.2(TTN):c.57262G>T (p.Val19088Phe)
|
rs727505347
|
0.00001
|
|
NM_001267550.2(TTN):c.57367A>G (p.Thr19123Ala)
|
rs587782985
|
0.00001
|
|
NM_001267550.2(TTN):c.57387T>A (p.Asn19129Lys)
|
rs375305621
|
0.00001
|
|
NM_001267550.2(TTN):c.57544+4A>G
|
rs869312053
|
0.00001
|
|
NM_001267550.2(TTN):c.57635G>A (p.Gly19212Glu)
|
rs761511119
|
0.00001
|
|
NM_001267550.2(TTN):c.5785A>T (p.Ile1929Phe)
|
rs748917796
|
0.00001
|
|
NM_001267550.2(TTN):c.57860G>A (p.Arg19287His)
|
rs371422299
|
0.00001
|
|
NM_001267550.2(TTN):c.58295G>A (p.Arg19432His)
|
rs745631866
|
0.00001
|
|
NM_001267550.2(TTN):c.583+5G>A
|
rs397517663
|
0.00001
|
|
NM_001267550.2(TTN):c.58447C>G (p.Pro19483Ala)
|
rs367624056
|
0.00001
|
|
NM_001267550.2(TTN):c.58561G>A (p.Glu19521Lys)
|
rs746319976
|
0.00001
|
|
NM_001267550.2(TTN):c.58616G>T (p.Cys19539Phe)
|
rs539868284
|
0.00001
|
|
NM_001267550.2(TTN):c.58658G>A (p.Arg19553Gln)
|
rs543279513
|
0.00001
|
|
NM_001267550.2(TTN):c.5867A>G (p.Lys1956Arg)
|
rs1554006239
|
0.00001
|
|
NM_001267550.2(TTN):c.58720A>G (p.Lys19574Glu)
|
rs1032128606
|
0.00001
|
|
NM_001267550.2(TTN):c.59294A>T (p.Glu19765Val)
|
rs766141647
|
0.00001
|
|
NM_001267550.2(TTN):c.59359A>C (p.Ile19787Leu)
|
rs771610118
|
0.00001
|
|
NM_001267550.2(TTN):c.59711A>G (p.Asp19904Gly)
|
rs1016296280
|
0.00001
|
|
NM_001267550.2(TTN):c.59858C>T (p.Ala19953Val)
|
rs754149259
|
0.00001
|
|
NM_001267550.2(TTN):c.60104G>T (p.Cys20035Phe)
|
rs774488793
|
0.00001
|
|
NM_001267550.2(TTN):c.6039T>G (p.Ile2013Met)
|
rs727504208
|
0.00001
|
|
NM_001267550.2(TTN):c.6043G>A (p.Ala2015Thr)
|
rs776534823
|
0.00001
|
|
NM_001267550.2(TTN):c.60524C>T (p.Pro20175Leu)
|
rs771358314
|
0.00001
|
|
NM_001267550.2(TTN):c.60653C>T (p.Thr20218Met)
|
rs375155937
|
0.00001
|
|
NM_001267550.2(TTN):c.60707T>G (p.Leu20236Arg)
|
rs778953994
|
0.00001
|
|
NM_001267550.2(TTN):c.60934G>A (p.Glu20312Lys)
|
rs759127797
|
0.00001
|
|
NM_001267550.2(TTN):c.60944G>A (p.Gly20315Asp)
|
rs765839032
|
0.00001
|
|
NM_001267550.2(TTN):c.61073C>T (p.Pro20358Leu)
|
rs751194376
|
0.00001
|
|
NM_001267550.2(TTN):c.61075A>G (p.Ser20359Gly)
|
rs762408700
|
0.00001
|
|
NM_001267550.2(TTN):c.61366G>A (p.Gly20456Ser)
|
rs756873840
|
0.00001
|
|
NM_001267550.2(TTN):c.61645A>G (p.Ile20549Val)
|
rs750680415
|
0.00001
|
|
NM_001267550.2(TTN):c.61706G>A (p.Arg20569Lys)
|
rs371014957
|
0.00001
|
|
NM_001267550.2(TTN):c.61813A>G (p.Ile20605Val)
|
rs759096564
|
0.00001
|
|
NM_001267550.2(TTN):c.61814T>C (p.Ile20605Thr)
|
rs140252432
|
0.00001
|
|
NM_001267550.2(TTN):c.6192T>G (p.Phe2064Leu)
|
rs759437501
|
0.00001
|
|
NM_001267550.2(TTN):c.62057A>G (p.Tyr20686Cys)
|
rs755470129
|
0.00001
|
|
NM_001267550.2(TTN):c.62214T>G (p.Ile20738Met)
|
rs1388003753
|
0.00001
|
|
NM_001267550.2(TTN):c.62467C>T (p.Arg20823Cys)
|
rs779686013
|
0.00001
|
|
NM_001267550.2(TTN):c.62537C>T (p.Ala20846Val)
|
rs1060500518
|
0.00001
|
|
NM_001267550.2(TTN):c.62602G>A (p.Val20868Met)
|
rs371004819
|
0.00001
|
|
NM_001267550.2(TTN):c.62644A>G (p.Thr20882Ala)
|
rs538308579
|
0.00001
|
|
NM_001267550.2(TTN):c.62696A>G (p.Tyr20899Cys)
|
rs564111693
|
0.00001
|
|
NM_001267550.2(TTN):c.62699T>C (p.Ile20900Thr)
|
rs770522021
|
0.00001
|
|
NM_001267550.2(TTN):c.62732G>C (p.Trp20911Ser)
|
rs1243863753
|
0.00001
|
|
NM_001267550.2(TTN):c.62848A>G (p.Thr20950Ala)
|
rs748774963
|
0.00001
|
|
NM_001267550.2(TTN):c.62896C>T (p.Arg20966Cys)
|
rs767887086
|
0.00001
|
|
NM_001267550.2(TTN):c.62897G>A (p.Arg20966His)
|
rs1174185176
|
0.00001
|
|
NM_001267550.2(TTN):c.63187+3A>C
|
rs948908180
|
0.00001
|
|
NM_001267550.2(TTN):c.63227C>T (p.Thr21076Ile)
|
rs972090108
|
0.00001
|
|
NM_001267550.2(TTN):c.63332C>T (p.Ser21111Phe)
|
rs547033801
|
0.00001
|
|
NM_001267550.2(TTN):c.63380G>A (p.Arg21127His)
|
rs201226615
|
0.00001
|
|
NM_001267550.2(TTN):c.63559A>G (p.Arg21187Gly)
|
rs368288863
|
0.00001
|
|
NM_001267550.2(TTN):c.6358C>T (p.Arg2120Trp)
|
rs116158152
|
0.00001
|
|
NM_001267550.2(TTN):c.63941C>T (p.Ser21314Leu)
|
rs776468606
|
0.00001
|
|
NM_001267550.2(TTN):c.64001A>G (p.Asn21334Ser)
|
rs753121509
|
0.00001
|
|
NM_001267550.2(TTN):c.64088C>G (p.Pro21363Arg)
|
rs781561933
|
0.00001
|
|
NM_001267550.2(TTN):c.64615C>T (p.Leu21539Phe)
|
rs1060500431
|
0.00001
|
|
NM_001267550.2(TTN):c.64887G>C (p.Glu21629Asp)
|
rs779232091
|
0.00001
|
|
NM_001267550.2(TTN):c.64897C>T (p.Arg21633Trp)
|
rs749576292
|
0.00001
|
|
NM_001267550.2(TTN):c.64933C>T (p.Pro21645Ser)
|
rs1553632774
|
0.00001
|
|
NM_001267550.2(TTN):c.6508+1G>T
|
rs1373416532
|
0.00001
|
|
NM_001267550.2(TTN):c.65179G>A (p.Gly21727Ser)
|
rs756099303
|
0.00001
|
|
NM_001267550.2(TTN):c.65369T>C (p.Ile21790Thr)
|
rs727503580
|
0.00001
|
|
NM_001267550.2(TTN):c.65486A>G (p.Gln21829Arg)
|
rs886038921
|
0.00001
|
|
NM_001267550.2(TTN):c.65727C>T (p.Gly21909=)
|
rs1246746665
|
0.00001
|
|
NM_001267550.2(TTN):c.65794G>A (p.Gly21932Arg)
|
rs373636513
|
0.00001
|
|
NM_001267550.2(TTN):c.66067G>A (p.Gly22023Ser)
|
rs1060500452
|
0.00001
|
|
NM_001267550.2(TTN):c.66085C>T (p.Arg22029Cys)
|
rs769739080
|
0.00001
|
|
NM_001267550.2(TTN):c.6612A>T (p.Lys2204Asn)
|
rs1060500448
|
0.00001
|
|
NM_001267550.2(TTN):c.66200T>C (p.Ile22067Thr)
|
rs368042545
|
0.00001
|
|
NM_001267550.2(TTN):c.66283C>T (p.Arg22095Trp)
|
rs571093313
|
0.00001
|
|
NM_001267550.2(TTN):c.662T>C (p.Ile221Thr)
|
rs781543487
|
0.00001
|
|
NM_001267550.2(TTN):c.66452G>A (p.Arg22151Gln)
|
rs781750042
|
0.00001
|
|
NM_001267550.2(TTN):c.66545A>G (p.Tyr22182Cys)
|
rs879016147
|
0.00001
|
|
NM_001267550.2(TTN):c.66628C>A (p.Gln22210Lys)
|
rs757047748
|
0.00001
|
|
NM_001267550.2(TTN):c.66668T>C (p.Met22223Thr)
|
rs752794705
|
0.00001
|
|
NM_001267550.2(TTN):c.66691C>T (p.Arg22231Cys)
|
rs760026147
|
0.00001
|
|
NM_001267550.2(TTN):c.66723T>G (p.Ser22241Arg)
|
rs778956602
|
0.00001
|
|
NM_001267550.2(TTN):c.66736G>A (p.Val22246Met)
|
rs1393150545
|
0.00001
|
|
NM_001267550.2(TTN):c.66769+4A>G
|
rs368682419
|
0.00001
|
|
NM_001267550.2(TTN):c.66780G>C (p.Glu22260Asp)
|
rs574543857
|
0.00001
|
|
NM_001267550.2(TTN):c.66786A>T (p.Glu22262Asp)
|
rs1022562370
|
0.00001
|
|
NM_001267550.2(TTN):c.66820C>T (p.Arg22274Cys)
|
rs770627108
|
0.00001
|
|
NM_001267550.2(TTN):c.67001T>C (p.Leu22334Ser)
|
rs758106978
|
0.00001
|
|
NM_001267550.2(TTN):c.67048A>C (p.Lys22350Gln)
|
rs1370592733
|
0.00001
|
|
NM_001267550.2(TTN):c.67118T>A (p.Val22373Asp)
|
rs774568339
|
0.00001
|
|
NM_001267550.2(TTN):c.67153C>T (p.Pro22385Ser)
|
rs781562260
|
0.00001
|
|
NM_001267550.2(TTN):c.67208C>T (p.Thr22403Ile)
|
rs767363142
|
0.00001
|
|
NM_001267550.2(TTN):c.67300T>A (p.Tyr22434Asn)
|
rs1553623044
|
0.00001
|
|
NM_001267550.2(TTN):c.67348+5G>A
|
rs765587170
|
0.00001
|
|
NM_001267550.2(TTN):c.67989A>T (p.Leu22663Phe)
|
rs1485610846
|
0.00001
|
|
NM_001267550.2(TTN):c.68078C>T (p.Thr22693Met)
|
rs758700425
|
0.00001
|
|
NM_001267550.2(TTN):c.68195C>T (p.Ser22732Leu)
|
rs727505352
|
0.00001
|
|
NM_001267550.2(TTN):c.68224+3A>G
|
rs1006017098
|
0.00001
|
|
NM_001267550.2(TTN):c.68248C>T (p.Pro22750Ser)
|
rs764562311
|
0.00001
|
|
NM_001267550.2(TTN):c.68252A>G (p.Asn22751Ser)
|
rs761226149
|
0.00001
|
|
NM_001267550.2(TTN):c.6835C>G (p.Pro2279Ala)
|
rs143679901
|
0.00001
|
|
NM_001267550.2(TTN):c.6845A>C (p.Tyr2282Ser)
|
rs754307416
|
0.00001
|
|
NM_001267550.2(TTN):c.68678A>G (p.His22893Arg)
|
rs1039583705
|
0.00001
|
|
NM_001267550.2(TTN):c.68728G>A (p.Gly22910Arg)
|
rs794729245
|
0.00001
|
|
NM_001267550.2(TTN):c.68824+5G>C
|
rs749639627
|
0.00001
|
|
NM_001267550.2(TTN):c.68984A>C (p.Gln22995Pro)
|
rs879410317
|
0.00001
|
|
NM_001267550.2(TTN):c.69175C>T (p.Leu23059Phe)
|
rs1394979272
|
0.00001
|
|
NM_001267550.2(TTN):c.69379C>G (p.Gln23127Glu)
|
rs953796748
|
0.00001
|
|
NM_001267550.2(TTN):c.69515C>T (p.Thr23172Ile)
|
rs752643010
|
0.00001
|
|
NM_001267550.2(TTN):c.6979G>T (p.Asp2327Tyr)
|
rs1554002409
|
0.00001
|
|
NM_001267550.2(TTN):c.69815T>G (p.Ile23272Ser)
|
rs758398301
|
0.00001
|
|
NM_001267550.2(TTN):c.69883G>A (p.Ala23295Thr)
|
rs746519147
|
0.00001
|
|
NM_001267550.2(TTN):c.69957C>G (p.Ile23319Met)
|
rs540840413
|
0.00001
|
|
NM_001267550.2(TTN):c.70045G>A (p.Glu23349Lys)
|
rs397517682
|
0.00001
|
|
NM_001267550.2(TTN):c.70181C>T (p.Thr23394Met)
|
rs397517683
|
0.00001
|
|
NM_001267550.2(TTN):c.70240G>T (p.Val23414Phe)
|
rs759158138
|
0.00001
|
|
NM_001267550.2(TTN):c.70243A>C (p.Met23415Leu)
|
rs200029470
|
0.00001
|
|
NM_001267550.2(TTN):c.70282G>T (p.Val23428Leu)
|
rs794729486
|
0.00001
|
|
NM_001267550.2(TTN):c.70564G>A (p.Glu23522Lys)
|
rs561586925
|
0.00001
|
|
NM_001267550.2(TTN):c.70595C>T (p.Ala23532Val)
|
rs1389381134
|
0.00001
|
|
NM_001267550.2(TTN):c.70753G>A (p.Val23585Met)
|
rs754040141
|
0.00001
|
|
NM_001267550.2(TTN):c.70982C>T (p.Pro23661Leu)
|
rs1060500459
|
0.00001
|
|
NM_001267550.2(TTN):c.71132T>C (p.Ile23711Thr)
|
rs752317656
|
0.00001
|
|
NM_001267550.2(TTN):c.71347C>T (p.Arg23783Cys)
|
rs754516257
|
0.00001
|
|
NM_001267550.2(TTN):c.71368C>T (p.Arg23790Cys)
|
rs775743818
|
0.00001
|
|
NM_001267550.2(TTN):c.71729G>A (p.Ser23910Asn)
|
rs1060500509
|
0.00001
|
|
NM_001267550.2(TTN):c.71908C>T (p.Arg23970Trp)
|
rs748041610
|
0.00001
|
|
NM_001267550.2(TTN):c.72363C>G (p.Asp24121Glu)
|
rs919790172
|
0.00001
|
|
NM_001267550.2(TTN):c.7246G>A (p.Asp2416Asn)
|
rs1383990376
|
0.00001
|
|
NM_001267550.2(TTN):c.72487C>T (p.Arg24163Cys)
|
rs778284888
|
0.00001
|
|
NM_001267550.2(TTN):c.72713C>T (p.Ser24238Leu)
|
rs786205303
|
0.00001
|
|
NM_001267550.2(TTN):c.72785G>A (p.Arg24262His)
|
rs372390659
|
0.00001
|
|
NM_001267550.2(TTN):c.72863C>G (p.Thr24288Arg)
|
rs878997916
|
0.00001
|
|
NM_001267550.2(TTN):c.73021T>G (p.Ser24341Ala)
|
rs1397935154
|
0.00001
|
|
NM_001267550.2(TTN):c.73258G>A (p.Glu24420Lys)
|
rs1265445775
|
0.00001
|
|
NM_001267550.2(TTN):c.73888A>G (p.Arg24630Gly)
|
rs573355547
|
0.00001
|
|
NM_001267550.2(TTN):c.73930G>A (p.Gly24644Arg)
|
rs1553606142
|
0.00001
|
|
NM_001267550.2(TTN):c.74144C>T (p.Pro24715Leu)
|
rs55713856
|
0.00001
|
|
NM_001267550.2(TTN):c.74189G>A (p.Gly24730Asp)
|
rs781046518
|
0.00001
|
|
NM_001267550.2(TTN):c.74224C>T (p.Arg24742Cys)
|
rs369489704
|
0.00001
|
|
NM_001267550.2(TTN):c.74339G>A (p.Arg24780Gln)
|
rs776673912
|
0.00001
|
|
NM_001267550.2(TTN):c.74482C>G (p.Leu24828Val)
|
rs375181431
|
0.00001
|
|
NM_001267550.2(TTN):c.74527A>G (p.Asn24843Asp)
|
rs373527654
|
0.00001
|
|
NM_001267550.2(TTN):c.7468C>T (p.Arg2490Cys)
|
rs200131545
|
0.00001
|
|
NM_001267550.2(TTN):c.75016C>T (p.Pro25006Ser)
|
rs1264279589
|
0.00001
|
|
NM_001267550.2(TTN):c.7502G>A (p.Arg2501Gln)
|
rs369559000
|
0.00001
|
|
NM_001267550.2(TTN):c.75155G>A (p.Arg25052His)
|
rs542720402
|
0.00001
|
|
NM_001267550.2(TTN):c.7516C>G (p.Arg2506Gly)
|
rs780415493
|
0.00001
|
|
NM_001267550.2(TTN):c.75238C>T (p.Arg25080Trp)
|
rs1370877041
|
0.00001
|
|
NM_001267550.2(TTN):c.7534G>A (p.Glu2512Lys)
|
rs116049561
|
0.00001
|
|
NM_001267550.2(TTN):c.75816C>T (p.Gly25272=)
|
rs770708534
|
0.00001
|
|
NM_001267550.2(TTN):c.75934G>A (p.Glu25312Lys)
|
rs770655678
|
0.00001
|
|
NM_001267550.2(TTN):c.75982C>A (p.Pro25328Thr)
|
rs201776072
|
0.00001
|
|
NM_001267550.2(TTN):c.7600A>G (p.Lys2534Glu)
|
rs767167863
|
0.00001
|
|
NM_001267550.2(TTN):c.76030C>T (p.Arg25344Trp)
|
rs371696090
|
0.00001
|
|
NM_001267550.2(TTN):c.76064A>G (p.His25355Arg)
|
rs1399292028
|
0.00001
|
|
NM_001267550.2(TTN):c.76087C>T (p.Arg25363Cys)
|
rs757511354
|
0.00001
|
|
NM_001267550.2(TTN):c.76124A>T (p.Tyr25375Phe)
|
rs374494927
|
0.00001
|
|
NM_001267550.2(TTN):c.76168C>T (p.Pro25390Ser)
|
rs878948198
|
0.00001
|
|
NM_001267550.2(TTN):c.76238A>G (p.Lys25413Arg)
|
rs367696053
|
0.00001
|
|
NM_001267550.2(TTN):c.76541T>C (p.Leu25514Pro)
|
rs1553601755
|
0.00001
|
|
NM_001267550.2(TTN):c.76556T>C (p.Ile25519Thr)
|
rs376185524
|
0.00001
|
|
NM_001267550.2(TTN):c.76577G>A (p.Gly25526Asp)
|
rs369344156
|
0.00001
|
|
NM_001267550.2(TTN):c.76672G>T (p.Asp25558Tyr)
|
rs750336110
|
0.00001
|
|
NM_001267550.2(TTN):c.76889G>T (p.Gly25630Val)
|
rs760386525
|
0.00001
|
|
NM_001267550.2(TTN):c.76952T>C (p.Val25651Ala)
|
rs370768049
|
0.00001
|
|
NM_001267550.2(TTN):c.76962C>G (p.Asn25654Lys)
|
rs755800765
|
0.00001
|
|
NM_001267550.2(TTN):c.77049T>G (p.Ile25683Met)
|
rs755225678
|
0.00001
|
|
NM_001267550.2(TTN):c.77188A>G (p.Ile25730Val)
|
rs745981754
|
0.00001
|
|
NM_001267550.2(TTN):c.77510C>T (p.Pro25837Leu)
|
rs752618930
|
0.00001
|
|
NM_001267550.2(TTN):c.77623G>A (p.Val25875Ile)
|
rs763284241
|
0.00001
|
|
NM_001267550.2(TTN):c.77781T>G (p.Ile25927Met)
|
rs1226545466
|
0.00001
|
|
NM_001267550.2(TTN):c.77821G>A (p.Val25941Ile)
|
rs928158833
|
0.00001
|
|
NM_001267550.2(TTN):c.7818G>A (p.Ala2606=)
|
rs935809232
|
0.00001
|
|
NM_001267550.2(TTN):c.78231C>A (p.Ser26077Arg)
|
rs1553596375
|
0.00001
|
|
NM_001267550.2(TTN):c.78577A>C (p.Ile26193Leu)
|
rs727505241
|
0.00001
|
|
NM_001267550.2(TTN):c.79068A>G (p.Glu26356=)
|
rs375454098
|
0.00001
|
|
NM_001267550.2(TTN):c.79145A>C (p.Asn26382Thr)
|
rs727505049
|
0.00001
|
|
NM_001267550.2(TTN):c.79264A>G (p.Ile26422Val)
|
rs1553590996
|
0.00001
|
|
NM_001267550.2(TTN):c.79342G>A (p.Val26448Met)
|
rs1380054566
|
0.00001
|
|
NM_001267550.2(TTN):c.7952_7953dup (p.Trp2652fs)
|
rs1340562376
|
0.00001
|
|
NM_001267550.2(TTN):c.79636A>G (p.Thr26546Ala)
|
rs775053902
|
0.00001
|
|
NM_001267550.2(TTN):c.79640G>A (p.Arg26547Gln)
|
rs771534555
|
0.00001
|
|
NM_001267550.2(TTN):c.79768C>T (p.Pro26590Ser)
|
rs767838835
|
0.00001
|
|
NM_001267550.2(TTN):c.80170G>A (p.Glu26724Lys)
|
rs367812761
|
0.00001
|
|
NM_001267550.2(TTN):c.80228A>C (p.Lys26743Thr)
|
rs368263400
|
0.00001
|
|
NM_001267550.2(TTN):c.80399T>C (p.Met26800Thr)
|
rs761384994
|
0.00001
|
|
NM_001267550.2(TTN):c.80542G>C (p.Glu26848Gln)
|
rs898433512
|
0.00001
|
|
NM_001267550.2(TTN):c.80704C>T (p.Pro26902Ser)
|
rs1024262797
|
0.00001
|
|
NM_001267550.2(TTN):c.80726C>T (p.Pro26909Leu)
|
rs1553581878
|
0.00001
|
|
NM_001267550.2(TTN):c.80782G>A (p.Val26928Ile)
|
rs780885076
|
0.00001
|
|
NM_001267550.2(TTN):c.8095T>G (p.Ser2699Ala)
|
rs373857878
|
0.00001
|
|
NM_001267550.2(TTN):c.81094A>G (p.Ile27032Val)
|
rs369908251
|
0.00001
|
|
NM_001267550.2(TTN):c.81347G>A (p.Ser27116Asn)
|
rs1234317183
|
0.00001
|
|
NM_001267550.2(TTN):c.81511T>C (p.Cys27171Arg)
|
rs727504678
|
0.00001
|
|
NM_001267550.2(TTN):c.81653T>C (p.Met27218Thr)
|
rs1332904652
|
0.00001
|
|
NM_001267550.2(TTN):c.82019T>A (p.Ile27340Lys)
|
rs371592971
|
0.00001
|
|
NM_001267550.2(TTN):c.82060G>A (p.Val27354Ile)
|
rs878854336
|
0.00001
|
|
NM_001267550.2(TTN):c.82064G>A (p.Gly27355Asp)
|
rs1474733241
|
0.00001
|
|
NM_001267550.2(TTN):c.82070C>G (p.Thr27357Arg)
|
rs754175266
|
0.00001
|
|
NM_001267550.2(TTN):c.82106G>A (p.Arg27369Lys)
|
rs774715672
|
0.00001
|
|
NM_001267550.2(TTN):c.82448A>G (p.Lys27483Arg)
|
rs937111656
|
0.00001
|
|
NM_001267550.2(TTN):c.82457T>C (p.Met27486Thr)
|
rs746435098
|
0.00001
|
|
NM_001267550.2(TTN):c.82539C>T (p.Gly27513=)
|
rs775673876
|
0.00001
|
|
NM_001267550.2(TTN):c.82561A>G (p.Lys27521Glu)
|
rs1060500417
|
0.00001
|
|
NM_001267550.2(TTN):c.82616C>G (p.Ser27539Cys)
|
rs727503556
|
0.00001
|
|
NM_001267550.2(TTN):c.82934G>A (p.Arg27645His)
|
rs766522109
|
0.00001
|
|
NM_001267550.2(TTN):c.83017C>A (p.Pro27673Thr)
|
rs769343491
|
0.00001
|
|
NM_001267550.2(TTN):c.83105G>A (p.Arg27702Gln)
|
rs776136653
|
0.00001
|
|
NM_001267550.2(TTN):c.83218G>A (p.Asp27740Asn)
|
rs776130801
|
0.00001
|
|
NM_001267550.2(TTN):c.83227C>T (p.Arg27743Trp)
|
rs1185542536
|
0.00001
|
|
NM_001267550.2(TTN):c.83228G>A (p.Arg27743Gln)
|
rs768262273
|
0.00001
|
|
NM_001267550.2(TTN):c.83252A>G (p.Asn27751Ser)
|
rs775527437
|
0.00001
|
|
NM_001267550.2(TTN):c.83404A>G (p.Ile27802Val)
|
rs727504723
|
0.00001
|
|
NM_001267550.2(TTN):c.83543T>C (p.Ile27848Thr)
|
rs397517723
|
0.00001
|
|
NM_001267550.2(TTN):c.83629C>T (p.Arg27877Cys)
|
rs527624888
|
0.00001
|
|
NM_001267550.2(TTN):c.83649G>C (p.Lys27883Asn)
|
rs878854337
|
0.00001
|
|
NM_001267550.2(TTN):c.83984A>C (p.Asn27995Thr)
|
rs751728774
|
0.00001
|
|
NM_001267550.2(TTN):c.84011A>G (p.Lys28004Arg)
|
rs776987640
|
0.00001
|
|
NM_001267550.2(TTN):c.84187C>T (p.Arg28063Cys)
|
rs539595292
|
0.00001
|
|
NM_001267550.2(TTN):c.84335C>T (p.Thr28112Ile)
|
rs1429490203
|
0.00001
|
|
NM_001267550.2(TTN):c.84398A>G (p.Asn28133Ser)
|
rs727505053
|
0.00001
|
|
NM_001267550.2(TTN):c.84497C>T (p.Ala28166Val)
|
rs1553564661
|
0.00001
|
|
NM_001267550.2(TTN):c.84574G>A (p.Glu28192Lys)
|
rs879123930
|
0.00001
|
|
NM_001267550.2(TTN):c.85036A>C (p.Ile28346Leu)
|
rs912296403
|
0.00001
|
|
NM_001267550.2(TTN):c.85119G>T (p.Glu28373Asp)
|
rs770787056
|
0.00001
|
|
NM_001267550.2(TTN):c.85204G>A (p.Ala28402Thr)
|
rs1060500439
|
0.00001
|
|
NM_001267550.2(TTN):c.85649T>A (p.Val28550Asp)
|
rs727505194
|
0.00001
|
|
NM_001267550.2(TTN):c.85979T>C (p.Ile28660Thr)
|
rs397517733
|
0.00001
|
|
NM_001267550.2(TTN):c.86140G>A (p.Gly28714Arg)
|
rs532818379
|
0.00001
|
|
NM_001267550.2(TTN):c.8648A>G (p.His2883Arg)
|
rs753833148
|
0.00001
|
|
NM_001267550.2(TTN):c.86821+3A>G
|
rs1010541689
|
0.00001
|
|
NM_001267550.2(TTN):c.86836C>G (p.Pro28946Ala)
|
rs748587720
|
0.00001
|
|
NM_001267550.2(TTN):c.86846T>C (p.Leu28949Pro)
|
rs745542033
|
0.00001
|
|
NM_001267550.2(TTN):c.87001G>A (p.Val29001Ile)
|
rs750591986
|
0.00001
|
|
NM_001267550.2(TTN):c.87131T>C (p.Ile29044Thr)
|
rs768120552
|
0.00001
|
|
NM_001267550.2(TTN):c.87387C>G (p.Phe29129Leu)
|
rs1335641292
|
0.00001
|
|
NM_001267550.2(TTN):c.87836G>C (p.Arg29279Thr)
|
rs773541746
|
0.00001
|
|
NM_001267550.2(TTN):c.88009+5G>A
|
rs148231754
|
0.00001
|
|
NM_001267550.2(TTN):c.88063T>C (p.Ser29355Pro)
|
rs768443497
|
0.00001
|
|
NM_001267550.2(TTN):c.88109A>G (p.Tyr29370Cys)
|
rs756679529
|
0.00001
|
|
NM_001267550.2(TTN):c.88156A>T (p.Ser29386Cys)
|
rs727505102
|
0.00001
|
|
NM_001267550.2(TTN):c.88163C>T (p.Thr29388Ile)
|
rs775200192
|
0.00001
|
|
NM_001267550.2(TTN):c.88514G>A (p.Arg29505His)
|
rs143193258
|
0.00001
|
|
NM_001267550.2(TTN):c.88667G>A (p.Arg29556Gln)
|
rs1207034709
|
0.00001
|
|
NM_001267550.2(TTN):c.88820G>A (p.Arg29607Gln)
|
rs755212831
|
0.00001
|
|
NM_001267550.2(TTN):c.88863A>C (p.Glu29621Asp)
|
rs750981091
|
0.00001
|
|
NM_001267550.2(TTN):c.88933A>T (p.Ile29645Phe)
|
rs746067385
|
0.00001
|
|
NM_001267550.2(TTN):c.89072C>A (p.Thr29691Asn)
|
rs794729525
|
0.00001
|
|
NM_001267550.2(TTN):c.89114A>G (p.Gln29705Arg)
|
rs752538734
|
0.00001
|
|
NM_001267550.2(TTN):c.89207G>C (p.Gly29736Ala)
|
rs1454670479
|
0.00001
|
|
NM_001267550.2(TTN):c.89425C>T (p.Arg29809Trp)
|
rs112777680
|
0.00001
|
|
NM_001267550.2(TTN):c.89479C>A (p.Pro29827Thr)
|
rs201620815
|
0.00001
|
|
NM_001267550.2(TTN):c.8954C>G (p.Thr2985Ser)
|
rs1553992057
|
0.00001
|
|
NM_001267550.2(TTN):c.89628T>G (p.Asp29876Glu)
|
rs397517743
|
0.00001
|
|
NM_001267550.2(TTN):c.89689C>T (p.Leu29897Phe)
|
rs180798672
|
0.00001
|
|
NM_001267550.2(TTN):c.8987G>T (p.Gly2996Val)
|
rs779053650
|
0.00001
|
|
NM_001267550.2(TTN):c.90041G>A (p.Gly30014Glu)
|
rs1359003253
|
0.00001
|
|
NM_001267550.2(TTN):c.90103C>T (p.Arg30035Cys)
|
rs397517747
|
0.00001
|
|
NM_001267550.2(TTN):c.90149G>C (p.Ser30050Thr)
|
rs752534032
|
0.00001
|
|
NM_001267550.2(TTN):c.90159A>C (p.Lys30053Asn)
|
rs886039117
|
0.00001
|
|
NM_001267550.2(TTN):c.90742G>A (p.Val30248Ile)
|
rs727505024
|
0.00001
|
|
NM_001267550.2(TTN):c.91022T>A (p.Met30341Lys)
|
rs1379791737
|
0.00001
|
|
NM_001267550.2(TTN):c.91160C>T (p.Thr30387Ile)
|
rs754591100
|
0.00001
|
|
NM_001267550.2(TTN):c.91199A>T (p.Tyr30400Phe)
|
rs376494747
|
0.00001
|
|
NM_001267550.2(TTN):c.91277C>T (p.Pro30426Leu)
|
rs774454485
|
0.00001
|
|
NM_001267550.2(TTN):c.91352G>A (p.Gly30451Asp)
|
rs751610164
|
0.00001
|
|
NM_001267550.2(TTN):c.91385G>A (p.Arg30462Gln)
|
rs794729529
|
0.00001
|
|
NM_001267550.2(TTN):c.91475A>G (p.Tyr30492Cys)
|
rs769678577
|
0.00001
|
|
NM_001267550.2(TTN):c.91536T>A (p.Ser30512=)
|
rs769873625
|
0.00001
|
|
NM_001267550.2(TTN):c.9163+3A>G
|
rs760597240
|
0.00001
|
|
NM_001267550.2(TTN):c.9164-9del
|
rs752677873
|
0.00001
|
|
NM_001267550.2(TTN):c.91813T>A (p.Ser30605Thr)
|
rs984360776
|
0.00001
|
|
NM_001267550.2(TTN):c.91915C>G (p.Leu30639Val)
|
rs373049260
|
0.00001
|
|
NM_001267550.2(TTN):c.9200T>C (p.Ile3067Thr)
|
rs1435097269
|
0.00001
|
|
NM_001267550.2(TTN):c.92291C>A (p.Thr30764Lys)
|
rs376537509
|
0.00001
|
|
NM_001267550.2(TTN):c.92381A>G (p.His30794Arg)
|
rs773998423
|
0.00001
|
|
NM_001267550.2(TTN):c.92449G>C (p.Glu30817Gln)
|
rs529196025
|
0.00001
|
|
NM_001267550.2(TTN):c.92488G>A (p.Val30830Ile)
|
rs376287060
|
0.00001
|
|
NM_001267550.2(TTN):c.92520A>T (p.Leu30840Phe)
|
rs772574748
|
0.00001
|
|
NM_001267550.2(TTN):c.92582G>A (p.Cys30861Tyr)
|
rs1045877862
|
0.00001
|
|
NM_001267550.2(TTN):c.92821G>A (p.Ala30941Thr)
|
rs777150584
|
0.00001
|
|
NM_001267550.2(TTN):c.92905C>T (p.Arg30969Trp)
|
rs754767262
|
0.00001
|
|
NM_001267550.2(TTN):c.9303C>G (p.Asp3101Glu)
|
rs148676491
|
0.00001
|
|
NM_001267550.2(TTN):c.9305+4A>C
|
rs746628782
|
0.00001
|
|
NM_001267550.2(TTN):c.93089G>A (p.Arg31030Gln)
|
rs766391515
|
0.00001
|
|
NM_001267550.2(TTN):c.93262T>G (p.Phe31088Val)
|
rs1023137329
|
0.00001
|
|
NM_001267550.2(TTN):c.93683A>G (p.Lys31228Arg)
|
rs368714667
|
0.00001
|
|
NM_001267550.2(TTN):c.93866C>A (p.Thr31289Asn)
|
rs371666313
|
0.00001
|
|
NM_001267550.2(TTN):c.94142T>C (p.Phe31381Ser)
|
rs751185223
|
0.00001
|
|
NM_001267550.2(TTN):c.94157A>C (p.Glu31386Ala)
|
rs772833696
|
0.00001
|
|
NM_001267550.2(TTN):c.9449G>A (p.Arg3150Gln)
|
rs141093658
|
0.00001
|
|
NM_001267550.2(TTN):c.94502T>C (p.Ile31501Thr)
|
rs758756316
|
0.00001
|
|
NM_001267550.2(TTN):c.94559G>A (p.Arg31520Lys)
|
rs879111902
|
0.00001
|
|
NM_001267550.2(TTN):c.94634G>A (p.Arg31545His)
|
rs920039018
|
0.00001
|
|
NM_001267550.2(TTN):c.94773C>T (p.Gly31591=)
|
rs897518524
|
0.00001
|
|
NM_001267550.2(TTN):c.94807G>T (p.Val31603Phe)
|
rs1060500567
|
0.00001
|
|
NM_001267550.2(TTN):c.94880T>C (p.Ile31627Thr)
|
rs751714990
|
0.00001
|
|
NM_001267550.2(TTN):c.94985T>A (p.Val31662Asp)
|
rs1164809267
|
0.00001
|
|
NM_001267550.2(TTN):c.9502T>G (p.Phe3168Val)
|
rs746038856
|
0.00001
|
|
NM_001267550.2(TTN):c.95085G>T (p.Gly31695=)
|
rs746787955
|
0.00001
|
|
NM_001267550.2(TTN):c.95111A>G (p.Lys31704Arg)
|
rs754379972
|
0.00001
|
|
NM_001267550.2(TTN):c.95119G>C (p.Asp31707His)
|
rs1360232560
|
0.00001
|
|
NM_001267550.2(TTN):c.95219T>C (p.Ile31740Thr)
|
rs200781956
|
0.00001
|
|
NM_001267550.2(TTN):c.95281G>A (p.Glu31761Lys)
|
rs727505342
|
0.00001
|
|
NM_001267550.2(TTN):c.95368C>T (p.Pro31790Ser)
|
rs1235693684
|
0.00001
|
|
NM_001267550.2(TTN):c.95413T>C (p.Phe31805Leu)
|
rs537065526
|
0.00001
|
|
NM_001267550.2(TTN):c.95497T>A (p.Ser31833Thr)
|
rs764271138
|
0.00001
|
|
NM_001267550.2(TTN):c.95539C>T (p.Arg31847Cys)
|
rs774814532
|
0.00001
|
|
NM_001267550.2(TTN):c.95562G>C (p.Trp31854Cys)
|
rs752756889
|
0.00001
|
|
NM_001267550.2(TTN):c.95645G>A (p.Arg31882Gln)
|
rs767746607
|
0.00001
|
|
NM_001267550.2(TTN):c.95765C>G (p.Thr31922Ser)
|
rs769771566
|
0.00001
|
|
NM_001267550.2(TTN):c.95983G>A (p.Glu31995Lys)
|
rs776682000
|
0.00001
|
|
NM_001267550.2(TTN):c.96422T>A (p.Ile32141Asn)
|
rs753559586
|
0.00001
|
|
NM_001267550.2(TTN):c.96462A>G (p.Thr32154=)
|
rs776263585
|
0.00001
|
|
NM_001267550.2(TTN):c.96685G>A (p.Asp32229Asn)
|
rs770101398
|
0.00001
|
|
NM_001267550.2(TTN):c.96698G>A (p.Arg32233Gln)
|
rs755082341
|
0.00001
|
|
NM_001267550.2(TTN):c.96715C>T (p.Leu32239Phe)
|
rs889392294
|
0.00001
|
|
NM_001267550.2(TTN):c.96782A>G (p.Glu32261Gly)
|
rs1060500578
|
0.00001
|
|
NM_001267550.2(TTN):c.97003C>T (p.Pro32335Ser)
|
rs779886174
|
0.00001
|
|
NM_001267550.2(TTN):c.97192+4A>G
|
rs370069759
|
0.00001
|
|
NM_001267550.2(TTN):c.971C>T (p.Pro324Leu)
|
rs939333996
|
0.00001
|
|
NM_001267550.2(TTN):c.97405G>A (p.Glu32469Lys)
|
rs1280768790
|
0.00001
|
|
NM_001267550.2(TTN):c.97417C>T (p.Arg32473Cys)
|
rs371924787
|
0.00001
|
|
NM_001267550.2(TTN):c.97426G>A (p.Ala32476Thr)
|
rs760169773
|
0.00001
|
|
NM_001267550.2(TTN):c.974T>C (p.Leu325Ser)
|
rs755076118
|
0.00001
|
|
NM_001267550.2(TTN):c.97586C>A (p.Ser32529Tyr)
|
rs1060500480
|
0.00001
|
|
NM_001267550.2(TTN):c.97612C>T (p.Arg32538Cys)
|
rs761050391
|
0.00001
|
|
NM_001267550.2(TTN):c.9770G>A (p.Arg3257His)
|
rs535876380
|
0.00001
|
|
NM_001267550.2(TTN):c.97792A>G (p.Ile32598Val)
|
rs372075164
|
0.00001
|
|
NM_001267550.2(TTN):c.97892A>T (p.Lys32631Ile)
|
rs944963846
|
0.00001
|
|
NM_001267550.2(TTN):c.97910T>C (p.Ile32637Thr)
|
rs794729547
|
0.00001
|
|
NM_001267550.2(TTN):c.97947G>C (p.Lys32649Asn)
|
rs773776767
|
0.00001
|
|
NM_001267550.2(TTN):c.98237G>A (p.Ser32746Asn)
|
rs1410694267
|
0.00001
|
|
NM_001267550.2(TTN):c.98426A>C (p.Gln32809Pro)
|
rs1060500398
|
0.00001
|
|
NM_001267550.2(TTN):c.98615C>G (p.Ala32872Gly)
|
rs150288160
|
0.00001
|
|
NM_001267550.2(TTN):c.98687C>T (p.Pro32896Leu)
|
rs1335232513
|
0.00001
|
|
NM_001267550.2(TTN):c.98743A>G (p.Ser32915Gly)
|
rs760917372
|
0.00001
|
|
NM_001267550.2(TTN):c.98867T>C (p.Met32956Thr)
|
rs727504962
|
0.00001
|
|
NM_001267550.2(TTN):c.98907G>C (p.Gln32969His)
|
rs1018386868
|
0.00001
|
|
NM_001267550.2(TTN):c.99062A>G (p.Lys33021Arg)
|
rs749757136
|
0.00001
|
|
NM_001267550.2(TTN):c.99160A>C (p.Lys33054Gln)
|
rs1553507202
|
0.00001
|
|
NM_001267550.2(TTN):c.99176C>T (p.Thr33059Ile)
|
rs1038769207
|
0.00001
|
|
NM_001267550.2(TTN):c.99544G>A (p.Val33182Ile)
|
rs1060500530
|
0.00001
|
|
NM_001267550.2(TTN):c.99836T>G (p.Val33279Gly)
|
rs770098799
|
0.00001
|
|
NM_001267550.2(TTN):c.9983T>C (p.Val3328Ala)
|
rs1060500412
|
0.00001
|
|
NM_001267550.2(TTN):c.99913A>G (p.Lys33305Glu)
|
rs1553503789
|
0.00001
|
|
NM_001276345.2(TNNT2):c.100C>A (p.Gln34Lys)
|
rs1350800220
|
0.00001
|
|
NM_001276345.2(TNNT2):c.105G>T (p.Glu35Asp)
|
rs1660031053
|
0.00001
|
|
NM_001276345.2(TNNT2):c.136G>C (p.Ala46Pro)
|
rs397516447
|
0.00001
|
|
NM_001276345.2(TNNT2):c.145G>A (p.Glu49Lys)
|
rs757526942
|
0.00001
|
|
NM_001276345.2(TNNT2):c.163+1G>T
|
rs113051005
|
0.00001
|
|
NM_001276345.2(TNNT2):c.20T>C (p.Val7Ala)
|
rs970498944
|
0.00001
|
|
NM_001276345.2(TNNT2):c.230C>T (p.Pro77Leu)
|
rs769040140
|
0.00001
|
|
NM_001276345.2(TNNT2):c.233+6T>C
|
rs397516449
|
0.00001
|
|
NM_001276345.2(TNNT2):c.254T>G (p.Val85Gly)
|
rs730881095
|
0.00001
|
|
NM_001276345.2(TNNT2):c.277G>A (p.Glu93Lys)
|
rs727504244
|
0.00001
|
|
NM_001276345.2(TNNT2):c.281dup (p.Val95fs)
|
rs780087395
|
0.00001
|
|
NM_001276345.2(TNNT2):c.33C>T (p.Tyr11=)
|
rs148027842
|
0.00001
|
|
NM_001276345.2(TNNT2):c.349G>A (p.Glu117Lys)
|
rs730881099
|
0.00001
|
|
NM_001276345.2(TNNT2):c.395C>G (p.Ser132Cys)
|
rs1659426786
|
0.00001
|
|
NM_001276345.2(TNNT2):c.404A>T (p.Asp135Val)
|
rs759758840
|
0.00001
|
|
NM_001276345.2(TNNT2):c.411+1G>A
|
rs766666484
|
0.00001
|
|
NM_001276345.2(TNNT2):c.411C>T (p.Ile137=)
|
rs727504322
|
0.00001
|
|
NM_001276345.2(TNNT2):c.412G>A (p.Glu138Lys)
|
rs730881100
|
0.00001
|
|
NM_001276345.2(TNNT2):c.419G>A (p.Arg140His)
|
rs1339922051
|
0.00001
|
|
NM_001276345.2(TNNT2):c.438G>T (p.Glu146Asp)
|
rs141754300
|
0.00001
|
|
NM_001276345.2(TNNT2):c.472C>T (p.Arg158Trp)
|
rs730881123
|
0.00001
|
|
NM_001276345.2(TNNT2):c.473G>A (p.Arg158Gln)
|
rs730881102
|
0.00001
|
|
NM_001276345.2(TNNT2):c.482G>A (p.Arg161His)
|
rs201048783
|
0.00001
|
|
NM_001276345.2(TNNT2):c.487G>T (p.Ala163Ser)
|
rs727505030
|
0.00001
|
|
NM_001276345.2(TNNT2):c.490-1G>C
|
rs111344408
|
0.00001
|
|
NM_001276345.2(TNNT2):c.52+6C>T
|
rs397516472
|
0.00001
|
|
NM_001276345.2(TNNT2):c.557A>C (p.Lys186Thr)
|
rs1486862820
|
0.00001
|
|
NM_001276345.2(TNNT2):c.601-1G>A
|
rs483352835
|
0.00001
|
|
NM_001276345.2(TNNT2):c.613G>A (p.Glu205Lys)
|
rs150008205
|
0.00001
|
|
NM_001276345.2(TNNT2):c.659A>T (p.Lys220Met)
|
rs190805300
|
0.00001
|
|
NM_001276345.2(TNNT2):c.677G>A (p.Arg226Lys)
|
rs1205564576
|
0.00001
|
|
NM_001276345.2(TNNT2):c.67G>A (p.Glu23Lys)
|
rs772966842
|
0.00001
|
|
NM_001276345.2(TNNT2):c.720-3C>T
|
rs373092494
|
0.00001
|
|
NM_001276345.2(TNNT2):c.752A>G (p.Tyr251Cys)
|
rs200500421
|
0.00001
|
|
NM_001276345.2(TNNT2):c.775G>A (p.Asp259Asn)
|
rs141805127
|
0.00001
|
|
NM_001276345.2(TNNT2):c.810+1G>A
|
rs113874623
|
0.00001
|
|
NM_001276345.2(TNNT2):c.815A>G (p.Asn272Ser)
|
rs397516483
|
0.00001
|
|
NM_001276345.2(TNNT2):c.835A>G (p.Asn279Asp)
|
rs4523540
|
0.00001
|
|
NM_001289808.2(CRYAB):c.102G>T (p.Glu34Asp)
|
rs886047688
|
0.00001
|
|
NM_001289808.2(CRYAB):c.10G>A (p.Ala4Thr)
|
rs1264081192
|
0.00001
|
|
NM_001289808.2(CRYAB):c.112T>C (p.Phe38Leu)
|
rs1237590699
|
0.00001
|
|
NM_001289808.2(CRYAB):c.127T>G (p.Ser43Ala)
|
rs1359865460
|
0.00001
|
|
NM_001289808.2(CRYAB):c.133A>G (p.Ser45Gly)
|
rs1450798906
|
0.00001
|
|
NM_001289808.2(CRYAB):c.134G>A (p.Ser45Asn)
|
rs931730154
|
0.00001
|
|
NM_001289808.2(CRYAB):c.148C>T (p.Arg50Trp)
|
rs1555165555
|
0.00001
|
|
NM_001289808.2(CRYAB):c.149G>A (p.Arg50Gln)
|
rs781846534
|
0.00001
|
|
NM_001289808.2(CRYAB):c.206G>A (p.Arg69His)
|
rs987496548
|
0.00001
|
|
NM_001289808.2(CRYAB):c.20A>G (p.His7Arg)
|
rs1467726434
|
0.00001
|
|
NM_001289808.2(CRYAB):c.324+3A>G
|
rs1057520897
|
0.00001
|
|
NM_001289808.2(CRYAB):c.324G>C (p.Gln108His)
|
rs886039099
|
0.00001
|
|
NM_001289808.2(CRYAB):c.35G>A (p.Arg12His)
|
rs930811941
|
0.00001
|
|
NM_001289808.2(CRYAB):c.362A>G (p.Lys121Arg)
|
rs781915800
|
0.00001
|
|
NM_001289808.2(CRYAB):c.38C>T (p.Pro13Leu)
|
rs1461109639
|
0.00001
|
|
NM_001289808.2(CRYAB):c.406T>A (p.Ser136Thr)
|
rs371079119
|
0.00001
|
|
NM_001289808.2(CRYAB):c.461G>A (p.Gly154Asp)
|
rs1555165228
|
0.00001
|
|
NM_001289808.2(CRYAB):c.485C>T (p.Thr162Ile)
|
rs199861008
|
0.00001
|
|
NM_001289808.2(CRYAB):c.488G>A (p.Arg163His)
|
rs782207078
|
0.00001
|
|
NM_001289808.2(CRYAB):c.511G>A (p.Ala171Thr)
|
rs370803064
|
0.00001
|
|
NM_001289808.2(CRYAB):c.52C>T (p.His18Tyr)
|
rs373032047
|
0.00001
|
|
NM_001318895.3(FHL2):c.104T>G (p.Leu35Arg)
|
rs1470032926
|
0.00001
|
|
NM_001318895.3(FHL2):c.130G>A (p.Gly44Arg)
|
rs780938900
|
0.00001
|
|
NM_001318895.3(FHL2):c.176G>A (p.Arg59Gln)
|
rs766070936
|
0.00001
|
|
NM_001318895.3(FHL2):c.193T>C (p.Cys65Arg)
|
rs768709080
|
0.00001
|
|
NM_001318895.3(FHL2):c.211T>G (p.Cys71Gly)
|
rs1255979544
|
0.00001
|
|
NM_001318895.3(FHL2):c.224T>G (p.Leu75Arg)
|
rs1208356626
|
0.00001
|
|
NM_001318895.3(FHL2):c.406A>G (p.Ile136Val)
|
rs780774664
|
0.00001
|
|
NM_001318895.3(FHL2):c.509C>T (p.Thr170Ile)
|
rs750539692
|
0.00001
|
|
NM_001318895.3(FHL2):c.595C>T (p.Arg199Cys)
|
rs373259092
|
0.00001
|
|
NM_001318895.3(FHL2):c.72G>C (p.Glu24Asp)
|
rs781170250
|
0.00001
|
|
NM_001318895.3(FHL2):c.739G>A (p.Asp247Asn)
|
rs769888361
|
0.00001
|
|
NM_001318895.3(FHL2):c.815G>A (p.Cys272Tyr)
|
rs773266937
|
0.00001
|
|
NM_001347702.2(SYNE1):c.1447A>T (p.Met483Leu)
|
rs372305836
|
0.00001
|
|
NM_001386795.1(DTNA):c.1030G>A (p.Asp344Asn)
|
rs374347283
|
0.00001
|
|
NM_001386795.1(DTNA):c.1259A>G (p.Gln420Arg)
|
rs754697522
|
0.00001
|
|
NM_001386795.1(DTNA):c.1309G>A (p.Gly437Arg)
|
rs373427602
|
0.00001
|
|
NM_001386795.1(DTNA):c.1324A>G (p.Met442Val)
|
rs763206573
|
0.00001
|
|
NM_001386795.1(DTNA):c.1345T>C (p.Cys449Arg)
|
rs377526715
|
0.00001
|
|
NM_001386795.1(DTNA):c.1347-1G>A
|
rs772088612
|
0.00001
|
|
NM_001386795.1(DTNA):c.1352T>C (p.Leu451Pro)
|
rs2096416305
|
0.00001
|
|
NM_001386795.1(DTNA):c.1397G>C (p.Arg466Thr)
|
rs762579551
|
0.00001
|
|
NM_001386795.1(DTNA):c.1444C>G (p.Gln482Glu)
|
rs775527586
|
0.00001
|
|
NM_001386795.1(DTNA):c.146A>G (p.Asn49Ser)
|
rs775975702
|
0.00001
|
|
NM_001386795.1(DTNA):c.1484C>T (p.Ala495Val)
|
rs760288717
|
0.00001
|
|
NM_001386795.1(DTNA):c.1598A>G (p.Glu533Gly)
|
rs546897344
|
0.00001
|
|
NM_001386795.1(DTNA):c.1636C>T (p.Arg546Trp)
|
rs371363393
|
0.00001
|
|
NM_001386795.1(DTNA):c.1696C>T (p.Arg566Trp)
|
rs1173408567
|
0.00001
|
|
NM_001386795.1(DTNA):c.1753G>A (p.Ala585Thr)
|
rs767501382
|
0.00001
|
|
NM_001386795.1(DTNA):c.1820C>T (p.Ala607Val)
|
rs773170065
|
0.00001
|
|
NM_001386795.1(DTNA):c.2101C>T (p.His701Tyr)
|
rs772866088
|
0.00001
|
|
NM_001386795.1(DTNA):c.2186A>G (p.Tyr729Cys)
|
rs756932426
|
0.00001
|
|
NM_001386795.1(DTNA):c.2195C>T (p.Pro732Leu)
|
rs1456993704
|
0.00001
|
|
NM_001386795.1(DTNA):c.2200G>A (p.Asp734Asn)
|
rs769251451
|
0.00001
|
|
NM_001386795.1(DTNA):c.2224G>T (p.Val742Phe)
|
rs533568822
|
0.00001
|
|
NM_001386795.1(DTNA):c.2228G>A (p.Arg743Gln)
|
rs371303988
|
0.00001
|
|
NM_001386795.1(DTNA):c.295A>G (p.Thr99Ala)
|
rs200736432
|
0.00001
|
|
NM_001386795.1(DTNA):c.322A>G (p.Ile108Val)
|
rs1201061306
|
0.00001
|
|
NM_001386795.1(DTNA):c.481G>A (p.Val161Met)
|
rs1302999147
|
0.00001
|
|
NM_001386795.1(DTNA):c.506A>G (p.Gln169Arg)
|
rs201674479
|
0.00001
|
|
NM_001386795.1(DTNA):c.646G>T (p.Asp216Tyr)
|
rs769662524
|
0.00001
|
|
NM_001386795.1(DTNA):c.660G>T (p.Gln220His)
|
rs1031348434
|
0.00001
|
|
NM_001386795.1(DTNA):c.695C>T (p.Ala232Val)
|
rs771510372
|
0.00001
|
|
NM_001386795.1(DTNA):c.784C>T (p.His262Tyr)
|
rs369043538
|
0.00001
|
|
NM_001386795.1(DTNA):c.824A>G (p.His275Arg)
|
rs373047659
|
0.00001
|
|
NM_001386795.1(DTNA):c.829G>A (p.Gly277Ser)
|
rs1196384917
|
0.00001
|
|
NM_001386795.1(DTNA):c.86G>A (p.Arg29His)
|
rs1249921119
|
0.00001
|
|
NM_001386795.1(DTNA):c.944C>G (p.Pro315Arg)
|
rs138085660
|
0.00001
|
|
NM_001386795.1(DTNA):c.969G>C (p.Gln323His)
|
rs201472116
|
0.00001
|
|
NM_001458.5(FLNC):c.1052C>T (p.Thr351Ile)
|
rs1309343033
|
0.00001
|
|
NM_001458.5(FLNC):c.1054G>A (p.Val352Met)
|
rs773023988
|
0.00001
|
|
NM_001458.5(FLNC):c.1097T>C (p.Val366Ala)
|
rs1324323411
|
0.00001
|
|
NM_001458.5(FLNC):c.1171G>A (p.Val391Met)
|
rs757887021
|
0.00001
|
|
NM_001458.5(FLNC):c.1186A>G (p.Thr396Ala)
|
rs1437029966
|
0.00001
|
|
NM_001458.5(FLNC):c.1216G>A (p.Gly406Ser)
|
rs1343684536
|
0.00001
|
|
NM_001458.5(FLNC):c.125T>C (p.Phe42Ser)
|
rs777706683
|
0.00001
|
|
NM_001458.5(FLNC):c.1328C>T (p.Ala443Val)
|
rs1808207788
|
0.00001
|
|
NM_001458.5(FLNC):c.1364C>T (p.Ala455Val)
|
rs777210524
|
0.00001
|
|
NM_001458.5(FLNC):c.1367G>T (p.Gly456Val)
|
rs765622614
|
0.00001
|
|
NM_001458.5(FLNC):c.1412-3del
|
rs765490580
|
0.00001
|
|
NM_001458.5(FLNC):c.1418A>G (p.Asn473Ser)
|
rs747289343
|
0.00001
|
|
NM_001458.5(FLNC):c.1433G>A (p.Arg478His)
|
rs749593461
|
0.00001
|
|
NM_001458.5(FLNC):c.1468C>T (p.Arg490Cys)
|
rs1422233407
|
0.00001
|
|
NM_001458.5(FLNC):c.1506G>A (p.Lys502=)
|
rs749823564
|
0.00001
|
|
NM_001458.5(FLNC):c.1508G>A (p.Gly503Asp)
|
rs1483134760
|
0.00001
|
|
NM_001458.5(FLNC):c.152A>G (p.Lys51Arg)
|
rs1807854319
|
0.00001
|
|
NM_001458.5(FLNC):c.1553G>A (p.Gly518Asp)
|
rs1168879153
|
0.00001
|
|
NM_001458.5(FLNC):c.1591G>A (p.Gly531Ser)
|
rs779855512
|
0.00001
|
|
NM_001458.5(FLNC):c.1609T>G (p.Tyr537Asp)
|
rs760471547
|
0.00001
|
|
NM_001458.5(FLNC):c.161G>A (p.Gly54Asp)
|
rs1032152678
|
0.00001
|
|
NM_001458.5(FLNC):c.163A>C (p.Lys55Gln)
|
rs769870285
|
0.00001
|
|
NM_001458.5(FLNC):c.1663G>A (p.Ala555Thr)
|
rs1163059574
|
0.00001
|
|
NM_001458.5(FLNC):c.1729T>G (p.Trp577Gly)
|
rs757878206
|
0.00001
|
|
NM_001458.5(FLNC):c.1771G>A (p.Asp591Asn)
|
rs768829742
|
0.00001
|
|
NM_001458.5(FLNC):c.1782G>A (p.Val594=)
|
rs1317106205
|
0.00001
|
|
NM_001458.5(FLNC):c.1825G>A (p.Glu609Lys)
|
rs758389160
|
0.00001
|
|
NM_001458.5(FLNC):c.185G>A (p.Arg62His)
|
rs1308771065
|
0.00001
|
|
NM_001458.5(FLNC):c.1867G>A (p.Asp623Asn)
|
rs912680912
|
0.00001
|
|
NM_001458.5(FLNC):c.1879G>A (p.Asp627Asn)
|
rs1256634062
|
0.00001
|
|
NM_001458.5(FLNC):c.1948C>G (p.Arg650Gly)
|
rs770606675
|
0.00001
|
|
NM_001458.5(FLNC):c.196G>T (p.Asp66Tyr)
|
rs1373245749
|
0.00001
|
|
NM_001458.5(FLNC):c.1979C>T (p.Pro660Leu)
|
rs775292418
|
0.00001
|
|
NM_001458.5(FLNC):c.2063C>T (p.Ala688Val)
|
rs772223832
|
0.00001
|
|
NM_001458.5(FLNC):c.2065G>A (p.Glu689Lys)
|
rs1446694237
|
0.00001
|
|
NM_001458.5(FLNC):c.2121+4G>A
|
rs372098008
|
0.00001
|
|
NM_001458.5(FLNC):c.2121+5G>A
|
rs376348610
|
0.00001
|
|
NM_001458.5(FLNC):c.2141T>C (p.Ile714Thr)
|
rs1554398541
|
0.00001
|
|
NM_001458.5(FLNC):c.214G>A (p.Ala72Thr)
|
rs751548628
|
0.00001
|
|
NM_001458.5(FLNC):c.2170G>A (p.Gly724Ser)
|
rs764774528
|
0.00001
|
|
NM_001458.5(FLNC):c.2179C>T (p.Arg727Cys)
|
rs752627571
|
0.00001
|
|
NM_001458.5(FLNC):c.2212C>G (p.His738Asp)
|
rs1236577531
|
0.00001
|
|
NM_001458.5(FLNC):c.2263C>T (p.Arg755Trp)
|
rs990718751
|
0.00001
|
|
NM_001458.5(FLNC):c.2264G>A (p.Arg755Gln)
|
rs781101985
|
0.00001
|
|
NM_001458.5(FLNC):c.2265+5G>A
|
rs1049500135
|
0.00001
|
|
NM_001458.5(FLNC):c.227T>G (p.Val76Gly)
|
rs1011301530
|
0.00001
|
|
NM_001458.5(FLNC):c.2293G>A (p.Glu765Lys)
|
rs373798394
|
0.00001
|
|
NM_001458.5(FLNC):c.2317G>A (p.Gly773Arg)
|
rs1322212555
|
0.00001
|
|
NM_001458.5(FLNC):c.2344A>G (p.Asn782Asp)
|
rs1055062421
|
0.00001
|
|
NM_001458.5(FLNC):c.2353A>G (p.Thr785Ala)
|
rs1808384296
|
0.00001
|
|
NM_001458.5(FLNC):c.2361C>G (p.Phe787Leu)
|
rs1471063024
|
0.00001
|
|
NM_001458.5(FLNC):c.2363C>T (p.Thr788Met)
|
rs1010774264
|
0.00001
|
|
NM_001458.5(FLNC):c.2375G>T (p.Ser792Ile)
|
rs1227658348
|
0.00001
|
|
NM_001458.5(FLNC):c.2380G>A (p.Ala794Thr)
|
rs1198975298
|
0.00001
|
|
NM_001458.5(FLNC):c.2389+4C>T
|
rs1057523921
|
0.00001
|
|
NM_001458.5(FLNC):c.2400C>A (p.Ser800Arg)
|
rs748717566
|
0.00001
|
|
NM_001458.5(FLNC):c.2404G>A (p.Gly802Ser)
|
rs371398126
|
0.00001
|
|
NM_001458.5(FLNC):c.2416G>A (p.Ala806Thr)
|
rs1386986739
|
0.00001
|
|
NM_001458.5(FLNC):c.2489C>T (p.Thr830Ile)
|
rs1367245869
|
0.00001
|
|
NM_001458.5(FLNC):c.2516G>A (p.Gly839Asp)
|
rs940353148
|
0.00001
|
|
NM_001458.5(FLNC):c.2617G>A (p.Glu873Lys)
|
rs771092335
|
0.00001
|
|
NM_001458.5(FLNC):c.2627G>T (p.Gly876Val)
|
rs534407127
|
0.00001
|
|
NM_001458.5(FLNC):c.2639C>T (p.Thr880Ile)
|
rs1324832799
|
0.00001
|
|
NM_001458.5(FLNC):c.263C>A (p.Pro88Gln)
|
rs1807860720
|
0.00001
|
|
NM_001458.5(FLNC):c.2642-3C>T
|
rs1808423104
|
0.00001
|
|
NM_001458.5(FLNC):c.2642G>T (p.Gly881Val)
|
rs377095070
|
0.00001
|
|
NM_001458.5(FLNC):c.2650G>T (p.Val884Phe)
|
rs770379589
|
0.00001
|
|
NM_001458.5(FLNC):c.2653G>A (p.Gly885Arg)
|
rs769110628
|
0.00001
|
|
NM_001458.5(FLNC):c.2666A>G (p.His889Arg)
|
rs1808424297
|
0.00001
|
|
NM_001458.5(FLNC):c.2674G>A (p.Val892Met)
|
rs200986712
|
0.00001
|
|
NM_001458.5(FLNC):c.2717T>C (p.Phe906Ser)
|
rs1212936871
|
0.00001
|
|
NM_001458.5(FLNC):c.2746C>T (p.Arg916Trp)
|
rs762095761
|
0.00001
|
|
NM_001458.5(FLNC):c.2767A>C (p.Asn923His)
|
rs1420123492
|
0.00001
|
|
NM_001458.5(FLNC):c.2780C>T (p.Ser927Phe)
|
rs1585158690
|
0.00001
|
|
NM_001458.5(FLNC):c.2811+4C>T
|
rs146715204
|
0.00001
|
|
NM_001458.5(FLNC):c.2811+5G>A
|
rs781538211
|
0.00001
|
|
NM_001458.5(FLNC):c.2821G>A (p.Ala941Thr)
|
rs1334463747
|
0.00001
|
|
NM_001458.5(FLNC):c.292G>C (p.Glu98Gln)
|
rs1195481399
|
0.00001
|
|
NM_001458.5(FLNC):c.2930A>G (p.Lys977Arg)
|
rs1808450221
|
0.00001
|
|
NM_001458.5(FLNC):c.2969C>T (p.Thr990Ile)
|
rs933349270
|
0.00001
|
|
NM_001458.5(FLNC):c.2983G>A (p.Gly995Ser)
|
rs752053093
|
0.00001
|
|
NM_001458.5(FLNC):c.3014C>T (p.Ser1005Leu)
|
rs752448040
|
0.00001
|
|
NM_001458.5(FLNC):c.3067G>C (p.Ala1023Pro)
|
rs376107866
|
0.00001
|
|
NM_001458.5(FLNC):c.3080G>A (p.Arg1027His)
|
rs904161285
|
0.00001
|
|
NM_001458.5(FLNC):c.3118A>G (p.Ile1040Val)
|
rs759012932
|
0.00001
|
|
NM_001458.5(FLNC):c.3137C>T (p.Pro1046Leu)
|
rs768820218
|
0.00001
|
|
NM_001458.5(FLNC):c.3152C>T (p.Pro1051Leu)
|
rs546130026
|
0.00001
|
|
NM_001458.5(FLNC):c.3266G>A (p.Gly1089Glu)
|
rs1258543242
|
0.00001
|
|
NM_001458.5(FLNC):c.3313G>T (p.Ala1105Ser)
|
rs751887771
|
0.00001
|
|
NM_001458.5(FLNC):c.3428C>T (p.Ser1143Leu)
|
rs756192123
|
0.00001
|
|
NM_001458.5(FLNC):c.3467G>A (p.Ser1156Asn)
|
rs768725458
|
0.00001
|
|
NM_001458.5(FLNC):c.3475C>T (p.Arg1159Trp)
|
rs760500171
|
0.00001
|
|
NM_001458.5(FLNC):c.3476G>A (p.Arg1159Gln)
|
rs141199483
|
0.00001
|
|
NM_001458.5(FLNC):c.3511G>A (p.Gly1171Ser)
|
rs769490872
|
0.00001
|
|
NM_001458.5(FLNC):c.352+3C>T
|
rs750255204
|
0.00001
|
|
NM_001458.5(FLNC):c.3553G>A (p.Glu1185Lys)
|
rs912926530
|
0.00001
|
|
NM_001458.5(FLNC):c.3589G>A (p.Gly1197Arg)
|
rs753812010
|
0.00001
|
|
NM_001458.5(FLNC):c.3745G>A (p.Asp1249Asn)
|
rs774968828
|
0.00001
|
|
NM_001458.5(FLNC):c.3785C>T (p.Pro1262Leu)
|
rs757144162
|
0.00001
|
|
NM_001458.5(FLNC):c.3793G>A (p.Val1265Ile)
|
rs368102638
|
0.00001
|
|
NM_001458.5(FLNC):c.3832A>G (p.Arg1278Gly)
|
rs772667448
|
0.00001
|
|
NM_001458.5(FLNC):c.3845C>T (p.Ala1282Val)
|
rs1256859746
|
0.00001
|
|
NM_001458.5(FLNC):c.3890G>A (p.Gly1297Glu)
|
rs771575526
|
0.00001
|
|
NM_001458.5(FLNC):c.3893C>T (p.Ala1298Val)
|
rs1064796931
|
0.00001
|
|
NM_001458.5(FLNC):c.3928G>A (p.Gly1310Ser)
|
rs767079356
|
0.00001
|
|
NM_001458.5(FLNC):c.3937C>G (p.Arg1313Gly)
|
rs766330686
|
0.00001
|
|
NM_001458.5(FLNC):c.3956A>G (p.Tyr1319Cys)
|
rs1808556919
|
0.00001
|
|
NM_001458.5(FLNC):c.4030G>A (p.Val1344Met)
|
rs374127804
|
0.00001
|
|
NM_001458.5(FLNC):c.4057G>A (p.Val1353Ile)
|
rs1321855034
|
0.00001
|
|
NM_001458.5(FLNC):c.4060C>G (p.Arg1354Gly)
|
rs138193236
|
0.00001
|
|
NM_001458.5(FLNC):c.4066T>G (p.Phe1356Val)
|
rs1276975364
|
0.00001
|
|
NM_001458.5(FLNC):c.4109G>A (p.Arg1370Gln)
|
rs761881020
|
0.00001
|
|
NM_001458.5(FLNC):c.4117G>A (p.Val1373Met)
|
rs1159994552
|
0.00001
|
|
NM_001458.5(FLNC):c.4133C>T (p.Ala1378Val)
|
rs748008658
|
0.00001
|
|
NM_001458.5(FLNC):c.4141G>A (p.Gly1381Arg)
|
rs766513255
|
0.00001
|
|
NM_001458.5(FLNC):c.4180A>G (p.Lys1394Glu)
|
rs1430761286
|
0.00001
|
|
NM_001458.5(FLNC):c.4219G>A (p.Val1407Met)
|
rs375366821
|
0.00001
|
|
NM_001458.5(FLNC):c.4229T>A (p.Ile1410Asn)
|
rs778951900
|
0.00001
|
|
NM_001458.5(FLNC):c.4288+3G>A
|
rs1199950013
|
0.00001
|
|
NM_001458.5(FLNC):c.4295C>T (p.Pro1432Leu)
|
rs1427806742
|
0.00001
|
|
NM_001458.5(FLNC):c.4310T>C (p.Val1437Ala)
|
rs754170282
|
0.00001
|
|
NM_001458.5(FLNC):c.4372A>G (p.Arg1458Gly)
|
rs762257502
|
0.00001
|
|
NM_001458.5(FLNC):c.439A>G (p.Met147Val)
|
rs539316555
|
0.00001
|
|
NM_001458.5(FLNC):c.43G>A (p.Gly15Ser)
|
rs1263243888
|
0.00001
|
|
NM_001458.5(FLNC):c.4421G>A (p.Arg1474Gln)
|
rs376380652
|
0.00001
|
|
NM_001458.5(FLNC):c.4471G>A (p.Val1491Met)
|
rs186904046
|
0.00001
|
|
NM_001458.5(FLNC):c.4474G>A (p.Glu1492Lys)
|
rs71581926
|
0.00001
|
|
NM_001458.5(FLNC):c.4483G>A (p.Asp1495Asn)
|
rs748265400
|
0.00001
|
|
NM_001458.5(FLNC):c.4549G>A (p.Val1517Ile)
|
rs532654321
|
0.00001
|
|
NM_001458.5(FLNC):c.4552A>C (p.Lys1518Gln)
|
rs778417108
|
0.00001
|
|
NM_001458.5(FLNC):c.4576C>T (p.Arg1526Cys)
|
rs746275035
|
0.00001
|
|
NM_001458.5(FLNC):c.4577G>A (p.Arg1526His)
|
rs374729872
|
0.00001
|
|
NM_001458.5(FLNC):c.4579A>G (p.Ser1527Gly)
|
rs747642919
|
0.00001
|
|
NM_001458.5(FLNC):c.4589A>G (p.Lys1530Arg)
|
rs756526090
|
0.00001
|
|
NM_001458.5(FLNC):c.4590G>T (p.Lys1530Asn)
|
rs778534100
|
0.00001
|
|
NM_001458.5(FLNC):c.4597G>A (p.Val1533Ile)
|
rs1554399973
|
0.00001
|
|
NM_001458.5(FLNC):c.4661T>C (p.Ile1554Thr)
|
rs777526166
|
0.00001
|
|
NM_001458.5(FLNC):c.4702G>A (p.Asp1568Asn)
|
rs1449992399
|
0.00001
|
|
NM_001458.5(FLNC):c.4741C>A (p.Pro1581Thr)
|
rs972936640
|
0.00001
|
|
NM_001458.5(FLNC):c.4779T>G (p.Asn1593Lys)
|
rs948081935
|
0.00001
|
|
NM_001458.5(FLNC):c.4790C>T (p.Thr1597Met)
|
rs753742681
|
0.00001
|
|
NM_001458.5(FLNC):c.4795A>G (p.Thr1599Ala)
|
rs2643767
|
0.00001
|
|
NM_001458.5(FLNC):c.4831A>T (p.Thr1611Ser)
|
rs770231264
|
0.00001
|
|
NM_001458.5(FLNC):c.4852G>A (p.Gly1618Ser)
|
rs367824027
|
0.00001
|
|
NM_001458.5(FLNC):c.4888G>A (p.Ala1630Thr)
|
rs1479430297
|
0.00001
|
|
NM_001458.5(FLNC):c.490C>T (p.Arg164Trp)
|
rs1460797312
|
0.00001
|
|
NM_001458.5(FLNC):c.4952G>A (p.Gly1651Asp)
|
rs762493974
|
0.00001
|
|
NM_001458.5(FLNC):c.4977G>C (p.Gln1659His)
|
rs1297786780
|
0.00001
|
|
NM_001458.5(FLNC):c.5054C>T (p.Pro1685Leu)
|
rs1385628312
|
0.00001
|
|
NM_001458.5(FLNC):c.5132C>T (p.Pro1711Leu)
|
rs748879903
|
0.00001
|
|
NM_001458.5(FLNC):c.5155C>T (p.Arg1719Cys)
|
rs773260834
|
0.00001
|
|
NM_001458.5(FLNC):c.5181C>A (p.Asn1727Lys)
|
rs764500516
|
0.00001
|
|
NM_001458.5(FLNC):c.5242C>T (p.Pro1748Ser)
|
rs1380018208
|
0.00001
|
|
NM_001458.5(FLNC):c.5251C>T (p.Arg1751Cys)
|
rs1585165163
|
0.00001
|
|
NM_001458.5(FLNC):c.5275C>T (p.Pro1759Ser)
|
rs892618706
|
0.00001
|
|
NM_001458.5(FLNC):c.5291C>A (p.Thr1764Lys)
|
rs1585165259
|
0.00001
|
|
NM_001458.5(FLNC):c.5293C>T (p.His1765Tyr)
|
rs1263073740
|
0.00001
|
|
NM_001458.5(FLNC):c.5303C>G (p.Thr1768Arg)
|
rs778860499
|
0.00001
|
|
NM_001458.5(FLNC):c.5320C>T (p.Pro1774Ser)
|
rs370823820
|
0.00001
|
|
NM_001458.5(FLNC):c.5332A>G (p.Met1778Val)
|
rs1347090077
|
0.00001
|
|
NM_001458.5(FLNC):c.5341A>G (p.Met1781Val)
|
rs540112341
|
0.00001
|
|
NM_001458.5(FLNC):c.5353T>A (p.Phe1785Ile)
|
rs1035403005
|
0.00001
|
|
NM_001458.5(FLNC):c.5395A>C (p.Thr1799Pro)
|
rs1243600050
|
0.00001
|
|
NM_001458.5(FLNC):c.5417C>T (p.Ser1806Leu)
|
rs1224086145
|
0.00001
|
|
NM_001458.5(FLNC):c.5440A>G (p.Ile1814Val)
|
rs1168575419
|
0.00001
|
|
NM_001458.5(FLNC):c.5446G>A (p.Asp1816Asn)
|
rs1198641168
|
0.00001
|
|
NM_001458.5(FLNC):c.5449A>T (p.Asn1817Tyr)
|
rs373146637
|
0.00001
|
|
NM_001458.5(FLNC):c.5451C>G (p.Asn1817Lys)
|
rs762869314
|
0.00001
|
|
NM_001458.5(FLNC):c.5508G>A (p.Met1836Ile)
|
rs1175006964
|
0.00001
|
|
NM_001458.5(FLNC):c.5524G>A (p.Gly1842Ser)
|
rs756880490
|
0.00001
|
|
NM_001458.5(FLNC):c.5758C>A (p.Pro1920Thr)
|
rs751937921
|
0.00001
|
|
NM_001458.5(FLNC):c.5788G>A (p.Val1930Met)
|
rs370076553
|
0.00001
|
|
NM_001458.5(FLNC):c.5828C>T (p.Thr1943Ile)
|
rs376413798
|
0.00001
|
|
NM_001458.5(FLNC):c.5842+6G>A
|
rs1010018310
|
0.00001
|
|
NM_001458.5(FLNC):c.5872A>T (p.Asn1958Tyr)
|
rs567595947
|
0.00001
|
|
NM_001458.5(FLNC):c.590A>G (p.Asn197Ser)
|
rs1008787584
|
0.00001
|
|
NM_001458.5(FLNC):c.5962G>A (p.Glu1988Lys)
|
rs1288953274
|
0.00001
|
|
NM_001458.5(FLNC):c.5996G>A (p.Arg1999Gln)
|
rs1346364708
|
0.00001
|
|
NM_001458.5(FLNC):c.59A>C (p.Glu20Ala)
|
rs1478918808
|
0.00001
|
|
NM_001458.5(FLNC):c.6000C>G (p.His2000Gln)
|
rs1254027067
|
0.00001
|
|
NM_001458.5(FLNC):c.6022A>G (p.Lys2008Glu)
|
rs772621794
|
0.00001
|
|
NM_001458.5(FLNC):c.6043G>A (p.Val2015Met)
|
rs775231810
|
0.00001
|
|
NM_001458.5(FLNC):c.6049G>A (p.Val2017Met)
|
rs1019545678
|
0.00001
|
|
NM_001458.5(FLNC):c.6068A>G (p.His2023Arg)
|
rs1808882683
|
0.00001
|
|
NM_001458.5(FLNC):c.606C>G (p.Leu202=)
|
rs1246016210
|
0.00001
|
|
NM_001458.5(FLNC):c.6094C>G (p.Leu2032Val)
|
rs773543205
|
0.00001
|
|
NM_001458.5(FLNC):c.6149G>A (p.Gly2050Glu)
|
rs1261109029
|
0.00001
|
|
NM_001458.5(FLNC):c.6200G>A (p.Arg2067His)
|
rs776520014
|
0.00001
|
|
NM_001458.5(FLNC):c.6233T>C (p.Ile2078Thr)
|
rs780762913
|
0.00001
|
|
NM_001458.5(FLNC):c.6271A>G (p.Met2091Val)
|
rs1438491751
|
0.00001
|
|
NM_001458.5(FLNC):c.6302G>A (p.Cys2101Tyr)
|
rs760120511
|
0.00001
|
|
NM_001458.5(FLNC):c.6328A>G (p.Ile2110Val)
|
rs1236042892
|
0.00001
|
|
NM_001458.5(FLNC):c.6388G>A (p.Gly2130Ser)
|
rs375778608
|
0.00001
|
|
NM_001458.5(FLNC):c.6391G>A (p.Glu2131Lys)
|
rs757511370
|
0.00001
|
|
NM_001458.5(FLNC):c.6398G>A (p.Arg2133His)
|
rs1808925531
|
0.00001
|
|
NM_001458.5(FLNC):c.6484+6A>T
|
rs764061858
|
0.00001
|
|
NM_001458.5(FLNC):c.6517C>T (p.Arg2173Cys)
|
rs767250474
|
0.00001
|
|
NM_001458.5(FLNC):c.6529A>G (p.Thr2177Ala)
|
rs1285672775
|
0.00001
|
|
NM_001458.5(FLNC):c.652G>A (p.Ala218Thr)
|
rs777415462
|
0.00001
|
|
NM_001458.5(FLNC):c.6559C>T (p.Arg2187Cys)
|
rs747336635
|
0.00001
|
|
NM_001458.5(FLNC):c.655C>T (p.Arg219Trp)
|
rs931787034
|
0.00001
|
|
NM_001458.5(FLNC):c.6568C>T (p.Arg2190Cys)
|
rs1474675847
|
0.00001
|
|
NM_001458.5(FLNC):c.6590G>A (p.Arg2197Gln)
|
rs760535041
|
0.00001
|
|
NM_001458.5(FLNC):c.6607C>T (p.Arg2203Cys)
|
rs758838323
|
0.00001
|
|
NM_001458.5(FLNC):c.6608G>A (p.Arg2203His)
|
rs1063262
|
0.00001
|
|
NM_001458.5(FLNC):c.6610G>A (p.Glu2204Lys)
|
rs1476564683
|
0.00001
|
|
NM_001458.5(FLNC):c.6640G>A (p.Gly2214Ser)
|
rs1431110219
|
0.00001
|
|
NM_001458.5(FLNC):c.6643G>A (p.Gly2215Arg)
|
rs1310201356
|
0.00001
|
|
NM_001458.5(FLNC):c.6659C>T (p.Ala2220Val)
|
rs370839908
|
0.00001
|
|
NM_001458.5(FLNC):c.6724G>A (p.Glu2242Lys)
|
rs1265897548
|
0.00001
|
|
NM_001458.5(FLNC):c.6728G>A (p.Gly2243Asp)
|
rs1311623651
|
0.00001
|
|
NM_001458.5(FLNC):c.6754G>A (p.Ala2252Thr)
|
rs963272191
|
0.00001
|
|
NM_001458.5(FLNC):c.6849G>A (p.Met2283Ile)
|
rs1375490850
|
0.00001
|
|
NM_001458.5(FLNC):c.6877C>T (p.Arg2293Cys)
|
rs571239463
|
0.00001
|
|
NM_001458.5(FLNC):c.6895G>A (p.Gly2299Ser)
|
rs756870838
|
0.00001
|
|
NM_001458.5(FLNC):c.699+5A>G
|
rs1808129501
|
0.00001
|
|
NM_001458.5(FLNC):c.6997+4A>G
|
rs1227552125
|
0.00001
|
|
NM_001458.5(FLNC):c.7030G>A (p.Ala2344Thr)
|
rs529917784
|
0.00001
|
|
NM_001458.5(FLNC):c.7094A>G (p.Lys2365Arg)
|
rs751765487
|
0.00001
|
|
NM_001458.5(FLNC):c.7135+6C>T
|
rs774739675
|
0.00001
|
|
NM_001458.5(FLNC):c.7151C>T (p.Ser2384Phe)
|
rs1219809283
|
0.00001
|
|
NM_001458.5(FLNC):c.7198C>G (p.Pro2400Ala)
|
rs1390223951
|
0.00001
|
|
NM_001458.5(FLNC):c.7222G>A (p.Ala2408Thr)
|
rs376257910
|
0.00001
|
|
NM_001458.5(FLNC):c.7225C>T (p.Arg2409Cys)
|
rs1244377387
|
0.00001
|
|
NM_001458.5(FLNC):c.730A>G (p.Asn244Asp)
|
rs1020489966
|
0.00001
|
|
NM_001458.5(FLNC):c.731A>G (p.Asn244Ser)
|
rs773579752
|
0.00001
|
|
NM_001458.5(FLNC):c.7324G>T (p.Ala2442Ser)
|
rs1160639957
|
0.00001
|
|
NM_001458.5(FLNC):c.7432A>G (p.Ile2478Val)
|
rs1430261045
|
0.00001
|
|
NM_001458.5(FLNC):c.748G>A (p.Val250Ile)
|
rs1562991895
|
0.00001
|
|
NM_001458.5(FLNC):c.7554C>T (p.Gly2518=)
|
rs761216494
|
0.00001
|
|
NM_001458.5(FLNC):c.7561G>A (p.Gly2521Ser)
|
rs746969946
|
0.00001
|
|
NM_001458.5(FLNC):c.7576T>A (p.Phe2526Ile)
|
rs373973635
|
0.00001
|
|
NM_001458.5(FLNC):c.7580T>C (p.Ile2527Thr)
|
rs749891076
|
0.00001
|
|
NM_001458.5(FLNC):c.7582G>A (p.Val2528Met)
|
rs1317229834
|
0.00001
|
|
NM_001458.5(FLNC):c.7588A>G (p.Thr2530Ala)
|
rs760694025
|
0.00001
|
|
NM_001458.5(FLNC):c.7604C>T (p.Ser2535Leu)
|
rs201895675
|
0.00001
|
|
NM_001458.5(FLNC):c.7647G>T (p.Gln2549His)
|
rs771689118
|
0.00001
|
|
NM_001458.5(FLNC):c.7652A>G (p.Asp2551Gly)
|
rs1040102987
|
0.00001
|
|
NM_001458.5(FLNC):c.7657C>T (p.Arg2553Trp)
|
rs199519281
|
0.00001
|
|
NM_001458.5(FLNC):c.7709A>G (p.Asn2570Ser)
|
rs1381739439
|
0.00001
|
|
NM_001458.5(FLNC):c.7732G>A (p.Gly2578Ser)
|
rs566747845
|
0.00001
|
|
NM_001458.5(FLNC):c.7807C>T (p.Leu2603Phe)
|
rs746685461
|
0.00001
|
|
NM_001458.5(FLNC):c.7834G>A (p.Glu2612Lys)
|
rs1183050599
|
0.00001
|
|
NM_001458.5(FLNC):c.7840G>A (p.Val2614Met)
|
rs745434129
|
0.00001
|
|
NM_001458.5(FLNC):c.7861C>T (p.Arg2621Trp)
|
rs1411832198
|
0.00001
|
|
NM_001458.5(FLNC):c.7903G>A (p.Ala2635Thr)
|
rs1009545372
|
0.00001
|
|
NM_001458.5(FLNC):c.7922G>A (p.Arg2641Gln)
|
rs760857362
|
0.00001
|
|
NM_001458.5(FLNC):c.7946T>C (p.Phe2649Ser)
|
rs755387909
|
0.00001
|
|
NM_001458.5(FLNC):c.802G>A (p.Val268Ile)
|
rs1210929657
|
0.00001
|
|
NM_001458.5(FLNC):c.8047T>A (p.Tyr2683Asn)
|
rs1377893206
|
0.00001
|
|
NM_001458.5(FLNC):c.806G>A (p.Arg269Gln)
|
rs1585152863
|
0.00001
|
|
NM_001458.5(FLNC):c.8089A>G (p.Thr2697Ala)
|
rs1292665355
|
0.00001
|
|
NM_001458.5(FLNC):c.8114T>C (p.Ile2705Thr)
|
rs553714847
|
0.00001
|
|
NM_001458.5(FLNC):c.8137G>A (p.Glu2713Lys)
|
rs758271134
|
0.00001
|
|
NM_001458.5(FLNC):c.8170G>T (p.Val2724Phe)
|
rs1220183666
|
0.00001
|
|
NM_001458.5(FLNC):c.842A>G (p.Tyr281Cys)
|
rs1202164075
|
0.00001
|
|
NM_001458.5(FLNC):c.856G>A (p.Glu286Lys)
|
rs1274480597
|
0.00001
|
|
NM_001458.5(FLNC):c.905C>T (p.Thr302Met)
|
rs776362922
|
0.00001
|
|
NM_001458.5(FLNC):c.943G>A (p.Glu315Lys)
|
rs756104407
|
0.00001
|
|
NM_001458.5(FLNC):c.969+4T>G
|
rs953435954
|
0.00001
|
|
NM_001458.5(FLNC):c.970-3T>C
|
rs1250140261
|
0.00001
|
|
NM_001927.4(DES):c.1023+6T>G
|
rs1039179103
|
0.00001
|
|
NM_001927.4(DES):c.1027G>A (p.Asp343Asn)
|
rs763903197
|
0.00001
|
|
NM_001927.4(DES):c.1038G>A (p.Met346Ile)
|
rs778340812
|
0.00001
|
|
NM_001927.4(DES):c.1047G>A (p.Met349Ile)
|
rs375005961
|
0.00001
|
|
NM_001927.4(DES):c.1079C>T (p.Ala360Val)
|
rs141592925
|
0.00001
|
|
NM_001927.4(DES):c.10G>A (p.Ala4Thr)
|
rs1239304442
|
0.00001
|
|
NM_001927.4(DES):c.1103C>T (p.Ala368Val)
|
rs371830218
|
0.00001
|
|
NM_001927.4(DES):c.1105C>T (p.Arg369Cys)
|
rs1475674849
|
0.00001
|
|
NM_001927.4(DES):c.1142T>C (p.Met381Thr)
|
rs779749720
|
0.00001
|
|
NM_001927.4(DES):c.1147C>T (p.Arg383Cys)
|
rs748945548
|
0.00001
|
|
NM_001927.4(DES):c.1148G>A (p.Arg383His)
|
rs1292042317
|
0.00001
|
|
NM_001927.4(DES):c.1156C>T (p.Arg386Cys)
|
rs369765867
|
0.00001
|
|
NM_001927.4(DES):c.1189G>T (p.Ala397Ser)
|
rs727502951
|
0.00001
|
|
NM_001927.4(DES):c.1217G>A (p.Arg406Gln)
|
rs1057520275
|
0.00001
|
|
NM_001927.4(DES):c.1250A>G (p.Asn417Ser)
|
rs376141178
|
0.00001
|
|
NM_001927.4(DES):c.1258A>C (p.Ile420Leu)
|
rs1427557970
|
0.00001
|
|
NM_001927.4(DES):c.1300G>A (p.Glu434Lys)
|
rs952020807
|
0.00001
|
|
NM_001927.4(DES):c.1333A>G (p.Thr445Ala)
|
rs267607498
|
0.00001
|
|
NM_001927.4(DES):c.1361G>A (p.Arg454Gln)
|
rs541585670
|
0.00001
|
|
NM_001927.4(DES):c.1404A>C (p.Glu468Asp)
|
rs397516691
|
0.00001
|
|
NM_001927.4(DES):c.146T>C (p.Val49Ala)
|
rs794728989
|
0.00001
|
|
NM_001927.4(DES):c.155G>C (p.Arg52Pro)
|
rs1372689272
|
0.00001
|
|
NM_001927.4(DES):c.209G>C (p.Arg70Pro)
|
rs933438188
|
0.00001
|
|
NM_001927.4(DES):c.218G>A (p.Arg73Gln)
|
rs752518966
|
0.00001
|
|
NM_001927.4(DES):c.280G>A (p.Ala94Thr)
|
rs1163703259
|
0.00001
|
|
NM_001927.4(DES):c.286G>T (p.Ala96Ser)
|
rs201190593
|
0.00001
|
|
NM_001927.4(DES):c.28C>T (p.Arg10Cys)
|
rs1196125127
|
0.00001
|
|
NM_001927.4(DES):c.298G>A (p.Glu100Lys)
|
rs1434605523
|
0.00001
|
|
NM_001927.4(DES):c.29G>A (p.Arg10His)
|
rs757839952
|
0.00001
|
|
NM_001927.4(DES):c.313C>T (p.Arg105Cys)
|
rs794728993
|
0.00001
|
|
NM_001927.4(DES):c.328G>C (p.Val110Leu)
|
rs373081285
|
0.00001
|
|
NM_001927.4(DES):c.371A>G (p.Glu124Gly)
|
rs564121737
|
0.00001
|
|
NM_001927.4(DES):c.469G>A (p.Glu157Lys)
|
rs1265299630
|
0.00001
|
|
NM_001927.4(DES):c.488G>C (p.Arg163Pro)
|
rs1457012198
|
0.00001
|
|
NM_001927.4(DES):c.49A>T (p.Thr17Ser)
|
rs1342928312
|
0.00001
|
|
NM_001927.4(DES):c.517C>A (p.Arg173Ser)
|
rs752944882
|
0.00001
|
|
NM_001927.4(DES):c.524G>A (p.Arg175His)
|
rs878854472
|
0.00001
|
|
NM_001927.4(DES):c.545A>C (p.Asn182Thr)
|
rs1358211194
|
0.00001
|
|
NM_001927.4(DES):c.560T>G (p.Leu187Arg)
|
rs1248833348
|
0.00001
|
|
NM_001927.4(DES):c.565C>T (p.Arg189Trp)
|
rs1223277151
|
0.00001
|
|
NM_001927.4(DES):c.58G>A (p.Gly20Arg)
|
rs759306707
|
0.00001
|
|
NM_001927.4(DES):c.593T>C (p.Ile198Thr)
|
rs773271116
|
0.00001
|
|
NM_001927.4(DES):c.603G>C (p.Lys201Asn)
|
rs765376573
|
0.00001
|
|
NM_001927.4(DES):c.615G>C (p.Glu205Asp)
|
rs1295010624
|
0.00001
|
|
NM_001927.4(DES):c.65C>G (p.Pro22Arg)
|
rs748158450
|
0.00001
|
|
NM_001927.4(DES):c.664C>T (p.Arg222Cys)
|
rs374687448
|
0.00001
|
|
NM_001927.4(DES):c.66G>A (p.Pro22=)
|
rs767502653
|
0.00001
|
|
NM_001927.4(DES):c.679C>T (p.Arg227Cys)
|
rs767743962
|
0.00001
|
|
NM_001927.4(DES):c.694C>T (p.Leu232Phe)
|
rs764764823
|
0.00001
|
|
NM_001927.4(DES):c.710C>T (p.Ala237Val)
|
rs374144840
|
0.00001
|
|
NM_001927.4(DES):c.727C>T (p.His243Tyr)
|
rs769647148
|
0.00001
|
|
NM_001927.4(DES):c.746A>C (p.Glu249Ala)
|
rs1256488465
|
0.00001
|
|
NM_001927.4(DES):c.794T>C (p.Met265Thr)
|
rs1457398926
|
0.00001
|
|
NM_001927.4(DES):c.797C>T (p.Ser266Phe)
|
rs1316058461
|
0.00001
|
|
NM_001927.4(DES):c.79G>A (p.Gly27Ser)
|
rs727504877
|
0.00001
|
|
NM_001927.4(DES):c.817G>A (p.Ala273Thr)
|
rs770258461
|
0.00001
|
|
NM_001927.4(DES):c.853G>A (p.Ala285Thr)
|
rs876657771
|
0.00001
|
|
NM_001927.4(DES):c.883T>G (p.Trp295Gly)
|
rs794728986
|
0.00001
|
|
NM_001927.4(DES):c.897+4G>A
|
rs1329171337
|
0.00001
|
|
NM_001927.4(DES):c.943C>T (p.Arg315Cys)
|
rs748742357
|
0.00001
|
|
NM_001927.4(DES):c.974G>A (p.Arg325Gln)
|
rs766035912
|
0.00001
|
|
NM_001943.5(DSG2):c.1000G>A (p.Val334Met)
|
rs761360851
|
0.00001
|
|
NM_001943.5(DSG2):c.1013A>T (p.Lys338Met)
|
rs1454000095
|
0.00001
|
|
NM_001943.5(DSG2):c.1045G>A (p.Asp349Asn)
|
rs754281384
|
0.00001
|
|
NM_001943.5(DSG2):c.1072G>A (p.Ala358Thr)
|
rs758537946
|
0.00001
|
|
NM_001943.5(DSG2):c.1105A>G (p.Lys369Glu)
|
rs727505208
|
0.00001
|
|
NM_001943.5(DSG2):c.1106A>T (p.Lys369Met)
|
rs375740419
|
0.00001
|
|
NM_001943.5(DSG2):c.1109C>G (p.Pro370Arg)
|
rs1555627121
|
0.00001
|
|
NM_001943.5(DSG2):c.1163T>G (p.Phe388Cys)
|
rs369214871
|
0.00001
|
|
NM_001943.5(DSG2):c.1281A>T (p.Arg427Ser)
|
rs370547219
|
0.00001
|
|
NM_001943.5(DSG2):c.128A>G (p.His43Arg)
|
rs370922106
|
0.00001
|
|
NM_001943.5(DSG2):c.1292T>C (p.Leu431Ser)
|
rs540113579
|
0.00001
|
|
NM_001943.5(DSG2):c.1304A>G (p.Asp435Gly)
|
rs767684377
|
0.00001
|
|
NM_001943.5(DSG2):c.1308T>A (p.Asn436Lys)
|
rs1163162410
|
0.00001
|
|
NM_001943.5(DSG2):c.1439C>T (p.Thr480Ile)
|
rs1598819592
|
0.00001
|
|
NM_001943.5(DSG2):c.1441A>G (p.Ile481Val)
|
rs368419383
|
0.00001
|
|
NM_001943.5(DSG2):c.145C>T (p.Arg49Cys)
|
rs762526848
|
0.00001
|
|
NM_001943.5(DSG2):c.1460T>G (p.Ile487Ser)
|
rs776525113
|
0.00001
|
|
NM_001943.5(DSG2):c.1466T>C (p.Val489Ala)
|
rs748619993
|
0.00001
|
|
NM_001943.5(DSG2):c.1484A>G (p.Asn495Ser)
|
rs1343972091
|
0.00001
|
|
NM_001943.5(DSG2):c.1489C>A (p.Pro497Thr)
|
rs1293179210
|
0.00001
|
|
NM_001943.5(DSG2):c.1499T>C (p.Ile500Thr)
|
rs769741655
|
0.00001
|
|
NM_001943.5(DSG2):c.1520G>A (p.Cys507Tyr)
|
rs121913009
|
0.00001
|
|
NM_001943.5(DSG2):c.1525G>A (p.Asp509Asn)
|
rs753406968
|
0.00001
|
|
NM_001943.5(DSG2):c.1537G>A (p.Val513Met)
|
rs1325342385
|
0.00001
|
|
NM_001943.5(DSG2):c.1562A>G (p.Asp521Gly)
|
rs730880077
|
0.00001
|
|
NM_001943.5(DSG2):c.1592T>G (p.Phe531Cys)
|
rs200484060
|
0.00001
|
|
NM_001943.5(DSG2):c.160G>A (p.Ala54Thr)
|
rs549421694
|
0.00001
|
|
NM_001943.5(DSG2):c.1612C>T (p.Pro538Ser)
|
rs766053352
|
0.00001
|
|
NM_001943.5(DSG2):c.1622C>G (p.Ala541Gly)
|
rs764745535
|
0.00001
|
|
NM_001943.5(DSG2):c.1624G>C (p.Glu542Gln)
|
rs376784940
|
0.00001
|
|
NM_001943.5(DSG2):c.1633A>C (p.Lys545Gln)
|
rs544175105
|
0.00001
|
|
NM_001943.5(DSG2):c.164C>T (p.Pro55Leu)
|
rs748684045
|
0.00001
|
|
NM_001943.5(DSG2):c.1652-5T>A
|
rs750711733
|
0.00001
|
|
NM_001943.5(DSG2):c.1754T>G (p.Val585Gly)
|
rs1226887053
|
0.00001
|
|
NM_001943.5(DSG2):c.176G>A (p.Arg59Gln)
|
rs768794560
|
0.00001
|
|
NM_001943.5(DSG2):c.1784A>G (p.His595Arg)
|
rs371326860
|
0.00001
|
|
NM_001943.5(DSG2):c.1814A>T (p.Asp605Val)
|
rs761157959
|
0.00001
|
|
NM_001943.5(DSG2):c.1826G>T (p.Gly609Val)
|
rs754168863
|
0.00001
|
|
NM_001943.5(DSG2):c.1829T>C (p.Leu610Pro)
|
rs755196345
|
0.00001
|
|
NM_001943.5(DSG2):c.1831G>A (p.Gly611Arg)
|
rs779056577
|
0.00001
|
|
NM_001943.5(DSG2):c.1843A>G (p.Ile615Val)
|
rs794728087
|
0.00001
|
|
NM_001943.5(DSG2):c.1880-3C>T
|
rs2073264462
|
0.00001
|
|
NM_001943.5(DSG2):c.1921G>A (p.Ala641Thr)
|
rs1445203397
|
0.00001
|
|
NM_001943.5(DSG2):c.1957A>T (p.Met653Leu)
|
rs1382682032
|
0.00001
|
|
NM_001943.5(DSG2):c.1996G>C (p.Asp666His)
|
rs771623047
|
0.00001
|
|
NM_001943.5(DSG2):c.2001+3C>G
|
rs746471051
|
0.00001
|
|
NM_001943.5(DSG2):c.2068A>G (p.Met690Val)
|
rs1453554024
|
0.00001
|
|
NM_001943.5(DSG2):c.2074A>G (p.Lys692Glu)
|
rs997161591
|
0.00001
|
|
NM_001943.5(DSG2):c.2110A>G (p.Ile704Val)
|
rs141388237
|
0.00001
|
|
NM_001943.5(DSG2):c.2111T>C (p.Ile704Thr)
|
rs759420598
|
0.00001
|
|
NM_001943.5(DSG2):c.2203G>A (p.Ala735Thr)
|
rs1179912383
|
0.00001
|
|
NM_001943.5(DSG2):c.2215A>G (p.Ile739Val)
|
rs772240008
|
0.00001
|
|
NM_001943.5(DSG2):c.2252C>T (p.Thr751Ile)
|
rs727502989
|
0.00001
|
|
NM_001943.5(DSG2):c.233C>A (p.Ala78Glu)
|
rs769649528
|
0.00001
|
|
NM_001943.5(DSG2):c.2399C>G (p.Ser800Cys)
|
rs794728090
|
0.00001
|
|
NM_001943.5(DSG2):c.2420T>C (p.Leu807Pro)
|
rs1384172051
|
0.00001
|
|
NM_001943.5(DSG2):c.2491C>T (p.Leu831Phe)
|
rs763547599
|
0.00001
|
|
NM_001943.5(DSG2):c.2498T>G (p.Phe833Cys)
|
rs2073302543
|
0.00001
|
|
NM_001943.5(DSG2):c.2525G>A (p.Gly842Asp)
|
rs374177723
|
0.00001
|
|
NM_001943.5(DSG2):c.2534T>C (p.Ile845Thr)
|
rs1303479214
|
0.00001
|
|
NM_001943.5(DSG2):c.2558A>G (p.Gln853Arg)
|
rs1567934468
|
0.00001
|
|
NM_001943.5(DSG2):c.2589G>A (p.Met863Ile)
|
rs375955157
|
0.00001
|
|
NM_001943.5(DSG2):c.2614G>C (p.Glu872Gln)
|
rs754057911
|
0.00001
|
|
NM_001943.5(DSG2):c.2642C>T (p.Thr881Ile)
|
rs760786694
|
0.00001
|
|
NM_001943.5(DSG2):c.2648C>T (p.Ser883Phe)
|
rs371498622
|
0.00001
|
|
NM_001943.5(DSG2):c.2681T>G (p.Leu894Trp)
|
rs759746836
|
0.00001
|
|
NM_001943.5(DSG2):c.2690C>A (p.Ala897Asp)
|
rs765238150
|
0.00001
|
|
NM_001943.5(DSG2):c.2710C>G (p.Gln904Glu)
|
rs372335085
|
0.00001
|
|
NM_001943.5(DSG2):c.2713G>A (p.Glu905Lys)
|
rs1156468696
|
0.00001
|
|
NM_001943.5(DSG2):c.2716A>G (p.Ile906Val)
|
rs748894535
|
0.00001
|
|
NM_001943.5(DSG2):c.2729G>T (p.Arg910Ile)
|
rs778488673
|
0.00001
|
|
NM_001943.5(DSG2):c.2741C>G (p.Ser914Cys)
|
rs771214695
|
0.00001
|
|
NM_001943.5(DSG2):c.2753A>G (p.Gln918Arg)
|
rs1367277603
|
0.00001
|
|
NM_001943.5(DSG2):c.2768C>G (p.Pro923Arg)
|
rs1408093009
|
0.00001
|
|
NM_001943.5(DSG2):c.2797G>A (p.Val933Met)
|
rs373055076
|
0.00001
|
|
NM_001943.5(DSG2):c.2807C>T (p.Thr936Ile)
|
rs1221413592
|
0.00001
|
|
NM_001943.5(DSG2):c.2813C>A (p.Thr938Asn)
|
rs919875624
|
0.00001
|
|
NM_001943.5(DSG2):c.287A>T (p.Glu96Val)
|
rs2073123571
|
0.00001
|
|
NM_001943.5(DSG2):c.2908C>T (p.Pro970Ser)
|
rs758058872
|
0.00001
|
|
NM_001943.5(DSG2):c.2953G>A (p.Val985Ile)
|
rs749540432
|
0.00001
|
|
NM_001943.5(DSG2):c.296T>A (p.Phe99Tyr)
|
rs1275376903
|
0.00001
|
|
NM_001943.5(DSG2):c.2987G>A (p.Gly996Glu)
|
rs1567934945
|
0.00001
|
|
NM_001943.5(DSG2):c.298G>C (p.Gly100Arg)
|
rs754405184
|
0.00001
|
|
NM_001943.5(DSG2):c.3013A>G (p.Thr1005Ala)
|
rs1386679487
|
0.00001
|
|
NM_001943.5(DSG2):c.3044T>C (p.Met1015Thr)
|
rs886053716
|
0.00001
|
|
NM_001943.5(DSG2):c.3086T>C (p.Val1029Ala)
|
rs769806198
|
0.00001
|
|
NM_001943.5(DSG2):c.308T>C (p.Val103Ala)
|
rs876657790
|
0.00001
|
|
NM_001943.5(DSG2):c.3101C>T (p.Ala1034Val)
|
rs762885186
|
0.00001
|
|
NM_001943.5(DSG2):c.3137T>C (p.Val1046Ala)
|
rs2073312094
|
0.00001
|
|
NM_001943.5(DSG2):c.3205A>G (p.Met1069Val)
|
rs1024370144
|
0.00001
|
|
NM_001943.5(DSG2):c.3224C>T (p.Thr1075Met)
|
rs943749481
|
0.00001
|
|
NM_001943.5(DSG2):c.3340C>G (p.Gln1114Glu)
|
rs776078563
|
0.00001
|
|
NM_001943.5(DSG2):c.391G>A (p.Ala131Thr)
|
rs373542380
|
0.00001
|
|
NM_001943.5(DSG2):c.445G>A (p.Val149Ile)
|
rs372606274
|
0.00001
|
|
NM_001943.5(DSG2):c.458A>G (p.Asn153Ser)
|
rs375597675
|
0.00001
|
|
NM_001943.5(DSG2):c.46-3C>T
|
rs777302616
|
0.00001
|
|
NM_001943.5(DSG2):c.466G>A (p.Glu156Lys)
|
rs566251077
|
0.00001
|
|
NM_001943.5(DSG2):c.46A>G (p.Ile16Val)
|
rs376660601
|
0.00001
|
|
NM_001943.5(DSG2):c.470C>T (p.Pro157Leu)
|
rs587782938
|
0.00001
|
|
NM_001943.5(DSG2):c.536T>C (p.Met179Thr)
|
rs753854046
|
0.00001
|
|
NM_001943.5(DSG2):c.562G>A (p.Glu188Lys)
|
rs763948986
|
0.00001
|
|
NM_001943.5(DSG2):c.581C>T (p.Ser194Leu)
|
rs374875442
|
0.00001
|
|
NM_001943.5(DSG2):c.58G>A (p.Val20Ile)
|
rs746192055
|
0.00001
|
|
NM_001943.5(DSG2):c.613C>T (p.Pro205Ser)
|
rs200946320
|
0.00001
|
|
NM_001943.5(DSG2):c.653G>A (p.Gly218Glu)
|
rs794728082
|
0.00001
|
|
NM_001943.5(DSG2):c.677C>T (p.Thr226Ile)
|
rs751490881
|
0.00001
|
|
NM_001943.5(DSG2):c.690G>A (p.Glu230=)
|
rs767433640
|
0.00001
|
|
NM_001943.5(DSG2):c.713C>T (p.Thr238Ile)
|
rs767523704
|
0.00001
|
|
NM_001943.5(DSG2):c.770A>G (p.Gln257Arg)
|
rs765118809
|
0.00001
|
|
NM_001943.5(DSG2):c.782G>A (p.Arg261His)
|
rs727502984
|
0.00001
|
|
NM_001943.5(DSG2):c.792T>A (p.Asp264Glu)
|
rs869025388
|
0.00001
|
|
NM_001943.5(DSG2):c.82-3T>C
|
rs370099811
|
0.00001
|
|
NM_001943.5(DSG2):c.828+5C>T
|
rs373286117
|
0.00001
|
|
NM_001943.5(DSG2):c.872C>T (p.Thr291Met)
|
rs774563205
|
0.00001
|
|
NM_001943.5(DSG2):c.874C>T (p.Arg292Cys)
|
rs770921270
|
0.00001
|
|
NM_001943.5(DSG2):c.880A>G (p.Lys294Glu)
|
rs752432726
|
0.00001
|
|
NM_001943.5(DSG2):c.884T>C (p.Val295Ala)
|
rs762588785
|
0.00001
|
|
NM_001943.5(DSG2):c.889G>A (p.Asp297Asn)
|
rs751012696
|
0.00001
|
|
NM_001943.5(DSG2):c.902T>C (p.Ile301Thr)
|
rs1370553229
|
0.00001
|
|
NM_001943.5(DSG2):c.908C>T (p.Ser303Phe)
|
rs757792714
|
0.00001
|
|
NM_001943.5(DSG2):c.998T>C (p.Ile333Thr)
|
rs773871942
|
0.00001
|
|
NM_001985.3(ETFB):c.113T>C (p.Met38Thr)
|
rs775541180
|
0.00001
|
|
NM_001985.3(ETFB):c.293G>A (p.Arg98His)
|
rs761063406
|
0.00001
|
|
NM_001985.3(ETFB):c.438+5G>T
|
rs1450691951
|
0.00001
|
|
NM_001985.3(ETFB):c.571C>T (p.Arg191Cys)
|
rs772976948
|
0.00001
|
|
NM_001985.3(ETFB):c.572G>A (p.Arg191His)
|
rs769951998
|
0.00001
|
|
NM_001985.3(ETFB):c.597+6C>T
|
rs539989327
|
0.00001
|
|
NM_001985.3(ETFB):c.645dup (p.Val216fs)
|
rs1428088327
|
0.00001
|
|
NM_001985.3(ETFB):c.92C>T (p.Thr31Met)
|
rs371751519
|
0.00001
|
|
NM_002230.4(JUP):c.100G>A (p.Val34Met)
|
rs794729029
|
0.00001
|
|
NM_002230.4(JUP):c.1069C>G (p.Leu357Val)
|
rs1455055075
|
0.00001
|
|
NM_002230.4(JUP):c.107C>T (p.Ser36Phe)
|
rs1555607036
|
0.00001
|
|
NM_002230.4(JUP):c.1096C>A (p.Pro366Thr)
|
rs782690097
|
0.00001
|
|
NM_002230.4(JUP):c.1096C>G (p.Pro366Ala)
|
rs782690097
|
0.00001
|
|
NM_002230.4(JUP):c.1100G>T (p.Arg367Leu)
|
rs782067441
|
0.00001
|
|
NM_002230.4(JUP):c.1129C>A (p.Arg377Ser)
|
rs368564000
|
0.00001
|
|
NM_002230.4(JUP):c.1158+2_1158+4dup
|
rs782280458
|
0.00001
|
|
NM_002230.4(JUP):c.1204G>A (p.Val402Met)
|
rs782241125
|
0.00001
|
|
NM_002230.4(JUP):c.1213G>A (p.Val405Ile)
|
rs200019016
|
0.00001
|
|
NM_002230.4(JUP):c.1236G>A (p.Thr412=)
|
rs376391674
|
0.00001
|
|
NM_002230.4(JUP):c.1262A>G (p.Asn421Ser)
|
rs782135453
|
0.00001
|
|
NM_002230.4(JUP):c.1300G>A (p.Gly434Ser)
|
rs1555602250
|
0.00001
|
|
NM_002230.4(JUP):c.1308G>T (p.Glu436Asp)
|
rs782594495
|
0.00001
|
|
NM_002230.4(JUP):c.1330C>T (p.Arg444Cys)
|
rs781793865
|
0.00001
|
|
NM_002230.4(JUP):c.1333G>C (p.Ala445Pro)
|
rs782465430
|
0.00001
|
|
NM_002230.4(JUP):c.1336G>T (p.Gly446Cys)
|
rs781876461
|
0.00001
|
|
NM_002230.4(JUP):c.1355C>T (p.Thr452Met)
|
rs781888888
|
0.00001
|
|
NM_002230.4(JUP):c.136G>A (p.Asp46Asn)
|
rs782308879
|
0.00001
|
|
NM_002230.4(JUP):c.1378C>T (p.Arg460Cys)
|
rs782575391
|
0.00001
|
|
NM_002230.4(JUP):c.1391G>A (p.Ser464Asn)
|
rs1060502681
|
0.00001
|
|
NM_002230.4(JUP):c.1394G>A (p.Arg465His)
|
rs369486398
|
0.00001
|
|
NM_002230.4(JUP):c.1400C>T (p.Pro467Leu)
|
rs782667501
|
0.00001
|
|
NM_002230.4(JUP):c.151C>T (p.Arg51Cys)
|
rs782254006
|
0.00001
|
|
NM_002230.4(JUP):c.152G>A (p.Arg51His)
|
rs571707598
|
0.00001
|
|
NM_002230.4(JUP):c.1555C>G (p.Gln519Glu)
|
rs139454583
|
0.00001
|
|
NM_002230.4(JUP):c.1576C>T (p.Arg526Cys)
|
rs782309611
|
0.00001
|
|
NM_002230.4(JUP):c.1586A>T (p.Gln529Leu)
|
rs1914310860
|
0.00001
|
|
NM_002230.4(JUP):c.1606C>G (p.Gln536Glu)
|
rs782683108
|
0.00001
|
|
NM_002230.4(JUP):c.160A>G (p.Thr54Ala)
|
rs781784933
|
0.00001
|
|
NM_002230.4(JUP):c.1619G>T (p.Arg540Leu)
|
rs376881608
|
0.00001
|
|
NM_002230.4(JUP):c.1624G>A (p.Val542Ile)
|
rs571375136
|
0.00001
|
|
NM_002230.4(JUP):c.1631C>T (p.Ala544Val)
|
rs782762751
|
0.00001
|
|
NM_002230.4(JUP):c.1652C>T (p.Thr551Met)
|
rs1038719021
|
0.00001
|
|
NM_002230.4(JUP):c.1667T>C (p.Met556Thr)
|
rs781884735
|
0.00001
|
|
NM_002230.4(JUP):c.1730G>A (p.Arg577His)
|
rs373434456
|
0.00001
|
|
NM_002230.4(JUP):c.1744C>T (p.Arg582Trp)
|
rs782205755
|
0.00001
|
|
NM_002230.4(JUP):c.1760C>T (p.Pro587Leu)
|
rs782490959
|
0.00001
|
|
NM_002230.4(JUP):c.1780T>A (p.Tyr594Asn)
|
rs1555599033
|
0.00001
|
|
NM_002230.4(JUP):c.1787C>T (p.Ser596Leu)
|
rs940226194
|
0.00001
|
|
NM_002230.4(JUP):c.1805G>A (p.Arg602His)
|
rs909955430
|
0.00001
|
|
NM_002230.4(JUP):c.1868C>G (p.Ala623Gly)
|
rs782760341
|
0.00001
|
|
NM_002230.4(JUP):c.1873G>C (p.Gly625Arg)
|
rs1060502678
|
0.00001
|
|
NM_002230.4(JUP):c.1876G>A (p.Ala626Thr)
|
rs782547688
|
0.00001
|
|
NM_002230.4(JUP):c.1883C>T (p.Ala628Val)
|
rs1475273502
|
0.00001
|
|
NM_002230.4(JUP):c.1885C>T (p.Pro629Ser)
|
rs1188860546
|
0.00001
|
|
NM_002230.4(JUP):c.1916A>G (p.Glu639Gly)
|
rs1914057795
|
0.00001
|
|
NM_002230.4(JUP):c.1920C>T (p.Gly640=)
|
rs376699725
|
0.00001
|
|
NM_002230.4(JUP):c.1990G>A (p.Val664Met)
|
rs782695128
|
0.00001
|
|
NM_002230.4(JUP):c.200C>T (p.Pro67Leu)
|
rs1427489722
|
0.00001
|
|
NM_002230.4(JUP):c.2060T>C (p.Ile687Thr)
|
rs1181838480
|
0.00001
|
|
NM_002230.4(JUP):c.2078A>G (p.Tyr693Cys)
|
rs782475413
|
0.00001
|
|
NM_002230.4(JUP):c.2084A>G (p.Asp695Gly)
|
rs781859850
|
0.00001
|
|
NM_002230.4(JUP):c.2099C>T (p.Thr700Ile)
|
rs1913627808
|
0.00001
|
|
NM_002230.4(JUP):c.211G>T (p.Asp71Tyr)
|
rs781869872
|
0.00001
|
|
NM_002230.4(JUP):c.2132T>C (p.Leu711Pro)
|
rs782096012
|
0.00001
|
|
NM_002230.4(JUP):c.2149C>G (p.His717Asp)
|
rs1347008405
|
0.00001
|
|
NM_002230.4(JUP):c.2179G>A (p.Asp727Asn)
|
rs1285789744
|
0.00001
|
|
NM_002230.4(JUP):c.21G>C (p.Met7Ile)
|
rs782076076
|
0.00001
|
|
NM_002230.4(JUP):c.250C>T (p.Arg84Trp)
|
rs782306414
|
0.00001
|
|
NM_002230.4(JUP):c.251G>A (p.Arg84Gln)
|
rs782061304
|
0.00001
|
|
NM_002230.4(JUP):c.256C>T (p.Arg86Trp)
|
rs782240305
|
0.00001
|
|
NM_002230.4(JUP):c.266T>C (p.Met89Thr)
|
rs542745694
|
0.00001
|
|
NM_002230.4(JUP):c.285C>T (p.Gly95=)
|
rs1555605900
|
0.00001
|
|
NM_002230.4(JUP):c.296C>T (p.Ser99Leu)
|
rs554046226
|
0.00001
|
|
NM_002230.4(JUP):c.311C>A (p.Thr104Asn)
|
rs1185864978
|
0.00001
|
|
NM_002230.4(JUP):c.315G>C (p.Gln105His)
|
rs375489362
|
0.00001
|
|
NM_002230.4(JUP):c.335A>G (p.Asn112Ser)
|
rs372364561
|
0.00001
|
|
NM_002230.4(JUP):c.344G>A (p.Arg115Gln)
|
rs369722007
|
0.00001
|
|
NM_002230.4(JUP):c.374C>T (p.Ser125Leu)
|
rs782527770
|
0.00001
|
|
NM_002230.4(JUP):c.406G>A (p.Asp136Asn)
|
rs782392706
|
0.00001
|
|
NM_002230.4(JUP):c.424C>T (p.Arg142Cys)
|
rs199591001
|
0.00001
|
|
NM_002230.4(JUP):c.485C>T (p.Ala162Val)
|
rs369121094
|
0.00001
|
|
NM_002230.4(JUP):c.494T>C (p.Ile165Thr)
|
rs1254146503
|
0.00001
|
|
NM_002230.4(JUP):c.562G>A (p.Ala188Thr)
|
rs782585387
|
0.00001
|
|
NM_002230.4(JUP):c.571C>T (p.Arg191Cys)
|
rs781905238
|
0.00001
|
|
NM_002230.4(JUP):c.592G>A (p.Asp198Asn)
|
rs782799529
|
0.00001
|
|
NM_002230.4(JUP):c.601A>G (p.Thr201Ala)
|
rs781999758
|
0.00001
|
|
NM_002230.4(JUP):c.628C>T (p.His210Tyr)
|
rs1567818128
|
0.00001
|
|
NM_002230.4(JUP):c.647G>A (p.Arg216Gln)
|
rs782498980
|
0.00001
|
|
NM_002230.4(JUP):c.661G>A (p.Ala221Thr)
|
rs782076415
|
0.00001
|
|
NM_002230.4(JUP):c.674C>T (p.Ser225Leu)
|
rs782685734
|
0.00001
|
|
NM_002230.4(JUP):c.680G>A (p.Gly227Asp)
|
rs782010606
|
0.00001
|
|
NM_002230.4(JUP):c.697C>T (p.Arg233Cys)
|
rs529126058
|
0.00001
|
|
NM_002230.4(JUP):c.698G>A (p.Arg233His)
|
rs1304500107
|
0.00001
|
|
NM_002230.4(JUP):c.707+5C>A
|
rs375580484
|
0.00001
|
|
NM_002230.4(JUP):c.71C>T (p.Ser24Leu)
|
rs782460555
|
0.00001
|
|
NM_002230.4(JUP):c.764T>G (p.Leu255Arg)
|
rs878854482
|
0.00001
|
|
NM_002230.4(JUP):c.782A>G (p.Lys261Arg)
|
rs782527507
|
0.00001
|
|
NM_002230.4(JUP):c.788C>T (p.Ala263Val)
|
rs1287470595
|
0.00001
|
|
NM_002230.4(JUP):c.794G>A (p.Arg265His)
|
rs782440692
|
0.00001
|
|
NM_002230.4(JUP):c.818T>C (p.Met273Thr)
|
rs782091454
|
0.00001
|
|
NM_002230.4(JUP):c.849G>T (p.Lys283Asn)
|
rs794729054
|
0.00001
|
|
NM_002230.4(JUP):c.868G>A (p.Asp290Asn)
|
rs982161216
|
0.00001
|
|
NM_002230.4(JUP):c.884T>C (p.Leu295Pro)
|
rs1567815863
|
0.00001
|
|
NM_002230.4(JUP):c.88G>A (p.Ala30Thr)
|
rs782733459
|
0.00001
|
|
NM_002230.4(JUP):c.928G>A (p.Gly310Ser)
|
rs1597808505
|
0.00001
|
|
NM_002230.4(JUP):c.946G>A (p.Val316Met)
|
rs782285849
|
0.00001
|
|
NM_002230.4(JUP):c.950A>T (p.Gln317Leu)
|
rs782509792
|
0.00001
|
|
NM_002230.4(JUP):c.967A>G (p.Ser323Gly)
|
rs781857323
|
0.00001
|
|
NM_002230.4(JUP):c.997C>T (p.Arg333Cys)
|
rs782031185
|
0.00001
|
|
NM_002471.4(MYH6):c.1000G>A (p.Asp334Asn)
|
rs572757741
|
0.00001
|
|
NM_002471.4(MYH6):c.101G>A (p.Arg34His)
|
rs762303505
|
0.00001
|
|
NM_002471.4(MYH6):c.1072A>G (p.Met358Val)
|
rs781278134
|
0.00001
|
|
NM_002471.4(MYH6):c.1109G>A (p.Arg370Gln)
|
rs141083503
|
0.00001
|
|
NM_002471.4(MYH6):c.1120G>T (p.Ala374Ser)
|
rs1891633873
|
0.00001
|
|
NM_002471.4(MYH6):c.1139A>C (p.Glu380Ala)
|
rs747070258
|
0.00001
|
|
NM_002471.4(MYH6):c.1258C>T (p.Gln420Ter)
|
rs773659892
|
0.00001
|
|
NM_002471.4(MYH6):c.1292C>T (p.Ala431Val)
|
rs1286482909
|
0.00001
|
|
NM_002471.4(MYH6):c.1373T>C (p.Ile458Thr)
|
rs774807696
|
0.00001
|
|
NM_002471.4(MYH6):c.1408G>T (p.Asp470Tyr)
|
rs777651128
|
0.00001
|
|
NM_002471.4(MYH6):c.1441T>A (p.Phe481Ile)
|
rs1332933521
|
0.00001
|
|
NM_002471.4(MYH6):c.1492G>A (p.Glu498Lys)
|
rs375142167
|
0.00001
|
|
NM_002471.4(MYH6):c.1523A>T (p.Glu508Val)
|
rs1017557276
|
0.00001
|
|
NM_002471.4(MYH6):c.1531T>C (p.Phe511Leu)
|
rs1319467982
|
0.00001
|
|
NM_002471.4(MYH6):c.1545C>T (p.Gly515=)
|
rs200235378
|
0.00001
|
|
NM_002471.4(MYH6):c.1726G>A (p.Ala576Thr)
|
rs1488705293
|
0.00001
|
|
NM_002471.4(MYH6):c.1750G>A (p.Ala584Thr)
|
rs138317414
|
0.00001
|
|
NM_002471.4(MYH6):c.1761G>A (p.Val587=)
|
rs772822133
|
0.00001
|
|
NM_002471.4(MYH6):c.1771A>G (p.Ile591Val)
|
rs1402004251
|
0.00001
|
|
NM_002471.4(MYH6):c.1791A>T (p.Lys597Asn)
|
rs1252826013
|
0.00001
|
|
NM_002471.4(MYH6):c.1816G>A (p.Val606Ile)
|
rs772688148
|
0.00001
|
|
NM_002471.4(MYH6):c.1819G>A (p.Val607Met)
|
rs1891508709
|
0.00001
|
|
NM_002471.4(MYH6):c.182C>T (p.Ala61Val)
|
rs730880148
|
0.00001
|
|
NM_002471.4(MYH6):c.1903A>G (p.Lys635Glu)
|
rs1566512077
|
0.00001
|
|
NM_002471.4(MYH6):c.1931C>T (p.Ser644Leu)
|
rs563533053
|
0.00001
|
|
NM_002471.4(MYH6):c.2008C>T (p.His670Tyr)
|
rs754199269
|
0.00001
|
|
NM_002471.4(MYH6):c.2044G>T (p.Ala682Ser)
|
rs927752391
|
0.00001
|
|
NM_002471.4(MYH6):c.2051-1G>A
|
rs773772551
|
0.00001
|
|
NM_002471.4(MYH6):c.2064C>A (p.Asn688Lys)
|
rs769708956
|
0.00001
|
|
NM_002471.4(MYH6):c.2086C>T (p.Arg696Cys)
|
rs778886029
|
0.00001
|
|
NM_002471.4(MYH6):c.2087G>A (p.Arg696His)
|
rs757728653
|
0.00001
|
|
NM_002471.4(MYH6):c.2098G>A (p.Val700Met)
|
rs767142932
|
0.00001
|
|
NM_002471.4(MYH6):c.2292+1G>A
|
rs771569935
|
0.00001
|
|
NM_002471.4(MYH6):c.2336G>A (p.Arg779Gln)
|
rs1486610243
|
0.00001
|
|
NM_002471.4(MYH6):c.2363C>T (p.Thr788Met)
|
rs746758304
|
0.00001
|
|
NM_002471.4(MYH6):c.2365C>T (p.Arg789Cys)
|
rs200925880
|
0.00001
|
|
NM_002471.4(MYH6):c.2367C>T (p.Arg789=)
|
rs1343754890
|
0.00001
|
|
NM_002471.4(MYH6):c.2397G>A (p.Met799Ile)
|
rs199993769
|
0.00001
|
|
NM_002471.4(MYH6):c.2398C>T (p.Arg800Cys)
|
rs763477425
|
0.00001
|
|
NM_002471.4(MYH6):c.2426G>A (p.Arg809His)
|
rs780036697
|
0.00001
|
|
NM_002471.4(MYH6):c.2462G>A (p.Arg821Gln)
|
rs1182211881
|
0.00001
|
|
NM_002471.4(MYH6):c.2576G>C (p.Gly859Ala)
|
rs779528748
|
0.00001
|
|
NM_002471.4(MYH6):c.259A>T (p.Ile87Phe)
|
rs1021271475
|
0.00001
|
|
NM_002471.4(MYH6):c.2684C>T (p.Ala895Val)
|
rs1372933415
|
0.00001
|
|
NM_002471.4(MYH6):c.269T>C (p.Met90Thr)
|
rs919307122
|
0.00001
|
|
NM_002471.4(MYH6):c.2742G>T (p.Lys914Asn)
|
rs1312659522
|
0.00001
|
|
NM_002471.4(MYH6):c.2771T>C (p.Met924Thr)
|
rs746669440
|
0.00001
|
|
NM_002471.4(MYH6):c.2785G>C (p.Glu929Gln)
|
rs1555333987
|
0.00001
|
|
NM_002471.4(MYH6):c.2828G>A (p.Arg943His)
|
rs766640013
|
0.00001
|
|
NM_002471.4(MYH6):c.2969T>A (p.Ile990Asn)
|
rs766362714
|
0.00001
|
|
NM_002471.4(MYH6):c.2980C>A (p.Leu994Met)
|
rs727503238
|
0.00001
|
|
NM_002471.4(MYH6):c.3088G>C (p.Glu1030Gln)
|
rs779155360
|
0.00001
|
|
NM_002471.4(MYH6):c.3140G>A (p.Arg1047His)
|
rs775843647
|
0.00001
|
|
NM_002471.4(MYH6):c.3155G>A (p.Arg1052Gln)
|
rs750020902
|
0.00001
|
|
NM_002471.4(MYH6):c.3163C>T (p.Arg1055Trp)
|
rs764909774
|
0.00001
|
|
NM_002471.4(MYH6):c.3241A>G (p.Lys1081Glu)
|
rs1158303073
|
0.00001
|
|
NM_002471.4(MYH6):c.3289G>A (p.Glu1097Lys)
|
rs150868324
|
0.00001
|
|
NM_002471.4(MYH6):c.328G>A (p.Ala110Thr)
|
rs397516760
|
0.00001
|
|
NM_002471.4(MYH6):c.3316C>A (p.Leu1106Ile)
|
rs1595055372
|
0.00001
|
|
NM_002471.4(MYH6):c.3385A>G (p.Thr1129Ala)
|
rs1398805546
|
0.00001
|
|
NM_002471.4(MYH6):c.3452G>A (p.Arg1151Gln)
|
rs745406670
|
0.00001
|
|
NM_002471.4(MYH6):c.345T>C (p.Tyr115=)
|
rs770221652
|
0.00001
|
|
NM_002471.4(MYH6):c.3506G>A (p.Arg1169His)
|
rs975923796
|
0.00001
|
|
NM_002471.4(MYH6):c.3530G>A (p.Arg1177Gln)
|
rs780211563
|
0.00001
|
|
NM_002471.4(MYH6):c.3532C>T (p.Arg1178Trp)
|
rs886039180
|
0.00001
|
|
NM_002471.4(MYH6):c.3533G>A (p.Arg1178Gln)
|
rs758572490
|
0.00001
|
|
NM_002471.4(MYH6):c.353C>T (p.Ser118Leu)
|
rs1322526035
|
0.00001
|
|
NM_002471.4(MYH6):c.3584G>A (p.Arg1195His)
|
rs747891865
|
0.00001
|
|
NM_002471.4(MYH6):c.35C>T (p.Ala12Val)
|
rs562487638
|
0.00001
|
|
NM_002471.4(MYH6):c.3625A>C (p.Ile1209Leu)
|
rs776607405
|
0.00001
|
|
NM_002471.4(MYH6):c.3658G>C (p.Glu1220Gln)
|
rs1180345753
|
0.00001
|
|
NM_002471.4(MYH6):c.3784C>T (p.Arg1262Cys)
|
rs397516763
|
0.00001
|
|
NM_002471.4(MYH6):c.3836G>A (p.Arg1279Gln)
|
rs200014711
|
0.00001
|
|
NM_002471.4(MYH6):c.3838G>A (p.Ala1280Thr)
|
rs762102758
|
0.00001
|
|
NM_002471.4(MYH6):c.3871C>T (p.Arg1291Trp)
|
rs1372245953
|
0.00001
|
|
NM_002471.4(MYH6):c.3902C>T (p.Ser1301Leu)
|
rs767570086
|
0.00001
|
|
NM_002471.4(MYH6):c.3978G>C (p.Lys1326Asn)
|
rs771913365
|
0.00001
|
|
NM_002471.4(MYH6):c.4033C>A (p.Leu1345Met)
|
rs1728919318
|
0.00001
|
|
NM_002471.4(MYH6):c.4048G>A (p.Glu1350Lys)
|
rs756392451
|
0.00001
|
|
NM_002471.4(MYH6):c.4150C>T (p.Arg1384Trp)
|
rs763926580
|
0.00001
|
|
NM_002471.4(MYH6):c.4162C>T (p.Leu1388Phe)
|
rs1566507274
|
0.00001
|
|
NM_002471.4(MYH6):c.4165G>A (p.Glu1389Lys)
|
rs397516768
|
0.00001
|
|
NM_002471.4(MYH6):c.4249G>C (p.Glu1417Gln)
|
rs1060501426
|
0.00001
|
|
NM_002471.4(MYH6):c.4267C>A (p.Leu1423Ile)
|
rs752785030
|
0.00001
|
|
NM_002471.4(MYH6):c.4292T>C (p.Met1431Thr)
|
rs146015292
|
0.00001
|
|
NM_002471.4(MYH6):c.4300G>A (p.Val1434Ile)
|
rs397516769
|
0.00001
|
|
NM_002471.4(MYH6):c.4307G>A (p.Arg1436His)
|
rs142556730
|
0.00001
|
|
NM_002471.4(MYH6):c.4345A>G (p.Arg1449Gly)
|
rs766943407
|
0.00001
|
|
NM_002471.4(MYH6):c.4349A>C (p.Asn1450Thr)
|
rs1005724382
|
0.00001
|
|
NM_002471.4(MYH6):c.4369G>A (p.Glu1457Lys)
|
rs267606905
|
0.00001
|
|
NM_002471.4(MYH6):c.4424A>G (p.Glu1475Gly)
|
rs749826475
|
0.00001
|
|
NM_002471.4(MYH6):c.4465G>A (p.Ala1489Thr)
|
rs761539900
|
0.00001
|
|
NM_002471.4(MYH6):c.4471G>A (p.Glu1491Lys)
|
rs1314169075
|
0.00001
|
|
NM_002471.4(MYH6):c.4525G>T (p.Glu1509Ter)
|
rs200380187
|
0.00001
|
|
NM_002471.4(MYH6):c.4535C>T (p.Ser1512Leu)
|
rs763022972
|
0.00001
|
|
NM_002471.4(MYH6):c.4602G>C (p.Gln1534His)
|
rs199600772
|
0.00001
|
|
NM_002471.4(MYH6):c.4650+6G>A
|
rs754290268
|
0.00001
|
|
NM_002471.4(MYH6):c.4700T>G (p.Phe1567Cys)
|
rs750138024
|
0.00001
|
|
NM_002471.4(MYH6):c.4713G>T (p.Lys1571Asn)
|
rs730880151
|
0.00001
|
|
NM_002471.4(MYH6):c.4745A>G (p.Asp1582Gly)
|
rs748264121
|
0.00001
|
|
NM_002471.4(MYH6):c.4769G>A (p.Arg1590His)
|
rs377473560
|
0.00001
|
|
NM_002471.4(MYH6):c.4780C>T (p.Arg1594Trp)
|
rs545198745
|
0.00001
|
|
NM_002471.4(MYH6):c.4781G>A (p.Arg1594Gln)
|
rs146095234
|
0.00001
|
|
NM_002471.4(MYH6):c.4798C>A (p.Gln1600Lys)
|
rs770068575
|
0.00001
|
|
NM_002471.4(MYH6):c.4823G>A (p.Arg1608His)
|
rs747494958
|
0.00001
|
|
NM_002471.4(MYH6):c.4834G>A (p.Glu1612Lys)
|
rs1417882969
|
0.00001
|
|
NM_002471.4(MYH6):c.4874A>G (p.Asn1625Ser)
|
rs776765616
|
0.00001
|
|
NM_002471.4(MYH6):c.4900G>A (p.Ala1634Thr)
|
rs369767936
|
0.00001
|
|
NM_002471.4(MYH6):c.4907G>A (p.Arg1636His)
|
rs746448302
|
0.00001
|
|
NM_002471.4(MYH6):c.493A>T (p.Met165Leu)
|
rs972242173
|
0.00001
|
|
NM_002471.4(MYH6):c.4949G>A (p.Ser1650Asn)
|
rs767073355
|
0.00001
|
|
NM_002471.4(MYH6):c.4960-3C>T
|
rs1469231532
|
0.00001
|
|
NM_002471.4(MYH6):c.4990C>T (p.Arg1664Cys)
|
rs780842934
|
0.00001
|
|
NM_002471.4(MYH6):c.5033G>A (p.Arg1678Gln)
|
rs141195890
|
0.00001
|
|
NM_002471.4(MYH6):c.5071C>T (p.Arg1691Cys)
|
rs745747137
|
0.00001
|
|
NM_002471.4(MYH6):c.5072G>A (p.Arg1691His)
|
rs727504502
|
0.00001
|
|
NM_002471.4(MYH6):c.5089A>G (p.Thr1697Ala)
|
rs727503233
|
0.00001
|
|
NM_002471.4(MYH6):c.5278G>A (p.Ala1760Thr)
|
rs146539406
|
0.00001
|
|
NM_002471.4(MYH6):c.5297T>C (p.Met1766Thr)
|
rs760667847
|
0.00001
|
|
NM_002471.4(MYH6):c.530C>T (p.Thr177Met)
|
rs1223199964
|
0.00001
|
|
NM_002471.4(MYH6):c.5336C>A (p.Ala1779Asp)
|
rs769271404
|
0.00001
|
|
NM_002471.4(MYH6):c.5389C>G (p.His1797Asp)
|
rs752680603
|
0.00001
|
|
NM_002471.4(MYH6):c.5459G>A (p.Arg1820Gln)
|
rs371222772
|
0.00001
|
|
NM_002471.4(MYH6):c.5481G>C (p.Glu1827Asp)
|
rs760865481
|
0.00001
|
|
NM_002471.4(MYH6):c.5539C>T (p.Arg1847Trp)
|
rs752718246
|
0.00001
|
|
NM_002471.4(MYH6):c.5540G>A (p.Arg1847Gln)
|
rs767679378
|
0.00001
|
|
NM_002471.4(MYH6):c.5542C>T (p.Arg1848Cys)
|
rs570853853
|
0.00001
|
|
NM_002471.4(MYH6):c.5645G>A (p.Arg1882His)
|
rs199755234
|
0.00001
|
|
NM_002471.4(MYH6):c.5653G>A (p.Glu1885Lys)
|
rs760353963
|
0.00001
|
|
NM_002471.4(MYH6):c.5732G>A (p.Arg1911Gln)
|
rs1463159568
|
0.00001
|
|
NM_002471.4(MYH6):c.5767C>T (p.Arg1923Ter)
|
rs765861895
|
0.00001
|
|
NM_002471.4(MYH6):c.5779C>T (p.Arg1927Cys)
|
rs1424944982
|
0.00001
|
|
NM_002471.4(MYH6):c.5796G>A (p.Lys1932=)
|
rs730880153
|
0.00001
|
|
NM_002471.4(MYH6):c.5797-2A>G
|
rs751748384
|
0.00001
|
|
NM_002471.4(MYH6):c.5804T>C (p.Met1935Thr)
|
rs377133201
|
0.00001
|
|
NM_002471.4(MYH6):c.5805G>T (p.Met1935Ile)
|
rs372265811
|
0.00001
|
|
NM_002471.4(MYH6):c.5809G>A (p.Asp1937Asn)
|
rs878854503
|
0.00001
|
|
NM_002471.4(MYH6):c.643-3T>C
|
rs113552091
|
0.00001
|
|
NM_002471.4(MYH6):c.68G>A (p.Arg23His)
|
rs771786844
|
0.00001
|
|
NM_002471.4(MYH6):c.71T>C (p.Leu24Pro)
|
rs1320990570
|
0.00001
|
|
NM_002471.4(MYH6):c.756C>G (p.His252Gln)
|
rs750341311
|
0.00001
|
|
NM_002471.4(MYH6):c.760G>A (p.Gly254Arg)
|
rs765016322
|
0.00001
|
|
NM_002471.4(MYH6):c.77C>G (p.Ala26Gly)
|
rs559973480
|
0.00001
|
|
NM_002471.4(MYH6):c.940G>A (p.Val314Met)
|
rs1260228019
|
0.00001
|
|
NM_002471.4(MYH6):c.993G>A (p.Met331Ile)
|
rs112677696
|
0.00001
|
|
NM_002633.3(PGM1):c.1102G>A (p.Ala368Thr)
|
rs748252747
|
0.00001
|
|
NM_002633.3(PGM1):c.1367G>T (p.Gly456Val)
|
rs777570538
|
0.00001
|
|
NM_002633.3(PGM1):c.1577C>G (p.Ala526Gly)
|
rs757573887
|
0.00001
|
|
NM_002633.3(PGM1):c.187G>T (p.Gly63Cys)
|
rs759782258
|
0.00001
|
|
NM_002633.3(PGM1):c.265G>A (p.Gly89Arg)
|
rs377500536
|
0.00001
|
|
NM_002633.3(PGM1):c.356A>G (p.Asn119Ser)
|
rs1213089649
|
0.00001
|
|
NM_002633.3(PGM1):c.425C>T (p.Ala142Val)
|
rs1276461747
|
0.00001
|
|
NM_002633.3(PGM1):c.76G>A (p.Val26Met)
|
rs1300863085
|
0.00001
|
|
NM_002633.3(PGM1):c.878G>A (p.Arg293Gln)
|
rs1466885233
|
0.00001
|
|
NM_002633.3(PGM1):c.985C>T (p.Arg329Cys)
|
rs778199808
|
0.00001
|
|
NM_002633.3(PGM1):c.986G>A (p.Arg329His)
|
rs747394265
|
0.00001
|
|
NM_002667.5(PLN):c.141C>G (p.Ile47Met)
|
rs552078051
|
0.00001
|
|
NM_002667.5(PLN):c.61C>A (p.Pro21Thr)
|
rs397516786
|
0.00001
|
|
NM_002667.5(PLN):c.74G>A (p.Arg25His)
|
rs1004405095
|
0.00001
|
|
NM_003140.3(SRY):c.251G>C (p.Arg84Thr)
|
rs770778716
|
0.00001
|
|
NM_003280.3(TNNC1):c.180G>A (p.Met60Ile)
|
rs1471808574
|
0.00001
|
|
NM_003280.3(TNNC1):c.202+5G>C
|
rs759472560
|
0.00001
|
|
NM_003280.3(TNNC1):c.208G>A (p.Gly70Ser)
|
rs772752716
|
0.00001
|
|
NM_003280.3(TNNC1):c.221T>G (p.Phe74Cys)
|
rs1318170964
|
0.00001
|
|
NM_003280.3(TNNC1):c.242T>C (p.Met81Thr)
|
rs771216638
|
0.00001
|
|
NM_003280.3(TNNC1):c.248G>A (p.Arg83Gln)
|
rs1362364913
|
0.00001
|
|
NM_003280.3(TNNC1):c.304C>T (p.Arg102Cys)
|
rs370103102
|
0.00001
|
|
NM_003280.3(TNNC1):c.305G>A (p.Arg102His)
|
rs143020831
|
0.00001
|
|
NM_003280.3(TNNC1):c.337G>A (p.Asp113Asn)
|
rs369639550
|
0.00001
|
|
NM_003280.3(TNNC1):c.356T>C (p.Ile119Thr)
|
rs200296115
|
0.00001
|
|
NM_003280.3(TNNC1):c.376G>A (p.Glu126Lys)
|
rs730881060
|
0.00001
|
|
NM_003280.3(TNNC1):c.386C>T (p.Thr129Met)
|
rs749367654
|
0.00001
|
|
NM_003280.3(TNNC1):c.397A>G (p.Ile133Val)
|
rs922957538
|
0.00001
|
|
NM_003280.3(TNNC1):c.402G>T (p.Glu134Asp)
|
rs397516847
|
0.00001
|
|
NM_003280.3(TNNC1):c.418G>A (p.Gly140Arg)
|
rs752100917
|
0.00001
|
|
NM_003280.3(TNNC1):c.419G>A (p.Gly140Glu)
|
rs764835690
|
0.00001
|
|
NM_003280.3(TNNC1):c.433G>A (p.Asp145Asn)
|
rs142759728
|
0.00001
|
|
NM_003280.3(TNNC1):c.436G>A (p.Gly146Ser)
|
rs567327895
|
0.00001
|
|
NM_003280.3(TNNC1):c.442A>G (p.Ile148Val)
|
rs397516848
|
0.00001
|
|
NM_003280.3(TNNC1):c.454+3A>G
|
rs777568062
|
0.00001
|
|
NM_003280.3(TNNC1):c.454+6C>G
|
rs750021293
|
0.00001
|
|
NM_003280.3(TNNC1):c.469A>C (p.Met157Leu)
|
rs730880230
|
0.00001
|
|
NM_003280.3(TNNC1):c.55+5G>A
|
rs1201786846
|
0.00001
|
|
NM_003280.3(TNNC1):c.86T>A (p.Leu29Gln)
|
rs267607123
|
0.00001
|
|
NM_003280.3(TNNC1):c.91G>A (p.Ala31Thr)
|
rs397514616
|
0.00001
|
|
NM_003319.4(TTN):c.16349dup (p.Phe5451fs)
|
rs752856716
|
0.00001
|
|
NM_003476.5(CSRP3):c.113T>C (p.Met38Thr)
|
rs796360127
|
0.00001
|
|
NM_003476.5(CSRP3):c.152C>A (p.Ala51Asp)
|
rs397516853
|
0.00001
|
|
NM_003476.5(CSRP3):c.168C>G (p.Ile56Met)
|
rs767360228
|
0.00001
|
|
NM_003476.5(CSRP3):c.197A>G (p.Tyr66Cys)
|
rs397516854
|
0.00001
|
|
NM_003476.5(CSRP3):c.206A>G (p.Lys69Arg)
|
rs137852764
|
0.00001
|
|
NM_003476.5(CSRP3):c.251C>T (p.Thr84Met)
|
rs777327517
|
0.00001
|
|
NM_003476.5(CSRP3):c.255C>T (p.Gly85=)
|
rs752338221
|
0.00001
|
|
NM_003476.5(CSRP3):c.283T>G (p.Ser95Ala)
|
rs1190724900
|
0.00001
|
|
NM_003476.5(CSRP3):c.284C>T (p.Ser95Phe)
|
rs767477787
|
0.00001
|
|
NM_003476.5(CSRP3):c.286C>T (p.Pro96Ser)
|
rs774530670
|
0.00001
|
|
NM_003476.5(CSRP3):c.293C>T (p.Pro98Leu)
|
rs773411006
|
0.00001
|
|
NM_003476.5(CSRP3):c.29G>A (p.Cys10Tyr)
|
rs141980088
|
0.00001
|
|
NM_003476.5(CSRP3):c.302C>T (p.Ser101Leu)
|
rs746707959
|
0.00001
|
|
NM_003476.5(CSRP3):c.367T>C (p.Cys123Arg)
|
rs1301857786
|
0.00001
|
|
NM_003476.5(CSRP3):c.409G>T (p.Gly137Cys)
|
rs771861706
|
0.00001
|
|
NM_003476.5(CSRP3):c.40G>C (p.Glu14Gln)
|
rs777883490
|
0.00001
|
|
NM_003476.5(CSRP3):c.445A>T (p.Ile149Phe)
|
rs1490491672
|
0.00001
|
|
NM_003476.5(CSRP3):c.472A>G (p.Asn158Asp)
|
rs1373333255
|
0.00001
|
|
NM_003476.5(CSRP3):c.508+2T>C
|
rs754267141
|
0.00001
|
|
NM_003476.5(CSRP3):c.52del (p.Tyr18fs)
|
rs759305806
|
0.00001
|
|
NM_003476.5(CSRP3):c.532C>T (p.Pro178Ser)
|
rs749002955
|
0.00001
|
|
NM_003476.5(CSRP3):c.537G>A (p.Thr179=)
|
rs886048096
|
0.00001
|
|
NM_003476.5(CSRP3):c.576G>C (p.Lys192Asn)
|
rs141100524
|
0.00001
|
|
NM_003476.5(CSRP3):c.86G>A (p.Ser29Asn)
|
rs372717179
|
0.00001
|
|
NM_003476.5(CSRP3):c.98C>T (p.Thr33Met)
|
rs758947977
|
0.00001
|
|
NM_003673.4(TCAP):c.110+10G>A
|
rs1259726775
|
0.00001
|
|
NM_003673.4(TCAP):c.145G>A (p.Glu49Lys)
|
rs45513698
|
0.00001
|
|
NM_003673.4(TCAP):c.170G>A (p.Cys57Tyr)
|
rs754762491
|
0.00001
|
|
NM_003673.4(TCAP):c.171C>G (p.Cys57Trp)
|
rs369447207
|
0.00001
|
|
NM_003673.4(TCAP):c.175G>A (p.Val59Met)
|
rs1064796829
|
0.00001
|
|
NM_003673.4(TCAP):c.194C>T (p.Pro65Leu)
|
rs2057250642
|
0.00001
|
|
NM_003673.4(TCAP):c.202A>T (p.Met68Leu)
|
rs770133993
|
0.00001
|
|
NM_003673.4(TCAP):c.227G>A (p.Arg76His)
|
rs752435787
|
0.00001
|
|
NM_003673.4(TCAP):c.260G>A (p.Arg87Gln)
|
rs121434298
|
0.00001
|
|
NM_003673.4(TCAP):c.262G>T (p.Val88Leu)
|
rs756715463
|
0.00001
|
|
NM_003673.4(TCAP):c.290C>T (p.Ala97Val)
|
rs774516749
|
0.00001
|
|
NM_003673.4(TCAP):c.334C>T (p.Gln112Ter)
|
rs794729175
|
0.00001
|
|
NM_003673.4(TCAP):c.37G>A (p.Glu13Lys)
|
rs1042724474
|
0.00001
|
|
NM_003673.4(TCAP):c.389G>A (p.Arg130His)
|
rs147503632
|
0.00001
|
|
NM_003673.4(TCAP):c.401C>A (p.Ala134Asp)
|
rs786205287
|
0.00001
|
|
NM_003673.4(TCAP):c.441C>T (p.Ser147=)
|
rs1380602024
|
0.00001
|
|
NM_003673.4(TCAP):c.473G>A (p.Arg158His)
|
rs397516864
|
0.00001
|
|
NM_003673.4(TCAP):c.496A>G (p.Arg166Gly)
|
rs1321654718
|
0.00001
|
|
NM_003673.4(TCAP):c.49C>T (p.Arg17Cys)
|
rs869025530
|
0.00001
|
|
NM_003673.4(TCAP):c.52C>T (p.Arg18Trp)
|
rs886038989
|
0.00001
|
|
NM_003673.4(TCAP):c.98G>A (p.Arg33Gln)
|
rs1085307822
|
0.00001
|
|
NM_003803.4(MYOM1):c.1009C>G (p.Leu337Val)
|
rs756839782
|
0.00001
|
|
NM_003803.4(MYOM1):c.1061C>T (p.Ala354Val)
|
rs1330141140
|
0.00001
|
|
NM_003803.4(MYOM1):c.1089A>G (p.Ala363=)
|
rs765138983
|
0.00001
|
|
NM_003803.4(MYOM1):c.1111+4G>T
|
rs868100406
|
0.00001
|
|
NM_003803.4(MYOM1):c.1111A>G (p.Arg371Gly)
|
rs746477848
|
0.00001
|
|
NM_003803.4(MYOM1):c.1122del (p.Glu375fs)
|
rs1292871061
|
0.00001
|
|
NM_003803.4(MYOM1):c.1139G>A (p.Arg380His)
|
rs761231031
|
0.00001
|
|
NM_003803.4(MYOM1):c.1147G>A (p.Ala383Thr)
|
rs373382857
|
0.00001
|
|
NM_003803.4(MYOM1):c.1205G>A (p.Arg402Gln)
|
rs755208926
|
0.00001
|
|
NM_003803.4(MYOM1):c.1259A>G (p.Glu420Gly)
|
rs751057253
|
0.00001
|
|
NM_003803.4(MYOM1):c.1329G>A (p.Trp443Ter)
|
rs1482296191
|
0.00001
|
|
NM_003803.4(MYOM1):c.1339G>A (p.Gly447Arg)
|
rs768549156
|
0.00001
|
|
NM_003803.4(MYOM1):c.1340-3T>C
|
rs901661479
|
0.00001
|
|
NM_003803.4(MYOM1):c.1362A>G (p.Lys454=)
|
rs778965112
|
0.00001
|
|
NM_003803.4(MYOM1):c.1379G>T (p.Trp460Leu)
|
rs770564336
|
0.00001
|
|
NM_003803.4(MYOM1):c.1442C>G (p.Thr481Arg)
|
rs370177143
|
0.00001
|
|
NM_003803.4(MYOM1):c.1453C>T (p.Arg485Trp)
|
rs776661300
|
0.00001
|
|
NM_003803.4(MYOM1):c.1481G>A (p.Ser494Asn)
|
rs1598736306
|
0.00001
|
|
NM_003803.4(MYOM1):c.1489G>A (p.Val497Ile)
|
rs1188358300
|
0.00001
|
|
NM_003803.4(MYOM1):c.1501G>A (p.Asp501Asn)
|
rs755826763
|
0.00001
|
|
NM_003803.4(MYOM1):c.1514A>C (p.Glu505Ala)
|
rs777964604
|
0.00001
|
|
NM_003803.4(MYOM1):c.1559A>G (p.Glu520Gly)
|
rs955564161
|
0.00001
|
|
NM_003803.4(MYOM1):c.1598C>T (p.Pro533Leu)
|
rs978269307
|
0.00001
|
|
NM_003803.4(MYOM1):c.1600G>C (p.Ala534Pro)
|
rs200286140
|
0.00001
|
|
NM_003803.4(MYOM1):c.1670C>T (p.Ser557Leu)
|
rs138551719
|
0.00001
|
|
NM_003803.4(MYOM1):c.1698T>G (p.Phe566Leu)
|
rs779144286
|
0.00001
|
|
NM_003803.4(MYOM1):c.169G>A (p.Glu57Lys)
|
rs749096655
|
0.00001
|
|
NM_003803.4(MYOM1):c.1702C>T (p.Arg568Cys)
|
rs1027670115
|
0.00001
|
|
NM_003803.4(MYOM1):c.1748G>C (p.Arg583Pro)
|
rs759519206
|
0.00001
|
|
NM_003803.4(MYOM1):c.1750G>T (p.Val584Phe)
|
rs1463412933
|
0.00001
|
|
NM_003803.4(MYOM1):c.1805T>A (p.Val602Glu)
|
rs2080224677
|
0.00001
|
|
NM_003803.4(MYOM1):c.1820C>T (p.Pro607Leu)
|
rs746549717
|
0.00001
|
|
NM_003803.4(MYOM1):c.184C>T (p.Arg62Cys)
|
rs766972653
|
0.00001
|
|
NM_003803.4(MYOM1):c.1858C>T (p.Pro620Ser)
|
rs759939330
|
0.00001
|
|
NM_003803.4(MYOM1):c.1871A>G (p.Gln624Arg)
|
rs777175291
|
0.00001
|
|
NM_003803.4(MYOM1):c.1872G>C (p.Gln624His)
|
rs771542759
|
0.00001
|
|
NM_003803.4(MYOM1):c.1900+1G>A
|
rs370882551
|
0.00001
|
|
NM_003803.4(MYOM1):c.2017G>A (p.Val673Met)
|
rs763030971
|
0.00001
|
|
NM_003803.4(MYOM1):c.2039C>A (p.Thr680Lys)
|
rs776286600
|
0.00001
|
|
NM_003803.4(MYOM1):c.2063C>T (p.Thr688Met)
|
rs772170052
|
0.00001
|
|
NM_003803.4(MYOM1):c.2069T>C (p.Leu690Pro)
|
rs533974334
|
0.00001
|
|
NM_003803.4(MYOM1):c.2080T>C (p.Ser694Pro)
|
rs775000239
|
0.00001
|
|
NM_003803.4(MYOM1):c.2135T>C (p.Val712Ala)
|
rs1486875567
|
0.00001
|
|
NM_003803.4(MYOM1):c.2180C>T (p.Thr727Met)
|
rs766680309
|
0.00001
|
|
NM_003803.4(MYOM1):c.2197G>A (p.Gly733Arg)
|
rs2079944241
|
0.00001
|
|
NM_003803.4(MYOM1):c.2264T>C (p.Val755Ala)
|
rs1437205792
|
0.00001
|
|
NM_003803.4(MYOM1):c.2471A>G (p.Gln824Arg)
|
rs1245030749
|
0.00001
|
|
NM_003803.4(MYOM1):c.2507-4G>A
|
rs746487171
|
0.00001
|
|
NM_003803.4(MYOM1):c.2507G>T (p.Gly836Val)
|
rs758019001
|
0.00001
|
|
NM_003803.4(MYOM1):c.251G>A (p.Arg84Gln)
|
rs756788476
|
0.00001
|
|
NM_003803.4(MYOM1):c.2534C>T (p.Pro845Leu)
|
rs1208842664
|
0.00001
|
|
NM_003803.4(MYOM1):c.2566G>A (p.Ala856Thr)
|
rs781472387
|
0.00001
|
|
NM_003803.4(MYOM1):c.2574G>C (p.Arg858Ser)
|
rs1422382078
|
0.00001
|
|
NM_003803.4(MYOM1):c.2576G>A (p.Gly859Glu)
|
rs776749799
|
0.00001
|
|
NM_003803.4(MYOM1):c.2579G>A (p.Arg860His)
|
rs770953683
|
0.00001
|
|
NM_003803.4(MYOM1):c.2597C>T (p.Pro866Leu)
|
rs200218235
|
0.00001
|
|
NM_003803.4(MYOM1):c.259G>A (p.Ala87Thr)
|
rs777236126
|
0.00001
|
|
NM_003803.4(MYOM1):c.2607C>G (p.Phe869Leu)
|
rs1555620828
|
0.00001
|
|
NM_003803.4(MYOM1):c.2636C>G (p.Pro879Arg)
|
rs1366454578
|
0.00001
|
|
NM_003803.4(MYOM1):c.2643A>T (p.Lys881Asn)
|
rs1295554112
|
0.00001
|
|
NM_003803.4(MYOM1):c.270C>A (p.Tyr90Ter)
|
rs1598777961
|
0.00001
|
|
NM_003803.4(MYOM1):c.2788G>A (p.Asp930Asn)
|
rs1188848520
|
0.00001
|
|
NM_003803.4(MYOM1):c.2800C>T (p.Pro934Ser)
|
rs1207305590
|
0.00001
|
|
NM_003803.4(MYOM1):c.2824T>G (p.Cys942Gly)
|
rs2079794317
|
0.00001
|
|
NM_003803.4(MYOM1):c.2840G>A (p.Arg947His)
|
rs764056484
|
0.00001
|
|
NM_003803.4(MYOM1):c.2875A>G (p.Lys959Glu)
|
rs192365952
|
0.00001
|
|
NM_003803.4(MYOM1):c.2920G>A (p.Glu974Lys)
|
rs774931774
|
0.00001
|
|
NM_003803.4(MYOM1):c.2935G>A (p.Val979Ile)
|
rs764885157
|
0.00001
|
|
NM_003803.4(MYOM1):c.296C>A (p.Thr99Lys)
|
rs776516464
|
0.00001
|
|
NM_003803.4(MYOM1):c.2975G>T (p.Ser992Ile)
|
rs751491766
|
0.00001
|
|
NM_003803.4(MYOM1):c.2992-1G>A
|
rs778797883
|
0.00001
|
|
NM_003803.4(MYOM1):c.299A>G (p.Asp100Gly)
|
rs770734389
|
0.00001
|
|
NM_003803.4(MYOM1):c.3070G>A (p.Ala1024Thr)
|
rs370829334
|
0.00001
|
|
NM_003803.4(MYOM1):c.3187G>A (p.Val1063Ile)
|
rs777270890
|
0.00001
|
|
NM_003803.4(MYOM1):c.3206C>T (p.Pro1069Leu)
|
rs761782867
|
0.00001
|
|
NM_003803.4(MYOM1):c.3260G>A (p.Trp1087Ter)
|
rs374670754
|
0.00001
|
|
NM_003803.4(MYOM1):c.3261G>A (p.Trp1087Ter)
|
rs989927725
|
0.00001
|
|
NM_003803.4(MYOM1):c.3272A>G (p.Asn1091Ser)
|
rs771574423
|
0.00001
|
|
NM_003803.4(MYOM1):c.3292G>A (p.Val1098Ile)
|
rs747313165
|
0.00001
|
|
NM_003803.4(MYOM1):c.3341G>A (p.Arg1114His)
|
rs746247312
|
0.00001
|
|
NM_003803.4(MYOM1):c.3355A>C (p.Asn1119His)
|
rs375222378
|
0.00001
|
|
NM_003803.4(MYOM1):c.3392G>A (p.Gly1131Asp)
|
rs761342329
|
0.00001
|
|
NM_003803.4(MYOM1):c.3444G>A (p.Val1148=)
|
rs745657195
|
0.00001
|
|
NM_003803.4(MYOM1):c.3575+6G>T
|
rs2079391924
|
0.00001
|
|
NM_003803.4(MYOM1):c.3617G>A (p.Gly1206Asp)
|
rs911029463
|
0.00001
|
|
NM_003803.4(MYOM1):c.3631G>A (p.Asp1211Asn)
|
rs375099753
|
0.00001
|
|
NM_003803.4(MYOM1):c.3655G>C (p.Ala1219Pro)
|
rs1294388277
|
0.00001
|
|
NM_003803.4(MYOM1):c.3670A>G (p.Ile1224Val)
|
rs779638228
|
0.00001
|
|
NM_003803.4(MYOM1):c.3682+1G>T
|
rs769418179
|
0.00001
|
|
NM_003803.4(MYOM1):c.368T>C (p.Leu123Pro)
|
rs781647654
|
0.00001
|
|
NM_003803.4(MYOM1):c.3691C>T (p.Arg1231Cys)
|
rs730880166
|
0.00001
|
|
NM_003803.4(MYOM1):c.3745G>T (p.Glu1249Ter)
|
rs7229433
|
0.00001
|
|
NM_003803.4(MYOM1):c.3781C>T (p.Arg1261Trp)
|
rs776620810
|
0.00001
|
|
NM_003803.4(MYOM1):c.3813C>T (p.Gly1271=)
|
rs771659817
|
0.00001
|
|
NM_003803.4(MYOM1):c.3876G>A (p.Met1292Ile)
|
rs1329139893
|
0.00001
|
|
NM_003803.4(MYOM1):c.3878A>G (p.His1293Arg)
|
rs1438274216
|
0.00001
|
|
NM_003803.4(MYOM1):c.3979A>C (p.Asn1327His)
|
rs938475906
|
0.00001
|
|
NM_003803.4(MYOM1):c.3986C>A (p.Ser1329Tyr)
|
rs772132509
|
0.00001
|
|
NM_003803.4(MYOM1):c.4195T>C (p.Ser1399Pro)
|
rs2079150081
|
0.00001
|
|
NM_003803.4(MYOM1):c.4270G>A (p.Gly1424Arg)
|
rs376646252
|
0.00001
|
|
NM_003803.4(MYOM1):c.4271G>A (p.Gly1424Glu)
|
rs752659443
|
0.00001
|
|
NM_003803.4(MYOM1):c.4300C>T (p.Arg1434Ter)
|
rs759049538
|
0.00001
|
|
NM_003803.4(MYOM1):c.4351C>G (p.Leu1451Val)
|
rs876657917
|
0.00001
|
|
NM_003803.4(MYOM1):c.4369A>C (p.Lys1457Gln)
|
rs772608447
|
0.00001
|
|
NM_003803.4(MYOM1):c.446G>A (p.Ser149Asn)
|
rs1474122021
|
0.00001
|
|
NM_003803.4(MYOM1):c.4496T>C (p.Ile1499Thr)
|
rs1060502820
|
0.00001
|
|
NM_003803.4(MYOM1):c.4580G>T (p.Gly1527Val)
|
rs1411286868
|
0.00001
|
|
NM_003803.4(MYOM1):c.4586A>G (p.Tyr1529Cys)
|
rs876657918
|
0.00001
|
|
NM_003803.4(MYOM1):c.4654G>A (p.Asp1552Asn)
|
rs759276149
|
0.00001
|
|
NM_003803.4(MYOM1):c.4741G>A (p.Val1581Met)
|
rs369605033
|
0.00001
|
|
NM_003803.4(MYOM1):c.4764G>A (p.Lys1588=)
|
rs1314931794
|
0.00001
|
|
NM_003803.4(MYOM1):c.481G>A (p.Glu161Lys)
|
rs914532145
|
0.00001
|
|
NM_003803.4(MYOM1):c.4886C>T (p.Ala1629Val)
|
rs1450498737
|
0.00001
|
|
NM_003803.4(MYOM1):c.4933G>A (p.Gly1645Arg)
|
rs765682686
|
0.00001
|
|
NM_003803.4(MYOM1):c.494A>G (p.Tyr165Cys)
|
rs775138562
|
0.00001
|
|
NM_003803.4(MYOM1):c.4987G>A (p.Val1663Met)
|
rs751200138
|
0.00001
|
|
NM_003803.4(MYOM1):c.500C>T (p.Ala167Val)
|
rs1567958745
|
0.00001
|
|
NM_003803.4(MYOM1):c.57C>G (p.Asn19Lys)
|
rs781278462
|
0.00001
|
|
NM_003803.4(MYOM1):c.592G>A (p.Ala198Thr)
|
rs749346618
|
0.00001
|
|
NM_003803.4(MYOM1):c.607A>G (p.Thr203Ala)
|
rs369999119
|
0.00001
|
|
NM_003803.4(MYOM1):c.646G>A (p.Ala216Thr)
|
rs1229084764
|
0.00001
|
|
NM_003803.4(MYOM1):c.68G>A (p.Arg23His)
|
rs369921436
|
0.00001
|
|
NM_003803.4(MYOM1):c.727G>C (p.Val243Leu)
|
rs201352656
|
0.00001
|
|
NM_003803.4(MYOM1):c.771+3A>G
|
rs1191646290
|
0.00001
|
|
NM_003803.4(MYOM1):c.776A>G (p.Glu259Gly)
|
rs752850247
|
0.00001
|
|
NM_003803.4(MYOM1):c.89A>T (p.Gln30Leu)
|
rs959971633
|
0.00001
|
|
NM_003803.4(MYOM1):c.914A>T (p.Glu305Val)
|
rs1477896162
|
0.00001
|
|
NM_003803.4(MYOM1):c.977A>G (p.Tyr326Cys)
|
rs773366188
|
0.00001
|
|
NM_004100.5(EYA4):c.1066C>G (p.Arg356Gly)
|
rs776882781
|
0.00001
|
|
NM_004100.5(EYA4):c.1073A>G (p.Asn358Ser)
|
rs1198001216
|
0.00001
|
|
NM_004100.5(EYA4):c.1078C>A (p.Pro360Thr)
|
rs765773822
|
0.00001
|
|
NM_004100.5(EYA4):c.1085C>T (p.Pro362Leu)
|
rs1168354526
|
0.00001
|
|
NM_004100.5(EYA4):c.1107+4T>C
|
rs1408725969
|
0.00001
|
|
NM_004100.5(EYA4):c.1108C>T (p.Arg370Cys)
|
rs576607924
|
0.00001
|
|
NM_004100.5(EYA4):c.1109G>A (p.Arg370His)
|
rs143936434
|
0.00001
|
|
NM_004100.5(EYA4):c.1222C>T (p.Arg408Cys)
|
rs775741050
|
0.00001
|
|
NM_004100.5(EYA4):c.1253A>G (p.Asp418Gly)
|
rs1363400539
|
0.00001
|
|
NM_004100.5(EYA4):c.1282-3C>T
|
rs769870399
|
0.00001
|
|
NM_004100.5(EYA4):c.1294G>C (p.Val432Leu)
|
rs145253833
|
0.00001
|
|
NM_004100.5(EYA4):c.1304A>G (p.Asp435Gly)
|
rs977093056
|
0.00001
|
|
NM_004100.5(EYA4):c.1434G>T (p.Met478Ile)
|
rs1187396214
|
0.00001
|
|
NM_004100.5(EYA4):c.1501+6T>C
|
rs1209961033
|
0.00001
|
|
NM_004100.5(EYA4):c.1624T>G (p.Cys542Gly)
|
rs1429034123
|
0.00001
|
|
NM_004100.5(EYA4):c.1639G>A (p.Val547Ile)
|
rs1270716473
|
0.00001
|
|
NM_004100.5(EYA4):c.1643C>T (p.Thr548Met)
|
rs1173190962
|
0.00001
|
|
NM_004100.5(EYA4):c.1696G>A (p.Gly566Ser)
|
rs908132048
|
0.00001
|
|
NM_004100.5(EYA4):c.1742A>G (p.Lys581Arg)
|
rs1800527323
|
0.00001
|
|
NM_004100.5(EYA4):c.1790T>C (p.Val597Ala)
|
rs1342058204
|
0.00001
|
|
NM_004100.5(EYA4):c.1822G>C (p.Glu608Gln)
|
rs1173508611
|
0.00001
|
|
NM_004100.5(EYA4):c.1893C>G (p.His631Gln)
|
rs769828566
|
0.00001
|
|
NM_004100.5(EYA4):c.208+3A>G
|
rs1234788716
|
0.00001
|
|
NM_004100.5(EYA4):c.213A>C (p.Glu71Asp)
|
rs200042576
|
0.00001
|
|
NM_004100.5(EYA4):c.260C>T (p.Thr87Ile)
|
rs753132753
|
0.00001
|
|
NM_004100.5(EYA4):c.271G>T (p.Ala91Ser)
|
rs1356492542
|
0.00001
|
|
NM_004100.5(EYA4):c.2T>C (p.Met1Thr)
|
rs200593099
|
0.00001
|
|
NM_004100.5(EYA4):c.33A>G (p.Ser11=)
|
rs143613363
|
0.00001
|
|
NM_004100.5(EYA4):c.349C>T (p.Leu117Phe)
|
rs1044216762
|
0.00001
|
|
NM_004100.5(EYA4):c.39G>C (p.Lys13Asn)
|
rs758104829
|
0.00001
|
|
NM_004100.5(EYA4):c.407A>G (p.His136Arg)
|
rs751662203
|
0.00001
|
|
NM_004100.5(EYA4):c.410A>G (p.Gln137Arg)
|
rs754993172
|
0.00001
|
|
NM_004100.5(EYA4):c.44C>T (p.Thr15Met)
|
rs769070323
|
0.00001
|
|
NM_004100.5(EYA4):c.463C>T (p.Pro155Ser)
|
rs543278630
|
0.00001
|
|
NM_004100.5(EYA4):c.478A>G (p.Met160Val)
|
rs1268878098
|
0.00001
|
|
NM_004100.5(EYA4):c.509C>T (p.Ser170Leu)
|
rs184768806
|
0.00001
|
|
NM_004100.5(EYA4):c.512G>T (p.Gly171Val)
|
rs1157191952
|
0.00001
|
|
NM_004100.5(EYA4):c.557A>G (p.Gln186Arg)
|
rs767996783
|
0.00001
|
|
NM_004100.5(EYA4):c.585G>C (p.Leu195Phe)
|
rs1794498749
|
0.00001
|
|
NM_004100.5(EYA4):c.586G>T (p.Gly196Cys)
|
rs764258439
|
0.00001
|
|
NM_004100.5(EYA4):c.59A>G (p.Asp20Gly)
|
rs779385322
|
0.00001
|
|
NM_004100.5(EYA4):c.601G>A (p.Ala201Thr)
|
rs765515937
|
0.00001
|
|
NM_004100.5(EYA4):c.623T>C (p.Leu208Pro)
|
rs2060740628
|
0.00001
|
|
NM_004100.5(EYA4):c.668G>C (p.Ser223Thr)
|
rs1468256328
|
0.00001
|
|
NM_004100.5(EYA4):c.683C>T (p.Thr228Ile)
|
rs747533734
|
0.00001
|
|
NM_004100.5(EYA4):c.698A>G (p.Gln233Arg)
|
rs776882909
|
0.00001
|
|
NM_004100.5(EYA4):c.707A>G (p.Tyr236Cys)
|
rs1060502993
|
0.00001
|
|
NM_004100.5(EYA4):c.723A>G (p.Pro241=)
|
rs556550485
|
0.00001
|
|
NM_004100.5(EYA4):c.770T>C (p.Val257Ala)
|
rs1794706639
|
0.00001
|
|
NM_004100.5(EYA4):c.790A>G (p.Ser264Gly)
|
rs1392356186
|
0.00001
|
|
NM_004100.5(EYA4):c.811C>G (p.Pro271Ala)
|
rs752023028
|
0.00001
|
|
NM_004100.5(EYA4):c.83+5A>G
|
rs1060502995
|
0.00001
|
|
NM_004100.5(EYA4):c.875C>T (p.Ala292Val)
|
rs764985361
|
0.00001
|
|
NM_004100.5(EYA4):c.89T>A (p.Met30Lys)
|
rs1554259054
|
0.00001
|
|
NM_004100.5(EYA4):c.901G>A (p.Asp301Asn)
|
rs779172192
|
0.00001
|
|
NM_004100.5(EYA4):c.919A>G (p.Thr307Ala)
|
rs1289099998
|
0.00001
|
|
NM_004100.5(EYA4):c.949C>T (p.Pro317Ser)
|
rs1554263071
|
0.00001
|
|
NM_004100.5(EYA4):c.970+6G>T
|
rs753123820
|
0.00001
|
|
NM_004281.4(BAG3):c.1012C>T (p.Pro338Ser)
|
rs1319754171
|
0.00001
|
|
NM_004281.4(BAG3):c.101C>T (p.Thr34Ile)
|
rs1387616851
|
0.00001
|
|
NM_004281.4(BAG3):c.1027C>T (p.Arg343Cys)
|
rs768613403
|
0.00001
|
|
NM_004281.4(BAG3):c.1035G>C (p.Glu345Asp)
|
rs1057522401
|
0.00001
|
|
NM_004281.4(BAG3):c.103G>A (p.Gly35Ser)
|
rs200072558
|
0.00001
|
|
NM_004281.4(BAG3):c.1058A>G (p.Gln353Arg)
|
rs764432849
|
0.00001
|
|
NM_004281.4(BAG3):c.1085T>C (p.Val362Ala)
|
rs200812717
|
0.00001
|
|
NM_004281.4(BAG3):c.109C>T (p.Pro37Ser)
|
rs764177199
|
0.00001
|
|
NM_004281.4(BAG3):c.1100C>G (p.Pro367Arg)
|
rs786205347
|
0.00001
|
|
NM_004281.4(BAG3):c.1109C>T (p.Pro370Leu)
|
rs746602007
|
0.00001
|
|
NM_004281.4(BAG3):c.1118G>A (p.Cys373Tyr)
|
rs876657745
|
0.00001
|
|
NM_004281.4(BAG3):c.1139C>T (p.Pro380Leu)
|
rs769467386
|
0.00001
|
|
NM_004281.4(BAG3):c.1141T>C (p.Ser381Pro)
|
rs763427403
|
0.00001
|
|
NM_004281.4(BAG3):c.1160C>T (p.Pro387Leu)
|
rs1060502816
|
0.00001
|
|
NM_004281.4(BAG3):c.1168G>A (p.Val390Met)
|
rs1847242044
|
0.00001
|
|
NM_004281.4(BAG3):c.1169T>C (p.Val390Ala)
|
rs1421913723
|
0.00001
|
|
NM_004281.4(BAG3):c.1184G>A (p.Arg395Lys)
|
rs111787446
|
0.00001
|
|
NM_004281.4(BAG3):c.1202C>G (p.Ala401Gly)
|
rs775153939
|
0.00001
|
|
NM_004281.4(BAG3):c.1217C>T (p.Thr406Ile)
|
rs727502900
|
0.00001
|
|
NM_004281.4(BAG3):c.1231G>A (p.Gly411Arg)
|
rs750627409
|
0.00001
|
|
NM_004281.4(BAG3):c.1250C>A (p.Pro417Gln)
|
rs751558069
|
0.00001
|
|
NM_004281.4(BAG3):c.1288G>A (p.Glu430Lys)
|
rs774713887
|
0.00001
|
|
NM_004281.4(BAG3):c.1289A>T (p.Glu430Val)
|
rs748744340
|
0.00001
|
|
NM_004281.4(BAG3):c.1323C>A (p.Asn441Lys)
|
rs1325704409
|
0.00001
|
|
NM_004281.4(BAG3):c.1407C>A (p.Asp469Glu)
|
rs1381722756
|
0.00001
|
|
NM_004281.4(BAG3):c.1429C>T (p.Arg477Cys)
|
rs775645671
|
0.00001
|
|
NM_004281.4(BAG3):c.1447G>A (p.Gly483Ser)
|
rs570294713
|
0.00001
|
|
NM_004281.4(BAG3):c.1469T>C (p.Ile490Thr)
|
rs1251253467
|
0.00001
|
|
NM_004281.4(BAG3):c.1477A>G (p.Lys493Glu)
|
rs1362214797
|
0.00001
|
|
NM_004281.4(BAG3):c.1570A>G (p.Ile524Val)
|
rs764925485
|
0.00001
|
|
NM_004281.4(BAG3):c.1571T>C (p.Ile524Thr)
|
rs752390475
|
0.00001
|
|
NM_004281.4(BAG3):c.1582G>C (p.Gly528Arg)
|
rs752007619
|
0.00001
|
|
NM_004281.4(BAG3):c.1586C>G (p.Ala529Gly)
|
rs369690617
|
0.00001
|
|
NM_004281.4(BAG3):c.1623T>A (p.Asn541Lys)
|
rs774573497
|
0.00001
|
|
NM_004281.4(BAG3):c.1624G>T (p.Ala542Ser)
|
rs760485616
|
0.00001
|
|
NM_004281.4(BAG3):c.1628_1633del (p.Glu543_Pro545delinsAla)
|
rs1847251591
|
0.00001
|
|
NM_004281.4(BAG3):c.1637A>T (p.His546Leu)
|
rs1334550097
|
0.00001
|
|
NM_004281.4(BAG3):c.1639A>C (p.Thr547Pro)
|
rs1057523768
|
0.00001
|
|
NM_004281.4(BAG3):c.1642G>C (p.Glu548Gln)
|
rs1335289497
|
0.00001
|
|
NM_004281.4(BAG3):c.164C>T (p.Pro55Leu)
|
rs1277623691
|
0.00001
|
|
NM_004281.4(BAG3):c.1664C>A (p.Thr555Lys)
|
rs1322157514
|
0.00001
|
|
NM_004281.4(BAG3):c.1685C>T (p.Pro562Leu)
|
rs1188545828
|
0.00001
|
|
NM_004281.4(BAG3):c.1702A>G (p.Thr568Ala)
|
rs1407009048
|
0.00001
|
|
NM_004281.4(BAG3):c.1720G>T (p.Ala574Ser)
|
rs779083262
|
0.00001
|
|
NM_004281.4(BAG3):c.1724C>T (p.Pro575Leu)
|
rs748233260
|
0.00001
|
|
NM_004281.4(BAG3):c.179A>G (p.Lys60Arg)
|
rs1212877946
|
0.00001
|
|
NM_004281.4(BAG3):c.181G>A (p.Glu61Lys)
|
rs187116556
|
0.00001
|
|
NM_004281.4(BAG3):c.283C>G (p.Pro95Ala)
|
rs727502898
|
0.00001
|
|
NM_004281.4(BAG3):c.299A>G (p.His100Arg)
|
rs1847122709
|
0.00001
|
|
NM_004281.4(BAG3):c.305G>A (p.Gly102Asp)
|
rs1554877016
|
0.00001
|
|
NM_004281.4(BAG3):c.307G>A (p.Ala103Thr)
|
rs774085716
|
0.00001
|
|
NM_004281.4(BAG3):c.315C>G (p.Asn105Lys)
|
rs566015884
|
0.00001
|
|
NM_004281.4(BAG3):c.322G>A (p.Val108Met)
|
rs730880053
|
0.00001
|
|
NM_004281.4(BAG3):c.325C>T (p.His109Tyr)
|
rs753302310
|
0.00001
|
|
NM_004281.4(BAG3):c.337G>A (p.Val113Ile)
|
rs781093275
|
0.00001
|
|
NM_004281.4(BAG3):c.341A>G (p.Tyr114Cys)
|
rs769813479
|
0.00001
|
|
NM_004281.4(BAG3):c.343C>T (p.Pro115Ser)
|
rs774241343
|
0.00001
|
|
NM_004281.4(BAG3):c.348G>C (p.Gln116His)
|
rs761808716
|
0.00001
|
|
NM_004281.4(BAG3):c.362G>A (p.Arg121Gln)
|
rs876657746
|
0.00001
|
|
NM_004281.4(BAG3):c.368G>A (p.Arg123Gln)
|
rs199991063
|
0.00001
|
|
NM_004281.4(BAG3):c.416G>A (p.Arg139Gln)
|
rs769913236
|
0.00001
|
|
NM_004281.4(BAG3):c.418G>A (p.Gly140Ser)
|
rs780169403
|
0.00001
|
|
NM_004281.4(BAG3):c.452G>A (p.Cys151Tyr)
|
rs770678896
|
0.00001
|
|
NM_004281.4(BAG3):c.460G>C (p.Val154Leu)
|
rs376198104
|
0.00001
|
|
NM_004281.4(BAG3):c.46A>G (p.Asn16Asp)
|
rs1474784659
|
0.00001
|
|
NM_004281.4(BAG3):c.473C>T (p.Ala158Val)
|
rs369981590
|
0.00001
|
|
NM_004281.4(BAG3):c.50G>C (p.Gly17Ala)
|
rs1846842565
|
0.00001
|
|
NM_004281.4(BAG3):c.515A>G (p.Gln172Arg)
|
rs1847160177
|
0.00001
|
|
NM_004281.4(BAG3):c.524C>T (p.Ala175Val)
|
rs1847160512
|
0.00001
|
|
NM_004281.4(BAG3):c.542C>T (p.Ser181Phe)
|
rs1482925321
|
0.00001
|
|
NM_004281.4(BAG3):c.557C>T (p.Ala186Val)
|
rs766766600
|
0.00001
|
|
NM_004281.4(BAG3):c.55C>T (p.Arg19Cys)
|
rs727502896
|
0.00001
|
|
NM_004281.4(BAG3):c.578G>A (p.Arg193Lys)
|
rs752722473
|
0.00001
|
|
NM_004281.4(BAG3):c.607C>T (p.Arg203Trp)
|
rs1047671466
|
0.00001
|
|
NM_004281.4(BAG3):c.646G>A (p.Val216Ile)
|
rs148282376
|
0.00001
|
|
NM_004281.4(BAG3):c.67C>T (p.Pro23Ser)
|
rs747846089
|
0.00001
|
|
NM_004281.4(BAG3):c.692C>T (p.Thr231Met)
|
rs747454279
|
0.00001
|
|
NM_004281.4(BAG3):c.704C>T (p.Ala235Val)
|
rs371731106
|
0.00001
|
|
NM_004281.4(BAG3):c.710A>G (p.Gln237Arg)
|
rs1589630230
|
0.00001
|
|
NM_004281.4(BAG3):c.71C>G (p.Pro24Arg)
|
rs771609568
|
0.00001
|
|
NM_004281.4(BAG3):c.770C>T (p.Pro257Leu)
|
rs765142940
|
0.00001
|
|
NM_004281.4(BAG3):c.775C>T (p.Pro259Ser)
|
rs375687199
|
0.00001
|
|
NM_004281.4(BAG3):c.794C>T (p.Pro265Leu)
|
rs769034041
|
0.00001
|
|
NM_004281.4(BAG3):c.826C>T (p.Arg276Trp)
|
rs759573189
|
0.00001
|
|
NM_004281.4(BAG3):c.836C>T (p.Ser279Leu)
|
rs751261054
|
0.00001
|
|
NM_004281.4(BAG3):c.838C>T (p.Pro280Ser)
|
rs1210697765
|
0.00001
|
|
NM_004281.4(BAG3):c.841G>A (p.Ala281Thr)
|
rs1248777510
|
0.00001
|
|
NM_004281.4(BAG3):c.844A>G (p.Arg282Gly)
|
rs1847167969
|
0.00001
|
|
NM_004281.4(BAG3):c.881G>A (p.Arg294His)
|
rs151335530
|
0.00001
|
|
NM_004281.4(BAG3):c.88A>G (p.Ile30Val)
|
rs766796091
|
0.00001
|
|
NM_004281.4(BAG3):c.905C>T (p.Pro302Leu)
|
rs201416791
|
0.00001
|
|
NM_004281.4(BAG3):c.909+4C>T
|
rs376351857
|
0.00001
|
|
NM_004281.4(BAG3):c.910-2A>C
|
rs762944997
|
0.00001
|
|
NM_004281.4(BAG3):c.944C>T (p.Ser315Phe)
|
rs1060502818
|
0.00001
|
|
NM_004281.4(BAG3):c.947A>G (p.Gln316Arg)
|
rs1246603543
|
0.00001
|
|
NM_004281.4(BAG3):c.957C>G (p.Asn319Lys)
|
rs767223665
|
0.00001
|
|
NM_004281.4(BAG3):c.988C>T (p.Pro330Ser)
|
rs762376423
|
0.00001
|
|
NM_004281.4(BAG3):c.997C>T (p.Pro333Ser)
|
rs1393181351
|
0.00001
|
|
NM_004415.4(DSP):c.1012C>T (p.Leu338Phe)
|
rs774852168
|
0.00001
|
|
NM_004415.4(DSP):c.1045-3C>T
|
rs765077011
|
0.00001
|
|
NM_004415.4(DSP):c.1136T>C (p.Phe379Ser)
|
rs1064795084
|
0.00001
|
|
NM_004415.4(DSP):c.120G>A (p.Met40Ile)
|
rs1377575571
|
0.00001
|
|
NM_004415.4(DSP):c.1225A>T (p.Met409Leu)
|
rs890837021
|
0.00001
|
|
NM_004415.4(DSP):c.1268A>G (p.Lys423Arg)
|
rs1175321093
|
0.00001
|
|
NM_004415.4(DSP):c.1283T>A (p.Ile428Asn)
|
rs760246407
|
0.00001
|
|
NM_004415.4(DSP):c.1291T>C (p.Tyr431His)
|
rs1039885114
|
0.00001
|
|
NM_004415.4(DSP):c.1297C>T (p.Arg433Cys)
|
rs767032884
|
0.00001
|
|
NM_004415.4(DSP):c.1378C>G (p.Pro460Ala)
|
rs749422119
|
0.00001
|
|
NM_004415.4(DSP):c.1553T>G (p.Leu518Arg)
|
rs1758969230
|
0.00001
|
|
NM_004415.4(DSP):c.1574+3A>G
|
rs1231896749
|
0.00001
|
|
NM_004415.4(DSP):c.1671A>G (p.Ile557Met)
|
rs766505506
|
0.00001
|
|
NM_004415.4(DSP):c.1726T>C (p.Tyr576His)
|
rs1251859576
|
0.00001
|
|
NM_004415.4(DSP):c.1730T>C (p.Met577Thr)
|
rs141956992
|
0.00001
|
|
NM_004415.4(DSP):c.181A>G (p.Thr61Ala)
|
rs1380249575
|
0.00001
|
|
NM_004415.4(DSP):c.1901C>G (p.Thr634Arg)
|
rs139964486
|
0.00001
|
|
NM_004415.4(DSP):c.2054G>C (p.Arg685Thr)
|
rs1212756552
|
0.00001
|
|
NM_004415.4(DSP):c.2081C>T (p.Ala694Val)
|
rs543446763
|
0.00001
|
|
NM_004415.4(DSP):c.2158G>T (p.Ala720Ser)
|
rs1180846023
|
0.00001
|
|
NM_004415.4(DSP):c.2192C>A (p.Ala731Asp)
|
rs1280322841
|
0.00001
|
|
NM_004415.4(DSP):c.2246T>C (p.Leu749Pro)
|
rs935504136
|
0.00001
|
|
NM_004415.4(DSP):c.2298-3C>T
|
rs1300722110
|
0.00001
|
|
NM_004415.4(DSP):c.2510A>C (p.Gln837Pro)
|
rs1202933658
|
0.00001
|
|
NM_004415.4(DSP):c.2550_2552dup (p.Leu851dup)
|
rs730880373
|
0.00001
|
|
NM_004415.4(DSP):c.2617C>G (p.Gln873Glu)
|
rs794728118
|
0.00001
|
|
NM_004415.4(DSP):c.2629A>C (p.Arg877=)
|
rs1581810753
|
0.00001
|
|
NM_004415.4(DSP):c.2630+3A>G
|
rs1174928581
|
0.00001
|
|
NM_004415.4(DSP):c.273+3A>G
|
rs794728107
|
0.00001
|
|
NM_004415.4(DSP):c.2906C>T (p.Thr969Ile)
|
rs1265482489
|
0.00001
|
|
NM_004415.4(DSP):c.2924T>C (p.Leu975Pro)
|
rs1473895931
|
0.00001
|
|
NM_004415.4(DSP):c.2966C>T (p.Ser989Phe)
|
rs746346559
|
0.00001
|
|
NM_004415.4(DSP):c.2985G>A (p.Glu995=)
|
rs768858918
|
0.00001
|
|
NM_004415.4(DSP):c.2995G>A (p.Val999Ile)
|
rs1261418744
|
0.00001
|
|
NM_004415.4(DSP):c.2T>G (p.Met1Arg)
|
rs748738880
|
0.00001
|
|
NM_004415.4(DSP):c.3001G>T (p.Ala1001Ser)
|
rs1218975129
|
0.00001
|
|
NM_004415.4(DSP):c.3025A>G (p.Arg1009Gly)
|
rs1413346143
|
0.00001
|
|
NM_004415.4(DSP):c.3059T>C (p.Met1020Thr)
|
rs773331618
|
0.00001
|
|
NM_004415.4(DSP):c.3067A>C (p.Ser1023Arg)
|
rs766388963
|
0.00001
|
|
NM_004415.4(DSP):c.3084G>A (p.Lys1028=)
|
rs964949139
|
0.00001
|
|
NM_004415.4(DSP):c.3277G>A (p.Ala1093Thr)
|
rs1185986064
|
0.00001
|
|
NM_004415.4(DSP):c.3379T>C (p.Ser1127Pro)
|
rs1581815458
|
0.00001
|
|
NM_004415.4(DSP):c.3644A>G (p.Asn1215Ser)
|
rs777375223
|
0.00001
|
|
NM_004415.4(DSP):c.3649A>T (p.Thr1217Ser)
|
rs770484693
|
0.00001
|
|
NM_004415.4(DSP):c.364G>A (p.Asp122Asn)
|
rs756013600
|
0.00001
|
|
NM_004415.4(DSP):c.3680A>G (p.Gln1227Arg)
|
rs1458557680
|
0.00001
|
|
NM_004415.4(DSP):c.3742G>A (p.Asp1248Asn)
|
rs989348634
|
0.00001
|
|
NM_004415.4(DSP):c.3757A>C (p.Ile1253Leu)
|
rs924651718
|
0.00001
|
|
NM_004415.4(DSP):c.3820G>A (p.Ala1274Thr)
|
rs1285435504
|
0.00001
|
|
NM_004415.4(DSP):c.3838T>C (p.Cys1280Arg)
|
rs1473719755
|
0.00001
|
|
NM_004415.4(DSP):c.4112A>G (p.Asn1371Ser)
|
rs369649373
|
0.00001
|
|
NM_004415.4(DSP):c.4142C>G (p.Thr1381Ser)
|
rs767174407
|
0.00001
|
|
NM_004415.4(DSP):c.4184T>A (p.Ile1395Lys)
|
rs1220191244
|
0.00001
|
|
NM_004415.4(DSP):c.423G>C (p.Arg141Ser)
|
rs771688614
|
0.00001
|
|
NM_004415.4(DSP):c.4312T>C (p.Ser1438Pro)
|
rs1561698695
|
0.00001
|
|
NM_004415.4(DSP):c.431A>C (p.Gln144Pro)
|
rs768178768
|
0.00001
|
|
NM_004415.4(DSP):c.4358A>C (p.Gln1453Pro)
|
rs1464785832
|
0.00001
|
|
NM_004415.4(DSP):c.4457T>C (p.Leu1486Ser)
|
rs779863353
|
0.00001
|
|
NM_004415.4(DSP):c.4592A>C (p.Gln1531Pro)
|
rs1208037043
|
0.00001
|
|
NM_004415.4(DSP):c.4625A>G (p.Tyr1542Cys)
|
rs1279142467
|
0.00001
|
|
NM_004415.4(DSP):c.4684T>C (p.Ser1562Pro)
|
rs1394590334
|
0.00001
|
|
NM_004415.4(DSP):c.4754C>T (p.Ser1585Leu)
|
rs773622004
|
0.00001
|
|
NM_004415.4(DSP):c.4841A>G (p.Asn1614Ser)
|
rs1759419529
|
0.00001
|
|
NM_004415.4(DSP):c.4862A>G (p.Gln1621Arg)
|
rs1226931552
|
0.00001
|
|
NM_004415.4(DSP):c.4916T>G (p.Val1639Gly)
|
rs1304994640
|
0.00001
|
|
NM_004415.4(DSP):c.5014C>G (p.Gln1672Glu)
|
rs786205416
|
0.00001
|
|
NM_004415.4(DSP):c.50T>G (p.Met17Arg)
|
rs559248100
|
0.00001
|
|
NM_004415.4(DSP):c.5120A>T (p.Gln1707Leu)
|
rs768870428
|
0.00001
|
|
NM_004415.4(DSP):c.5153T>C (p.Leu1718Ser)
|
rs1278859783
|
0.00001
|
|
NM_004415.4(DSP):c.5186T>G (p.Leu1729Arg)
|
rs377344768
|
0.00001
|
|
NM_004415.4(DSP):c.5242A>G (p.Thr1748Ala)
|
rs1315952619
|
0.00001
|
|
NM_004415.4(DSP):c.5284C>T (p.Arg1762Trp)
|
rs766833113
|
0.00001
|
|
NM_004415.4(DSP):c.5396A>G (p.Gln1799Arg)
|
rs987386495
|
0.00001
|
|
NM_004415.4(DSP):c.5647T>C (p.Ser1883Pro)
|
rs1056652234
|
0.00001
|
|
NM_004415.4(DSP):c.5707C>A (p.Gln1903Lys)
|
rs794728103
|
0.00001
|
|
NM_004415.4(DSP):c.5752G>A (p.Glu1918Lys)
|
rs1352220803
|
0.00001
|
|
NM_004415.4(DSP):c.5779C>G (p.Gln1927Glu)
|
rs794728104
|
0.00001
|
|
NM_004415.4(DSP):c.582G>T (p.Trp194Cys)
|
rs1345570966
|
0.00001
|
|
NM_004415.4(DSP):c.5875T>C (p.Trp1959Arg)
|
rs1759501923
|
0.00001
|
|
NM_004415.4(DSP):c.5984T>C (p.Leu1995Ser)
|
rs794728128
|
0.00001
|
|
NM_004415.4(DSP):c.599C>T (p.Ala200Val)
|
rs1337095425
|
0.00001
|
|
NM_004415.4(DSP):c.6002T>A (p.Val2001Glu)
|
rs926676669
|
0.00001
|
|
NM_004415.4(DSP):c.6059G>C (p.Gly2020Ala)
|
rs1327599046
|
0.00001
|
|
NM_004415.4(DSP):c.6137T>G (p.Val2046Gly)
|
rs746016404
|
0.00001
|
|
NM_004415.4(DSP):c.6141G>C (p.Met2047Ile)
|
rs374226658
|
0.00001
|
|
NM_004415.4(DSP):c.6235G>C (p.Asp2079His)
|
rs992731463
|
0.00001
|
|
NM_004415.4(DSP):c.6259T>C (p.Tyr2087His)
|
rs780332266
|
0.00001
|
|
NM_004415.4(DSP):c.6325G>A (p.Glu2109Lys)
|
rs397516951
|
0.00001
|
|
NM_004415.4(DSP):c.6359C>T (p.Thr2120Ile)
|
rs1759528864
|
0.00001
|
|
NM_004415.4(DSP):c.6403G>A (p.Val2135Ile)
|
rs1416815807
|
0.00001
|
|
NM_004415.4(DSP):c.6415A>G (p.Asn2139Asp)
|
rs762434061
|
0.00001
|
|
NM_004415.4(DSP):c.6547T>G (p.Tyr2183Asp)
|
rs763549172
|
0.00001
|
|
NM_004415.4(DSP):c.6587C>T (p.Thr2196Ile)
|
rs958098310
|
0.00001
|
|
NM_004415.4(DSP):c.6592C>G (p.Leu2198Val)
|
rs752057967
|
0.00001
|
|
NM_004415.4(DSP):c.6733G>A (p.Glu2245Lys)
|
rs539763516
|
0.00001
|
|
NM_004415.4(DSP):c.677A>G (p.Asn226Ser)
|
rs921332894
|
0.00001
|
|
NM_004415.4(DSP):c.6859A>T (p.Thr2287Ser)
|
rs869025396
|
0.00001
|
|
NM_004415.4(DSP):c.6956G>A (p.Gly2319Asp)
|
rs762943687
|
0.00001
|
|
NM_004415.4(DSP):c.695G>A (p.Arg232His)
|
rs749438581
|
0.00001
|
|
NM_004415.4(DSP):c.7162G>A (p.Val2388Ile)
|
rs370490538
|
0.00001
|
|
NM_004415.4(DSP):c.7172C>T (p.Ala2391Val)
|
rs879254351
|
0.00001
|
|
NM_004415.4(DSP):c.7193A>G (p.Asn2398Ser)
|
rs1251606363
|
0.00001
|
|
NM_004415.4(DSP):c.7279C>A (p.Leu2427Met)
|
rs555784793
|
0.00001
|
|
NM_004415.4(DSP):c.7341A>C (p.Lys2447Asn)
|
rs755448403
|
0.00001
|
|
NM_004415.4(DSP):c.7390C>T (p.Arg2464Cys)
|
rs778822920
|
0.00001
|
|
NM_004415.4(DSP):c.7433C>T (p.Ser2478Phe)
|
rs1759570987
|
0.00001
|
|
NM_004415.4(DSP):c.7451A>G (p.Lys2484Arg)
|
rs1346398330
|
0.00001
|
|
NM_004415.4(DSP):c.7501T>C (p.Cys2501Arg)
|
rs776405018
|
0.00001
|
|
NM_004415.4(DSP):c.7534G>T (p.Asp2512Tyr)
|
rs772574987
|
0.00001
|
|
NM_004415.4(DSP):c.764A>T (p.Tyr255Phe)
|
rs1490279963
|
0.00001
|
|
NM_004415.4(DSP):c.7694A>C (p.Asn2565Thr)
|
rs769572594
|
0.00001
|
|
NM_004415.4(DSP):c.7778T>G (p.Ile2593Ser)
|
rs563272509
|
0.00001
|
|
NM_004415.4(DSP):c.7783A>G (p.Thr2595Ala)
|
rs1170072296
|
0.00001
|
|
NM_004415.4(DSP):c.7784C>T (p.Thr2595Ile)
|
rs772951950
|
0.00001
|
|
NM_004415.4(DSP):c.7819A>G (p.Ser2607Gly)
|
rs1371480664
|
0.00001
|
|
NM_004415.4(DSP):c.7855A>G (p.Ile2619Val)
|
rs767630308
|
0.00001
|
|
NM_004415.4(DSP):c.7885G>A (p.Glu2629Lys)
|
rs756976948
|
0.00001
|
|
NM_004415.4(DSP):c.8014C>G (p.Gln2672Glu)
|
rs1064793890
|
0.00001
|
|
NM_004415.4(DSP):c.8015A>C (p.Gln2672Pro)
|
rs1060500612
|
0.00001
|
|
NM_004415.4(DSP):c.8032G>A (p.Gly2678Ser)
|
rs1371748682
|
0.00001
|
|
NM_004415.4(DSP):c.8137G>A (p.Val2713Met)
|
rs1219478425
|
0.00001
|
|
NM_004415.4(DSP):c.8162A>G (p.Glu2721Gly)
|
rs1324438820
|
0.00001
|
|
NM_004415.4(DSP):c.8210T>C (p.Val2737Ala)
|
rs794728155
|
0.00001
|
|
NM_004415.4(DSP):c.8216C>T (p.Pro2739Leu)
|
rs761527198
|
0.00001
|
|
NM_004415.4(DSP):c.8253C>G (p.Ile2751Met)
|
rs1165200201
|
0.00001
|
|
NM_004415.4(DSP):c.8330C>A (p.Pro2777His)
|
rs376273136
|
0.00001
|
|
NM_004415.4(DSP):c.8389A>G (p.Ile2797Val)
|
rs1040353645
|
0.00001
|
|
NM_004415.4(DSP):c.8404C>T (p.Leu2802Phe)
|
rs201271117
|
0.00001
|
|
NM_004415.4(DSP):c.844G>A (p.Glu282Lys)
|
rs397516966
|
0.00001
|
|
NM_004415.4(DSP):c.8495G>T (p.Gly2832Val)
|
rs397516970
|
0.00001
|
|
NM_004415.4(DSP):c.8606T>C (p.Ile2869Thr)
|
rs1759656543
|
0.00001
|
|
NM_004415.4(DSP):c.917C>G (p.Ala306Gly)
|
rs1758833983
|
0.00001
|
|
NM_004453.4(ETFDH):c.1004G>C (p.Ser335Thr)
|
rs770140708
|
0.00001
|
|
NM_004453.4(ETFDH):c.1005T>G (p.Ser335Arg)
|
rs1452265763
|
0.00001
|
|
NM_004453.4(ETFDH):c.1036C>T (p.His346Tyr)
|
rs749456492
|
0.00001
|
|
NM_004453.4(ETFDH):c.1079C>T (p.Ala360Val)
|
rs776428695
|
0.00001
|
|
NM_004453.4(ETFDH):c.1255A>T (p.Thr419Ser)
|
rs574791445
|
0.00001
|
|
NM_004453.4(ETFDH):c.1331T>C (p.Val444Ala)
|
rs760234838
|
0.00001
|
|
NM_004453.4(ETFDH):c.1334G>T (p.Trp445Leu)
|
rs763536356
|
0.00001
|
|
NM_004453.4(ETFDH):c.1345T>C (p.Tyr449His)
|
rs750799644
|
0.00001
|
|
NM_004453.4(ETFDH):c.1369T>C (p.Ser457Pro)
|
rs1404615636
|
0.00001
|
|
NM_004453.4(ETFDH):c.1378G>A (p.Gly460Arg)
|
rs989125087
|
0.00001
|
|
NM_004453.4(ETFDH):c.1457T>C (p.Leu486Pro)
|
rs751839607
|
0.00001
|
|
NM_004453.4(ETFDH):c.148C>T (p.Pro50Ser)
|
rs937646249
|
0.00001
|
|
NM_004453.4(ETFDH):c.1669G>A (p.Glu557Lys)
|
rs1279728239
|
0.00001
|
|
NM_004453.4(ETFDH):c.1676G>A (p.Arg559Gln)
|
rs768961719
|
0.00001
|
|
NM_004453.4(ETFDH):c.1813G>T (p.Val605Leu)
|
rs1774702955
|
0.00001
|
|
NM_004453.4(ETFDH):c.1823G>A (p.Gly608Asp)
|
rs1303489545
|
0.00001
|
|
NM_004453.4(ETFDH):c.1852T>C (p.Ter618Gln)
|
rs765742496
|
0.00001
|
|
NM_004453.4(ETFDH):c.256C>T (p.Arg86Cys)
|
rs1242099513
|
0.00001
|
|
NM_004453.4(ETFDH):c.257G>A (p.Arg86His)
|
rs777655131
|
0.00001
|
|
NM_004453.4(ETFDH):c.472G>A (p.Val158Met)
|
rs774614480
|
0.00001
|
|
NM_004453.4(ETFDH):c.586C>G (p.Pro196Ala)
|
rs201067972
|
0.00001
|
|
NM_004453.4(ETFDH):c.689C>T (p.Thr230Ile)
|
rs999532162
|
0.00001
|
|
NM_004453.4(ETFDH):c.728T>C (p.Ile243Thr)
|
rs1397900640
|
0.00001
|
|
NM_004453.4(ETFDH):c.731T>C (p.Phe244Ser)
|
rs1448673327
|
0.00001
|
|
NM_004453.4(ETFDH):c.733G>A (p.Ala245Thr)
|
rs371260517
|
0.00001
|
|
NM_004453.4(ETFDH):c.835T>C (p.Trp279Arg)
|
rs754082348
|
0.00001
|
|
NM_004453.4(ETFDH):c.881C>G (p.Thr294Ser)
|
rs748958949
|
0.00001
|
|
NM_004453.4(ETFDH):c.937A>G (p.Asn313Asp)
|
rs762031780
|
0.00001
|
|
NM_004453.4(ETFDH):c.940G>C (p.Glu314Gln)
|
rs201579588
|
0.00001
|
|
NM_004453.4(ETFDH):c.950C>T (p.Pro317Leu)
|
rs1394204740
|
0.00001
|
|
NM_004517.4(ILK):c.1022A>G (p.Lys341Arg)
|
rs781099551
|
0.00001
|
|
NM_004517.4(ILK):c.1045C>T (p.Arg349Cys)
|
rs1257537906
|
0.00001
|
|
NM_004517.4(ILK):c.1111C>T (p.Arg371Cys)
|
rs759330457
|
0.00001
|
|
NM_004517.4(ILK):c.1112G>A (p.Arg371His)
|
rs370480843
|
0.00001
|
|
NM_004517.4(ILK):c.1162C>T (p.Arg388Trp)
|
rs776996356
|
0.00001
|
|
NM_004517.4(ILK):c.1210-2A>G
|
rs748640419
|
0.00001
|
|
NM_004517.4(ILK):c.1307G>A (p.Arg436Gln)
|
rs773362090
|
0.00001
|
|
NM_004517.4(ILK):c.1322T>G (p.Met441Arg)
|
rs1452306438
|
0.00001
|
|
NM_004517.4(ILK):c.1331C>A (p.Pro444His)
|
rs959927407
|
0.00001
|
|
NM_004517.4(ILK):c.1357T>C (p.Ter453Gln)
|
rs756620800
|
0.00001
|
|
NM_004517.4(ILK):c.175C>T (p.Arg59Trp)
|
rs779428507
|
0.00001
|
|
NM_004517.4(ILK):c.193C>T (p.Arg65Cys)
|
rs776161614
|
0.00001
|
|
NM_004517.4(ILK):c.35A>G (p.Asn12Ser)
|
rs765978022
|
0.00001
|
|
NM_004517.4(ILK):c.428C>T (p.Pro143Leu)
|
rs201763536
|
0.00001
|
|
NM_004517.4(ILK):c.451C>T (p.Arg151Trp)
|
rs771485363
|
0.00001
|
|
NM_004517.4(ILK):c.452G>A (p.Arg151Gln)
|
rs774837228
|
0.00001
|
|
NM_004517.4(ILK):c.586C>G (p.Leu196Val)
|
rs1855236652
|
0.00001
|
|
NM_004517.4(ILK):c.613G>A (p.Gly205Arg)
|
rs757473698
|
0.00001
|
|
NM_004517.4(ILK):c.632G>A (p.Arg211His)
|
rs200288502
|
0.00001
|
|
NM_004517.4(ILK):c.636G>T (p.Trp212Cys)
|
rs758462999
|
0.00001
|
|
NM_004517.4(ILK):c.674G>A (p.Arg225Gln)
|
rs1315052873
|
0.00001
|
|
NM_004517.4(ILK):c.721C>T (p.Arg241Trp)
|
rs765298592
|
0.00001
|
|
NM_004517.4(ILK):c.757G>C (p.Val253Leu)
|
rs1855289433
|
0.00001
|
|
NM_004517.4(ILK):c.799C>G (p.Leu267Val)
|
rs1236862935
|
0.00001
|
|
NM_004517.4(ILK):c.968G>A (p.Arg323His)
|
rs199652324
|
0.00001
|
|
NM_005159.5(ACTC1):c.1085A>C (p.Gln362Pro)
|
rs375435815
|
0.00001
|
|
NM_005159.5(ACTC1):c.1099G>A (p.Ala367Thr)
|
rs370256882
|
0.00001
|
|
NM_005159.5(ACTC1):c.129G>A (p.Gln43=)
|
rs878854753
|
0.00001
|
|
NM_005159.5(ACTC1):c.268C>T (p.His90Tyr)
|
rs121912676
|
0.00001
|
|
NM_005159.5(ACTC1):c.289C>T (p.Arg97Cys)
|
rs759495229
|
0.00001
|
|
NM_005159.5(ACTC1):c.311C>T (p.Pro104Leu)
|
rs1405829098
|
0.00001
|
|
NM_005159.5(ACTC1):c.454+5G>C
|
rs756249146
|
0.00001
|
|
NM_005159.5(ACTC1):c.455-6G>A
|
rs1359050330
|
0.00001
|
|
NM_005159.5(ACTC1):c.5G>A (p.Cys2Tyr)
|
rs1469206760
|
0.00001
|
|
NM_005159.5(ACTC1):c.622C>T (p.Arg208Cys)
|
rs727505179
|
0.00001
|
|
NM_005159.5(ACTC1):c.886T>C (p.Tyr296His)
|
rs730880402
|
0.00001
|
|
NM_005159.5(ACTC1):c.967G>A (p.Ala323Thr)
|
rs771011464
|
0.00001
|
|
NM_005343.4(HRAS):c.11A>G (p.Tyr4Cys)
|
rs764622691
|
0.00001
|
|
NM_005343.4(HRAS):c.221C>T (p.Thr74Ile)
|
rs1291306227
|
0.00001
|
|
NM_005343.4(HRAS):c.223G>A (p.Gly75Arg)
|
rs756190012
|
0.00001
|
|
NM_005343.4(HRAS):c.277A>G (p.Ile93Val)
|
rs587782949
|
0.00001
|
|
NM_005343.4(HRAS):c.297G>T (p.Gln99His)
|
rs199656012
|
0.00001
|
|
NM_005343.4(HRAS):c.302A>G (p.Lys101Arg)
|
rs1131691997
|
0.00001
|
|
NM_005343.4(HRAS):c.304C>T (p.Arg102Trp)
|
rs1057517913
|
0.00001
|
|
NM_005343.4(HRAS):c.307G>A (p.Val103Met)
|
rs1213269684
|
0.00001
|
|
NM_005343.4(HRAS):c.317C>T (p.Ser106Leu)
|
rs730880462
|
0.00001
|
|
NM_005343.4(HRAS):c.31G>A (p.Ala11Thr)
|
rs727504496
|
0.00001
|
|
NM_005343.4(HRAS):c.329C>T (p.Pro110Leu)
|
rs1204223913
|
0.00001
|
|
NM_005343.4(HRAS):c.365C>T (p.Ala122Val)
|
rs779711606
|
0.00001
|
|
NM_005343.4(HRAS):c.382C>T (p.Arg128Trp)
|
rs1350889077
|
0.00001
|
|
NM_005343.4(HRAS):c.383G>C (p.Arg128Pro)
|
rs1554884794
|
0.00001
|
|
NM_005343.4(HRAS):c.391C>T (p.Gln131Ter)
|
rs376688893
|
0.00001
|
|
NM_005343.4(HRAS):c.394G>A (p.Asp132Asn)
|
rs759893630
|
0.00001
|
|
NM_005343.4(HRAS):c.398T>A (p.Leu133His)
|
rs766801436
|
0.00001
|
|
NM_005343.4(HRAS):c.400G>A (p.Ala134Thr)
|
rs1389157073
|
0.00001
|
|
NM_005343.4(HRAS):c.407G>A (p.Ser136Asn)
|
rs748289593
|
0.00001
|
|
NM_005343.4(HRAS):c.410A>C (p.Tyr137Ser)
|
rs1180561549
|
0.00001
|
|
NM_005343.4(HRAS):c.422A>G (p.Tyr141Cys)
|
rs372048612
|
0.00001
|
|
NM_005343.4(HRAS):c.451-3C>T
|
rs1158205210
|
0.00001
|
|
NM_005343.4(HRAS):c.454G>A (p.Val152Met)
|
rs1851183840
|
0.00001
|
|
NM_005343.4(HRAS):c.461A>T (p.Asp154Val)
|
rs1434040739
|
0.00001
|
|
NM_005343.4(HRAS):c.463G>A (p.Ala155Thr)
|
rs1171537215
|
0.00001
|
|
NM_005343.4(HRAS):c.482G>A (p.Arg161His)
|
rs748729430
|
0.00001
|
|
NM_005343.4(HRAS):c.490C>T (p.Arg164Trp)
|
rs779101895
|
0.00001
|
|
NM_005343.4(HRAS):c.491G>A (p.Arg164Gln)
|
rs753977266
|
0.00001
|
|
NM_005343.4(HRAS):c.496C>T (p.His166Tyr)
|
rs1439562437
|
0.00001
|
|
NM_005343.4(HRAS):c.536C>T (p.Pro179Leu)
|
rs760429548
|
0.00001
|
|
NM_005343.4(HRAS):c.538G>A (p.Gly180Ser)
|
rs772602067
|
0.00001
|
|
NM_005343.4(HRAS):c.546G>A (p.Met182Ile)
|
rs748639813
|
0.00001
|
|
NM_005343.4(HRAS):c.566C>T (p.Ser189Phe)
|
rs1851173218
|
0.00001
|
|
NM_005921.2(MAP3K1):c.4258-5T>C
|
rs761483754
|
0.00001
|
|
NM_005921.2(MAP3K1):c.614G>A (p.Arg205Lys)
|
rs768329767
|
0.00001
|
|
NM_006073.4(TRDN):c.1060A>G (p.Lys354Glu)
|
rs761972576
|
0.00001
|
|
NM_006073.4(TRDN):c.1108G>A (p.Ala370Thr)
|
rs1781990629
|
0.00001
|
|
NM_006073.4(TRDN):c.1115A>G (p.Lys372Arg)
|
rs1259355217
|
0.00001
|
|
NM_006073.4(TRDN):c.1130A>G (p.Lys377Arg)
|
rs750876367
|
0.00001
|
|
NM_006073.4(TRDN):c.1148C>T (p.Thr383Ile)
|
rs780744224
|
0.00001
|
|
NM_006073.4(TRDN):c.1165G>T (p.Val389Leu)
|
rs768208179
|
0.00001
|
|
NM_006073.4(TRDN):c.1222A>G (p.Lys408Glu)
|
rs771278361
|
0.00001
|
|
NM_006073.4(TRDN):c.1249C>G (p.Pro417Ala)
|
rs773700571
|
0.00001
|
|
NM_006073.4(TRDN):c.1273+4T>C
|
rs1261345499
|
0.00001
|
|
NM_006073.4(TRDN):c.1274-6T>A
|
rs1034356533
|
0.00001
|
|
NM_006073.4(TRDN):c.1283G>A (p.Arg428Gln)
|
rs371336992
|
0.00001
|
|
NM_006073.4(TRDN):c.1286C>A (p.Ala429Asp)
|
rs1297242196
|
0.00001
|
|
NM_006073.4(TRDN):c.128C>T (p.Thr43Met)
|
rs748832633
|
0.00001
|
|
NM_006073.4(TRDN):c.1321+1G>A
|
rs775407481
|
0.00001
|
|
NM_006073.4(TRDN):c.1321+2T>C
|
rs772232730
|
0.00001
|
|
NM_006073.4(TRDN):c.134G>T (p.Ser45Ile)
|
rs748395950
|
0.00001
|
|
NM_006073.4(TRDN):c.1393A>G (p.Lys465Glu)
|
rs1779922492
|
0.00001
|
|
NM_006073.4(TRDN):c.1395G>C (p.Lys465Asn)
|
rs1323480717
|
0.00001
|
|
NM_006073.4(TRDN):c.1420+2T>C
|
rs1197905831
|
0.00001
|
|
NM_006073.4(TRDN):c.1487A>T (p.Lys496Ile)
|
rs1219920478
|
0.00001
|
|
NM_006073.4(TRDN):c.1501T>A (p.Ser501Thr)
|
rs370559465
|
0.00001
|
|
NM_006073.4(TRDN):c.1537+5G>A
|
rs1418472166
|
0.00001
|
|
NM_006073.4(TRDN):c.1537C>A (p.Gln513Lys)
|
rs757355311
|
0.00001
|
|
NM_006073.4(TRDN):c.1567+2T>C
|
rs1384476992
|
0.00001
|
|
NM_006073.4(TRDN):c.1569G>T (p.Glu523Asp)
|
rs1395279008
|
0.00001
|
|
NM_006073.4(TRDN):c.1622A>G (p.His541Arg)
|
rs919195476
|
0.00001
|
|
NM_006073.4(TRDN):c.1624+3A>G
|
rs917121544
|
0.00001
|
|
NM_006073.4(TRDN):c.1631A>T (p.Asp544Val)
|
rs1417883411
|
0.00001
|
|
NM_006073.4(TRDN):c.1660C>G (p.His554Asp)
|
rs749072053
|
0.00001
|
|
NM_006073.4(TRDN):c.1673-3C>G
|
rs762200112
|
0.00001
|
|
NM_006073.4(TRDN):c.1682T>A (p.Val561Asp)
|
rs947096255
|
0.00001
|
|
NM_006073.4(TRDN):c.1690C>G (p.Gln564Glu)
|
rs892905883
|
0.00001
|
|
NM_006073.4(TRDN):c.1765C>A (p.Pro589Thr)
|
rs374035597
|
0.00001
|
|
NM_006073.4(TRDN):c.1766C>A (p.Pro589His)
|
rs371717903
|
0.00001
|
|
NM_006073.4(TRDN):c.17C>T (p.Ala6Val)
|
rs764897557
|
0.00001
|
|
NM_006073.4(TRDN):c.1805-2A>G
|
rs1417676099
|
0.00001
|
|
NM_006073.4(TRDN):c.1819G>C (p.Val607Leu)
|
rs775485689
|
0.00001
|
|
NM_006073.4(TRDN):c.1853C>T (p.Ser618Phe)
|
rs1270608603
|
0.00001
|
|
NM_006073.4(TRDN):c.1870+5A>T
|
rs1041234944
|
0.00001
|
|
NM_006073.4(TRDN):c.1879G>C (p.Asp627His)
|
rs997711349
|
0.00001
|
|
NM_006073.4(TRDN):c.1904A>G (p.Lys635Arg)
|
rs1179112140
|
0.00001
|
|
NM_006073.4(TRDN):c.1952-6T>A
|
rs1452400104
|
0.00001
|
|
NM_006073.4(TRDN):c.1954G>A (p.Glu652Lys)
|
rs1194412303
|
0.00001
|
|
NM_006073.4(TRDN):c.1976-3T>C
|
rs934486291
|
0.00001
|
|
NM_006073.4(TRDN):c.2027A>G (p.Asp676Gly)
|
rs1775147117
|
0.00001
|
|
NM_006073.4(TRDN):c.2060G>A (p.Ser687Asn)
|
rs1188001301
|
0.00001
|
|
NM_006073.4(TRDN):c.2074G>A (p.Val692Ile)
|
rs1208049678
|
0.00001
|
|
NM_006073.4(TRDN):c.2087G>A (p.Gly696Glu)
|
rs770748006
|
0.00001
|
|
NM_006073.4(TRDN):c.2092A>C (p.Asn698His)
|
rs777779916
|
0.00001
|
|
NM_006073.4(TRDN):c.2122C>T (p.Pro708Ser)
|
rs751278695
|
0.00001
|
|
NM_006073.4(TRDN):c.2176C>T (p.Gln726Ter)
|
rs1414689230
|
0.00001
|
|
NM_006073.4(TRDN):c.22+4T>C
|
rs757565507
|
0.00001
|
|
NM_006073.4(TRDN):c.232+6T>G
|
rs747825904
|
0.00001
|
|
NM_006073.4(TRDN):c.310T>A (p.Tyr104Asn)
|
rs566714157
|
0.00001
|
|
NM_006073.4(TRDN):c.311A>G (p.Tyr104Cys)
|
rs1345111830
|
0.00001
|
|
NM_006073.4(TRDN):c.335A>T (p.Asp112Val)
|
rs772376488
|
0.00001
|
|
NM_006073.4(TRDN):c.360A>T (p.Glu120Asp)
|
rs1433101332
|
0.00001
|
|
NM_006073.4(TRDN):c.371G>A (p.Gly124Asp)
|
rs1781225730
|
0.00001
|
|
NM_006073.4(TRDN):c.398T>C (p.Ile133Thr)
|
rs1218113277
|
0.00001
|
|
NM_006073.4(TRDN):c.463G>A (p.Glu155Lys)
|
rs1386718060
|
0.00001
|
|
NM_006073.4(TRDN):c.482A>C (p.Lys161Thr)
|
rs886039003
|
0.00001
|
|
NM_006073.4(TRDN):c.527A>T (p.Glu176Val)
|
rs1174526334
|
0.00001
|
|
NM_006073.4(TRDN):c.558C>A (p.His186Gln)
|
rs1173699706
|
0.00001
|
|
NM_006073.4(TRDN):c.604G>A (p.Ala202Thr)
|
rs1335196025
|
0.00001
|
|
NM_006073.4(TRDN):c.652A>C (p.Thr218Pro)
|
rs1778805040
|
0.00001
|
|
NM_006073.4(TRDN):c.665T>G (p.Val222Gly)
|
rs758037868
|
0.00001
|
|
NM_006073.4(TRDN):c.754G>T (p.Asp252Tyr)
|
rs749401047
|
0.00001
|
|
NM_006073.4(TRDN):c.755A>G (p.Asp252Gly)
|
rs969285752
|
0.00001
|
|
NM_006073.4(TRDN):c.762G>C (p.Glu254Asp)
|
rs746983339
|
0.00001
|
|
NM_006073.4(TRDN):c.811C>T (p.Arg271Ter)
|
rs1201954479
|
0.00001
|
|
NM_006073.4(TRDN):c.812G>A (p.Arg271Gln)
|
rs772783444
|
0.00001
|
|
NM_006073.4(TRDN):c.826A>G (p.Ile276Val)
|
rs150412658
|
0.00001
|
|
NM_006073.4(TRDN):c.851C>G (p.Pro284Arg)
|
rs755534468
|
0.00001
|
|
NM_006073.4(TRDN):c.853+3A>G
|
rs372783263
|
0.00001
|
|
NM_006073.4(TRDN):c.853+6C>A
|
rs1331217957
|
0.00001
|
|
NM_006073.4(TRDN):c.902G>A (p.Arg301Lys)
|
rs780453421
|
0.00001
|
|
NM_006073.4(TRDN):c.911C>T (p.Pro304Leu)
|
rs750105528
|
0.00001
|
|
NM_006073.4(TRDN):c.931+6T>C
|
rs913713029
|
0.00001
|
|
NM_006073.4(TRDN):c.947A>G (p.Lys316Arg)
|
rs1200632068
|
0.00001
|
|
NM_006073.4(TRDN):c.949A>G (p.Lys317Glu)
|
rs138624936
|
0.00001
|
|
NM_006073.4(TRDN):c.990A>G (p.Lys330=)
|
rs941068115
|
0.00001
|
|
NM_006073.4(TRDN):c.991+3A>G
|
rs961504074
|
0.00001
|
|
NM_006270.5(RRAS):c.11G>C (p.Gly4Ala)
|
rs1201865280
|
0.00001
|
|
NM_006270.5(RRAS):c.153+3A>G
|
rs200100211
|
0.00001
|
|
NM_006270.5(RRAS):c.158A>T (p.Tyr53Phe)
|
rs908791453
|
0.00001
|
|
NM_006270.5(RRAS):c.167C>G (p.Ser56Cys)
|
rs537601977
|
0.00001
|
|
NM_006270.5(RRAS):c.200C>T (p.Thr67Met)
|
rs778415296
|
0.00001
|
|
NM_006270.5(RRAS):c.233G>A (p.Arg78Gln)
|
rs1162722748
|
0.00001
|
|
NM_006270.5(RRAS):c.296G>A (p.Arg99His)
|
rs1287689249
|
0.00001
|
|
NM_006270.5(RRAS):c.325G>A (p.Ala109Thr)
|
rs1358894507
|
0.00001
|
|
NM_006270.5(RRAS):c.394C>T (p.Arg132Cys)
|
rs773258112
|
0.00001
|
|
NM_006270.5(RRAS):c.422G>C (p.Gly141Ala)
|
rs369240501
|
0.00001
|
|
NM_006270.5(RRAS):c.427A>T (p.Lys143Ter)
|
rs896071517
|
0.00001
|
|
NM_006270.5(RRAS):c.448C>T (p.Arg150Cys)
|
rs767209383
|
0.00001
|
|
NM_006270.5(RRAS):c.453+4C>T
|
rs774803334
|
0.00001
|
|
NM_006270.5(RRAS):c.457C>A (p.Pro153Thr)
|
rs1423079476
|
0.00001
|
|
NM_006270.5(RRAS):c.496G>A (p.Val166Met)
|
rs151171681
|
0.00001
|
|
NM_006270.5(RRAS):c.509A>G (p.Glu170Gly)
|
rs1162824119
|
0.00001
|
|
NM_006270.5(RRAS):c.515C>T (p.Ser172Leu)
|
rs754342165
|
0.00001
|
|
NM_006270.5(RRAS):c.527G>A (p.Arg176His)
|
rs556200895
|
0.00001
|
|
NM_006270.5(RRAS):c.535G>A (p.Val179Met)
|
rs769754956
|
0.00001
|
|
NM_006270.5(RRAS):c.53G>A (p.Gly18Glu)
|
rs1447937831
|
0.00001
|
|
NM_006270.5(RRAS):c.562C>T (p.Arg188Trp)
|
rs538230538
|
0.00001
|
|
NM_006270.5(RRAS):c.614C>T (p.Ala205Val)
|
rs1043558932
|
0.00001
|
|
NM_006270.5(RRAS):c.61C>T (p.Pro21Ser)
|
rs1166281308
|
0.00001
|
|
NM_006270.5(RRAS):c.74C>T (p.Pro25Leu)
|
rs558985706
|
0.00001
|
|
NM_006284.4(TAF10):c.*1024_*1072dup
|
rs1392922443
|
0.00001
|
|
NM_006284.4(TAF10):c.*2708T>C
|
rs1440217863
|
0.00001
|
|
NM_006393.3(NEBL):c.1003A>C (p.Ser335Arg)
|
rs771769135
|
0.00001
|
|
NM_006393.3(NEBL):c.103G>A (p.Glu35Lys)
|
rs878854902
|
0.00001
|
|
NM_006393.3(NEBL):c.1079A>T (p.Tyr360Phe)
|
rs1317887456
|
0.00001
|
|
NM_006393.3(NEBL):c.1130A>G (p.Glu377Gly)
|
rs373129570
|
0.00001
|
|
NM_006393.3(NEBL):c.1144G>A (p.Glu382Lys)
|
rs749629919
|
0.00001
|
|
NM_006393.3(NEBL):c.1207A>G (p.Ile403Val)
|
rs200534792
|
0.00001
|
|
NM_006393.3(NEBL):c.1208T>C (p.Ile403Thr)
|
rs766378863
|
0.00001
|
|
NM_006393.3(NEBL):c.1246T>G (p.Leu416Val)
|
rs1473800986
|
0.00001
|
|
NM_006393.3(NEBL):c.1367T>C (p.Ile456Thr)
|
rs761169055
|
0.00001
|
|
NM_006393.3(NEBL):c.1441G>A (p.Ala481Thr)
|
rs1291010559
|
0.00001
|
|
NM_006393.3(NEBL):c.1442C>T (p.Ala481Val)
|
rs1237891829
|
0.00001
|
|
NM_006393.3(NEBL):c.149G>A (p.Ser50Asn)
|
rs1207801626
|
0.00001
|
|
NM_006393.3(NEBL):c.153+5G>A
|
rs766864066
|
0.00001
|
|
NM_006393.3(NEBL):c.1541C>T (p.Ala514Val)
|
rs1256153819
|
0.00001
|
|
NM_006393.3(NEBL):c.1543T>A (p.Ser515Thr)
|
rs990217100
|
0.00001
|
|
NM_006393.3(NEBL):c.1546G>A (p.Glu516Lys)
|
rs45461595
|
0.00001
|
|
NM_006393.3(NEBL):c.1549A>G (p.Met517Val)
|
rs1430856878
|
0.00001
|
|
NM_006393.3(NEBL):c.157C>T (p.Arg53Cys)
|
rs759216770
|
0.00001
|
|
NM_006393.3(NEBL):c.1608G>T (p.Met536Ile)
|
rs794729078
|
0.00001
|
|
NM_006393.3(NEBL):c.1611A>C (p.Gln537His)
|
rs865956162
|
0.00001
|
|
NM_006393.3(NEBL):c.1613T>A (p.Val538Glu)
|
rs534382445
|
0.00001
|
|
NM_006393.3(NEBL):c.1773T>G (p.Ser591Arg)
|
rs1206155356
|
0.00001
|
|
NM_006393.3(NEBL):c.1776G>A (p.Ala592=)
|
rs113406843
|
0.00001
|
|
NM_006393.3(NEBL):c.1826C>G (p.Pro609Arg)
|
rs942030467
|
0.00001
|
|
NM_006393.3(NEBL):c.1879A>G (p.Lys627Glu)
|
rs766695780
|
0.00001
|
|
NM_006393.3(NEBL):c.1961A>T (p.Asn654Ile)
|
rs1839521789
|
0.00001
|
|
NM_006393.3(NEBL):c.1993A>C (p.Thr665Pro)
|
rs936216558
|
0.00001
|
|
NM_006393.3(NEBL):c.1996C>T (p.Pro666Ser)
|
rs772963438
|
0.00001
|
|
NM_006393.3(NEBL):c.2002A>G (p.Ser668Gly)
|
rs774221912
|
0.00001
|
|
NM_006393.3(NEBL):c.2033G>A (p.Arg678Gln)
|
rs774294999
|
0.00001
|
|
NM_006393.3(NEBL):c.2105C>T (p.Pro702Leu)
|
rs1838860400
|
0.00001
|
|
NM_006393.3(NEBL):c.2174G>C (p.Arg725Thr)
|
rs772956028
|
0.00001
|
|
NM_006393.3(NEBL):c.2241+6T>C
|
rs757456889
|
0.00001
|
|
NM_006393.3(NEBL):c.2297A>T (p.Asp766Val)
|
rs1479921102
|
0.00001
|
|
NM_006393.3(NEBL):c.2308A>G (p.Met770Val)
|
rs745738658
|
0.00001
|
|
NM_006393.3(NEBL):c.2390T>C (p.Phe797Ser)
|
rs1838312385
|
0.00001
|
|
NM_006393.3(NEBL):c.2407G>A (p.Asp803Asn)
|
rs774594552
|
0.00001
|
|
NM_006393.3(NEBL):c.242G>C (p.Gly81Ala)
|
rs1442801795
|
0.00001
|
|
NM_006393.3(NEBL):c.2507G>A (p.Gly836Glu)
|
rs768915725
|
0.00001
|
|
NM_006393.3(NEBL):c.2513T>C (p.Ile838Thr)
|
rs749452317
|
0.00001
|
|
NM_006393.3(NEBL):c.2588C>G (p.Ser863Cys)
|
rs150152361
|
0.00001
|
|
NM_006393.3(NEBL):c.2602A>G (p.Met868Val)
|
rs908360300
|
0.00001
|
|
NM_006393.3(NEBL):c.2611+6A>G
|
rs762305537
|
0.00001
|
|
NM_006393.3(NEBL):c.2668G>A (p.Gly890Ser)
|
rs756192561
|
0.00001
|
|
NM_006393.3(NEBL):c.2681G>A (p.Gly894Glu)
|
rs876657926
|
0.00001
|
|
NM_006393.3(NEBL):c.2704G>A (p.Glu902Lys)
|
rs761425280
|
0.00001
|
|
NM_006393.3(NEBL):c.2761G>C (p.Ala921Pro)
|
rs1057518516
|
0.00001
|
|
NM_006393.3(NEBL):c.2914G>A (p.Glu972Lys)
|
rs1554769095
|
0.00001
|
|
NM_006393.3(NEBL):c.2959A>G (p.Ile987Val)
|
rs746298728
|
0.00001
|
|
NM_006393.3(NEBL):c.2T>C (p.Met1Thr)
|
rs972622200
|
0.00001
|
|
NM_006393.3(NEBL):c.3028A>G (p.Ile1010Val)
|
rs1400947444
|
0.00001
|
|
NM_006393.3(NEBL):c.325A>G (p.Ile109Val)
|
rs750081149
|
0.00001
|
|
NM_006393.3(NEBL):c.340G>T (p.Ala114Ser)
|
rs996144249
|
0.00001
|
|
NM_006393.3(NEBL):c.463A>G (p.Asn155Asp)
|
rs1344682606
|
0.00001
|
|
NM_006393.3(NEBL):c.640C>G (p.Pro214Ala)
|
rs1392632186
|
0.00001
|
|
NM_006393.3(NEBL):c.684A>G (p.Gln228=)
|
rs533225203
|
0.00001
|
|
NM_006393.3(NEBL):c.685-1G>C
|
rs1843486814
|
0.00001
|
|
NM_006393.3(NEBL):c.686T>C (p.Ile229Thr)
|
rs774523404
|
0.00001
|
|
NM_006393.3(NEBL):c.743C>T (p.Pro248Leu)
|
rs1409547551
|
0.00001
|
|
NM_006393.3(NEBL):c.798T>C (p.Asn266=)
|
rs770019579
|
0.00001
|
|
NM_006393.3(NEBL):c.799-4A>G
|
rs773699320
|
0.00001
|
|
NM_006393.3(NEBL):c.834T>A (p.Asp278Glu)
|
rs562939997
|
0.00001
|
|
NM_006393.3(NEBL):c.857T>A (p.Leu286Ter)
|
rs752717041
|
0.00001
|
|
NM_006393.3(NEBL):c.901G>A (p.Gly301Ser)
|
rs773469997
|
0.00001
|
|
NM_006393.3(NEBL):c.903+2dup
|
rs1473850704
|
0.00001
|
|
NM_006393.3(NEBL):c.986G>T (p.Gly329Val)
|
rs776185255
|
0.00001
|
|
NM_006393.3(NEBL):c.989A>G (p.Asn330Ser)
|
rs876657927
|
0.00001
|
|
NM_006440.5(TXNRD2):c.1078G>A (p.Val360Met)
|
rs747350610
|
0.00001
|
|
NM_006440.5(TXNRD2):c.1086+4C>T
|
rs753380240
|
0.00001
|
|
NM_006440.5(TXNRD2):c.1087-2A>G
|
rs1289412583
|
0.00001
|
|
NM_006440.5(TXNRD2):c.113G>A (p.Arg38Gln)
|
rs777384922
|
0.00001
|
|
NM_006440.5(TXNRD2):c.1156T>C (p.Ser386Pro)
|
rs960610186
|
0.00001
|
|
NM_006440.5(TXNRD2):c.1169T>G (p.Met390Arg)
|
rs758236709
|
0.00001
|
|
NM_006440.5(TXNRD2):c.1214A>G (p.Tyr405Cys)
|
rs934895346
|
0.00001
|
|
NM_006440.5(TXNRD2):c.1234G>A (p.Glu412Lys)
|
rs781432469
|
0.00001
|
|
NM_006440.5(TXNRD2):c.1285G>A (p.Ala429Thr)
|
rs767323099
|
0.00001
|
|
NM_006440.5(TXNRD2):c.1289A>C (p.His430Pro)
|
rs376463546
|
0.00001
|
|
NM_006440.5(TXNRD2):c.1331C>G (p.Ser444Cys)
|
rs749643976
|
0.00001
|
|
NM_006440.5(TXNRD2):c.1412G>A (p.Gly471Asp)
|
rs754916024
|
0.00001
|
|
NM_006440.5(TXNRD2):c.1414G>A (p.Glu472Lys)
|
rs766076027
|
0.00001
|
|
NM_006440.5(TXNRD2):c.1417G>A (p.Val473Ile)
|
rs760570314
|
0.00001
|
|
NM_006440.5(TXNRD2):c.1460A>G (p.Tyr487Cys)
|
rs367711380
|
0.00001
|
|
NM_006440.5(TXNRD2):c.1465C>T (p.Gln489Ter)
|
rs759650391
|
0.00001
|
|
NM_006440.5(TXNRD2):c.1480G>A (p.Val494Met)
|
rs762203465
|
0.00001
|
|
NM_006440.5(TXNRD2):c.172+3A>G
|
rs923193498
|
0.00001
|
|
NM_006440.5(TXNRD2):c.172G>A (p.Ala58Thr)
|
rs764378793
|
0.00001
|
|
NM_006440.5(TXNRD2):c.224C>T (p.Pro75Leu)
|
rs888739263
|
0.00001
|
|
NM_006440.5(TXNRD2):c.238T>C (p.Trp80Arg)
|
rs762714876
|
0.00001
|
|
NM_006440.5(TXNRD2):c.338A>G (p.Tyr113Cys)
|
rs905391308
|
0.00001
|
|
NM_006440.5(TXNRD2):c.380A>G (p.Lys127Arg)
|
rs753524446
|
0.00001
|
|
NM_006440.5(TXNRD2):c.395T>C (p.Val132Ala)
|
rs1449070418
|
0.00001
|
|
NM_006440.5(TXNRD2):c.430C>T (p.Arg144Cys)
|
rs749157073
|
0.00001
|
|
NM_006440.5(TXNRD2):c.449G>A (p.Arg150Lys)
|
rs755356370
|
0.00001
|
|
NM_006440.5(TXNRD2):c.450-1G>A
|
rs755703700
|
0.00001
|
|
NM_006440.5(TXNRD2):c.46C>T (p.Arg16Trp)
|
rs777650793
|
0.00001
|
|
NM_006440.5(TXNRD2):c.497C>T (p.Thr166Met)
|
rs553337931
|
0.00001
|
|
NM_006440.5(TXNRD2):c.508G>A (p.Val170Ile)
|
rs574389555
|
0.00001
|
|
NM_006440.5(TXNRD2):c.529A>G (p.Ile177Val)
|
rs373970291
|
0.00001
|
|
NM_006440.5(TXNRD2):c.575C>T (p.Pro192Leu)
|
rs747572047
|
0.00001
|
|
NM_006440.5(TXNRD2):c.587C>T (p.Thr196Met)
|
rs531899091
|
0.00001
|
|
NM_006440.5(TXNRD2):c.589C>G (p.His197Asp)
|
rs762695606
|
0.00001
|
|
NM_006440.5(TXNRD2):c.591C>T (p.His197=)
|
rs543644944
|
0.00001
|
|
NM_006440.5(TXNRD2):c.662+1G>A
|
rs1317400468
|
0.00001
|
|
NM_006440.5(TXNRD2):c.715G>A (p.Gly239Arg)
|
rs978493213
|
0.00001
|
|
NM_006440.5(TXNRD2):c.720T>G (p.Ile240Met)
|
rs1246351128
|
0.00001
|
|
NM_006440.5(TXNRD2):c.746G>A (p.Arg249His)
|
rs760799626
|
0.00001
|
|
NM_006440.5(TXNRD2):c.775C>A (p.Gln259Lys)
|
rs1939470316
|
0.00001
|
|
NM_006440.5(TXNRD2):c.845C>T (p.Ser282Leu)
|
rs368200536
|
0.00001
|
|
NM_006440.5(TXNRD2):c.860T>G (p.Leu287Arg)
|
rs989125451
|
0.00001
|
|
NM_006440.5(TXNRD2):c.88G>T (p.Ala30Ser)
|
rs1315091228
|
0.00001
|
|
NM_006440.5(TXNRD2):c.904G>A (p.Gly302Ser)
|
rs781228620
|
0.00001
|
|
NM_006440.5(TXNRD2):c.905G>A (p.Gly302Asp)
|
rs757519340
|
0.00001
|
|
NM_006440.5(TXNRD2):c.949+3A>G
|
rs770435568
|
0.00001
|
|
NM_006440.5(TXNRD2):c.965C>A (p.Thr322Asn)
|
rs752178604
|
0.00001
|
|
NM_006912.6(RIT1):c.13A>T (p.Thr5Ser)
|
rs771768320
|
0.00001
|
|
NM_006912.6(RIT1):c.140C>T (p.Pro47Leu)
|
rs747376042
|
0.00001
|
|
NM_006912.6(RIT1):c.163+6C>A
|
rs1157450415
|
0.00001
|
|
NM_006912.6(RIT1):c.208A>T (p.Asn70Tyr)
|
rs1394425355
|
0.00001
|
|
NM_006912.6(RIT1):c.257G>A (p.Arg86Gln)
|
rs1185965337
|
0.00001
|
|
NM_006912.6(RIT1):c.326A>G (p.His109Arg)
|
rs1407666045
|
0.00001
|
|
NM_006912.6(RIT1):c.334C>T (p.Arg112Cys)
|
rs375724784
|
0.00001
|
|
NM_006912.6(RIT1):c.35G>A (p.Cys12Tyr)
|
rs1177306699
|
0.00001
|
|
NM_006912.6(RIT1):c.461G>A (p.Arg154Gln)
|
rs754596127
|
0.00001
|
|
NM_006912.6(RIT1):c.46G>A (p.Ala16Thr)
|
rs1131692009
|
0.00001
|
|
NM_006912.6(RIT1):c.500A>G (p.Tyr167Cys)
|
rs1372704169
|
0.00001
|
|
NM_006912.6(RIT1):c.539G>A (p.Arg180Gln)
|
rs760845441
|
0.00001
|
|
NM_006912.6(RIT1):c.548G>A (p.Arg183His)
|
rs1673291082
|
0.00001
|
|
NM_006912.6(RIT1):c.575C>T (p.Ala192Val)
|
rs376391961
|
0.00001
|
|
NM_006939.4(SOS2):c.1000C>T (p.Arg334Cys)
|
rs1364027643
|
0.00001
|
|
NM_006939.4(SOS2):c.1009C>A (p.Leu337Ile)
|
rs1204583343
|
0.00001
|
|
NM_006939.4(SOS2):c.1121C>A (p.Ala374Asp)
|
rs1447501425
|
0.00001
|
|
NM_006939.4(SOS2):c.1146A>G (p.Gln382=)
|
rs1178247373
|
0.00001
|
|
NM_006939.4(SOS2):c.1197-3T>C
|
rs1252986580
|
0.00001
|
|
NM_006939.4(SOS2):c.1273A>G (p.Lys425Glu)
|
rs372203654
|
0.00001
|
|
NM_006939.4(SOS2):c.1312T>C (p.Cys438Arg)
|
rs368795570
|
0.00001
|
|
NM_006939.4(SOS2):c.1430G>A (p.Arg477Gln)
|
rs139953230
|
0.00001
|
|
NM_006939.4(SOS2):c.1557G>C (p.Glu519Asp)
|
rs1884935096
|
0.00001
|
|
NM_006939.4(SOS2):c.1615C>T (p.Leu539Phe)
|
rs781687371
|
0.00001
|
|
NM_006939.4(SOS2):c.1633C>T (p.Arg545Cys)
|
rs148019428
|
0.00001
|
|
NM_006939.4(SOS2):c.1747A>G (p.Asn583Asp)
|
rs1388854755
|
0.00001
|
|
NM_006939.4(SOS2):c.1859A>G (p.Asn620Ser)
|
rs772156276
|
0.00001
|
|
NM_006939.4(SOS2):c.1973A>G (p.Lys658Arg)
|
rs1317956888
|
0.00001
|
|
NM_006939.4(SOS2):c.2068G>A (p.Val690Ile)
|
rs766745289
|
0.00001
|
|
NM_006939.4(SOS2):c.2245A>G (p.Asn749Asp)
|
rs764992819
|
0.00001
|
|
NM_006939.4(SOS2):c.2255T>A (p.Phe752Tyr)
|
rs1392882497
|
0.00001
|
|
NM_006939.4(SOS2):c.2269C>T (p.Pro757Ser)
|
rs775139330
|
0.00001
|
|
NM_006939.4(SOS2):c.2443A>G (p.Asn815Asp)
|
rs886041958
|
0.00001
|
|
NM_006939.4(SOS2):c.2471G>A (p.Arg824His)
|
rs1433825913
|
0.00001
|
|
NM_006939.4(SOS2):c.2602G>A (p.Gly868Ser)
|
rs751419448
|
0.00001
|
|
NM_006939.4(SOS2):c.2657A>G (p.His886Arg)
|
rs775815870
|
0.00001
|
|
NM_006939.4(SOS2):c.2722G>A (p.Asp908Asn)
|
rs957376198
|
0.00001
|
|
NM_006939.4(SOS2):c.2849G>A (p.Gly950Glu)
|
rs765330931
|
0.00001
|
|
NM_006939.4(SOS2):c.2957G>A (p.Arg986Lys)
|
rs772746106
|
0.00001
|
|
NM_006939.4(SOS2):c.2985G>A (p.Met995Ile)
|
rs746630297
|
0.00001
|
|
NM_006939.4(SOS2):c.3026A>G (p.Asn1009Ser)
|
rs779413196
|
0.00001
|
|
NM_006939.4(SOS2):c.3056G>A (p.Cys1019Tyr)
|
rs1883997609
|
0.00001
|
|
NM_006939.4(SOS2):c.3076-3C>T
|
rs1293540485
|
0.00001
|
|
NM_006939.4(SOS2):c.3149G>T (p.Gly1050Val)
|
rs1012247714
|
0.00001
|
|
NM_006939.4(SOS2):c.3215C>T (p.Ala1072Val)
|
rs1798276045
|
0.00001
|
|
NM_006939.4(SOS2):c.3266C>A (p.Pro1089Gln)
|
rs1409054252
|
0.00001
|
|
NM_006939.4(SOS2):c.3275C>T (p.Pro1092Leu)
|
rs1442962879
|
0.00001
|
|
NM_006939.4(SOS2):c.3277C>T (p.Pro1093Ser)
|
rs755233845
|
0.00001
|
|
NM_006939.4(SOS2):c.3356C>T (p.Ala1119Val)
|
rs376113934
|
0.00001
|
|
NM_006939.4(SOS2):c.346-3C>T
|
rs758131262
|
0.00001
|
|
NM_006939.4(SOS2):c.3571G>C (p.Val1191Leu)
|
rs934357386
|
0.00001
|
|
NM_006939.4(SOS2):c.3619C>T (p.Pro1207Ser)
|
rs1883398374
|
0.00001
|
|
NM_006939.4(SOS2):c.362A>G (p.Lys121Arg)
|
rs1456011298
|
0.00001
|
|
NM_006939.4(SOS2):c.3761C>G (p.Thr1254Arg)
|
rs772587016
|
0.00001
|
|
NM_006939.4(SOS2):c.3793A>G (p.Thr1265Ala)
|
rs1053118797
|
0.00001
|
|
NM_006939.4(SOS2):c.3845A>G (p.Asn1282Ser)
|
rs376158218
|
0.00001
|
|
NM_006939.4(SOS2):c.533A>C (p.Gln178Pro)
|
rs1273376869
|
0.00001
|
|
NM_006939.4(SOS2):c.575G>C (p.Ser192Thr)
|
rs1886005182
|
0.00001
|
|
NM_006939.4(SOS2):c.88-17A>G
|
rs776823815
|
0.00001
|
|
NM_012082.4(ZFPM2):c.1693G>T (p.Val565Leu)
|
rs768944942
|
0.00001
|
|
NM_012082.4(ZFPM2):c.2119C>G (p.Gln707Glu)
|
rs765282505
|
0.00001
|
|
NM_012082.4(ZFPM2):c.2650C>T (p.Arg884Cys)
|
rs778808844
|
0.00001
|
|
NM_012082.4(ZFPM2):c.2903A>G (p.Tyr968Cys)
|
rs908430101
|
0.00001
|
|
NM_012082.4(ZFPM2):c.2930G>A (p.Gly977Glu)
|
rs759084301
|
0.00001
|
|
NM_012082.4(ZFPM2):c.2983G>A (p.Gly995Ser)
|
rs779361639
|
0.00001
|
|
NM_013266.4(CTNNA3):c.1000G>A (p.Ala334Thr)
|
rs1195868563
|
0.00001
|
|
NM_013266.4(CTNNA3):c.106A>C (p.Thr36Pro)
|
rs760248318
|
0.00001
|
|
NM_013266.4(CTNNA3):c.1073C>A (p.Thr358Asn)
|
rs751471841
|
0.00001
|
|
NM_013266.4(CTNNA3):c.108del (p.Leu37_Val38insTer)
|
rs1843301169
|
0.00001
|
|
NM_013266.4(CTNNA3):c.1091A>G (p.Asp364Gly)
|
rs753966151
|
0.00001
|
|
NM_013266.4(CTNNA3):c.1094A>G (p.Asn365Ser)
|
rs764419738
|
0.00001
|
|
NM_013266.4(CTNNA3):c.1154T>C (p.Val385Ala)
|
rs149348606
|
0.00001
|
|
NM_013266.4(CTNNA3):c.1172A>T (p.Asp391Val)
|
rs772157953
|
0.00001
|
|
NM_013266.4(CTNNA3):c.1186C>G (p.Leu396Val)
|
rs376091500
|
0.00001
|
|
NM_013266.4(CTNNA3):c.1220G>A (p.Arg407Gln)
|
rs369880246
|
0.00001
|
|
NM_013266.4(CTNNA3):c.1247C>T (p.Ala416Val)
|
rs1032740164
|
0.00001
|
|
NM_013266.4(CTNNA3):c.1256A>G (p.His419Arg)
|
rs1292553472
|
0.00001
|
|
NM_013266.4(CTNNA3):c.1282G>A (p.Val428Met)
|
rs770912324
|
0.00001
|
|
NM_013266.4(CTNNA3):c.130C>G (p.Pro44Ala)
|
rs759426077
|
0.00001
|
|
NM_013266.4(CTNNA3):c.1334T>C (p.Val445Ala)
|
rs954678537
|
0.00001
|
|
NM_013266.4(CTNNA3):c.1382A>G (p.Asn461Ser)
|
rs751206907
|
0.00001
|
|
NM_013266.4(CTNNA3):c.1459G>A (p.Glu487Lys)
|
rs746514516
|
0.00001
|
|
NM_013266.4(CTNNA3):c.1508T>C (p.Ile503Thr)
|
rs770318219
|
0.00001
|
|
NM_013266.4(CTNNA3):c.151C>T (p.Arg51Cys)
|
rs749212121
|
0.00001
|
|
NM_013266.4(CTNNA3):c.1657G>T (p.Gly553Cys)
|
rs371983729
|
0.00001
|
|
NM_013266.4(CTNNA3):c.1724C>G (p.Thr575Arg)
|
rs2092816708
|
0.00001
|
|
NM_013266.4(CTNNA3):c.1733-1G>C
|
rs193155648
|
0.00001
|
|
NM_013266.4(CTNNA3):c.1771G>A (p.Glu591Lys)
|
rs769809500
|
0.00001
|
|
NM_013266.4(CTNNA3):c.1865G>A (p.Cys622Tyr)
|
rs367616357
|
0.00001
|
|
NM_013266.4(CTNNA3):c.1884+5G>A
|
rs766237431
|
0.00001
|
|
NM_013266.4(CTNNA3):c.1894G>A (p.Glu632Lys)
|
rs1060502222
|
0.00001
|
|
NM_013266.4(CTNNA3):c.1955A>G (p.Gln652Arg)
|
rs768222263
|
0.00001
|
|
NM_013266.4(CTNNA3):c.1978-3T>G
|
rs1384475219
|
0.00001
|
|
NM_013266.4(CTNNA3):c.2023G>A (p.Glu675Lys)
|
rs1415628169
|
0.00001
|
|
NM_013266.4(CTNNA3):c.2044A>G (p.Lys682Glu)
|
rs911988614
|
0.00001
|
|
NM_013266.4(CTNNA3):c.2117A>G (p.Lys706Arg)
|
rs758519231
|
0.00001
|
|
NM_013266.4(CTNNA3):c.2122A>G (p.Met708Val)
|
rs148554495
|
0.00001
|
|
NM_013266.4(CTNNA3):c.2126G>A (p.Cys709Tyr)
|
rs1458100029
|
0.00001
|
|
NM_013266.4(CTNNA3):c.214A>G (p.Lys72Glu)
|
rs371997421
|
0.00001
|
|
NM_013266.4(CTNNA3):c.2174T>A (p.Leu725Gln)
|
rs2078479556
|
0.00001
|
|
NM_013266.4(CTNNA3):c.2377G>A (p.Gly793Arg)
|
rs778606956
|
0.00001
|
|
NM_013266.4(CTNNA3):c.2455G>A (p.Val819Met)
|
rs1239218750
|
0.00001
|
|
NM_013266.4(CTNNA3):c.2494A>T (p.Ile832Phe)
|
rs376310020
|
0.00001
|
|
NM_013266.4(CTNNA3):c.2525G>A (p.Arg842Gln)
|
rs780903815
|
0.00001
|
|
NM_013266.4(CTNNA3):c.2575A>T (p.Ile859Phe)
|
rs766896063
|
0.00001
|
|
NM_013266.4(CTNNA3):c.2616A>C (p.Arg872Ser)
|
rs775103016
|
0.00001
|
|
NM_013266.4(CTNNA3):c.2630A>C (p.Lys877Thr)
|
rs781167292
|
0.00001
|
|
NM_013266.4(CTNNA3):c.313G>T (p.Ala105Ser)
|
rs1261483627
|
0.00001
|
|
NM_013266.4(CTNNA3):c.323T>C (p.Phe108Ser)
|
rs1206597536
|
0.00001
|
|
NM_013266.4(CTNNA3):c.334C>T (p.Pro112Ser)
|
rs1485074194
|
0.00001
|
|
NM_013266.4(CTNNA3):c.362T>A (p.Val121Glu)
|
rs1840603727
|
0.00001
|
|
NM_013266.4(CTNNA3):c.373G>T (p.Ala125Ser)
|
rs550249818
|
0.00001
|
|
NM_013266.4(CTNNA3):c.392C>T (p.Ala131Val)
|
rs774544494
|
0.00001
|
|
NM_013266.4(CTNNA3):c.416C>T (p.Ala139Val)
|
rs528701683
|
0.00001
|
|
NM_013266.4(CTNNA3):c.425T>C (p.Ile142Thr)
|
rs769116433
|
0.00001
|
|
NM_013266.4(CTNNA3):c.623G>A (p.Arg208Gln)
|
rs369420715
|
0.00001
|
|
NM_013266.4(CTNNA3):c.646C>T (p.Pro216Ser)
|
rs768170868
|
0.00001
|
|
NM_013266.4(CTNNA3):c.682C>T (p.His228Tyr)
|
rs1342375122
|
0.00001
|
|
NM_013266.4(CTNNA3):c.694G>C (p.Ala232Pro)
|
rs1277837578
|
0.00001
|
|
NM_013266.4(CTNNA3):c.767C>T (p.Ser256Leu)
|
rs1864559262
|
0.00001
|
|
NM_013266.4(CTNNA3):c.770A>G (p.Gln257Arg)
|
rs767234618
|
0.00001
|
|
NM_013266.4(CTNNA3):c.851T>C (p.Ile284Thr)
|
rs1385868561
|
0.00001
|
|
NM_013266.4(CTNNA3):c.889C>T (p.Arg297Ter)
|
rs771161312
|
0.00001
|
|
NM_013266.4(CTNNA3):c.957T>A (p.Cys319Ter)
|
rs1862472784
|
0.00001
|
|
NM_013266.4(CTNNA3):c.967T>A (p.Leu323Ile)
|
rs113836576
|
0.00001
|
|
NM_013266.4(CTNNA3):c.974G>A (p.Arg325Gln)
|
rs773609785
|
0.00001
|
|
NM_013266.4(CTNNA3):c.986T>C (p.Ile329Thr)
|
rs181929603
|
0.00001
|
|
NM_013266.4(CTNNA3):c.99G>A (p.Gln33=)
|
rs1230378653
|
0.00001
|
|
NM_014000.3(VCL):c.1006G>A (p.Ala336Thr)
|
rs565546734
|
0.00001
|
|
NM_014000.3(VCL):c.1022+3A>T
|
rs201949733
|
0.00001
|
|
NM_014000.3(VCL):c.103A>G (p.Lys35Glu)
|
rs139329923
|
0.00001
|
|
NM_014000.3(VCL):c.1046C>T (p.Ala349Val)
|
rs777709634
|
0.00001
|
|
NM_014000.3(VCL):c.1050G>A (p.Met350Ile)
|
rs771542436
|
0.00001
|
|
NM_014000.3(VCL):c.1058C>T (p.Ala353Val)
|
rs1277485914
|
0.00001
|
|
NM_014000.3(VCL):c.1105A>G (p.Asn369Asp)
|
rs1421516056
|
0.00001
|
|
NM_014000.3(VCL):c.1114C>T (p.Arg372Cys)
|
rs770954415
|
0.00001
|
|
NM_014000.3(VCL):c.1147A>G (p.Ser383Gly)
|
rs1444969965
|
0.00001
|
|
NM_014000.3(VCL):c.1223T>C (p.Ile408Thr)
|
rs878854969
|
0.00001
|
|
NM_014000.3(VCL):c.1226G>A (p.Arg409Gln)
|
rs1018998675
|
0.00001
|
|
NM_014000.3(VCL):c.1229G>A (p.Gly410Asp)
|
rs1064796607
|
0.00001
|
|
NM_014000.3(VCL):c.1238C>T (p.Ala413Val)
|
rs794729190
|
0.00001
|
|
NM_014000.3(VCL):c.1246C>T (p.Arg416Trp)
|
rs746004026
|
0.00001
|
|
NM_014000.3(VCL):c.1268A>G (p.Asp423Gly)
|
rs769504902
|
0.00001
|
|
NM_014000.3(VCL):c.1292T>G (p.Ile431Ser)
|
rs766192312
|
0.00001
|
|
NM_014000.3(VCL):c.1298G>A (p.Arg433His)
|
rs754046223
|
0.00001
|
|
NM_014000.3(VCL):c.1301C>A (p.Ser434Tyr)
|
rs757541730
|
0.00001
|
|
NM_014000.3(VCL):c.1309G>A (p.Glu437Lys)
|
rs765607137
|
0.00001
|
|
NM_014000.3(VCL):c.1382C>G (p.Ala461Gly)
|
rs886038800
|
0.00001
|
|
NM_014000.3(VCL):c.1433A>G (p.Asn478Ser)
|
rs763235691
|
0.00001
|
|
NM_014000.3(VCL):c.1435C>T (p.Arg479Trp)
|
rs369055603
|
0.00001
|
|
NM_014000.3(VCL):c.1436G>A (p.Arg479Gln)
|
rs1271589037
|
0.00001
|
|
NM_014000.3(VCL):c.1465G>A (p.Ala489Thr)
|
rs1449290312
|
0.00001
|
|
NM_014000.3(VCL):c.1503G>C (p.Gln501His)
|
rs1203105475
|
0.00001
|
|
NM_014000.3(VCL):c.1543G>A (p.Gly515Ser)
|
rs1215494764
|
0.00001
|
|
NM_014000.3(VCL):c.1582C>T (p.Arg528Cys)
|
rs923960592
|
0.00001
|
|
NM_014000.3(VCL):c.1604G>A (p.Gly535Glu)
|
rs1342547968
|
0.00001
|
|
NM_014000.3(VCL):c.1612C>T (p.Arg538Trp)
|
rs1371212023
|
0.00001
|
|
NM_014000.3(VCL):c.1613G>A (p.Arg538Gln)
|
rs566596830
|
0.00001
|
|
NM_014000.3(VCL):c.163G>T (p.Val55Phe)
|
rs755441334
|
0.00001
|
|
NM_014000.3(VCL):c.1640G>A (p.Arg547Gln)
|
rs748044427
|
0.00001
|
|
NM_014000.3(VCL):c.1709G>A (p.Arg570Gln)
|
rs1227574438
|
0.00001
|
|
NM_014000.3(VCL):c.1713del (p.Ala573fs)
|
rs779488376
|
0.00001
|
|
NM_014000.3(VCL):c.1714C>T (p.Leu572Phe)
|
rs1839959949
|
0.00001
|
|
NM_014000.3(VCL):c.1789G>C (p.Asp597His)
|
rs1373810182
|
0.00001
|
|
NM_014000.3(VCL):c.1798A>C (p.Ser600Arg)
|
rs397517236
|
0.00001
|
|
NM_014000.3(VCL):c.1816A>G (p.Ile606Val)
|
rs750293810
|
0.00001
|
|
NM_014000.3(VCL):c.1838C>T (p.Ala613Val)
|
rs781520177
|
0.00001
|
|
NM_014000.3(VCL):c.184G>A (p.Val62Ile)
|
rs147809878
|
0.00001
|
|
NM_014000.3(VCL):c.1863C>G (p.Asn621Lys)
|
rs746293391
|
0.00001
|
|
NM_014000.3(VCL):c.1865G>A (p.Arg622Lys)
|
rs771590749
|
0.00001
|
|
NM_014000.3(VCL):c.1918C>G (p.Leu640Val)
|
rs886047219
|
0.00001
|
|
NM_014000.3(VCL):c.1946C>T (p.Ala649Val)
|
rs1243442389
|
0.00001
|
|
NM_014000.3(VCL):c.1999A>G (p.Thr667Ala)
|
rs1233764253
|
0.00001
|
|
NM_014000.3(VCL):c.2000C>T (p.Thr667Met)
|
rs794729187
|
0.00001
|
|
NM_014000.3(VCL):c.2005C>T (p.Arg669Ter)
|
rs780856981
|
0.00001
|
|
NM_014000.3(VCL):c.2023-1G>C
|
rs1840093670
|
0.00001
|
|
NM_014000.3(VCL):c.2182G>A (p.Glu728Lys)
|
rs144717954
|
0.00001
|
|
NM_014000.3(VCL):c.2241G>C (p.Gln747His)
|
rs770019329
|
0.00001
|
|
NM_014000.3(VCL):c.2272C>T (p.Arg758Cys)
|
rs1429797708
|
0.00001
|
|
NM_014000.3(VCL):c.2284C>T (p.Arg762Trp)
|
rs1334643090
|
0.00001
|
|
NM_014000.3(VCL):c.2285G>A (p.Arg762Gln)
|
rs540039788
|
0.00001
|
|
NM_014000.3(VCL):c.2305A>G (p.Arg769Gly)
|
rs566257885
|
0.00001
|
|
NM_014000.3(VCL):c.2332A>G (p.Lys778Glu)
|
rs1840113067
|
0.00001
|
|
NM_014000.3(VCL):c.2338C>T (p.Arg780Cys)
|
rs753445972
|
0.00001
|
|
NM_014000.3(VCL):c.2353G>A (p.Ala785Thr)
|
rs778554042
|
0.00001
|
|
NM_014000.3(VCL):c.2365G>A (p.Glu789Lys)
|
rs745419923
|
0.00001
|
|
NM_014000.3(VCL):c.2378C>A (p.Thr793Asn)
|
rs773421444
|
0.00001
|
|
NM_014000.3(VCL):c.2387C>T (p.Pro796Leu)
|
rs1364541925
|
0.00001
|
|
NM_014000.3(VCL):c.238A>C (p.Lys80Gln)
|
rs775532257
|
0.00001
|
|
NM_014000.3(VCL):c.239+3G>A
|
rs372571288
|
0.00001
|
|
NM_014000.3(VCL):c.239+6T>G
|
rs752335603
|
0.00001
|
|
NM_014000.3(VCL):c.2428G>A (p.Asp810Asn)
|
rs751458490
|
0.00001
|
|
NM_014000.3(VCL):c.2515G>A (p.Glu839Lys)
|
rs747152761
|
0.00001
|
|
NM_014000.3(VCL):c.2528C>T (p.Pro843Leu)
|
rs764302249
|
0.00001
|
|
NM_014000.3(VCL):c.2543A>G (p.Asp848Gly)
|
rs960105711
|
0.00001
|
|
NM_014000.3(VCL):c.2557C>G (p.Arg853Gly)
|
rs766109034
|
0.00001
|
|
NM_014000.3(VCL):c.2558G>A (p.Arg853Gln)
|
rs992716111
|
0.00001
|
|
NM_014000.3(VCL):c.2602G>A (p.Gly868Ser)
|
rs960636997
|
0.00001
|
|
NM_014000.3(VCL):c.2761G>A (p.Ala921Thr)
|
rs764278411
|
0.00001
|
|
NM_014000.3(VCL):c.2766G>T (p.Glu922Asp)
|
rs1036173576
|
0.00001
|
|
NM_014000.3(VCL):c.2798C>T (p.Ala933Val)
|
rs550741064
|
0.00001
|
|
NM_014000.3(VCL):c.2803G>A (p.Asp935Asn)
|
rs746658025
|
0.00001
|
|
NM_014000.3(VCL):c.2807C>T (p.Ala936Val)
|
rs754681045
|
0.00001
|
|
NM_014000.3(VCL):c.2829del (p.Asp944fs)
|
rs750347797
|
0.00001
|
|
NM_014000.3(VCL):c.2833A>G (p.Met945Val)
|
rs773050457
|
0.00001
|
|
NM_014000.3(VCL):c.2834T>C (p.Met945Thr)
|
rs1443843519
|
0.00001
|
|
NM_014000.3(VCL):c.2848G>A (p.Glu950Lys)
|
rs1174019524
|
0.00001
|
|
NM_014000.3(VCL):c.2851C>T (p.Pro951Ser)
|
rs774356864
|
0.00001
|
|
NM_014000.3(VCL):c.2852C>G (p.Pro951Arg)
|
rs368570586
|
0.00001
|
|
NM_014000.3(VCL):c.2893C>T (p.Pro965Ser)
|
rs749236817
|
0.00001
|
|
NM_014000.3(VCL):c.2923C>T (p.Arg975Trp)
|
rs121917776
|
0.00001
|
|
NM_014000.3(VCL):c.2924G>A (p.Arg975Gln)
|
rs767325003
|
0.00001
|
|
NM_014000.3(VCL):c.3007C>T (p.Arg1003Trp)
|
rs753166628
|
0.00001
|
|
NM_014000.3(VCL):c.3019G>C (p.Gly1007Arg)
|
rs1554819630
|
0.00001
|
|
NM_014000.3(VCL):c.3091C>T (p.Arg1031Trp)
|
rs746857871
|
0.00001
|
|
NM_014000.3(VCL):c.313C>T (p.Arg105Ter)
|
rs397517239
|
0.00001
|
|
NM_014000.3(VCL):c.3226C>T (p.Arg1076Trp)
|
rs397517241
|
0.00001
|
|
NM_014000.3(VCL):c.3374G>A (p.Arg1125His)
|
rs910885092
|
0.00001
|
|
NM_014000.3(VCL):c.457A>C (p.Thr153Pro)
|
rs376921881
|
0.00001
|
|
NM_014000.3(VCL):c.527A>G (p.Asp176Gly)
|
rs573623641
|
0.00001
|
|
NM_014000.3(VCL):c.529G>A (p.Glu177Lys)
|
rs1007055332
|
0.00001
|
|
NM_014000.3(VCL):c.539A>G (p.Gln180Arg)
|
rs1841681941
|
0.00001
|
|
NM_014000.3(VCL):c.550C>T (p.His184Tyr)
|
rs1321660809
|
0.00001
|
|
NM_014000.3(VCL):c.562C>T (p.Arg188Ter)
|
rs397517244
|
0.00001
|
|
NM_014000.3(VCL):c.581C>T (p.Ser194Leu)
|
rs921627346
|
0.00001
|
|
NM_014000.3(VCL):c.610G>C (p.Val204Leu)
|
rs727504585
|
0.00001
|
|
NM_014000.3(VCL):c.625A>T (p.Met209Leu)
|
rs144683137
|
0.00001
|
|
NM_014000.3(VCL):c.655A>G (p.Lys219Glu)
|
rs1192467361
|
0.00001
|
|
NM_014000.3(VCL):c.689G>A (p.Arg230His)
|
rs749628307
|
0.00001
|
|
NM_014000.3(VCL):c.692A>G (p.Asn231Ser)
|
rs1194024528
|
0.00001
|
|
NM_014000.3(VCL):c.695T>A (p.Phe232Tyr)
|
rs200956572
|
0.00001
|
|
NM_014000.3(VCL):c.739G>A (p.Val247Met)
|
rs545372383
|
0.00001
|
|
NM_014000.3(VCL):c.823T>G (p.Ser275Ala)
|
rs765726337
|
0.00001
|
|
NM_014000.3(VCL):c.844G>T (p.Gly282Cys)
|
rs766091503
|
0.00001
|
|
NM_014000.3(VCL):c.854G>A (p.Arg285His)
|
rs397517246
|
0.00001
|
|
NM_014000.3(VCL):c.863G>T (p.Ser288Ile)
|
rs138270989
|
0.00001
|
|
NM_014000.3(VCL):c.871C>G (p.Pro291Ala)
|
rs1302101209
|
0.00001
|
|
NM_014000.3(VCL):c.947A>C (p.Lys316Thr)
|
rs143944164
|
0.00001
|
|
NM_014000.3(VCL):c.952C>T (p.Arg318Cys)
|
rs397517247
|
0.00001
|
|
NM_014000.3(VCL):c.997G>A (p.Asp333Asn)
|
rs778677392
|
0.00001
|
|
NM_014476.6(PDLIM3):c.1042C>T (p.Arg348Cys)
|
rs772981250
|
0.00001
|
|
NM_014476.6(PDLIM3):c.1060G>A (p.Gly354Ser)
|
rs2095688353
|
0.00001
|
|
NM_014476.6(PDLIM3):c.1070C>T (p.Thr357Met)
|
rs775841507
|
0.00001
|
|
NM_014476.6(PDLIM3):c.1082A>G (p.Tyr361Cys)
|
rs779267023
|
0.00001
|
|
NM_014476.6(PDLIM3):c.113C>T (p.Ala38Val)
|
rs182803361
|
0.00001
|
|
NM_014476.6(PDLIM3):c.152C>T (p.Ala51Val)
|
rs755994888
|
0.00001
|
|
NM_014476.6(PDLIM3):c.154A>G (p.Ile52Val)
|
rs752432016
|
0.00001
|
|
NM_014476.6(PDLIM3):c.178A>C (p.Met60Leu)
|
rs764788096
|
0.00001
|
|
NM_014476.6(PDLIM3):c.194C>T (p.Ala65Val)
|
rs769091239
|
0.00001
|
|
NM_014476.6(PDLIM3):c.262T>C (p.Trp88Arg)
|
rs1561200671
|
0.00001
|
|
NM_014476.6(PDLIM3):c.268C>G (p.Pro90Ala)
|
rs1355493976
|
0.00001
|
|
NM_014476.6(PDLIM3):c.273A>G (p.Gln91=)
|
rs777908111
|
0.00001
|
|
NM_014476.6(PDLIM3):c.317A>C (p.Glu106Ala)
|
rs199476400
|
0.00001
|
|
NM_014476.6(PDLIM3):c.334G>A (p.Gly112Arg)
|
rs777447396
|
0.00001
|
|
NM_014476.6(PDLIM3):c.354G>C (p.Lys118Asn)
|
rs1295481759
|
0.00001
|
|
NM_014476.6(PDLIM3):c.399-8T>G
|
rs1301395755
|
0.00001
|
|
NM_014476.6(PDLIM3):c.418G>A (p.Gly140Arg)
|
rs762780442
|
0.00001
|
|
NM_014476.6(PDLIM3):c.422T>C (p.Ile141Thr)
|
rs773342819
|
0.00001
|
|
NM_014476.6(PDLIM3):c.47G>T (p.Arg16Met)
|
rs758987751
|
0.00001
|
|
NM_014476.6(PDLIM3):c.511G>A (p.Ala171Thr)
|
rs878854982
|
0.00001
|
|
NM_014476.6(PDLIM3):c.663-1G>A
|
rs748290083
|
0.00001
|
|
NM_014476.6(PDLIM3):c.664G>A (p.Glu222Lys)
|
rs768821275
|
0.00001
|
|
NM_014476.6(PDLIM3):c.692C>T (p.Ser231Leu)
|
rs777812739
|
0.00001
|
|
NM_014476.6(PDLIM3):c.725A>G (p.Asn242Ser)
|
rs780392840
|
0.00001
|
|
NM_014476.6(PDLIM3):c.727G>A (p.Glu243Lys)
|
rs1306620317
|
0.00001
|
|
NM_014476.6(PDLIM3):c.763G>C (p.Val255Leu)
|
rs1254946691
|
0.00001
|
|
NM_014476.6(PDLIM3):c.778G>A (p.Val260Met)
|
rs878854983
|
0.00001
|
|
NM_014476.6(PDLIM3):c.799C>T (p.Arg267Cys)
|
rs373419233
|
0.00001
|
|
NM_014476.6(PDLIM3):c.847G>A (p.Gly283Ser)
|
rs779988849
|
0.00001
|
|
NM_014476.6(PDLIM3):c.895A>C (p.Ser299Arg)
|
rs1034968896
|
0.00001
|
|
NM_014476.6(PDLIM3):c.905+18C>G
|
rs778572675
|
0.00001
|
|
NM_014476.6(PDLIM3):c.913G>A (p.Val305Met)
|
rs1326853948
|
0.00001
|
|
NM_014476.6(PDLIM3):c.926G>A (p.Arg309Gln)
|
rs200273032
|
0.00001
|
|
NM_014908.4(DOLK):c.1010G>A (p.Arg337Gln)
|
rs759025031
|
0.00001
|
|
NM_014908.4(DOLK):c.1065C>G (p.Asp355Glu)
|
rs371882757
|
0.00001
|
|
NM_014908.4(DOLK):c.1129C>T (p.Arg377Cys)
|
rs868232833
|
0.00001
|
|
NM_014908.4(DOLK):c.1159A>G (p.Thr387Ala)
|
rs747285047
|
0.00001
|
|
NM_014908.4(DOLK):c.1178C>T (p.Ser393Phe)
|
rs982668501
|
0.00001
|
|
NM_014908.4(DOLK):c.1190A>G (p.Asp397Gly)
|
rs753795845
|
0.00001
|
|
NM_014908.4(DOLK):c.1196G>A (p.Arg399Gln)
|
rs748688866
|
0.00001
|
|
NM_014908.4(DOLK):c.1249C>T (p.Leu417Phe)
|
rs771007659
|
0.00001
|
|
NM_014908.4(DOLK):c.128C>T (p.Ser43Leu)
|
rs1352546858
|
0.00001
|
|
NM_014908.4(DOLK):c.1303G>C (p.Ala435Pro)
|
rs1306365829
|
0.00001
|
|
NM_014908.4(DOLK):c.1312C>T (p.Leu438Phe)
|
rs112448460
|
0.00001
|
|
NM_014908.4(DOLK):c.1357G>C (p.Val453Leu)
|
rs1294479059
|
0.00001
|
|
NM_014908.4(DOLK):c.1372G>A (p.Gly458Ser)
|
rs748468540
|
0.00001
|
|
NM_014908.4(DOLK):c.1373G>T (p.Gly458Val)
|
rs999023298
|
0.00001
|
|
NM_014908.4(DOLK):c.1413G>C (p.Lys471Asn)
|
rs1336940137
|
0.00001
|
|
NM_014908.4(DOLK):c.1419T>G (p.Phe473Leu)
|
rs780799327
|
0.00001
|
|
NM_014908.4(DOLK):c.1445C>T (p.Ala482Val)
|
rs767693634
|
0.00001
|
|
NM_014908.4(DOLK):c.1535C>T (p.Thr512Ile)
|
rs1166313359
|
0.00001
|
|
NM_014908.4(DOLK):c.1541C>G (p.Ser514Cys)
|
rs537893599
|
0.00001
|
|
NM_014908.4(DOLK):c.1579C>T (p.Leu527Phe)
|
rs1841648949
|
0.00001
|
|
NM_014908.4(DOLK):c.1594C>T (p.Leu532Phe)
|
rs140350881
|
0.00001
|
|
NM_014908.4(DOLK):c.172T>G (p.Tyr58Asp)
|
rs1403792413
|
0.00001
|
|
NM_014908.4(DOLK):c.175A>G (p.Lys59Glu)
|
rs771383826
|
0.00001
|
|
NM_014908.4(DOLK):c.187C>G (p.Leu63Val)
|
rs1385561774
|
0.00001
|
|
NM_014908.4(DOLK):c.194A>G (p.Gln65Arg)
|
rs754744977
|
0.00001
|
|
NM_014908.4(DOLK):c.203G>T (p.Ser68Ile)
|
rs753603168
|
0.00001
|
|
NM_014908.4(DOLK):c.216G>T (p.Gln72His)
|
rs767180137
|
0.00001
|
|
NM_014908.4(DOLK):c.266C>T (p.Pro89Leu)
|
rs1310123344
|
0.00001
|
|
NM_014908.4(DOLK):c.292C>T (p.Arg98Trp)
|
rs747555089
|
0.00001
|
|
NM_014908.4(DOLK):c.374del (p.Ser125fs)
|
rs1156844272
|
0.00001
|
|
NM_014908.4(DOLK):c.401G>A (p.Arg134His)
|
rs768596252
|
0.00001
|
|
NM_014908.4(DOLK):c.432G>C (p.Leu144Phe)
|
rs780422418
|
0.00001
|
|
NM_014908.4(DOLK):c.448G>T (p.Val150Phe)
|
rs900642092
|
0.00001
|
|
NM_014908.4(DOLK):c.463A>T (p.Met155Leu)
|
rs1218829181
|
0.00001
|
|
NM_014908.4(DOLK):c.472T>A (p.Ser158Thr)
|
rs1246967572
|
0.00001
|
|
NM_014908.4(DOLK):c.489G>T (p.Glu163Asp)
|
rs1329633231
|
0.00001
|
|
NM_014908.4(DOLK):c.493A>G (p.Ile165Val)
|
rs762432181
|
0.00001
|
|
NM_014908.4(DOLK):c.523G>A (p.Val175Ile)
|
rs145177598
|
0.00001
|
|
NM_014908.4(DOLK):c.534C>A (p.Asn178Lys)
|
rs1201588280
|
0.00001
|
|
NM_014908.4(DOLK):c.560G>T (p.Arg187Leu)
|
rs377658203
|
0.00001
|
|
NM_014908.4(DOLK):c.581C>T (p.Ala194Val)
|
rs763132281
|
0.00001
|
|
NM_014908.4(DOLK):c.603T>G (p.Ile201Met)
|
rs765382712
|
0.00001
|
|
NM_014908.4(DOLK):c.703G>A (p.Val235Ile)
|
rs759019995
|
0.00001
|
|
NM_014908.4(DOLK):c.710T>C (p.Met237Thr)
|
rs201363976
|
0.00001
|
|
NM_014908.4(DOLK):c.719T>C (p.Phe240Ser)
|
rs765475110
|
0.00001
|
|
NM_014908.4(DOLK):c.725G>A (p.Ser242Asn)
|
rs876657786
|
0.00001
|
|
NM_014908.4(DOLK):c.73G>A (p.Ala25Thr)
|
rs764980710
|
0.00001
|
|
NM_014908.4(DOLK):c.767C>T (p.Ser256Phe)
|
rs1186154711
|
0.00001
|
|
NM_014908.4(DOLK):c.86C>T (p.Ala29Val)
|
rs1401208309
|
0.00001
|
|
NM_014908.4(DOLK):c.908A>G (p.Tyr303Cys)
|
rs780974264
|
0.00001
|
|
NM_014908.4(DOLK):c.910T>C (p.Trp304Arg)
|
rs1413752276
|
0.00001
|
|
NM_014908.4(DOLK):c.964C>T (p.Arg322Trp)
|
rs1350623268
|
0.00001
|
|
NM_014908.4(DOLK):c.967T>C (p.Ser323Pro)
|
rs750702584
|
0.00001
|
|
NM_015374.3(SUN2):c.109G>A (p.Asp37Asn)
|
rs569556638
|
0.00001
|
|
NM_015374.3(SUN2):c.1153G>A (p.Glu385Lys)
|
rs1451970985
|
0.00001
|
|
NM_015374.3(SUN2):c.1270G>A (p.Glu424Lys)
|
rs370825322
|
0.00001
|
|
NM_015374.3(SUN2):c.1373C>T (p.Pro458Leu)
|
rs781480505
|
0.00001
|
|
NM_015374.3(SUN2):c.1553A>G (p.Glu518Gly)
|
rs1417867039
|
0.00001
|
|
NM_015374.3(SUN2):c.1633G>A (p.Gly545Arg)
|
rs758076166
|
0.00001
|
|
NM_015374.3(SUN2):c.1645_1648dup (p.Ala550fs)
|
rs1284194276
|
0.00001
|
|
NM_015374.3(SUN2):c.1746G>T (p.Trp582Cys)
|
rs1370457089
|
0.00001
|
|
NM_015374.3(SUN2):c.1766G>A (p.Arg589Gln)
|
rs1446967356
|
0.00001
|
|
NM_015374.3(SUN2):c.1990A>C (p.Lys664Gln)
|
rs1285036282
|
0.00001
|
|
NM_015374.3(SUN2):c.2039A>G (p.Gln680Arg)
|
rs1486287848
|
0.00001
|
|
NM_015374.3(SUN2):c.2041G>A (p.Ala681Thr)
|
rs559096453
|
0.00001
|
|
NM_015374.3(SUN2):c.247A>G (p.Arg83Gly)
|
rs1474913633
|
0.00001
|
|
NM_015374.3(SUN2):c.269A>G (p.His90Arg)
|
rs2092943342
|
0.00001
|
|
NM_015374.3(SUN2):c.282C>A (p.Asn94Lys)
|
rs750454076
|
0.00001
|
|
NM_015374.3(SUN2):c.361C>T (p.Arg121Cys)
|
rs201794535
|
0.00001
|
|
NM_015374.3(SUN2):c.364A>G (p.Lys122Glu)
|
rs746753110
|
0.00001
|
|
NM_015374.3(SUN2):c.41G>T (p.Gly14Val)
|
rs1461986386
|
0.00001
|
|
NM_015374.3(SUN2):c.421G>A (p.Val141Met)
|
rs1435451030
|
0.00001
|
|
NM_015374.3(SUN2):c.504G>A (p.Met168Ile)
|
rs779478954
|
0.00001
|
|
NM_015374.3(SUN2):c.515C>T (p.Ser172Leu)
|
rs760739182
|
0.00001
|
|
NM_015374.3(SUN2):c.549G>A (p.Trp183Ter)
|
rs746473215
|
0.00001
|
|
NM_015374.3(SUN2):c.728C>T (p.Pro243Leu)
|
rs2092899305
|
0.00001
|
|
NM_015374.3(SUN2):c.759C>G (p.Asp253Glu)
|
rs375173070
|
0.00001
|
|
NM_015374.3(SUN2):c.77C>T (p.Ser26Leu)
|
rs150683665
|
0.00001
|
|
NM_015374.3(SUN2):c.835C>T (p.Arg279Trp)
|
rs1187777425
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1003A>G (p.Met335Val)
|
rs769428744
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1052-6A>G
|
rs772764664
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1112T>A (p.Phe371Tyr)
|
rs769892556
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1172T>C (p.Ile391Thr)
|
rs1425296851
|
0.00001
|
|
NM_016203.4(PRKAG2):c.119T>A (p.Leu40Gln)
|
rs139653890
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1238C>G (p.Ser413Cys)
|
rs758756757
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1255G>A (p.Ala419Thr)
|
rs373919593
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1295C>T (p.Thr432Met)
|
rs760879406
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1315A>G (p.Ile439Val)
|
rs370257703
|
0.00001
|
|
NM_016203.4(PRKAG2):c.131C>T (p.Ala44Val)
|
rs730880984
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1324G>A (p.Asp442Asn)
|
rs199863116
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1361A>G (p.Glu454Gly)
|
rs940818676
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1367G>A (p.Arg456Gln)
|
rs730880980
|
0.00001
|
|
NM_016203.4(PRKAG2):c.137C>T (p.Pro46Leu)
|
rs373477232
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1390G>A (p.Asp464Asn)
|
rs397517264
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1438-3C>A
|
rs773864390
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1475T>A (p.Ile492Asn)
|
rs186114650
|
0.00001
|
|
NM_016203.4(PRKAG2):c.148G>A (p.Gly50Arg)
|
rs1430071393
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1502G>A (p.Arg501His)
|
rs144077131
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1508A>G (p.Gln503Arg)
|
rs727504337
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1529A>G (p.Lys510Arg)
|
rs370899599
|
0.00001
|
|
NM_016203.4(PRKAG2):c.161G>A (p.Gly54Asp)
|
rs878855019
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1655A>G (p.Gln552Arg)
|
rs1335765564
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1687C>T (p.Gln563Ter)
|
rs397517267
|
0.00001
|
|
NM_016203.4(PRKAG2):c.186G>T (p.Lys62Asn)
|
rs369687307
|
0.00001
|
|
NM_016203.4(PRKAG2):c.187-3C>T
|
rs972389122
|
0.00001
|
|
NM_016203.4(PRKAG2):c.262C>A (p.Pro88Thr)
|
rs1300640443
|
0.00001
|
|
NM_016203.4(PRKAG2):c.275C>A (p.Pro92His)
|
rs375398155
|
0.00001
|
|
NM_016203.4(PRKAG2):c.292A>G (p.Ser98Gly)
|
rs1243030792
|
0.00001
|
|
NM_016203.4(PRKAG2):c.31A>G (p.Lys11Glu)
|
rs1041124171
|
0.00001
|
|
NM_016203.4(PRKAG2):c.320C>T (p.Pro107Leu)
|
rs730880985
|
0.00001
|
|
NM_016203.4(PRKAG2):c.355C>T (p.Arg119Ter)
|
rs1177945294
|
0.00001
|
|
NM_016203.4(PRKAG2):c.359G>T (p.Arg120Leu)
|
rs775756069
|
0.00001
|
|
NM_016203.4(PRKAG2):c.376A>G (p.Ile126Val)
|
rs1379819489
|
0.00001
|
|
NM_016203.4(PRKAG2):c.382C>T (p.Arg128Cys)
|
rs2076651870
|
0.00001
|
|
NM_016203.4(PRKAG2):c.395A>G (p.Lys132Arg)
|
rs779753891
|
0.00001
|
|
NM_016203.4(PRKAG2):c.40G>C (p.Val14Leu)
|
rs150188173
|
0.00001
|
|
NM_016203.4(PRKAG2):c.418C>T (p.Pro140Ser)
|
rs755782342
|
0.00001
|
|
NM_016203.4(PRKAG2):c.428C>T (p.Ser143Leu)
|
rs397517271
|
0.00001
|
|
NM_016203.4(PRKAG2):c.466+2T>G
|
rs962806505
|
0.00001
|
|
NM_016203.4(PRKAG2):c.475C>T (p.Leu159Phe)
|
rs1832795622
|
0.00001
|
|
NM_016203.4(PRKAG2):c.482C>T (p.Ser161Phe)
|
rs748557485
|
0.00001
|
|
NM_016203.4(PRKAG2):c.500C>T (p.Thr167Ile)
|
rs766578540
|
0.00001
|
|
NM_016203.4(PRKAG2):c.515A>C (p.Gln172Pro)
|
rs969117866
|
0.00001
|
|
NM_016203.4(PRKAG2):c.541A>C (p.Lys181Gln)
|
rs765259437
|
0.00001
|
|
NM_016203.4(PRKAG2):c.569G>A (p.Arg190His)
|
rs551795395
|
0.00001
|
|
NM_016203.4(PRKAG2):c.587C>T (p.Ser196Phe)
|
rs267601424
|
0.00001
|
|
NM_016203.4(PRKAG2):c.629A>G (p.Gln210Arg)
|
rs1585679990
|
0.00001
|
|
NM_016203.4(PRKAG2):c.64G>A (p.Gly22Ser)
|
rs1057524523
|
0.00001
|
|
NM_016203.4(PRKAG2):c.659C>T (p.Pro220Leu)
|
rs200181419
|
0.00001
|
|
NM_016203.4(PRKAG2):c.679A>G (p.Lys227Glu)
|
rs766460601
|
0.00001
|
|
NM_016203.4(PRKAG2):c.684C>T (p.Ala228=)
|
rs151108625
|
0.00001
|
|
NM_016203.4(PRKAG2):c.685-1G>A
|
rs1824685527
|
0.00001
|
|
NM_016203.4(PRKAG2):c.685-3C>T
|
rs1057520353
|
0.00001
|
|
NM_016203.4(PRKAG2):c.691C>G (p.Leu231Val)
|
rs745772277
|
0.00001
|
|
NM_016203.4(PRKAG2):c.739G>C (p.Glu247Gln)
|
rs397517281
|
0.00001
|
|
NM_016203.4(PRKAG2):c.755-1G>A
|
rs778614872
|
0.00001
|
|
NM_016203.4(PRKAG2):c.979C>G (p.Leu327Val)
|
rs730880988
|
0.00001
|
|
NM_016203.4(PRKAG2):c.997T>G (p.Ser333Ala)
|
rs775005432
|
0.00001
|
|
NM_016599.5(MYOZ2):c.114C>G (p.Ile38Met)
|
rs1741433554
|
0.00001
|
|
NM_016599.5(MYOZ2):c.11A>T (p.His4Leu)
|
rs376901669
|
0.00001
|
|
NM_016599.5(MYOZ2):c.158G>A (p.Arg53His)
|
rs751671131
|
0.00001
|
|
NM_016599.5(MYOZ2):c.181C>T (p.Arg61Cys)
|
rs755233280
|
0.00001
|
|
NM_016599.5(MYOZ2):c.182G>A (p.Arg61His)
|
rs748259386
|
0.00001
|
|
NM_016599.5(MYOZ2):c.220C>T (p.Gln74Ter)
|
rs863223715
|
0.00001
|
|
NM_016599.5(MYOZ2):c.227A>G (p.Gln76Arg)
|
rs761283496
|
0.00001
|
|
NM_016599.5(MYOZ2):c.247-3C>T
|
rs774202003
|
0.00001
|
|
NM_016599.5(MYOZ2):c.275T>C (p.Val92Ala)
|
rs764229797
|
0.00001
|
|
NM_016599.5(MYOZ2):c.292G>C (p.Glu98Gln)
|
rs779446731
|
0.00001
|
|
NM_016599.5(MYOZ2):c.343C>T (p.Arg115Ter)
|
rs374655743
|
0.00001
|
|
NM_016599.5(MYOZ2):c.389C>T (p.Pro130Leu)
|
rs890598036
|
0.00001
|
|
NM_016599.5(MYOZ2):c.392T>A (p.Leu131Gln)
|
rs781466292
|
0.00001
|
|
NM_016599.5(MYOZ2):c.419A>T (p.Asn140Ile)
|
rs745351307
|
0.00001
|
|
NM_016599.5(MYOZ2):c.497T>C (p.Leu166Ser)
|
rs1227160156
|
0.00001
|
|
NM_016599.5(MYOZ2):c.566C>T (p.Ala189Val)
|
rs775850657
|
0.00001
|
|
NM_016599.5(MYOZ2):c.749C>T (p.Thr250Ile)
|
rs774131437
|
0.00001
|
|
NM_016599.5(MYOZ2):c.75T>C (p.Asn25=)
|
rs201476980
|
0.00001
|
|
NM_016599.5(MYOZ2):c.773T>A (p.Val258Glu)
|
rs760620614
|
0.00001
|
|
NM_020297.4(ABCC9):c.1012-2A>G
|
rs1345994016
|
0.00001
|
|
NM_020297.4(ABCC9):c.1013T>C (p.Ile338Thr)
|
rs756300282
|
0.00001
|
|
NM_020297.4(ABCC9):c.1129A>G (p.Ile377Val)
|
rs567016348
|
0.00001
|
|
NM_020297.4(ABCC9):c.1147C>T (p.Leu383Phe)
|
rs755542764
|
0.00001
|
|
NM_020297.4(ABCC9):c.1151G>A (p.Arg384His)
|
rs374574602
|
0.00001
|
|
NM_020297.4(ABCC9):c.1164+4T>C
|
rs201001352
|
0.00001
|
|
NM_020297.4(ABCC9):c.130A>G (p.Ile44Val)
|
rs750233555
|
0.00001
|
|
NM_020297.4(ABCC9):c.1381G>C (p.Ala461Pro)
|
rs374535641
|
0.00001
|
|
NM_020297.4(ABCC9):c.1456-3T>C
|
rs759866398
|
0.00001
|
|
NM_020297.4(ABCC9):c.1492A>G (p.Ile498Val)
|
rs1565470546
|
0.00001
|
|
NM_020297.4(ABCC9):c.1603T>C (p.Tyr535His)
|
rs397517184
|
0.00001
|
|
NM_020297.4(ABCC9):c.1609T>A (p.Ser537Thr)
|
rs780072385
|
0.00001
|
|
NM_020297.4(ABCC9):c.1654C>G (p.Leu552Val)
|
rs1292869379
|
0.00001
|
|
NM_020297.4(ABCC9):c.1676C>T (p.Ala559Val)
|
rs772619542
|
0.00001
|
|
NM_020297.4(ABCC9):c.169C>T (p.Gln57Ter)
|
rs727502876
|
0.00001
|
|
NM_020297.4(ABCC9):c.1743G>A (p.Leu581=)
|
rs777049470
|
0.00001
|
|
NM_020297.4(ABCC9):c.1817A>C (p.Asn606Thr)
|
rs149229372
|
0.00001
|
|
NM_020297.4(ABCC9):c.1858C>T (p.Arg620Ter)
|
rs1024095026
|
0.00001
|
|
NM_020297.4(ABCC9):c.1874C>T (p.Ser625Leu)
|
rs75460545
|
0.00001
|
|
NM_020297.4(ABCC9):c.1877T>C (p.Leu626Pro)
|
rs1002300338
|
0.00001
|
|
NM_020297.4(ABCC9):c.1911+5G>A
|
rs1946955991
|
0.00001
|
|
NM_020297.4(ABCC9):c.1912-5T>C
|
rs1478113552
|
0.00001
|
|
NM_020297.4(ABCC9):c.1927A>C (p.Asn643His)
|
rs138890128
|
0.00001
|
|
NM_020297.4(ABCC9):c.1933A>G (p.Lys645Glu)
|
rs876657734
|
0.00001
|
|
NM_020297.4(ABCC9):c.1978C>T (p.Arg660Trp)
|
rs760889253
|
0.00001
|
|
NM_020297.4(ABCC9):c.1982G>A (p.Arg661His)
|
rs397517185
|
0.00001
|
|
NM_020297.4(ABCC9):c.2000C>T (p.Thr667Ile)
|
rs397517186
|
0.00001
|
|
NM_020297.4(ABCC9):c.2024C>T (p.Thr675Ile)
|
rs1179158950
|
0.00001
|
|
NM_020297.4(ABCC9):c.2045G>A (p.Gly682Asp)
|
rs752106985
|
0.00001
|
|
NM_020297.4(ABCC9):c.2066C>T (p.Ser689Phe)
|
rs200288646
|
0.00001
|
|
NM_020297.4(ABCC9):c.2072T>C (p.Ile691Thr)
|
rs766197122
|
0.00001
|
|
NM_020297.4(ABCC9):c.2086C>T (p.Pro696Ser)
|
rs183603557
|
0.00001
|
|
NM_020297.4(ABCC9):c.2092+5G>T
|
rs763488230
|
0.00001
|
|
NM_020297.4(ABCC9):c.2102C>A (p.Thr701Asn)
|
rs763289280
|
0.00001
|
|
NM_020297.4(ABCC9):c.2149G>A (p.Ala717Thr)
|
rs397517187
|
0.00001
|
|
NM_020297.4(ABCC9):c.2152A>G (p.Ile718Val)
|
rs1946141017
|
0.00001
|
|
NM_020297.4(ABCC9):c.2155C>T (p.Leu719Phe)
|
rs141925577
|
0.00001
|
|
NM_020297.4(ABCC9):c.2158G>A (p.Gly720Ser)
|
rs542184069
|
0.00001
|
|
NM_020297.4(ABCC9):c.2171C>T (p.Thr724Ile)
|
rs773355490
|
0.00001
|
|
NM_020297.4(ABCC9):c.2190C>A (p.His730Gln)
|
rs771887289
|
0.00001
|
|
NM_020297.4(ABCC9):c.2198+6T>C
|
rs1057522523
|
0.00001
|
|
NM_020297.4(ABCC9):c.21dup (p.Asn8Ter)
|
rs1264575683
|
0.00001
|
|
NM_020297.4(ABCC9):c.2212G>A (p.Glu738Lys)
|
rs202054255
|
0.00001
|
|
NM_020297.4(ABCC9):c.2215C>G (p.Pro739Ala)
|
rs201223488
|
0.00001
|
|
NM_020297.4(ABCC9):c.2222T>C (p.Phe741Ser)
|
rs146944210
|
0.00001
|
|
NM_020297.4(ABCC9):c.2324C>A (p.Pro775His)
|
rs796559062
|
0.00001
|
|
NM_020297.4(ABCC9):c.2330A>C (p.Asn777Thr)
|
rs1945595014
|
0.00001
|
|
NM_020297.4(ABCC9):c.2424+3G>A
|
rs902015402
|
0.00001
|
|
NM_020297.4(ABCC9):c.2424G>C (p.Arg808Ser)
|
rs1380897239
|
0.00001
|
|
NM_020297.4(ABCC9):c.2425-1G>T
|
rs771241172
|
0.00001
|
|
NM_020297.4(ABCC9):c.2462G>A (p.Cys821Tyr)
|
rs1253290403
|
0.00001
|
|
NM_020297.4(ABCC9):c.2586C>A (p.Asp862Glu)
|
rs768765531
|
0.00001
|
|
NM_020297.4(ABCC9):c.2770-3C>T
|
rs1260462177
|
0.00001
|
|
NM_020297.4(ABCC9):c.2813G>A (p.Arg938Gln)
|
rs201838439
|
0.00001
|
|
NM_020297.4(ABCC9):c.2815C>T (p.Arg939Trp)
|
rs373890183
|
0.00001
|
|
NM_020297.4(ABCC9):c.284+6T>G
|
rs1277936424
|
0.00001
|
|
NM_020297.4(ABCC9):c.2865A>T (p.Glu955Asp)
|
rs922212635
|
0.00001
|
|
NM_020297.4(ABCC9):c.289C>T (p.Arg97Trp)
|
rs727502875
|
0.00001
|
|
NM_020297.4(ABCC9):c.2903C>T (p.Ser968Phe)
|
rs1283425674
|
0.00001
|
|
NM_020297.4(ABCC9):c.2950C>T (p.Arg984Cys)
|
rs78979794
|
0.00001
|
|
NM_020297.4(ABCC9):c.2951G>A (p.Arg984His)
|
rs148752791
|
0.00001
|
|
NM_020297.4(ABCC9):c.3073A>G (p.Asn1025Asp)
|
rs372020861
|
0.00001
|
|
NM_020297.4(ABCC9):c.3179T>C (p.Met1060Thr)
|
rs1358997583
|
0.00001
|
|
NM_020297.4(ABCC9):c.3227T>C (p.Ile1076Thr)
|
rs1356591712
|
0.00001
|
|
NM_020297.4(ABCC9):c.3245+3A>C
|
rs1345977942
|
0.00001
|
|
NM_020297.4(ABCC9):c.3275T>G (p.Ile1092Ser)
|
rs182158174
|
0.00001
|
|
NM_020297.4(ABCC9):c.3283C>T (p.Arg1095Cys)
|
rs752450127
|
0.00001
|
|
NM_020297.4(ABCC9):c.3315+6T>C
|
rs201117578
|
0.00001
|
|
NM_020297.4(ABCC9):c.337G>A (p.Val113Ile)
|
rs200723629
|
0.00001
|
|
NM_020297.4(ABCC9):c.3479T>G (p.Leu1160Arg)
|
rs780799175
|
0.00001
|
|
NM_020297.4(ABCC9):c.3556C>T (p.Arg1186Trp)
|
rs886049169
|
0.00001
|
|
NM_020297.4(ABCC9):c.3574A>G (p.Thr1192Ala)
|
rs1437273344
|
0.00001
|
|
NM_020297.4(ABCC9):c.3575C>A (p.Thr1192Asn)
|
rs1475546623
|
0.00001
|
|
NM_020297.4(ABCC9):c.3644C>A (p.Ala1215Asp)
|
rs960696268
|
0.00001
|
|
NM_020297.4(ABCC9):c.3669+1G>C
|
rs950805207
|
0.00001
|
|
NM_020297.4(ABCC9):c.3893-3C>T
|
rs762931725
|
0.00001
|
|
NM_020297.4(ABCC9):c.3894T>A (p.Asp1298Glu)
|
rs1411910709
|
0.00001
|
|
NM_020297.4(ABCC9):c.3956T>G (p.Val1319Gly)
|
rs748445967
|
0.00001
|
|
NM_020297.4(ABCC9):c.395A>G (p.Lys132Arg)
|
rs727505161
|
0.00001
|
|
NM_020297.4(ABCC9):c.3994G>A (p.Val1332Ile)
|
rs200350065
|
0.00001
|
|
NM_020297.4(ABCC9):c.4024-12C>G
|
rs769587879
|
0.00001
|
|
NM_020297.4(ABCC9):c.4094T>C (p.Ile1365Thr)
|
rs1328493674
|
0.00001
|
|
NM_020297.4(ABCC9):c.4189A>G (p.Ile1397Val)
|
rs1162169303
|
0.00001
|
|
NM_020297.4(ABCC9):c.4231T>C (p.Cys1411Arg)
|
rs17846782
|
0.00001
|
|
NM_020297.4(ABCC9):c.4322T>C (p.Val1441Ala)
|
rs140448278
|
0.00001
|
|
NM_020297.4(ABCC9):c.4352T>C (p.Val1451Ala)
|
rs397517190
|
0.00001
|
|
NM_020297.4(ABCC9):c.437T>A (p.Ile146Asn)
|
rs149325742
|
0.00001
|
|
NM_020297.4(ABCC9):c.4512+691G>A
|
rs777661095
|
0.00001
|
|
NM_020297.4(ABCC9):c.4512+718T>G
|
rs754492531
|
0.00001
|
|
NM_020297.4(ABCC9):c.4512+787A>G
|
rs372859669
|
0.00001
|
|
NM_020297.4(ABCC9):c.4512T>A (p.Ala1504=)
|
rs777591544
|
0.00001
|
|
NM_020297.4(ABCC9):c.466T>C (p.Cys156Arg)
|
rs886049173
|
0.00001
|
|
NM_020297.4(ABCC9):c.47A>G (p.Asn16Ser)
|
rs727502877
|
0.00001
|
|
NM_020297.4(ABCC9):c.49G>A (p.Asp17Asn)
|
rs772070154
|
0.00001
|
|
NM_020297.4(ABCC9):c.568G>T (p.Val190Phe)
|
rs1253797690
|
0.00001
|
|
NM_020297.4(ABCC9):c.595C>A (p.Pro199Thr)
|
rs1246348470
|
0.00001
|
|
NM_020297.4(ABCC9):c.5G>A (p.Ser2Asn)
|
rs1359649036
|
0.00001
|
|
NM_020297.4(ABCC9):c.728T>C (p.Ile243Thr)
|
rs754113599
|
0.00001
|
|
NM_020297.4(ABCC9):c.764T>C (p.Met255Thr)
|
rs150627958
|
0.00001
|
|
NM_020297.4(ABCC9):c.842G>A (p.Arg281Gln)
|
rs753456211
|
0.00001
|
|
NM_020297.4(ABCC9):c.883C>T (p.Arg295Ter)
|
rs1411357079
|
0.00001
|
|
NM_020297.4(ABCC9):c.884G>A (p.Arg295Gln)
|
rs763074253
|
0.00001
|
|
NM_020297.4(ABCC9):c.971G>A (p.Arg324His)
|
rs886039121
|
0.00001
|
|
NM_020297.4(ABCC9):c.983C>A (p.Thr328Asn)
|
rs1477103969
|
0.00001
|
|
NM_020433.5(JPH2):c.1057C>T (p.Arg353Cys)
|
rs749245252
|
0.00001
|
|
NM_020433.5(JPH2):c.1132G>A (p.Ala378Thr)
|
rs770866282
|
0.00001
|
|
NM_020433.5(JPH2):c.1141C>T (p.Arg381Cys)
|
rs768172413
|
0.00001
|
|
NM_020433.5(JPH2):c.1142G>T (p.Arg381Leu)
|
rs746668155
|
0.00001
|
|
NM_020433.5(JPH2):c.1175G>A (p.Ser392Asn)
|
rs148621426
|
0.00001
|
|
NM_020433.5(JPH2):c.1238A>G (p.Asn413Ser)
|
rs778937072
|
0.00001
|
|
NM_020433.5(JPH2):c.1240A>G (p.Ile414Val)
|
rs537544755
|
0.00001
|
|
NM_020433.5(JPH2):c.1247G>T (p.Arg416Leu)
|
rs190802013
|
0.00001
|
|
NM_020433.5(JPH2):c.1267G>T (p.Ala423Ser)
|
rs753716480
|
0.00001
|
|
NM_020433.5(JPH2):c.1292C>T (p.Pro431Leu)
|
rs1272859605
|
0.00001
|
|
NM_020433.5(JPH2):c.1306C>T (p.Arg436Cys)
|
rs1326977511
|
0.00001
|
|
NM_020433.5(JPH2):c.1394C>T (p.Pro465Leu)
|
rs908189174
|
0.00001
|
|
NM_020433.5(JPH2):c.1430C>G (p.Thr477Ser)
|
rs1442070249
|
0.00001
|
|
NM_020433.5(JPH2):c.1436G>T (p.Arg479Leu)
|
rs1229570054
|
0.00001
|
|
NM_020433.5(JPH2):c.1460C>A (p.Pro487Gln)
|
rs1413584228
|
0.00001
|
|
NM_020433.5(JPH2):c.1508A>G (p.Lys503Arg)
|
rs1457124939
|
0.00001
|
|
NM_020433.5(JPH2):c.1589C>T (p.Ala530Val)
|
rs754961884
|
0.00001
|
|
NM_020433.5(JPH2):c.1603C>A (p.Pro535Thr)
|
rs908217758
|
0.00001
|
|
NM_020433.5(JPH2):c.1690C>T (p.Gln564Ter)
|
rs1185542895
|
0.00001
|
|
NM_020433.5(JPH2):c.1718C>T (p.Thr573Ile)
|
rs1316615185
|
0.00001
|
|
NM_020433.5(JPH2):c.1727C>T (p.Pro576Leu)
|
rs1381167166
|
0.00001
|
|
NM_020433.5(JPH2):c.1729G>A (p.Glu577Lys)
|
rs181096982
|
0.00001
|
|
NM_020433.5(JPH2):c.1753C>T (p.Pro585Ser)
|
rs745760392
|
0.00001
|
|
NM_020433.5(JPH2):c.1781C>T (p.Ser594Phe)
|
rs1036911295
|
0.00001
|
|
NM_020433.5(JPH2):c.1838A>G (p.Glu613Gly)
|
rs753914193
|
0.00001
|
|
NM_020433.5(JPH2):c.1846C>T (p.Arg616Cys)
|
rs543276833
|
0.00001
|
|
NM_020433.5(JPH2):c.1862A>G (p.Lys621Arg)
|
rs2072184846
|
0.00001
|
|
NM_020433.5(JPH2):c.1901G>A (p.Arg634Lys)
|
rs759806993
|
0.00001
|
|
NM_020433.5(JPH2):c.1948G>A (p.Ala650Thr)
|
rs111319388
|
0.00001
|
|
NM_020433.5(JPH2):c.1982C>A (p.Ala661Glu)
|
rs1026714361
|
0.00001
|
|
NM_020433.5(JPH2):c.1991C>T (p.Ala664Val)
|
rs766295044
|
0.00001
|
|
NM_020433.5(JPH2):c.220A>G (p.Ile74Val)
|
rs1197530646
|
0.00001
|
|
NM_020433.5(JPH2):c.226A>G (p.Thr76Ala)
|
rs764474492
|
0.00001
|
|
NM_020433.5(JPH2):c.277C>T (p.Arg93Cys)
|
rs747893109
|
0.00001
|
|
NM_020433.5(JPH2):c.290G>A (p.Arg97Gln)
|
rs1188450169
|
0.00001
|
|
NM_020433.5(JPH2):c.302G>A (p.Ser101Asn)
|
rs1281048375
|
0.00001
|
|
NM_020433.5(JPH2):c.385T>G (p.Tyr129Asp)
|
rs777856415
|
0.00001
|
|
NM_020433.5(JPH2):c.406G>A (p.Gly136Ser)
|
rs767281714
|
0.00001
|
|
NM_020433.5(JPH2):c.443C>T (p.Pro148Leu)
|
rs772582964
|
0.00001
|
|
NM_020433.5(JPH2):c.458T>C (p.Val153Ala)
|
rs776045429
|
0.00001
|
|
NM_020433.5(JPH2):c.515A>G (p.Asn172Ser)
|
rs1170915460
|
0.00001
|
|
NM_020433.5(JPH2):c.535T>C (p.Ser179Pro)
|
rs1272379812
|
0.00001
|
|
NM_020433.5(JPH2):c.575C>T (p.Ser192Leu)
|
rs1481973487
|
0.00001
|
|
NM_020433.5(JPH2):c.611T>G (p.Leu204Arg)
|
rs1369796322
|
0.00001
|
|
NM_020433.5(JPH2):c.620A>G (p.Asn207Ser)
|
rs976272461
|
0.00001
|
|
NM_020433.5(JPH2):c.641C>A (p.Ala214Glu)
|
rs952147058
|
0.00001
|
|
NM_020433.5(JPH2):c.655G>T (p.Gly219Cys)
|
rs1251565277
|
0.00001
|
|
NM_020433.5(JPH2):c.665A>G (p.Gln222Arg)
|
rs766395991
|
0.00001
|
|
NM_020433.5(JPH2):c.723C>G (p.Ser241Arg)
|
rs587782952
|
0.00001
|
|
NM_020433.5(JPH2):c.769G>A (p.Ala257Thr)
|
rs866617430
|
0.00001
|
|
NM_020433.5(JPH2):c.782C>T (p.Ala261Val)
|
rs2072597044
|
0.00001
|
|
NM_020433.5(JPH2):c.833C>G (p.Pro278Arg)
|
rs1226206290
|
0.00001
|
|
NM_020433.5(JPH2):c.838G>A (p.Glu280Lys)
|
rs748282723
|
0.00001
|
|
NM_020433.5(JPH2):c.854C>A (p.Ala285Asp)
|
rs1252094258
|
0.00001
|
|
NM_020433.5(JPH2):c.962A>G (p.Asn321Ser)
|
rs373731005
|
0.00001
|
|
NM_020433.5(JPH2):c.968G>A (p.Arg323His)
|
rs778739555
|
0.00001
|
|
NM_021167.5(GATAD1):c.151G>T (p.Gly51Trp)
|
rs1320172026
|
0.00001
|
|
NM_021167.5(GATAD1):c.22A>T (p.Thr8Ser)
|
rs1360888877
|
0.00001
|
|
NM_021167.5(GATAD1):c.299A>G (p.Tyr100Cys)
|
rs200072145
|
0.00001
|
|
NM_021167.5(GATAD1):c.308C>T (p.Ala103Val)
|
rs374329900
|
0.00001
|
|
NM_021167.5(GATAD1):c.311C>T (p.Pro104Leu)
|
rs768140033
|
0.00001
|
|
NM_021167.5(GATAD1):c.431A>G (p.Tyr144Cys)
|
rs200584566
|
0.00001
|
|
NM_021167.5(GATAD1):c.466T>G (p.Ser156Ala)
|
rs754965302
|
0.00001
|
|
NM_021167.5(GATAD1):c.515G>C (p.Gly172Ala)
|
rs1237515001
|
0.00001
|
|
NM_021167.5(GATAD1):c.611A>G (p.Tyr204Cys)
|
rs922487847
|
0.00001
|
|
NM_022114.4(PRDM16):c.1000G>A (p.Gly334Ser)
|
rs1382162421
|
0.00001
|
|
NM_022114.4(PRDM16):c.1006C>T (p.Arg336Cys)
|
rs748880850
|
0.00001
|
|
NM_022114.4(PRDM16):c.1012G>A (p.Glu338Lys)
|
rs1238631051
|
0.00001
|
|
NM_022114.4(PRDM16):c.1070G>A (p.Arg357His)
|
rs1182753304
|
0.00001
|
|
NM_022114.4(PRDM16):c.1072T>A (p.Ser358Thr)
|
rs1451316777
|
0.00001
|
|
NM_022114.4(PRDM16):c.107A>C (p.Asp36Ala)
|
rs746503102
|
0.00001
|
|
NM_022114.4(PRDM16):c.109G>A (p.Glu37Lys)
|
rs369539275
|
0.00001
|
|
NM_022114.4(PRDM16):c.1286G>A (p.Gly429Asp)
|
rs749740251
|
0.00001
|
|
NM_022114.4(PRDM16):c.1325G>A (p.Arg442Gln)
|
rs760272889
|
0.00001
|
|
NM_022114.4(PRDM16):c.1355C>T (p.Thr452Met)
|
rs781154573
|
0.00001
|
|
NM_022114.4(PRDM16):c.1481A>C (p.His494Pro)
|
rs754016475
|
0.00001
|
|
NM_022114.4(PRDM16):c.1484C>T (p.Pro495Leu)
|
rs779190595
|
0.00001
|
|
NM_022114.4(PRDM16):c.1508C>T (p.Ala503Val)
|
rs1012036612
|
0.00001
|
|
NM_022114.4(PRDM16):c.1549A>G (p.Ile517Val)
|
rs759740047
|
0.00001
|
|
NM_022114.4(PRDM16):c.1573C>T (p.Arg525Trp)
|
rs369644938
|
0.00001
|
|
NM_022114.4(PRDM16):c.1633G>A (p.Ala545Thr)
|
rs763268700
|
0.00001
|
|
NM_022114.4(PRDM16):c.172G>A (p.Glu58Lys)
|
rs972134115
|
0.00001
|
|
NM_022114.4(PRDM16):c.1780A>G (p.Arg594Gly)
|
rs371292826
|
0.00001
|
|
NM_022114.4(PRDM16):c.1781G>C (p.Arg594Thr)
|
rs773722995
|
0.00001
|
|
NM_022114.4(PRDM16):c.1789G>A (p.Asp597Asn)
|
rs753255714
|
0.00001
|
|
NM_022114.4(PRDM16):c.1868C>T (p.Ser623Leu)
|
rs758659393
|
0.00001
|
|
NM_022114.4(PRDM16):c.1907A>G (p.Asp636Gly)
|
rs752799586
|
0.00001
|
|
NM_022114.4(PRDM16):c.1972G>C (p.Ala658Pro)
|
rs760438677
|
0.00001
|
|
NM_022114.4(PRDM16):c.1976C>T (p.Pro659Leu)
|
rs533776622
|
0.00001
|
|
NM_022114.4(PRDM16):c.1981A>G (p.Ser661Gly)
|
rs1453953544
|
0.00001
|
|
NM_022114.4(PRDM16):c.2038G>A (p.Glu680Lys)
|
rs528536647
|
0.00001
|
|
NM_022114.4(PRDM16):c.2057C>T (p.Thr686Met)
|
rs868332674
|
0.00001
|
|
NM_022114.4(PRDM16):c.2066C>G (p.Ala689Gly)
|
rs577251077
|
0.00001
|
|
NM_022114.4(PRDM16):c.2068G>A (p.Gly690Arg)
|
rs1408714731
|
0.00001
|
|
NM_022114.4(PRDM16):c.2200C>T (p.Pro734Ser)
|
rs753162594
|
0.00001
|
|
NM_022114.4(PRDM16):c.2264C>A (p.Pro755Gln)
|
rs969598014
|
0.00001
|
|
NM_022114.4(PRDM16):c.229G>C (p.Asp77His)
|
rs374449916
|
0.00001
|
|
NM_022114.4(PRDM16):c.2362A>T (p.Met788Leu)
|
rs768208960
|
0.00001
|
|
NM_022114.4(PRDM16):c.2428C>T (p.Arg810Trp)
|
rs776055411
|
0.00001
|
|
NM_022114.4(PRDM16):c.2434C>T (p.Arg812Cys)
|
rs876657960
|
0.00001
|
|
NM_022114.4(PRDM16):c.2447A>G (p.Asn816Ser)
|
rs397514743
|
0.00001
|
|
NM_022114.4(PRDM16):c.2459G>A (p.Arg820Gln)
|
rs772528427
|
0.00001
|
|
NM_022114.4(PRDM16):c.2491C>T (p.Arg831Cys)
|
rs1392945429
|
0.00001
|
|
NM_022114.4(PRDM16):c.2509G>A (p.Glu837Lys)
|
rs1343697961
|
0.00001
|
|
NM_022114.4(PRDM16):c.2524G>C (p.Val842Leu)
|
rs527355817
|
0.00001
|
|
NM_022114.4(PRDM16):c.2587A>G (p.Met863Val)
|
rs1489156449
|
0.00001
|
|
NM_022114.4(PRDM16):c.2662C>T (p.Arg888Trp)
|
rs1208513057
|
0.00001
|
|
NM_022114.4(PRDM16):c.2702T>C (p.Ile901Thr)
|
rs1482371535
|
0.00001
|
|
NM_022114.4(PRDM16):c.2771C>G (p.Pro924Arg)
|
rs776849795
|
0.00001
|
|
NM_022114.4(PRDM16):c.278G>A (p.Gly93Glu)
|
rs1447130590
|
0.00001
|
|
NM_022114.4(PRDM16):c.3044G>A (p.Arg1015His)
|
rs758654133
|
0.00001
|
|
NM_022114.4(PRDM16):c.3091G>A (p.Glu1031Lys)
|
rs373883664
|
0.00001
|
|
NM_022114.4(PRDM16):c.3131T>C (p.Leu1044Pro)
|
rs767844702
|
0.00001
|
|
NM_022114.4(PRDM16):c.3176C>T (p.Ser1059Leu)
|
rs774463414
|
0.00001
|
|
NM_022114.4(PRDM16):c.3194T>C (p.Leu1065Ser)
|
rs1410844593
|
0.00001
|
|
NM_022114.4(PRDM16):c.3248G>C (p.Ser1083Thr)
|
rs773415200
|
0.00001
|
|
NM_022114.4(PRDM16):c.3268A>G (p.Thr1090Ala)
|
rs776903233
|
0.00001
|
|
NM_022114.4(PRDM16):c.3281A>G (p.Lys1094Arg)
|
rs947863770
|
0.00001
|
|
NM_022114.4(PRDM16):c.3286G>A (p.Ala1096Thr)
|
rs374562445
|
0.00001
|
|
NM_022114.4(PRDM16):c.3290A>G (p.Asp1097Gly)
|
rs777907752
|
0.00001
|
|
NM_022114.4(PRDM16):c.3320G>A (p.Cys1107Tyr)
|
rs1220618976
|
0.00001
|
|
NM_022114.4(PRDM16):c.3427G>A (p.Val1143Met)
|
rs200515585
|
0.00001
|
|
NM_022114.4(PRDM16):c.3431C>A (p.Ser1144Tyr)
|
rs755257030
|
0.00001
|
|
NM_022114.4(PRDM16):c.3454G>A (p.Ala1152Thr)
|
rs776229208
|
0.00001
|
|
NM_022114.4(PRDM16):c.3460G>A (p.Glu1154Lys)
|
rs999685090
|
0.00001
|
|
NM_022114.4(PRDM16):c.3461A>C (p.Glu1154Ala)
|
rs527844629
|
0.00001
|
|
NM_022114.4(PRDM16):c.3538G>A (p.Glu1180Lys)
|
rs763267613
|
0.00001
|
|
NM_022114.4(PRDM16):c.3563C>T (p.Pro1188Leu)
|
rs572604983
|
0.00001
|
|
NM_022114.4(PRDM16):c.3569C>T (p.Pro1190Leu)
|
rs755588843
|
0.00001
|
|
NM_022114.4(PRDM16):c.3580A>G (p.Lys1194Glu)
|
rs748925025
|
0.00001
|
|
NM_022114.4(PRDM16):c.3592C>A (p.Leu1198Ile)
|
rs778899500
|
0.00001
|
|
NM_022114.4(PRDM16):c.3596G>A (p.Arg1199His)
|
rs772196588
|
0.00001
|
|
NM_022114.4(PRDM16):c.359C>T (p.Ala120Val)
|
rs770130107
|
0.00001
|
|
NM_022114.4(PRDM16):c.3658G>A (p.Ala1220Thr)
|
rs764414998
|
0.00001
|
|
NM_022114.4(PRDM16):c.3667C>T (p.His1223Tyr)
|
rs1485523092
|
0.00001
|
|
NM_022114.4(PRDM16):c.3724G>A (p.Glu1242Lys)
|
rs772460000
|
0.00001
|
|
NM_022114.4(PRDM16):c.379G>A (p.Gly127Arg)
|
rs552204871
|
0.00001
|
|
NM_022114.4(PRDM16):c.410T>C (p.Val137Ala)
|
rs1161500379
|
0.00001
|
|
NM_022114.4(PRDM16):c.412T>C (p.Ser138Pro)
|
rs1346765382
|
0.00001
|
|
NM_022114.4(PRDM16):c.472G>A (p.Val158Met)
|
rs948941830
|
0.00001
|
|
NM_022114.4(PRDM16):c.518G>A (p.Arg173His)
|
rs768419281
|
0.00001
|
|
NM_022114.4(PRDM16):c.628G>A (p.Val210Met)
|
rs760972158
|
0.00001
|
|
NM_022114.4(PRDM16):c.658G>T (p.Val220Leu)
|
rs746597198
|
0.00001
|
|
NM_022114.4(PRDM16):c.737G>A (p.Arg246Gln)
|
rs754853503
|
0.00001
|
|
NM_022114.4(PRDM16):c.755C>T (p.Thr252Met)
|
rs770148632
|
0.00001
|
|
NM_022114.4(PRDM16):c.823G>A (p.Gly275Ser)
|
rs752636134
|
0.00001
|
|
NM_022114.4(PRDM16):c.844G>A (p.Glu282Lys)
|
rs187351394
|
0.00001
|
|
NM_022114.4(PRDM16):c.866T>C (p.Met289Thr)
|
rs765044618
|
0.00001
|
|
NM_022114.4(PRDM16):c.911C>T (p.Thr304Met)
|
rs377547823
|
0.00001
|
|
NM_022114.4(PRDM16):c.919C>T (p.Arg307Cys)
|
rs774291082
|
0.00001
|
|
NM_022455.5(NSD1):c.4193-10T>C
|
rs774927461
|
0.00001
|
|
NM_022455.5(NSD1):c.6667C>T (p.Pro2223Ser)
|
rs1760070315
|
0.00001
|
|
NM_024334.3(TMEM43):c.1000+2T>C
|
rs748618994
|
0.00001
|
|
NM_024334.3(TMEM43):c.1000+6T>C
|
rs773749788
|
0.00001
|
|
NM_024334.3(TMEM43):c.1037T>C (p.Ile346Thr)
|
rs1286798674
|
0.00001
|
|
NM_024334.3(TMEM43):c.1058T>C (p.Phe353Ser)
|
rs565997790
|
0.00001
|
|
NM_024334.3(TMEM43):c.1067C>T (p.Ala356Val)
|
rs1465084342
|
0.00001
|
|
NM_024334.3(TMEM43):c.1085T>G (p.Leu362Arg)
|
rs756256793
|
0.00001
|
|
NM_024334.3(TMEM43):c.1090G>A (p.Val364Met)
|
rs754236206
|
0.00001
|
|
NM_024334.3(TMEM43):c.1115G>A (p.Arg372Gln)
|
rs749140979
|
0.00001
|
|
NM_024334.3(TMEM43):c.1141G>A (p.Gly381Ser)
|
rs767916602
|
0.00001
|
|
NM_024334.3(TMEM43):c.1177C>T (p.Arg393Trp)
|
rs765762863
|
0.00001
|
|
NM_024334.3(TMEM43):c.1178G>A (p.Arg393Gln)
|
rs758037497
|
0.00001
|
|
NM_024334.3(TMEM43):c.118C>G (p.Leu40Val)
|
rs755682525
|
0.00001
|
|
NM_024334.3(TMEM43):c.136T>C (p.Ser46Pro)
|
rs145510310
|
0.00001
|
|
NM_024334.3(TMEM43):c.13T>C (p.Tyr5His)
|
rs727505249
|
0.00001
|
|
NM_024334.3(TMEM43):c.163-2A>T
|
rs745694031
|
0.00001
|
|
NM_024334.3(TMEM43):c.167G>A (p.Arg56His)
|
rs747164382
|
0.00001
|
|
NM_024334.3(TMEM43):c.178A>T (p.Thr60Ser)
|
rs1695084121
|
0.00001
|
|
NM_024334.3(TMEM43):c.182C>G (p.Ala61Gly)
|
rs1225730180
|
0.00001
|
|
NM_024334.3(TMEM43):c.208C>T (p.Leu70Phe)
|
rs577359875
|
0.00001
|
|
NM_024334.3(TMEM43):c.223G>A (p.Asp75Asn)
|
rs138764471
|
0.00001
|
|
NM_024334.3(TMEM43):c.227G>A (p.Ser76Asn)
|
rs144663367
|
0.00001
|
|
NM_024334.3(TMEM43):c.235A>G (p.Ser79Gly)
|
rs930770110
|
0.00001
|
|
NM_024334.3(TMEM43):c.244C>G (p.Pro82Ala)
|
rs148171303
|
0.00001
|
|
NM_024334.3(TMEM43):c.245C>T (p.Pro82Leu)
|
rs748242385
|
0.00001
|
|
NM_024334.3(TMEM43):c.251A>G (p.Asn84Ser)
|
rs773605236
|
0.00001
|
|
NM_024334.3(TMEM43):c.26G>A (p.Ser9Asn)
|
rs1695062743
|
0.00001
|
|
NM_024334.3(TMEM43):c.275T>C (p.Ile92Thr)
|
rs555913548
|
0.00001
|
|
NM_024334.3(TMEM43):c.329T>C (p.Leu110Pro)
|
rs1553602985
|
0.00001
|
|
NM_024334.3(TMEM43):c.333G>A (p.Pro111=)
|
rs774276092
|
0.00001
|
|
NM_024334.3(TMEM43):c.344T>C (p.Leu115Pro)
|
rs376182664
|
0.00001
|
|
NM_024334.3(TMEM43):c.346C>T (p.Arg116Trp)
|
rs752588115
|
0.00001
|
|
NM_024334.3(TMEM43):c.380C>T (p.Thr127Ile)
|
rs754381041
|
0.00001
|
|
NM_024334.3(TMEM43):c.401C>A (p.Thr134Asn)
|
rs778405877
|
0.00001
|
|
NM_024334.3(TMEM43):c.47A>T (p.Lys16Ile)
|
rs770619613
|
0.00001
|
|
NM_024334.3(TMEM43):c.494T>C (p.Ile165Thr)
|
rs1339170856
|
0.00001
|
|
NM_024334.3(TMEM43):c.497G>C (p.Gly166Ala)
|
rs767516734
|
0.00001
|
|
NM_024334.3(TMEM43):c.49G>A (p.Val17Ile)
|
rs370973153
|
0.00001
|
|
NM_024334.3(TMEM43):c.500A>G (p.His167Arg)
|
rs775986881
|
0.00001
|
|
NM_024334.3(TMEM43):c.515C>T (p.Ala172Val)
|
rs553757132
|
0.00001
|
|
NM_024334.3(TMEM43):c.520G>A (p.Ala174Thr)
|
rs397517385
|
0.00001
|
|
NM_024334.3(TMEM43):c.530C>T (p.Ser177Leu)
|
rs1167948235
|
0.00001
|
|
NM_024334.3(TMEM43):c.542C>T (p.Thr181Ile)
|
rs1695131103
|
0.00001
|
|
NM_024334.3(TMEM43):c.548C>G (p.Pro183Arg)
|
rs746116143
|
0.00001
|
|
NM_024334.3(TMEM43):c.560T>C (p.Ile187Thr)
|
rs772317634
|
0.00001
|
|
NM_024334.3(TMEM43):c.592G>A (p.Asp198Asn)
|
rs1383512011
|
0.00001
|
|
NM_024334.3(TMEM43):c.606del (p.Phe203fs)
|
rs753024549
|
0.00001
|
|
NM_024334.3(TMEM43):c.62C>T (p.Ser21Phe)
|
rs794729183
|
0.00001
|
|
NM_024334.3(TMEM43):c.646G>A (p.Val216Met)
|
rs143735210
|
0.00001
|
|
NM_024334.3(TMEM43):c.658C>T (p.Arg220Cys)
|
rs562700595
|
0.00001
|
|
NM_024334.3(TMEM43):c.659G>A (p.Arg220His)
|
rs570836197
|
0.00001
|
|
NM_024334.3(TMEM43):c.65dup (p.Pro23fs)
|
rs1300909566
|
0.00001
|
|
NM_024334.3(TMEM43):c.662G>A (p.Arg221His)
|
rs774735646
|
0.00001
|
|
NM_024334.3(TMEM43):c.664G>A (p.Gly222Arg)
|
rs746183974
|
0.00001
|
|
NM_024334.3(TMEM43):c.686A>G (p.Glu229Gly)
|
rs764671990
|
0.00001
|
|
NM_024334.3(TMEM43):c.700C>T (p.Pro234Ser)
|
rs374202326
|
0.00001
|
|
NM_024334.3(TMEM43):c.704A>C (p.Glu235Ala)
|
rs751419150
|
0.00001
|
|
NM_024334.3(TMEM43):c.705+5G>T
|
rs754716462
|
0.00001
|
|
NM_024334.3(TMEM43):c.734A>G (p.Tyr245Cys)
|
rs150478052
|
0.00001
|
|
NM_024334.3(TMEM43):c.751G>A (p.Asp251Asn)
|
rs375481688
|
0.00001
|
|
NM_024334.3(TMEM43):c.781-3C>T
|
rs780142044
|
0.00001
|
|
NM_024334.3(TMEM43):c.803G>T (p.Arg268Leu)
|
rs769969149
|
0.00001
|
|
NM_024334.3(TMEM43):c.859C>T (p.His287Tyr)
|
rs780299346
|
0.00001
|
|
NM_024334.3(TMEM43):c.893A>G (p.His298Arg)
|
rs1285837389
|
0.00001
|
|
NM_024334.3(TMEM43):c.895A>G (p.Arg299Gly)
|
rs757038162
|
0.00001
|
|
NM_024334.3(TMEM43):c.940G>C (p.Ala314Pro)
|
rs1431861933
|
0.00001
|
|
NM_024334.3(TMEM43):c.959T>G (p.Phe320Cys)
|
rs886787374
|
0.00001
|
|
NM_024334.3(TMEM43):c.961A>G (p.Met321Val)
|
rs397517387
|
0.00001
|
|
NM_024334.3(TMEM43):c.973C>T (p.Leu325Phe)
|
rs373644386
|
0.00001
|
|
NM_024334.3(TMEM43):c.982C>T (p.Arg328Trp)
|
rs561883271
|
0.00001
|
|
NM_024334.3(TMEM43):c.983G>A (p.Arg328Gln)
|
rs185611706
|
0.00001
|
|
NM_024334.3(TMEM43):c.997T>G (p.Leu333Val)
|
rs1487754536
|
0.00001
|
|
NM_024422.6(DSC2):c.1024A>G (p.Ile342Val)
|
rs746745677
|
0.00001
|
|
NM_024422.6(DSC2):c.1039G>T (p.Asp347Tyr)
|
rs1214725211
|
0.00001
|
|
NM_024422.6(DSC2):c.1057C>A (p.Pro353Thr)
|
rs999869714
|
0.00001
|
|
NM_024422.6(DSC2):c.1081G>A (p.Val361Met)
|
rs751810874
|
0.00001
|
|
NM_024422.6(DSC2):c.1103C>T (p.Thr368Ile)
|
rs538663626
|
0.00001
|
|
NM_024422.6(DSC2):c.1120T>G (p.Leu374Val)
|
rs1987251997
|
0.00001
|
|
NM_024422.6(DSC2):c.1124G>A (p.Arg375Gln)
|
rs770412621
|
0.00001
|
|
NM_024422.6(DSC2):c.1172C>A (p.Ala391Asp)
|
rs1300215880
|
0.00001
|
|
NM_024422.6(DSC2):c.1238A>G (p.Asn413Ser)
|
rs1293927459
|
0.00001
|
|
NM_024422.6(DSC2):c.1309G>C (p.Val437Leu)
|
rs775579662
|
0.00001
|
|
NM_024422.6(DSC2):c.1315A>G (p.Asn439Asp)
|
rs148712725
|
0.00001
|
|
NM_024422.6(DSC2):c.133G>A (p.Ala45Thr)
|
rs1467311353
|
0.00001
|
|
NM_024422.6(DSC2):c.1399G>C (p.Glu467Gln)
|
rs1208470556
|
0.00001
|
|
NM_024422.6(DSC2):c.1402G>A (p.Gly468Ser)
|
rs149316362
|
0.00001
|
|
NM_024422.6(DSC2):c.1421C>T (p.Pro474Leu)
|
rs776398212
|
0.00001
|
|
NM_024422.6(DSC2):c.1435C>T (p.Arg479Cys)
|
rs138761522
|
0.00001
|
|
NM_024422.6(DSC2):c.1438A>C (p.Met480Leu)
|
rs370616107
|
0.00001
|
|
NM_024422.6(DSC2):c.1469G>A (p.Ser490Asn)
|
rs780446276
|
0.00001
|
|
NM_024422.6(DSC2):c.146T>C (p.Val49Ala)
|
rs1275514075
|
0.00001
|
|
NM_024422.6(DSC2):c.14G>T (p.Arg5Leu)
|
rs899009158
|
0.00001
|
|
NM_024422.6(DSC2):c.1506T>A (p.Ser502Arg)
|
rs756803622
|
0.00001
|
|
NM_024422.6(DSC2):c.1520+6T>C
|
rs1029243199
|
0.00001
|
|
NM_024422.6(DSC2):c.1521-18A>G
|
rs886506694
|
0.00001
|
|
NM_024422.6(DSC2):c.154+6G>A
|
rs778131915
|
0.00001
|
|
NM_024422.6(DSC2):c.1547G>A (p.Gly516Glu)
|
rs1402893994
|
0.00001
|
|
NM_024422.6(DSC2):c.155-3C>T
|
rs745988877
|
0.00001
|
|
NM_024422.6(DSC2):c.1568A>G (p.Asn523Ser)
|
rs766187198
|
0.00001
|
|
NM_024422.6(DSC2):c.1577C>T (p.Ser526Leu)
|
rs887847751
|
0.00001
|
|
NM_024422.6(DSC2):c.1581C>G (p.Ile527Met)
|
rs750329563
|
0.00001
|
|
NM_024422.6(DSC2):c.1627G>A (p.Gly543Ser)
|
rs1418248949
|
0.00001
|
|
NM_024422.6(DSC2):c.1628G>A (p.Gly543Asp)
|
rs977709312
|
0.00001
|
|
NM_024422.6(DSC2):c.1634A>G (p.Tyr545Cys)
|
rs776917359
|
0.00001
|
|
NM_024422.6(DSC2):c.1678A>G (p.Thr560Ala)
|
rs1314129882
|
0.00001
|
|
NM_024422.6(DSC2):c.1679C>T (p.Thr560Met)
|
rs772775522
|
0.00001
|
|
NM_024422.6(DSC2):c.1693A>G (p.Ile565Val)
|
rs780712159
|
0.00001
|
|
NM_024422.6(DSC2):c.1697T>C (p.Ile566Thr)
|
rs1399123480
|
0.00001
|
|
NM_024422.6(DSC2):c.1712A>G (p.Asn571Ser)
|
rs1462605063
|
0.00001
|
|
NM_024422.6(DSC2):c.1781T>C (p.Ile594Thr)
|
rs915888072
|
0.00001
|
|
NM_024422.6(DSC2):c.1783G>A (p.Val595Ile)
|
rs1447974524
|
0.00001
|
|
NM_024422.6(DSC2):c.1796C>G (p.Pro599Arg)
|
rs377384219
|
0.00001
|
|
NM_024422.6(DSC2):c.1906T>G (p.Ser636Ala)
|
rs1191039477
|
0.00001
|
|
NM_024422.6(DSC2):c.1907C>T (p.Ser636Phe)
|
rs764355417
|
0.00001
|
|
NM_024422.6(DSC2):c.1910A>G (p.Tyr637Cys)
|
rs758990451
|
0.00001
|
|
NM_024422.6(DSC2):c.1916A>G (p.Asn639Ser)
|
rs369281243
|
0.00001
|
|
NM_024422.6(DSC2):c.1924C>G (p.Pro642Ala)
|
rs368353349
|
0.00001
|
|
NM_024422.6(DSC2):c.1996G>A (p.Val666Ile)
|
rs758646191
|
0.00001
|
|
NM_024422.6(DSC2):c.2010C>A (p.Asp670Glu)
|
rs1423264468
|
0.00001
|
|
NM_024422.6(DSC2):c.2039G>T (p.Arg680Leu)
|
rs374002111
|
0.00001
|
|
NM_024422.6(DSC2):c.2047C>A (p.Pro683Thr)
|
rs1386709734
|
0.00001
|
|
NM_024422.6(DSC2):c.2068G>T (p.Val690Leu)
|
rs768784624
|
0.00001
|
|
NM_024422.6(DSC2):c.2082G>T (p.Lys694Asn)
|
rs397517397
|
0.00001
|
|
NM_024422.6(DSC2):c.2125T>G (p.Cys709Gly)
|
rs755534194
|
0.00001
|
|
NM_024422.6(DSC2):c.2147G>C (p.Cys716Ser)
|
rs764008863
|
0.00001
|
|
NM_024422.6(DSC2):c.2206A>G (p.Asn736Asp)
|
rs371950232
|
0.00001
|
|
NM_024422.6(DSC2):c.2215G>T (p.Val739Leu)
|
rs780610767
|
0.00001
|
|
NM_024422.6(DSC2):c.2231C>T (p.Ala744Val)
|
rs758269321
|
0.00001
|
|
NM_024422.6(DSC2):c.2258C>T (p.Ala753Val)
|
rs1217851416
|
0.00001
|
|
NM_024422.6(DSC2):c.2294C>T (p.Ala765Val)
|
rs771628564
|
0.00001
|
|
NM_024422.6(DSC2):c.2300G>A (p.Gly767Glu)
|
rs772898155
|
0.00001
|
|
NM_024422.6(DSC2):c.2318G>C (p.Gly773Ala)
|
rs749174176
|
0.00001
|
|
NM_024422.6(DSC2):c.2328C>G (p.Ile776Met)
|
rs1789054
|
0.00001
|
|
NM_024422.6(DSC2):c.2353G>A (p.Glu785Lys)
|
rs752873618
|
0.00001
|
|
NM_024422.6(DSC2):c.2354A>G (p.Glu785Gly)
|
rs769747496
|
0.00001
|
|
NM_024422.6(DSC2):c.2396G>A (p.Gly799Glu)
|
rs794728071
|
0.00001
|
|
NM_024422.6(DSC2):c.2408A>G (p.His803Arg)
|
rs150124218
|
0.00001
|
|
NM_024422.6(DSC2):c.2441C>T (p.Thr814Met)
|
rs756497616
|
0.00001
|
|
NM_024422.6(DSC2):c.2446G>A (p.Val816Met)
|
rs377700521
|
0.00001
|
|
NM_024422.6(DSC2):c.2452A>G (p.Asn818Asp)
|
rs1454999415
|
0.00001
|
|
NM_024422.6(DSC2):c.2512G>A (p.Val838Met)
|
rs1986695514
|
0.00001
|
|
NM_024422.6(DSC2):c.2545C>T (p.His849Tyr)
|
rs1312909126
|
0.00001
|
|
NM_024422.6(DSC2):c.2588G>A (p.Gly863Glu)
|
rs778423904
|
0.00001
|
|
NM_024422.6(DSC2):c.2597C>G (p.Ala866Gly)
|
rs760363798
|
0.00001
|
|
NM_024422.6(DSC2):c.2623C>T (p.Arg875Ter)
|
rs727504823
|
0.00001
|
|
NM_024422.6(DSC2):c.2626C>G (p.Gln876Glu)
|
rs727504906
|
0.00001
|
|
NM_024422.6(DSC2):c.2642T>A (p.Leu881His)
|
rs1231247825
|
0.00001
|
|
NM_024422.6(DSC2):c.2694C>A (p.Cys898Ter)
|
rs1986684188
|
0.00001
|
|
NM_024422.6(DSC2):c.325A>C (p.Ile109Leu)
|
rs1256252633
|
0.00001
|
|
NM_024422.6(DSC2):c.327A>G (p.Ile109Met)
|
rs373305929
|
0.00001
|
|
NM_024422.6(DSC2):c.355-3G>T
|
rs975997446
|
0.00001
|
|
NM_024422.6(DSC2):c.363G>T (p.Lys121Asn)
|
rs762877422
|
0.00001
|
|
NM_024422.6(DSC2):c.373A>G (p.Thr125Ala)
|
rs369061469
|
0.00001
|
|
NM_024422.6(DSC2):c.425G>C (p.Cys142Ser)
|
rs1478081073
|
0.00001
|
|
NM_024422.6(DSC2):c.448G>C (p.Gly150Arg)
|
rs1220979594
|
0.00001
|
|
NM_024422.6(DSC2):c.474+5C>T
|
rs397517400
|
0.00001
|
|
NM_024422.6(DSC2):c.478C>A (p.Gln160Lys)
|
rs374844700
|
0.00001
|
|
NM_024422.6(DSC2):c.47G>A (p.Arg16Gln)
|
rs869025386
|
0.00001
|
|
NM_024422.6(DSC2):c.488C>T (p.Thr163Met)
|
rs758759298
|
0.00001
|
|
NM_024422.6(DSC2):c.506T>C (p.Ile169Thr)
|
rs1185834011
|
0.00001
|
|
NM_024422.6(DSC2):c.508T>C (p.Tyr170His)
|
rs1484093917
|
0.00001
|
|
NM_024422.6(DSC2):c.509A>G (p.Tyr170Cys)
|
rs759910399
|
0.00001
|
|
NM_024422.6(DSC2):c.517A>T (p.Ile173Leu)
|
rs766855728
|
0.00001
|
|
NM_024422.6(DSC2):c.537C>A (p.Asp179Glu)
|
rs1987521149
|
0.00001
|
|
NM_024422.6(DSC2):c.549G>T (p.Arg183=)
|
rs774025474
|
0.00001
|
|
NM_024422.6(DSC2):c.608G>A (p.Arg203His)
|
rs758527425
|
0.00001
|
|
NM_024422.6(DSC2):c.617A>G (p.Tyr206Cys)
|
rs753004247
|
0.00001
|
|
NM_024422.6(DSC2):c.62C>A (p.Thr21Asn)
|
rs931909783
|
0.00001
|
|
NM_024422.6(DSC2):c.631-3C>T
|
rs1262481741
|
0.00001
|
|
NM_024422.6(DSC2):c.638C>T (p.Ala213Val)
|
rs1299475740
|
0.00001
|
|
NM_024422.6(DSC2):c.646A>G (p.Thr216Ala)
|
rs755298693
|
0.00001
|
|
NM_024422.6(DSC2):c.697A>G (p.Ile233Val)
|
rs886039077
|
0.00001
|
|
NM_024422.6(DSC2):c.70A>G (p.Ile24Val)
|
rs1228372400
|
0.00001
|
|
NM_024422.6(DSC2):c.746C>A (p.Thr249Asn)
|
rs1987447409
|
0.00001
|
|
NM_024422.6(DSC2):c.836G>A (p.Arg279His)
|
rs775614779
|
0.00001
|
|
NM_024422.6(DSC2):c.872C>T (p.Ser291Leu)
|
rs755952123
|
0.00001
|
|
NM_024422.6(DSC2):c.880C>A (p.Leu294Ile)
|
rs761796202
|
0.00001
|
|
NM_024422.6(DSC2):c.901A>G (p.Thr301Ala)
|
rs576466497
|
0.00001
|
|
NM_024422.6(DSC2):c.949G>A (p.Asp317Asn)
|
rs769219956
|
0.00001
|
|
NM_032578.4(MYPN):c.1019C>G (p.Ser340Cys)
|
rs777080663
|
0.00001
|
|
NM_032578.4(MYPN):c.103G>T (p.Ala35Ser)
|
rs1287546364
|
0.00001
|
|
NM_032578.4(MYPN):c.1052C>T (p.Ser351Leu)
|
rs747136869
|
0.00001
|
|
NM_032578.4(MYPN):c.106G>C (p.Glu36Gln)
|
rs768904251
|
0.00001
|
|
NM_032578.4(MYPN):c.1081G>T (p.Val361Phe)
|
rs527628617
|
0.00001
|
|
NM_032578.4(MYPN):c.1109C>T (p.Pro370Leu)
|
rs749986338
|
0.00001
|
|
NM_032578.4(MYPN):c.112T>A (p.Ser38Thr)
|
rs761950155
|
0.00001
|
|
NM_032578.4(MYPN):c.113C>T (p.Ser38Phe)
|
rs549116983
|
0.00001
|
|
NM_032578.4(MYPN):c.121C>T (p.Pro41Ser)
|
rs759400657
|
0.00001
|
|
NM_032578.4(MYPN):c.1225C>T (p.Arg409Cys)
|
rs757431496
|
0.00001
|
|
NM_032578.4(MYPN):c.1291A>G (p.Ile431Val)
|
rs2042742128
|
0.00001
|
|
NM_032578.4(MYPN):c.1306G>A (p.Val436Met)
|
rs1172083148
|
0.00001
|
|
NM_032578.4(MYPN):c.133G>C (p.Gly45Arg)
|
rs1297861595
|
0.00001
|
|
NM_032578.4(MYPN):c.1372G>A (p.Val458Ile)
|
rs757231554
|
0.00001
|
|
NM_032578.4(MYPN):c.1436C>G (p.Pro479Arg)
|
rs770366905
|
0.00001
|
|
NM_032578.4(MYPN):c.1446G>T (p.Arg482Ser)
|
rs1016349010
|
0.00001
|
|
NM_032578.4(MYPN):c.1452A>C (p.Leu484Phe)
|
rs749716693
|
0.00001
|
|
NM_032578.4(MYPN):c.1512G>T (p.Glu504Asp)
|
rs935247269
|
0.00001
|
|
NM_032578.4(MYPN):c.1550C>A (p.Ala517Glu)
|
rs1052323892
|
0.00001
|
|
NM_032578.4(MYPN):c.1555A>G (p.Asn519Asp)
|
rs768901494
|
0.00001
|
|
NM_032578.4(MYPN):c.1594G>A (p.Val532Met)
|
rs760362375
|
0.00001
|
|
NM_032578.4(MYPN):c.1609G>T (p.Asp537Tyr)
|
rs745748075
|
0.00001
|
|
NM_032578.4(MYPN):c.1624G>A (p.Gly542Arg)
|
rs768390862
|
0.00001
|
|
NM_032578.4(MYPN):c.1649C>T (p.Thr550Ile)
|
rs761571128
|
0.00001
|
|
NM_032578.4(MYPN):c.1672C>T (p.Pro558Ser)
|
rs767709261
|
0.00001
|
|
NM_032578.4(MYPN):c.1681T>C (p.Ser561Pro)
|
rs1554845447
|
0.00001
|
|
NM_032578.4(MYPN):c.1696G>C (p.Glu566Gln)
|
rs1388806519
|
0.00001
|
|
NM_032578.4(MYPN):c.1763C>T (p.Pro588Leu)
|
rs199936299
|
0.00001
|
|
NM_032578.4(MYPN):c.1771A>G (p.Ser591Gly)
|
rs767800921
|
0.00001
|
|
NM_032578.4(MYPN):c.1830A>C (p.Glu610Asp)
|
rs769460067
|
0.00001
|
|
NM_032578.4(MYPN):c.1876G>A (p.Asp626Asn)
|
rs754064567
|
0.00001
|
|
NM_032578.4(MYPN):c.1879T>A (p.Ser627Thr)
|
rs1282443178
|
0.00001
|
|
NM_032578.4(MYPN):c.1888G>A (p.Glu630Lys)
|
rs794729072
|
0.00001
|
|
NM_032578.4(MYPN):c.1892G>A (p.Arg631Lys)
|
rs1057520698
|
0.00001
|
|
NM_032578.4(MYPN):c.1918C>T (p.Pro640Ser)
|
rs908222513
|
0.00001
|
|
NM_032578.4(MYPN):c.1945C>G (p.Pro649Ala)
|
rs761893396
|
0.00001
|
|
NM_032578.4(MYPN):c.1948C>T (p.Pro650Ser)
|
rs763195372
|
0.00001
|
|
NM_032578.4(MYPN):c.1970A>G (p.Lys657Arg)
|
rs1283859977
|
0.00001
|
|
NM_032578.4(MYPN):c.2000A>G (p.His667Arg)
|
rs2043186027
|
0.00001
|
|
NM_032578.4(MYPN):c.2008G>A (p.Val670Ile)
|
rs1331409608
|
0.00001
|
|
NM_032578.4(MYPN):c.2051C>G (p.Ser684Cys)
|
rs577089308
|
0.00001
|
|
NM_032578.4(MYPN):c.2095G>A (p.Ala699Thr)
|
rs1386715407
|
0.00001
|
|
NM_032578.4(MYPN):c.2114C>T (p.Thr705Ile)
|
rs768471574
|
0.00001
|
|
NM_032578.4(MYPN):c.212A>G (p.Glu71Gly)
|
rs1161067131
|
0.00001
|
|
NM_032578.4(MYPN):c.2134G>C (p.Ala712Pro)
|
rs876657921
|
0.00001
|
|
NM_032578.4(MYPN):c.2168C>T (p.Pro723Leu)
|
rs550827308
|
0.00001
|
|
NM_032578.4(MYPN):c.2200G>A (p.Ala734Thr)
|
rs927839092
|
0.00001
|
|
NM_032578.4(MYPN):c.2221A>G (p.Ser741Gly)
|
rs2043191140
|
0.00001
|
|
NM_032578.4(MYPN):c.2267G>A (p.Arg756Lys)
|
rs1218456286
|
0.00001
|
|
NM_032578.4(MYPN):c.2273T>C (p.Val758Ala)
|
rs773188742
|
0.00001
|
|
NM_032578.4(MYPN):c.2312A>G (p.Gln771Arg)
|
rs775112774
|
0.00001
|
|
NM_032578.4(MYPN):c.2368A>G (p.Thr790Ala)
|
rs780319735
|
0.00001
|
|
NM_032578.4(MYPN):c.2389T>C (p.Phe797Leu)
|
rs749206570
|
0.00001
|
|
NM_032578.4(MYPN):c.2420T>C (p.Phe807Ser)
|
rs760419556
|
0.00001
|
|
NM_032578.4(MYPN):c.2425C>A (p.Pro809Thr)
|
rs763632315
|
0.00001
|
|
NM_032578.4(MYPN):c.2464C>T (p.Arg822Trp)
|
rs529221329
|
0.00001
|
|
NM_032578.4(MYPN):c.2465G>A (p.Arg822Gln)
|
rs372903698
|
0.00001
|
|
NM_032578.4(MYPN):c.2515G>A (p.Ala839Thr)
|
rs752773452
|
0.00001
|
|
NM_032578.4(MYPN):c.2560T>A (p.Ser854Thr)
|
rs200432306
|
0.00001
|
|
NM_032578.4(MYPN):c.256G>T (p.Asp86Tyr)
|
rs776901756
|
0.00001
|
|
NM_032578.4(MYPN):c.2570C>T (p.Ser857Phe)
|
rs376431940
|
0.00001
|
|
NM_032578.4(MYPN):c.2598G>T (p.Lys866Asn)
|
rs763397921
|
0.00001
|
|
NM_032578.4(MYPN):c.2603C>T (p.Pro868Leu)
|
rs533835950
|
0.00001
|
|
NM_032578.4(MYPN):c.2615A>G (p.Asn872Ser)
|
rs1429733850
|
0.00001
|
|
NM_032578.4(MYPN):c.2629C>T (p.Arg877Cys)
|
rs764042082
|
0.00001
|
|
NM_032578.4(MYPN):c.266A>G (p.Glu89Gly)
|
rs1288647382
|
0.00001
|
|
NM_032578.4(MYPN):c.2693C>A (p.Pro898Gln)
|
rs771428473
|
0.00001
|
|
NM_032578.4(MYPN):c.2693C>T (p.Pro898Leu)
|
rs771428473
|
0.00001
|
|
NM_032578.4(MYPN):c.271G>A (p.Ala91Thr)
|
rs763043084
|
0.00001
|
|
NM_032578.4(MYPN):c.2729A>G (p.Gln910Arg)
|
rs2043464810
|
0.00001
|
|
NM_032578.4(MYPN):c.2764C>T (p.Arg922Cys)
|
rs759367436
|
0.00001
|
|
NM_032578.4(MYPN):c.2802T>A (p.His934Gln)
|
rs752426180
|
0.00001
|
|
NM_032578.4(MYPN):c.2834C>T (p.Pro945Leu)
|
rs1477487826
|
0.00001
|
|
NM_032578.4(MYPN):c.2857C>T (p.His953Tyr)
|
rs1042480350
|
0.00001
|
|
NM_032578.4(MYPN):c.2924A>G (p.Lys975Arg)
|
rs200507694
|
0.00001
|
|
NM_032578.4(MYPN):c.2981T>C (p.Met994Thr)
|
rs786205348
|
0.00001
|
|
NM_032578.4(MYPN):c.3017T>G (p.Ile1006Ser)
|
rs864622711
|
0.00001
|
|
NM_032578.4(MYPN):c.3040G>A (p.Asp1014Asn)
|
rs769591145
|
0.00001
|
|
NM_032578.4(MYPN):c.3060G>A (p.Met1020Ile)
|
rs762642659
|
0.00001
|
|
NM_032578.4(MYPN):c.3074A>G (p.Gln1025Arg)
|
rs759171149
|
0.00001
|
|
NM_032578.4(MYPN):c.3086G>T (p.Ser1029Ile)
|
rs142320290
|
0.00001
|
|
NM_032578.4(MYPN):c.308A>T (p.Asp103Val)
|
rs758026056
|
0.00001
|
|
NM_032578.4(MYPN):c.3136A>C (p.Thr1046Pro)
|
rs374007615
|
0.00001
|
|
NM_032578.4(MYPN):c.3145G>C (p.Gly1049Arg)
|
rs770562444
|
0.00001
|
|
NM_032578.4(MYPN):c.3157A>T (p.Arg1053Trp)
|
rs1447577755
|
0.00001
|
|
NM_032578.4(MYPN):c.3159-3T>C
|
rs778831883
|
0.00001
|
|
NM_032578.4(MYPN):c.3159G>A (p.Arg1053=)
|
rs1292473253
|
0.00001
|
|
NM_032578.4(MYPN):c.3160G>A (p.Gly1054Arg)
|
rs900098416
|
0.00001
|
|
NM_032578.4(MYPN):c.3166T>A (p.Ser1056Thr)
|
rs771847142
|
0.00001
|
|
NM_032578.4(MYPN):c.3206G>A (p.Arg1069His)
|
rs763362861
|
0.00001
|
|
NM_032578.4(MYPN):c.3215G>A (p.Arg1072Gln)
|
rs1315597952
|
0.00001
|
|
NM_032578.4(MYPN):c.3244A>G (p.Met1082Val)
|
rs970434165
|
0.00001
|
|
NM_032578.4(MYPN):c.3277G>A (p.Asp1093Asn)
|
rs747760649
|
0.00001
|
|
NM_032578.4(MYPN):c.3379G>A (p.Gly1127Arg)
|
rs752302519
|
0.00001
|
|
NM_032578.4(MYPN):c.3418G>A (p.Asp1140Asn)
|
rs1328837945
|
0.00001
|
|
NM_032578.4(MYPN):c.342G>C (p.Glu114Asp)
|
rs1271454652
|
0.00001
|
|
NM_032578.4(MYPN):c.3433A>C (p.Lys1145Gln)
|
rs768125215
|
0.00001
|
|
NM_032578.4(MYPN):c.3457G>A (p.Gly1153Arg)
|
rs763805681
|
0.00001
|
|
NM_032578.4(MYPN):c.3502G>A (p.Val1168Met)
|
rs752125039
|
0.00001
|
|
NM_032578.4(MYPN):c.3544G>A (p.Gly1182Ser)
|
rs777875865
|
0.00001
|
|
NM_032578.4(MYPN):c.3565G>A (p.Val1189Met)
|
rs776313364
|
0.00001
|
|
NM_032578.4(MYPN):c.3593T>C (p.Met1198Thr)
|
rs755560876
|
0.00001
|
|
NM_032578.4(MYPN):c.35T>C (p.Ile12Thr)
|
rs869025490
|
0.00001
|
|
NM_032578.4(MYPN):c.3611A>C (p.Tyr1204Ser)
|
rs1267268782
|
0.00001
|
|
NM_032578.4(MYPN):c.3622G>A (p.Asp1208Asn)
|
rs777918680
|
0.00001
|
|
NM_032578.4(MYPN):c.3623A>G (p.Asp1208Gly)
|
rs2043722325
|
0.00001
|
|
NM_032578.4(MYPN):c.3654G>C (p.Arg1218Ser)
|
rs781011786
|
0.00001
|
|
NM_032578.4(MYPN):c.3734C>T (p.Thr1245Met)
|
rs139138260
|
0.00001
|
|
NM_032578.4(MYPN):c.374C>T (p.Pro125Leu)
|
rs367784440
|
0.00001
|
|
NM_032578.4(MYPN):c.3757G>A (p.Gly1253Ser)
|
rs1208726312
|
0.00001
|
|
NM_032578.4(MYPN):c.3767C>T (p.Ser1256Leu)
|
rs542627169
|
0.00001
|
|
NM_032578.4(MYPN):c.3805C>T (p.His1269Tyr)
|
rs746600159
|
0.00001
|
|
NM_032578.4(MYPN):c.3847C>T (p.Arg1283Cys)
|
rs753787957
|
0.00001
|
|
NM_032578.4(MYPN):c.3853G>A (p.Gly1285Arg)
|
rs750277122
|
0.00001
|
|
NM_032578.4(MYPN):c.3902T>C (p.Met1301Thr)
|
rs778106822
|
0.00001
|
|
NM_032578.4(MYPN):c.3922T>C (p.Ser1308Pro)
|
rs1279126604
|
0.00001
|
|
NM_032578.4(MYPN):c.3923C>T (p.Ser1308Leu)
|
rs781048271
|
0.00001
|
|
NM_032578.4(MYPN):c.3959T>C (p.Leu1320Pro)
|
rs200646285
|
0.00001
|
|
NM_032578.4(MYPN):c.411G>C (p.Arg137Ser)
|
rs751085897
|
0.00001
|
|
NM_032578.4(MYPN):c.437C>T (p.Ser146Phe)
|
rs748438784
|
0.00001
|
|
NM_032578.4(MYPN):c.47T>C (p.Leu16Pro)
|
rs1241418398
|
0.00001
|
|
NM_032578.4(MYPN):c.56G>A (p.Ser19Asn)
|
rs1379540680
|
0.00001
|
|
NM_032578.4(MYPN):c.611A>G (p.Glu204Gly)
|
rs373095593
|
0.00001
|
|
NM_032578.4(MYPN):c.625T>C (p.Ser209Pro)
|
rs794729071
|
0.00001
|
|
NM_032578.4(MYPN):c.683T>C (p.Leu228Pro)
|
rs377392207
|
0.00001
|
|
NM_032578.4(MYPN):c.712G>A (p.Ala238Thr)
|
rs755212697
|
0.00001
|
|
NM_032578.4(MYPN):c.725C>T (p.Ala242Val)
|
rs1232532993
|
0.00001
|
|
NM_032578.4(MYPN):c.736G>A (p.Ala246Thr)
|
rs756677221
|
0.00001
|
|
NM_032578.4(MYPN):c.751A>G (p.Thr251Ala)
|
rs773860716
|
0.00001
|
|
NM_032578.4(MYPN):c.766C>T (p.Pro256Ser)
|
rs1352606923
|
0.00001
|
|
NM_032578.4(MYPN):c.79C>G (p.Arg27Gly)
|
rs754754810
|
0.00001
|
|
NM_032578.4(MYPN):c.809G>T (p.Arg270Leu)
|
rs1187626834
|
0.00001
|
|
NM_032578.4(MYPN):c.80G>C (p.Arg27Pro)
|
rs529359915
|
0.00001
|
|
NM_032578.4(MYPN):c.827G>A (p.Arg276Gln)
|
rs771703762
|
0.00001
|
|
NM_032578.4(MYPN):c.859C>A (p.Gln287Lys)
|
rs2042258039
|
0.00001
|
|
NM_032578.4(MYPN):c.865G>T (p.Asp289Tyr)
|
rs201460662
|
0.00001
|
|
NM_032578.4(MYPN):c.895C>A (p.Gln299Lys)
|
rs1299051222
|
0.00001
|
|
NM_032578.4(MYPN):c.903-3C>A
|
rs1172497360
|
0.00001
|
|
NM_033118.4(MYLK2):c.1019G>A (p.Arg340His)
|
rs770590365
|
0.00001
|
|
NM_033118.4(MYLK2):c.1087G>A (p.Glu363Lys)
|
rs367922073
|
0.00001
|
|
NM_033118.4(MYLK2):c.1093G>A (p.Gly365Arg)
|
rs755753841
|
0.00001
|
|
NM_033118.4(MYLK2):c.1112T>C (p.Ile371Thr)
|
rs727505336
|
0.00001
|
|
NM_033118.4(MYLK2):c.1168A>G (p.Ile390Val)
|
rs762726572
|
0.00001
|
|
NM_033118.4(MYLK2):c.116C>T (p.Pro39Leu)
|
rs786205283
|
0.00001
|
|
NM_033118.4(MYLK2):c.118G>C (p.Asp40His)
|
rs1442623234
|
0.00001
|
|
NM_033118.4(MYLK2):c.1255G>A (p.Gly419Arg)
|
rs781613441
|
0.00001
|
|
NM_033118.4(MYLK2):c.125A>G (p.Lys42Arg)
|
rs150342605
|
0.00001
|
|
NM_033118.4(MYLK2):c.1291C>T (p.Arg431Trp)
|
rs1370884458
|
0.00001
|
|
NM_033118.4(MYLK2):c.1381G>A (p.Asp461Asn)
|
rs1222457605
|
0.00001
|
|
NM_033118.4(MYLK2):c.1525G>A (p.Val509Ile)
|
rs183224373
|
0.00001
|
|
NM_033118.4(MYLK2):c.1534G>C (p.Glu512Gln)
|
rs767857271
|
0.00001
|
|
NM_033118.4(MYLK2):c.1582C>T (p.Arg528Trp)
|
rs752617053
|
0.00001
|
|
NM_033118.4(MYLK2):c.1631C>T (p.Ala544Val)
|
rs868117451
|
0.00001
|
|
NM_033118.4(MYLK2):c.1645C>T (p.Arg549Cys)
|
rs540151040
|
0.00001
|
|
NM_033118.4(MYLK2):c.1671G>T (p.Gln557His)
|
rs1405172030
|
0.00001
|
|
NM_033118.4(MYLK2):c.1742G>A (p.Arg581His)
|
rs1240286486
|
0.00001
|
|
NM_033118.4(MYLK2):c.1762T>C (p.Ser588Pro)
|
rs1390693355
|
0.00001
|
|
NM_033118.4(MYLK2):c.1763C>T (p.Ser588Leu)
|
rs973371846
|
0.00001
|
|
NM_033118.4(MYLK2):c.1766G>A (p.Gly589Glu)
|
rs201168172
|
0.00001
|
|
NM_033118.4(MYLK2):c.1768G>T (p.Ala590Ser)
|
rs150004017
|
0.00001
|
|
NM_033118.4(MYLK2):c.259G>A (p.Ala87Thr)
|
rs753089175
|
0.00001
|
|
NM_033118.4(MYLK2):c.268A>G (p.Ser90Gly)
|
rs781322060
|
0.00001
|
|
NM_033118.4(MYLK2):c.287C>T (p.Ala96Val)
|
rs772745416
|
0.00001
|
|
NM_033118.4(MYLK2):c.322G>A (p.Val108Ile)
|
rs367707824
|
0.00001
|
|
NM_033118.4(MYLK2):c.32G>A (p.Gly11Glu)
|
rs1316397890
|
0.00001
|
|
NM_033118.4(MYLK2):c.337G>T (p.Ala113Ser)
|
rs201107614
|
0.00001
|
|
NM_033118.4(MYLK2):c.353C>T (p.Ser118Leu)
|
rs727503304
|
0.00001
|
|
NM_033118.4(MYLK2):c.383T>A (p.Val128Glu)
|
rs764494869
|
0.00001
|
|
NM_033118.4(MYLK2):c.398C>T (p.Ala133Val)
|
rs761688232
|
0.00001
|
|
NM_033118.4(MYLK2):c.409G>A (p.Ala137Thr)
|
rs1278523169
|
0.00001
|
|
NM_033118.4(MYLK2):c.490G>T (p.Ala164Ser)
|
rs1402022243
|
0.00001
|
|
NM_033118.4(MYLK2):c.551G>A (p.Ser184Asn)
|
rs112657833
|
0.00001
|
|
NM_033118.4(MYLK2):c.577G>A (p.Ala193Thr)
|
rs1228303561
|
0.00001
|
|
NM_033118.4(MYLK2):c.602C>A (p.Ala201Glu)
|
rs769968444
|
0.00001
|
|
NM_033118.4(MYLK2):c.606G>C (p.Glu202Asp)
|
rs775405264
|
0.00001
|
|
NM_033118.4(MYLK2):c.662A>G (p.Gln221Arg)
|
rs750419427
|
0.00001
|
|
NM_033118.4(MYLK2):c.68G>A (p.Gly23Asp)
|
rs776262276
|
0.00001
|
|
NM_033118.4(MYLK2):c.704C>T (p.Ser235Leu)
|
rs770237487
|
0.00001
|
|
NM_033118.4(MYLK2):c.715G>A (p.Glu239Lys)
|
rs768716432
|
0.00001
|
|
NM_033118.4(MYLK2):c.813G>A (p.Met271Ile)
|
rs376297935
|
0.00001
|
|
NM_033118.4(MYLK2):c.874G>A (p.Gly292Arg)
|
rs1026490690
|
0.00001
|
|
NM_144573.4(NEXN):c.1066G>C (p.Asp356His)
|
rs1257882038
|
0.00001
|
|
NM_144573.4(NEXN):c.1072C>T (p.Pro358Ser)
|
rs998636692
|
0.00001
|
|
NM_144573.4(NEXN):c.112A>C (p.Met38Leu)
|
rs770360181
|
0.00001
|
|
NM_144573.4(NEXN):c.1222T>C (p.Phe408Leu)
|
rs794729083
|
0.00001
|
|
NM_144573.4(NEXN):c.1226A>C (p.Glu409Ala)
|
rs781371108
|
0.00001
|
|
NM_144573.4(NEXN):c.1244T>C (p.Met415Thr)
|
rs1172366391
|
0.00001
|
|
NM_144573.4(NEXN):c.1271C>T (p.Thr424Ile)
|
rs200442502
|
0.00001
|
|
NM_144573.4(NEXN):c.1366G>A (p.Gly456Arg)
|
rs397517844
|
0.00001
|
|
NM_144573.4(NEXN):c.1415C>G (p.Ala472Gly)
|
rs539665448
|
0.00001
|
|
NM_144573.4(NEXN):c.1430T>C (p.Ile477Thr)
|
rs727504658
|
0.00001
|
|
NM_144573.4(NEXN):c.1432G>A (p.Asp478Asn)
|
rs1309129145
|
0.00001
|
|
NM_144573.4(NEXN):c.1498G>T (p.Ala500Ser)
|
rs1193200803
|
0.00001
|
|
NM_144573.4(NEXN):c.1508G>A (p.Ser503Asn)
|
rs1368415456
|
0.00001
|
|
NM_144573.4(NEXN):c.1528A>G (p.Lys510Glu)
|
rs727504758
|
0.00001
|
|
NM_144573.4(NEXN):c.1609_1610insA (p.Leu537fs)
|
rs779350415
|
0.00001
|
|
NM_144573.4(NEXN):c.1640T>C (p.Ile547Thr)
|
rs753636624
|
0.00001
|
|
NM_144573.4(NEXN):c.1659+5C>T
|
rs575910839
|
0.00001
|
|
NM_144573.4(NEXN):c.1664_1666del (p.Arg555_Glu556delinsLys)
|
rs1221963637
|
0.00001
|
|
NM_144573.4(NEXN):c.1724A>G (p.Glu575Gly)
|
rs1169540111
|
0.00001
|
|
NM_144573.4(NEXN):c.1739G>A (p.Gly580Glu)
|
rs560530481
|
0.00001
|
|
NM_144573.4(NEXN):c.1747T>C (p.Trp583Arg)
|
rs1223656449
|
0.00001
|
|
NM_144573.4(NEXN):c.1771A>G (p.Thr591Ala)
|
rs369019618
|
0.00001
|
|
NM_144573.4(NEXN):c.1805C>T (p.Thr602Met)
|
rs756709134
|
0.00001
|
|
NM_144573.4(NEXN):c.1859A>G (p.Glu620Gly)
|
rs748404504
|
0.00001
|
|
NM_144573.4(NEXN):c.1889A>G (p.Tyr630Cys)
|
rs769713624
|
0.00001
|
|
NM_144573.4(NEXN):c.1981G>A (p.Gly661Arg)
|
rs876657929
|
0.00001
|
|
NM_144573.4(NEXN):c.2014G>A (p.Glu672Lys)
|
rs771695320
|
0.00001
|
|
NM_144573.4(NEXN):c.2019T>A (p.Ser673Arg)
|
rs539689450
|
0.00001
|
|
NM_144573.4(NEXN):c.219+5T>G
|
rs1414299806
|
0.00001
|
|
NM_144573.4(NEXN):c.299-3T>C
|
rs397517856
|
0.00001
|
|
NM_144573.4(NEXN):c.328G>C (p.Glu110Gln)
|
rs754671609
|
0.00001
|
|
NM_144573.4(NEXN):c.364G>C (p.Glu122Gln)
|
rs748518328
|
0.00001
|
|
NM_144573.4(NEXN):c.380G>A (p.Arg127His)
|
rs776891268
|
0.00001
|
|
NM_144573.4(NEXN):c.421C>T (p.Arg141Cys)
|
rs536537549
|
0.00001
|
|
NM_144573.4(NEXN):c.542C>T (p.Thr181Ile)
|
rs764640427
|
0.00001
|
|
NM_144573.4(NEXN):c.620A>G (p.Asp207Gly)
|
rs570946423
|
0.00001
|
|
NM_144573.4(NEXN):c.626G>T (p.Arg209Ile)
|
rs1433269866
|
0.00001
|
|
NM_144573.4(NEXN):c.64T>A (p.Tyr22Asn)
|
rs1553236590
|
0.00001
|
|
NM_144573.4(NEXN):c.680T>C (p.Leu227Ser)
|
rs756273801
|
0.00001
|
|
NM_144573.4(NEXN):c.767G>A (p.Arg256Gln)
|
rs748921688
|
0.00001
|
|
NM_144573.4(NEXN):c.772A>G (p.Arg258Gly)
|
rs1308264799
|
0.00001
|
|
NM_144573.4(NEXN):c.797C>G (p.Ala266Gly)
|
rs1442572797
|
0.00001
|
|
NM_144573.4(NEXN):c.906T>A (p.Phe302Leu)
|
rs767740199
|
0.00001
|
|
NM_144573.4(NEXN):c.917G>A (p.Arg306His)
|
rs758055856
|
0.00001
|
|
NM_145046.5(CALR3):c.1094C>T (p.Ser365Leu)
|
rs768015132
|
0.00001
|
|
NM_145046.5(CALR3):c.113T>G (p.Leu38Trp)
|
rs780211279
|
0.00001
|
|
NM_145046.5(CALR3):c.1147G>A (p.Glu383Lys)
|
rs368434498
|
0.00001
|
|
NM_145046.5(CALR3):c.127G>A (p.Asp43Asn)
|
rs745435624
|
0.00001
|
|
NM_145046.5(CALR3):c.139G>C (p.Gly47Arg)
|
rs1279334739
|
0.00001
|
|
NM_145046.5(CALR3):c.16G>A (p.Val6Ile)
|
rs747264355
|
0.00001
|
|
NM_145046.5(CALR3):c.193+1G>A
|
rs374865616
|
0.00001
|
|
NM_145046.5(CALR3):c.194-2A>G
|
rs763294530
|
0.00001
|
|
NM_145046.5(CALR3):c.224A>T (p.Tyr75Phe)
|
rs780394746
|
0.00001
|
|
NM_145046.5(CALR3):c.277A>G (p.Ile93Val)
|
rs2093396133
|
0.00001
|
|
NM_145046.5(CALR3):c.28G>A (p.Ala10Thr)
|
rs3810201
|
0.00001
|
|
NM_145046.5(CALR3):c.298G>A (p.Glu100Lys)
|
rs766276146
|
0.00001
|
|
NM_145046.5(CALR3):c.309G>A (p.Met103Ile)
|
rs772666036
|
0.00001
|
|
NM_145046.5(CALR3):c.31A>G (p.Ile11Val)
|
rs755784741
|
0.00001
|
|
NM_145046.5(CALR3):c.377C>T (p.Ser126Leu)
|
rs752960232
|
0.00001
|
|
NM_145046.5(CALR3):c.488G>A (p.Cys163Tyr)
|
rs778791995
|
0.00001
|
|
NM_145046.5(CALR3):c.521T>C (p.Leu174Pro)
|
rs1248561462
|
0.00001
|
|
NM_145046.5(CALR3):c.545A>G (p.Tyr182Cys)
|
rs1035181108
|
0.00001
|
|
NM_145046.5(CALR3):c.600G>C (p.Trp200Cys)
|
rs2093384836
|
0.00001
|
|
NM_145046.5(CALR3):c.67T>A (p.Phe23Ile)
|
rs368506422
|
0.00001
|
|
NM_145046.5(CALR3):c.691C>G (p.His231Asp)
|
rs1555775874
|
0.00001
|
|
NM_145046.5(CALR3):c.733G>A (p.Gly245Ser)
|
rs753917463
|
0.00001
|
|
NM_145046.5(CALR3):c.740T>A (p.Leu247Gln)
|
rs961599926
|
0.00001
|
|
NM_145046.5(CALR3):c.786+3G>T
|
rs1413720533
|
0.00001
|
|
NM_145046.5(CALR3):c.787G>C (p.Asp263His)
|
rs200056222
|
0.00001
|
|
NM_145046.5(CALR3):c.91+6G>A
|
rs748014562
|
0.00001
|
|
NM_145046.5(CALR3):c.961G>A (p.Asp321Asn)
|
rs143334090
|
0.00001
|
|
NM_145046.5(CALR3):c.962A>G (p.Asp321Gly)
|
rs985096797
|
0.00001
|
|
NM_145046.5(CALR3):c.97T>C (p.Trp33Arg)
|
rs1396322901
|
0.00001
|
|
NM_152594.3(SPRED1):c.1001G>A (p.Arg334His)
|
rs146702985
|
0.00001
|
|
NM_152594.3(SPRED1):c.1031A>G (p.His344Arg)
|
rs376679136
|
0.00001
|
|
NM_152594.3(SPRED1):c.1033G>C (p.Glu345Gln)
|
rs1306435872
|
0.00001
|
|
NM_152594.3(SPRED1):c.1085G>A (p.Cys362Tyr)
|
rs1255579349
|
0.00001
|
|
NM_152594.3(SPRED1):c.1217C>T (p.Ala406Val)
|
rs748390368
|
0.00001
|
|
NM_152594.3(SPRED1):c.1238T>C (p.Ile413Thr)
|
rs1156410015
|
0.00001
|
|
NM_152594.3(SPRED1):c.1261G>A (p.Val421Ile)
|
rs752958999
|
0.00001
|
|
NM_152594.3(SPRED1):c.1298G>A (p.Cys433Tyr)
|
rs779454951
|
0.00001
|
|
NM_152594.3(SPRED1):c.1301G>T (p.Gly434Val)
|
rs746414913
|
0.00001
|
|
NM_152594.3(SPRED1):c.1307G>A (p.Cys436Tyr)
|
rs772421738
|
0.00001
|
|
NM_152594.3(SPRED1):c.1313G>T (p.Gly438Val)
|
rs573603750
|
0.00001
|
|
NM_152594.3(SPRED1):c.1324G>A (p.Ala442Thr)
|
rs761401264
|
0.00001
|
|
NM_152594.3(SPRED1):c.149A>T (p.Gln50Leu)
|
rs1475256958
|
0.00001
|
|
NM_152594.3(SPRED1):c.157A>G (p.Asn53Asp)
|
rs1261567261
|
0.00001
|
|
NM_152594.3(SPRED1):c.170A>G (p.Asp57Gly)
|
rs959758606
|
0.00001
|
|
NM_152594.3(SPRED1):c.211G>A (p.Val71Ile)
|
rs369150309
|
0.00001
|
|
NM_152594.3(SPRED1):c.281T>C (p.Ile94Thr)
|
rs761473300
|
0.00001
|
|
NM_152594.3(SPRED1):c.305C>T (p.Thr102Met)
|
rs754706111
|
0.00001
|
|
NM_152594.3(SPRED1):c.353G>A (p.Arg118Lys)
|
rs373381933
|
0.00001
|
|
NM_152594.3(SPRED1):c.406G>A (p.Gly136Arg)
|
rs1555391158
|
0.00001
|
|
NM_152594.3(SPRED1):c.477A>T (p.Gln159His)
|
rs781477854
|
0.00001
|
|
NM_152594.3(SPRED1):c.505A>G (p.Arg169Gly)
|
rs1895994329
|
0.00001
|
|
NM_152594.3(SPRED1):c.50T>C (p.Val17Ala)
|
rs1421913267
|
0.00001
|
|
NM_152594.3(SPRED1):c.511T>C (p.Ser171Pro)
|
rs376527959
|
0.00001
|
|
NM_152594.3(SPRED1):c.564G>A (p.Met188Ile)
|
rs202092705
|
0.00001
|
|
NM_152594.3(SPRED1):c.578A>G (p.Asn193Ser)
|
rs766431294
|
0.00001
|
|
NM_152594.3(SPRED1):c.583A>T (p.Ile195Leu)
|
rs1385820657
|
0.00001
|
|
NM_152594.3(SPRED1):c.58G>C (p.Val20Leu)
|
rs780614363
|
0.00001
|
|
NM_152594.3(SPRED1):c.641G>A (p.Arg214Gln)
|
rs371274407
|
0.00001
|
|
NM_152594.3(SPRED1):c.683G>A (p.Arg228Lys)
|
rs951963194
|
0.00001
|
|
NM_152594.3(SPRED1):c.6C>A (p.Ser2Arg)
|
rs775693385
|
0.00001
|
|
NM_152594.3(SPRED1):c.700A>G (p.Ile234Val)
|
rs1199792537
|
0.00001
|
|
NM_152594.3(SPRED1):c.707A>G (p.His236Arg)
|
rs886051104
|
0.00001
|
|
NM_152594.3(SPRED1):c.807T>G (p.Asn269Lys)
|
rs886041428
|
0.00001
|
|
NM_152594.3(SPRED1):c.892G>C (p.Asp298His)
|
rs761001792
|
0.00001
|
|
NM_152594.3(SPRED1):c.920A>G (p.Asp307Gly)
|
rs764868020
|
0.00001
|
|
NM_152594.3(SPRED1):c.922T>G (p.Ser308Ala)
|
rs765841849
|
0.00001
|
|
NM_152594.3(SPRED1):c.982G>A (p.Glu328Lys)
|
rs1352455265
|
0.00001
|
|
NM_152594.3(SPRED1):c.995G>A (p.Arg332His)
|
rs779966392
|
0.00001
|
|
NM_181703.4(GJA5):c.1006G>A (p.Gly336Ser)
|
rs782650035
|
0.00001
|
|
NM_181703.4(GJA5):c.1024C>T (p.Arg342Ter)
|
rs782278675
|
0.00001
|
|
NM_181703.4(GJA5):c.1028G>A (p.Arg343His)
|
rs782627991
|
0.00001
|
|
NM_181703.4(GJA5):c.170T>G (p.Ile57Ser)
|
rs1553227077
|
0.00001
|
|
NM_181703.4(GJA5):c.316C>T (p.Arg106Cys)
|
rs1553227043
|
0.00001
|
|
NM_181703.4(GJA5):c.353G>A (p.Arg118Gln)
|
rs782580208
|
0.00001
|
|
NM_181703.4(GJA5):c.359C>G (p.Ser120Cys)
|
rs1553227023
|
0.00001
|
|
NM_181703.4(GJA5):c.369_370del (p.Tyr123_Glu124delinsTer)
|
rs782626477
|
0.00001
|
|
NM_181703.4(GJA5):c.430G>A (p.Ala144Thr)
|
rs782438073
|
0.00001
|
|
NM_181703.4(GJA5):c.478C>T (p.Arg160Cys)
|
rs368383054
|
0.00001
|
|
NM_181703.4(GJA5):c.542C>T (p.Thr181Ile)
|
rs1553226954
|
0.00001
|
|
NM_181703.4(GJA5):c.593T>C (p.Val198Ala)
|
rs782032408
|
0.00001
|
|
NM_181703.4(GJA5):c.725G>T (p.Arg242Leu)
|
rs906244249
|
0.00001
|
|
NM_181703.4(GJA5):c.771dup (p.Val258fs)
|
rs782700948
|
0.00001
|
|
NM_181703.4(GJA5):c.776A>C (p.Gln259Pro)
|
rs782792159
|
0.00001
|
|
NM_181703.4(GJA5):c.790C>A (p.Pro264Thr)
|
rs200371777
|
0.00001
|
|
NM_181703.4(GJA5):c.893C>G (p.Thr298Ser)
|
rs1454021397
|
0.00001
|
|
NM_181703.4(GJA5):c.953G>T (p.Gly318Val)
|
rs782221270
|
0.00001
|
|
NM_181703.4(GJA5):c.977G>C (p.Gly326Ala)
|
rs782703462
|
0.00001
|
|
NM_182914.3(SYNE2):c.10073T>G (p.Leu3358Arg)
|
rs752681009
|
0.00001
|
|
NM_182914.3(SYNE2):c.10201G>C (p.Glu3401Gln)
|
rs935239194
|
0.00001
|
|
NM_182914.3(SYNE2):c.10237A>T (p.Thr3413Ser)
|
rs780825872
|
0.00001
|
|
NM_182914.3(SYNE2):c.10303G>T (p.Asp3435Tyr)
|
rs931738357
|
0.00001
|
|
NM_182914.3(SYNE2):c.10308C>T (p.Gly3436=)
|
rs1408955404
|
0.00001
|
|
NM_182914.3(SYNE2):c.10386G>A (p.Met3462Ile)
|
rs780632525
|
0.00001
|
|
NM_182914.3(SYNE2):c.10536C>A (p.Asp3512Glu)
|
rs557133901
|
0.00001
|
|
NM_182914.3(SYNE2):c.1063G>T (p.Asp355Tyr)
|
rs765413747
|
0.00001
|
|
NM_182914.3(SYNE2):c.10910A>G (p.Asn3637Ser)
|
rs753086381
|
0.00001
|
|
NM_182914.3(SYNE2):c.10990T>C (p.Cys3664Arg)
|
rs372299859
|
0.00001
|
|
NM_182914.3(SYNE2):c.11023-24_11023-9del
|
rs756704685
|
0.00001
|
|
NM_182914.3(SYNE2):c.11027G>A (p.Ser3676Asn)
|
rs200505107
|
0.00001
|
|
NM_182914.3(SYNE2):c.11071A>G (p.Lys3691Glu)
|
rs147104686
|
0.00001
|
|
NM_182914.3(SYNE2):c.11084T>C (p.Ile3695Thr)
|
rs774045803
|
0.00001
|
|
NM_182914.3(SYNE2):c.11174A>G (p.Asp3725Gly)
|
rs1595379549
|
0.00001
|
|
NM_182914.3(SYNE2):c.11389A>G (p.Thr3797Ala)
|
rs1323998717
|
0.00001
|
|
NM_182914.3(SYNE2):c.11411C>G (p.Thr3804Ser)
|
rs367893963
|
0.00001
|
|
NM_182914.3(SYNE2):c.11488G>T (p.Ala3830Ser)
|
rs2097574430
|
0.00001
|
|
NM_182914.3(SYNE2):c.11508G>C (p.Gln3836His)
|
rs1315959283
|
0.00001
|
|
NM_182914.3(SYNE2):c.11539G>A (p.Asp3847Asn)
|
rs376684112
|
0.00001
|
|
NM_182914.3(SYNE2):c.11656C>G (p.Gln3886Glu)
|
rs1235280357
|
0.00001
|
|
NM_182914.3(SYNE2):c.11660G>A (p.Arg3887Gln)
|
rs181798411
|
0.00001
|
|
NM_182914.3(SYNE2):c.11702C>T (p.Ser3901Leu)
|
rs1311942649
|
0.00001
|
|
NM_182914.3(SYNE2):c.11725A>C (p.Ile3909Leu)
|
rs1484721302
|
0.00001
|
|
NM_182914.3(SYNE2):c.11879G>A (p.Gly3960Glu)
|
rs775836079
|
0.00001
|
|
NM_182914.3(SYNE2):c.11905C>T (p.Arg3969Trp)
|
rs141498263
|
0.00001
|
|
NM_182914.3(SYNE2):c.11956G>A (p.Glu3986Lys)
|
rs779441612
|
0.00001
|
|
NM_182914.3(SYNE2):c.12118G>A (p.Glu4040Lys)
|
rs1245656240
|
0.00001
|
|
NM_182914.3(SYNE2):c.12253G>T (p.Ala4085Ser)
|
rs772564360
|
0.00001
|
|
NM_182914.3(SYNE2):c.12368C>G (p.Ser4123Cys)
|
rs759668362
|
0.00001
|
|
NM_182914.3(SYNE2):c.12381+5G>A
|
rs771680833
|
0.00001
|
|
NM_182914.3(SYNE2):c.12461G>A (p.Arg4154Lys)
|
rs1455878545
|
0.00001
|
|
NM_182914.3(SYNE2):c.12510A>G (p.Ile4170Met)
|
rs200113549
|
0.00001
|
|
NM_182914.3(SYNE2):c.12512G>A (p.Ser4171Asn)
|
rs758662885
|
0.00001
|
|
NM_182914.3(SYNE2):c.12539T>G (p.Ile4180Ser)
|
rs780306283
|
0.00001
|
|
NM_182914.3(SYNE2):c.12609+1G>A
|
rs745516407
|
0.00001
|
|
NM_182914.3(SYNE2):c.12767A>G (p.Asn4256Ser)
|
rs552966507
|
0.00001
|
|
NM_182914.3(SYNE2):c.12769G>A (p.Val4257Met)
|
rs765323829
|
0.00001
|
|
NM_182914.3(SYNE2):c.12796G>A (p.Ala4266Thr)
|
rs1316995826
|
0.00001
|
|
NM_182914.3(SYNE2):c.128C>T (p.Ser43Leu)
|
rs754783984
|
0.00001
|
|
NM_182914.3(SYNE2):c.1298T>C (p.Leu433Pro)
|
rs2096556875
|
0.00001
|
|
NM_182914.3(SYNE2):c.13030A>G (p.Thr4344Ala)
|
rs776545846
|
0.00001
|
|
NM_182914.3(SYNE2):c.13160T>C (p.Val4387Ala)
|
rs2097902343
|
0.00001
|
|
NM_182914.3(SYNE2):c.13180G>C (p.Glu4394Gln)
|
rs757620618
|
0.00001
|
|
NM_182914.3(SYNE2):c.1318C>T (p.His440Tyr)
|
rs761844853
|
0.00001
|
|
NM_182914.3(SYNE2):c.13217C>T (p.Ala4406Val)
|
rs1309450077
|
0.00001
|
|
NM_182914.3(SYNE2):c.13422+6T>C
|
rs1451114476
|
0.00001
|
|
NM_182914.3(SYNE2):c.13459A>G (p.Met4487Val)
|
rs370050400
|
0.00001
|
|
NM_182914.3(SYNE2):c.13463A>G (p.Tyr4488Cys)
|
rs775876760
|
0.00001
|
|
NM_182914.3(SYNE2):c.13466A>G (p.Asn4489Ser)
|
rs747349342
|
0.00001
|
|
NM_182914.3(SYNE2):c.13473A>G (p.Arg4491=)
|
rs886042596
|
0.00001
|
|
NM_182914.3(SYNE2):c.13534G>A (p.Ala4512Thr)
|
rs758884582
|
0.00001
|
|
NM_182914.3(SYNE2):c.13613T>A (p.Leu4538Gln)
|
rs370464923
|
0.00001
|
|
NM_182914.3(SYNE2):c.13695_13707+2dup
|
rs758985012
|
0.00001
|
|
NM_182914.3(SYNE2):c.13707+3A>G
|
rs201254784
|
0.00001
|
|
NM_182914.3(SYNE2):c.13826A>C (p.Asn4609Thr)
|
rs751525888
|
0.00001
|
|
NM_182914.3(SYNE2):c.1384A>G (p.Lys462Glu)
|
rs753039223
|
0.00001
|
|
NM_182914.3(SYNE2):c.13880C>A (p.Ser4627Tyr)
|
rs2097950027
|
0.00001
|
|
NM_182914.3(SYNE2):c.13964C>T (p.Ser4655Phe)
|
rs758010581
|
0.00001
|
|
NM_182914.3(SYNE2):c.14063G>A (p.Arg4688Gln)
|
rs188252400
|
0.00001
|
|
NM_182914.3(SYNE2):c.1417A>G (p.Ile473Val)
|
rs755692006
|
0.00001
|
|
NM_182914.3(SYNE2):c.14196C>G (p.Ser4732Arg)
|
rs749317592
|
0.00001
|
|
NM_182914.3(SYNE2):c.14251G>C (p.Val4751Leu)
|
rs768078645
|
0.00001
|
|
NM_182914.3(SYNE2):c.14327T>C (p.Ile4776Thr)
|
rs563179946
|
0.00001
|
|
NM_182914.3(SYNE2):c.1433T>A (p.Phe478Tyr)
|
rs750998654
|
0.00001
|
|
NM_182914.3(SYNE2):c.14393C>T (p.Ala4798Val)
|
rs770006520
|
0.00001
|
|
NM_182914.3(SYNE2):c.14441A>C (p.Glu4814Ala)
|
rs944539742
|
0.00001
|
|
NM_182914.3(SYNE2):c.14460A>C (p.Lys4820Asn)
|
rs574306382
|
0.00001
|
|
NM_182914.3(SYNE2):c.1463A>G (p.Lys488Arg)
|
rs1437677917
|
0.00001
|
|
NM_182914.3(SYNE2):c.14755G>A (p.Ala4919Thr)
|
rs781072783
|
0.00001
|
|
NM_182914.3(SYNE2):c.14801A>G (p.His4934Arg)
|
rs758936935
|
0.00001
|
|
NM_182914.3(SYNE2):c.14908T>C (p.Trp4970Arg)
|
rs1442905244
|
0.00001
|
|
NM_182914.3(SYNE2):c.15057A>G (p.Lys5019=)
|
rs778518604
|
0.00001
|
|
NM_182914.3(SYNE2):c.15159+4A>G
|
rs749960169
|
0.00001
|
|
NM_182914.3(SYNE2):c.15187A>C (p.Lys5063Gln)
|
rs746864967
|
0.00001
|
|
NM_182914.3(SYNE2):c.15206T>C (p.Ile5069Thr)
|
rs200347797
|
0.00001
|
|
NM_182914.3(SYNE2):c.15385G>A (p.Asp5129Asn)
|
rs931728993
|
0.00001
|
|
NM_182914.3(SYNE2):c.15395G>A (p.Ser5132Asn)
|
rs765802633
|
0.00001
|
|
NM_182914.3(SYNE2):c.15404A>G (p.Tyr5135Cys)
|
rs556819169
|
0.00001
|
|
NM_182914.3(SYNE2):c.15458G>A (p.Arg5153His)
|
rs773752983
|
0.00001
|
|
NM_182914.3(SYNE2):c.15484-3T>C
|
rs370197641
|
0.00001
|
|
NM_182914.3(SYNE2):c.15524G>C (p.Ser5175Thr)
|
rs1277439274
|
0.00001
|
|
NM_182914.3(SYNE2):c.15659C>G (p.Ala5220Gly)
|
rs765911639
|
0.00001
|
|
NM_182914.3(SYNE2):c.15700C>A (p.Leu5234Met)
|
rs769634722
|
0.00001
|
|
NM_182914.3(SYNE2):c.15776G>A (p.Ser5259Asn)
|
rs1168529666
|
0.00001
|
|
NM_182914.3(SYNE2):c.15788C>T (p.Thr5263Ile)
|
rs566704933
|
0.00001
|
|
NM_182914.3(SYNE2):c.15859G>A (p.Asp5287Asn)
|
rs188953744
|
0.00001
|
|
NM_182914.3(SYNE2):c.15869A>G (p.Asn5290Ser)
|
rs374774137
|
0.00001
|
|
NM_182914.3(SYNE2):c.15872T>C (p.Met5291Thr)
|
rs776578358
|
0.00001
|
|
NM_182914.3(SYNE2):c.16018G>T (p.Val5340Phe)
|
rs200214648
|
0.00001
|
|
NM_182914.3(SYNE2):c.16087C>A (p.His5363Asn)
|
rs1381652852
|
0.00001
|
|
NM_182914.3(SYNE2):c.1618C>A (p.Gln540Lys)
|
rs768004294
|
0.00001
|
|
NM_182914.3(SYNE2):c.16378G>A (p.Ala5460Thr)
|
rs775169295
|
0.00001
|
|
NM_182914.3(SYNE2):c.16494G>C (p.Gln5498His)
|
rs1158224543
|
0.00001
|
|
NM_182914.3(SYNE2):c.16513C>T (p.Arg5505Trp)
|
rs767970692
|
0.00001
|
|
NM_182914.3(SYNE2):c.16550A>G (p.Glu5517Gly)
|
rs765353232
|
0.00001
|
|
NM_182914.3(SYNE2):c.16602C>G (p.Phe5534Leu)
|
rs748802577
|
0.00001
|
|
NM_182914.3(SYNE2):c.16631A>C (p.Gln5544Pro)
|
rs753694030
|
0.00001
|
|
NM_182914.3(SYNE2):c.16687G>A (p.Val5563Ile)
|
rs756909587
|
0.00001
|
|
NM_182914.3(SYNE2):c.16717C>T (p.Arg5573Trp)
|
rs138323662
|
0.00001
|
|
NM_182914.3(SYNE2):c.16730G>A (p.Arg5577Gln)
|
rs143231145
|
0.00001
|
|
NM_182914.3(SYNE2):c.16771G>A (p.Gly5591Arg)
|
rs979226241
|
0.00001
|
|
NM_182914.3(SYNE2):c.16775T>C (p.Ile5592Thr)
|
rs779437989
|
0.00001
|
|
NM_182914.3(SYNE2):c.16844C>T (p.Ala5615Val)
|
rs372515789
|
0.00001
|
|
NM_182914.3(SYNE2):c.17008T>A (p.Phe5670Ile)
|
rs750982331
|
0.00001
|
|
NM_182914.3(SYNE2):c.17183G>T (p.Gly5728Val)
|
rs776657050
|
0.00001
|
|
NM_182914.3(SYNE2):c.17225A>G (p.His5742Arg)
|
rs752227568
|
0.00001
|
|
NM_182914.3(SYNE2):c.17264G>A (p.Arg5755Gln)
|
rs368893421
|
0.00001
|
|
NM_182914.3(SYNE2):c.17287G>A (p.Glu5763Lys)
|
rs1315464944
|
0.00001
|
|
NM_182914.3(SYNE2):c.17334G>T (p.Glu5778Asp)
|
rs1349823978
|
0.00001
|
|
NM_182914.3(SYNE2):c.17557-3C>T
|
rs950834812
|
0.00001
|
|
NM_182914.3(SYNE2):c.17560C>A (p.Leu5854Ile)
|
rs773797629
|
0.00001
|
|
NM_182914.3(SYNE2):c.17978A>G (p.Asp5993Gly)
|
rs2098511514
|
0.00001
|
|
NM_182914.3(SYNE2):c.17984A>T (p.Lys5995Met)
|
rs1021795243
|
0.00001
|
|
NM_182914.3(SYNE2):c.18004C>T (p.Arg6002Cys)
|
rs369083384
|
0.00001
|
|
NM_182914.3(SYNE2):c.18005G>A (p.Arg6002His)
|
rs764566778
|
0.00001
|
|
NM_182914.3(SYNE2):c.18013C>A (p.His6005Asn)
|
rs780648179
|
0.00001
|
|
NM_182914.3(SYNE2):c.18031G>A (p.Gly6011Arg)
|
rs145257568
|
0.00001
|
|
NM_182914.3(SYNE2):c.18038+5G>A
|
rs1328692834
|
0.00001
|
|
NM_182914.3(SYNE2):c.18118C>T (p.Arg6040Ter)
|
rs745320786
|
0.00001
|
|
NM_182914.3(SYNE2):c.18197A>G (p.Gln6066Arg)
|
rs1185481033
|
0.00001
|
|
NM_182914.3(SYNE2):c.18283G>A (p.Asp6095Asn)
|
rs1018261125
|
0.00001
|
|
NM_182914.3(SYNE2):c.18346C>T (p.Arg6116Cys)
|
rs762858190
|
0.00001
|
|
NM_182914.3(SYNE2):c.1836+6T>G
|
rs780035873
|
0.00001
|
|
NM_182914.3(SYNE2):c.1837G>A (p.Val613Ile)
|
rs761093953
|
0.00001
|
|
NM_182914.3(SYNE2):c.18694C>T (p.Arg6232Trp)
|
rs772056587
|
0.00001
|
|
NM_182914.3(SYNE2):c.18695G>A (p.Arg6232Gln)
|
rs549549436
|
0.00001
|
|
NM_182914.3(SYNE2):c.18952G>C (p.Asp6318His)
|
rs144627020
|
0.00001
|
|
NM_182914.3(SYNE2):c.19025G>A (p.Arg6342Gln)
|
rs987547244
|
0.00001
|
|
NM_182914.3(SYNE2):c.19033C>T (p.Arg6345Trp)
|
rs752861384
|
0.00001
|
|
NM_182914.3(SYNE2):c.19160C>T (p.Pro6387Leu)
|
rs756722459
|
0.00001
|
|
NM_182914.3(SYNE2):c.19234G>A (p.Val6412Met)
|
rs755527635
|
0.00001
|
|
NM_182914.3(SYNE2):c.19303G>A (p.Glu6435Lys)
|
rs138111654
|
0.00001
|
|
NM_182914.3(SYNE2):c.19542T>C (p.Tyr6514=)
|
rs904364473
|
0.00001
|
|
NM_182914.3(SYNE2):c.19589C>T (p.Pro6530Leu)
|
rs750341136
|
0.00001
|
|
NM_182914.3(SYNE2):c.19624G>T (p.Gly6542Trp)
|
rs746433383
|
0.00001
|
|
NM_182914.3(SYNE2):c.19625G>A (p.Gly6542Glu)
|
rs772447674
|
0.00001
|
|
NM_182914.3(SYNE2):c.19653G>C (p.Gln6551His)
|
rs762848054
|
0.00001
|
|
NM_182914.3(SYNE2):c.19679T>C (p.Met6560Thr)
|
rs1016791014
|
0.00001
|
|
NM_182914.3(SYNE2):c.19747A>G (p.Ile6583Val)
|
rs771974044
|
0.00001
|
|
NM_182914.3(SYNE2):c.19892C>T (p.Ala6631Val)
|
rs747881699
|
0.00001
|
|
NM_182914.3(SYNE2):c.199C>T (p.Leu67Phe)
|
rs954752155
|
0.00001
|
|
NM_182914.3(SYNE2):c.20073G>C (p.Gln6691His)
|
rs1555559928
|
0.00001
|
|
NM_182914.3(SYNE2):c.20115C>G (p.Asn6705Lys)
|
rs199800249
|
0.00001
|
|
NM_182914.3(SYNE2):c.20176C>T (p.Arg6726Trp)
|
rs371271767
|
0.00001
|
|
NM_182914.3(SYNE2):c.20185C>G (p.Leu6729Val)
|
rs771563821
|
0.00001
|
|
NM_182914.3(SYNE2):c.20216G>A (p.Arg6739His)
|
rs532853602
|
0.00001
|
|
NM_182914.3(SYNE2):c.20315T>C (p.Ile6772Thr)
|
rs1474759634
|
0.00001
|
|
NM_182914.3(SYNE2):c.20399T>C (p.Leu6800Pro)
|
rs763134759
|
0.00001
|
|
NM_182914.3(SYNE2):c.20428G>T (p.Asp6810Tyr)
|
rs1370786771
|
0.00001
|
|
NM_182914.3(SYNE2):c.20435C>G (p.Pro6812Arg)
|
rs749898798
|
0.00001
|
|
NM_182914.3(SYNE2):c.20452C>G (p.Pro6818Ala)
|
rs777951739
|
0.00001
|
|
NM_182914.3(SYNE2):c.20519T>A (p.Val6840Asp)
|
rs758858068
|
0.00001
|
|
NM_182914.3(SYNE2):c.20630C>T (p.Ser6877Phe)
|
rs548596262
|
0.00001
|
|
NM_182914.3(SYNE2):c.2152-3T>C
|
rs754264426
|
0.00001
|
|
NM_182914.3(SYNE2):c.2234A>G (p.Gln745Arg)
|
rs185674511
|
0.00001
|
|
NM_182914.3(SYNE2):c.2251G>T (p.Ala751Ser)
|
rs773172045
|
0.00001
|
|
NM_182914.3(SYNE2):c.2260A>C (p.Lys754Gln)
|
rs201892861
|
0.00001
|
|
NM_182914.3(SYNE2):c.2300A>T (p.Glu767Val)
|
rs138419017
|
0.00001
|
|
NM_182914.3(SYNE2):c.2348T>C (p.Leu783Pro)
|
rs755334815
|
0.00001
|
|
NM_182914.3(SYNE2):c.2362G>A (p.Glu788Lys)
|
rs767773345
|
0.00001
|
|
NM_182914.3(SYNE2):c.2522C>T (p.Ser841Leu)
|
rs1483737214
|
0.00001
|
|
NM_182914.3(SYNE2):c.262T>C (p.Phe88Leu)
|
rs978806035
|
0.00001
|
|
NM_182914.3(SYNE2):c.2781+4A>G
|
rs1941605291
|
0.00001
|
|
NM_182914.3(SYNE2):c.2839G>A (p.Gly947Arg)
|
rs1157242509
|
0.00001
|
|
NM_182914.3(SYNE2):c.28G>A (p.Glu10Lys)
|
rs781375790
|
0.00001
|
|
NM_182914.3(SYNE2):c.2900T>C (p.Ile967Thr)
|
rs1274813668
|
0.00001
|
|
NM_182914.3(SYNE2):c.2940G>A (p.Glu980=)
|
rs559579030
|
0.00001
|
|
NM_182914.3(SYNE2):c.3103G>A (p.Glu1035Lys)
|
rs770698687
|
0.00001
|
|
NM_182914.3(SYNE2):c.3160A>G (p.Ile1054Val)
|
rs773784466
|
0.00001
|
|
NM_182914.3(SYNE2):c.3311T>C (p.Met1104Thr)
|
rs778313924
|
0.00001
|
|
NM_182914.3(SYNE2):c.3325A>G (p.Ser1109Gly)
|
rs982358351
|
0.00001
|
|
NM_182914.3(SYNE2):c.3491A>G (p.Asn1164Ser)
|
rs1187492375
|
0.00001
|
|
NM_182914.3(SYNE2):c.3550G>A (p.Val1184Met)
|
rs377084463
|
0.00001
|
|
NM_182914.3(SYNE2):c.3556G>T (p.Asp1186Tyr)
|
rs898209839
|
0.00001
|
|
NM_182914.3(SYNE2):c.3613G>A (p.Glu1205Lys)
|
rs375217349
|
0.00001
|
|
NM_182914.3(SYNE2):c.3639-1G>C
|
rs1308678682
|
0.00001
|
|
NM_182914.3(SYNE2):c.3721C>G (p.Leu1241Val)
|
rs765556164
|
0.00001
|
|
NM_182914.3(SYNE2):c.3806C>T (p.Ala1269Val)
|
rs757090585
|
0.00001
|
|
NM_182914.3(SYNE2):c.3951G>T (p.Arg1317Ser)
|
rs911680539
|
0.00001
|
|
NM_182914.3(SYNE2):c.4126C>T (p.His1376Tyr)
|
rs765665332
|
0.00001
|
|
NM_182914.3(SYNE2):c.4190C>T (p.Thr1397Ile)
|
rs760136466
|
0.00001
|
|
NM_182914.3(SYNE2):c.4231T>C (p.Ser1411Pro)
|
rs748414819
|
0.00001
|
|
NM_182914.3(SYNE2):c.4309A>G (p.Asn1437Asp)
|
rs554653679
|
0.00001
|
|
NM_182914.3(SYNE2):c.4358T>C (p.Ile1453Thr)
|
rs139513761
|
0.00001
|
|
NM_182914.3(SYNE2):c.4375A>T (p.Thr1459Ser)
|
rs1482814444
|
0.00001
|
|
NM_182914.3(SYNE2):c.4849G>A (p.Glu1617Lys)
|
rs780380973
|
0.00001
|
|
NM_182914.3(SYNE2):c.5084A>G (p.Glu1695Gly)
|
rs746639416
|
0.00001
|
|
NM_182914.3(SYNE2):c.5096G>C (p.Arg1699Thr)
|
rs776002336
|
0.00001
|
|
NM_182914.3(SYNE2):c.5389A>G (p.Met1797Val)
|
rs199968665
|
0.00001
|
|
NM_182914.3(SYNE2):c.5410A>G (p.Ile1804Val)
|
rs755788132
|
0.00001
|
|
NM_182914.3(SYNE2):c.5677C>G (p.Gln1893Glu)
|
rs1170718601
|
0.00001
|
|
NM_182914.3(SYNE2):c.5710C>T (p.His1904Tyr)
|
rs762428121
|
0.00001
|
|
NM_182914.3(SYNE2):c.5849A>T (p.Asp1950Val)
|
rs1360576800
|
0.00001
|
|
NM_182914.3(SYNE2):c.586G>A (p.Ala196Thr)
|
rs765480562
|
0.00001
|
|
NM_182914.3(SYNE2):c.6040G>T (p.Glu2014Ter)
|
rs961554467
|
0.00001
|
|
NM_182914.3(SYNE2):c.605A>G (p.Asn202Ser)
|
rs746518493
|
0.00001
|
|
NM_182914.3(SYNE2):c.6119C>T (p.Pro2040Leu)
|
rs1277532834
|
0.00001
|
|
NM_182914.3(SYNE2):c.6194T>C (p.Met2065Thr)
|
rs768853189
|
0.00001
|
|
NM_182914.3(SYNE2):c.6350C>T (p.Thr2117Ile)
|
rs1258717242
|
0.00001
|
|
NM_182914.3(SYNE2):c.6370G>C (p.Asp2124His)
|
rs764621284
|
0.00001
|
|
NM_182914.3(SYNE2):c.6404+5A>G
|
rs571176673
|
0.00001
|
|
NM_182914.3(SYNE2):c.6429A>C (p.Glu2143Asp)
|
rs1344690423
|
0.00001
|
|
NM_182914.3(SYNE2):c.6742G>A (p.Val2248Ile)
|
rs767605722
|
0.00001
|
|
NM_182914.3(SYNE2):c.6764A>G (p.Gln2255Arg)
|
rs750058499
|
0.00001
|
|
NM_182914.3(SYNE2):c.6799A>G (p.Asn2267Asp)
|
rs961730782
|
0.00001
|
|
NM_182914.3(SYNE2):c.6994A>G (p.Ile2332Val)
|
rs372848337
|
0.00001
|
|
NM_182914.3(SYNE2):c.7028A>G (p.Glu2343Gly)
|
rs770601583
|
0.00001
|
|
NM_182914.3(SYNE2):c.7055A>T (p.Glu2352Val)
|
rs752190689
|
0.00001
|
|
NM_182914.3(SYNE2):c.7093C>T (p.Arg2365Cys)
|
rs781422804
|
0.00001
|
|
NM_182914.3(SYNE2):c.7139A>C (p.Lys2380Thr)
|
rs1157953928
|
0.00001
|
|
NM_182914.3(SYNE2):c.7297G>A (p.Glu2433Lys)
|
rs376116911
|
0.00001
|
|
NM_182914.3(SYNE2):c.7437A>T (p.Glu2479Asp)
|
rs375700055
|
0.00001
|
|
NM_182914.3(SYNE2):c.7508A>G (p.Asn2503Ser)
|
rs1160071284
|
0.00001
|
|
NM_182914.3(SYNE2):c.7569A>T (p.Arg2523Ser)
|
rs763858839
|
0.00001
|
|
NM_182914.3(SYNE2):c.7573T>A (p.Phe2525Ile)
|
rs202017993
|
0.00001
|
|
NM_182914.3(SYNE2):c.7694C>T (p.Ala2565Val)
|
rs200447122
|
0.00001
|
|
NM_182914.3(SYNE2):c.7759C>G (p.His2587Asp)
|
rs758573149
|
0.00001
|
|
NM_182914.3(SYNE2):c.8027A>G (p.Lys2676Arg)
|
rs2097230580
|
0.00001
|
|
NM_182914.3(SYNE2):c.8030A>G (p.His2677Arg)
|
rs777764821
|
0.00001
|
|
NM_182914.3(SYNE2):c.8077A>T (p.Ile2693Phe)
|
rs746691289
|
0.00001
|
|
NM_182914.3(SYNE2):c.8171A>T (p.Glu2724Val)
|
rs759977701
|
0.00001
|
|
NM_182914.3(SYNE2):c.8249T>G (p.Leu2750Arg)
|
rs750371615
|
0.00001
|
|
NM_182914.3(SYNE2):c.8348A>T (p.Glu2783Val)
|
rs773304417
|
0.00001
|
|
NM_182914.3(SYNE2):c.8364G>C (p.Glu2788Asp)
|
rs1020192497
|
0.00001
|
|
NM_182914.3(SYNE2):c.8417A>G (p.Asn2806Ser)
|
rs765407182
|
0.00001
|
|
NM_182914.3(SYNE2):c.8579G>C (p.Arg2860Thr)
|
rs752110658
|
0.00001
|
|
NM_182914.3(SYNE2):c.8600A>C (p.Glu2867Ala)
|
rs371387085
|
0.00001
|
|
NM_182914.3(SYNE2):c.860A>T (p.Asp287Val)
|
rs1595894380
|
0.00001
|
|
NM_182914.3(SYNE2):c.8639C>G (p.Ser2880Cys)
|
rs772011011
|
0.00001
|
|
NM_182914.3(SYNE2):c.8842T>C (p.Phe2948Leu)
|
rs1274158681
|
0.00001
|
|
NM_182914.3(SYNE2):c.8903T>C (p.Leu2968Ser)
|
rs2097237434
|
0.00001
|
|
NM_182914.3(SYNE2):c.9284A>G (p.Lys3095Arg)
|
rs771325522
|
0.00001
|
|
NM_182914.3(SYNE2):c.9501G>T (p.Gln3167His)
|
rs1026697162
|
0.00001
|
|
NM_182914.3(SYNE2):c.9631G>T (p.Ala3211Ser)
|
rs199853298
|
0.00001
|
|
NM_182914.3(SYNE2):c.9668C>T (p.Ala3223Val)
|
rs781250830
|
0.00001
|
|
NM_182914.3(SYNE2):c.9700G>C (p.Glu3234Gln)
|
rs372597797
|
0.00001
|
|
NM_182914.3(SYNE2):c.9717G>T (p.Gln3239His)
|
rs1428818552
|
0.00001
|
|
NM_182914.3(SYNE2):c.9779G>A (p.Arg3260His)
|
rs532861539
|
0.00001
|
|
NM_182914.3(SYNE2):c.9830C>G (p.Ala3277Gly)
|
rs758226884
|
0.00001
|
|
NM_182914.3(SYNE2):c.9943G>A (p.Glu3315Lys)
|
rs372982837
|
0.00001
|
|
NM_182914.3(SYNE2):c.9953G>A (p.Gly3318Glu)
|
rs2097266908
|
0.00001
|
|
NM_182961.4(SYNE1):c.10060G>C (p.Glu3354Gln)
|
rs773410652
|
0.00001
|
|
NM_182961.4(SYNE1):c.10093A>G (p.Ser3365Gly)
|
rs545457219
|
0.00001
|
|
NM_182961.4(SYNE1):c.10178G>A (p.Ser3393Asn)
|
rs1221490895
|
0.00001
|
|
NM_182961.4(SYNE1):c.10196G>A (p.Arg3399Gln)
|
rs368647352
|
0.00001
|
|
NM_182961.4(SYNE1):c.10223T>A (p.Met3408Lys)
|
rs1212823311
|
0.00001
|
|
NM_182961.4(SYNE1):c.1027A>G (p.Asn343Asp)
|
rs1289374962
|
0.00001
|
|
NM_182961.4(SYNE1):c.1028A>G (p.Asn343Ser)
|
rs372451128
|
0.00001
|
|
NM_182961.4(SYNE1):c.10366A>G (p.Met3456Val)
|
rs1270266905
|
0.00001
|
|
NM_182961.4(SYNE1):c.10415G>A (p.Arg3472Gln)
|
rs1255278240
|
0.00001
|
|
NM_182961.4(SYNE1):c.10471G>A (p.Val3491Ile)
|
rs886043016
|
0.00001
|
|
NM_182961.4(SYNE1):c.10608G>A (p.Gln3536=)
|
rs1246237055
|
0.00001
|
|
NM_182961.4(SYNE1):c.1063A>G (p.Arg355Gly)
|
rs149532009
|
0.00001
|
|
NM_182961.4(SYNE1):c.10669G>A (p.Glu3557Lys)
|
rs1485693688
|
0.00001
|
|
NM_182961.4(SYNE1):c.10709G>A (p.Arg3570Gln)
|
rs751191478
|
0.00001
|
|
NM_182961.4(SYNE1):c.10750C>T (p.His3584Tyr)
|
rs752209637
|
0.00001
|
|
NM_182961.4(SYNE1):c.10789G>T (p.Val3597Leu)
|
rs1301268425
|
0.00001
|
|
NM_182961.4(SYNE1):c.10799T>C (p.Leu3600Ser)
|
rs1444678849
|
0.00001
|
|
NM_182961.4(SYNE1):c.1097A>C (p.Glu366Ala)
|
rs372327585
|
0.00001
|
|
NM_182961.4(SYNE1):c.11179A>C (p.Asn3727His)
|
rs758415122
|
0.00001
|
|
NM_182961.4(SYNE1):c.11202G>C (p.Lys3734Asn)
|
rs761089261
|
0.00001
|
|
NM_182961.4(SYNE1):c.11285G>A (p.Ser3762Asn)
|
rs780889581
|
0.00001
|
|
NM_182961.4(SYNE1):c.11413C>T (p.Arg3805Trp)
|
rs572106956
|
0.00001
|
|
NM_182961.4(SYNE1):c.11496A>G (p.Ile3832Met)
|
rs1554518035
|
0.00001
|
|
NM_182961.4(SYNE1):c.11659G>C (p.Val3887Leu)
|
rs753931727
|
0.00001
|
|
NM_182961.4(SYNE1):c.11706T>A (p.Asp3902Glu)
|
rs775097525
|
0.00001
|
|
NM_182961.4(SYNE1):c.11726T>C (p.Ile3909Thr)
|
rs772794050
|
0.00001
|
|
NM_182961.4(SYNE1):c.11729G>A (p.Gly3910Glu)
|
rs373095359
|
0.00001
|
|
NM_182961.4(SYNE1):c.12100G>A (p.Glu4034Lys)
|
rs746532554
|
0.00001
|
|
NM_182961.4(SYNE1):c.12127G>A (p.Asp4043Asn)
|
rs369515853
|
0.00001
|
|
NM_182961.4(SYNE1):c.12128A>G (p.Asp4043Gly)
|
rs761744256
|
0.00001
|
|
NM_182961.4(SYNE1):c.12181C>T (p.Pro4061Ser)
|
rs780777858
|
0.00001
|
|
NM_182961.4(SYNE1):c.12217A>G (p.Ile4073Val)
|
rs886044158
|
0.00001
|
|
NM_182961.4(SYNE1):c.12226G>A (p.Val4076Ile)
|
rs754971865
|
0.00001
|
|
NM_182961.4(SYNE1):c.12266A>T (p.Tyr4089Phe)
|
rs1294787806
|
0.00001
|
|
NM_182961.4(SYNE1):c.12272A>G (p.Asp4091Gly)
|
rs767294741
|
0.00001
|
|
NM_182961.4(SYNE1):c.1228C>G (p.Pro410Ala)
|
rs770374751
|
0.00001
|
|
NM_182961.4(SYNE1):c.12302A>G (p.Asn4101Ser)
|
rs1201675371
|
0.00001
|
|
NM_182961.4(SYNE1):c.12308C>T (p.Ser4103Leu)
|
rs376766873
|
0.00001
|
|
NM_182961.4(SYNE1):c.12422A>C (p.Glu4141Ala)
|
rs1449281199
|
0.00001
|
|
NM_182961.4(SYNE1):c.1242A>G (p.Ile414Met)
|
rs2098918498
|
0.00001
|
|
NM_182961.4(SYNE1):c.1244G>A (p.Gly415Asp)
|
rs1459930095
|
0.00001
|
|
NM_182961.4(SYNE1):c.12499A>G (p.Ile4167Val)
|
rs769992083
|
0.00001
|
|
NM_182961.4(SYNE1):c.12541A>C (p.Lys4181Gln)
|
rs2096324088
|
0.00001
|
|
NM_182961.4(SYNE1):c.12713G>C (p.Arg4238Thr)
|
rs537532640
|
0.00001
|
|
NM_182961.4(SYNE1):c.12790G>A (p.Ala4264Thr)
|
rs745331052
|
0.00001
|
|
NM_182961.4(SYNE1):c.12829G>A (p.Ala4277Thr)
|
rs200140440
|
0.00001
|
|
NM_182961.4(SYNE1):c.12844G>C (p.Ala4282Pro)
|
rs1384390262
|
0.00001
|
|
NM_182961.4(SYNE1):c.12889G>A (p.Asp4297Asn)
|
rs757271177
|
0.00001
|
|
NM_182961.4(SYNE1):c.12901A>G (p.Lys4301Glu)
|
rs751661906
|
0.00001
|
|
NM_182961.4(SYNE1):c.12908T>A (p.Ile4303Lys)
|
rs752624372
|
0.00001
|
|
NM_182961.4(SYNE1):c.12985G>A (p.Glu4329Lys)
|
rs752661205
|
0.00001
|
|
NM_182961.4(SYNE1):c.1304A>G (p.His435Arg)
|
rs543437113
|
0.00001
|
|
NM_182961.4(SYNE1):c.13050G>T (p.Gln4350His)
|
rs34464554
|
0.00001
|
|
NM_182961.4(SYNE1):c.13094C>A (p.Pro4365His)
|
rs779970152
|
0.00001
|
|
NM_182961.4(SYNE1):c.13099A>G (p.Ile4367Val)
|
rs1157664680
|
0.00001
|
|
NM_182961.4(SYNE1):c.13100T>C (p.Ile4367Thr)
|
rs371405185
|
0.00001
|
|
NM_182961.4(SYNE1):c.13231G>T (p.Val4411Phe)
|
rs768553487
|
0.00001
|
|
NM_182961.4(SYNE1):c.13310T>C (p.Leu4437Pro)
|
rs745789075
|
0.00001
|
|
NM_182961.4(SYNE1):c.13433T>C (p.Phe4478Ser)
|
rs886042314
|
0.00001
|
|
NM_182961.4(SYNE1):c.13435C>T (p.Arg4479Cys)
|
rs778601377
|
0.00001
|
|
NM_182961.4(SYNE1):c.13555G>A (p.Glu4519Lys)
|
rs571224180
|
0.00001
|
|
NM_182961.4(SYNE1):c.13573A>G (p.Thr4525Ala)
|
rs909205583
|
0.00001
|
|
NM_182961.4(SYNE1):c.13580A>G (p.Gln4527Arg)
|
rs747550581
|
0.00001
|
|
NM_182961.4(SYNE1):c.13684G>A (p.Val4562Ile)
|
rs973116936
|
0.00001
|
|
NM_182961.4(SYNE1):c.13832A>C (p.Gln4611Pro)
|
rs762392590
|
0.00001
|
|
NM_182961.4(SYNE1):c.13895C>T (p.Ser4632Leu)
|
rs377099959
|
0.00001
|
|
NM_182961.4(SYNE1):c.13901A>G (p.Asn4634Ser)
|
rs1362233016
|
0.00001
|
|
NM_182961.4(SYNE1):c.13952A>T (p.Gln4651Leu)
|
rs374697325
|
0.00001
|
|
NM_182961.4(SYNE1):c.13989C>A (p.Phe4663Leu)
|
rs1166869172
|
0.00001
|
|
NM_182961.4(SYNE1):c.13991A>G (p.Tyr4664Cys)
|
rs367979558
|
0.00001
|
|
NM_182961.4(SYNE1):c.1402C>T (p.Arg468Trp)
|
rs1469601635
|
0.00001
|
|
NM_182961.4(SYNE1):c.14140G>A (p.Asp4714Asn)
|
rs765759628
|
0.00001
|
|
NM_182961.4(SYNE1):c.1414G>A (p.Val472Ile)
|
rs952688216
|
0.00001
|
|
NM_182961.4(SYNE1):c.14152G>A (p.Ala4718Thr)
|
rs759856569
|
0.00001
|
|
NM_182961.4(SYNE1):c.14189T>A (p.Val4730Glu)
|
rs141752799
|
0.00001
|
|
NM_182961.4(SYNE1):c.14225G>A (p.Ser4742Asn)
|
rs763637795
|
0.00001
|
|
NM_182961.4(SYNE1):c.14341C>G (p.Gln4781Glu)
|
rs750831528
|
0.00001
|
|
NM_182961.4(SYNE1):c.14365C>G (p.Gln4789Glu)
|
rs764205112
|
0.00001
|
|
NM_182961.4(SYNE1):c.14463G>A (p.Leu4821=)
|
rs758516967
|
0.00001
|
|
NM_182961.4(SYNE1):c.14485G>A (p.Gly4829Arg)
|
rs1278211656
|
0.00001
|
|
NM_182961.4(SYNE1):c.14530C>A (p.Pro4844Thr)
|
rs747838657
|
0.00001
|
|
NM_182961.4(SYNE1):c.14561C>T (p.Ala4854Val)
|
rs931699788
|
0.00001
|
|
NM_182961.4(SYNE1):c.14565G>C (p.Arg4855Ser)
|
rs1237053788
|
0.00001
|
|
NM_182961.4(SYNE1):c.14634A>C (p.Glu4878Asp)
|
rs1159750019
|
0.00001
|
|
NM_182961.4(SYNE1):c.14670G>C (p.Gln4890His)
|
rs150266354
|
0.00001
|
|
NM_182961.4(SYNE1):c.14722A>C (p.Ser4908Arg)
|
rs750417575
|
0.00001
|
|
NM_182961.4(SYNE1):c.14758A>T (p.Ile4920Phe)
|
rs555355654
|
0.00001
|
|
NM_182961.4(SYNE1):c.14833A>C (p.Ser4945Arg)
|
rs2096203231
|
0.00001
|
|
NM_182961.4(SYNE1):c.1486T>A (p.Ser496Thr)
|
rs1392726878
|
0.00001
|
|
NM_182961.4(SYNE1):c.14948C>T (p.Thr4983Ile)
|
rs765961446
|
0.00001
|
|
NM_182961.4(SYNE1):c.14955G>C (p.Gln4985His)
|
rs890021376
|
0.00001
|
|
NM_182961.4(SYNE1):c.14975A>G (p.Tyr4992Cys)
|
rs753602210
|
0.00001
|
|
NM_182961.4(SYNE1):c.15106A>G (p.Met5036Val)
|
rs755539687
|
0.00001
|
|
NM_182961.4(SYNE1):c.15124G>C (p.Glu5042Gln)
|
rs533927341
|
0.00001
|
|
NM_182961.4(SYNE1):c.15197C>G (p.Thr5066Ser)
|
rs373690809
|
0.00001
|
|
NM_182961.4(SYNE1):c.15245G>A (p.Ser5082Asn)
|
rs760935405
|
0.00001
|
|
NM_182961.4(SYNE1):c.15366G>T (p.Lys5122Asn)
|
rs764169067
|
0.00001
|
|
NM_182961.4(SYNE1):c.15398C>T (p.Ser5133Leu)
|
rs771550432
|
0.00001
|
|
NM_182961.4(SYNE1):c.1544T>A (p.Leu515Gln)
|
rs544309811
|
0.00001
|
|
NM_182961.4(SYNE1):c.15557C>A (p.Thr5186Asn)
|
rs768676733
|
0.00001
|
|
NM_182961.4(SYNE1):c.15587G>A (p.Arg5196Gln)
|
rs752229373
|
0.00001
|
|
NM_182961.4(SYNE1):c.15661A>G (p.Lys5221Glu)
|
rs764500952
|
0.00001
|
|
NM_182961.4(SYNE1):c.15815G>A (p.Arg5272Gln)
|
rs201750136
|
0.00001
|
|
NM_182961.4(SYNE1):c.15908G>C (p.Arg5303Pro)
|
rs537825329
|
0.00001
|
|
NM_182961.4(SYNE1):c.15938C>G (p.Thr5313Ser)
|
rs779313924
|
0.00001
|
|
NM_182961.4(SYNE1):c.15974G>A (p.Arg5325Gln)
|
rs1233067296
|
0.00001
|
|
NM_182961.4(SYNE1):c.16294C>T (p.Arg5432Trp)
|
rs575137601
|
0.00001
|
|
NM_182961.4(SYNE1):c.16313C>T (p.Ala5438Val)
|
rs1229397934
|
0.00001
|
|
NM_182961.4(SYNE1):c.1631T>C (p.Val544Ala)
|
rs148295255
|
0.00001
|
|
NM_182961.4(SYNE1):c.16409A>G (p.Asp5470Gly)
|
rs747824937
|
0.00001
|
|
NM_182961.4(SYNE1):c.16544C>G (p.Ala5515Gly)
|
rs1021830711
|
0.00001
|
|
NM_182961.4(SYNE1):c.16593A>T (p.Glu5531Asp)
|
rs769306377
|
0.00001
|
|
NM_182961.4(SYNE1):c.16601A>C (p.Glu5534Ala)
|
rs1313738847
|
0.00001
|
|
NM_182961.4(SYNE1):c.16709A>G (p.Gln5570Arg)
|
rs928178334
|
0.00001
|
|
NM_182961.4(SYNE1):c.16785C>T (p.Ser5595=)
|
rs142010074
|
0.00001
|
|
NM_182961.4(SYNE1):c.16832G>A (p.Arg5611Gln)
|
rs746879340
|
0.00001
|
|
NM_182961.4(SYNE1):c.16999G>A (p.Glu5667Lys)
|
rs749088509
|
0.00001
|
|
NM_182961.4(SYNE1):c.169A>G (p.Met57Val)
|
rs1031712545
|
0.00001
|
|
NM_182961.4(SYNE1):c.17098G>A (p.Glu5700Lys)
|
rs1227780117
|
0.00001
|
|
NM_182961.4(SYNE1):c.17189G>A (p.Cys5730Tyr)
|
rs759609921
|
0.00001
|
|
NM_182961.4(SYNE1):c.17326G>T (p.Ala5776Ser)
|
rs774018511
|
0.00001
|
|
NM_182961.4(SYNE1):c.17332A>G (p.Ile5778Val)
|
rs762422242
|
0.00001
|
|
NM_182961.4(SYNE1):c.17347G>C (p.Glu5783Gln)
|
rs754105532
|
0.00001
|
|
NM_182961.4(SYNE1):c.17434G>A (p.Ala5812Thr)
|
rs775815795
|
0.00001
|
|
NM_182961.4(SYNE1):c.17443C>G (p.Leu5815Val)
|
rs987594036
|
0.00001
|
|
NM_182961.4(SYNE1):c.17464G>C (p.Glu5822Gln)
|
rs2095193468
|
0.00001
|
|
NM_182961.4(SYNE1):c.17544G>A (p.Met5848Ile)
|
rs766625615
|
0.00001
|
|
NM_182961.4(SYNE1):c.17564C>T (p.Thr5855Ile)
|
rs1336941426
|
0.00001
|
|
NM_182961.4(SYNE1):c.17624C>A (p.Ser5875Tyr)
|
rs1043563187
|
0.00001
|
|
NM_182961.4(SYNE1):c.17912C>G (p.Ser5971Cys)
|
rs753835774
|
0.00001
|
|
NM_182961.4(SYNE1):c.17945T>C (p.Ile5982Thr)
|
rs375798794
|
0.00001
|
|
NM_182961.4(SYNE1):c.17980_17988del (p.Arg5994_Pro5996del)
|
rs2094716921
|
0.00001
|
|
NM_182961.4(SYNE1):c.18079G>C (p.Glu6027Gln)
|
rs745822192
|
0.00001
|
|
NM_182961.4(SYNE1):c.18103G>T (p.Ala6035Ser)
|
rs557248018
|
0.00001
|
|
NM_182961.4(SYNE1):c.18113C>T (p.Ala6038Val)
|
rs752183118
|
0.00001
|
|
NM_182961.4(SYNE1):c.18137C>T (p.Thr6046Met)
|
rs372219741
|
0.00001
|
|
NM_182961.4(SYNE1):c.18154G>A (p.Glu6052Lys)
|
rs1279573379
|
0.00001
|
|
NM_182961.4(SYNE1):c.18290G>T (p.Ser6097Ile)
|
rs899182753
|
0.00001
|
|
NM_182961.4(SYNE1):c.18326C>T (p.Ala6109Val)
|
rs549373990
|
0.00001
|
|
NM_182961.4(SYNE1):c.18513G>T (p.Arg6171Ser)
|
rs764725032
|
0.00001
|
|
NM_182961.4(SYNE1):c.18573+3G>A
|
rs886044046
|
0.00001
|
|
NM_182961.4(SYNE1):c.18594G>C (p.Glu6198Asp)
|
rs776024100
|
0.00001
|
|
NM_182961.4(SYNE1):c.18655G>C (p.Ala6219Pro)
|
rs538161615
|
0.00001
|
|
NM_182961.4(SYNE1):c.18745C>T (p.Arg6249Cys)
|
rs1270352436
|
0.00001
|
|
NM_182961.4(SYNE1):c.18748T>C (p.Ser6250Pro)
|
rs371489057
|
0.00001
|
|
NM_182961.4(SYNE1):c.18760C>T (p.Arg6254Cys)
|
rs139449273
|
0.00001
|
|
NM_182961.4(SYNE1):c.18761G>A (p.Arg6254His)
|
rs752272082
|
0.00001
|
|
NM_182961.4(SYNE1):c.18788C>T (p.Ser6263Leu)
|
rs141196768
|
0.00001
|
|
NM_182961.4(SYNE1):c.18842A>C (p.Glu6281Ala)
|
rs965275563
|
0.00001
|
|
NM_182961.4(SYNE1):c.19124A>G (p.Gln6375Arg)
|
rs909589026
|
0.00001
|
|
NM_182961.4(SYNE1):c.19223T>C (p.Leu6408Ser)
|
rs758337239
|
0.00001
|
|
NM_182961.4(SYNE1):c.19243T>G (p.Cys6415Gly)
|
rs1398807335
|
0.00001
|
|
NM_182961.4(SYNE1):c.19352G>A (p.Arg6451Gln)
|
rs943903359
|
0.00001
|
|
NM_182961.4(SYNE1):c.19366G>A (p.Asp6456Asn)
|
rs376421422
|
0.00001
|
|
NM_182961.4(SYNE1):c.19386G>C (p.Leu6462Phe)
|
rs1453005046
|
0.00001
|
|
NM_182961.4(SYNE1):c.1946A>G (p.Asn649Ser)
|
rs756816038
|
0.00001
|
|
NM_182961.4(SYNE1):c.19470+5G>A
|
rs775233950
|
0.00001
|
|
NM_182961.4(SYNE1):c.19492A>G (p.Thr6498Ala)
|
rs2088379630
|
0.00001
|
|
NM_182961.4(SYNE1):c.19600A>C (p.Lys6534Gln)
|
rs1377270650
|
0.00001
|
|
NM_182961.4(SYNE1):c.19636C>T (p.Arg6546Cys)
|
rs369420729
|
0.00001
|
|
NM_182961.4(SYNE1):c.19637G>A (p.Arg6546His)
|
rs375565416
|
0.00001
|
|
NM_182961.4(SYNE1):c.19640G>A (p.Gly6547Asp)
|
rs766241487
|
0.00001
|
|
NM_182961.4(SYNE1):c.1984G>A (p.Asp662Asn)
|
rs755573339
|
0.00001
|
|
NM_182961.4(SYNE1):c.19867A>G (p.Ile6623Val)
|
rs368088542
|
0.00001
|
|
NM_182961.4(SYNE1):c.19886A>C (p.Lys6629Thr)
|
rs764885262
|
0.00001
|
|
NM_182961.4(SYNE1):c.19970A>G (p.Gln6657Arg)
|
rs751964300
|
0.00001
|
|
NM_182961.4(SYNE1):c.20003C>T (p.Ala6668Val)
|
rs1483994641
|
0.00001
|
|
NM_182961.4(SYNE1):c.20234A>G (p.Lys6745Arg)
|
rs769256850
|
0.00001
|
|
NM_182961.4(SYNE1):c.20278A>G (p.Ile6760Val)
|
rs532550838
|
0.00001
|
|
NM_182961.4(SYNE1):c.20314C>T (p.Leu6772Phe)
|
rs1309947836
|
0.00001
|
|
NM_182961.4(SYNE1):c.20328G>C (p.Trp6776Cys)
|
rs539439844
|
0.00001
|
|
NM_182961.4(SYNE1):c.20433A>T (p.Leu6811Phe)
|
rs766238098
|
0.00001
|
|
NM_182961.4(SYNE1):c.20546T>C (p.Val6849Ala)
|
rs886043522
|
0.00001
|
|
NM_182961.4(SYNE1):c.20549A>T (p.Asp6850Val)
|
rs773506774
|
0.00001
|
|
NM_182961.4(SYNE1):c.20627C>T (p.Thr6876Met)
|
rs144417950
|
0.00001
|
|
NM_182961.4(SYNE1):c.20645C>T (p.Ser6882Leu)
|
rs373012438
|
0.00001
|
|
NM_182961.4(SYNE1):c.20647C>T (p.Arg6883Cys)
|
rs746823107
|
0.00001
|
|
NM_182961.4(SYNE1):c.20650A>G (p.Ile6884Val)
|
rs752179906
|
0.00001
|
|
NM_182961.4(SYNE1):c.20762G>A (p.Ser6921Asn)
|
rs372288820
|
0.00001
|
|
NM_182961.4(SYNE1):c.20821A>G (p.Ile6941Val)
|
rs191912037
|
0.00001
|
|
NM_182961.4(SYNE1):c.20836A>G (p.Ile6946Val)
|
rs758767378
|
0.00001
|
|
NM_182961.4(SYNE1):c.2086G>A (p.Glu696Lys)
|
rs746477050
|
0.00001
|
|
NM_182961.4(SYNE1):c.20920G>A (p.Val6974Met)
|
rs767422903
|
0.00001
|
|
NM_182961.4(SYNE1):c.20957G>A (p.Arg6986His)
|
rs772675312
|
0.00001
|
|
NM_182961.4(SYNE1):c.21039+6C>G
|
rs368575705
|
0.00001
|
|
NM_182961.4(SYNE1):c.21077A>C (p.Glu7026Ala)
|
rs777755452
|
0.00001
|
|
NM_182961.4(SYNE1):c.21163G>C (p.Ala7055Pro)
|
rs772233604
|
0.00001
|
|
NM_182961.4(SYNE1):c.2118G>A (p.Met706Ile)
|
rs757676303
|
0.00001
|
|
NM_182961.4(SYNE1):c.21197A>G (p.Asp7066Gly)
|
rs755014049
|
0.00001
|
|
NM_182961.4(SYNE1):c.21199C>G (p.Leu7067Val)
|
rs749058571
|
0.00001
|
|
NM_182961.4(SYNE1):c.21302T>G (p.Met7101Arg)
|
rs769405487
|
0.00001
|
|
NM_182961.4(SYNE1):c.2155A>G (p.Thr719Ala)
|
rs1792916692
|
0.00001
|
|
NM_182961.4(SYNE1):c.21610C>A (p.Pro7204Thr)
|
rs1257118792
|
0.00001
|
|
NM_182961.4(SYNE1):c.21652A>G (p.Met7218Val)
|
rs763768133
|
0.00001
|
|
NM_182961.4(SYNE1):c.2168T>C (p.Phe723Ser)
|
rs1348902701
|
0.00001
|
|
NM_182961.4(SYNE1):c.21835G>A (p.Val7279Ile)
|
rs747185019
|
0.00001
|
|
NM_182961.4(SYNE1):c.21907C>T (p.Leu7303Phe)
|
rs753138419
|
0.00001
|
|
NM_182961.4(SYNE1):c.22003G>A (p.Ala7335Thr)
|
rs1029115177
|
0.00001
|
|
NM_182961.4(SYNE1):c.22163C>T (p.Thr7388Ile)
|
rs938003229
|
0.00001
|
|
NM_182961.4(SYNE1):c.22171G>A (p.Glu7391Lys)
|
rs751761981
|
0.00001
|
|
NM_182961.4(SYNE1):c.22304G>A (p.Arg7435His)
|
rs748260996
|
0.00001
|
|
NM_182961.4(SYNE1):c.22405A>G (p.Met7469Val)
|
rs751450784
|
0.00001
|
|
NM_182961.4(SYNE1):c.22431A>C (p.Gln7477His)
|
rs752421314
|
0.00001
|
|
NM_182961.4(SYNE1):c.22492G>A (p.Glu7498Lys)
|
rs762050668
|
0.00001
|
|
NM_182961.4(SYNE1):c.22543A>G (p.Ile7515Val)
|
rs369260919
|
0.00001
|
|
NM_182961.4(SYNE1):c.22602C>G (p.Asn7534Lys)
|
rs1383141765
|
0.00001
|
|
NM_182961.4(SYNE1):c.22693T>C (p.Trp7565Arg)
|
rs1166773141
|
0.00001
|
|
NM_182961.4(SYNE1):c.22733G>T (p.Trp7578Leu)
|
rs1215390720
|
0.00001
|
|
NM_182961.4(SYNE1):c.22735T>A (p.Leu7579Met)
|
rs1257304725
|
0.00001
|
|
NM_182961.4(SYNE1):c.22744G>A (p.Val7582Met)
|
rs748623485
|
0.00001
|
|
NM_182961.4(SYNE1):c.22771G>A (p.Gly7591Arg)
|
rs886042946
|
0.00001
|
|
NM_182961.4(SYNE1):c.22772G>A (p.Gly7591Glu)
|
rs540603947
|
0.00001
|
|
NM_182961.4(SYNE1):c.22834A>G (p.Lys7612Glu)
|
rs1434935687
|
0.00001
|
|
NM_182961.4(SYNE1):c.22837G>C (p.Val7613Leu)
|
rs776253447
|
0.00001
|
|
NM_182961.4(SYNE1):c.22838T>C (p.Val7613Ala)
|
rs1402188826
|
0.00001
|
|
NM_182961.4(SYNE1):c.22847G>A (p.Arg7616Gln)
|
rs780964504
|
0.00001
|
|
NM_182961.4(SYNE1):c.22905G>A (p.Ala7635=)
|
rs758511859
|
0.00001
|
|
NM_182961.4(SYNE1):c.22929G>T (p.Leu7643Phe)
|
rs764300736
|
0.00001
|
|
NM_182961.4(SYNE1):c.22986A>C (p.Glu7662Asp)
|
rs763100950
|
0.00001
|
|
NM_182961.4(SYNE1):c.2299A>C (p.Thr767Pro)
|
rs1350005154
|
0.00001
|
|
NM_182961.4(SYNE1):c.2300C>T (p.Thr767Ile)
|
rs750186803
|
0.00001
|
|
NM_182961.4(SYNE1):c.23069G>A (p.Arg7690Gln)
|
rs1204207131
|
0.00001
|
|
NM_182961.4(SYNE1):c.23116G>C (p.Glu7706Gln)
|
rs200066979
|
0.00001
|
|
NM_182961.4(SYNE1):c.23138G>A (p.Arg7713His)
|
rs750911961
|
0.00001
|
|
NM_182961.4(SYNE1):c.23162T>C (p.Val7721Ala)
|
rs374073415
|
0.00001
|
|
NM_182961.4(SYNE1):c.23243C>G (p.Ser7748Cys)
|
rs1289070478
|
0.00001
|
|
NM_182961.4(SYNE1):c.23248C>T (p.Leu7750Phe)
|
rs778500015
|
0.00001
|
|
NM_182961.4(SYNE1):c.23258G>A (p.Arg7753His)
|
rs779568455
|
0.00001
|
|
NM_182961.4(SYNE1):c.23288A>G (p.Glu7763Gly)
|
rs765427429
|
0.00001
|
|
NM_182961.4(SYNE1):c.23374C>A (p.Leu7792Ile)
|
rs376844951
|
0.00001
|
|
NM_182961.4(SYNE1):c.23444T>C (p.Ile7815Thr)
|
rs1391158473
|
0.00001
|
|
NM_182961.4(SYNE1):c.2347A>C (p.Lys783Gln)
|
rs1259951823
|
0.00001
|
|
NM_182961.4(SYNE1):c.23549G>T (p.Ser7850Ile)
|
rs781532655
|
0.00001
|
|
NM_182961.4(SYNE1):c.23617A>G (p.Ile7873Val)
|
rs1249661326
|
0.00001
|
|
NM_182961.4(SYNE1):c.2374C>T (p.Leu792Phe)
|
rs1172072268
|
0.00001
|
|
NM_182961.4(SYNE1):c.23766A>G (p.Ile7922Met)
|
rs1399057012
|
0.00001
|
|
NM_182961.4(SYNE1):c.23771G>A (p.Arg7924Lys)
|
rs1178007789
|
0.00001
|
|
NM_182961.4(SYNE1):c.23890G>A (p.Ala7964Thr)
|
rs780744047
|
0.00001
|
|
NM_182961.4(SYNE1):c.23893G>A (p.Glu7965Lys)
|
rs753219547
|
0.00001
|
|
NM_182961.4(SYNE1):c.23918C>T (p.Thr7973Met)
|
rs558928607
|
0.00001
|
|
NM_182961.4(SYNE1):c.23935C>T (p.Arg7979Trp)
|
rs762991088
|
0.00001
|
|
NM_182961.4(SYNE1):c.23957T>C (p.Met7986Thr)
|
rs146463833
|
0.00001
|
|
NM_182961.4(SYNE1):c.23969G>A (p.Arg7990Lys)
|
rs777371816
|
0.00001
|
|
NM_182961.4(SYNE1):c.23996G>A (p.Arg7999Gln)
|
rs267600862
|
0.00001
|
|
NM_182961.4(SYNE1):c.24004C>G (p.Gln8002Glu)
|
rs1361081346
|
0.00001
|
|
NM_182961.4(SYNE1):c.24029G>A (p.Arg8010His)
|
rs776221173
|
0.00001
|
|
NM_182961.4(SYNE1):c.24191G>A (p.Arg8064His)
|
rs1042685641
|
0.00001
|
|
NM_182961.4(SYNE1):c.24211C>T (p.Arg8071Cys)
|
rs1380424994
|
0.00001
|
|
NM_182961.4(SYNE1):c.24212G>A (p.Arg8071His)
|
rs1338634888
|
0.00001
|
|
NM_182961.4(SYNE1):c.24312+8C>G
|
rs780026181
|
0.00001
|
|
NM_182961.4(SYNE1):c.24350G>A (p.Arg8117Gln)
|
rs777435137
|
0.00001
|
|
NM_182961.4(SYNE1):c.24401T>C (p.Ile8134Thr)
|
rs774707282
|
0.00001
|
|
NM_182961.4(SYNE1):c.24424G>T (p.Val8142Phe)
|
rs1389166406
|
0.00001
|
|
NM_182961.4(SYNE1):c.24429A>T (p.Gln8143His)
|
rs775617906
|
0.00001
|
|
NM_182961.4(SYNE1):c.24535C>A (p.Pro8179Thr)
|
rs2060075935
|
0.00001
|
|
NM_182961.4(SYNE1):c.24566T>A (p.Leu8189Gln)
|
rs201193141
|
0.00001
|
|
NM_182961.4(SYNE1):c.24601G>A (p.Gly8201Arg)
|
rs886042886
|
0.00001
|
|
NM_182961.4(SYNE1):c.24839C>G (p.Ser8280Cys)
|
rs1480247904
|
0.00001
|
|
NM_182961.4(SYNE1):c.24949T>C (p.Tyr8317His)
|
rs777322468
|
0.00001
|
|
NM_182961.4(SYNE1):c.24983A>G (p.His8328Arg)
|
rs1239507497
|
0.00001
|
|
NM_182961.4(SYNE1):c.25007G>A (p.Arg8336Gln)
|
rs200684943
|
0.00001
|
|
NM_182961.4(SYNE1):c.25119C>T (p.Tyr8373=)
|
rs144685965
|
0.00001
|
|
NM_182961.4(SYNE1):c.25132G>A (p.Gly8378Ser)
|
rs780271781
|
0.00001
|
|
NM_182961.4(SYNE1):c.25144A>G (p.Ser8382Gly)
|
rs1306354261
|
0.00001
|
|
NM_182961.4(SYNE1):c.25225A>G (p.Ser8409Gly)
|
rs200377339
|
0.00001
|
|
NM_182961.4(SYNE1):c.25246+3G>A
|
rs765849365
|
0.00001
|
|
NM_182961.4(SYNE1):c.25447A>G (p.Lys8483Glu)
|
rs1253032018
|
0.00001
|
|
NM_182961.4(SYNE1):c.25552C>T (p.Arg8518Trp)
|
rs375616724
|
0.00001
|
|
NM_182961.4(SYNE1):c.25553G>A (p.Arg8518Gln)
|
rs370008122
|
0.00001
|
|
NM_182961.4(SYNE1):c.25568G>A (p.Arg8523His)
|
rs759577495
|
0.00001
|
|
NM_182961.4(SYNE1):c.25601T>C (p.Val8534Ala)
|
rs746452797
|
0.00001
|
|
NM_182961.4(SYNE1):c.25624C>T (p.Arg8542Trp)
|
rs764235096
|
0.00001
|
|
NM_182961.4(SYNE1):c.25637A>G (p.Gln8546Arg)
|
rs529921934
|
0.00001
|
|
NM_182961.4(SYNE1):c.25650G>A (p.Met8550Ile)
|
rs1354935363
|
0.00001
|
|
NM_182961.4(SYNE1):c.25706T>C (p.Ile8569Thr)
|
rs760698113
|
0.00001
|
|
NM_182961.4(SYNE1):c.25724A>T (p.Glu8575Val)
|
rs1258380992
|
0.00001
|
|
NM_182961.4(SYNE1):c.25735A>G (p.Ile8579Val)
|
rs200178554
|
0.00001
|
|
NM_182961.4(SYNE1):c.25736T>C (p.Ile8579Thr)
|
rs370566643
|
0.00001
|
|
NM_182961.4(SYNE1):c.25860G>A (p.Leu8620=)
|
rs751355623
|
0.00001
|
|
NM_182961.4(SYNE1):c.2594G>A (p.Cys865Tyr)
|
rs1229969547
|
0.00001
|
|
NM_182961.4(SYNE1):c.25951C>T (p.Arg8651Cys)
|
rs149045775
|
0.00001
|
|
NM_182961.4(SYNE1):c.26001+4A>G
|
rs746958913
|
0.00001
|
|
NM_182961.4(SYNE1):c.26072G>A (p.Ser8691Asn)
|
rs753533241
|
0.00001
|
|
NM_182961.4(SYNE1):c.26078C>A (p.Pro8693Gln)
|
rs147829200
|
0.00001
|
|
NM_182961.4(SYNE1):c.2608A>T (p.Thr870Ser)
|
rs773195787
|
0.00001
|
|
NM_182961.4(SYNE1):c.26099G>A (p.Arg8700Gln)
|
rs758942329
|
0.00001
|
|
NM_182961.4(SYNE1):c.26173G>A (p.Asp8725Asn)
|
rs767663894
|
0.00001
|
|
NM_182961.4(SYNE1):c.26177C>T (p.Ser8726Phe)
|
rs751627369
|
0.00001
|
|
NM_182961.4(SYNE1):c.26213G>A (p.Arg8738His)
|
rs1276774540
|
0.00001
|
|
NM_182961.4(SYNE1):c.26215G>A (p.Gly8739Ser)
|
rs780574537
|
0.00001
|
|
NM_182961.4(SYNE1):c.26237G>A (p.Arg8746Gln)
|
rs757466963
|
0.00001
|
|
NM_182961.4(SYNE1):c.26345G>A (p.Arg8782Gln)
|
rs550697327
|
0.00001
|
|
NM_182961.4(SYNE1):c.26362C>T (p.Leu8788Phe)
|
rs747405346
|
0.00001
|
|
NM_182961.4(SYNE1):c.2662G>A (p.Val888Met)
|
rs756888254
|
0.00001
|
|
NM_182961.4(SYNE1):c.2693A>T (p.Gln898Leu)
|
rs898451919
|
0.00001
|
|
NM_182961.4(SYNE1):c.269C>T (p.Ala90Val)
|
rs2099133562
|
0.00001
|
|
NM_182961.4(SYNE1):c.26G>A (p.Arg9Gln)
|
rs1196383268
|
0.00001
|
|
NM_182961.4(SYNE1):c.2728-5T>A
|
rs775558169
|
0.00001
|
|
NM_182961.4(SYNE1):c.2768A>T (p.Glu923Val)
|
rs376880609
|
0.00001
|
|
NM_182961.4(SYNE1):c.2807G>A (p.Arg936Gln)
|
rs537794828
|
0.00001
|
|
NM_182961.4(SYNE1):c.2809G>A (p.Ala937Thr)
|
rs570242828
|
0.00001
|
|
NM_182961.4(SYNE1):c.2959G>A (p.Asp987Asn)
|
rs1374710512
|
0.00001
|
|
NM_182961.4(SYNE1):c.3028-4G>A
|
rs1380560355
|
0.00001
|
|
NM_182961.4(SYNE1):c.3046C>T (p.Pro1016Ser)
|
rs763255748
|
0.00001
|
|
NM_182961.4(SYNE1):c.310-469C>T
|
rs762351812
|
0.00001
|
|
NM_182961.4(SYNE1):c.310-485A>G
|
rs764771842
|
0.00001
|
|
NM_182961.4(SYNE1):c.3131G>A (p.Arg1044Gln)
|
rs199888697
|
0.00001
|
|
NM_182961.4(SYNE1):c.3168G>T (p.Lys1056Asn)
|
rs144982424
|
0.00001
|
|
NM_182961.4(SYNE1):c.3185G>A (p.Arg1062Lys)
|
rs771821092
|
0.00001
|
|
NM_182961.4(SYNE1):c.3186+5G>A
|
rs778578295
|
0.00001
|
|
NM_182961.4(SYNE1):c.3382G>C (p.Asp1128His)
|
rs886061213
|
0.00001
|
|
NM_182961.4(SYNE1):c.3454G>A (p.Gly1152Ser)
|
rs749547744
|
0.00001
|
|
NM_182961.4(SYNE1):c.3499G>A (p.Val1167Ile)
|
rs142734877
|
0.00001
|
|
NM_182961.4(SYNE1):c.3504+5G>A
|
rs1398879746
|
0.00001
|
|
NM_182961.4(SYNE1):c.3506A>T (p.Glu1169Val)
|
rs750101869
|
0.00001
|
|
NM_182961.4(SYNE1):c.3541C>T (p.Leu1181Phe)
|
rs1203451912
|
0.00001
|
|
NM_182961.4(SYNE1):c.3638C>A (p.Ser1213Tyr)
|
rs1226690928
|
0.00001
|
|
NM_182961.4(SYNE1):c.3643A>C (p.Lys1215Gln)
|
rs370014940
|
0.00001
|
|
NM_182961.4(SYNE1):c.3656C>T (p.Thr1219Met)
|
rs767097288
|
0.00001
|
|
NM_182961.4(SYNE1):c.3740A>G (p.Glu1247Gly)
|
rs908679898
|
0.00001
|
|
NM_182961.4(SYNE1):c.3762A>T (p.Glu1254Asp)
|
rs745616824
|
0.00001
|
|
NM_182961.4(SYNE1):c.386T>C (p.Ile129Thr)
|
rs1029244968
|
0.00001
|
|
NM_182961.4(SYNE1):c.3883C>G (p.Gln1295Glu)
|
rs750865008
|
0.00001
|
|
NM_182961.4(SYNE1):c.3985G>C (p.Glu1329Gln)
|
rs985588823
|
0.00001
|
|
NM_182961.4(SYNE1):c.4093C>T (p.Arg1365Cys)
|
rs770015858
|
0.00001
|
|
NM_182961.4(SYNE1):c.4192A>G (p.Asn1398Asp)
|
rs758427132
|
0.00001
|
|
NM_182961.4(SYNE1):c.41T>A (p.Ile14Asn)
|
rs202235488
|
0.00001
|
|
NM_182961.4(SYNE1):c.436C>G (p.Gln146Glu)
|
rs1302474521
|
0.00001
|
|
NM_182961.4(SYNE1):c.4424C>T (p.Ser1475Leu)
|
rs767883709
|
0.00001
|
|
NM_182961.4(SYNE1):c.4436T>A (p.Met1479Lys)
|
rs1218913029
|
0.00001
|
|
NM_182961.4(SYNE1):c.4439A>G (p.Asp1480Gly)
|
rs1289977041
|
0.00001
|
|
NM_182961.4(SYNE1):c.4517A>C (p.Glu1506Ala)
|
rs577388500
|
0.00001
|
|
NM_182961.4(SYNE1):c.4524G>T (p.Gln1508His)
|
rs1378400021
|
0.00001
|
|
NM_182961.4(SYNE1):c.454G>A (p.Ala152Thr)
|
rs750659947
|
0.00001
|
|
NM_182961.4(SYNE1):c.4597G>A (p.Gly1533Arg)
|
rs573641821
|
0.00001
|
|
NM_182961.4(SYNE1):c.4609C>G (p.Arg1537Gly)
|
rs983431074
|
0.00001
|
|
NM_182961.4(SYNE1):c.4637C>A (p.Thr1546Lys)
|
rs755101379
|
0.00001
|
|
NM_182961.4(SYNE1):c.4844G>C (p.Ser1615Thr)
|
rs775729666
|
0.00001
|
|
NM_182961.4(SYNE1):c.4928C>T (p.Ala1643Val)
|
rs753598584
|
0.00001
|
|
NM_182961.4(SYNE1):c.4943C>T (p.Thr1648Met)
|
rs199797561
|
0.00001
|
|
NM_182961.4(SYNE1):c.5010G>T (p.Trp1670Cys)
|
rs373448917
|
0.00001
|
|
NM_182961.4(SYNE1):c.502A>G (p.Ser168Gly)
|
rs776344465
|
0.00001
|
|
NM_182961.4(SYNE1):c.5032G>A (p.Ala1678Thr)
|
rs1554680800
|
0.00001
|
|
NM_182961.4(SYNE1):c.5056T>C (p.Ser1686Pro)
|
rs1364310674
|
0.00001
|
|
NM_182961.4(SYNE1):c.508C>T (p.Arg170Trp)
|
rs777175001
|
0.00001
|
|
NM_182961.4(SYNE1):c.5108A>G (p.Gln1703Arg)
|
rs200766001
|
0.00001
|
|
NM_182961.4(SYNE1):c.5291T>C (p.Val1764Ala)
|
rs761352115
|
0.00001
|
|
NM_182961.4(SYNE1):c.5390T>C (p.Met1797Thr)
|
rs1481121106
|
0.00001
|
|
NM_182961.4(SYNE1):c.5421+5A>T
|
rs755875029
|
0.00001
|
|
NM_182961.4(SYNE1):c.5515C>T (p.Leu1839Phe)
|
rs746812274
|
0.00001
|
|
NM_182961.4(SYNE1):c.5711T>G (p.Leu1904Trp)
|
rs1179461369
|
0.00001
|
|
NM_182961.4(SYNE1):c.5722G>T (p.Asp1908Tyr)
|
rs369176646
|
0.00001
|
|
NM_182961.4(SYNE1):c.5831A>G (p.Gln1944Arg)
|
rs1483236627
|
0.00001
|
|
NM_182961.4(SYNE1):c.5843G>T (p.Cys1948Phe)
|
rs761812821
|
0.00001
|
|
NM_182961.4(SYNE1):c.586A>G (p.Thr196Ala)
|
rs773890189
|
0.00001
|
|
NM_182961.4(SYNE1):c.5923G>T (p.Ala1975Ser)
|
rs750263410
|
0.00001
|
|
NM_182961.4(SYNE1):c.592A>G (p.Ile198Val)
|
rs746384499
|
0.00001
|
|
NM_182961.4(SYNE1):c.598G>A (p.Val200Ile)
|
rs1467783489
|
0.00001
|
|
NM_182961.4(SYNE1):c.6031C>T (p.Arg2011Cys)
|
rs767563434
|
0.00001
|
|
NM_182961.4(SYNE1):c.6104T>C (p.Leu2035Pro)
|
rs2098103147
|
0.00001
|
|
NM_182961.4(SYNE1):c.6184C>T (p.Arg2062Cys)
|
rs746057788
|
0.00001
|
|
NM_182961.4(SYNE1):c.6407A>G (p.Asn2136Ser)
|
rs754275815
|
0.00001
|
|
NM_182961.4(SYNE1):c.6416A>G (p.Gln2139Arg)
|
rs1014104831
|
0.00001
|
|
NM_182961.4(SYNE1):c.6524T>C (p.Val2175Ala)
|
rs376472102
|
0.00001
|
|
NM_182961.4(SYNE1):c.6646T>C (p.Cys2216Arg)
|
rs1183559257
|
0.00001
|
|
NM_182961.4(SYNE1):c.6723+5A>C
|
rs755302313
|
0.00001
|
|
NM_182961.4(SYNE1):c.6724T>A (p.Ser2242Thr)
|
rs371609288
|
0.00001
|
|
NM_182961.4(SYNE1):c.6883G>A (p.Ala2295Thr)
|
rs758161551
|
0.00001
|
|
NM_182961.4(SYNE1):c.6974A>G (p.Glu2325Gly)
|
rs777595583
|
0.00001
|
|
NM_182961.4(SYNE1):c.6977C>T (p.Ser2326Leu)
|
rs752405422
|
0.00001
|
|
NM_182961.4(SYNE1):c.7102C>T (p.Arg2368Cys)
|
rs780033455
|
0.00001
|
|
NM_182961.4(SYNE1):c.7139G>A (p.Arg2380His)
|
rs554035671
|
0.00001
|
|
NM_182961.4(SYNE1):c.7309G>A (p.Gly2437Ser)
|
rs140948068
|
0.00001
|
|
NM_182961.4(SYNE1):c.7364C>T (p.Ser2455Leu)
|
rs969369417
|
0.00001
|
|
NM_182961.4(SYNE1):c.746A>T (p.Glu249Val)
|
rs750178248
|
0.00001
|
|
NM_182961.4(SYNE1):c.7475C>A (p.Ala2492Asp)
|
rs773876679
|
0.00001
|
|
NM_182961.4(SYNE1):c.7525G>T (p.Ala2509Ser)
|
rs748362030
|
0.00001
|
|
NM_182961.4(SYNE1):c.7537T>G (p.Cys2513Gly)
|
rs1271079717
|
0.00001
|
|
NM_182961.4(SYNE1):c.7603G>A (p.Glu2535Lys)
|
rs764800126
|
0.00001
|
|
NM_182961.4(SYNE1):c.7786C>T (p.Arg2596Cys)
|
rs768574390
|
0.00001
|
|
NM_182961.4(SYNE1):c.781G>A (p.Val261Ile)
|
rs144069436
|
0.00001
|
|
NM_182961.4(SYNE1):c.7850G>A (p.Arg2617Gln)
|
rs769840610
|
0.00001
|
|
NM_182961.4(SYNE1):c.7873G>A (p.Glu2625Lys)
|
rs1186798259
|
0.00001
|
|
NM_182961.4(SYNE1):c.7879G>A (p.Glu2627Lys)
|
rs754203591
|
0.00001
|
|
NM_182961.4(SYNE1):c.7933G>A (p.Asp2645Asn)
|
rs775185806
|
0.00001
|
|
NM_182961.4(SYNE1):c.7987C>T (p.Arg2663Trp)
|
rs770461993
|
0.00001
|
|
NM_182961.4(SYNE1):c.8081G>A (p.Ser2694Asn)
|
rs1241632741
|
0.00001
|
|
NM_182961.4(SYNE1):c.8532G>A (p.Met2844Ile)
|
rs794727764
|
0.00001
|
|
NM_182961.4(SYNE1):c.8593C>T (p.Arg2865Trp)
|
rs757720748
|
0.00001
|
|
NM_182961.4(SYNE1):c.863C>T (p.Ala288Val)
|
rs746752458
|
0.00001
|
|
NM_182961.4(SYNE1):c.8762C>T (p.Thr2921Met)
|
rs371229610
|
0.00001
|
|
NM_182961.4(SYNE1):c.8780G>A (p.Arg2927His)
|
rs148998248
|
0.00001
|
|
NM_182961.4(SYNE1):c.8785G>A (p.Asp2929Asn)
|
rs143313866
|
0.00001
|
|
NM_182961.4(SYNE1):c.8851A>G (p.Met2951Val)
|
rs1202916520
|
0.00001
|
|
NM_182961.4(SYNE1):c.8905C>G (p.Leu2969Val)
|
rs753512972
|
0.00001
|
|
NM_182961.4(SYNE1):c.8918G>A (p.Ser2973Asn)
|
rs766072795
|
0.00001
|
|
NM_182961.4(SYNE1):c.8937G>C (p.Trp2979Cys)
|
rs760074927
|
0.00001
|
|
NM_182961.4(SYNE1):c.9040C>T (p.Pro3014Ser)
|
rs200939886
|
0.00001
|
|
NM_182961.4(SYNE1):c.9046A>G (p.Thr3016Ala)
|
rs2097290792
|
0.00001
|
|
NM_182961.4(SYNE1):c.9169G>A (p.Gly3057Ser)
|
rs766846025
|
0.00001
|
|
NM_182961.4(SYNE1):c.9170G>A (p.Gly3057Asp)
|
rs761071366
|
0.00001
|
|
NM_182961.4(SYNE1):c.9194T>C (p.Leu3065Ser)
|
rs2097283921
|
0.00001
|
|
NM_182961.4(SYNE1):c.9280C>A (p.Pro3094Thr)
|
rs1591443794
|
0.00001
|
|
NM_182961.4(SYNE1):c.9355C>T (p.His3119Tyr)
|
rs373615823
|
0.00001
|
|
NM_182961.4(SYNE1):c.9472C>A (p.His3158Asn)
|
rs1484236534
|
0.00001
|
|
NM_182961.4(SYNE1):c.9507+6T>C
|
rs372138410
|
0.00001
|
|
NM_182961.4(SYNE1):c.9577G>A (p.Glu3193Lys)
|
rs761121679
|
0.00001
|
|
NM_182961.4(SYNE1):c.9584T>C (p.Met3195Thr)
|
rs1398398021
|
0.00001
|
|
NM_182961.4(SYNE1):c.9616C>A (p.Leu3206Met)
|
rs587777426
|
0.00001
|
|
NM_182961.4(SYNE1):c.962A>G (p.Lys321Arg)
|
rs1295360409
|
0.00001
|
|
NM_182961.4(SYNE1):c.9832A>G (p.Ile3278Val)
|
rs774469372
|
0.00001
|
|
NM_182961.4(SYNE1):c.9857C>T (p.Ser3286Phe)
|
rs770774159
|
0.00001
|
|
NM_182961.4(SYNE1):c.9926C>T (p.Pro3309Leu)
|
rs559031643
|
0.00001
|
|
NM_182961.4(SYNE1):c.9941G>A (p.Ser3314Asn)
|
rs1188481121
|
0.00001
|
|
NC_000001.10:g.(?_116243862)_(116287553_?)dup
|
|
|
|
NC_000001.10:g.(?_116243862)_(116311162_?)dup
|
|
|
|
NC_000001.10:g.(?_116260441)_(116311162_?)dup
|
|
|
|
NC_000001.10:g.(?_116275502)_(116280976_?)dup
|
|
|
|
NC_000001.10:g.(?_116310909)_(116947066_?)dup
|
|
|
|
NC_000001.10:g.(?_147230250)_(147231366_?)dup
|
|
|
|
NC_000001.10:g.(?_147230260)_(147245383_?)del
|
|
|
|
NC_000001.10:g.(?_147230260)_(147245383_?)dup
|
|
|
|
NC_000001.10:g.(?_147230270)_(147231346_?)del
|
|
|
|
NC_000001.10:g.(?_147230270)_(147231346_?)dup
|
|
|
|
NC_000001.10:g.(?_155581953)_(155880552_?)del
|
|
|
|
NC_000001.10:g.(?_155870159)_(155880696_?)dup
|
|
|
|
NC_000001.10:g.(?_155870179)_(155880552_?)dup
|
|
|
|
NC_000001.10:g.(?_155874092)_(155880686_?)dup
|
|
|
|
NC_000001.10:g.(?_155877093)_(155880300_?)del
|
|
|
|
NC_000001.10:g.(?_155880221)_(156109650_?)del
|
|
|
|
NC_000001.10:g.(?_201327136)_(201347828_?)dup
|
|
|
|
NC_000001.10:g.(?_201328338)_(201342382_?)dup
|
|
|
|
NC_000001.10:g.(?_201334309)_(201342392_?)del
|
|
|
|
NC_000001.10:g.(?_236848754)_(236928931_?)dup
|
|
|
|
NC_000001.10:g.(?_236849954)_(236899988_?)dup
|
|
|
|
NC_000001.10:g.(?_236849954)_(236925939_?)dup
|
|
|
|
NC_000001.10:g.(?_236849954)_(237205889_?)dup
|
|
|
|
NC_000001.10:g.(?_236849954)_(237551503_?)dup
|
|
|
|
NC_000001.10:g.(?_236849974)_(236850119_?)dup
|
|
|
|
NC_000001.10:g.(?_236849974)_(236925919_?)del
|
|
|
|
NC_000001.10:g.(?_236849974)_(236925919_?)dup
|
|
|
|
NC_000001.10:g.(?_236881138)_(236925919_?)dup
|
|
|
|
NC_000001.10:g.(?_236902582)_(236902852_?)del
|
|
|
|
NC_000001.10:g.(?_236902582)_(237995947_?)del
|
|
|
|
NC_000001.10:g.(?_236906176)_(236925919_?)del
|
|
|
|
NC_000001.10:g.(?_236917227)_(236920952_?)dup
|
|
|
|
NC_000001.10:g.(?_237205812)_(237205879_?)del
|
|
|
|
NC_000001.10:g.(?_237205822)_(237205889_?)dup
|
|
|
|
NC_000001.10:g.(?_237433777)_(237433936_?)dup
|
|
|
|
NC_000001.10:g.(?_237433777)_(237527692_?)dup
|
|
|
|
NC_000001.10:g.(?_237433777)_(237540755_?)dup
|
|
|
|
NC_000001.10:g.(?_237433791)_(237519291_?)dup
|
|
|
|
NC_000001.10:g.(?_237519245)_(237519305_?)del
|
|
|
|
NC_000001.10:g.(?_237519245)_(237586568_?)dup
|
|
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|
NC_000001.10:g.(?_237519255)_(237758967_?)del
|
|
|
|
NC_000001.10:g.(?_237538007)_(237714001_?)dup
|
|
|
|
NC_000001.10:g.(?_237580329)_(237995947_?)dup
|
|
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|
NC_000001.10:g.(?_237711721)_(237982502_?)dup
|
|
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|
NC_000001.10:g.(?_237753073)_(237924348_?)del
|
|
|
|
NC_000001.10:g.(?_237765305)_(237995947_?)dup
|
|
|
|
NC_000001.10:g.(?_237796858)_(237995947_?)dup
|
|
|
|
NC_000001.10:g.(?_237889553)_(237995947_?)dup
|
|
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|
NC_000001.10:g.(?_237893540)_(237995947_?)dup
|
|
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|
NC_000001.10:g.(?_237919568)_(237921096_?)del
|
|
|
|
NC_000001.10:g.(?_237923056)_(237995947_?)del
|
|
|
|
NC_000001.10:g.(?_237941946)_(237995947_?)del
|
|
|
|
NC_000001.10:g.(?_237965136)_(237995947_?)dup
|
|
|
|
NC_000001.10:g.(?_237982316)_(237982512_?)del
|
|
|
|
NC_000001.10:g.(?_2957600)_(3350385_?)dup
|
|
|
|
NC_000001.10:g.(?_2985804)_(2985880_?)dup
|
|
|
|
NC_000001.10:g.(?_2985824)_(3350375_?)dup
|
|
|
|
NC_000001.10:g.(?_3102669)_(3103058_?)dup
|
|
|
|
NC_000001.10:g.(?_3102669)_(3160721_?)dup
|
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|
|
NC_000001.10:g.(?_3102669)_(3301870_?)dup
|
|
|
|
NC_000001.10:g.(?_3102669)_(3350375_?)dup
|
|
|
|
NC_000001.10:g.(?_3102679)_(3160711_?)dup
|
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|
NC_000001.10:g.(?_3160631)_(3160721_?)dup
|
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|
NC_000001.10:g.(?_3301696)_(3301870_?)del
|
|
|
|
NC_000001.10:g.(?_3301696)_(3350375_?)dup
|
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|
NC_000001.10:g.(?_3313045)_(3313167_?)del
|
|
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|
NC_000001.10:g.(?_64059160)_(64059425_?)dup
|
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|
NC_000001.10:g.(?_78381662)_(78408524_?)dup
|
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|
NC_000001.10:g.(?_78398947)_(78401749_?)del
|
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|
NC_000001.10:g.(?_955543)_(3350385_?)del
|
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|
NC_000001.10:g.(?_955553)_(3350375_?)del
|
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|
NC_000001.10:g.(?_989123)_(3160711_?)del
|
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|
NC_000001.11:g.(?_236751450)_(236762639_?)del
|
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|
NC_000001.11:g.(?_237270487)_(237832657_?)del
|
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|
NC_000001.11:g.(?_237270487)_(237832657_?)dup
|
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|
NC_000001.11:g.(?_237441309)_(237454584_?)del
|
|
|
|
NC_000001.11:g.(?_237441309)_(237456745_?)del
|
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|
NC_000001.11:g.(?_237666502)_(237794007_?)del
|
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|
NC_000001.11:g.(?_237756278)_(237832657_?)del
|
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|
NC_000001.11:g.(?_237770797)_(237773658_?)del
|
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|
NC_000001.11:g.(?_3041036)_(3244147_?)dup
|
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|
NC_000001.11:g.(?_3069240)_(3433831_?)del
|
|
|
|
NC_000001.11:g.(?_3186115)_(3186484_?)dup
|
|
|
|
NC_000001.11:g.(?_3186115)_(3244147_?)dup
|
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|
NC_000001.11:g.(?_3385132)_(3433831_?)del
|
|
|
|
NC_000001.11:g.(?_3396481)_(3404896_?)del
|
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|
|
NC_000001.11:g.(?_77933272)_(77936054_?)dup
|
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|
|
NC_000001.11:g.236718900_236718924del
|
rs2102894768
|
|
|
NC_000002.11:g.(?_105977730)_(106002983_?)dup
|
|
|
|
NC_000002.11:g.(?_127806102)_(128432598_?)del
|
|
|
|
NC_000002.11:g.(?_128396836)_(128432618_?)dup
|
|
|
|
NC_000002.11:g.(?_128396846)_(128432608_?)dup
|
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|
NC_000002.11:g.(?_179296824)_(179914668_?)dup
|
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|
|
NC_000002.11:g.(?_179389716)_(179673150_?)dup
|
|
|
|
NC_000002.11:g.(?_179432520)_(179439230_?)del
|
|
|
|
NC_000002.11:g.(?_179460214)_(179487514_?)dup
|
|
|
|
NC_000002.11:g.(?_179480014)_(179501546_?)dup
|
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|
|
NC_000002.11:g.(?_179480024)_(179501536_?)dup
|
|
|
|
NC_000002.11:g.(?_179485819)_(179486745_?)dup
|
|
|
|
NC_000002.11:g.(?_179485829)_(179486735_?)dup
|
|
|
|
NC_000002.11:g.(?_179489182)_(179501536_?)del
|
|
|
|
NC_000002.11:g.(?_179504005)_(179560850_?)del
|
|
|
|
NC_000002.11:g.(?_179505958)_(179515008_?)dup
|
|
|
|
NC_000002.11:g.(?_179505968)_(179514998_?)dup
|
|
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NC_000010.11:g.(?_66775424)_(66775544_?)del
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NC_000010.11:g.(?_67539493)_(67539679_?)del
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NC_000010.11:g.(?_68161709)_(68161772_?)del
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NC_000010.11:g.(?_68161719)_(68161762_?)del
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NC_000010.11:g.(?_73998188)_(73998395_?)del
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NC_000010.11:g.(?_73998198)_(73998385_?)del
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NC_000010.11:g.(?_74114174)_(74118179_?)dup
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NC_000010.11:g.67606900_67606901insAlu
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NC_000011.10:g.(?_111908754)_(111908977_?)del
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NC_000011.10:g.(?_19184942)_(19188314_?)del
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NC_000011.10:g.(?_2883979)_(2885755_?)dup
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NC_000011.10:g.(?_47331843)_(47335219_?)del
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NC_000011.10:g.(?_47331843)_(47338689_?)dup
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NC_000011.10:g.(?_47346187)_(47351525_?)del
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NC_000011.10:g.(?_47346197)_(47351515_?)del
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NC_000011.10:g.(?_532616)_(534342_?)dup
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NC_000011.10:g.(?_532636)_(534322_?)del
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NC_000011.10:g.(?_534206)_(534328_?)dup
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NC_000011.10:g.47349905_47349925dup
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NC_000011.9:g.(?_111779478)_(111782458_?)dup
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NC_000011.9:g.(?_111779478)_(111961866_?)dup
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NC_000011.9:g.(?_18418390)_(19204313_?)del
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NC_000011.9:g.(?_19204217)_(19209871_?)del
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NC_000011.9:g.(?_19207743)_(19213995_?)del
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NC_000011.9:g.(?_47348153)_(47353429_?)del
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NC_000011.9:g.(?_47353394)_(47354894_?)dup
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NC_000011.9:g.(?_47353422)_(47357582_?)dup
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NC_000011.9:g.(?_47353422)_(47359150_?)dup
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NC_000011.9:g.(?_47356583)_(47356770_?)del
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NC_000011.9:g.(?_47360065)_(47360236_?)dup
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NC_000011.9:g.(?_47367738)_(47369476_?)del
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NC_000011.9:g.(?_47371305)_(47374198_?)dup
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NC_000011.9:g.(?_532626)_(534332_?)dup
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NC_000011.9:g.(?_532630)_(532761_?)dup
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NC_000011.9:g.(?_532631)_(532755_?)dup
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NC_000011.9:g.(?_532631)_(534375_?)dup
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NC_000011.9:g.(?_532636)_(533328_?)del
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NC_000011.9:g.(?_532636)_(533622_?)dup
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NC_000011.9:g.(?_532636)_(554276_?)dup
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NC_000011.9:g.(?_533443)_(534322_?)dup
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NC_000012.11:g.(?_111348861)_(111348999_?)del
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NC_000012.11:g.(?_111348881)_(111358333_?)del
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NC_000012.11:g.(?_111348881)_(111358333_?)dup
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NC_000012.11:g.(?_111350880)_(111352114_?)dup
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NC_000012.11:g.(?_111356888)_(111358333_?)del
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NC_000012.11:g.(?_21590665)_(22089608_?)del
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NC_000012.11:g.(?_21590665)_(22089608_?)dup
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NC_000012.11:g.(?_21918657)_(22017431_?)dup
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NC_000012.11:g.(?_21958108)_(22089608_?)dup
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NC_000012.11:g.(?_21971064)_(21971205_?)del
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NC_000012.11:g.(?_22059040)_(22063266_?)del
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NC_000012.11:g.(?_22078856)_(22079017_?)del
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NC_000012.11:g.(?_22089457)_(22089618_?)del
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NC_000012.11:g.(?_32729272)_(33049685_?)dup
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NC_000012.11:g.(?_32729292)_(33049665_?)dup
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NC_000012.11:g.(?_32772622)_(33049675_?)dup
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NC_000012.11:g.(?_32945348)_(33049675_?)dup
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NC_000012.11:g.(?_32945358)_(32945685_?)del
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NC_000012.11:g.(?_32945358)_(32949252_?)dup
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NC_000012.11:g.(?_33021841)_(33049665_?)dup
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NC_000012.11:g.(?_33021841)_(33049685_?)dup
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NC_000012.11:g.(?_33049423)_(33049665_?)dup
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NC_000012.12:g.(?_21805164)_(21864487_?)dup
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NC_000012.12:g.(?_21805164)_(21936684_?)dup
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NC_000012.12:g.(?_21933772)_(21933933_?)del
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NC_000012.12:g.(?_32792414)_(32796308_?)dup
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NC_000012.12:g.32896640_32896911del
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NC_000013.10:g.(?_23667335)_(23778038_?)dup
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NC_000013.10:g.(?_23667335)_(23869646_?)dup
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NC_000013.10:g.(?_23667335)_(23894909_?)dup
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NC_000013.10:g.(?_23667335)_(23985388_?)dup
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NC_000013.10:g.(?_23777834)_(23985378_?)dup
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NC_000013.10:g.(?_23894756)_(23985378_?)dup
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NC_000014.8:g.(?_23851249)_(23902941_?)dup
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NC_000014.8:g.(?_23855504)_(23885061_?)del
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NC_000014.8:g.(?_23856728)_(23885531_?)dup
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NC_000014.8:g.(?_23856957)_(23886537_?)del
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NC_000014.8:g.(?_23857344)_(23886547_?)del
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NC_000014.8:g.(?_23857696)_(23858733_?)del
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NC_000014.8:g.(?_23859246)_(23888838_?)dup
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NC_000014.8:g.(?_23859246)_(23889463_?)dup
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NC_000014.8:g.(?_23861751)_(23888838_?)del
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NC_000014.8:g.(?_23861751)_(23889463_?)del
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NC_000014.8:g.(?_23861751)_(23889463_?)dup
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NC_000014.8:g.(?_23861761)_(23889453_?)del
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NC_000014.8:g.(?_23863431)_(23894131_?)del
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NC_000014.8:g.(?_23874427)_(23901842_?)del
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NC_000014.8:g.(?_23882053)_(23882090_?)del
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NC_000014.8:g.(?_23882063)_(23882100_?)del
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NC_000014.8:g.(?_23882063)_(23885531_?)dup
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NC_000014.8:g.(?_23882948)_(23883331_?)del
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NC_000014.8:g.(?_23885193)_(23902941_?)dup
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NC_000014.8:g.(?_23885203)_(23885531_?)dup
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NC_000014.8:g.(?_23897689)_(23899142_?)del
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NC_000014.8:g.(?_23898144)_(23899892_?)del
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NC_000014.8:g.(?_50585062)_(50585591_?)del
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NC_000014.8:g.(?_50641152)_(50778868_?)dup
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NC_000014.8:g.(?_50655195)_(50655438_?)dup
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NC_000014.8:g.(?_64375867)_(64375965_?)del
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NC_000014.8:g.(?_64443261)_(64444755_?)del
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NC_000014.8:g.(?_64458032)_(64460645_?)del
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NC_000014.8:g.(?_64481620)_(64489461_?)del
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NC_000014.8:g.(?_64484293)_(64484494_?)del
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NC_000014.8:g.(?_64568640)_(64568770_?)del
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NC_000014.8:g.(?_64587625)_(64587799_?)del
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NC_000014.9:g.(?_23382030)_(23434247_?)dup
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NC_000014.9:g.(?_23387519)_(23415842_?)dup
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NC_000014.9:g.(?_23388145)_(23417328_?)del
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NC_000014.9:g.(?_23390047)_(23420244_?)dup
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NC_000014.9:g.(?_23392552)_(23419619_?)del
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NC_000014.9:g.(?_23392552)_(23419619_?)dup
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NC_000014.9:g.(?_23396684)_(23397623_?)del
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NC_000014.9:g.(?_23412834)_(23412891_?)del
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NC_000014.9:g.(?_23412854)_(23420244_?)dup
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NC_000014.9:g.(?_50188487)_(50204419_?)dup
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NC_000015.10:g.(?_34788628)_(34794818_?)dup
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NC_000015.10:g.(?_63041639)_(63067093_?)dup
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NC_000015.10:g.(?_63042820)_(63869153_?)dup
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NC_000015.9:g.(?_34526082)_(35087009_?)del
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NC_000015.9:g.(?_35080829)_(35087019_?)del
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NC_000015.9:g.(?_35082593)_(35087029_?)dup
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NC_000015.9:g.(?_38545387)_(38591768_?)dup
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NC_000015.9:g.(?_38545387)_(38617020_?)dup
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NC_000015.9:g.(?_38591554)_(38643865_?)dup
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NC_000015.9:g.(?_63333838)_(63359292_?)del
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NC_000015.9:g.(?_63335029)_(63358098_?)del
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NC_000015.9:g.(?_63351742)_(63356266_?)del
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NC_000015.9:g.(?_76508900)_(76518290_?)del
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NC_000015.9:g.(?_76508900)_(76603729_?)dup
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NC_000015.9:g.(?_76518170)_(76518290_?)del
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NC_000015.9:g.(?_76523654)_(76523759_?)del
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NC_000015.9:g.(?_76603671)_(76603729_?)dup
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NC_000017.10:g.(?_37821603)_(37822372_?)dup
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NC_000017.10:g.(?_37821613)_(38458253_?)dup
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NC_000017.10:g.(?_39911986)_(39928116_?)dup
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NC_000017.10:g.(?_48243402)_(48278874_?)dup
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NC_000017.10:g.(?_48252608)_(48253303_?)del
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NC_000017.10:g.(?_6328780)_(7606804_?)dup
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NC_000017.10:g.(?_78078341)_(78093140_?)dup
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NC_000017.10:g.(?_78078341)_(78093150_?)dup
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NC_000017.10:g.(?_78090747)_(78110154_?)dup
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NC_000017.10:g.(?_78090757)_(78093140_?)dup
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NC_000018.10:g.(?_3067252)_(3094316_?)del
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NC_000018.10:g.(?_3067252)_(3215233_?)dup
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NC_000018.10:g.(?_31498242)_(31598685_?)dup
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NC_000018.10:g.(?_31591160)_(31598685_?)dup
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NC_000018.9:g.(?_2656065)_(3215231_?)dup
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NC_000018.9:g.(?_2656075)_(3215221_?)dup
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NC_000018.9:g.(?_2656075)_(3457938_?)del
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NC_000018.9:g.(?_28647961)_(28681954_?)dup
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NC_000018.9:g.(?_28647971)_(28673616_?)dup
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NC_000018.9:g.(?_28647971)_(29178648_?)dup
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NC_000018.9:g.(?_28647981)_(28681934_?)dup
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NC_000018.9:g.(?_29078215)_(29178638_?)dup
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NC_000018.9:g.(?_29098182)_(29178638_?)dup
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NC_000018.9:g.(?_29118704)_(29126716_?)dup
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NC_000018.9:g.(?_29122463)_(29122835_?)del
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NC_000018.9:g.(?_3067250)_(3079350_?)dup
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NC_000018.9:g.(?_3067260)_(3215221_?)del
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NC_000018.9:g.(?_3075432)_(3075779_?)del
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NC_000018.9:g.(?_3090636)_(3090820_?)del
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NC_000018.9:g.(?_3100137)_(3100221_?)del
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NC_000018.9:g.(?_3112276)_(3116533_?)del
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NC_000018.9:g.(?_3114702)_(3119951_?)del
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NC_000018.9:g.(?_3168795)_(3174226_?)del
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NC_000018.9:g.(?_3168809)_(3168985_?)dup
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NC_000018.9:g.(?_3168815)_(3168979_?)dup
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NC_000018.9:g.(?_3214912)_(3215221_?)del
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NC_000018.9:g.(?_32335941)_(32464709_?)dup
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NC_000018.9:g.(?_32391903)_(32464709_?)dup
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NC_000019.10:g.(?_16482440)_(16496139_?)dup
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NC_000019.10:g.(?_55140873)_(55151927_?)del
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NC_000019.10:g.(?_55151814)_(55154850_?)del
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NC_000019.10:g.(?_55151824)_(55154840_?)del
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NC_000019.10:g.(?_55151824)_(55157641_?)dup
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NC_000019.10:g.(?_55154020)_(55156654_?)del
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NC_000019.9:g.(?_16593241)_(16606940_?)dup
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NC_000019.9:g.(?_16593241)_(16606960_?)dup
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NC_000019.9:g.(?_16593553)_(16606960_?)dup
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NC_000019.9:g.(?_16595954)_(16601401_?)dup
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NC_000019.9:g.(?_16601158)_(16601401_?)dup
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NC_000019.9:g.(?_16606542)_(16606940_?)del
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NC_000019.9:g.(?_51848465)_(51856564_?)dup
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NC_000019.9:g.(?_55644273)_(55768277_?)dup
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NC_000019.9:g.(?_55663202)_(55666218_?)del
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NC_000019.9:g.(?_55663202)_(55666218_?)dup
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NC_000019.9:g.(?_55663202)_(55668957_?)dup
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NC_000019.9:g.(?_55663207)_(55664624_?)del
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NC_000019.9:g.(?_55667549)_(55668957_?)del
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NC_000019.9:g.(?_55667549)_(55668957_?)dup
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NC_000020.10:g.(?_42743436)_(42815345_?)dup
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NC_000020.10:g.(?_42788248)_(42815355_?)del
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NC_000020.10:g.(?_42814947)_(42815345_?)dup
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NC_000020.11:g.(?_44114776)_(44186725_?)del
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NC_000020.11:g.(?_44186317)_(44186715_?)dup
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NC_000022.10:g.(?_19743473)_(19929346_?)dup
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NC_000022.10:g.(?_19862041)_(19930515_?)dup
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NC_000022.10:g.(?_19864618)_(19929336_?)dup
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NC_000022.10:g.(?_19864628)_(19883124_?)del
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NC_000022.10:g.(?_19918553)_(19969614_?)del
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NC_000022.10:g.(?_19929214)_(19929336_?)dup
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NC_000022.10:g.(?_37154355)_(39148633_?)del
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NC_000022.11:g.(?_19877095)_(19941813_?)del
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NC_000022.11:g.(?_19911357)_(19911467_?)del
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NC_000022.11:g.(?_19911367)_(19911457_?)del
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NC_000022.11:g.(?_19931010)_(19941823_?)del
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NC_000023.10:g.(?_135288556)_(135293528_?)dup
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NC_000023.10:g.(?_135288592)_(135292184_?)dup
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NC_000023.10:g.(?_135289169)_(135292189_?)dup
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NC_000023.10:g.(?_152990712)_(153650075_?)dup
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NC_000023.10:g.(?_153128108)_(153609567_?)dup
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NC_000023.10:g.(?_153357622)_(153664237_?)dup
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NC_000023.10:g.(?_153577211)_(153640295_?)dup
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NC_000023.10:g.(?_153577217)_(153609557_?)dup
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NC_000023.10:g.(?_153587342)_(153609567_?)dup
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NC_000023.10:g.(?_153607835)_(153609567_?)dup
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NC_000023.10:g.(?_153640161)_(153649363_?)dup
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NC_000023.10:g.(?_153640181)_(153775961_?)dup
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NC_000023.10:g.(?_153641545)_(153648084_?)dup
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NC_000023.10:g.(?_153647862)_(153649343_?)dup
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NC_000023.11:g.(?_136209233)_(136211369_?)del
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NC_000023.11:g.(?_30304559)_(30309383_?)dup
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NC_000024.10:g.2787734C>T
|
rs2124486449
|
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NC_000024.9:g.(?_2654792)_(2655895_?)dup
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NM_000018.4(ACADVL):c.1004A>G (p.His335Arg)
|
rs2142980423
|
|
|
NM_000018.4(ACADVL):c.1007T>A (p.Ile336Asn)
|
rs1431769044
|
|
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NM_000018.4(ACADVL):c.1009C>T (p.Leu337Phe)
|
rs1567565656
|
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NM_000018.4(ACADVL):c.1009_1011del (p.Leu337del)
|
rs1315330884
|
|
|
NM_000018.4(ACADVL):c.1015A>T (p.Asn339Tyr)
|
rs2071293900
|
|
|
NM_000018.4(ACADVL):c.1019G>A (p.Gly340Glu)
|
rs934797393
|
|
|
NM_000018.4(ACADVL):c.1019G>T (p.Gly340Val)
|
rs934797393
|
|
|
NM_000018.4(ACADVL):c.1031T>G (p.Met344Arg)
|
rs2142980587
|
|
|
NM_000018.4(ACADVL):c.1037C>A (p.Ala346Glu)
|
|
|
|
NM_000018.4(ACADVL):c.1037C>G (p.Ala346Gly)
|
|
|
|
NM_000018.4(ACADVL):c.1043T>C (p.Leu348Pro)
|
|
|
|
NM_000018.4(ACADVL):c.1045G>C (p.Ala349Pro)
|
rs1567565733
|
|
|
NM_000018.4(ACADVL):c.1048G>A (p.Gly350Ser)
|
rs767138639
|
|
|
NM_000018.4(ACADVL):c.1049G>A (p.Gly350Asp)
|
|
|
|
NM_000018.4(ACADVL):c.1049G>C (p.Gly350Ala)
|
rs1343647718
|
|
|
NM_000018.4(ACADVL):c.1058G>A (p.Arg353Lys)
|
|
|
|
NM_000018.4(ACADVL):c.1063_1064delinsGG (p.Ile355Gly)
|
|
|
|
NM_000018.4(ACADVL):c.1077+3_1077+6del
|
rs2071298305
|
|
|
NM_000018.4(ACADVL):c.1077+5G>A
|
|
|
|
NM_000018.4(ACADVL):c.1078-5T>G
|
rs1266629718
|
|
|
NM_000018.4(ACADVL):c.107C>T (p.Ala36Val)
|
rs1165915680
|
|
|
NM_000018.4(ACADVL):c.1082A>G (p.Asp361Gly)
|
rs1214845060
|
|
|
NM_000018.4(ACADVL):c.1093A>G (p.Asn365Asp)
|
rs988045058
|
|
|
NM_000018.4(ACADVL):c.1106T>C (p.Phe369Ser)
|
rs398123080
|
|
|
NM_000018.4(ACADVL):c.110G>A (p.Arg37Gln)
|
|
|
|
NM_000018.4(ACADVL):c.1111G>A (p.Glu371Lys)
|
|
|
|
NM_000018.4(ACADVL):c.1128T>G (p.Phe376Leu)
|
|
|
|
NM_000018.4(ACADVL):c.1147C>A (p.Leu383Met)
|
|
|
|
NM_000018.4(ACADVL):c.1147C>G (p.Leu383Val)
|
rs756194870
|
|
|
NM_000018.4(ACADVL):c.1158G>A (p.Met386Ile)
|
rs2142982416
|
|
|
NM_000018.4(ACADVL):c.1159G>C (p.Val387Leu)
|
rs1422904205
|
|
|
NM_000018.4(ACADVL):c.1162A>T (p.Met388Leu)
|
|
|
|
NM_000018.4(ACADVL):c.1170G>C (p.Gln390His)
|
rs775196157
|
|
|
NM_000018.4(ACADVL):c.1174G>A (p.Val392Ile)
|
|
|
|
NM_000018.4(ACADVL):c.1182+2dup
|
rs1597532215
|
|
|
NM_000018.4(ACADVL):c.1182+3G>A
|
rs376281637
|
|
|
NM_000018.4(ACADVL):c.1182+5G>A
|
|
|
|
NM_000018.4(ACADVL):c.1183-7A>G
|
rs750441118
|
|
|
NM_000018.4(ACADVL):c.1185C>G (p.Ser395=)
|
|
|
|
NM_000018.4(ACADVL):c.1192_1206dup (p.Tyr398_Ala402dup)
|
rs2142984192
|
|
|
NM_000018.4(ACADVL):c.119A>G (p.Tyr40Cys)
|
|
|
|
NM_000018.4(ACADVL):c.11C>A (p.Ala4Asp)
|
rs1019684161
|
|
|
NM_000018.4(ACADVL):c.1205C>T (p.Ala402Val)
|
rs727503793
|
|
|
NM_000018.4(ACADVL):c.1233C>G (p.Phe411Leu)
|
|
|
|
NM_000018.4(ACADVL):c.1240G>A (p.Glu414Lys)
|
|
|
|
NM_000018.4(ACADVL):c.1250T>G (p.Ile417Ser)
|
rs2071340219
|
|
|
NM_000018.4(ACADVL):c.1251C>T (p.Ile417=)
|
|
|
|
NM_000018.4(ACADVL):c.1268C>T (p.Ser423Leu)
|
rs1451455641
|
|
|
NM_000018.4(ACADVL):c.127G>A (p.Gly43Ser)
|
|
|
|
NM_000018.4(ACADVL):c.1291G>C (p.Asp431His)
|
rs781658827
|
|
|
NM_000018.4(ACADVL):c.1332+5A>G
|
|
|
|
NM_000018.4(ACADVL):c.1333-3T>G
|
rs1057523216
|
|
|
NM_000018.4(ACADVL):c.1340G>A (p.Gly447Glu)
|
rs1555528779
|
|
|
NM_000018.4(ACADVL):c.1342G>A (p.Val448Ile)
|
rs2071353533
|
|
|
NM_000018.4(ACADVL):c.1342G>C (p.Val448Leu)
|
|
|
|
NM_000018.4(ACADVL):c.1370T>C (p.Ile457Thr)
|
rs1392710608
|
|
|
NM_000018.4(ACADVL):c.138+2dup
|
rs1555527548
|
|
|
NM_000018.4(ACADVL):c.138+5G>A
|
rs2071124642
|
|
|
NM_000018.4(ACADVL):c.1382T>C (p.Phe461Ser)
|
rs755432945
|
|
|
NM_000018.4(ACADVL):c.139-3C>T
|
rs1555527630
|
|
|
NM_000018.4(ACADVL):c.1391C>T (p.Thr464Ile)
|
rs1555528796
|
|
|
NM_000018.4(ACADVL):c.13C>G (p.Arg5Gly)
|
rs747672165
|
|
|
NM_000018.4(ACADVL):c.1400T>A (p.Ile467Asn)
|
rs2142986109
|
|
|
NM_000018.4(ACADVL):c.1427G>A (p.Gly476Asp)
|
rs2071357482
|
|
|
NM_000018.4(ACADVL):c.142G>A (p.Ala48Thr)
|
|
|
|
NM_000018.4(ACADVL):c.1434+14T>C
|
rs202217537
|
|
|
NM_000018.4(ACADVL):c.1435-3T>A
|
|
|
|
NM_000018.4(ACADVL):c.1435G>A (p.Asp479Asn)
|
rs2071362937
|
|
|
NM_000018.4(ACADVL):c.143C>T (p.Ala48Val)
|
rs2142963990
|
|
|
NM_000018.4(ACADVL):c.1445A>G (p.Lys482Arg)
|
rs2142986762
|
|
|
NM_000018.4(ACADVL):c.1457G>T (p.Gly486Val)
|
|
|
|
NM_000018.4(ACADVL):c.1467T>G (p.Ser489Arg)
|
rs771117714
|
|
|
NM_000018.4(ACADVL):c.1486G>A (p.Gly496Arg)
|
|
|
|
NM_000018.4(ACADVL):c.1496G>C (p.Gly499Ala)
|
rs764943140
|
|
|
NM_000018.4(ACADVL):c.1496G>T (p.Gly499Val)
|
rs764943140
|
|
|
NM_000018.4(ACADVL):c.1508G>C (p.Gly503Ala)
|
rs2142987050
|
|
|
NM_000018.4(ACADVL):c.1510G>A (p.Glu504Lys)
|
|
|
|
NM_000018.4(ACADVL):c.1510G>C (p.Glu504Gln)
|
rs376795010
|
|
|
NM_000018.4(ACADVL):c.1532+6C>T
|
rs2071368248
|
|
|
NM_000018.4(ACADVL):c.1533G>A (p.Arg511=)
|
rs886038214
|
|
|
NM_000018.4(ACADVL):c.1552G>C (p.Gly518Arg)
|
|
|
|
NM_000018.4(ACADVL):c.1605+5_1605+6inv
|
|
|
|
NM_000018.4(ACADVL):c.1605+6_1605+7delinsCC
|
rs1064795676
|
|
|
NM_000018.4(ACADVL):c.1605+6_1605+7inv
|
|
|
|
NM_000018.4(ACADVL):c.1616C>T (p.Ala539Val)
|
|
|
|
NM_000018.4(ACADVL):c.161C>T (p.Ser54Phe)
|
|
|
|
NM_000018.4(ACADVL):c.1630G>A (p.Ala544Thr)
|
|
|
|
NM_000018.4(ACADVL):c.1643A>T (p.Glu548Val)
|
rs2071384243
|
|
|
NM_000018.4(ACADVL):c.1657A>C (p.Lys553Gln)
|
rs1555528957
|
|
|
NM_000018.4(ACADVL):c.1673T>C (p.Ile558Thr)
|
rs1256129137
|
|
|
NM_000018.4(ACADVL):c.167C>A (p.Pro56His)
|
rs2142964131
|
|
|
NM_000018.4(ACADVL):c.1698G>A (p.Gln566=)
|
|
|
|
NM_000018.4(ACADVL):c.1699C>T (p.Arg567Trp)
|
rs864321651
|
|
|
NM_000018.4(ACADVL):c.1701_1702delinsAG (p.Leu568Val)
|
rs2142989836
|
|
|
NM_000018.4(ACADVL):c.1710C>A (p.Asp570Glu)
|
rs759638134
|
|
|
NM_000018.4(ACADVL):c.1719C>G (p.Ile573Met)
|
|
|
|
NM_000018.4(ACADVL):c.1720G>A (p.Asp574Asn)
|
|
|
|
NM_000018.4(ACADVL):c.1732A>G (p.Met578Val)
|
|
|
|
NM_000018.4(ACADVL):c.1745T>C (p.Leu582Pro)
|
rs2142990030
|
|
|
NM_000018.4(ACADVL):c.1751+14C>T
|
|
|
|
NM_000018.4(ACADVL):c.1754C>A (p.Ala585Asp)
|
rs374729641
|
|
|
NM_000018.4(ACADVL):c.1760G>A (p.Arg587Lys)
|
|
|
|
NM_000018.4(ACADVL):c.1762T>C (p.Ser588Pro)
|
rs780655964
|
|
|
NM_000018.4(ACADVL):c.1766T>C (p.Leu589Pro)
|
rs1567569494
|
|
|
NM_000018.4(ACADVL):c.1769G>A (p.Ser590Asn)
|
|
|
|
NM_000018.4(ACADVL):c.1769G>T (p.Ser590Ile)
|
|
|
|
NM_000018.4(ACADVL):c.1777C>T (p.His593Tyr)
|
|
|
|
NM_000018.4(ACADVL):c.1784C>G (p.Thr595Arg)
|
|
|
|
NM_000018.4(ACADVL):c.1784C>T (p.Thr595Met)
|
|
|
|
NM_000018.4(ACADVL):c.17T>C (p.Met6Thr)
|
|
|
|
NM_000018.4(ACADVL):c.1814C>G (p.Thr605Ser)
|
|
|
|
NM_000018.4(ACADVL):c.1825G>C (p.Glu609Gln)
|
rs398123086
|
|
|
NM_000018.4(ACADVL):c.1826A>C (p.Glu609Ala)
|
rs908625615
|
|
|
NM_000018.4(ACADVL):c.1832C>T (p.Ala611Val)
|
rs2071408325
|
|
|
NM_000018.4(ACADVL):c.1835C>G (p.Ala612Gly)
|
rs374898424
|
|
|
NM_000018.4(ACADVL):c.1835C>T (p.Ala612Val)
|
|
|
|
NM_000018.4(ACADVL):c.1842C>G (p.Ile614Met)
|
|
|
|
NM_000018.4(ACADVL):c.1848G>C (p.Glu616Asp)
|
rs372886650
|
|
|
NM_000018.4(ACADVL):c.1855G>A (p.Ala619Thr)
|
|
|
|
NM_000018.4(ACADVL):c.1865A>G (p.Gln622Arg)
|
|
|
|
NM_000018.4(ACADVL):c.1870G>C (p.Asp624His)
|
rs1597541044
|
|
|
NM_000018.4(ACADVL):c.1873C>A (p.Pro625Thr)
|
|
|
|
NM_000018.4(ACADVL):c.1873C>T (p.Pro625Ser)
|
rs377044444
|
|
|
NM_000018.4(ACADVL):c.1881G>C (p.Gln627His)
|
rs931018661
|
|
|
NM_000018.4(ACADVL):c.188A>G (p.Lys63Arg)
|
|
|
|
NM_000018.4(ACADVL):c.1895G>A (p.Arg632His)
|
|
|
|
NM_000018.4(ACADVL):c.18G>A (p.Met6Ile)
|
|
|
|
NM_000018.4(ACADVL):c.1901T>G (p.Phe634Cys)
|
rs2071412683
|
|
|
NM_000018.4(ACADVL):c.1930C>T (p.Arg644Trp)
|
|
|
|
NM_000018.4(ACADVL):c.1931G>C (p.Arg644Pro)
|
rs774762384
|
|
|
NM_000018.4(ACADVL):c.193C>T (p.Pro65Ser)
|
|
|
|
NM_000018.4(ACADVL):c.1953C>A (p.Asn651Lys)
|
rs1417091241
|
|
|
NM_000018.4(ACADVL):c.1955C>T (p.Pro652Leu)
|
|
|
|
NM_000018.4(ACADVL):c.1958T>C (p.Leu653Pro)
|
|
|
|
NM_000018.4(ACADVL):c.1967G>C (p.Ter656Ser)
|
rs2071416769
|
|
|
NM_000018.4(ACADVL):c.196G>A (p.Ala66Thr)
|
rs142745084
|
|
|
NM_000018.4(ACADVL):c.197C>G (p.Ala66Gly)
|
rs2071149098
|
|
|
NM_000018.4(ACADVL):c.204G>A (p.Ala68=)
|
rs756969179
|
|
|
NM_000018.4(ACADVL):c.20C>A (p.Ala7Asp)
|
rs2142959240
|
|
|
NM_000018.4(ACADVL):c.221C>T (p.Ala74Val)
|
rs1470149388
|
|
|
NM_000018.4(ACADVL):c.233T>A (p.Phe78Tyr)
|
|
|
|
NM_000018.4(ACADVL):c.234C>G (p.Phe78Leu)
|
rs2142965570
|
|
|
NM_000018.4(ACADVL):c.236A>G (p.Lys79Arg)
|
rs2071157517
|
|
|
NM_000018.4(ACADVL):c.244C>A (p.Leu82Ile)
|
|
|
|
NM_000018.4(ACADVL):c.247A>G (p.Thr83Ala)
|
rs1339560413
|
|
|
NM_000018.4(ACADVL):c.250A>G (p.Thr84Ala)
|
|
|
|
NM_000018.4(ACADVL):c.257A>G (p.Gln86Arg)
|
|
|
|
NM_000018.4(ACADVL):c.260T>G (p.Val87Gly)
|
rs796051907
|
|
|
NM_000018.4(ACADVL):c.26G>C (p.Ser9Thr)
|
|
|
|
NM_000018.4(ACADVL):c.272C>T (p.Pro91Leu)
|
|
|
|
NM_000018.4(ACADVL):c.277+5G>A
|
rs2071160721
|
|
|
NM_000018.4(ACADVL):c.277G>A (p.Val93Met)
|
|
|
|
NM_000018.4(ACADVL):c.277G>C (p.Val93Leu)
|
|
|
|
NM_000018.4(ACADVL):c.277G>T (p.Val93Leu)
|
rs768632138
|
|
|
NM_000018.4(ACADVL):c.285C>A (p.Asn95Lys)
|
|
|
|
NM_000018.4(ACADVL):c.289G>A (p.Glu97Lys)
|
|
|
|
NM_000018.4(ACADVL):c.294G>C (p.Gln98His)
|
rs794727695
|
|
|
NM_000018.4(ACADVL):c.299A>G (p.Gln100Arg)
|
rs774141572
|
|
|
NM_000018.4(ACADVL):c.325G>A (p.Val109Met)
|
rs754207297
|
|
|
NM_000018.4(ACADVL):c.329C>A (p.Ser110Tyr)
|
rs757608507
|
|
|
NM_000018.4(ACADVL):c.329C>T (p.Ser110Phe)
|
rs757608507
|
|
|
NM_000018.4(ACADVL):c.342+4A>C
|
|
|
|
NM_000018.4(ACADVL):c.346G>A (p.Val116Met)
|
|
|
|
NM_000018.4(ACADVL):c.369C>A (p.Asp123Glu)
|
rs374524648
|
|
|
NM_000018.4(ACADVL):c.370G>A (p.Ala124Thr)
|
rs560912181
|
|
|
NM_000018.4(ACADVL):c.370G>T (p.Ala124Ser)
|
rs560912181
|
|
|
NM_000018.4(ACADVL):c.390G>C (p.Glu130Asp)
|
|
|
|
NM_000018.4(ACADVL):c.398G>C (p.Trp133Ser)
|
|
|
|
NM_000018.4(ACADVL):c.403G>T (p.Gly135Cys)
|
|
|
|
NM_000018.4(ACADVL):c.40C>G (p.Leu14Val)
|
|
|
|
NM_000018.4(ACADVL):c.434A>C (p.Gln145Pro)
|
|
|
|
NM_000018.4(ACADVL):c.435A>G (p.Gln145=)
|
|
|
|
NM_000018.4(ACADVL):c.439C>T (p.Pro147Ser)
|
rs1032857886
|
|
|
NM_000018.4(ACADVL):c.442A>T (p.Ser148Cys)
|
rs892944229
|
|
|
NM_000018.4(ACADVL):c.443G>C (p.Ser148Thr)
|
|
|
|
NM_000018.4(ACADVL):c.461G>A (p.Gly154Asp)
|
|
|
|
NM_000018.4(ACADVL):c.475C>G (p.Gln159Glu)
|
rs779650201
|
|
|
NM_000018.4(ACADVL):c.491T>C (p.Val164Ala)
|
rs2071225938
|
|
|
NM_000018.4(ACADVL):c.495G>T (p.Glu165Asp)
|
rs370169077
|
|
|
NM_000018.4(ACADVL):c.503G>C (p.Gly168Ala)
|
|
|
|
NM_000018.4(ACADVL):c.506T>C (p.Met169Thr)
|
rs1382262076
|
|
|
NM_000018.4(ACADVL):c.506T>G (p.Met169Arg)
|
rs1382262076
|
|
|
NM_000018.4(ACADVL):c.509A>G (p.His170Arg)
|
|
|
|
NM_000018.4(ACADVL):c.517G>C (p.Gly173Arg)
|
rs2071227774
|
|
|
NM_000018.4(ACADVL):c.526A>C (p.Ile176Leu)
|
rs1300720825
|
|
|
NM_000018.4(ACADVL):c.533T>C (p.Leu178Pro)
|
rs1131691808
|
|
|
NM_000018.4(ACADVL):c.535G>A (p.Gly179Arg)
|
rs796051909
|
|
|
NM_000018.4(ACADVL):c.542A>G (p.His181Arg)
|
rs1425862331
|
|
|
NM_000018.4(ACADVL):c.56G>T (p.Gly19Val)
|
|
|
|
NM_000018.4(ACADVL):c.578G>A (p.Gly193Asp)
|
rs1220348903
|
|
|
NM_000018.4(ACADVL):c.57C>G (p.Gly19=)
|
|
|
|
NM_000018.4(ACADVL):c.586G>C (p.Ala196Pro)
|
|
|
|
NM_000018.4(ACADVL):c.591G>C (p.Gln197His)
|
rs2071233301
|
|
|
NM_000018.4(ACADVL):c.592A>G (p.Lys198Glu)
|
rs2071233392
|
|
|
NM_000018.4(ACADVL):c.59G>A (p.Gly20Glu)
|
|
|
|
NM_000018.4(ACADVL):c.608C>T (p.Pro203Leu)
|
|
|
|
NM_000018.4(ACADVL):c.612G>C (p.Lys204Asn)
|
|
|
|
NM_000018.4(ACADVL):c.623-4A>G
|
rs977348928
|
|
|
NM_000018.4(ACADVL):c.625G>C (p.Glu209Gln)
|
rs772055899
|
|
|
NM_000018.4(ACADVL):c.632T>C (p.Val211Ala)
|
|
|
|
NM_000018.4(ACADVL):c.640T>G (p.Phe214Val)
|
rs1192969297
|
|
|
NM_000018.4(ACADVL):c.644G>A (p.Cys215Tyr)
|
|
|
|
NM_000018.4(ACADVL):c.644G>C (p.Cys215Ser)
|
|
|
|
NM_000018.4(ACADVL):c.644G>T (p.Cys215Phe)
|
|
|
|
NM_000018.4(ACADVL):c.64T>C (p.Ser22Pro)
|
|
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|
NM_000018.4(ACADVL):c.651C>A (p.Thr217=)
|
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|
|
NM_000018.4(ACADVL):c.65C>G (p.Ser22Trp)
|
rs727503788
|
|
|
NM_000018.4(ACADVL):c.65C>T (p.Ser22Leu)
|
|
|
|
NM_000018.4(ACADVL):c.682A>G (p.Ile228Val)
|
rs2071254536
|
|
|
NM_000018.4(ACADVL):c.682A>T (p.Ile228Phe)
|
rs2071254536
|
|
|
NM_000018.4(ACADVL):c.685C>G (p.Arg229Gly)
|
rs786204536
|
|
|
NM_000018.4(ACADVL):c.68G>T (p.Arg23Leu)
|
rs34153370
|
|
|
NM_000018.4(ACADVL):c.697G>A (p.Val233Met)
|
|
|
|
NM_000018.4(ACADVL):c.722A>G (p.Tyr241Cys)
|
rs575789958
|
|
|
NM_000018.4(ACADVL):c.734G>A (p.Gly245Glu)
|
rs762631117
|
|
|
NM_000018.4(ACADVL):c.736A>G (p.Ser246Gly)
|
rs1555528320
|
|
|
NM_000018.4(ACADVL):c.748A>G (p.Ile250Val)
|
|
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|
NM_000018.4(ACADVL):c.752+6C>G
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|
NM_000018.4(ACADVL):c.752+6C>T
|
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|
NM_000018.4(ACADVL):c.753-5del
|
rs2071263119
|
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|
NM_000018.4(ACADVL):c.753-6C>T
|
|
|
|
NM_000018.4(ACADVL):c.757G>A (p.Gly253Arg)
|
rs1555528345
|
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|
NM_000018.4(ACADVL):c.769G>A (p.Asp257Asn)
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|
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|
NM_000018.4(ACADVL):c.770A>G (p.Asp257Gly)
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|
NM_000018.4(ACADVL):c.785T>C (p.Phe262Ser)
|
rs1597528061
|
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|
NM_000018.4(ACADVL):c.786T>G (p.Phe262Leu)
|
rs777747704
|
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|
NM_000018.4(ACADVL):c.79C>T (p.Leu27Phe)
|
rs1597516267
|
|
|
NM_000018.4(ACADVL):c.803C>T (p.Thr268Ile)
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|
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|
NM_000018.4(ACADVL):c.809C>G (p.Pro270Arg)
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|
NM_000018.4(ACADVL):c.811G>A (p.Ala271Thr)
|
rs2142977919
|
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NM_000018.4(ACADVL):c.821C>T (p.Ala274Val)
|
|
|
|
NM_000018.4(ACADVL):c.826A>G (p.Lys276Glu)
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|
NM_000018.4(ACADVL):c.833A>T (p.Lys278Met)
|
|
|
|
NM_000018.4(ACADVL):c.841G>C (p.Ala281Pro)
|
rs2142978096
|
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|
NM_000018.4(ACADVL):c.845T>C (p.Phe282Ser)
|
rs2071268683
|
|
|
NM_000018.4(ACADVL):c.855G>C (p.Glu285Asp)
|
rs201509063
|
|
|
NM_000018.4(ACADVL):c.86G>A (p.Gly29Glu)
|
rs1247979958
|
|
|
NM_000018.4(ACADVL):c.879-13T>A
|
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|
NM_000018.4(ACADVL):c.879-14C>G
|
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|
NM_000018.4(ACADVL):c.883C>T (p.Pro295Ser)
|
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|
|
NM_000018.4(ACADVL):c.886C>T (p.Pro296Ser)
|
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|
|
NM_000018.4(ACADVL):c.887C>T (p.Pro296Leu)
|
|
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|
NM_000018.4(ACADVL):c.889_891del (p.Glu297del)
|
rs796051914
|
|
|
NM_000018.4(ACADVL):c.891G>C (p.Glu297Asp)
|
rs2071287588
|
|
|
NM_000018.4(ACADVL):c.895A>G (p.Lys299Glu)
|
rs2142979869
|
|
|
NM_000018.4(ACADVL):c.896A>G (p.Lys299Arg)
|
rs771247610
|
|
|
NM_000018.4(ACADVL):c.8C>T (p.Ala3Val)
|
|
|
|
NM_000018.4(ACADVL):c.911C>T (p.Ala304Val)
|
rs1473375424
|
|
|
NM_000018.4(ACADVL):c.922G>A (p.Ala308Thr)
|
|
|
|
NM_000018.4(ACADVL):c.937G>C (p.Asp313His)
|
|
|
|
NM_000018.4(ACADVL):c.938_940del (p.Asp313del)
|
rs2142980046
|
|
|
NM_000018.4(ACADVL):c.949G>A (p.Val317Met)
|
rs1567565417
|
|
|
NM_000018.4(ACADVL):c.956C>T (p.Ser319Leu)
|
rs149467828
|
|
|
NM_000018.4(ACADVL):c.963C>A (p.Asn321Lys)
|
rs568118142
|
|
|
NM_000018.4(ACADVL):c.975G>C (p.Glu325Asp)
|
rs1271862153
|
|
|
NM_000018.4(ACADVL):c.976G>T (p.Val326Phe)
|
|
|
|
NM_000018.4(ACADVL):c.977T>C (p.Val326Ala)
|
rs1205407134
|
|
|
NM_000018.4(ACADVL):c.988T>C (p.Phe330Leu)
|
rs947624074
|
|
|
NM_000018.4(ACADVL):c.990C>G (p.Phe330Leu)
|
rs2071292084
|
|
|
NM_000018.4(ACADVL):c.997G>A (p.Ala333Thr)
|
rs2071292782
|
|
|
NM_000023.4(SGCA):c.1001A>G (p.His334Arg)
|
|
|
|
NM_000023.4(SGCA):c.1007_1009dup (p.Thr336dup)
|
rs2144511791
|
|
|
NM_000023.4(SGCA):c.1010T>C (p.Ile337Thr)
|
rs1353699486
|
|
|
NM_000023.4(SGCA):c.103G>A (p.Val35Ile)
|
|
|
|
NM_000023.4(SGCA):c.1041G>A (p.Met347Ile)
|
|
|
|
NM_000023.4(SGCA):c.1043C>T (p.Ala348Val)
|
|
|
|
NM_000023.4(SGCA):c.1054G>C (p.Glu352Gln)
|
rs763372958
|
|
|
NM_000023.4(SGCA):c.1067C>G (p.Pro356Arg)
|
|
|
|
NM_000023.4(SGCA):c.106T>G (p.Phe36Val)
|
rs1904989565
|
|
|
NM_000023.4(SGCA):c.1073C>T (p.Ser358Phe)
|
rs1173172749
|
|
|
NM_000023.4(SGCA):c.1093G>C (p.Val365Leu)
|
rs1905851242
|
|
|
NM_000023.4(SGCA):c.1105G>A (p.Glu369Lys)
|
|
|
|
NM_000023.4(SGCA):c.1114C>T (p.Pro372Ser)
|
|
|
|
NM_000023.4(SGCA):c.1148T>A (p.Ile383Asn)
|
|
|
|
NM_000023.4(SGCA):c.1153_1163del (p.Asp385fs)
|
rs1487379783
|
|
|
NM_000023.4(SGCA):c.13C>G (p.Leu5Val)
|
rs2144488329
|
|
|
NM_000023.4(SGCA):c.164C>T (p.Pro55Leu)
|
|
|
|
NM_000023.4(SGCA):c.169G>A (p.Ala57Thr)
|
rs769778891
|
|
|
NM_000023.4(SGCA):c.187C>T (p.His63Tyr)
|
rs1905021704
|
|
|
NM_000023.4(SGCA):c.201G>A (p.Gln67=)
|
|
|
|
NM_000023.4(SGCA):c.208C>T (p.Pro70Ser)
|
rs1348067599
|
|
|
NM_000023.4(SGCA):c.238C>G (p.Gln80Glu)
|
rs2144494297
|
|
|
NM_000023.4(SGCA):c.246C>A (p.Ser82Arg)
|
rs1598265282
|
|
|
NM_000023.4(SGCA):c.257C>T (p.Pro86Leu)
|
rs2144494380
|
|
|
NM_000023.4(SGCA):c.284C>G (p.Pro95Arg)
|
rs1905033797
|
|
|
NM_000023.4(SGCA):c.286G>A (p.Glu96Lys)
|
|
|
|
NM_000023.4(SGCA):c.28C>T (p.Leu10Phe)
|
|
|
|
NM_000023.4(SGCA):c.304G>A (p.Val102Ile)
|
rs1266940329
|
|
|
NM_000023.4(SGCA):c.310G>A (p.Glu104Lys)
|
rs2144494625
|
|
|
NM_000023.4(SGCA):c.312+11G>A
|
|
|
|
NM_000023.4(SGCA):c.312G>A (p.Glu104=)
|
rs886044401
|
|
|
NM_000023.4(SGCA):c.313-3C>T
|
rs1905060607
|
|
|
NM_000023.4(SGCA):c.319G>A (p.Ala107Thr)
|
|
|
|
NM_000023.4(SGCA):c.333C>A (p.Asp111Glu)
|
rs1905064323
|
|
|
NM_000023.4(SGCA):c.341A>C (p.Asp114Ala)
|
rs749097695
|
|
|
NM_000023.4(SGCA):c.37+6T>C
|
rs751466815
|
|
|
NM_000023.4(SGCA):c.376G>A (p.Asp126Asn)
|
rs1905070029
|
|
|
NM_000023.4(SGCA):c.385+5C>T
|
|
|
|
NM_000023.4(SGCA):c.388C>T (p.Pro130Ser)
|
|
|
|
NM_000023.4(SGCA):c.421C>T (p.Arg141Cys)
|
|
|
|
NM_000023.4(SGCA):c.436G>C (p.Glu146Gln)
|
rs1555568758
|
|
|
NM_000023.4(SGCA):c.448C>A (p.Pro150Thr)
|
|
|
|
NM_000023.4(SGCA):c.461C>T (p.Ala154Val)
|
rs957820595
|
|
|
NM_000023.4(SGCA):c.465C>G (p.Ser155Arg)
|
rs2144496691
|
|
|
NM_000023.4(SGCA):c.483_484delinsCT (p.Leu161_Gly162delinsPheTrp)
|
rs1555568788
|
|
|
NM_000023.4(SGCA):c.498G>C (p.Glu166Asp)
|
rs1598267318
|
|
|
NM_000023.4(SGCA):c.523G>A (p.Val175Ile)
|
|
|
|
NM_000023.4(SGCA):c.52C>G (p.Leu18Val)
|
rs1555568100
|
|
|
NM_000023.4(SGCA):c.541C>A (p.Arg181Ser)
|
rs574376340
|
|
|
NM_000023.4(SGCA):c.541C>T (p.Arg181Cys)
|
rs574376340
|
|
|
NM_000023.4(SGCA):c.542G>A (p.Arg181His)
|
|
|
|
NM_000023.4(SGCA):c.542G>T (p.Arg181Leu)
|
rs746412103
|
|
|
NM_000023.4(SGCA):c.548G>T (p.Gly183Val)
|
rs773107290
|
|
|
NM_000023.4(SGCA):c.550C>T (p.Arg184Cys)
|
|
|
|
NM_000023.4(SGCA):c.56G>A (p.Gly19Glu)
|
|
|
|
NM_000023.4(SGCA):c.584G>T (p.Gly195Val)
|
|
|
|
NM_000023.4(SGCA):c.586G>T (p.Val196Leu)
|
rs752695991
|
|
|
NM_000023.4(SGCA):c.588_599del (p.Tyr197_Val200del)
|
rs1555568966
|
|
|
NM_000023.4(SGCA):c.608C>T (p.Ala203Val)
|
|
|
|
NM_000023.4(SGCA):c.635T>A (p.Met212Lys)
|
rs2144498202
|
|
|
NM_000023.4(SGCA):c.643T>C (p.Ser215Pro)
|
rs76542495
|
|
|
NM_000023.4(SGCA):c.646C>T (p.Pro216Ser)
|
|
|
|
NM_000023.4(SGCA):c.668C>T (p.Ala223Val)
|
|
|
|
NM_000023.4(SGCA):c.674G>A (p.Gly225Asp)
|
rs886044540
|
|
|
NM_000023.4(SGCA):c.695G>A (p.Cys232Tyr)
|
rs2144498403
|
|
|
NM_000023.4(SGCA):c.722G>A (p.Arg241His)
|
|
|
|
NM_000023.4(SGCA):c.731G>C (p.Trp244Ser)
|
|
|
|
NM_000023.4(SGCA):c.748-11_748-10delinsAA
|
rs2144500582
|
|
|
NM_000023.4(SGCA):c.748G>T (p.Val250Leu)
|
rs1473539605
|
|
|
NM_000023.4(SGCA):c.750G>A (p.Val250=)
|
|
|
|
NM_000023.4(SGCA):c.772G>T (p.Ala258Ser)
|
rs934936899
|
|
|
NM_000023.4(SGCA):c.781G>A (p.Val261Met)
|
rs754703769
|
|
|
NM_000023.4(SGCA):c.781G>T (p.Val261Leu)
|
rs754703769
|
|
|
NM_000023.4(SGCA):c.829C>T (p.Pro277Ser)
|
rs2144500932
|
|
|
NM_000023.4(SGCA):c.842C>T (p.Ala281Val)
|
rs1905262104
|
|
|
NM_000023.4(SGCA):c.905T>C (p.Leu302Pro)
|
|
|
|
NM_000023.4(SGCA):c.946C>T (p.Arg316Trp)
|
|
|
|
NM_000023.4(SGCA):c.969C>A (p.Asp323Glu)
|
rs1309107612
|
|
|
NM_000023.4(SGCA):c.977C>T (p.Thr326Ile)
|
|
|
|
NM_000116.5(TAFAZZIN):c.100T>A (p.Phe34Ile)
|
|
|
|
NM_000116.5(TAFAZZIN):c.110-18C>T
|
|
|
|
NM_000116.5(TAFAZZIN):c.113A>G (p.Tyr38Cys)
|
|
|
|
NM_000116.5(TAFAZZIN):c.117G>A (p.Met39Ile)
|
|
|
|
NM_000116.5(TAFAZZIN):c.127A>T (p.Thr43Ser)
|
|
|
|
NM_000116.5(TAFAZZIN):c.145G>C (p.Val49Leu)
|
|
|
|
NM_000116.5(TAFAZZIN):c.154G>C (p.Glu52Gln)
|
|
|
|
NM_000116.5(TAFAZZIN):c.162C>G (p.Ile54Met)
|
|
|
|
NM_000116.5(TAFAZZIN):c.179C>T (p.Ala60Val)
|
|
|
|
NM_000116.5(TAFAZZIN):c.182C>T (p.Thr61Met)
|
|
|
|
NM_000116.5(TAFAZZIN):c.184C>T (p.Pro62Ser)
|
rs2068328744
|
|
|
NM_000116.5(TAFAZZIN):c.18G>T (p.Lys6Asn)
|
|
|
|
NM_000116.5(TAFAZZIN):c.190A>C (p.Ile64Leu)
|
rs1322365208
|
|
|
NM_000116.5(TAFAZZIN):c.1A>G (p.Met1Val)
|
|
|
|
NM_000116.5(TAFAZZIN):c.205C>A (p.His69Asn)
|
rs2068329796
|
|
|
NM_000116.5(TAFAZZIN):c.222C>G (p.Asp74Glu)
|
|
|
|
NM_000116.5(TAFAZZIN):c.227C>T (p.Pro76Leu)
|
rs878853654
|
|
|
NM_000116.5(TAFAZZIN):c.230A>G (p.His77Arg)
|
rs794729173
|
|
|
NM_000116.5(TAFAZZIN):c.233T>A (p.Leu78His)
|
|
|
|
NM_000116.5(TAFAZZIN):c.238+6C>T
|
rs781786197
|
|
|
NM_000116.5(TAFAZZIN):c.250C>T (p.Leu84Phe)
|
|
|
|
NM_000116.5(TAFAZZIN):c.284+3G>C
|
rs1569552708
|
|
|
NM_000116.5(TAFAZZIN):c.284+4A>T
|
rs1603377638
|
|
|
NM_000116.5(TAFAZZIN):c.284+5G>A
|
|
|
|
NM_000116.5(TAFAZZIN):c.28C>T (p.Pro10Ser)
|
|
|
|
NM_000116.5(TAFAZZIN):c.299C>T (p.Ala100Val)
|
rs1569552722
|
|
|
NM_000116.5(TAFAZZIN):c.29C>G (p.Pro10Arg)
|
rs781941217
|
|
|
NM_000116.5(TAFAZZIN):c.308G>A (p.Cys103Tyr)
|
|
|
|
NM_000116.5(TAFAZZIN):c.314C>T (p.Thr105Ile)
|
|
|
|
NM_000116.5(TAFAZZIN):c.322C>A (p.Leu108Ile)
|
|
|
|
NM_000116.5(TAFAZZIN):c.334T>C (p.Phe112Leu)
|
rs1281729528
|
|
|
NM_000116.5(TAFAZZIN):c.368G>C (p.Arg123Pro)
|
|
|
|
NM_000116.5(TAFAZZIN):c.370+2T>A
|
|
|
|
NM_000116.5(TAFAZZIN):c.370G>A (p.Gly124Arg)
|
|
|
|
NM_000116.5(TAFAZZIN):c.371G>A (p.Gly124Glu)
|
|
|
|
NM_000116.5(TAFAZZIN):c.379T>G (p.Phe127Val)
|
|
|
|
NM_000116.5(TAFAZZIN):c.37C>T (p.Pro13Ser)
|
|
|
|
NM_000116.5(TAFAZZIN):c.380T>G (p.Phe127Cys)
|
rs2068411768
|
|
|
NM_000116.5(TAFAZZIN):c.385C>T (p.Gln129Ter)
|
|
|
|
NM_000116.5(TAFAZZIN):c.394A>T (p.Asn132Tyr)
|
|
|
|
NM_000116.5(TAFAZZIN):c.3G>A (p.Met1Ile)
|
|
|
|
NM_000116.5(TAFAZZIN):c.409G>A (p.Val137Ile)
|
rs2068412679
|
|
|
NM_000116.5(TAFAZZIN):c.416A>T (p.Asp139Val)
|
rs1603378339
|
|
|
NM_000116.5(TAFAZZIN):c.425_428del (p.Arg142fs)
|
rs782253789
|
|
|
NM_000116.5(TAFAZZIN):c.429C>G (p.His143Gln)
|
|
|
|
NM_000116.5(TAFAZZIN):c.460G>A (p.Gly154Arg)
|
rs2068414496
|
|
|
NM_000116.5(TAFAZZIN):c.461-10_461-5del
|
|
|
|
NM_000116.5(TAFAZZIN):c.461-3C>A
|
|
|
|
NM_000116.5(TAFAZZIN):c.47C>G (p.Thr16Ser)
|
rs1227132566
|
|
|
NM_000116.5(TAFAZZIN):c.517G>A (p.Asp173Asn)
|
|
|
|
NM_000116.5(TAFAZZIN):c.51G>T (p.Trp17Cys)
|
rs1603376560
|
|
|
NM_000116.5(TAFAZZIN):c.524T>G (p.Val175Gly)
|
|
|
|
NM_000116.5(TAFAZZIN):c.53C>T (p.Thr18Ile)
|
|
|
|
NM_000116.5(TAFAZZIN):c.541+13_541+28del
|
|
|
|
NM_000116.5(TAFAZZIN):c.541+5G>A
|
rs2068571041
|
|
|
NM_000116.5(TAFAZZIN):c.541G>A (p.Gly181Arg)
|
|
|
|
NM_000116.5(TAFAZZIN):c.542-3C>T
|
|
|
|
NM_000116.5(TAFAZZIN):c.542G>A (p.Gly181Glu)
|
rs2068574531
|
|
|
NM_000116.5(TAFAZZIN):c.549G>T (p.Val183=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.572G>C (p.Arg191Pro)
|
|
|
|
NM_000116.5(TAFAZZIN):c.578A>T (p.Lys193Met)
|
|
|
|
NM_000116.5(TAFAZZIN):c.583G>A (p.Gly195Arg)
|
rs878853656
|
|
|
NM_000116.5(TAFAZZIN):c.584G>A (p.Gly195Glu)
|
|
|
|
NM_000116.5(TAFAZZIN):c.608G>A (p.Cys203Tyr)
|
|
|
|
NM_000116.5(TAFAZZIN):c.611A>G (p.His204Arg)
|
|
|
|
NM_000116.5(TAFAZZIN):c.613C>A (p.Leu205Ile)
|
|
|
|
NM_000116.5(TAFAZZIN):c.645C>T (p.Val215=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.647G>A (p.Gly216Glu)
|
rs727504431
|
|
|
NM_000116.5(TAFAZZIN):c.657C>G (p.Asp219Glu)
|
rs140751478
|
|
|
NM_000116.5(TAFAZZIN):c.658G>A (p.Val220Ile)
|
|
|
|
NM_000116.5(TAFAZZIN):c.682T>C (p.Phe228Leu)
|
|
|
|
NM_000116.5(TAFAZZIN):c.699+6T>G
|
|
|
|
NM_000116.5(TAFAZZIN):c.700-13G>A
|
|
|
|
NM_000116.5(TAFAZZIN):c.702A>G (p.Lys234=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.707C>T (p.Thr236Ile)
|
|
|
|
NM_000116.5(TAFAZZIN):c.725C>T (p.Pro242Leu)
|
|
|
|
NM_000116.5(TAFAZZIN):c.727T>A (p.Phe243Ile)
|
|
|
|
NM_000116.5(TAFAZZIN):c.745C>A (p.Leu249Ile)
|
|
|
|
NM_000116.5(TAFAZZIN):c.751C>G (p.Arg251Gly)
|
rs372689133
|
|
|
NM_000116.5(TAFAZZIN):c.752G>A (p.Arg251Gln)
|
|
|
|
NM_000116.5(TAFAZZIN):c.754_763del (p.Leu252fs)
|
rs1557194381
|
|
|
NM_000116.5(TAFAZZIN):c.757C>T (p.Arg253Trp)
|
rs2068605582
|
|
|
NM_000116.5(TAFAZZIN):c.773C>T (p.Ser258Leu)
|
rs2068606445
|
|
|
NM_000116.5(TAFAZZIN):c.776C>T (p.Ala259Val)
|
|
|
|
NM_000116.5(TAFAZZIN):c.777+3G>A
|
rs2068606988
|
|
|
NM_000116.5(TAFAZZIN):c.777+6T>C
|
rs782175712
|
|
|
NM_000116.5(TAFAZZIN):c.788G>A (p.Arg263Gln)
|
|
|
|
NM_000116.5(TAFAZZIN):c.790A>G (p.Lys264Glu)
|
rs1557194488
|
|
|
NM_000116.5(TAFAZZIN):c.800C>T (p.Thr267Met)
|
rs1557194504
|
|
|
NM_000116.5(TAFAZZIN):c.811C>T (p.Gln271Ter)
|
rs1298362744
|
|
|
NM_000116.5(TAFAZZIN):c.812A>C (p.Gln271Pro)
|
|
|
|
NM_000116.5(TAFAZZIN):c.823C>T (p.Gln275Ter)
|
rs397515750
|
|
|
NM_000116.5(TAFAZZIN):c.836C>T (p.Thr279Ile)
|
|
|
|
NM_000116.5(TAFAZZIN):c.843_850del (p.Glu282fs)
|
|
|
|
NM_000116.5(TAFAZZIN):c.849G>C (p.Gln283His)
|
rs1025920600
|
|
|
NM_000116.5(TAFAZZIN):c.855C>A (p.His285Gln)
|
|
|
|
NM_000116.5(TAFAZZIN):c.85G>C (p.Gly29Arg)
|
|
|
|
NM_000116.5(TAFAZZIN):c.89C>T (p.Thr30Ile)
|
rs2068315101
|
|
|
NM_000116.5(TAFAZZIN):c.92A>G (p.Tyr31Cys)
|
|
|
|
NM_000117.2(EMD):c.-248_*326dup1339
|
|
|
|
NM_000117.3(EMD):c.110A>G (p.Lys37Arg)
|
|
|
|
NM_000117.3(EMD):c.115_117del (p.Phe39del)
|
rs781959238
|
|
|
NM_000117.3(EMD):c.118G>C (p.Glu40Gln)
|
rs2067875036
|
|
|
NM_000117.3(EMD):c.121T>G (p.Tyr41Asp)
|
|
|
|
NM_000117.3(EMD):c.136C>T (p.Arg46Trp)
|
rs2067875291
|
|
|
NM_000117.3(EMD):c.139C>T (p.Arg47Trp)
|
|
|
|
NM_000117.3(EMD):c.152C>G (p.Pro51Arg)
|
|
|
|
NM_000117.3(EMD):c.168CTC[1] (p.Ser58del)
|
|
|
|
NM_000117.3(EMD):c.176A>G (p.Tyr59Cys)
|
rs2148128196
|
|
|
NM_000117.3(EMD):c.180C>G (p.Ser60Arg)
|
rs2067875771
|
|
|
NM_000117.3(EMD):c.187+4A>T
|
rs2148128205
|
|
|
NM_000117.3(EMD):c.187+5G>C
|
|
|
|
NM_000117.3(EMD):c.188-6A>G
|
rs2148128297
|
|
|
NM_000117.3(EMD):c.188A>G (p.Asp63Gly)
|
rs1557182355
|
|
|
NM_000117.3(EMD):c.192G>C (p.Leu64Phe)
|
rs782066603
|
|
|
NM_000117.3(EMD):c.206G>A (p.Gly69Glu)
|
|
|
|
NM_000117.3(EMD):c.208G>T (p.Asp70Tyr)
|
rs2148128314
|
|
|
NM_000117.3(EMD):c.20T>A (p.Leu7His)
|
rs794729016
|
|
|
NM_000117.3(EMD):c.218T>C (p.Met73Thr)
|
rs2148128327
|
|
|
NM_000117.3(EMD):c.229C>T (p.Pro77Ser)
|
rs1557182365
|
|
|
NM_000117.3(EMD):c.235A>G (p.Lys79Glu)
|
|
|
|
NM_000117.3(EMD):c.236A>G (p.Lys79Arg)
|
|
|
|
NM_000117.3(EMD):c.237A>C (p.Lys79Asn)
|
|
|
|
NM_000117.3(EMD):c.23C>G (p.Ser8Trp)
|
rs869025400
|
|
|
NM_000117.3(EMD):c.23C>T (p.Ser8Leu)
|
rs869025400
|
|
|
NM_000117.3(EMD):c.271A>G (p.Asn91Asp)
|
rs2067879275
|
|
|
NM_000117.3(EMD):c.307A>G (p.Arg103Gly)
|
|
|
|
NM_000117.3(EMD):c.317G>A (p.Gly106Glu)
|
rs1312994862
|
|
|
NM_000117.3(EMD):c.31G>A (p.Glu11Lys)
|
rs2148127965
|
|
|
NM_000117.3(EMD):c.321G>T (p.Glu107Asp)
|
|
|
|
NM_000117.3(EMD):c.32A>G (p.Glu11Gly)
|
|
|
|
NM_000117.3(EMD):c.334G>A (p.Gly112Ser)
|
|
|
|
NM_000117.3(EMD):c.343A>T (p.Arg115Trp)
|
rs2067879939
|
|
|
NM_000117.3(EMD):c.350T>G (p.Val117Gly)
|
rs781924971
|
|
|
NM_000117.3(EMD):c.356A>G (p.Gln119Arg)
|
|
|
|
NM_000117.3(EMD):c.377A>G (p.Asp126Gly)
|
|
|
|
NM_000117.3(EMD):c.37A>C (p.Thr13Pro)
|
rs2148127968
|
|
|
NM_000117.3(EMD):c.399G>C (p.Gln133His)
|
|
|
|
NM_000117.3(EMD):c.400-3C>T
|
|
|
|
NM_000117.3(EMD):c.406G>A (p.Asp136Asn)
|
rs869025401
|
|
|
NM_000117.3(EMD):c.411C>G (p.Asp137Glu)
|
rs2148128718
|
|
|
NM_000117.3(EMD):c.413A>G (p.Asp138Gly)
|
rs1212579575
|
|
|
NM_000117.3(EMD):c.41C>A (p.Thr14Asn)
|
|
|
|
NM_000117.3(EMD):c.421TCT[2] (p.Ser143del)
|
rs1557182551
|
|
|
NM_000117.3(EMD):c.425C>T (p.Ser142Phe)
|
rs2067882775
|
|
|
NM_000117.3(EMD):c.433G>A (p.Glu145Lys)
|
rs2067882908
|
|
|
NM_000117.3(EMD):c.437A>G (p.Glu146Gly)
|
rs2148128747
|
|
|
NM_000117.3(EMD):c.448A>G (p.Arg150Gly)
|
|
|
|
NM_000117.3(EMD):c.449+4C>T
|
rs886044810
|
|
|
NM_000117.3(EMD):c.449G>C (p.Arg150Thr)
|
rs1557182571
|
|
|
NM_000117.3(EMD):c.457C>T (p.Pro153Ser)
|
|
|
|
NM_000117.3(EMD):c.460A>G (p.Met154Val)
|
rs782806462
|
|
|
NM_000117.3(EMD):c.487A>G (p.Ser163Gly)
|
rs1557182614
|
|
|
NM_000117.3(EMD):c.490A>C (p.Ile164Leu)
|
rs2067884058
|
|
|
NM_000117.3(EMD):c.490A>G (p.Ile164Val)
|
|
|
|
NM_000117.3(EMD):c.497A>G (p.His166Arg)
|
rs1016943599
|
|
|
NM_000117.3(EMD):c.500A>G (p.Tyr167Cys)
|
rs2067884177
|
|
|
NM_000117.3(EMD):c.503G>A (p.Arg168His)
|
rs898460509
|
|
|
NM_000117.3(EMD):c.503G>T (p.Arg168Leu)
|
|
|
|
NM_000117.3(EMD):c.524G>A (p.Ser175Asn)
|
|
|
|
NM_000117.3(EMD):c.525C>G (p.Ser175Arg)
|
rs782367505
|
|
|
NM_000117.3(EMD):c.52C>A (p.Arg18=)
|
rs2148127991
|
|
|
NM_000117.3(EMD):c.533A>G (p.Asp178Gly)
|
rs2067884448
|
|
|
NM_000117.3(EMD):c.534C>A (p.Asp178Glu)
|
|
|
|
NM_000117.3(EMD):c.547C>T (p.Pro183Ser)
|
rs104894806
|
|
|
NM_000117.3(EMD):c.548C>T (p.Pro183Leu)
|
rs104894805
|
|
|
NM_000117.3(EMD):c.550_552del (p.Thr184del)
|
|
|
|
NM_000117.3(EMD):c.551C>T (p.Thr184Ile)
|
|
|
|
NM_000117.3(EMD):c.571A>G (p.Met191Val)
|
rs397515752
|
|
|
NM_000117.3(EMD):c.576CTC[1] (p.Ser199del)
|
rs2067884874
|
|
|
NM_000117.3(EMD):c.578C>T (p.Ser193Phe)
|
rs1220835396
|
|
|
NM_000117.3(EMD):c.587C>G (p.Ser196Cys)
|
|
|
|
NM_000117.3(EMD):c.587C>T (p.Ser196Phe)
|
rs781900414
|
|
|
NM_000117.3(EMD):c.599G>T (p.Trp200Leu)
|
|
|
|
NM_000117.3(EMD):c.59A>G (p.Asn20Ser)
|
|
|
|
NM_000117.3(EMD):c.618C>G (p.Ile206Met)
|
rs782496874
|
|
|
NM_000117.3(EMD):c.623C>G (p.Pro208Arg)
|
rs987808355
|
|
|
NM_000117.3(EMD):c.631C>G (p.Arg211Gly)
|
rs782193940
|
|
|
NM_000117.3(EMD):c.641G>C (p.Gly214Ala)
|
rs2148128967
|
|
|
NM_000117.3(EMD):c.651G>A (p.Leu217=)
|
rs2067885915
|
|
|
NM_000117.3(EMD):c.656A>G (p.Gln219Arg)
|
|
|
|
NM_000117.3(EMD):c.65C>T (p.Pro22Leu)
|
rs794729017
|
|
|
NM_000117.3(EMD):c.662G>A (p.Arg221His)
|
rs782057378
|
|
|
NM_000117.3(EMD):c.667G>A (p.Val223Ile)
|
|
|
|
NM_000117.3(EMD):c.670C>T (p.Pro224Ser)
|
rs1557182687
|
|
|
NM_000117.3(EMD):c.671C>G (p.Pro224Arg)
|
|
|
|
NM_000117.3(EMD):c.680_684del (p.Gly227fs)
|
rs2148128987
|
|
|
NM_000117.3(EMD):c.683A>G (p.Gln228Arg)
|
|
|
|
NM_000117.3(EMD):c.684GCT[2] (p.Leu231del)
|
rs2067886222
|
|
|
NM_000117.3(EMD):c.68_69delinsCT (p.His23Pro)
|
rs2067873549
|
|
|
NM_000117.3(EMD):c.69C>G (p.His23Gln)
|
|
|
|
NM_000117.3(EMD):c.706G>A (p.Val236Met)
|
|
|
|
NM_000117.3(EMD):c.709A>G (p.Ile237Val)
|
rs2148129009
|
|
|
NM_000117.3(EMD):c.70G>A (p.Gly24Arg)
|
rs727504628
|
|
|
NM_000117.3(EMD):c.70G>C (p.Gly24Arg)
|
|
|
|
NM_000117.3(EMD):c.717_718del (p.Phe240fs)
|
rs1603366041
|
|
|
NM_000117.3(EMD):c.718TTC[1] (p.Phe241del)
|
rs2148129019
|
|
|
NM_000117.3(EMD):c.725T>G (p.Ile242Ser)
|
rs2067886717
|
|
|
NM_000117.3(EMD):c.73C>A (p.Pro25Thr)
|
rs876661346
|
|
|
NM_000117.3(EMD):c.74C>G (p.Pro25Arg)
|
rs2067873634
|
|
|
NM_000117.3(EMD):c.74C>T (p.Pro25Leu)
|
rs2067873634
|
|
|
NM_000117.3(EMD):c.762C>G (p.Phe254Leu)
|
|
|
|
NM_000117.3(EMD):c.77T>C (p.Val26Ala)
|
rs727505029
|
|
|
NM_000117.3(EMD):c.82+3A>G
|
|
|
|
NM_000117.3(EMD):c.82+4C>A
|
rs376569563
|
|
|
NM_000117.3(EMD):c.82+4C>T
|
|
|
|
NM_000117.3(EMD):c.82G>A (p.Gly28Arg)
|
rs1064797380
|
|
|
NM_000117.3(EMD):c.82G>C (p.Gly28Arg)
|
rs1064797380
|
|
|
NM_000117.3(EMD):c.83-6G>A
|
|
|
|
NM_000117.3(EMD):c.83G>A (p.Gly28Glu)
|
rs781978021
|
|
|
NM_000117.3(EMD):c.85T>C (p.Ser29Pro)
|
rs2067874763
|
|
|
NM_000117.3(EMD):c.86C>T (p.Ser29Leu)
|
|
|
|
NM_000117.3(EMD):c.92G>C (p.Arg31Pro)
|
|
|
|
NM_000117.3(EMD):c.92G>T (p.Arg31Leu)
|
rs2148128120
|
|
|
NM_000117.3(EMD):c.95G>C (p.Arg32Thr)
|
|
|
|
NM_000126.4(ETFA):c.-11_16del (p.Met1_Ala6del)
|
|
|
|
NM_000126.4(ETFA):c.100G>A (p.Ala34Thr)
|
|
|
|
NM_000126.4(ETFA):c.136C>T (p.Arg46Cys)
|
|
|
|
NM_000126.4(ETFA):c.163G>A (p.Val55Ile)
|
rs1035217923
|
|
|
NM_000126.4(ETFA):c.170G>T (p.Gly57Val)
|
|
|
|
NM_000126.4(ETFA):c.178T>G (p.Cys60Gly)
|
|
|
|
NM_000126.4(ETFA):c.187-3T>C
|
|
|
|
NM_000126.4(ETFA):c.245A>T (p.Asp82Val)
|
|
|
|
NM_000126.4(ETFA):c.263T>C (p.Leu88Pro)
|
rs1400343293
|
|
|
NM_000126.4(ETFA):c.265C>T (p.Pro89Ser)
|
rs2039778041
|
|
|
NM_000126.4(ETFA):c.269-8A>G
|
rs1440046169
|
|
|
NM_000126.4(ETFA):c.295A>G (p.Thr99Ala)
|
|
|
|
NM_000126.4(ETFA):c.300G>T (p.Gln100His)
|
rs948361766
|
|
|
NM_000126.4(ETFA):c.323T>A (p.Ile108Asn)
|
rs1414148078
|
|
|
NM_000126.4(ETFA):c.323T>C (p.Ile108Thr)
|
|
|
|
NM_000126.4(ETFA):c.32G>A (p.Arg11Gln)
|
|
|
|
NM_000126.4(ETFA):c.334G>A (p.Ala112Thr)
|
|
|
|
NM_000126.4(ETFA):c.334G>T (p.Ala112Ser)
|
|
|
|
NM_000126.4(ETFA):c.345C>A (p.Phe115Leu)
|
|
|
|
NM_000126.4(ETFA):c.388G>A (p.Ala130Thr)
|
|
|
|
NM_000126.4(ETFA):c.405C>G (p.Ile135Met)
|
|
|
|
NM_000126.4(ETFA):c.431T>C (p.Phe144Ser)
|
rs755055339
|
|
|
NM_000126.4(ETFA):c.461T>C (p.Leu154Pro)
|
rs1286837897
|
|
|
NM_000126.4(ETFA):c.467C>T (p.Thr156Ile)
|
rs199597352
|
|
|
NM_000126.4(ETFA):c.481G>A (p.Glu161Lys)
|
|
|
|
NM_000126.4(ETFA):c.521A>C (p.Asp174Ala)
|
rs1396125343
|
|
|
NM_000126.4(ETFA):c.521A>G (p.Asp174Gly)
|
|
|
|
NM_000126.4(ETFA):c.53G>A (p.Arg18Gln)
|
|
|
|
NM_000126.4(ETFA):c.560A>G (p.Lys187Arg)
|
rs2141531541
|
|
|
NM_000126.4(ETFA):c.592G>C (p.Glu198Gln)
|
rs2141530756
|
|
|
NM_000126.4(ETFA):c.625C>G (p.Arg209Gly)
|
rs199763682
|
|
|
NM_000126.4(ETFA):c.631G>A (p.Glu211Lys)
|
|
|
|
NM_000126.4(ETFA):c.63T>G (p.Ser21Arg)
|
rs1596224387
|
|
|
NM_000126.4(ETFA):c.668G>A (p.Arg223Gln)
|
|
|
|
NM_000126.4(ETFA):c.682G>A (p.Gly228Arg)
|
rs1390694827
|
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|
NM_000126.4(ETFA):c.683G>A (p.Gly228Glu)
|
|
|
|
NM_000126.4(ETFA):c.69_140del (p.Val24_Leu47del)
|
|
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|
NM_000126.4(ETFA):c.706G>T (p.Asp236Tyr)
|
rs2141528171
|
|
|
NM_000126.4(ETFA):c.745C>T (p.Arg249Cys)
|
rs1353938548
|
|
|
NM_000126.4(ETFA):c.775A>G (p.Asn259Asp)
|
|
|
|
NM_000126.4(ETFA):c.77C>T (p.Ala26Val)
|
rs1389901296
|
|
|
NM_000126.4(ETFA):c.79G>A (p.Glu27Lys)
|
rs2141543849
|
|
|
NM_000126.4(ETFA):c.805A>T (p.Ile269Leu)
|
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|
|
NM_000126.4(ETFA):c.806TAG[1] (p.Val270del)
|
rs779140971
|
|
|
NM_000126.4(ETFA):c.811G>A (p.Ala271Thr)
|
|
|
|
NM_000126.4(ETFA):c.838A>C (p.Ile280Leu)
|
|
|
|
NM_000126.4(ETFA):c.866G>C (p.Gly289Ala)
|
|
|
|
NM_000126.4(ETFA):c.871A>C (p.Lys291Gln)
|
rs1184566559
|
|
|
NM_000126.4(ETFA):c.882+3A>G
|
|
|
|
NM_000126.4(ETFA):c.882+6T>G
|
rs746311782
|
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|
NM_000126.4(ETFA):c.88A>G (p.Asn30Asp)
|
rs2039810890
|
|
|
NM_000126.4(ETFA):c.8G>C (p.Arg3Pro)
|
rs2141564581
|
|
|
NM_000126.4(ETFA):c.917C>T (p.Pro306Leu)
|
|
|
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NM_000126.4(ETFA):c.934G>A (p.Asp312Asn)
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|
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|
NM_000126.4(ETFA):c.946G>C (p.Val316Leu)
|
rs1567195832
|
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NM_000126.4(ETFA):c.946G>T (p.Val316Phe)
|
rs1567195832
|
|
|
NM_000126.4(ETFA):c.963+1del
|
rs746488455
|
|
|
NM_000126.4(ETFA):c.973G>A (p.Glu325Lys)
|
rs2038898400
|
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|
NM_000126.4(ETFA):c.974A>G (p.Glu325Gly)
|
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NM_000126.4(ETFA):c.980C>A (p.Thr327Asn)
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NM_000126.4(ETFA):c.994A>G (p.Lys332Glu)
|
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|
|
NM_000152.5(GAA):c.-32-13T>C
|
rs386834236
|
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NM_000152.5(GAA):c.-32-3del
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|
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|
NM_000152.5(GAA):c.1000G>A (p.Gly334Ser)
|
rs886042960
|
|
|
NM_000152.5(GAA):c.1007T>C (p.Ile336Thr)
|
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NM_000152.5(GAA):c.1033C>T (p.Pro345Ser)
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NM_000152.5(GAA):c.1036G>C (p.Glu346Gln)
|
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|
NM_000152.5(GAA):c.1039C>T (p.Pro347Ser)
|
rs2039144354
|
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NM_000152.5(GAA):c.1049T>C (p.Val350Ala)
|
rs2039144934
|
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NM_000152.5(GAA):c.1054C>A (p.Gln352Lys)
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NM_000152.5(GAA):c.1069G>A (p.Val357Ile)
|
rs754449703
|
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NM_000152.5(GAA):c.1069G>T (p.Val357Phe)
|
rs754449703
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NM_000152.5(GAA):c.1075+5G>A
|
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NM_000152.5(GAA):c.1076-11T>C
|
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|
NM_000152.5(GAA):c.1090C>T (p.Pro364Ser)
|
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|
NM_000152.5(GAA):c.1091C>T (p.Pro364Leu)
|
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|
NM_000152.5(GAA):c.1097A>C (p.Tyr366Ser)
|
rs2143854757
|
|
|
NM_000152.5(GAA):c.1103G>T (p.Gly368Val)
|
rs368244038
|
|
|
NM_000152.5(GAA):c.1106T>C (p.Leu369Pro)
|
rs2039149745
|
|
|
NM_000152.5(GAA):c.1118T>G (p.Leu373Arg)
|
rs2039150286
|
|
|
NM_000152.5(GAA):c.1129G>T (p.Gly377Cys)
|
rs752002666
|
|
|
NM_000152.5(GAA):c.1132T>A (p.Tyr378Asn)
|
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|
NM_000152.5(GAA):c.1135TCC[1] (p.Ser380del)
|
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|
NM_000152.5(GAA):c.1136C>A (p.Ser379Tyr)
|
rs377233099
|
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|
NM_000152.5(GAA):c.1136C>T (p.Ser379Phe)
|
rs377233099
|
|
|
NM_000152.5(GAA):c.1144G>A (p.Ala382Thr)
|
rs1193750279
|
|
|
NM_000152.5(GAA):c.1158G>T (p.Gln386His)
|
rs1400466814
|
|
|
NM_000152.5(GAA):c.115C>A (p.Pro39Thr)
|
rs759236536
|
|
|
NM_000152.5(GAA):c.1160T>C (p.Val387Ala)
|
|
|
|
NM_000152.5(GAA):c.1160TGG[1] (p.Val388del)
|
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|
NM_000152.5(GAA):c.1172T>A (p.Met391Lys)
|
|
|
|
NM_000152.5(GAA):c.1173G>A (p.Met391Ile)
|
rs2143855905
|
|
|
NM_000152.5(GAA):c.1178G>C (p.Arg393Thr)
|
|
|
|
NM_000152.5(GAA):c.1180G>A (p.Ala394Thr)
|
rs190889375
|
|
|
NM_000152.5(GAA):c.1184A>G (p.His395Arg)
|
rs775121651
|
|
|
NM_000152.5(GAA):c.118C>G (p.Arg40Gly)
|
rs767409395
|
|
|
NM_000152.5(GAA):c.1192C>A (p.Leu398Met)
|
rs369707231
|
|
|
NM_000152.5(GAA):c.1194+3G>T
|
rs368539333
|
|
|
NM_000152.5(GAA):c.1194+6T>C
|
rs1470004759
|
|
|
NM_000152.5(GAA):c.1228T>C (p.Ser410Pro)
|
rs2039157992
|
|
|
NM_000152.5(GAA):c.1232G>C (p.Arg411Pro)
|
rs372799904
|
|
|
NM_000152.5(GAA):c.1234_1236dup (p.Arg412dup)
|
rs2143857460
|
|
|
NM_000152.5(GAA):c.1240T>C (p.Phe414Leu)
|
rs886042630
|
|
|
NM_000152.5(GAA):c.1246T>G (p.Phe416Val)
|
|
|
|
NM_000152.5(GAA):c.1253A>G (p.Lys418Arg)
|
rs2039159106
|
|
|
NM_000152.5(GAA):c.1254G>A (p.Lys418=)
|
rs769131433
|
|
|
NM_000152.5(GAA):c.1256A>G (p.Asp419Gly)
|
rs1397577545
|
|
|
NM_000152.5(GAA):c.1267G>A (p.Asp423Asn)
|
|
|
|
NM_000152.5(GAA):c.1273C>A (p.Pro425Thr)
|
rs1283810246
|
|
|
NM_000152.5(GAA):c.1273C>T (p.Pro425Ser)
|
rs1283810246
|
|
|
NM_000152.5(GAA):c.1276G>A (p.Ala426Thr)
|
rs2143857881
|
|
|
NM_000152.5(GAA):c.1303G>A (p.Gly435Ser)
|
|
|
|
NM_000152.5(GAA):c.1315A>G (p.Met439Val)
|
|
|
|
NM_000152.5(GAA):c.1317G>A (p.Met439Ile)
|
rs991245388
|
|
|
NM_000152.5(GAA):c.1320G>A (p.Met440Ile)
|
|
|
|
NM_000152.5(GAA):c.1326+6T>C
|
rs1199225255
|
|
|
NM_000152.5(GAA):c.1326G>A (p.Val442=)
|
|
|
|
NM_000152.5(GAA):c.1327-7T>G
|
rs774490566
|
|
|
NM_000152.5(GAA):c.133T>G (p.Ser45Ala)
|
rs1322709296
|
|
|
NM_000152.5(GAA):c.1343G>T (p.Ser448Ile)
|
rs145712232
|
|
|
NM_000152.5(GAA):c.1345T>G (p.Ser449Ala)
|
|
|
|
NM_000152.5(GAA):c.134C>T (p.Ser45Phe)
|
rs1179395024
|
|
|
NM_000152.5(GAA):c.1358G>A (p.Gly453Glu)
|
rs2039191662
|
|
|
NM_000152.5(GAA):c.1370C>T (p.Pro457Leu)
|
rs2039191855
|
|
|
NM_000152.5(GAA):c.1372T>C (p.Tyr458His)
|
rs1567832012
|
|
|
NM_000152.5(GAA):c.1375G>T (p.Asp459Tyr)
|
rs535644999
|
|
|
NM_000152.5(GAA):c.1380G>C (p.Glu460Asp)
|
|
|
|
NM_000152.5(GAA):c.1382G>A (p.Gly461Asp)
|
rs1277491722
|
|
|
NM_000152.5(GAA):c.1390A>T (p.Arg464Trp)
|
rs2039193001
|
|
|
NM_000152.5(GAA):c.1392_1393delinsTT (p.Arg464_Gly465delinsSerTrp)
|
|
|
|
NM_000152.5(GAA):c.1393G>C (p.Gly465Arg)
|
|
|
|
NM_000152.5(GAA):c.1393G>T (p.Gly465Trp)
|
|
|
|
NM_000152.5(GAA):c.1396G>C (p.Val466Leu)
|
rs375006053
|
|
|
NM_000152.5(GAA):c.1402A>C (p.Ile468Leu)
|
rs886043148
|
|
|
NM_000152.5(GAA):c.1409A>G (p.Asn470Ser)
|
|
|
|
NM_000152.5(GAA):c.1410C>A (p.Asn470Lys)
|
rs886043068
|
|
|
NM_000152.5(GAA):c.1424C>T (p.Pro475Leu)
|
|
|
|
NM_000152.5(GAA):c.1426C>A (p.Leu476Met)
|
rs756613882
|
|
|
NM_000152.5(GAA):c.1431T>G (p.Ile477Met)
|
rs1598580369
|
|
|
NM_000152.5(GAA):c.1438-10C>G
|
rs1029231930
|
|
|
NM_000152.5(GAA):c.1438-7_1438-5del
|
rs764583466
|
|
|
NM_000152.5(GAA):c.1439T>A (p.Val480Glu)
|
|
|
|
NM_000152.5(GAA):c.1439T>C (p.Val480Ala)
|
rs1224298513
|
|
|
NM_000152.5(GAA):c.1454C>T (p.Thr485Ile)
|
rs2143872073
|
|
|
NM_000152.5(GAA):c.1456G>A (p.Ala486Thr)
|
rs1283045273
|
|
|
NM_000152.5(GAA):c.1457C>T (p.Ala486Val)
|
rs2039213698
|
|
|
NM_000152.5(GAA):c.1468T>C (p.Phe490Leu)
|
rs2143872278
|
|
|
NM_000152.5(GAA):c.1469T>G (p.Phe490Cys)
|
|
|
|
NM_000152.5(GAA):c.1472_1474del (p.Thr491del)
|
|
|
|
NM_000152.5(GAA):c.1484C>T (p.Ala495Val)
|
|
|
|
NM_000152.5(GAA):c.148G>A (p.Glu50Lys)
|
rs1555598609
|
|
|
NM_000152.5(GAA):c.1498G>A (p.Glu500Lys)
|
rs1473805095
|
|
|
NM_000152.5(GAA):c.1502A>G (p.Asp501Gly)
|
rs2143872652
|
|
|
NM_000152.5(GAA):c.1508T>C (p.Val503Ala)
|
|
|
|
NM_000152.5(GAA):c.1518C>G (p.Phe506Leu)
|
rs1464913441
|
|
|
NM_000152.5(GAA):c.1532C>T (p.Pro511Leu)
|
|
|
|
NM_000152.5(GAA):c.1536C>A (p.Phe512Leu)
|
rs143491365
|
|
|
NM_000152.5(GAA):c.1540G>A (p.Gly514Ser)
|
rs777571608
|
|
|
NM_000152.5(GAA):c.1546T>C (p.Trp516Arg)
|
|
|
|
NM_000152.5(GAA):c.1551+4A>C
|
|
|
|
NM_000152.5(GAA):c.1551+6T>C
|
|
|
|
NM_000152.5(GAA):c.1552-14_1552-1del
|
rs1567833173
|
|
|
NM_000152.5(GAA):c.1552-3C>T
|
rs375470378
|
|
|
NM_000152.5(GAA):c.1553_1555dup (p.Asp518_Met519insAsn)
|
rs2039221468
|
|
|
NM_000152.5(GAA):c.1559A>G (p.Asn520Ser)
|
rs1555600852
|
|
|
NM_000152.5(GAA):c.1568C>G (p.Ser523Cys)
|
rs2039222579
|
|
|
NM_000152.5(GAA):c.1572C>G (p.Asn524Lys)
|
rs1417304813
|
|
|
NM_000152.5(GAA):c.1576A>G (p.Ile526Val)
|
rs2039222806
|
|
|
NM_000152.5(GAA):c.1579A>G (p.Arg527Gly)
|
|
|
|
NM_000152.5(GAA):c.1580G>A (p.Arg527Lys)
|
|
|
|
NM_000152.5(GAA):c.1594G>C (p.Gly532Arg)
|
|
|
|
NM_000152.5(GAA):c.1594G>T (p.Gly532Cys)
|
rs773576381
|
|
|
NM_000152.5(GAA):c.159C>A (p.His53Gln)
|
|
|
|
NM_000152.5(GAA):c.1601C>G (p.Pro534Arg)
|
rs1039935633
|
|
|
NM_000152.5(GAA):c.1601C>T (p.Pro534Leu)
|
rs1039935633
|
|
|
NM_000152.5(GAA):c.1605C>A (p.Asn535Lys)
|
rs1351247900
|
|
|
NM_000152.5(GAA):c.1606A>G (p.Asn536Asp)
|
rs2039224225
|
|
|
NM_000152.5(GAA):c.1608T>G (p.Asn536Lys)
|
rs2039224372
|
|
|
NM_000152.5(GAA):c.1611G>T (p.Glu537Asp)
|
|
|
|
NM_000152.5(GAA):c.1619A>G (p.Asn540Ser)
|
rs2039224662
|
|
|
NM_000152.5(GAA):c.161C>T (p.Pro54Leu)
|
rs768898668
|
|
|
NM_000152.5(GAA):c.1625C>T (p.Pro542Leu)
|
rs1598582130
|
|
|
NM_000152.5(GAA):c.1628A>G (p.Tyr543Cys)
|
rs1160583761
|
|
|
NM_000152.5(GAA):c.1629_1630delinsTA (p.Val544Met)
|
rs1598582152
|
|
|
NM_000152.5(GAA):c.1631T>A (p.Val544Glu)
|
rs1567833361
|
|
|
NM_000152.5(GAA):c.1635T>A (p.Pro545=)
|
|
|
|
NM_000152.5(GAA):c.1637-10_1637-9delinsGA
|
rs2143882002
|
|
|
NM_000152.5(GAA):c.1637-12_1637-9del
|
|
|
|
NM_000152.5(GAA):c.1638_1639delinsCA (p.Val547Met)
|
|
|
|
NM_000152.5(GAA):c.1642G>T (p.Val548Phe)
|
rs1567834141
|
|
|
NM_000152.5(GAA):c.1646G>C (p.Gly549Ala)
|
rs2039246325
|
|
|
NM_000152.5(GAA):c.1658A>G (p.Gln553Arg)
|
rs746401921
|
|
|
NM_000152.5(GAA):c.166C>A (p.His56Asn)
|
|
|
|
NM_000152.5(GAA):c.1679C>T (p.Ser560Phe)
|
rs576056187
|
|
|
NM_000152.5(GAA):c.167A>T (p.His56Leu)
|
rs113740017
|
|
|
NM_000152.5(GAA):c.1692T>G (p.Phe564Leu)
|
rs886043997
|
|
|
NM_000152.5(GAA):c.1693C>T (p.Leu565Phe)
|
|
|
|
NM_000152.5(GAA):c.1699A>C (p.Thr567Pro)
|
rs543222774
|
|
|
NM_000152.5(GAA):c.16C>T (p.Pro6Ser)
|
rs1424116613
|
|
|
NM_000152.5(GAA):c.1711C>G (p.Leu571Val)
|
|
|
|
NM_000152.5(GAA):c.1715A>C (p.His572Pro)
|
rs1424756308
|
|
|
NM_000152.5(GAA):c.1719C>A (p.Asn573Lys)
|
rs1175728529
|
|
|
NM_000152.5(GAA):c.1727G>A (p.Gly576Asp)
|
rs1555601255
|
|
|
NM_000152.5(GAA):c.1739C>T (p.Ala580Val)
|
rs909561836
|
|
|
NM_000152.5(GAA):c.1741A>G (p.Ile581Val)
|
rs559258217
|
|
|
NM_000152.5(GAA):c.1743C>G (p.Ile581Met)
|
rs527970795
|
|
|
NM_000152.5(GAA):c.1744G>A (p.Ala582Thr)
|
rs369098202
|
|
|
NM_000152.5(GAA):c.1744G>C (p.Ala582Pro)
|
|
|
|
NM_000152.5(GAA):c.1750C>A (p.His584Asn)
|
rs780475756
|
|
|
NM_000152.5(GAA):c.1753A>T (p.Arg585Trp)
|
rs1555601273
|
|
|
NM_000152.5(GAA):c.1754+6G>C
|
rs1282791373
|
|
|
NM_000152.5(GAA):c.1762G>A (p.Val588Met)
|
rs370138790
|
|
|
NM_000152.5(GAA):c.1794C>G (p.Ile598Met)
|
rs2039262568
|
|
|
NM_000152.5(GAA):c.17C>A (p.Pro6Gln)
|
rs771409180
|
|
|
NM_000152.5(GAA):c.1805C>T (p.Thr602Ile)
|
|
|
|
NM_000152.5(GAA):c.1817A>C (p.His606Pro)
|
rs1311698018
|
|
|
NM_000152.5(GAA):c.1822C>G (p.Arg608Gly)
|
|
|
|
NM_000152.5(GAA):c.1823G>T (p.Arg608Leu)
|
rs377126280
|
|
|
NM_000152.5(GAA):c.1825T>C (p.Tyr609His)
|
|
|
|
NM_000152.5(GAA):c.1826A>T (p.Tyr609Phe)
|
rs2039264297
|
|
|
NM_000152.5(GAA):c.1837T>C (p.Trp613Arg)
|
|
|
|
NM_000152.5(GAA):c.1867C>G (p.Gln623Glu)
|
rs2143889579
|
|
|
NM_000152.5(GAA):c.1869G>T (p.Gln623His)
|
|
|
|
NM_000152.5(GAA):c.1870C>T (p.Leu624Phe)
|
rs764377962
|
|
|
NM_000152.5(GAA):c.1873G>A (p.Ala625Thr)
|
|
|
|
NM_000152.5(GAA):c.1873G>T (p.Ala625Ser)
|
rs757445420
|
|
|
NM_000152.5(GAA):c.1876T>C (p.Ser626Pro)
|
rs1235035841
|
|
|
NM_000152.5(GAA):c.1880C>G (p.Ser627Cys)
|
|
|
|
NM_000152.5(GAA):c.1882G>A (p.Val628Met)
|
rs745911962
|
|
|
NM_000152.5(GAA):c.1882G>C (p.Val628Leu)
|
|
|
|
NM_000152.5(GAA):c.1885C>T (p.Pro629Ser)
|
|
|
|
NM_000152.5(GAA):c.1888+5G>C
|
|
|
|
NM_000152.5(GAA):c.1888+6_1888+14del
|
rs2039268703
|
|
|
NM_000152.5(GAA):c.1895T>C (p.Leu632Pro)
|
|
|
|
NM_000152.5(GAA):c.1898A>C (p.Gln633Pro)
|
rs2039274878
|
|
|
NM_000152.5(GAA):c.1919C>T (p.Pro640Leu)
|
|
|
|
NM_000152.5(GAA):c.1926C>A (p.Val642=)
|
rs1346499760
|
|
|
NM_000152.5(GAA):c.1947C>A (p.Phe649Leu)
|
rs770248553
|
|
|
NM_000152.5(GAA):c.1948C>A (p.Leu650Met)
|
rs1359573192
|
|
|
NM_000152.5(GAA):c.194C>A (p.Pro65His)
|
rs1482530928
|
|
|
NM_000152.5(GAA):c.194C>T (p.Pro65Leu)
|
|
|
|
NM_000152.5(GAA):c.1952G>A (p.Gly651Asp)
|
rs939350425
|
|
|
NM_000152.5(GAA):c.1964A>G (p.Glu655Gly)
|
rs1269689890
|
|
|
NM_000152.5(GAA):c.1968G>C (p.Glu656Asp)
|
|
|
|
NM_000152.5(GAA):c.1972T>G (p.Cys658Gly)
|
rs2039278476
|
|
|
NM_000152.5(GAA):c.1975G>C (p.Val659Leu)
|
rs2143892513
|
|
|
NM_000152.5(GAA):c.1985C>T (p.Thr662Ile)
|
rs2039278795
|
|
|
NM_000152.5(GAA):c.1996G>A (p.Ala666Thr)
|
rs916566117
|
|
|
NM_000152.5(GAA):c.2005C>G (p.Pro669Ala)
|
|
|
|
NM_000152.5(GAA):c.2018A>C (p.Asn673Thr)
|
rs1598585837
|
|
|
NM_000152.5(GAA):c.2035A>G (p.Ser679Gly)
|
rs1567835990
|
|
|
NM_000152.5(GAA):c.2040+19_2040+20inv
|
|
|
|
NM_000152.5(GAA):c.2040+4G>C
|
rs1598585909
|
|
|
NM_000152.5(GAA):c.2041C>T (p.Pro681Ser)
|
rs2039286160
|
|
|
NM_000152.5(GAA):c.2045A>G (p.Gln682Arg)
|
rs1484576607
|
|
|
NM_000152.5(GAA):c.2057_2058delinsAA (p.Ser686Lys)
|
rs1598586309
|
|
|
NM_000152.5(GAA):c.205C>G (p.Gln69Glu)
|
rs370174315
|
|
|
NM_000152.5(GAA):c.2064C>A (p.Ser688Arg)
|
|
|
|
NM_000152.5(GAA):c.2077C>A (p.Gln693Lys)
|
rs2039287681
|
|
|
NM_000152.5(GAA):c.2084T>C (p.Met695Thr)
|
rs2143895805
|
|
|
NM_000152.5(GAA):c.2093C>T (p.Ala698Val)
|
rs1001458871
|
|
|
NM_000152.5(GAA):c.2099C>T (p.Thr700Ile)
|
rs2039288481
|
|
|
NM_000152.5(GAA):c.209C>A (p.Ala70Glu)
|
rs775376321
|
|
|
NM_000152.5(GAA):c.2101C>G (p.Leu701Val)
|
|
|
|
NM_000152.5(GAA):c.2108A>G (p.Tyr703Cys)
|
|
|
|
NM_000152.5(GAA):c.2110G>A (p.Ala704Thr)
|
rs375681364
|
|
|
NM_000152.5(GAA):c.2110G>C (p.Ala704Pro)
|
rs375681364
|
|
|
NM_000152.5(GAA):c.2110G>T (p.Ala704Ser)
|
rs375681364
|
|
|
NM_000152.5(GAA):c.2120C>T (p.Pro707Leu)
|
rs139009731
|
|
|
NM_000152.5(GAA):c.2122C>A (p.His708Asn)
|
rs149916476
|
|
|
NM_000152.5(GAA):c.2122C>G (p.His708Asp)
|
rs149916476
|
|
|
NM_000152.5(GAA):c.2124C>G (p.His708Gln)
|
rs751187069
|
|
|
NM_000152.5(GAA):c.212A>G (p.His71Arg)
|
rs760205477
|
|
|
NM_000152.5(GAA):c.2132_2133inv (p.Thr711Met)
|
|
|
|
NM_000152.5(GAA):c.2140C>T (p.His714Tyr)
|
rs1332887976
|
|
|
NM_000152.5(GAA):c.2152G>C (p.Val718Leu)
|
|
|
|
NM_000152.5(GAA):c.2155G>A (p.Ala719Thr)
|
rs143324027
|
|
|
NM_000152.5(GAA):c.2156C>T (p.Ala719Val)
|
rs146762316
|
|
|
NM_000152.5(GAA):c.2170G>A (p.Ala724Thr)
|
rs1393059819
|
|
|
NM_000152.5(GAA):c.217G>T (p.Gly73Cys)
|
rs760644219
|
|
|
NM_000152.5(GAA):c.2189+3G>C
|
rs2143897458
|
|
|
NM_000152.5(GAA):c.2190-10C>A
|
rs1567838707
|
|
|
NM_000152.5(GAA):c.2203T>A (p.Ser735Thr)
|
rs1377188867
|
|
|
NM_000152.5(GAA):c.2204C>G (p.Ser735Cys)
|
|
|
|
NM_000152.5(GAA):c.2204C>T (p.Ser735Phe)
|
|
|
|
NM_000152.5(GAA):c.2210C>T (p.Thr737Ile)
|
|
|
|
NM_000152.5(GAA):c.2215A>G (p.Thr739Ala)
|
rs578245757
|
|
|
NM_000152.5(GAA):c.2218G>A (p.Val740Met)
|
rs752122499
|
|
|
NM_000152.5(GAA):c.2223C>G (p.Asp741Glu)
|
rs767773929
|
|
|
NM_000152.5(GAA):c.2230C>T (p.Leu744Phe)
|
rs1347832021
|
|
|
NM_000152.5(GAA):c.2239G>T (p.Gly747Trp)
|
rs778981088
|
|
|
NM_000152.5(GAA):c.223C>T (p.Pro75Ser)
|
rs755561471
|
|
|
NM_000152.5(GAA):c.2242G>A (p.Glu748Lys)
|
rs1057516363
|
|
|
NM_000152.5(GAA):c.2266C>T (p.Leu756Phe)
|
|
|
|
NM_000152.5(GAA):c.2270A>G (p.Gln757Arg)
|
rs768165130
|
|
|
NM_000152.5(GAA):c.2280G>T (p.Lys760Asn)
|
rs2143919634
|
|
|
NM_000152.5(GAA):c.2294G>T (p.Gly765Val)
|
rs1292367136
|
|
|
NM_000152.5(GAA):c.229G>T (p.Ala77Ser)
|
rs781365881
|
|
|
NM_000152.5(GAA):c.2306T>C (p.Leu769Ser)
|
rs2039369551
|
|
|
NM_000152.5(GAA):c.2307G>C (p.Leu769Phe)
|
rs372800172
|
|
|
NM_000152.5(GAA):c.2327A>G (p.Gln776Arg)
|
|
|
|
NM_000152.5(GAA):c.2330_2331+4dup
|
rs762245732
|
|
|
NM_000152.5(GAA):c.2331+4A>C
|
rs2039371081
|
|
|
NM_000152.5(GAA):c.2331+6T>G
|
|
|
|
NM_000152.5(GAA):c.2338G>C (p.Val780Leu)
|
rs1126690
|
|
|
NM_000152.5(GAA):c.2341G>A (p.Glu781Lys)
|
|
|
|
NM_000152.5(GAA):c.2345C>T (p.Ala782Val)
|
rs994916972
|
|
|
NM_000152.5(GAA):c.2347C>T (p.Leu783Phe)
|
rs762310752
|
|
|
NM_000152.5(GAA):c.2354G>T (p.Ser785Ile)
|
|
|
|
NM_000152.5(GAA):c.2359C>A (p.Pro787Thr)
|
|
|
|
NM_000152.5(GAA):c.235C>T (p.Pro79Ser)
|
rs756342288
|
|
|
NM_000152.5(GAA):c.2362C>A (p.Pro788Thr)
|
rs2039384789
|
|
|
NM_000152.5(GAA):c.2362C>T (p.Pro788Ser)
|
|
|
|
NM_000152.5(GAA):c.2363C>A (p.Pro788His)
|
|
|
|
NM_000152.5(GAA):c.2366C>A (p.Pro789Gln)
|
rs773629231
|
|
|
NM_000152.5(GAA):c.2368C>T (p.Pro790Ser)
|
rs776111131
|
|
|
NM_000152.5(GAA):c.2380C>T (p.Arg794Cys)
|
|
|
|
NM_000152.5(GAA):c.2381G>C (p.Arg794Pro)
|
rs200505871
|
|
|
NM_000152.5(GAA):c.2389G>A (p.Ala797Thr)
|
rs539031621
|
|
|
NM_000152.5(GAA):c.2405G>A (p.Gly802Glu)
|
|
|
|
NM_000152.5(GAA):c.2410T>C (p.Trp804Arg)
|
rs2143925115
|
|
|
NM_000152.5(GAA):c.2416A>C (p.Thr806Pro)
|
|
|
|
NM_000152.5(GAA):c.2428C>T (p.Pro810Ser)
|
rs774470696
|
|
|
NM_000152.5(GAA):c.2431C>G (p.Leu811Val)
|
|
|
|
NM_000152.5(GAA):c.2444A>C (p.Asn815Thr)
|
rs1365945556
|
|
|
NM_000152.5(GAA):c.244T>C (p.Cys82Arg)
|
rs1252748852
|
|
|
NM_000152.5(GAA):c.2453T>C (p.Leu818Pro)
|
|
|
|
NM_000152.5(GAA):c.2459_2461del (p.Ala820del)
|
rs1182634884
|
|
|
NM_000152.5(GAA):c.2463G>C (p.Gly821=)
|
|
|
|
NM_000152.5(GAA):c.2467A>G (p.Ile823Val)
|
|
|
|
NM_000152.5(GAA):c.2467A>T (p.Ile823Phe)
|
rs758038288
|
|
|
NM_000152.5(GAA):c.2474C>T (p.Pro825Leu)
|
rs886042703
|
|
|
NM_000152.5(GAA):c.2480A>G (p.Gln827Arg)
|
rs1555602967
|
|
|
NM_000152.5(GAA):c.2481+4C>G
|
|
|
|
NM_000152.5(GAA):c.2481+5C>G
|
rs1598592432
|
|
|
NM_000152.5(GAA):c.2481+6T>C
|
rs1479232207
|
|
|
NM_000152.5(GAA):c.2486C>G (p.Pro829Arg)
|
rs778187006
|
|
|
NM_000152.5(GAA):c.2488G>C (p.Gly830Arg)
|
rs1598593166
|
|
|
NM_000152.5(GAA):c.2489G>C (p.Gly830Ala)
|
|
|
|
NM_000152.5(GAA):c.2495C>T (p.Thr832Ile)
|
rs1555603057
|
|
|
NM_000152.5(GAA):c.2498C>T (p.Thr833Ile)
|
|
|
|
NM_000152.5(GAA):c.2505G>C (p.Glu835Asp)
|
rs771259598
|
|
|
NM_000152.5(GAA):c.2515C>A (p.Gln839Lys)
|
rs920085419
|
|
|
NM_000152.5(GAA):c.2518C>G (p.Pro840Ala)
|
rs930247743
|
|
|
NM_000152.5(GAA):c.2522T>C (p.Met841Thr)
|
rs758016479
|
|
|
NM_000152.5(GAA):c.2523G>C (p.Met841Ile)
|
rs1555603087
|
|
|
NM_000152.5(GAA):c.2525C>T (p.Ala842Val)
|
rs2143929732
|
|
|
NM_000152.5(GAA):c.2527C>G (p.Leu843Val)
|
rs2143929760
|
|
|
NM_000152.5(GAA):c.2528T>C (p.Leu843Pro)
|
rs775524898
|
|
|
NM_000152.5(GAA):c.2540T>G (p.Leu847Arg)
|
rs1555603096
|
|
|
NM_000152.5(GAA):c.2552G>A (p.Gly851Glu)
|
rs764943318
|
|
|
NM_000152.5(GAA):c.2555A>G (p.Glu852Gly)
|
rs2039404008
|
|
|
NM_000152.5(GAA):c.2566G>A (p.Glu856Lys)
|
rs1039438307
|
|
|
NM_000152.5(GAA):c.2581G>C (p.Asp861His)
|
|
|
|
NM_000152.5(GAA):c.2597A>C (p.Glu866Ala)
|
rs951742543
|
|
|
NM_000152.5(GAA):c.259A>C (p.Asn87His)
|
|
|
|
NM_000152.5(GAA):c.261C>G (p.Asn87Lys)
|
rs1052555748
|
|
|
NM_000152.5(GAA):c.2637G>A (p.Leu879=)
|
rs2039406388
|
|
|
NM_000152.5(GAA):c.2645A>G (p.Asn882Ser)
|
|
|
|
NM_000152.5(GAA):c.2646+3G>A
|
|
|
|
NM_000152.5(GAA):c.2646+4A>C
|
|
|
|
NM_000152.5(GAA):c.2646+4A>G
|
|
|
|
NM_000152.5(GAA):c.264C>G (p.Ser88Arg)
|
|
|
|
NM_000152.5(GAA):c.2672G>C (p.Arg891Pro)
|
rs199524847
|
|
|
NM_000152.5(GAA):c.2672G>T (p.Arg891Leu)
|
rs199524847
|
|
|
NM_000152.5(GAA):c.2678C>T (p.Thr893Ile)
|
|
|
|
NM_000152.5(GAA):c.2684A>G (p.Glu895Gly)
|
|
|
|
NM_000152.5(GAA):c.268T>A (p.Phe90Ile)
|
rs755402236
|
|
|
NM_000152.5(GAA):c.2696T>G (p.Leu899Arg)
|
|
|
|
NM_000152.5(GAA):c.26C>T (p.Ser9Phe)
|
rs1598568879
|
|
|
NM_000152.5(GAA):c.2705A>G (p.Gln902Arg)
|
|
|
|
NM_000152.5(GAA):c.2714C>G (p.Thr905Ser)
|
|
|
|
NM_000152.5(GAA):c.271G>T (p.Asp91Tyr)
|
rs1800299
|
|
|
NM_000152.5(GAA):c.2722G>A (p.Gly908Ser)
|
|
|
|
NM_000152.5(GAA):c.2722G>T (p.Gly908Cys)
|
rs2039415739
|
|
|
NM_000152.5(GAA):c.2723G>T (p.Gly908Val)
|
rs2143933949
|
|
|
NM_000152.5(GAA):c.2729C>T (p.Ala910Val)
|
|
|
|
NM_000152.5(GAA):c.2732C>T (p.Thr911Met)
|
rs1027032995
|
|
|
NM_000152.5(GAA):c.2741A>C (p.Gln914Pro)
|
|
|
|
NM_000152.5(GAA):c.2745G>C (p.Gln915His)
|
rs2143934282
|
|
|
NM_000152.5(GAA):c.2753C>T (p.Ser918Phe)
|
rs773667152
|
|
|
NM_000152.5(GAA):c.2758G>T (p.Gly920Cys)
|
|
|
|
NM_000152.5(GAA):c.2759G>A (p.Gly920Asp)
|
|
|
|
NM_000152.5(GAA):c.2761G>T (p.Val921Phe)
|
rs1555603286
|
|
|
NM_000152.5(GAA):c.2776T>C (p.Phe926Leu)
|
rs1555603301
|
|
|
NM_000152.5(GAA):c.2788C>A (p.Pro930Thr)
|
rs1598594483
|
|
|
NM_000152.5(GAA):c.2791G>A (p.Asp931Asn)
|
rs756199247
|
|
|
NM_000152.5(GAA):c.2798A>G (p.Lys933Arg)
|
|
|
|
NM_000152.5(GAA):c.2799+2C>T
|
rs1555603318
|
|
|
NM_000152.5(GAA):c.2799+4A>T
|
|
|
|
NM_000152.5(GAA):c.2800-1G>A
|
|
|
|
NM_000152.5(GAA):c.2829G>A (p.Met943Ile)
|
rs2039430526
|
|
|
NM_000152.5(GAA):c.2855G>T (p.Cys952Phe)
|
|
|
|
NM_000152.5(GAA):c.2857T>C (p.Ter953Gln)
|
|
|
|
NM_000152.5(GAA):c.289G>A (p.Ala97Thr)
|
rs2143827017
|
|
|
NM_000152.5(GAA):c.298C>G (p.Gln100Glu)
|
|
|
|
NM_000152.5(GAA):c.29A>T (p.His10Leu)
|
|
|
|
NM_000152.5(GAA):c.310G>A (p.Glu104Lys)
|
rs201902338
|
|
|
NM_000152.5(GAA):c.310G>C (p.Glu104Gln)
|
rs201902338
|
|
|
NM_000152.5(GAA):c.311_313del (p.Glu104del)
|
rs2039038181
|
|
|
NM_000152.5(GAA):c.318_323dup (p.Gly107_Cys108dup)
|
rs2143827403
|
|
|
NM_000152.5(GAA):c.31C>G (p.Arg11Gly)
|
rs772394815
|
|
|
NM_000152.5(GAA):c.32G>T (p.Arg11Leu)
|
rs138812846
|
|
|
NM_000152.5(GAA):c.341A>G (p.Lys114Arg)
|
|
|
|
NM_000152.5(GAA):c.347G>A (p.Gly116Glu)
|
rs754285414
|
|
|
NM_000152.5(GAA):c.347G>C (p.Gly116Ala)
|
rs754285414
|
|
|
NM_000152.5(GAA):c.355G>A (p.Gly119Arg)
|
rs1555598802
|
|
|
NM_000152.5(GAA):c.368G>T (p.Gly123Val)
|
rs138034915
|
|
|
NM_000152.5(GAA):c.383T>C (p.Phe128Ser)
|
rs2039041547
|
|
|
NM_000152.5(GAA):c.396C>G (p.Ser132Arg)
|
rs2143828304
|
|
|
NM_000152.5(GAA):c.407A>G (p.Tyr136Cys)
|
|
|
|
NM_000152.5(GAA):c.415G>A (p.Glu139Lys)
|
|
|
|
NM_000152.5(GAA):c.419A>T (p.Asn140Ile)
|
|
|
|
NM_000152.5(GAA):c.41C>T (p.Ala14Val)
|
rs1221096819
|
|
|
NM_000152.5(GAA):c.427T>G (p.Ser143Ala)
|
rs1423110429
|
|
|
NM_000152.5(GAA):c.433G>A (p.Glu145Lys)
|
rs2143828679
|
|
|
NM_000152.5(GAA):c.446C>A (p.Thr149Lys)
|
|
|
|
NM_000152.5(GAA):c.448G>A (p.Ala150Thr)
|
rs991177340
|
|
|
NM_000152.5(GAA):c.452C>T (p.Thr151Ile)
|
rs1567826289
|
|
|
NM_000152.5(GAA):c.460_465del (p.Arg154_Thr155del)
|
rs1555598888
|
|
|
NM_000152.5(GAA):c.466A>T (p.Thr156Ser)
|
rs1598570529
|
|
|
NM_000152.5(GAA):c.467C>A (p.Thr156Asn)
|
rs1394741472
|
|
|
NM_000152.5(GAA):c.467C>T (p.Thr156Ile)
|
rs1394741472
|
|
|
NM_000152.5(GAA):c.482C>A (p.Pro161His)
|
|
|
|
NM_000152.5(GAA):c.485A>G (p.Lys162Arg)
|
|
|
|
NM_000152.5(GAA):c.487G>A (p.Asp163Asn)
|
rs1204103099
|
|
|
NM_000152.5(GAA):c.497C>T (p.Thr166Ile)
|
|
|
|
NM_000152.5(GAA):c.49G>T (p.Ala17Ser)
|
rs751425831
|
|
|
NM_000152.5(GAA):c.503G>C (p.Arg168Pro)
|
rs376685205
|
|
|
NM_000152.5(GAA):c.515T>C (p.Met172Thr)
|
|
|
|
NM_000152.5(GAA):c.52C>T (p.Leu18Phe)
|
|
|
|
NM_000152.5(GAA):c.545C>G (p.Thr182Arg)
|
rs200524747
|
|
|
NM_000152.5(GAA):c.545C>T (p.Thr182Met)
|
rs200524747
|
|
|
NM_000152.5(GAA):c.546+5G>A
|
|
|
|
NM_000152.5(GAA):c.547-5_547-4delinsGG
|
|
|
|
NM_000152.5(GAA):c.547A>G (p.Ile183Val)
|
|
|
|
NM_000152.5(GAA):c.54C>T (p.Leu18=)
|
rs886053542
|
|
|
NM_000152.5(GAA):c.557C>A (p.Pro186Gln)
|
|
|
|
NM_000152.5(GAA):c.566G>A (p.Arg189Lys)
|
rs1598571878
|
|
|
NM_000152.5(GAA):c.571T>G (p.Tyr191Asp)
|
rs149295512
|
|
|
NM_000152.5(GAA):c.572A>G (p.Tyr191Cys)
|
|
|
|
NM_000152.5(GAA):c.583T>G (p.Leu195Val)
|
rs1323831512
|
|
|
NM_000152.5(GAA):c.58T>A (p.Ser20Thr)
|
|
|
|
NM_000152.5(GAA):c.590C>A (p.Thr197Asn)
|
rs761890037
|
|
|
NM_000152.5(GAA):c.590C>T (p.Thr197Ile)
|
rs761890037
|
|
|
NM_000152.5(GAA):c.593C>A (p.Pro198Gln)
|
rs765075888
|
|
|
NM_000152.5(GAA):c.593C>T (p.Pro198Leu)
|
|
|
|
NM_000152.5(GAA):c.595_596inv (p.His199Cys)
|
|
|
|
NM_000152.5(GAA):c.596A>T (p.His199Leu)
|
|
|
|
NM_000152.5(GAA):c.598G>T (p.Val200Phe)
|
|
|
|
NM_000152.5(GAA):c.599T>A (p.Val200Asp)
|
|
|
|
NM_000152.5(GAA):c.59C>G (p.Ser20Cys)
|
rs752449306
|
|
|
NM_000152.5(GAA):c.5G>C (p.Gly2Ala)
|
rs1245992455
|
|
|
NM_000152.5(GAA):c.613C>G (p.Pro205Ala)
|
|
|
|
NM_000152.5(GAA):c.613C>T (p.Pro205Ser)
|
|
|
|
NM_000152.5(GAA):c.616T>C (p.Ser206Pro)
|
|
|
|
NM_000152.5(GAA):c.619C>T (p.Pro207Ser)
|
|
|
|
NM_000152.5(GAA):c.623T>C (p.Leu208Pro)
|
rs2039071572
|
|
|
NM_000152.5(GAA):c.626A>G (p.Tyr209Cys)
|
|
|
|
NM_000152.5(GAA):c.637T>C (p.Phe213Leu)
|
|
|
|
NM_000152.5(GAA):c.649C>T (p.Pro217Ser)
|
rs1567827215
|
|
|
NM_000152.5(GAA):c.663C>G (p.Ile221Met)
|
rs142878958
|
|
|
NM_000152.5(GAA):c.667C>T (p.Arg223Cys)
|
rs886043961
|
|
|
NM_000152.5(GAA):c.667_668delinsTA (p.Arg223Tyr)
|
rs2143834814
|
|
|
NM_000152.5(GAA):c.686G>C (p.Arg229Pro)
|
rs776509432
|
|
|
NM_000152.5(GAA):c.688G>C (p.Val230Leu)
|
rs145866792
|
|
|
NM_000152.5(GAA):c.68C>T (p.Thr23Ile)
|
rs2039027538
|
|
|
NM_000152.5(GAA):c.693-5C>G
|
rs763538104
|
|
|
NM_000152.5(GAA):c.703A>G (p.Thr235Ala)
|
rs781731240
|
|
|
NM_000152.5(GAA):c.712C>T (p.Pro238Ser)
|
rs1294294268
|
|
|
NM_000152.5(GAA):c.716T>C (p.Leu239Pro)
|
rs2143845990
|
|
|
NM_000152.5(GAA):c.725C>T (p.Ala242Val)
|
rs745861849
|
|
|
NM_000152.5(GAA):c.733T>G (p.Phe245Val)
|
|
|
|
NM_000152.5(GAA):c.737T>G (p.Leu246Arg)
|
rs1555599608
|
|
|
NM_000152.5(GAA):c.752C>G (p.Ser251Trp)
|
|
|
|
NM_000152.5(GAA):c.757C>T (p.Pro253Ser)
|
rs2143846362
|
|
|
NM_000152.5(GAA):c.769A>G (p.Ile257Val)
|
rs199674786
|
|
|
NM_000152.5(GAA):c.775G>A (p.Gly259Ser)
|
rs2143846660
|
|
|
NM_000152.5(GAA):c.77T>G (p.Leu26Arg)
|
rs1385098269
|
|
|
NM_000152.5(GAA):c.781G>C (p.Ala261Pro)
|
rs543360994
|
|
|
NM_000152.5(GAA):c.782C>T (p.Ala261Val)
|
rs2143846719
|
|
|
NM_000152.5(GAA):c.787C>T (p.His263Tyr)
|
rs1555599660
|
|
|
NM_000152.5(GAA):c.790C>T (p.Leu264Phe)
|
|
|
|
NM_000152.5(GAA):c.794G>A (p.Ser265Asn)
|
rs772002851
|
|
|
NM_000152.5(GAA):c.809G>A (p.Ser270Asn)
|
rs1429834723
|
|
|
NM_000152.5(GAA):c.816C>G (p.Ser272Arg)
|
|
|
|
NM_000152.5(GAA):c.821C>T (p.Thr274Ile)
|
|
|
|
NM_000152.5(GAA):c.830C>T (p.Thr277Ile)
|
rs1598575278
|
|
|
NM_000152.5(GAA):c.840_842dup (p.Arg281dup)
|
rs2039123030
|
|
|
NM_000152.5(GAA):c.851C>A (p.Ala284Glu)
|
|
|
|
NM_000152.5(GAA):c.851C>T (p.Ala284Val)
|
rs147569830
|
|
|
NM_000152.5(GAA):c.858+4C>G
|
rs886042706
|
|
|
NM_000152.5(GAA):c.858+5A>G
|
rs2039124887
|
|
|
NM_000152.5(GAA):c.859-10C>T
|
rs2143848802
|
|
|
NM_000152.5(GAA):c.859-3C>T
|
rs1356743231
|
|
|
NM_000152.5(GAA):c.859-8T>G
|
rs2143848824
|
|
|
NM_000152.5(GAA):c.866C>A (p.Ala289Glu)
|
|
|
|
NM_000152.5(GAA):c.883C>A (p.His295Asn)
|
rs751639773
|
|
|
NM_000152.5(GAA):c.883C>T (p.His295Tyr)
|
rs751639773
|
|
|
NM_000152.5(GAA):c.899C>A (p.Ala300Glu)
|
rs1032949450
|
|
|
NM_000152.5(GAA):c.8T>C (p.Val3Ala)
|
rs1037603957
|
|
|
NM_000152.5(GAA):c.924C>A (p.His308Gln)
|
rs370105640
|
|
|
NM_000152.5(GAA):c.928G>A (p.Val310Met)
|
|
|
|
NM_000152.5(GAA):c.928G>T (p.Val310Leu)
|
rs941586376
|
|
|
NM_000152.5(GAA):c.93_95del (p.Leu32del)
|
rs1278892703
|
|
|
NM_000152.5(GAA):c.954G>A (p.Met318Ile)
|
rs2143850104
|
|
|
NM_000152.5(GAA):c.955+5G>A
|
rs759508507
|
|
|
NM_000152.5(GAA):c.955G>A (p.Asp319Asn)
|
rs1359009455
|
|
|
NM_000152.5(GAA):c.956-3C>T
|
rs1421879461
|
|
|
NM_000152.5(GAA):c.956-8C>A
|
rs369149976
|
|
|
NM_000152.5(GAA):c.956A>G (p.Asp319Gly)
|
|
|
|
NM_000152.5(GAA):c.958_959delinsAG (p.Val320Arg)
|
|
|
|
NM_000152.5(GAA):c.960G>A (p.Val320=)
|
rs2143852588
|
|
|
NM_000152.5(GAA):c.961G>A (p.Val321Ile)
|
rs895612400
|
|
|
NM_000152.5(GAA):c.961G>T (p.Val321Phe)
|
|
|
|
NM_000152.5(GAA):c.971C>G (p.Pro324Arg)
|
|
|
|
NM_000152.5(GAA):c.974G>A (p.Ser325Asn)
|
rs905633601
|
|
|
NM_000152.5(GAA):c.976C>T (p.Pro326Ser)
|
rs2039142344
|
|
|
NM_000152.5(GAA):c.982C>T (p.Leu328Phe)
|
rs1555599956
|
|
|
NM_000152.5(GAA):c.98A>G (p.His33Arg)
|
rs773479616
|
|
|
NM_000182.5(HADHA):c.1039G>A (p.Val347Ile)
|
|
|
|
NM_000182.5(HADHA):c.1049A>G (p.Lys350Arg)
|
rs757845324
|
|
|
NM_000182.5(HADHA):c.1129G>A (p.Ala377Thr)
|
|
|
|
NM_000182.5(HADHA):c.1162A>T (p.Ile388Leu)
|
rs370054250
|
|
|
NM_000182.5(HADHA):c.1199G>C (p.Gly400Ala)
|
|
|
|
NM_000182.5(HADHA):c.1234G>T (p.Val412Leu)
|
rs770219903
|
|
|
NM_000182.5(HADHA):c.130G>A (p.Gly44Arg)
|
|
|
|
NM_000182.5(HADHA):c.134T>G (p.Val45Gly)
|
|
|
|
NM_000182.5(HADHA):c.1393-3C>T
|
|
|
|
NM_000182.5(HADHA):c.1393G>C (p.Val465Leu)
|
rs1226499517
|
|
|
NM_000182.5(HADHA):c.13C>T (p.Arg5Trp)
|
|
|
|
NM_000182.5(HADHA):c.1432G>C (p.Ala478Pro)
|
rs1669713015
|
|
|
NM_000182.5(HADHA):c.1480-139C>G
|
|
|
|
NM_000182.5(HADHA):c.1480-3C>T
|
|
|
|
NM_000182.5(HADHA):c.1538C>T (p.Thr513Met)
|
|
|
|
NM_000182.5(HADHA):c.1618A>G (p.Lys540Glu)
|
|
|
|
NM_000182.5(HADHA):c.161T>G (p.Ile54Ser)
|
rs2147785483
|
|
|
NM_000182.5(HADHA):c.1652T>G (p.Leu551Arg)
|
|
|
|
NM_000182.5(HADHA):c.1667C>G (p.Ser556Cys)
|
rs2147753043
|
|
|
NM_000182.5(HADHA):c.16G>C (p.Ala6Pro)
|
rs150565988
|
|
|
NM_000182.5(HADHA):c.1729A>T (p.Ser577Cys)
|
|
|
|
NM_000182.5(HADHA):c.173A>G (p.Asn58Ser)
|
|
|
|
NM_000182.5(HADHA):c.1745T>C (p.Val582Ala)
|
rs1574602341
|
|
|
NM_000182.5(HADHA):c.1772T>G (p.Val591Gly)
|
rs1574602310
|
|
|
NM_000182.5(HADHA):c.1801G>A (p.Glu601Lys)
|
|
|
|
NM_000182.5(HADHA):c.1808T>C (p.Leu603Pro)
|
|
|
|
NM_000182.5(HADHA):c.1812C>T (p.Gly604=)
|
|
|
|
NM_000182.5(HADHA):c.1867G>A (p.Val623Met)
|
|
|
|
NM_000182.5(HADHA):c.1888C>G (p.Arg630Gly)
|
|
|
|
NM_000182.5(HADHA):c.1931A>G (p.Lys644Arg)
|
|
|
|
NM_000182.5(HADHA):c.1961G>A (p.Ser654Asn)
|
|
|
|
NM_000182.5(HADHA):c.1994C>T (p.Ser665Phe)
|
rs1669530829
|
|
|
NM_000182.5(HADHA):c.2000+5G>C
|
|
|
|
NM_000182.5(HADHA):c.2005T>G (p.Ser669Ala)
|
rs1669507749
|
|
|
NM_000182.5(HADHA):c.2027G>T (p.Arg676Leu)
|
rs1204190984
|
|
|
NM_000182.5(HADHA):c.2077A>G (p.Ile693Val)
|
|
|
|
NM_000182.5(HADHA):c.2087C>T (p.Thr696Ile)
|
rs2147749338
|
|
|
NM_000182.5(HADHA):c.2146+19G>C
|
|
|
|
NM_000182.5(HADHA):c.2147-2A>G
|
|
|
|
NM_000182.5(HADHA):c.2185A>G (p.Ile729Val)
|
|
|
|
NM_000182.5(HADHA):c.2194C>T (p.Arg732Trp)
|
|
|
|
NM_000182.5(HADHA):c.2209G>C (p.Glu737Gln)
|
|
|
|
NM_000182.5(HADHA):c.2215G>T (p.Ala739Ser)
|
rs141164185
|
|
|
NM_000182.5(HADHA):c.230A>G (p.Asn77Ser)
|
|
|
|
NM_000182.5(HADHA):c.265G>A (p.Val89Ile)
|
|
|
|
NM_000182.5(HADHA):c.269T>G (p.Leu90Arg)
|
rs2147784395
|
|
|
NM_000182.5(HADHA):c.282G>C (p.Lys94Asn)
|
|
|
|
NM_000182.5(HADHA):c.362A>G (p.Gln121Arg)
|
|
|
|
NM_000182.5(HADHA):c.431C>T (p.Ser144Phe)
|
rs758107197
|
|
|
NM_000182.5(HADHA):c.467G>A (p.Cys156Tyr)
|
rs1670643151
|
|
|
NM_000182.5(HADHA):c.496A>G (p.Lys166Glu)
|
|
|
|
NM_000182.5(HADHA):c.512C>T (p.Thr171Ile)
|
|
|
|
NM_000182.5(HADHA):c.560G>A (p.Arg187Lys)
|
|
|
|
NM_000182.5(HADHA):c.573G>A (p.Met191Ile)
|
rs2147781167
|
|
|
NM_000182.5(HADHA):c.623G>A (p.Arg208His)
|
|
|
|
NM_000182.5(HADHA):c.704G>A (p.Arg235Gln)
|
|
|
|
NM_000182.5(HADHA):c.711A>G (p.Ile237Met)
|
|
|
|
NM_000182.5(HADHA):c.713A>C (p.Glu238Ala)
|
|
|
|
NM_000182.5(HADHA):c.734T>G (p.Ile245Ser)
|
|
|
|
NM_000182.5(HADHA):c.73A>G (p.Ile25Val)
|
|
|
|
NM_000182.5(HADHA):c.743C>T (p.Ala248Val)
|
rs199688741
|
|
|
NM_000182.5(HADHA):c.767T>A (p.Ile256Asn)
|
rs1490396477
|
|
|
NM_000182.5(HADHA):c.785A>C (p.Lys262Thr)
|
|
|
|
NM_000182.5(HADHA):c.799+5G>A
|
|
|
|
NM_000182.5(HADHA):c.800A>G (p.Lys267Arg)
|
|
|
|
NM_000182.5(HADHA):c.808G>A (p.Ala270Thr)
|
rs1574615066
|
|
|
NM_000182.5(HADHA):c.80G>A (p.Arg27His)
|
rs200145855
|
|
|
NM_000182.5(HADHA):c.901C>A (p.Pro301Thr)
|
|
|
|
NM_000182.5(HADHA):c.944G>A (p.Gly315Glu)
|
|
|
|
NM_000182.5(HADHA):c.975G>A (p.Gln325=)
|
rs751970693
|
|
|
NM_000182.5(HADHA):c.995T>C (p.Met332Thr)
|
|
|
|
NM_000182.5(HADHA):c.995T>G (p.Met332Arg)
|
rs752285354
|
|
|
NM_000231.3(SGCG):c.-1+5G>A
|
|
|
|
NM_000231.3(SGCG):c.117T>G (p.Phe39Leu)
|
rs1877867873
|
|
|
NM_000231.3(SGCG):c.121CTT[1] (p.Leu44del)
|
rs1349925286
|
|
|
NM_000231.3(SGCG):c.142G>C (p.Val48Leu)
|
rs369936288
|
|
|
NM_000231.3(SGCG):c.161C>A (p.Thr54Lys)
|
rs886043940
|
|
|
NM_000231.3(SGCG):c.172C>A (p.Leu58Ile)
|
rs752310028
|
|
|
NM_000231.3(SGCG):c.183G>A (p.Met61Ile)
|
rs1288398934
|
|
|
NM_000231.3(SGCG):c.195+3A>G
|
|
|
|
NM_000231.3(SGCG):c.195+5G>A
|
|
|
|
NM_000231.3(SGCG):c.199G>A (p.Gly67Arg)
|
rs1879239201
|
|
|
NM_000231.3(SGCG):c.217G>A (p.Val73Ile)
|
rs763619480
|
|
|
NM_000231.3(SGCG):c.223A>G (p.Lys75Glu)
|
rs2137545079
|
|
|
NM_000231.3(SGCG):c.250T>A (p.Ser84Thr)
|
rs1566011041
|
|
|
NM_000231.3(SGCG):c.274G>A (p.Ala92Thr)
|
rs1566011069
|
|
|
NM_000231.3(SGCG):c.275C>A (p.Ala92Asp)
|
rs886044395
|
|
|
NM_000231.3(SGCG):c.310C>A (p.Leu104Ile)
|
|
|
|
NM_000231.3(SGCG):c.317A>C (p.Gln106Pro)
|
rs2137569326
|
|
|
NM_000231.3(SGCG):c.344C>A (p.Ala115Glu)
|
rs774245371
|
|
|
NM_000231.3(SGCG):c.374G>A (p.Arg125Lys)
|
rs2137569487
|
|
|
NM_000231.3(SGCG):c.379A>C (p.Lys127Gln)
|
|
|
|
NM_000231.3(SGCG):c.381A>G (p.Lys127=)
|
|
|
|
NM_000231.3(SGCG):c.386-9A>G
|
|
|
|
NM_000231.3(SGCG):c.386G>T (p.Gly129Val)
|
rs866412938
|
|
|
NM_000231.3(SGCG):c.434A>G (p.Asn145Ser)
|
rs1451332880
|
|
|
NM_000231.3(SGCG):c.435C>A (p.Asn145Lys)
|
|
|
|
NM_000231.3(SGCG):c.44T>C (p.Ile15Thr)
|
rs1877863268
|
|
|
NM_000231.3(SGCG):c.455C>A (p.Thr152Asn)
|
rs201329880
|
|
|
NM_000231.3(SGCG):c.45A>G (p.Ile15Met)
|
rs2137501268
|
|
|
NM_000231.3(SGCG):c.46G>C (p.Glu16Gln)
|
|
|
|
NM_000231.3(SGCG):c.485C>A (p.Thr162Lys)
|
rs770939408
|
|
|
NM_000231.3(SGCG):c.494T>C (p.Leu165Pro)
|
rs2137617769
|
|
|
NM_000231.3(SGCG):c.504T>C (p.Thr168=)
|
rs2137617795
|
|
|
NM_000231.3(SGCG):c.529C>T (p.His177Tyr)
|
rs375592456
|
|
|
NM_000231.3(SGCG):c.551T>G (p.Val184Gly)
|
rs1593095374
|
|
|
NM_000231.3(SGCG):c.559G>A (p.Asp187Asn)
|
rs886042075
|
|
|
NM_000231.3(SGCG):c.560A>G (p.Asp187Gly)
|
rs2137644813
|
|
|
NM_000231.3(SGCG):c.563C>G (p.Pro188Arg)
|
|
|
|
NM_000231.3(SGCG):c.563C>T (p.Pro188Leu)
|
rs753806016
|
|
|
NM_000231.3(SGCG):c.575T>G (p.Leu192Arg)
|
rs1555245351
|
|
|
NM_000231.3(SGCG):c.579-3C>T
|
|
|
|
NM_000231.3(SGCG):c.57G>T (p.Glu19Asp)
|
rs752669226
|
|
|
NM_000231.3(SGCG):c.595C>T (p.Arg199Trp)
|
|
|
|
NM_000231.3(SGCG):c.5T>C (p.Val2Ala)
|
|
|
|
NM_000231.3(SGCG):c.605G>C (p.Ser202Thr)
|
|
|
|
NM_000231.3(SGCG):c.619A>G (p.Arg207Gly)
|
rs1883003177
|
|
|
NM_000231.3(SGCG):c.636A>G (p.Gln212=)
|
rs794727841
|
|
|
NM_000231.3(SGCG):c.643G>T (p.Ala215Ser)
|
|
|
|
NM_000231.3(SGCG):c.659C>T (p.Ala220Val)
|
|
|
|
NM_000231.3(SGCG):c.662T>C (p.Leu221Pro)
|
rs1883006449
|
|
|
NM_000231.3(SGCG):c.672G>T (p.Met224Ile)
|
rs866525494
|
|
|
NM_000231.3(SGCG):c.703-1G>A
|
|
|
|
NM_000231.3(SGCG):c.703-1G>C
|
rs1883152345
|
|
|
NM_000231.3(SGCG):c.705_706inv (p.Val236Met)
|
|
|
|
NM_000231.3(SGCG):c.714_719del (p.Asp238_Ala239del)
|
rs1555248287
|
|
|
NM_000231.3(SGCG):c.743T>C (p.Val248Ala)
|
|
|
|
NM_000231.3(SGCG):c.757G>A (p.Gly253Ser)
|
|
|
|
NM_000231.3(SGCG):c.796G>T (p.Val266Leu)
|
rs1555248300
|
|
|
NM_000231.3(SGCG):c.800_801delinsCC (p.Cys267Ser)
|
|
|
|
NM_000231.3(SGCG):c.815T>G (p.Leu272Arg)
|
|
|
|
NM_000231.3(SGCG):c.817T>A (p.Tyr273Asn)
|
rs1883158469
|
|
|
NM_000231.3(SGCG):c.82A>C (p.Ile28Leu)
|
|
|
|
NM_000232.5(SGCB):c.10G>C (p.Ala4Pro)
|
|
|
|
NM_000232.5(SGCB):c.110A>G (p.Asn37Ser)
|
rs1156620837
|
|
|
NM_000232.5(SGCB):c.112A>C (p.Ser38Arg)
|
rs1456517729
|
|
|
NM_000232.5(SGCB):c.12GGC[5] (p.Ala9dup)
|
rs768838951
|
|
|
NM_000232.5(SGCB):c.12GGC[6] (p.Ala8_Ala9dup)
|
rs768838951
|
|
|
NM_000232.5(SGCB):c.131A>G (p.Tyr44Cys)
|
|
|
|
NM_000232.5(SGCB):c.14C>T (p.Ala5Val)
|
rs886158091
|
|
|
NM_000232.5(SGCB):c.166G>A (p.Gly56Arg)
|
|
|
|
NM_000232.5(SGCB):c.17C>T (p.Ala6Val)
|
rs1414363052
|
|
|
NM_000232.5(SGCB):c.19G>A (p.Ala7Thr)
|
|
|
|
NM_000232.5(SGCB):c.241A>G (p.Ile81Val)
|
rs1560568792
|
|
|
NM_000232.5(SGCB):c.244-3C>A
|
rs2109372117
|
|
|
NM_000232.5(SGCB):c.26C>T (p.Ala9Val)
|
|
|
|
NM_000232.5(SGCB):c.278G>A (p.Gly93Glu)
|
|
|
|
NM_000232.5(SGCB):c.288C>G (p.Gly96=)
|
rs2109372010
|
|
|
NM_000232.5(SGCB):c.299T>A (p.Met100Lys)
|
rs104893871
|
|
|
NM_000232.5(SGCB):c.32A>G (p.Gln11Arg)
|
rs2109380807
|
|
|
NM_000232.5(SGCB):c.33+3C>G
|
|
|
|
NM_000232.5(SGCB):c.33+4T>C
|
|
|
|
NM_000232.5(SGCB):c.34-3T>G
|
rs794727241
|
|
|
NM_000232.5(SGCB):c.343G>C (p.Asp115His)
|
rs1560567700
|
|
|
NM_000232.5(SGCB):c.346A>G (p.Met116Val)
|
rs752168132
|
|
|
NM_000232.5(SGCB):c.358C>T (p.His120Tyr)
|
|
|
|
NM_000232.5(SGCB):c.361C>A (p.Pro121Thr)
|
rs764749125
|
|
|
NM_000232.5(SGCB):c.373A>T (p.Ser125Cys)
|
|
|
|
NM_000232.5(SGCB):c.379G>C (p.Val127Leu)
|
|
|
|
NM_000232.5(SGCB):c.396T>G (p.Asn132Lys)
|
|
|
|
NM_000232.5(SGCB):c.432T>G (p.Ile144Met)
|
|
|
|
NM_000232.5(SGCB):c.434T>C (p.Val145Ala)
|
rs1446053409
|
|
|
NM_000232.5(SGCB):c.44A>G (p.Asn15Ser)
|
rs1560568898
|
|
|
NM_000232.5(SGCB):c.474C>G (p.Asn158Lys)
|
rs1412020365
|
|
|
NM_000232.5(SGCB):c.475A>G (p.Lys159Glu)
|
rs2109371081
|
|
|
NM_000232.5(SGCB):c.491G>T (p.Ser164Ile)
|
|
|
|
NM_000232.5(SGCB):c.504_505delinsAG (p.Met168_Gln169delinsIleGlu)
|
rs2109371031
|
|
|
NM_000232.5(SGCB):c.524C>A (p.Thr175Asn)
|
|
|
|
NM_000232.5(SGCB):c.533T>C (p.Ile178Thr)
|
rs943840432
|
|
|
NM_000232.5(SGCB):c.569A>G (p.His190Arg)
|
|
|
|
NM_000232.5(SGCB):c.592T>G (p.Leu198Val)
|
|
|
|
NM_000232.5(SGCB):c.59A>C (p.Lys20Thr)
|
rs2109376098
|
|
|
NM_000232.5(SGCB):c.602A>C (p.Gln201Pro)
|
rs1560567321
|
|
|
NM_000232.5(SGCB):c.613A>C (p.Thr205Pro)
|
|
|
|
NM_000232.5(SGCB):c.626C>T (p.Thr209Ile)
|
rs2109370086
|
|
|
NM_000232.5(SGCB):c.632A>G (p.Asn211Ser)
|
|
|
|
NM_000232.5(SGCB):c.64A>G (p.Met22Val)
|
|
|
|
NM_000232.5(SGCB):c.690A>C (p.Glu230Asp)
|
|
|
|
NM_000232.5(SGCB):c.691G>A (p.Gly231Ser)
|
|
|
|
NM_000232.5(SGCB):c.698T>C (p.Phe233Ser)
|
rs1578125133
|
|
|
NM_000232.5(SGCB):c.707G>A (p.Gly236Asp)
|
rs1553940073
|
|
|
NM_000232.5(SGCB):c.718G>A (p.Glu240Lys)
|
|
|
|
NM_000232.5(SGCB):c.725A>C (p.His242Pro)
|
rs1553940064
|
|
|
NM_000232.5(SGCB):c.727A>G (p.Met243Val)
|
|
|
|
NM_000232.5(SGCB):c.729G>C (p.Met243Ile)
|
rs2109369930
|
|
|
NM_000232.5(SGCB):c.753+5G>A
|
rs936193061
|
|
|
NM_000232.5(SGCB):c.758A>G (p.Asn253Ser)
|
rs886044225
|
|
|
NM_000232.5(SGCB):c.768C>G (p.Ile256Met)
|
|
|
|
NM_000232.5(SGCB):c.797C>T (p.Thr266Ile)
|
|
|
|
NM_000232.5(SGCB):c.800G>T (p.Arg267Leu)
|
rs114778658
|
|
|
NM_000232.5(SGCB):c.819T>G (p.Ser273Arg)
|
|
|
|
NM_000232.5(SGCB):c.821G>A (p.Gly274Glu)
|
rs2110209607
|
|
|
NM_000232.5(SGCB):c.827A>T (p.Gln276Leu)
|
rs1737022947
|
|
|
NM_000232.5(SGCB):c.846G>C (p.Trp282Cys)
|
|
|
|
NM_000232.5(SGCB):c.859del (p.Leu287fs)
|
rs1553939675
|
|
|
NM_000232.5(SGCB):c.863G>T (p.Cys288Phe)
|
|
|
|
NM_000232.5(SGCB):c.87_89del (p.Arg30del)
|
rs780654411
|
|
|
NM_000232.5(SGCB):c.892G>A (p.Val298Met)
|
rs1560565822
|
|
|
NM_000232.5(SGCB):c.8C>A (p.Ala3Glu)
|
rs1578130059
|
|
|
NM_000232.5(SGCB):c.901A>G (p.Thr301Ala)
|
rs1578123128
|
|
|
NM_000232.5(SGCB):c.908A>G (p.Gln303Arg)
|
|
|
|
NM_000232.5(SGCB):c.929C>T (p.Ser310Leu)
|
rs779083146
|
|
|
NM_000232.5(SGCB):c.9_14dup (p.Ala8_Ala9dup)
|
rs886044103
|
|
|
NM_000232.5(SGCB):c.9_17dup (p.Ala7_Ala9dup)
|
rs1410190129
|
|
|
NM_000232.5(SGCB):c.9_23dup (p.Ala5_Ala9dup)
|
rs781364428
|
|
|
NM_000256.3(MYBPC3):c.1017G>C (p.Gln339His)
|
|
|
|
NM_000256.3(MYBPC3):c.1022G>T (p.Gly341Val)
|
|
|
|
NM_000256.3(MYBPC3):c.1031A>G (p.Asp344Gly)
|
rs2095893984
|
|
|
NM_000256.3(MYBPC3):c.1032C>A (p.Asp344Glu)
|
rs1351784136
|
|
|
NM_000256.3(MYBPC3):c.1034T>C (p.Leu345Pro)
|
rs2095893977
|
|
|
NM_000256.3(MYBPC3):c.1036C>A (p.Arg346Ser)
|
rs1236178301
|
|
|
NM_000256.3(MYBPC3):c.1036C>G (p.Arg346Gly)
|
rs1236178301
|
|
|
NM_000256.3(MYBPC3):c.1036C>T (p.Arg346Cys)
|
rs1236178301
|
|
|
NM_000256.3(MYBPC3):c.1039G>C (p.Gly347Arg)
|
rs397515884
|
|
|
NM_000256.3(MYBPC3):c.1040G>T (p.Gly347Val)
|
rs1555122753
|
|
|
NM_000256.3(MYBPC3):c.1051A>G (p.Arg351Gly)
|
|
|
|
NM_000256.3(MYBPC3):c.1063A>G (p.Met355Val)
|
|
|
|
NM_000256.3(MYBPC3):c.1072G>T (p.Asp358Tyr)
|
rs746267533
|
|
|
NM_000256.3(MYBPC3):c.1076AGA[2] (p.Lys361del)
|
rs775069579
|
|
|
NM_000256.3(MYBPC3):c.1082A>G (p.Lys361Arg)
|
|
|
|
NM_000256.3(MYBPC3):c.1084A>C (p.Ser362Arg)
|
rs730880633
|
|
|
NM_000256.3(MYBPC3):c.1090G>C (p.Ala364Pro)
|
rs794727046
|
|
|
NM_000256.3(MYBPC3):c.1091-17T>G
|
|
|
|
NM_000256.3(MYBPC3):c.1094T>C (p.Phe365Ser)
|
|
|
|
NM_000256.3(MYBPC3):c.1097A>C (p.Gln366Pro)
|
rs1451314369
|
|
|
NM_000256.3(MYBPC3):c.1099AAG[1] (p.Lys368del)
|
|
|
|
NM_000256.3(MYBPC3):c.10C>T (p.Pro4Ser)
|
rs1308785992
|
|
|
NM_000256.3(MYBPC3):c.1101G>T (p.Lys367Asn)
|
rs753209030
|
|
|
NM_000256.3(MYBPC3):c.1105C>G (p.Leu369Val)
|
|
|
|
NM_000256.3(MYBPC3):c.1111C>A (p.Pro371Thr)
|
rs1003833483
|
|
|
NM_000256.3(MYBPC3):c.1112C>G (p.Pro371Arg)
|
rs397515887
|
|
|
NM_000256.3(MYBPC3):c.1124T>A (p.Val375Glu)
|
rs1420514562
|
|
|
NM_000256.3(MYBPC3):c.1128C>A (p.Ser376Arg)
|
rs1555122453
|
|
|
NM_000256.3(MYBPC3):c.1138A>G (p.Lys380Glu)
|
|
|
|
NM_000256.3(MYBPC3):c.113T>G (p.Val38Gly)
|
rs1595850711
|
|
|
NM_000256.3(MYBPC3):c.1144C>G (p.Arg382Gly)
|
rs11570076
|
|
|
NM_000256.3(MYBPC3):c.1166A>T (p.Asp389Val)
|
rs1412710023
|
|
|
NM_000256.3(MYBPC3):c.1167C>G (p.Asp389Glu)
|
rs1292522713
|
|
|
NM_000256.3(MYBPC3):c.1174G>T (p.Ala392Ser)
|
|
|
|
NM_000256.3(MYBPC3):c.1180G>A (p.Val394Ile)
|
rs749000345
|
|
|
NM_000256.3(MYBPC3):c.1182C>A (p.Val394=)
|
rs730880636
|
|
|
NM_000256.3(MYBPC3):c.1188G>T (p.Trp396Cys)
|
rs397515890
|
|
|
NM_000256.3(MYBPC3):c.1192A>G (p.Lys398Glu)
|
rs2095891272
|
|
|
NM_000256.3(MYBPC3):c.1193A>G (p.Lys398Arg)
|
|
|
|
NM_000256.3(MYBPC3):c.1199G>A (p.Gly400Asp)
|
|
|
|
NM_000256.3(MYBPC3):c.1208T>A (p.Ile403Asn)
|
rs2142862190
|
|
|
NM_000256.3(MYBPC3):c.1213A>G (p.Met405Val)
|
rs727503207
|
|
|
NM_000256.3(MYBPC3):c.1216A>T (p.Ser406Cys)
|
rs2142862180
|
|
|
NM_000256.3(MYBPC3):c.1217G>A (p.Ser406Asn)
|
rs1053965064
|
|
|
NM_000256.3(MYBPC3):c.1218C>G (p.Ser406Arg)
|
|
|
|
NM_000256.3(MYBPC3):c.1219G>C (p.Gly407Arg)
|
rs727505266
|
|
|
NM_000256.3(MYBPC3):c.1221C>T (p.Gly407=)
|
rs1363326088
|
|
|
NM_000256.3(MYBPC3):c.1223G>A (p.Ser408Asn)
|
rs2095891230
|
|
|
NM_000256.3(MYBPC3):c.1223G>C (p.Ser408Thr)
|
rs2095891230
|
|
|
NM_000256.3(MYBPC3):c.1226+3_1226+6del
|
rs1595846648
|
|
|
NM_000256.3(MYBPC3):c.1227-3del
|
rs2142861804
|
|
|
NM_000256.3(MYBPC3):c.1227-9C>G
|
|
|
|
NM_000256.3(MYBPC3):c.1231A>C (p.Ile411Leu)
|
rs1294930067
|
|
|
NM_000256.3(MYBPC3):c.1238A>G (p.Glu413Gly)
|
rs730880532
|
|
|
NM_000256.3(MYBPC3):c.1246G>C (p.Gly416Arg)
|
|
|
|
NM_000256.3(MYBPC3):c.124T>C (p.Trp42Arg)
|
rs1335468052
|
|
|
NM_000256.3(MYBPC3):c.1255C>A (p.Arg419Ser)
|
rs368770848
|
|
|
NM_000256.3(MYBPC3):c.1262T>C (p.Leu421Pro)
|
|
|
|
NM_000256.3(MYBPC3):c.1262T>G (p.Leu421Arg)
|
rs2142861749
|
|
|
NM_000256.3(MYBPC3):c.1270A>T (p.Ser424Cys)
|
rs2095890748
|
|
|
NM_000256.3(MYBPC3):c.1277G>A (p.Cys426Tyr)
|
rs2142861739
|
|
|
NM_000256.3(MYBPC3):c.1288G>A (p.Asp430Asn)
|
rs730880534
|
|
|
NM_000256.3(MYBPC3):c.1291G>C (p.Asp431His)
|
|
|
|
NM_000256.3(MYBPC3):c.1292_1293delinsCA (p.Asp431Ala)
|
rs2142861714
|
|
|
NM_000256.3(MYBPC3):c.1293C>A (p.Asp431Glu)
|
rs763808974
|
|
|
NM_000256.3(MYBPC3):c.1298C>G (p.Ala433Gly)
|
|
|
|
NM_000256.3(MYBPC3):c.130C>T (p.Arg44Cys)
|
rs557439091
|
|
|
NM_000256.3(MYBPC3):c.1319G>A (p.Gly440Asp)
|
rs142317339
|
|
|
NM_000256.3(MYBPC3):c.1329T>C (p.Cys443=)
|
|
|
|
NM_000256.3(MYBPC3):c.1333A>G (p.Thr445Ala)
|
rs2095890634
|
|
|
NM_000256.3(MYBPC3):c.1334C>T (p.Thr445Met)
|
|
|
|
NM_000256.3(MYBPC3):c.1339C>T (p.Leu447Phe)
|
rs1565628175
|
|
|
NM_000256.3(MYBPC3):c.1340T>G (p.Leu447Arg)
|
|
|
|
NM_000256.3(MYBPC3):c.1345G>C (p.Val449Leu)
|
|
|
|
NM_000256.3(MYBPC3):c.1351+3G>T
|
|
|
|
NM_000256.3(MYBPC3):c.1351+5G>A
|
rs1555122293
|
|
|
NM_000256.3(MYBPC3):c.1352-2AG[4]
|
|
|
|
NM_000256.3(MYBPC3):c.1353G>C (p.Glu451Asp)
|
|
|
|
NM_000256.3(MYBPC3):c.1353G>T (p.Glu451Asp)
|
rs1280352639
|
|
|
NM_000256.3(MYBPC3):c.1354C>G (p.Pro452Ala)
|
|
|
|
NM_000256.3(MYBPC3):c.1357C>A (p.Pro453Thr)
|
rs749310275
|
|
|
NM_000256.3(MYBPC3):c.1358C>T (p.Pro453Leu)
|
rs397515898
|
|
|
NM_000256.3(MYBPC3):c.1363C>G (p.Leu455Val)
|
rs747686377
|
|
|
NM_000256.3(MYBPC3):c.1369A>G (p.Thr457Ala)
|
rs1565628106
|
|
|
NM_000256.3(MYBPC3):c.1375C>G (p.Pro459Ala)
|
rs758901980
|
|
|
NM_000256.3(MYBPC3):c.1385A>G (p.Asp462Gly)
|
|
|
|
NM_000256.3(MYBPC3):c.1386C>A (p.Asp462Glu)
|
rs1213818614
|
|
|
NM_000256.3(MYBPC3):c.1393G>T (p.Val465Leu)
|
rs2095890438
|
|
|
NM_000256.3(MYBPC3):c.13G>T (p.Gly5Trp)
|
rs201278114
|
|
|
NM_000256.3(MYBPC3):c.1405C>G (p.Gln469Glu)
|
rs730880539
|
|
|
NM_000256.3(MYBPC3):c.1408C>G (p.Arg470Gly)
|
rs1595846365
|
|
|
NM_000256.3(MYBPC3):c.140G>A (p.Ser47Asn)
|
rs1565631851
|
|
|
NM_000256.3(MYBPC3):c.1411G>A (p.Val471Met)
|
rs1378189986
|
|
|
NM_000256.3(MYBPC3):c.1411G>C (p.Val471Leu)
|
rs1378189986
|
|
|
NM_000256.3(MYBPC3):c.1415A>G (p.Glu472Gly)
|
rs2095890378
|
|
|
NM_000256.3(MYBPC3):c.1418T>C (p.Phe473Ser)
|
rs397515900
|
|
|
NM_000256.3(MYBPC3):c.1422G>C (p.Glu474Asp)
|
rs397515901
|
|
|
NM_000256.3(MYBPC3):c.1423T>C (p.Cys475Arg)
|
rs760864668
|
|
|
NM_000256.3(MYBPC3):c.1439A>G (p.Glu480Gly)
|
rs2095890312
|
|
|
NM_000256.3(MYBPC3):c.1441G>C (p.Gly481Arg)
|
rs2095890302
|
|
|
NM_000256.3(MYBPC3):c.1442G>C (p.Gly481Ala)
|
|
|
|
NM_000256.3(MYBPC3):c.1455A>T (p.Lys485Asn)
|
|
|
|
NM_000256.3(MYBPC3):c.1456T>G (p.Trp486Gly)
|
rs397515902
|
|
|
NM_000256.3(MYBPC3):c.1457+20_1457+21delinsTT
|
rs2095890222
|
|
|
NM_000256.3(MYBPC3):c.1457+4A>G
|
rs886039119
|
|
|
NM_000256.3(MYBPC3):c.1458-3T>G
|
|
|
|
NM_000256.3(MYBPC3):c.1458-7C>A
|
|
|
|
NM_000256.3(MYBPC3):c.1458G>T (p.Trp486Cys)
|
rs1057517920
|
|
|
NM_000256.3(MYBPC3):c.1468G>C (p.Gly490Arg)
|
rs200625851
|
|
|
NM_000256.3(MYBPC3):c.146_148del (p.Ile49del)
|
rs781207661
|
|
|
NM_000256.3(MYBPC3):c.1472T>C (p.Val491Ala)
|
rs778361492
|
|
|
NM_000256.3(MYBPC3):c.1474G>C (p.Glu492Gln)
|
|
|
|
NM_000256.3(MYBPC3):c.1481C>G (p.Thr494Ser)
|
rs958553888
|
|
|
NM_000256.3(MYBPC3):c.1498A>C (p.Lys500Gln)
|
rs1555122190
|
|
|
NM_000256.3(MYBPC3):c.1504C>G (p.Arg502Gly)
|
rs375882485
|
|
|
NM_000256.3(MYBPC3):c.1505G>T (p.Arg502Leu)
|
rs397515907
|
|
|
NM_000256.3(MYBPC3):c.150C>A (p.Ser50Arg)
|
rs368918487
|
|
|
NM_000256.3(MYBPC3):c.1511A>G (p.Lys504Arg)
|
rs1595846219
|
|
|
NM_000256.3(MYBPC3):c.151G>A (p.Ala51Thr)
|
rs534282225
|
|
|
NM_000256.3(MYBPC3):c.151G>T (p.Ala51Ser)
|
rs534282225
|
|
|
NM_000256.3(MYBPC3):c.1532A>G (p.His511Arg)
|
rs2095889970
|
|
|
NM_000256.3(MYBPC3):c.1538TCA[1] (p.Ile514del)
|
rs2142861022
|
|
|
NM_000256.3(MYBPC3):c.1543_1545del (p.Asn515del)
|
rs730880643
|
|
|
NM_000256.3(MYBPC3):c.1546G>A (p.Glu516Lys)
|
rs730880545
|
|
|
NM_000256.3(MYBPC3):c.1548G>C (p.Glu516Asp)
|
rs1595846192
|
|
|
NM_000256.3(MYBPC3):c.154A>T (p.Ser52Cys)
|
rs2095900771
|
|
|
NM_000256.3(MYBPC3):c.1573T>G (p.Tyr525Asp)
|
rs1555122164
|
|
|
NM_000256.3(MYBPC3):c.1574A>G (p.Tyr525Cys)
|
|
|
|
NM_000256.3(MYBPC3):c.1588A>G (p.Ser530Gly)
|
|
|
|
NM_000256.3(MYBPC3):c.1590C>A (p.Ser530Arg)
|
|
|
|
NM_000256.3(MYBPC3):c.1591G>T (p.Gly531Trp)
|
rs397515912
|
|
|
NM_000256.3(MYBPC3):c.1594G>C (p.Gly532Arg)
|
rs1259569042
|
|
|
NM_000256.3(MYBPC3):c.1595G>A (p.Gly532Asp)
|
rs730880547
|
|
|
NM_000256.3(MYBPC3):c.1595G>T (p.Gly532Val)
|
rs730880547
|
|
|
NM_000256.3(MYBPC3):c.1601C>G (p.Ala534Gly)
|
rs374349666
|
|
|
NM_000256.3(MYBPC3):c.1606G>C (p.Ala536Pro)
|
rs2095889822
|
|
|
NM_000256.3(MYBPC3):c.1616T>G (p.Ile539Ser)
|
rs1158024707
|
|
|
NM_000256.3(MYBPC3):c.1624+206_1624+207ins236
|
|
|
|
NM_000256.3(MYBPC3):c.1624+3G>A
|
rs730880690
|
|
|
NM_000256.3(MYBPC3):c.1624+3G>C
|
rs730880690
|
|
|
NM_000256.3(MYBPC3):c.1624+5G>A
|
rs730880691
|
|
|
NM_000256.3(MYBPC3):c.1634T>G (p.Leu545Arg)
|
|
|
|
NM_000256.3(MYBPC3):c.1636G>A (p.Glu546Lys)
|
rs1274833977
|
|
|
NM_000256.3(MYBPC3):c.1639G>A (p.Val547Met)
|
|
|
|
NM_000256.3(MYBPC3):c.1649G>A (p.Ser550Asn)
|
|
|
|
NM_000256.3(MYBPC3):c.164A>G (p.Tyr55Cys)
|
|
|
|
NM_000256.3(MYBPC3):c.1654G>A (p.Ala552Thr)
|
rs727504887
|
|
|
NM_000256.3(MYBPC3):c.1658A>T (p.Asp553Val)
|
|
|
|
NM_000256.3(MYBPC3):c.1661T>A (p.Leu554Gln)
|
|
|
|
NM_000256.3(MYBPC3):c.1669G>A (p.Gly557Ser)
|
rs730880693
|
|
|
NM_000256.3(MYBPC3):c.1678G>T (p.Asp560Tyr)
|
|
|
|
NM_000256.3(MYBPC3):c.1684G>A (p.Ala562Thr)
|
rs397515919
|
|
|
NM_000256.3(MYBPC3):c.1687G>T (p.Val563Leu)
|
rs2142860254
|
|
|
NM_000256.3(MYBPC3):c.1694A>G (p.Lys565Arg)
|
|
|
|
NM_000256.3(MYBPC3):c.1696T>A (p.Cys566Ser)
|
rs730880695
|
|
|
NM_000256.3(MYBPC3):c.1702G>A (p.Val568Ile)
|
rs2095889216
|
|
|
NM_000256.3(MYBPC3):c.1703T>A (p.Val568Asp)
|
rs2142860216
|
|
|
NM_000256.3(MYBPC3):c.1709A>G (p.Asp570Gly)
|
|
|
|
NM_000256.3(MYBPC3):c.1714A>G (p.Asn572Asp)
|
|
|
|
NM_000256.3(MYBPC3):c.1720C>T (p.Arg574Trp)
|
rs61897383
|
|
|
NM_000256.3(MYBPC3):c.1721G>T (p.Arg574Leu)
|
rs397515922
|
|
|
NM_000256.3(MYBPC3):c.1747G>A (p.Glu583Lys)
|
rs1278349327
|
|
|
NM_000256.3(MYBPC3):c.1759G>C (p.Asp587His)
|
rs730880526
|
|
|
NM_000256.3(MYBPC3):c.1762A>G (p.Ser588Gly)
|
|
|
|
NM_000256.3(MYBPC3):c.1768A>G (p.Ile590Val)
|
|
|
|
NM_000256.3(MYBPC3):c.1776G>A (p.Val592=)
|
rs727503196
|
|
|
NM_000256.3(MYBPC3):c.1780C>T (p.His594Tyr)
|
rs2142860104
|
|
|
NM_000256.3(MYBPC3):c.1783A>G (p.Ile595Val)
|
rs730880550
|
|
|
NM_000256.3(MYBPC3):c.1790+3G>A
|
|
|
|
NM_000256.3(MYBPC3):c.1790+5G>A
|
rs727504489
|
|
|
NM_000256.3(MYBPC3):c.1791-5T>G
|
rs2142859438
|
|
|
NM_000256.3(MYBPC3):c.1799A>G (p.Lys600Arg)
|
rs2142859413
|
|
|
NM_000256.3(MYBPC3):c.1807_1808insGAT (p.Ile603delinsArgPhe)
|
|
|
|
NM_000256.3(MYBPC3):c.1808T>C (p.Ile603Thr)
|
rs397515928
|
|
|
NM_000256.3(MYBPC3):c.1822C>G (p.Pro608Ala)
|
rs730880552
|
|
|
NM_000256.3(MYBPC3):c.1828G>T (p.Asp610Tyr)
|
rs371564200
|
|
|
NM_000256.3(MYBPC3):c.1829A>T (p.Asp610Val)
|
rs730880554
|
|
|
NM_000256.3(MYBPC3):c.1830C>G (p.Asp610Glu)
|
rs768049705
|
|
|
NM_000256.3(MYBPC3):c.1831_1887dup (p.Glu611_Leu629dup)
|
rs2142859193
|
|
|
NM_000256.3(MYBPC3):c.1841A>G (p.Tyr614Cys)
|
rs727503194
|
|
|
NM_000256.3(MYBPC3):c.1843A>G (p.Ser615Gly)
|
rs2095888152
|
|
|
NM_000256.3(MYBPC3):c.1846T>A (p.Phe616Ile)
|
|
|
|
NM_000256.3(MYBPC3):c.1857G>C (p.Glu619Asp)
|
|
|
|
NM_000256.3(MYBPC3):c.1864G>A (p.Ala622Thr)
|
rs1489679460
|
|
|
NM_000256.3(MYBPC3):c.187C>G (p.Arg63Gly)
|
rs373315466
|
|
|
NM_000256.3(MYBPC3):c.1880C>T (p.Ala627Val)
|
rs1352376969
|
|
|
NM_000256.3(MYBPC3):c.1885C>T (p.Leu629Phe)
|
|
|
|
NM_000256.3(MYBPC3):c.1886T>C (p.Leu629Pro)
|
rs730880137
|
|
|
NM_000256.3(MYBPC3):c.1897+5G>A
|
rs397515936
|
|
|
NM_000256.3(MYBPC3):c.1927+4A>G
|
|
|
|
NM_000256.3(MYBPC3):c.1927G>A (p.Glu643Lys)
|
|
|
|
NM_000256.3(MYBPC3):c.1927G>C (p.Glu643Gln)
|
rs1555121871
|
|
|
NM_000256.3(MYBPC3):c.1934C>T (p.Pro645Leu)
|
rs397515938
|
|
|
NM_000256.3(MYBPC3):c.1939A>G (p.Ile647Val)
|
rs1565626472
|
|
|
NM_000256.3(MYBPC3):c.1950C>G (p.Asp650Glu)
|
rs727504250
|
|
|
NM_000256.3(MYBPC3):c.1955C>G (p.Pro652Arg)
|
rs753992239
|
|
|
NM_000256.3(MYBPC3):c.1961G>A (p.Arg654His)
|
rs1800565
|
|
|
NM_000256.3(MYBPC3):c.1967C>G (p.Pro656Arg)
|
rs927421140
|
|
|
NM_000256.3(MYBPC3):c.1973C>A (p.Thr658Asn)
|
rs766213616
|
|
|
NM_000256.3(MYBPC3):c.1979T>C (p.Val660Ala)
|
rs1555121660
|
|
|
NM_000256.3(MYBPC3):c.1985_1986delinsCG (p.Val662Ala)
|
rs2095886408
|
|
|
NM_000256.3(MYBPC3):c.1991G>A (p.Gly664Glu)
|
|
|
|
NM_000256.3(MYBPC3):c.1991G>T (p.Gly664Val)
|
rs2095886397
|
|
|
NM_000256.3(MYBPC3):c.1A>T (p.Met1Leu)
|
rs1461764618
|
|
|
NM_000256.3(MYBPC3):c.2003G>C (p.Arg668Pro)
|
|
|
|
NM_000256.3(MYBPC3):c.2011G>T (p.Val671Phe)
|
rs876657869
|
|
|
NM_000256.3(MYBPC3):c.2014C>T (p.Pro672Ser)
|
|
|
|
NM_000256.3(MYBPC3):c.2019C>G (p.Ile673Met)
|
rs746263346
|
|
|
NM_000256.3(MYBPC3):c.2021C>G (p.Ser674Cys)
|
rs2095886315
|
|
|
NM_000256.3(MYBPC3):c.2023G>A (p.Gly675Arg)
|
|
|
|
NM_000256.3(MYBPC3):c.2024G>A (p.Gly675Glu)
|
rs2142857647
|
|
|
NM_000256.3(MYBPC3):c.2029C>T (p.Pro677Ser)
|
|
|
|
NM_000256.3(MYBPC3):c.202G>A (p.Val68Met)
|
rs1199851911
|
|
|
NM_000256.3(MYBPC3):c.2030C>T (p.Pro677Leu)
|
rs786204345
|
|
|
NM_000256.3(MYBPC3):c.2032G>A (p.Ala678Thr)
|
|
|
|
NM_000256.3(MYBPC3):c.2035C>A (p.Pro679Thr)
|
rs372493586
|
|
|
NM_000256.3(MYBPC3):c.2047T>A (p.Trp683Arg)
|
rs2142857608
|
|
|
NM_000256.3(MYBPC3):c.2048G>C (p.Trp683Ser)
|
rs397515942
|
|
|
NM_000256.3(MYBPC3):c.2063C>T (p.Thr688Met)
|
rs3729946
|
|
|
NM_000256.3(MYBPC3):c.2067+4C>G
|
rs2095886229
|
|
|
NM_000256.3(MYBPC3):c.2067G>T (p.Gln689His)
|
|
|
|
NM_000256.3(MYBPC3):c.206G>C (p.Arg69Pro)
|
|
|
|
NM_000256.3(MYBPC3):c.2070G>T (p.Gly690=)
|
rs2142857365
|
|
|
NM_000256.3(MYBPC3):c.2071A>T (p.Asn691Tyr)
|
|
|
|
NM_000256.3(MYBPC3):c.2077G>C (p.Ala693Pro)
|
rs771753579
|
|
|
NM_000256.3(MYBPC3):c.2077G>T (p.Ala693Ser)
|
rs771753579
|
|
|
NM_000256.3(MYBPC3):c.2078C>T (p.Ala693Val)
|
rs896073779
|
|
|
NM_000256.3(MYBPC3):c.2081C>G (p.Pro694Arg)
|
rs1448112841
|
|
|
NM_000256.3(MYBPC3):c.2083G>A (p.Ala695Thr)
|
rs1360594566
|
|
|
NM_000256.3(MYBPC3):c.2095C>G (p.Pro699Ala)
|
rs2095885930
|
|
|
NM_000256.3(MYBPC3):c.2099A>G (p.Asp700Gly)
|
|
|
|
NM_000256.3(MYBPC3):c.209A>C (p.Glu70Ala)
|
|
|
|
NM_000256.3(MYBPC3):c.209A>G (p.Glu70Gly)
|
rs2142869503
|
|
|
NM_000256.3(MYBPC3):c.2100_2108del (p.Asp700_Pro702del)
|
rs2142857305
|
|
|
NM_000256.3(MYBPC3):c.2104C>T (p.Pro702Ser)
|
rs2142857317
|
|
|
NM_000256.3(MYBPC3):c.2108A>G (p.Glu703Gly)
|
rs2142857303
|
|
|
NM_000256.3(MYBPC3):c.210A>C (p.Glu70Asp)
|
rs1225434780
|
|
|
NM_000256.3(MYBPC3):c.2113A>G (p.Thr705Ala)
|
rs2059051476
|
|
|
NM_000256.3(MYBPC3):c.2117G>A (p.Gly706Asp)
|
rs1565626231
|
|
|
NM_000256.3(MYBPC3):c.2139T>G (p.Phe713Leu)
|
rs1565626205
|
|
|
NM_000256.3(MYBPC3):c.2143AAG[1] (p.Lys716del)
|
rs2142857249
|
|
|
NM_000256.3(MYBPC3):c.2148+6_2148+9del
|
rs397515949
|
|
|
NM_000256.3(MYBPC3):c.2148G>A (p.Lys716=)
|
rs2142857247
|
|
|
NM_000256.3(MYBPC3):c.2149-3C>A
|
|
|
|
NM_000256.3(MYBPC3):c.2149-5C>G
|
rs36211722
|
|
|
NM_000256.3(MYBPC3):c.2149-8C>A
|
|
|
|
NM_000256.3(MYBPC3):c.2149-9C>A
|
rs773882783
|
|
|
NM_000256.3(MYBPC3):c.2149-9C>G
|
rs773882783
|
|
|
NM_000256.3(MYBPC3):c.2153T>C (p.Leu718Pro)
|
rs1595844393
|
|
|
NM_000256.3(MYBPC3):c.2161A>G (p.Thr721Ala)
|
|
|
|
NM_000256.3(MYBPC3):c.2162C>T (p.Thr721Ile)
|
rs1293844338
|
|
|
NM_000256.3(MYBPC3):c.2177G>C (p.Arg726Pro)
|
|
|
|
NM_000256.3(MYBPC3):c.2184G>C (p.Glu728Asp)
|
rs2095885090
|
|
|
NM_000256.3(MYBPC3):c.2189C>T (p.Thr730Ile)
|
rs773757669
|
|
|
NM_000256.3(MYBPC3):c.2198G>T (p.Arg733Leu)
|
rs534345197
|
|
|
NM_000256.3(MYBPC3):c.2208C>A (p.Phe736Leu)
|
rs2095885039
|
|
|
NM_000256.3(MYBPC3):c.220G>A (p.Ala74Thr)
|
rs1555123744
|
|
|
NM_000256.3(MYBPC3):c.2215G>A (p.Glu739Lys)
|
|
|
|
NM_000256.3(MYBPC3):c.2217G>T (p.Glu739Asp)
|
rs786204348
|
|
|
NM_000256.3(MYBPC3):c.2231A>G (p.Glu744Gly)
|
rs2142856613
|
|
|
NM_000256.3(MYBPC3):c.2234A>G (p.Asp745Gly)
|
rs727503190
|
|
|
NM_000256.3(MYBPC3):c.2240G>A (p.Gly747Asp)
|
rs2095884996
|
|
|
NM_000256.3(MYBPC3):c.2242G>A (p.Val748Ile)
|
rs730880563
|
|
|
NM_000256.3(MYBPC3):c.2248A>G (p.Thr750Ala)
|
|
|
|
NM_000256.3(MYBPC3):c.2251G>A (p.Val751Ile)
|
|
|
|
NM_000256.3(MYBPC3):c.2252T>A (p.Val751Asp)
|
rs1555121446
|
|
|
NM_000256.3(MYBPC3):c.2257G>C (p.Val753Leu)
|
rs2142856577
|
|
|
NM_000256.3(MYBPC3):c.225C>G (p.Asp75Glu)
|
rs1395765226
|
|
|
NM_000256.3(MYBPC3):c.2266C>G (p.Pro756Ala)
|
rs1182126415
|
|
|
NM_000256.3(MYBPC3):c.2277_2278delinsAC (p.Asp760His)
|
|
|
|
NM_000256.3(MYBPC3):c.227A>G (p.Gln76Arg)
|
|
|
|
NM_000256.3(MYBPC3):c.2288A>G (p.Asn763Ser)
|
rs730880527
|
|
|
NM_000256.3(MYBPC3):c.2291T>G (p.Leu764Arg)
|
rs2142856528
|
|
|
NM_000256.3(MYBPC3):c.22C>A (p.Pro8Thr)
|
rs2095901975
|
|
|
NM_000256.3(MYBPC3):c.2321C>T (p.Ala774Val)
|
rs1175711737
|
|
|
NM_000256.3(MYBPC3):c.2326G>A (p.Ala776Thr)
|
rs1247018816
|
|
|
NM_000256.3(MYBPC3):c.2338A>G (p.Ile780Val)
|
|
|
|
NM_000256.3(MYBPC3):c.2343C>A (p.Ser781Arg)
|
|
|
|
NM_000256.3(MYBPC3):c.2347G>A (p.Val783Met)
|
rs1060499878
|
|
|
NM_000256.3(MYBPC3):c.2356G>T (p.Asp786Tyr)
|
rs2142855728
|
|
|
NM_000256.3(MYBPC3):c.2366C>T (p.Thr789Ile)
|
rs2142855718
|
|
|
NM_000256.3(MYBPC3):c.2372A>C (p.Gln791Pro)
|
rs757934210
|
|
|
NM_000256.3(MYBPC3):c.238G>A (p.Ala80Thr)
|
rs730880700
|
|
|
NM_000256.3(MYBPC3):c.238G>T (p.Ala80Ser)
|
rs730880700
|
|
|
NM_000256.3(MYBPC3):c.2390A>G (p.Tyr797Cys)
|
|
|
|
NM_000256.3(MYBPC3):c.2399G>T (p.Gly800Val)
|
rs1273374175
|
|
|
NM_000256.3(MYBPC3):c.239delinsGAGG (p.Ala80delinsGlyGly)
|
rs727504335
|
|
|
NM_000256.3(MYBPC3):c.2404C>A (p.Pro802Thr)
|
rs1270948572
|
|
|
NM_000256.3(MYBPC3):c.2408T>A (p.Ile803Asn)
|
|
|
|
NM_000256.3(MYBPC3):c.2411T>C (p.Leu804Pro)
|
|
|
|
NM_000256.3(MYBPC3):c.2413+3_2413+5del
|
rs1060501482
|
|
|
NM_000256.3(MYBPC3):c.2413+5G>T
|
|
|
|
NM_000256.3(MYBPC3):c.2414-19G>T
|
|
|
|
NM_000256.3(MYBPC3):c.2414-3C>G
|
rs2142855549
|
|
|
NM_000256.3(MYBPC3):c.2414G>T (p.Gly805Val)
|
|
|
|
NM_000256.3(MYBPC3):c.2417A>G (p.Tyr806Cys)
|
rs979085643
|
|
|
NM_000256.3(MYBPC3):c.241G>C (p.Val81Leu)
|
rs999833111
|
|
|
NM_000256.3(MYBPC3):c.241G>T (p.Val81Phe)
|
rs999833111
|
|
|
NM_000256.3(MYBPC3):c.2425G>A (p.Glu809Lys)
|
rs1595843772
|
|
|
NM_000256.3(MYBPC3):c.2425G>C (p.Glu809Gln)
|
|
|
|
NM_000256.3(MYBPC3):c.2428C>G (p.Arg810Gly)
|
rs2095883764
|
|
|
NM_000256.3(MYBPC3):c.2428C>T (p.Arg810Cys)
|
|
|
|
NM_000256.3(MYBPC3):c.2429G>T (p.Arg810Leu)
|
rs375675796
|
|
|
NM_000256.3(MYBPC3):c.2432A>G (p.Lys811Arg)
|
rs1338707268
|
|
|
NM_000256.3(MYBPC3):c.2432AGA[3] (p.Lys814del)
|
rs727504288
|
|
|
NM_000256.3(MYBPC3):c.2435A>G (p.Lys812Arg)
|
rs786204350
|
|
|
NM_000256.3(MYBPC3):c.2441A>G (p.Lys814Arg)
|
rs1565625356
|
|
|
NM_000256.3(MYBPC3):c.2443A>G (p.Ser815Gly)
|
rs2142855470
|
|
|
NM_000256.3(MYBPC3):c.2447A>G (p.Tyr816Cys)
|
rs1565625347
|
|
|
NM_000256.3(MYBPC3):c.2450G>C (p.Arg817Pro)
|
rs397515964
|
|
|
NM_000256.3(MYBPC3):c.2450G>T (p.Arg817Leu)
|
rs397515964
|
|
|
NM_000256.3(MYBPC3):c.2455A>G (p.Met819Val)
|
|
|
|
NM_000256.3(MYBPC3):c.2456T>C (p.Met819Thr)
|
rs876657870
|
|
|
NM_000256.3(MYBPC3):c.2459G>C (p.Arg820Pro)
|
rs2856655
|
|
|
NM_000256.3(MYBPC3):c.245T>C (p.Ile82Thr)
|
rs2142869399
|
|
|
NM_000256.3(MYBPC3):c.2470G>A (p.Asp824Asn)
|
rs774442478
|
|
|
NM_000256.3(MYBPC3):c.2472C>T (p.Asp824=)
|
|
|
|
NM_000256.3(MYBPC3):c.2479C>A (p.Gln827Lys)
|
rs375322174
|
|
|
NM_000256.3(MYBPC3):c.25+3A>G
|
|
|
|
NM_000256.3(MYBPC3):c.25+5C>T
|
|
|
|
NM_000256.3(MYBPC3):c.2501G>A (p.Arg834Gln)
|
|
|
|
NM_000256.3(MYBPC3):c.2503C>G (p.Arg835Gly)
|
rs765356720
|
|
|
NM_000256.3(MYBPC3):c.2504_2505delinsTT (p.Arg835Leu)
|
rs1595843667
|
|
|
NM_000256.3(MYBPC3):c.2506A>G (p.Met836Val)
|
|
|
|
NM_000256.3(MYBPC3):c.2507T>C (p.Met836Thr)
|
rs1555121215
|
|
|
NM_000256.3(MYBPC3):c.2515G>A (p.Gly839Ser)
|
|
|
|
NM_000256.3(MYBPC3):c.2527G>A (p.Glu843Lys)
|
rs730880567
|
|
|
NM_000256.3(MYBPC3):c.2527G>C (p.Glu843Gln)
|
|
|
|
NM_000256.3(MYBPC3):c.2529G>C (p.Glu843Asp)
|
|
|
|
NM_000256.3(MYBPC3):c.2530A>T (p.Met844Leu)
|
rs2142855266
|
|
|
NM_000256.3(MYBPC3):c.2533C>G (p.Arg845Gly)
|
rs727504345
|
|
|
NM_000256.3(MYBPC3):c.2533C>T (p.Arg845Cys)
|
rs727504345
|
|
|
NM_000256.3(MYBPC3):c.2534G>T (p.Arg845Leu)
|
|
|
|
NM_000256.3(MYBPC3):c.2539T>C (p.Tyr847His)
|
rs768963157
|
|
|
NM_000256.3(MYBPC3):c.2540A>C (p.Tyr847Ser)
|
rs864622071
|
|
|
NM_000256.3(MYBPC3):c.2542G>A (p.Ala848Thr)
|
rs747407752
|
|
|
NM_000256.3(MYBPC3):c.2542_2543delinsTG (p.Ala848Trp)
|
rs2142855225
|
|
|
NM_000256.3(MYBPC3):c.2543C>G (p.Ala848Gly)
|
rs730880569
|
|
|
NM_000256.3(MYBPC3):c.2544_2552dup (p.Ala851_Ile852insValAsnAla)
|
|
|
|
NM_000256.3(MYBPC3):c.2545G>C (p.Val849Leu)
|
rs1434265977
|
|
|
NM_000256.3(MYBPC3):c.2546_2547delinsGT (p.Val849Gly)
|
rs1565625181
|
|
|
NM_000256.3(MYBPC3):c.2548A>C (p.Asn850His)
|
rs2142855193
|
|
|
NM_000256.3(MYBPC3):c.2548_2550del (p.Asn850del)
|
|
|
|
NM_000256.3(MYBPC3):c.2550C>G (p.Asn850Lys)
|
|
|
|
NM_000256.3(MYBPC3):c.2555T>C (p.Ile852Thr)
|
rs2142855179
|
|
|
NM_000256.3(MYBPC3):c.2559C>T (p.Gly853=)
|
rs2142855167
|
|
|
NM_000256.3(MYBPC3):c.2560A>T (p.Met854Leu)
|
rs373171036
|
|
|
NM_000256.3(MYBPC3):c.2564C>A (p.Ser855Tyr)
|
rs2142855157
|
|
|
NM_000256.3(MYBPC3):c.2574C>A (p.Ser858Arg)
|
rs1307685460
|
|
|
NM_000256.3(MYBPC3):c.2574C>G (p.Ser858Arg)
|
rs1307685460
|
|
|
NM_000256.3(MYBPC3):c.2596C>A (p.Pro866Thr)
|
rs1283850206
|
|
|
NM_000256.3(MYBPC3):c.25G>A (p.Val9Ile)
|
rs1064793201
|
|
|
NM_000256.3(MYBPC3):c.2601C>G (p.Ile867Met)
|
|
|
|
NM_000256.3(MYBPC3):c.2602G>A (p.Gly868Ser)
|
rs775890771
|
|
|
NM_000256.3(MYBPC3):c.2605C>G (p.Pro869Ala)
|
|
|
|
NM_000256.3(MYBPC3):c.2618C>A (p.Pro873His)
|
rs371401403
|
|
|
NM_000256.3(MYBPC3):c.2618C>T (p.Pro873Leu)
|
rs371401403
|
|
|
NM_000256.3(MYBPC3):c.2624A>G (p.His875Arg)
|
rs774889182
|
|
|
NM_000256.3(MYBPC3):c.2635G>C (p.Glu879Gln)
|
|
|
|
NM_000256.3(MYBPC3):c.2641G>T (p.Val881Phe)
|
rs727504360
|
|
|
NM_000256.3(MYBPC3):c.2659T>A (p.Ser887Thr)
|
|
|
|
NM_000256.3(MYBPC3):c.2674C>A (p.Pro892Thr)
|
rs2095881845
|
|
|
NM_000256.3(MYBPC3):c.2684G>T (p.Arg895Leu)
|
rs372628478
|
|
|
NM_000256.3(MYBPC3):c.2687T>G (p.Val896Gly)
|
rs2095881827
|
|
|
NM_000256.3(MYBPC3):c.2692G>T (p.Ala898Ser)
|
rs1555120929
|
|
|
NM_000256.3(MYBPC3):c.2693C>T (p.Ala898Val)
|
rs752354801
|
|
|
NM_000256.3(MYBPC3):c.2696G>A (p.Gly899Glu)
|
|
|
|
NM_000256.3(MYBPC3):c.2698G>A (p.Gly900Ser)
|
|
|
|
NM_000256.3(MYBPC3):c.2702T>C (p.Leu901Pro)
|
rs767113733
|
|
|
NM_000256.3(MYBPC3):c.2707G>A (p.Gly903Ser)
|
|
|
|
NM_000256.3(MYBPC3):c.2708G>T (p.Gly903Val)
|
rs1007623141
|
|
|
NM_000256.3(MYBPC3):c.2717T>G (p.Val906Gly)
|
|
|
|
NM_000256.3(MYBPC3):c.2735G>T (p.Gly912Val)
|
rs867959512
|
|
|
NM_000256.3(MYBPC3):c.2737+4A>G
|
rs2142853577
|
|
|
NM_000256.3(MYBPC3):c.2737+4_2737+5del
|
rs2095881725
|
|
|
NM_000256.3(MYBPC3):c.2737+4_2737+7del
|
rs1555120911
|
|
|
NM_000256.3(MYBPC3):c.2738-7C>A
|
rs1224814897
|
|
|
NM_000256.3(MYBPC3):c.2738G>A (p.Cys913Tyr)
|
rs2142853042
|
|
|
NM_000256.3(MYBPC3):c.2746T>C (p.Trp916Arg)
|
|
|
|
NM_000256.3(MYBPC3):c.2752G>T (p.Ala918Ser)
|
rs1565624211
|
|
|
NM_000256.3(MYBPC3):c.2773_2781del (p.Glu925_Thr927del)
|
|
|
|
NM_000256.3(MYBPC3):c.2788C>G (p.Leu930Val)
|
rs1399854518
|
|
|
NM_000256.3(MYBPC3):c.2797G>C (p.Asp933His)
|
rs975739535
|
|
|
NM_000256.3(MYBPC3):c.2800C>G (p.Leu934Val)
|
|
|
|
NM_000256.3(MYBPC3):c.2801T>A (p.Leu934Gln)
|
|
|
|
NM_000256.3(MYBPC3):c.2816G>A (p.Arg939Gln)
|
rs946763177
|
|
|
NM_000256.3(MYBPC3):c.2816G>C (p.Arg939Pro)
|
rs946763177
|
|
|
NM_000256.3(MYBPC3):c.2836G>A (p.Ala946Thr)
|
|
|
|
NM_000256.3(MYBPC3):c.2841C>A (p.His947Gln)
|
|
|
|
NM_000256.3(MYBPC3):c.2845A>G (p.Met949Val)
|
|
|
|
NM_000256.3(MYBPC3):c.2849C>T (p.Ala950Val)
|
rs730880577
|
|
|
NM_000256.3(MYBPC3):c.286G>C (p.Glu96Gln)
|
rs1011673088
|
|
|
NM_000256.3(MYBPC3):c.2873C>A (p.Thr958Asn)
|
rs376504548
|
|
|
NM_000256.3(MYBPC3):c.2876C>T (p.Thr959Met)
|
rs730880697
|
|
|
NM_000256.3(MYBPC3):c.2891T>C (p.Val964Ala)
|
|
|
|
NM_000256.3(MYBPC3):c.2904G>C (p.Leu968=)
|
rs747974933
|
|
|
NM_000256.3(MYBPC3):c.2905+3G>C
|
rs1060501483
|
|
|
NM_000256.3(MYBPC3):c.2905+4A>C
|
|
|
|
NM_000256.3(MYBPC3):c.2905+4A>G
|
|
|
|
NM_000256.3(MYBPC3):c.2905+5G>A
|
rs193922381
|
|
|
NM_000256.3(MYBPC3):c.290C>T (p.Ala97Val)
|
rs397515993
|
|
|
NM_000256.3(MYBPC3):c.2911C>T (p.Pro971Ser)
|
|
|
|
NM_000256.3(MYBPC3):c.2917C>T (p.Leu973Phe)
|
|
|
|
NM_000256.3(MYBPC3):c.292+3A>G
|
rs2142869308
|
|
|
NM_000256.3(MYBPC3):c.292+4A>G
|
rs2142869306
|
|
|
NM_000256.3(MYBPC3):c.292+5G>T
|
|
|
|
NM_000256.3(MYBPC3):c.2922G>C (p.Gln974His)
|
|
|
|
NM_000256.3(MYBPC3):c.292G>C (p.Glu98Gln)
|
rs868819340
|
|
|
NM_000256.3(MYBPC3):c.2938C>G (p.Arg980Gly)
|
rs397515994
|
|
|
NM_000256.3(MYBPC3):c.2941C>G (p.Gln981Glu)
|
|
|
|
NM_000256.3(MYBPC3):c.2950C>G (p.Gln984Glu)
|
|
|
|
NM_000256.3(MYBPC3):c.2953AAG[1] (p.Lys986del)
|
rs2095879930
|
|
|
NM_000256.3(MYBPC3):c.2959G>A (p.Val987Ile)
|
rs1565623672
|
|
|
NM_000256.3(MYBPC3):c.2963G>T (p.Gly988Val)
|
rs727504942
|
|
|
NM_000256.3(MYBPC3):c.2965G>A (p.Glu989Lys)
|
rs727503178
|
|
|
NM_000256.3(MYBPC3):c.2968C>G (p.Pro990Ala)
|
rs776100156
|
|
|
NM_000256.3(MYBPC3):c.2979_2981dup (p.Leu994_Ile995insLeu)
|
|
|
|
NM_000256.3(MYBPC3):c.2993A>C (p.Gln998Pro)
|
rs727503177
|
|
|
NM_000256.3(MYBPC3):c.2994+5G>A
|
rs1060501476
|
|
|
NM_000256.3(MYBPC3):c.2994G>A (p.Gln998=)
|
rs1555120639
|
|
|
NM_000256.3(MYBPC3):c.2995-7C>G
|
rs2142851681
|
|
|
NM_000256.3(MYBPC3):c.3019T>C (p.Trp1007Arg)
|
rs730880585
|
|
|
NM_000256.3(MYBPC3):c.3022A>T (p.Thr1008Ser)
|
|
|
|
NM_000256.3(MYBPC3):c.3030G>C (p.Glu1010Asp)
|
|
|
|
NM_000256.3(MYBPC3):c.3065G>A (p.Arg1022His)
|
rs397516000
|
|
|
NM_000256.3(MYBPC3):c.3072C>G (p.Ser1024Arg)
|
rs767605155
|
|
|
NM_000256.3(MYBPC3):c.3080A>G (p.Asp1027Gly)
|
rs996305080
|
|
|
NM_000256.3(MYBPC3):c.3083C>G (p.Thr1028Ser)
|
rs397516002
|
|
|
NM_000256.3(MYBPC3):c.3083C>T (p.Thr1028Ile)
|
rs397516002
|
|
|
NM_000256.3(MYBPC3):c.3086T>A (p.Ile1029Asn)
|
rs730880587
|
|
|
NM_000256.3(MYBPC3):c.3089T>C (p.Leu1030Pro)
|
rs730880588
|
|
|
NM_000256.3(MYBPC3):c.308T>G (p.Met103Arg)
|
|
|
|
NM_000256.3(MYBPC3):c.3124A>G (p.Thr1042Ala)
|
rs2095879490
|
|
|
NM_000256.3(MYBPC3):c.3137C>G (p.Thr1046Arg)
|
rs371061770
|
|
|
NM_000256.3(MYBPC3):c.313G>A (p.Ala105Thr)
|
|
|
|
NM_000256.3(MYBPC3):c.313G>T (p.Ala105Ser)
|
rs1595850248
|
|
|
NM_000256.3(MYBPC3):c.3142C>A (p.Arg1048Ser)
|
rs11570113
|
|
|
NM_000256.3(MYBPC3):c.3145A>T (p.Ile1049Phe)
|
|
|
|
NM_000256.3(MYBPC3):c.3152A>G (p.Asn1051Ser)
|
rs772151277
|
|
|
NM_000256.3(MYBPC3):c.3155T>C (p.Met1052Thr)
|
|
|
|
NM_000256.3(MYBPC3):c.315CCCTGC[2] (p.106PA[2])
|
rs1216799257
|
|
|
NM_000256.3(MYBPC3):c.3160G>A (p.Asp1054Asn)
|
|
|
|
NM_000256.3(MYBPC3):c.316C>G (p.Pro106Ala)
|
|
|
|
NM_000256.3(MYBPC3):c.316C>T (p.Pro106Ser)
|
rs1199038134
|
|
|
NM_000256.3(MYBPC3):c.3173T>G (p.Leu1058Arg)
|
rs1555120576
|
|
|
NM_000256.3(MYBPC3):c.3175G>A (p.Val1059Met)
|
rs754747269
|
|
|
NM_000256.3(MYBPC3):c.3185TTG[1] (p.Val1063del)
|
rs1595841732
|
|
|
NM_000256.3(MYBPC3):c.3188T>C (p.Val1063Ala)
|
rs988454775
|
|
|
NM_000256.3(MYBPC3):c.3188T>G (p.Val1063Gly)
|
|
|
|
NM_000256.3(MYBPC3):c.3190+6T>A
|
rs2142851301
|
|
|
NM_000256.3(MYBPC3):c.3191-3C>G
|
rs1064793891
|
|
|
NM_000256.3(MYBPC3):c.3192C>G (p.Asp1064Glu)
|
rs2095879164
|
|
|
NM_000256.3(MYBPC3):c.3202C>T (p.Pro1068Ser)
|
rs2095879147
|
|
|
NM_000256.3(MYBPC3):c.3203C>T (p.Pro1068Leu)
|
|
|
|
NM_000256.3(MYBPC3):c.3205C>T (p.Pro1069Ser)
|
rs1014555110
|
|
|
NM_000256.3(MYBPC3):c.3209A>G (p.Gln1070Arg)
|
rs1595841598
|
|
|
NM_000256.3(MYBPC3):c.3212A>C (p.Asp1071Ala)
|
|
|
|
NM_000256.3(MYBPC3):c.3212A>T (p.Asp1071Val)
|
rs1445937499
|
|
|
NM_000256.3(MYBPC3):c.3215T>G (p.Leu1072Arg)
|
|
|
|
NM_000256.3(MYBPC3):c.3224C>G (p.Thr1075Ser)
|
rs150786409
|
|
|
NM_000256.3(MYBPC3):c.3229G>A (p.Ala1077Thr)
|
rs397516009
|
|
|
NM_000256.3(MYBPC3):c.323_324inv (p.Pro108Gln)
|
|
|
|
NM_000256.3(MYBPC3):c.3247G>A (p.Ala1083Thr)
|
rs2095879072
|
|
|
NM_000256.3(MYBPC3):c.3257G>C (p.Trp1086Ser)
|
|
|
|
NM_000256.3(MYBPC3):c.325G>A (p.Ala109Thr)
|
rs1307221605
|
|
|
NM_000256.3(MYBPC3):c.3269A>G (p.Gln1090Arg)
|
|
|
|
NM_000256.3(MYBPC3):c.326C>A (p.Ala109Asp)
|
rs397516011
|
|
|
NM_000256.3(MYBPC3):c.3274G>A (p.Val1092Ile)
|
rs778853122
|
|
|
NM_000256.3(MYBPC3):c.3277G>A (p.Gly1093Ser)
|
rs727503173
|
|
|
NM_000256.3(MYBPC3):c.3286G>A (p.Glu1096Lys)
|
rs121909377
|
|
|
NM_000256.3(MYBPC3):c.3294G>C (p.Trp1098Cys)
|
rs767039057
|
|
|
NM_000256.3(MYBPC3):c.3294G>T (p.Trp1098Cys)
|
|
|
|
NM_000256.3(MYBPC3):c.3298T>G (p.Tyr1100Asp)
|
|
|
|
NM_000256.3(MYBPC3):c.3299A>T (p.Tyr1100Phe)
|
rs769925144
|
|
|
NM_000256.3(MYBPC3):c.3302C>T (p.Thr1101Ile)
|
rs2095878977
|
|
|
NM_000256.3(MYBPC3):c.3305T>A (p.Val1102Glu)
|
rs730880590
|
|
|
NM_000256.3(MYBPC3):c.3305T>C (p.Val1102Ala)
|
rs730880590
|
|
|
NM_000256.3(MYBPC3):c.3308A>C (p.Gln1103Pro)
|
rs730880591
|
|
|
NM_000256.3(MYBPC3):c.3313G>C (p.Ala1105Pro)
|
rs2142850793
|
|
|
NM_000256.3(MYBPC3):c.3314C>T (p.Ala1105Val)
|
|
|
|
NM_000256.3(MYBPC3):c.3320AGA[1] (p.Lys1108del)
|
rs767318190
|
|
|
NM_000256.3(MYBPC3):c.3329T>C (p.Met1110Thr)
|
rs1321563978
|
|
|
NM_000256.3(MYBPC3):c.3330+3G>T
|
rs2095878915
|
|
|
NM_000256.3(MYBPC3):c.3331-7C>G
|
rs2095878715
|
|
|
NM_000256.3(MYBPC3):c.3332A>G (p.Glu1111Gly)
|
rs2142850441
|
|
|
NM_000256.3(MYBPC3):c.3335_3337dup (p.Trp1112dup)
|
rs730880673
|
|
|
NM_000256.3(MYBPC3):c.3340_3342del (p.Thr1114del)
|
rs763160213
|
|
|
NM_000256.3(MYBPC3):c.3349G>A (p.Glu1117Lys)
|
rs1555120382
|
|
|
NM_000256.3(MYBPC3):c.335A>T (p.Glu112Val)
|
rs2142868751
|
|
|
NM_000256.3(MYBPC3):c.3364A>T (p.Thr1122Ser)
|
rs996588721
|
|
|
NM_000256.3(MYBPC3):c.3367C>G (p.His1123Asp)
|
|
|
|
NM_000256.3(MYBPC3):c.3374T>C (p.Val1125Ala)
|
rs2095878656
|
|
|
NM_000256.3(MYBPC3):c.3376G>C (p.Val1126Leu)
|
rs1193029862
|
|
|
NM_000256.3(MYBPC3):c.3383A>C (p.Glu1128Ala)
|
rs765817791
|
|
|
NM_000256.3(MYBPC3):c.3396C>T (p.Gly1132=)
|
rs764298445
|
|
|
NM_000256.3(MYBPC3):c.3410T>C (p.Phe1137Ser)
|
|
|
|
NM_000256.3(MYBPC3):c.3418T>G (p.Phe1140Val)
|
|
|
|
NM_000256.3(MYBPC3):c.341C>G (p.Thr114Ser)
|
|
|
|
NM_000256.3(MYBPC3):c.3425A>G (p.Gln1142Arg)
|
|
|
|
NM_000256.3(MYBPC3):c.3442A>C (p.Ser1148Arg)
|
rs370658083
|
|
|
NM_000256.3(MYBPC3):c.3449G>C (p.Arg1150Thr)
|
rs746613719
|
|
|
NM_000256.3(MYBPC3):c.3455C>T (p.Ala1152Val)
|
rs1319448449
|
|
|
NM_000256.3(MYBPC3):c.3458C>G (p.Thr1153Ser)
|
rs2095878539
|
|
|
NM_000256.3(MYBPC3):c.3461C>G (p.Thr1154Ser)
|
rs779279057
|
|
|
NM_000256.3(MYBPC3):c.3466G>A (p.Glu1156Lys)
|
rs1555120359
|
|
|
NM_000256.3(MYBPC3):c.3486A>T (p.Arg1162Ser)
|
rs786204358
|
|
|
NM_000256.3(MYBPC3):c.3490+3G>A
|
rs763653429
|
|
|
NM_000256.3(MYBPC3):c.34T>C (p.Phe12Leu)
|
|
|
|
NM_000256.3(MYBPC3):c.3506C>T (p.Pro1169Leu)
|
rs2095878381
|
|
|
NM_000256.3(MYBPC3):c.3519G>T (p.Lys1173Asn)
|
rs1555120305
|
|
|
NM_000256.3(MYBPC3):c.352G>C (p.Gly118Arg)
|
|
|
|
NM_000256.3(MYBPC3):c.3531C>G (p.Phe1177Leu)
|
rs2095878341
|
|
|
NM_000256.3(MYBPC3):c.353G>C (p.Gly118Ala)
|
rs1565631368
|
|
|
NM_000256.3(MYBPC3):c.3544A>G (p.Ser1182Gly)
|
rs1341188493
|
|
|
NM_000256.3(MYBPC3):c.3545G>C (p.Ser1182Thr)
|
rs1336244582
|
|
|
NM_000256.3(MYBPC3):c.3548T>G (p.Phe1183Cys)
|
rs397516024
|
|
|
NM_000256.3(MYBPC3):c.3550A>G (p.Thr1184Ala)
|
rs1595841096
|
|
|
NM_000256.3(MYBPC3):c.3583G>C (p.Gly1195Arg)
|
|
|
|
NM_000256.3(MYBPC3):c.3584G>A (p.Gly1195Asp)
|
rs730880595
|
|
|
NM_000256.3(MYBPC3):c.3590C>G (p.Thr1197Ser)
|
|
|
|
NM_000256.3(MYBPC3):c.3593C>T (p.Ala1198Val)
|
rs878853834
|
|
|
NM_000256.3(MYBPC3):c.3595A>G (p.Met1199Val)
|
rs1218279399
|
|
|
NM_000256.3(MYBPC3):c.3596T>C (p.Met1199Thr)
|
|
|
|
NM_000256.3(MYBPC3):c.3599T>C (p.Leu1200Pro)
|
rs397516028
|
|
|
NM_000256.3(MYBPC3):c.3614G>C (p.Arg1205Pro)
|
rs730880596
|
|
|
NM_000256.3(MYBPC3):c.3616_3617delinsAA (p.Gly1206Asn)
|
|
|
|
NM_000256.3(MYBPC3):c.3617G>A (p.Gly1206Asp)
|
rs1057517769
|
|
|
NM_000256.3(MYBPC3):c.3622C>G (p.Pro1208Ala)
|
|
|
|
NM_000256.3(MYBPC3):c.3622C>T (p.Pro1208Ser)
|
rs2142849872
|
|
|
NM_000256.3(MYBPC3):c.3623C>G (p.Pro1208Arg)
|
|
|
|
NM_000256.3(MYBPC3):c.3627G>A (p.Lys1209=)
|
rs1555120261
|
|
|
NM_000256.3(MYBPC3):c.3628-12C>G
|
|
|
|
NM_000256.3(MYBPC3):c.3628C>T (p.Pro1210Ser)
|
rs1293774054
|
|
|
NM_000256.3(MYBPC3):c.362C>T (p.Pro121Leu)
|
rs551888783
|
|
|
NM_000256.3(MYBPC3):c.3639C>T (p.Ser1213=)
|
|
|
|
NM_000256.3(MYBPC3):c.3641G>C (p.Trp1214Ser)
|
|
|
|
NM_000256.3(MYBPC3):c.3644T>A (p.Phe1215Tyr)
|
|
|
|
NM_000256.3(MYBPC3):c.3647A>C (p.Lys1216Thr)
|
rs1595840860
|
|
|
NM_000256.3(MYBPC3):c.3647A>G (p.Lys1216Arg)
|
rs1595840860
|
|
|
NM_000256.3(MYBPC3):c.3648G>T (p.Lys1216Asn)
|
|
|
|
NM_000256.3(MYBPC3):c.3653G>C (p.Gly1218Ala)
|
rs2142849541
|
|
|
NM_000256.3(MYBPC3):c.3659A>C (p.Asp1220Ala)
|
|
|
|
NM_000256.3(MYBPC3):c.365C>A (p.Ala122Asp)
|
|
|
|
NM_000256.3(MYBPC3):c.3662T>C (p.Leu1221Pro)
|
rs2095877881
|
|
|
NM_000256.3(MYBPC3):c.3668A>G (p.Glu1223Gly)
|
rs372821359
|
|
|
NM_000256.3(MYBPC3):c.3669A>T (p.Glu1223Asp)
|
rs1565622424
|
|
|
NM_000256.3(MYBPC3):c.3670G>A (p.Asp1224Asn)
|
rs768751160
|
|
|
NM_000256.3(MYBPC3):c.367C>T (p.Pro123Ser)
|
|
|
|
NM_000256.3(MYBPC3):c.3688T>C (p.Phe1230Leu)
|
rs1198431305
|
|
|
NM_000256.3(MYBPC3):c.3701G>A (p.Gly1234Glu)
|
rs2095877793
|
|
|
NM_000256.3(MYBPC3):c.3701G>T (p.Gly1234Val)
|
rs2095877793
|
|
|
NM_000256.3(MYBPC3):c.3703G>T (p.Val1235Leu)
|
rs1555120162
|
|
|
NM_000256.3(MYBPC3):c.3709A>C (p.Thr1237Pro)
|
rs727503168
|
|
|
NM_000256.3(MYBPC3):c.3716A>G (p.Glu1239Gly)
|
rs1085308024
|
|
|
NM_000256.3(MYBPC3):c.3718A>G (p.Ile1240Val)
|
|
|
|
NM_000256.3(MYBPC3):c.3719T>A (p.Ile1240Asn)
|
rs1565622348
|
|
|
NM_000256.3(MYBPC3):c.371C>T (p.Ala124Val)
|
|
|
|
NM_000256.3(MYBPC3):c.3724A>G (p.Lys1242Glu)
|
rs1030727866
|
|
|
NM_000256.3(MYBPC3):c.3728C>A (p.Pro1243His)
|
|
|
|
NM_000256.3(MYBPC3):c.3734C>T (p.Pro1245Leu)
|
|
|
|
NM_000256.3(MYBPC3):c.3737T>C (p.Phe1246Ser)
|
rs786204361
|
|
|
NM_000256.3(MYBPC3):c.3739G>A (p.Asp1247Asn)
|
|
|
|
NM_000256.3(MYBPC3):c.3739G>T (p.Asp1247Tyr)
|
|
|
|
NM_000256.3(MYBPC3):c.373G>A (p.Ala125Thr)
|
rs370958401
|
|
|
NM_000256.3(MYBPC3):c.3746G>T (p.Gly1249Val)
|
rs727504259
|
|
|
NM_000256.3(MYBPC3):c.374C>T (p.Ala125Val)
|
|
|
|
NM_000256.3(MYBPC3):c.3751T>G (p.Tyr1251Asp)
|
rs730880601
|
|
|
NM_000256.3(MYBPC3):c.3752A>G (p.Tyr1251Cys)
|
rs730880602
|
|
|
NM_000256.3(MYBPC3):c.3758G>A (p.Cys1253Tyr)
|
|
|
|
NM_000256.3(MYBPC3):c.3760A>G (p.Arg1254Gly)
|
|
|
|
NM_000256.3(MYBPC3):c.3762G>A (p.Arg1254=)
|
|
|
|
NM_000256.3(MYBPC3):c.3764C>A (p.Ala1255Asp)
|
rs727504722
|
|
|
NM_000256.3(MYBPC3):c.3764C>G (p.Ala1255Gly)
|
rs727504722
|
|
|
NM_000256.3(MYBPC3):c.3767C>T (p.Thr1256Ile)
|
rs775370325
|
|
|
NM_000256.3(MYBPC3):c.3770A>G (p.Asn1257Ser)
|
rs2142849248
|
|
|
NM_000256.3(MYBPC3):c.3773T>C (p.Leu1258Ser)
|
rs730880604
|
|
|
NM_000256.3(MYBPC3):c.3778G>C (p.Gly1260Arg)
|
rs1555120117
|
|
|
NM_000256.3(MYBPC3):c.3782_3784dup (p.Glu1261_Ala1262insGlu)
|
|
|
|
NM_000256.3(MYBPC3):c.3784G>A (p.Ala1262Thr)
|
|
|
|
NM_000256.3(MYBPC3):c.3788G>A (p.Arg1263Gln)
|
|
|
|
NM_000256.3(MYBPC3):c.3788G>T (p.Arg1263Leu)
|
rs781180230
|
|
|
NM_000256.3(MYBPC3):c.3791G>A (p.Cys1264Tyr)
|
rs397514751
|
|
|
NM_000256.3(MYBPC3):c.3791G>T (p.Cys1264Phe)
|
rs397514751
|
|
|
NM_000256.3(MYBPC3):c.3793G>A (p.Glu1265Lys)
|
rs751527360
|
|
|
NM_000256.3(MYBPC3):c.3797G>A (p.Cys1266Tyr)
|
rs397516041
|
|
|
NM_000256.3(MYBPC3):c.3798C>G (p.Cys1266Trp)
|
rs1312046345
|
|
|
NM_000256.3(MYBPC3):c.3802C>G (p.Leu1268Val)
|
rs2095877612
|
|
|
NM_000256.3(MYBPC3):c.3803T>C (p.Leu1268Pro)
|
rs786204363
|
|
|
NM_000256.3(MYBPC3):c.3808G>A (p.Val1270Met)
|
rs1064796634
|
|
|
NM_000256.3(MYBPC3):c.3809T>C (p.Val1270Ala)
|
|
|
|
NM_000256.3(MYBPC3):c.3809T>G (p.Val1270Gly)
|
rs1064793310
|
|
|
NM_000256.3(MYBPC3):c.3812G>C (p.Arg1271Pro)
|
rs762225417
|
|
|
NM_000256.3(MYBPC3):c.3814+16_3814+17delinsAA
|
|
|
|
NM_000256.3(MYBPC3):c.3814+1G>A
|
rs1057521823
|
|
|
NM_000256.3(MYBPC3):c.3814+1G>C
|
rs1057521823
|
|
|
NM_000256.3(MYBPC3):c.3814+3G>A
|
|
|
|
NM_000256.3(MYBPC3):c.3814G>C (p.Val1272Leu)
|
rs730880609
|
|
|
NM_000256.3(MYBPC3):c.3815-11_3815-9del
|
rs1329380245
|
|
|
NM_000256.3(MYBPC3):c.3825A>G (p.Ter1275Trp)
|
rs727504380
|
|
|
NM_000256.3(MYBPC3):c.3G>C (p.Met1Ile)
|
rs397516045
|
|
|
NM_000256.3(MYBPC3):c.406G>A (p.Gly136Arg)
|
rs730880613
|
|
|
NM_000256.3(MYBPC3):c.406G>C (p.Gly136Arg)
|
|
|
|
NM_000256.3(MYBPC3):c.407-14G>C
|
|
|
|
NM_000256.3(MYBPC3):c.407-20_407-19del
|
|
|
|
NM_000256.3(MYBPC3):c.407-3C>T
|
rs2095899059
|
|
|
NM_000256.3(MYBPC3):c.407-7C>A
|
rs1595849981
|
|
|
NM_000256.3(MYBPC3):c.409T>A (p.Ser137Thr)
|
rs2095899043
|
|
|
NM_000256.3(MYBPC3):c.416C>T (p.Ser139Leu)
|
|
|
|
NM_000256.3(MYBPC3):c.424C>G (p.Leu142Val)
|
rs2142868228
|
|
|
NM_000256.3(MYBPC3):c.433C>T (p.Pro145Ser)
|
|
|
|
NM_000256.3(MYBPC3):c.436A>G (p.Thr146Ala)
|
rs397516048
|
|
|
NM_000256.3(MYBPC3):c.437C>A (p.Thr146Asn)
|
rs780458215
|
|
|
NM_000256.3(MYBPC3):c.445G>A (p.Ala149Thr)
|
|
|
|
NM_000256.3(MYBPC3):c.446C>A (p.Ala149Asp)
|
rs779493486
|
|
|
NM_000256.3(MYBPC3):c.457C>T (p.Pro153Ser)
|
|
|
|
NM_000256.3(MYBPC3):c.458C>A (p.Pro153His)
|
rs756328813
|
|
|
NM_000256.3(MYBPC3):c.460A>T (p.Ile154Phe)
|
rs2142868165
|
|
|
NM_000256.3(MYBPC3):c.476T>G (p.Met159Arg)
|
rs1305012073
|
|
|
NM_000256.3(MYBPC3):c.481C>T (p.Pro161Ser)
|
rs397516053
|
|
|
NM_000256.3(MYBPC3):c.488A>G (p.Asp163Gly)
|
rs2142868062
|
|
|
NM_000256.3(MYBPC3):c.496G>A (p.Val166Met)
|
rs2095898844
|
|
|
NM_000256.3(MYBPC3):c.497T>G (p.Val166Gly)
|
rs876661366
|
|
|
NM_000256.3(MYBPC3):c.502G>C (p.Val168Leu)
|
rs569740494
|
|
|
NM_000256.3(MYBPC3):c.503T>C (p.Val168Ala)
|
rs727505267
|
|
|
NM_000256.3(MYBPC3):c.505+4_505+5del
|
|
|
|
NM_000256.3(MYBPC3):c.505+4_505+7dup
|
|
|
|
NM_000256.3(MYBPC3):c.505+5G>A
|
|
|
|
NM_000256.3(MYBPC3):c.505G>C (p.Gly169Arg)
|
rs886039212
|
|
|
NM_000256.3(MYBPC3):c.506G>T (p.Gly169Val)
|
|
|
|
NM_000256.3(MYBPC3):c.518C>A (p.Thr173Asn)
|
rs113941605
|
|
|
NM_000256.3(MYBPC3):c.518C>T (p.Thr173Ile)
|
rs113941605
|
|
|
NM_000256.3(MYBPC3):c.521_523del (p.Phe174del)
|
rs730880722
|
|
|
NM_000256.3(MYBPC3):c.522_524del (p.Phe174_Ser175delinsLeu)
|
rs2142867843
|
|
|
NM_000256.3(MYBPC3):c.526_527delinsAG (p.Ala176Ser)
|
rs2142867837
|
|
|
NM_000256.3(MYBPC3):c.527C>G (p.Ala176Gly)
|
|
|
|
NM_000256.3(MYBPC3):c.530G>C (p.Arg177Pro)
|
rs201012766
|
|
|
NM_000256.3(MYBPC3):c.532G>A (p.Val178Met)
|
rs727503218
|
|
|
NM_000256.3(MYBPC3):c.535_536delinsAA (p.Ala179Asn)
|
rs2142867813
|
|
|
NM_000256.3(MYBPC3):c.539G>A (p.Gly180Asp)
|
rs867571018
|
|
|
NM_000256.3(MYBPC3):c.541G>A (p.Ala181Thr)
|
rs773646282
|
|
|
NM_000256.3(MYBPC3):c.560C>G (p.Pro187Arg)
|
rs2095898553
|
|
|
NM_000256.3(MYBPC3):c.566T>A (p.Val189Asp)
|
rs397516060
|
|
|
NM_000256.3(MYBPC3):c.56T>G (p.Val19Gly)
|
rs1247917628
|
|
|
NM_000256.3(MYBPC3):c.581G>A (p.Gly194Asp)
|
rs1565630919
|
|
|
NM_000256.3(MYBPC3):c.584A>G (p.Lys195Arg)
|
rs2142867738
|
|
|
NM_000256.3(MYBPC3):c.588G>C (p.Trp196Cys)
|
rs727503215
|
|
|
NM_000256.3(MYBPC3):c.62T>C (p.Val21Ala)
|
rs1362750360
|
|
|
NM_000256.3(MYBPC3):c.640G>T (p.Asp214Tyr)
|
|
|
|
NM_000256.3(MYBPC3):c.644G>A (p.Arg215His)
|
|
|
|
NM_000256.3(MYBPC3):c.647C>A (p.Ala216Asp)
|
rs2142867637
|
|
|
NM_000256.3(MYBPC3):c.650G>A (p.Ser217Asn)
|
rs1047547145
|
|
|
NM_000256.3(MYBPC3):c.653A>G (p.Lys218Arg)
|
rs730880707
|
|
|
NM_000256.3(MYBPC3):c.654+5G>A
|
rs397516066
|
|
|
NM_000256.3(MYBPC3):c.654+5G>C
|
rs397516066
|
|
|
NM_000256.3(MYBPC3):c.654G>A (p.Lys218=)
|
rs2095898361
|
|
|
NM_000256.3(MYBPC3):c.664T>C (p.Phe222Leu)
|
|
|
|
NM_000256.3(MYBPC3):c.675C>A (p.His225Gln)
|
|
|
|
NM_000256.3(MYBPC3):c.676A>G (p.Ile226Val)
|
rs1336201335
|
|
|
NM_000256.3(MYBPC3):c.67G>C (p.Ala23Pro)
|
rs758044508
|
|
|
NM_000256.3(MYBPC3):c.683A>G (p.Asp228Gly)
|
rs2142866342
|
|
|
NM_000256.3(MYBPC3):c.700A>G (p.Thr234Ala)
|
|
|
|
NM_000256.3(MYBPC3):c.701C>A (p.Thr234Asn)
|
|
|
|
NM_000256.3(MYBPC3):c.709T>C (p.Tyr237His)
|
rs730880624
|
|
|
NM_000256.3(MYBPC3):c.716G>A (p.Cys239Tyr)
|
rs776541959
|
|
|
NM_000256.3(MYBPC3):c.716G>C (p.Cys239Ser)
|
rs776541959
|
|
|
NM_000256.3(MYBPC3):c.719A>C (p.Glu240Ala)
|
rs1258661494
|
|
|
NM_000256.3(MYBPC3):c.719A>G (p.Glu240Gly)
|
|
|
|
NM_000256.3(MYBPC3):c.721G>A (p.Val241Met)
|
rs886039000
|
|
|
NM_000256.3(MYBPC3):c.722T>A (p.Val241Glu)
|
rs1595848896
|
|
|
NM_000256.3(MYBPC3):c.722T>C (p.Val241Ala)
|
rs1595848896
|
|
|
NM_000256.3(MYBPC3):c.722T>G (p.Val241Gly)
|
rs1595848896
|
|
|
NM_000256.3(MYBPC3):c.727A>C (p.Thr243Pro)
|
rs730880625
|
|
|
NM_000256.3(MYBPC3):c.740T>A (p.Phe247Tyr)
|
rs1287929313
|
|
|
NM_000256.3(MYBPC3):c.748T>C (p.Ser250Pro)
|
rs2095896741
|
|
|
NM_000256.3(MYBPC3):c.74_80delinsCTTCCTCGGT (p.Ser25_Ala27delinsThrSerSerVal)
|
|
|
|
NM_000256.3(MYBPC3):c.754T>C (p.Phe252Leu)
|
rs1565630281
|
|
|
NM_000256.3(MYBPC3):c.756C>A (p.Phe252Leu)
|
rs876661367
|
|
|
NM_000256.3(MYBPC3):c.763A>C (p.Thr255Pro)
|
|
|
|
NM_000256.3(MYBPC3):c.76C>T (p.Pro26Ser)
|
|
|
|
NM_000256.3(MYBPC3):c.770A>G (p.His257Arg)
|
rs890299857
|
|
|
NM_000256.3(MYBPC3):c.772+5G>A
|
rs730880626
|
|
|
NM_000256.3(MYBPC3):c.772+8G>T
|
rs2095896696
|
|
|
NM_000256.3(MYBPC3):c.772G>C (p.Glu258Gln)
|
|
|
|
NM_000256.3(MYBPC3):c.792C>G (p.Asp264Glu)
|
|
|
|
NM_000256.3(MYBPC3):c.805T>C (p.Ser269Pro)
|
|
|
|
NM_000256.3(MYBPC3):c.821+3G>A
|
|
|
|
NM_000256.3(MYBPC3):c.821+4_821+5del
|
|
|
|
NM_000256.3(MYBPC3):c.821+5G>C
|
rs397516077
|
|
|
NM_000256.3(MYBPC3):c.821+6T>C
|
rs2095895947
|
|
|
NM_000256.3(MYBPC3):c.821C>A (p.Thr274Lys)
|
rs748746951
|
|
|
NM_000256.3(MYBPC3):c.822-8C>G
|
rs2095895753
|
|
|
NM_000256.3(MYBPC3):c.823A>G (p.Ser275Gly)
|
|
|
|
NM_000256.3(MYBPC3):c.841C>G (p.Arg281Gly)
|
rs371711564
|
|
|
NM_000256.3(MYBPC3):c.850A>T (p.Ser284Cys)
|
rs776075902
|
|
|
NM_000256.3(MYBPC3):c.851+3_851+8del
|
rs2142865359
|
|
|
NM_000256.3(MYBPC3):c.851+4C>T
|
|
|
|
NM_000256.3(MYBPC3):c.851+5C>T
|
|
|
|
NM_000256.3(MYBPC3):c.852-24_852-19del
|
|
|
|
NM_000256.3(MYBPC3):c.852-7T>G
|
|
|
|
NM_000256.3(MYBPC3):c.852T>C (p.Ser284=)
|
rs2142865236
|
|
|
NM_000256.3(MYBPC3):c.857G>A (p.Ser286Asn)
|
|
|
|
NM_000256.3(MYBPC3):c.858C>A (p.Ser286Arg)
|
rs1427676922
|
|
|
NM_000256.3(MYBPC3):c.866A>G (p.Asp289Gly)
|
rs2142865222
|
|
|
NM_000256.3(MYBPC3):c.872G>T (p.Gly291Val)
|
rs1555122934
|
|
|
NM_000256.3(MYBPC3):c.879G>A (p.Leu293=)
|
|
|
|
NM_000256.3(MYBPC3):c.890C>T (p.Ser297Leu)
|
|
|
|
NM_000256.3(MYBPC3):c.905+5G>A
|
|
|
|
NM_000256.3(MYBPC3):c.905G>C (p.Arg302Thr)
|
rs1414396886
|
|
|
NM_000256.3(MYBPC3):c.906-13T>A
|
rs730881219
|
|
|
NM_000256.3(MYBPC3):c.909-7G>A
|
rs1373705247
|
|
|
NM_000256.3(MYBPC3):c.913T>C (p.Phe305Leu)
|
rs2095894478
|
|
|
NM_000256.3(MYBPC3):c.922C>G (p.Pro308Ala)
|
|
|
|
NM_000256.3(MYBPC3):c.926+4A>G
|
rs397516081
|
|
|
NM_000256.3(MYBPC3):c.926+5G>A
|
|
|
|
NM_000256.3(MYBPC3):c.926G>A (p.Arg309Lys)
|
|
|
|
NM_000256.3(MYBPC3):c.927-10C>G
|
rs201078659
|
|
|
NM_000256.3(MYBPC3):c.927-12T>G
|
|
|
|
NM_000256.3(MYBPC3):c.927-13C>G
|
|
|
|
NM_000256.3(MYBPC3):c.927-3C>G
|
|
|
|
NM_000256.3(MYBPC3):c.931T>C (p.Ser311Pro)
|
rs397516084
|
|
|
NM_000256.3(MYBPC3):c.932C>G (p.Ser311Trp)
|
|
|
|
NM_000256.3(MYBPC3):c.932C>T (p.Ser311Leu)
|
rs193922386
|
|
|
NM_000256.3(MYBPC3):c.947C>T (p.Pro316Leu)
|
rs2095894123
|
|
|
NM_000256.3(MYBPC3):c.94G>C (p.Glu32Gln)
|
|
|
|
NM_000256.3(MYBPC3):c.956A>T (p.Glu319Val)
|
|
|
|
NM_000256.3(MYBPC3):c.967G>A (p.Glu323Lys)
|
|
|
|
NM_000256.3(MYBPC3):c.970A>G (p.Ile324Val)
|
rs765732047
|
|
|
NM_000256.3(MYBPC3):c.976C>T (p.Arg326Trp)
|
rs776681371
|
|
|
NM_000256.3(MYBPC3):c.97A>G (p.Thr33Ala)
|
rs1265723882
|
|
|
NM_000256.3(MYBPC3):c.986C>T (p.Pro329Leu)
|
rs1595847781
|
|
|
NM_000256.3(MYBPC3):c.988C>A (p.Pro330Thr)
|
rs1369307553
|
|
|
NM_000256.3(MYBPC3):c.98C>T (p.Thr33Ile)
|
|
|
|
NM_000257.4(MYH7):c.1000-14G>A
|
|
|
|
NM_000257.4(MYH7):c.1003G>C (p.Ala335Pro)
|
rs727503272
|
|
|
NM_000257.4(MYH7):c.1004C>T (p.Ala335Val)
|
|
|
|
NM_000257.4(MYH7):c.1013T>C (p.Val338Ala)
|
rs397516087
|
|
|
NM_000257.4(MYH7):c.1015C>A (p.Leu339Met)
|
|
|
|
NM_000257.4(MYH7):c.1021T>A (p.Phe341Ile)
|
rs2138677574
|
|
|
NM_000257.4(MYH7):c.1023C>G (p.Phe341Leu)
|
|
|
|
NM_000257.4(MYH7):c.1024A>C (p.Thr342Pro)
|
rs1892857708
|
|
|
NM_000257.4(MYH7):c.1025C>T (p.Thr342Ile)
|
|
|
|
NM_000257.4(MYH7):c.1030G>A (p.Glu344Lys)
|
rs730880862
|
|
|
NM_000257.4(MYH7):c.1033G>A (p.Glu345Lys)
|
|
|
|
NM_000257.4(MYH7):c.1042T>C (p.Ser348Pro)
|
rs2138677513
|
|
|
NM_000257.4(MYH7):c.1052A>T (p.Lys351Met)
|
rs1555338462
|
|
|
NM_000257.4(MYH7):c.1058C>T (p.Thr353Ile)
|
rs1892855882
|
|
|
NM_000257.4(MYH7):c.1063G>C (p.Ala355Pro)
|
rs397516088
|
|
|
NM_000257.4(MYH7):c.1063G>T (p.Ala355Ser)
|
rs397516088
|
|
|
NM_000257.4(MYH7):c.1069A>T (p.Met357Leu)
|
|
|
|
NM_000257.4(MYH7):c.1070T>A (p.Met357Lys)
|
|
|
|
NM_000257.4(MYH7):c.1085T>C (p.Met362Thr)
|
rs1210839181
|
|
|
NM_000257.4(MYH7):c.1090T>C (p.Phe364Leu)
|
rs1793561613
|
|
|
NM_000257.4(MYH7):c.1093A>C (p.Lys365Gln)
|
|
|
|
NM_000257.4(MYH7):c.1094A>C (p.Lys365Thr)
|
rs2138677318
|
|
|
NM_000257.4(MYH7):c.1105C>T (p.Arg369Trp)
|
rs1318155896
|
|
|
NM_000257.4(MYH7):c.1108G>A (p.Glu370Lys)
|
rs1892853470
|
|
|
NM_000257.4(MYH7):c.1108del (p.Glu370fs)
|
|
|
|
NM_000257.4(MYH7):c.1109A>T (p.Glu370Val)
|
|
|
|
NM_000257.4(MYH7):c.1113G>C (p.Glu371Asp)
|
rs1892853203
|
|
|
NM_000257.4(MYH7):c.1118C>A (p.Ala373Glu)
|
|
|
|
NM_000257.4(MYH7):c.1120G>A (p.Glu374Lys)
|
rs1566535805
|
|
|
NM_000257.4(MYH7):c.1121A>C (p.Glu374Ala)
|
rs1489128381
|
|
|
NM_000257.4(MYH7):c.1121A>T (p.Glu374Val)
|
|
|
|
NM_000257.4(MYH7):c.1129G>A (p.Gly377Ser)
|
rs773599095
|
|
|
NM_000257.4(MYH7):c.1130G>A (p.Gly377Asp)
|
rs1085307959
|
|
|
NM_000257.4(MYH7):c.1130G>C (p.Gly377Ala)
|
|
|
|
NM_000257.4(MYH7):c.1132A>C (p.Thr378Pro)
|
rs397516090
|
|
|
NM_000257.4(MYH7):c.1135G>A (p.Glu379Lys)
|
rs730880866
|
|
|
NM_000257.4(MYH7):c.1136A>C (p.Glu379Ala)
|
rs2138677166
|
|
|
NM_000257.4(MYH7):c.1138+5del
|
|
|
|
NM_000257.4(MYH7):c.113T>C (p.Phe38Ser)
|
|
|
|
NM_000257.4(MYH7):c.1142C>A (p.Ala381Asp)
|
rs1265368591
|
|
|
NM_000257.4(MYH7):c.1144G>C (p.Asp382His)
|
rs878853836
|
|
|
NM_000257.4(MYH7):c.1150T>C (p.Ser384Pro)
|
rs1892827655
|
|
|
NM_000257.4(MYH7):c.1159C>G (p.Leu387Val)
|
rs1555338378
|
|
|
NM_000257.4(MYH7):c.1163T>C (p.Met388Thr)
|
rs1595087175
|
|
|
NM_000257.4(MYH7):c.1164G>A (p.Met388Ile)
|
rs1595087168
|
|
|
NM_000257.4(MYH7):c.1166G>A (p.Gly389Glu)
|
rs727503268
|
|
|
NM_000257.4(MYH7):c.1168C>G (p.Leu390Val)
|
|
|
|
NM_000257.4(MYH7):c.1172A>G (p.Asn391Ser)
|
rs1566535452
|
|
|
NM_000257.4(MYH7):c.1174T>A (p.Ser392Thr)
|
rs1555338377
|
|
|
NM_000257.4(MYH7):c.1177G>C (p.Ala393Pro)
|
rs730880925
|
|
|
NM_000257.4(MYH7):c.1178C>A (p.Ala393Asp)
|
rs869025477
|
|
|
NM_000257.4(MYH7):c.1178C>T (p.Ala393Val)
|
rs869025477
|
|
|
NM_000257.4(MYH7):c.1180G>A (p.Asp394Asn)
|
rs397516093
|
|
|
NM_000257.4(MYH7):c.1183C>A (p.Leu395Met)
|
|
|
|
NM_000257.4(MYH7):c.1184T>C (p.Leu395Pro)
|
rs1555338374
|
|
|
NM_000257.4(MYH7):c.1184T>G (p.Leu395Arg)
|
rs1555338374
|
|
|
NM_000257.4(MYH7):c.1186C>A (p.Leu396Ile)
|
|
|
|
NM_000257.4(MYH7):c.1187T>C (p.Leu396Pro)
|
rs1060501447
|
|
|
NM_000257.4(MYH7):c.1187T>G (p.Leu396Arg)
|
rs1060501447
|
|
|
NM_000257.4(MYH7):c.118C>T (p.Pro40Ser)
|
rs1893037347
|
|
|
NM_000257.4(MYH7):c.1191G>C (p.Lys397Asn)
|
|
|
|
NM_000257.4(MYH7):c.1198dup (p.Cys400fs)
|
rs2138675954
|
|
|
NM_000257.4(MYH7):c.11C>G (p.Ser4Trp)
|
rs758659692
|
|
|
NM_000257.4(MYH7):c.1200C>G (p.Cys400Trp)
|
rs374806617
|
|
|
NM_000257.4(MYH7):c.1201del (p.His401fs)
|
rs2138675940
|
|
|
NM_000257.4(MYH7):c.1204C>T (p.Pro402Ser)
|
rs397516094
|
|
|
NM_000257.4(MYH7):c.1205C>A (p.Pro402His)
|
rs1555338370
|
|
|
NM_000257.4(MYH7):c.1208G>C (p.Arg403Pro)
|
rs121913624
|
|
|
NM_000257.4(MYH7):c.1210G>A (p.Val404Met)
|
rs730880867
|
|
|
NM_000257.4(MYH7):c.1217T>C (p.Val406Ala)
|
rs2138675887
|
|
|
NM_000257.4(MYH7):c.1217_1218del (p.Val406fs)
|
rs1892824277
|
|
|
NM_000257.4(MYH7):c.121G>A (p.Asp41Asn)
|
rs1157169154
|
|
|
NM_000257.4(MYH7):c.1224T>A (p.Asn408Lys)
|
rs1057518877
|
|
|
NM_000257.4(MYH7):c.1226A>G (p.Glu409Gly)
|
|
|
|
NM_000257.4(MYH7):c.1228T>C (p.Tyr410His)
|
|
|
|
NM_000257.4(MYH7):c.1230C>G (p.Tyr410Ter)
|
rs150885220
|
|
|
NM_000257.4(MYH7):c.1234A>G (p.Thr412Ala)
|
rs730880869
|
|
|
NM_000257.4(MYH7):c.1240G>A (p.Gly414Arg)
|
|
|
|
NM_000257.4(MYH7):c.1246A>C (p.Asn416His)
|
|
|
|
NM_000257.4(MYH7):c.1253A>C (p.Gln418Pro)
|
rs2138675766
|
|
|
NM_000257.4(MYH7):c.1264T>G (p.Tyr422Asp)
|
rs730880926
|
|
|
NM_000257.4(MYH7):c.1265A>G (p.Tyr422Cys)
|
rs1892816286
|
|
|
NM_000257.4(MYH7):c.1268C>T (p.Ala423Val)
|
rs1177694963
|
|
|
NM_000257.4(MYH7):c.1275_1282del (p.Ala426fs)
|
rs1892815450
|
|
|
NM_000257.4(MYH7):c.1279C>G (p.Leu427Val)
|
rs1267329552
|
|
|
NM_000257.4(MYH7):c.1283C>T (p.Ala428Val)
|
rs727503266
|
|
|
NM_000257.4(MYH7):c.1285A>G (p.Lys429Glu)
|
rs2138675381
|
|
|
NM_000257.4(MYH7):c.1288G>A (p.Ala430Thr)
|
|
|
|
NM_000257.4(MYH7):c.1291G>A (p.Val431Met)
|
rs606231322
|
|
|
NM_000257.4(MYH7):c.129del (p.Lys43fs)
|
rs1364012197
|
|
|
NM_000257.4(MYH7):c.1303A>C (p.Met435Leu)
|
rs1240750957
|
|
|
NM_000257.4(MYH7):c.1304T>A (p.Met435Lys)
|
rs1484300349
|
|
|
NM_000257.4(MYH7):c.1304T>C (p.Met435Thr)
|
rs1484300349
|
|
|
NM_000257.4(MYH7):c.1304T>G (p.Met435Arg)
|
rs1484300349
|
|
|
NM_000257.4(MYH7):c.1306T>C (p.Phe436Leu)
|
|
|
|
NM_000257.4(MYH7):c.1311C>A (p.Asn437Lys)
|
rs1595086845
|
|
|
NM_000257.4(MYH7):c.1314G>C (p.Trp438Cys)
|
|
|
|
NM_000257.4(MYH7):c.1318G>A (p.Val440Met)
|
rs397516098
|
|
|
NM_000257.4(MYH7):c.1319T>C (p.Val440Ala)
|
rs1244840759
|
|
|
NM_000257.4(MYH7):c.1325G>C (p.Arg442Pro)
|
rs730880870
|
|
|
NM_000257.4(MYH7):c.1327A>T (p.Ile443Phe)
|
|
|
|
NM_000257.4(MYH7):c.133G>A (p.Glu45Lys)
|
|
|
|
NM_000257.4(MYH7):c.1346C>A (p.Thr449Asn)
|
|
|
|
NM_000257.4(MYH7):c.1346C>T (p.Thr449Ile)
|
rs1892812435
|
|
|
NM_000257.4(MYH7):c.1348A>G (p.Lys450Glu)
|
rs1403027088
|
|
|
NM_000257.4(MYH7):c.134A>G (p.Glu45Gly)
|
rs864622383
|
|
|
NM_000257.4(MYH7):c.1351C>G (p.Gln451Glu)
|
rs730880871
|
|
|
NM_000257.4(MYH7):c.1354C>T (p.Pro452Ser)
|
|
|
|
NM_000257.4(MYH7):c.135G>C (p.Glu45Asp)
|
rs397516102
|
|
|
NM_000257.4(MYH7):c.1366_1371dup (p.Phe456_Ile457dup)
|
rs1386136433
|
|
|
NM_000257.4(MYH7):c.136T>C (p.Phe46Leu)
|
rs1893036458
|
|
|
NM_000257.4(MYH7):c.1373G>T (p.Gly458Val)
|
rs1595086725
|
|
|
NM_000257.4(MYH7):c.1373dup (p.Val459fs)
|
rs2138675116
|
|
|
NM_000257.4(MYH7):c.1375G>C (p.Val459Leu)
|
rs1892810348
|
|
|
NM_000257.4(MYH7):c.137T>A (p.Phe46Tyr)
|
|
|
|
NM_000257.4(MYH7):c.1382A>G (p.Asp461Gly)
|
|
|
|
NM_000257.4(MYH7):c.1383C>A (p.Asp461Glu)
|
rs776583355
|
|
|
NM_000257.4(MYH7):c.1387G>A (p.Ala463Thr)
|
rs2138675059
|
|
|
NM_000257.4(MYH7):c.1387G>T (p.Ala463Ser)
|
|
|
|
NM_000257.4(MYH7):c.1390G>A (p.Gly464Ser)
|
rs1892809660
|
|
|
NM_000257.4(MYH7):c.1396G>A (p.Glu466Lys)
|
rs4981473
|
|
|
NM_000257.4(MYH7):c.1396G>C (p.Glu466Gln)
|
rs4981473
|
|
|
NM_000257.4(MYH7):c.1405G>T (p.Asp469Tyr)
|
rs397516106
|
|
|
NM_000257.4(MYH7):c.1408-12T>A
|
|
|
|
NM_000257.4(MYH7):c.1423C>A (p.Gln475Lys)
|
rs1566534775
|
|
|
NM_000257.4(MYH7):c.1424A>G (p.Gln475Arg)
|
rs1595086356
|
|
|
NM_000257.4(MYH7):c.1424A>T (p.Gln475Leu)
|
rs1595086356
|
|
|
NM_000257.4(MYH7):c.1432A>G (p.Ile478Val)
|
rs730880873
|
|
|
NM_000257.4(MYH7):c.1435A>G (p.Asn479Asp)
|
rs1555338261
|
|
|
NM_000257.4(MYH7):c.1452G>T (p.Lys484Asn)
|
|
|
|
NM_000257.4(MYH7):c.1469A>G (p.Asn490Ser)
|
rs2138674215
|
|
|
NM_000257.4(MYH7):c.1471C>T (p.His491Tyr)
|
|
|
|
NM_000257.4(MYH7):c.1474C>A (p.His492Asn)
|
|
|
|
NM_000257.4(MYH7):c.1477_1478del (p.Met493fs)
|
rs727504336
|
|
|
NM_000257.4(MYH7):c.1480T>A (p.Phe494Ile)
|
rs1595086294
|
|
|
NM_000257.4(MYH7):c.1481T>A (p.Phe494Tyr)
|
rs1555338257
|
|
|
NM_000257.4(MYH7):c.1482dup (p.Val495fs)
|
rs1256217972
|
|
|
NM_000257.4(MYH7):c.1495GAG[1] (p.Glu500del)
|
rs1555338254
|
|
|
NM_000257.4(MYH7):c.1496A>G (p.Glu499Gly)
|
rs727504270
|
|
|
NM_000257.4(MYH7):c.1496A>T (p.Glu499Val)
|
rs727504270
|
|
|
NM_000257.4(MYH7):c.1498G>A (p.Glu500Lys)
|
rs1555338255
|
|
|
NM_000257.4(MYH7):c.1498G>C (p.Glu500Gln)
|
|
|
|
NM_000257.4(MYH7):c.1499A>G (p.Glu500Gly)
|
|
|
|
NM_000257.4(MYH7):c.1501T>C (p.Tyr501His)
|
|
|
|
NM_000257.4(MYH7):c.1504A>G (p.Lys502Glu)
|
rs876657877
|
|
|
NM_000257.4(MYH7):c.1513G>A (p.Gly505Ser)
|
rs2138674084
|
|
|
NM_000257.4(MYH7):c.1528T>C (p.Phe510Leu)
|
rs1566534664
|
|
|
NM_000257.4(MYH7):c.152T>C (p.Ile51Thr)
|
rs1893035421
|
|
|
NM_000257.4(MYH7):c.1535A>G (p.Asp512Gly)
|
rs1892790810
|
|
|
NM_000257.4(MYH7):c.1541G>C (p.Gly514Ala)
|
rs397516111
|
|
|
NM_000257.4(MYH7):c.1548C>A (p.Asp516Glu)
|
rs2138673993
|
|
|
NM_000257.4(MYH7):c.1552C>A (p.Gln518Lys)
|
rs1060501450
|
|
|
NM_000257.4(MYH7):c.1556C>A (p.Ala519Asp)
|
rs1555338241
|
|
|
NM_000257.4(MYH7):c.1556C>T (p.Ala519Val)
|
|
|
|
NM_000257.4(MYH7):c.1562T>C (p.Ile521Thr)
|
rs727504328
|
|
|
NM_000257.4(MYH7):c.1571T>C (p.Ile524Thr)
|
rs730880929
|
|
|
NM_000257.4(MYH7):c.1576A>G (p.Lys526Glu)
|
|
|
|
NM_000257.4(MYH7):c.1578+1G>A
|
rs1892788026
|
|
|
NM_000257.4(MYH7):c.1580C>T (p.Pro527Leu)
|
rs1595085606
|
|
|
NM_000257.4(MYH7):c.1584G>A (p.Met528Ile)
|
rs727503265
|
|
|
NM_000257.4(MYH7):c.158C>A (p.Ser53Tyr)
|
rs1893034734
|
|
|
NM_000257.4(MYH7):c.1597A>G (p.Ile533Val)
|
rs397516113
|
|
|
NM_000257.4(MYH7):c.1598T>G (p.Ile533Ser)
|
|
|
|
NM_000257.4(MYH7):c.15G>C (p.Glu5Asp)
|
rs1223890089
|
|
|
NM_000257.4(MYH7):c.1603G>A (p.Glu535Lys)
|
rs2138672565
|
|
|
NM_000257.4(MYH7):c.1605A>C (p.Glu535Asp)
|
rs2069543
|
|
|
NM_000257.4(MYH7):c.1606GAG[1] (p.Glu537del)
|
|
|
|
NM_000257.4(MYH7):c.1607A>C (p.Glu536Ala)
|
rs730880877
|
|
|
NM_000257.4(MYH7):c.1611G>C (p.Glu537Asp)
|
|
|
|
NM_000257.4(MYH7):c.161G>C (p.Arg54Pro)
|
rs397516117
|
|
|
NM_000257.4(MYH7):c.161G>T (p.Arg54Leu)
|
rs397516117
|
|
|
NM_000257.4(MYH7):c.1637T>A (p.Met546Lys)
|
|
|
|
NM_000257.4(MYH7):c.1639A>G (p.Thr547Ala)
|
rs1208449412
|
|
|
NM_000257.4(MYH7):c.1639A>T (p.Thr547Ser)
|
|
|
|
NM_000257.4(MYH7):c.1640C>A (p.Thr547Asn)
|
rs876657878
|
|
|
NM_000257.4(MYH7):c.1643T>G (p.Phe548Cys)
|
rs863224646
|
|
|
NM_000257.4(MYH7):c.1648G>A (p.Ala550Thr)
|
|
|
|
NM_000257.4(MYH7):c.1653G>T (p.Lys551Asn)
|
|
|
|
NM_000257.4(MYH7):c.1658T>G (p.Phe553Cys)
|
|
|
|
NM_000257.4(MYH7):c.1666C>T (p.His556Tyr)
|
rs2138672419
|
|
|
NM_000257.4(MYH7):c.1670T>C (p.Leu557Pro)
|
rs1214637312
|
|
|
NM_000257.4(MYH7):c.167G>C (p.Gly56Ala)
|
rs727504870
|
|
|
NM_000257.4(MYH7):c.167G>T (p.Gly56Val)
|
rs727504870
|
|
|
NM_000257.4(MYH7):c.1684A>C (p.Asn562His)
|
rs397516118
|
|
|
NM_000257.4(MYH7):c.1696C>G (p.Pro566Ala)
|
|
|
|
NM_000257.4(MYH7):c.1702A>G (p.Asn568Asp)
|
|
|
|
NM_000257.4(MYH7):c.1703A>G (p.Asn568Ser)
|
rs1892752744
|
|
|
NM_000257.4(MYH7):c.1711G>A (p.Gly571Arg)
|
rs730880879
|
|
|
NM_000257.4(MYH7):c.1724C>T (p.Ala575Val)
|
rs2138672293
|
|
|
NM_000257.4(MYH7):c.1739T>C (p.Ile580Thr)
|
|
|
|
NM_000257.4(MYH7):c.1741C>A (p.His581Asn)
|
|
|
|
NM_000257.4(MYH7):c.1753A>G (p.Ile585Val)
|
rs886038845
|
|
|
NM_000257.4(MYH7):c.1757T>C (p.Val586Ala)
|
rs397516121
|
|
|
NM_000257.4(MYH7):c.1759G>A (p.Asp587Asn)
|
rs727504294
|
|
|
NM_000257.4(MYH7):c.1759G>T (p.Asp587Tyr)
|
|
|
|
NM_000257.4(MYH7):c.1762T>C (p.Tyr588His)
|
rs2138672162
|
|
|
NM_000257.4(MYH7):c.1774G>C (p.Gly592Arg)
|
|
|
|
NM_000257.4(MYH7):c.1775G>A (p.Gly592Asp)
|
|
|
|
NM_000257.4(MYH7):c.1778G>A (p.Trp593Ter)
|
|
|
|
NM_000257.4(MYH7):c.1785GAA[1] (p.Lys596del)
|
|
|
|
NM_000257.4(MYH7):c.1788G>T (p.Lys596Asn)
|
rs606231325
|
|
|
NM_000257.4(MYH7):c.1789A>T (p.Asn597Tyr)
|
rs1892748604
|
|
|
NM_000257.4(MYH7):c.1791C>A (p.Asn597Lys)
|
rs397516122
|
|
|
NM_000257.4(MYH7):c.1791C>G (p.Asn597Lys)
|
rs397516122
|
|
|
NM_000257.4(MYH7):c.179C>T (p.Thr60Ile)
|
rs2138686529
|
|
|
NM_000257.4(MYH7):c.1813G>A (p.Val605Ile)
|
rs2138672030
|
|
|
NM_000257.4(MYH7):c.1816G>T (p.Val606Leu)
|
rs121913627
|
|
|
NM_000257.4(MYH7):c.181G>C (p.Ala61Pro)
|
|
|
|
NM_000257.4(MYH7):c.1823T>C (p.Leu608Ser)
|
rs2138671995
|
|
|
NM_000257.4(MYH7):c.1828C>G (p.Gln610Glu)
|
|
|
|
NM_000257.4(MYH7):c.1829A>G (p.Gln610Arg)
|
|
|
|
NM_000257.4(MYH7):c.1831A>C (p.Lys611Gln)
|
rs876661200
|
|
|
NM_000257.4(MYH7):c.1833G>T (p.Lys611Asn)
|
rs1393494996
|
|
|
NM_000257.4(MYH7):c.1834T>A (p.Ser612Thr)
|
rs1005703927
|
|
|
NM_000257.4(MYH7):c.1843A>G (p.Lys615Glu)
|
rs1060501449
|
|
|
NM_000257.4(MYH7):c.1844A>G (p.Lys615Arg)
|
rs1892745662
|
|
|
NM_000257.4(MYH7):c.1846C>A (p.Leu616Met)
|
|
|
|
NM_000257.4(MYH7):c.1856C>A (p.Thr619Asn)
|
rs541143322
|
|
|
NM_000257.4(MYH7):c.1870T>A (p.Tyr624Asn)
|
rs1555338113
|
|
|
NM_000257.4(MYH7):c.1870T>G (p.Tyr624Asp)
|
rs1555338113
|
|
|
NM_000257.4(MYH7):c.1871A>G (p.Tyr624Cys)
|
rs727504291
|
|
|
NM_000257.4(MYH7):c.1874C>T (p.Ala625Val)
|
rs730880932
|
|
|
NM_000257.4(MYH7):c.1876G>A (p.Gly626Arg)
|
rs876661370
|
|
|
NM_000257.4(MYH7):c.1877G>C (p.Gly626Ala)
|
rs1555338111
|
|
|
NM_000257.4(MYH7):c.1885G>A (p.Ala629Thr)
|
|
|
|
NM_000257.4(MYH7):c.1887G>T (p.Ala629=)
|
rs376572023
|
|
|
NM_000257.4(MYH7):c.1888+1G>T
|
|
|
|
NM_000257.4(MYH7):c.1888+4A>G
|
|
|
|
NM_000257.4(MYH7):c.1888+5G>A
|
|
|
|
NM_000257.4(MYH7):c.1888C>A (p.Pro630Thr)
|
rs397516124
|
|
|
NM_000257.4(MYH7):c.1899_1904dup (p.634GK[3])
|
rs2138671208
|
|
|
NM_000257.4(MYH7):c.1900G>T (p.Gly634Cys)
|
rs2138671225
|
|
|
NM_000257.4(MYH7):c.1902C>T (p.Gly634=)
|
rs1566533700
|
|
|
NM_000257.4(MYH7):c.1906G>C (p.Gly636Arg)
|
|
|
|
NM_000257.4(MYH7):c.190G>A (p.Glu64Lys)
|
|
|
|
NM_000257.4(MYH7):c.1912G>A (p.Ala638Thr)
|
rs2138671153
|
|
|
NM_000257.4(MYH7):c.1912G>T (p.Ala638Ser)
|
|
|
|
NM_000257.4(MYH7):c.1913C>A (p.Ala638Asp)
|
|
|
|
NM_000257.4(MYH7):c.1915A>G (p.Lys639Glu)
|
|
|
|
NM_000257.4(MYH7):c.1916A>C (p.Lys639Thr)
|
rs2138671139
|
|
|
NM_000257.4(MYH7):c.1917G>C (p.Lys639Asn)
|
|
|
|
NM_000257.4(MYH7):c.1920A>C (p.Lys640Asn)
|
|
|
|
NM_000257.4(MYH7):c.1921G>A (p.Gly641Ser)
|
rs1892730026
|
|
|
NM_000257.4(MYH7):c.1925C>T (p.Ser642Leu)
|
rs121913646
|
|
|
NM_000257.4(MYH7):c.1934_1937dup (p.Val647fs)
|
|
|
|
NM_000257.4(MYH7):c.1939G>A (p.Val647Met)
|
|
|
|
NM_000257.4(MYH7):c.193T>C (p.Tyr65His)
|
rs2138686468
|
|
|
NM_000257.4(MYH7):c.1940T>C (p.Val647Ala)
|
rs1566533659
|
|
|
NM_000257.4(MYH7):c.1943C>T (p.Ser648Leu)
|
rs2138671090
|
|
|
NM_000257.4(MYH7):c.1949T>A (p.Leu650Gln)
|
rs1060501451
|
|
|
NM_000257.4(MYH7):c.1949T>C (p.Leu650Pro)
|
rs1060501451
|
|
|
NM_000257.4(MYH7):c.194A>G (p.Tyr65Cys)
|
|
|
|
NM_000257.4(MYH7):c.1951C>T (p.His651Tyr)
|
rs1892728751
|
|
|
NM_000257.4(MYH7):c.1956+1G>A
|
rs1555338074
|
|
|
NM_000257.4(MYH7):c.1956+1G>C
|
rs1555338074
|
|
|
NM_000257.4(MYH7):c.1956G>C (p.Arg652Ser)
|
rs1892728325
|
|
|
NM_000257.4(MYH7):c.1957-13T>G
|
|
|
|
NM_000257.4(MYH7):c.1957-1G>T
|
rs2138670367
|
|
|
NM_000257.4(MYH7):c.1968C>A (p.Asn656Lys)
|
|
|
|
NM_000257.4(MYH7):c.1968C>G (p.Asn656Lys)
|
|
|
|
NM_000257.4(MYH7):c.1971G>T (p.Lys657Asn)
|
rs760736597
|
|
|
NM_000257.4(MYH7):c.1973T>C (p.Leu658Pro)
|
rs1555338034
|
|
|
NM_000257.4(MYH7):c.1977G>A (p.Met659Ile)
|
rs1241603111
|
|
|
NM_000257.4(MYH7):c.1977G>C (p.Met659Ile)
|
|
|
|
NM_000257.4(MYH7):c.1978A>T (p.Thr660Ser)
|
rs1566533312
|
|
|
NM_000257.4(MYH7):c.197G>A (p.Gly66Asp)
|
rs1893032620
|
|
|
NM_000257.4(MYH7):c.1981A>C (p.Asn661His)
|
rs2138670306
|
|
|
NM_000257.4(MYH7):c.1982A>G (p.Asn661Ser)
|
rs1060501435
|
|
|
NM_000257.4(MYH7):c.1994C>G (p.Thr665Ser)
|
|
|
|
NM_000257.4(MYH7):c.1994C>T (p.Thr665Ile)
|
rs1892712828
|
|
|
NM_000257.4(MYH7):c.1A>G (p.Met1Val)
|
rs139250539
|
|
|
NM_000257.4(MYH7):c.2004C>G (p.His668Gln)
|
rs1892712315
|
|
|
NM_000257.4(MYH7):c.200A>C (p.Lys67Thr)
|
rs2138686446
|
|
|
NM_000257.4(MYH7):c.201+2T>C
|
rs1893032172
|
|
|
NM_000257.4(MYH7):c.2014T>C (p.Cys672Arg)
|
|
|
|
NM_000257.4(MYH7):c.202-13G>A
|
rs1402773088
|
|
|
NM_000257.4(MYH7):c.202-14G>A
|
|
|
|
NM_000257.4(MYH7):c.2020A>C (p.Ile674Leu)
|
|
|
|
NM_000257.4(MYH7):c.2020A>T (p.Ile674Phe)
|
|
|
|
NM_000257.4(MYH7):c.2024C>T (p.Pro675Leu)
|
rs2138670181
|
|
|
NM_000257.4(MYH7):c.2029G>A (p.Glu677Lys)
|
|
|
|
NM_000257.4(MYH7):c.2033C>T (p.Thr678Ile)
|
rs1892711103
|
|
|
NM_000257.4(MYH7):c.2044G>A (p.Gly682Arg)
|
rs554149826
|
|
|
NM_000257.4(MYH7):c.2045-3C>G
|
|
|
|
NM_000257.4(MYH7):c.2047G>A (p.Val683Met)
|
rs1566532876
|
|
|
NM_000257.4(MYH7):c.2050A>G (p.Met684Val)
|
rs1060501441
|
|
|
NM_000257.4(MYH7):c.2052G>A (p.Met684Ile)
|
rs727503262
|
|
|
NM_000257.4(MYH7):c.2053del (p.Asp685fs)
|
rs1566532860
|
|
|
NM_000257.4(MYH7):c.2059C>A (p.Pro687Thr)
|
rs765634033
|
|
|
NM_000257.4(MYH7):c.2074C>A (p.Gln692Lys)
|
|
|
|
NM_000257.4(MYH7):c.2078T>C (p.Leu693Pro)
|
rs2138668997
|
|
|
NM_000257.4(MYH7):c.2084G>C (p.Cys695Ser)
|
rs2138668976
|
|
|
NM_000257.4(MYH7):c.2099A>G (p.Glu700Gly)
|
rs1892684240
|
|
|
NM_000257.4(MYH7):c.209C>T (p.Thr70Ile)
|
rs1327007939
|
|
|
NM_000257.4(MYH7):c.2101G>A (p.Gly701Ser)
|
rs397516131
|
|
|
NM_000257.4(MYH7):c.2102G>A (p.Gly701Asp)
|
|
|
|
NM_000257.4(MYH7):c.2108G>A (p.Arg703His)
|
|
|
|
NM_000257.4(MYH7):c.2110A>C (p.Ile704Leu)
|
|
|
|
NM_000257.4(MYH7):c.2111T>A (p.Ile704Asn)
|
rs1892683367
|
|
|
NM_000257.4(MYH7):c.2132A>C (p.Asn711Thr)
|
|
|
|
NM_000257.4(MYH7):c.2138_2139inv (p.Ile713Arg)
|
|
|
|
NM_000257.4(MYH7):c.2139C>G (p.Ile713Met)
|
|
|
|
NM_000257.4(MYH7):c.2140C>T (p.Leu714Phe)
|
|
|
|
NM_000257.4(MYH7):c.2141T>C (p.Leu714Pro)
|
rs2138668786
|
|
|
NM_000257.4(MYH7):c.2144A>G (p.Tyr715Cys)
|
rs2138668784
|
|
|
NM_000257.4(MYH7):c.2145C>A (p.Tyr715Ter)
|
|
|
|
NM_000257.4(MYH7):c.2151C>G (p.Asp717Glu)
|
rs1385478575
|
|
|
NM_000257.4(MYH7):c.2153T>G (p.Phe718Cys)
|
rs1060501432
|
|
|
NM_000257.4(MYH7):c.2160G>C (p.Gln720His)
|
rs730880733
|
|
|
NM_000257.4(MYH7):c.2162+1G>A
|
rs752554104
|
|
|
NM_000257.4(MYH7):c.2162+5G>T
|
|
|
|
NM_000257.4(MYH7):c.2163G>T (p.Arg721Ser)
|
rs730880734
|
|
|
NM_000257.4(MYH7):c.2164T>C (p.Tyr722His)
|
|
|
|
NM_000257.4(MYH7):c.2178C>A (p.Asn726Lys)
|
rs397516137
|
|
|
NM_000257.4(MYH7):c.2198G>A (p.Gly733Glu)
|
rs727504241
|
|
|
NM_000257.4(MYH7):c.2201dup (p.Phe735fs)
|
rs1595083518
|
|
|
NM_000257.4(MYH7):c.2203T>C (p.Phe735Leu)
|
rs1060501438
|
|
|
NM_000257.4(MYH7):c.2205C>G (p.Phe735Leu)
|
|
|
|
NM_000257.4(MYH7):c.2209G>T (p.Asp737Tyr)
|
rs1064793205
|
|
|
NM_000257.4(MYH7):c.2212A>T (p.Ser738Cys)
|
rs1064796729
|
|
|
NM_000257.4(MYH7):c.2214C>G (p.Ser738Arg)
|
rs1892670575
|
|
|
NM_000257.4(MYH7):c.2215A>G (p.Arg739Gly)
|
rs1595083480
|
|
|
NM_000257.4(MYH7):c.2217G>C (p.Arg739Ser)
|
rs727504429
|
|
|
NM_000257.4(MYH7):c.2220G>T (p.Lys740Asn)
|
|
|
|
NM_000257.4(MYH7):c.2220_2221delinsTT (p.Lys740_Gly741delinsAsnTrp)
|
|
|
|
NM_000257.4(MYH7):c.2224G>A (p.Ala742Thr)
|
rs769396106
|
|
|
NM_000257.4(MYH7):c.2224G>C (p.Ala742Pro)
|
rs769396106
|
|
|
NM_000257.4(MYH7):c.2229G>C (p.Glu743Asp)
|
rs397516139
|
|
|
NM_000257.4(MYH7):c.222C>A (p.Asp74Glu)
|
|
|
|
NM_000257.4(MYH7):c.2230A>T (p.Lys744Ter)
|
rs1230771917
|
|
|
NM_000257.4(MYH7):c.2231A>C (p.Lys744Thr)
|
rs2138668083
|
|
|
NM_000257.4(MYH7):c.2236C>T (p.Leu746Phe)
|
|
|
|
NM_000257.4(MYH7):c.2242_2243delinsAT (p.Ser748Ile)
|
|
|
|
NM_000257.4(MYH7):c.2251A>G (p.Ile751Val)
|
rs1892668023
|
|
|
NM_000257.4(MYH7):c.2252T>C (p.Ile751Thr)
|
rs1892667923
|
|
|
NM_000257.4(MYH7):c.2260A>C (p.Asn754His)
|
|
|
|
NM_000257.4(MYH7):c.2260A>G (p.Asn754Asp)
|
|
|
|
NM_000257.4(MYH7):c.2261A>G (p.Asn754Ser)
|
|
|
|
NM_000257.4(MYH7):c.2262C>G (p.Asn754Lys)
|
|
|
|
NM_000257.4(MYH7):c.2275G>T (p.Gly759Cys)
|
|
|
|
NM_000257.4(MYH7):c.2276G>A (p.Gly759Asp)
|
|
|
|
NM_000257.4(MYH7):c.2282C>A (p.Thr761Asn)
|
rs1555337846
|
|
|
NM_000257.4(MYH7):c.2282C>G (p.Thr761Ser)
|
|
|
|
NM_000257.4(MYH7):c.2285A>G (p.Lys762Arg)
|
rs397516140
|
|
|
NM_000257.4(MYH7):c.2286+12A>T
|
|
|
|
NM_000257.4(MYH7):c.2286+1G>T
|
rs1064796489
|
|
|
NM_000257.4(MYH7):c.2286+3G>A
|
|
|
|
NM_000257.4(MYH7):c.2286+5G>C
|
rs1312350943
|
|
|
NM_000257.4(MYH7):c.2287-16C>G
|
|
|
|
NM_000257.4(MYH7):c.2287-6C>T
|
|
|
|
NM_000257.4(MYH7):c.2287-7C>A
|
rs2138667360
|
|
|
NM_000257.4(MYH7):c.2287G>A (p.Val763Met)
|
rs727504253
|
|
|
NM_000257.4(MYH7):c.2293T>C (p.Phe765Leu)
|
|
|
|
NM_000257.4(MYH7):c.22G>C (p.Val8Leu)
|
|
|
|
NM_000257.4(MYH7):c.2300C>T (p.Ala767Val)
|
|
|
|
NM_000257.4(MYH7):c.2303GGCTGCTGG[1] (p.768GLL[1])
|
rs863224647
|
|
|
NM_000257.4(MYH7):c.2303GGCTGCTGG[3] (p.768GLL[3])
|
rs863224647
|
|
|
NM_000257.4(MYH7):c.2306T>C (p.Leu769Pro)
|
rs1892654331
|
|
|
NM_000257.4(MYH7):c.2330G>A (p.Arg777Lys)
|
rs2138667239
|
|
|
NM_000257.4(MYH7):c.2330G>C (p.Arg777Thr)
|
|
|
|
NM_000257.4(MYH7):c.2335G>C (p.Glu779Gln)
|
rs1427104281
|
|
|
NM_000257.4(MYH7):c.2338A>G (p.Arg780Gly)
|
|
|
|
NM_000257.4(MYH7):c.233A>C (p.Gln78Pro)
|
|
|
|
NM_000257.4(MYH7):c.2340G>T (p.Arg780Ser)
|
rs2138667201
|
|
|
NM_000257.4(MYH7):c.2342T>C (p.Leu781Pro)
|
rs727503259
|
|
|
NM_000257.4(MYH7):c.2348G>T (p.Arg783Leu)
|
rs397516142
|
|
|
NM_000257.4(MYH7):c.2360G>C (p.Arg787Pro)
|
rs376754645
|
|
|
NM_000257.4(MYH7):c.2360_2369del (p.Arg787fs)
|
rs2138667059
|
|
|
NM_000257.4(MYH7):c.2366A>G (p.Gln789Arg)
|
|
|
|
NM_000257.4(MYH7):c.2371C>A (p.Gln791Lys)
|
rs550570026
|
|
|
NM_000257.4(MYH7):c.2372A>C (p.Gln791Pro)
|
rs1892650858
|
|
|
NM_000257.4(MYH7):c.2375C>A (p.Ser792Tyr)
|
|
|
|
NM_000257.4(MYH7):c.2375C>T (p.Ser792Phe)
|
rs1334451835
|
|
|
NM_000257.4(MYH7):c.2377C>T (p.Arg793Ter)
|
rs140175704
|
|
|
NM_000257.4(MYH7):c.2378G>C (p.Arg793Pro)
|
rs730880896
|
|
|
NM_000257.4(MYH7):c.238A>C (p.Asn80His)
|
|
|
|
NM_000257.4(MYH7):c.2390C>T (p.Ala797Val)
|
|
|
|
NM_000257.4(MYH7):c.2393G>A (p.Arg798Lys)
|
rs1555337796
|
|
|
NM_000257.4(MYH7):c.2399del (p.Glu800fs)
|
|
|
|
NM_000257.4(MYH7):c.2403C>G (p.Tyr801Ter)
|
rs775113608
|
|
|
NM_000257.4(MYH7):c.240C>A (p.Asn80Lys)
|
rs200493975
|
|
|
NM_000257.4(MYH7):c.2411del (p.Leu804fs)
|
rs1892649223
|
|
|
NM_000257.4(MYH7):c.2417A>G (p.Glu806Gly)
|
rs1408157651
|
|
|
NM_000257.4(MYH7):c.2419C>G (p.Arg807Gly)
|
rs2138666871
|
|
|
NM_000257.4(MYH7):c.2423+19A>T
|
rs746018500
|
|
|
NM_000257.4(MYH7):c.2423+1G>A
|
rs113580172
|
|
|
NM_000257.4(MYH7):c.2424-8C>A
|
rs767171610
|
|
|
NM_000257.4(MYH7):c.2429C>T (p.Ser810Phe)
|
|
|
|
NM_000257.4(MYH7):c.2432T>G (p.Leu811Arg)
|
|
|
|
NM_000257.4(MYH7):c.2436G>T (p.Leu812=)
|
|
|
|
NM_000257.4(MYH7):c.2437G>A (p.Val813Ile)
|
|
|
|
NM_000257.4(MYH7):c.2437G>C (p.Val813Leu)
|
rs1555337771
|
|
|
NM_000257.4(MYH7):c.2441T>G (p.Ile814Ser)
|
rs2138666332
|
|
|
NM_000257.4(MYH7):c.2444A>T (p.Gln815Leu)
|
|
|
|
NM_000257.4(MYH7):c.2450A>C (p.Asn817Thr)
|
rs2138666295
|
|
|
NM_000257.4(MYH7):c.2451C>A (p.Asn817Lys)
|
rs876661372
|
|
|
NM_000257.4(MYH7):c.2462T>C (p.Phe821Ser)
|
rs397516148
|
|
|
NM_000257.4(MYH7):c.2464A>C (p.Met822Leu)
|
rs730880742
|
|
|
NM_000257.4(MYH7):c.2464A>T (p.Met822Leu)
|
rs730880742
|
|
|
NM_000257.4(MYH7):c.2467G>A (p.Gly823Arg)
|
rs1566531657
|
|
|
NM_000257.4(MYH7):c.2468G>A (p.Gly823Glu)
|
|
|
|
NM_000257.4(MYH7):c.2470G>A (p.Val824Ile)
|
rs397516149
|
|
|
NM_000257.4(MYH7):c.2471T>C (p.Val824Ala)
|
rs727503255
|
|
|
NM_000257.4(MYH7):c.2473A>C (p.Lys825Gln)
|
rs730880743
|
|
|
NM_000257.4(MYH7):c.2477A>G (p.Asn826Ser)
|
|
|
|
NM_000257.4(MYH7):c.2478T>A (p.Asn826Lys)
|
rs730880898
|
|
|
NM_000257.4(MYH7):c.2481G>C (p.Trp827Cys)
|
rs786204091
|
|
|
NM_000257.4(MYH7):c.2481G>T (p.Trp827Cys)
|
|
|
|
NM_000257.4(MYH7):c.2482C>A (p.Pro828Thr)
|
rs45526433
|
|
|
NM_000257.4(MYH7):c.2494C>T (p.Leu832Phe)
|
rs878853837
|
|
|
NM_000257.4(MYH7):c.2495T>A (p.Leu832His)
|
rs730880745
|
|
|
NM_000257.4(MYH7):c.2504A>T (p.Lys835Met)
|
rs876657880
|
|
|
NM_000257.4(MYH7):c.2510A>T (p.Lys837Met)
|
rs1060501439
|
|
|
NM_000257.4(MYH7):c.2518C>A (p.Leu840Met)
|
rs730880747
|
|
|
NM_000257.4(MYH7):c.2523G>C (p.Lys841Asn)
|
|
|
|
NM_000257.4(MYH7):c.2532_2535del (p.Glu846fs)
|
|
|
|
NM_000257.4(MYH7):c.2534G>A (p.Arg845Lys)
|
rs1595082612
|
|
|
NM_000257.4(MYH7):c.253G>C (p.Asp85His)
|
rs770246266
|
|
|
NM_000257.4(MYH7):c.2542_2544del (p.Glu848del)
|
rs863225099
|
|
|
NM_000257.4(MYH7):c.2548G>A (p.Ala850Thr)
|
rs1060499880
|
|
|
NM_000257.4(MYH7):c.2551T>A (p.Ser851Thr)
|
rs2138665874
|
|
|
NM_000257.4(MYH7):c.2552C>T (p.Ser851Phe)
|
rs1466322212
|
|
|
NM_000257.4(MYH7):c.2560G>A (p.Glu854Lys)
|
rs1892632033
|
|
|
NM_000257.4(MYH7):c.2570C>A (p.Thr857Lys)
|
|
|
|
NM_000257.4(MYH7):c.2571_2572delinsGG (p.Arg858Gly)
|
|
|
|
NM_000257.4(MYH7):c.2575C>T (p.Leu859Phe)
|
rs1483811980
|
|
|
NM_000257.4(MYH7):c.2579A>G (p.Lys860Arg)
|
rs1892630499
|
|
|
NM_000257.4(MYH7):c.2581G>A (p.Glu861Lys)
|
rs868789318
|
|
|
NM_000257.4(MYH7):c.2581_2582delinsTT (p.Glu861Leu)
|
rs2138665718
|
|
|
NM_000257.4(MYH7):c.2582A>G (p.Glu861Gly)
|
rs1236517740
|
|
|
NM_000257.4(MYH7):c.2588T>C (p.Leu863Pro)
|
|
|
|
NM_000257.4(MYH7):c.2588T>G (p.Leu863Arg)
|
rs1892629819
|
|
|
NM_000257.4(MYH7):c.2596T>C (p.Ser866Pro)
|
rs1892629291
|
|
|
NM_000257.4(MYH7):c.259del (p.Ile87fs)
|
rs768274526
|
|
|
NM_000257.4(MYH7):c.2605CGC[1] (p.Arg870del)
|
rs2138665581
|
|
|
NM_000257.4(MYH7):c.2620GAG[1] (p.Glu875del)
|
rs397516159
|
|
|
NM_000257.4(MYH7):c.2623G>A (p.Glu875Lys)
|
|
|
|
NM_000257.4(MYH7):c.2626A>C (p.Lys876Gln)
|
rs2138665540
|
|
|
NM_000257.4(MYH7):c.2628G>T (p.Lys876Asn)
|
rs749627954
|
|
|
NM_000257.4(MYH7):c.2632G>A (p.Val878Met)
|
rs730880751
|
|
|
NM_000257.4(MYH7):c.2641C>A (p.Leu881Met)
|
rs907992794
|
|
|
NM_000257.4(MYH7):c.2642T>C (p.Leu881Pro)
|
rs1566531303
|
|
|
NM_000257.4(MYH7):c.2647G>A (p.Glu883Lys)
|
rs1212642361
|
|
|
NM_000257.4(MYH7):c.2649GAA[1] (p.Lys884del)
|
rs193922387
|
|
|
NM_000257.4(MYH7):c.2651A>G (p.Lys884Arg)
|
rs2138665409
|
|
|
NM_000257.4(MYH7):c.2652G>C (p.Lys884Asn)
|
rs2138665406
|
|
|
NM_000257.4(MYH7):c.2657A>T (p.Asp886Val)
|
|
|
|
NM_000257.4(MYH7):c.2664G>T (p.Gln888His)
|
rs372875657
|
|
|
NM_000257.4(MYH7):c.2665C>G (p.Leu889Val)
|
rs758006914
|
|
|
NM_000257.4(MYH7):c.2666T>A (p.Leu889His)
|
rs886038813
|
|
|
NM_000257.4(MYH7):c.2666T>C (p.Leu889Pro)
|
rs886038813
|
|
|
NM_000257.4(MYH7):c.266A>G (p.Asp89Gly)
|
|
|
|
NM_000257.4(MYH7):c.2671G>A (p.Val891Met)
|
rs1892624771
|
|
|
NM_000257.4(MYH7):c.2672T>C (p.Val891Ala)
|
|
|
|
NM_000257.4(MYH7):c.2674C>A (p.Gln892Lys)
|
rs1555337684
|
|
|
NM_000257.4(MYH7):c.2678C>A (p.Ala893Glu)
|
rs727503254
|
|
|
NM_000257.4(MYH7):c.2679+3G>A
|
rs553486562
|
|
|
NM_000257.4(MYH7):c.2679G>A (p.Ala893=)
|
rs765038766
|
|
|
NM_000257.4(MYH7):c.2680-16T>G
|
|
|
|
NM_000257.4(MYH7):c.2683C>A (p.Gln895Lys)
|
rs397516162
|
|
|
NM_000257.4(MYH7):c.2684A>T (p.Gln895Leu)
|
rs1892600025
|
|
|
NM_000257.4(MYH7):c.2689A>C (p.Asn897His)
|
|
|
|
NM_000257.4(MYH7):c.2691C>A (p.Asn897Lys)
|
|
|
|
NM_000257.4(MYH7):c.2692C>G (p.Leu898Val)
|
rs727504407
|
|
|
NM_000257.4(MYH7):c.2696C>A (p.Ala899Glu)
|
rs730880753
|
|
|
NM_000257.4(MYH7):c.2699A>T (p.Asp900Val)
|
|
|
|
NM_000257.4(MYH7):c.269T>G (p.Met90Arg)
|
rs1893017457
|
|
|
NM_000257.4(MYH7):c.2700T>A (p.Asp900Glu)
|
rs730880755
|
|
|
NM_000257.4(MYH7):c.2700T>G (p.Asp900Glu)
|
rs730880755
|
|
|
NM_000257.4(MYH7):c.2707G>A (p.Glu903Lys)
|
rs730880756
|
|
|
NM_000257.4(MYH7):c.2708A>G (p.Glu903Gly)
|
rs727504261
|
|
|
NM_000257.4(MYH7):c.2709G>T (p.Glu903Asp)
|
rs773468693
|
|
|
NM_000257.4(MYH7):c.270G>A (p.Met90Ile)
|
rs2138685634
|
|
|
NM_000257.4(MYH7):c.2713T>G (p.Cys905Gly)
|
|
|
|
NM_000257.4(MYH7):c.2719C>A (p.Gln907Lys)
|
rs397516167
|
|
|
NM_000257.4(MYH7):c.271G>A (p.Ala91Thr)
|
|
|
|
NM_000257.4(MYH7):c.2720A>C (p.Gln907Pro)
|
|
|
|
NM_000257.4(MYH7):c.2725_2745dup (p.Ile909_Leu915dup)
|
rs1555337594
|
|
|
NM_000257.4(MYH7):c.2731A>T (p.Asn911Tyr)
|
rs1566530777
|
|
|
NM_000257.4(MYH7):c.2733C>A (p.Asn911Lys)
|
rs1892596079
|
|
|
NM_000257.4(MYH7):c.2734A>G (p.Lys912Glu)
|
rs730880758
|
|
|
NM_000257.4(MYH7):c.2735A>T (p.Lys912Met)
|
rs786204087
|
|
|
NM_000257.4(MYH7):c.2736G>T (p.Lys912Asn)
|
rs1555337597
|
|
|
NM_000257.4(MYH7):c.2738T>G (p.Ile913Ser)
|
rs1360649783
|
|
|
NM_000257.4(MYH7):c.2739T>G (p.Ile913Met)
|
rs1595081812
|
|
|
NM_000257.4(MYH7):c.2741A>T (p.Gln914Leu)
|
rs1412226831
|
|
|
NM_000257.4(MYH7):c.2748G>T (p.Glu916Asp)
|
rs1060501437
|
|
|
NM_000257.4(MYH7):c.2749_2750delinsAT (p.Ala917Ile)
|
rs1566530741
|
|
|
NM_000257.4(MYH7):c.274A>G (p.Met92Val)
|
rs1222065426
|
|
|
NM_000257.4(MYH7):c.2753A>G (p.Lys918Arg)
|
rs2138663758
|
|
|
NM_000257.4(MYH7):c.2761G>T (p.Glu921Ter)
|
rs730880759
|
|
|
NM_000257.4(MYH7):c.2761_2763del (p.Glu921del)
|
rs1595081779
|
|
|
NM_000257.4(MYH7):c.2766G>A (p.Met922Ile)
|
|
|
|
NM_000257.4(MYH7):c.2766G>T (p.Met922Ile)
|
rs138756911
|
|
|
NM_000257.4(MYH7):c.2777T>C (p.Leu926Pro)
|
rs1555337583
|
|
|
NM_000257.4(MYH7):c.2777_2779del (p.Leu926_Glu927delinsGln)
|
|
|
|
NM_000257.4(MYH7):c.2779G>T (p.Glu927Ter)
|
|
|
|
NM_000257.4(MYH7):c.2785G>A (p.Glu929Lys)
|
rs730880161
|
|
|
NM_000257.4(MYH7):c.2785G>C (p.Glu929Gln)
|
rs730880161
|
|
|
NM_000257.4(MYH7):c.2787G>C (p.Glu929Asp)
|
|
|
|
NM_000257.4(MYH7):c.2795T>C (p.Met932Thr)
|
rs202097576
|
|
|
NM_000257.4(MYH7):c.2810C>G (p.Thr937Ser)
|
|
|
|
NM_000257.4(MYH7):c.2810C>T (p.Thr937Ile)
|
|
|
|
NM_000257.4(MYH7):c.2812G>T (p.Ala938Ser)
|
rs763082533
|
|
|
NM_000257.4(MYH7):c.2813C>A (p.Ala938Asp)
|
rs2138663527
|
|
|
NM_000257.4(MYH7):c.2815A>C (p.Lys939Gln)
|
rs1892589978
|
|
|
NM_000257.4(MYH7):c.2815A>G (p.Lys939Glu)
|
|
|
|
NM_000257.4(MYH7):c.2819A>C (p.Lys940Thr)
|
|
|
|
NM_000257.4(MYH7):c.2819A>G (p.Lys940Arg)
|
|
|
|
NM_000257.4(MYH7):c.2821C>A (p.Arg941Ser)
|
rs750435648
|
|
|
NM_000257.4(MYH7):c.2822G>T (p.Arg941Leu)
|
|
|
|
NM_000257.4(MYH7):c.2823C>T (p.Arg941=)
|
rs727503251
|
|
|
NM_000257.4(MYH7):c.2843C>T (p.Ser948Leu)
|
rs1350140484
|
|
|
NM_000257.4(MYH7):c.2845G>A (p.Glu949Lys)
|
rs121913629
|
|
|
NM_000257.4(MYH7):c.2846A>G (p.Glu949Gly)
|
|
|
|
NM_000257.4(MYH7):c.2858A>T (p.Asp953Val)
|
rs730880901
|
|
|
NM_000257.4(MYH7):c.2862C>G (p.Ile954Met)
|
|
|
|
NM_000257.4(MYH7):c.2863G>A (p.Asp955Asn)
|
rs886039204
|
|
|
NM_000257.4(MYH7):c.2872G>A (p.Glu958Lys)
|
rs2138663362
|
|
|
NM_000257.4(MYH7):c.287T>A (p.Leu96Gln)
|
rs1893016563
|
|
|
NM_000257.4(MYH7):c.2881C>G (p.Leu961Val)
|
|
|
|
NM_000257.4(MYH7):c.2882T>G (p.Leu961Arg)
|
rs727504374
|
|
|
NM_000257.4(MYH7):c.2884G>C (p.Ala962Pro)
|
|
|
|
NM_000257.4(MYH7):c.2886del (p.Val964fs)
|
rs886038901
|
|
|
NM_000257.4(MYH7):c.2896_2898del (p.Lys966del)
|
rs1892586321
|
|
|
NM_000257.4(MYH7):c.2908G>T (p.Ala970Ser)
|
rs1446657813
|
|
|
NM_000257.4(MYH7):c.2909C>T (p.Ala970Val)
|
rs45468702
|
|
|
NM_000257.4(MYH7):c.2922G>T (p.Lys974Asn)
|
|
|
|
NM_000257.4(MYH7):c.2923-2A>C
|
|
|
|
NM_000257.4(MYH7):c.2923-6C>A
|
rs587781082
|
|
|
NM_000257.4(MYH7):c.2926A>G (p.Lys976Glu)
|
rs2138662747
|
|
|
NM_000257.4(MYH7):c.292G>A (p.Glu98Lys)
|
rs1440846436
|
|
|
NM_000257.4(MYH7):c.2933T>C (p.Leu978Pro)
|
|
|
|
NM_000257.4(MYH7):c.2945T>A (p.Met982Lys)
|
|
|
|
NM_000257.4(MYH7):c.2950G>A (p.Gly984Arg)
|
|
|
|
NM_000257.4(MYH7):c.2956G>C (p.Asp986His)
|
|
|
|
NM_000257.4(MYH7):c.2959G>A (p.Glu987Lys)
|
rs730880902
|
|
|
NM_000257.4(MYH7):c.2963T>G (p.Ile988Ser)
|
rs989475429
|
|
|
NM_000257.4(MYH7):c.2967_2968delinsCC (p.Ala990Pro)
|
|
|
|
NM_000257.4(MYH7):c.2967_2968inv (p.Ala990Thr)
|
|
|
|
NM_000257.4(MYH7):c.2978C>A (p.Thr993Asn)
|
|
|
|
NM_000257.4(MYH7):c.2978C>T (p.Thr993Ile)
|
rs1892574151
|
|
|
NM_000257.4(MYH7):c.298G>A (p.Ala100Thr)
|
rs730880154
|
|
|
NM_000257.4(MYH7):c.2992G>C (p.Ala998Pro)
|
rs1595081345
|
|
|
NM_000257.4(MYH7):c.2998C>T (p.Gln1000Ter)
|
|
|
|
NM_000257.4(MYH7):c.299C>T (p.Ala100Val)
|
rs876657882
|
|
|
NM_000257.4(MYH7):c.3013C>G (p.Gln1005Glu)
|
rs1892572355
|
|
|
NM_000257.4(MYH7):c.3019C>G (p.Leu1007Val)
|
rs1308445601
|
|
|
NM_000257.4(MYH7):c.3026A>G (p.Asp1009Gly)
|
|
|
|
NM_000257.4(MYH7):c.3037G>C (p.Glu1013Gln)
|
rs730880764
|
|
|
NM_000257.4(MYH7):c.3058C>G (p.Leu1020Val)
|
rs751904168
|
|
|
NM_000257.4(MYH7):c.3065A>T (p.Lys1022Met)
|
|
|
|
NM_000257.4(MYH7):c.3068C>T (p.Ala1023Val)
|
rs767004235
|
|
|
NM_000257.4(MYH7):c.3083A>G (p.Glu1028Gly)
|
rs397516177
|
|
|
NM_000257.4(MYH7):c.3085C>G (p.Gln1029Glu)
|
|
|
|
NM_000257.4(MYH7):c.308A>G (p.Tyr103Cys)
|
rs2138685516
|
|
|
NM_000257.4(MYH7):c.3090A>C (p.Gln1030His)
|
rs765570412
|
|
|
NM_000257.4(MYH7):c.3092T>C (p.Val1031Ala)
|
rs1892568655
|
|
|
NM_000257.4(MYH7):c.3099+6_3099+8del
|
rs2138662242
|
|
|
NM_000257.4(MYH7):c.3099T>A (p.Asp1033Glu)
|
rs761574227
|
|
|
NM_000257.4(MYH7):c.3100-3C>T
|
rs111761637
|
|
|
NM_000257.4(MYH7):c.3105_3116del (p.Gly1036_Glu1039del)
|
rs1892506869
|
|
|
NM_000257.4(MYH7):c.3107G>A (p.Gly1036Glu)
|
rs1000681552
|
|
|
NM_000257.4(MYH7):c.3119A>G (p.Gln1040Arg)
|
|
|
|
NM_000257.4(MYH7):c.311A>G (p.Asn104Ser)
|
rs1893015705
|
|
|
NM_000257.4(MYH7):c.3126G>T (p.Lys1042Asn)
|
rs730880766
|
|
|
NM_000257.4(MYH7):c.3137T>G (p.Met1046Arg)
|
rs763760498
|
|
|
NM_000257.4(MYH7):c.3139G>C (p.Asp1047His)
|
|
|
|
NM_000257.4(MYH7):c.3145_3177del (p.Glu1049_Leu1059del)
|
|
|
|
NM_000257.4(MYH7):c.3149G>A (p.Arg1050Gln)
|
rs759579652
|
|
|
NM_000257.4(MYH7):c.3149G>C (p.Arg1050Pro)
|
|
|
|
NM_000257.4(MYH7):c.3151G>A (p.Ala1051Thr)
|
|
|
|
NM_000257.4(MYH7):c.3152C>A (p.Ala1051Glu)
|
rs727504358
|
|
|
NM_000257.4(MYH7):c.3160A>G (p.Lys1054Glu)
|
rs730880768
|
|
|
NM_000257.4(MYH7):c.3170del (p.Gly1057fs)
|
|
|
|
NM_000257.4(MYH7):c.3172G>A (p.Asp1058Asn)
|
rs730880770
|
|
|
NM_000257.4(MYH7):c.3172G>T (p.Asp1058Tyr)
|
rs730880770
|
|
|
NM_000257.4(MYH7):c.3184A>T (p.Thr1062Ser)
|
rs1555337299
|
|
|
NM_000257.4(MYH7):c.3187del (p.Gln1063fs)
|
rs2138658854
|
|
|
NM_000257.4(MYH7):c.3190G>A (p.Glu1064Lys)
|
rs1892501366
|
|
|
NM_000257.4(MYH7):c.3194G>A (p.Ser1065Asn)
|
|
|
|
NM_000257.4(MYH7):c.3195del (p.Ser1065fs)
|
|
|
|
NM_000257.4(MYH7):c.3197del (p.Ile1066fs)
|
rs2138658810
|
|
|
NM_000257.4(MYH7):c.3202G>A (p.Asp1068Asn)
|
rs2138658795
|
|
|
NM_000257.4(MYH7):c.3202G>T (p.Asp1068Tyr)
|
|
|
|
NM_000257.4(MYH7):c.3203A>G (p.Asp1068Gly)
|
rs1892500486
|
|
|
NM_000257.4(MYH7):c.3209A>T (p.Glu1070Val)
|
rs1555337294
|
|
|
NM_000257.4(MYH7):c.3220C>T (p.Gln1074Ter)
|
|
|
|
NM_000257.4(MYH7):c.3229G>T (p.Asp1077Tyr)
|
rs759256990
|
|
|
NM_000257.4(MYH7):c.322C>T (p.Arg108Cys)
|
rs1893015309
|
|
|
NM_000257.4(MYH7):c.323G>C (p.Arg108Pro)
|
|
|
|
NM_000257.4(MYH7):c.3245+5T>A
|
|
|
|
NM_000257.4(MYH7):c.3246-3C>A
|
rs112287277
|
|
|
NM_000257.4(MYH7):c.3251A>T (p.Asp1084Val)
|
rs1892454098
|
|
|
NM_000257.4(MYH7):c.3259C>G (p.Leu1087Val)
|
|
|
|
NM_000257.4(MYH7):c.3263A>G (p.Asn1088Ser)
|
|
|
|
NM_000257.4(MYH7):c.3268C>G (p.Leu1090Val)
|
|
|
|
NM_000257.4(MYH7):c.3272A>G (p.Asn1091Ser)
|
|
|
|
NM_000257.4(MYH7):c.3275C>T (p.Ala1092Val)
|
|
|
|
NM_000257.4(MYH7):c.327C>G (p.Tyr109Ter)
|
rs36211408
|
|
|
NM_000257.4(MYH7):c.3283G>A (p.Glu1095Lys)
|
rs746074103
|
|
|
NM_000257.4(MYH7):c.3292C>G (p.Gln1098Glu)
|
|
|
|
NM_000257.4(MYH7):c.3294G>C (p.Gln1098His)
|
rs375323916
|
|
|
NM_000257.4(MYH7):c.3298C>T (p.Leu1100Phe)
|
|
|
|
NM_000257.4(MYH7):c.3299T>C (p.Leu1100Pro)
|
|
|
|
NM_000257.4(MYH7):c.3299T>G (p.Leu1100Arg)
|
rs1892450921
|
|
|
NM_000257.4(MYH7):c.3305G>A (p.Ser1102Asn)
|
|
|
|
NM_000257.4(MYH7):c.3307C>A (p.Gln1103Lys)
|
rs1892450549
|
|
|
NM_000257.4(MYH7):c.3309G>C (p.Gln1103His)
|
rs2138656185
|
|
|
NM_000257.4(MYH7):c.3310C>G (p.Leu1104Val)
|
|
|
|
NM_000257.4(MYH7):c.3319A>C (p.Lys1107Gln)
|
|
|
|
NM_000257.4(MYH7):c.3320A>C (p.Lys1107Thr)
|
rs886038988
|
|
|
NM_000257.4(MYH7):c.3328G>A (p.Glu1110Lys)
|
rs1060501440
|
|
|
NM_000257.4(MYH7):c.3336+2T>C
|
rs112968484
|
|
|
NM_000257.4(MYH7):c.3336+3G>A
|
rs397516180
|
|
|
NM_000257.4(MYH7):c.3336+6G>T
|
|
|
|
NM_000257.4(MYH7):c.3337-30_3337-18del
|
|
|
|
NM_000257.4(MYH7):c.3338C>T (p.Ala1113Val)
|
|
|
|
NM_000257.4(MYH7):c.3341G>C (p.Arg1114Pro)
|
rs730880773
|
|
|
NM_000257.4(MYH7):c.3343A>G (p.Ile1115Val)
|
rs2138654702
|
|
|
NM_000257.4(MYH7):c.3345C>G (p.Ile1115Met)
|
rs786204377
|
|
|
NM_000257.4(MYH7):c.3346G>A (p.Glu1116Lys)
|
rs727504274
|
|
|
NM_000257.4(MYH7):c.3346G>C (p.Glu1116Gln)
|
|
|
|
NM_000257.4(MYH7):c.3357G>C (p.Glu1119Asp)
|
rs2138654648
|
|
|
NM_000257.4(MYH7):c.3358G>A (p.Glu1120Lys)
|
rs863225098
|
|
|
NM_000257.4(MYH7):c.3359A>C (p.Glu1120Ala)
|
|
|
|
NM_000257.4(MYH7):c.3360_3371dup (p.Leu1122_Glu1125dup)
|
rs1555337159
|
|
|
NM_000257.4(MYH7):c.3367G>A (p.Glu1123Lys)
|
rs753801146
|
|
|
NM_000257.4(MYH7):c.3368A>C (p.Glu1123Ala)
|
|
|
|
NM_000257.4(MYH7):c.336G>A (p.Trp112Ter)
|
rs1431719401
|
|
|
NM_000257.4(MYH7):c.3370G>T (p.Ala1124Ser)
|
rs1041961
|
|
|
NM_000257.4(MYH7):c.3373G>A (p.Glu1125Lys)
|
rs730880904
|
|
|
NM_000257.4(MYH7):c.3373G>C (p.Glu1125Gln)
|
rs730880904
|
|
|
NM_000257.4(MYH7):c.3376C>T (p.Arg1126Cys)
|
rs767561318
|
|
|
NM_000257.4(MYH7):c.337A>C (p.Met113Leu)
|
|
|
|
NM_000257.4(MYH7):c.338T>A (p.Met113Lys)
|
rs1595091003
|
|
|
NM_000257.4(MYH7):c.339G>C (p.Met113Ile)
|
|
|
|
NM_000257.4(MYH7):c.3401A>G (p.Lys1134Arg)
|
|
|
|
NM_000257.4(MYH7):c.3406C>T (p.Arg1136Cys)
|
rs1204782115
|
|
|
NM_000257.4(MYH7):c.3409T>G (p.Ser1137Ala)
|
|
|
|
NM_000257.4(MYH7):c.3414C>G (p.Asp1138Glu)
|
|
|
|
NM_000257.4(MYH7):c.341T>A (p.Ile114Asn)
|
rs730880833
|
|
|
NM_000257.4(MYH7):c.341T>C (p.Ile114Thr)
|
rs730880833
|
|
|
NM_000257.4(MYH7):c.3422G>A (p.Arg1141Gln)
|
rs1407919500
|
|
|
NM_000257.4(MYH7):c.3424G>A (p.Glu1142Lys)
|
rs730880774
|
|
|
NM_000257.4(MYH7):c.3424del (p.Glu1142fs)
|
rs1352106557
|
|
|
NM_000257.4(MYH7):c.3428T>G (p.Leu1143Arg)
|
rs1479746343
|
|
|
NM_000257.4(MYH7):c.3439A>C (p.Ser1147Arg)
|
rs1595078448
|
|
|
NM_000257.4(MYH7):c.3445C>G (p.Arg1149Gly)
|
|
|
|
NM_000257.4(MYH7):c.3445C>T (p.Arg1149Trp)
|
rs2138654363
|
|
|
NM_000257.4(MYH7):c.3446G>A (p.Arg1149Gln)
|
rs768978215
|
|
|
NM_000257.4(MYH7):c.3446G>C (p.Arg1149Pro)
|
rs768978215
|
|
|
NM_000257.4(MYH7):c.345+1G>A
|
rs112907315
|
|
|
NM_000257.4(MYH7):c.345+1G>T
|
|
|
|
NM_000257.4(MYH7):c.3458C>G (p.Ala1153Gly)
|
rs2138654320
|
|
|
NM_000257.4(MYH7):c.346-1G>A
|
rs1057519221
|
|
|
NM_000257.4(MYH7):c.346-2A>T
|
|
|
|
NM_000257.4(MYH7):c.346-6C>G
|
rs1179088209
|
|
|
NM_000257.4(MYH7):c.3460G>A (p.Gly1154Ser)
|
rs1211784451
|
|
|
NM_000257.4(MYH7):c.3463G>A (p.Gly1155Arg)
|
|
|
|
NM_000257.4(MYH7):c.3466G>T (p.Ala1156Ser)
|
rs1226515434
|
|
|
NM_000257.4(MYH7):c.3469A>G (p.Thr1157Ala)
|
rs730880775
|
|
|
NM_000257.4(MYH7):c.3470C>A (p.Thr1157Lys)
|
rs1892412993
|
|
|
NM_000257.4(MYH7):c.3471dup (p.Ser1158fs)
|
|
|
|
NM_000257.4(MYH7):c.3476T>A (p.Val1159Glu)
|
rs1395277862
|
|
|
NM_000257.4(MYH7):c.3484G>A (p.Glu1162Lys)
|
|
|
|
NM_000257.4(MYH7):c.3492C>A (p.Asn1164Lys)
|
rs730880777
|
|
|
NM_000257.4(MYH7):c.3492C>G (p.Asn1164Lys)
|
|
|
|
NM_000257.4(MYH7):c.3498G>C (p.Lys1166Asn)
|
rs755958710
|
|
|
NM_000257.4(MYH7):c.3499C>G (p.Arg1167Gly)
|
rs751695298
|
|
|
NM_000257.4(MYH7):c.3502G>A (p.Glu1168Lys)
|
rs1566527832
|
|
|
NM_000257.4(MYH7):c.3505G>A (p.Ala1169Thr)
|
rs758666816
|
|
|
NM_000257.4(MYH7):c.3506C>T (p.Ala1169Val)
|
rs1423656410
|
|
|
NM_000257.4(MYH7):c.3508G>A (p.Glu1170Lys)
|
rs750627218
|
|
|
NM_000257.4(MYH7):c.3512dup (p.Gln1172fs)
|
rs1892410177
|
|
|
NM_000257.4(MYH7):c.3517A>G (p.Lys1173Glu)
|
|
|
|
NM_000257.4(MYH7):c.3520A>C (p.Met1174Leu)
|
rs1892409857
|
|
|
NM_000257.4(MYH7):c.3529G>A (p.Asp1177Asn)
|
rs1243958077
|
|
|
NM_000257.4(MYH7):c.3545C>T (p.Thr1182Met)
|
|
|
|
NM_000257.4(MYH7):c.3548T>A (p.Leu1183Gln)
|
|
|
|
NM_000257.4(MYH7):c.3551A>G (p.Gln1184Arg)
|
rs546586969
|
|
|
NM_000257.4(MYH7):c.3554A>C (p.His1185Pro)
|
|
|
|
NM_000257.4(MYH7):c.3556G>C (p.Glu1186Gln)
|
rs1290041752
|
|
|
NM_000257.4(MYH7):c.3557A>G (p.Glu1186Gly)
|
|
|
|
NM_000257.4(MYH7):c.3563C>G (p.Thr1188Ser)
|
rs1566527771
|
|
|
NM_000257.4(MYH7):c.3568G>T (p.Ala1190Ser)
|
|
|
|
NM_000257.4(MYH7):c.3569C>T (p.Ala1190Val)
|
|
|
|
NM_000257.4(MYH7):c.356G>T (p.Gly119Val)
|
|
|
|
NM_000257.4(MYH7):c.3571G>A (p.Ala1191Thr)
|
|
|
|
NM_000257.4(MYH7):c.3572C>A (p.Ala1191Asp)
|
|
|
|
NM_000257.4(MYH7):c.3572C>T (p.Ala1191Val)
|
rs1352759754
|
|
|
NM_000257.4(MYH7):c.3577C>G (p.Arg1193Gly)
|
|
|
|
NM_000257.4(MYH7):c.3577C>T (p.Arg1193Cys)
|
rs886039090
|
|
|
NM_000257.4(MYH7):c.3586C>T (p.His1196Tyr)
|
|
|
|
NM_000257.4(MYH7):c.3591_3592delinsAAGAAGC (p.Asp1198fs)
|
rs876657883
|
|
|
NM_000257.4(MYH7):c.3592G>T (p.Asp1198Tyr)
|
rs730880778
|
|
|
NM_000257.4(MYH7):c.3595A>G (p.Ser1199Gly)
|
rs1222899350
|
|
|
NM_000257.4(MYH7):c.3597C>A (p.Ser1199Arg)
|
|
|
|
NM_000257.4(MYH7):c.3614A>G (p.Glu1205Gly)
|
rs961038594
|
|
|
NM_000257.4(MYH7):c.3620T>A (p.Ile1207Asn)
|
rs730880780
|
|
|
NM_000257.4(MYH7):c.3621C>G (p.Ile1207Met)
|
rs529700838
|
|
|
NM_000257.4(MYH7):c.3622G>C (p.Asp1208His)
|
rs730880781
|
|
|
NM_000257.4(MYH7):c.3626A>G (p.Asn1209Ser)
|
rs397516189
|
|
|
NM_000257.4(MYH7):c.3627C>G (p.Asn1209Lys)
|
rs730880782
|
|
|
NM_000257.4(MYH7):c.3631C>G (p.Gln1211Glu)
|
rs1892401667
|
|
|
NM_000257.4(MYH7):c.3634C>T (p.Arg1212Trp)
|
rs1555337102
|
|
|
NM_000257.4(MYH7):c.3635G>A (p.Arg1212Gln)
|
rs1892401372
|
|
|
NM_000257.4(MYH7):c.3643C>T (p.Gln1215Ter)
|
|
|
|
NM_000257.4(MYH7):c.3644A>C (p.Gln1215Pro)
|
rs915081927
|
|
|
NM_000257.4(MYH7):c.3644A>G (p.Gln1215Arg)
|
|
|
|
NM_000257.4(MYH7):c.3645G>C (p.Gln1215His)
|
rs863225096
|
|
|
NM_000257.4(MYH7):c.3652G>C (p.Glu1218Gln)
|
|
|
|
NM_000257.4(MYH7):c.3658_3660del (p.Glu1220del)
|
rs397516190
|
|
|
NM_000257.4(MYH7):c.3663_3664insGGGAAG (p.Lys1221_Ser1222insGlyLys)
|
rs730880889
|
|
|
NM_000257.4(MYH7):c.3667G>A (p.Glu1223Lys)
|
rs794727410
|
|
|
NM_000257.4(MYH7):c.3667G>C (p.Glu1223Gln)
|
rs794727410
|
|
|
NM_000257.4(MYH7):c.3672C>G (p.Phe1224Leu)
|
|
|
|
NM_000257.4(MYH7):c.3676C>G (p.Leu1226Val)
|
rs876661211
|
|
|
NM_000257.4(MYH7):c.3680A>G (p.Glu1227Gly)
|
|
|
|
NM_000257.4(MYH7):c.3690C>A (p.Asp1230Glu)
|
rs370750044
|
|
|
NM_000257.4(MYH7):c.3691_3695del (p.Val1231fs)
|
|
|
|
NM_000257.4(MYH7):c.3705_3716del (p.Met1235_Ile1238del)
|
rs730880890
|
|
|
NM_000257.4(MYH7):c.3710A>G (p.Gln1237Arg)
|
rs1892397333
|
|
|
NM_000257.4(MYH7):c.3711G>C (p.Gln1237His)
|
rs1361182615
|
|
|
NM_000257.4(MYH7):c.3720G>C (p.Lys1240Asn)
|
rs2138653350
|
|
|
NM_000257.4(MYH7):c.3721G>A (p.Ala1241Thr)
|
|
|
|
NM_000257.4(MYH7):c.3721G>T (p.Ala1241Ser)
|
rs757538583
|
|
|
NM_000257.4(MYH7):c.3726G>A (p.Lys1242=)
|
|
|
|
NM_000257.4(MYH7):c.3728C>G (p.Ala1243Gly)
|
|
|
|
NM_000257.4(MYH7):c.3732C>A (p.Asn1244Lys)
|
|
|
|
NM_000257.4(MYH7):c.373G>A (p.Val125Ile)
|
rs730880729
|
|
|
NM_000257.4(MYH7):c.3740del (p.Lys1247fs)
|
rs1384488225
|
|
|
NM_000257.4(MYH7):c.3743T>A (p.Met1248Lys)
|
rs1060501434
|
|
|
NM_000257.4(MYH7):c.3748C>G (p.Arg1250Gly)
|
rs727503249
|
|
|
NM_000257.4(MYH7):c.3749G>A (p.Arg1250Gln)
|
|
|
|
NM_000257.4(MYH7):c.3749G>C (p.Arg1250Pro)
|
rs540263945
|
|
|
NM_000257.4(MYH7):c.3752C>T (p.Thr1251Ile)
|
rs1892382659
|
|
|
NM_000257.4(MYH7):c.3769A>C (p.Asn1257His)
|
rs1595077685
|
|
|
NM_000257.4(MYH7):c.3779G>C (p.Arg1260Pro)
|
rs747308839
|
|
|
NM_000257.4(MYH7):c.3788C>A (p.Ala1263Glu)
|
rs758889483
|
|
|
NM_000257.4(MYH7):c.3788C>T (p.Ala1263Val)
|
rs758889483
|
|
|
NM_000257.4(MYH7):c.3790del (p.Glu1264fs)
|
rs2138652434
|
|
|
NM_000257.4(MYH7):c.3797C>A (p.Thr1266Asn)
|
|
|
|
NM_000257.4(MYH7):c.3797C>G (p.Thr1266Ser)
|
|
|
|
NM_000257.4(MYH7):c.3797C>T (p.Thr1266Ile)
|
|
|
|
NM_000257.4(MYH7):c.3799C>T (p.Gln1267Ter)
|
rs2138652406
|
|
|
NM_000257.4(MYH7):c.3803G>C (p.Arg1268Pro)
|
rs397516194
|
|
|
NM_000257.4(MYH7):c.3808G>C (p.Val1270Leu)
|
|
|
|
NM_000257.4(MYH7):c.3809T>C (p.Val1270Ala)
|
|
|
|
NM_000257.4(MYH7):c.380C>T (p.Pro127Leu)
|
|
|
|
NM_000257.4(MYH7):c.3814_3816del (p.Asp1272del)
|
|
|
|
NM_000257.4(MYH7):c.3823A>C (p.Ser1275Arg)
|
rs730880784
|
|
|
NM_000257.4(MYH7):c.3825C>G (p.Ser1275Arg)
|
|
|
|
NM_000257.4(MYH7):c.3829C>T (p.Arg1277Trp)
|
rs727503248
|
|
|
NM_000257.4(MYH7):c.3830G>C (p.Arg1277Pro)
|
rs397516195
|
|
|
NM_000257.4(MYH7):c.3837G>C (p.Lys1279Asn)
|
rs2138652210
|
|
|
NM_000257.4(MYH7):c.3842A>G (p.Gln1281Arg)
|
rs2138652185
|
|
|
NM_000257.4(MYH7):c.3847G>A (p.Glu1283Lys)
|
rs1892375580
|
|
|
NM_000257.4(MYH7):c.3853+3G>A
|
|
|
|
NM_000257.4(MYH7):c.3854-3C>T
|
rs111467750
|
|
|
NM_000257.4(MYH7):c.3865C>G (p.Arg1289Gly)
|
rs180824037
|
|
|
NM_000257.4(MYH7):c.3866G>C (p.Arg1289Pro)
|
|
|
|
NM_000257.4(MYH7):c.3895T>G (p.Ser1299Ala)
|
|
|
|
NM_000257.4(MYH7):c.3896C>G (p.Ser1299Cys)
|
rs2138651446
|
|
|
NM_000257.4(MYH7):c.3907C>T (p.Arg1303Ter)
|
rs1443114333
|
|
|
NM_000257.4(MYH7):c.3914A>G (p.Lys1305Arg)
|
rs1595077213
|
|
|
NM_000257.4(MYH7):c.3915_3916delinsAA (p.Leu1306Ile)
|
rs786204174
|
|
|
NM_000257.4(MYH7):c.3926C>T (p.Thr1309Ile)
|
|
|
|
NM_000257.4(MYH7):c.3934C>G (p.Leu1312Val)
|
rs886050419
|
|
|
NM_000257.4(MYH7):c.3935T>C (p.Leu1312Pro)
|
rs1555336958
|
|
|
NM_000257.4(MYH7):c.3942C>A (p.Asp1314Glu)
|
rs921429381
|
|
|
NM_000257.4(MYH7):c.3943C>T (p.Leu1315Phe)
|
rs1410616733
|
|
|
NM_000257.4(MYH7):c.3944T>A (p.Leu1315His)
|
rs1892359761
|
|
|
NM_000257.4(MYH7):c.3944T>C (p.Leu1315Pro)
|
rs1892359761
|
|
|
NM_000257.4(MYH7):c.3948G>C (p.Lys1316Asn)
|
|
|
|
NM_000257.4(MYH7):c.3958G>C (p.Glu1320Gln)
|
|
|
|
NM_000257.4(MYH7):c.395C>T (p.Pro132Leu)
|
rs2138684739
|
|
|
NM_000257.4(MYH7):c.3961G>A (p.Glu1321Lys)
|
rs1892358961
|
|
|
NM_000257.4(MYH7):c.3972G>T (p.Lys1324Asn)
|
|
|
|
NM_000257.4(MYH7):c.3973-2A>T
|
rs397516197
|
|
|
NM_000257.4(MYH7):c.3974C>A (p.Ala1325Glu)
|
rs768393069
|
|
|
NM_000257.4(MYH7):c.3988G>A (p.Ala1330Thr)
|
rs906988456
|
|
|
NM_000257.4(MYH7):c.3994G>T (p.Ala1332Ser)
|
rs397516198
|
|
|
NM_000257.4(MYH7):c.4000C>T (p.Gln1334Ter)
|
rs1238061743
|
|
|
NM_000257.4(MYH7):c.4000_4010dup (p.His1338fs)
|
rs776665465
|
|
|
NM_000257.4(MYH7):c.4001A>T (p.Gln1334Leu)
|
|
|
|
NM_000257.4(MYH7):c.4003T>G (p.Ser1335Ala)
|
rs755254294
|
|
|
NM_000257.4(MYH7):c.4006G>A (p.Ala1336Thr)
|
rs1892320047
|
|
|
NM_000257.4(MYH7):c.4006G>C (p.Ala1336Pro)
|
|
|
|
NM_000257.4(MYH7):c.4010G>C (p.Arg1337Pro)
|
rs368575559
|
|
|
NM_000257.4(MYH7):c.4013A>C (p.His1338Pro)
|
rs1892317615
|
|
|
NM_000257.4(MYH7):c.4014del (p.His1338fs)
|
|
|
|
NM_000257.4(MYH7):c.4019G>T (p.Cys1340Phe)
|
rs2138649054
|
|
|
NM_000257.4(MYH7):c.4030C>T (p.Arg1344Trp)
|
rs727504352
|
|
|
NM_000257.4(MYH7):c.4033G>A (p.Glu1345Lys)
|
|
|
|
NM_000257.4(MYH7):c.4035_4036delinsAA (p.Gln1346Lys)
|
rs2138648969
|
|
|
NM_000257.4(MYH7):c.4036C>T (p.Gln1346Ter)
|
|
|
|
NM_000257.4(MYH7):c.4040A>G (p.Tyr1347Cys)
|
rs778542758
|
|
|
NM_000257.4(MYH7):c.4042GAG[2] (p.Glu1350del)
|
rs1892314995
|
|
|
NM_000257.4(MYH7):c.4045G>A (p.Glu1349Lys)
|
rs1566526272
|
|
|
NM_000257.4(MYH7):c.4046A>G (p.Glu1349Gly)
|
|
|
|
NM_000257.4(MYH7):c.404C>A (p.Thr135Asn)
|
rs1417172313
|
|
|
NM_000257.4(MYH7):c.4057G>A (p.Ala1353Thr)
|
|
|
|
NM_000257.4(MYH7):c.4058C>T (p.Ala1353Val)
|
rs376040196
|
|
|
NM_000257.4(MYH7):c.4060A>G (p.Lys1354Glu)
|
|
|
|
NM_000257.4(MYH7):c.406C>G (p.Pro136Ala)
|
rs2138684700
|
|
|
NM_000257.4(MYH7):c.4076G>T (p.Arg1359Leu)
|
rs750836033
|
|
|
NM_000257.4(MYH7):c.4079T>A (p.Val1360Asp)
|
rs730880789
|
|
|
NM_000257.4(MYH7):c.4079T>C (p.Val1360Ala)
|
rs730880789
|
|
|
NM_000257.4(MYH7):c.4089G>C (p.Lys1363Asn)
|
rs1892311979
|
|
|
NM_000257.4(MYH7):c.4090G>A (p.Ala1364Thr)
|
|
|
|
NM_000257.4(MYH7):c.4099G>A (p.Glu1367Lys)
|
rs1555336835
|
|
|
NM_000257.4(MYH7):c.4099del (p.Glu1367fs)
|
|
|
|
NM_000257.4(MYH7):c.4106C>G (p.Ala1369Gly)
|
rs1595076182
|
|
|
NM_000257.4(MYH7):c.410A>G (p.Glu137Gly)
|
|
|
|
NM_000257.4(MYH7):c.410A>T (p.Glu137Val)
|
rs2138684692
|
|
|
NM_000257.4(MYH7):c.4125T>A (p.Tyr1375Ter)
|
rs1566526148
|
|
|
NM_000257.4(MYH7):c.412G>A (p.Val138Met)
|
rs1173171288
|
|
|
NM_000257.4(MYH7):c.4133A>G (p.Asp1378Gly)
|
|
|
|
NM_000257.4(MYH7):c.4138A>G (p.Ile1380Val)
|
rs777589215
|
|
|
NM_000257.4(MYH7):c.4144C>T (p.Arg1382Trp)
|
rs730880910
|
|
|
NM_000257.4(MYH7):c.4145G>T (p.Arg1382Leu)
|
rs727504325
|
|
|
NM_000257.4(MYH7):c.4159G>A (p.Glu1387Lys)
|
rs730880792
|
|
|
NM_000257.4(MYH7):c.4159G>C (p.Glu1387Gln)
|
rs730880792
|
|
|
NM_000257.4(MYH7):c.4162G>C (p.Glu1388Gln)
|
|
|
|
NM_000257.4(MYH7):c.4164G>T (p.Glu1388Asp)
|
rs1595076087
|
|
|
NM_000257.4(MYH7):c.4170-5G>T
|
|
|
|
NM_000257.4(MYH7):c.4187G>A (p.Arg1396Gln)
|
rs370069461
|
|
|
NM_000257.4(MYH7):c.4190T>C (p.Leu1397Pro)
|
rs1892280463
|
|
|
NM_000257.4(MYH7):c.4190_4192del (p.Leu1397del)
|
rs730880891
|
|
|
NM_000257.4(MYH7):c.4192C>T (p.Gln1398Ter)
|
|
|
|
NM_000257.4(MYH7):c.4199C>A (p.Ala1400Asp)
|
rs730880794
|
|
|
NM_000257.4(MYH7):c.4199C>G (p.Ala1400Gly)
|
rs730880794
|
|
|
NM_000257.4(MYH7):c.4216G>A (p.Ala1406Thr)
|
|
|
|
NM_000257.4(MYH7):c.4216G>T (p.Ala1406Ser)
|
|
|
|
NM_000257.4(MYH7):c.4224T>G (p.Asn1408Lys)
|
rs747540624
|
|
|
NM_000257.4(MYH7):c.4225G>A (p.Ala1409Thr)
|
rs1381835227
|
|
|
NM_000257.4(MYH7):c.4234T>C (p.Ser1412Pro)
|
|
|
|
NM_000257.4(MYH7):c.4238C>A (p.Ser1413Ter)
|
rs730880796
|
|
|
NM_000257.4(MYH7):c.4240C>A (p.Leu1414Met)
|
rs201895208
|
|
|
NM_000257.4(MYH7):c.4250C>T (p.Thr1417Ile)
|
rs1057524383
|
|
|
NM_000257.4(MYH7):c.4256A>G (p.His1419Arg)
|
rs397516206
|
|
|
NM_000257.4(MYH7):c.4256A>T (p.His1419Leu)
|
|
|
|
NM_000257.4(MYH7):c.4264C>A (p.Gln1422Lys)
|
|
|
|
NM_000257.4(MYH7):c.4270G>A (p.Glu1424Lys)
|
rs730880798
|
|
|
NM_000257.4(MYH7):c.4271A>T (p.Glu1424Val)
|
|
|
|
NM_000257.4(MYH7):c.4279G>T (p.Asp1427Tyr)
|
|
|
|
NM_000257.4(MYH7):c.427C>A (p.Arg143=)
|
rs727503278
|
|
|
NM_000257.4(MYH7):c.4286T>C (p.Met1429Thr)
|
|
|
|
NM_000257.4(MYH7):c.4286TGG[1] (p.Val1430del)
|
rs1555336747
|
|
|
NM_000257.4(MYH7):c.4292A>G (p.Asp1431Gly)
|
rs776921449
|
|
|
NM_000257.4(MYH7):c.4301G>T (p.Arg1434Leu)
|
|
|
|
NM_000257.4(MYH7):c.4306A>G (p.Asn1436Asp)
|
rs1892272742
|
|
|
NM_000257.4(MYH7):c.4307A>G (p.Asn1436Ser)
|
rs1489767429
|
|
|
NM_000257.4(MYH7):c.4308TGC[5] (p.Ala1441dup)
|
rs1892272029
|
|
|
NM_000257.4(MYH7):c.430G>T (p.Gly144Cys)
|
|
|
|
NM_000257.4(MYH7):c.4312G>C (p.Ala1438Pro)
|
|
|
|
NM_000257.4(MYH7):c.431G>A (p.Gly144Asp)
|
rs730880834
|
|
|
NM_000257.4(MYH7):c.431G>T (p.Gly144Val)
|
rs730880834
|
|
|
NM_000257.4(MYH7):c.4325T>C (p.Leu1442Pro)
|
rs2138646429
|
|
|
NM_000257.4(MYH7):c.4327G>C (p.Asp1443His)
|
rs2138646412
|
|
|
NM_000257.4(MYH7):c.4330AAG[1] (p.Lys1445del)
|
|
|
|
NM_000257.4(MYH7):c.433A>G (p.Lys145Glu)
|
|
|
|
NM_000257.4(MYH7):c.4343A>G (p.Asn1448Ser)
|
rs753484341
|
|
|
NM_000257.4(MYH7):c.4347C>G (p.Phe1449Leu)
|
rs182311329
|
|
|
NM_000257.4(MYH7):c.4352A>C (p.Lys1451Thr)
|
|
|
|
NM_000257.4(MYH7):c.4357C>G (p.Leu1453Val)
|
|
|
|
NM_000257.4(MYH7):c.4371G>C (p.Lys1457Asn)
|
rs1555336697
|
|
|
NM_000257.4(MYH7):c.4372C>G (p.Gln1458Glu)
|
|
|
|
NM_000257.4(MYH7):c.4379A>G (p.Tyr1460Cys)
|
|
|
|
NM_000257.4(MYH7):c.4381G>A (p.Glu1461Lys)
|
rs2138645640
|
|
|
NM_000257.4(MYH7):c.4382A>G (p.Glu1461Gly)
|
rs995126992
|
|
|
NM_000257.4(MYH7):c.4384G>A (p.Glu1462Lys)
|
rs1892258263
|
|
|
NM_000257.4(MYH7):c.4396G>T (p.Glu1466Ter)
|
|
|
|
NM_000257.4(MYH7):c.4399C>G (p.Leu1467Val)
|
rs397516214
|
|
|
NM_000257.4(MYH7):c.439A>G (p.Arg147Gly)
|
|
|
|
NM_000257.4(MYH7):c.4409C>T (p.Ser1470Leu)
|
rs1468116782
|
|
|
NM_000257.4(MYH7):c.440G>A (p.Arg147Lys)
|
|
|
|
NM_000257.4(MYH7):c.4411C>T (p.Gln1471Ter)
|
rs397516216
|
|
|
NM_000257.4(MYH7):c.4414_4416del (p.Lys1472del)
|
rs1555336672
|
|
|
NM_000257.4(MYH7):c.441G>C (p.Arg147Ser)
|
rs1595090589
|
|
|
NM_000257.4(MYH7):c.4420G>C (p.Ala1474Pro)
|
|
|
|
NM_000257.4(MYH7):c.4424G>C (p.Arg1475Pro)
|
|
|
|
NM_000257.4(MYH7):c.4427C>T (p.Ser1476Phe)
|
rs1566525169
|
|
|
NM_000257.4(MYH7):c.4429C>A (p.Leu1477Ile)
|
rs1892255625
|
|
|
NM_000257.4(MYH7):c.444C>A (p.Ser148Arg)
|
rs374466146
|
|
|
NM_000257.4(MYH7):c.444C>G (p.Ser148Arg)
|
rs374466146
|
|
|
NM_000257.4(MYH7):c.4451T>C (p.Leu1484Pro)
|
rs1595074765
|
|
|
NM_000257.4(MYH7):c.4453A>C (p.Lys1485Gln)
|
|
|
|
NM_000257.4(MYH7):c.4454A>G (p.Lys1485Arg)
|
rs1566525134
|
|
|
NM_000257.4(MYH7):c.4459G>T (p.Ala1487Ser)
|
rs766909770
|
|
|
NM_000257.4(MYH7):c.4460C>T (p.Ala1487Val)
|
rs1595074732
|
|
|
NM_000257.4(MYH7):c.4465G>A (p.Glu1489Lys)
|
|
|
|
NM_000257.4(MYH7):c.4465GAG[3] (p.Glu1490dup)
|
rs1566525106
|
|
|
NM_000257.4(MYH7):c.4466A>G (p.Glu1489Gly)
|
|
|
|
NM_000257.4(MYH7):c.4467G>C (p.Glu1489Asp)
|
rs1892253421
|
|
|
NM_000257.4(MYH7):c.4475T>C (p.Leu1492Pro)
|
rs1892252730
|
|
|
NM_000257.4(MYH7):c.4477G>T (p.Glu1493Ter)
|
rs2138645254
|
|
|
NM_000257.4(MYH7):c.4484T>C (p.Leu1495Pro)
|
rs1566525081
|
|
|
NM_000257.4(MYH7):c.448G>A (p.Ala150Thr)
|
rs1892997372
|
|
|
NM_000257.4(MYH7):c.4493_4494delinsAT (p.Phe1498Tyr)
|
rs2138645175
|
|
|
NM_000257.4(MYH7):c.4506del (p.Asn1502fs)
|
rs2138645134
|
|
|
NM_000257.4(MYH7):c.4519+3G>T
|
rs1566525012
|
|
|
NM_000257.4(MYH7):c.451C>T (p.Pro151Ser)
|
|
|
|
NM_000257.4(MYH7):c.4520-1G>T
|
rs730880801
|
|
|
NM_000257.4(MYH7):c.4521G>C (p.Glu1507Asp)
|
|
|
|
NM_000257.4(MYH7):c.4526T>A (p.Ile1509Asn)
|
rs2138644579
|
|
|
NM_000257.4(MYH7):c.452C>T (p.Pro151Leu)
|
rs730880837
|
|
|
NM_000257.4(MYH7):c.4532A>T (p.Asp1511Val)
|
rs730880802
|
|
|
NM_000257.4(MYH7):c.4537A>T (p.Thr1513Ser)
|
rs397516222
|
|
|
NM_000257.4(MYH7):c.4541A>G (p.Glu1514Gly)
|
rs1351712658
|
|
|
NM_000257.4(MYH7):c.4543C>A (p.Gln1515Lys)
|
|
|
|
NM_000257.4(MYH7):c.4543C>G (p.Gln1515Glu)
|
rs1892239000
|
|
|
NM_000257.4(MYH7):c.4553C>A (p.Ser1518Tyr)
|
rs757809347
|
|
|
NM_000257.4(MYH7):c.4562A>G (p.Lys1521Arg)
|
rs1892238144
|
|
|
NM_000257.4(MYH7):c.4564A>G (p.Thr1522Ala)
|
|
|
|
NM_000257.4(MYH7):c.4567A>G (p.Ile1523Val)
|
rs1555336580
|
|
|
NM_000257.4(MYH7):c.4571A>C (p.His1524Pro)
|
rs767148171
|
|
|
NM_000257.4(MYH7):c.4571A>G (p.His1524Arg)
|
rs767148171
|
|
|
NM_000257.4(MYH7):c.457C>T (p.His153Tyr)
|
|
|
|
NM_000257.4(MYH7):c.457del (p.His153fs)
|
rs397516224
|
|
|
NM_000257.4(MYH7):c.4589G>A (p.Arg1530Gln)
|
rs730880803
|
|
|
NM_000257.4(MYH7):c.460A>G (p.Ile154Val)
|
rs730880838
|
|
|
NM_000257.4(MYH7):c.4611G>T (p.Lys1537Asn)
|
rs1892235698
|
|
|
NM_000257.4(MYH7):c.461T>C (p.Ile154Thr)
|
rs1595090551
|
|
|
NM_000257.4(MYH7):c.4622A>C (p.Gln1541Pro)
|
rs587779389
|
|
|
NM_000257.4(MYH7):c.4622A>T (p.Gln1541Leu)
|
rs587779389
|
|
|
NM_000257.4(MYH7):c.4628C>T (p.Ala1543Val)
|
rs1892235051
|
|
|
NM_000257.4(MYH7):c.4630C>A (p.Leu1544Met)
|
rs1595074238
|
|
|
NM_000257.4(MYH7):c.4631T>C (p.Leu1544Pro)
|
rs1892234748
|
|
|
NM_000257.4(MYH7):c.4639G>A (p.Ala1547Thr)
|
rs2138644219
|
|
|
NM_000257.4(MYH7):c.4643A>C (p.Glu1548Ala)
|
rs730880804
|
|
|
NM_000257.4(MYH7):c.4643A>T (p.Glu1548Val)
|
rs730880804
|
|
|
NM_000257.4(MYH7):c.4644+11_4644+12delinsAG
|
|
|
|
NM_000257.4(MYH7):c.4644+5G>C
|
rs730880797
|
|
|
NM_000257.4(MYH7):c.4644+5G>T
|
|
|
|
NM_000257.4(MYH7):c.4645-1G>A
|
|
|
|
NM_000257.4(MYH7):c.4645-2A>T
|
rs1892208790
|
|
|
NM_000257.4(MYH7):c.4646C>A (p.Ala1549Asp)
|
|
|
|
NM_000257.4(MYH7):c.4646C>G (p.Ala1549Gly)
|
rs1892208700
|
|
|
NM_000257.4(MYH7):c.4652T>C (p.Leu1551Pro)
|
|
|
|
NM_000257.4(MYH7):c.4656G>T (p.Glu1552Asp)
|
rs143471552
|
|
|
NM_000257.4(MYH7):c.4659C>G (p.His1553Gln)
|
|
|
|
NM_000257.4(MYH7):c.4660G>A (p.Glu1554Lys)
|
rs142694139
|
|
|
NM_000257.4(MYH7):c.4663G>A (p.Glu1555Lys)
|
rs727505176
|
|
|
NM_000257.4(MYH7):c.4663G>C (p.Glu1555Gln)
|
rs727505176
|
|
|
NM_000257.4(MYH7):c.4667G>A (p.Gly1556Asp)
|
rs1566524217
|
|
|
NM_000257.4(MYH7):c.4670A>G (p.Lys1557Arg)
|
rs1892206760
|
|
|
NM_000257.4(MYH7):c.4673T>G (p.Ile1558Ser)
|
rs200593263
|
|
|
NM_000257.4(MYH7):c.4681G>C (p.Ala1561Pro)
|
rs1064796334
|
|
|
NM_000257.4(MYH7):c.4697A>G (p.Asn1566Ser)
|
|
|
|
NM_000257.4(MYH7):c.4699C>T (p.Gln1567Ter)
|
rs1892204411
|
|
|
NM_000257.4(MYH7):c.4720C>T (p.Arg1574Trp)
|
rs397516227
|
|
|
NM_000257.4(MYH7):c.4721G>C (p.Arg1574Pro)
|
rs779715863
|
|
|
NM_000257.4(MYH7):c.4725G>T (p.Lys1575Asn)
|
rs45476496
|
|
|
NM_000257.4(MYH7):c.4729G>T (p.Ala1577Ser)
|
rs1892202753
|
|
|
NM_000257.4(MYH7):c.4735_4737del (p.Lys1579del)
|
|
|
|
NM_000257.4(MYH7):c.4741G>A (p.Glu1581Lys)
|
rs1892202458
|
|
|
NM_000257.4(MYH7):c.4747A>T (p.Met1583Leu)
|
rs1466998230
|
|
|
NM_000257.4(MYH7):c.474del (p.Asp159fs)
|
|
|
|
NM_000257.4(MYH7):c.4756G>A (p.Ala1586Thr)
|
rs1595073523
|
|
|
NM_000257.4(MYH7):c.475G>A (p.Asp159Asn)
|
rs730880155
|
|
|
NM_000257.4(MYH7):c.4764C>T (p.Arg1588=)
|
rs1566524059
|
|
|
NM_000257.4(MYH7):c.4774C>T (p.Arg1592Trp)
|
rs1468958169
|
|
|
NM_000257.4(MYH7):c.4780G>A (p.Val1594Met)
|
|
|
|
NM_000257.4(MYH7):c.4783G>A (p.Asp1595Asn)
|
rs1555336453
|
|
|
NM_000257.4(MYH7):c.4798T>C (p.Ser1600Pro)
|
|
|
|
NM_000257.4(MYH7):c.47T>C (p.Leu16Pro)
|
rs1893041022
|
|
|
NM_000257.4(MYH7):c.4802T>C (p.Leu1601Pro)
|
rs2138642131
|
|
|
NM_000257.4(MYH7):c.4815_4816del (p.Arg1606fs)
|
|
|
|
NM_000257.4(MYH7):c.4816C>G (p.Arg1606Gly)
|
|
|
|
NM_000257.4(MYH7):c.4817G>C (p.Arg1606Pro)
|
rs373514686
|
|
|
NM_000257.4(MYH7):c.4823G>T (p.Arg1608Leu)
|
rs587779391
|
|
|
NM_000257.4(MYH7):c.4828G>A (p.Glu1610Lys)
|
rs730880810
|
|
|
NM_000257.4(MYH7):c.4828G>C (p.Glu1610Gln)
|
rs730880810
|
|
|
NM_000257.4(MYH7):c.4831G>A (p.Ala1611Thr)
|
|
|
|
NM_000257.4(MYH7):c.4838G>A (p.Arg1613Lys)
|
rs397516230
|
|
|
NM_000257.4(MYH7):c.4844AGA[4] (p.Lys1617_Met1618insLys)
|
|
|
|
NM_000257.4(MYH7):c.4845G>T (p.Lys1615Asn)
|
rs1060501446
|
|
|
NM_000257.4(MYH7):c.4846A>G (p.Lys1616Glu)
|
|
|
|
NM_000257.4(MYH7):c.484T>C (p.Tyr162His)
|
|
|
|
NM_000257.4(MYH7):c.484T>G (p.Tyr162Asp)
|
rs1555338762
|
|
|
NM_000257.4(MYH7):c.4853T>C (p.Met1618Thr)
|
rs1257400566
|
|
|
NM_000257.4(MYH7):c.4855G>A (p.Glu1619Lys)
|
rs45442096
|
|
|
NM_000257.4(MYH7):c.485A>G (p.Tyr162Cys)
|
rs1057517771
|
|
|
NM_000257.4(MYH7):c.4870G>A (p.Glu1624Lys)
|
rs2138641790
|
|
|
NM_000257.4(MYH7):c.4874T>G (p.Met1625Arg)
|
|
|
|
NM_000257.4(MYH7):c.487C>T (p.Gln163Ter)
|
rs727505011
|
|
|
NM_000257.4(MYH7):c.488A>C (p.Gln163Pro)
|
|
|
|
NM_000257.4(MYH7):c.4894G>C (p.Ala1632Pro)
|
rs565663412
|
|
|
NM_000257.4(MYH7):c.4894G>T (p.Ala1632Ser)
|
|
|
|
NM_000257.4(MYH7):c.4897A>G (p.Asn1633Asp)
|
rs762272480
|
|
|
NM_000257.4(MYH7):c.489_491dup (p.Tyr164Ter)
|
rs1892995265
|
|
|
NM_000257.4(MYH7):c.4900C>A (p.Arg1634Ser)
|
rs397516232
|
|
|
NM_000257.4(MYH7):c.4900C>T (p.Arg1634Cys)
|
rs397516232
|
|
|
NM_000257.4(MYH7):c.4901G>A (p.Arg1634His)
|
rs545875689
|
|
|
NM_000257.4(MYH7):c.4901G>T (p.Arg1634Leu)
|
|
|
|
NM_000257.4(MYH7):c.4907C>T (p.Ala1636Val)
|
rs1555336406
|
|
|
NM_000257.4(MYH7):c.4909G>C (p.Ala1637Pro)
|
rs141122361
|
|
|
NM_000257.4(MYH7):c.490T>C (p.Tyr164His)
|
rs2138684414
|
|
|
NM_000257.4(MYH7):c.4912G>A (p.Glu1638Lys)
|
rs1238699518
|
|
|
NM_000257.4(MYH7):c.4915G>A (p.Ala1639Thr)
|
rs864309553
|
|
|
NM_000257.4(MYH7):c.4918C>T (p.Gln1640Ter)
|
|
|
|
NM_000257.4(MYH7):c.4919A>G (p.Gln1640Arg)
|
|
|
|
NM_000257.4(MYH7):c.491A>G (p.Tyr164Cys)
|
|
|
|
NM_000257.4(MYH7):c.4935C>A (p.Ser1645Arg)
|
rs1595073192
|
|
|
NM_000257.4(MYH7):c.4941G>T (p.Gln1647His)
|
rs749154313
|
|
|
NM_000257.4(MYH7):c.494T>C (p.Met165Thr)
|
rs730880920
|
|
|
NM_000257.4(MYH7):c.494T>G (p.Met165Arg)
|
rs730880920
|
|
|
NM_000257.4(MYH7):c.4953+3A>T
|
|
|
|
NM_000257.4(MYH7):c.4953G>C (p.Lys1651Asn)
|
|
|
|
NM_000257.4(MYH7):c.4955A>C (p.Asp1652Ala)
|
rs2138640913
|
|
|
NM_000257.4(MYH7):c.4960C>T (p.Gln1654Ter)
|
rs1892178080
|
|
|
NM_000257.4(MYH7):c.4966C>G (p.Gln1656Glu)
|
rs1555336334
|
|
|
NM_000257.4(MYH7):c.4966C>T (p.Gln1656Ter)
|
rs1555336334
|
|
|
NM_000257.4(MYH7):c.4970T>C (p.Leu1657Pro)
|
rs2138640870
|
|
|
NM_000257.4(MYH7):c.4973A>G (p.Asp1658Gly)
|
rs1214910821
|
|
|
NM_000257.4(MYH7):c.4979C>A (p.Ala1660Glu)
|
rs1006534868
|
|
|
NM_000257.4(MYH7):c.497T>G (p.Leu166Arg)
|
rs1555338757
|
|
|
NM_000257.4(MYH7):c.4981G>A (p.Val1661Ile)
|
rs1358266100
|
|
|
NM_000257.4(MYH7):c.4981G>C (p.Val1661Leu)
|
|
|
|
NM_000257.4(MYH7):c.4985G>A (p.Arg1662His)
|
rs370328209
|
|
|
NM_000257.4(MYH7):c.4985G>T (p.Arg1662Leu)
|
rs370328209
|
|
|
NM_000257.4(MYH7):c.4987G>A (p.Ala1663Thr)
|
|
|
|
NM_000257.4(MYH7):c.4988C>A (p.Ala1663Asp)
|
rs1892175888
|
|
|
NM_000257.4(MYH7):c.4988C>T (p.Ala1663Val)
|
rs1892175888
|
|
|
NM_000257.4(MYH7):c.4991A>G (p.Asn1664Ser)
|
rs1398693075
|
|
|
NM_000257.4(MYH7):c.4992C>A (p.Asn1664Lys)
|
rs763538103
|
|
|
NM_000257.4(MYH7):c.5004G>T (p.Lys1668Asn)
|
|
|
|
NM_000257.4(MYH7):c.5005G>T (p.Glu1669Ter)
|
rs45620235
|
|
|
NM_000257.4(MYH7):c.5005_5007del (p.Glu1669del)
|
rs587779394
|
|
|
NM_000257.4(MYH7):c.500C>T (p.Thr167Ile)
|
|
|
|
NM_000257.4(MYH7):c.5011A>C (p.Ile1671Leu)
|
rs1456418703
|
|
|
NM_000257.4(MYH7):c.5015C>T (p.Ala1672Val)
|
rs2138640632
|
|
|
NM_000257.4(MYH7):c.5020G>C (p.Val1674Leu)
|
|
|
|
NM_000257.4(MYH7):c.5020G>T (p.Val1674Leu)
|
rs397516235
|
|
|
NM_000257.4(MYH7):c.5021T>A (p.Val1674Glu)
|
rs2138640581
|
|
|
NM_000257.4(MYH7):c.502G>A (p.Asp168Asn)
|
rs730880840
|
|
|
NM_000257.4(MYH7):c.503-3C>G
|
rs1345179367
|
|
|
NM_000257.4(MYH7):c.5030G>C (p.Arg1677Pro)
|
|
|
|
NM_000257.4(MYH7):c.5037C>A (p.Asn1679Lys)
|
rs1358888752
|
|
|
NM_000257.4(MYH7):c.5059G>T (p.Glu1687Ter)
|
rs2138640442
|
|
|
NM_000257.4(MYH7):c.5065C>A (p.Arg1689Ser)
|
|
|
|
NM_000257.4(MYH7):c.5066G>C (p.Arg1689Pro)
|
|
|
|
NM_000257.4(MYH7):c.506G>A (p.Arg169Lys)
|
rs397516237
|
|
|
NM_000257.4(MYH7):c.5074G>T (p.Val1692Leu)
|
rs748373063
|
|
|
NM_000257.4(MYH7):c.5075_5076delinsAA (p.Val1692Glu)
|
rs1892169334
|
|
|
NM_000257.4(MYH7):c.5077G>A (p.Glu1693Lys)
|
rs1892169024
|
|
|
NM_000257.4(MYH7):c.5080del (p.Gln1694fs)
|
|
|
|
NM_000257.4(MYH7):c.5083A>G (p.Thr1695Ala)
|
|
|
|
NM_000257.4(MYH7):c.5087_5088del (p.Glu1696fs)
|
rs1595072676
|
|
|
NM_000257.4(MYH7):c.508_509del (p.Glu170fs)
|
rs1892988709
|
|
|
NM_000257.4(MYH7):c.5102T>A (p.Leu1701Gln)
|
rs1595072643
|
|
|
NM_000257.4(MYH7):c.5104_5118del (p.Ala1702_Leu1706del)
|
|
|
|
NM_000257.4(MYH7):c.5105C>T (p.Ala1702Val)
|
rs750013359
|
|
|
NM_000257.4(MYH7):c.5111A>G (p.Gln1704Arg)
|
rs1892166698
|
|
|
NM_000257.4(MYH7):c.5113G>T (p.Glu1705Ter)
|
rs1892166399
|
|
|
NM_000257.4(MYH7):c.5113del (p.Glu1705fs)
|
rs878853838
|
|
|
NM_000257.4(MYH7):c.511A>C (p.Asn171His)
|
rs730880842
|
|
|
NM_000257.4(MYH7):c.5132A>G (p.Glu1711Gly)
|
|
|
|
NM_000257.4(MYH7):c.5143C>G (p.Leu1715Val)
|
|
|
|
NM_000257.4(MYH7):c.5147T>C (p.Leu1716Pro)
|
|
|
|
NM_000257.4(MYH7):c.514C>A (p.Gln172Lys)
|
|
|
|
NM_000257.4(MYH7):c.5156A>G (p.Gln1719Arg)
|
rs727504403
|
|
|
NM_000257.4(MYH7):c.5157+4A>G
|
|
|
|
NM_000257.4(MYH7):c.5157+4del
|
|
|
|
NM_000257.4(MYH7):c.5157+6C>G
|
rs1356428037
|
|
|
NM_000257.4(MYH7):c.5158-8C>A
|
rs1595072402
|
|
|
NM_000257.4(MYH7):c.5180del (p.Lys1727fs)
|
rs1892155939
|
|
|
NM_000257.4(MYH7):c.5189T>C (p.Met1730Thr)
|
rs867004523
|
|
|
NM_000257.4(MYH7):c.5192A>T (p.Asp1731Val)
|
rs397516240
|
|
|
NM_000257.4(MYH7):c.5204C>T (p.Ser1735Phe)
|
rs1251170415
|
|
|
NM_000257.4(MYH7):c.5206C>T (p.Gln1736Ter)
|
rs730880812
|
|
|
NM_000257.4(MYH7):c.5208G>C (p.Gln1736His)
|
rs886050416
|
|
|
NM_000257.4(MYH7):c.5221G>A (p.Val1741Met)
|
rs1255832799
|
|
|
NM_000257.4(MYH7):c.5222T>C (p.Val1741Ala)
|
rs531250955
|
|
|
NM_000257.4(MYH7):c.5228A>G (p.Glu1743Gly)
|
rs1892152784
|
|
|
NM_000257.4(MYH7):c.5234T>C (p.Val1745Ala)
|
rs767027931
|
|
|
NM_000257.4(MYH7):c.5245A>G (p.Arg1749Gly)
|
rs562465062
|
|
|
NM_000257.4(MYH7):c.5248A>G (p.Asn1750Asp)
|
rs2138639378
|
|
|
NM_000257.4(MYH7):c.5252C>A (p.Ala1751Asp)
|
|
|
|
NM_000257.4(MYH7):c.5254GAG[1] (p.Glu1753del)
|
rs2138639303
|
|
|
NM_000257.4(MYH7):c.5257_5265dup (p.Ala1755_Lys1756insGluLysAla)
|
|
|
|
NM_000257.4(MYH7):c.5258AGAAGGCCA[1] (p.Lys1756_Ala1758del)
|
rs1566522846
|
|
|
NM_000257.4(MYH7):c.5258AGAAGGCCA[3] (p.Lys1756_Ala1758dup)
|
rs1566522846
|
|
|
NM_000257.4(MYH7):c.5261A>T (p.Lys1754Met)
|
rs2138639298
|
|
|
NM_000257.4(MYH7):c.5263G>T (p.Ala1755Ser)
|
rs730880814
|
|
|
NM_000257.4(MYH7):c.526A>G (p.Ile176Val)
|
rs1555338749
|
|
|
NM_000257.4(MYH7):c.5270A>G (p.Lys1757Arg)
|
rs2138639265
|
|
|
NM_000257.4(MYH7):c.5272G>A (p.Ala1758Thr)
|
rs878853839
|
|
|
NM_000257.4(MYH7):c.5281G>A (p.Asp1761Asn)
|
rs1306082414
|
|
|
NM_000257.4(MYH7):c.5283+2T>C
|
rs2138639201
|
|
|
NM_000257.4(MYH7):c.5283+4A>G
|
rs1892148705
|
|
|
NM_000257.4(MYH7):c.5283+6_5283+11del
|
rs2138639172
|
|
|
NM_000257.4(MYH7):c.5291T>C (p.Met1764Thr)
|
rs1284464290
|
|
|
NM_000257.4(MYH7):c.5292G>A (p.Met1764Ile)
|
|
|
|
NM_000257.4(MYH7):c.5294T>A (p.Met1765Lys)
|
rs1595072009
|
|
|
NM_000257.4(MYH7):c.52A>G (p.Lys18Glu)
|
rs730880827
|
|
|
NM_000257.4(MYH7):c.530+3G>A
|
rs2138683909
|
|
|
NM_000257.4(MYH7):c.5306T>C (p.Leu1769Pro)
|
rs1892140874
|
|
|
NM_000257.4(MYH7):c.531-12_531-11del
|
|
|
|
NM_000257.4(MYH7):c.531-13_531-8del
|
|
|
|
NM_000257.4(MYH7):c.531-16G>A
|
|
|
|
NM_000257.4(MYH7):c.531-2A>G
|
rs2138682576
|
|
|
NM_000257.4(MYH7):c.531-3_531del
|
rs397516242
|
|
|
NM_000257.4(MYH7):c.5312A>G (p.Lys1771Arg)
|
rs2138638747
|
|
|
NM_000257.4(MYH7):c.5316G>T (p.Glu1772Asp)
|
|
|
|
NM_000257.4(MYH7):c.5317C>A (p.Gln1773Lys)
|
rs730880815
|
|
|
NM_000257.4(MYH7):c.531C>A (p.Thr177=)
|
|
|
|
NM_000257.4(MYH7):c.531C>G (p.Thr177=)
|
rs200035152
|
|
|
NM_000257.4(MYH7):c.532G>C (p.Gly178Arg)
|
rs730880156
|
|
|
NM_000257.4(MYH7):c.5332C>T (p.His1778Tyr)
|
rs397516244
|
|
|
NM_000257.4(MYH7):c.5346G>A (p.Met1782Ile)
|
rs1566522632
|
|
|
NM_000257.4(MYH7):c.5353A>G (p.Asn1785Asp)
|
|
|
|
NM_000257.4(MYH7):c.5358G>A (p.Met1786Ile)
|
|
|
|
NM_000257.4(MYH7):c.5359G>A (p.Glu1787Lys)
|
|
|
|
NM_000257.4(MYH7):c.535G>A (p.Glu179Lys)
|
rs1445208076
|
|
|
NM_000257.4(MYH7):c.5371A>C (p.Lys1791Gln)
|
|
|
|
NM_000257.4(MYH7):c.5380C>G (p.Gln1794Glu)
|
rs397516247
|
|
|
NM_000257.4(MYH7):c.5389C>A (p.Leu1797Met)
|
|
|
|
NM_000257.4(MYH7):c.538T>A (p.Ser180Thr)
|
rs1555338704
|
|
|
NM_000257.4(MYH7):c.5395G>A (p.Glu1799Lys)
|
rs730880816
|
|
|
NM_000257.4(MYH7):c.5401del (p.Glu1801fs)
|
rs1892135022
|
|
|
NM_000257.4(MYH7):c.5407A>G (p.Ile1803Val)
|
rs1892134813
|
|
|
NM_000257.4(MYH7):c.5410G>A (p.Ala1804Thr)
|
rs730880818
|
|
|
NM_000257.4(MYH7):c.5410G>T (p.Ala1804Ser)
|
|
|
|
NM_000257.4(MYH7):c.5411C>G (p.Ala1804Gly)
|
rs970169331
|
|
|
NM_000257.4(MYH7):c.5416A>C (p.Lys1806Gln)
|
rs1555336161
|
|
|
NM_000257.4(MYH7):c.5420G>A (p.Gly1807Asp)
|
|
|
|
NM_000257.4(MYH7):c.542G>A (p.Gly181Glu)
|
rs2138682480
|
|
|
NM_000257.4(MYH7):c.5431C>A (p.Gln1811Lys)
|
rs1595071738
|
|
|
NM_000257.4(MYH7):c.5440A>G (p.Lys1814Glu)
|
|
|
|
NM_000257.4(MYH7):c.5441A>G (p.Lys1814Arg)
|
rs1892132855
|
|
|
NM_000257.4(MYH7):c.5458C>A (p.Arg1820=)
|
rs145734640
|
|
|
NM_000257.4(MYH7):c.5458C>G (p.Arg1820Gly)
|
rs145734640
|
|
|
NM_000257.4(MYH7):c.545C>T (p.Ala182Val)
|
|
|
|
NM_000257.4(MYH7):c.5470_5471delinsGG (p.Asn1824Gly)
|
rs1595071680
|
|
|
NM_000257.4(MYH7):c.5475G>T (p.Glu1825Asp)
|
rs1353101205
|
|
|
NM_000257.4(MYH7):c.5481G>T (p.Glu1827Asp)
|
|
|
|
NM_000257.4(MYH7):c.5482G>T (p.Ala1828Ser)
|
|
|
|
NM_000257.4(MYH7):c.5494C>T (p.Arg1832Cys)
|
rs201865159
|
|
|
NM_000257.4(MYH7):c.5500G>T (p.Ala1834Ser)
|
rs143362532
|
|
|
NM_000257.4(MYH7):c.5503G>C (p.Glu1835Gln)
|
rs758436258
|
|
|
NM_000257.4(MYH7):c.5504_5505del (p.Glu1835fs)
|
|
|
|
NM_000257.4(MYH7):c.5505G>C (p.Glu1835Asp)
|
rs750622554
|
|
|
NM_000257.4(MYH7):c.5516G>A (p.Gly1839Asp)
|
rs1566522362
|
|
|
NM_000257.4(MYH7):c.5518A>T (p.Met1840Leu)
|
rs1350134416
|
|
|
NM_000257.4(MYH7):c.5524A>G (p.Lys1842Glu)
|
rs2138637999
|
|
|
NM_000257.4(MYH7):c.5528G>A (p.Ser1843Asn)
|
rs1555336129
|
|
|
NM_000257.4(MYH7):c.5541C>G (p.Ile1847Met)
|
rs770583523
|
|
|
NM_000257.4(MYH7):c.5548C>T (p.Leu1850Phe)
|
rs2138637902
|
|
|
NM_000257.4(MYH7):c.554C>T (p.Thr185Ile)
|
rs2138682451
|
|
|
NM_000257.4(MYH7):c.5552C>T (p.Thr1851Ile)
|
|
|
|
NM_000257.4(MYH7):c.5556C>G (p.Tyr1852Ter)
|
rs730880823
|
|
|
NM_000257.4(MYH7):c.5559+3G>A
|
rs1355535952
|
|
|
NM_000257.4(MYH7):c.5560-3C>T
|
rs2138636075
|
|
|
NM_000257.4(MYH7):c.5560-5C>T
|
rs1892086046
|
|
|
NM_000257.4(MYH7):c.5560-6C>A
|
rs767956231
|
|
|
NM_000257.4(MYH7):c.5576A>G (p.Lys1859Arg)
|
|
|
|
NM_000257.4(MYH7):c.5588G>T (p.Arg1863Leu)
|
|
|
|
NM_000257.4(MYH7):c.5588_5593del (p.Arg1863_Leu1864del)
|
|
|
|
NM_000257.4(MYH7):c.5592_5618del (p.Gln1865_Leu1873del)
|
rs2138635901
|
|
|
NM_000257.4(MYH7):c.559A>C (p.Asn187His)
|
|
|
|
NM_000257.4(MYH7):c.5602G>A (p.Val1868Ile)
|
rs560939959
|
|
|
NM_000257.4(MYH7):c.560A>G (p.Asn187Ser)
|
rs397516249
|
|
|
NM_000257.4(MYH7):c.5616G>T (p.Gln1872His)
|
rs1356446816
|
|
|
NM_000257.4(MYH7):c.561C>G (p.Asn187Lys)
|
rs1057517772
|
|
|
NM_000257.4(MYH7):c.5623G>T (p.Val1875Phe)
|
rs2138635884
|
|
|
NM_000257.4(MYH7):c.5624T>C (p.Val1875Ala)
|
rs886038830
|
|
|
NM_000257.4(MYH7):c.5629G>C (p.Ala1877Pro)
|
|
|
|
NM_000257.4(MYH7):c.562A>C (p.Thr188Pro)
|
rs1892958246
|
|
|
NM_000257.4(MYH7):c.5630C>G (p.Ala1877Gly)
|
rs2138635866
|
|
|
NM_000257.4(MYH7):c.5638C>G (p.Arg1880Gly)
|
rs1057522617
|
|
|
NM_000257.4(MYH7):c.5638C>T (p.Arg1880Cys)
|
rs1057522617
|
|
|
NM_000257.4(MYH7):c.5641C>T (p.Gln1881Ter)
|
rs1892080773
|
|
|
NM_000257.4(MYH7):c.5647G>C (p.Glu1883Gln)
|
|
|
|
NM_000257.4(MYH7):c.5654C>T (p.Ala1885Val)
|
rs1892080169
|
|
|
NM_000257.4(MYH7):c.5655+3G>A
|
rs1060501433
|
|
|
NM_000257.4(MYH7):c.5655+4A>G
|
rs1566521603
|
|
|
NM_000257.4(MYH7):c.5655+5G>A
|
rs1595070689
|
|
|
NM_000257.4(MYH7):c.5656-6C>A
|
rs1289270339
|
|
|
NM_000257.4(MYH7):c.5657A>T (p.Glu1886Val)
|
rs1314857358
|
|
|
NM_000257.4(MYH7):c.5662C>T (p.Gln1888Ter)
|
rs2138635453
|
|
|
NM_000257.4(MYH7):c.566A>G (p.Lys189Arg)
|
rs2138682389
|
|
|
NM_000257.4(MYH7):c.5672C>G (p.Thr1891Ser)
|
|
|
|
NM_000257.4(MYH7):c.5672C>T (p.Thr1891Ile)
|
rs2138635423
|
|
|
NM_000257.4(MYH7):c.5680T>C (p.Ser1894Pro)
|
rs1892072183
|
|
|
NM_000257.4(MYH7):c.5687T>C (p.Phe1896Ser)
|
rs778562229
|
|
|
NM_000257.4(MYH7):c.5690G>A (p.Arg1897His)
|
rs727503240
|
|
|
NM_000257.4(MYH7):c.5690G>T (p.Arg1897Leu)
|
|
|
|
NM_000257.4(MYH7):c.5695G>A (p.Val1899Met)
|
|
|
|
NM_000257.4(MYH7):c.5704G>A (p.Glu1902Lys)
|
rs187073962
|
|
|
NM_000257.4(MYH7):c.5723A>T (p.Glu1908Val)
|
rs1892070240
|
|
|
NM_000257.4(MYH7):c.5725C>G (p.Arg1909Gly)
|
rs146796870
|
|
|
NM_000257.4(MYH7):c.5725C>T (p.Arg1909Trp)
|
rs146796870
|
|
|
NM_000257.4(MYH7):c.572T>A (p.Val191Asp)
|
rs876661135
|
|
|
NM_000257.4(MYH7):c.5734A>G (p.Ile1912Val)
|
|
|
|
NM_000257.4(MYH7):c.5734A>T (p.Ile1912Phe)
|
rs1396486231
|
|
|
NM_000257.4(MYH7):c.5735del (p.Ile1912fs)
|
rs2138635212
|
|
|
NM_000257.4(MYH7):c.5740G>T (p.Glu1914Ter)
|
rs397516254
|
|
|
NM_000257.4(MYH7):c.574A>G (p.Ile192Val)
|
rs1060501442
|
|
|
NM_000257.4(MYH7):c.5761C>G (p.Arg1921Gly)
|
rs539290591
|
|
|
NM_000257.4(MYH7):c.5761C>T (p.Arg1921Trp)
|
rs539290591
|
|
|
NM_000257.4(MYH7):c.5762G>C (p.Arg1921Pro)
|
rs397516256
|
|
|
NM_000257.4(MYH7):c.5771G>C (p.Ser1924Thr)
|
|
|
|
NM_000257.4(MYH7):c.5789A>C (p.Lys1930Thr)
|
|
|
|
NM_000257.4(MYH7):c.578A>G (p.Gln193Arg)
|
|
|
|
NM_000257.4(MYH7):c.578A>T (p.Gln193Leu)
|
rs1472887126
|
|
|
NM_000257.4(MYH7):c.5790+2del
|
|
|
|
NM_000257.4(MYH7):c.5791-2A>G
|
|
|
|
NM_000257.4(MYH7):c.5791-2_5791-1delinsT
|
rs1892029271
|
|
|
NM_000257.4(MYH7):c.5791-6C>G
|
rs1056204842
|
|
|
NM_000257.4(MYH7):c.5797A>C (p.Asn1933His)
|
|
|
|
NM_000257.4(MYH7):c.5798A>G (p.Asn1933Ser)
|
rs2138633164
|
|
|
NM_000257.4(MYH7):c.5798A>T (p.Asn1933Ile)
|
rs2138633164
|
|
|
NM_000257.4(MYH7):c.5807A>G (p.Ter1936Trp)
|
rs367543053
|
|
|
NM_000257.4(MYH7):c.5808G>A (p.Ter1936=)
|
|
|
|
NM_000257.4(MYH7):c.581A>G (p.Tyr194Cys)
|
|
|
|
NM_000257.4(MYH7):c.582C>G (p.Tyr194Ter)
|
|
|
|
NM_000257.4(MYH7):c.5G>A (p.Gly2Glu)
|
|
|
|
NM_000257.4(MYH7):c.615C>A (p.Ser205Arg)
|
|
|
|
NM_000257.4(MYH7):c.615C>G (p.Ser205Arg)
|
|
|
|
NM_000257.4(MYH7):c.616A>C (p.Lys206Gln)
|
rs2138682245
|
|
|
NM_000257.4(MYH7):c.616AAG[1] (p.Lys207del)
|
rs1595089639
|
|
|
NM_000257.4(MYH7):c.617A>G (p.Lys206Arg)
|
rs730880846
|
|
|
NM_000257.4(MYH7):c.623A>C (p.Asp208Ala)
|
|
|
|
NM_000257.4(MYH7):c.623A>T (p.Asp208Val)
|
|
|
|
NM_000257.4(MYH7):c.625C>A (p.Gln209Lys)
|
rs878853840
|
|
|
NM_000257.4(MYH7):c.625C>T (p.Gln209Ter)
|
rs878853840
|
|
|
NM_000257.4(MYH7):c.627G>C (p.Gln209His)
|
rs955983170
|
|
|
NM_000257.4(MYH7):c.630C>A (p.Ser210Arg)
|
|
|
|
NM_000257.4(MYH7):c.634G>A (p.Gly212Ser)
|
rs1244877100
|
|
|
NM_000257.4(MYH7):c.637A>C (p.Lys213Gln)
|
|
|
|
NM_000257.4(MYH7):c.637A>G (p.Lys213Glu)
|
rs1555338682
|
|
|
NM_000257.4(MYH7):c.640-3C>T
|
|
|
|
NM_000257.4(MYH7):c.640-5T>A
|
rs866601695
|
|
|
NM_000257.4(MYH7):c.641G>A (p.Gly214Asp)
|
|
|
|
NM_000257.4(MYH7):c.646C>G (p.Leu216Val)
|
rs772488436
|
|
|
NM_000257.4(MYH7):c.647T>C (p.Leu216Pro)
|
rs1892948213
|
|
|
NM_000257.4(MYH7):c.658A>C (p.Ile220Leu)
|
rs779190577
|
|
|
NM_000257.4(MYH7):c.662T>C (p.Ile221Thr)
|
rs878853841
|
|
|
NM_000257.4(MYH7):c.666G>C (p.Gln222His)
|
rs1489868206
|
|
|
NM_000257.4(MYH7):c.667G>A (p.Ala223Thr)
|
rs121913645
|
|
|
NM_000257.4(MYH7):c.671A>G (p.Asn224Ser)
|
|
|
|
NM_000257.4(MYH7):c.682_693dup (p.Gly231_Asn232insGluAlaPheGly)
|
|
|
|
NM_000257.4(MYH7):c.685G>A (p.Ala229Thr)
|
rs1892945595
|
|
|
NM_000257.4(MYH7):c.686C>T (p.Ala229Val)
|
rs876657888
|
|
|
NM_000257.4(MYH7):c.689T>C (p.Phe230Ser)
|
rs886038844
|
|
|
NM_000257.4(MYH7):c.690T>G (p.Phe230Leu)
|
rs1892945237
|
|
|
NM_000257.4(MYH7):c.697G>A (p.Ala233Thr)
|
rs730880848
|
|
|
NM_000257.4(MYH7):c.697G>T (p.Ala233Ser)
|
rs730880848
|
|
|
NM_000257.4(MYH7):c.698C>T (p.Ala233Val)
|
rs727504362
|
|
|
NM_000257.4(MYH7):c.700A>G (p.Lys234Glu)
|
rs1892944510
|
|
|
NM_000257.4(MYH7):c.702G>T (p.Lys234Asn)
|
rs757766021
|
|
|
NM_000257.4(MYH7):c.703A>G (p.Thr235Ala)
|
rs876657889
|
|
|
NM_000257.4(MYH7):c.706G>T (p.Val236Phe)
|
rs397516261
|
|
|
NM_000257.4(MYH7):c.707T>C (p.Val236Ala)
|
rs397516262
|
|
|
NM_000257.4(MYH7):c.714C>G (p.Asn238Lys)
|
rs202141819
|
|
|
NM_000257.4(MYH7):c.716A>C (p.Asp239Ala)
|
rs2138681668
|
|
|
NM_000257.4(MYH7):c.717C>G (p.Asp239Glu)
|
rs876661376
|
|
|
NM_000257.4(MYH7):c.721T>C (p.Ser241Pro)
|
rs1892942972
|
|
|
NM_000257.4(MYH7):c.722C>A (p.Ser241Tyr)
|
rs2138681654
|
|
|
NM_000257.4(MYH7):c.722C>T (p.Ser241Phe)
|
rs2138681654
|
|
|
NM_000257.4(MYH7):c.732+5G>C
|
rs1892941646
|
|
|
NM_000257.4(MYH7):c.733-2del
|
|
|
|
NM_000257.4(MYH7):c.734G>A (p.Gly245Glu)
|
rs397516267
|
|
|
NM_000257.4(MYH7):c.734G>T (p.Gly245Val)
|
|
|
|
NM_000257.4(MYH7):c.740T>C (p.Phe247Ser)
|
|
|
|
NM_000257.4(MYH7):c.742A>G (p.Ile248Val)
|
|
|
|
NM_000257.4(MYH7):c.743T>C (p.Ile248Thr)
|
rs727504280
|
|
|
NM_000257.4(MYH7):c.744T>G (p.Ile248Met)
|
rs2138681308
|
|
|
NM_000257.4(MYH7):c.745C>T (p.Arg249Ter)
|
rs730880852
|
|
|
NM_000257.4(MYH7):c.748A>T (p.Ile250Phe)
|
rs397516268
|
|
|
NM_000257.4(MYH7):c.751C>T (p.His251Tyr)
|
|
|
|
NM_000257.4(MYH7):c.758G>A (p.Gly253Glu)
|
rs730880853
|
|
|
NM_000257.4(MYH7):c.758G>T (p.Gly253Val)
|
rs730880853
|
|
|
NM_000257.4(MYH7):c.764C>A (p.Thr255Lys)
|
rs1892933875
|
|
|
NM_000257.4(MYH7):c.770A>G (p.Lys257Arg)
|
rs2138681218
|
|
|
NM_000257.4(MYH7):c.776C>A (p.Ala259Glu)
|
rs730880854
|
|
|
NM_000257.4(MYH7):c.778T>A (p.Ser260Thr)
|
rs1555338628
|
|
|
NM_000257.4(MYH7):c.784G>A (p.Asp262Asn)
|
rs1892932812
|
|
|
NM_000257.4(MYH7):c.788_789del (p.Ile263fs)
|
|
|
|
NM_000257.4(MYH7):c.789A>G (p.Ile263Met)
|
rs730880855
|
|
|
NM_000257.4(MYH7):c.794C>T (p.Thr265Ile)
|
rs876661375
|
|
|
NM_000257.4(MYH7):c.797-1G>A
|
rs112639546
|
|
|
NM_000257.4(MYH7):c.797-3C>T
|
|
|
|
NM_000257.4(MYH7):c.797A>G (p.Tyr266Cys)
|
rs2138680281
|
|
|
NM_000257.4(MYH7):c.799C>A (p.Leu267Ile)
|
rs727504409
|
|
|
NM_000257.4(MYH7):c.802C>G (p.Leu268Val)
|
|
|
|
NM_000257.4(MYH7):c.803T>C (p.Leu268Pro)
|
rs1555338582
|
|
|
NM_000257.4(MYH7):c.806A>G (p.Glu269Gly)
|
|
|
|
NM_000257.4(MYH7):c.80A>G (p.Gln27Arg)
|
rs878853843
|
|
|
NM_000257.4(MYH7):c.810dup (p.Ser271fs)
|
rs2138680236
|
|
|
NM_000257.4(MYH7):c.815G>C (p.Arg272Thr)
|
rs1555338578
|
|
|
NM_000257.4(MYH7):c.816_817del (p.Arg272fs)
|
rs1399993803
|
|
|
NM_000257.4(MYH7):c.817G>A (p.Val273Ile)
|
rs1892911147
|
|
|
NM_000257.4(MYH7):c.817G>T (p.Val273Phe)
|
rs1892911147
|
|
|
NM_000257.4(MYH7):c.824T>C (p.Phe275Ser)
|
|
|
|
NM_000257.4(MYH7):c.829C>G (p.Leu277Val)
|
rs786204367
|
|
|
NM_000257.4(MYH7):c.836C>T (p.Ala279Val)
|
|
|
|
NM_000257.4(MYH7):c.838G>A (p.Glu280Lys)
|
|
|
|
NM_000257.4(MYH7):c.839A>G (p.Glu280Gly)
|
|
|
|
NM_000257.4(MYH7):c.839del (p.Glu280fs)
|
rs2138680128
|
|
|
NM_000257.4(MYH7):c.842G>A (p.Arg281Lys)
|
rs730880856
|
|
|
NM_000257.4(MYH7):c.847T>A (p.Tyr283Asn)
|
|
|
|
NM_000257.4(MYH7):c.848A>G (p.Tyr283Cys)
|
rs727503274
|
|
|
NM_000257.4(MYH7):c.850C>T (p.His284Tyr)
|
|
|
|
NM_000257.4(MYH7):c.857T>G (p.Phe286Cys)
|
rs1892909255
|
|
|
NM_000257.4(MYH7):c.862C>T (p.Gln288Ter)
|
|
|
|
NM_000257.4(MYH7):c.863A>G (p.Gln288Arg)
|
|
|
|
NM_000257.4(MYH7):c.870_873del (p.Ser291fs)
|
rs2138680020
|
|
|
NM_000257.4(MYH7):c.872C>T (p.Ser291Phe)
|
rs397516272
|
|
|
NM_000257.4(MYH7):c.878A>G (p.Lys293Arg)
|
rs1595088787
|
|
|
NM_000257.4(MYH7):c.883C>A (p.Pro295Thr)
|
rs1060501453
|
|
|
NM_000257.4(MYH7):c.88C>A (p.Pro30Thr)
|
|
|
|
NM_000257.4(MYH7):c.88C>G (p.Pro30Ala)
|
rs1016438334
|
|
|
NM_000257.4(MYH7):c.895+1G>A
|
rs111547156
|
|
|
NM_000257.4(MYH7):c.895+3G>A
|
rs1338735834
|
|
|
NM_000257.4(MYH7):c.895+43_1518del
|
|
|
|
NM_000257.4(MYH7):c.895G>A (p.Asp299Asn)
|
rs1060501444
|
|
|
NM_000257.4(MYH7):c.895G>C (p.Asp299His)
|
rs1060501444
|
|
|
NM_000257.4(MYH7):c.896-2A>G
|
rs112886469
|
|
|
NM_000257.4(MYH7):c.896-3T>C
|
|
|
|
NM_000257.4(MYH7):c.896-3T>G
|
rs752594622
|
|
|
NM_000257.4(MYH7):c.896-5C>G
|
rs756051608
|
|
|
NM_000257.4(MYH7):c.896A>G (p.Asp299Gly)
|
|
|
|
NM_000257.4(MYH7):c.899T>C (p.Met300Thr)
|
rs1892892787
|
|
|
NM_000257.4(MYH7):c.899T>G (p.Met300Arg)
|
rs1892892787
|
|
|
NM_000257.4(MYH7):c.89C>T (p.Pro30Leu)
|
rs1595091475
|
|
|
NM_000257.4(MYH7):c.909C>G (p.Ile303Met)
|
rs1892892401
|
|
|
NM_000257.4(MYH7):c.916A>C (p.Asn306His)
|
|
|
|
NM_000257.4(MYH7):c.918C>A (p.Asn306Lys)
|
rs1043038056
|
|
|
NM_000257.4(MYH7):c.919C>T (p.Pro307Ser)
|
rs1892891910
|
|
|
NM_000257.4(MYH7):c.921del (p.Tyr308fs)
|
rs2138679364
|
|
|
NM_000257.4(MYH7):c.932C>A (p.Ala311Glu)
|
rs2138679338
|
|
|
NM_000257.4(MYH7):c.936C>A (p.Phe312Leu)
|
rs771522982
|
|
|
NM_000257.4(MYH7):c.937A>C (p.Ile313Leu)
|
rs1323103660
|
|
|
NM_000257.4(MYH7):c.937A>G (p.Ile313Val)
|
rs1323103660
|
|
|
NM_000257.4(MYH7):c.940T>C (p.Ser314Pro)
|
|
|
|
NM_000257.4(MYH7):c.945A>G (p.Gln315=)
|
|
|
|
NM_000257.4(MYH7):c.949G>C (p.Glu317Gln)
|
|
|
|
NM_000257.4(MYH7):c.953C>A (p.Thr318Asn)
|
rs397516274
|
|
|
NM_000257.4(MYH7):c.964T>A (p.Ser322Thr)
|
rs730880859
|
|
|
NM_000257.4(MYH7):c.964_966dup (p.Ser322_Ile323insSer)
|
|
|
|
NM_000257.4(MYH7):c.967A>G (p.Ile323Val)
|
rs730880860
|
|
|
NM_000257.4(MYH7):c.968T>G (p.Ile323Ser)
|
rs397516275
|
|
|
NM_000257.4(MYH7):c.971A>G (p.Asp324Gly)
|
|
|
|
NM_000257.4(MYH7):c.973G>T (p.Asp325Tyr)
|
rs1566536395
|
|
|
NM_000257.4(MYH7):c.974A>G (p.Asp325Gly)
|
rs1566536390
|
|
|
NM_000257.4(MYH7):c.974A>T (p.Asp325Val)
|
|
|
|
NM_000257.4(MYH7):c.976G>A (p.Ala326Thr)
|
rs372731424
|
|
|
NM_000257.4(MYH7):c.976G>T (p.Ala326Ser)
|
|
|
|
NM_000257.4(MYH7):c.985C>T (p.Leu329Phe)
|
rs1566536367
|
|
|
NM_000257.4(MYH7):c.986T>C (p.Leu329Pro)
|
rs2138679130
|
|
|
NM_000257.4(MYH7):c.995C>T (p.Thr332Ile)
|
|
|
|
NM_000257.4(MYH7):c.996T>A (p.Thr332=)
|
|
|
|
NM_000257.4(MYH7):c.997G>A (p.Asp333Asn)
|
rs2138679083
|
|
|
NM_000257.4(MYH7):c.998A>G (p.Asp333Gly)
|
rs2138679077
|
|
|
NM_000257.4(MYH7):c.998A>T (p.Asp333Val)
|
rs2138679077
|
|
|
NM_000257.4(MYH7):c.999+5G>A
|
|
|
|
NM_000257.4(MYH7):c.999T>G (p.Asp333Glu)
|
rs1440440623
|
|
|
NM_000257.4(MYH7):c.9T>G (p.Asp3Glu)
|
rs1893043424
|
|
|
NM_000258.3(MYL3):c.100G>A (p.Glu34Lys)
|
|
|
|
NM_000258.3(MYL3):c.103G>A (p.Val35Ile)
|
rs997633110
|
|
|
NM_000258.3(MYL3):c.110T>C (p.Phe37Ser)
|
rs2106914314
|
|
|
NM_000258.3(MYL3):c.11A>G (p.Lys4Arg)
|
rs727503301
|
|
|
NM_000258.3(MYL3):c.122A>G (p.Lys41Arg)
|
|
|
|
NM_000258.3(MYL3):c.124A>T (p.Ile42Phe)
|
rs1322033572
|
|
|
NM_000258.3(MYL3):c.130-1G>A
|
rs1701987231
|
|
|
NM_000258.3(MYL3):c.133G>C (p.Glu45Gln)
|
rs1701987196
|
|
|
NM_000258.3(MYL3):c.14A>C (p.Lys5Thr)
|
|
|
|
NM_000258.3(MYL3):c.157+1G>A
|
rs2106910461
|
|
|
NM_000258.3(MYL3):c.157+6del
|
rs1482795996
|
|
|
NM_000258.3(MYL3):c.158-2A>G
|
rs1701985013
|
|
|
NM_000258.3(MYL3):c.158-3C>A
|
|
|
|
NM_000258.3(MYL3):c.170C>A (p.Ala57Asp)
|
rs139794067
|
|
|
NM_000258.3(MYL3):c.170C>G (p.Ala57Gly)
|
rs139794067
|
|
|
NM_000258.3(MYL3):c.170C>T (p.Ala57Val)
|
rs139794067
|
|
|
NM_000258.3(MYL3):c.175A>G (p.Met59Val)
|
|
|
|
NM_000258.3(MYL3):c.175A>T (p.Met59Leu)
|
rs1575498261
|
|
|
NM_000258.3(MYL3):c.188G>C (p.Arg63Pro)
|
rs139354105
|
|
|
NM_000258.3(MYL3):c.191C>T (p.Thr64Ile)
|
rs1575498249
|
|
|
NM_000258.3(MYL3):c.193C>G (p.Pro65Ala)
|
rs730880960
|
|
|
NM_000258.3(MYL3):c.1_2delinsG (p.Met1fs)
|
rs1702012642
|
|
|
NM_000258.3(MYL3):c.200G>A (p.Cys67Tyr)
|
|
|
|
NM_000258.3(MYL3):c.206T>A (p.Met69Lys)
|
rs1575498236
|
|
|
NM_000258.3(MYL3):c.210G>C (p.Lys70Asn)
|
|
|
|
NM_000258.3(MYL3):c.218A>G (p.Tyr73Cys)
|
rs1701983870
|
|
|
NM_000258.3(MYL3):c.227G>A (p.Cys76Tyr)
|
rs370857205
|
|
|
NM_000258.3(MYL3):c.22C>A (p.Pro8Thr)
|
|
|
|
NM_000258.3(MYL3):c.233A>T (p.Asp78Val)
|
|
|
|
NM_000258.3(MYL3):c.251G>C (p.Gly84Ala)
|
rs1701983148
|
|
|
NM_000258.3(MYL3):c.265C>T (p.Gln89Ter)
|
rs1701982801
|
|
|
NM_000258.3(MYL3):c.274G>A (p.Val92Met)
|
rs770961856
|
|
|
NM_000258.3(MYL3):c.275T>C (p.Val92Ala)
|
|
|
|
NM_000258.3(MYL3):c.277C>T (p.Leu93Phe)
|
|
|
|
NM_000258.3(MYL3):c.280C>A (p.Arg94Ser)
|
rs730880961
|
|
|
NM_000258.3(MYL3):c.281G>C (p.Arg94Pro)
|
|
|
|
NM_000258.3(MYL3):c.283G>T (p.Val95Phe)
|
rs1553639921
|
|
|
NM_000258.3(MYL3):c.287T>C (p.Leu96Pro)
|
|
|
|
NM_000258.3(MYL3):c.289G>A (p.Gly97Arg)
|
|
|
|
NM_000258.3(MYL3):c.292A>G (p.Lys98Glu)
|
rs730880957
|
|
|
NM_000258.3(MYL3):c.295C>G (p.Pro99Ala)
|
rs1701982094
|
|
|
NM_000258.3(MYL3):c.296C>G (p.Pro99Arg)
|
rs2106909627
|
|
|
NM_000258.3(MYL3):c.306A>G (p.Glu102=)
|
|
|
|
NM_000258.3(MYL3):c.307+3A>G
|
rs2106909563
|
|
|
NM_000258.3(MYL3):c.307+4G>C
|
|
|
|
NM_000258.3(MYL3):c.307+4G>T
|
|
|
|
NM_000258.3(MYL3):c.308-17G>T
|
|
|
|
NM_000258.3(MYL3):c.308-3C>T
|
rs112911997
|
|
|
NM_000258.3(MYL3):c.317C>T (p.Thr106Ile)
|
|
|
|
NM_000258.3(MYL3):c.31G>T (p.Asp11Tyr)
|
|
|
|
NM_000258.3(MYL3):c.326T>C (p.Met109Thr)
|
rs1263399755
|
|
|
NM_000258.3(MYL3):c.337A>G (p.Thr113Ala)
|
|
|
|
NM_000258.3(MYL3):c.338C>T (p.Thr113Ile)
|
rs397516278
|
|
|
NM_000258.3(MYL3):c.349A>G (p.Met117Val)
|
rs1701968895
|
|
|
NM_000258.3(MYL3):c.358C>T (p.His120Tyr)
|
rs1701968794
|
|
|
NM_000258.3(MYL3):c.365C>T (p.Ser122Phe)
|
|
|
|
NM_000258.3(MYL3):c.36T>G (p.Asp12Glu)
|
rs138567316
|
|
|
NM_000258.3(MYL3):c.374A>G (p.Lys125Arg)
|
|
|
|
NM_000258.3(MYL3):c.383G>A (p.Gly128Asp)
|
rs869025485
|
|
|
NM_000258.3(MYL3):c.383G>C (p.Gly128Ala)
|
rs869025485
|
|
|
NM_000258.3(MYL3):c.383G>T (p.Gly128Val)
|
|
|
|
NM_000258.3(MYL3):c.389A>G (p.Tyr130Cys)
|
|
|
|
NM_000258.3(MYL3):c.400G>A (p.Val134Met)
|
rs776163180
|
|
|
NM_000258.3(MYL3):c.401_405dup (p.Gly136fs)
|
rs1701967931
|
|
|
NM_000258.3(MYL3):c.412C>T (p.Arg138Trp)
|
rs1471322504
|
|
|
NM_000258.3(MYL3):c.413G>A (p.Arg138Gln)
|
rs1057524652
|
|
|
NM_000258.3(MYL3):c.418T>C (p.Phe140Leu)
|
|
|
|
NM_000258.3(MYL3):c.424A>G (p.Lys142Glu)
|
rs1553639863
|
|
|
NM_000258.3(MYL3):c.434A>C (p.Asn145Thr)
|
|
|
|
NM_000258.3(MYL3):c.435T>A (p.Asn145Lys)
|
rs774762882
|
|
|
NM_000258.3(MYL3):c.446T>C (p.Met149Thr)
|
rs202141423
|
|
|
NM_000258.3(MYL3):c.451G>A (p.Ala151Thr)
|
rs869025486
|
|
|
NM_000258.3(MYL3):c.454G>A (p.Glu152Lys)
|
rs199474705
|
|
|
NM_000258.3(MYL3):c.454_458delinsCTCACTCGACCTTCTCACTTCTCCATAGGTGTCAGCGCCTACCACCAGGGGGCCTGGCAAATCAGCATGGATCCAGATGCTCCAGCAAACCATTACTGCATGTCACCACG (p.Glu152_Leu153delinsLeuThrArgProSerHisPheSerIleGlyValSerAlaTyrHisGlnGlyAlaTrpGlnIleSerMetAspProAspAlaProAlaAsnHisTyrCysMetSerProArg)
|
|
|
|
NM_000258.3(MYL3):c.457del (p.Leu153fs)
|
rs1064793448
|
|
|
NM_000258.3(MYL3):c.463C>G (p.His155Asp)
|
rs199474706
|
|
|
NM_000258.3(MYL3):c.464A>T (p.His155Leu)
|
|
|
|
NM_000258.3(MYL3):c.466G>C (p.Val156Leu)
|
rs199474707
|
|
|
NM_000258.3(MYL3):c.480G>A (p.Leu160=)
|
|
|
|
NM_000258.3(MYL3):c.481+4A>G
|
|
|
|
NM_000258.3(MYL3):c.481G>A (p.Gly161Ser)
|
|
|
|
NM_000258.3(MYL3):c.486G>C (p.Glu162Asp)
|
|
|
|
NM_000258.3(MYL3):c.487A>G (p.Arg163Gly)
|
rs2106905119
|
|
|
NM_000258.3(MYL3):c.494C>G (p.Thr165Arg)
|
rs1701956180
|
|
|
NM_000258.3(MYL3):c.49C>T (p.Pro17Ser)
|
rs1702011848
|
|
|
NM_000258.3(MYL3):c.503A>C (p.Glu168Ala)
|
|
|
|
NM_000258.3(MYL3):c.505G>A (p.Val169Met)
|
|
|
|
NM_000258.3(MYL3):c.505G>C (p.Val169Leu)
|
|
|
|
NM_000258.3(MYL3):c.508G>A (p.Glu170Lys)
|
rs864622538
|
|
|
NM_000258.3(MYL3):c.508G>C (p.Glu170Gln)
|
rs864622538
|
|
|
NM_000258.3(MYL3):c.518T>A (p.Met173Lys)
|
rs730880962
|
|
|
NM_000258.3(MYL3):c.518T>C (p.Met173Thr)
|
rs730880962
|
|
|
NM_000258.3(MYL3):c.536C>A (p.Ser179Tyr)
|
rs1701955175
|
|
|
NM_000258.3(MYL3):c.536C>T (p.Ser179Phe)
|
rs1701955175
|
|
|
NM_000258.3(MYL3):c.539A>G (p.Asn180Ser)
|
rs1575497410
|
|
|
NM_000258.3(MYL3):c.540T>G (p.Asn180Lys)
|
|
|
|
NM_000258.3(MYL3):c.553T>A (p.Tyr185Asn)
|
rs2106904797
|
|
|
NM_000258.3(MYL3):c.559+2T>C
|
|
|
|
NM_000258.3(MYL3):c.55G>T (p.Ala19Ser)
|
|
|
|
NM_000258.3(MYL3):c.560-1G>C
|
rs1701953138
|
|
|
NM_000258.3(MYL3):c.560-2del
|
rs1553639782
|
|
|
NM_000258.3(MYL3):c.563_566dup (p.Lys190fs)
|
|
|
|
NM_000258.3(MYL3):c.568A>G (p.Lys190Glu)
|
rs1701953031
|
|
|
NM_000258.3(MYL3):c.572A>C (p.His191Pro)
|
|
|
|
NM_000258.3(MYL3):c.575T>A (p.Ile192Asn)
|
|
|
|
NM_000258.3(MYL3):c.579G>A (p.Met193Ile)
|
rs1701951962
|
|
|
NM_000258.3(MYL3):c.579del (p.Met193fs)
|
|
|
|
NM_000258.3(MYL3):c.61C>G (p.Pro21Ala)
|
rs779557153
|
|
|
NM_000258.3(MYL3):c.64G>T (p.Ala22Ser)
|
|
|
|
NM_000258.3(MYL3):c.69del (p.Ala24fs)
|
|
|
|
NM_000258.3(MYL3):c.91C>A (p.Arg31Ser)
|
rs377026344
|
|
|
NM_000258.3(MYL3):c.94C>T (p.Pro32Ser)
|
|
|
|
NM_000337.6(SGCD):c.101G>A (p.Cys34Tyr)
|
rs757994622
|
|
|
NM_000337.6(SGCD):c.104T>C (p.Leu35Pro)
|
rs1014551583
|
|
|
NM_000337.6(SGCD):c.112T>C (p.Phe38Leu)
|
|
|
|
NM_000337.6(SGCD):c.115G>C (p.Val39Leu)
|
|
|
|
NM_000337.6(SGCD):c.116T>C (p.Val39Ala)
|
rs794729164
|
|
|
NM_000337.6(SGCD):c.121C>A (p.Leu41Ile)
|
rs769047953
|
|
|
NM_000337.6(SGCD):c.127A>T (p.Met43Leu)
|
rs2127716663
|
|
|
NM_000337.6(SGCD):c.130A>G (p.Ile44Val)
|
|
|
|
NM_000337.6(SGCD):c.131T>G (p.Ile44Ser)
|
rs1419851820
|
|
|
NM_000337.6(SGCD):c.155T>C (p.Met52Thr)
|
rs2127716699
|
|
|
NM_000337.6(SGCD):c.175G>T (p.Val59Phe)
|
rs1274415049
|
|
|
NM_000337.6(SGCD):c.197G>C (p.Gly66Ala)
|
rs1581095772
|
|
|
NM_000337.6(SGCD):c.242G>C (p.Gly81Ala)
|
rs2127875419
|
|
|
NM_000337.6(SGCD):c.25C>T (p.His9Tyr)
|
rs1320640424
|
|
|
NM_000337.6(SGCD):c.262C>T (p.Pro88Ser)
|
rs1489575164
|
|
|
NM_000337.6(SGCD):c.265C>G (p.Leu89Val)
|
rs754342073
|
|
|
NM_000337.6(SGCD):c.268T>A (p.Tyr90Asn)
|
rs786205286
|
|
|
NM_000337.6(SGCD):c.271G>A (p.Ala91Thr)
|
|
|
|
NM_000337.6(SGCD):c.274A>C (p.Lys92Gln)
|
rs1159364901
|
|
|
NM_000337.6(SGCD):c.285G>C (p.Gln95His)
|
rs1421460814
|
|
|
NM_000337.6(SGCD):c.28C>T (p.His10Tyr)
|
rs2127716448
|
|
|
NM_000337.6(SGCD):c.296G>T (p.Gly99Val)
|
rs955284985
|
|
|
NM_000337.6(SGCD):c.298A>T (p.Asn100Tyr)
|
|
|
|
NM_000337.6(SGCD):c.3+1G>T
|
rs777787493
|
|
|
NM_000337.6(SGCD):c.310T>C (p.Phe104Leu)
|
rs989244785
|
|
|
NM_000337.6(SGCD):c.313_315del (p.Lys105del)
|
rs1760622721
|
|
|
NM_000337.6(SGCD):c.315G>C (p.Lys105Asn)
|
rs1760622985
|
|
|
NM_000337.6(SGCD):c.337A>C (p.Asn113His)
|
rs1760624404
|
|
|
NM_000337.6(SGCD):c.354G>C (p.Gln118His)
|
rs770930747
|
|
|
NM_000337.6(SGCD):c.356C>G (p.Thr119Ser)
|
rs1581216333
|
|
|
NM_000337.6(SGCD):c.356C>T (p.Thr119Ile)
|
rs1581216333
|
|
|
NM_000337.6(SGCD):c.358A>G (p.Lys120Glu)
|
rs956992133
|
|
|
NM_000337.6(SGCD):c.373C>T (p.Leu125Phe)
|
|
|
|
NM_000337.6(SGCD):c.376A>G (p.Ile126Val)
|
|
|
|
NM_000337.6(SGCD):c.382+4A>G
|
|
|
|
NM_000337.6(SGCD):c.383G>A (p.Gly128Asp)
|
|
|
|
NM_000337.6(SGCD):c.38C>T (p.Thr13Ile)
|
rs1768840932
|
|
|
NM_000337.6(SGCD):c.397G>C (p.Glu133Gln)
|
rs746717495
|
|
|
NM_000337.6(SGCD):c.40A>G (p.Met14Val)
|
|
|
|
NM_000337.6(SGCD):c.413A>G (p.Lys138Arg)
|
|
|
|
NM_000337.6(SGCD):c.413A>T (p.Lys138Ile)
|
rs1760869370
|
|
|
NM_000337.6(SGCD):c.414A>T (p.Lys138Asn)
|
rs1760869467
|
|
|
NM_000337.6(SGCD):c.415T>A (p.Phe139Ile)
|
rs886044160
|
|
|
NM_000337.6(SGCD):c.41T>C (p.Met14Thr)
|
|
|
|
NM_000337.6(SGCD):c.437G>T (p.Gly146Val)
|
rs1438925313
|
|
|
NM_000337.6(SGCD):c.446T>C (p.Leu149Pro)
|
|
|
|
NM_000337.6(SGCD):c.452C>T (p.Ser151Phe)
|
rs766924806
|
|
|
NM_000337.6(SGCD):c.467A>G (p.Glu156Gly)
|
|
|
|
NM_000337.6(SGCD):c.469G>A (p.Val157Met)
|
rs2113389554
|
|
|
NM_000337.6(SGCD):c.47G>A (p.Gly16Asp)
|
|
|
|
NM_000337.6(SGCD):c.481G>A (p.Ala161Thr)
|
rs886043902
|
|
|
NM_000337.6(SGCD):c.488G>A (p.Arg163Lys)
|
|
|
|
NM_000337.6(SGCD):c.491T>C (p.Leu164Ser)
|
rs2113389732
|
|
|
NM_000337.6(SGCD):c.503-9T>A
|
|
|
|
NM_000337.6(SGCD):c.534A>G (p.Ile178Met)
|
rs1474496504
|
|
|
NM_000337.6(SGCD):c.541C>T (p.Pro181Ser)
|
|
|
|
NM_000337.6(SGCD):c.56G>C (p.Gly19Ala)
|
|
|
|
NM_000337.6(SGCD):c.580_582dup (p.Glu194dup)
|
rs2113176912
|
|
|
NM_000337.6(SGCD):c.586C>A (p.Pro196Thr)
|
rs1757387093
|
|
|
NM_000337.6(SGCD):c.590C>G (p.Thr197Ser)
|
rs1241850589
|
|
|
NM_000337.6(SGCD):c.616A>G (p.Lys206Glu)
|
rs1327580871
|
|
|
NM_000337.6(SGCD):c.620G>A (p.Gly207Glu)
|
|
|
|
NM_000337.6(SGCD):c.622G>A (p.Val208Met)
|
|
|
|
NM_000337.6(SGCD):c.626A>C (p.Glu209Ala)
|
|
|
|
NM_000337.6(SGCD):c.631A>C (p.Asn211His)
|
rs527801800
|
|
|
NM_000337.6(SGCD):c.649A>G (p.Met217Val)
|
rs2113177878
|
|
|
NM_000337.6(SGCD):c.662G>A (p.Cys221Tyr)
|
rs1561899959
|
|
|
NM_000337.6(SGCD):c.663C>A (p.Cys221Ter)
|
rs1175344271
|
|
|
NM_000337.6(SGCD):c.683A>C (p.Glu228Ala)
|
rs2113178162
|
|
|
NM_000337.6(SGCD):c.691G>A (p.Asp231Asn)
|
rs2113178203
|
|
|
NM_000337.6(SGCD):c.699+8del
|
rs1581539353
|
|
|
NM_000337.6(SGCD):c.735A>T (p.Arg245Ser)
|
|
|
|
NM_000337.6(SGCD):c.744T>G (p.His248Gln)
|
rs1160680799
|
|
|
NM_000337.6(SGCD):c.760A>G (p.Thr254Ala)
|
|
|
|
NM_000337.6(SGCD):c.761C>T (p.Thr254Ile)
|
rs372607729
|
|
|
NM_000337.6(SGCD):c.775_777del (p.Lys259del)
|
rs1207864818
|
|
|
NM_000337.6(SGCD):c.790T>C (p.Cys264Arg)
|
rs2113186659
|
|
|
NM_000337.6(SGCD):c.792C>G (p.Cys264Trp)
|
rs367616773
|
|
|
NM_000337.6(SGCD):c.793G>C (p.Val265Leu)
|
|
|
|
NM_000337.6(SGCD):c.798C>A (p.Cys266Ter)
|
rs371850230
|
|
|
NM_000337.6(SGCD):c.815T>G (p.Phe272Cys)
|
|
|
|
NM_000337.6(SGCD):c.832G>T (p.Ala278Ser)
|
rs753240054
|
|
|
NM_000337.6(SGCD):c.833C>G (p.Ala278Gly)
|
|
|
|
NM_000337.6(SGCD):c.835G>A (p.Gly279Arg)
|
|
|
|
NM_000337.6(SGCD):c.841A>G (p.Thr281Ala)
|
|
|
|
NM_000337.6(SGCD):c.865T>C (p.Cys289Arg)
|
|
|
|
NM_000363.5(TNNI3):c.103G>A (p.Ala35Thr)
|
rs1408482066
|
|
|
NM_000363.5(TNNI3):c.104C>T (p.Ala35Val)
|
rs1190447904
|
|
|
NM_000363.5(TNNI3):c.107A>G (p.Lys36Arg)
|
rs886039441
|
|
|
NM_000363.5(TNNI3):c.108+5G>A
|
rs1261858318
|
|
|
NM_000363.5(TNNI3):c.108G>A (p.Lys36=)
|
rs2085737744
|
|
|
NM_000363.5(TNNI3):c.109-1G>C
|
rs2147285332
|
|
|
NM_000363.5(TNNI3):c.10G>A (p.Gly4Arg)
|
rs1327794718
|
|
|
NM_000363.5(TNNI3):c.114A>T (p.Lys38Asn)
|
rs730881066
|
|
|
NM_000363.5(TNNI3):c.114del (p.Lys38fs)
|
rs772607683
|
|
|
NM_000363.5(TNNI3):c.114dup (p.Ser39fs)
|
rs772607683
|
|
|
NM_000363.5(TNNI3):c.115T>C (p.Ser39Pro)
|
|
|
|
NM_000363.5(TNNI3):c.116C>G (p.Ser39Cys)
|
rs2085732731
|
|
|
NM_000363.5(TNNI3):c.11G>A (p.Gly4Glu)
|
rs1351385449
|
|
|
NM_000363.5(TNNI3):c.12-2A>G
|
|
|
|
NM_000363.5(TNNI3):c.121A>G (p.Ile41Val)
|
|
|
|
NM_000363.5(TNNI3):c.123C>G (p.Ile41Met)
|
rs1311862702
|
|
|
NM_000363.5(TNNI3):c.125C>T (p.Ser42Phe)
|
rs2085732640
|
|
|
NM_000363.5(TNNI3):c.127G>A (p.Ala43Thr)
|
rs727505023
|
|
|
NM_000363.5(TNNI3):c.128C>G (p.Ala43Gly)
|
rs2085732607
|
|
|
NM_000363.5(TNNI3):c.131C>G (p.Ser44Trp)
|
rs730881085
|
|
|
NM_000363.5(TNNI3):c.134G>A (p.Arg45Lys)
|
rs2147285293
|
|
|
NM_000363.5(TNNI3):c.137A>T (p.Lys46Ile)
|
rs2147285289
|
|
|
NM_000363.5(TNNI3):c.13A>G (p.Ser5Gly)
|
rs2085740955
|
|
|
NM_000363.5(TNNI3):c.150+1G>C
|
rs2085732359
|
|
|
NM_000363.5(TNNI3):c.154C>G (p.Leu52Val)
|
rs2147285032
|
|
|
NM_000363.5(TNNI3):c.155T>C (p.Leu52Pro)
|
rs2147285030
|
|
|
NM_000363.5(TNNI3):c.157_158delinsGG (p.Leu53Gly)
|
|
|
|
NM_000363.5(TNNI3):c.15C>A (p.Ser5Arg)
|
rs989588363
|
|
|
NM_000363.5(TNNI3):c.166A>G (p.Ile56Val)
|
rs765219322
|
|
|
NM_000363.5(TNNI3):c.173A>G (p.Lys58Arg)
|
rs878853955
|
|
|
NM_000363.5(TNNI3):c.184G>A (p.Glu62Lys)
|
rs1357844466
|
|
|
NM_000363.5(TNNI3):c.190G>C (p.Glu64Gln)
|
|
|
|
NM_000363.5(TNNI3):c.190G>T (p.Glu64Ter)
|
rs1245885836
|
|
|
NM_000363.5(TNNI3):c.196G>C (p.Glu66Gln)
|
|
|
|
NM_000363.5(TNNI3):c.196GAG[1] (p.Glu67del)
|
|
|
|
NM_000363.5(TNNI3):c.198G>C (p.Glu66Asp)
|
rs3729710
|
|
|
NM_000363.5(TNNI3):c.205C>A (p.Arg69Ser)
|
rs1555864037
|
|
|
NM_000363.5(TNNI3):c.211G>A (p.Glu71Lys)
|
rs2147284929
|
|
|
NM_000363.5(TNNI3):c.220C>A (p.Arg74Ser)
|
rs375795196
|
|
|
NM_000363.5(TNNI3):c.220C>T (p.Arg74Cys)
|
rs375795196
|
|
|
NM_000363.5(TNNI3):c.221G>C (p.Arg74Pro)
|
rs886039022
|
|
|
NM_000363.5(TNNI3):c.232A>T (p.Thr78Ser)
|
rs786204399
|
|
|
NM_000363.5(TNNI3):c.239G>A (p.Cys80Tyr)
|
|
|
|
NM_000363.5(TNNI3):c.24+5G>C
|
rs2085740818
|
|
|
NM_000363.5(TNNI3):c.245C>T (p.Pro82Leu)
|
rs752503819
|
|
|
NM_000363.5(TNNI3):c.25-3C>A
|
|
|
|
NM_000363.5(TNNI3):c.26C>T (p.Ala9Val)
|
|
|
|
NM_000363.5(TNNI3):c.282+2T>A
|
rs2085728001
|
|
|
NM_000363.5(TNNI3):c.298C>G (p.Leu100Val)
|
|
|
|
NM_000363.5(TNNI3):c.298C>T (p.Leu100Phe)
|
rs773216333
|
|
|
NM_000363.5(TNNI3):c.305C>A (p.Ala102Asp)
|
rs1329760318
|
|
|
NM_000363.5(TNNI3):c.307C>G (p.Arg103Gly)
|
rs397516344
|
|
|
NM_000363.5(TNNI3):c.308G>C (p.Arg103Pro)
|
rs371000425
|
|
|
NM_000363.5(TNNI3):c.308G>T (p.Arg103Leu)
|
rs371000425
|
|
|
NM_000363.5(TNNI3):c.310G>A (p.Val104Met)
|
rs2147283722
|
|
|
NM_000363.5(TNNI3):c.318G>C (p.Lys106Asn)
|
rs750350912
|
|
|
NM_000363.5(TNNI3):c.323A>T (p.Asp108Val)
|
rs1555863719
|
|
|
NM_000363.5(TNNI3):c.332G>T (p.Arg111Ile)
|
rs1599909659
|
|
|
NM_000363.5(TNNI3):c.332_333del (p.Arg111fs)
|
rs1555863715
|
|
|
NM_000363.5(TNNI3):c.337G>A (p.Asp113Asn)
|
rs779064799
|
|
|
NM_000363.5(TNNI3):c.344A>C (p.Glu115Ala)
|
|
|
|
NM_000363.5(TNNI3):c.347C>T (p.Ala116Val)
|
rs777177571
|
|
|
NM_000363.5(TNNI3):c.356C>T (p.Thr119Ile)
|
rs184709702
|
|
|
NM_000363.5(TNNI3):c.368C>A (p.Thr123Lys)
|
|
|
|
NM_000363.5(TNNI3):c.372+1G>A
|
rs111406690
|
|
|
NM_000363.5(TNNI3):c.372+4G>T
|
|
|
|
NM_000363.5(TNNI3):c.373-1G>C
|
|
|
|
NM_000363.5(TNNI3):c.373A>T (p.Ile125Phe)
|
rs1599909309
|
|
|
NM_000363.5(TNNI3):c.374T>C (p.Ile125Thr)
|
rs878853956
|
|
|
NM_000363.5(TNNI3):c.389A>G (p.Gln130Arg)
|
rs1390435424
|
|
|
NM_000363.5(TNNI3):c.389AGA[1] (p.Lys131del)
|
rs1315063739
|
|
|
NM_000363.5(TNNI3):c.391A>G (p.Lys131Glu)
|
rs1599909289
|
|
|
NM_000363.5(TNNI3):c.397T>C (p.Phe133Leu)
|
|
|
|
NM_000363.5(TNNI3):c.3G>A (p.Met1Ile)
|
rs1489475656
|
|
|
NM_000363.5(TNNI3):c.403C>A (p.Leu135Ile)
|
|
|
|
NM_000363.5(TNNI3):c.403C>T (p.Leu135Phe)
|
rs1555863549
|
|
|
NM_000363.5(TNNI3):c.406C>T (p.Arg136Ter)
|
rs1393946566
|
|
|
NM_000363.5(TNNI3):c.407G>C (p.Arg136Pro)
|
|
|
|
NM_000363.5(TNNI3):c.40C>G (p.Pro14Ala)
|
|
|
|
NM_000363.5(TNNI3):c.418A>C (p.Lys140Gln)
|
|
|
|
NM_000363.5(TNNI3):c.421C>G (p.Arg141Gly)
|
rs730881071
|
|
|
NM_000363.5(TNNI3):c.422G>T (p.Arg141Leu)
|
rs397516347
|
|
|
NM_000363.5(TNNI3):c.425C>A (p.Pro142His)
|
|
|
|
NM_000363.5(TNNI3):c.425C>T (p.Pro142Leu)
|
rs2147283285
|
|
|
NM_000363.5(TNNI3):c.428C>T (p.Thr143Ile)
|
|
|
|
NM_000363.5(TNNI3):c.432_437dup (p.Arg145_Arg146dup)
|
rs2085712282
|
|
|
NM_000363.5(TNNI3):c.434G>T (p.Arg145Leu)
|
rs397516349
|
|
|
NM_000363.5(TNNI3):c.449C>A (p.Ser150Tyr)
|
|
|
|
NM_000363.5(TNNI3):c.451G>A (p.Ala151Thr)
|
rs730881072
|
|
|
NM_000363.5(TNNI3):c.458C>A (p.Ala153Asp)
|
rs730881073
|
|
|
NM_000363.5(TNNI3):c.458C>T (p.Ala153Val)
|
rs730881073
|
|
|
NM_000363.5(TNNI3):c.479G>A (p.Gly160Glu)
|
rs2085711894
|
|
|
NM_000363.5(TNNI3):c.481G>C (p.Ala161Pro)
|
|
|
|
NM_000363.5(TNNI3):c.481del (p.Ala161fs)
|
rs1568858158
|
|
|
NM_000363.5(TNNI3):c.485_514del (p.Arg162_Ala171del)
|
rs1555863489
|
|
|
NM_000363.5(TNNI3):c.487G>C (p.Ala163Pro)
|
|
|
|
NM_000363.5(TNNI3):c.487del (p.Ala163fs)
|
rs1599909151
|
|
|
NM_000363.5(TNNI3):c.488C>T (p.Ala163Val)
|
rs727504367
|
|
|
NM_000363.5(TNNI3):c.493G>C (p.Glu165Gln)
|
rs1057521530
|
|
|
NM_000363.5(TNNI3):c.497C>G (p.Ser166Cys)
|
rs727504242
|
|
|
NM_000363.5(TNNI3):c.502G>C (p.Asp168His)
|
rs1085308019
|
|
|
NM_000363.5(TNNI3):c.502G>T (p.Asp168Tyr)
|
|
|
|
NM_000363.5(TNNI3):c.508C>G (p.Arg170Gly)
|
rs727503504
|
|
|
NM_000363.5(TNNI3):c.511G>A (p.Ala171Thr)
|
rs121917761
|
|
|
NM_000363.5(TNNI3):c.512C>T (p.Ala171Val)
|
rs1555863491
|
|
|
NM_000363.5(TNNI3):c.514C>T (p.His172Tyr)
|
rs730881075
|
|
|
NM_000363.5(TNNI3):c.520A>C (p.Lys174Gln)
|
rs1555863480
|
|
|
NM_000363.5(TNNI3):c.523C>A (p.Gln175Lys)
|
rs876661394
|
|
|
NM_000363.5(TNNI3):c.524A>G (p.Gln175Arg)
|
|
|
|
NM_000363.5(TNNI3):c.526G>A (p.Val176Met)
|
rs727503501
|
|
|
NM_000363.5(TNNI3):c.531G>T (p.Lys177Asn)
|
|
|
|
NM_000363.5(TNNI3):c.533A>C (p.Lys178Thr)
|
|
|
|
NM_000363.5(TNNI3):c.533A>G (p.Lys178Arg)
|
rs2085711157
|
|
|
NM_000363.5(TNNI3):c.534GGA[1] (p.Glu179del)
|
|
|
|
NM_000363.5(TNNI3):c.535G>C (p.Glu179Gln)
|
rs2147283173
|
|
|
NM_000363.5(TNNI3):c.536_549+1del
|
rs2085710887
|
|
|
NM_000363.5(TNNI3):c.536del (p.Glu179fs)
|
|
|
|
NM_000363.5(TNNI3):c.538G>A (p.Asp180Asn)
|
rs1060503103
|
|
|
NM_000363.5(TNNI3):c.539A>G (p.Asp180Gly)
|
rs1060499912
|
|
|
NM_000363.5(TNNI3):c.541A>G (p.Thr181Ala)
|
|
|
|
NM_000363.5(TNNI3):c.549+4A>T
|
rs1197428009
|
|
|
NM_000363.5(TNNI3):c.549+5G>A
|
|
|
|
NM_000363.5(TNNI3):c.550-2A>T
|
|
|
|
NM_000363.5(TNNI3):c.550G>C (p.Glu184Gln)
|
rs397516356
|
|
|
NM_000363.5(TNNI3):c.559G>A (p.Glu187Lys)
|
rs727505069
|
|
|
NM_000363.5(TNNI3):c.559_560delinsAG (p.Glu187Arg)
|
rs2085697279
|
|
|
NM_000363.5(TNNI3):c.55A>C (p.Ile19Leu)
|
rs755862334
|
|
|
NM_000363.5(TNNI3):c.562G>A (p.Val188Met)
|
rs193922409
|
|
|
NM_000363.5(TNNI3):c.563_569del (p.Val188fs)
|
rs2085697125
|
|
|
NM_000363.5(TNNI3):c.577A>G (p.Lys193Glu)
|
rs730881080
|
|
|
NM_000363.5(TNNI3):c.578A>G (p.Lys193Arg)
|
|
|
|
NM_000363.5(TNNI3):c.579G>C (p.Lys193Asn)
|
rs397516358
|
|
|
NM_000363.5(TNNI3):c.580A>G (p.Asn194Asp)
|
rs2147281708
|
|
|
NM_000363.5(TNNI3):c.581A>C (p.Asn194Thr)
|
rs730881081
|
|
|
NM_000363.5(TNNI3):c.581A>G (p.Asn194Ser)
|
rs730881081
|
|
|
NM_000363.5(TNNI3):c.583A>C (p.Ile195Leu)
|
rs876658024
|
|
|
NM_000363.5(TNNI3):c.585C>G (p.Ile195Met)
|
rs200085986
|
|
|
NM_000363.5(TNNI3):c.586G>C (p.Asp196His)
|
|
|
|
NM_000363.5(TNNI3):c.586G>T (p.Asp196Tyr)
|
rs104894727
|
|
|
NM_000363.5(TNNI3):c.587A>G (p.Asp196Gly)
|
rs2147281695
|
|
|
NM_000363.5(TNNI3):c.595A>T (p.Ser199Cys)
|
rs2085696801
|
|
|
NM_000363.5(TNNI3):c.597del (p.Ser199fs)
|
|
|
|
NM_000363.5(TNNI3):c.599G>A (p.Gly200Glu)
|
rs878853957
|
|
|
NM_000363.5(TNNI3):c.599G>T (p.Gly200Val)
|
rs878853957
|
|
|
NM_000363.5(TNNI3):c.602T>C (p.Met201Thr)
|
rs727504365
|
|
|
NM_000363.5(TNNI3):c.603G>C (p.Met201Ile)
|
|
|
|
NM_000363.5(TNNI3):c.608G>A (p.Gly203Asp)
|
|
|
|
NM_000363.5(TNNI3):c.60A>C (p.Arg20Ser)
|
|
|
|
NM_000363.5(TNNI3):c.610C>A (p.Arg204Ser)
|
rs727504243
|
|
|
NM_000363.5(TNNI3):c.615G>T (p.Lys205Asn)
|
|
|
|
NM_000363.5(TNNI3):c.61C>A (p.Arg21Ser)
|
rs267607128
|
|
|
NM_000363.5(TNNI3):c.621G>C (p.Lys207Asn)
|
rs2085696421
|
|
|
NM_000363.5(TNNI3):c.625G>A (p.Glu209Lys)
|
rs727504268
|
|
|
NM_000363.5(TNNI3):c.626A>C (p.Glu209Ala)
|
rs730881083
|
|
|
NM_000363.5(TNNI3):c.628A>G (p.Ser210Gly)
|
|
|
|
NM_000363.5(TNNI3):c.64C>G (p.Arg22Gly)
|
rs2085738602
|
|
|
NM_000363.5(TNNI3):c.65G>A (p.Arg22His)
|
rs397516360
|
|
|
NM_000363.5(TNNI3):c.65G>T (p.Arg22Leu)
|
rs397516360
|
|
|
NM_000363.5(TNNI3):c.67T>C (p.Ser23Pro)
|
rs1555864374
|
|
|
NM_000363.5(TNNI3):c.70T>A (p.Ser24Thr)
|
rs2085738488
|
|
|
NM_000363.5(TNNI3):c.74A>C (p.Asn25Thr)
|
rs1555864368
|
|
|
NM_000363.5(TNNI3):c.77A>G (p.Tyr26Cys)
|
rs2147285958
|
|
|
NM_000363.5(TNNI3):c.79C>G (p.Arg27Gly)
|
rs1555864366
|
|
|
NM_000363.5(TNNI3):c.79C>T (p.Arg27Cys)
|
rs1555864366
|
|
|
NM_000363.5(TNNI3):c.7G>T (p.Asp3Tyr)
|
rs2085744165
|
|
|
NM_000363.5(TNNI3):c.80G>A (p.Arg27His)
|
|
|
|
NM_000363.5(TNNI3):c.80G>C (p.Arg27Pro)
|
rs2147285955
|
|
|
NM_000363.5(TNNI3):c.82G>A (p.Ala28Thr)
|
rs2147285950
|
|
|
NM_000363.5(TNNI3):c.83C>T (p.Ala28Val)
|
|
|
|
NM_000363.5(TNNI3):c.86A>G (p.Tyr29Cys)
|
rs2085738286
|
|
|
NM_000363.5(TNNI3):c.88G>A (p.Ala30Thr)
|
rs796104366
|
|
|
NM_000363.5(TNNI3):c.92C>G (p.Thr31Arg)
|
|
|
|
NM_000363.5(TNNI3):c.98C>A (p.Pro33Gln)
|
rs2147285907
|
|
|
NM_000363.5(TNNI3):c.98C>T (p.Pro33Leu)
|
rs2147285907
|
|
|
NM_000363.5(TNNI3):c.98del (p.Pro33fs)
|
|
|
|
NM_000363.5(TNNI3):c.99_100dup (p.His34fs)
|
rs1251941984
|
|
|
NM_000371.4(TTR):c.110T>C (p.Leu37Pro)
|
|
|
|
NM_000371.4(TTR):c.116_117insAGTCCTCGGTCAA (p.Arg41fs)
|
|
|
|
NM_000371.4(TTR):c.11A>T (p.His4Leu)
|
rs1157253322
|
|
|
NM_000371.4(TTR):c.11_13del (p.His4del)
|
rs747545126
|
|
|
NM_000371.4(TTR):c.11_13dup (p.His4dup)
|
rs747545126
|
|
|
NM_000371.4(TTR):c.121C>T (p.Arg41Ter)
|
rs1004021945
|
|
|
NM_000371.4(TTR):c.122G>A (p.Arg41Gln)
|
rs879254269
|
|
|
NM_000371.4(TTR):c.124G>A (p.Gly42Ser)
|
rs2144406621
|
|
|
NM_000371.4(TTR):c.12T>A (p.His4Gln)
|
rs2144405297
|
|
|
NM_000371.4(TTR):c.13C>G (p.Arg5Gly)
|
rs144792001
|
|
|
NM_000371.4(TTR):c.151C>G (p.His51Asp)
|
|
|
|
NM_000371.4(TTR):c.151C>T (p.His51Tyr)
|
|
|
|
NM_000371.4(TTR):c.169G>A (p.Ala57Thr)
|
rs1380447419
|
|
|
NM_000371.4(TTR):c.171TGA[1] (p.Asp59del)
|
rs1555631238
|
|
|
NM_000371.4(TTR):c.184G>A (p.Glu62Lys)
|
|
|
|
NM_000371.4(TTR):c.200+2T>C
|
rs1567945737
|
|
|
NM_000371.4(TTR):c.201-1G>A
|
rs2144409397
|
|
|
NM_000371.4(TTR):c.211G>A (p.Glu71Lys)
|
rs933476040
|
|
|
NM_000371.4(TTR):c.212A>C (p.Glu71Ala)
|
|
|
|
NM_000371.4(TTR):c.242A>G (p.Glu81Gly)
|
rs1567946170
|
|
|
NM_000371.4(TTR):c.270dup (p.Val91fs)
|
|
|
|
NM_000371.4(TTR):c.296G>C (p.Trp99Ser)
|
rs730881171
|
|
|
NM_000371.4(TTR):c.304C>T (p.Leu102Phe)
|
rs1131692003
|
|
|
NM_000371.4(TTR):c.305T>C (p.Leu102Pro)
|
|
|
|
NM_000371.4(TTR):c.316C>G (p.Pro106Ala)
|
|
|
|
NM_000371.4(TTR):c.335A>G (p.Glu112Gly)
|
|
|
|
NM_000371.4(TTR):c.337-3T>G
|
|
|
|
NM_000371.4(TTR):c.337-527_349del
|
rs2073525314
|
|
|
NM_000371.4(TTR):c.339G>A (p.Val113=)
|
|
|
|
NM_000371.4(TTR):c.340G>T (p.Val114Leu)
|
rs2073528142
|
|
|
NM_000371.4(TTR):c.347C>G (p.Thr116Arg)
|
|
|
|
NM_000371.4(TTR):c.34G>T (p.Ala12Ser)
|
rs1567945391
|
|
|
NM_000371.4(TTR):c.35C>A (p.Ala12Asp)
|
rs2073488167
|
|
|
NM_000371.4(TTR):c.35C>T (p.Ala12Val)
|
|
|
|
NM_000371.4(TTR):c.361G>C (p.Gly121Arg)
|
|
|
|
NM_000371.4(TTR):c.365C>G (p.Pro122Arg)
|
rs11541793
|
|
|
NM_000371.4(TTR):c.365C>T (p.Pro122Leu)
|
|
|
|
NM_000371.4(TTR):c.367C>G (p.Arg123Gly)
|
|
|
|
NM_000371.4(TTR):c.373T>C (p.Tyr125His)
|
rs2073528574
|
|
|
NM_000371.4(TTR):c.37G>A (p.Gly13Arg)
|
rs767889884
|
|
|
NM_000371.4(TTR):c.382G>A (p.Ala128Thr)
|
rs2073528679
|
|
|
NM_000371.4(TTR):c.383C>T (p.Ala128Val)
|
|
|
|
NM_000371.4(TTR):c.408T>G (p.Tyr136Ter)
|
|
|
|
NM_000371.4(TTR):c.427A>G (p.Thr143Ala)
|
|
|
|
NM_000371.4(TTR):c.433C>T (p.Pro145Ser)
|
|
|
|
NM_000371.4(TTR):c.434C>A (p.Pro145His)
|
|
|
|
NM_000371.4(TTR):c.62G>C (p.Gly21Ala)
|
rs1469623969
|
|
|
NM_000371.4(TTR):c.65del (p.Pro22fs)
|
|
|
|
NM_000371.4(TTR):c.69+1G>A
|
rs1598843674
|
|
|
NM_000371.4(TTR):c.69+4_69+7del
|
|
|
|
NM_000371.4(TTR):c.69+6T>C
|
|
|
|
NM_000371.4(TTR):c.69G>C (p.Thr23=)
|
rs752579437
|
|
|
NM_000371.4(TTR):c.70-20del
|
|
|
|
NM_000371.4(TTR):c.71G>A (p.Gly24Asp)
|
|
|
|
NM_000371.4(TTR):c.74C>T (p.Thr25Ile)
|
rs2073492897
|
|
|
NM_000371.4(TTR):c.83C>T (p.Ser28Phe)
|
rs1313375879
|
|
|
NM_000371.4(TTR):c.85A>G (p.Lys29Glu)
|
rs1323375123
|
|
|
NM_000371.4(TTR):c.91C>T (p.Pro31Ser)
|
rs2144406521
|
|
|
NM_000371.4(TTR):c.98T>A (p.Met33Lys)
|
|
|
|
NM_000432.4(MYL2):c.101C>A (p.Thr34Asn)
|
|
|
|
NM_000432.4(MYL2):c.103A>G (p.Ile35Val)
|
rs730880946
|
|
|
NM_000432.4(MYL2):c.119G>A (p.Arg40Lys)
|
rs727503299
|
|
|
NM_000432.4(MYL2):c.119G>C (p.Arg40Thr)
|
rs727503299
|
|
|
NM_000432.4(MYL2):c.119G>T (p.Arg40Met)
|
rs727503299
|
|
|
NM_000432.4(MYL2):c.122A>T (p.Asp41Val)
|
|
|
|
NM_000432.4(MYL2):c.133G>A (p.Asp45Asn)
|
rs1363460648
|
|
|
NM_000432.4(MYL2):c.135C>A (p.Asp45Glu)
|
rs199474807
|
|
|
NM_000432.4(MYL2):c.142G>T (p.Asp48Tyr)
|
rs727504405
|
|
|
NM_000432.4(MYL2):c.14A>G (p.Lys5Arg)
|
rs730880941
|
|
|
NM_000432.4(MYL2):c.160G>A (p.Ala54Thr)
|
|
|
|
NM_000432.4(MYL2):c.160G>T (p.Ala54Ser)
|
rs1171745073
|
|
|
NM_000432.4(MYL2):c.161C>T (p.Ala54Val)
|
rs2136773989
|
|
|
NM_000432.4(MYL2):c.166_169+13del
|
|
|
|
NM_000432.4(MYL2):c.169+3A>T
|
|
|
|
NM_000432.4(MYL2):c.169G>A (p.Gly57Arg)
|
rs2428140
|
|
|
NM_000432.4(MYL2):c.172C>G (p.Arg58Gly)
|
|
|
|
NM_000432.4(MYL2):c.172C>T (p.Arg58Ter)
|
rs756671869
|
|
|
NM_000432.4(MYL2):c.175G>A (p.Val59Met)
|
rs2071674789
|
|
|
NM_000432.4(MYL2):c.181G>A (p.Val61Met)
|
rs730880949
|
|
|
NM_000432.4(MYL2):c.181G>C (p.Val61Leu)
|
rs730880949
|
|
|
NM_000432.4(MYL2):c.188del (p.Asn63fs)
|
rs1177936172
|
|
|
NM_000432.4(MYL2):c.193G>A (p.Glu65Lys)
|
rs397516398
|
|
|
NM_000432.4(MYL2):c.197_203del (p.Ile66fs)
|
rs2136772297
|
|
|
NM_000432.4(MYL2):c.19_23del (p.Lys7fs)
|
|
|
|
NM_000432.4(MYL2):c.207G>T (p.Met69Ile)
|
rs866041854
|
|
|
NM_000432.4(MYL2):c.212A>T (p.Lys71Met)
|
rs2136772274
|
|
|
NM_000432.4(MYL2):c.217G>T (p.Ala73Ser)
|
rs2136772254
|
|
|
NM_000432.4(MYL2):c.218C>A (p.Ala73Asp)
|
rs2136772253
|
|
|
NM_000432.4(MYL2):c.220C>T (p.Pro74Ser)
|
rs2136772247
|
|
|
NM_000432.4(MYL2):c.221C>G (p.Pro74Arg)
|
|
|
|
NM_000432.4(MYL2):c.232A>G (p.Asn78Asp)
|
rs2136772211
|
|
|
NM_000432.4(MYL2):c.240del (p.Val81fs)
|
rs2071674087
|
|
|
NM_000432.4(MYL2):c.247C>G (p.Leu83Val)
|
rs2071673990
|
|
|
NM_000432.4(MYL2):c.253A>G (p.Met85Val)
|
rs1592800281
|
|
|
NM_000432.4(MYL2):c.254T>C (p.Met85Thr)
|
rs1592800278
|
|
|
NM_000432.4(MYL2):c.259G>A (p.Gly87Arg)
|
rs2136772130
|
|
|
NM_000432.4(MYL2):c.259G>C (p.Gly87Arg)
|
|
|
|
NM_000432.4(MYL2):c.260G>A (p.Gly87Glu)
|
rs397516399
|
|
|
NM_000432.4(MYL2):c.262G>A (p.Glu88Lys)
|
rs869025484
|
|
|
NM_000432.4(MYL2):c.263A>C (p.Glu88Ala)
|
|
|
|
NM_000432.4(MYL2):c.26G>A (p.Arg9Lys)
|
rs2071704532
|
|
|
NM_000432.4(MYL2):c.274+4A>C
|
|
|
|
NM_000432.4(MYL2):c.274+4A>G
|
rs2136772104
|
|
|
NM_000432.4(MYL2):c.274+6G>T
|
rs776878088
|
|
|
NM_000432.4(MYL2):c.274G>A (p.Gly92Arg)
|
rs1358384301
|
|
|
NM_000432.4(MYL2):c.275-2A>G
|
rs112557362
|
|
|
NM_000432.4(MYL2):c.275-8C>A
|
rs765328765
|
|
|
NM_000432.4(MYL2):c.275G>A (p.Gly92Glu)
|
rs727503297
|
|
|
NM_000432.4(MYL2):c.275G>T (p.Gly92Val)
|
rs727503297
|
|
|
NM_000432.4(MYL2):c.277G>C (p.Ala93Pro)
|
|
|
|
NM_000432.4(MYL2):c.283C>T (p.Pro95Ser)
|
rs121913658
|
|
|
NM_000432.4(MYL2):c.284C>T (p.Pro95Leu)
|
|
|
|
NM_000432.4(MYL2):c.289G>A (p.Glu97Lys)
|
rs1555257777
|
|
|
NM_000432.4(MYL2):c.28G>C (p.Ala10Pro)
|
rs730880942
|
|
|
NM_000432.4(MYL2):c.290A>T (p.Glu97Val)
|
rs2136770896
|
|
|
NM_000432.4(MYL2):c.295A>G (p.Ile99Val)
|
rs2136770879
|
|
|
NM_000432.4(MYL2):c.299_309del (p.Leu100fs)
|
rs2071666850
|
|
|
NM_000432.4(MYL2):c.3+13G>T
|
rs2136779321
|
|
|
NM_000432.4(MYL2):c.3+1G>T
|
rs730880948
|
|
|
NM_000432.4(MYL2):c.3+2T>C
|
rs111373423
|
|
|
NM_000432.4(MYL2):c.3+5G>C
|
|
|
|
NM_000432.4(MYL2):c.302A>G (p.Asn101Ser)
|
rs886048960
|
|
|
NM_000432.4(MYL2):c.304G>A (p.Ala102Thr)
|
rs369868176
|
|
|
NM_000432.4(MYL2):c.304G>T (p.Ala102Ser)
|
rs369868176
|
|
|
NM_000432.4(MYL2):c.305C>T (p.Ala102Val)
|
rs2071666913
|
|
|
NM_000432.4(MYL2):c.310A>G (p.Lys104Glu)
|
rs199474811
|
|
|
NM_000432.4(MYL2):c.313G>A (p.Val105Met)
|
rs397516401
|
|
|
NM_000432.4(MYL2):c.316_319del (p.Phe106fs)
|
rs2071666714
|
|
|
NM_000432.4(MYL2):c.322C>T (p.Pro108Ser)
|
rs1555257773
|
|
|
NM_000432.4(MYL2):c.325G>T (p.Glu109Ter)
|
rs2136770789
|
|
|
NM_000432.4(MYL2):c.337G>T (p.Val113Leu)
|
|
|
|
NM_000432.4(MYL2):c.341_348dup (p.Asp117Ter)
|
|
|
|
NM_000432.4(MYL2):c.347C>T (p.Ala116Val)
|
rs1566148270
|
|
|
NM_000432.4(MYL2):c.34G>A (p.Gly12Ser)
|
rs730880937
|
|
|
NM_000432.4(MYL2):c.352dup (p.Tyr118fs)
|
rs2136770744
|
|
|
NM_000432.4(MYL2):c.353+4A>C
|
rs757267554
|
|
|
NM_000432.4(MYL2):c.353+6T>A
|
rs372824804
|
|
|
NM_000432.4(MYL2):c.354-3C>G
|
rs758158083
|
|
|
NM_000432.4(MYL2):c.356T>A (p.Val119Asp)
|
rs2136770460
|
|
|
NM_000432.4(MYL2):c.358C>T (p.Arg120Trp)
|
rs397516404
|
|
|
NM_000432.4(MYL2):c.35G>A (p.Gly12Asp)
|
rs762584624
|
|
|
NM_000432.4(MYL2):c.374C>A (p.Thr125Lys)
|
rs375667565
|
|
|
NM_000432.4(MYL2):c.376C>G (p.Gln126Glu)
|
rs1064796377
|
|
|
NM_000432.4(MYL2):c.389T>A (p.Phe130Tyr)
|
|
|
|
NM_000432.4(MYL2):c.391T>A (p.Ser131Thr)
|
|
|
|
NM_000432.4(MYL2):c.394A>C (p.Lys132Gln)
|
rs1387580638
|
|
|
NM_000432.4(MYL2):c.400G>T (p.Glu134Ter)
|
rs2136770365
|
|
|
NM_000432.4(MYL2):c.402+1G>T
|
rs1555257746
|
|
|
NM_000432.4(MYL2):c.403-3C>A
|
|
|
|
NM_000432.4(MYL2):c.403G>T (p.Val135Phe)
|
|
|
|
NM_000432.4(MYL2):c.409C>T (p.Gln137Ter)
|
|
|
|
NM_000432.4(MYL2):c.419C>T (p.Ala140Val)
|
|
|
|
NM_000432.4(MYL2):c.41A>T (p.Asn14Ile)
|
|
|
|
NM_000432.4(MYL2):c.421G>A (p.Ala141Thr)
|
rs727504559
|
|
|
NM_000432.4(MYL2):c.424T>A (p.Phe142Ile)
|
|
|
|
NM_000432.4(MYL2):c.424T>C (p.Phe142Leu)
|
rs747192296
|
|
|
NM_000432.4(MYL2):c.425T>C (p.Phe142Ser)
|
rs1414230972
|
|
|
NM_000432.4(MYL2):c.426C>A (p.Phe142Leu)
|
|
|
|
NM_000432.4(MYL2):c.42C>A (p.Asn14Lys)
|
rs878853980
|
|
|
NM_000432.4(MYL2):c.430C>A (p.Pro144Thr)
|
rs777689913
|
|
|
NM_000432.4(MYL2):c.430C>T (p.Pro144Ser)
|
rs777689913
|
|
|
NM_000432.4(MYL2):c.431C>A (p.Pro144His)
|
rs755993281
|
|
|
NM_000432.4(MYL2):c.431C>T (p.Pro144Leu)
|
|
|
|
NM_000432.4(MYL2):c.431del (p.Pro144fs)
|
rs786205430
|
|
|
NM_000432.4(MYL2):c.432del (p.Asp145fs)
|
rs2071649414
|
|
|
NM_000432.4(MYL2):c.434A>G (p.Asp145Gly)
|
rs1255677666
|
|
|
NM_000432.4(MYL2):c.436G>C (p.Val146Leu)
|
|
|
|
NM_000432.4(MYL2):c.454T>G (p.Tyr152Asp)
|
rs766036025
|
|
|
NM_000432.4(MYL2):c.46A>G (p.Asn16Asp)
|
rs2136777385
|
|
|
NM_000432.4(MYL2):c.470A>G (p.His157Arg)
|
rs730880951
|
|
|
NM_000432.4(MYL2):c.473TCA[3] (p.Ile159dup)
|
rs1566147363
|
|
|
NM_000432.4(MYL2):c.475A>G (p.Ile159Val)
|
rs747098269
|
|
|
NM_000432.4(MYL2):c.476T>C (p.Ile159Thr)
|
|
|
|
NM_000432.4(MYL2):c.479C>G (p.Thr160Ser)
|
rs2071647980
|
|
|
NM_000432.4(MYL2):c.47A>G (p.Asn16Ser)
|
rs2071704153
|
|
|
NM_000432.4(MYL2):c.483C>A (p.His161Gln)
|
rs886039108
|
|
|
NM_000432.4(MYL2):c.484G>T (p.Gly162Ter)
|
rs199474814
|
|
|
NM_000432.4(MYL2):c.487G>A (p.Glu163Lys)
|
rs1131692323
|
|
|
NM_000432.4(MYL2):c.488A>G (p.Glu163Gly)
|
rs397516407
|
|
|
NM_000432.4(MYL2):c.490G>A (p.Glu164Lys)
|
|
|
|
NM_000432.4(MYL2):c.493A>G (p.Lys165Glu)
|
|
|
|
NM_000432.4(MYL2):c.496G>A (p.Asp166Asn)
|
rs730880952
|
|
|
NM_000432.4(MYL2):c.496G>C (p.Asp166His)
|
rs730880952
|
|
|
NM_000432.4(MYL2):c.497A>C (p.Asp166Ala)
|
rs199474815
|
|
|
NM_000432.4(MYL2):c.499T>G (p.Ter167Glu)
|
rs2071647433
|
|
|
NM_000432.4(MYL2):c.4G>A (p.Ala2Thr)
|
rs1060499882
|
|
|
NM_000432.4(MYL2):c.50T>C (p.Val17Ala)
|
rs2136777356
|
|
|
NM_000432.4(MYL2):c.50del (p.Val17fs)
|
|
|
|
NM_000432.4(MYL2):c.51_61del (p.Phe18fs)
|
rs754744244
|
|
|
NM_000432.4(MYL2):c.53T>C (p.Phe18Ser)
|
rs730880944
|
|
|
NM_000432.4(MYL2):c.56C>G (p.Ser19Cys)
|
rs2071704028
|
|
|
NM_000432.4(MYL2):c.58A>G (p.Met20Val)
|
rs199474816
|
|
|
NM_000432.4(MYL2):c.59T>A (p.Met20Lys)
|
rs113167834
|
|
|
NM_000432.4(MYL2):c.62T>C (p.Phe21Ser)
|
|
|
|
NM_000432.4(MYL2):c.6del (p.Pro3fs)
|
rs1085307533
|
|
|
NM_000432.4(MYL2):c.71C>T (p.Thr24Ile)
|
rs2136777298
|
|
|
NM_000432.4(MYL2):c.7C>T (p.Pro3Ser)
|
|
|
|
NM_000432.4(MYL2):c.80A>G (p.Gln27Arg)
|
rs397516408
|
|
|
NM_000432.4(MYL2):c.83A>G (p.Glu28Gly)
|
rs2071703750
|
|
|
NM_000432.4(MYL2):c.84A>C (p.Glu28Asp)
|
|
|
|
NM_000432.4(MYL2):c.92A>G (p.Glu31Gly)
|
rs2136777256
|
|
|
NM_000432.4(MYL2):c.93+11C>G
|
rs1217072106
|
|
|
NM_000432.4(MYL2):c.93+1G>A
|
rs2071703627
|
|
|
NM_000432.4(MYL2):c.93+4G>A
|
rs1452586267
|
|
|
NM_000432.4(MYL2):c.94-1G>C
|
|
|
|
NM_000432.4(MYL2):c.94-3C>T
|
rs112865045
|
|
|
NM_000475.5(NR0B1):c.1022A>G (p.His341Arg)
|
|
|
|
NM_000475.5(NR0B1):c.1103G>T (p.Cys368Phe)
|
|
|
|
NM_000475.5(NR0B1):c.1157T>G (p.Leu386Arg)
|
|
|
|
NM_000475.5(NR0B1):c.1354A>G (p.Ile452Val)
|
|
|
|
NM_000475.5(NR0B1):c.194G>T (p.Arg65Leu)
|
rs1926600775
|
|
|
NM_000475.5(NR0B1):c.227A>G (p.Gln76Arg)
|
|
|
|
NM_000475.5(NR0B1):c.229G>C (p.Gly77Arg)
|
|
|
|
NM_000475.5(NR0B1):c.308C>G (p.Pro103Arg)
|
|
|
|
NM_000475.5(NR0B1):c.389A>G (p.Tyr130Cys)
|
|
|
|
NM_000475.5(NR0B1):c.395G>A (p.Cys132Tyr)
|
|
|
|
NM_000475.5(NR0B1):c.447G>C (p.Leu149Phe)
|
|
|
|
NM_000475.5(NR0B1):c.521G>C (p.Arg174Pro)
|
|
|
|
NM_000475.5(NR0B1):c.536A>T (p.Gln179Leu)
|
|
|
|
NM_000475.5(NR0B1):c.563C>T (p.Pro188Leu)
|
|
|
|
NM_000475.5(NR0B1):c.568G>C (p.Gly190Arg)
|
|
|
|
NM_000475.5(NR0B1):c.607G>A (p.Gly203Ser)
|
|
|
|
NM_000475.5(NR0B1):c.667G>A (p.Ala223Thr)
|
|
|
|
NM_000475.5(NR0B1):c.698C>T (p.Ala233Val)
|
|
|
|
NM_000475.5(NR0B1):c.740C>A (p.Ala247Glu)
|
|
|
|
NM_000475.5(NR0B1):c.785T>G (p.Leu262Arg)
|
rs1926571373
|
|
|
NM_000475.5(NR0B1):c.806T>G (p.Val269Gly)
|
rs1555973045
|
|
|
NM_000475.5(NR0B1):c.890T>C (p.Leu297Pro)
|
rs104894907
|
|
|
NM_000475.5(NR0B1):c.899C>T (p.Ala300Val)
|
|
|
|
NM_000475.5(NR0B1):c.8_9delinsAA (p.Gly3Glu)
|
|
|
|
NM_000475.5(NR0B1):c.981G>C (p.Glu327Asp)
|
|
|
|
NM_000475.5(NR0B1):c.989G>A (p.Gly330Asp)
|
|
|
|
NM_001005242.3(PKP2):c.-9_12dup (p.Pro4_Gly5insThrGlyProMetAlaAlaPro)
|
rs770443705
|
|
|
NM_001005242.3(PKP2):c.1019C>T (p.Thr340Ile)
|
rs1592762999
|
|
|
NM_001005242.3(PKP2):c.101C>G (p.Ser34Cys)
|
rs1957128054
|
|
|
NM_001005242.3(PKP2):c.1033G>A (p.Gly345Arg)
|
rs1592762989
|
|
|
NM_001005242.3(PKP2):c.1034+4del
|
rs397516983
|
|
|
NM_001005242.3(PKP2):c.1034G>A (p.Gly345Glu)
|
|
|
|
NM_001005242.3(PKP2):c.1039G>A (p.Ala347Thr)
|
rs1164976319
|
|
|
NM_001005242.3(PKP2):c.1046T>G (p.Met349Arg)
|
|
|
|
NM_001005242.3(PKP2):c.1048G>A (p.Glu350Lys)
|
rs147264025
|
|
|
NM_001005242.3(PKP2):c.1058T>C (p.Leu353Pro)
|
rs1956875248
|
|
|
NM_001005242.3(PKP2):c.1066G>C (p.Ala356Pro)
|
rs1956875094
|
|
|
NM_001005242.3(PKP2):c.1073G>A (p.Ser358Asn)
|
rs1215591759
|
|
|
NM_001005242.3(PKP2):c.1075A>G (p.Met359Val)
|
rs1336886985
|
|
|
NM_001005242.3(PKP2):c.107C>T (p.Ala36Val)
|
|
|
|
NM_001005242.3(PKP2):c.1081G>A (p.Glu361Lys)
|
|
|
|
NM_001005242.3(PKP2):c.1090C>T (p.His364Tyr)
|
rs2137919820
|
|
|
NM_001005242.3(PKP2):c.10C>A (p.Pro4Thr)
|
|
|
|
NM_001005242.3(PKP2):c.1114G>A (p.Ala372Thr)
|
rs200586695
|
|
|
NM_001005242.3(PKP2):c.1117G>A (p.Ala373Thr)
|
rs2137919581
|
|
|
NM_001005242.3(PKP2):c.1120G>T (p.Ala374Ser)
|
|
|
|
NM_001005242.3(PKP2):c.1123A>T (p.Thr375Ser)
|
rs2137919547
|
|
|
NM_001005242.3(PKP2):c.1126_1131dup (p.Ile377_Gln378insPheIle)
|
|
|
|
NM_001005242.3(PKP2):c.1133A>G (p.Gln378Arg)
|
rs1956873618
|
|
|
NM_001005242.3(PKP2):c.1133A>T (p.Gln378Leu)
|
rs1956873618
|
|
|
NM_001005242.3(PKP2):c.1139A>C (p.Glu380Ala)
|
|
|
|
NM_001005242.3(PKP2):c.1140G>T (p.Glu380Asp)
|
|
|
|
NM_001005242.3(PKP2):c.1163G>C (p.Arg388Pro)
|
rs756000218
|
|
|
NM_001005242.3(PKP2):c.1170+3G>A
|
rs1956872807
|
|
|
NM_001005242.3(PKP2):c.1170+3G>C
|
|
|
|
NM_001005242.3(PKP2):c.1170+4_1170+5del
|
rs2137919094
|
|
|
NM_001005242.3(PKP2):c.1170+4_1170+7del
|
rs397516988
|
|
|
NM_001005242.3(PKP2):c.1170+5G>A
|
rs794729105
|
|
|
NM_001005242.3(PKP2):c.1170+5G>T
|
rs794729105
|
|
|
NM_001005242.3(PKP2):c.1177C>A (p.Gln393Lys)
|
|
|
|
NM_001005242.3(PKP2):c.1184G>A (p.Arg395His)
|
rs773611613
|
|
|
NM_001005242.3(PKP2):c.1189A>T (p.Ile397Phe)
|
|
|
|
NM_001005242.3(PKP2):c.118C>G (p.Leu40Val)
|
rs1039022167
|
|
|
NM_001005242.3(PKP2):c.1231G>T (p.Val411Phe)
|
rs192041220
|
|
|
NM_001005242.3(PKP2):c.1237C>G (p.Arg413Gly)
|
|
|
|
NM_001005242.3(PKP2):c.1244T>G (p.Val415Gly)
|
rs1335415987
|
|
|
NM_001005242.3(PKP2):c.1256T>C (p.Leu419Ser)
|
rs1265030036
|
|
|
NM_001005242.3(PKP2):c.125G>A (p.Gly42Glu)
|
|
|
|
NM_001005242.3(PKP2):c.1286A>G (p.Asn429Ser)
|
rs2137862708
|
|
|
NM_001005242.3(PKP2):c.1294G>C (p.Glu432Gln)
|
rs1956689490
|
|
|
NM_001005242.3(PKP2):c.1297G>A (p.Val433Met)
|
|
|
|
NM_001005242.3(PKP2):c.130_131delinsCC (p.Ser44Pro)
|
|
|
|
NM_001005242.3(PKP2):c.131G>A (p.Ser44Asn)
|
|
|
|
NM_001005242.3(PKP2):c.1332G>C (p.Gln444His)
|
|
|
|
NM_001005242.3(PKP2):c.1345A>G (p.Thr449Ala)
|
rs2137862264
|
|
|
NM_001005242.3(PKP2):c.1361C>T (p.Thr454Ile)
|
rs2137862174
|
|
|
NM_001005242.3(PKP2):c.1366A>C (p.Lys456Gln)
|
rs1555145493
|
|
|
NM_001005242.3(PKP2):c.1367A>G (p.Lys456Arg)
|
rs750897570
|
|
|
NM_001005242.3(PKP2):c.1369C>A (p.Gln457Lys)
|
rs1956688410
|
|
|
NM_001005242.3(PKP2):c.1373T>A (p.Ile458Lys)
|
rs1036553117
|
|
|
NM_001005242.3(PKP2):c.1377A>G (p.Thr459=)
|
rs1565590176
|
|
|
NM_001005242.3(PKP2):c.1378+5T>C
|
rs767415624
|
|
|
NM_001005242.3(PKP2):c.1379-1980C>G
|
|
|
|
NM_001005242.3(PKP2):c.1379-1984C>G
|
rs759017992
|
|
|
NM_001005242.3(PKP2):c.1379-1986G>T
|
rs1956614139
|
|
|
NM_001005242.3(PKP2):c.1379-1989C>T
|
|
|
|
NM_001005242.3(PKP2):c.1379-1990G>T
|
|
|
|
NM_001005242.3(PKP2):c.1379-1994A>G
|
|
|
|
NM_001005242.3(PKP2):c.1379-2004G>A
|
|
|
|
NM_001005242.3(PKP2):c.1379-2010A>G
|
rs1382350974
|
|
|
NM_001005242.3(PKP2):c.1379-2010A>T
|
|
|
|
NM_001005242.3(PKP2):c.1379-2021G>T
|
rs2137837919
|
|
|
NM_001005242.3(PKP2):c.1379-2027A>G
|
rs778247181
|
|
|
NM_001005242.3(PKP2):c.1379-2039C>T
|
rs1257306156
|
|
|
NM_001005242.3(PKP2):c.1379-2040A>G
|
|
|
|
NM_001005242.3(PKP2):c.1379-2043A>G
|
rs1188858368
|
|
|
NM_001005242.3(PKP2):c.1379-2045C>T
|
rs557373206
|
|
|
NM_001005242.3(PKP2):c.1379-2056C>G
|
|
|
|
NM_001005242.3(PKP2):c.1379-2058C>T
|
|
|
|
NM_001005242.3(PKP2):c.1379-2060C>G
|
rs1565587911
|
|
|
NM_001005242.3(PKP2):c.1379-2081A>G
|
rs2137838328
|
|
|
NM_001005242.3(PKP2):c.1379-2088A>G
|
rs2137838364
|
|
|
NM_001005242.3(PKP2):c.1379-2105A>G
|
rs376606525
|
|
|
NM_001005242.3(PKP2):c.1379G>A (p.Gly460Asp)
|
rs755399089
|
|
|
NM_001005242.3(PKP2):c.1385T>C (p.Leu462Pro)
|
|
|
|
NM_001005242.3(PKP2):c.1390A>C (p.Asn464His)
|
|
|
|
NM_001005242.3(PKP2):c.139GGC[3] (p.Gly48dup)
|
rs944330366
|
|
|
NM_001005242.3(PKP2):c.1400C>T (p.Ser467Phe)
|
rs1287872807
|
|
|
NM_001005242.3(PKP2):c.1409A>G (p.Lys470Arg)
|
|
|
|
NM_001005242.3(PKP2):c.1411C>G (p.Leu471Val)
|
rs878854708
|
|
|
NM_001005242.3(PKP2):c.1415A>G (p.Lys472Arg)
|
rs749926313
|
|
|
NM_001005242.3(PKP2):c.1423A>C (p.Met475Leu)
|
|
|
|
NM_001005242.3(PKP2):c.1427T>A (p.Ile476Lys)
|
rs762789806
|
|
|
NM_001005242.3(PKP2):c.1432G>A (p.Glu478Lys)
|
rs1956588010
|
|
|
NM_001005242.3(PKP2):c.1435G>T (p.Ala479Ser)
|
rs766622938
|
|
|
NM_001005242.3(PKP2):c.1442T>G (p.Leu481Arg)
|
rs397516998
|
|
|
NM_001005242.3(PKP2):c.1448T>G (p.Leu483Arg)
|
rs397517000
|
|
|
NM_001005242.3(PKP2):c.1465A>G (p.Ile489Val)
|
rs1956587369
|
|
|
NM_001005242.3(PKP2):c.1478G>T (p.Gly493Val)
|
|
|
|
NM_001005242.3(PKP2):c.1489G>A (p.Gly497Arg)
|
rs2137830279
|
|
|
NM_001005242.3(PKP2):c.1493_1498del (p.Asp498_Pro500delinsAla)
|
|
|
|
NM_001005242.3(PKP2):c.1511G>T (p.Gly504Val)
|
rs1592746320
|
|
|
NM_001005242.3(PKP2):c.1538A>G (p.Asn513Ser)
|
rs2137829917
|
|
|
NM_001005242.3(PKP2):c.1544C>T (p.Thr515Ile)
|
|
|
|
NM_001005242.3(PKP2):c.1565G>T (p.Ser522Ile)
|
rs1478657141
|
|
|
NM_001005242.3(PKP2):c.156G>C (p.Lys52Asn)
|
rs201210997
|
|
|
NM_001005242.3(PKP2):c.1573G>A (p.Gly525Ser)
|
rs1956410714
|
|
|
NM_001005242.3(PKP2):c.1586G>A (p.Arg529Lys)
|
rs1555143136
|
|
|
NM_001005242.3(PKP2):c.1592C>T (p.Ala531Val)
|
|
|
|
NM_001005242.3(PKP2):c.1594A>T (p.Met532Leu)
|
rs1298544159
|
|
|
NM_001005242.3(PKP2):c.1597AGA[1] (p.Arg534del)
|
rs1956409943
|
|
|
NM_001005242.3(PKP2):c.159C>A (p.Ser53Arg)
|
rs770694213
|
|
|
NM_001005242.3(PKP2):c.1609G>A (p.Gly537Arg)
|
|
|
|
NM_001005242.3(PKP2):c.1612C>T (p.Leu538Phe)
|
rs794729134
|
|
|
NM_001005242.3(PKP2):c.1613T>C (p.Leu538Pro)
|
rs1565581687
|
|
|
NM_001005242.3(PKP2):c.1616T>C (p.Ile539Thr)
|
rs1956409566
|
|
|
NM_001005242.3(PKP2):c.1631A>G (p.His544Arg)
|
rs1956409116
|
|
|
NM_001005242.3(PKP2):c.1636G>A (p.Val546Ile)
|
rs1475361697
|
|
|
NM_001005242.3(PKP2):c.163C>T (p.Arg55Trp)
|
|
|
|
NM_001005242.3(PKP2):c.1649T>A (p.Ile550Asn)
|
rs1592738583
|
|
|
NM_001005242.3(PKP2):c.1649T>C (p.Ile550Thr)
|
|
|
|
NM_001005242.3(PKP2):c.1663C>A (p.Pro555Thr)
|
rs771808028
|
|
|
NM_001005242.3(PKP2):c.1675G>A (p.Ala559Thr)
|
rs2137778289
|
|
|
NM_001005242.3(PKP2):c.1690G>A (p.Val564Met)
|
rs1565581029
|
|
|
NM_001005242.3(PKP2):c.1708C>A (p.Leu570Ile)
|
rs1956392355
|
|
|
NM_001005242.3(PKP2):c.1709T>C (p.Leu570Pro)
|
|
|
|
NM_001005242.3(PKP2):c.1714T>C (p.Tyr572His)
|
|
|
|
NM_001005242.3(PKP2):c.1726G>A (p.Ala576Thr)
|
|
|
|
NM_001005242.3(PKP2):c.1727C>A (p.Ala576Glu)
|
rs2137777851
|
|
|
NM_001005242.3(PKP2):c.1729G>A (p.Glu577Lys)
|
|
|
|
NM_001005242.3(PKP2):c.1732C>T (p.Leu578Phe)
|
|
|
|
NM_001005242.3(PKP2):c.173A>G (p.Glu58Gly)
|
|
|
|
NM_001005242.3(PKP2):c.1744T>A (p.Tyr582Asn)
|
rs794729112
|
|
|
NM_001005242.3(PKP2):c.1748C>T (p.Ser583Phe)
|
rs769817013
|
|
|
NM_001005242.3(PKP2):c.1756A>G (p.Ile586Val)
|
|
|
|
NM_001005242.3(PKP2):c.175C>G (p.Gln59Glu)
|
rs1957126844
|
|
|
NM_001005242.3(PKP2):c.1771C>T (p.Arg591Trp)
|
rs778928536
|
|
|
NM_001005242.3(PKP2):c.1782G>T (p.Gln594His)
|
|
|
|
NM_001005242.3(PKP2):c.1788CAA[2] (p.Asn598del)
|
rs750084387
|
|
|
NM_001005242.3(PKP2):c.1804G>A (p.Gly602Arg)
|
rs960192135
|
|
|
NM_001005242.3(PKP2):c.182A>G (p.Gln61Arg)
|
|
|
|
NM_001005242.3(PKP2):c.1831G>T (p.Val611Leu)
|
rs1003410304
|
|
|
NM_001005242.3(PKP2):c.1839+6T>C
|
rs985611212
|
|
|
NM_001005242.3(PKP2):c.1839+6T>G
|
|
|
|
NM_001005242.3(PKP2):c.1840-10G>A
|
rs768000598
|
|
|
NM_001005242.3(PKP2):c.1852G>A (p.Val618Met)
|
rs770909247
|
|
|
NM_001005242.3(PKP2):c.1856C>A (p.Pro619Gln)
|
|
|
|
NM_001005242.3(PKP2):c.1856C>T (p.Pro619Leu)
|
rs1056066633
|
|
|
NM_001005242.3(PKP2):c.1862C>G (p.Pro621Arg)
|
rs773061639
|
|
|
NM_001005242.3(PKP2):c.1870A>G (p.Lys624Glu)
|
|
|
|
NM_001005242.3(PKP2):c.1876A>G (p.Asn626Asp)
|
rs2137773947
|
|
|
NM_001005242.3(PKP2):c.1878C>A (p.Asn626Lys)
|
rs769943903
|
|
|
NM_001005242.3(PKP2):c.1879C>T (p.Pro627Ser)
|
rs1956377569
|
|
|
NM_001005242.3(PKP2):c.1882A>G (p.Lys628Glu)
|
|
|
|
NM_001005242.3(PKP2):c.1893G>T (p.Glu631Asp)
|
rs879110663
|
|
|
NM_001005242.3(PKP2):c.1912G>T (p.Val638Phe)
|
rs2137773553
|
|
|
NM_001005242.3(PKP2):c.1925A>G (p.Tyr642Cys)
|
rs1291783957
|
|
|
NM_001005242.3(PKP2):c.1942A>G (p.Lys648Glu)
|
|
|
|
NM_001005242.3(PKP2):c.1961C>A (p.Thr654Lys)
|
rs1592737188
|
|
|
NM_001005242.3(PKP2):c.1981G>A (p.Ala661Thr)
|
rs1199864691
|
|
|
NM_001005242.3(PKP2):c.1993C>T (p.Leu665Phe)
|
rs397517018
|
|
|
NM_001005242.3(PKP2):c.1997C>T (p.Thr666Met)
|
rs397517016
|
|
|
NM_001005242.3(PKP2):c.199A>C (p.Lys67Gln)
|
|
|
|
NM_001005242.3(PKP2):c.199A>G (p.Lys67Glu)
|
rs1555149950
|
|
|
NM_001005242.3(PKP2):c.2003G>A (p.Gly668Glu)
|
rs1348373466
|
|
|
NM_001005242.3(PKP2):c.2003G>C (p.Gly668Ala)
|
rs1348373466
|
|
|
NM_001005242.3(PKP2):c.2006G>A (p.Ser669Asn)
|
|
|
|
NM_001005242.3(PKP2):c.2008G>A (p.Gly670Arg)
|
|
|
|
NM_001005242.3(PKP2):c.200A>G (p.Lys67Arg)
|
rs1957126196
|
|
|
NM_001005242.3(PKP2):c.2013+5G>A
|
|
|
|
NM_001005242.3(PKP2):c.2013+6T>A
|
rs1592737126
|
|
|
NM_001005242.3(PKP2):c.2013A>G (p.Pro671=)
|
rs1956373944
|
|
|
NM_001005242.3(PKP2):c.2014-3C>T
|
rs2137725939
|
|
|
NM_001005242.3(PKP2):c.2014A>T (p.Met672Leu)
|
|
|
|
NM_001005242.3(PKP2):c.201G>A (p.Lys67=)
|
rs1957126171
|
|
|
NM_001005242.3(PKP2):c.2036C>T (p.Thr679Ile)
|
|
|
|
NM_001005242.3(PKP2):c.2042T>A (p.Val681Asp)
|
rs1227501219
|
|
|
NM_001005242.3(PKP2):c.206G>T (p.Arg69Leu)
|
rs1388260138
|
|
|
NM_001005242.3(PKP2):c.2077A>G (p.Met693Val)
|
|
|
|
NM_001005242.3(PKP2):c.2083C>T (p.His695Tyr)
|
|
|
|
NM_001005242.3(PKP2):c.2086G>A (p.Val696Ile)
|
rs1956191269
|
|
|
NM_001005242.3(PKP2):c.2087T>A (p.Val696Asp)
|
|
|
|
NM_001005242.3(PKP2):c.2089G>C (p.Gly697Arg)
|
rs2137725489
|
|
|
NM_001005242.3(PKP2):c.208A>G (p.Ser70Gly)
|
|
|
|
NM_001005242.3(PKP2):c.2097_2099dup (p.Pro699_Ser700insArg)
|
rs1324822103
|
|
|
NM_001005242.3(PKP2):c.2098A>G (p.Ser700Gly)
|
|
|
|
NM_001005242.3(PKP2):c.2101G>T (p.Val701Leu)
|
rs757159896
|
|
|
NM_001005242.3(PKP2):c.2113_2114delinsAT (p.Ala705Ile)
|
rs1565574704
|
|
|
NM_001005242.3(PKP2):c.2119T>C (p.Ser707Pro)
|
rs1592729555
|
|
|
NM_001005242.3(PKP2):c.2126T>A (p.Leu709Gln)
|
|
|
|
NM_001005242.3(PKP2):c.212C>G (p.Ser71Cys)
|
|
|
|
NM_001005242.3(PKP2):c.2138C>A (p.Ser713Tyr)
|
rs1956190526
|
|
|
NM_001005242.3(PKP2):c.214G>T (p.Val72Leu)
|
rs397517019
|
|
|
NM_001005242.3(PKP2):c.2153T>G (p.Leu718Arg)
|
|
|
|
NM_001005242.3(PKP2):c.2166T>C (p.Ile722=)
|
|
|
|
NM_001005242.3(PKP2):c.2166T>G (p.Ile722Met)
|
rs1442934924
|
|
|
NM_001005242.3(PKP2):c.2167+11A>G
|
rs551378645
|
|
|
NM_001005242.3(PKP2):c.2167+3G>T
|
rs2137725110
|
|
|
NM_001005242.3(PKP2):c.2171A>G (p.Lys724Arg)
|
|
|
|
NM_001005242.3(PKP2):c.2175A>T (p.Glu725Asp)
|
|
|
|
NM_001005242.3(PKP2):c.2177C>T (p.Thr726Ile)
|
rs2137708917
|
|
|
NM_001005242.3(PKP2):c.2186A>C (p.Asp729Ala)
|
rs1956123004
|
|
|
NM_001005242.3(PKP2):c.218G>C (p.Gly73Ala)
|
|
|
|
NM_001005242.3(PKP2):c.2193_2198del (p.Ser732_Ile733del)
|
|
|
|
NM_001005242.3(PKP2):c.2195C>T (p.Ser732Phe)
|
|
|
|
NM_001005242.3(PKP2):c.2197A>G (p.Ile733Val)
|
rs749907181
|
|
|
NM_001005242.3(PKP2):c.2203C>G (p.Pro735Ala)
|
|
|
|
NM_001005242.3(PKP2):c.2221A>G (p.Thr741Ala)
|
|
|
|
NM_001005242.3(PKP2):c.2222C>T (p.Thr741Ile)
|
|
|
|
NM_001005242.3(PKP2):c.2228T>G (p.Leu743Arg)
|
rs145553222
|
|
|
NM_001005242.3(PKP2):c.223+6T>G
|
rs755600420
|
|
|
NM_001005242.3(PKP2):c.2234T>A (p.Ile745Asn)
|
rs543233804
|
|
|
NM_001005242.3(PKP2):c.2236G>A (p.Glu746Lys)
|
rs2137708520
|
|
|
NM_001005242.3(PKP2):c.224-3C>A
|
|
|
|
NM_001005242.3(PKP2):c.224-3C>G
|
rs786204387
|
|
|
NM_001005242.3(PKP2):c.2251G>A (p.Ala751Thr)
|
|
|
|
NM_001005242.3(PKP2):c.2251G>C (p.Ala751Pro)
|
|
|
|
NM_001005242.3(PKP2):c.2251G>T (p.Ala751Ser)
|
|
|
|
NM_001005242.3(PKP2):c.2261_2269del (p.Thr754_Asn756del)
|
rs1270283587
|
|
|
NM_001005242.3(PKP2):c.2272A>G (p.Ile758Val)
|
rs1956121104
|
|
|
NM_001005242.3(PKP2):c.2273T>C (p.Ile758Thr)
|
|
|
|
NM_001005242.3(PKP2):c.2277C>G (p.Ile759Met)
|
rs1956120923
|
|
|
NM_001005242.3(PKP2):c.2288A>T (p.Tyr763Phe)
|
rs2137708194
|
|
|
NM_001005242.3(PKP2):c.2292G>C (p.Gln764His)
|
|
|
|
NM_001005242.3(PKP2):c.2299C>T (p.Arg767Cys)
|
rs139734328
|
|
|
NM_001005242.3(PKP2):c.2300G>C (p.Arg767Pro)
|
rs533884071
|
|
|
NM_001005242.3(PKP2):c.230T>C (p.Leu77Pro)
|
rs754446972
|
|
|
NM_001005242.3(PKP2):c.2318G>A (p.Gly773Glu)
|
rs1956119815
|
|
|
NM_001005242.3(PKP2):c.2320G>A (p.Gly774Ser)
|
rs1592726250
|
|
|
NM_001005242.3(PKP2):c.2321G>A (p.Gly774Asp)
|
rs1192534020
|
|
|
NM_001005242.3(PKP2):c.2321G>T (p.Gly774Val)
|
rs1192534020
|
|
|
NM_001005242.3(PKP2):c.2323A>T (p.Ile775Phe)
|
|
|
|
NM_001005242.3(PKP2):c.2326C>A (p.Gln776Lys)
|
|
|
|
NM_001005242.3(PKP2):c.2356G>A (p.Ala786Thr)
|
rs768463319
|
|
|
NM_001005242.3(PKP2):c.2357+5G>A
|
rs1555141020
|
|
|
NM_001005242.3(PKP2):c.2357+6T>A
|
rs1956118785
|
|
|
NM_001005242.3(PKP2):c.2357+6T>G
|
|
|
|
NM_001005242.3(PKP2):c.2357C>T (p.Ala786Val)
|
|
|
|
NM_001005242.3(PKP2):c.2358-3C>G
|
rs1565571096
|
|
|
NM_001005242.3(PKP2):c.2358C>T (p.Ala786=)
|
rs1555140707
|
|
|
NM_001005242.3(PKP2):c.2362G>T (p.Ala788Ser)
|
rs1956082270
|
|
|
NM_001005242.3(PKP2):c.2368A>G (p.Asn790Asp)
|
|
|
|
NM_001005242.3(PKP2):c.2369A>G (p.Asn790Ser)
|
|
|
|
NM_001005242.3(PKP2):c.2370C>G (p.Asn790Lys)
|
rs775519219
|
|
|
NM_001005242.3(PKP2):c.2374G>A (p.Ala792Thr)
|
|
|
|
NM_001005242.3(PKP2):c.2375C>A (p.Ala792Glu)
|
rs759322948
|
|
|
NM_001005242.3(PKP2):c.2380A>G (p.Lys794Glu)
|
rs1247384437
|
|
|
NM_001005242.3(PKP2):c.2383G>A (p.Ala795Thr)
|
|
|
|
NM_001005242.3(PKP2):c.2384C>T (p.Ala795Val)
|
|
|
|
NM_001005242.3(PKP2):c.2387C>T (p.Ala796Val)
|
rs267603440
|
|
|
NM_001005242.3(PKP2):c.2399T>C (p.Leu800Pro)
|
rs794729100
|
|
|
NM_001005242.3(PKP2):c.2402A>T (p.Tyr801Phe)
|
rs1060501187
|
|
|
NM_001005242.3(PKP2):c.2404T>C (p.Ser802Pro)
|
rs1183143350
|
|
|
NM_001005242.3(PKP2):c.2405C>A (p.Ser802Tyr)
|
rs768808114
|
|
|
NM_001005242.3(PKP2):c.2422G>A (p.Glu808Lys)
|
rs727505312
|
|
|
NM_001005242.3(PKP2):c.2445+3A>G
|
rs1956080399
|
|
|
NM_001005242.3(PKP2):c.2446-3A>G
|
rs1956078300
|
|
|
NM_001005242.3(PKP2):c.2446-8T>G
|
rs794729101
|
|
|
NM_001005242.3(PKP2):c.2455A>C (p.Lys819Gln)
|
rs1235732912
|
|
|
NM_001005242.3(PKP2):c.2461A>G (p.Thr821Ala)
|
|
|
|
NM_001005242.3(PKP2):c.2462C>T (p.Thr821Ile)
|
|
|
|
NM_001005242.3(PKP2):c.2466_2469del (p.Asp822fs)
|
rs1956077836
|
|
|
NM_001005242.3(PKP2):c.2470G>A (p.Val824Ile)
|
|
|
|
NM_001005242.3(PKP2):c.2471T>G (p.Val824Gly)
|
|
|
|
NM_001005242.3(PKP2):c.2473A>G (p.Asn825Asp)
|
|
|
|
NM_001005242.3(PKP2):c.2474A>C (p.Asn825Thr)
|
|
|
|
NM_001005242.3(PKP2):c.2485G>A (p.Ala829Thr)
|
|
|
|
NM_001005242.3(PKP2):c.2489A>G (p.Lys830Arg)
|
rs1956077369
|
|
|
NM_001005242.3(PKP2):c.2501C>T (p.Ser834Phe)
|
rs1216433436
|
|
|
NM_001005242.3(PKP2):c.2504T>G (p.Leu835Arg)
|
rs775572104
|
|
|
NM_001005242.3(PKP2):c.250C>T (p.Pro84Ser)
|
rs756468173
|
|
|
NM_001005242.3(PKP2):c.253G>A (p.Glu85Lys)
|
rs2137953226
|
|
|
NM_001005242.3(PKP2):c.257A>G (p.Tyr86Cys)
|
|
|
|
NM_001005242.3(PKP2):c.265A>T (p.Asn89Tyr)
|
rs1335621190
|
|
|
NM_001005242.3(PKP2):c.274T>G (p.Leu92Val)
|
rs773851296
|
|
|
NM_001005242.3(PKP2):c.275T>C (p.Leu92Ser)
|
|
|
|
NM_001005242.3(PKP2):c.278T>G (p.Val93Gly)
|
rs2137952929
|
|
|
NM_001005242.3(PKP2):c.28T>C (p.Tyr10His)
|
rs1237779872
|
|
|
NM_001005242.3(PKP2):c.302G>T (p.Arg101Leu)
|
|
|
|
NM_001005242.3(PKP2):c.305C>T (p.Ser102Phe)
|
rs990377209
|
|
|
NM_001005242.3(PKP2):c.307C>G (p.Pro103Ala)
|
rs139215336
|
|
|
NM_001005242.3(PKP2):c.307C>T (p.Pro103Ser)
|
rs139215336
|
|
|
NM_001005242.3(PKP2):c.313C>G (p.Pro105Ala)
|
rs375035084
|
|
|
NM_001005242.3(PKP2):c.31G>T (p.Gly11Cys)
|
rs1250140346
|
|
|
NM_001005242.3(PKP2):c.336G>A (p.Lys112=)
|
rs2137952432
|
|
|
NM_001005242.3(PKP2):c.337G>T (p.Ala113Ser)
|
|
|
|
NM_001005242.3(PKP2):c.343A>G (p.Thr115Ala)
|
|
|
|
NM_001005242.3(PKP2):c.359A>C (p.Glu120Ala)
|
|
|
|
NM_001005242.3(PKP2):c.365G>T (p.Arg122Leu)
|
rs201306582
|
|
|
NM_001005242.3(PKP2):c.387G>T (p.Gln129His)
|
|
|
|
NM_001005242.3(PKP2):c.406G>T (p.Val136Leu)
|
rs567795321
|
|
|
NM_001005242.3(PKP2):c.427C>T (p.His143Tyr)
|
|
|
|
NM_001005242.3(PKP2):c.428_430dup (p.His143dup)
|
rs2137950571
|
|
|
NM_001005242.3(PKP2):c.433C>G (p.Leu145Val)
|
|
|
|
NM_001005242.3(PKP2):c.440G>C (p.Arg147Thr)
|
rs1956955311
|
|
|
NM_001005242.3(PKP2):c.460A>G (p.Ser154Gly)
|
rs1956955101
|
|
|
NM_001005242.3(PKP2):c.469G>A (p.Glu157Lys)
|
rs1956954911
|
|
|
NM_001005242.3(PKP2):c.482A>G (p.Tyr161Cys)
|
|
|
|
NM_001005242.3(PKP2):c.488A>G (p.His163Arg)
|
|
|
|
NM_001005242.3(PKP2):c.514A>C (p.Ser172Arg)
|
rs2137949935
|
|
|
NM_001005242.3(PKP2):c.523G>T (p.Gly175Trp)
|
rs2137949835
|
|
|
NM_001005242.3(PKP2):c.527A>G (p.His176Arg)
|
rs1380823797
|
|
|
NM_001005242.3(PKP2):c.536A>C (p.His179Pro)
|
rs1371222715
|
|
|
NM_001005242.3(PKP2):c.53G>A (p.Gly18Asp)
|
|
|
|
NM_001005242.3(PKP2):c.549_551del (p.Ser183del)
|
rs1358236902
|
|
|
NM_001005242.3(PKP2):c.56A>C (p.Gln19Pro)
|
|
|
|
NM_001005242.3(PKP2):c.584C>T (p.Ala195Val)
|
rs1041783952
|
|
|
NM_001005242.3(PKP2):c.586C>T (p.Arg196Cys)
|
rs748957791
|
|
|
NM_001005242.3(PKP2):c.592G>A (p.Glu198Lys)
|
rs1040585677
|
|
|
NM_001005242.3(PKP2):c.596T>A (p.Ile199Asn)
|
|
|
|
NM_001005242.3(PKP2):c.59A>G (p.Gln20Arg)
|
rs2138011134
|
|
|
NM_001005242.3(PKP2):c.613G>A (p.Ala205Thr)
|
|
|
|
NM_001005242.3(PKP2):c.629G>A (p.Arg210Lys)
|
rs1555148132
|
|
|
NM_001005242.3(PKP2):c.635G>A (p.Arg212His)
|
rs1369618463
|
|
|
NM_001005242.3(PKP2):c.635G>T (p.Arg212Leu)
|
|
|
|
NM_001005242.3(PKP2):c.647C>G (p.Thr216Arg)
|
rs2137948919
|
|
|
NM_001005242.3(PKP2):c.655A>G (p.Arg219Gly)
|
rs1309098966
|
|
|
NM_001005242.3(PKP2):c.656G>A (p.Arg219Lys)
|
|
|
|
NM_001005242.3(PKP2):c.659A>G (p.Gln220Arg)
|
|
|
|
NM_001005242.3(PKP2):c.671G>A (p.Gly224Asp)
|
rs942876582
|
|
|
NM_001005242.3(PKP2):c.724A>G (p.Thr242Ala)
|
|
|
|
NM_001005242.3(PKP2):c.739G>C (p.Gly247Arg)
|
rs1035589373
|
|
|
NM_001005242.3(PKP2):c.73C>G (p.Leu25Val)
|
rs1555149974
|
|
|
NM_001005242.3(PKP2):c.746G>T (p.Ser249Ile)
|
rs1085307949
|
|
|
NM_001005242.3(PKP2):c.749G>A (p.Arg250His)
|
rs369332786
|
|
|
NM_001005242.3(PKP2):c.749G>T (p.Arg250Leu)
|
rs369332786
|
|
|
NM_001005242.3(PKP2):c.752G>A (p.Ser251Asn)
|
|
|
|
NM_001005242.3(PKP2):c.755T>C (p.Met252Thr)
|
|
|
|
NM_001005242.3(PKP2):c.764T>C (p.Leu255Pro)
|
|
|
|
NM_001005242.3(PKP2):c.766T>A (p.Leu256Met)
|
|
|
|
NM_001005242.3(PKP2):c.779A>G (p.Asn260Ser)
|
|
|
|
NM_001005242.3(PKP2):c.785T>C (p.Leu262Pro)
|
|
|
|
NM_001005242.3(PKP2):c.806G>A (p.Gly269Glu)
|
rs1341619257
|
|
|
NM_001005242.3(PKP2):c.809A>G (p.Gln270Arg)
|
|
|
|
NM_001005242.3(PKP2):c.811G>A (p.Val271Ile)
|
rs876657953
|
|
|
NM_001005242.3(PKP2):c.827C>T (p.Pro276Leu)
|
|
|
|
NM_001005242.3(PKP2):c.830T>G (p.Leu277Arg)
|
|
|
|
NM_001005242.3(PKP2):c.834G>C (p.Gln278His)
|
|
|
|
NM_001005242.3(PKP2):c.875A>C (p.Gln292Pro)
|
|
|
|
NM_001005242.3(PKP2):c.875A>G (p.Gln292Arg)
|
|
|
|
NM_001005242.3(PKP2):c.887A>C (p.His296Pro)
|
|
|
|
NM_001005242.3(PKP2):c.891C>G (p.Ser297Arg)
|
rs2137947060
|
|
|
NM_001005242.3(PKP2):c.893C>T (p.Thr298Ile)
|
rs753271708
|
|
|
NM_001005242.3(PKP2):c.896G>A (p.Arg299His)
|
rs755425370
|
|
|
NM_001005242.3(PKP2):c.899C>T (p.Thr300Met)
|
rs553098424
|
|
|
NM_001005242.3(PKP2):c.89T>A (p.Leu30Gln)
|
rs1957128191
|
|
|
NM_001005242.3(PKP2):c.905G>A (p.Arg302Lys)
|
|
|
|
NM_001005242.3(PKP2):c.916C>A (p.Pro306Thr)
|
rs1209340253
|
|
|
NM_001005242.3(PKP2):c.919A>G (p.Ser307Gly)
|
|
|
|
NM_001005242.3(PKP2):c.920G>T (p.Ser307Ile)
|
|
|
|
NM_001005242.3(PKP2):c.926_928dup (p.Ala309dup)
|
rs869025497
|
|
|
NM_001005242.3(PKP2):c.928G>C (p.Val310Leu)
|
|
|
|
NM_001005242.3(PKP2):c.92_93insCCGCCCCCGCCCCCGGGCCCGACTGCGCGTGCCCGGCCGGAGCCGCGCCCCCTCCTCAGGGAAGGCCGG (p.Ala31_Leu32insArgProArgProArgAlaArgLeuArgValProGlyArgSerArgAlaProSerSerGlyLysAlaGly)
|
|
|
|
NM_001005242.3(PKP2):c.934T>C (p.Ser312Pro)
|
rs756604557
|
|
|
NM_001005242.3(PKP2):c.940G>A (p.Gly314Arg)
|
rs551812289
|
|
|
NM_001005242.3(PKP2):c.947G>A (p.Arg316Lys)
|
rs1956947177
|
|
|
NM_001005242.3(PKP2):c.94C>A (p.Leu32Met)
|
|
|
|
NM_001005242.3(PKP2):c.95T>G (p.Leu32Arg)
|
rs1011184194
|
|
|
NM_001005242.3(PKP2):c.964G>A (p.Gly322Ser)
|
rs200069860
|
|
|
NM_001005242.3(PKP2):c.964G>C (p.Gly322Arg)
|
|
|
|
NM_001005242.3(PKP2):c.968A>G (p.Gln323Arg)
|
rs879096591
|
|
|
NM_001005242.3(PKP2):c.968_971inv (p.Gln323_Ala324delinsArgLeu)
|
|
|
|
NM_001005242.3(PKP2):c.971C>T (p.Ala324Val)
|
rs529523595
|
|
|
NM_001005242.3(PKP2):c.976G>T (p.Ala326Ser)
|
|
|
|
NM_001005242.3(PKP2):c.977C>A (p.Ala326Glu)
|
rs762949110
|
|
|
NM_001005242.3(PKP2):c.980G>A (p.Gly327Glu)
|
rs759660796
|
|
|
NM_001005242.3(PKP2):c.980G>T (p.Gly327Val)
|
rs759660796
|
|
|
NM_001005242.3(PKP2):c.983G>T (p.Gly328Val)
|
rs144651139
|
|
|
NM_001005242.3(PKP2):c.985A>T (p.Ser329Cys)
|
rs779173447
|
|
|
NM_001018005.2(TPM1):c.103A>G (p.Arg35Gly)
|
rs1596297347
|
|
|
NM_001018005.2(TPM1):c.104G>A (p.Arg35Lys)
|
rs730881152
|
|
|
NM_001018005.2(TPM1):c.107G>A (p.Ser36Asn)
|
rs1174194983
|
|
|
NM_001018005.2(TPM1):c.108C>A (p.Ser36Arg)
|
|
|
|
NM_001018005.2(TPM1):c.108C>G (p.Ser36Arg)
|
|
|
|
NM_001018005.2(TPM1):c.109A>C (p.Lys37Gln)
|
rs199476303
|
|
|
NM_001018005.2(TPM1):c.109A>G (p.Lys37Glu)
|
rs199476303
|
|
|
NM_001018005.2(TPM1):c.10A>G (p.Ile4Val)
|
rs730881148
|
|
|
NM_001018005.2(TPM1):c.112C>G (p.Gln38Glu)
|
rs1060501863
|
|
|
NM_001018005.2(TPM1):c.114+6C>G
|
|
|
|
NM_001018005.2(TPM1):c.114G>A (p.Gln38=)
|
rs2031445986
|
|
|
NM_001018005.2(TPM1):c.115-3C>T
|
|
|
|
NM_001018005.2(TPM1):c.115-7C>G
|
|
|
|
NM_001018005.2(TPM1):c.118G>A (p.Glu40Lys)
|
rs104894501
|
|
|
NM_001018005.2(TPM1):c.140A>G (p.Gln47Arg)
|
rs1060501864
|
|
|
NM_001018005.2(TPM1):c.148C>A (p.Leu50Ile)
|
rs1060501866
|
|
|
NM_001018005.2(TPM1):c.148C>T (p.Leu50Phe)
|
rs1060501866
|
|
|
NM_001018005.2(TPM1):c.14AGA[2] (p.Lys7del)
|
rs730881155
|
|
|
NM_001018005.2(TPM1):c.152A>G (p.Lys51Arg)
|
rs1566937728
|
|
|
NM_001018005.2(TPM1):c.157A>T (p.Thr53Ser)
|
|
|
|
NM_001018005.2(TPM1):c.158C>T (p.Thr53Ile)
|
rs2140628162
|
|
|
NM_001018005.2(TPM1):c.160G>A (p.Glu54Lys)
|
rs104894505
|
|
|
NM_001018005.2(TPM1):c.164A>G (p.Asp55Gly)
|
rs1566937759
|
|
|
NM_001018005.2(TPM1):c.167A>G (p.Glu56Gly)
|
|
|
|
NM_001018005.2(TPM1):c.170T>C (p.Leu57Pro)
|
|
|
|
NM_001018005.2(TPM1):c.172G>C (p.Asp58His)
|
rs199476304
|
|
|
NM_001018005.2(TPM1):c.178T>C (p.Tyr60His)
|
rs2031862156
|
|
|
NM_001018005.2(TPM1):c.179dup (p.Tyr60Ter)
|
|
|
|
NM_001018005.2(TPM1):c.181T>C (p.Ser61Pro)
|
rs2031863016
|
|
|
NM_001018005.2(TPM1):c.182C>G (p.Ser61Cys)
|
rs2031863455
|
|
|
NM_001018005.2(TPM1):c.187G>A (p.Ala63Thr)
|
rs1064796782
|
|
|
NM_001018005.2(TPM1):c.196G>A (p.Asp66Asn)
|
rs2031866819
|
|
|
NM_001018005.2(TPM1):c.196G>C (p.Asp66His)
|
rs2031866819
|
|
|
NM_001018005.2(TPM1):c.200C>A (p.Ala67Asp)
|
rs2031867397
|
|
|
NM_001018005.2(TPM1):c.203A>G (p.Gln68Arg)
|
rs2140629082
|
|
|
NM_001018005.2(TPM1):c.209A>C (p.Lys70Thr)
|
rs199476307
|
|
|
NM_001018005.2(TPM1):c.209A>G (p.Lys70Arg)
|
rs199476307
|
|
|
NM_001018005.2(TPM1):c.211C>G (p.Leu71Val)
|
rs730881143
|
|
|
NM_001018005.2(TPM1):c.214G>A (p.Glu72Lys)
|
rs1566937844
|
|
|
NM_001018005.2(TPM1):c.214G>T (p.Glu72Ter)
|
|
|
|
NM_001018005.2(TPM1):c.215A>G (p.Glu72Gly)
|
rs1358909905
|
|
|
NM_001018005.2(TPM1):c.221C>T (p.Ala74Val)
|
|
|
|
NM_001018005.2(TPM1):c.226A>G (p.Lys76Glu)
|
rs1555403432
|
|
|
NM_001018005.2(TPM1):c.22A>G (p.Met8Val)
|
|
|
|
NM_001018005.2(TPM1):c.230A>G (p.Lys77Arg)
|
rs2140629423
|
|
|
NM_001018005.2(TPM1):c.236C>T (p.Thr79Ile)
|
rs2031873302
|
|
|
NM_001018005.2(TPM1):c.238G>A (p.Asp80Asn)
|
|
|
|
NM_001018005.2(TPM1):c.239A>G (p.Asp80Gly)
|
rs2031873696
|
|
|
NM_001018005.2(TPM1):c.23T>A (p.Met8Lys)
|
rs397516364
|
|
|
NM_001018005.2(TPM1):c.23T>C (p.Met8Thr)
|
|
|
|
NM_001018005.2(TPM1):c.240+1G>A
|
rs730881146
|
|
|
NM_001018005.2(TPM1):c.240+2dup
|
|
|
|
NM_001018005.2(TPM1):c.240+3A>G
|
rs1555403436
|
|
|
NM_001018005.2(TPM1):c.240+8C>T
|
|
|
|
NM_001018005.2(TPM1):c.241G>A (p.Ala81Thr)
|
|
|
|
NM_001018005.2(TPM1):c.242C>T (p.Ala81Val)
|
rs1596360642
|
|
|
NM_001018005.2(TPM1):c.24_25delinsAA (p.Met8_Gln9delinsIleLys)
|
|
|
|
NM_001018005.2(TPM1):c.251A>T (p.Asp84Val)
|
rs2034909771
|
|
|
NM_001018005.2(TPM1):c.252C>G (p.Asp84Glu)
|
rs369617788
|
|
|
NM_001018005.2(TPM1):c.253G>A (p.Val85Ile)
|
rs730881156
|
|
|
NM_001018005.2(TPM1):c.253G>T (p.Val85Leu)
|
rs730881156
|
|
|
NM_001018005.2(TPM1):c.257C>T (p.Ala86Val)
|
rs757577112
|
|
|
NM_001018005.2(TPM1):c.262C>G (p.Leu88Val)
|
rs1555407795
|
|
|
NM_001018005.2(TPM1):c.267C>G (p.Asn89Lys)
|
rs1085307487
|
|
|
NM_001018005.2(TPM1):c.269G>A (p.Arg90Lys)
|
rs1596360823
|
|
|
NM_001018005.2(TPM1):c.26A>G (p.Gln9Arg)
|
rs1555402931
|
|
|
NM_001018005.2(TPM1):c.26A>T (p.Gln9Leu)
|
rs1555402931
|
|
|
NM_001018005.2(TPM1):c.271C>T (p.Arg91Cys)
|
rs1266444831
|
|
|
NM_001018005.2(TPM1):c.283G>A (p.Val95Ile)
|
|
|
|
NM_001018005.2(TPM1):c.283G>C (p.Val95Leu)
|
rs2140907954
|
|
|
NM_001018005.2(TPM1):c.287A>G (p.Glu96Gly)
|
rs2140907992
|
|
|
NM_001018005.2(TPM1):c.2T>C (p.Met1Thr)
|
rs1475635564
|
|
|
NM_001018005.2(TPM1):c.301C>T (p.Arg101Cys)
|
|
|
|
NM_001018005.2(TPM1):c.30G>A (p.Met10Ile)
|
|
|
|
NM_001018005.2(TPM1):c.310G>C (p.Glu104Gln)
|
rs1596361132
|
|
|
NM_001018005.2(TPM1):c.313C>T (p.Arg105Cys)
|
|
|
|
NM_001018005.2(TPM1):c.316C>A (p.Leu106Met)
|
|
|
|
NM_001018005.2(TPM1):c.326C>T (p.Ala109Val)
|
|
|
|
NM_001018005.2(TPM1):c.331C>G (p.Gln111Glu)
|
|
|
|
NM_001018005.2(TPM1):c.331C>T (p.Gln111Ter)
|
rs2034924162
|
|
|
NM_001018005.2(TPM1):c.332A>G (p.Gln111Arg)
|
rs2034924462
|
|
|
NM_001018005.2(TPM1):c.337C>G (p.Leu113Val)
|
rs397516369
|
|
|
NM_001018005.2(TPM1):c.343G>A (p.Glu115Lys)
|
rs727504313
|
|
|
NM_001018005.2(TPM1):c.350A>G (p.Glu117Gly)
|
rs2140908958
|
|
|
NM_001018005.2(TPM1):c.371A>G (p.Glu124Gly)
|
|
|
|
NM_001018005.2(TPM1):c.377G>C (p.Gly126Ala)
|
|
|
|
NM_001018005.2(TPM1):c.377G>T (p.Gly126Val)
|
rs1566962034
|
|
|
NM_001018005.2(TPM1):c.384A>C (p.Lys128Asn)
|
|
|
|
NM_001018005.2(TPM1):c.385G>T (p.Val129Phe)
|
rs2140937065
|
|
|
NM_001018005.2(TPM1):c.403C>G (p.Gln135Glu)
|
rs11558749
|
|
|
NM_001018005.2(TPM1):c.408_410del (p.Lys136_Asp137delinsAsn)
|
rs1064797199
|
|
|
NM_001018005.2(TPM1):c.410A>T (p.Asp137Val)
|
rs730881134
|
|
|
NM_001018005.2(TPM1):c.413A>C (p.Glu138Ala)
|
rs786204410
|
|
|
NM_001018005.2(TPM1):c.416A>G (p.Glu139Gly)
|
rs727504389
|
|
|
NM_001018005.2(TPM1):c.421A>G (p.Met141Val)
|
rs2035311298
|
|
|
NM_001018005.2(TPM1):c.428T>G (p.Ile143Ser)
|
rs730881136
|
|
|
NM_001018005.2(TPM1):c.431A>G (p.Gln144Arg)
|
rs1566962338
|
|
|
NM_001018005.2(TPM1):c.433G>C (p.Glu145Gln)
|
rs2140937964
|
|
|
NM_001018005.2(TPM1):c.434A>C (p.Glu145Ala)
|
rs2140937995
|
|
|
NM_001018005.2(TPM1):c.437T>G (p.Ile146Ser)
|
rs2035315481
|
|
|
NM_001018005.2(TPM1):c.438C>G (p.Ile146Met)
|
rs1460142862
|
|
|
NM_001018005.2(TPM1):c.439C>T (p.Gln147Ter)
|
rs2140938088
|
|
|
NM_001018005.2(TPM1):c.43A>G (p.Lys15Glu)
|
|
|
|
NM_001018005.2(TPM1):c.454A>G (p.Lys152Glu)
|
|
|
|
NM_001018005.2(TPM1):c.457C>G (p.His153Asp)
|
rs397516372
|
|
|
NM_001018005.2(TPM1):c.460A>G (p.Ile154Val)
|
rs1555408679
|
|
|
NM_001018005.2(TPM1):c.462T>G (p.Ile154Met)
|
rs2140938472
|
|
|
NM_001018005.2(TPM1):c.469G>A (p.Asp157Asn)
|
|
|
|
NM_001018005.2(TPM1):c.469G>T (p.Asp157Tyr)
|
|
|
|
NM_001018005.2(TPM1):c.46G>A (p.Glu16Lys)
|
rs727504290
|
|
|
NM_001018005.2(TPM1):c.46G>C (p.Glu16Gln)
|
rs727504290
|
|
|
NM_001018005.2(TPM1):c.492+3C>G
|
rs1225074580
|
|
|
NM_001018005.2(TPM1):c.499dup (p.Arg167fs)
|
rs1596377768
|
|
|
NM_001018005.2(TPM1):c.4G>C (p.Asp2His)
|
rs1060501865
|
|
|
NM_001018005.2(TPM1):c.505C>G (p.Leu169Val)
|
|
|
|
NM_001018005.2(TPM1):c.508G>A (p.Val170Ile)
|
rs1555409095
|
|
|
NM_001018005.2(TPM1):c.511A>C (p.Ile171Leu)
|
rs774903903
|
|
|
NM_001018005.2(TPM1):c.515T>C (p.Ile172Thr)
|
rs199476312
|
|
|
NM_001018005.2(TPM1):c.516T>G (p.Ile172Met)
|
rs730881138
|
|
|
NM_001018005.2(TPM1):c.51C>G (p.Asn17Lys)
|
rs878854150
|
|
|
NM_001018005.2(TPM1):c.523G>T (p.Asp175Tyr)
|
|
|
|
NM_001018005.2(TPM1):c.526C>G (p.Leu176Val)
|
|
|
|
NM_001018005.2(TPM1):c.533G>A (p.Arg178His)
|
rs397516375
|
|
|
NM_001018005.2(TPM1):c.538G>C (p.Glu180Gln)
|
rs1555409132
|
|
|
NM_001018005.2(TPM1):c.53C>A (p.Ala18Asp)
|
rs730881150
|
|
|
NM_001018005.2(TPM1):c.53C>T (p.Ala18Val)
|
rs730881150
|
|
|
NM_001018005.2(TPM1):c.552G>T (p.Glu184Asp)
|
|
|
|
NM_001018005.2(TPM1):c.560A>G (p.Glu187Gly)
|
|
|
|
NM_001018005.2(TPM1):c.560A>T (p.Glu187Val)
|
rs786204411
|
|
|
NM_001018005.2(TPM1):c.562G>A (p.Gly188Ser)
|
rs2035531508
|
|
|
NM_001018005.2(TPM1):c.563+3A>G
|
|
|
|
NM_001018005.2(TPM1):c.563+6C>A
|
rs397516378
|
|
|
NM_001018005.2(TPM1):c.563+6C>G
|
rs397516378
|
|
|
NM_001018005.2(TPM1):c.572_573delinsTT (p.Ala191Val)
|
rs730881154
|
|
|
NM_001018005.2(TPM1):c.583G>A (p.Glu195Lys)
|
rs1555409508
|
|
|
NM_001018005.2(TPM1):c.586G>T (p.Glu196Ter)
|
rs1131003
|
|
|
NM_001018005.2(TPM1):c.58G>A (p.Asp20Asn)
|
rs727504391
|
|
|
NM_001018005.2(TPM1):c.590T>C (p.Leu197Ser)
|
|
|
|
NM_001018005.2(TPM1):c.592A>G (p.Lys198Glu)
|
rs730881140
|
|
|
NM_001018005.2(TPM1):c.607A>G (p.Asn203Asp)
|
rs1555409523
|
|
|
NM_001018005.2(TPM1):c.609C>G (p.Asn203Lys)
|
rs397516486
|
|
|
NM_001018005.2(TPM1):c.625G>C (p.Ala209Pro)
|
rs730881159
|
|
|
NM_001018005.2(TPM1):c.625G>T (p.Ala209Ser)
|
rs730881159
|
|
|
NM_001018005.2(TPM1):c.629A>G (p.Gln210Arg)
|
rs777139450
|
|
|
NM_001018005.2(TPM1):c.632C>T (p.Ala211Val)
|
rs397516487
|
|
|
NM_001018005.2(TPM1):c.635A>T (p.Glu212Val)
|
rs769951937
|
|
|
NM_001018005.2(TPM1):c.639G>A (p.Lys213=)
|
|
|
|
NM_001018005.2(TPM1):c.647A>G (p.Gln216Arg)
|
rs2140969414
|
|
|
NM_001018005.2(TPM1):c.655G>A (p.Asp219Asn)
|
rs727503518
|
|
|
NM_001018005.2(TPM1):c.656A>G (p.Asp219Gly)
|
rs2140969490
|
|
|
NM_001018005.2(TPM1):c.65C>T (p.Ala22Val)
|
rs2031431973
|
|
|
NM_001018005.2(TPM1):c.662A>G (p.Tyr221Cys)
|
|
|
|
NM_001018005.2(TPM1):c.677A>G (p.Lys226Arg)
|
rs730881144
|
|
|
NM_001018005.2(TPM1):c.679G>T (p.Val227Phe)
|
rs1368991319
|
|
|
NM_001018005.2(TPM1):c.67G>C (p.Glu23Gln)
|
rs199476302
|
|
|
NM_001018005.2(TPM1):c.68A>C (p.Glu23Ala)
|
rs2140595470
|
|
|
NM_001018005.2(TPM1):c.702+4A>G
|
rs730881145
|
|
|
NM_001018005.2(TPM1):c.702+5T>C
|
rs2140970259
|
|
|
NM_001018005.2(TPM1):c.702+6A>G
|
|
|
|
NM_001018005.2(TPM1):c.70C>T (p.Gln24Ter)
|
|
|
|
NM_001018005.2(TPM1):c.713G>A (p.Arg238Gln)
|
rs777716347
|
|
|
NM_001018005.2(TPM1):c.713G>T (p.Arg238Leu)
|
rs777716347
|
|
|
NM_001018005.2(TPM1):c.715G>A (p.Ala239Thr)
|
rs199476318
|
|
|
NM_001018005.2(TPM1):c.736G>A (p.Val246Ile)
|
rs1596386599
|
|
|
NM_001018005.2(TPM1):c.743A>C (p.Lys248Thr)
|
rs730881160
|
|
|
NM_001018005.2(TPM1):c.74C>T (p.Ala25Val)
|
rs2031433815
|
|
|
NM_001018005.2(TPM1):c.751A>G (p.Lys251Glu)
|
rs2035793563
|
|
|
NM_001018005.2(TPM1):c.755G>C (p.Ser252Thr)
|
rs1375629623
|
|
|
NM_001018005.2(TPM1):c.760G>A (p.Asp254Asn)
|
|
|
|
NM_001018005.2(TPM1):c.762T>A (p.Asp254Glu)
|
rs727504354
|
|
|
NM_001018005.2(TPM1):c.762T>G (p.Asp254Glu)
|
rs727504354
|
|
|
NM_001018005.2(TPM1):c.76G>A (p.Glu26Lys)
|
rs2140595656
|
|
|
NM_001018005.2(TPM1):c.772+10_772+11insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNAAATGCCTACAAGAGAAAGCAGGAAAGATCCAAAATTGACACCCTAACATCACAATTAAAAGAACTAGAAGGTAAGATCTT
|
|
|
|
NM_001018005.2(TPM1):c.772+9T>G
|
|
|
|
NM_001018005.2(TPM1):c.773A>G (p.Asp258Gly)
|
|
|
|
NM_001018005.2(TPM1):c.775G>A (p.Glu259Lys)
|
rs397516389
|
|
|
NM_001018005.2(TPM1):c.775G>C (p.Glu259Gln)
|
rs397516389
|
|
|
NM_001018005.2(TPM1):c.777G>T (p.Glu259Asp)
|
rs2035997247
|
|
|
NM_001018005.2(TPM1):c.787C>G (p.Gln263Glu)
|
rs730881147
|
|
|
NM_001018005.2(TPM1):c.790A>G (p.Lys264Glu)
|
rs397516390
|
|
|
NM_001018005.2(TPM1):c.803A>C (p.Lys268Thr)
|
rs1395706088
|
|
|
NM_001018005.2(TPM1):c.806C>T (p.Ala269Val)
|
rs1342749492
|
|
|
NM_001018005.2(TPM1):c.808A>G (p.Ile270Val)
|
rs1555410445
|
|
|
NM_001018005.2(TPM1):c.810C>G (p.Ile270Met)
|
|
|
|
NM_001018005.2(TPM1):c.813C>G (p.Ser271Arg)
|
|
|
|
NM_001018005.2(TPM1):c.815A>C (p.Glu272Ala)
|
rs727503519
|
|
|
NM_001018005.2(TPM1):c.817G>A (p.Glu273Lys)
|
|
|
|
NM_001018005.2(TPM1):c.820C>A (p.Leu274Met)
|
rs2140992377
|
|
|
NM_001018005.2(TPM1):c.823G>C (p.Asp275His)
|
rs2036002326
|
|
|
NM_001018005.2(TPM1):c.826C>A (p.His276Asn)
|
rs2140992472
|
|
|
NM_001018005.2(TPM1):c.826C>G (p.His276Asp)
|
rs2140992472
|
|
|
NM_001018005.2(TPM1):c.82G>T (p.Asp28Tyr)
|
rs397516391
|
|
|
NM_001018005.2(TPM1):c.830C>T (p.Ala277Val)
|
rs199476320
|
|
|
NM_001018005.2(TPM1):c.832C>T (p.Leu278Phe)
|
rs730881161
|
|
|
NM_001018005.2(TPM1):c.838G>C (p.Asp280His)
|
rs777635889
|
|
|
NM_001018005.2(TPM1):c.846T>G (p.Thr282=)
|
|
|
|
NM_001018005.2(TPM1):c.851+5dup
|
rs2036008903
|
|
|
NM_001018005.2(TPM1):c.851+6C>A
|
rs375043184
|
|
|
NM_001018005.2(TPM1):c.851T>C (p.Ile284Thr)
|
rs745520822
|
|
|
NM_001018005.2(TPM1):c.852-5C>A
|
|
|
|
NM_001018005.2(TPM1):c.852A>C (p.Ile284=)
|
rs759481997
|
|
|
NM_001018005.2(TPM1):c.852A>G (p.Ile284Met)
|
|
|
|
NM_001018005.2(TPM1):c.852A>T (p.Ile284=)
|
rs759481997
|
|
|
NM_001018005.2(TPM1):c.88_89delinsGC (p.Lys30Ala)
|
rs1555402999
|
|
|
NM_001018005.2(TPM1):c.8C>T (p.Ala3Val)
|
|
|
|
NM_001018005.2(TPM1):c.94_95delinsTT (p.Ala32Leu)
|
rs2031440279
|
|
|
NM_001018005.2(TPM1):c.97G>A (p.Glu33Lys)
|
rs397516397
|
|
|
NM_001018005.2(TPM1):c.98A>C (p.Glu33Ala)
|
rs886039444
|
|
|
NM_001035.3(RYR2):c.*1_*5dup (p.Ter4968=)
|
rs1252973606
|
|
|
NM_001035.3(RYR2):c.10017C>A (p.His3339Gln)
|
|
|
|
NM_001035.3(RYR2):c.10024G>C (p.Ala3342Pro)
|
rs779445295
|
|
|
NM_001035.3(RYR2):c.10031_10034del (p.Ala3344fs)
|
|
|
|
NM_001035.3(RYR2):c.10035G>C (p.Arg3345Ser)
|
rs754976419
|
|
|
NM_001035.3(RYR2):c.10035G>T (p.Arg3345Ser)
|
rs754976419
|
|
|
NM_001035.3(RYR2):c.10042A>G (p.Met3348Val)
|
rs2149067182
|
|
|
NM_001035.3(RYR2):c.10046C>T (p.Ser3349Leu)
|
rs786205455
|
|
|
NM_001035.3(RYR2):c.1005+1G>A
|
rs1705774837
|
|
|
NM_001035.3(RYR2):c.1005+3G>A
|
rs1705775231
|
|
|
NM_001035.3(RYR2):c.10051G>A (p.Ala3351Thr)
|
rs1057524349
|
|
|
NM_001035.3(RYR2):c.10051G>T (p.Ala3351Ser)
|
rs1057524349
|
|
|
NM_001035.3(RYR2):c.1005G>T (p.Lys335Asn)
|
rs2150058766
|
|
|
NM_001035.3(RYR2):c.10067T>A (p.Leu3356Gln)
|
|
|
|
NM_001035.3(RYR2):c.10076T>C (p.Phe3359Ser)
|
|
|
|
NM_001035.3(RYR2):c.10084C>G (p.Leu3362Val)
|
|
|
|
NM_001035.3(RYR2):c.10093G>A (p.Asp3365Asn)
|
rs1688609248
|
|
|
NM_001035.3(RYR2):c.100A>G (p.Lys34Glu)
|
rs876661385
|
|
|
NM_001035.3(RYR2):c.10105T>C (p.Phe3369Leu)
|
|
|
|
NM_001035.3(RYR2):c.10121T>C (p.Ile3374Thr)
|
|
|
|
NM_001035.3(RYR2):c.10127T>A (p.Phe3376Tyr)
|
rs876657983
|
|
|
NM_001035.3(RYR2):c.10142G>A (p.Arg3381Lys)
|
rs1060500154
|
|
|
NM_001035.3(RYR2):c.10145C>G (p.Ala3382Gly)
|
rs1688652177
|
|
|
NM_001035.3(RYR2):c.10171G>A (p.Glu3391Lys)
|
|
|
|
NM_001035.3(RYR2):c.10174G>T (p.Ala3392Ser)
|
rs1325112585
|
|
|
NM_001035.3(RYR2):c.1017T>G (p.Asp339Glu)
|
|
|
|
NM_001035.3(RYR2):c.10189C>G (p.Arg3397Gly)
|
|
|
|
NM_001035.3(RYR2):c.10198G>T (p.Ala3400Ser)
|
|
|
|
NM_001035.3(RYR2):c.10205T>C (p.Val3402Ala)
|
rs1553294519
|
|
|
NM_001035.3(RYR2):c.10299T>A (p.Thr3433=)
|
|
|
|
NM_001035.3(RYR2):c.102G>T (p.Lys34Asn)
|
|
|
|
NM_001035.3(RYR2):c.10310C>T (p.Ser3437Leu)
|
|
|
|
NM_001035.3(RYR2):c.10314G>T (p.Lys3438Asn)
|
rs2149079692
|
|
|
NM_001035.3(RYR2):c.10315A>G (p.Met3439Val)
|
|
|
|
NM_001035.3(RYR2):c.10325C>T (p.Ala3442Val)
|
rs727503403
|
|
|
NM_001035.3(RYR2):c.1032del (p.Glu345fs)
|
rs1707880851
|
|
|
NM_001035.3(RYR2):c.1033G>C (p.Glu345Gln)
|
|
|
|
NM_001035.3(RYR2):c.10342G>C (p.Glu3448Gln)
|
rs1553298016
|
|
|
NM_001035.3(RYR2):c.10348A>C (p.Lys3450Gln)
|
|
|
|
NM_001035.3(RYR2):c.10360C>G (p.Arg3454Gly)
|
|
|
|
NM_001035.3(RYR2):c.10364A>G (p.Lys3455Arg)
|
rs1573649552
|
|
|
NM_001035.3(RYR2):c.10372C>T (p.Arg3458Trp)
|
|
|
|
NM_001035.3(RYR2):c.10376A>G (p.Tyr3459Cys)
|
|
|
|
NM_001035.3(RYR2):c.1037T>G (p.Val346Gly)
|
|
|
|
NM_001035.3(RYR2):c.10384C>T (p.Gln3462Ter)
|
|
|
|
NM_001035.3(RYR2):c.103C>G (p.Leu35Val)
|
rs1689577425
|
|
|
NM_001035.3(RYR2):c.10405G>C (p.Ala3469Pro)
|
rs759811978
|
|
|
NM_001035.3(RYR2):c.10414C>T (p.Arg3472Trp)
|
rs1689344988
|
|
|
NM_001035.3(RYR2):c.10415G>A (p.Arg3472Gln)
|
|
|
|
NM_001035.3(RYR2):c.10427T>C (p.Ile3476Thr)
|
rs764621718
|
|
|
NM_001035.3(RYR2):c.10430G>A (p.Gly3477Glu)
|
rs1468634766
|
|
|
NM_001035.3(RYR2):c.10433T>C (p.Leu3478Ser)
|
|
|
|
NM_001035.3(RYR2):c.10438A>T (p.Ile3480Phe)
|
|
|
|
NM_001035.3(RYR2):c.10465A>G (p.Ile3489Val)
|
|
|
|
NM_001035.3(RYR2):c.10468G>A (p.Ala3490Thr)
|
|
|
|
NM_001035.3(RYR2):c.10478A>G (p.Lys3493Arg)
|
rs2149100952
|
|
|
NM_001035.3(RYR2):c.10483C>T (p.Arg3495Ter)
|
rs2149100975
|
|
|
NM_001035.3(RYR2):c.10491C>G (p.Ser3497Arg)
|
|
|
|
NM_001035.3(RYR2):c.10494+1G>T
|
|
|
|
NM_001035.3(RYR2):c.10495-9T>C
|
|
|
|
NM_001035.3(RYR2):c.10501A>G (p.Thr3501Ala)
|
rs1689443133
|
|
|
NM_001035.3(RYR2):c.10502_10503delinsTT (p.Thr3501Ile)
|
rs1558281668
|
|
|
NM_001035.3(RYR2):c.10505A>C (p.Glu3502Ala)
|
|
|
|
NM_001035.3(RYR2):c.10505A>G (p.Glu3502Gly)
|
|
|
|
NM_001035.3(RYR2):c.10524A>G (p.Ile3508Met)
|
rs770094996
|
|
|
NM_001035.3(RYR2):c.10528C>A (p.Arg3510Ser)
|
rs201749277
|
|
|
NM_001035.3(RYR2):c.10528C>T (p.Arg3510Cys)
|
rs201749277
|
|
|
NM_001035.3(RYR2):c.10537A>G (p.Ile3513Val)
|
|
|
|
NM_001035.3(RYR2):c.1054T>C (p.Ser352Pro)
|
rs2150146732
|
|
|
NM_001035.3(RYR2):c.10554+6C>A
|
|
|
|
NM_001035.3(RYR2):c.10555-2A>C
|
|
|
|
NM_001035.3(RYR2):c.10555-2A>G
|
|
|
|
NM_001035.3(RYR2):c.10555-3C>T
|
rs1202806553
|
|
|
NM_001035.3(RYR2):c.10574G>A (p.Arg3525Lys)
|
rs2149125484
|
|
|
NM_001035.3(RYR2):c.10591T>C (p.Tyr3531His)
|
rs1689893434
|
|
|
NM_001035.3(RYR2):c.10616A>G (p.Asp3539Gly)
|
rs1689895717
|
|
|
NM_001035.3(RYR2):c.10631C>G (p.Pro3544Arg)
|
rs752032924
|
|
|
NM_001035.3(RYR2):c.10631C>T (p.Pro3544Leu)
|
rs752032924
|
|
|
NM_001035.3(RYR2):c.10643T>C (p.Val3548Ala)
|
|
|
|
NM_001035.3(RYR2):c.10648A>G (p.Arg3550Gly)
|
rs1553300589
|
|
|
NM_001035.3(RYR2):c.10649G>C (p.Arg3550Thr)
|
rs1689899254
|
|
|
NM_001035.3(RYR2):c.10651G>A (p.Val3551Ile)
|
|
|
|
NM_001035.3(RYR2):c.10663G>A (p.Ala3555Thr)
|
rs1689900582
|
|
|
NM_001035.3(RYR2):c.10669G>C (p.Val3557Leu)
|
rs2149125892
|
|
|
NM_001035.3(RYR2):c.10672C>A (p.Leu3558Ile)
|
rs1689901276
|
|
|
NM_001035.3(RYR2):c.10672C>T (p.Leu3558Phe)
|
rs1689901276
|
|
|
NM_001035.3(RYR2):c.10679A>G (p.His3560Arg)
|
|
|
|
NM_001035.3(RYR2):c.10690A>C (p.Lys3564Gln)
|
|
|
|
NM_001035.3(RYR2):c.10715A>G (p.His3572Arg)
|
|
|
|
NM_001035.3(RYR2):c.10725+2G>A
|
|
|
|
NM_001035.3(RYR2):c.10725+6T>C
|
rs2149138948
|
|
|
NM_001035.3(RYR2):c.1073A>G (p.Asp358Gly)
|
rs2150146849
|
|
|
NM_001035.3(RYR2):c.10741A>G (p.Arg3581Gly)
|
rs1690263854
|
|
|
NM_001035.3(RYR2):c.10742G>A (p.Arg3581Lys)
|
rs1390354432
|
|
|
NM_001035.3(RYR2):c.1075T>C (p.Ser359Pro)
|
|
|
|
NM_001035.3(RYR2):c.10765A>C (p.Lys3589Gln)
|
|
|
|
NM_001035.3(RYR2):c.10810C>T (p.Arg3604Trp)
|
|
|
|
NM_001035.3(RYR2):c.10811G>A (p.Arg3604Gln)
|
rs56228594
|
|
|
NM_001035.3(RYR2):c.10817C>T (p.Ala3606Val)
|
|
|
|
NM_001035.3(RYR2):c.10825T>C (p.Tyr3609His)
|
|
|
|
NM_001035.3(RYR2):c.10829A>G (p.Asn3610Ser)
|
|
|
|
NM_001035.3(RYR2):c.1082G>A (p.Cys361Tyr)
|
rs794728719
|
|
|
NM_001035.3(RYR2):c.10837A>G (p.Arg3613Gly)
|
rs2149142608
|
|
|
NM_001035.3(RYR2):c.10839-8C>T
|
rs2149159271
|
|
|
NM_001035.3(RYR2):c.10841A>T (p.His3614Leu)
|
|
|
|
NM_001035.3(RYR2):c.10860_10863del (p.Leu3621fs)
|
|
|
|
NM_001035.3(RYR2):c.10888G>C (p.Glu3630Gln)
|
rs747565166
|
|
|
NM_001035.3(RYR2):c.10904A>G (p.Tyr3635Cys)
|
rs886044331
|
|
|
NM_001035.3(RYR2):c.10916A>T (p.Lys3639Ile)
|
rs1312457776
|
|
|
NM_001035.3(RYR2):c.10922T>C (p.Ile3641Thr)
|
rs1060500145
|
|
|
NM_001035.3(RYR2):c.10933G>A (p.Ala3645Thr)
|
rs1558304228
|
|
|
NM_001035.3(RYR2):c.10935+3A>C
|
|
|
|
NM_001035.3(RYR2):c.10935+4T>C
|
|
|
|
NM_001035.3(RYR2):c.10935+6T>C
|
rs773965672
|
|
|
NM_001035.3(RYR2):c.10935A>G (p.Ala3645=)
|
rs770623086
|
|
|
NM_001035.3(RYR2):c.1093C>G (p.His365Asp)
|
rs2150146977
|
|
|
NM_001035.3(RYR2):c.10940C>T (p.Pro3647Leu)
|
rs776678165
|
|
|
NM_001035.3(RYR2):c.10948G>C (p.Glu3650Gln)
|
rs1690737524
|
|
|
NM_001035.3(RYR2):c.10952C>T (p.Pro3651Leu)
|
|
|
|
NM_001035.3(RYR2):c.1095T>A (p.His365Gln)
|
rs1707886367
|
|
|
NM_001035.3(RYR2):c.10960G>C (p.Glu3654Gln)
|
|
|
|
NM_001035.3(RYR2):c.10963G>C (p.Asp3655His)
|
|
|
|
NM_001035.3(RYR2):c.10969G>A (p.Gly3657Ser)
|
rs1476256919
|
|
|
NM_001035.3(RYR2):c.10984G>C (p.Asp3662His)
|
|
|
|
NM_001035.3(RYR2):c.10994A>G (p.His3665Arg)
|
|
|
|
NM_001035.3(RYR2):c.11003T>A (p.Ile3668Asn)
|
rs1573718675
|
|
|
NM_001035.3(RYR2):c.11005C>T (p.Leu3669Phe)
|
|
|
|
NM_001035.3(RYR2):c.11014A>C (p.Ser3672Arg)
|
|
|
|
NM_001035.3(RYR2):c.11017C>T (p.Arg3673Trp)
|
rs796052205
|
|
|
NM_001035.3(RYR2):c.11024C>A (p.Ala3675Asp)
|
|
|
|
NM_001035.3(RYR2):c.11024C>G (p.Ala3675Gly)
|
rs794728770
|
|
|
NM_001035.3(RYR2):c.11030C>A (p.Thr3677Lys)
|
|
|
|
NM_001035.3(RYR2):c.11039+4del
|
|
|
|
NM_001035.3(RYR2):c.11039+6G>A
|
rs779549361
|
|
|
NM_001035.3(RYR2):c.11068G>C (p.Ala3690Pro)
|
rs751278951
|
|
|
NM_001035.3(RYR2):c.11069C>T (p.Ala3690Val)
|
|
|
|
NM_001035.3(RYR2):c.11087C>A (p.Ala3696Glu)
|
rs1269339524
|
|
|
NM_001035.3(RYR2):c.11089A>G (p.Lys3697Glu)
|
|
|
|
NM_001035.3(RYR2):c.11091+5A>G
|
|
|
|
NM_001035.3(RYR2):c.11099A>G (p.His3700Arg)
|
|
|
|
NM_001035.3(RYR2):c.11116G>T (p.Asp3706Tyr)
|
rs942040362
|
|
|
NM_001035.3(RYR2):c.11140T>G (p.Phe3714Val)
|
rs794728771
|
|
|
NM_001035.3(RYR2):c.11145+5G>A
|
rs1691689283
|
|
|
NM_001035.3(RYR2):c.11145A>C (p.Glu3715Asp)
|
rs2149211578
|
|
|
NM_001035.3(RYR2):c.11150A>G (p.Lys3717Arg)
|
rs1060500141
|
|
|
NM_001035.3(RYR2):c.11152G>T (p.Glu3718Ter)
|
|
|
|
NM_001035.3(RYR2):c.11164C>T (p.Gln3722Ter)
|
rs2149261821
|
|
|
NM_001035.3(RYR2):c.11168A>C (p.Lys3723Thr)
|
rs2149261830
|
|
|
NM_001035.3(RYR2):c.11169G>C (p.Lys3723Asn)
|
rs1692948108
|
|
|
NM_001035.3(RYR2):c.11171T>G (p.Leu3724Arg)
|
rs1692948283
|
|
|
NM_001035.3(RYR2):c.11176T>C (p.Tyr3726His)
|
rs1692948665
|
|
|
NM_001035.3(RYR2):c.11181G>T (p.Gln3727His)
|
rs773884612
|
|
|
NM_001035.3(RYR2):c.11188C>T (p.Arg3730Ter)
|
rs2149261911
|
|
|
NM_001035.3(RYR2):c.11197G>A (p.Asp3733Asn)
|
rs760307737
|
|
|
NM_001035.3(RYR2):c.1119_1122del (p.Tyr374fs)
|
rs1707888448
|
|
|
NM_001035.3(RYR2):c.11207C>G (p.Ala3736Gly)
|
|
|
|
NM_001035.3(RYR2):c.11217G>A (p.Met3739Ile)
|
rs397516502
|
|
|
NM_001035.3(RYR2):c.11218G>T (p.Val3740Leu)
|
rs536555602
|
|
|
NM_001035.3(RYR2):c.11237C>A (p.Ala3746Asp)
|
rs1573821711
|
|
|
NM_001035.3(RYR2):c.11241C>G (p.Ser3747Arg)
|
rs1692954847
|
|
|
NM_001035.3(RYR2):c.11243A>G (p.Lys3748Arg)
|
|
|
|
NM_001035.3(RYR2):c.11245+9C>A
|
rs1692956819
|
|
|
NM_001035.3(RYR2):c.11246-3T>G
|
rs761460667
|
|
|
NM_001035.3(RYR2):c.11246-6T>A
|
rs2149266259
|
|
|
NM_001035.3(RYR2):c.11281C>T (p.Leu3761Phe)
|
|
|
|
NM_001035.3(RYR2):c.11288T>C (p.Ile3763Thr)
|
rs1693078772
|
|
|
NM_001035.3(RYR2):c.11293A>G (p.Ile3765Val)
|
rs767346230
|
|
|
NM_001035.3(RYR2):c.112G>A (p.Ala38Thr)
|
rs747977592
|
|
|
NM_001035.3(RYR2):c.11301T>A (p.Asn3767Lys)
|
rs1693079970
|
|
|
NM_001035.3(RYR2):c.11305G>A (p.Gly3769Arg)
|
|
|
|
NM_001035.3(RYR2):c.11312C>G (p.Ser3771Cys)
|
|
|
|
NM_001035.3(RYR2):c.11315C>T (p.Thr3772Ile)
|
|
|
|
NM_001035.3(RYR2):c.11321A>G (p.Gln3774Arg)
|
rs2149266454
|
|
|
NM_001035.3(RYR2):c.11326A>G (p.Lys3776Glu)
|
rs1558357338
|
|
|
NM_001035.3(RYR2):c.11329A>G (p.Met3777Val)
|
rs2149272666
|
|
|
NM_001035.3(RYR2):c.11331G>T (p.Met3777Ile)
|
|
|
|
NM_001035.3(RYR2):c.11339A>G (p.Tyr3780Cys)
|
|
|
|
NM_001035.3(RYR2):c.11362G>A (p.Gly3788Ser)
|
rs775471018
|
|
|
NM_001035.3(RYR2):c.11398T>A (p.Cys3800Ser)
|
rs397516504
|
|
|
NM_001035.3(RYR2):c.11398T>C (p.Cys3800Arg)
|
rs397516504
|
|
|
NM_001035.3(RYR2):c.11399G>T (p.Cys3800Phe)
|
rs1239093704
|
|
|
NM_001035.3(RYR2):c.113C>A (p.Ala38Glu)
|
rs1689579128
|
|
|
NM_001035.3(RYR2):c.11402+4A>G
|
rs1553313446
|
|
|
NM_001035.3(RYR2):c.11403T>C (p.Ser3801=)
|
rs1261086877
|
|
|
NM_001035.3(RYR2):c.11420C>T (p.Ala3807Val)
|
|
|
|
NM_001035.3(RYR2):c.11432A>C (p.Gln3811Pro)
|
rs1553313890
|
|
|
NM_001035.3(RYR2):c.11433A>C (p.Gln3811His)
|
|
|
|
NM_001035.3(RYR2):c.11470G>T (p.Gly3824Ter)
|
rs2149277250
|
|
|
NM_001035.3(RYR2):c.11476+12_11476+37del
|
|
|
|
NM_001035.3(RYR2):c.1147A>G (p.Arg383Gly)
|
rs1707894005
|
|
|
NM_001035.3(RYR2):c.11503T>G (p.Phe3835Val)
|
|
|
|
NM_001035.3(RYR2):c.11515C>G (p.Leu3839Val)
|
|
|
|
NM_001035.3(RYR2):c.11528T>C (p.Leu3843Pro)
|
|
|
|
NM_001035.3(RYR2):c.11536C>T (p.Leu3846Phe)
|
rs1573882536
|
|
|
NM_001035.3(RYR2):c.11542G>A (p.Glu3848Lys)
|
rs1060500166
|
|
|
NM_001035.3(RYR2):c.1154G>A (p.Gly385Glu)
|
|
|
|
NM_001035.3(RYR2):c.11557+3T>C
|
|
|
|
NM_001035.3(RYR2):c.1156T>C (p.Ser386Pro)
|
|
|
|
NM_001035.3(RYR2):c.11588G>A (p.Gly3863Asp)
|
rs794728775
|
|
|
NM_001035.3(RYR2):c.11606A>G (p.Asn3869Ser)
|
rs1246024470
|
|
|
NM_001035.3(RYR2):c.11611A>G (p.Ile3871Val)
|
|
|
|
NM_001035.3(RYR2):c.11615T>C (p.Ile3872Thr)
|
rs2149314712
|
|
|
NM_001035.3(RYR2):c.11632C>G (p.Leu3878Val)
|
rs1694316783
|
|
|
NM_001035.3(RYR2):c.11639G>A (p.Arg3880Lys)
|
rs766515965
|
|
|
NM_001035.3(RYR2):c.11646+1G>T
|
rs2149314836
|
|
|
NM_001035.3(RYR2):c.1166G>C (p.Arg389Pro)
|
rs200685968
|
|
|
NM_001035.3(RYR2):c.11672A>G (p.Tyr3891Cys)
|
|
|
|
NM_001035.3(RYR2):c.11689G>C (p.Val3897Leu)
|
|
|
|
NM_001035.3(RYR2):c.1170+1G>C
|
rs1707898107
|
|
|
NM_001035.3(RYR2):c.11710C>T (p.Arg3904Trp)
|
rs998659755
|
|
|
NM_001035.3(RYR2):c.11711G>A (p.Arg3904Gln)
|
|
|
|
NM_001035.3(RYR2):c.11725G>A (p.Ala3909Thr)
|
|
|
|
NM_001035.3(RYR2):c.11756C>G (p.Thr3919Ser)
|
rs1694434184
|
|
|
NM_001035.3(RYR2):c.1175T>C (p.Ile392Thr)
|
rs1267247155
|
|
|
NM_001035.3(RYR2):c.11760del (p.Thr3921fs)
|
|
|
|
NM_001035.3(RYR2):c.11762C>G (p.Thr3921Arg)
|
|
|
|
NM_001035.3(RYR2):c.11765A>G (p.Glu3922Gly)
|
|
|
|
NM_001035.3(RYR2):c.11768A>G (p.Tyr3923Cys)
|
|
|
|
NM_001035.3(RYR2):c.11776-3C>T
|
|
|
|
NM_001035.3(RYR2):c.11779C>T (p.Pro3927Ser)
|
rs2149335295
|
|
|
NM_001035.3(RYR2):c.1177A>T (p.Met393Leu)
|
|
|
|
NM_001035.3(RYR2):c.11794C>A (p.Gln3932Lys)
|
rs2149335347
|
|
|
NM_001035.3(RYR2):c.1179G>A (p.Met393Ile)
|
rs80313920
|
|
|
NM_001035.3(RYR2):c.11800A>T (p.Ser3934Cys)
|
|
|
|
NM_001035.3(RYR2):c.11827G>A (p.Ala3943Thr)
|
rs762237329
|
|
|
NM_001035.3(RYR2):c.11833G>A (p.Val3945Ile)
|
|
|
|
NM_001035.3(RYR2):c.11848G>C (p.Val3950Leu)
|
|
|
|
NM_001035.3(RYR2):c.11880+3_11880+6del
|
rs1694864201
|
|
|
NM_001035.3(RYR2):c.11908G>T (p.Glu3970Ter)
|
rs2149344856
|
|
|
NM_001035.3(RYR2):c.11912_11915del (p.Leu3971fs)
|
|
|
|
NM_001035.3(RYR2):c.11916G>A (p.Met3972Ile)
|
rs1308840171
|
|
|
NM_001035.3(RYR2):c.11917G>T (p.Asp3973Tyr)
|
|
|
|
NM_001035.3(RYR2):c.11919T>G (p.Asp3973Glu)
|
rs370103782
|
|
|
NM_001035.3(RYR2):c.11920C>A (p.Leu3974Met)
|
|
|
|
NM_001035.3(RYR2):c.11928G>T (p.Lys3976Asn)
|
rs2149344926
|
|
|
NM_001035.3(RYR2):c.11939T>A (p.Val3980Asp)
|
rs1573923041
|
|
|
NM_001035.3(RYR2):c.11946G>T (p.Leu3982Phe)
|
rs2149344987
|
|
|
NM_001035.3(RYR2):c.11950T>C (p.Ser3984Pro)
|
rs1695118126
|
|
|
NM_001035.3(RYR2):c.11954_11957dup (p.Leu3986fs)
|
|
|
|
NM_001035.3(RYR2):c.1195A>G (p.Met399Val)
|
rs1708243371
|
|
|
NM_001035.3(RYR2):c.11962+1_11962+4dup
|
rs2149345025
|
|
|
NM_001035.3(RYR2):c.11963G>A (p.Gly3988Asp)
|
|
|
|
NM_001035.3(RYR2):c.11967T>G (p.Asn3989Lys)
|
rs2149351960
|
|
|
NM_001035.3(RYR2):c.11969T>C (p.Val3990Ala)
|
rs1210976038
|
|
|
NM_001035.3(RYR2):c.1196T>C (p.Met399Thr)
|
rs1708243535
|
|
|
NM_001035.3(RYR2):c.11971G>A (p.Val3991Ile)
|
|
|
|
NM_001035.3(RYR2):c.1197G>C (p.Met399Ile)
|
|
|
|
NM_001035.3(RYR2):c.11984T>C (p.Ile3995Thr)
|
|
|
|
NM_001035.3(RYR2):c.11986G>A (p.Gly3996Ser)
|
rs1060500160
|
|
|
NM_001035.3(RYR2):c.11992C>T (p.Gln3998Ter)
|
rs1558403704
|
|
|
NM_001035.3(RYR2):c.11G>T (p.Gly4Val)
|
rs866878858
|
|
|
NM_001035.3(RYR2):c.12001G>A (p.Asp4001Asn)
|
rs1553322501
|
|
|
NM_001035.3(RYR2):c.12001G>C (p.Asp4001His)
|
rs1553322501
|
|
|
NM_001035.3(RYR2):c.12014A>G (p.Glu4005Gly)
|
rs1695315832
|
|
|
NM_001035.3(RYR2):c.12022AAC[1] (p.Asn4009del)
|
rs1573931958
|
|
|
NM_001035.3(RYR2):c.12026A>G (p.Asn4009Ser)
|
rs1396528117
|
|
|
NM_001035.3(RYR2):c.12031G>A (p.Glu4011Lys)
|
rs771155451
|
|
|
NM_001035.3(RYR2):c.12080C>T (p.Thr4027Met)
|
|
|
|
NM_001035.3(RYR2):c.12106G>A (p.Asp4036Asn)
|
rs748216455
|
|
|
NM_001035.3(RYR2):c.12112G>A (p.Asp4038Asn)
|
|
|
|
NM_001035.3(RYR2):c.12116G>T (p.Gly4039Val)
|
rs749706996
|
|
|
NM_001035.3(RYR2):c.12139G>C (p.Asp4047His)
|
rs727505103
|
|
|
NM_001035.3(RYR2):c.12139G>T (p.Asp4047Tyr)
|
rs727505103
|
|
|
NM_001035.3(RYR2):c.12142T>G (p.Phe4048Val)
|
|
|
|
NM_001035.3(RYR2):c.12179A>G (p.Gln4060Arg)
|
|
|
|
NM_001035.3(RYR2):c.12209C>T (p.Ala4070Val)
|
|
|
|
NM_001035.3(RYR2):c.12214A>C (p.Thr4072Pro)
|
rs1558404448
|
|
|
NM_001035.3(RYR2):c.12235G>A (p.Asp4079Asn)
|
rs868071612
|
|
|
NM_001035.3(RYR2):c.12244G>C (p.Glu4082Gln)
|
rs774241742
|
|
|
NM_001035.3(RYR2):c.12245A>C (p.Glu4082Ala)
|
rs1057524762
|
|
|
NM_001035.3(RYR2):c.12249C>A (p.Phe4083Leu)
|
rs371599450
|
|
|
NM_001035.3(RYR2):c.12250G>A (p.Val4084Ile)
|
rs1695339297
|
|
|
NM_001035.3(RYR2):c.12265G>A (p.Glu4089Lys)
|
|
|
|
NM_001035.3(RYR2):c.12271_12272delinsAG (p.Ala4091Arg)
|
rs794728837
|
|
|
NM_001035.3(RYR2):c.12290A>G (p.Asn4097Ser)
|
rs794728784
|
|
|
NM_001035.3(RYR2):c.1229A>G (p.His410Arg)
|
|
|
|
NM_001035.3(RYR2):c.1231G>A (p.Glu411Lys)
|
rs866407992
|
|
|
NM_001035.3(RYR2):c.12320A>C (p.Glu4107Ala)
|
rs2149353356
|
|
|
NM_001035.3(RYR2):c.12320A>T (p.Glu4107Val)
|
|
|
|
NM_001035.3(RYR2):c.12325A>C (p.Met4109Leu)
|
rs730880196
|
|
|
NM_001035.3(RYR2):c.12326T>C (p.Met4109Thr)
|
rs1373714510
|
|
|
NM_001035.3(RYR2):c.12327G>T (p.Met4109Ile)
|
|
|
|
NM_001035.3(RYR2):c.12333C>G (p.Asn4111Lys)
|
|
|
|
NM_001035.3(RYR2):c.12344T>G (p.Leu4115Arg)
|
|
|
|
NM_001035.3(RYR2):c.12348G>T (p.Gln4116His)
|
rs2149353492
|
|
|
NM_001035.3(RYR2):c.12369G>T (p.Glu4123Asp)
|
rs759484925
|
|
|
NM_001035.3(RYR2):c.12385T>C (p.Phe4129Leu)
|
rs1573934226
|
|
|
NM_001035.3(RYR2):c.12385T>G (p.Phe4129Val)
|
rs1573934226
|
|
|
NM_001035.3(RYR2):c.12386del (p.Phe4129fs)
|
|
|
|
NM_001035.3(RYR2):c.12401G>C (p.Gly4134Ala)
|
rs1573934290
|
|
|
NM_001035.3(RYR2):c.12401G>T (p.Gly4134Val)
|
rs1573934290
|
|
|
NM_001035.3(RYR2):c.12404G>T (p.Arg4135Leu)
|
rs764202302
|
|
|
NM_001035.3(RYR2):c.12415A>G (p.Met4139Val)
|
rs1199657338
|
|
|
NM_001035.3(RYR2):c.1241G>T (p.Arg414Leu)
|
rs371121679
|
|
|
NM_001035.3(RYR2):c.12430C>T (p.Arg4144Cys)
|
rs1298823746
|
|
|
NM_001035.3(RYR2):c.12458G>C (p.Ser4153Thr)
|
rs999437630
|
|
|
NM_001035.3(RYR2):c.12458G>T (p.Ser4153Ile)
|
rs999437630
|
|
|
NM_001035.3(RYR2):c.12487C>G (p.Pro4163Ala)
|
|
|
|
NM_001035.3(RYR2):c.12494T>C (p.Val4165Ala)
|
|
|
|
NM_001035.3(RYR2):c.1249C>T (p.Arg417Ter)
|
rs564822776
|
|
|
NM_001035.3(RYR2):c.12510_12513dup (p.Phe4172fs)
|
rs1553322884
|
|
|
NM_001035.3(RYR2):c.12519A>G (p.Ile4173Met)
|
rs1553322892
|
|
|
NM_001035.3(RYR2):c.12521T>G (p.Phe4174Cys)
|
|
|
|
NM_001035.3(RYR2):c.12525C>A (p.Asp4175Glu)
|
rs1347472531
|
|
|
NM_001035.3(RYR2):c.12530T>A (p.Val4177Asp)
|
rs1553322906
|
|
|
NM_001035.3(RYR2):c.12530T>C (p.Val4177Ala)
|
rs1553322906
|
|
|
NM_001035.3(RYR2):c.12532A>T (p.Asn4178Tyr)
|
rs1481201233
|
|
|
NM_001035.3(RYR2):c.12535G>A (p.Glu4179Lys)
|
rs867488053
|
|
|
NM_001035.3(RYR2):c.12545A>C (p.Glu4182Ala)
|
rs794728788
|
|
|
NM_001035.3(RYR2):c.12549A>C (p.Lys4183Asn)
|
rs760519665
|
|
|
NM_001035.3(RYR2):c.12568G>A (p.Val4190Met)
|
rs1308975705
|
|
|
NM_001035.3(RYR2):c.12568G>C (p.Val4190Leu)
|
rs1308975705
|
|
|
NM_001035.3(RYR2):c.12569T>A (p.Val4190Glu)
|
rs1064794753
|
|
|
NM_001035.3(RYR2):c.12571A>G (p.Asn4191Asp)
|
|
|
|
NM_001035.3(RYR2):c.12574T>G (p.Phe4192Val)
|
|
|
|
NM_001035.3(RYR2):c.12580G>A (p.Glu4194Lys)
|
|
|
|
NM_001035.3(RYR2):c.12582G>A (p.Glu4194=)
|
rs2149354363
|
|
|
NM_001035.3(RYR2):c.12589A>G (p.Ile4197Val)
|
rs765238394
|
|
|
NM_001035.3(RYR2):c.12608C>T (p.Ala4203Val)
|
rs794728792
|
|
|
NM_001035.3(RYR2):c.12614A>G (p.Gln4205Arg)
|
|
|
|
NM_001035.3(RYR2):c.12620C>T (p.Ser4207Leu)
|
rs2149354495
|
|
|
NM_001035.3(RYR2):c.12637G>A (p.Glu4213Lys)
|
rs1695373966
|
|
|
NM_001035.3(RYR2):c.12647C>A (p.Ala4216Glu)
|
|
|
|
NM_001035.3(RYR2):c.1264A>G (p.Thr422Ala)
|
rs1350054663
|
|
|
NM_001035.3(RYR2):c.12655G>A (p.Glu4219Lys)
|
rs1417926762
|
|
|
NM_001035.3(RYR2):c.12667A>G (p.Lys4223Glu)
|
|
|
|
NM_001035.3(RYR2):c.12667_12669del (p.Lys4223del)
|
rs794728838
|
|
|
NM_001035.3(RYR2):c.12679G>A (p.Glu4227Lys)
|
rs2149354765
|
|
|
NM_001035.3(RYR2):c.12682G>A (p.Glu4228Lys)
|
|
|
|
NM_001035.3(RYR2):c.12692C>A (p.Pro4231Gln)
|
rs1321340277
|
|
|
NM_001035.3(RYR2):c.12692dup (p.Arg4232fs)
|
|
|
|
NM_001035.3(RYR2):c.12697A>G (p.Met4233Val)
|
rs2149354852
|
|
|
NM_001035.3(RYR2):c.12718A>G (p.Thr4240Ala)
|
|
|
|
NM_001035.3(RYR2):c.12720G>A (p.Thr4240=)
|
rs774851947
|
|
|
NM_001035.3(RYR2):c.12730G>T (p.Ala4244Ser)
|
|
|
|
NM_001035.3(RYR2):c.12745A>T (p.Arg4249Trp)
|
rs1695385129
|
|
|
NM_001035.3(RYR2):c.12773T>C (p.Met4258Thr)
|
|
|
|
NM_001035.3(RYR2):c.12775C>T (p.Leu4259Phe)
|
|
|
|
NM_001035.3(RYR2):c.12785A>G (p.Lys4262Arg)
|
|
|
|
NM_001035.3(RYR2):c.12791T>G (p.Leu4264Arg)
|
rs2149355228
|
|
|
NM_001035.3(RYR2):c.1280A>G (p.Asn427Ser)
|
rs753007912
|
|
|
NM_001035.3(RYR2):c.12857C>G (p.Ser4286Cys)
|
rs2149355491
|
|
|
NM_001035.3(RYR2):c.12861C>G (p.Tyr4287Ter)
|
rs570414987
|
|
|
NM_001035.3(RYR2):c.12874A>G (p.Met4292Val)
|
|
|
|
NM_001035.3(RYR2):c.12880C>T (p.Leu4294Phe)
|
|
|
|
NM_001035.3(RYR2):c.12892G>A (p.Val4298Met)
|
rs745927659
|
|
|
NM_001035.3(RYR2):c.12893T>C (p.Val4298Ala)
|
rs984942880
|
|
|
NM_001035.3(RYR2):c.12898_12909del (p.Ser4300_Arg4303del)
|
|
|
|
NM_001035.3(RYR2):c.12901G>A (p.Val4301Ile)
|
rs772007722
|
|
|
NM_001035.3(RYR2):c.1292+3A>G
|
rs1572361996
|
|
|
NM_001035.3(RYR2):c.1292+4C>A
|
|
|
|
NM_001035.3(RYR2):c.12931A>C (p.Ser4311Arg)
|
rs2149355805
|
|
|
NM_001035.3(RYR2):c.12946_12947del (p.Gly4316fs)
|
rs2149355859
|
|
|
NM_001035.3(RYR2):c.12947G>T (p.Gly4316Val)
|
rs1471117005
|
|
|
NM_001035.3(RYR2):c.12950G>T (p.Ser4317Ile)
|
|
|
|
NM_001035.3(RYR2):c.12960A>T (p.Glu4320Asp)
|
|
|
|
NM_001035.3(RYR2):c.12962G>T (p.Gly4321Val)
|
|
|
|
NM_001035.3(RYR2):c.12972G>T (p.Lys4324Asn)
|
|
|
|
NM_001035.3(RYR2):c.12980T>A (p.Val4327Asp)
|
|
|
|
NM_001035.3(RYR2):c.12980T>C (p.Val4327Ala)
|
|
|
|
NM_001035.3(RYR2):c.12997A>G (p.Asn4333Asp)
|
rs371680410
|
|
|
NM_001035.3(RYR2):c.129C>T (p.Gly43=)
|
rs749566745
|
|
|
NM_001035.3(RYR2):c.13002G>A (p.Met4334Ile)
|
|
|
|
NM_001035.3(RYR2):c.13009C>A (p.Pro4337Thr)
|
|
|
|
NM_001035.3(RYR2):c.1300G>A (p.Asp434Asn)
|
rs1658551806
|
|
|
NM_001035.3(RYR2):c.13012A>G (p.Thr4338Ala)
|
|
|
|
NM_001035.3(RYR2):c.13012A>T (p.Thr4338Ser)
|
|
|
|
NM_001035.3(RYR2):c.13018G>A (p.Asp4340Asn)
|
|
|
|
NM_001035.3(RYR2):c.13031G>A (p.Gly4344Glu)
|
|
|
|
NM_001035.3(RYR2):c.13044G>T (p.Glu4348Asp)
|
rs559197657
|
|
|
NM_001035.3(RYR2):c.13049A>G (p.Glu4350Gly)
|
|
|
|
NM_001035.3(RYR2):c.13057C>G (p.Pro4353Ala)
|
|
|
|
NM_001035.3(RYR2):c.13067C>T (p.Ala4356Val)
|
rs981875785
|
|
|
NM_001035.3(RYR2):c.13078T>G (p.Ser4360Ala)
|
rs1420181587
|
|
|
NM_001035.3(RYR2):c.13081G>C (p.Glu4361Gln)
|
|
|
|
NM_001035.3(RYR2):c.1309A>G (p.Ser437Gly)
|
rs1658552670
|
|
|
NM_001035.3(RYR2):c.13100A>G (p.Lys4367Arg)
|
rs2149356442
|
|
|
NM_001035.3(RYR2):c.13114G>A (p.Glu4372Lys)
|
rs1294591565
|
|
|
NM_001035.3(RYR2):c.13120G>A (p.Asp4374Asn)
|
|
|
|
NM_001035.3(RYR2):c.13130C>T (p.Ser4377Leu)
|
rs869025514
|
|
|
NM_001035.3(RYR2):c.13163G>A (p.Gly4388Glu)
|
rs1695420157
|
|
|
NM_001035.3(RYR2):c.13169A>G (p.Gln4390Arg)
|
rs763987225
|
|
|
NM_001035.3(RYR2):c.1316A>C (p.Lys439Thr)
|
rs1658553532
|
|
|
NM_001035.3(RYR2):c.13184C>T (p.Pro4395Leu)
|
rs1695422438
|
|
|
NM_001035.3(RYR2):c.13187A>G (p.His4396Arg)
|
rs1060500161
|
|
|
NM_001035.3(RYR2):c.13202G>A (p.Gly4401Glu)
|
|
|
|
NM_001035.3(RYR2):c.13218G>A (p.Met4406Ile)
|
|
|
|
NM_001035.3(RYR2):c.13224C>G (p.Asn4408Lys)
|
|
|
|
NM_001035.3(RYR2):c.13229T>C (p.Val4410Ala)
|
rs748604898
|
|
|
NM_001035.3(RYR2):c.13234A>C (p.Met4412Leu)
|
rs2149356919
|
|
|
NM_001035.3(RYR2):c.13234A>G (p.Met4412Val)
|
rs2149356919
|
|
|
NM_001035.3(RYR2):c.1324G>C (p.Ala442Pro)
|
rs747344666
|
|
|
NM_001035.3(RYR2):c.13260+14_13260+15delinsGG
|
|
|
|
NM_001035.3(RYR2):c.13264C>T (p.Gln4422Ter)
|
|
|
|
NM_001035.3(RYR2):c.13273A>G (p.Lys4425Glu)
|
rs2149359920
|
|
|
NM_001035.3(RYR2):c.13276GAA[2] (p.Glu4428del)
|
rs869025516
|
|
|
NM_001035.3(RYR2):c.13279G>A (p.Glu4427Lys)
|
rs1695516581
|
|
|
NM_001035.3(RYR2):c.13280A>T (p.Glu4427Val)
|
|
|
|
NM_001035.3(RYR2):c.13288G>A (p.Glu4430Lys)
|
rs2149359974
|
|
|
NM_001035.3(RYR2):c.13312G>C (p.Glu4438Gln)
|
|
|
|
NM_001035.3(RYR2):c.13315C>T (p.Pro4439Ser)
|
|
|
|
NM_001035.3(RYR2):c.13325C>T (p.Ala4442Val)
|
rs1553324230
|
|
|
NM_001035.3(RYR2):c.13328+4T>C
|
rs1356215434
|
|
|
NM_001035.3(RYR2):c.13337A>G (p.Asp4446Gly)
|
rs2149367007
|
|
|
NM_001035.3(RYR2):c.13347AGA[4] (p.Glu4450_Glu4451dup)
|
rs2149367035
|
|
|
NM_001035.3(RYR2):c.1334T>C (p.Val445Ala)
|
|
|
|
NM_001035.3(RYR2):c.13357G>C (p.Ala4453Pro)
|
rs1573952018
|
|
|
NM_001035.3(RYR2):c.13358_13366del (p.Ala4453_Glu4455del)
|
|
|
|
NM_001035.3(RYR2):c.13361A>C (p.Lys4454Thr)
|
rs1485986182
|
|
|
NM_001035.3(RYR2):c.1336G>A (p.Asp446Asn)
|
rs748867973
|
|
|
NM_001035.3(RYR2):c.1336G>T (p.Asp446Tyr)
|
|
|
|
NM_001035.3(RYR2):c.13372G>C (p.Gly4458Arg)
|
|
|
|
NM_001035.3(RYR2):c.13376A>T (p.Lys4459Ile)
|
|
|
|
NM_001035.3(RYR2):c.13400C>T (p.Thr4467Ile)
|
rs933184477
|
|
|
NM_001035.3(RYR2):c.13406G>A (p.Arg4469Lys)
|
rs759882217
|
|
|
NM_001035.3(RYR2):c.13412G>C (p.Gly4471Ala)
|
rs1553325274
|
|
|
NM_001035.3(RYR2):c.13417C>A (p.Pro4473Thr)
|
rs571824543
|
|
|
NM_001035.3(RYR2):c.13426C>T (p.Pro4476Ser)
|
rs1277251368
|
|
|
NM_001035.3(RYR2):c.13448A>C (p.Lys4483Thr)
|
|
|
|
NM_001035.3(RYR2):c.13450_13453dup (p.Ile4485fs)
|
|
|
|
NM_001035.3(RYR2):c.13465C>A (p.Gln4489Lys)
|
rs1657881640
|
|
|
NM_001035.3(RYR2):c.13475T>C (p.Leu4492Pro)
|
|
|
|
NM_001035.3(RYR2):c.13476+6A>T
|
rs1457866950
|
|
|
NM_001035.3(RYR2):c.13490G>A (p.Arg4497His)
|
rs867681818
|
|
|
NM_001035.3(RYR2):c.13496_13501del (p.Phe4499_Asn4501delinsTyr)
|
rs2149379033
|
|
|
NM_001035.3(RYR2):c.13498T>C (p.Tyr4500His)
|
rs2149379050
|
|
|
NM_001035.3(RYR2):c.13499A>C (p.Tyr4500Ser)
|
rs1658370845
|
|
|
NM_001035.3(RYR2):c.13510A>C (p.Met4504Leu)
|
|
|
|
NM_001035.3(RYR2):c.13520T>C (p.Leu4507Ser)
|
rs794728798
|
|
|
NM_001035.3(RYR2):c.13528G>C (p.Ala4510Pro)
|
rs397516510
|
|
|
NM_001035.3(RYR2):c.13541A>G (p.Asn4514Ser)
|
rs397516511
|
|
|
NM_001035.3(RYR2):c.13564-17T>C
|
|
|
|
NM_001035.3(RYR2):c.13569C>T (p.Ser4523=)
|
|
|
|
NM_001035.3(RYR2):c.13571C>T (p.Thr4524Ile)
|
|
|
|
NM_001035.3(RYR2):c.13573TCT[1] (p.Ser4526del)
|
rs749495172
|
|
|
NM_001035.3(RYR2):c.1357A>T (p.Ser453Cys)
|
rs1259104446
|
|
|
NM_001035.3(RYR2):c.13590A>T (p.Gly4530=)
|
|
|
|
NM_001035.3(RYR2):c.13597C>T (p.Leu4533Phe)
|
|
|
|
NM_001035.3(RYR2):c.13598T>C (p.Leu4533Pro)
|
rs761272973
|
|
|
NM_001035.3(RYR2):c.13604C>G (p.Thr4535Arg)
|
rs756839134
|
|
|
NM_001035.3(RYR2):c.13617T>G (p.Ser4539Arg)
|
rs1553327067
|
|
|
NM_001035.3(RYR2):c.13625C>G (p.Ala4542Gly)
|
|
|
|
NM_001035.3(RYR2):c.13630G>A (p.Val4544Met)
|
rs1235379196
|
|
|
NM_001035.3(RYR2):c.13643A>G (p.Asp4548Gly)
|
|
|
|
NM_001035.3(RYR2):c.13657A>G (p.Arg4553Gly)
|
|
|
|
NM_001035.3(RYR2):c.13666G>C (p.Ala4556Pro)
|
rs189345192
|
|
|
NM_001035.3(RYR2):c.13666G>T (p.Ala4556Ser)
|
rs189345192
|
|
|
NM_001035.3(RYR2):c.13672C>G (p.His4558Asp)
|
|
|
|
NM_001035.3(RYR2):c.13687G>C (p.Glu4563Gln)
|
|
|
|
NM_001035.3(RYR2):c.13689G>T (p.Glu4563Asp)
|
rs886039157
|
|
|
NM_001035.3(RYR2):c.13693A>G (p.Ser4565Gly)
|
rs2149381504
|
|
|
NM_001035.3(RYR2):c.13695C>A (p.Ser4565Arg)
|
|
|
|
NM_001035.3(RYR2):c.136C>A (p.Leu46Ile)
|
rs200643211
|
|
|
NM_001035.3(RYR2):c.13707G>C (p.Glu4569Asp)
|
|
|
|
NM_001035.3(RYR2):c.13711A>G (p.Thr4571Ala)
|
|
|
|
NM_001035.3(RYR2):c.13720A>T (p.Ile4574Phe)
|
|
|
|
NM_001035.3(RYR2):c.1372G>T (p.Asp458Tyr)
|
|
|
|
NM_001035.3(RYR2):c.13739C>T (p.Thr4580Met)
|
rs1658469199
|
|
|
NM_001035.3(RYR2):c.1375C>G (p.Leu459Val)
|
rs1658563996
|
|
|
NM_001035.3(RYR2):c.13771T>C (p.Tyr4591His)
|
|
|
|
NM_001035.3(RYR2):c.13774T>C (p.Cys4592Arg)
|
rs1193389004
|
|
|
NM_001035.3(RYR2):c.13778T>C (p.Leu4593Ser)
|
rs1558424746
|
|
|
NM_001035.3(RYR2):c.13782+7T>C
|
|
|
|
NM_001035.3(RYR2):c.13783-2A>G
|
rs1553328145
|
|
|
NM_001035.3(RYR2):c.13783-6_13783-5delinsGC
|
|
|
|
NM_001035.3(RYR2):c.13783-9C>G
|
rs1414090080
|
|
|
NM_001035.3(RYR2):c.13783G>A (p.Val4595Ile)
|
rs1430303714
|
|
|
NM_001035.3(RYR2):c.1379T>C (p.Ile460Thr)
|
|
|
|
NM_001035.3(RYR2):c.13805G>A (p.Arg4602Gln)
|
rs1553328160
|
|
|
NM_001035.3(RYR2):c.13810A>G (p.Lys4604Glu)
|
rs1658760152
|
|
|
NM_001035.3(RYR2):c.1385A>C (p.Tyr462Ser)
|
rs2150217492
|
|
|
NM_001035.3(RYR2):c.13888T>G (p.Trp4630Gly)
|
|
|
|
NM_001035.3(RYR2):c.13897C>G (p.Leu4633Val)
|
rs1484013155
|
|
|
NM_001035.3(RYR2):c.13897C>T (p.Leu4633Phe)
|
|
|
|
NM_001035.3(RYR2):c.13901T>A (p.Val4634Glu)
|
|
|
|
NM_001035.3(RYR2):c.13901T>C (p.Val4634Ala)
|
rs1384324063
|
|
|
NM_001035.3(RYR2):c.13904_13906del (p.Ile4635del)
|
|
|
|
NM_001035.3(RYR2):c.13912C>T (p.Gln4638Ter)
|
|
|
|
NM_001035.3(RYR2):c.13924A>G (p.Asn4642Asp)
|
rs865812612
|
|
|
NM_001035.3(RYR2):c.13924AAC[1] (p.Asn4643del)
|
|
|
|
NM_001035.3(RYR2):c.13930T>G (p.Tyr4644Asp)
|
rs2149392507
|
|
|
NM_001035.3(RYR2):c.13937A>C (p.Asp4646Ala)
|
rs1658967336
|
|
|
NM_001035.3(RYR2):c.13938C>A (p.Asp4646Glu)
|
|
|
|
NM_001035.3(RYR2):c.13966A>C (p.Lys4656Gln)
|
|
|
|
NM_001035.3(RYR2):c.1397C>G (p.Pro466Arg)
|
rs967199869
|
|
|
NM_001035.3(RYR2):c.1397C>T (p.Pro466Leu)
|
|
|
|
NM_001035.3(RYR2):c.13984G>C (p.Gly4662Arg)
|
rs886039213
|
|
|
NM_001035.3(RYR2):c.13985G>T (p.Gly4662Val)
|
|
|
|
NM_001035.3(RYR2):c.13987C>G (p.Arg4663Gly)
|
|
|
|
NM_001035.3(RYR2):c.13988G>A (p.Arg4663Gln)
|
|
|
|
NM_001035.3(RYR2):c.14000G>T (p.Ser4667Ile)
|
rs1057523888
|
|
|
NM_001035.3(RYR2):c.14008C>G (p.Leu4670Val)
|
|
|
|
NM_001035.3(RYR2):c.14008C>T (p.Leu4670Phe)
|
rs775408548
|
|
|
NM_001035.3(RYR2):c.14012G>T (p.Gly4671Val)
|
rs1420186189
|
|
|
NM_001035.3(RYR2):c.1401T>A (p.Asp467Glu)
|
rs1658569816
|
|
|
NM_001035.3(RYR2):c.14021A>T (p.Lys4674Met)
|
|
|
|
NM_001035.3(RYR2):c.14048_14049delinsAT (p.Arg4683Asn)
|
rs1558439258
|
|
|
NM_001035.3(RYR2):c.14053AAG[2] (p.Lys4687del)
|
rs1245102430
|
|
|
NM_001035.3(RYR2):c.14055G>C (p.Lys4685Asn)
|
|
|
|
NM_001035.3(RYR2):c.14057A>C (p.Lys4686Thr)
|
rs2149404469
|
|
|
NM_001035.3(RYR2):c.14068A>G (p.Lys4690Glu)
|
rs912687349
|
|
|
NM_001035.3(RYR2):c.14073C>A (p.Asp4691Glu)
|
|
|
|
NM_001035.3(RYR2):c.14074A>G (p.Ser4692Gly)
|
rs1659497202
|
|
|
NM_001035.3(RYR2):c.14078C>T (p.Ser4693Phe)
|
|
|
|
NM_001035.3(RYR2):c.14080T>G (p.Leu4694Val)
|
rs2149404631
|
|
|
NM_001035.3(RYR2):c.14083T>C (p.Ser4695Pro)
|
|
|
|
NM_001035.3(RYR2):c.1408T>G (p.Leu470Val)
|
|
|
|
NM_001035.3(RYR2):c.14090+1G>T
|
rs770329524
|
|
|
NM_001035.3(RYR2):c.14090T>C (p.Val4697Ala)
|
|
|
|
NM_001035.3(RYR2):c.14091-5T>G
|
rs1048452537
|
|
|
NM_001035.3(RYR2):c.14093T>C (p.Leu4698Pro)
|
rs1553332764
|
|
|
NM_001035.3(RYR2):c.14102T>C (p.Ile4701Thr)
|
rs2149419516
|
|
|
NM_001035.3(RYR2):c.14111A>G (p.Lys4704Arg)
|
|
|
|
NM_001035.3(RYR2):c.14112G>T (p.Lys4704Asn)
|
|
|
|
NM_001035.3(RYR2):c.14121G>A (p.Met4707Ile)
|
rs1660018312
|
|
|
NM_001035.3(RYR2):c.14122T>G (p.Trp4708Gly)
|
rs397516513
|
|
|
NM_001035.3(RYR2):c.14129T>C (p.Leu4710Pro)
|
rs1574013352
|
|
|
NM_001035.3(RYR2):c.14131G>A (p.Gly4711Arg)
|
rs1660019000
|
|
|
NM_001035.3(RYR2):c.14132G>A (p.Gly4711Glu)
|
|
|
|
NM_001035.3(RYR2):c.14137G>A (p.Val4713Ile)
|
|
|
|
NM_001035.3(RYR2):c.14148C>A (p.Asp4716Glu)
|
rs778193795
|
|
|
NM_001035.3(RYR2):c.14151+4A>G
|
rs2149419707
|
|
|
NM_001035.3(RYR2):c.14151+6C>T
|
|
|
|
NM_001035.3(RYR2):c.14152-8C>G
|
rs1660611538
|
|
|
NM_001035.3(RYR2):c.14162A>T (p.Tyr4721Phe)
|
rs1660612939
|
|
|
NM_001035.3(RYR2):c.14176A>G (p.Met4726Val)
|
rs2149437486
|
|
|
NM_001035.3(RYR2):c.14184G>A (p.Met4728Ile)
|
|
|
|
NM_001035.3(RYR2):c.14198A>G (p.His4733Arg)
|
|
|
|
NM_001035.3(RYR2):c.14201A>G (p.Tyr4734Cys)
|
rs1660616083
|
|
|
NM_001035.3(RYR2):c.14204A>T (p.Asn4735Ile)
|
|
|
|
NM_001035.3(RYR2):c.14217dup (p.Ala4740fs)
|
rs749201569
|
|
|
NM_001035.3(RYR2):c.14221G>A (p.Ala4741Thr)
|
rs2149437588
|
|
|
NM_001035.3(RYR2):c.14222C>T (p.Ala4741Val)
|
rs2149437594
|
|
|
NM_001035.3(RYR2):c.14224C>T (p.His4742Tyr)
|
rs1358033974
|
|
|
NM_001035.3(RYR2):c.14238_14243del (p.Ile4746_Ala4747del)
|
rs1660618834
|
|
|
NM_001035.3(RYR2):c.14246G>T (p.Gly4749Val)
|
rs1558457775
|
|
|
NM_001035.3(RYR2):c.14264C>A (p.Thr4755Asn)
|
rs1553334770
|
|
|
NM_001035.3(RYR2):c.14264C>T (p.Thr4755Ile)
|
rs1553334770
|
|
|
NM_001035.3(RYR2):c.14278G>A (p.Val4760Ile)
|
rs794728831
|
|
|
NM_001035.3(RYR2):c.14284C>T (p.His4762Tyr)
|
|
|
|
NM_001035.3(RYR2):c.1428G>T (p.Gln476His)
|
rs1281984170
|
|
|
NM_001035.3(RYR2):c.14299-3C>T
|
rs2149446318
|
|
|
NM_001035.3(RYR2):c.14332G>A (p.Val4778Ile)
|
rs1060500151
|
|
|
NM_001035.3(RYR2):c.14332G>T (p.Val4778Leu)
|
rs1060500151
|
|
|
NM_001035.3(RYR2):c.14338C>G (p.Leu4780Val)
|
|
|
|
NM_001035.3(RYR2):c.14342A>G (p.Tyr4781Cys)
|
rs2149446480
|
|
|
NM_001035.3(RYR2):c.14347G>T (p.Val4783Leu)
|
rs2149446503
|
|
|
NM_001035.3(RYR2):c.14369G>T (p.Arg4790Leu)
|
|
|
|
NM_001035.3(RYR2):c.14372A>C (p.Lys4791Thr)
|
|
|
|
NM_001035.3(RYR2):c.14383A>G (p.Lys4795Glu)
|
rs1558462911
|
|
|
NM_001035.3(RYR2):c.14403_14404del (p.Pro4802fs)
|
|
|
|
NM_001035.3(RYR2):c.14405C>T (p.Pro4802Leu)
|
rs1660968129
|
|
|
NM_001035.3(RYR2):c.14433+5G>A
|
|
|
|
NM_001035.3(RYR2):c.14450T>G (p.Met4817Arg)
|
|
|
|
NM_001035.3(RYR2):c.14464C>T (p.Arg4822Cys)
|
|
|
|
NM_001035.3(RYR2):c.14465G>A (p.Arg4822His)
|
rs794728805
|
|
|
NM_001035.3(RYR2):c.14465G>T (p.Arg4822Leu)
|
|
|
|
NM_001035.3(RYR2):c.14477G>A (p.Gly4826Glu)
|
rs1662149581
|
|
|
NM_001035.3(RYR2):c.14494G>A (p.Glu4832Lys)
|
rs1443988544
|
|
|
NM_001035.3(RYR2):c.14522T>C (p.Ile4841Thr)
|
|
|
|
NM_001035.3(RYR2):c.1452T>A (p.Asn484Lys)
|
rs1195833247
|
|
|
NM_001035.3(RYR2):c.1453C>T (p.Arg485Trp)
|
rs766420655
|
|
|
NM_001035.3(RYR2):c.14546C>T (p.Thr4849Ile)
|
rs2102825501
|
|
|
NM_001035.3(RYR2):c.14550CTT[2] (p.Phe4853del)
|
|
|
|
NM_001035.3(RYR2):c.14556_14559del (p.Phe4852fs)
|
rs2102825624
|
|
|
NM_001035.3(RYR2):c.14563A>G (p.Ile4855Val)
|
|
|
|
NM_001035.3(RYR2):c.14564T>C (p.Ile4855Thr)
|
rs2102825699
|
|
|
NM_001035.3(RYR2):c.14569A>G (p.Ile4857Val)
|
rs1085307524
|
|
|
NM_001035.3(RYR2):c.14577G>A (p.Leu4859=)
|
rs1662156109
|
|
|
NM_001035.3(RYR2):c.14579C>G (p.Ala4860Gly)
|
rs121918606
|
|
|
NM_001035.3(RYR2):c.14590+3A>G
|
rs756787746
|
|
|
NM_001035.3(RYR2):c.14590+4A>G
|
|
|
|
NM_001035.3(RYR2):c.14590+6T>C
|
|
|
|
NM_001035.3(RYR2):c.14599A>G (p.Ile4867Val)
|
rs2102926200
|
|
|
NM_001035.3(RYR2):c.14602G>A (p.Asp4868Asn)
|
rs1663399787
|
|
|
NM_001035.3(RYR2):c.14602G>T (p.Asp4868Tyr)
|
rs1663399787
|
|
|
NM_001035.3(RYR2):c.14604T>A (p.Asp4868Glu)
|
|
|
|
NM_001035.3(RYR2):c.14604T>G (p.Asp4868Glu)
|
|
|
|
NM_001035.3(RYR2):c.14609T>C (p.Phe4870Ser)
|
|
|
|
NM_001035.3(RYR2):c.14647G>T (p.Asp4883Tyr)
|
rs868808156
|
|
|
NM_001035.3(RYR2):c.14651T>C (p.Met4884Thr)
|
|
|
|
NM_001035.3(RYR2):c.14651T>G (p.Met4884Arg)
|
rs2102926629
|
|
|
NM_001035.3(RYR2):c.14656A>G (p.Thr4886Ala)
|
|
|
|
NM_001035.3(RYR2):c.14674G>A (p.Gly4892Arg)
|
|
|
|
NM_001035.3(RYR2):c.14679A>G (p.Ile4893Met)
|
|
|
|
NM_001035.3(RYR2):c.14692T>G (p.Phe4898Val)
|
|
|
|
NM_001035.3(RYR2):c.14701G>A (p.Val4901Met)
|
rs2102947130
|
|
|
NM_001035.3(RYR2):c.14709T>A (p.His4903Gln)
|
|
|
|
NM_001035.3(RYR2):c.14718A>C (p.Glu4906Asp)
|
rs1553342497
|
|
|
NM_001035.3(RYR2):c.1471G>A (p.Glu491Lys)
|
rs1658580412
|
|
|
NM_001035.3(RYR2):c.14746G>A (p.Ala4916Thr)
|
rs1663665510
|
|
|
NM_001035.3(RYR2):c.1476+4C>A
|
rs369442980
|
|
|
NM_001035.3(RYR2):c.14773C>G (p.Leu4925Val)
|
|
|
|
NM_001035.3(RYR2):c.14809-1G>A
|
rs2102967720
|
|
|
NM_001035.3(RYR2):c.14813C>T (p.Ser4938Phe)
|
rs2102967780
|
|
|
NM_001035.3(RYR2):c.1483A>T (p.Ile495Phe)
|
|
|
|
NM_001035.3(RYR2):c.14848G>C (p.Glu4950Gln)
|
rs886039172
|
|
|
NM_001035.3(RYR2):c.14868_14878del (p.Asp4956fs)
|
|
|
|
NM_001035.3(RYR2):c.14881C>G (p.Gln4961Glu)
|
|
|
|
NM_001035.3(RYR2):c.14881C>T (p.Gln4961Ter)
|
rs1574134528
|
|
|
NM_001035.3(RYR2):c.14887G>A (p.Glu4963Lys)
|
|
|
|
NM_001035.3(RYR2):c.14893C>G (p.Gln4965Glu)
|
rs1663933692
|
|
|
NM_001035.3(RYR2):c.14904_*1dup (p.Ter4968=)
|
rs777179393
|
|
|
NM_001035.3(RYR2):c.14G>A (p.Gly5Asp)
|
rs1660034518
|
|
|
NM_001035.3(RYR2):c.1501T>G (p.Cys501Gly)
|
rs969500202
|
|
|
NM_001035.3(RYR2):c.1510C>T (p.Arg504Cys)
|
rs373502556
|
|
|
NM_001035.3(RYR2):c.1537del (p.His513fs)
|
|
|
|
NM_001035.3(RYR2):c.1565_1567del (p.Ala522del)
|
rs1658864172
|
|
|
NM_001035.3(RYR2):c.157T>G (p.Ser53Ala)
|
|
|
|
NM_001035.3(RYR2):c.1583C>T (p.Ser528Phe)
|
rs867134734
|
|
|
NM_001035.3(RYR2):c.1597_1602del (p.Leu533_Tyr534del)
|
|
|
|
NM_001035.3(RYR2):c.1601A>G (p.Tyr534Cys)
|
rs1572409976
|
|
|
NM_001035.3(RYR2):c.1604A>G (p.Glu535Gly)
|
rs869025509
|
|
|
NM_001035.3(RYR2):c.1615G>A (p.Ala539Thr)
|
rs2150301097
|
|
|
NM_001035.3(RYR2):c.1618C>A (p.Leu540Ile)
|
|
|
|
NM_001035.3(RYR2):c.161A>G (p.Asn54Ser)
|
|
|
|
NM_001035.3(RYR2):c.1631A>G (p.Asn544Ser)
|
|
|
|
NM_001035.3(RYR2):c.1633C>G (p.Arg545Gly)
|
rs1660399641
|
|
|
NM_001035.3(RYR2):c.1634G>A (p.Arg545His)
|
|
|
|
NM_001035.3(RYR2):c.1637A>G (p.Lys546Arg)
|
rs1660400133
|
|
|
NM_001035.3(RYR2):c.1639A>C (p.Asn547His)
|
|
|
|
NM_001035.3(RYR2):c.1641C>A (p.Asn547Lys)
|
rs794728722
|
|
|
NM_001035.3(RYR2):c.1643G>A (p.Cys548Tyr)
|
rs1660401182
|
|
|
NM_001035.3(RYR2):c.1655C>T (p.Ser552Phe)
|
rs1660402614
|
|
|
NM_001035.3(RYR2):c.1661C>A (p.Ser554Tyr)
|
|
|
|
NM_001035.3(RYR2):c.1666G>A (p.Asp556Asn)
|
|
|
|
NM_001035.3(RYR2):c.1677C>G (p.Ile559Met)
|
|
|
|
NM_001035.3(RYR2):c.1678A>G (p.Ser560Gly)
|
rs759121593
|
|
|
NM_001035.3(RYR2):c.168+4G>A
|
rs1689584784
|
|
|
NM_001035.3(RYR2):c.1712T>A (p.Ile571Asn)
|
rs886046263
|
|
|
NM_001035.3(RYR2):c.1719del (p.Val574fs)
|
|
|
|
NM_001035.3(RYR2):c.1727A>G (p.His576Arg)
|
rs794728818
|
|
|
NM_001035.3(RYR2):c.1738G>T (p.Val580Leu)
|
rs1572569244
|
|
|
NM_001035.3(RYR2):c.1771G>C (p.Glu591Gln)
|
|
|
|
NM_001035.3(RYR2):c.1772A>G (p.Glu591Gly)
|
|
|
|
NM_001035.3(RYR2):c.1784A>G (p.Lys595Arg)
|
rs1370136013
|
|
|
NM_001035.3(RYR2):c.1789A>T (p.Ile597Phe)
|
|
|
|
NM_001035.3(RYR2):c.178C>T (p.Pro60Ser)
|
rs1696641342
|
|
|
NM_001035.3(RYR2):c.1792A>G (p.Ile598Val)
|
|
|
|
NM_001035.3(RYR2):c.1798C>G (p.Leu600Val)
|
|
|
|
NM_001035.3(RYR2):c.1799T>A (p.Leu600His)
|
|
|
|
NM_001035.3(RYR2):c.1803del (p.Asp602fs)
|
rs2150413242
|
|
|
NM_001035.3(RYR2):c.1832T>C (p.Leu611Pro)
|
rs794728726
|
|
|
NM_001035.3(RYR2):c.1837G>A (p.Val613Ile)
|
rs397516520
|
|
|
NM_001035.3(RYR2):c.1842G>T (p.Leu614Phe)
|
rs1227994309
|
|
|
NM_001035.3(RYR2):c.1844G>T (p.Cys615Phe)
|
rs748190200
|
|
|
NM_001035.3(RYR2):c.184C>T (p.Leu62Phe)
|
rs794728813
|
|
|
NM_001035.3(RYR2):c.1867G>C (p.Val623Leu)
|
|
|
|
NM_001035.3(RYR2):c.1870G>A (p.Ala624Thr)
|
rs1663584680
|
|
|
NM_001035.3(RYR2):c.1871C>T (p.Ala624Val)
|
rs878854153
|
|
|
NM_001035.3(RYR2):c.1877G>A (p.Arg626His)
|
|
|
|
NM_001035.3(RYR2):c.1880C>G (p.Ser627Cys)
|
|
|
|
NM_001035.3(RYR2):c.1888C>T (p.His630Tyr)
|
|
|
|
NM_001035.3(RYR2):c.1894A>G (p.Ile632Val)
|
|
|
|
NM_001035.3(RYR2):c.1906C>A (p.Leu636Ile)
|
rs2150421908
|
|
|
NM_001035.3(RYR2):c.1918A>G (p.Arg640Gly)
|
rs886041109
|
|
|
NM_001035.3(RYR2):c.191T>G (p.Ile64Ser)
|
rs2149567963
|
|
|
NM_001035.3(RYR2):c.1921G>A (p.Asp641Asn)
|
|
|
|
NM_001035.3(RYR2):c.1941del (p.Leu648_Val649insTer)
|
|
|
|
NM_001035.3(RYR2):c.1946T>C (p.Val649Ala)
|
|
|
|
NM_001035.3(RYR2):c.1962C>T (p.Ser654=)
|
rs1664091413
|
|
|
NM_001035.3(RYR2):c.1988T>C (p.Val663Ala)
|
rs372837858
|
|
|
NM_001035.3(RYR2):c.19G>A (p.Gly7Ser)
|
rs779910353
|
|
|
NM_001035.3(RYR2):c.2000C>G (p.Ser667Cys)
|
|
|
|
NM_001035.3(RYR2):c.2009A>G (p.Tyr670Cys)
|
rs571828296
|
|
|
NM_001035.3(RYR2):c.2010_2011del (p.Tyr670_Lys671delinsTer)
|
rs1664096446
|
|
|
NM_001035.3(RYR2):c.2011A>G (p.Lys671Glu)
|
rs1664097353
|
|
|
NM_001035.3(RYR2):c.2017T>C (p.Trp673Arg)
|
|
|
|
NM_001035.3(RYR2):c.2024A>G (p.Tyr675Cys)
|
|
|
|
NM_001035.3(RYR2):c.202G>C (p.Val68Leu)
|
|
|
|
NM_001035.3(RYR2):c.2042A>G (p.His681Arg)
|
rs1344581490
|
|
|
NM_001035.3(RYR2):c.2056G>A (p.Val686Met)
|
rs1060500139
|
|
|
NM_001035.3(RYR2):c.2057T>G (p.Val686Gly)
|
rs1664102967
|
|
|
NM_001035.3(RYR2):c.2068G>A (p.Ala690Thr)
|
rs2150448340
|
|
|
NM_001035.3(RYR2):c.2080C>G (p.Arg694Gly)
|
|
|
|
NM_001035.3(RYR2):c.2080C>T (p.Arg694Ter)
|
|
|
|
NM_001035.3(RYR2):c.2116T>C (p.Tyr706His)
|
|
|
|
NM_001035.3(RYR2):c.2122G>A (p.Gly708Arg)
|
rs1235629482
|
|
|
NM_001035.3(RYR2):c.2129G>T (p.Gly710Val)
|
rs926435910
|
|
|
NM_001035.3(RYR2):c.2138G>C (p.Trp713Ser)
|
rs1553473238
|
|
|
NM_001035.3(RYR2):c.2141G>A (p.Gly714Asp)
|
|
|
|
NM_001035.3(RYR2):c.2159A>G (p.Asp720Gly)
|
|
|
|
NM_001035.3(RYR2):c.215C>A (p.Ser72Tyr)
|
rs1696644532
|
|
|
NM_001035.3(RYR2):c.2201C>G (p.Ser734Ter)
|
|
|
|
NM_001035.3(RYR2):c.2203+5G>A
|
rs766288440
|
|
|
NM_001035.3(RYR2):c.2203G>C (p.Gly735Arg)
|
rs1442111387
|
|
|
NM_001035.3(RYR2):c.2225G>A (p.Ser742Asn)
|
|
|
|
NM_001035.3(RYR2):c.223G>A (p.Val75Ile)
|
rs868504232
|
|
|
NM_001035.3(RYR2):c.2246T>G (p.Leu749Ter)
|
|
|
|
NM_001035.3(RYR2):c.224T>C (p.Val75Ala)
|
rs2149568182
|
|
|
NM_001035.3(RYR2):c.2252C>T (p.Thr751Ile)
|
|
|
|
NM_001035.3(RYR2):c.2263A>G (p.Ile755Val)
|
rs1553474585
|
|
|
NM_001035.3(RYR2):c.2263A>T (p.Ile755Phe)
|
|
|
|
NM_001035.3(RYR2):c.227G>A (p.Arg76Gln)
|
rs1696646305
|
|
|
NM_001035.3(RYR2):c.227G>C (p.Arg76Pro)
|
rs1696646305
|
|
|
NM_001035.3(RYR2):c.2288C>A (p.Ala763Asp)
|
|
|
|
NM_001035.3(RYR2):c.2288C>T (p.Ala763Val)
|
rs1664552898
|
|
|
NM_001035.3(RYR2):c.2293A>C (p.Ser765Arg)
|
rs748603282
|
|
|
NM_001035.3(RYR2):c.2305C>G (p.Arg769Gly)
|
|
|
|
NM_001035.3(RYR2):c.2332A>G (p.Met778Val)
|
rs1553474619
|
|
|
NM_001035.3(RYR2):c.2348A>G (p.Asn783Ser)
|
|
|
|
NM_001035.3(RYR2):c.2350A>G (p.Ile784Val)
|
rs794728729
|
|
|
NM_001035.3(RYR2):c.2353G>A (p.Asp785Asn)
|
rs774486571
|
|
|
NM_001035.3(RYR2):c.2359C>G (p.Leu787Val)
|
|
|
|
NM_001035.3(RYR2):c.2362T>C (p.Phe788Leu)
|
|
|
|
NM_001035.3(RYR2):c.2392A>G (p.Ile798Val)
|
|
|
|
NM_001035.3(RYR2):c.2396+7A>G
|
|
|
|
NM_001035.3(RYR2):c.2397A>C (p.Lys799Asn)
|
rs1558931160
|
|
|
NM_001035.3(RYR2):c.2398G>A (p.Val800Ile)
|
|
|
|
NM_001035.3(RYR2):c.2399T>C (p.Val800Ala)
|
rs794728730
|
|
|
NM_001035.3(RYR2):c.2401C>A (p.Arg801Ser)
|
rs940667860
|
|
|
NM_001035.3(RYR2):c.2401C>T (p.Arg801Cys)
|
rs940667860
|
|
|
NM_001035.3(RYR2):c.2422C>T (p.His808Tyr)
|
rs1263859453
|
|
|
NM_001035.3(RYR2):c.2426G>A (p.Gly809Glu)
|
rs1060500140
|
|
|
NM_001035.3(RYR2):c.2430A>C (p.Glu810Asp)
|
|
|
|
NM_001035.3(RYR2):c.2435A>G (p.Lys812Arg)
|
rs779155482
|
|
|
NM_001035.3(RYR2):c.2440C>A (p.Leu814Ile)
|
|
|
|
NM_001035.3(RYR2):c.2482C>T (p.Pro828Ser)
|
rs794728698
|
|
|
NM_001035.3(RYR2):c.2510G>C (p.Ser837Thr)
|
rs375607964
|
|
|
NM_001035.3(RYR2):c.2512C>T (p.Arg838Ter)
|
|
|
|
NM_001035.3(RYR2):c.2513G>T (p.Arg838Leu)
|
rs764043352
|
|
|
NM_001035.3(RYR2):c.2527G>C (p.Glu843Gln)
|
|
|
|
NM_001035.3(RYR2):c.2536T>C (p.Tyr846His)
|
|
|
|
NM_001035.3(RYR2):c.254C>A (p.Thr85Asn)
|
rs772005577
|
|
|
NM_001035.3(RYR2):c.254C>T (p.Thr85Ile)
|
rs772005577
|
|
|
NM_001035.3(RYR2):c.2561C>T (p.Thr854Ile)
|
rs1060500163
|
|
|
NM_001035.3(RYR2):c.2566T>C (p.Ser856Pro)
|
|
|
|
NM_001035.3(RYR2):c.2566T>G (p.Ser856Ala)
|
|
|
|
NM_001035.3(RYR2):c.258G>A (p.Val86=)
|
rs780635739
|
|
|
NM_001035.3(RYR2):c.2594T>A (p.Ile865Asn)
|
rs2150494586
|
|
|
NM_001035.3(RYR2):c.2600T>C (p.Val867Ala)
|
|
|
|
NM_001035.3(RYR2):c.2601G>A (p.Val867=)
|
rs1664878565
|
|
|
NM_001035.3(RYR2):c.2611C>G (p.Gln871Glu)
|
rs2150494702
|
|
|
NM_001035.3(RYR2):c.2613+17G>A
|
|
|
|
NM_001035.3(RYR2):c.2613+20T>C
|
|
|
|
NM_001035.3(RYR2):c.2613+4C>T
|
|
|
|
NM_001035.3(RYR2):c.2617G>C (p.Val873Leu)
|
rs369248015
|
|
|
NM_001035.3(RYR2):c.2626C>T (p.Pro876Ser)
|
|
|
|
NM_001035.3(RYR2):c.2631T>A (p.His877Gln)
|
rs1050687513
|
|
|
NM_001035.3(RYR2):c.2641A>G (p.Ile881Val)
|
rs773162223
|
|
|
NM_001035.3(RYR2):c.2657C>T (p.Ala886Val)
|
|
|
|
NM_001035.3(RYR2):c.2680G>A (p.Val894Ile)
|
|
|
|
NM_001035.3(RYR2):c.2707C>G (p.Gln903Glu)
|
|
|
|
NM_001035.3(RYR2):c.2716C>G (p.Pro906Ala)
|
rs754520058
|
|
|
NM_001035.3(RYR2):c.2718+5G>A
|
|
|
|
NM_001035.3(RYR2):c.2718+6T>C
|
rs1416205366
|
|
|
NM_001035.3(RYR2):c.2718G>A (p.Pro906=)
|
rs1164077324
|
|
|
NM_001035.3(RYR2):c.2719G>C (p.Val907Leu)
|
|
|
|
NM_001035.3(RYR2):c.273+5G>A
|
|
|
|
NM_001035.3(RYR2):c.2747C>T (p.Pro916Leu)
|
|
|
|
NM_001035.3(RYR2):c.274C>T (p.Gln92Ter)
|
rs2149691837
|
|
|
NM_001035.3(RYR2):c.2753T>C (p.Leu918Pro)
|
rs2147767632
|
|
|
NM_001035.3(RYR2):c.2764T>A (p.Ser922Thr)
|
|
|
|
NM_001035.3(RYR2):c.2765C>G (p.Ser922Cys)
|
rs1558945798
|
|
|
NM_001035.3(RYR2):c.2785C>G (p.Arg929Gly)
|
rs528906699
|
|
|
NM_001035.3(RYR2):c.2785C>T (p.Arg929Cys)
|
|
|
|
NM_001035.3(RYR2):c.2804T>C (p.Met935Thr)
|
rs1665922680
|
|
|
NM_001035.3(RYR2):c.2805G>A (p.Met935Ile)
|
rs727505044
|
|
|
NM_001035.3(RYR2):c.2807C>T (p.Ser936Leu)
|
rs1295898396
|
|
|
NM_001035.3(RYR2):c.281A>G (p.Asp94Gly)
|
|
|
|
NM_001035.3(RYR2):c.281A>T (p.Asp94Val)
|
rs876657989
|
|
|
NM_001035.3(RYR2):c.2843G>C (p.Cys948Ser)
|
rs1260308629
|
|
|
NM_001035.3(RYR2):c.2848G>T (p.Val950Leu)
|
rs794728731
|
|
|
NM_001035.3(RYR2):c.2854A>G (p.Ile952Val)
|
rs1668033659
|
|
|
NM_001035.3(RYR2):c.2868T>G (p.His956Gln)
|
rs1553486453
|
|
|
NM_001035.3(RYR2):c.2877C>A (p.Asp959Glu)
|
rs1042196921
|
|
|
NM_001035.3(RYR2):c.2878A>G (p.Lys960Glu)
|
|
|
|
NM_001035.3(RYR2):c.2884A>G (p.Lys962Glu)
|
rs1668037094
|
|
|
NM_001035.3(RYR2):c.2889A>C (p.Lys963Asn)
|
|
|
|
NM_001035.3(RYR2):c.2899C>T (p.Pro967Ser)
|
rs1558977048
|
|
|
NM_001035.3(RYR2):c.2906+6T>C
|
|
|
|
NM_001035.3(RYR2):c.2907-1G>A
|
rs111843122
|
|
|
NM_001035.3(RYR2):c.2908T>A (p.Tyr970Asn)
|
|
|
|
NM_001035.3(RYR2):c.2920A>G (p.Ser974Gly)
|
|
|
|
NM_001035.3(RYR2):c.2921G>T (p.Ser974Ile)
|
|
|
|
NM_001035.3(RYR2):c.292del (p.Trp98fs)
|
rs2149691982
|
|
|
NM_001035.3(RYR2):c.2930A>G (p.Lys977Arg)
|
|
|
|
NM_001035.3(RYR2):c.2930A>T (p.Lys977Met)
|
rs1670046069
|
|
|
NM_001035.3(RYR2):c.2932C>G (p.Pro978Ala)
|
|
|
|
NM_001035.3(RYR2):c.294+5G>A
|
rs1699261815
|
|
|
NM_001035.3(RYR2):c.2944G>A (p.Asp982Asn)
|
rs1670048030
|
|
|
NM_001035.3(RYR2):c.295-3C>T
|
|
|
|
NM_001035.3(RYR2):c.2969C>A (p.Pro990Gln)
|
rs912594681
|
|
|
NM_001035.3(RYR2):c.2971T>A (p.Ser991Thr)
|
|
|
|
NM_001035.3(RYR2):c.2972_2973inv (p.Ser991Leu)
|
|
|
|
NM_001035.3(RYR2):c.2990A>G (p.Asp997Gly)
|
rs2148090472
|
|
|
NM_001035.3(RYR2):c.2991C>G (p.Asp997Glu)
|
rs2148090488
|
|
|
NM_001035.3(RYR2):c.2998G>T (p.Ala1000Ser)
|
|
|
|
NM_001035.3(RYR2):c.2999C>T (p.Ala1000Val)
|
|
|
|
NM_001035.3(RYR2):c.29A>C (p.Glu10Ala)
|
rs1027423344
|
|
|
NM_001035.3(RYR2):c.3005A>C (p.Asn1002Thr)
|
rs1559008003
|
|
|
NM_001035.3(RYR2):c.300C>A (p.Phe100Leu)
|
rs2149727101
|
|
|
NM_001035.3(RYR2):c.3023C>A (p.Ala1008Glu)
|
rs1232224119
|
|
|
NM_001035.3(RYR2):c.3023C>T (p.Ala1008Val)
|
rs1232224119
|
|
|
NM_001035.3(RYR2):c.3026G>C (p.Arg1009Pro)
|
rs754812132
|
|
|
NM_001035.3(RYR2):c.3028G>T (p.Asp1010Tyr)
|
rs780949229
|
|
|
NM_001035.3(RYR2):c.3029A>T (p.Asp1010Val)
|
|
|
|
NM_001035.3(RYR2):c.3038G>T (p.Arg1013Leu)
|
rs149514924
|
|
|
NM_001035.3(RYR2):c.3050C>T (p.Thr1017Ile)
|
|
|
|
NM_001035.3(RYR2):c.3065A>G (p.Gln1022Arg)
|
rs761384379
|
|
|
NM_001035.3(RYR2):c.3066+5A>G
|
rs1346060761
|
|
|
NM_001035.3(RYR2):c.3067G>A (p.Asp1023Asn)
|
|
|
|
NM_001035.3(RYR2):c.3070G>A (p.Val1024Ile)
|
rs1291873158
|
|
|
NM_001035.3(RYR2):c.309+5G>T
|
rs794728695
|
|
|
NM_001035.3(RYR2):c.3091C>T (p.Arg1031Cys)
|
|
|
|
NM_001035.3(RYR2):c.3092G>A (p.Arg1031His)
|
|
|
|
NM_001035.3(RYR2):c.3107C>T (p.Thr1036Ile)
|
|
|
|
NM_001035.3(RYR2):c.3109C>G (p.Leu1037Val)
|
rs762576802
|
|
|
NM_001035.3(RYR2):c.310A>T (p.Thr104Ser)
|
rs1060500155
|
|
|
NM_001035.3(RYR2):c.3116A>G (p.Asp1039Gly)
|
|
|
|
NM_001035.3(RYR2):c.3148C>T (p.Leu1050Phe)
|
rs1572837868
|
|
|
NM_001035.3(RYR2):c.3152G>T (p.Arg1051Leu)
|
|
|
|
NM_001035.3(RYR2):c.3182G>C (p.Gly1061Ala)
|
rs373083911
|
|
|
NM_001035.3(RYR2):c.3185A>G (p.Tyr1062Cys)
|
rs1572838155
|
|
|
NM_001035.3(RYR2):c.3206A>G (p.Gln1069Arg)
|
|
|
|
NM_001035.3(RYR2):c.3208G>C (p.Asp1070His)
|
rs1670298968
|
|
|
NM_001035.3(RYR2):c.3215C>G (p.Ala1072Gly)
|
rs1321772491
|
|
|
NM_001035.3(RYR2):c.3230T>G (p.Val1077Gly)
|
|
|
|
NM_001035.3(RYR2):c.3232T>C (p.Cys1078Arg)
|
|
|
|
NM_001035.3(RYR2):c.3265C>T (p.Arg1089Cys)
|
rs879255350
|
|
|
NM_001035.3(RYR2):c.3277A>C (p.Thr1093Pro)
|
rs1672114573
|
|
|
NM_001035.3(RYR2):c.3281A>G (p.Tyr1094Cys)
|
|
|
|
NM_001035.3(RYR2):c.3286G>A (p.Val1096Met)
|
rs1386531236
|
|
|
NM_001035.3(RYR2):c.3289A>G (p.Lys1097Glu)
|
rs1553504083
|
|
|
NM_001035.3(RYR2):c.3292G>T (p.Ala1098Ser)
|
rs2148252279
|
|
|
NM_001035.3(RYR2):c.3293C>T (p.Ala1098Val)
|
rs1318943750
|
|
|
NM_001035.3(RYR2):c.3298C>T (p.Arg1100Trp)
|
|
|
|
NM_001035.3(RYR2):c.3299G>A (p.Arg1100Gln)
|
|
|
|
NM_001035.3(RYR2):c.3326C>G (p.Thr1109Ser)
|
rs2148252557
|
|
|
NM_001035.3(RYR2):c.332G>A (p.Arg111Gln)
|
|
|
|
NM_001035.3(RYR2):c.3332G>C (p.Gly1111Ala)
|
|
|
|
NM_001035.3(RYR2):c.3343G>A (p.Val1115Ile)
|
|
|
|
NM_001035.3(RYR2):c.3347G>T (p.Gly1116Val)
|
|
|
|
NM_001035.3(RYR2):c.3351G>A (p.Trp1117Ter)
|
rs1672122070
|
|
|
NM_001035.3(RYR2):c.3370C>T (p.Pro1124Ser)
|
rs2148253003
|
|
|
NM_001035.3(RYR2):c.3371C>A (p.Pro1124Gln)
|
rs779640835
|
|
|
NM_001035.3(RYR2):c.3382C>G (p.Leu1128Val)
|
|
|
|
NM_001035.3(RYR2):c.3397C>G (p.Arg1133Gly)
|
rs748085424
|
|
|
NM_001035.3(RYR2):c.3401C>A (p.Ala1134Asp)
|
|
|
|
NM_001035.3(RYR2):c.3401C>G (p.Ala1134Gly)
|
rs1319844305
|
|
|
NM_001035.3(RYR2):c.3414T>G (p.Asp1138Glu)
|
rs763881346
|
|
|
NM_001035.3(RYR2):c.3421A>C (p.Lys1141Gln)
|
|
|
|
NM_001035.3(RYR2):c.3423+2T>C
|
rs2148253549
|
|
|
NM_001035.3(RYR2):c.3423+5G>A
|
|
|
|
NM_001035.3(RYR2):c.3430C>T (p.Arg1144Trp)
|
|
|
|
NM_001035.3(RYR2):c.3446A>G (p.Asn1149Ser)
|
rs1289440571
|
|
|
NM_001035.3(RYR2):c.3460C>A (p.Arg1154Ser)
|
rs765617616
|
|
|
NM_001035.3(RYR2):c.346G>A (p.Gly116Arg)
|
|
|
|
NM_001035.3(RYR2):c.3481G>T (p.Val1161Phe)
|
|
|
|
NM_001035.3(RYR2):c.3482T>C (p.Val1161Ala)
|
rs2148275449
|
|
|
NM_001035.3(RYR2):c.3496G>A (p.Val1166Ile)
|
rs886046266
|
|
|
NM_001035.3(RYR2):c.349C>T (p.His117Tyr)
|
rs1057524592
|
|
|
NM_001035.3(RYR2):c.3502A>C (p.Met1168Leu)
|
|
|
|
NM_001035.3(RYR2):c.3502A>G (p.Met1168Val)
|
rs1217551741
|
|
|
NM_001035.3(RYR2):c.3508G>A (p.Glu1170Lys)
|
rs772236215
|
|
|
NM_001035.3(RYR2):c.350A>G (p.His117Arg)
|
|
|
|
NM_001035.3(RYR2):c.3515C>T (p.Thr1172Ile)
|
rs768755342
|
|
|
NM_001035.3(RYR2):c.3527C>T (p.Thr1176Ile)
|
|
|
|
NM_001035.3(RYR2):c.355A>G (p.Ile119Val)
|
rs1477582479
|
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NM_001035.3(RYR2):c.3560G>T (p.Gly1187Val)
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NM_001035.3(RYR2):c.3571G>A (p.Ala1191Thr)
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NM_001035.3(RYR2):c.3587A>T (p.Asp1196Val)
|
rs1672413818
|
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NM_001035.3(RYR2):c.3588T>A (p.Asp1196Glu)
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NM_001035.3(RYR2):c.3592G>T (p.Gly1198Cys)
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NM_001035.3(RYR2):c.3596A>G (p.Asp1199Gly)
|
rs149760466
|
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NM_001035.3(RYR2):c.3598+15T>G
|
rs2148276559
|
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NM_001035.3(RYR2):c.3599-3C>A
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NM_001035.3(RYR2):c.3601T>G (p.Phe1201Val)
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NM_001035.3(RYR2):c.3618C>A (p.Ser1206Arg)
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NM_001035.3(RYR2):c.3620T>C (p.Leu1207Pro)
|
rs1674951536
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NM_001035.3(RYR2):c.3625G>A (p.Val1209Met)
|
rs794728733
|
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NM_001035.3(RYR2):c.3626T>C (p.Val1209Ala)
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NM_001035.3(RYR2):c.3658G>T (p.Asp1220Tyr)
|
rs753078642
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NM_001035.3(RYR2):c.3659A>T (p.Asp1220Val)
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NM_001035.3(RYR2):c.365G>T (p.Arg122Leu)
|
rs727503396
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NM_001035.3(RYR2):c.3698A>G (p.Gln1233Arg)
|
rs1674959238
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NM_001035.3(RYR2):c.3704G>A (p.Gly1235Asp)
|
rs765263326
|
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NM_001035.3(RYR2):c.3712C>T (p.Pro1238Ser)
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NM_001035.3(RYR2):c.3728C>T (p.Thr1243Ile)
|
rs2148431137
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NM_001035.3(RYR2):c.3760A>G (p.Arg1254Gly)
|
rs748217122
|
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NM_001035.3(RYR2):c.3761G>A (p.Arg1254Lys)
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NM_001035.3(RYR2):c.3762G>C (p.Arg1254Ser)
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NM_001035.3(RYR2):c.3766C>A (p.Pro1256Thr)
|
rs769729405
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NM_001035.3(RYR2):c.3794A>G (p.His1265Arg)
|
rs1674968448
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NM_001035.3(RYR2):c.3800A>G (p.His1267Arg)
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NM_001035.3(RYR2):c.3800A>T (p.His1267Leu)
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NM_001035.3(RYR2):c.3802A>G (p.Ile1268Val)
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NM_001035.3(RYR2):c.3812C>T (p.Thr1271Ile)
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NM_001035.3(RYR2):c.3838T>C (p.Ser1280Pro)
|
rs1208920889
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NM_001035.3(RYR2):c.3839C>G (p.Ser1280Cys)
|
rs759424061
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NM_001035.3(RYR2):c.3841C>G (p.Pro1281Ala)
|
rs2148436643
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NM_001035.3(RYR2):c.3890C>G (p.Thr1297Ser)
|
rs746350036
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NM_001035.3(RYR2):c.3896T>G (p.Ile1299Ser)
|
rs772551383
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NM_001035.3(RYR2):c.3897C>G (p.Ile1299Met)
|
rs747846327
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NM_001035.3(RYR2):c.38T>G (p.Phe13Cys)
|
rs878854155
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NM_001035.3(RYR2):c.3900G>A (p.Met1300Ile)
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NM_001035.3(RYR2):c.3905A>T (p.Tyr1302Phe)
|
rs2148437157
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NM_001035.3(RYR2):c.3908G>A (p.Arg1303His)
|
rs766670579
|
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NM_001035.3(RYR2):c.3916A>G (p.Met1306Val)
|
rs767360469
|
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NM_001035.3(RYR2):c.392G>A (p.Cys131Tyr)
|
rs747297455
|
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NM_001035.3(RYR2):c.3949A>G (p.Thr1317Ala)
|
rs1553514981
|
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NM_001035.3(RYR2):c.3952G>C (p.Val1318Leu)
|
rs1675068916
|
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NM_001035.3(RYR2):c.3961G>A (p.Gly1321Arg)
|
rs2148437710
|
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NM_001035.3(RYR2):c.3964C>G (p.Leu1322Val)
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NM_001035.3(RYR2):c.396C>G (p.Cys132Trp)
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NM_001035.3(RYR2):c.3971G>A (p.Gly1324Glu)
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NM_001035.3(RYR2):c.3977G>A (p.Gly1326Asp)
|
rs1675072837
|
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NM_001035.3(RYR2):c.3980T>C (p.Leu1327Pro)
|
rs923667966
|
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NM_001035.3(RYR2):c.3988C>T (p.Pro1330Ser)
|
rs1675074576
|
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NM_001035.3(RYR2):c.3993G>C (p.Lys1331Asn)
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NM_001035.3(RYR2):c.39C>G (p.Phe13Leu)
|
rs1660038687
|
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NM_001035.3(RYR2):c.4000T>G (p.Leu1334Val)
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NM_001035.3(RYR2):c.400T>C (p.Ser134Pro)
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NM_001035.3(RYR2):c.4012G>A (p.Asp1338Asn)
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NM_001035.3(RYR2):c.4013A>T (p.Asp1338Val)
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NM_001035.3(RYR2):c.4022_4023del (p.Asp1340_Ser1341insTer)
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NM_001035.3(RYR2):c.404C>A (p.Thr135Asn)
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NM_001035.3(RYR2):c.4072C>T (p.Arg1358Cys)
|
rs771593145
|
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NM_001035.3(RYR2):c.4073G>A (p.Arg1358His)
|
rs1675084862
|
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NM_001035.3(RYR2):c.4080CAAAGA[1] (p.1360DK[1])
|
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NM_001035.3(RYR2):c.409C>A (p.Arg137=)
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NM_001035.3(RYR2):c.4102C>G (p.Pro1368Ala)
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NM_001035.3(RYR2):c.4102C>T (p.Pro1368Ser)
|
rs1675088114
|
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NM_001035.3(RYR2):c.4109T>C (p.Phe1370Ser)
|
rs1675088358
|
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NM_001035.3(RYR2):c.4110T>A (p.Phe1370Leu)
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NM_001035.3(RYR2):c.4114A>C (p.Asn1372His)
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NM_001035.3(RYR2):c.4130C>T (p.Ala1377Val)
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NM_001035.3(RYR2):c.4175G>A (p.Arg1392Lys)
|
rs1675223766
|
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NM_001035.3(RYR2):c.4189T>C (p.Tyr1397His)
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NM_001035.3(RYR2):c.4190A>T (p.Tyr1397Phe)
|
rs1318973952
|
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NM_001035.3(RYR2):c.4193G>A (p.Ser1398Asn)
|
rs761006189
|
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NM_001035.3(RYR2):c.4193G>T (p.Ser1398Ile)
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NM_001035.3(RYR2):c.4195_4200del (p.Thr1399_Ser1400del)
|
rs1553515428
|
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NM_001035.3(RYR2):c.41T>C (p.Leu14Pro)
|
rs886043844
|
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NM_001035.3(RYR2):c.4207G>T (p.Ala1403Ser)
|
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NM_001035.3(RYR2):c.4208_4209insTGTAATCTGC (p.Arg1404fs)
|
rs1553515441
|
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NM_001035.3(RYR2):c.4219G>A (p.Glu1407Lys)
|
rs1420999217
|
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NM_001035.3(RYR2):c.4219G>C (p.Glu1407Gln)
|
rs1420999217
|
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NM_001035.3(RYR2):c.4229T>C (p.Leu1410Pro)
|
rs794728734
|
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NM_001035.3(RYR2):c.4238A>G (p.Asp1413Gly)
|
rs1060500146
|
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NM_001035.3(RYR2):c.4238A>T (p.Asp1413Val)
|
rs1060500146
|
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NM_001035.3(RYR2):c.4240C>T (p.Arg1414Trp)
|
rs868750680
|
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NM_001035.3(RYR2):c.4245T>A (p.Asp1415Glu)
|
rs1675234458
|
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NM_001035.3(RYR2):c.4247A>G (p.Asp1416Gly)
|
rs1675234923
|
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NM_001035.3(RYR2):c.4252G>C (p.Asp1418His)
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NM_001035.3(RYR2):c.4262T>C (p.Met1421Thr)
|
rs2148446716
|
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NM_001035.3(RYR2):c.4265A>C (p.Gln1422Pro)
|
rs2148446764
|
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NM_001035.3(RYR2):c.4274C>A (p.Thr1425Lys)
|
rs761181641
|
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NM_001035.3(RYR2):c.4275G>A (p.Thr1425=)
|
rs1488525254
|
|
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NM_001035.3(RYR2):c.4276-17T>G
|
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NM_001035.3(RYR2):c.4276-19G>A
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NM_001035.3(RYR2):c.4277A>G (p.Tyr1426Cys)
|
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NM_001035.3(RYR2):c.4286C>T (p.Ser1429Leu)
|
rs1675464523
|
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NM_001035.3(RYR2):c.4294A>G (p.Ile1432Val)
|
rs769163639
|
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NM_001035.3(RYR2):c.431C>G (p.Ala144Gly)
|
rs1456012582
|
|
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NM_001035.3(RYR2):c.4327G>A (p.Val1443Met)
|
rs1675469138
|
|
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NM_001035.3(RYR2):c.4331G>T (p.Gly1444Val)
|
|
|
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NM_001035.3(RYR2):c.4352A>T (p.His1451Leu)
|
rs1675471793
|
|
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NM_001035.3(RYR2):c.4357T>C (p.Tyr1453His)
|
rs1573013160
|
|
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NM_001035.3(RYR2):c.4361A>G (p.Asp1454Gly)
|
rs752212017
|
|
|
NM_001035.3(RYR2):c.4376T>C (p.Leu1459Ser)
|
rs1060500158
|
|
|
NM_001035.3(RYR2):c.4378G>C (p.Asp1460His)
|
|
|
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NM_001035.3(RYR2):c.4380C>A (p.Asp1460Glu)
|
rs1675476028
|
|
|
NM_001035.3(RYR2):c.4381A>G (p.Arg1461Gly)
|
|
|
|
NM_001035.3(RYR2):c.4391C>A (p.Thr1464Lys)
|
rs1010452511
|
|
|
NM_001035.3(RYR2):c.4391C>G (p.Thr1464Arg)
|
|
|
|
NM_001035.3(RYR2):c.4396A>G (p.Thr1466Ala)
|
rs1675479559
|
|
|
NM_001035.3(RYR2):c.4405C>G (p.Leu1469Val)
|
rs2148458888
|
|
|
NM_001035.3(RYR2):c.4412A>G (p.Asp1471Gly)
|
|
|
|
NM_001035.3(RYR2):c.4424_4425del (p.Lys1475fs)
|
rs2148458967
|
|
|
NM_001035.3(RYR2):c.4430A>G (p.His1477Arg)
|
|
|
|
NM_001035.3(RYR2):c.4434A>C (p.Glu1478Asp)
|
|
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|
NM_001035.3(RYR2):c.4437-3_4437del
|
|
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NM_001035.3(RYR2):c.4454G>A (p.Cys1485Tyr)
|
|
|
|
NM_001035.3(RYR2):c.4459A>G (p.Met1487Val)
|
rs1278512393
|
|
|
NM_001035.3(RYR2):c.4460T>C (p.Met1487Thr)
|
rs1675795160
|
|
|
NM_001035.3(RYR2):c.4463T>C (p.Val1488Ala)
|
|
|
|
NM_001035.3(RYR2):c.4471G>C (p.Gly1491Arg)
|
rs1212392127
|
|
|
NM_001035.3(RYR2):c.4478G>A (p.Ser1493Asn)
|
rs1675797021
|
|
|
NM_001035.3(RYR2):c.44_45insTGT (p.Arg15_Thr16insVal)
|
|
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|
NM_001035.3(RYR2):c.4502A>G (p.Asn1501Ser)
|
rs2148474843
|
|
|
NM_001035.3(RYR2):c.4505A>G (p.Asn1502Ser)
|
rs769604342
|
|
|
NM_001035.3(RYR2):c.4513C>G (p.Leu1505Val)
|
rs1057518306
|
|
|
NM_001035.3(RYR2):c.4528G>A (p.Val1510Met)
|
rs2148475032
|
|
|
NM_001035.3(RYR2):c.4531G>T (p.Val1511Leu)
|
rs1298609322
|
|
|
NM_001035.3(RYR2):c.4541C>T (p.Ala1514Val)
|
|
|
|
NM_001035.3(RYR2):c.4568A>G (p.Asn1523Ser)
|
|
|
|
NM_001035.3(RYR2):c.4574A>C (p.Lys1525Thr)
|
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NM_001035.3(RYR2):c.4586C>T (p.Thr1529Ile)
|
|
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|
NM_001035.3(RYR2):c.4596+3_4596+9del
|
rs878854157
|
|
|
NM_001035.3(RYR2):c.4596+5G>A
|
rs1453761148
|
|
|
NM_001035.3(RYR2):c.4604C>T (p.Pro1535Leu)
|
rs973392998
|
|
|
NM_001035.3(RYR2):c.4625C>A (p.Ala1542Glu)
|
|
|
|
NM_001035.3(RYR2):c.4625C>T (p.Ala1542Val)
|
|
|
|
NM_001035.3(RYR2):c.463+6C>A
|
rs397516533
|
|
|
NM_001035.3(RYR2):c.464-1G>A
|
|
|
|
NM_001035.3(RYR2):c.4648C>T (p.Pro1550Ser)
|
rs1553518591
|
|
|
NM_001035.3(RYR2):c.464G>A (p.Gly155Glu)
|
rs1060500152
|
|
|
NM_001035.3(RYR2):c.4664T>A (p.Phe1555Tyr)
|
rs1676563735
|
|
|
NM_001035.3(RYR2):c.4668G>T (p.Glu1556Asp)
|
rs370332700
|
|
|
NM_001035.3(RYR2):c.4669T>A (p.Leu1557Met)
|
rs947233100
|
|
|
NM_001035.3(RYR2):c.4678A>G (p.Ile1560Val)
|
|
|
|
NM_001035.3(RYR2):c.4684-3T>C
|
|
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|
NM_001035.3(RYR2):c.4688T>C (p.Val1563Ala)
|
|
|
|
NM_001035.3(RYR2):c.4703C>T (p.Ala1568Val)
|
rs955021407
|
|
|
NM_001035.3(RYR2):c.4704G>A (p.Ala1568=)
|
rs1376915958
|
|
|
NM_001035.3(RYR2):c.4713C>A (p.Phe1571Leu)
|
rs2148572561
|
|
|
NM_001035.3(RYR2):c.4714A>G (p.Lys1572Glu)
|
|
|
|
NM_001035.3(RYR2):c.4718G>A (p.Ser1573Asn)
|
rs776893934
|
|
|
NM_001035.3(RYR2):c.471TTG[1] (p.Cys158del)
|
rs2149792684
|
|
|
NM_001035.3(RYR2):c.4735G>C (p.Val1579Leu)
|
rs763389778
|
|
|
NM_001035.3(RYR2):c.4738C>T (p.Pro1580Ser)
|
rs1677765906
|
|
|
NM_001035.3(RYR2):c.4739C>T (p.Pro1580Leu)
|
rs755303612
|
|
|
NM_001035.3(RYR2):c.4745G>C (p.Cys1582Ser)
|
|
|
|
NM_001035.3(RYR2):c.4748C>T (p.Pro1583Leu)
|
rs1421328710
|
|
|
NM_001035.3(RYR2):c.4750C>G (p.Pro1584Ala)
|
rs745824179
|
|
|
NM_001035.3(RYR2):c.4750C>T (p.Pro1584Ser)
|
|
|
|
NM_001035.3(RYR2):c.4751C>T (p.Pro1584Leu)
|
rs772098320
|
|
|
NM_001035.3(RYR2):c.4756C>T (p.Leu1586Phe)
|
rs1677771351
|
|
|
NM_001035.3(RYR2):c.4760A>G
|
rs727504133
|
|
|
NM_001035.3(RYR2):c.4766A>G (p.Gln1589Arg)
|
|
|
|
NM_001035.3(RYR2):c.4781T>C (p.Val1594Ala)
|
|
|
|
NM_001035.3(RYR2):c.4790G>A (p.Ser1597Asn)
|
rs1481918213
|
|
|
NM_001035.3(RYR2):c.4797G>A (p.Met1599Ile)
|
rs1217016031
|
|
|
NM_001035.3(RYR2):c.4799C>T (p.Pro1600Leu)
|
rs759952370
|
|
|
NM_001035.3(RYR2):c.47_48del (p.Thr16fs)
|
|
|
|
NM_001035.3(RYR2):c.48+10G>A
|
|
|
|
NM_001035.3(RYR2):c.48+15T>C
|
|
|
|
NM_001035.3(RYR2):c.48+2T>C
|
|
|
|
NM_001035.3(RYR2):c.48+6C>A
|
|
|
|
NM_001035.3(RYR2):c.48+8C>T
|
|
|
|
NM_001035.3(RYR2):c.48+9C>T
|
|
|
|
NM_001035.3(RYR2):c.4803C>G (p.Asn1601Lys)
|
|
|
|
NM_001035.3(RYR2):c.4804C>T (p.Gln1602Ter)
|
|
|
|
NM_001035.3(RYR2):c.4822G>C (p.Val1608Leu)
|
rs1677780778
|
|
|
NM_001035.3(RYR2):c.4840C>A (p.Arg1614Ser)
|
|
|
|
NM_001035.3(RYR2):c.4841G>T (p.Arg1614Leu)
|
rs746943081
|
|
|
NM_001035.3(RYR2):c.4843C>T (p.Gln1615Ter)
|
|
|
|
NM_001035.3(RYR2):c.4848C>T (p.Gly1616=)
|
rs1308711902
|
|
|
NM_001035.3(RYR2):c.4868A>G (p.Asp1623Gly)
|
rs1421802252
|
|
|
NM_001035.3(RYR2):c.4880T>A (p.Phe1627Tyr)
|
rs2148574202
|
|
|
NM_001035.3(RYR2):c.4885T>C (p.Ser1629Pro)
|
rs1435195421
|
|
|
NM_001035.3(RYR2):c.48T>C (p.Thr16=)
|
|
|
|
NM_001035.3(RYR2):c.4910+1G>A
|
|
|
|
NM_001035.3(RYR2):c.4910+3C>G
|
rs757198624
|
|
|
NM_001035.3(RYR2):c.4910+3C>T
|
|
|
|
NM_001035.3(RYR2):c.4910+6C>T
|
rs1553521040
|
|
|
NM_001035.3(RYR2):c.4912T>A (p.Ser1638Thr)
|
rs794728739
|
|
|
NM_001035.3(RYR2):c.4913del (p.Ser1638fs)
|
rs1573121929
|
|
|
NM_001035.3(RYR2):c.4921A>T (p.Ile1641Phe)
|
|
|
|
NM_001035.3(RYR2):c.4931T>C (p.Leu1644Ser)
|
rs2148593157
|
|
|
NM_001035.3(RYR2):c.4932G>C (p.Leu1644Phe)
|
|
|
|
NM_001035.3(RYR2):c.4935dup (p.Glu1646fs)
|
|
|
|
NM_001035.3(RYR2):c.4964A>G (p.Tyr1655Cys)
|
rs1678200182
|
|
|
NM_001035.3(RYR2):c.4972C>T (p.Leu1658Phe)
|
rs767540663
|
|
|
NM_001035.3(RYR2):c.4973T>C (p.Leu1658Pro)
|
rs2148593468
|
|
|
NM_001035.3(RYR2):c.4976G>A (p.Arg1659Gln)
|
rs1281673231
|
|
|
NM_001035.3(RYR2):c.497C>T (p.Ser166Phe)
|
|
|
|
NM_001035.3(RYR2):c.4990G>T (p.Val1664Phe)
|
rs749434532
|
|
|
NM_001035.3(RYR2):c.4991T>A (p.Val1664Asp)
|
rs878854158
|
|
|
NM_001035.3(RYR2):c.5012G>A (p.Arg1671Gln)
|
rs777091366
|
|
|
NM_001035.3(RYR2):c.5017G>A (p.Ala1673Thr)
|
rs2148593799
|
|
|
NM_001035.3(RYR2):c.5018C>T (p.Ala1673Val)
|
rs2148593806
|
|
|
NM_001035.3(RYR2):c.5023G>T (p.Ala1675Ser)
|
rs2148593845
|
|
|
NM_001035.3(RYR2):c.5033G>A (p.Ser1678Asn)
|
rs1678207715
|
|
|
NM_001035.3(RYR2):c.5047C>G (p.Pro1683Ala)
|
|
|
|
NM_001035.3(RYR2):c.5047C>T (p.Pro1683Ser)
|
rs766933683
|
|
|
NM_001035.3(RYR2):c.5060A>C (p.Tyr1687Ser)
|
rs760479688
|
|
|
NM_001035.3(RYR2):c.5080A>G (p.Met1694Val)
|
rs1486465466
|
|
|
NM_001035.3(RYR2):c.5086G>C (p.Gly1696Arg)
|
|
|
|
NM_001035.3(RYR2):c.508T>A (p.Ser170Thr)
|
rs1558712336
|
|
|
NM_001035.3(RYR2):c.5091G>C (p.Leu1697Phe)
|
|
|
|
NM_001035.3(RYR2):c.50A>G (p.Asp17Gly)
|
|
|
|
NM_001035.3(RYR2):c.5105A>G (p.Tyr1702Cys)
|
|
|
|
NM_001035.3(RYR2):c.5152A>G (p.Arg1718Gly)
|
|
|
|
NM_001035.3(RYR2):c.5154G>C (p.Arg1718Ser)
|
rs114534505
|
|
|
NM_001035.3(RYR2):c.5168A>G (p.Asn1723Ser)
|
rs2148594785
|
|
|
NM_001035.3(RYR2):c.5176A>C (p.Ile1726Leu)
|
|
|
|
NM_001035.3(RYR2):c.5176A>G (p.Ile1726Val)
|
rs764065333
|
|
|
NM_001035.3(RYR2):c.5186T>A (p.Met1729Lys)
|
|
|
|
NM_001035.3(RYR2):c.5203A>G (p.Ser1735Gly)
|
|
|
|
NM_001035.3(RYR2):c.5209A>C (p.Thr1737Pro)
|
|
|
|
NM_001035.3(RYR2):c.5210C>G (p.Thr1737Ser)
|
rs1172292367
|
|
|
NM_001035.3(RYR2):c.5215T>C (p.Phe1739Leu)
|
rs2148595163
|
|
|
NM_001035.3(RYR2):c.5227A>G (p.Asn1743Asp)
|
|
|
|
NM_001035.3(RYR2):c.5239G>A (p.Gly1747Ser)
|
rs1553522190
|
|
|
NM_001035.3(RYR2):c.5248G>A (p.Gly1750Arg)
|
rs2148595384
|
|
|
NM_001035.3(RYR2):c.5251A>T (p.Ile1751Phe)
|
rs1573124154
|
|
|
NM_001035.3(RYR2):c.5266T>G (p.Ser1756Ala)
|
rs1038625350
|
|
|
NM_001035.3(RYR2):c.5270T>C (p.Leu1757Pro)
|
|
|
|
NM_001035.3(RYR2):c.5279G>C (p.Arg1760Pro)
|
rs765106198
|
|
|
NM_001035.3(RYR2):c.5291C>T (p.Ser1764Phe)
|
rs1678236675
|
|
|
NM_001035.3(RYR2):c.5296C>T (p.Pro1766Ser)
|
rs1573124513
|
|
|
NM_001035.3(RYR2):c.5299A>G (p.Ser1767Gly)
|
rs751819202
|
|
|
NM_001035.3(RYR2):c.5309G>A (p.Ser1770Asn)
|
rs1678239780
|
|
|
NM_001035.3(RYR2):c.530T>G (p.Val177Gly)
|
|
|
|
NM_001035.3(RYR2):c.5311A>G (p.Ile1771Val)
|
rs1678240011
|
|
|
NM_001035.3(RYR2):c.5315G>T (p.Ser1772Ile)
|
rs1559116458
|
|
|
NM_001035.3(RYR2):c.5320G>A (p.Glu1774Lys)
|
|
|
|
NM_001035.3(RYR2):c.5321A>T (p.Glu1774Val)
|
|
|
|
NM_001035.3(RYR2):c.5332T>G (p.Tyr1778Asp)
|
rs2148595965
|
|
|
NM_001035.3(RYR2):c.5374A>T (p.Ile1792Leu)
|
rs878854159
|
|
|
NM_001035.3(RYR2):c.5410C>T (p.Leu1804Phe)
|
rs367609940
|
|
|
NM_001035.3(RYR2):c.5414A>G (p.His1805Arg)
|
rs759774382
|
|
|
NM_001035.3(RYR2):c.5417C>T (p.Ala1806Val)
|
rs1415713582
|
|
|
NM_001035.3(RYR2):c.5433del (p.Thr1813fs)
|
rs1678252821
|
|
|
NM_001035.3(RYR2):c.5437A>G (p.Thr1813Ala)
|
|
|
|
NM_001035.3(RYR2):c.5437A>T (p.Thr1813Ser)
|
|
|
|
NM_001035.3(RYR2):c.5441C>T (p.Thr1814Ile)
|
|
|
|
NM_001035.3(RYR2):c.544A>G (p.Ile182Val)
|
rs2149792958
|
|
|
NM_001035.3(RYR2):c.5462T>C (p.Leu1821Pro)
|
|
|
|
NM_001035.3(RYR2):c.5473T>C (p.Phe1825Leu)
|
|
|
|
NM_001035.3(RYR2):c.5477A>G (p.Tyr1826Cys)
|
|
|
|
NM_001035.3(RYR2):c.5480C>A (p.Thr1827Asn)
|
rs968046365
|
|
|
NM_001035.3(RYR2):c.5485C>G (p.Leu1829Val)
|
rs876657991
|
|
|
NM_001035.3(RYR2):c.5507A>G (p.Asn1836Ser)
|
rs1678261343
|
|
|
NM_001035.3(RYR2):c.5512G>A (p.Asp1838Asn)
|
|
|
|
NM_001035.3(RYR2):c.5512G>T (p.Asp1838Tyr)
|
rs1559117015
|
|
|
NM_001035.3(RYR2):c.5519A>G (p.Lys1840Arg)
|
|
|
|
NM_001035.3(RYR2):c.551_554del (p.Val184fs)
|
|
|
|
NM_001035.3(RYR2):c.5521C>G (p.His1841Asp)
|
rs1678263302
|
|
|
NM_001035.3(RYR2):c.5525T>C (p.Ile1842Thr)
|
rs1168483242
|
|
|
NM_001035.3(RYR2):c.5594A>G (p.Glu1865Gly)
|
rs2148597888
|
|
|
NM_001035.3(RYR2):c.5601G>T (p.Glu1867Asp)
|
|
|
|
NM_001035.3(RYR2):c.5611G>T (p.Asp1871Tyr)
|
rs1678273557
|
|
|
NM_001035.3(RYR2):c.5612A>G (p.Asp1871Gly)
|
rs895322404
|
|
|
NM_001035.3(RYR2):c.5616T>A (p.Asp1872Glu)
|
|
|
|
NM_001035.3(RYR2):c.5635G>A (p.Gly1879Ser)
|
rs1678277050
|
|
|
NM_001035.3(RYR2):c.5639A>T (p.Glu1880Val)
|
rs727504792
|
|
|
NM_001035.3(RYR2):c.5651A>G (p.Lys1884Arg)
|
|
|
|
NM_001035.3(RYR2):c.5652_5653delinsTT (p.Lys1884_Gly1885delinsAsnTrp)
|
rs2148598407
|
|
|
NM_001035.3(RYR2):c.5653G>C (p.Gly1885Arg)
|
rs200197527
|
|
|
NM_001035.3(RYR2):c.5660A>C (p.Lys1887Thr)
|
rs1415979370
|
|
|
NM_001035.3(RYR2):c.5660A>T (p.Lys1887Met)
|
|
|
|
NM_001035.3(RYR2):c.5663G>T (p.Arg1888Leu)
|
rs869025511
|
|
|
NM_001035.3(RYR2):c.5668A>G (p.Lys1890Glu)
|
|
|
|
NM_001035.3(RYR2):c.5711T>C (p.Leu1904Ser)
|
rs1678290289
|
|
|
NM_001035.3(RYR2):c.5716-3T>A
|
rs1573142057
|
|
|
NM_001035.3(RYR2):c.5723T>C (p.Leu1908Pro)
|
|
|
|
NM_001035.3(RYR2):c.5740T>C (p.Cys1914Arg)
|
|
|
|
NM_001035.3(RYR2):c.574T>G (p.Leu192Val)
|
|
|
|
NM_001035.3(RYR2):c.5752G>T (p.Val1918Phe)
|
rs912197043
|
|
|
NM_001035.3(RYR2):c.576+1G>T
|
|
|
|
NM_001035.3(RYR2):c.5764A>G (p.Ile1922Val)
|
rs374874044
|
|
|
NM_001035.3(RYR2):c.5764A>T (p.Ile1922Leu)
|
|
|
|
NM_001035.3(RYR2):c.5771C>G (p.Ala1924Gly)
|
rs776358808
|
|
|
NM_001035.3(RYR2):c.5773A>G (p.Ile1925Val)
|
rs1678588295
|
|
|
NM_001035.3(RYR2):c.5806C>A (p.Leu1936Ile)
|
rs2148613988
|
|
|
NM_001035.3(RYR2):c.5821C>T (p.Arg1941Cys)
|
rs754811291
|
|
|
NM_001035.3(RYR2):c.5836G>A (p.Glu1946Lys)
|
rs267598436
|
|
|
NM_001035.3(RYR2):c.5838A>C (p.Glu1946Asp)
|
rs1485391345
|
|
|
NM_001035.3(RYR2):c.5857A>C (p.Met1953Leu)
|
rs1057518592
|
|
|
NM_001035.3(RYR2):c.5858T>C (p.Met1953Thr)
|
|
|
|
NM_001035.3(RYR2):c.5875G>A (p.Ala1959Thr)
|
|
|
|
NM_001035.3(RYR2):c.5882A>G (p.Lys1961Arg)
|
|
|
|
NM_001035.3(RYR2):c.5895del (p.Phe1965fs)
|
|
|
|
NM_001035.3(RYR2):c.5899T>C (p.Ser1967Pro)
|
|
|
|
NM_001035.3(RYR2):c.5920A>C (p.Asn1974His)
|
rs1450235463
|
|
|
NM_001035.3(RYR2):c.5920A>G (p.Asn1974Asp)
|
|
|
|
NM_001035.3(RYR2):c.5925G>A (p.Met1975Ile)
|
rs1060500165
|
|
|
NM_001035.3(RYR2):c.5940G>C (p.Lys1980Asn)
|
|
|
|
NM_001035.3(RYR2):c.5944G>C (p.Asp1982His)
|
|
|
|
NM_001035.3(RYR2):c.594C>A (p.Asn198Lys)
|
|
|
|
NM_001035.3(RYR2):c.595G>A (p.Gly199Ser)
|
rs886046261
|
|
|
NM_001035.3(RYR2):c.596G>T (p.Gly199Val)
|
rs754911836
|
|
|
NM_001035.3(RYR2):c.5980G>T (p.Asp1994Tyr)
|
|
|
|
NM_001035.3(RYR2):c.5984A>T (p.Gln1995Leu)
|
rs2148649347
|
|
|
NM_001035.3(RYR2):c.5994T>A (p.Asp1998Glu)
|
rs2148649411
|
|
|
NM_001035.3(RYR2):c.5999A>G (p.His2000Arg)
|
rs1679359996
|
|
|
NM_001035.3(RYR2):c.6003A>C (p.Glu2001Asp)
|
|
|
|
NM_001035.3(RYR2):c.6004G>A (p.Asp2002Asn)
|
rs2148649453
|
|
|
NM_001035.3(RYR2):c.6005A>G (p.Asp2002Gly)
|
|
|
|
NM_001035.3(RYR2):c.6017A>G (p.His2006Arg)
|
rs1553528609
|
|
|
NM_001035.3(RYR2):c.6020G>T (p.Cys2007Phe)
|
rs1251250228
|
|
|
NM_001035.3(RYR2):c.6022+6G>A
|
rs1679363703
|
|
|
NM_001035.3(RYR2):c.6027T>G (p.Ile2009Met)
|
rs1553529773
|
|
|
NM_001035.3(RYR2):c.6044G>A (p.Gly2015Glu)
|
|
|
|
NM_001035.3(RYR2):c.6053A>G (p.Asp2018Gly)
|
rs1679572780
|
|
|
NM_001035.3(RYR2):c.606C>A (p.His202Gln)
|
rs1438256315
|
|
|
NM_001035.3(RYR2):c.6077G>C (p.Arg2026Thr)
|
|
|
|
NM_001035.3(RYR2):c.607G>A (p.Val203Met)
|
rs1158346329
|
|
|
NM_001035.3(RYR2):c.6080G>T (p.Gly2027Val)
|
rs2148657684
|
|
|
NM_001035.3(RYR2):c.6091T>A (p.Ser2031Thr)
|
|
|
|
NM_001035.3(RYR2):c.6094C>G (p.Leu2032Val)
|
|
|
|
NM_001035.3(RYR2):c.6105G>A (p.Lys2035=)
|
|
|
|
NM_001035.3(RYR2):c.6118AAG[4] (p.Lys2042_Gln2043insLys)
|
|
|
|
NM_001035.3(RYR2):c.611A>T (p.Asp204Val)
|
rs2149842971
|
|
|
NM_001035.3(RYR2):c.6134A>G (p.Glu2045Gly)
|
rs878854160
|
|
|
NM_001035.3(RYR2):c.6149G>A (p.Ser2050Asn)
|
rs1679582199
|
|
|
NM_001035.3(RYR2):c.6163T>C (p.Ser2055Pro)
|
rs746490469
|
|
|
NM_001035.3(RYR2):c.6166+6C>T
|
rs1679584792
|
|
|
NM_001035.3(RYR2):c.6166+7A>G
|
rs1679585107
|
|
|
NM_001035.3(RYR2):c.6170C>T (p.Thr2057Ile)
|
rs1679842104
|
|
|
NM_001035.3(RYR2):c.6191A>G (p.Glu2064Gly)
|
|
|
|
NM_001035.3(RYR2):c.6212A>C (p.Gln2071Pro)
|
rs1426800953
|
|
|
NM_001035.3(RYR2):c.6231C>A (p.Asp2077Glu)
|
rs1407541809
|
|
|
NM_001035.3(RYR2):c.6235G>A (p.Glu2079Lys)
|
|
|
|
NM_001035.3(RYR2):c.623A>C (p.Gln208Pro)
|
rs778071716
|
|
|
NM_001035.3(RYR2):c.6245G>A (p.Arg2082Lys)
|
|
|
|
NM_001035.3(RYR2):c.6268C>T (p.Arg2090Trp)
|
rs1284802339
|
|
|
NM_001035.3(RYR2):c.6274T>C (p.Tyr2092His)
|
|
|
|
NM_001035.3(RYR2):c.6293T>G (p.Leu2098Arg)
|
rs2148667139
|
|
|
NM_001035.3(RYR2):c.6295G>A (p.Val2099Ile)
|
rs767569006
|
|
|
NM_001035.3(RYR2):c.6298C>T (p.Arg2100Trp)
|
rs753164125
|
|
|
NM_001035.3(RYR2):c.6302C>T (p.Ala2101Val)
|
rs2148667213
|
|
|
NM_001035.3(RYR2):c.6310A>C (p.Lys2104Gln)
|
rs2148667245
|
|
|
NM_001035.3(RYR2):c.6322A>G (p.Ile2108Val)
|
rs2148667315
|
|
|
NM_001035.3(RYR2):c.6331G>T (p.Val2111Leu)
|
rs2148667347
|
|
|
NM_001035.3(RYR2):c.6349A>G (p.Ile2117Val)
|
|
|
|
NM_001035.3(RYR2):c.6367C>T (p.Leu2123Phe)
|
rs1060500159
|
|
|
NM_001035.3(RYR2):c.6380G>A (p.Arg2127Gln)
|
rs397516547
|
|
|
NM_001035.3(RYR2):c.638G>A (p.Ser213Asn)
|
rs1702026122
|
|
|
NM_001035.3(RYR2):c.639C>A (p.Ser213Arg)
|
rs375180398
|
|
|
NM_001035.3(RYR2):c.6408A>C (p.Lys2136Asn)
|
rs2148667612
|
|
|
NM_001035.3(RYR2):c.6419A>C (p.Lys2140Thr)
|
rs1443634453
|
|
|
NM_001035.3(RYR2):c.6452A>T (p.Asn2151Ile)
|
|
|
|
NM_001035.3(RYR2):c.6472C>G (p.His2158Asp)
|
rs1680241133
|
|
|
NM_001035.3(RYR2):c.6476C>A (p.Pro2159His)
|
rs1680241596
|
|
|
NM_001035.3(RYR2):c.6506A>G (p.Glu2169Gly)
|
rs1064794183
|
|
|
NM_001035.3(RYR2):c.6531C>G (p.Asn2177Lys)
|
rs757298566
|
|
|
NM_001035.3(RYR2):c.6546A>G (p.Gly2182=)
|
|
|
|
NM_001035.3(RYR2):c.6549_6555+3dup
|
|
|
|
NM_001035.3(RYR2):c.6568C>A (p.Pro2190Thr)
|
rs1558103839
|
|
|
NM_001035.3(RYR2):c.6574A>G (p.Met2192Val)
|
|
|
|
NM_001035.3(RYR2):c.6580G>T (p.Ala2194Ser)
|
|
|
|
NM_001035.3(RYR2):c.6587G>A (p.Cys2196Tyr)
|
rs1680567505
|
|
|
NM_001035.3(RYR2):c.6593G>A (p.Arg2198His)
|
rs375935636
|
|
|
NM_001035.3(RYR2):c.6598C>G (p.Leu2200Val)
|
|
|
|
NM_001035.3(RYR2):c.659G>A (p.Gly220Glu)
|
rs786205454
|
|
|
NM_001035.3(RYR2):c.6603T>G (p.Cys2201Trp)
|
rs2148700795
|
|
|
NM_001035.3(RYR2):c.6613C>G (p.Arg2205Gly)
|
rs1558103888
|
|
|
NM_001035.3(RYR2):c.6613C>T (p.Arg2205Cys)
|
rs1558103888
|
|
|
NM_001035.3(RYR2):c.661A>G (p.Ser221Gly)
|
rs1553431798
|
|
|
NM_001035.3(RYR2):c.6637G>T (p.Ala2213Ser)
|
rs1680569929
|
|
|
NM_001035.3(RYR2):c.6637_6644delinsTCAAAATAAC (p.Ala2213_Phe2215delinsSerLysTer)
|
rs1680570117
|
|
|
NM_001035.3(RYR2):c.6638C>T (p.Ala2213Val)
|
rs1060500144
|
|
|
NM_001035.3(RYR2):c.6667G>C (p.Glu2223Gln)
|
|
|
|
NM_001035.3(RYR2):c.667G>A (p.Ala223Thr)
|
rs1558732422
|
|
|
NM_001035.3(RYR2):c.6689-1G>A
|
rs794728822
|
|
|
NM_001035.3(RYR2):c.6702G>C (p.Met2234Ile)
|
|
|
|
NM_001035.3(RYR2):c.6706G>A (p.Gly2236Ser)
|
rs1680719186
|
|
|
NM_001035.3(RYR2):c.6713C>T (p.Thr2238Ile)
|
rs2148707248
|
|
|
NM_001035.3(RYR2):c.6716C>T (p.Pro2239Leu)
|
rs1680720163
|
|
|
NM_001035.3(RYR2):c.671C>T (p.Ala224Val)
|
|
|
|
NM_001035.3(RYR2):c.6730G>A (p.Ala2244Thr)
|
|
|
|
NM_001035.3(RYR2):c.6743T>C (p.Met2248Thr)
|
|
|
|
NM_001035.3(RYR2):c.6754G>A (p.Glu2252Lys)
|
rs1318607228
|
|
|
NM_001035.3(RYR2):c.676+3A>G
|
rs1702028230
|
|
|
NM_001035.3(RYR2):c.6760G>A (p.Ala2254Thr)
|
rs1680726117
|
|
|
NM_001035.3(RYR2):c.6773G>C (p.Arg2258Pro)
|
rs779289104
|
|
|
NM_001035.3(RYR2):c.6792+5G>A
|
rs1410840833
|
|
|
NM_001035.3(RYR2):c.6792G>C (p.Lys2264Asn)
|
rs1680728738
|
|
|
NM_001035.3(RYR2):c.6792G>T (p.Lys2264Asn)
|
rs1680728738
|
|
|
NM_001035.3(RYR2):c.6793-5T>G
|
rs1060500148
|
|
|
NM_001035.3(RYR2):c.6811G>T (p.Gly2271Cys)
|
rs375371340
|
|
|
NM_001035.3(RYR2):c.6817G>A (p.Gly2273Arg)
|
rs1681095773
|
|
|
NM_001035.3(RYR2):c.6827G>T (p.Ser2276Ile)
|
rs1247927726
|
|
|
NM_001035.3(RYR2):c.682C>T (p.Leu228Phe)
|
|
|
|
NM_001035.3(RYR2):c.6834G>C (p.Gln2278His)
|
rs1269962708
|
|
|
NM_001035.3(RYR2):c.6850G>T (p.Gly2284Cys)
|
|
|
|
NM_001035.3(RYR2):c.6853T>A (p.Tyr2285Asn)
|
rs1681099721
|
|
|
NM_001035.3(RYR2):c.685A>C (p.Ile229Leu)
|
|
|
|
NM_001035.3(RYR2):c.685A>T (p.Ile229Phe)
|
rs368653489
|
|
|
NM_001035.3(RYR2):c.6871A>G (p.Asn2291Asp)
|
rs1681101676
|
|
|
NM_001035.3(RYR2):c.6880G>A (p.Glu2294Lys)
|
rs1238576332
|
|
|
NM_001035.3(RYR2):c.6895C>G (p.Leu2299Val)
|
rs2148724365
|
|
|
NM_001035.3(RYR2):c.6899A>G (p.Asp2300Gly)
|
rs1681104142
|
|
|
NM_001035.3(RYR2):c.689G>A (p.Gly230Asp)
|
rs794728710
|
|
|
NM_001035.3(RYR2):c.6911T>C (p.Phe2304Ser)
|
rs2148724464
|
|
|
NM_001035.3(RYR2):c.691G>T (p.Gly231Cys)
|
rs2149847466
|
|
|
NM_001035.3(RYR2):c.6922T>C (p.Cys2308Arg)
|
rs1681106353
|
|
|
NM_001035.3(RYR2):c.6927T>C (p.Asn2309=)
|
|
|
|
NM_001035.3(RYR2):c.6934A>G (p.Ser2312Gly)
|
rs1060500164
|
|
|
NM_001035.3(RYR2):c.6938T>C (p.Val2313Ala)
|
rs1681171235
|
|
|
NM_001035.3(RYR2):c.6950C>T (p.Ala2317Val)
|
rs794728750
|
|
|
NM_001035.3(RYR2):c.6958G>A (p.Val2320Met)
|
rs1057522884
|
|
|
NM_001035.3(RYR2):c.6967T>G (p.Leu2323Val)
|
|
|
|
NM_001035.3(RYR2):c.6973A>T (p.Ile2325Phe)
|
rs1060500138
|
|
|
NM_001035.3(RYR2):c.6985G>A (p.Glu2329Lys)
|
|
|
|
NM_001035.3(RYR2):c.6994G>T (p.Gly2332Cys)
|
rs766508848
|
|
|
NM_001035.3(RYR2):c.6C>A (p.Ala2=)
|
rs1019441723
|
|
|
NM_001035.3(RYR2):c.7000G>A (p.Ala2334Thr)
|
rs1681178084
|
|
|
NM_001035.3(RYR2):c.7007GAG[1] (p.Gly2337del)
|
|
|
|
NM_001035.3(RYR2):c.7022A>G (p.Asn2341Ser)
|
rs1681180500
|
|
|
NM_001035.3(RYR2):c.7025G>T (p.Gly2342Val)
|
rs794728751
|
|
|
NM_001035.3(RYR2):c.7030C>T (p.Leu2344Phe)
|
rs2148728141
|
|
|
NM_001035.3(RYR2):c.7031T>C (p.Leu2344Pro)
|
rs2148728162
|
|
|
NM_001035.3(RYR2):c.7045_7057del (p.Glu2349fs)
|
|
|
|
NM_001035.3(RYR2):c.7046A>G (p.Glu2349Gly)
|
|
|
|
NM_001035.3(RYR2):c.7052T>C (p.Ile2351Thr)
|
rs1282045319
|
|
|
NM_001035.3(RYR2):c.7063_7064delinsTT (p.Glu2355Leu)
|
|
|
|
NM_001035.3(RYR2):c.7073C>A (p.Ser2358Tyr)
|
rs954868104
|
|
|
NM_001035.3(RYR2):c.7078G>A (p.Asp2360Asn)
|
|
|
|
NM_001035.3(RYR2):c.7081G>A (p.Gly2361Ser)
|
|
|
|
NM_001035.3(RYR2):c.7084C>G (p.Pro2362Ala)
|
rs1681189802
|
|
|
NM_001035.3(RYR2):c.7105A>G (p.Ser2369Gly)
|
rs1327450246
|
|
|
NM_001035.3(RYR2):c.7108A>G (p.Lys2370Glu)
|
|
|
|
NM_001035.3(RYR2):c.7114C>A (p.Leu2372Ile)
|
rs765925963
|
|
|
NM_001035.3(RYR2):c.7114C>T (p.Leu2372Phe)
|
|
|
|
NM_001035.3(RYR2):c.7115+4G>T
|
rs1681194479
|
|
|
NM_001035.3(RYR2):c.7115+6T>G
|
rs2148728871
|
|
|
NM_001035.3(RYR2):c.7115T>C (p.Leu2372Pro)
|
rs1245506727
|
|
|
NM_001035.3(RYR2):c.7115T>G (p.Leu2372Arg)
|
rs1245506727
|
|
|
NM_001035.3(RYR2):c.7116-2A>G
|
rs2148738146
|
|
|
NM_001035.3(RYR2):c.7124A>G (p.Glu2375Gly)
|
rs1553264645
|
|
|
NM_001035.3(RYR2):c.7134A>T (p.Glu2378Asp)
|
|
|
|
NM_001035.3(RYR2):c.7158C>A (p.Asn2386Lys)
|
rs376057173
|
|
|
NM_001035.3(RYR2):c.7158C>G (p.Asn2386Lys)
|
rs376057173
|
|
|
NM_001035.3(RYR2):c.7177T>C (p.Ser2393Pro)
|
rs1553264716
|
|
|
NM_001035.3(RYR2):c.7195T>G (p.Leu2399Val)
|
rs1681407618
|
|
|
NM_001035.3(RYR2):c.7196T>A (p.Leu2399Ter)
|
rs1573284644
|
|
|
NM_001035.3(RYR2):c.7199G>A (p.Gly2400Glu)
|
rs1681408105
|
|
|
NM_001035.3(RYR2):c.7207G>A (p.Ala2403Thr)
|
rs1456929288
|
|
|
NM_001035.3(RYR2):c.7210_7212del (p.Pro2404del)
|
rs1681410223
|
|
|
NM_001035.3(RYR2):c.721A>G (p.Met241Val)
|
|
|
|
NM_001035.3(RYR2):c.7221+5G>A
|
|
|
|
NM_001035.3(RYR2):c.7221+5G>T
|
rs1060500153
|
|
|
NM_001035.3(RYR2):c.7225A>T (p.Ile2409Phe)
|
rs1553265773
|
|
|
NM_001035.3(RYR2):c.7232C>T (p.Ala2411Val)
|
|
|
|
NM_001035.3(RYR2):c.724_725delinsAT (p.Asp242Ile)
|
rs1060500162
|
|
|
NM_001035.3(RYR2):c.7253G>C (p.Arg2418Thr)
|
|
|
|
NM_001035.3(RYR2):c.7259G>C (p.Arg2420Thr)
|
rs1060500170
|
|
|
NM_001035.3(RYR2):c.725A>G (p.Asp242Gly)
|
rs1318491246
|
|
|
NM_001035.3(RYR2):c.725A>T (p.Asp242Val)
|
|
|
|
NM_001035.3(RYR2):c.7269G>T (p.Leu2423Phe)
|
|
|
|
NM_001035.3(RYR2):c.7276C>T (p.Leu2426Phe)
|
rs2148757954
|
|
|
NM_001035.3(RYR2):c.7277T>G (p.Leu2426Arg)
|
|
|
|
NM_001035.3(RYR2):c.7279A>G (p.Ile2427Val)
|
|
|
|
NM_001035.3(RYR2):c.727G>A (p.Glu243Lys)
|
rs794728712
|
|
|
NM_001035.3(RYR2):c.727G>C (p.Glu243Gln)
|
rs794728712
|
|
|
NM_001035.3(RYR2):c.728A>G (p.Glu243Gly)
|
rs753663342
|
|
|
NM_001035.3(RYR2):c.7291G>T (p.Asp2431Tyr)
|
rs1553265823
|
|
|
NM_001035.3(RYR2):c.7303G>A (p.Val2435Ile)
|
|
|
|
NM_001035.3(RYR2):c.7303G>C (p.Val2435Leu)
|
rs188835713
|
|
|
NM_001035.3(RYR2):c.7304T>C (p.Val2435Ala)
|
|
|
|
NM_001035.3(RYR2):c.7306A>T (p.Ile2436Phe)
|
rs1681780165
|
|
|
NM_001035.3(RYR2):c.7310G>A (p.Ser2437Asn)
|
|
|
|
NM_001035.3(RYR2):c.7312A>G (p.Ile2438Val)
|
rs755072769
|
|
|
NM_001035.3(RYR2):c.7326G>A (p.Met2442Ile)
|
rs2148758415
|
|
|
NM_001035.3(RYR2):c.7330A>G (p.Thr2444Ala)
|
rs1681783995
|
|
|
NM_001035.3(RYR2):c.733C>G (p.Leu245Val)
|
rs2149847911
|
|
|
NM_001035.3(RYR2):c.7342+6G>A
|
rs2148758542
|
|
|
NM_001035.3(RYR2):c.7342+6G>T
|
|
|
|
NM_001035.3(RYR2):c.7343-1G>T
|
rs2148789350
|
|
|
NM_001035.3(RYR2):c.7343-2A>G
|
rs778152200
|
|
|
NM_001035.3(RYR2):c.7354G>T (p.Val2452Leu)
|
|
|
|
NM_001035.3(RYR2):c.7391A>G (p.His2464Arg)
|
rs1558137849
|
|
|
NM_001035.3(RYR2):c.739G>A (p.Val247Ile)
|
rs1261194692
|
|
|
NM_001035.3(RYR2):c.7405G>A (p.Val2469Ile)
|
|
|
|
NM_001035.3(RYR2):c.7411T>C (p.Phe2471Leu)
|
rs2148789721
|
|
|
NM_001035.3(RYR2):c.7419C>G (p.Asp2473Glu)
|
|
|
|
NM_001035.3(RYR2):c.7424_7431del (p.Val2475fs)
|
|
|
|
NM_001035.3(RYR2):c.7427A>G (p.Tyr2476Cys)
|
rs1573330149
|
|
|
NM_001035.3(RYR2):c.7427A>T (p.Tyr2476Phe)
|
rs1573330149
|
|
|
NM_001035.3(RYR2):c.7433T>C (p.Ile2478Thr)
|
rs2148789857
|
|
|
NM_001035.3(RYR2):c.7438G>T (p.Val2480Phe)
|
rs774182084
|
|
|
NM_001035.3(RYR2):c.7448TCC[2] (p.Leu2485del)
|
rs1682402356
|
|
|
NM_001035.3(RYR2):c.7454T>A (p.Leu2485His)
|
rs1558138015
|
|
|
NM_001035.3(RYR2):c.7454T>C (p.Leu2485Pro)
|
|
|
|
NM_001035.3(RYR2):c.7456C>T (p.His2486Tyr)
|
rs1573330357
|
|
|
NM_001035.3(RYR2):c.7495G>T (p.Ala2499Ser)
|
rs191850147
|
|
|
NM_001035.3(RYR2):c.749G>T (p.Gly250Val)
|
rs376925177
|
|
|
NM_001035.3(RYR2):c.7505T>C (p.Leu2502Ser)
|
rs1553267788
|
|
|
NM_001035.3(RYR2):c.7510A>G (p.Thr2504Ala)
|
rs1480448087
|
|
|
NM_001035.3(RYR2):c.7512+3G>C
|
rs2148790353
|
|
|
NM_001035.3(RYR2):c.7534A>G (p.Met2512Val)
|
rs2148796155
|
|
|
NM_001035.3(RYR2):c.7535T>A (p.Met2512Lys)
|
rs778838507
|
|
|
NM_001035.3(RYR2):c.7538C>T (p.Ala2513Val)
|
|
|
|
NM_001035.3(RYR2):c.7543G>A (p.Ala2515Thr)
|
rs1682556050
|
|
|
NM_001035.3(RYR2):c.7546C>T (p.Leu2516Phe)
|
rs775400701
|
|
|
NM_001035.3(RYR2):c.7558C>A (p.Leu2520Ile)
|
rs1060500136
|
|
|
NM_001035.3(RYR2):c.755A>G (p.His252Arg)
|
rs2149848141
|
|
|
NM_001035.3(RYR2):c.7600C>G (p.Leu2534Val)
|
rs1553268221
|
|
|
NM_001035.3(RYR2):c.7601T>C (p.Leu2534Pro)
|
rs1276253444
|
|
|
NM_001035.3(RYR2):c.7606G>C (p.Ala2536Pro)
|
|
|
|
NM_001035.3(RYR2):c.7626_7627delinsCA (p.Ser2543Thr)
|
|
|
|
NM_001035.3(RYR2):c.765G>C (p.Glu255Asp)
|
|
|
|
NM_001035.3(RYR2):c.7676G>T (p.Cys2559Phe)
|
|
|
|
NM_001035.3(RYR2):c.7681C>T (p.Leu2561Phe)
|
rs2148796916
|
|
|
NM_001035.3(RYR2):c.7697G>C (p.Arg2566Pro)
|
rs532016557
|
|
|
NM_001035.3(RYR2):c.7699G>A (p.Asp2567Asn)
|
|
|
|
NM_001035.3(RYR2):c.770G>A (p.Arg257Gln)
|
rs1023176208
|
|
|
NM_001035.3(RYR2):c.7710A>C (p.Glu2570Asp)
|
|
|
|
NM_001035.3(RYR2):c.7714T>G (p.Cys2572Gly)
|
rs750011838
|
|
|
NM_001035.3(RYR2):c.773+4A>G
|
rs1702097862
|
|
|
NM_001035.3(RYR2):c.7734-19_7734-16dup
|
|
|
|
NM_001035.3(RYR2):c.7734-4A>G
|
rs913227817
|
|
|
NM_001035.3(RYR2):c.7736A>G (p.Gln2579Arg)
|
rs1573345482
|
|
|
NM_001035.3(RYR2):c.774-17T>G
|
|
|
|
NM_001035.3(RYR2):c.7742G>A (p.Arg2581Lys)
|
rs1682718413
|
|
|
NM_001035.3(RYR2):c.7754T>C (p.Met2585Thr)
|
rs1682720451
|
|
|
NM_001035.3(RYR2):c.776C>T (p.Thr259Ile)
|
rs758585307
|
|
|
NM_001035.3(RYR2):c.7774T>G (p.Leu2592Val)
|
rs761019645
|
|
|
NM_001035.3(RYR2):c.7783G>A (p.Asp2595Asn)
|
|
|
|
NM_001035.3(RYR2):c.7784A>G (p.Asp2595Gly)
|
rs2148804103
|
|
|
NM_001035.3(RYR2):c.7808C>T (p.Ala2603Val)
|
rs752607318
|
|
|
NM_001035.3(RYR2):c.7819C>G (p.Leu2607Val)
|
rs1682727518
|
|
|
NM_001035.3(RYR2):c.7825-1G>A
|
|
|
|
NM_001035.3(RYR2):c.7856A>T (p.Lys2619Ile)
|
rs2148817475
|
|
|
NM_001035.3(RYR2):c.7874G>C (p.Gly2625Ala)
|
rs1331814541
|
|
|
NM_001035.3(RYR2):c.7878G>T (p.Gly2626=)
|
rs1553269593
|
|
|
NM_001035.3(RYR2):c.7895C>T (p.Ala2632Val)
|
rs1218556750
|
|
|
NM_001035.3(RYR2):c.7897G>A (p.Ala2633Thr)
|
rs1683042825
|
|
|
NM_001035.3(RYR2):c.7927A>C (p.Lys2643Gln)
|
|
|
|
NM_001035.3(RYR2):c.792_800del (p.Gly265_Val267del)
|
rs1305758482
|
|
|
NM_001035.3(RYR2):c.7940G>T (p.Gly2647Val)
|
rs776908944
|
|
|
NM_001035.3(RYR2):c.7952C>T (p.Ala2651Val)
|
rs1259240846
|
|
|
NM_001035.3(RYR2):c.7958C>A (p.Ser2653Tyr)
|
rs1553269691
|
|
|
NM_001035.3(RYR2):c.7966-1G>C
|
rs1553270488
|
|
|
NM_001035.3(RYR2):c.7966-2A>G
|
|
|
|
NM_001035.3(RYR2):c.7984T>G (p.Phe2662Val)
|
rs2148823138
|
|
|
NM_001035.3(RYR2):c.7996C>A (p.Leu2666Met)
|
rs370333448
|
|
|
NM_001035.3(RYR2):c.799G>T (p.Val267Leu)
|
|
|
|
NM_001035.3(RYR2):c.8000C>G (p.Pro2667Arg)
|
rs1683196054
|
|
|
NM_001035.3(RYR2):c.8014G>C (p.Val2672Leu)
|
rs1467546989
|
|
|
NM_001035.3(RYR2):c.801_802delinsAA (p.Ser268Thr)
|
rs2150028824
|
|
|
NM_001035.3(RYR2):c.8033C>T (p.Pro2678Leu)
|
|
|
|
NM_001035.3(RYR2):c.8038T>G (p.Tyr2680Asp)
|
rs181732213
|
|
|
NM_001035.3(RYR2):c.8060G>T (p.Ser2687Ile)
|
|
|
|
NM_001035.3(RYR2):c.8073del (p.Lys2691fs)
|
|
|
|
NM_001035.3(RYR2):c.8075A>T (p.Gln2692Leu)
|
|
|
|
NM_001035.3(RYR2):c.80C>G (p.Thr27Ser)
|
rs1399536009
|
|
|
NM_001035.3(RYR2):c.811G>A (p.Ala271Thr)
|
|
|
|
NM_001035.3(RYR2):c.8120A>G (p.Asp2707Gly)
|
|
|
|
NM_001035.3(RYR2):c.8129+4T>C
|
rs1683207512
|
|
|
NM_001035.3(RYR2):c.814C>T (p.Arg272Cys)
|
rs771847292
|
|
|
NM_001035.3(RYR2):c.8155T>C (p.Tyr2719His)
|
|
|
|
NM_001035.3(RYR2):c.815G>A (p.Arg272His)
|
rs377368967
|
|
|
NM_001035.3(RYR2):c.8176G>A (p.Glu2726Lys)
|
rs1683416070
|
|
|
NM_001035.3(RYR2):c.8188G>A (p.Asp2730Asn)
|
rs1683417536
|
|
|
NM_001035.3(RYR2):c.818C>T (p.Ser273Phe)
|
rs794728715
|
|
|
NM_001035.3(RYR2):c.8195G>T (p.Trp2732Leu)
|
rs1553271224
|
|
|
NM_001035.3(RYR2):c.8204A>G (p.Asp2735Gly)
|
rs1213772557
|
|
|
NM_001035.3(RYR2):c.8208+1G>A
|
rs1683419269
|
|
|
NM_001035.3(RYR2):c.820C>G (p.Leu274Val)
|
|
|
|
NM_001035.3(RYR2):c.8210T>A (p.Leu2737Ter)
|
|
|
|
NM_001035.3(RYR2):c.8222G>A (p.Trp2741Ter)
|
|
|
|
NM_001035.3(RYR2):c.8228A>C (p.Tyr2743Ser)
|
|
|
|
NM_001035.3(RYR2):c.8231G>A (p.Gly2744Glu)
|
|
|
|
NM_001035.3(RYR2):c.824G>A (p.Trp275Ter)
|
rs2150028964
|
|
|
NM_001035.3(RYR2):c.8262G>T (p.Gln2754His)
|
rs773748242
|
|
|
NM_001035.3(RYR2):c.8298+1G>T
|
|
|
|
NM_001035.3(RYR2):c.8309T>A (p.Ile2770Asn)
|
|
|
|
NM_001035.3(RYR2):c.8315G>A (p.Arg2772His)
|
|
|
|
NM_001035.3(RYR2):c.8315G>T (p.Arg2772Leu)
|
rs922927449
|
|
|
NM_001035.3(RYR2):c.8332T>C (p.Ser2778Pro)
|
rs1573391679
|
|
|
NM_001035.3(RYR2):c.833A>G (p.Glu278Gly)
|
|
|
|
NM_001035.3(RYR2):c.8342C>G (p.Thr2781Ser)
|
rs369963696
|
|
|
NM_001035.3(RYR2):c.8344A>G (p.Met2782Val)
|
|
|
|
NM_001035.3(RYR2):c.8346G>A (p.Met2782Ile)
|
rs1683716140
|
|
|
NM_001035.3(RYR2):c.8350G>T (p.Ala2784Ser)
|
rs1458501318
|
|
|
NM_001035.3(RYR2):c.8353T>C (p.Trp2785Arg)
|
|
|
|
NM_001035.3(RYR2):c.8357G>T (p.Gly2786Val)
|
rs1060500149
|
|
|
NM_001035.3(RYR2):c.8366T>C (p.Ile2789Thr)
|
rs1419719746
|
|
|
NM_001035.3(RYR2):c.8372G>T (p.Arg2791Ile)
|
rs2148846476
|
|
|
NM_001035.3(RYR2):c.8380G>C (p.Glu2794Gln)
|
rs2148846514
|
|
|
NM_001035.3(RYR2):c.8389A>G (p.Ser2797Gly)
|
|
|
|
NM_001035.3(RYR2):c.8396C>G (p.Ala2799Gly)
|
|
|
|
NM_001035.3(RYR2):c.8399T>C (p.Leu2800Pro)
|
|
|
|
NM_001035.3(RYR2):c.839T>C (p.Leu280Pro)
|
rs794728716
|
|
|
NM_001035.3(RYR2):c.8413C>T (p.Arg2805Cys)
|
|
|
|
NM_001035.3(RYR2):c.8416C>A (p.Arg2806Ser)
|
rs727504134
|
|
|
NM_001035.3(RYR2):c.8434C>T (p.Gln2812Ter)
|
|
|
|
NM_001035.3(RYR2):c.8437-3T>A
|
rs924080705
|
|
|
NM_001035.3(RYR2):c.8453C>T (p.Ala2818Val)
|
rs794728759
|
|
|
NM_001035.3(RYR2):c.8471G>A (p.Arg2824Gln)
|
|
|
|
NM_001035.3(RYR2):c.8473G>T (p.Ala2825Ser)
|
rs1553274352
|
|
|
NM_001035.3(RYR2):c.848+1G>C
|
rs772984053
|
|
|
NM_001035.3(RYR2):c.8482A>G (p.Met2828Val)
|
rs948094250
|
|
|
NM_001035.3(RYR2):c.848C>G (p.Ala283Gly)
|
|
|
|
NM_001035.3(RYR2):c.84C>G (p.Ile28Met)
|
|
|
|
NM_001035.3(RYR2):c.8503A>G (p.Arg2835Gly)
|
rs2148872889
|
|
|
NM_001035.3(RYR2):c.8508C>A (p.Asp2836Glu)
|
rs757197730
|
|
|
NM_001035.3(RYR2):c.8514+1G>C
|
|
|
|
NM_001035.3(RYR2):c.8519T>C (p.Met2840Thr)
|
|
|
|
NM_001035.3(RYR2):c.8522C>A (p.Ala2841Glu)
|
|
|
|
NM_001035.3(RYR2):c.8543A>G (p.Tyr2848Cys)
|
rs2148878470
|
|
|
NM_001035.3(RYR2):c.8554T>C (p.Trp2852Arg)
|
|
|
|
NM_001035.3(RYR2):c.8573TGGAGT[1] (p.Leu2860_Glu2861del)
|
rs794728835
|
|
|
NM_001035.3(RYR2):c.8575G>C (p.Glu2859Gln)
|
|
|
|
NM_001035.3(RYR2):c.8590+18C>A
|
rs376966521
|
|
|
NM_001035.3(RYR2):c.8590+5T>C
|
rs2148878658
|
|
|
NM_001035.3(RYR2):c.8590+6A>G
|
rs1684469954
|
|
|
NM_001035.3(RYR2):c.8591G>A (p.Gly2864Glu)
|
rs1186402933
|
|
|
NM_001035.3(RYR2):c.8596_8598del
|
rs794728836
|
|
|
NM_001035.3(RYR2):c.8599A>C (p.Asn2867His)
|
rs1685187563
|
|
|
NM_001035.3(RYR2):c.8617C>T (p.Pro2873Ser)
|
rs1031049689
|
|
|
NM_001035.3(RYR2):c.8618C>T (p.Pro2873Leu)
|
|
|
|
NM_001035.3(RYR2):c.8641G>A (p.Glu2881Lys)
|
rs1685192501
|
|
|
NM_001035.3(RYR2):c.8653G>T (p.Asp2885Tyr)
|
rs2148908834
|
|
|
NM_001035.3(RYR2):c.8677C>G (p.Leu2893Val)
|
rs1573463670
|
|
|
NM_001035.3(RYR2):c.8683T>C (p.Phe2895Leu)
|
|
|
|
NM_001035.3(RYR2):c.8713A>G (p.Arg2905Gly)
|
|
|
|
NM_001035.3(RYR2):c.8714+6A>G
|
rs1573463852
|
|
|
NM_001035.3(RYR2):c.8727C>G (p.Asp2909Glu)
|
rs1685250255
|
|
|
NM_001035.3(RYR2):c.8750T>C (p.Ile2917Thr)
|
|
|
|
NM_001035.3(RYR2):c.8759G>A (p.Arg2920Gln)
|
rs756302327
|
|
|
NM_001035.3(RYR2):c.8759G>C (p.Arg2920Pro)
|
rs756302327
|
|
|
NM_001035.3(RYR2):c.8767T>G (p.Tyr2923Asp)
|
|
|
|
NM_001035.3(RYR2):c.8768A>G (p.Tyr2923Cys)
|
rs926338576
|
|
|
NM_001035.3(RYR2):c.8785C>T (p.Leu2929Phe)
|
rs2148911764
|
|
|
NM_001035.3(RYR2):c.8792G>A (p.Arg2931His)
|
rs905226907
|
|
|
NM_001035.3(RYR2):c.8795A>T (p.Tyr2932Phe)
|
|
|
|
NM_001035.3(RYR2):c.8801A>G (p.Asp2934Gly)
|
|
|
|
NM_001035.3(RYR2):c.8810A>G (p.His2937Arg)
|
|
|
|
NM_001035.3(RYR2):c.8813A>G (p.Gln2938Arg)
|
rs1685257592
|
|
|
NM_001035.3(RYR2):c.8818A>G (p.Ile2940Val)
|
|
|
|
NM_001035.3(RYR2):c.8819T>C (p.Ile2940Thr)
|
|
|
|
NM_001035.3(RYR2):c.8830+4G>A
|
|
|
|
NM_001035.3(RYR2):c.8846G>T (p.Gly2949Val)
|
rs1399706297
|
|
|
NM_001035.3(RYR2):c.8879T>A (p.Ile2960Asn)
|
rs759048462
|
|
|
NM_001035.3(RYR2):c.887G>A (p.Arg296Gln)
|
rs1705763277
|
|
|
NM_001035.3(RYR2):c.8886C>A (p.Phe2962Leu)
|
rs372703473
|
|
|
NM_001035.3(RYR2):c.8896-1G>A
|
rs2148936331
|
|
|
NM_001035.3(RYR2):c.8911A>G (p.Ile2971Val)
|
rs1685776923
|
|
|
NM_001035.3(RYR2):c.8921A>G (p.Tyr2974Cys)
|
rs1685778254
|
|
|
NM_001035.3(RYR2):c.8926A>C (p.Lys2976Gln)
|
|
|
|
NM_001035.3(RYR2):c.8926A>G (p.Lys2976Glu)
|
|
|
|
NM_001035.3(RYR2):c.8927A>G (p.Lys2976Arg)
|
rs1558206523
|
|
|
NM_001035.3(RYR2):c.8935C>T (p.Arg2979Cys)
|
rs1685779180
|
|
|
NM_001035.3(RYR2):c.893G>T (p.Arg298Leu)
|
rs754259295
|
|
|
NM_001035.3(RYR2):c.8955A>G (p.Ala2985=)
|
|
|
|
NM_001035.3(RYR2):c.8972G>A (p.Cys2991Tyr)
|
rs1685782698
|
|
|
NM_001035.3(RYR2):c.8995A>G (p.Lys2999Glu)
|
|
|
|
NM_001035.3(RYR2):c.9003del (p.Glu3002fs)
|
|
|
|
NM_001035.3(RYR2):c.9017+6C>T
|
rs1685786232
|
|
|
NM_001035.3(RYR2):c.9028A>G (p.Lys3010Glu)
|
rs1686529459
|
|
|
NM_001035.3(RYR2):c.902C>G (p.Thr301Arg)
|
|
|
|
NM_001035.3(RYR2):c.9037G>A (p.Val3013Ile)
|
|
|
|
NM_001035.3(RYR2):c.9043G>C (p.Val3015Leu)
|
rs1490052579
|
|
|
NM_001035.3(RYR2):c.9044T>G (p.Val3015Gly)
|
|
|
|
NM_001035.3(RYR2):c.904A>G (p.Thr302Ala)
|
rs1178740695
|
|
|
NM_001035.3(RYR2):c.9068G>T (p.Gly3023Val)
|
rs1687729156
|
|
|
NM_001035.3(RYR2):c.9072T>A (p.Asn3024Lys)
|
|
|
|
NM_001035.3(RYR2):c.9073G>A (p.Asp3025Asn)
|
rs1687730026
|
|
|
NM_001035.3(RYR2):c.9079A>G (p.Thr3027Ala)
|
|
|
|
NM_001035.3(RYR2):c.9095G>C (p.Cys3032Ser)
|
|
|
|
NM_001035.3(RYR2):c.9095_9098del (p.Cys3032fs)
|
|
|
|
NM_001035.3(RYR2):c.910A>G (p.Lys304Glu)
|
|
|
|
NM_001035.3(RYR2):c.9116C>G (p.Thr3039Ser)
|
|
|
|
NM_001035.3(RYR2):c.9125C>A (p.Ala3042Glu)
|
rs794728762
|
|
|
NM_001035.3(RYR2):c.9128+5del
|
rs1553289116
|
|
|
NM_001035.3(RYR2):c.9129G>A (p.Arg3043=)
|
rs1687847434
|
|
|
NM_001035.3(RYR2):c.9134T>C (p.Val3045Ala)
|
rs1687848357
|
|
|
NM_001035.3(RYR2):c.9148C>A (p.Leu3050Met)
|
|
|
|
NM_001035.3(RYR2):c.917T>G (p.Leu306Trp)
|
rs2150058362
|
|
|
NM_001035.3(RYR2):c.9182T>G (p.Leu3061Arg)
|
rs1687852877
|
|
|
NM_001035.3(RYR2):c.9187A>G (p.Asn3063Asp)
|
rs889751102
|
|
|
NM_001035.3(RYR2):c.919A>G (p.Ser307Gly)
|
|
|
|
NM_001035.3(RYR2):c.9214A>G (p.Met3072Val)
|
|
|
|
NM_001035.3(RYR2):c.9215T>C (p.Met3072Thr)
|
rs2149031471
|
|
|
NM_001035.3(RYR2):c.9221A>C (p.Asn3074Thr)
|
|
|
|
NM_001035.3(RYR2):c.9223C>A (p.Leu3075Ile)
|
rs1243072954
|
|
|
NM_001035.3(RYR2):c.9301C>G (p.Leu3101Val)
|
|
|
|
NM_001035.3(RYR2):c.9303dup (p.Leu3102fs)
|
|
|
|
NM_001035.3(RYR2):c.9308C>G (p.Pro3103Arg)
|
rs1208496897
|
|
|
NM_001035.3(RYR2):c.9308C>T (p.Pro3103Leu)
|
rs1208496897
|
|
|
NM_001035.3(RYR2):c.9312G>C (p.Met3104Ile)
|
rs1687864137
|
|
|
NM_001035.3(RYR2):c.9317_9318delinsTG (p.Ser3106Leu)
|
rs1687864745
|
|
|
NM_001035.3(RYR2):c.9340C>T (p.Gln3114Ter)
|
|
|
|
NM_001035.3(RYR2):c.9346C>T (p.Gln3116Ter)
|
|
|
|
NM_001035.3(RYR2):c.9358G>C (p.Asp3120His)
|
rs794728764
|
|
|
NM_001035.3(RYR2):c.9366A>G (p.Ile3122Met)
|
rs1687868751
|
|
|
NM_001035.3(RYR2):c.9367+4T>C
|
rs1687869394
|
|
|
NM_001035.3(RYR2):c.9367+6T>C
|
|
|
|
NM_001035.3(RYR2):c.9367T>C (p.Leu3123=)
|
rs2149032196
|
|
|
NM_001035.3(RYR2):c.9368-11T>C
|
|
|
|
NM_001035.3(RYR2):c.9368-12_9368-11del
|
|
|
|
NM_001035.3(RYR2):c.9392A>C (p.Tyr3131Ser)
|
|
|
|
NM_001035.3(RYR2):c.9392A>G (p.Tyr3131Cys)
|
rs1342384519
|
|
|
NM_001035.3(RYR2):c.9412T>C (p.Tyr3138His)
|
rs794728765
|
|
|
NM_001035.3(RYR2):c.942_944del (p.Leu316del)
|
rs749937926
|
|
|
NM_001035.3(RYR2):c.9432G>C (p.Lys3144Asn)
|
|
|
|
NM_001035.3(RYR2):c.9434G>T (p.Ser3145Ile)
|
rs1688011604
|
|
|
NM_001035.3(RYR2):c.9449+6A>G
|
rs2149038687
|
|
|
NM_001035.3(RYR2):c.9455G>A (p.Arg3152His)
|
|
|
|
NM_001035.3(RYR2):c.9457T>C (p.Ser3153Pro)
|
|
|
|
NM_001035.3(RYR2):c.9458C>T (p.Ser3153Phe)
|
|
|
|
NM_001035.3(RYR2):c.9478G>C (p.Ala3160Pro)
|
rs1444464397
|
|
|
NM_001035.3(RYR2):c.9494C>T (p.Ala3165Val)
|
|
|
|
NM_001035.3(RYR2):c.949A>G (p.Met317Val)
|
rs754558924
|
|
|
NM_001035.3(RYR2):c.94C>A (p.Gln32Lys)
|
rs1553373926
|
|
|
NM_001035.3(RYR2):c.9502G>A (p.Val3168Ile)
|
rs1473666484
|
|
|
NM_001035.3(RYR2):c.9506C>A (p.Ala3169Glu)
|
|
|
|
NM_001035.3(RYR2):c.9508T>C (p.Phe3170Leu)
|
|
|
|
NM_001035.3(RYR2):c.9517A>C (p.Thr3173Pro)
|
|
|
|
NM_001035.3(RYR2):c.9521A>G (p.His3174Arg)
|
|
|
|
NM_001035.3(RYR2):c.9559A>T (p.Lys3187Ter)
|
rs939109036
|
|
|
NM_001035.3(RYR2):c.9568C>T (p.Arg3190Ter)
|
rs1484075889
|
|
|
NM_001035.3(RYR2):c.9580+6A>C
|
rs2149050610
|
|
|
NM_001035.3(RYR2):c.9580+6A>G
|
|
|
|
NM_001035.3(RYR2):c.9586del (p.Ser3196fs)
|
|
|
|
NM_001035.3(RYR2):c.9590T>C (p.Leu3197Ser)
|
|
|
|
NM_001035.3(RYR2):c.9599A>C (p.Asn3200Thr)
|
rs1688433173
|
|
|
NM_001035.3(RYR2):c.9614G>T (p.Cys3205Phe)
|
rs2149058149
|
|
|
NM_001035.3(RYR2):c.9625C>T (p.Pro3209Ser)
|
rs767375014
|
|
|
NM_001035.3(RYR2):c.9642_9643delinsT (p.Met3215fs)
|
rs1558258790
|
|
|
NM_001035.3(RYR2):c.9645G>A (p.Met3215Ile)
|
rs1688437148
|
|
|
NM_001035.3(RYR2):c.9645G>T (p.Met3215Ile)
|
|
|
|
NM_001035.3(RYR2):c.9676A>G (p.Ile3226Val)
|
|
|
|
NM_001035.3(RYR2):c.9680G>C (p.Arg3227Pro)
|
|
|
|
NM_001035.3(RYR2):c.9683A>G (p.Tyr3228Cys)
|
|
|
|
NM_001035.3(RYR2):c.9693G>A (p.Met3231Ile)
|
rs748858246
|
|
|
NM_001035.3(RYR2):c.9693G>T (p.Met3231Ile)
|
rs748858246
|
|
|
NM_001035.3(RYR2):c.9694C>T (p.Pro3232Ser)
|
rs1688442582
|
|
|
NM_001035.3(RYR2):c.9698A>G (p.His3233Arg)
|
rs1386204884
|
|
|
NM_001035.3(RYR2):c.969T>G (p.Asp323Glu)
|
|
|
|
NM_001035.3(RYR2):c.9701T>C (p.Val3234Ala)
|
|
|
|
NM_001035.3(RYR2):c.9703A>T (p.Met3235Leu)
|
rs773957909
|
|
|
NM_001035.3(RYR2):c.9722T>C (p.Met3241Thr)
|
|
|
|
NM_001035.3(RYR2):c.9724C>T (p.Leu3242Phe)
|
rs1060500147
|
|
|
NM_001035.3(RYR2):c.9765G>C (p.Glu3255Asp)
|
rs1558259322
|
|
|
NM_001035.3(RYR2):c.9787A>T (p.Met3263Leu)
|
rs1014875855
|
|
|
NM_001035.3(RYR2):c.9799G>A (p.Ala3267Thr)
|
|
|
|
NM_001035.3(RYR2):c.9800C>T (p.Ala3267Val)
|
rs2149059247
|
|
|
NM_001035.3(RYR2):c.9808T>A (p.Ser3270Thr)
|
|
|
|
NM_001035.3(RYR2):c.9824C>T (p.Thr3275Ile)
|
rs756918556
|
|
|
NM_001035.3(RYR2):c.9826C>T (p.Leu3276Phe)
|
|
|
|
NM_001035.3(RYR2):c.9830T>C (p.Leu3277Pro)
|
|
|
|
NM_001035.3(RYR2):c.9844A>G (p.Lys3282Glu)
|
|
|
|
NM_001035.3(RYR2):c.9848T>C (p.Ile3283Thr)
|
|
|
|
NM_001035.3(RYR2):c.9850A>G (p.Ile3284Val)
|
rs1688456675
|
|
|
NM_001035.3(RYR2):c.9884G>A (p.Trp3295Ter)
|
rs2149059730
|
|
|
NM_001035.3(RYR2):c.9886A>T (p.Met3296Leu)
|
rs1688459724
|
|
|
NM_001035.3(RYR2):c.9887T>C (p.Met3296Thr)
|
rs876661390
|
|
|
NM_001035.3(RYR2):c.9918A>G (p.Ile3306Met)
|
|
|
|
NM_001035.3(RYR2):c.9922A>G (p.Asn3308Asp)
|
rs1688594106
|
|
|
NM_001035.3(RYR2):c.9926A>G (p.Lys3309Arg)
|
rs2149066547
|
|
|
NM_001035.3(RYR2):c.9948A>C (p.Lys3316Asn)
|
|
|
|
NM_001035.3(RYR2):c.9958T>G (p.Leu3320Val)
|
rs986776770
|
|
|
NM_001035.3(RYR2):c.9967A>G (p.Met3323Val)
|
rs773288086
|
|
|
NM_001035.3(RYR2):c.9974A>G (p.Lys3325Arg)
|
rs1427986585
|
|
|
NM_001035.3(RYR2):c.9982A>G (p.Lys3328Glu)
|
rs763136948
|
|
|
NM_001035.3(RYR2):c.9988G>A (p.Ala3330Thr)
|
rs1688598517
|
|
|
NM_001035.3(RYR2):c.9992C>A (p.Ala3331Asp)
|
|
|
|
NM_001042475.3(CEP85L):c.1020+17310T>C
|
rs920627366
|
|
|
NM_001042475.3(CEP85L):c.1020+17353T>C
|
rs1778321580
|
|
|
NM_001103.4(ACTN2):c.1002G>C (p.Lys334Asn)
|
|
|
|
NM_001103.4(ACTN2):c.1009G>A (p.Glu337Lys)
|
rs760884869
|
|
|
NM_001103.4(ACTN2):c.103G>A (p.Ala35Thr)
|
|
|
|
NM_001103.4(ACTN2):c.1069C>T (p.Arg357Cys)
|
|
|
|
NM_001103.4(ACTN2):c.107G>A (p.Trp36Ter)
|
rs2102851395
|
|
|
NM_001103.4(ACTN2):c.1102G>C (p.Val368Leu)
|
|
|
|
NM_001103.4(ACTN2):c.1107+5G>A
|
|
|
|
NM_001103.4(ACTN2):c.1107+5G>T
|
rs2102922727
|
|
|
NM_001103.4(ACTN2):c.1108-10A>G
|
rs397516564
|
|
|
NM_001103.4(ACTN2):c.1108G>A (p.Asp370Asn)
|
rs776851017
|
|
|
NM_001103.4(ACTN2):c.1109A>T (p.Asp370Val)
|
|
|
|
NM_001103.4(ACTN2):c.1112T>C (p.Ile371Thr)
|
|
|
|
NM_001103.4(ACTN2):c.1135G>A (p.Glu379Lys)
|
rs1659115252
|
|
|
NM_001103.4(ACTN2):c.1150_1215dup (p.Gly384_Lys405dup)
|
rs2102927362
|
|
|
NM_001103.4(ACTN2):c.1162T>G (p.Trp388Gly)
|
rs376144003
|
|
|
NM_001103.4(ACTN2):c.1167_1168del (p.Leu389fs)
|
rs2102927402
|
|
|
NM_001103.4(ACTN2):c.1169T>A (p.Leu390His)
|
rs1479627329
|
|
|
NM_001103.4(ACTN2):c.1184del (p.Arg395fs)
|
rs2102927467
|
|
|
NM_001103.4(ACTN2):c.1192C>G (p.Arg398Gly)
|
rs148189507
|
|
|
NM_001103.4(ACTN2):c.1198G>A (p.Glu400Lys)
|
|
|
|
NM_001103.4(ACTN2):c.1204C>G (p.Leu402Val)
|
rs1304791812
|
|
|
NM_001103.4(ACTN2):c.1210_1212delinsAAA (p.Glu404Lys)
|
rs1558243133
|
|
|
NM_001103.4(ACTN2):c.1212G>T (p.Glu404Asp)
|
rs1379352019
|
|
|
NM_001103.4(ACTN2):c.1219A>G (p.Arg407Gly)
|
|
|
|
NM_001103.4(ACTN2):c.1226A>G (p.Lys409Arg)
|
rs863225115
|
|
|
NM_001103.4(ACTN2):c.122G>A (p.Arg41Lys)
|
rs781746567
|
|
|
NM_001103.4(ACTN2):c.1232C>A (p.Ser411Ter)
|
rs748441967
|
|
|
NM_001103.4(ACTN2):c.1242G>T (p.Glu414Asp)
|
rs775057676
|
|
|
NM_001103.4(ACTN2):c.1255+1G>C
|
rs1367331045
|
|
|
NM_001103.4(ACTN2):c.1255+3A>G
|
|
|
|
NM_001103.4(ACTN2):c.1255+4A>C
|
rs1659121549
|
|
|
NM_001103.4(ACTN2):c.1255+5G>T
|
|
|
|
NM_001103.4(ACTN2):c.1255+6T>G
|
rs1572135675
|
|
|
NM_001103.4(ACTN2):c.1255G>A (p.Gly419Ser)
|
rs1164161500
|
|
|
NM_001103.4(ACTN2):c.1256-3C>T
|
rs1553303028
|
|
|
NM_001103.4(ACTN2):c.126+2T>G
|
|
|
|
NM_001103.4(ACTN2):c.126+3C>T
|
rs1665886801
|
|
|
NM_001103.4(ACTN2):c.1262A>G (p.Glu421Gly)
|
rs2102929760
|
|
|
NM_001103.4(ACTN2):c.1263G>T (p.Glu421Asp)
|
rs572642643
|
|
|
NM_001103.4(ACTN2):c.1264C>T (p.Gln422Ter)
|
rs1659170214
|
|
|
NM_001103.4(ACTN2):c.1274T>C (p.Leu425Pro)
|
rs1572137003
|
|
|
NM_001103.4(ACTN2):c.1287C>G (p.Tyr429Ter)
|
rs764881077
|
|
|
NM_001103.4(ACTN2):c.1294G>C (p.Ala432Pro)
|
|
|
|
NM_001103.4(ACTN2):c.1304C>T (p.Thr435Ile)
|
|
|
|
NM_001103.4(ACTN2):c.130T>C (p.Phe44Leu)
|
|
|
|
NM_001103.4(ACTN2):c.1337C>A (p.Ala446Glu)
|
rs767041933
|
|
|
NM_001103.4(ACTN2):c.1341C>G (p.Phe447Leu)
|
rs34785693
|
|
|
NM_001103.4(ACTN2):c.1347C>A (p.Ser449Arg)
|
|
|
|
NM_001103.4(ACTN2):c.1348G>T (p.Asp450Tyr)
|
rs774252565
|
|
|
NM_001103.4(ACTN2):c.1349A>G (p.Asp450Gly)
|
|
|
|
NM_001103.4(ACTN2):c.1370G>A (p.Arg457His)
|
rs781559530
|
|
|
NM_001103.4(ACTN2):c.1370G>T (p.Arg457Leu)
|
|
|
|
NM_001103.4(ACTN2):c.1379A>G (p.Gln460Arg)
|
rs1659176119
|
|
|
NM_001103.4(ACTN2):c.1384G>A (p.Ala462Thr)
|
rs376923220
|
|
|
NM_001103.4(ACTN2):c.1388C>G (p.Ala463Gly)
|
|
|
|
NM_001103.4(ACTN2):c.1406+11A>G
|
rs2102930160
|
|
|
NM_001103.4(ACTN2):c.1407-541_1446del
|
rs1572139563
|
|
|
NM_001103.4(ACTN2):c.1421A>G (p.His474Arg)
|
|
|
|
NM_001103.4(ACTN2):c.143G>C (p.Cys48Ser)
|
rs794728959
|
|
|
NM_001103.4(ACTN2):c.143_144del (p.Trp47_Cys48insTer)
|
|
|
|
NM_001103.4(ACTN2):c.1442A>G (p.Asp481Gly)
|
rs1057518451
|
|
|
NM_001103.4(ACTN2):c.1457T>C (p.Ile486Thr)
|
rs1659279364
|
|
|
NM_001103.4(ACTN2):c.1460G>T (p.Cys487Phe)
|
rs727504619
|
|
|
NM_001103.4(ACTN2):c.1462G>T (p.Asp488Tyr)
|
rs1553303427
|
|
|
NM_001103.4(ACTN2):c.1465C>T (p.Gln489Ter)
|
rs1659279726
|
|
|
NM_001103.4(ACTN2):c.1469G>A (p.Trp490Ter)
|
rs1572140129
|
|
|
NM_001103.4(ACTN2):c.1473C>G (p.Asp491Glu)
|
|
|
|
NM_001103.4(ACTN2):c.1474C>T (p.Arg492Ter)
|
|
|
|
NM_001103.4(ACTN2):c.1484C>A (p.Thr495Lys)
|
rs200248944
|
|
|
NM_001103.4(ACTN2):c.1494G>C (p.Gln498His)
|
rs1413564541
|
|
|
NM_001103.4(ACTN2):c.1499G>A (p.Arg500Lys)
|
|
|
|
NM_001103.4(ACTN2):c.1508C>A (p.Ala503Asp)
|
rs1572140190
|
|
|
NM_001103.4(ACTN2):c.1516-3T>C
|
rs2102936291
|
|
|
NM_001103.4(ACTN2):c.1516A>G (p.Arg506Gly)
|
rs794728967
|
|
|
NM_001103.4(ACTN2):c.1531C>G (p.Leu511Val)
|
rs2102936333
|
|
|
NM_001103.4(ACTN2):c.1532T>C (p.Leu511Pro)
|
rs786205346
|
|
|
NM_001103.4(ACTN2):c.1547A>G (p.Gln516Arg)
|
rs1272875116
|
|
|
NM_001103.4(ACTN2):c.1547A>T (p.Gln516Leu)
|
|
|
|
NM_001103.4(ACTN2):c.1563T>G (p.Phe521Leu)
|
|
|
|
NM_001103.4(ACTN2):c.1573G>T (p.Ala525Ser)
|
|
|
|
NM_001103.4(ACTN2):c.1592G>A (p.Trp531Ter)
|
|
|
|
NM_001103.4(ACTN2):c.1601G>T (p.Gly534Val)
|
rs1060503685
|
|
|
NM_001103.4(ACTN2):c.1606A>C (p.Met536Leu)
|
rs755708114
|
|
|
NM_001103.4(ACTN2):c.1606A>G (p.Met536Val)
|
|
|
|
NM_001103.4(ACTN2):c.1607T>C (p.Met536Thr)
|
|
|
|
NM_001103.4(ACTN2):c.1609G>T (p.Glu537Ter)
|
|
|
|
NM_001103.4(ACTN2):c.1614T>G (p.Asp538Glu)
|
rs368615266
|
|
|
NM_001103.4(ACTN2):c.161A>G (p.Lys54Arg)
|
|
|
|
NM_001103.4(ACTN2):c.1630A>G (p.Ile544Val)
|
|
|
|
NM_001103.4(ACTN2):c.1631T>C (p.Ile544Thr)
|
|
|
|
NM_001103.4(ACTN2):c.1637A>G (p.His546Arg)
|
rs1659325362
|
|
|
NM_001103.4(ACTN2):c.1651A>G (p.Ile551Val)
|
|
|
|
NM_001103.4(ACTN2):c.1656+1G>A
|
|
|
|
NM_001103.4(ACTN2):c.1656+3A>G
|
|
|
|
NM_001103.4(ACTN2):c.1656+4A>C
|
rs1659326105
|
|
|
NM_001103.4(ACTN2):c.1657-8G>A
|
rs753249728
|
|
|
NM_001103.4(ACTN2):c.1667C>T (p.Thr556Ile)
|
|
|
|
NM_001103.4(ACTN2):c.1670C>G (p.Ala557Gly)
|
rs1389785784
|
|
|
NM_001103.4(ACTN2):c.1670C>T (p.Ala557Val)
|
|
|
|
NM_001103.4(ACTN2):c.1686G>C (p.Lys562Asn)
|
|
|
|
NM_001103.4(ACTN2):c.1699G>A (p.Glu567Lys)
|
rs1659393136
|
|
|
NM_001103.4(ACTN2):c.16C>G (p.Pro6Ala)
|
|
|
|
NM_001103.4(ACTN2):c.16C>T (p.Pro6Ser)
|
|
|
|
NM_001103.4(ACTN2):c.1703C>T (p.Ala568Val)
|
rs776805533
|
|
|
NM_001103.4(ACTN2):c.1707C>A (p.Asp569Glu)
|
rs773915011
|
|
|
NM_001103.4(ACTN2):c.1708G>C (p.Gly570Arg)
|
|
|
|
NM_001103.4(ACTN2):c.1723A>C (p.Ile575Leu)
|
rs756815410
|
|
|
NM_001103.4(ACTN2):c.1727T>C (p.Met576Thr)
|
rs1572143354
|
|
|
NM_001103.4(ACTN2):c.1730C>A (p.Ala577Asp)
|
|
|
|
NM_001103.4(ACTN2):c.1735C>T (p.Gln579Ter)
|
|
|
|
NM_001103.4(ACTN2):c.173A>G (p.Gln58Arg)
|
|
|
|
NM_001103.4(ACTN2):c.1757T>C (p.Ile586Thr)
|
|
|
|
NM_001103.4(ACTN2):c.1766ACA[1] (p.Asn590del)
|
|
|
|
NM_001103.4(ACTN2):c.1769A>G (p.Asn590Ser)
|
|
|
|
NM_001103.4(ACTN2):c.1775G>T (p.Arg592Ile)
|
rs774780856
|
|
|
NM_001103.4(ACTN2):c.1780A>G (p.Ser594Gly)
|
rs1572143496
|
|
|
NM_001103.4(ACTN2):c.1782C>G (p.Ser594Arg)
|
rs2102939707
|
|
|
NM_001103.4(ACTN2):c.17C>G (p.Pro6Arg)
|
rs2102851212
|
|
|
NM_001103.4(ACTN2):c.1808C>T (p.Thr603Ile)
|
|
|
|
NM_001103.4(ACTN2):c.1811T>C (p.Met604Thr)
|
|
|
|
NM_001103.4(ACTN2):c.1814A>G (p.Asp605Gly)
|
rs1659399290
|
|
|
NM_001103.4(ACTN2):c.1826C>T (p.Thr609Ile)
|
|
|
|
NM_001103.4(ACTN2):c.1834G>A (p.Asp612Asn)
|
|
|
|
NM_001103.4(ACTN2):c.1839+4G>C
|
|
|
|
NM_001103.4(ACTN2):c.1841T>C (p.Val614Ala)
|
|
|
|
NM_001103.4(ACTN2):c.184A>G (p.Ile62Val)
|
rs1658269503
|
|
|
NM_001103.4(ACTN2):c.1858A>G (p.Ile620Val)
|
rs1659474887
|
|
|
NM_001103.4(ACTN2):c.1859T>A (p.Ile620Asn)
|
|
|
|
NM_001103.4(ACTN2):c.1901C>T (p.Ala634Val)
|
|
|
|
NM_001103.4(ACTN2):c.1903A>G (p.Asn635Asp)
|
rs1659477097
|
|
|
NM_001103.4(ACTN2):c.1905C>A (p.Asn635Lys)
|
rs772586220
|
|
|
NM_001103.4(ACTN2):c.1907A>G (p.Glu636Gly)
|
rs1010571438
|
|
|
NM_001103.4(ACTN2):c.1909C>A (p.Arg637Ser)
|
|
|
|
NM_001103.4(ACTN2):c.190G>A (p.Glu64Lys)
|
rs2102893489
|
|
|
NM_001103.4(ACTN2):c.1916G>A (p.Arg639Lys)
|
rs1659477796
|
|
|
NM_001103.4(ACTN2):c.1919G>T (p.Arg640Leu)
|
|
|
|
NM_001103.4(ACTN2):c.1923G>T (p.Gln641His)
|
|
|
|
NM_001103.4(ACTN2):c.1940A>G (p.Asn647Ser)
|
rs2102942643
|
|
|
NM_001103.4(ACTN2):c.1943C>G (p.Ala648Gly)
|
rs1196167380
|
|
|
NM_001103.4(ACTN2):c.1948G>A (p.Gly650Arg)
|
rs1173244523
|
|
|
NM_001103.4(ACTN2):c.1951C>A (p.Pro651Thr)
|
|
|
|
NM_001103.4(ACTN2):c.1951C>T (p.Pro651Ser)
|
|
|
|
NM_001103.4(ACTN2):c.1961A>G (p.Gln654Arg)
|
|
|
|
NM_001103.4(ACTN2):c.1974+4A>G
|
|
|
|
NM_001103.4(ACTN2):c.1974G>A (p.Glu658=)
|
|
|
|
NM_001103.4(ACTN2):c.1975-2A>G
|
|
|
|
NM_001103.4(ACTN2):c.1981G>T (p.Ala661Ser)
|
rs2102943873
|
|
|
NM_001103.4(ACTN2):c.1989C>G (p.Ser663Arg)
|
|
|
|
NM_001103.4(ACTN2):c.1998G>C (p.Gln666His)
|
|
|
|
NM_001103.4(ACTN2):c.1A>G (p.Met1Val)
|
|
|
|
NM_001103.4(ACTN2):c.1_6del (p.Met1_Asn2del)
|
rs1665879389
|
|
|
NM_001103.4(ACTN2):c.2008G>A (p.Ala670Thr)
|
|
|
|
NM_001103.4(ACTN2):c.200G>A (p.Arg67Lys)
|
rs1658270003
|
|
|
NM_001103.4(ACTN2):c.2029C>T (p.Gln677Ter)
|
rs2102943969
|
|
|
NM_001103.4(ACTN2):c.2033_2036dup (p.Lys679fs)
|
rs2102943983
|
|
|
NM_001103.4(ACTN2):c.2053A>C (p.Ile685Leu)
|
|
|
|
NM_001103.4(ACTN2):c.2054TCA[1] (p.Ile686del)
|
rs749678360
|
|
|
NM_001103.4(ACTN2):c.2060_2061delinsCA (p.Asn687Thr)
|
|
|
|
NM_001103.4(ACTN2):c.2069ACA[1] (p.Asn691del)
|
rs757747164
|
|
|
NM_001103.4(ACTN2):c.2074A>G (p.Ile692Val)
|
|
|
|
NM_001103.4(ACTN2):c.2077G>A (p.Asp693Asn)
|
|
|
|
NM_001103.4(ACTN2):c.2078A>G (p.Asp693Gly)
|
rs1572146545
|
|
|
NM_001103.4(ACTN2):c.2094C>A (p.Asp698Glu)
|
rs1302931594
|
|
|
NM_001103.4(ACTN2):c.2113G>A (p.Ala705Thr)
|
rs1659517244
|
|
|
NM_001103.4(ACTN2):c.2119G>A (p.Val707Ile)
|
|
|
|
NM_001103.4(ACTN2):c.2120T>C (p.Val707Ala)
|
|
|
|
NM_001103.4(ACTN2):c.2133G>C (p.Lys711Asn)
|
|
|
|
NM_001103.4(ACTN2):c.2154+19C>T
|
|
|
|
NM_001103.4(ACTN2):c.2155-4A>G
|
rs201576900
|
|
|
NM_001103.4(ACTN2):c.2161C>G (p.Arg721Gly)
|
rs149433837
|
|
|
NM_001103.4(ACTN2):c.2161C>T (p.Arg721Cys)
|
rs149433837
|
|
|
NM_001103.4(ACTN2):c.2162G>C (p.Arg721Pro)
|
rs546431200
|
|
|
NM_001103.4(ACTN2):c.2168G>C (p.Gly723Ala)
|
rs906925808
|
|
|
NM_001103.4(ACTN2):c.2170T>C (p.Trp724Arg)
|
|
|
|
NM_001103.4(ACTN2):c.2171G>A (p.Trp724Ter)
|
|
|
|
NM_001103.4(ACTN2):c.2201C>T (p.Thr734Ile)
|
rs886046207
|
|
|
NM_001103.4(ACTN2):c.2207A>G (p.Asn736Ser)
|
|
|
|
NM_001103.4(ACTN2):c.2212G>A (p.Val738Met)
|
|
|
|
NM_001103.4(ACTN2):c.2223G>C (p.Gln741His)
|
|
|
|
NM_001103.4(ACTN2):c.2233A>T (p.Arg745Ter)
|
rs2102947099
|
|
|
NM_001103.4(ACTN2):c.2240C>T (p.Ala747Val)
|
rs1060503686
|
|
|
NM_001103.4(ACTN2):c.224T>G (p.Leu75Arg)
|
|
|
|
NM_001103.4(ACTN2):c.2264T>G (p.Met755Arg)
|
|
|
|
NM_001103.4(ACTN2):c.2279C>T (p.Ala760Val)
|
rs1572149075
|
|
|
NM_001103.4(ACTN2):c.2281T>A (p.Ser761Thr)
|
|
|
|
NM_001103.4(ACTN2):c.2289C>G (p.Asn763Lys)
|
rs745579917
|
|
|
NM_001103.4(ACTN2):c.2301+2T>C
|
rs2102947209
|
|
|
NM_001103.4(ACTN2):c.2301G>C (p.Arg767Ser)
|
|
|
|
NM_001103.4(ACTN2):c.2302A>G (p.Arg768Gly)
|
|
|
|
NM_001103.4(ACTN2):c.2336G>C (p.Arg779Thr)
|
|
|
|
NM_001103.4(ACTN2):c.235A>G (p.Ile79Val)
|
|
|
|
NM_001103.4(ACTN2):c.2368-3C>A
|
|
|
|
NM_001103.4(ACTN2):c.2368-5C>A
|
rs771427713
|
|
|
NM_001103.4(ACTN2):c.2373A>G (p.Glu791=)
|
rs2102951481
|
|
|
NM_001103.4(ACTN2):c.2387G>T (p.Arg796Leu)
|
rs772409484
|
|
|
NM_001103.4(ACTN2):c.2392A>G (p.Met798Val)
|
|
|
|
NM_001103.4(ACTN2):c.2404G>A (p.Asp802Asn)
|
|
|
|
NM_001103.4(ACTN2):c.2411A>G (p.Asn804Ser)
|
rs776329264
|
|
|
NM_001103.4(ACTN2):c.242-3C>A
|
|
|
|
NM_001103.4(ACTN2):c.2425_2430del (p.Val809_Thr810del)
|
rs1659690423
|
|
|
NM_001103.4(ACTN2):c.2428A>G (p.Thr810Ala)
|
|
|
|
NM_001103.4(ACTN2):c.242G>A (p.Gly81Glu)
|
rs1658299884
|
|
|
NM_001103.4(ACTN2):c.2434C>T (p.Gln812Ter)
|
rs2102951649
|
|
|
NM_001103.4(ACTN2):c.2436A>T (p.Gln812His)
|
|
|
|
NM_001103.4(ACTN2):c.2443A>G (p.Ile815Val)
|
|
|
|
NM_001103.4(ACTN2):c.2462A>G (p.Glu821Gly)
|
|
|
|
NM_001103.4(ACTN2):c.2465C>T (p.Thr822Met)
|
|
|
|
NM_001103.4(ACTN2):c.2468C>T (p.Ala823Val)
|
rs12072499
|
|
|
NM_001103.4(ACTN2):c.2485G>A (p.Glu829Lys)
|
rs770335717
|
|
|
NM_001103.4(ACTN2):c.2485G>T (p.Glu829Ter)
|
rs770335717
|
|
|
NM_001103.4(ACTN2):c.2488C>A (p.Gln830Lys)
|
|
|
|
NM_001103.4(ACTN2):c.2491G>C (p.Val831Leu)
|
rs2102951840
|
|
|
NM_001103.4(ACTN2):c.2498C>T (p.Ala833Val)
|
|
|
|
NM_001103.4(ACTN2):c.249G>C (p.Arg83Ser)
|
|
|
|
NM_001103.4(ACTN2):c.2513T>G (p.Leu838Arg)
|
|
|
|
NM_001103.4(ACTN2):c.2526+3C>T
|
|
|
|
NM_001103.4(ACTN2):c.2527-3C>T
|
|
|
|
NM_001103.4(ACTN2):c.2528C>A (p.Pro843Gln)
|
|
|
|
NM_001103.4(ACTN2):c.2530T>C (p.Tyr844His)
|
rs1558252775
|
|
|
NM_001103.4(ACTN2):c.2538_2539delinsTC (p.Ala847Pro)
|
rs2102953618
|
|
|
NM_001103.4(ACTN2):c.253C>T (p.Pro85Ser)
|
rs1558232396
|
|
|
NM_001103.4(ACTN2):c.2545G>A (p.Glu849Lys)
|
rs1659736554
|
|
|
NM_001103.4(ACTN2):c.2549T>G (p.Leu850Arg)
|
rs2102953648
|
|
|
NM_001103.4(ACTN2):c.2557_2569del (p.Glu853fs)
|
|
|
|
NM_001103.4(ACTN2):c.2570A>G (p.Asp857Gly)
|
|
|
|
NM_001103.4(ACTN2):c.2576C>A (p.Ala859Asp)
|
rs773297054
|
|
|
NM_001103.4(ACTN2):c.2587A>C (p.Ile863Leu)
|
rs397516577
|
|
|
NM_001103.4(ACTN2):c.2599C>T (p.Pro867Ser)
|
rs1659739403
|
|
|
NM_001103.4(ACTN2):c.2600C>T (p.Pro867Leu)
|
rs1558252869
|
|
|
NM_001103.4(ACTN2):c.2606A>G (p.Tyr869Cys)
|
|
|
|
NM_001103.4(ACTN2):c.2614C>G (p.Pro872Ala)
|
|
|
|
NM_001103.4(ACTN2):c.2614C>T (p.Pro872Ser)
|
|
|
|
NM_001103.4(ACTN2):c.2614_2616delinsGAG (p.Pro872Glu)
|
|
|
|
NM_001103.4(ACTN2):c.262G>C (p.Asp88His)
|
rs2102894794
|
|
|
NM_001103.4(ACTN2):c.2631_2632del (p.Ala878fs)
|
rs878854174
|
|
|
NM_001103.4(ACTN2):c.2652C>G (p.Phe884Leu)
|
rs1659743387
|
|
|
NM_001103.4(ACTN2):c.2653T>C (p.Ser885Pro)
|
rs863224691
|
|
|
NM_001103.4(ACTN2):c.2662C>T (p.Leu888Phe)
|
|
|
|
NM_001103.4(ACTN2):c.2673G>C (p.Glu891Asp)
|
rs1659744712
|
|
|
NM_001103.4(ACTN2):c.2674A>G (p.Ser892Gly)
|
|
|
|
NM_001103.4(ACTN2):c.2676C>G (p.Ser892Arg)
|
|
|
|
NM_001103.4(ACTN2):c.26A>C (p.Gln9Pro)
|
|
|
|
NM_001103.4(ACTN2):c.274A>G (p.Met92Val)
|
rs1658300725
|
|
|
NM_001103.4(ACTN2):c.282C>A (p.Phe94Leu)
|
|
|
|
NM_001103.4(ACTN2):c.283C>T (p.His95Tyr)
|
rs2102894844
|
|
|
NM_001103.4(ACTN2):c.297T>G (p.Asn99Lys)
|
|
|
|
NM_001103.4(ACTN2):c.303C>A (p.Asn101Lys)
|
|
|
|
NM_001103.4(ACTN2):c.31A>C (p.Asn11His)
|
rs886046205
|
|
|
NM_001103.4(ACTN2):c.320T>C (p.Ile107Thr)
|
|
|
|
NM_001103.4(ACTN2):c.322G>A (p.Ala108Thr)
|
|
|
|
NM_001103.4(ACTN2):c.325A>G (p.Ser109Gly)
|
rs1658302140
|
|
|
NM_001103.4(ACTN2):c.329A>T (p.Lys110Ile)
|
|
|
|
NM_001103.4(ACTN2):c.332G>T (p.Gly111Val)
|
rs786204949
|
|
|
NM_001103.4(ACTN2):c.335T>A (p.Val112Glu)
|
rs1658302587
|
|
|
NM_001103.4(ACTN2):c.343G>A (p.Val115Met)
|
rs397516579
|
|
|
NM_001103.4(ACTN2):c.350_351delinsCC (p.Ile117Thr)
|
rs2102894975
|
|
|
NM_001103.4(ACTN2):c.352G>A (p.Gly118Ser)
|
rs1131691370
|
|
|
NM_001103.4(ACTN2):c.353G>A (p.Gly118Asp)
|
rs794728960
|
|
|
NM_001103.4(ACTN2):c.35A>G (p.Tyr12Cys)
|
|
|
|
NM_001103.4(ACTN2):c.361+16G>A
|
|
|
|
NM_001103.4(ACTN2):c.361+8GT[3]
|
|
|
|
NM_001103.4(ACTN2):c.383A>G (p.Lys128Arg)
|
|
|
|
NM_001103.4(ACTN2):c.403T>G (p.Trp135Gly)
|
rs1060503684
|
|
|
NM_001103.4(ACTN2):c.415C>T (p.Leu139Phe)
|
rs2102896567
|
|
|
NM_001103.4(ACTN2):c.418C>T (p.Arg140Cys)
|
rs1131691439
|
|
|
NM_001103.4(ACTN2):c.425C>T (p.Ala142Val)
|
|
|
|
NM_001103.4(ACTN2):c.427A>G (p.Ile143Val)
|
rs786205453
|
|
|
NM_001103.4(ACTN2):c.439T>C (p.Ser147Pro)
|
rs886038915
|
|
|
NM_001103.4(ACTN2):c.43G>A (p.Asp15Asn)
|
|
|
|
NM_001103.4(ACTN2):c.442G>C (p.Val148Leu)
|
|
|
|
NM_001103.4(ACTN2):c.446A>G (p.Glu149Gly)
|
|
|
|
NM_001103.4(ACTN2):c.447A>C (p.Glu149Asp)
|
|
|
|
NM_001103.4(ACTN2):c.449-3_449-2insTTCT
|
|
|
|
NM_001103.4(ACTN2):c.458C>T (p.Ala153Val)
|
|
|
|
NM_001103.4(ACTN2):c.464A>C (p.Glu155Ala)
|
rs1658537536
|
|
|
NM_001103.4(ACTN2):c.496G>C (p.Ala166Pro)
|
rs794728961
|
|
|
NM_001103.4(ACTN2):c.49dup (p.Asp17fs)
|
|
|
|
NM_001103.4(ACTN2):c.510T>A (p.Asn170Lys)
|
|
|
|
NM_001103.4(ACTN2):c.533C>G (p.Thr178Ser)
|
rs1176106230
|
|
|
NM_001103.4(ACTN2):c.536+6C>T
|
rs771398006
|
|
|
NM_001103.4(ACTN2):c.537-11C>G
|
|
|
|
NM_001103.4(ACTN2):c.537-1G>A
|
rs1572121782
|
|
|
NM_001103.4(ACTN2):c.537-3A>T
|
rs2102906436
|
|
|
NM_001103.4(ACTN2):c.538T>C (p.Trp180Arg)
|
rs1558236027
|
|
|
NM_001103.4(ACTN2):c.539G>A (p.Trp180Ter)
|
|
|
|
NM_001103.4(ACTN2):c.53A>C (p.Glu18Ala)
|
rs1237522987
|
|
|
NM_001103.4(ACTN2):c.547G>T (p.Gly183Cys)
|
|
|
|
NM_001103.4(ACTN2):c.556C>G (p.Leu186Val)
|
rs371930065
|
|
|
NM_001103.4(ACTN2):c.557T>C (p.Leu186Pro)
|
rs1658594390
|
|
|
NM_001103.4(ACTN2):c.565C>T (p.Leu189Phe)
|
|
|
|
NM_001103.4(ACTN2):c.569T>G (p.Ile190Ser)
|
|
|
|
NM_001103.4(ACTN2):c.56A>G (p.Tyr19Cys)
|
|
|
|
NM_001103.4(ACTN2):c.572A>G (p.His191Arg)
|
|
|
|
NM_001103.4(ACTN2):c.573C>A (p.His191Gln)
|
rs1572121844
|
|
|
NM_001103.4(ACTN2):c.589C>T (p.Leu197Phe)
|
rs760937883
|
|
|
NM_001103.4(ACTN2):c.593T>C (p.Ile198Thr)
|
rs1658596173
|
|
|
NM_001103.4(ACTN2):c.601T>C (p.Ser201Pro)
|
rs1060503687
|
|
|
NM_001103.4(ACTN2):c.608T>A (p.Leu203His)
|
|
|
|
NM_001103.4(ACTN2):c.615+1G>C
|
rs2102906595
|
|
|
NM_001103.4(ACTN2):c.615+4_615+6del
|
|
|
|
NM_001103.4(ACTN2):c.616G>T (p.Asp206Tyr)
|
rs1658704139
|
|
|
NM_001103.4(ACTN2):c.617A>G (p.Asp206Gly)
|
rs148048699
|
|
|
NM_001103.4(ACTN2):c.619G>T (p.Asp207Tyr)
|
|
|
|
NM_001103.4(ACTN2):c.639C>A (p.Asn213Lys)
|
rs1188575946
|
|
|
NM_001103.4(ACTN2):c.646A>T (p.Met216Leu)
|
|
|
|
NM_001103.4(ACTN2):c.64C>T (p.Gln22Ter)
|
rs1553295414
|
|
|
NM_001103.4(ACTN2):c.655G>A (p.Ala219Thr)
|
rs1246542277
|
|
|
NM_001103.4(ACTN2):c.65A>G (p.Gln22Arg)
|
|
|
|
NM_001103.4(ACTN2):c.65A>T (p.Gln22Leu)
|
rs1057518609
|
|
|
NM_001103.4(ACTN2):c.674T>C (p.Ile225Thr)
|
|
|
|
NM_001103.4(ACTN2):c.674T>G (p.Ile225Ser)
|
rs1553301462
|
|
|
NM_001103.4(ACTN2):c.67G>C (p.Glu23Gln)
|
|
|
|
NM_001103.4(ACTN2):c.686T>G (p.Leu229Trp)
|
rs141793230
|
|
|
NM_001103.4(ACTN2):c.697+1G>A
|
rs113669376
|
|
|
NM_001103.4(ACTN2):c.697G>A (p.Asp233Asn)
|
rs904672923
|
|
|
NM_001103.4(ACTN2):c.698-10_1107+10del
|
|
|
|
NM_001103.4(ACTN2):c.698-11_698-10delinsAA
|
|
|
|
NM_001103.4(ACTN2):c.6C>G (p.Asn2Lys)
|
|
|
|
NM_001103.4(ACTN2):c.700A>G (p.Ile234Val)
|
rs794728963
|
|
|
NM_001103.4(ACTN2):c.701T>A (p.Ile234Asn)
|
rs2102916925
|
|
|
NM_001103.4(ACTN2):c.718_727del (p.Pro240fs)
|
rs2102916959
|
|
|
NM_001103.4(ACTN2):c.721G>A (p.Asp241Asn)
|
rs1342620732
|
|
|
NM_001103.4(ACTN2):c.763G>A (p.Ala255Thr)
|
rs1060503682
|
|
|
NM_001103.4(ACTN2):c.764C>T (p.Ala255Val)
|
|
|
|
NM_001103.4(ACTN2):c.770C>T (p.Ala257Val)
|
rs759652494
|
|
|
NM_001103.4(ACTN2):c.773G>T (p.Gly258Val)
|
|
|
|
NM_001103.4(ACTN2):c.778G>T (p.Glu260Ter)
|
|
|
|
NM_001103.4(ACTN2):c.782A>G (p.Gln261Arg)
|
|
|
|
NM_001103.4(ACTN2):c.783+4C>T
|
|
|
|
NM_001103.4(ACTN2):c.784-2A>G
|
rs794728964
|
|
|
NM_001103.4(ACTN2):c.787G>A (p.Glu263Lys)
|
|
|
|
NM_001103.4(ACTN2):c.791C>A (p.Thr264Lys)
|
|
|
|
NM_001103.4(ACTN2):c.794C>T (p.Ala265Val)
|
rs794728965
|
|
|
NM_001103.4(ACTN2):c.797C>A (p.Ala266Asp)
|
|
|
|
NM_001103.4(ACTN2):c.800A>G (p.Asn267Ser)
|
|
|
|
NM_001103.4(ACTN2):c.801C>G (p.Asn267Lys)
|
|
|
|
NM_001103.4(ACTN2):c.806T>C (p.Ile269Thr)
|
rs2102919139
|
|
|
NM_001103.4(ACTN2):c.814G>T (p.Val272Phe)
|
rs2102919141
|
|
|
NM_001103.4(ACTN2):c.826A>G (p.Asn276Asp)
|
rs876657743
|
|
|
NM_001103.4(ACTN2):c.827A>T (p.Asn276Ile)
|
|
|
|
NM_001103.4(ACTN2):c.82C>T (p.Arg28Cys)
|
rs730880040
|
|
|
NM_001103.4(ACTN2):c.836A>C (p.Asn279Thr)
|
|
|
|
NM_001103.4(ACTN2):c.842G>A (p.Arg281Lys)
|
rs1022501985
|
|
|
NM_001103.4(ACTN2):c.857A>G (p.Tyr286Cys)
|
|
|
|
NM_001103.4(ACTN2):c.85G>A (p.Asp29Asn)
|
|
|
|
NM_001103.4(ACTN2):c.863G>A (p.Arg288Lys)
|
|
|
|
NM_001103.4(ACTN2):c.868G>A (p.Ala290Thr)
|
|
|
|
NM_001103.4(ACTN2):c.876+1G>A
|
|
|
|
NM_001103.4(ACTN2):c.876+6G>A
|
rs1658906175
|
|
|
NM_001103.4(ACTN2):c.877-3C>A
|
|
|
|
NM_001103.4(ACTN2):c.877-3C>T
|
rs1174167762
|
|
|
NM_001103.4(ACTN2):c.877-6G>C
|
|
|
|
NM_001103.4(ACTN2):c.877C>A (p.Leu293Ile)
|
|
|
|
NM_001103.4(ACTN2):c.886T>G (p.Trp296Gly)
|
rs2102922356
|
|
|
NM_001103.4(ACTN2):c.8A>G (p.Gln3Arg)
|
rs1665879577
|
|
|
NM_001103.4(ACTN2):c.928G>A (p.Glu310Lys)
|
rs1572132678
|
|
|
NM_001103.4(ACTN2):c.929A>G (p.Glu310Gly)
|
|
|
|
NM_001103.4(ACTN2):c.935C>T (p.Thr312Ile)
|
|
|
|
NM_001103.4(ACTN2):c.937A>G (p.Met313Val)
|
rs754373136
|
|
|
NM_001103.4(ACTN2):c.941A>C (p.Gln314Pro)
|
rs2102922490
|
|
|
NM_001103.4(ACTN2):c.953A>T (p.Lys318Met)
|
rs2102922515
|
|
|
NM_001103.4(ACTN2):c.959T>C (p.Leu320Pro)
|
|
|
|
NM_001103.4(ACTN2):c.964G>T (p.Asp322Tyr)
|
rs1416760371
|
|
|
NM_001103.4(ACTN2):c.971G>C (p.Arg324Pro)
|
rs1240148760
|
|
|
NM_001103.4(ACTN2):c.989A>T (p.His330Leu)
|
|
|
|
NM_001103.4(ACTN2):c.998C>G (p.Pro333Arg)
|
|
|
|
NM_001103.4(ACTN2):c.9G>T (p.Gln3His)
|
rs1553295387
|
|
|
NM_001105206.3(LAMA4):c.1010T>C (p.Ile337Thr)
|
|
|
|
NM_001105206.3(LAMA4):c.1018A>G (p.Asn340Asp)
|
|
|
|
NM_001105206.3(LAMA4):c.1034C>T (p.Thr345Met)
|
|
|
|
NM_001105206.3(LAMA4):c.103G>C (p.Asp35His)
|
|
|
|
NM_001105206.3(LAMA4):c.1055A>G (p.Asp352Gly)
|
rs2114930613
|
|
|
NM_001105206.3(LAMA4):c.1057G>T (p.Val353Leu)
|
|
|
|
NM_001105206.3(LAMA4):c.1069G>A (p.Val357Ile)
|
rs2114930469
|
|
|
NM_001105206.3(LAMA4):c.1077+5G>A
|
|
|
|
NM_001105206.3(LAMA4):c.1077G>A (p.Lys359=)
|
|
|
|
NM_001105206.3(LAMA4):c.1078-13G>A
|
|
|
|
NM_001105206.3(LAMA4):c.1078-6T>C
|
|
|
|
NM_001105206.3(LAMA4):c.1082dup (p.Asn361fs)
|
rs1562698762
|
|
|
NM_001105206.3(LAMA4):c.1126G>A (p.Asp376Asn)
|
|
|
|
NM_001105206.3(LAMA4):c.1127A>G (p.Asp376Gly)
|
rs782061102
|
|
|
NM_001105206.3(LAMA4):c.1135A>T (p.Asn379Tyr)
|
|
|
|
NM_001105206.3(LAMA4):c.1141G>A (p.Ala381Thr)
|
|
|
|
NM_001105206.3(LAMA4):c.1153G>C (p.Val385Leu)
|
|
|
|
NM_001105206.3(LAMA4):c.1158G>T (p.Glu386Asp)
|
|
|
|
NM_001105206.3(LAMA4):c.1163C>A (p.Ala388Asp)
|
rs1355664776
|
|
|
NM_001105206.3(LAMA4):c.1169A>T (p.Asp390Val)
|
|
|
|
NM_001105206.3(LAMA4):c.1177G>A (p.Asp393Asn)
|
|
|
|
NM_001105206.3(LAMA4):c.1177G>T (p.Asp393Tyr)
|
|
|
|
NM_001105206.3(LAMA4):c.1186C>G (p.Gln396Glu)
|
|
|
|
NM_001105206.3(LAMA4):c.1200C>A (p.Asn400Lys)
|
|
|
|
NM_001105206.3(LAMA4):c.1206G>T (p.Met402Ile)
|
rs1781968688
|
|
|
NM_001105206.3(LAMA4):c.122C>A (p.Ala41Glu)
|
|
|
|
NM_001105206.3(LAMA4):c.1243G>A (p.Glu415Lys)
|
rs1471999675
|
|
|
NM_001105206.3(LAMA4):c.1295G>A (p.Ser432Asn)
|
rs1781962457
|
|
|
NM_001105206.3(LAMA4):c.1303C>A (p.Pro435Thr)
|
|
|
|
NM_001105206.3(LAMA4):c.1318C>A (p.Arg440=)
|
rs140911762
|
|
|
NM_001105206.3(LAMA4):c.1318C>G (p.Arg440Gly)
|
rs140911762
|
|
|
NM_001105206.3(LAMA4):c.1354G>A (p.Glu452Lys)
|
|
|
|
NM_001105206.3(LAMA4):c.1354G>T (p.Glu452Ter)
|
|
|
|
NM_001105206.3(LAMA4):c.1357C>G (p.Leu453Val)
|
rs1781957338
|
|
|
NM_001105206.3(LAMA4):c.1375_1376del (p.Ser459fs)
|
|
|
|
NM_001105206.3(LAMA4):c.1432C>A (p.Leu478Met)
|
rs1488086236
|
|
|
NM_001105206.3(LAMA4):c.1437_1442dup (p.Asp480_Tyr481dup)
|
rs782294432
|
|
|
NM_001105206.3(LAMA4):c.1457C>A (p.Ser486Ter)
|
rs782657973
|
|
|
NM_001105206.3(LAMA4):c.1468G>A (p.Glu490Lys)
|
|
|
|
NM_001105206.3(LAMA4):c.1510G>A (p.Asp504Asn)
|
rs1781786297
|
|
|
NM_001105206.3(LAMA4):c.1514T>C (p.Met505Thr)
|
|
|
|
NM_001105206.3(LAMA4):c.1519A>G (p.Arg507Gly)
|
rs2114866841
|
|
|
NM_001105206.3(LAMA4):c.152G>C (p.Ser51Thr)
|
|
|
|
NM_001105206.3(LAMA4):c.1531G>A (p.Ala511Thr)
|
rs2114866762
|
|
|
NM_001105206.3(LAMA4):c.1536_1551+2dup
|
rs2114866555
|
|
|
NM_001105206.3(LAMA4):c.1537C>G (p.Gln513Glu)
|
|
|
|
NM_001105206.3(LAMA4):c.1540C>T (p.Arg514Trp)
|
|
|
|
NM_001105206.3(LAMA4):c.1544A>G (p.Asp515Gly)
|
|
|
|
NM_001105206.3(LAMA4):c.1544A>T (p.Asp515Val)
|
|
|
|
NM_001105206.3(LAMA4):c.1551+7C>T
|
|
|
|
NM_001105206.3(LAMA4):c.1561G>A (p.Glu521Lys)
|
|
|
|
NM_001105206.3(LAMA4):c.1567G>T (p.Val523Leu)
|
rs782711566
|
|
|
NM_001105206.3(LAMA4):c.1585G>A (p.Val529Met)
|
|
|
|
NM_001105206.3(LAMA4):c.1595T>C (p.Met532Thr)
|
rs1583771680
|
|
|
NM_001105206.3(LAMA4):c.1604del (p.Ser535fs)
|
rs2114830424
|
|
|
NM_001105206.3(LAMA4):c.1628C>T (p.Thr543Ile)
|
rs1781313158
|
|
|
NM_001105206.3(LAMA4):c.1642C>T (p.Leu548Phe)
|
|
|
|
NM_001105206.3(LAMA4):c.1655A>G (p.Asp552Gly)
|
rs976056231
|
|
|
NM_001105206.3(LAMA4):c.1669-16A>G
|
|
|
|
NM_001105206.3(LAMA4):c.1675T>C (p.Ser559Pro)
|
|
|
|
NM_001105206.3(LAMA4):c.1693A>T (p.Ile565Leu)
|
rs2114797838
|
|
|
NM_001105206.3(LAMA4):c.1696G>A (p.Asp566Asn)
|
rs1780882314
|
|
|
NM_001105206.3(LAMA4):c.1718A>G (p.Gln573Arg)
|
|
|
|
NM_001105206.3(LAMA4):c.1747A>G (p.Ser583Gly)
|
|
|
|
NM_001105206.3(LAMA4):c.1801G>A (p.Ala601Thr)
|
rs1554337589
|
|
|
NM_001105206.3(LAMA4):c.1817+6_1817+13del
|
rs2114797039
|
|
|
NM_001105206.3(LAMA4):c.1818-3C>T
|
rs1402200171
|
|
|
NM_001105206.3(LAMA4):c.1829G>A (p.Ser610Asn)
|
rs1554336789
|
|
|
NM_001105206.3(LAMA4):c.1852C>T (p.Gln618Ter)
|
|
|
|
NM_001105206.3(LAMA4):c.1873A>G (p.Asn625Asp)
|
|
|
|
NM_001105206.3(LAMA4):c.1883A>G (p.Glu628Gly)
|
rs2114780867
|
|
|
NM_001105206.3(LAMA4):c.1889T>G (p.Ile630Ser)
|
rs782515075
|
|
|
NM_001105206.3(LAMA4):c.188C>A (p.Ala63Glu)
|
rs370868386
|
|
|
NM_001105206.3(LAMA4):c.1904G>A (p.Ser635Asn)
|
rs1780663574
|
|
|
NM_001105206.3(LAMA4):c.1909G>A (p.Ala637Thr)
|
rs1554336733
|
|
|
NM_001105206.3(LAMA4):c.1949G>A (p.Arg650Gln)
|
|
|
|
NM_001105206.3(LAMA4):c.195+3A>G
|
rs2114486777
|
|
|
NM_001105206.3(LAMA4):c.195+4C>T
|
|
|
|
NM_001105206.3(LAMA4):c.195+5A>C
|
rs781999461
|
|
|
NM_001105206.3(LAMA4):c.1959+3G>A
|
rs782020351
|
|
|
NM_001105206.3(LAMA4):c.196-1G>T
|
rs1554358747
|
|
|
NM_001105206.3(LAMA4):c.1979C>T (p.Thr660Ile)
|
|
|
|
NM_001105206.3(LAMA4):c.2015T>C (p.Leu672Pro)
|
|
|
|
NM_001105206.3(LAMA4):c.2017C>T (p.Leu673Phe)
|
|
|
|
NM_001105206.3(LAMA4):c.201C>G (p.Cys67Trp)
|
|
|
|
NM_001105206.3(LAMA4):c.202A>G (p.Asn68Asp)
|
|
|
|
NM_001105206.3(LAMA4):c.2044A>C (p.Lys682Gln)
|
rs1004717885
|
|
|
NM_001105206.3(LAMA4):c.2057G>C (p.Ser686Thr)
|
rs1174262178
|
|
|
NM_001105206.3(LAMA4):c.205G>T (p.Ala69Ser)
|
rs1554358730
|
|
|
NM_001105206.3(LAMA4):c.2061del (p.Ser687fs)
|
|
|
|
NM_001105206.3(LAMA4):c.2081C>G (p.Thr694Ser)
|
rs2114754072
|
|
|
NM_001105206.3(LAMA4):c.2089C>T (p.Arg697Cys)
|
|
|
|
NM_001105206.3(LAMA4):c.20G>C (p.Trp7Ser)
|
|
|
|
NM_001105206.3(LAMA4):c.20G>T (p.Trp7Leu)
|
|
|
|
NM_001105206.3(LAMA4):c.2114A>G (p.Lys705Arg)
|
rs1780338421
|
|
|
NM_001105206.3(LAMA4):c.2118T>G (p.Ser706Arg)
|
|
|
|
NM_001105206.3(LAMA4):c.2134C>T (p.Leu712Phe)
|
rs562879510
|
|
|
NM_001105206.3(LAMA4):c.2174-5del
|
|
|
|
NM_001105206.3(LAMA4):c.2186A>C (p.Gln729Pro)
|
rs1554335038
|
|
|
NM_001105206.3(LAMA4):c.2194G>C (p.Gly732Arg)
|
|
|
|
NM_001105206.3(LAMA4):c.2195G>T (p.Gly732Val)
|
rs781889038
|
|
|
NM_001105206.3(LAMA4):c.2198A>G (p.Gln733Arg)
|
rs1780159275
|
|
|
NM_001105206.3(LAMA4):c.2207T>C (p.Leu736Pro)
|
|
|
|
NM_001105206.3(LAMA4):c.220A>G (p.Thr74Ala)
|
rs1554358719
|
|
|
NM_001105206.3(LAMA4):c.2231C>A (p.Thr744Lys)
|
rs782380775
|
|
|
NM_001105206.3(LAMA4):c.2231C>T (p.Thr744Met)
|
|
|
|
NM_001105206.3(LAMA4):c.2266G>C (p.Ala756Pro)
|
|
|
|
NM_001105206.3(LAMA4):c.2267C>T (p.Ala756Val)
|
rs1780154224
|
|
|
NM_001105206.3(LAMA4):c.22C>T (p.Arg8Cys)
|
|
|
|
NM_001105206.3(LAMA4):c.2339C>T (p.Ser780Phe)
|
|
|
|
NM_001105206.3(LAMA4):c.2342C>A (p.Ala781Asp)
|
rs863223685
|
|
|
NM_001105206.3(LAMA4):c.2355A>G (p.Val785=)
|
|
|
|
NM_001105206.3(LAMA4):c.2358A>C (p.Arg786Ser)
|
|
|
|
NM_001105206.3(LAMA4):c.2368G>A (p.Glu790Lys)
|
|
|
|
NM_001105206.3(LAMA4):c.2399G>A (p.Arg800His)
|
|
|
|
NM_001105206.3(LAMA4):c.2416C>G (p.Arg806Gly)
|
rs373382793
|
|
|
NM_001105206.3(LAMA4):c.2471A>G (p.Gln824Arg)
|
|
|
|
NM_001105206.3(LAMA4):c.2478A>C (p.Arg826Ser)
|
|
|
|
NM_001105206.3(LAMA4):c.247G>C (p.Asp83His)
|
rs531319918
|
|
|
NM_001105206.3(LAMA4):c.2493+4A>C
|
|
|
|
NM_001105206.3(LAMA4):c.2588T>G (p.Leu863Arg)
|
|
|
|
NM_001105206.3(LAMA4):c.2593A>G (p.Met865Val)
|
rs1554333478
|
|
|
NM_001105206.3(LAMA4):c.2595G>T (p.Met865Ile)
|
|
|
|
NM_001105206.3(LAMA4):c.2600C>G (p.Pro867Arg)
|
|
|
|
NM_001105206.3(LAMA4):c.2611C>T (p.Arg871Trp)
|
rs782774293
|
|
|
NM_001105206.3(LAMA4):c.2668-5T>G
|
|
|
|
NM_001105206.3(LAMA4):c.2668-6T>C
|
rs782482637
|
|
|
NM_001105206.3(LAMA4):c.266A>G (p.Asn89Ser)
|
|
|
|
NM_001105206.3(LAMA4):c.2672A>T (p.Lys891Ile)
|
|
|
|
NM_001105206.3(LAMA4):c.2676del (p.Glu893fs)
|
|
|
|
NM_001105206.3(LAMA4):c.2681A>T (p.Tyr894Phe)
|
|
|
|
NM_001105206.3(LAMA4):c.268G>A (p.Glu90Lys)
|
|
|
|
NM_001105206.3(LAMA4):c.2693C>T (p.Ala898Val)
|
|
|
|
NM_001105206.3(LAMA4):c.2734A>T (p.Thr912Ser)
|
rs863223684
|
|
|
NM_001105206.3(LAMA4):c.2739A>C (p.Lys913Asn)
|
rs1779688312
|
|
|
NM_001105206.3(LAMA4):c.2740G>C (p.Asp914His)
|
|
|
|
NM_001105206.3(LAMA4):c.2747A>T (p.Glu916Val)
|
rs1554333212
|
|
|
NM_001105206.3(LAMA4):c.2751T>G (p.Ile917Met)
|
rs1007533169
|
|
|
NM_001105206.3(LAMA4):c.2762C>G (p.Ser921Cys)
|
|
|
|
NM_001105206.3(LAMA4):c.2765A>G (p.Lys922Arg)
|
|
|
|
NM_001105206.3(LAMA4):c.2770G>A (p.Val924Ile)
|
|
|
|
NM_001105206.3(LAMA4):c.2779T>C (p.Trp927Arg)
|
|
|
|
NM_001105206.3(LAMA4):c.2814G>A (p.Arg938=)
|
|
|
|
NM_001105206.3(LAMA4):c.2826T>A (p.His942Gln)
|
|
|
|
NM_001105206.3(LAMA4):c.2832G>T (p.Lys944Asn)
|
rs140978616
|
|
|
NM_001105206.3(LAMA4):c.2853T>A (p.Ser951Arg)
|
rs2114700669
|
|
|
NM_001105206.3(LAMA4):c.2900C>T (p.Ser967Leu)
|
|
|
|
NM_001105206.3(LAMA4):c.2917C>G (p.Leu973Val)
|
|
|
|
NM_001105206.3(LAMA4):c.2924T>C (p.Leu975Pro)
|
|
|
|
NM_001105206.3(LAMA4):c.2939_2940del (p.Thr980fs)
|
rs2114700209
|
|
|
NM_001105206.3(LAMA4):c.2951T>C (p.Val984Ala)
|
|
|
|
NM_001105206.3(LAMA4):c.2976+4A>G
|
|
|
|
NM_001105206.3(LAMA4):c.2976+5G>A
|
|
|
|
NM_001105206.3(LAMA4):c.2977-3T>C
|
rs1391739831
|
|
|
NM_001105206.3(LAMA4):c.2999C>T (p.Pro1000Leu)
|
|
|
|
NM_001105206.3(LAMA4):c.3029C>T (p.Thr1010Ile)
|
rs201431614
|
|
|
NM_001105206.3(LAMA4):c.3040G>A (p.Asp1014Asn)
|
|
|
|
NM_001105206.3(LAMA4):c.3043del (p.Asp1014_Val1015insTer)
|
rs2114694715
|
|
|
NM_001105206.3(LAMA4):c.3050G>A (p.Ser1017Asn)
|
|
|
|
NM_001105206.3(LAMA4):c.3056A>G (p.Tyr1019Cys)
|
|
|
|
NM_001105206.3(LAMA4):c.3073T>C (p.Tyr1025His)
|
rs1554332595
|
|
|
NM_001105206.3(LAMA4):c.307C>G (p.Arg103Gly)
|
rs138176093
|
|
|
NM_001105206.3(LAMA4):c.307C>T (p.Arg103Trp)
|
rs138176093
|
|
|
NM_001105206.3(LAMA4):c.3086C>T (p.Pro1029Leu)
|
rs797025921
|
|
|
NM_001105206.3(LAMA4):c.308G>A (p.Arg103Gln)
|
rs782029414
|
|
|
NM_001105206.3(LAMA4):c.308G>T (p.Arg103Leu)
|
|
|
|
NM_001105206.3(LAMA4):c.3103T>C (p.Cys1035Arg)
|
rs1779575505
|
|
|
NM_001105206.3(LAMA4):c.3107C>A (p.Ala1036Asp)
|
rs2114694165
|
|
|
NM_001105206.3(LAMA4):c.3119T>G (p.Leu1040Arg)
|
rs533014868
|
|
|
NM_001105206.3(LAMA4):c.3122C>A (p.Ala1041Asp)
|
rs863223687
|
|
|
NM_001105206.3(LAMA4):c.3122C>G (p.Ala1041Gly)
|
rs863223687
|
|
|
NM_001105206.3(LAMA4):c.3136C>T (p.Arg1046Trp)
|
|
|
|
NM_001105206.3(LAMA4):c.3139G>T (p.Ala1047Ser)
|
|
|
|
NM_001105206.3(LAMA4):c.3143C>A (p.Ala1048Asp)
|
|
|
|
NM_001105206.3(LAMA4):c.3153C>A (p.Phe1051Leu)
|
rs1060500983
|
|
|
NM_001105206.3(LAMA4):c.3166G>A (p.Gly1056Ser)
|
rs145321940
|
|
|
NM_001105206.3(LAMA4):c.3175G>C (p.Val1059Leu)
|
rs373650093
|
|
|
NM_001105206.3(LAMA4):c.3178G>T (p.Val1060Leu)
|
|
|
|
NM_001105206.3(LAMA4):c.3218C>G (p.Thr1073Ser)
|
rs1477325697
|
|
|
NM_001105206.3(LAMA4):c.3221G>A (p.Arg1074His)
|
|
|
|
NM_001105206.3(LAMA4):c.3272T>C (p.Met1091Thr)
|
|
|
|
NM_001105206.3(LAMA4):c.3274G>A (p.Val1092Ile)
|
|
|
|
NM_001105206.3(LAMA4):c.3283-1G>A
|
rs1779338258
|
|
|
NM_001105206.3(LAMA4):c.3287T>C (p.Met1096Thr)
|
|
|
|
NM_001105206.3(LAMA4):c.328T>G (p.Cys110Gly)
|
rs1583890498
|
|
|
NM_001105206.3(LAMA4):c.3304A>G (p.Met1102Val)
|
rs2114675509
|
|
|
NM_001105206.3(LAMA4):c.3307C>A (p.Arg1103Ser)
|
rs113109272
|
|
|
NM_001105206.3(LAMA4):c.3313G>A (p.Gly1105Ser)
|
rs1554331537
|
|
|
NM_001105206.3(LAMA4):c.3317A>G (p.Tyr1106Cys)
|
|
|
|
NM_001105206.3(LAMA4):c.3325G>A (p.Val1109Met)
|
|
|
|
NM_001105206.3(LAMA4):c.3332A>G (p.Tyr1111Cys)
|
rs782782707
|
|
|
NM_001105206.3(LAMA4):c.3352G>A (p.Gly1118Ser)
|
|
|
|
NM_001105206.3(LAMA4):c.3356C>A (p.Pro1119His)
|
rs1050349
|
|
|
NM_001105206.3(LAMA4):c.3359T>C (p.Val1120Ala)
|
|
|
|
NM_001105206.3(LAMA4):c.3362A>G (p.His1121Arg)
|
rs1554331472
|
|
|
NM_001105206.3(LAMA4):c.3364C>T (p.Leu1122Phe)
|
|
|
|
NM_001105206.3(LAMA4):c.3374C>T (p.Thr1125Met)
|
|
|
|
NM_001105206.3(LAMA4):c.3415-5C>T
|
|
|
|
NM_001105206.3(LAMA4):c.343G>C (p.Asp115His)
|
rs781919095
|
|
|
NM_001105206.3(LAMA4):c.3454G>A (p.Val1152Ile)
|
rs2114666081
|
|
|
NM_001105206.3(LAMA4):c.3468G>T (p.Arg1156Ser)
|
rs1554330896
|
|
|
NM_001105206.3(LAMA4):c.3472G>A (p.Val1158Ile)
|
|
|
|
NM_001105206.3(LAMA4):c.3482T>C (p.Met1161Thr)
|
|
|
|
NM_001105206.3(LAMA4):c.3483G>A (p.Met1161Ile)
|
rs1330472146
|
|
|
NM_001105206.3(LAMA4):c.349T>C (p.Tyr117His)
|
|
|
|
NM_001105206.3(LAMA4):c.350A>G (p.Tyr117Cys)
|
|
|
|
NM_001105206.3(LAMA4):c.3515A>G (p.Asp1172Gly)
|
rs1554330855
|
|
|
NM_001105206.3(LAMA4):c.3517A>G (p.Ile1173Val)
|
|
|
|
NM_001105206.3(LAMA4):c.3541G>A (p.Glu1181Lys)
|
rs958899040
|
|
|
NM_001105206.3(LAMA4):c.3550C>T (p.Gln1184Ter)
|
rs1779217262
|
|
|
NM_001105206.3(LAMA4):c.3557+6G>A
|
|
|
|
NM_001105206.3(LAMA4):c.3569C>A (p.Ala1190Glu)
|
|
|
|
NM_001105206.3(LAMA4):c.356G>A (p.Gly119Glu)
|
rs1452226611
|
|
|
NM_001105206.3(LAMA4):c.3572A>C (p.His1191Pro)
|
|
|
|
NM_001105206.3(LAMA4):c.3577C>T (p.Pro1193Ser)
|
rs782251597
|
|
|
NM_001105206.3(LAMA4):c.3617A>G (p.Gln1206Arg)
|
rs1779158150
|
|
|
NM_001105206.3(LAMA4):c.362C>T (p.Ser121Phe)
|
rs1784099960
|
|
|
NM_001105206.3(LAMA4):c.3638A>G (p.Asn1213Ser)
|
rs1554330550
|
|
|
NM_001105206.3(LAMA4):c.3664G>C (p.Gly1222Arg)
|
rs782523789
|
|
|
NM_001105206.3(LAMA4):c.3686A>C (p.Glu1229Ala)
|
|
|
|
NM_001105206.3(LAMA4):c.3687A>C (p.Glu1229Asp)
|
|
|
|
NM_001105206.3(LAMA4):c.3687del (p.Asp1230fs)
|
rs2114659713
|
|
|
NM_001105206.3(LAMA4):c.368G>A (p.Arg123Lys)
|
|
|
|
NM_001105206.3(LAMA4):c.3694C>T (p.Leu1232Phe)
|
rs2114659675
|
|
|
NM_001105206.3(LAMA4):c.3696+1G>A
|
rs930076073
|
|
|
NM_001105206.3(LAMA4):c.3704G>A (p.Arg1235His)
|
rs559725422
|
|
|
NM_001105206.3(LAMA4):c.371G>A (p.Gly124Glu)
|
rs1562733361
|
|
|
NM_001105206.3(LAMA4):c.3721G>A (p.Gly1241Arg)
|
rs1779121239
|
|
|
NM_001105206.3(LAMA4):c.373G>A (p.Ala125Thr)
|
rs529185662
|
|
|
NM_001105206.3(LAMA4):c.3759C>A (p.Phe1253Leu)
|
|
|
|
NM_001105206.3(LAMA4):c.3763G>A (p.Asp1255Asn)
|
|
|
|
NM_001105206.3(LAMA4):c.3767G>A (p.Gly1256Asp)
|
|
|
|
NM_001105206.3(LAMA4):c.3791G>A (p.Arg1264Gln)
|
|
|
|
NM_001105206.3(LAMA4):c.3819C>A (p.Phe1273Leu)
|
rs138232283
|
|
|
NM_001105206.3(LAMA4):c.3824A>G (p.Tyr1275Cys)
|
|
|
|
NM_001105206.3(LAMA4):c.3829T>C (p.Ser1277Pro)
|
rs2114655811
|
|
|
NM_001105206.3(LAMA4):c.3833G>A (p.Gly1278Glu)
|
|
|
|
NM_001105206.3(LAMA4):c.3833G>T (p.Gly1278Val)
|
|
|
|
NM_001105206.3(LAMA4):c.3835-10T>G
|
|
|
|
NM_001105206.3(LAMA4):c.3842T>A (p.Val1281Glu)
|
rs2114647018
|
|
|
NM_001105206.3(LAMA4):c.3886A>T (p.Lys1296Ter)
|
|
|
|
NM_001105206.3(LAMA4):c.3917A>C (p.Gln1306Pro)
|
rs1554329570
|
|
|
NM_001105206.3(LAMA4):c.3980T>C (p.Ile1327Thr)
|
rs376471900
|
|
|
NM_001105206.3(LAMA4):c.398C>A (p.Pro133His)
|
|
|
|
NM_001105206.3(LAMA4):c.4033_4034del (p.Gln1345fs)
|
rs2114640371
|
|
|
NM_001105206.3(LAMA4):c.4066G>C (p.Gly1356Arg)
|
rs1268977606
|
|
|
NM_001105206.3(LAMA4):c.4067G>C (p.Gly1356Ala)
|
rs1778928279
|
|
|
NM_001105206.3(LAMA4):c.4109G>T (p.Cys1370Phe)
|
|
|
|
NM_001105206.3(LAMA4):c.4169G>A (p.Arg1390Gln)
|
rs200468893
|
|
|
NM_001105206.3(LAMA4):c.4195_4200del (p.Leu1399_Tyr1400del)
|
rs1778865266
|
|
|
NM_001105206.3(LAMA4):c.4216T>A (p.Ser1406Thr)
|
|
|
|
NM_001105206.3(LAMA4):c.422+4A>C
|
rs2115023972
|
|
|
NM_001105206.3(LAMA4):c.422+6T>C
|
rs2115023963
|
|
|
NM_001105206.3(LAMA4):c.4222C>T (p.Pro1408Ser)
|
|
|
|
NM_001105206.3(LAMA4):c.4234C>T (p.Leu1412Phe)
|
rs868967763
|
|
|
NM_001105206.3(LAMA4):c.4243A>G (p.Lys1415Glu)
|
rs1035020919
|
|
|
NM_001105206.3(LAMA4):c.4245A>G (p.Lys1415=)
|
rs2114634690
|
|
|
NM_001105206.3(LAMA4):c.4253A>G (p.Asn1418Ser)
|
|
|
|
NM_001105206.3(LAMA4):c.4254T>A (p.Asn1418Lys)
|
|
|
|
NM_001105206.3(LAMA4):c.4255T>G (p.Leu1419Val)
|
rs782225670
|
|
|
NM_001105206.3(LAMA4):c.4288-3T>C
|
rs782339977
|
|
|
NM_001105206.3(LAMA4):c.4291G>T (p.Gly1431Trp)
|
rs1778403306
|
|
|
NM_001105206.3(LAMA4):c.4321C>T (p.Pro1441Ser)
|
rs782456468
|
|
|
NM_001105206.3(LAMA4):c.4345C>T (p.Arg1449Trp)
|
rs372872387
|
|
|
NM_001105206.3(LAMA4):c.4365_4366del (p.His1456fs)
|
rs1778397204
|
|
|
NM_001105206.3(LAMA4):c.4373A>G (p.His1458Arg)
|
|
|
|
NM_001105206.3(LAMA4):c.4393G>T (p.Ala1465Ser)
|
rs2114600611
|
|
|
NM_001105206.3(LAMA4):c.43C>T (p.Leu15Phe)
|
|
|
|
NM_001105206.3(LAMA4):c.440A>T (p.Tyr147Phe)
|
|
|
|
NM_001105206.3(LAMA4):c.4418G>C (p.Gly1473Ala)
|
|
|
|
NM_001105206.3(LAMA4):c.449dup (p.Asn150fs)
|
rs1249093492
|
|
|
NM_001105206.3(LAMA4):c.4504C>T (p.Arg1502Cys)
|
|
|
|
NM_001105206.3(LAMA4):c.4505G>T (p.Arg1502Leu)
|
rs781976795
|
|
|
NM_001105206.3(LAMA4):c.4505del (p.Arg1502fs)
|
rs2114590834
|
|
|
NM_001105206.3(LAMA4):c.4514A>G (p.His1505Arg)
|
|
|
|
NM_001105206.3(LAMA4):c.4537G>A (p.Asp1513Asn)
|
rs1778281437
|
|
|
NM_001105206.3(LAMA4):c.454G>A (p.Ala152Thr)
|
|
|
|
NM_001105206.3(LAMA4):c.455C>G (p.Ala152Gly)
|
rs138802750
|
|
|
NM_001105206.3(LAMA4):c.4562C>T (p.Thr1521Ile)
|
|
|
|
NM_001105206.3(LAMA4):c.4568T>G (p.Phe1523Cys)
|
|
|
|
NM_001105206.3(LAMA4):c.4576C>T (p.His1526Tyr)
|
rs1778278954
|
|
|
NM_001105206.3(LAMA4):c.4582C>T (p.Arg1528Cys)
|
|
|
|
NM_001105206.3(LAMA4):c.4583G>A (p.Arg1528His)
|
rs782805733
|
|
|
NM_001105206.3(LAMA4):c.4606G>C (p.Gly1536Arg)
|
rs1378834238
|
|
|
NM_001105206.3(LAMA4):c.4626T>G (p.Ile1542Met)
|
|
|
|
NM_001105206.3(LAMA4):c.4634A>C (p.Gln1545Pro)
|
rs2114589787
|
|
|
NM_001105206.3(LAMA4):c.4646A>T (p.Asn1549Ile)
|
rs12110554
|
|
|
NM_001105206.3(LAMA4):c.4651G>T (p.Gly1551Cys)
|
|
|
|
NM_001105206.3(LAMA4):c.4663G>T (p.Asp1555Tyr)
|
rs1424002749
|
|
|
NM_001105206.3(LAMA4):c.4665+6T>A
|
rs1778270384
|
|
|
NM_001105206.3(LAMA4):c.4666-3C>T
|
|
|
|
NM_001105206.3(LAMA4):c.4666G>A (p.Val1556Met)
|
|
|
|
NM_001105206.3(LAMA4):c.4671A>G (p.Ile1557Met)
|
rs2114583933
|
|
|
NM_001105206.3(LAMA4):c.4678C>T (p.Arg1560Ter)
|
rs150069819
|
|
|
NM_001105206.3(LAMA4):c.4683_4684del (p.Arg1562fs)
|
rs1554325284
|
|
|
NM_001105206.3(LAMA4):c.4694G>A (p.Gly1565Asp)
|
|
|
|
NM_001105206.3(LAMA4):c.4705A>T (p.Ile1569Phe)
|
rs782480373
|
|
|
NM_001105206.3(LAMA4):c.4718G>A (p.Arg1573Gln)
|
|
|
|
NM_001105206.3(LAMA4):c.4733G>C (p.Ser1578Thr)
|
|
|
|
NM_001105206.3(LAMA4):c.474C>G (p.Asn158Lys)
|
|
|
|
NM_001105206.3(LAMA4):c.4768G>T (p.Gly1590Cys)
|
rs2114583228
|
|
|
NM_001105206.3(LAMA4):c.4769G>A (p.Gly1590Asp)
|
|
|
|
NM_001105206.3(LAMA4):c.4804G>A (p.Ala1602Thr)
|
rs2114582981
|
|
|
NM_001105206.3(LAMA4):c.4820A>G (p.Gln1607Arg)
|
|
|
|
NM_001105206.3(LAMA4):c.4821+1G>A
|
|
|
|
NM_001105206.3(LAMA4):c.4827C>G (p.Asn1609Lys)
|
|
|
|
NM_001105206.3(LAMA4):c.482A>T (p.Tyr161Phe)
|
rs1168937852
|
|
|
NM_001105206.3(LAMA4):c.4833C>G (p.Ile1611Met)
|
rs1554324564
|
|
|
NM_001105206.3(LAMA4):c.4858A>G (p.Asn1620Asp)
|
rs1778116628
|
|
|
NM_001105206.3(LAMA4):c.4859A>G (p.Asn1620Ser)
|
|
|
|
NM_001105206.3(LAMA4):c.4871A>G (p.Asn1624Ser)
|
rs1554324498
|
|
|
NM_001105206.3(LAMA4):c.488G>T (p.Gly163Val)
|
|
|
|
NM_001105206.3(LAMA4):c.4899_4902del (p.Gln1633fs)
|
rs2114575137
|
|
|
NM_001105206.3(LAMA4):c.4901C>T (p.Thr1634Ile)
|
rs1194804981
|
|
|
NM_001105206.3(LAMA4):c.4904_4905delinsAA (p.Phe1635Ter)
|
rs1778111612
|
|
|
NM_001105206.3(LAMA4):c.490C>T (p.Pro164Ser)
|
rs2115002692
|
|
|
NM_001105206.3(LAMA4):c.4920C>A (p.Cys1640Ter)
|
|
|
|
NM_001105206.3(LAMA4):c.4957A>G (p.Thr1653Ala)
|
|
|
|
NM_001105206.3(LAMA4):c.4958C>G (p.Thr1653Arg)
|
|
|
|
NM_001105206.3(LAMA4):c.4958C>T (p.Thr1653Ile)
|
|
|
|
NM_001105206.3(LAMA4):c.4967G>T (p.Gly1656Val)
|
rs41289900
|
|
|
NM_001105206.3(LAMA4):c.4968A>G (p.Gly1656=)
|
rs1778106910
|
|
|
NM_001105206.3(LAMA4):c.4981+1G>A
|
rs1778105106
|
|
|
NM_001105206.3(LAMA4):c.4982-6C>G
|
rs782572887
|
|
|
NM_001105206.3(LAMA4):c.4988C>T (p.Ser1663Phe)
|
|
|
|
NM_001105206.3(LAMA4):c.4992C>G (p.Phe1664Leu)
|
rs1777994660
|
|
|
NM_001105206.3(LAMA4):c.5002T>G (p.Leu1668Val)
|
|
|
|
NM_001105206.3(LAMA4):c.5015T>C (p.Ile1672Thr)
|
rs2114564440
|
|
|
NM_001105206.3(LAMA4):c.5021T>G (p.Phe1674Cys)
|
rs1209180229
|
|
|
NM_001105206.3(LAMA4):c.5027T>G (p.Val1676Gly)
|
|
|
|
NM_001105206.3(LAMA4):c.5038A>G (p.Ser1680Gly)
|
|
|
|
NM_001105206.3(LAMA4):c.504-20T>C
|
|
|
|
NM_001105206.3(LAMA4):c.5066A>T (p.His1689Leu)
|
|
|
|
NM_001105206.3(LAMA4):c.5075A>G (p.Asn1692Ser)
|
|
|
|
NM_001105206.3(LAMA4):c.5093T>C (p.Val1698Ala)
|
rs782417407
|
|
|
NM_001105206.3(LAMA4):c.5113-2A>G
|
rs1554322946
|
|
|
NM_001105206.3(LAMA4):c.5117T>C (p.Ile1706Thr)
|
|
|
|
NM_001105206.3(LAMA4):c.5126T>C (p.Val1709Ala)
|
rs1777912190
|
|
|
NM_001105206.3(LAMA4):c.5155T>C (p.Ser1719Pro)
|
|
|
|
NM_001105206.3(LAMA4):c.5162C>T (p.Thr1721Ile)
|
|
|
|
NM_001105206.3(LAMA4):c.5172G>T (p.Gln1724His)
|
rs2114556816
|
|
|
NM_001105206.3(LAMA4):c.518A>G (p.Tyr173Cys)
|
rs1783139217
|
|
|
NM_001105206.3(LAMA4):c.5194C>T (p.His1732Tyr)
|
rs2114556643
|
|
|
NM_001105206.3(LAMA4):c.51G>A (p.Trp17Ter)
|
rs782660070
|
|
|
NM_001105206.3(LAMA4):c.5214A>C (p.Arg1738Ser)
|
|
|
|
NM_001105206.3(LAMA4):c.5224G>A (p.Val1742Met)
|
|
|
|
NM_001105206.3(LAMA4):c.5232G>T (p.Gln1744His)
|
|
|
|
NM_001105206.3(LAMA4):c.5237A>G (p.Asp1746Gly)
|
rs1060500982
|
|
|
NM_001105206.3(LAMA4):c.5267G>A (p.Gly1756Glu)
|
rs782244308
|
|
|
NM_001105206.3(LAMA4):c.5269C>T (p.Pro1757Ser)
|
rs782001026
|
|
|
NM_001105206.3(LAMA4):c.5327-3C>T
|
|
|
|
NM_001105206.3(LAMA4):c.5327-8_5347del
|
|
|
|
NM_001105206.3(LAMA4):c.5339_5359del (p.Thr1780_Ser1786del)
|
|
|
|
NM_001105206.3(LAMA4):c.5393T>G (p.Ile1798Ser)
|
rs377204776
|
|
|
NM_001105206.3(LAMA4):c.5405C>A (p.Pro1802Gln)
|
rs886039017
|
|
|
NM_001105206.3(LAMA4):c.5419A>G (p.Lys1807Glu)
|
|
|
|
NM_001105206.3(LAMA4):c.5440G>T (p.Ala1814Ser)
|
rs1048588170
|
|
|
NM_001105206.3(LAMA4):c.5443_5444dup (p.Val1815_Ser1816insTer)
|
|
|
|
NM_001105206.3(LAMA4):c.550T>C (p.Cys184Arg)
|
rs759487426
|
|
|
NM_001105206.3(LAMA4):c.550T>G (p.Cys184Gly)
|
|
|
|
NM_001105206.3(LAMA4):c.569G>A (p.Ser190Asn)
|
rs2114966041
|
|
|
NM_001105206.3(LAMA4):c.575del (p.Asn192fs)
|
rs2114966010
|
|
|
NM_001105206.3(LAMA4):c.57_59dup (p.Ala20dup)
|
rs1284404549
|
|
|
NM_001105206.3(LAMA4):c.595T>A (p.Phe199Ile)
|
rs1783134126
|
|
|
NM_001105206.3(LAMA4):c.5C>T (p.Ala2Val)
|
|
|
|
NM_001105206.3(LAMA4):c.605G>A (p.Cys202Tyr)
|
|
|
|
NM_001105206.3(LAMA4):c.633T>A (p.Asn211Lys)
|
|
|
|
NM_001105206.3(LAMA4):c.63C>G (p.Cys21Trp)
|
rs782234770
|
|
|
NM_001105206.3(LAMA4):c.657C>A (p.Phe219Leu)
|
rs1554349095
|
|
|
NM_001105206.3(LAMA4):c.660G>C (p.Lys220Asn)
|
rs1783130186
|
|
|
NM_001105206.3(LAMA4):c.673G>A (p.Ala225Thr)
|
rs782121531
|
|
|
NM_001105206.3(LAMA4):c.67C>T (p.Arg23Cys)
|
|
|
|
NM_001105206.3(LAMA4):c.694G>T (p.Ala232Ser)
|
|
|
|
NM_001105206.3(LAMA4):c.701T>G (p.Ile234Arg)
|
|
|
|
NM_001105206.3(LAMA4):c.703G>A (p.Ala235Thr)
|
|
|
|
NM_001105206.3(LAMA4):c.710A>T (p.Asn237Ile)
|
rs1554349049
|
|
|
NM_001105206.3(LAMA4):c.713G>C (p.Cys238Ser)
|
|
|
|
NM_001105206.3(LAMA4):c.717A>G (p.Ala239=)
|
|
|
|
NM_001105206.3(LAMA4):c.730G>A (p.Gly244Arg)
|
rs147078770
|
|
|
NM_001105206.3(LAMA4):c.737G>A (p.Gly246Asp)
|
|
|
|
NM_001105206.3(LAMA4):c.742T>C (p.Cys248Arg)
|
|
|
|
NM_001105206.3(LAMA4):c.748A>G (p.Ser250Gly)
|
|
|
|
NM_001105206.3(LAMA4):c.74C>T (p.Ala25Val)
|
rs1787678640
|
|
|
NM_001105206.3(LAMA4):c.758G>C (p.Gly253Ala)
|
|
|
|
NM_001105206.3(LAMA4):c.763T>C (p.Cys255Arg)
|
rs1554347693
|
|
|
NM_001105206.3(LAMA4):c.784C>A (p.Pro262Thr)
|
rs1782865909
|
|
|
NM_001105206.3(LAMA4):c.795C>A (p.Gly265=)
|
rs1484189768
|
|
|
NM_001105206.3(LAMA4):c.815-2A>C
|
|
|
|
NM_001105206.3(LAMA4):c.829G>T (p.Val277Phe)
|
rs146225813
|
|
|
NM_001105206.3(LAMA4):c.82G>A (p.Asp28Asn)
|
|
|
|
NM_001105206.3(LAMA4):c.82GAC[1] (p.Asp29del)
|
rs781840950
|
|
|
NM_001105206.3(LAMA4):c.859G>T (p.Ala287Ser)
|
rs1782763341
|
|
|
NM_001105206.3(LAMA4):c.863C>T (p.Ala288Val)
|
|
|
|
NM_001105206.3(LAMA4):c.868T>C (p.Ser290Pro)
|
rs782433369
|
|
|
NM_001105206.3(LAMA4):c.868T>G (p.Ser290Ala)
|
rs782433369
|
|
|
NM_001105206.3(LAMA4):c.885A>C (p.Lys295Asn)
|
|
|
|
NM_001105206.3(LAMA4):c.889G>C (p.Gly297Arg)
|
|
|
|
NM_001105206.3(LAMA4):c.892G>A (p.Val298Met)
|
rs927160835
|
|
|
NM_001105206.3(LAMA4):c.898_900del (p.Ser300del)
|
rs1782760091
|
|
|
NM_001105206.3(LAMA4):c.922C>T (p.His308Tyr)
|
|
|
|
NM_001105206.3(LAMA4):c.937G>A (p.Glu313Lys)
|
rs2114940385
|
|
|
NM_001105206.3(LAMA4):c.94T>A (p.Phe32Ile)
|
|
|
|
NM_001105206.3(LAMA4):c.962T>C (p.Leu321Pro)
|
rs1554347065
|
|
|
NM_001105206.3(LAMA4):c.966+4C>A
|
rs372706971
|
|
|
NM_001105206.3(LAMA4):c.966+4C>T
|
|
|
|
NM_001105206.3(LAMA4):c.972A>C (p.Lys324Asn)
|
rs70940813
|
|
|
NM_001105206.3(LAMA4):c.982A>G (p.Arg328Gly)
|
|
|
|
NM_001105206.3(LAMA4):c.98C>G (p.Pro33Arg)
|
rs782047461
|
|
|
NM_001105206.3(LAMA4):c.997G>T (p.Ala333Ser)
|
|
|
|
NM_001105206.3(LAMA4):c.998C>T (p.Ala333Val)
|
|
|
|
NM_001114107.5(PDLIM3):c.519-1906_519-1871del
|
|
|
|
NM_001122630.2(CDKN1C):c.*5+20G>C
|
|
|
|
NM_001122630.2(CDKN1C):c.-10-10dup
|
rs1564930907
|
|
|
NM_001122630.2(CDKN1C):c.-10-13C>G
|
rs201368350
|
|
|
NM_001122630.2(CDKN1C):c.-10-14G>A
|
rs2133786761
|
|
|
NM_001122630.2(CDKN1C):c.-10-21G>C
|
|
|
|
NM_001122630.2(CDKN1C):c.-10-22T>C
|
rs1848984628
|
|
|
NM_001122630.2(CDKN1C):c.-10-22del
|
|
|
|
NM_001122630.2(CDKN1C):c.-10-23A>G
|
rs1848984724
|
|
|
NM_001122630.2(CDKN1C):c.-10-4G>A
|
rs2133786706
|
|
|
NM_001122630.2(CDKN1C):c.-2C>T
|
rs1360488872
|
|
|
NM_001122630.2(CDKN1C):c.-3A>G
|
rs1564930879
|
|
|
NM_001122630.2(CDKN1C):c.-5C>A
|
rs1420666038
|
|
|
NM_001122630.2(CDKN1C):c.-5C>T
|
rs1420666038
|
|
|
NM_001122630.2(CDKN1C):c.-8C>G
|
|
|
|
NM_001122630.2(CDKN1C):c.100G>A (p.Glu34Lys)
|
rs1848977184
|
|
|
NM_001122630.2(CDKN1C):c.107A>G (p.Gln36Arg)
|
|
|
|
NM_001122630.2(CDKN1C):c.108G>T (p.Gln36His)
|
|
|
|
NM_001122630.2(CDKN1C):c.10C>G (p.Leu4Val)
|
rs2133786635
|
|
|
NM_001122630.2(CDKN1C):c.110C>A (p.Ala37Asp)
|
|
|
|
NM_001122630.2(CDKN1C):c.110C>T (p.Ala37Val)
|
rs774548414
|
|
|
NM_001122630.2(CDKN1C):c.112C>A (p.Arg38Ser)
|
rs749713233
|
|
|
NM_001122630.2(CDKN1C):c.118G>A (p.Ala40Thr)
|
|
|
|
NM_001122630.2(CDKN1C):c.118G>C (p.Ala40Pro)
|
rs1848975816
|
|
|
NM_001122630.2(CDKN1C):c.11T>C (p.Leu4Pro)
|
rs756961090
|
|
|
NM_001122630.2(CDKN1C):c.129C>A (p.Asn43Lys)
|
|
|
|
NM_001122630.2(CDKN1C):c.131C>A (p.Ala44Asp)
|
rs1848975072
|
|
|
NM_001122630.2(CDKN1C):c.131C>T (p.Ala44Val)
|
rs1848975072
|
|
|
NM_001122630.2(CDKN1C):c.133G>A (p.Glu45Lys)
|
rs1848974871
|
|
|
NM_001122630.2(CDKN1C):c.136G>A (p.Asp46Asn)
|
|
|
|
NM_001122630.2(CDKN1C):c.137A>C (p.Asp46Ala)
|
rs2133786030
|
|
|
NM_001122630.2(CDKN1C):c.137A>G (p.Asp46Gly)
|
rs2133786030
|
|
|
NM_001122630.2(CDKN1C):c.138C>A (p.Asp46Glu)
|
rs777465972
|
|
|
NM_001122630.2(CDKN1C):c.139C>G (p.Gln47Glu)
|
rs1450572665
|
|
|
NM_001122630.2(CDKN1C):c.140A>G (p.Gln47Arg)
|
rs1848974498
|
|
|
NM_001122630.2(CDKN1C):c.142A>G (p.Asn48Asp)
|
rs1402483625
|
|
|
NM_001122630.2(CDKN1C):c.146G>T (p.Arg49Leu)
|
|
|
|
NM_001122630.2(CDKN1C):c.148T>A (p.Trp50Arg)
|
rs1848973963
|
|
|
NM_001122630.2(CDKN1C):c.149G>C (p.Trp50Ser)
|
rs1554938211
|
|
|
NM_001122630.2(CDKN1C):c.152_160del (p.Asp51_Phe54delinsVal)
|
rs1848973414
|
|
|
NM_001122630.2(CDKN1C):c.154T>G (p.Tyr52Asp)
|
|
|
|
NM_001122630.2(CDKN1C):c.157G>A (p.Asp53Asn)
|
rs2133785931
|
|
|
NM_001122630.2(CDKN1C):c.160T>A (p.Phe54Ile)
|
rs1848973334
|
|
|
NM_001122630.2(CDKN1C):c.16G>C (p.Ala6Pro)
|
rs1848981921
|
|
|
NM_001122630.2(CDKN1C):c.170A>C (p.Asp57Ala)
|
|
|
|
NM_001122630.2(CDKN1C):c.172A>G (p.Met58Val)
|
|
|
|
NM_001122630.2(CDKN1C):c.174G>A (p.Met58Ile)
|
rs2133785866
|
|
|
NM_001122630.2(CDKN1C):c.181C>G (p.Arg61Gly)
|
|
|
|
NM_001122630.2(CDKN1C):c.182G>A (p.Arg61Gln)
|
rs1238182415
|
|
|
NM_001122630.2(CDKN1C):c.184G>A (p.Gly62Ser)
|
rs1197451349
|
|
|
NM_001122630.2(CDKN1C):c.185G>A (p.Gly62Asp)
|
rs1060500179
|
|
|
NM_001122630.2(CDKN1C):c.188C>T (p.Pro63Leu)
|
rs1848972207
|
|
|
NM_001122630.2(CDKN1C):c.190G>A (p.Gly64Arg)
|
rs1224283171
|
|
|
NM_001122630.2(CDKN1C):c.194G>T (p.Arg65Leu)
|
rs1312652368
|
|
|
NM_001122630.2(CDKN1C):c.19C>T (p.Arg7Cys)
|
|
|
|
NM_001122630.2(CDKN1C):c.204G>C (p.Trp68Cys)
|
rs2133785693
|
|
|
NM_001122630.2(CDKN1C):c.208G>A (p.Glu70Lys)
|
rs1038466183
|
|
|
NM_001122630.2(CDKN1C):c.208G>C (p.Glu70Gln)
|
rs1038466183
|
|
|
NM_001122630.2(CDKN1C):c.218G>A (p.Ser73Asn)
|
rs1848970951
|
|
|
NM_001122630.2(CDKN1C):c.218G>C (p.Ser73Thr)
|
|
|
|
NM_001122630.2(CDKN1C):c.223T>G (p.Ser75Ala)
|
rs1848970693
|
|
|
NM_001122630.2(CDKN1C):c.224C>G (p.Ser75Trp)
|
rs897964106
|
|
|
NM_001122630.2(CDKN1C):c.224C>T (p.Ser75Leu)
|
|
|
|
NM_001122630.2(CDKN1C):c.230C>T (p.Pro77Leu)
|
rs1590151038
|
|
|
NM_001122630.2(CDKN1C):c.233C>T (p.Ala78Val)
|
rs1848969930
|
|
|
NM_001122630.2(CDKN1C):c.237C>G (p.Phe79Leu)
|
|
|
|
NM_001122630.2(CDKN1C):c.23G>A (p.Gly8Glu)
|
|
|
|
NM_001122630.2(CDKN1C):c.241C>A (p.Arg81Ser)
|
rs1848969615
|
|
|
NM_001122630.2(CDKN1C):c.241C>T (p.Arg81Cys)
|
|
|
|
NM_001122630.2(CDKN1C):c.250G>C (p.Val84Leu)
|
rs762106424
|
|
|
NM_001122630.2(CDKN1C):c.254A>G (p.Gln85Arg)
|
rs1220704341
|
|
|
NM_001122630.2(CDKN1C):c.255G>C (p.Gln85His)
|
rs1848968928
|
|
|
NM_001122630.2(CDKN1C):c.255G>T (p.Gln85His)
|
rs1848968928
|
|
|
NM_001122630.2(CDKN1C):c.256G>A (p.Val86Met)
|
rs1848968869
|
|
|
NM_001122630.2(CDKN1C):c.259_261del (p.Gly87del)
|
rs2133785467
|
|
|
NM_001122630.2(CDKN1C):c.268C>T (p.Arg90Cys)
|
rs1303693319
|
|
|
NM_001122630.2(CDKN1C):c.26C>G (p.Thr9Ser)
|
rs1848981377
|
|
|
NM_001122630.2(CDKN1C):c.274C>G (p.Leu92Val)
|
rs1416112498
|
|
|
NM_001122630.2(CDKN1C):c.278T>A (p.Leu93Gln)
|
|
|
|
NM_001122630.2(CDKN1C):c.281C>T (p.Ala94Val)
|
|
|
|
NM_001122630.2(CDKN1C):c.283C>T (p.Pro95Ser)
|
rs1848966431
|
|
|
NM_001122630.2(CDKN1C):c.283_284delinsGT (p.Pro95Val)
|
rs2133785351
|
|
|
NM_001122630.2(CDKN1C):c.284C>T (p.Pro95Leu)
|
rs1848966308
|
|
|
NM_001122630.2(CDKN1C):c.287G>A (p.Arg96Gln)
|
rs763525000
|
|
|
NM_001122630.2(CDKN1C):c.28T>C (p.Phe10Leu)
|
rs1590151638
|
|
|
NM_001122630.2(CDKN1C):c.292G>A (p.Val98Ile)
|
|
|
|
NM_001122630.2(CDKN1C):c.292G>C (p.Val98Leu)
|
|
|
|
NM_001122630.2(CDKN1C):c.292G>T (p.Val98Phe)
|
rs2133785299
|
|
|
NM_001122630.2(CDKN1C):c.293T>C (p.Val98Ala)
|
rs2133785293
|
|
|
NM_001122630.2(CDKN1C):c.294C>A (p.Val98=)
|
rs932963247
|
|
|
NM_001122630.2(CDKN1C):c.294CGCGGT[1] (p.99AV[2])
|
|
|
|
NM_001122630.2(CDKN1C):c.294CGCGGT[3] (p.Val104_Ser105insAlaVal)
|
|
|
|
NM_001122630.2(CDKN1C):c.295_296delinsTT (p.Ala99Leu)
|
rs1848965543
|
|
|
NM_001122630.2(CDKN1C):c.296C>T (p.Ala99Val)
|
|
|
|
NM_001122630.2(CDKN1C):c.298G>C (p.Val100Leu)
|
rs1848965261
|
|
|
NM_001122630.2(CDKN1C):c.299T>C (p.Val100Ala)
|
|
|
|
NM_001122630.2(CDKN1C):c.29T>G (p.Phe10Cys)
|
rs2133786566
|
|
|
NM_001122630.2(CDKN1C):c.2T>G (p.Met1Arg)
|
rs2133786665
|
|
|
NM_001122630.2(CDKN1C):c.302C>T (p.Ala101Val)
|
|
|
|
NM_001122630.2(CDKN1C):c.305T>C (p.Val102Ala)
|
rs2133785216
|
|
|
NM_001122630.2(CDKN1C):c.308C>T (p.Ala103Val)
|
rs1486019596
|
|
|
NM_001122630.2(CDKN1C):c.313A>C (p.Ser105Arg)
|
rs2133785183
|
|
|
NM_001122630.2(CDKN1C):c.315C>A (p.Ser105Arg)
|
rs1489450203
|
|
|
NM_001122630.2(CDKN1C):c.317C>A (p.Pro106Gln)
|
rs945890937
|
|
|
NM_001122630.2(CDKN1C):c.317C>T (p.Pro106Leu)
|
rs945890937
|
|
|
NM_001122630.2(CDKN1C):c.319C>T (p.Pro107Ser)
|
rs772684721
|
|
|
NM_001122630.2(CDKN1C):c.31C>T (p.Pro11Ser)
|
|
|
|
NM_001122630.2(CDKN1C):c.322C>G (p.Leu108Val)
|
|
|
|
NM_001122630.2(CDKN1C):c.325G>C (p.Glu109Gln)
|
rs1220263188
|
|
|
NM_001122630.2(CDKN1C):c.327G>C (p.Glu109Asp)
|
rs1848962147
|
|
|
NM_001122630.2(CDKN1C):c.328C>T (p.Pro110Ser)
|
|
|
|
NM_001122630.2(CDKN1C):c.329C>G (p.Pro110Arg)
|
rs1590150723
|
|
|
NM_001122630.2(CDKN1C):c.329C>T (p.Pro110Leu)
|
rs1590150723
|
|
|
NM_001122630.2(CDKN1C):c.32C>T (p.Pro11Leu)
|
|
|
|
NM_001122630.2(CDKN1C):c.331G>T (p.Ala111Ser)
|
|
|
|
NM_001122630.2(CDKN1C):c.334G>A (p.Ala112Thr)
|
|
|
|
NM_001122630.2(CDKN1C):c.334G>T (p.Ala112Ser)
|
rs1395949690
|
|
|
NM_001122630.2(CDKN1C):c.336T>A (p.Ala112=)
|
|
|
|
NM_001122630.2(CDKN1C):c.340T>A (p.Ser114Thr)
|
|
|
|
NM_001122630.2(CDKN1C):c.341C>A (p.Ser114Tyr)
|
rs1564930282
|
|
|
NM_001122630.2(CDKN1C):c.343C>T (p.Leu115Phe)
|
rs1302975990
|
|
|
NM_001122630.2(CDKN1C):c.352C>G (p.Leu118Val)
|
|
|
|
NM_001122630.2(CDKN1C):c.356A>T (p.Glu119Val)
|
rs1848959847
|
|
|
NM_001122630.2(CDKN1C):c.358G>A (p.Glu120Lys)
|
rs1848959537
|
|
|
NM_001122630.2(CDKN1C):c.35T>G (p.Val12Gly)
|
|
|
|
NM_001122630.2(CDKN1C):c.360_361delinsCT (p.Glu120_Ala121delinsAspSer)
|
rs1848959184
|
|
|
NM_001122630.2(CDKN1C):c.372G>T (p.Gln124His)
|
rs1848958051
|
|
|
NM_001122630.2(CDKN1C):c.376C>G (p.Pro126Ala)
|
|
|
|
NM_001122630.2(CDKN1C):c.379A>C (p.Ser127Arg)
|
|
|
|
NM_001122630.2(CDKN1C):c.379A>G (p.Ser127Gly)
|
|
|
|
NM_001122630.2(CDKN1C):c.380G>C (p.Ser127Thr)
|
|
|
|
NM_001122630.2(CDKN1C):c.383TCCCGG[1] (p.128VP[1])
|
rs1848956788
|
|
|
NM_001122630.2(CDKN1C):c.383TCCCGG[3] (p.128VP[3])
|
rs1848956788
|
|
|
NM_001122630.2(CDKN1C):c.385C>T (p.Pro129Ser)
|
rs1848957482
|
|
|
NM_001122630.2(CDKN1C):c.386C>T (p.Pro129Leu)
|
|
|
|
NM_001122630.2(CDKN1C):c.388G>C (p.Val130Leu)
|
rs1848957156
|
|
|
NM_001122630.2(CDKN1C):c.388G>T (p.Val130Phe)
|
|
|
|
NM_001122630.2(CDKN1C):c.390CCCGGC[3] (p.131PA[3])
|
rs1201148541
|
|
|
NM_001122630.2(CDKN1C):c.392C>T (p.Pro131Leu)
|
rs2133784827
|
|
|
NM_001122630.2(CDKN1C):c.394_411dup (p.Ala132_Pro137dup)
|
rs2133784738
|
|
|
NM_001122630.2(CDKN1C):c.398C>T (p.Pro133Leu)
|
rs1848956315
|
|
|
NM_001122630.2(CDKN1C):c.401C>A (p.Ala134Glu)
|
|
|
|
NM_001122630.2(CDKN1C):c.404C>G (p.Ser135Cys)
|
|
|
|
NM_001122630.2(CDKN1C):c.407C>A (p.Thr136Asn)
|
rs1848955065
|
|
|
NM_001122630.2(CDKN1C):c.40G>A (p.Val14Met)
|
rs758244300
|
|
|
NM_001122630.2(CDKN1C):c.40G>C (p.Val14Leu)
|
rs758244300
|
|
|
NM_001122630.2(CDKN1C):c.410C>A (p.Pro137Gln)
|
rs754671425
|
|
|
NM_001122630.2(CDKN1C):c.410C>G (p.Pro137Arg)
|
|
|
|
NM_001122630.2(CDKN1C):c.412C>T (p.Pro138Ser)
|
rs1590150454
|
|
|
NM_001122630.2(CDKN1C):c.413C>T (p.Pro138Leu)
|
rs1060500175
|
|
|
NM_001122630.2(CDKN1C):c.415C>A (p.Pro139Thr)
|
|
|
|
NM_001122630.2(CDKN1C):c.416C>A (p.Pro139Gln)
|
|
|
|
NM_001122630.2(CDKN1C):c.418G>A (p.Val140Ile)
|
rs753342439
|
|
|
NM_001122630.2(CDKN1C):c.41T>G (p.Val14Gly)
|
|
|
|
NM_001122630.2(CDKN1C):c.421C>A (p.Pro141Thr)
|
rs1848953645
|
|
|
NM_001122630.2(CDKN1C):c.421C>G (p.Pro141Ala)
|
rs1848953645
|
|
|
NM_001122630.2(CDKN1C):c.421C>T (p.Pro141Ser)
|
rs1848953645
|
|
|
NM_001122630.2(CDKN1C):c.422C>G (p.Pro141Arg)
|
rs1848953520
|
|
|
NM_001122630.2(CDKN1C):c.422C>T (p.Pro141Leu)
|
rs1848953520
|
|
|
NM_001122630.2(CDKN1C):c.422_427del (p.139_140PV[1])
|
rs1060500173
|
|
|
NM_001122630.2(CDKN1C):c.424G>A (p.Val142Ile)
|
|
|
|
NM_001122630.2(CDKN1C):c.425T>C (p.Val142Ala)
|
rs1848953221
|
|
|
NM_001122630.2(CDKN1C):c.425_442dup (p.Val142_Pro147dup)
|
rs1443296311
|
|
|
NM_001122630.2(CDKN1C):c.428T>C (p.Leu143Pro)
|
rs1848952868
|
|
|
NM_001122630.2(CDKN1C):c.430G>C (p.Ala144Pro)
|
rs1848952675
|
|
|
NM_001122630.2(CDKN1C):c.431C>T (p.Ala144Val)
|
rs1848952463
|
|
|
NM_001122630.2(CDKN1C):c.436G>C (p.Ala146Pro)
|
rs1848952005
|
|
|
NM_001122630.2(CDKN1C):c.437C>T (p.Ala146Val)
|
rs1848951869
|
|
|
NM_001122630.2(CDKN1C):c.439C>G (p.Pro147Ala)
|
rs483352981
|
|
|
NM_001122630.2(CDKN1C):c.43C>G (p.Arg15Gly)
|
rs765255367
|
|
|
NM_001122630.2(CDKN1C):c.43C>T (p.Arg15Cys)
|
rs765255367
|
|
|
NM_001122630.2(CDKN1C):c.442G>A (p.Ala148Thr)
|
rs1237188823
|
|
|
NM_001122630.2(CDKN1C):c.442G>C (p.Ala148Pro)
|
rs1237188823
|
|
|
NM_001122630.2(CDKN1C):c.443C>A (p.Ala148Asp)
|
rs372633
|
|
|
NM_001122630.2(CDKN1C):c.443C>G (p.Ala148Gly)
|
|
|
|
NM_001122630.2(CDKN1C):c.445C>T (p.Pro149Ser)
|
rs2133784532
|
|
|
NM_001122630.2(CDKN1C):c.446C>G (p.Pro149Arg)
|
|
|
|
NM_001122630.2(CDKN1C):c.449C>T (p.Ala150Val)
|
|
|
|
NM_001122630.2(CDKN1C):c.449CTCCGG[3] (p.144AP[6])
|
rs1245402442
|
|
|
NM_001122630.2(CDKN1C):c.451C>A (p.Pro151Thr)
|
|
|
|
NM_001122630.2(CDKN1C):c.451C>T (p.Pro151Ser)
|
rs1848950080
|
|
|
NM_001122630.2(CDKN1C):c.452C>T (p.Pro151Leu)
|
rs1848949956
|
|
|
NM_001122630.2(CDKN1C):c.454G>A (p.Ala152Thr)
|
rs2133784469
|
|
|
NM_001122630.2(CDKN1C):c.454G>T (p.Ala152Ser)
|
rs2133784469
|
|
|
NM_001122630.2(CDKN1C):c.454_455insTCGCGG (p.Pro151_Ala152insValAla)
|
|
|
|
NM_001122630.2(CDKN1C):c.457C>A (p.Pro153Thr)
|
rs1323691763
|
|
|
NM_001122630.2(CDKN1C):c.460G>A (p.Val154Ile)
|
rs1060500172
|
|
|
NM_001122630.2(CDKN1C):c.461_532del (p.Val154_Pro177del)
|
rs1564929864
|
|
|
NM_001122630.2(CDKN1C):c.462_463delinsGT (p.Ala155Ser)
|
|
|
|
NM_001122630.2(CDKN1C):c.463G>C (p.Ala155Pro)
|
rs1419349248
|
|
|
NM_001122630.2(CDKN1C):c.464C>T (p.Ala155Val)
|
|
|
|
NM_001122630.2(CDKN1C):c.466G>A (p.Ala156Thr)
|
rs1038604691
|
|
|
NM_001122630.2(CDKN1C):c.466G>C (p.Ala156Pro)
|
|
|
|
NM_001122630.2(CDKN1C):c.467C>T (p.Ala156Val)
|
rs2133784357
|
|
|
NM_001122630.2(CDKN1C):c.469C>G (p.Pro157Ala)
|
rs1848948122
|
|
|
NM_001122630.2(CDKN1C):c.470C>T (p.Pro157Leu)
|
rs2133784340
|
|
|
NM_001122630.2(CDKN1C):c.472G>A (p.Val158Ile)
|
rs1848947864
|
|
|
NM_001122630.2(CDKN1C):c.475G>A (p.Ala159Thr)
|
rs1590150209
|
|
|
NM_001122630.2(CDKN1C):c.478_479insTCGCGGTC (p.Ala160fs)
|
rs1848947450
|
|
|
NM_001122630.2(CDKN1C):c.479C>T (p.Ala160Val)
|
rs1564930022
|
|
|
NM_001122630.2(CDKN1C):c.479_496dup (p.Ala165_Val166insAlaProValAlaValAla)
|
|
|
|
NM_001122630.2(CDKN1C):c.481C>A (p.Pro161Thr)
|
rs1342240264
|
|
|
NM_001122630.2(CDKN1C):c.482C>T (p.Pro161Leu)
|
rs2133784256
|
|
|
NM_001122630.2(CDKN1C):c.485T>C (p.Val162Ala)
|
rs1848947013
|
|
|
NM_001122630.2(CDKN1C):c.491T>C (p.Val164Ala)
|
|
|
|
NM_001122630.2(CDKN1C):c.496G>A (p.Val166Ile)
|
rs1060500174
|
|
|
NM_001122630.2(CDKN1C):c.496G>T (p.Val166Phe)
|
|
|
|
NM_001122630.2(CDKN1C):c.497_502dup (p.Leu167_Ala168insValLeu)
|
|
|
|
NM_001122630.2(CDKN1C):c.499_500delinsGC (p.Leu167Ala)
|
|
|
|
NM_001122630.2(CDKN1C):c.4G>A (p.Glu2Lys)
|
rs2133786658
|
|
|
NM_001122630.2(CDKN1C):c.500T>A (p.Leu167Gln)
|
rs1060500177
|
|
|
NM_001122630.2(CDKN1C):c.503C>A (p.Ala168Asp)
|
|
|
|
NM_001122630.2(CDKN1C):c.503C>T (p.Ala168Val)
|
rs1848945535
|
|
|
NM_001122630.2(CDKN1C):c.505C>T (p.Pro169Ser)
|
|
|
|
NM_001122630.2(CDKN1C):c.506C>A (p.Pro169Gln)
|
rs113374868
|
|
|
NM_001122630.2(CDKN1C):c.506C>G (p.Pro169Arg)
|
rs113374868
|
|
|
NM_001122630.2(CDKN1C):c.506C>T (p.Pro169Leu)
|
rs113374868
|
|
|
NM_001122630.2(CDKN1C):c.508G>A (p.Ala170Thr)
|
rs1848945193
|
|
|
NM_001122630.2(CDKN1C):c.509C>A (p.Ala170Asp)
|
rs1332953428
|
|
|
NM_001122630.2(CDKN1C):c.509C>G (p.Ala170Gly)
|
|
|
|
NM_001122630.2(CDKN1C):c.50G>C (p.Ser17Thr)
|
rs1848980081
|
|
|
NM_001122630.2(CDKN1C):c.510_545dup (p.Pro183_Val184insAlaProAlaProAlaProAlaProAlaProAlaPro)
|
|
|
|
NM_001122630.2(CDKN1C):c.512C>T (p.Pro171Leu)
|
|
|
|
NM_001122630.2(CDKN1C):c.514G>A (p.Ala172Thr)
|
|
|
|
NM_001122630.2(CDKN1C):c.515C>T (p.Ala172Val)
|
rs1163195873
|
|
|
NM_001122630.2(CDKN1C):c.516_545dup (p.Pro183_Val184insAlaProAlaProAlaProAlaProAlaPro)
|
|
|
|
NM_001122630.2(CDKN1C):c.523C>G (p.Pro175Ala)
|
|
|
|
NM_001122630.2(CDKN1C):c.524C>T (p.Pro175Leu)
|
rs1167747239
|
|
|
NM_001122630.2(CDKN1C):c.526G>T (p.Ala176Ser)
|
rs1163798897
|
|
|
NM_001122630.2(CDKN1C):c.529C>A (p.Pro177Thr)
|
rs1474613343
|
|
|
NM_001122630.2(CDKN1C):c.529C>G (p.Pro177Ala)
|
|
|
|
NM_001122630.2(CDKN1C):c.529C>T (p.Pro177Ser)
|
rs1474613343
|
|
|
NM_001122630.2(CDKN1C):c.535C>A (p.Pro179Thr)
|
|
|
|
NM_001122630.2(CDKN1C):c.536C>T (p.Pro179Leu)
|
rs1444091895
|
|
|
NM_001122630.2(CDKN1C):c.538G>T (p.Ala180Ser)
|
rs1060500180
|
|
|
NM_001122630.2(CDKN1C):c.539C>T (p.Ala180Val)
|
rs2133783718
|
|
|
NM_001122630.2(CDKN1C):c.53C>T (p.Ala18Val)
|
rs1319614382
|
|
|
NM_001122630.2(CDKN1C):c.541C>T (p.Pro181Ser)
|
|
|
|
NM_001122630.2(CDKN1C):c.543_566dup (p.Val184_Pro191dup)
|
rs1564929761
|
|
|
NM_001122630.2(CDKN1C):c.544G>T (p.Ala182Ser)
|
rs1848940392
|
|
|
NM_001122630.2(CDKN1C):c.553_554delinsTT (p.Ala185Leu)
|
rs1590149719
|
|
|
NM_001122630.2(CDKN1C):c.555GGCCCC[4] (p.Pro205_Asp206insAlaProAlaPro)
|
|
|
|
NM_001122630.2(CDKN1C):c.556G>T (p.Ala186Ser)
|
rs2133783528
|
|
|
NM_001122630.2(CDKN1C):c.557C>T (p.Ala186Val)
|
rs1590149706
|
|
|
NM_001122630.2(CDKN1C):c.559C>T (p.Pro187Ser)
|
|
|
|
NM_001122630.2(CDKN1C):c.560C>G (p.Pro187Arg)
|
rs2583439
|
|
|
NM_001122630.2(CDKN1C):c.562G>A (p.Ala188Thr)
|
rs1422110653
|
|
|
NM_001122630.2(CDKN1C):c.566C>G (p.Pro189Arg)
|
rs1848936436
|
|
|
NM_001122630.2(CDKN1C):c.568G>A (p.Ala190Thr)
|
rs2133783351
|
|
|
NM_001122630.2(CDKN1C):c.568_569insTCGCGG (p.Pro189_Ala190insValAla)
|
rs1848936176
|
|
|
NM_001122630.2(CDKN1C):c.56G>C (p.Cys19Ser)
|
rs2133786452
|
|
|
NM_001122630.2(CDKN1C):c.572C>T (p.Pro191Leu)
|
|
|
|
NM_001122630.2(CDKN1C):c.578C>A (p.Pro193Gln)
|
|
|
|
NM_001122630.2(CDKN1C):c.578C>G (p.Pro193Arg)
|
rs2583440
|
|
|
NM_001122630.2(CDKN1C):c.578_579insAGTCGC (p.Pro193_Ala194insValAla)
|
|
|
|
NM_001122630.2(CDKN1C):c.581_616dup (p.Pro205_Asp206insAlaProAlaProAlaProAlaProAlaProAlaPro)
|
|
|
|
NM_001122630.2(CDKN1C):c.583C>T (p.Pro195Ser)
|
|
|
|
NM_001122630.2(CDKN1C):c.586G>A (p.Ala196Thr)
|
rs1554937870
|
|
|
NM_001122630.2(CDKN1C):c.589C>G (p.Pro197Ala)
|
|
|
|
NM_001122630.2(CDKN1C):c.58C>A (p.Arg20Ser)
|
rs1467420956
|
|
|
NM_001122630.2(CDKN1C):c.590C>T (p.Pro197Leu)
|
|
|
|
NM_001122630.2(CDKN1C):c.592G>A (p.Ala198Thr)
|
rs750581456
|
|
|
NM_001122630.2(CDKN1C):c.593C>A (p.Ala198Asp)
|
|
|
|
NM_001122630.2(CDKN1C):c.593C>G (p.Ala198Gly)
|
rs1564929680
|
|
|
NM_001122630.2(CDKN1C):c.593C>T (p.Ala198Val)
|
rs1564929680
|
|
|
NM_001122630.2(CDKN1C):c.595C>T (p.Pro199Ser)
|
rs1848932744
|
|
|
NM_001122630.2(CDKN1C):c.597C>A (p.Pro199=)
|
rs767656648
|
|
|
NM_001122630.2(CDKN1C):c.598G>A (p.Ala200Thr)
|
rs1060500178
|
|
|
NM_001122630.2(CDKN1C):c.598G>T (p.Ala200Ser)
|
|
|
|
NM_001122630.2(CDKN1C):c.59G>A (p.Arg20His)
|
rs2133786421
|
|
|
NM_001122630.2(CDKN1C):c.59G>T (p.Arg20Leu)
|
rs2133786421
|
|
|
NM_001122630.2(CDKN1C):c.5A>G (p.Glu2Gly)
|
|
|
|
NM_001122630.2(CDKN1C):c.601C>T (p.Pro201Ser)
|
|
|
|
NM_001122630.2(CDKN1C):c.602C>G (p.Pro201Arg)
|
rs1590149394
|
|
|
NM_001122630.2(CDKN1C):c.602C>T (p.Pro201Leu)
|
rs1590149394
|
|
|
NM_001122630.2(CDKN1C):c.604G>A (p.Ala202Thr)
|
|
|
|
NM_001122630.2(CDKN1C):c.604G>T (p.Ala202Ser)
|
|
|
|
NM_001122630.2(CDKN1C):c.605C>G (p.Ala202Gly)
|
|
|
|
NM_001122630.2(CDKN1C):c.605C>T (p.Ala202Val)
|
|
|
|
NM_001122630.2(CDKN1C):c.607C>A (p.Pro203Thr)
|
rs562237921
|
|
|
NM_001122630.2(CDKN1C):c.607C>G (p.Pro203Ala)
|
|
|
|
NM_001122630.2(CDKN1C):c.607C>T (p.Pro203Ser)
|
|
|
|
NM_001122630.2(CDKN1C):c.608C>A (p.Pro203Gln)
|
rs1564929606
|
|
|
NM_001122630.2(CDKN1C):c.608C>T (p.Pro203Leu)
|
rs1564929606
|
|
|
NM_001122630.2(CDKN1C):c.611C>T (p.Ala204Val)
|
rs1060500176
|
|
|
NM_001122630.2(CDKN1C):c.614C>A (p.Pro205Gln)
|
|
|
|
NM_001122630.2(CDKN1C):c.614C>G (p.Pro205Arg)
|
|
|
|
NM_001122630.2(CDKN1C):c.614C>T (p.Pro205Leu)
|
|
|
|
NM_001122630.2(CDKN1C):c.616G>T (p.Asp206Tyr)
|
|
|
|
NM_001122630.2(CDKN1C):c.617A>G (p.Asp206Gly)
|
|
|
|
NM_001122630.2(CDKN1C):c.618C>G (p.Asp206Glu)
|
|
|
|
NM_001122630.2(CDKN1C):c.620C>T (p.Ala207Val)
|
rs1564929547
|
|
|
NM_001122630.2(CDKN1C):c.622G>A (p.Ala208Thr)
|
rs2133782778
|
|
|
NM_001122630.2(CDKN1C):c.622G>C (p.Ala208Pro)
|
|
|
|
NM_001122630.2(CDKN1C):c.623C>A (p.Ala208Glu)
|
|
|
|
NM_001122630.2(CDKN1C):c.625C>A (p.Pro209Thr)
|
rs1329147434
|
|
|
NM_001122630.2(CDKN1C):c.626C>T (p.Pro209Leu)
|
rs763289302
|
|
|
NM_001122630.2(CDKN1C):c.629A>C (p.Gln210Pro)
|
|
|
|
NM_001122630.2(CDKN1C):c.631G>A (p.Glu211Lys)
|
rs775889163
|
|
|
NM_001122630.2(CDKN1C):c.636C>A (p.Ser212Arg)
|
|
|
|
NM_001122630.2(CDKN1C):c.636C>G (p.Ser212Arg)
|
|
|
|
NM_001122630.2(CDKN1C):c.639_787+239del
|
|
|
|
NM_001122630.2(CDKN1C):c.644A>C (p.Gln215Pro)
|
|
|
|
NM_001122630.2(CDKN1C):c.647G>A (p.Gly216Asp)
|
|
|
|
NM_001122630.2(CDKN1C):c.648C>T (p.Gly216=)
|
rs2133782650
|
|
|
NM_001122630.2(CDKN1C):c.64C>T (p.Leu22Phe)
|
rs2133786375
|
|
|
NM_001122630.2(CDKN1C):c.653A>C (p.Asn218Thr)
|
rs1848926162
|
|
|
NM_001122630.2(CDKN1C):c.654C>G (p.Asn218Lys)
|
rs1232547627
|
|
|
NM_001122630.2(CDKN1C):c.655C>G (p.Gln219Glu)
|
|
|
|
NM_001122630.2(CDKN1C):c.658G>A (p.Gly220Arg)
|
rs1564929482
|
|
|
NM_001122630.2(CDKN1C):c.658G>C (p.Gly220Arg)
|
|
|
|
NM_001122630.2(CDKN1C):c.659G>A (p.Gly220Glu)
|
rs1179846540
|
|
|
NM_001122630.2(CDKN1C):c.662A>C (p.Gln221Pro)
|
rs1848925193
|
|
|
NM_001122630.2(CDKN1C):c.662A>G (p.Gln221Arg)
|
rs1848925193
|
|
|
NM_001122630.2(CDKN1C):c.663G>C (p.Gln221His)
|
|
|
|
NM_001122630.2(CDKN1C):c.665_666delinsAG (p.Arg222Gln)
|
rs1554937778
|
|
|
NM_001122630.2(CDKN1C):c.667G>A (p.Gly223Ser)
|
|
|
|
NM_001122630.2(CDKN1C):c.667G>T (p.Gly223Cys)
|
rs1848924456
|
|
|
NM_001122630.2(CDKN1C):c.668G>A (p.Gly223Asp)
|
rs1203065343
|
|
|
NM_001122630.2(CDKN1C):c.668G>T (p.Gly223Val)
|
|
|
|
NM_001122630.2(CDKN1C):c.669C>T (p.Gly223=)
|
rs546016935
|
|
|
NM_001122630.2(CDKN1C):c.671A>G (p.Gln224Arg)
|
|
|
|
NM_001122630.2(CDKN1C):c.674A>G (p.Glu225Gly)
|
rs2133782474
|
|
|
NM_001122630.2(CDKN1C):c.677C>G (p.Pro226Arg)
|
rs1848923335
|
|
|
NM_001122630.2(CDKN1C):c.677C>T (p.Pro226Leu)
|
rs1848923335
|
|
|
NM_001122630.2(CDKN1C):c.680T>C (p.Leu227Pro)
|
|
|
|
NM_001122630.2(CDKN1C):c.682G>C (p.Ala228Pro)
|
rs781428134
|
|
|
NM_001122630.2(CDKN1C):c.682G>T (p.Ala228Ser)
|
rs781428134
|
|
|
NM_001122630.2(CDKN1C):c.685G>A (p.Asp229Asn)
|
|
|
|
NM_001122630.2(CDKN1C):c.687C>G (p.Asp229Glu)
|
rs2133782422
|
|
|
NM_001122630.2(CDKN1C):c.695A>C (p.His232Pro)
|
|
|
|
NM_001122630.2(CDKN1C):c.696C>A (p.His232Gln)
|
rs2133782395
|
|
|
NM_001122630.2(CDKN1C):c.700G>A (p.Gly234Arg)
|
rs1060500181
|
|
|
NM_001122630.2(CDKN1C):c.703A>G (p.Ile235Val)
|
|
|
|
NM_001122630.2(CDKN1C):c.704T>C (p.Ile235Thr)
|
|
|
|
NM_001122630.2(CDKN1C):c.707C>T (p.Ser236Leu)
|
rs104894200
|
|
|
NM_001122630.2(CDKN1C):c.709G>A (p.Gly237Arg)
|
rs1564929381
|
|
|
NM_001122630.2(CDKN1C):c.70G>A (p.Gly24Arg)
|
|
|
|
NM_001122630.2(CDKN1C):c.70G>T (p.Gly24Trp)
|
|
|
|
NM_001122630.2(CDKN1C):c.715C>T (p.Pro239Ser)
|
rs2133782321
|
|
|
NM_001122630.2(CDKN1C):c.716C>A (p.Pro239His)
|
|
|
|
NM_001122630.2(CDKN1C):c.716C>T (p.Pro239Leu)
|
|
|
|
NM_001122630.2(CDKN1C):c.718G>A (p.Ala240Thr)
|
|
|
|
NM_001122630.2(CDKN1C):c.718G>C (p.Ala240Pro)
|
rs1848920240
|
|
|
NM_001122630.2(CDKN1C):c.719C>T (p.Ala240Val)
|
rs765542916
|
|
|
NM_001122630.2(CDKN1C):c.721G>A (p.Ala241Thr)
|
|
|
|
NM_001122630.2(CDKN1C):c.724G>C (p.Gly242Arg)
|
|
|
|
NM_001122630.2(CDKN1C):c.724G>T (p.Gly242Cys)
|
rs1462025809
|
|
|
NM_001122630.2(CDKN1C):c.725_736del (p.Gly242_Ala245del)
|
rs1341703910
|
|
|
NM_001122630.2(CDKN1C):c.725_736dup (p.Gly242_Ala245dup)
|
rs1341703910
|
|
|
NM_001122630.2(CDKN1C):c.725_742del (p.Gly242_Ser247del)
|
|
|
|
NM_001122630.2(CDKN1C):c.727_747del (p.Thr243_Asn249del)
|
rs1848917841
|
|
|
NM_001122630.2(CDKN1C):c.728C>T (p.Thr243Ile)
|
rs1247486281
|
|
|
NM_001122630.2(CDKN1C):c.730_744dup (p.Ala248_Asn249insAlaAlaAlaSerAla)
|
|
|
|
NM_001122630.2(CDKN1C):c.731C>T (p.Ala244Val)
|
rs1848919037
|
|
|
NM_001122630.2(CDKN1C):c.733G>A (p.Ala245Thr)
|
rs1848918918
|
|
|
NM_001122630.2(CDKN1C):c.734C>T (p.Ala245Val)
|
|
|
|
NM_001122630.2(CDKN1C):c.735_755del (p.Ala246_Ala252del)
|
rs2133782047
|
|
|
NM_001122630.2(CDKN1C):c.73C>T (p.Pro25Ser)
|
|
|
|
NM_001122630.2(CDKN1C):c.740G>C (p.Ser247Thr)
|
|
|
|
NM_001122630.2(CDKN1C):c.742G>A (p.Ala248Thr)
|
rs773881541
|
|
|
NM_001122630.2(CDKN1C):c.745A>C (p.Asn249His)
|
|
|
|
NM_001122630.2(CDKN1C):c.74C>A (p.Pro25Gln)
|
rs1564930749
|
|
|
NM_001122630.2(CDKN1C):c.74C>G (p.Pro25Arg)
|
rs1564930749
|
|
|
NM_001122630.2(CDKN1C):c.74C>T (p.Pro25Leu)
|
|
|
|
NM_001122630.2(CDKN1C):c.754G>A (p.Ala252Thr)
|
|
|
|
NM_001122630.2(CDKN1C):c.758T>G (p.Ile253Ser)
|
|
|
|
NM_001122630.2(CDKN1C):c.759C>G (p.Ile253Met)
|
rs2133782008
|
|
|
NM_001122630.2(CDKN1C):c.761A>G (p.Lys254Arg)
|
rs1848916589
|
|
|
NM_001122630.2(CDKN1C):c.764A>G (p.Lys255Arg)
|
rs2133782000
|
|
|
NM_001122630.2(CDKN1C):c.76G>T (p.Val26Leu)
|
|
|
|
NM_001122630.2(CDKN1C):c.770C>T (p.Ser257Phe)
|
rs2133781980
|
|
|
NM_001122630.2(CDKN1C):c.772G>T (p.Gly258Trp)
|
|
|
|
NM_001122630.2(CDKN1C):c.773G>C (p.Gly258Ala)
|
|
|
|
NM_001122630.2(CDKN1C):c.775C>A (p.Pro259Thr)
|
rs1416211722
|
|
|
NM_001122630.2(CDKN1C):c.775C>G (p.Pro259Ala)
|
|
|
|
NM_001122630.2(CDKN1C):c.775C>T (p.Pro259Ser)
|
rs1416211722
|
|
|
NM_001122630.2(CDKN1C):c.785C>G (p.Ser262Cys)
|
rs1564929254
|
|
|
NM_001122630.2(CDKN1C):c.787+1G>A
|
rs1554937699
|
|
|
NM_001122630.2(CDKN1C):c.787+4A>G
|
|
|
|
NM_001122630.2(CDKN1C):c.787+4_787+27delinsGGCCGTG
|
|
|
|
NM_001122630.2(CDKN1C):c.787+5G>A
|
|
|
|
NM_001122630.2(CDKN1C):c.787+6C>T
|
rs1564929236
|
|
|
NM_001122630.2(CDKN1C):c.788-12_788-5del
|
|
|
|
NM_001122630.2(CDKN1C):c.788-2A>G
|
rs2133780388
|
|
|
NM_001122630.2(CDKN1C):c.788-3C>T
|
rs2133780392
|
|
|
NM_001122630.2(CDKN1C):c.788-4_788-1del
|
|
|
|
NM_001122630.2(CDKN1C):c.788-9C>A
|
rs483352995
|
|
|
NM_001122630.2(CDKN1C):c.796G>A (p.Ala266Thr)
|
rs759474789
|
|
|
NM_001122630.2(CDKN1C):c.796G>C (p.Ala266Pro)
|
rs759474789
|
|
|
NM_001122630.2(CDKN1C):c.796G>T (p.Ala266Ser)
|
rs759474789
|
|
|
NM_001122630.2(CDKN1C):c.799A>C (p.Lys267Gln)
|
rs387907226
|
|
|
NM_001122630.2(CDKN1C):c.79G>A (p.Asp27Asn)
|
rs1848978520
|
|
|
NM_001122630.2(CDKN1C):c.7C>A (p.Arg3Ser)
|
|
|
|
NM_001122630.2(CDKN1C):c.809G>C (p.Arg270Thr)
|
|
|
|
NM_001122630.2(CDKN1C):c.814G>C (p.Ala272Pro)
|
rs1377763757
|
|
|
NM_001122630.2(CDKN1C):c.818C>T (p.Pro273Leu)
|
rs1848881396
|
|
|
NM_001122630.2(CDKN1C):c.824A>G (p.Lys275Arg)
|
rs2133780240
|
|
|
NM_001122630.2(CDKN1C):c.827C>G (p.Ser276Trp)
|
rs928007699
|
|
|
NM_001122630.2(CDKN1C):c.832G>T (p.Gly278Cys)
|
rs1391074477
|
|
|
NM_001122630.2(CDKN1C):c.835G>A (p.Asp279Asn)
|
rs1352481541
|
|
|
NM_001122630.2(CDKN1C):c.836A>G (p.Asp279Gly)
|
|
|
|
NM_001122630.2(CDKN1C):c.838_861del (p.Val280_Pro287del)
|
|
|
|
NM_001122630.2(CDKN1C):c.841C>G (p.Pro281Ala)
|
rs1564928669
|
|
|
NM_001122630.2(CDKN1C):c.842C>G (p.Pro281Arg)
|
|
|
|
NM_001122630.2(CDKN1C):c.845C>T (p.Ala282Val)
|
|
|
|
NM_001122630.2(CDKN1C):c.848C>A (p.Pro283Gln)
|
|
|
|
NM_001122630.2(CDKN1C):c.848C>G (p.Pro283Arg)
|
rs2133780137
|
|
|
NM_001122630.2(CDKN1C):c.848C>T (p.Pro283Leu)
|
|
|
|
NM_001122630.2(CDKN1C):c.852T>G (p.Cys284Trp)
|
|
|
|
NM_001122630.2(CDKN1C):c.853C>G (p.Pro285Ala)
|
rs531059713
|
|
|
NM_001122630.2(CDKN1C):c.854C>G (p.Pro285Arg)
|
|
|
|
NM_001122630.2(CDKN1C):c.85G>A (p.Glu29Lys)
|
|
|
|
NM_001122630.2(CDKN1C):c.860C>G (p.Pro287Arg)
|
rs868414645
|
|
|
NM_001122630.2(CDKN1C):c.862A>G (p.Ser288Gly)
|
|
|
|
NM_001122630.2(CDKN1C):c.868G>T (p.Ala290Ser)
|
rs749702191
|
|
|
NM_001122630.2(CDKN1C):c.869C>T (p.Ala290Val)
|
|
|
|
NM_001122630.2(CDKN1C):c.872C>T (p.Pro291Leu)
|
|
|
|
NM_001122630.2(CDKN1C):c.877G>C (p.Val293Leu)
|
rs1848875591
|
|
|
NM_001122630.2(CDKN1C):c.880G>A (p.Gly294Ser)
|
|
|
|
NM_001122630.2(CDKN1C):c.881G>A (p.Gly294Asp)
|
rs962524119
|
|
|
NM_001122630.2(CDKN1C):c.884C>T (p.Ser295Leu)
|
rs750876855
|
|
|
NM_001122630.2(CDKN1C):c.886G>A (p.Val296Met)
|
rs1848874863
|
|
|
NM_001122630.2(CDKN1C):c.88_89delinsTT (p.Glu30Leu)
|
rs2133786273
|
|
|
NM_001122630.2(CDKN1C):c.892C>G (p.Gln298Glu)
|
|
|
|
NM_001122630.2(CDKN1C):c.893A>G (p.Gln298Arg)
|
|
|
|
NM_001122630.2(CDKN1C):c.893A>T (p.Gln298Leu)
|
|
|
|
NM_001122630.2(CDKN1C):c.894G>C (p.Gln298His)
|
|
|
|
NM_001122630.2(CDKN1C):c.902G>A (p.Arg301His)
|
rs1161543117
|
|
|
NM_001122630.2(CDKN1C):c.908G>A (p.Arg303Lys)
|
rs1015057194
|
|
|
NM_001122630.2(CDKN1C):c.913C>T (p.Arg305Trp)
|
rs2133779874
|
|
|
NM_001122630.2(CDKN1C):c.91C>A (p.Leu31Met)
|
rs2133786240
|
|
|
NM_001122630.2(CDKN1C):c.91C>G (p.Leu31Val)
|
|
|
|
NM_001122630.2(CDKN1C):c.98G>A (p.Arg33His)
|
rs1477382841
|
|
|
NM_001122630.2(CDKN1C):c.98G>T (p.Arg33Leu)
|
rs1477382841
|
|
|
NM_001130965.3(SUN1):c.1010A>C (p.Asp337Ala)
|
|
|
|
NM_001130965.3(SUN1):c.1024A>G (p.Thr342Ala)
|
rs1584895416
|
|
|
NM_001130965.3(SUN1):c.1028C>T (p.Thr343Ile)
|
rs1006896977
|
|
|
NM_001130965.3(SUN1):c.1033C>T (p.Arg345Cys)
|
|
|
|
NM_001130965.3(SUN1):c.1042C>A (p.Gln348Lys)
|
|
|
|
NM_001130965.3(SUN1):c.1106T>C (p.Val369Ala)
|
|
|
|
NM_001130965.3(SUN1):c.1123C>G (p.Gln375Glu)
|
rs1824133471
|
|
|
NM_001130965.3(SUN1):c.1123C>T (p.Gln375Ter)
|
|
|
|
NM_001130965.3(SUN1):c.1127G>A (p.Cys376Tyr)
|
|
|
|
NM_001130965.3(SUN1):c.1136A>G (p.His379Arg)
|
|
|
|
NM_001130965.3(SUN1):c.1151G>A (p.Arg384Gln)
|
|
|
|
NM_001130965.3(SUN1):c.1160C>A (p.Thr387Asn)
|
|
|
|
NM_001130965.3(SUN1):c.1205G>A (p.Gly402Asp)
|
rs1554263579
|
|
|
NM_001130965.3(SUN1):c.1207G>A (p.Gly403Ser)
|
|
|
|
NM_001130965.3(SUN1):c.120C>G (p.His40Gln)
|
|
|
|
NM_001130965.3(SUN1):c.1220_1263+16del
|
rs2128401073
|
|
|
NM_001130965.3(SUN1):c.1228T>G (p.Ser410Ala)
|
rs770565376
|
|
|
NM_001130965.3(SUN1):c.1263+4G>A
|
|
|
|
NM_001130965.3(SUN1):c.1263+4G>C
|
|
|
|
NM_001130965.3(SUN1):c.1265C>G (p.Thr422Ser)
|
|
|
|
NM_001130965.3(SUN1):c.1275G>T (p.Met425Ile)
|
rs1584946287
|
|
|
NM_001130965.3(SUN1):c.1300C>T (p.Arg434Cys)
|
|
|
|
NM_001130965.3(SUN1):c.1358A>G (p.Gln453Arg)
|
|
|
|
NM_001130965.3(SUN1):c.1410G>C (p.Gln470His)
|
|
|
|
NM_001130965.3(SUN1):c.1420A>G (p.Thr474Ala)
|
rs781596220
|
|
|
NM_001130965.3(SUN1):c.1435C>G (p.Gln479Glu)
|
|
|
|
NM_001130965.3(SUN1):c.1465C>G (p.Leu489Val)
|
|
|
|
NM_001130965.3(SUN1):c.1478G>A (p.Arg493Gln)
|
|
|
|
NM_001130965.3(SUN1):c.1492G>A (p.Gly498Ser)
|
|
|
|
NM_001130965.3(SUN1):c.149G>A (p.Arg50Gln)
|
|
|
|
NM_001130965.3(SUN1):c.14G>A (p.Arg5Gln)
|
|
|
|
NM_001130965.3(SUN1):c.1505T>C (p.Val502Ala)
|
rs1829005584
|
|
|
NM_001130965.3(SUN1):c.1517A>G (p.Gln506Arg)
|
|
|
|
NM_001130965.3(SUN1):c.1519G>C (p.Glu507Gln)
|
|
|
|
NM_001130965.3(SUN1):c.1530C>A (p.Asp510Glu)
|
rs369720300
|
|
|
NM_001130965.3(SUN1):c.1549G>A (p.Val517Met)
|
|
|
|
NM_001130965.3(SUN1):c.1561T>G (p.Phe521Val)
|
rs1366892549
|
|
|
NM_001130965.3(SUN1):c.1577A>G (p.Gln526Arg)
|
|
|
|
NM_001130965.3(SUN1):c.157C>T (p.Arg53Cys)
|
|
|
|
NM_001130965.3(SUN1):c.1582G>C (p.Gly528Arg)
|
rs549897796
|
|
|
NM_001130965.3(SUN1):c.1598T>A (p.Leu533Gln)
|
|
|
|
NM_001130965.3(SUN1):c.160C>T (p.Arg54Cys)
|
|
|
|
NM_001130965.3(SUN1):c.1612T>A (p.Ser538Thr)
|
|
|
|
NM_001130965.3(SUN1):c.1612T>C (p.Ser538Pro)
|
|
|
|
NM_001130965.3(SUN1):c.1613C>T (p.Ser538Leu)
|
rs984369757
|
|
|
NM_001130965.3(SUN1):c.161G>A (p.Arg54His)
|
rs772100423
|
|
|
NM_001130965.3(SUN1):c.1655G>A (p.Arg552Gln)
|
|
|
|
NM_001130965.3(SUN1):c.1659C>G (p.Asp553Glu)
|
rs752578715
|
|
|
NM_001130965.3(SUN1):c.1666C>A (p.Leu556Met)
|
rs777583914
|
|
|
NM_001130965.3(SUN1):c.1684G>A (p.Val562Ile)
|
rs749673318
|
|
|
NM_001130965.3(SUN1):c.1691A>G (p.His564Arg)
|
|
|
|
NM_001130965.3(SUN1):c.1693C>A (p.His565Asn)
|
rs1421142069
|
|
|
NM_001130965.3(SUN1):c.169C>T (p.Arg57Cys)
|
|
|
|
NM_001130965.3(SUN1):c.170G>A (p.Arg57His)
|
|
|
|
NM_001130965.3(SUN1):c.1715T>C (p.Leu572Pro)
|
|
|
|
NM_001130965.3(SUN1):c.1732G>A (p.Val578Met)
|
rs201804636
|
|
|
NM_001130965.3(SUN1):c.1750G>A (p.Glu584Lys)
|
|
|
|
NM_001130965.3(SUN1):c.1753G>A (p.Ala585Thr)
|
|
|
|
NM_001130965.3(SUN1):c.1777G>T (p.Ala593Ser)
|
rs952938105
|
|
|
NM_001130965.3(SUN1):c.1778C>T (p.Ala593Val)
|
|
|
|
NM_001130965.3(SUN1):c.185C>T (p.Ala62Val)
|
|
|
|
NM_001130965.3(SUN1):c.1863T>G (p.Gly621=)
|
|
|
|
NM_001130965.3(SUN1):c.1869C>T (p.Gly623=)
|
|
|
|
NM_001130965.3(SUN1):c.1902C>G (p.Tyr634Ter)
|
|
|
|
NM_001130965.3(SUN1):c.1906A>G (p.Thr636Ala)
|
rs201361158
|
|
|
NM_001130965.3(SUN1):c.1913C>T (p.Thr638Met)
|
rs539468692
|
|
|
NM_001130965.3(SUN1):c.1964C>T (p.Pro655Leu)
|
rs1193272206
|
|
|
NM_001130965.3(SUN1):c.19C>T (p.His7Tyr)
|
|
|
|
NM_001130965.3(SUN1):c.200A>T (p.Asp67Val)
|
rs371817690
|
|
|
NM_001130965.3(SUN1):c.2054T>A (p.Met685Lys)
|
rs1839819500
|
|
|
NM_001130965.3(SUN1):c.2057T>C (p.Ile686Thr)
|
|
|
|
NM_001130965.3(SUN1):c.2108C>G (p.Thr703Arg)
|
|
|
|
NM_001130965.3(SUN1):c.2119A>G (p.Ser707Gly)
|
rs373518804
|
|
|
NM_001130965.3(SUN1):c.2158A>G (p.Asn720Asp)
|
|
|
|
NM_001130965.3(SUN1):c.2161G>A (p.Glu721Lys)
|
|
|
|
NM_001130965.3(SUN1):c.2163G>C (p.Glu721Asp)
|
|
|
|
NM_001130965.3(SUN1):c.2229G>C (p.Met743Ile)
|
|
|
|
NM_001130965.3(SUN1):c.2269A>G (p.Ile757Val)
|
|
|
|
NM_001130965.3(SUN1):c.226G>A (p.Gly76Ser)
|
rs114826023
|
|
|
NM_001130965.3(SUN1):c.2271A>G (p.Ile757Met)
|
rs1221855051
|
|
|
NM_001130965.3(SUN1):c.2280_2281delinsAA (p.Leu760_Arg761=)
|
|
|
|
NM_001130965.3(SUN1):c.2320C>G (p.Leu774Val)
|
|
|
|
NM_001130965.3(SUN1):c.2331C>A (p.Phe777Leu)
|
|
|
|
NM_001130965.3(SUN1):c.241G>C (p.Val81Leu)
|
|
|
|
NM_001130965.3(SUN1):c.251A>G (p.Lys84Arg)
|
|
|
|
NM_001130965.3(SUN1):c.254A>T (p.Asn85Ile)
|
|
|
|
NM_001130965.3(SUN1):c.257G>A (p.Arg86Gln)
|
rs375668872
|
|
|
NM_001130965.3(SUN1):c.267-6del
|
rs747866078
|
|
|
NM_001130965.3(SUN1):c.326G>C (p.Arg109Thr)
|
rs778427452
|
|
|
NM_001130965.3(SUN1):c.355G>A (p.Gly119Ser)
|
|
|
|
NM_001130965.3(SUN1):c.385A>G (p.Thr129Ala)
|
rs2128296982
|
|
|
NM_001130965.3(SUN1):c.388C>T (p.Arg130Ter)
|
|
|
|
NM_001130965.3(SUN1):c.389G>T (p.Arg130Leu)
|
rs781471011
|
|
|
NM_001130965.3(SUN1):c.397C>T (p.Pro133Ser)
|
|
|
|
NM_001130965.3(SUN1):c.398C>A (p.Pro133His)
|
rs367835809
|
|
|
NM_001130965.3(SUN1):c.413C>G (p.Ser138Cys)
|
|
|
|
NM_001130965.3(SUN1):c.421C>T (p.Arg141Cys)
|
|
|
|
NM_001130965.3(SUN1):c.422G>A (p.Arg141His)
|
|
|
|
NM_001130965.3(SUN1):c.447C>A (p.Phe149Leu)
|
rs1810622107
|
|
|
NM_001130965.3(SUN1):c.449G>C (p.Trp150Ser)
|
|
|
|
NM_001130965.3(SUN1):c.461A>G (p.Asp154Gly)
|
|
|
|
NM_001130965.3(SUN1):c.470A>G (p.Asp157Gly)
|
rs780997836
|
|
|
NM_001130965.3(SUN1):c.514G>A (p.Val172Met)
|
|
|
|
NM_001130965.3(SUN1):c.520GCC[5] (p.Ala177dup)
|
rs1422408344
|
|
|
NM_001130965.3(SUN1):c.523G>A (p.Ala175Thr)
|
|
|
|
NM_001130965.3(SUN1):c.544G>A (p.Gly182Ser)
|
|
|
|
NM_001130965.3(SUN1):c.563G>A (p.Cys188Tyr)
|
|
|
|
NM_001130965.3(SUN1):c.569T>C (p.Met190Thr)
|
rs932480227
|
|
|
NM_001130965.3(SUN1):c.577G>A (p.Glu193Lys)
|
|
|
|
NM_001130965.3(SUN1):c.604C>A (p.Pro202Thr)
|
rs2128306216
|
|
|
NM_001130965.3(SUN1):c.613C>T (p.Pro205Ser)
|
rs912561766
|
|
|
NM_001130965.3(SUN1):c.622G>T (p.Val208Leu)
|
rs539058781
|
|
|
NM_001130965.3(SUN1):c.624_625insGGGTGCTCACGGCGCACCCCGCGGCCCCCGGGCCCGTG (p.Ser209fs)
|
|
|
|
NM_001130965.3(SUN1):c.652C>A (p.Gln218Lys)
|
|
|
|
NM_001130965.3(SUN1):c.659-2A>G
|
|
|
|
NM_001130965.3(SUN1):c.659-2A>T
|
rs1329817920
|
|
|
NM_001130965.3(SUN1):c.671T>G (p.Leu224Arg)
|
rs2128381511
|
|
|
NM_001130965.3(SUN1):c.676_686del (p.Ile226fs)
|
rs774843286
|
|
|
NM_001130965.3(SUN1):c.679C>G (p.Leu227Val)
|
|
|
|
NM_001130965.3(SUN1):c.687G>T (p.Arg229Ser)
|
|
|
|
NM_001130965.3(SUN1):c.691G>C (p.Gly231Arg)
|
rs753073325
|
|
|
NM_001130965.3(SUN1):c.697G>C (p.Val233Leu)
|
rs377582591
|
|
|
NM_001130965.3(SUN1):c.715A>G (p.Arg239Gly)
|
rs879232845
|
|
|
NM_001130965.3(SUN1):c.71C>T (p.Ala24Val)
|
|
|
|
NM_001130965.3(SUN1):c.722C>A (p.Ala241Glu)
|
|
|
|
NM_001130965.3(SUN1):c.739C>G (p.Leu247Val)
|
rs1368322510
|
|
|
NM_001130965.3(SUN1):c.743C>G (p.Ala248Gly)
|
rs1393440678
|
|
|
NM_001130965.3(SUN1):c.745G>A (p.Val249Met)
|
|
|
|
NM_001130965.3(SUN1):c.748G>T (p.Val250Phe)
|
rs1562696580
|
|
|
NM_001130965.3(SUN1):c.77+1G>A
|
rs1798962063
|
|
|
NM_001130965.3(SUN1):c.77+1del
|
rs1272210110
|
|
|
NM_001130965.3(SUN1):c.78-19A>G
|
|
|
|
NM_001130965.3(SUN1):c.791G>A (p.Gly264Glu)
|
rs2128387566
|
|
|
NM_001130965.3(SUN1):c.7T>C (p.Phe3Leu)
|
|
|
|
NM_001130965.3(SUN1):c.819G>T (p.Leu273Phe)
|
rs2128387711
|
|
|
NM_001130965.3(SUN1):c.835G>C (p.Val279Leu)
|
rs1241533008
|
|
|
NM_001130965.3(SUN1):c.851+5G>A
|
|
|
|
NM_001130965.3(SUN1):c.859C>T (p.Arg287Ter)
|
rs961930316
|
|
|
NM_001130965.3(SUN1):c.860G>A (p.Arg287Gln)
|
|
|
|
NM_001130965.3(SUN1):c.865A>G (p.Ile289Val)
|
rs758027769
|
|
|
NM_001130965.3(SUN1):c.898T>G (p.Phe300Val)
|
|
|
|
NM_001130965.3(SUN1):c.904T>A (p.Leu302Ile)
|
|
|
|
NM_001130965.3(SUN1):c.910+2T>C
|
rs1823355041
|
|
|
NM_001130965.3(SUN1):c.911-3T>C
|
|
|
|
NM_001130965.3(SUN1):c.932A>G (p.Gln311Arg)
|
|
|
|
NM_001130965.3(SUN1):c.945T>A (p.Phe315Leu)
|
rs760512224
|
|
|
NM_001130965.3(SUN1):c.94G>A (p.Asp32Asn)
|
|
|
|
NM_001130965.3(SUN1):c.980A>G (p.His327Arg)
|
|
|
|
NM_001130965.3(SUN1):c.991C>T (p.Arg331Trp)
|
|
|
|
NM_001130965.3(SUN1):c.994G>C (p.Val332Leu)
|
|
|
|
NM_001134363.3(RBM20):c.1001C>T (p.Thr334Ile)
|
|
|
|
NM_001134363.3(RBM20):c.1004C>G (p.Ala335Gly)
|
|
|
|
NM_001134363.3(RBM20):c.1007G>A (p.Gly336Asp)
|
|
|
|
NM_001134363.3(RBM20):c.1012A>G (p.Met338Val)
|
|
|
|
NM_001134363.3(RBM20):c.1021C>G (p.Pro341Ala)
|
|
|
|
NM_001134363.3(RBM20):c.104C>G (p.Pro35Arg)
|
rs2134792790
|
|
|
NM_001134363.3(RBM20):c.1053C>A (p.Asp351Glu)
|
rs192232825
|
|
|
NM_001134363.3(RBM20):c.1072G>A (p.Asp358Asn)
|
|
|
|
NM_001134363.3(RBM20):c.1075_1076del (p.Arg359fs)
|
|
|
|
NM_001134363.3(RBM20):c.1079C>T (p.Thr360Ile)
|
rs1477743309
|
|
|
NM_001134363.3(RBM20):c.1092C>A (p.Phe364Leu)
|
|
|
|
NM_001134363.3(RBM20):c.1097G>A (p.Gly366Asp)
|
rs1201270166
|
|
|
NM_001134363.3(RBM20):c.1097G>T (p.Gly366Val)
|
|
|
|
NM_001134363.3(RBM20):c.1112G>T (p.Ser371Ile)
|
rs2135044522
|
|
|
NM_001134363.3(RBM20):c.1130G>A (p.Gly377Asp)
|
rs1844353297
|
|
|
NM_001134363.3(RBM20):c.1148A>C (p.Lys383Thr)
|
|
|
|
NM_001134363.3(RBM20):c.1156C>A (p.Gln386Lys)
|
|
|
|
NM_001134363.3(RBM20):c.1156C>G (p.Gln386Glu)
|
|
|
|
NM_001134363.3(RBM20):c.1156C>T (p.Gln386Ter)
|
rs794729143
|
|
|
NM_001134363.3(RBM20):c.115C>T (p.Arg39Ter)
|
rs1281593181
|
|
|
NM_001134363.3(RBM20):c.1164G>C (p.Leu388Phe)
|
rs1844354317
|
|
|
NM_001134363.3(RBM20):c.1172T>G (p.Val391Gly)
|
rs567118667
|
|
|
NM_001134363.3(RBM20):c.1174C>G (p.Arg392Gly)
|
|
|
|
NM_001134363.3(RBM20):c.1175G>C (p.Arg392Pro)
|
rs751788298
|
|
|
NM_001134363.3(RBM20):c.1177C>G (p.Pro393Ala)
|
rs563411472
|
|
|
NM_001134363.3(RBM20):c.1189C>T (p.His397Tyr)
|
rs2135044870
|
|
|
NM_001134363.3(RBM20):c.118G>C (p.Gly40Arg)
|
rs1861839858
|
|
|
NM_001134363.3(RBM20):c.1196T>C (p.Leu399Pro)
|
rs916046415
|
|
|
NM_001134363.3(RBM20):c.119G>C (p.Gly40Ala)
|
rs2134792879
|
|
|
NM_001134363.3(RBM20):c.1206dup (p.His403fs)
|
rs1844355459
|
|
|
NM_001134363.3(RBM20):c.120G>T (p.Gly40=)
|
|
|
|
NM_001134363.3(RBM20):c.1210G>T (p.Gly404Cys)
|
rs530925237
|
|
|
NM_001134363.3(RBM20):c.1217C>T (p.Ala406Val)
|
|
|
|
NM_001134363.3(RBM20):c.121A>T (p.Met41Leu)
|
|
|
|
NM_001134363.3(RBM20):c.1222del (p.Leu408fs)
|
rs1564844428
|
|
|
NM_001134363.3(RBM20):c.1222dup (p.Leu408fs)
|
rs1564844428
|
|
|
NM_001134363.3(RBM20):c.1223T>C (p.Leu408Pro)
|
|
|
|
NM_001134363.3(RBM20):c.1225C>T (p.His409Tyr)
|
|
|
|
NM_001134363.3(RBM20):c.1234C>A (p.His412Asn)
|
rs2135045176
|
|
|
NM_001134363.3(RBM20):c.1242T>C (p.Cys414=)
|
rs1844356957
|
|
|
NM_001134363.3(RBM20):c.1245C>G (p.Ser415Arg)
|
rs1481843626
|
|
|
NM_001134363.3(RBM20):c.1250G>A (p.Cys417Tyr)
|
rs1060503412
|
|
|
NM_001134363.3(RBM20):c.125A>G (p.Gln42Arg)
|
rs1861840028
|
|
|
NM_001134363.3(RBM20):c.1271T>C (p.Leu424Ser)
|
|
|
|
NM_001134363.3(RBM20):c.1275+6T>C
|
|
|
|
NM_001134363.3(RBM20):c.1276-3T>C
|
|
|
|
NM_001134363.3(RBM20):c.1277A>T (p.Asp426Val)
|
|
|
|
NM_001134363.3(RBM20):c.127C>T (p.Gln43Ter)
|
|
|
|
NM_001134363.3(RBM20):c.1280G>A (p.Trp427Ter)
|
|
|
|
NM_001134363.3(RBM20):c.1289A>C (p.His430Pro)
|
|
|
|
NM_001134363.3(RBM20):c.1289A>G (p.His430Arg)
|
rs2135048055
|
|
|
NM_001134363.3(RBM20):c.1292_1293del (p.Val431fs)
|
|
|
|
NM_001134363.3(RBM20):c.129GCC[4] (p.Pro48del)
|
rs756342135
|
|
|
NM_001134363.3(RBM20):c.129GCC[6] (p.Pro48dup)
|
rs756342135
|
|
|
NM_001134363.3(RBM20):c.1301A>G (p.Lys434Arg)
|
|
|
|
NM_001134363.3(RBM20):c.130C>A (p.Pro44Thr)
|
|
|
|
NM_001134363.3(RBM20):c.1316A>T (p.Lys439Ile)
|
rs2135048113
|
|
|
NM_001134363.3(RBM20):c.131C>G (p.Pro44Arg)
|
|
|
|
NM_001134363.3(RBM20):c.132_149dup (p.44PPPPPQ[3])
|
rs1204097562
|
|
|
NM_001134363.3(RBM20):c.132_155dup (p.Pro47_Pro54dup)
|
rs1861840424
|
|
|
NM_001134363.3(RBM20):c.1337+5G>A
|
rs1844379788
|
|
|
NM_001134363.3(RBM20):c.1339G>A (p.Ala447Thr)
|
|
|
|
NM_001134363.3(RBM20):c.1340C>T (p.Ala447Val)
|
|
|
|
NM_001134363.3(RBM20):c.1345A>G (p.Ile449Val)
|
rs1564845257
|
|
|
NM_001134363.3(RBM20):c.134C>G (p.Pro45Arg)
|
|
|
|
NM_001134363.3(RBM20):c.1351T>C (p.Cys451Arg)
|
rs2135049976
|
|
|
NM_001134363.3(RBM20):c.1352G>A (p.Cys451Tyr)
|
rs1844393396
|
|
|
NM_001134363.3(RBM20):c.1367C>T (p.Ala456Val)
|
|
|
|
NM_001134363.3(RBM20):c.136C>T (p.Pro46Ser)
|
rs1554886574
|
|
|
NM_001134363.3(RBM20):c.137C>A (p.Pro46Gln)
|
|
|
|
NM_001134363.3(RBM20):c.137_145dup (p.Pro48_Gln49insProProPro)
|
|
|
|
NM_001134363.3(RBM20):c.138_149dup (p.Gln49_Pro52dup)
|
rs878854248
|
|
|
NM_001134363.3(RBM20):c.1400C>T (p.Thr467Ile)
|
|
|
|
NM_001134363.3(RBM20):c.1401del (p.Ala468fs)
|
|
|
|
NM_001134363.3(RBM20):c.1402G>C (p.Ala468Pro)
|
|
|
|
NM_001134363.3(RBM20):c.1409A>G (p.Tyr470Cys)
|
|
|
|
NM_001134363.3(RBM20):c.140_145dup (p.Pro48_Gln49insProPro)
|
|
|
|
NM_001134363.3(RBM20):c.141_161del (p.Pro48_Pro54del)
|
rs1286990478
|
|
|
NM_001134363.3(RBM20):c.141_161dup (p.Pro48_Pro54dup)
|
rs1286990478
|
|
|
NM_001134363.3(RBM20):c.1429+6C>G
|
rs2135050268
|
|
|
NM_001134363.3(RBM20):c.1444C>T (p.Leu482Phe)
|
rs752506719
|
|
|
NM_001134363.3(RBM20):c.1448G>A (p.Gly483Glu)
|
rs2135050974
|
|
|
NM_001134363.3(RBM20):c.1472C>T (p.Ala491Val)
|
rs1844400398
|
|
|
NM_001134363.3(RBM20):c.147_164del (p.44PPPPPQ[1])
|
rs1273274801
|
|
|
NM_001134363.3(RBM20):c.1490C>A (p.Ser497Ter)
|
|
|
|
NM_001134363.3(RBM20):c.1502T>G (p.Phe501Cys)
|
|
|
|
NM_001134363.3(RBM20):c.1504C>G (p.Pro502Ala)
|
|
|
|
NM_001134363.3(RBM20):c.1511C>T (p.Ala504Val)
|
rs878854249
|
|
|
NM_001134363.3(RBM20):c.151C>T (p.Pro51Ser)
|
rs1861841530
|
|
|
NM_001134363.3(RBM20):c.1525A>G (p.Thr509Ala)
|
rs1844401481
|
|
|
NM_001134363.3(RBM20):c.1526C>G (p.Thr509Ser)
|
|
|
|
NM_001134363.3(RBM20):c.1528-1G>C
|
rs534513476
|
|
|
NM_001134363.3(RBM20):c.152CGCCCC[3] (p.Pro53_Pro54dup)
|
rs1554886580
|
|
|
NM_001134363.3(RBM20):c.1531G>T (p.Ala511Ser)
|
|
|
|
NM_001134363.3(RBM20):c.1543G>A (p.Gly515Arg)
|
rs1235212712
|
|
|
NM_001134363.3(RBM20):c.1558G>A (p.Val520Met)
|
rs1844567016
|
|
|
NM_001134363.3(RBM20):c.155C>T (p.Pro52Leu)
|
|
|
|
NM_001134363.3(RBM20):c.1571A>G (p.Asn524Ser)
|
|
|
|
NM_001134363.3(RBM20):c.1590C>A (p.Cys530Ter)
|
rs2135073795
|
|
|
NM_001134363.3(RBM20):c.1596G>T (p.Glu532Asp)
|
|
|
|
NM_001134363.3(RBM20):c.1598A>G (p.Asn533Ser)
|
rs1309738508
|
|
|
NM_001134363.3(RBM20):c.1603G>C (p.Val535Leu)
|
|
|
|
NM_001134363.3(RBM20):c.1610A>G (p.Asn537Ser)
|
|
|
|
NM_001134363.3(RBM20):c.1632G>T (p.Lys544Asn)
|
|
|
|
NM_001134363.3(RBM20):c.1643A>G (p.Tyr548Cys)
|
rs1844568332
|
|
|
NM_001134363.3(RBM20):c.1653G>A (p.Met551Ile)
|
rs1844568460
|
|
|
NM_001134363.3(RBM20):c.1669-3T>G
|
|
|
|
NM_001134363.3(RBM20):c.1669G>A (p.Ala557Thr)
|
|
|
|
NM_001134363.3(RBM20):c.1670C>A (p.Ala557Asp)
|
rs1554901109
|
|
|
NM_001134363.3(RBM20):c.1682T>C (p.Met561Thr)
|
rs999297099
|
|
|
NM_001134363.3(RBM20):c.1691C>T (p.Thr564Ile)
|
rs1844598194
|
|
|
NM_001134363.3(RBM20):c.1699G>A (p.Ala567Thr)
|
rs1844598396
|
|
|
NM_001134363.3(RBM20):c.170G>A (p.Gly57Asp)
|
|
|
|
NM_001134363.3(RBM20):c.1711G>T (p.Val571Phe)
|
|
|
|
NM_001134363.3(RBM20):c.1723C>T (p.Gln575Ter)
|
|
|
|
NM_001134363.3(RBM20):c.1728A>C (p.Glu576Asp)
|
|
|
|
NM_001134363.3(RBM20):c.1733C>G (p.Ser578Cys)
|
rs1844599391
|
|
|
NM_001134363.3(RBM20):c.1735G>T (p.Ala579Ser)
|
|
|
|
NM_001134363.3(RBM20):c.1745A>G (p.Asn582Ser)
|
rs890837429
|
|
|
NM_001134363.3(RBM20):c.1745A>T (p.Asn582Ile)
|
|
|
|
NM_001134363.3(RBM20):c.1769T>A (p.Met590Lys)
|
rs794729147
|
|
|
NM_001134363.3(RBM20):c.1769T>G (p.Met590Arg)
|
rs794729147
|
|
|
NM_001134363.3(RBM20):c.1775A>G (p.Lys592Arg)
|
rs1844600546
|
|
|
NM_001134363.3(RBM20):c.1787A>C (p.Glu596Ala)
|
rs1554901133
|
|
|
NM_001134363.3(RBM20):c.1792C>T (p.Gln598Ter)
|
|
|
|
NM_001134363.3(RBM20):c.1800+1G>A
|
rs1060503414
|
|
|
NM_001134363.3(RBM20):c.1800+4A>G
|
rs1564850178
|
|
|
NM_001134363.3(RBM20):c.1805C>A (p.Pro602His)
|
|
|
|
NM_001134363.3(RBM20):c.1813G>A (p.Ala605Thr)
|
rs1342793239
|
|
|
NM_001134363.3(RBM20):c.181A>G (p.Ile61Val)
|
|
|
|
NM_001134363.3(RBM20):c.1823C>T (p.Ala608Val)
|
rs1844749476
|
|
|
NM_001134363.3(RBM20):c.1825A>G (p.Ile609Val)
|
|
|
|
NM_001134363.3(RBM20):c.1834G>A (p.Asp612Asn)
|
|
|
|
NM_001134363.3(RBM20):c.184A>G (p.Ile62Val)
|
|
|
|
NM_001134363.3(RBM20):c.1850G>A (p.Arg617Lys)
|
rs1844749902
|
|
|
NM_001134363.3(RBM20):c.1851G>C (p.Arg617Ser)
|
rs1844749960
|
|
|
NM_001134363.3(RBM20):c.1855A>T (p.Arg619Trp)
|
|
|
|
NM_001134363.3(RBM20):c.1857G>T (p.Arg619Ser)
|
rs1844750147
|
|
|
NM_001134363.3(RBM20):c.1879A>G (p.Arg627Gly)
|
|
|
|
NM_001134363.3(RBM20):c.1883A>G (p.Tyr628Cys)
|
rs2135103547
|
|
|
NM_001134363.3(RBM20):c.1886G>T (p.Gly629Val)
|
rs1844777305
|
|
|
NM_001134363.3(RBM20):c.188A>G (p.Gln63Arg)
|
rs1564804235
|
|
|
NM_001134363.3(RBM20):c.1900C>G (p.Arg634Gly)
|
|
|
|
NM_001134363.3(RBM20):c.1903T>C (p.Ser635Pro)
|
rs1844777857
|
|
|
NM_001134363.3(RBM20):c.1904C>A (p.Ser635Tyr)
|
rs1114167331
|
|
|
NM_001134363.3(RBM20):c.1904C>T (p.Ser635Phe)
|
|
|
|
NM_001134363.3(RBM20):c.1909_1911del (p.Ser637del)
|
rs794729163
|
|
|
NM_001134363.3(RBM20):c.1911T>G (p.Ser637Arg)
|
|
|
|
NM_001134363.3(RBM20):c.1913C>A (p.Pro638Gln)
|
rs267607003
|
|
|
NM_001134363.3(RBM20):c.1915G>A (p.Val639Met)
|
rs1844778442
|
|
|
NM_001134363.3(RBM20):c.191del (p.Asn64fs)
|
|
|
|
NM_001134363.3(RBM20):c.192-3C>T
|
|
|
|
NM_001134363.3(RBM20):c.1940C>T (p.Ser647Phe)
|
|
|
|
NM_001134363.3(RBM20):c.1944C>A (p.His648Gln)
|
rs1844779098
|
|
|
NM_001134363.3(RBM20):c.1946C>T (p.Thr649Ile)
|
|
|
|
NM_001134363.3(RBM20):c.1948C>T (p.Pro650Ser)
|
|
|
|
NM_001134363.3(RBM20):c.194C>G (p.Ala65Gly)
|
rs1255136385
|
|
|
NM_001134363.3(RBM20):c.194C>T (p.Ala65Val)
|
|
|
|
NM_001134363.3(RBM20):c.1969_1970delinsAG (p.Ser657=)
|
rs1554842673
|
|
|
NM_001134363.3(RBM20):c.1984C>G (p.Pro662Ala)
|
|
|
|
NM_001134363.3(RBM20):c.1990_2000del (p.Gly663_Pro664insTer)
|
rs2135103989
|
|
|
NM_001134363.3(RBM20):c.1994C>T (p.Ser665Phe)
|
|
|
|
NM_001134363.3(RBM20):c.1999G>A (p.Ala667Thr)
|
|
|
|
NM_001134363.3(RBM20):c.2009G>A (p.Gly670Asp)
|
rs2135104151
|
|
|
NM_001134363.3(RBM20):c.2019G>T (p.Arg673=)
|
rs1844781108
|
|
|
NM_001134363.3(RBM20):c.2024C>T (p.Ser675Phe)
|
rs1844781292
|
|
|
NM_001134363.3(RBM20):c.2041T>C (p.Tyr681His)
|
rs1257262328
|
|
|
NM_001134363.3(RBM20):c.2042del (p.Tyr681fs)
|
|
|
|
NM_001134363.3(RBM20):c.2043T>A (p.Tyr681Ter)
|
rs376380567
|
|
|
NM_001134363.3(RBM20):c.2045C>G (p.Ala682Gly)
|
|
|
|
NM_001134363.3(RBM20):c.2047A>G (p.Arg683Gly)
|
|
|
|
NM_001134363.3(RBM20):c.2060del (p.Glu687fs)
|
|
|
|
NM_001134363.3(RBM20):c.2065G>A (p.Asp689Asn)
|
rs1590695932
|
|
|
NM_001134363.3(RBM20):c.2067C>A (p.Asp689Glu)
|
|
|
|
NM_001134363.3(RBM20):c.2071G>T (p.Ala691Ser)
|
rs1844782261
|
|
|
NM_001134363.3(RBM20):c.2084A>G (p.Asp695Gly)
|
rs1036736581
|
|
|
NM_001134363.3(RBM20):c.2086A>G (p.Asn696Asp)
|
rs1338107542
|
|
|
NM_001134363.3(RBM20):c.2087A>G (p.Asn696Ser)
|
rs1844782473
|
|
|
NM_001134363.3(RBM20):c.2106C>G (p.Asp702Glu)
|
|
|
|
NM_001134363.3(RBM20):c.2109G>C (p.Arg703Ser)
|
rs988797559
|
|
|
NM_001134363.3(RBM20):c.2113G>A (p.Asp705Asn)
|
rs995493100
|
|
|
NM_001134363.3(RBM20):c.2119T>A (p.Trp707Arg)
|
rs1554842725
|
|
|
NM_001134363.3(RBM20):c.2119T>C (p.Trp707Arg)
|
|
|
|
NM_001134363.3(RBM20):c.2126A>G (p.His709Arg)
|
|
|
|
NM_001134363.3(RBM20):c.2131C>G (p.Arg711Gly)
|
rs750763255
|
|
|
NM_001134363.3(RBM20):c.2132G>A (p.Arg711His)
|
rs1448017649
|
|
|
NM_001134363.3(RBM20):c.2132G>C (p.Arg711Pro)
|
rs1448017649
|
|
|
NM_001134363.3(RBM20):c.2140C>T (p.His714Tyr)
|
rs1844784087
|
|
|
NM_001134363.3(RBM20):c.2142C>A (p.His714Gln)
|
|
|
|
NM_001134363.3(RBM20):c.215A>T (p.Asn72Ile)
|
rs1372553161
|
|
|
NM_001134363.3(RBM20):c.2161G>A (p.Ala721Thr)
|
rs876657976
|
|
|
NM_001134363.3(RBM20):c.2176C>G (p.Arg726Gly)
|
|
|
|
NM_001134363.3(RBM20):c.2177G>A (p.Arg726Gln)
|
rs756116415
|
|
|
NM_001134363.3(RBM20):c.2182G>A (p.Glu728Lys)
|
|
|
|
NM_001134363.3(RBM20):c.2182G>T (p.Glu728Ter)
|
rs1844785287
|
|
|
NM_001134363.3(RBM20):c.2183_2185del (p.Glu728del)
|
rs876657977
|
|
|
NM_001134363.3(RBM20):c.2188G>A (p.Gly730Arg)
|
|
|
|
NM_001134363.3(RBM20):c.2188G>C (p.Gly730Arg)
|
rs1844785438
|
|
|
NM_001134363.3(RBM20):c.2201G>C (p.Arg734Pro)
|
rs372923744
|
|
|
NM_001134363.3(RBM20):c.2207A>C (p.Lys736Thr)
|
|
|
|
NM_001134363.3(RBM20):c.2213C>G (p.Pro738Arg)
|
rs397516601
|
|
|
NM_001134363.3(RBM20):c.2219C>T (p.Ser740Phe)
|
rs730880183
|
|
|
NM_001134363.3(RBM20):c.2242T>C (p.Ser748Pro)
|
rs2135105234
|
|
|
NM_001134363.3(RBM20):c.2280_2282dup (p.Arg761dup)
|
rs1844787460
|
|
|
NM_001134363.3(RBM20):c.2284A>G (p.Lys762Glu)
|
|
|
|
NM_001134363.3(RBM20):c.2291C>A (p.Pro764His)
|
rs1036485472
|
|
|
NM_001134363.3(RBM20):c.2294A>C (p.Lys765Thr)
|
rs1395161859
|
|
|
NM_001134363.3(RBM20):c.2303C>A (p.Ser768Ter)
|
rs1417635
|
|
|
NM_001134363.3(RBM20):c.2306A>G (p.Asp769Gly)
|
|
|
|
NM_001134363.3(RBM20):c.2309A>G (p.Lys770Arg)
|
rs1244728107
|
|
|
NM_001134363.3(RBM20):c.2312A>G (p.Tyr771Cys)
|
rs2135105617
|
|
|
NM_001134363.3(RBM20):c.2315T>C (p.Leu772Pro)
|
|
|
|
NM_001134363.3(RBM20):c.2320CAG[2] (p.Gln776del)
|
|
|
|
NM_001134363.3(RBM20):c.2331T>G (p.Asp777Glu)
|
rs1428730678
|
|
|
NM_001134363.3(RBM20):c.2336C>T (p.Pro779Leu)
|
|
|
|
NM_001134363.3(RBM20):c.2338G>T (p.Gly780Trp)
|
rs750988872
|
|
|
NM_001134363.3(RBM20):c.2343del (p.Arg781fs)
|
rs1443137430
|
|
|
NM_001134363.3(RBM20):c.2350_2351delinsGT (p.Arg784Val)
|
rs1844789808
|
|
|
NM_001134363.3(RBM20):c.2358C>A (p.Asp786Glu)
|
rs1045844360
|
|
|
NM_001134363.3(RBM20):c.2360A>G (p.Glu787Gly)
|
rs1844790155
|
|
|
NM_001134363.3(RBM20):c.2361G>C (p.Glu787Asp)
|
|
|
|
NM_001134363.3(RBM20):c.2371C>G (p.Arg791Gly)
|
rs529403382
|
|
|
NM_001134363.3(RBM20):c.2372G>A (p.Arg791Gln)
|
|
|
|
NM_001134363.3(RBM20):c.2374G>A (p.Glu792Lys)
|
rs2135105925
|
|
|
NM_001134363.3(RBM20):c.2374dup (p.Glu792fs)
|
|
|
|
NM_001134363.3(RBM20):c.2378G>A (p.Ser793Asn)
|
|
|
|
NM_001134363.3(RBM20):c.237_298del (p.Asn80fs)
|
rs1554898759
|
|
|
NM_001134363.3(RBM20):c.2383C>A (p.His795Asn)
|
rs2135105962
|
|
|
NM_001134363.3(RBM20):c.2388_2393dup (p.795_796HP[3])
|
rs1564661327
|
|
|
NM_001134363.3(RBM20):c.2396A>G (p.Asp799Gly)
|
|
|
|
NM_001134363.3(RBM20):c.2398G>A (p.Asp800Asn)
|
|
|
|
NM_001134363.3(RBM20):c.2414A>T (p.Asp805Val)
|
rs2135106050
|
|
|
NM_001134363.3(RBM20):c.2422G>T (p.Gly808Trp)
|
rs1844791428
|
|
|
NM_001134363.3(RBM20):c.2434A>C (p.Thr812Pro)
|
rs1564661367
|
|
|
NM_001134363.3(RBM20):c.2434A>T (p.Thr812Ser)
|
rs1564661367
|
|
|
NM_001134363.3(RBM20):c.2435C>T (p.Thr812Ile)
|
|
|
|
NM_001134363.3(RBM20):c.2436_2442del (p.Arg813fs)
|
rs1554842805
|
|
|
NM_001134363.3(RBM20):c.2437A>G (p.Arg813Gly)
|
rs2135106132
|
|
|
NM_001134363.3(RBM20):c.2443_2454del (p.Pro815_Ala818del)
|
rs2135106138
|
|
|
NM_001134363.3(RBM20):c.2453C>A (p.Ala818Asp)
|
|
|
|
NM_001134363.3(RBM20):c.2477A>G (p.Asn826Ser)
|
rs773581304
|
|
|
NM_001134363.3(RBM20):c.2500G>C (p.Asp834His)
|
|
|
|
NM_001134363.3(RBM20):c.2501A>G (p.Asp834Gly)
|
|
|
|
NM_001134363.3(RBM20):c.2504AAG[1] (p.Glu836del)
|
rs1554842819
|
|
|
NM_001134363.3(RBM20):c.2518del (p.Asp840fs)
|
rs2135106385
|
|
|
NM_001134363.3(RBM20):c.2521del (p.Arg841fs)
|
rs1590696621
|
|
|
NM_001134363.3(RBM20):c.2528A>G (p.Glu843Gly)
|
rs1844794265
|
|
|
NM_001134363.3(RBM20):c.2539G>A (p.Ala847Thr)
|
rs1844794627
|
|
|
NM_001134363.3(RBM20):c.2540C>T (p.Ala847Val)
|
rs1844794673
|
|
|
NM_001134363.3(RBM20):c.2545A>C (p.Asn849His)
|
|
|
|
NM_001134363.3(RBM20):c.2550+1G>A
|
rs1844794840
|
|
|
NM_001134363.3(RBM20):c.2550+4A>G
|
|
|
|
NM_001134363.3(RBM20):c.2551-3A>G
|
|
|
|
NM_001134363.3(RBM20):c.2564A>T (p.Glu855Val)
|
|
|
|
NM_001134363.3(RBM20):c.2566C>G (p.Gln856Glu)
|
|
|
|
NM_001134363.3(RBM20):c.2566C>T (p.Gln856Ter)
|
|
|
|
NM_001134363.3(RBM20):c.2575A>G (p.Met859Val)
|
rs1844888587
|
|
|
NM_001134363.3(RBM20):c.2577G>A (p.Met859Ile)
|
|
|
|
NM_001134363.3(RBM20):c.257C>T (p.Pro86Leu)
|
|
|
|
NM_001134363.3(RBM20):c.2587C>T (p.Pro863Ser)
|
rs367791037
|
|
|
NM_001134363.3(RBM20):c.2588C>G (p.Pro863Arg)
|
rs794729153
|
|
|
NM_001134363.3(RBM20):c.258T>G (p.Pro86=)
|
|
|
|
NM_001134363.3(RBM20):c.2591A>G (p.Gln864Arg)
|
|
|
|
NM_001134363.3(RBM20):c.25C>T (p.Gln9Ter)
|
rs1861836936
|
|
|
NM_001134363.3(RBM20):c.2600del (p.Gly867fs)
|
|
|
|
NM_001134363.3(RBM20):c.2603G>T (p.Arg868Ile)
|
rs1236252537
|
|
|
NM_001134363.3(RBM20):c.2605C>T (p.Gln869Ter)
|
rs1564663888
|
|
|
NM_001134363.3(RBM20):c.260C>T (p.Ala87Val)
|
|
|
|
NM_001134363.3(RBM20):c.2612AAG[1] (p.Glu872del)
|
rs1236064535
|
|
|
NM_001134363.3(RBM20):c.2627C>A (p.Ser876Tyr)
|
|
|
|
NM_001134363.3(RBM20):c.262A>G (p.Ser88Gly)
|
rs1844329109
|
|
|
NM_001134363.3(RBM20):c.2632C>T (p.Pro878Ser)
|
|
|
|
NM_001134363.3(RBM20):c.2655+6G>C
|
|
|
|
NM_001134363.3(RBM20):c.2667G>A (p.Trp889Ter)
|
|
|
|
NM_001134363.3(RBM20):c.2672G>A (p.Ser891Asn)
|
|
|
|
NM_001134363.3(RBM20):c.2675A>T (p.Glu892Val)
|
|
|
|
NM_001134363.3(RBM20):c.2678G>A (p.Ser893Asn)
|
rs1336475076
|
|
|
NM_001134363.3(RBM20):c.2689G>C (p.Gly897Arg)
|
rs982286757
|
|
|
NM_001134363.3(RBM20):c.2692G>C (p.Glu898Gln)
|
|
|
|
NM_001134363.3(RBM20):c.2694G>C (p.Glu898Asp)
|
|
|
|
NM_001134363.3(RBM20):c.2714T>G (p.Met905Arg)
|
rs1564664312
|
|
|
NM_001134363.3(RBM20):c.2716G>A (p.Glu906Lys)
|
rs1554843516
|
|
|
NM_001134363.3(RBM20):c.2719G>A (p.Glu907Lys)
|
rs1564664325
|
|
|
NM_001134363.3(RBM20):c.2720A>C (p.Glu907Ala)
|
rs1554843517
|
|
|
NM_001134363.3(RBM20):c.2720_2725del (p.Glu907_Leu908del)
|
rs2135120852
|
|
|
NM_001134363.3(RBM20):c.2721G>C (p.Glu907Asp)
|
|
|
|
NM_001134363.3(RBM20):c.2726T>A (p.Val909Glu)
|
|
|
|
NM_001134363.3(RBM20):c.2728A>C (p.Thr910Pro)
|
rs397516606
|
|
|
NM_001134363.3(RBM20):c.2730_2731inv (p.Val911Leu)
|
|
|
|
NM_001134363.3(RBM20):c.2732T>C (p.Val911Ala)
|
rs1590701525
|
|
|
NM_001134363.3(RBM20):c.2740G>T (p.Val914Phe)
|
|
|
|
NM_001134363.3(RBM20):c.2741T>A (p.Val914Asp)
|
rs794729154
|
|
|
NM_001134363.3(RBM20):c.2741T>C (p.Val914Ala)
|
rs794729154
|
|
|
NM_001134363.3(RBM20):c.2746G>A (p.Glu916Lys)
|
rs727504859
|
|
|
NM_001134363.3(RBM20):c.2748AGA[2] (p.Glu918del)
|
rs765389992
|
|
|
NM_001134363.3(RBM20):c.2749G>A (p.Glu917Lys)
|
rs1844907124
|
|
|
NM_001134363.3(RBM20):c.2749G>C (p.Glu917Gln)
|
rs1844907124
|
|
|
NM_001134363.3(RBM20):c.2754A>C (p.Glu918Asp)
|
|
|
|
NM_001134363.3(RBM20):c.2758T>G (p.Phe920Val)
|
|
|
|
NM_001134363.3(RBM20):c.2761A>T (p.Ile921Phe)
|
rs397516608
|
|
|
NM_001134363.3(RBM20):c.2764G>T (p.Val922Leu)
|
rs947100716
|
|
|
NM_001134363.3(RBM20):c.277C>T (p.Gln93Ter)
|
|
|
|
NM_001134363.3(RBM20):c.2802del (p.Ile935fs)
|
rs2135121046
|
|
|
NM_001134363.3(RBM20):c.2807A>G (p.Asp936Gly)
|
rs1225927754
|
|
|
NM_001134363.3(RBM20):c.2833A>T (p.Thr945Ser)
|
rs2135121107
|
|
|
NM_001134363.3(RBM20):c.2840T>C (p.Leu947Pro)
|
|
|
|
NM_001134363.3(RBM20):c.2845G>T (p.Val949Leu)
|
rs1844908453
|
|
|
NM_001134363.3(RBM20):c.2849C>G (p.Thr950Arg)
|
|
|
|
NM_001134363.3(RBM20):c.2866G>C (p.Asp956His)
|
|
|
|
NM_001134363.3(RBM20):c.2868C>A (p.Asp956Glu)
|
rs1554843535
|
|
|
NM_001134363.3(RBM20):c.2893G>A (p.Gly965Arg)
|
rs2135121307
|
|
|
NM_001134363.3(RBM20):c.2905G>T (p.Val969Leu)
|
rs369747752
|
|
|
NM_001134363.3(RBM20):c.2917G>T (p.Ala973Ser)
|
|
|
|
NM_001134363.3(RBM20):c.2920G>A (p.Ala974Thr)
|
|
|
|
NM_001134363.3(RBM20):c.2930G>A (p.Ser977Asn)
|
rs1844910126
|
|
|
NM_001134363.3(RBM20):c.2936A>G (p.Lys979Arg)
|
rs1844910226
|
|
|
NM_001134363.3(RBM20):c.2938T>C (p.Ser980Pro)
|
|
|
|
NM_001134363.3(RBM20):c.2971T>C (p.Cys991Arg)
|
rs2135121541
|
|
|
NM_001134363.3(RBM20):c.2975C>G (p.Pro992Arg)
|
rs1844911019
|
|
|
NM_001134363.3(RBM20):c.2981A>T (p.Asp994Val)
|
|
|
|
NM_001134363.3(RBM20):c.2984T>C (p.Met995Thr)
|
|
|
|
NM_001134363.3(RBM20):c.2988C>A (p.Asp996Glu)
|
rs1249673177
|
|
|
NM_001134363.3(RBM20):c.298C>T (p.Leu100Phe)
|
rs1590673852
|
|
|
NM_001134363.3(RBM20):c.2990T>C (p.Val997Ala)
|
|
|
|
NM_001134363.3(RBM20):c.3011T>G (p.Leu1004Arg)
|
|
|
|
NM_001134363.3(RBM20):c.3019G>A (p.Glu1007Lys)
|
|
|
|
NM_001134363.3(RBM20):c.3053C>T (p.Ser1018Phe)
|
rs2135121918
|
|
|
NM_001134363.3(RBM20):c.3053_3056del (p.Ser1018fs)
|
rs770955344
|
|
|
NM_001134363.3(RBM20):c.3056T>C (p.Leu1019Pro)
|
|
|
|
NM_001134363.3(RBM20):c.3056T>G (p.Leu1019Arg)
|
|
|
|
NM_001134363.3(RBM20):c.3071G>C (p.Cys1024Ser)
|
|
|
|
NM_001134363.3(RBM20):c.3091G>T (p.Gly1031Ter)
|
rs794729157
|
|
|
NM_001134363.3(RBM20):c.3098A>G (p.Glu1033Gly)
|
rs1844914032
|
|
|
NM_001134363.3(RBM20):c.3112C>A (p.His1038Asn)
|
rs891835279
|
|
|
NM_001134363.3(RBM20):c.3116C>T (p.Pro1039Leu)
|
rs2135122079
|
|
|
NM_001134363.3(RBM20):c.3122C>G (p.Pro1041Arg)
|
|
|
|
NM_001134363.3(RBM20):c.3124A>G (p.Thr1042Ala)
|
rs1844914479
|
|
|
NM_001134363.3(RBM20):c.3128T>C (p.Val1043Ala)
|
rs2135122123
|
|
|
NM_001134363.3(RBM20):c.3134A>G (p.Gln1045Arg)
|
rs2135122152
|
|
|
NM_001134363.3(RBM20):c.3137T>G (p.Met1046Arg)
|
|
|
|
NM_001134363.3(RBM20):c.3146del (p.Pro1049fs)
|
|
|
|
NM_001134363.3(RBM20):c.3155C>T (p.Ala1052Val)
|
rs1276115385
|
|
|
NM_001134363.3(RBM20):c.3172C>A (p.Gln1058Lys)
|
|
|
|
NM_001134363.3(RBM20):c.3173A>G (p.Gln1058Arg)
|
rs1844915728
|
|
|
NM_001134363.3(RBM20):c.318_326del (p.Gln107_Ala109del)
|
rs1054494691
|
|
|
NM_001134363.3(RBM20):c.318_327delinsG (p.Gln107_Ala109del)
|
rs1554898774
|
|
|
NM_001134363.3(RBM20):c.3211A>G (p.Thr1071Ala)
|
|
|
|
NM_001134363.3(RBM20):c.3220G>T (p.Asp1074Tyr)
|
|
|
|
NM_001134363.3(RBM20):c.3240C>A (p.Ser1080Arg)
|
rs1217393739
|
|
|
NM_001134363.3(RBM20):c.3244del (p.Leu1082fs)
|
|
|
|
NM_001134363.3(RBM20):c.3265C>T (p.Pro1089Ser)
|
rs147356378
|
|
|
NM_001134363.3(RBM20):c.3266C>A (p.Pro1089His)
|
rs772708424
|
|
|
NM_001134363.3(RBM20):c.3266C>T (p.Pro1089Leu)
|
rs772708424
|
|
|
NM_001134363.3(RBM20):c.3267del (p.Ile1090fs)
|
|
|
|
NM_001134363.3(RBM20):c.3267dup (p.Ile1090fs)
|
rs760334885
|
|
|
NM_001134363.3(RBM20):c.3277G>A (p.Asp1093Asn)
|
rs1844919019
|
|
|
NM_001134363.3(RBM20):c.3277G>T (p.Asp1093Tyr)
|
rs1844919019
|
|
|
NM_001134363.3(RBM20):c.3280C>A (p.Leu1094Ile)
|
|
|
|
NM_001134363.3(RBM20):c.3296G>T (p.Cys1099Phe)
|
|
|
|
NM_001134363.3(RBM20):c.3304G>A (p.Val1102Met)
|
|
|
|
NM_001134363.3(RBM20):c.3305T>C (p.Val1102Ala)
|
|
|
|
NM_001134363.3(RBM20):c.3316+1G>A
|
|
|
|
NM_001134363.3(RBM20):c.3329A>T (p.Tyr1110Phe)
|
rs1844943542
|
|
|
NM_001134363.3(RBM20):c.332C>T (p.Thr111Ile)
|
|
|
|
NM_001134363.3(RBM20):c.3330C>G (p.Tyr1110Ter)
|
rs991930637
|
|
|
NM_001134363.3(RBM20):c.3332T>C (p.Val1111Ala)
|
rs2135125770
|
|
|
NM_001134363.3(RBM20):c.3347T>C (p.Leu1116Pro)
|
|
|
|
NM_001134363.3(RBM20):c.3359C>T (p.Ser1120Leu)
|
|
|
|
NM_001134363.3(RBM20):c.3365A>G (p.Glu1122Gly)
|
rs762399453
|
|
|
NM_001134363.3(RBM20):c.3367T>G (p.Tyr1123Asp)
|
|
|
|
NM_001134363.3(RBM20):c.3382C>G (p.Leu1128Val)
|
|
|
|
NM_001134363.3(RBM20):c.3383dup (p.Lys1129fs)
|
|
|
|
NM_001134363.3(RBM20):c.3394C>G (p.Leu1132Val)
|
rs1554843750
|
|
|
NM_001134363.3(RBM20):c.3394C>T (p.Leu1132Phe)
|
|
|
|
NM_001134363.3(RBM20):c.3395T>G (p.Leu1132Arg)
|
|
|
|
NM_001134363.3(RBM20):c.3403C>T (p.Pro1135Ser)
|
|
|
|
NM_001134363.3(RBM20):c.3424G>T (p.Val1142Leu)
|
|
|
|
NM_001134363.3(RBM20):c.3425T>C (p.Val1142Ala)
|
|
|
|
NM_001134363.3(RBM20):c.3427T>C (p.Phe1143Leu)
|
|
|
|
NM_001134363.3(RBM20):c.3442A>G (p.Ile1148Val)
|
|
|
|
NM_001134363.3(RBM20):c.3451+3A>G
|
rs1844945720
|
|
|
NM_001134363.3(RBM20):c.3451+5G>A
|
rs2135126064
|
|
|
NM_001134363.3(RBM20):c.3452-2del
|
rs1845044801
|
|
|
NM_001134363.3(RBM20):c.3455T>G (p.Val1152Gly)
|
|
|
|
NM_001134363.3(RBM20):c.3473G>C (p.Arg1158Thr)
|
|
|
|
NM_001134363.3(RBM20):c.3476C>A (p.Thr1159Asn)
|
|
|
|
NM_001134363.3(RBM20):c.347C>T (p.Ala116Val)
|
|
|
|
NM_001134363.3(RBM20):c.3480del (p.Tyr1162fs)
|
|
|
|
NM_001134363.3(RBM20):c.3482T>A (p.Phe1161Tyr)
|
|
|
|
NM_001134363.3(RBM20):c.3485A>T (p.Tyr1162Phe)
|
rs1845045632
|
|
|
NM_001134363.3(RBM20):c.3489C>A (p.Cys1163Ter)
|
rs1395153921
|
|
|
NM_001134363.3(RBM20):c.349G>T (p.Ala117Ser)
|
rs373480063
|
|
|
NM_001134363.3(RBM20):c.3501G>T (p.Gly1167=)
|
rs1845046064
|
|
|
NM_001134363.3(RBM20):c.3505T>C (p.Phe1169Leu)
|
|
|
|
NM_001134363.3(RBM20):c.3512C>A (p.Thr1171Lys)
|
rs371181124
|
|
|
NM_001134363.3(RBM20):c.3512C>G (p.Thr1171Arg)
|
rs371181124
|
|
|
NM_001134363.3(RBM20):c.3515G>A (p.Ser1172Asn)
|
rs1165657860
|
|
|
NM_001134363.3(RBM20):c.3517G>A (p.Glu1173Lys)
|
rs542297252
|
|
|
NM_001134363.3(RBM20):c.3532A>G (p.Met1178Val)
|
|
|
|
NM_001134363.3(RBM20):c.353C>T (p.Thr118Ile)
|
rs2135041252
|
|
|
NM_001134363.3(RBM20):c.3551C>T (p.Ala1184Val)
|
rs2135138718
|
|
|
NM_001134363.3(RBM20):c.3556C>T (p.His1186Tyr)
|
|
|
|
NM_001134363.3(RBM20):c.3557A>G (p.His1186Arg)
|
rs1845047234
|
|
|
NM_001134363.3(RBM20):c.3564G>C (p.Arg1188Ser)
|
rs1060503416
|
|
|
NM_001134363.3(RBM20):c.3565A>G (p.Asn1189Asp)
|
|
|
|
NM_001134363.3(RBM20):c.3584C>G (p.Ser1195Cys)
|
rs753102653
|
|
|
NM_001134363.3(RBM20):c.3584C>T (p.Ser1195Phe)
|
rs753102653
|
|
|
NM_001134363.3(RBM20):c.3586C>T (p.Gln1196Ter)
|
rs1845119781
|
|
|
NM_001134363.3(RBM20):c.3592_3612dup (p.Ala1198_Glu1204dup)
|
rs2135147884
|
|
|
NM_001134363.3(RBM20):c.3594_3623dup (p.Glu1199_Ala1208dup)
|
rs1554844950
|
|
|
NM_001134363.3(RBM20):c.3597G>C (p.Glu1199Asp)
|
rs1177544843
|
|
|
NM_001134363.3(RBM20):c.35A>T (p.Asp12Val)
|
rs887276458
|
|
|
NM_001134363.3(RBM20):c.3610G>A (p.Glu1204Lys)
|
|
|
|
NM_001134363.3(RBM20):c.3612G>T (p.Glu1204Asp)
|
rs1845120577
|
|
|
NM_001134363.3(RBM20):c.3622G>T (p.Ala1208Ser)
|
|
|
|
NM_001134363.3(RBM20):c.3632C>T (p.Pro1211Leu)
|
rs587782973
|
|
|
NM_001134363.3(RBM20):c.363C>G (p.Asn121Lys)
|
|
|
|
NM_001134363.3(RBM20):c.3646A>G (p.Ser1216Gly)
|
|
|
|
NM_001134363.3(RBM20):c.3649G>C (p.Gly1217Arg)
|
|
|
|
NM_001134363.3(RBM20):c.364C>G (p.Gln122Glu)
|
rs727504583
|
|
|
NM_001134363.3(RBM20):c.3659del (p.Pro1220fs)
|
rs1485325927
|
|
|
NM_001134363.3(RBM20):c.365A>C (p.Gln122Pro)
|
|
|
|
NM_001134363.3(RBM20):c.3669A>T (p.Glu1223Asp)
|
rs1290645091
|
|
|
NM_001134363.3(RBM20):c.371T>C (p.Leu124Pro)
|
|
|
|
NM_001134363.3(RBM20):c.409C>G (p.Leu137Val)
|
rs876657570
|
|
|
NM_001134363.3(RBM20):c.436C>T (p.Pro146Ser)
|
|
|
|
NM_001134363.3(RBM20):c.437C>T (p.Pro146Leu)
|
rs2135041549
|
|
|
NM_001134363.3(RBM20):c.43G>A (p.Gly15Ser)
|
rs559040957
|
|
|
NM_001134363.3(RBM20):c.440A>G (p.His147Arg)
|
|
|
|
NM_001134363.3(RBM20):c.454G>T (p.Val152Phe)
|
|
|
|
NM_001134363.3(RBM20):c.458C>T (p.Pro153Leu)
|
|
|
|
NM_001134363.3(RBM20):c.460C>T (p.Gln154Ter)
|
rs2135041646
|
|
|
NM_001134363.3(RBM20):c.464A>T (p.His155Leu)
|
rs1844333730
|
|
|
NM_001134363.3(RBM20):c.465TGC[1] (p.Ala158del)
|
rs1231520936
|
|
|
NM_001134363.3(RBM20):c.478C>T (p.Pro160Ser)
|
|
|
|
NM_001134363.3(RBM20):c.502G>A (p.Ala168Thr)
|
|
|
|
NM_001134363.3(RBM20):c.503C>T (p.Ala168Val)
|
|
|
|
NM_001134363.3(RBM20):c.505A>G (p.Ile169Val)
|
rs2135041793
|
|
|
NM_001134363.3(RBM20):c.508G>C (p.Ala170Pro)
|
|
|
|
NM_001134363.3(RBM20):c.514dup (p.Ser172fs)
|
|
|
|
NM_001134363.3(RBM20):c.520C>A (p.Pro174Thr)
|
|
|
|
NM_001134363.3(RBM20):c.521C>G (p.Pro174Arg)
|
|
|
|
NM_001134363.3(RBM20):c.521C>T (p.Pro174Leu)
|
|
|
|
NM_001134363.3(RBM20):c.522del (p.Ser175fs)
|
rs1844336329
|
|
|
NM_001134363.3(RBM20):c.530C>G (p.Thr177Arg)
|
rs183130427
|
|
|
NM_001134363.3(RBM20):c.532C>T (p.Arg178Ter)
|
rs794729161
|
|
|
NM_001134363.3(RBM20):c.536_537delinsTT (p.Gly179Val)
|
rs2135041998
|
|
|
NM_001134363.3(RBM20):c.544C>T (p.Pro182Ser)
|
|
|
|
NM_001134363.3(RBM20):c.551T>C (p.Met184Thr)
|
rs2135042080
|
|
|
NM_001134363.3(RBM20):c.559C>G (p.Pro187Ala)
|
|
|
|
NM_001134363.3(RBM20):c.57_58delinsTT (p.Asp20Tyr)
|
rs2134792632
|
|
|
NM_001134363.3(RBM20):c.580A>G (p.Met194Val)
|
rs2135042187
|
|
|
NM_001134363.3(RBM20):c.586A>T (p.Met196Leu)
|
|
|
|
NM_001134363.3(RBM20):c.593C>A (p.Pro198His)
|
|
|
|
NM_001134363.3(RBM20):c.602G>C (p.Gly201Ala)
|
|
|
|
NM_001134363.3(RBM20):c.639C>G (p.Ile213Met)
|
|
|
|
NM_001134363.3(RBM20):c.659G>A (p.Gly220Glu)
|
rs2135042457
|
|
|
NM_001134363.3(RBM20):c.680G>A (p.Gly227Glu)
|
rs202238753
|
|
|
NM_001134363.3(RBM20):c.68C>T (p.Ala23Val)
|
rs925693368
|
|
|
NM_001134363.3(RBM20):c.700G>C (p.Ala234Pro)
|
|
|
|
NM_001134363.3(RBM20):c.705C>A (p.Ser235Arg)
|
rs1257780371
|
|
|
NM_001134363.3(RBM20):c.70T>A (p.Cys24Ser)
|
rs1371624996
|
|
|
NM_001134363.3(RBM20):c.70T>C (p.Cys24Arg)
|
rs1371624996
|
|
|
NM_001134363.3(RBM20):c.710G>A (p.Gly237Asp)
|
|
|
|
NM_001134363.3(RBM20):c.719A>G (p.Tyr240Cys)
|
|
|
|
NM_001134363.3(RBM20):c.722G>T (p.Gly241Val)
|
rs1844342727
|
|
|
NM_001134363.3(RBM20):c.736G>T (p.Gly246Cys)
|
|
|
|
NM_001134363.3(RBM20):c.741G>T (p.Gln247His)
|
|
|
|
NM_001134363.3(RBM20):c.743C>T (p.Pro248Leu)
|
|
|
|
NM_001134363.3(RBM20):c.746G>T (p.Gly249Val)
|
rs397516623
|
|
|
NM_001134363.3(RBM20):c.776G>A (p.Gly259Asp)
|
|
|
|
NM_001134363.3(RBM20):c.794_795dup (p.His266fs)
|
rs1564844065
|
|
|
NM_001134363.3(RBM20):c.809C>T (p.Thr270Ile)
|
|
|
|
NM_001134363.3(RBM20):c.812G>A (p.Gly271Glu)
|
rs1055998681
|
|
|
NM_001134363.3(RBM20):c.829G>A (p.Ala277Thr)
|
rs894218251
|
|
|
NM_001134363.3(RBM20):c.839A>G (p.Lys280Arg)
|
rs2135043435
|
|
|
NM_001134363.3(RBM20):c.844T>G (p.Phe282Val)
|
rs2135043456
|
|
|
NM_001134363.3(RBM20):c.853C>A (p.Pro285Thr)
|
|
|
|
NM_001134363.3(RBM20):c.854C>T (p.Pro285Leu)
|
|
|
|
NM_001134363.3(RBM20):c.857A>G (p.Asn286Ser)
|
|
|
|
NM_001134363.3(RBM20):c.860C>T (p.Ser287Phe)
|
rs1844346532
|
|
|
NM_001134363.3(RBM20):c.864A>T (p.Gln288His)
|
|
|
|
NM_001134363.3(RBM20):c.870A>G (p.Ser290=)
|
rs1554898912
|
|
|
NM_001134363.3(RBM20):c.874G>T (p.Val292Leu)
|
rs886046702
|
|
|
NM_001134363.3(RBM20):c.87_92del (p.Arg30_Ala31del)
|
rs2134792690
|
|
|
NM_001134363.3(RBM20):c.880A>G (p.Ser294Gly)
|
rs1844347006
|
|
|
NM_001134363.3(RBM20):c.882C>A (p.Ser294Arg)
|
rs374921844
|
|
|
NM_001134363.3(RBM20):c.89_90delinsCA (p.Arg30Pro)
|
rs1861838722
|
|
|
NM_001134363.3(RBM20):c.901del (p.Ala301fs)
|
rs1844347315
|
|
|
NM_001134363.3(RBM20):c.902C>T (p.Ala301Val)
|
|
|
|
NM_001134363.3(RBM20):c.907G>A (p.Gly303Ser)
|
|
|
|
NM_001134363.3(RBM20):c.914A>C (p.Lys305Thr)
|
|
|
|
NM_001134363.3(RBM20):c.922G>A (p.Val308Ile)
|
rs1590674817
|
|
|
NM_001134363.3(RBM20):c.950G>A (p.Ser317Asn)
|
rs1844348749
|
|
|
NM_001134363.3(RBM20):c.956G>A (p.Trp319Ter)
|
|
|
|
NM_001134363.3(RBM20):c.968A>G (p.His323Arg)
|
rs568559249
|
|
|
NM_001134363.3(RBM20):c.973T>C (p.Phe325Leu)
|
|
|
|
NM_001134363.3(RBM20):c.982C>T (p.Gln328Ter)
|
|
|
|
NM_001134363.3(RBM20):c.98C>G (p.Pro33Arg)
|
|
|
|
NM_001134363.3(RBM20):c.98del (p.Pro33fs)
|
rs1413443268
|
|
|
NM_001134363.3(RBM20):c.991C>T (p.Pro331Ser)
|
|
|
|
NM_001159699.2(FHL1):c.121C>T (p.His41Tyr)
|
rs1569530250
|
|
|
NM_001159699.2(FHL1):c.139T>C (p.Cys47Arg)
|
|
|
|
NM_001159699.2(FHL1):c.140_141delinsTA (p.Cys47Leu)
|
rs2148371771
|
|
|
NM_001159699.2(FHL1):c.143T>A (p.Phe48Tyr)
|
|
|
|
NM_001159699.2(FHL1):c.143T>C (p.Phe48Ser)
|
|
|
|
NM_001159699.2(FHL1):c.146A>G (p.Asp49Gly)
|
|
|
|
NM_001159699.2(FHL1):c.148A>C (p.Lys50Gln)
|
rs754421860
|
|
|
NM_001159699.2(FHL1):c.150G>T (p.Lys50Asn)
|
|
|
|
NM_001159699.2(FHL1):c.166T>C (p.Cys56Arg)
|
rs2148371880
|
|
|
NM_001159699.2(FHL1):c.167G>A (p.Cys56Tyr)
|
rs1556638703
|
|
|
NM_001159699.2(FHL1):c.178C>T (p.Arg60Cys)
|
|
|
|
NM_001159699.2(FHL1):c.190G>A (p.Gly64Ser)
|
rs1467233713
|
|
|
NM_001159699.2(FHL1):c.199T>C (p.Ser67Pro)
|
|
|
|
NM_001159699.2(FHL1):c.200C>T (p.Ser67Phe)
|
rs1327221666
|
|
|
NM_001159699.2(FHL1):c.215A>T (p.Tyr72Phe)
|
|
|
|
NM_001159699.2(FHL1):c.223C>T (p.Arg75Cys)
|
rs1343871742
|
|
|
NM_001159699.2(FHL1):c.239C>A (p.Thr80Asn)
|
rs746834335
|
|
|
NM_001159699.2(FHL1):c.258G>C (p.Lys86Asn)
|
rs2073861633
|
|
|
NM_001159699.2(FHL1):c.259T>C (p.Cys87Arg)
|
rs2148373315
|
|
|
NM_001159699.2(FHL1):c.263T>C (p.Leu88Pro)
|
|
|
|
NM_001159699.2(FHL1):c.268C>T (p.Pro90Ser)
|
|
|
|
NM_001159699.2(FHL1):c.300CAA[1] (p.Asn101del)
|
rs1237021594
|
|
|
NM_001159699.2(FHL1):c.301A>C (p.Asn101His)
|
rs2073862975
|
|
|
NM_001159699.2(FHL1):c.317A>G (p.Asn106Ser)
|
|
|
|
NM_001159699.2(FHL1):c.353A>T (p.Lys118Met)
|
rs1311888697
|
|
|
NM_001159699.2(FHL1):c.356G>T (p.Gly119Val)
|
rs1556638919
|
|
|
NM_001159699.2(FHL1):c.360C>G (p.Cys120Trp)
|
rs1277704131
|
|
|
NM_001159699.2(FHL1):c.385C>A (p.Gln129Lys)
|
|
|
|
NM_001159699.2(FHL1):c.388_390dup (p.Asn130dup)
|
rs2073883748
|
|
|
NM_001159699.2(FHL1):c.391G>A (p.Val131Met)
|
|
|
|
NM_001159699.2(FHL1):c.398A>G (p.Tyr133Cys)
|
|
|
|
NM_001159699.2(FHL1):c.404G>C (p.Gly135Ala)
|
rs886042453
|
|
|
NM_001159699.2(FHL1):c.419A>G (p.Lys140Arg)
|
|
|
|
NM_001159699.2(FHL1):c.424T>C (p.Cys142Arg)
|
rs1569530450
|
|
|
NM_001159699.2(FHL1):c.425G>C (p.Cys142Ser)
|
|
|
|
NM_001159699.2(FHL1):c.427T>C (p.Phe143Leu)
|
rs1603271576
|
|
|
NM_001159699.2(FHL1):c.436A>G (p.Ser146Gly)
|
rs878854460
|
|
|
NM_001159699.2(FHL1):c.449A>C (p.Gln150Pro)
|
rs2148375919
|
|
|
NM_001159699.2(FHL1):c.452T>A (p.Val151Asp)
|
rs2073887416
|
|
|
NM_001159699.2(FHL1):c.466A>C (p.Ser156Arg)
|
|
|
|
NM_001159699.2(FHL1):c.469T>C (p.Phe157Leu)
|
rs2073888626
|
|
|
NM_001159699.2(FHL1):c.482_484dup (p.Gly161dup)
|
rs1314023088
|
|
|
NM_001159699.2(FHL1):c.494A>G (p.Tyr165Cys)
|
rs2148376111
|
|
|
NM_001159699.2(FHL1):c.494_496del (p.Tyr165del)
|
rs886044209
|
|
|
NM_001159699.2(FHL1):c.500T>G (p.Val167Gly)
|
|
|
|
NM_001159699.2(FHL1):c.502A>T (p.Thr168Ser)
|
rs2073890274
|
|
|
NM_001159699.2(FHL1):c.505T>G (p.Cys169Gly)
|
rs122458144
|
|
|
NM_001159699.2(FHL1):c.515C>A (p.Thr172Asn)
|
|
|
|
NM_001159699.2(FHL1):c.530A>G (p.His177Arg)
|
|
|
|
NM_001159699.2(FHL1):c.531T>G (p.His177Gln)
|
|
|
|
NM_001159699.2(FHL1):c.534C>G (p.Cys178Trp)
|
rs377693754
|
|
|
NM_001159699.2(FHL1):c.536T>G (p.Val179Gly)
|
rs1556639237
|
|
|
NM_001159699.2(FHL1):c.545A>C (p.Asn182Thr)
|
rs1569530504
|
|
|
NM_001159699.2(FHL1):c.549+3A>G
|
|
|
|
NM_001159699.2(FHL1):c.549+4T>C
|
|
|
|
NM_001159699.2(FHL1):c.549+4T>G
|
|
|
|
NM_001159699.2(FHL1):c.550-13C>G
|
rs372709825
|
|
|
NM_001159699.2(FHL1):c.562G>A (p.Gly188Arg)
|
rs2148378198
|
|
|
NM_001159699.2(FHL1):c.572C>G (p.Thr191Ser)
|
|
|
|
NM_001159699.2(FHL1):c.617C>A (p.Thr206Asn)
|
|
|
|
NM_001159699.2(FHL1):c.621C>G (p.Cys207Trp)
|
rs2148378483
|
|
|
NM_001159699.2(FHL1):c.623C>G (p.Ser208Cys)
|
rs1406462908
|
|
|
NM_001159699.2(FHL1):c.635C>G (p.Ala212Gly)
|
rs2073912710
|
|
|
NM_001159699.2(FHL1):c.63T>G (p.Phe21Leu)
|
rs2073841797
|
|
|
NM_001159699.2(FHL1):c.653C>T (p.Ala218Val)
|
|
|
|
NM_001159699.2(FHL1):c.665A>G (p.Gln222Arg)
|
rs915687031
|
|
|
NM_001159699.2(FHL1):c.68G>T (p.Cys23Phe)
|
rs2073842039
|
|
|
NM_001159699.2(FHL1):c.693C>G (p.Asn231Lys)
|
rs2073914454
|
|
|
NM_001159699.2(FHL1):c.701C>G (p.Ala234Gly)
|
|
|
|
NM_001159699.2(FHL1):c.703AAG[3] (p.Lys236dup)
|
rs1569530609
|
|
|
NM_001159699.2(FHL1):c.725A>G (p.Asn242Ser)
|
rs2073916017
|
|
|
NM_001159699.2(FHL1):c.72C>G (p.His24Gln)
|
|
|
|
NM_001159699.2(FHL1):c.736+3_736+4del
|
|
|
|
NM_001159699.2(FHL1):c.736+5G>T
|
|
|
|
NM_001159699.2(FHL1):c.740T>C (p.Phe247Ser)
|
|
|
|
NM_001159699.2(FHL1):c.757G>A (p.Val253Met)
|
|
|
|
NM_001159699.2(FHL1):c.76T>C (p.Cys26Arg)
|
rs2148371530
|
|
|
NM_001159699.2(FHL1):c.776A>G (p.Gln259Arg)
|
rs1389916579
|
|
|
NM_001159699.2(FHL1):c.77G>A (p.Cys26Tyr)
|
rs2148371537
|
|
|
NM_001159699.2(FHL1):c.784C>T (p.His262Tyr)
|
rs1569530811
|
|
|
NM_001159699.2(FHL1):c.786C>A (p.His262Gln)
|
rs141231353
|
|
|
NM_001159699.2(FHL1):c.794G>A (p.Cys265Tyr)
|
rs56391414
|
|
|
NM_001159699.2(FHL1):c.794G>C (p.Cys265Ser)
|
rs56391414
|
|
|
NM_001159699.2(FHL1):c.802T>C (p.Cys268Arg)
|
|
|
|
NM_001159699.2(FHL1):c.803G>A (p.Cys268Tyr)
|
rs1569530823
|
|
|
NM_001159699.2(FHL1):c.811T>C (p.Cys271Arg)
|
rs1569530825
|
|
|
NM_001159699.2(FHL1):c.812G>A (p.Cys271Tyr)
|
rs869025431
|
|
|
NM_001159699.2(FHL1):c.814T>A (p.Ser272Thr)
|
rs2073964922
|
|
|
NM_001159699.2(FHL1):c.817G>C (p.Val273Leu)
|
rs190006104
|
|
|
NM_001159699.2(FHL1):c.823C>G (p.Leu275Val)
|
rs2148383784
|
|
|
NM_001159699.2(FHL1):c.826G>A (p.Ala276Thr)
|
|
|
|
NM_001159699.2(FHL1):c.830A>G (p.Asn277Ser)
|
rs2148383804
|
|
|
NM_001159699.2(FHL1):c.835C>T (p.Arg279Cys)
|
|
|
|
NM_001159699.2(FHL1):c.847C>A (p.His283Asn)
|
rs2148383871
|
|
|
NM_001159699.2(FHL1):c.852G>C (p.Gln284His)
|
rs774024150
|
|
|
NM_001159699.2(FHL1):c.865T>C (p.Cys289Arg)
|
|
|
|
NM_001159699.2(FHL1):c.865T>G (p.Cys289Gly)
|
rs2073967346
|
|
|
NM_001159699.2(FHL1):c.866G>C (p.Cys289Ser)
|
rs1603273709
|
|
|
NM_001159699.2(FHL1):c.866G>T (p.Cys289Phe)
|
rs1603273709
|
|
|
NM_001159699.2(FHL1):c.868C>T (p.Pro290Ser)
|
rs1039991254
|
|
|
NM_001159699.2(FHL1):c.876_877del (p.Ala293fs)
|
|
|
|
NM_001159699.2(FHL1):c.891A>C (p.Ter297Tyr)
|
rs2073968496
|
|
|
NM_001159699.2(FHL1):c.91C>G (p.Gln31Glu)
|
|
|
|
NM_001161403.3(LIMS2):c.11+1287G>T
|
|
|
|
NM_001161403.3(LIMS2):c.11+1305G>T
|
rs991541495
|
|
|
NM_001161403.3(LIMS2):c.11+1332_11+1333dup
|
rs140836565
|
|
|
NM_001161403.3(LIMS2):c.116_119dup (p.Cys40Ter)
|
|
|
|
NM_001161403.3(LIMS2):c.130G>A (p.Ala44Thr)
|
rs1296516266
|
|
|
NM_001161403.3(LIMS2):c.143G>A (p.Arg48Gln)
|
|
|
|
NM_001161403.3(LIMS2):c.161T>C (p.Leu54Pro)
|
rs1476186407
|
|
|
NM_001161403.3(LIMS2):c.17T>C (p.Met6Thr)
|
rs2105304195
|
|
|
NM_001161403.3(LIMS2):c.189C>G (p.Tyr63Ter)
|
rs35765118
|
|
|
NM_001161403.3(LIMS2):c.190T>C (p.Cys64Arg)
|
rs1684148003
|
|
|
NM_001161403.3(LIMS2):c.221C>T (p.Pro74Leu)
|
|
|
|
NM_001161403.3(LIMS2):c.238+15A>G
|
|
|
|
NM_001161403.3(LIMS2):c.238+1G>A
|
|
|
|
NM_001161403.3(LIMS2):c.238+4A>G
|
|
|
|
NM_001161403.3(LIMS2):c.246C>A (p.Phe82Leu)
|
|
|
|
NM_001161403.3(LIMS2):c.246CAT[1] (p.Ile84del)
|
|
|
|
NM_001161403.3(LIMS2):c.24C>A (p.Asp8Glu)
|
|
|
|
NM_001161403.3(LIMS2):c.271A>G (p.Met91Val)
|
|
|
|
NM_001161403.3(LIMS2):c.319G>A (p.Val107Met)
|
|
|
|
NM_001161403.3(LIMS2):c.329C>T (p.Ala110Val)
|
|
|
|
NM_001161403.3(LIMS2):c.334C>G (p.Leu112Val)
|
rs1684103396
|
|
|
NM_001161403.3(LIMS2):c.345GAA[1] (p.Lys116del)
|
rs762526323
|
|
|
NM_001161403.3(LIMS2):c.378C>G (p.Cys126Trp)
|
rs1226628972
|
|
|
NM_001161403.3(LIMS2):c.385C>G (p.Arg129Gly)
|
rs145123078
|
|
|
NM_001161403.3(LIMS2):c.442G>A (p.Asp148Asn)
|
|
|
|
NM_001161403.3(LIMS2):c.454C>T (p.Leu152Phe)
|
rs1573757070
|
|
|
NM_001161403.3(LIMS2):c.457A>G (p.Met153Val)
|
|
|
|
NM_001161403.3(LIMS2):c.461T>G (p.Phe154Cys)
|
|
|
|
NM_001161403.3(LIMS2):c.471C>G (p.Asp157Glu)
|
|
|
|
NM_001161403.3(LIMS2):c.496T>C (p.Cys166Arg)
|
|
|
|
NM_001161403.3(LIMS2):c.497G>A (p.Cys166Tyr)
|
|
|
|
NM_001161403.3(LIMS2):c.509+3A>G
|
rs746495081
|
|
|
NM_001161403.3(LIMS2):c.539T>C (p.Leu180Pro)
|
rs1682491108
|
|
|
NM_001161403.3(LIMS2):c.577A>G (p.Met193Val)
|
rs1469506308
|
|
|
NM_001161403.3(LIMS2):c.583G>A (p.Val195Ile)
|
|
|
|
NM_001161403.3(LIMS2):c.584T>C (p.Val195Ala)
|
|
|
|
NM_001161403.3(LIMS2):c.589A>T (p.Ile197Phe)
|
rs1558868736
|
|
|
NM_001161403.3(LIMS2):c.595G>C (p.Gly199Arg)
|
|
|
|
NM_001161403.3(LIMS2):c.5C>G (p.Thr2Arg)
|
|
|
|
NM_001161403.3(LIMS2):c.602G>A (p.Cys201Tyr)
|
rs112682507
|
|
|
NM_001161403.3(LIMS2):c.608G>A (p.Arg203Gln)
|
rs779326413
|
|
|
NM_001161403.3(LIMS2):c.61C>A (p.Arg21Ser)
|
|
|
|
NM_001161403.3(LIMS2):c.623G>A (p.Arg208Gln)
|
|
|
|
NM_001161403.3(LIMS2):c.635C>A (p.Ala212Glu)
|
rs138275119
|
|
|
NM_001161403.3(LIMS2):c.655G>A (p.Val219Met)
|
|
|
|
NM_001161403.3(LIMS2):c.665_666del (p.Phe222fs)
|
rs750940675
|
|
|
NM_001161403.3(LIMS2):c.666T>G (p.Phe222Leu)
|
|
|
|
NM_001161403.3(LIMS2):c.669_672del (p.Cys224fs)
|
rs746910960
|
|
|
NM_001161403.3(LIMS2):c.68C>T (p.Ser23Phe)
|
|
|
|
NM_001161403.3(LIMS2):c.6G>A (p.Thr2=)
|
rs1685444261
|
|
|
NM_001161403.3(LIMS2):c.703C>T (p.Arg235Trp)
|
|
|
|
NM_001161403.3(LIMS2):c.704G>A (p.Arg235Gln)
|
|
|
|
NM_001161403.3(LIMS2):c.713A>C (p.Glu238Ala)
|
|
|
|
NM_001161403.3(LIMS2):c.736G>A (p.Glu246Lys)
|
|
|
|
NM_001161403.3(LIMS2):c.73G>A (p.Ala25Thr)
|
rs201527546
|
|
|
NM_001161403.3(LIMS2):c.754-2A>G
|
|
|
|
NM_001161403.3(LIMS2):c.760G>A (p.Gly254Arg)
|
|
|
|
NM_001161403.3(LIMS2):c.764A>C (p.Asp255Ala)
|
rs1682280712
|
|
|
NM_001161403.3(LIMS2):c.802G>T (p.Val268Leu)
|
rs1682276394
|
|
|
NM_001161403.3(LIMS2):c.803-3C>T
|
|
|
|
NM_001161403.3(LIMS2):c.833T>A (p.Val278Glu)
|
|
|
|
NM_001161403.3(LIMS2):c.878+5G>C
|
|
|
|
NM_001161403.3(LIMS2):c.879-1G>A
|
rs1682170683
|
|
|
NM_001161403.3(LIMS2):c.882C>G (p.Asn294Lys)
|
rs149101001
|
|
|
NM_001161403.3(LIMS2):c.882_884del (p.Asn294del)
|
|
|
|
NM_001161403.3(LIMS2):c.898G>A (p.Asp300Asn)
|
|
|
|
NM_001161403.3(LIMS2):c.89A>G (p.Asn30Ser)
|
|
|
|
NM_001161403.3(LIMS2):c.91A>G (p.Ser31Gly)
|
|
|
|
NM_001161403.3(LIMS2):c.927C>G (p.Tyr309Ter)
|
rs368451336
|
|
|
NM_001161403.3(LIMS2):c.928G>A (p.Glu310Lys)
|
|
|
|
NM_001161403.3(LIMS2):c.940C>A (p.Leu314Met)
|
rs1682159709
|
|
|
NM_001161403.3(LIMS2):c.958_969dup (p.Leu320_Leu323dup)
|
rs752066748
|
|
|
NM_001161403.3(LIMS2):c.960_961insT (p.Lys321Ter)
|
|
|
|
NM_001161403.3(LIMS2):c.982T>C (p.Ser328Pro)
|
|
|
|
NM_001161403.3(LIMS2):c.985C>T (p.Arg329Cys)
|
|
|
|
NM_001161403.3(LIMS2):c.985del (p.Arg329fs)
|
|
|
|
NM_001161403.3(LIMS2):c.994C>G (p.Gln332Glu)
|
|
|
|
NM_001232.4(CASQ2):c.1006G>C (p.Val336Leu)
|
|
|
|
NM_001232.4(CASQ2):c.1015-1G>A
|
rs1654202571
|
|
|
NM_001232.4(CASQ2):c.101T>G (p.Val34Gly)
|
rs1280686043
|
|
|
NM_001232.4(CASQ2):c.1021A>G (p.Ser341Gly)
|
|
|
|
NM_001232.4(CASQ2):c.1029G>C (p.Trp343Cys)
|
rs2101052355
|
|
|
NM_001232.4(CASQ2):c.1030A>T (p.Met344Leu)
|
rs1295335060
|
|
|
NM_001232.4(CASQ2):c.1082G>C (p.Trp361Ser)
|
rs786205792
|
|
|
NM_001232.4(CASQ2):c.1119AGATGATGATGA[1] (p.373EDDD[1])
|
rs764957093
|
|
|
NM_001232.4(CASQ2):c.1122TGA[2] (p.Asp376del)
|
rs202241842
|
|
|
NM_001232.4(CASQ2):c.1131_1133del (p.Glu377del)
|
rs765914619
|
|
|
NM_001232.4(CASQ2):c.1132GAT[4] (p.Asp382_Asp383del)
|
|
|
|
NM_001232.4(CASQ2):c.1132GAT[5] (p.Asp383del)
|
rs72554069
|
|
|
NM_001232.4(CASQ2):c.1132GAT[7] (p.Asp383dup)
|
rs72554069
|
|
|
NM_001232.4(CASQ2):c.1134T>A (p.Asp378Glu)
|
rs150486780
|
|
|
NM_001232.4(CASQ2):c.1137T>G (p.Asp379Glu)
|
rs776130201
|
|
|
NM_001232.4(CASQ2):c.1149T>A (p.Asp383Glu)
|
rs1206628721
|
|
|
NM_001232.4(CASQ2):c.115G>A (p.Glu39Lys)
|
rs756636650
|
|
|
NM_001232.4(CASQ2):c.115G>C (p.Glu39Gln)
|
|
|
|
NM_001232.4(CASQ2):c.1168A>G (p.Asn390Asp)
|
rs1570791816
|
|
|
NM_001232.4(CASQ2):c.1187A>T (p.Asp396Val)
|
|
|
|
NM_001232.4(CASQ2):c.1188T>A (p.Asp396Glu)
|
rs751885773
|
|
|
NM_001232.4(CASQ2):c.1188TGA[4] (p.Asp398dup)
|
rs72554070
|
|
|
NM_001232.4(CASQ2):c.118A>G (p.Lys40Glu)
|
rs786205797
|
|
|
NM_001232.4(CASQ2):c.1192G>A (p.Asp398Asn)
|
rs1654192683
|
|
|
NM_001232.4(CASQ2):c.146A>G (p.Tyr49Cys)
|
|
|
|
NM_001232.4(CASQ2):c.158G>A (p.Cys53Tyr)
|
rs151168851
|
|
|
NM_001232.4(CASQ2):c.175C>A (p.Pro59Thr)
|
rs866858282
|
|
|
NM_001232.4(CASQ2):c.226_227inv (p.Val76Thr)
|
|
|
|
NM_001232.4(CASQ2):c.22A>G (p.Ile8Val)
|
rs1649206559
|
|
|
NM_001232.4(CASQ2):c.235-3C>T
|
rs1186837357
|
|
|
NM_001232.4(CASQ2):c.23T>C (p.Ile8Thr)
|
rs1553197935
|
|
|
NM_001232.4(CASQ2):c.242C>T (p.Ala81Val)
|
rs1648331024
|
|
|
NM_001232.4(CASQ2):c.250C>T (p.Leu84Phe)
|
rs1274422352
|
|
|
NM_001232.4(CASQ2):c.265A>G (p.Ile89Val)
|
|
|
|
NM_001232.4(CASQ2):c.268G>C (p.Gly90Arg)
|
|
|
|
NM_001232.4(CASQ2):c.271T>C (p.Phe91Leu)
|
rs1181984320
|
|
|
NM_001232.4(CASQ2):c.278T>C (p.Met93Thr)
|
rs1328122344
|
|
|
NM_001232.4(CASQ2):c.286G>A (p.Ala96Thr)
|
rs2101100994
|
|
|
NM_001232.4(CASQ2):c.292A>G (p.Lys98Glu)
|
|
|
|
NM_001232.4(CASQ2):c.299C>T (p.Ala100Val)
|
|
|
|
NM_001232.4(CASQ2):c.305T>A (p.Leu102His)
|
|
|
|
NM_001232.4(CASQ2):c.31A>T (p.Ile11Phe)
|
rs2101130741
|
|
|
NM_001232.4(CASQ2):c.320-3C>T
|
|
|
|
NM_001232.4(CASQ2):c.324TGA[1] (p.Asp109del)
|
rs1358515759
|
|
|
NM_001232.4(CASQ2):c.326A>T (p.Asp109Val)
|
rs946911897
|
|
|
NM_001232.4(CASQ2):c.337A>C (p.Ser113Arg)
|
|
|
|
NM_001232.4(CASQ2):c.34T>A (p.Tyr12Asn)
|
rs752330104
|
|
|
NM_001232.4(CASQ2):c.354G>A (p.Lys118=)
|
rs1648148662
|
|
|
NM_001232.4(CASQ2):c.389C>T (p.Ala130Val)
|
|
|
|
NM_001232.4(CASQ2):c.406G>A (p.Glu136Lys)
|
|
|
|
NM_001232.4(CASQ2):c.421C>T (p.Leu141=)
|
rs1570831673
|
|
|
NM_001232.4(CASQ2):c.422T>G (p.Leu141Arg)
|
rs1648036832
|
|
|
NM_001232.4(CASQ2):c.446T>G (p.Ile149Ser)
|
rs1060502165
|
|
|
NM_001232.4(CASQ2):c.467_478del (p.Gln156_Glu159del)
|
rs1648034165
|
|
|
NM_001232.4(CASQ2):c.481A>C (p.Ile161Leu)
|
rs146333579
|
|
|
NM_001232.4(CASQ2):c.487G>A (p.Asp163Asn)
|
|
|
|
NM_001232.4(CASQ2):c.498A>T (p.Lys166Asn)
|
rs2101091967
|
|
|
NM_001232.4(CASQ2):c.538A>C (p.Lys180Gln)
|
|
|
|
NM_001232.4(CASQ2):c.541G>C (p.Ala181Pro)
|
rs745879915
|
|
|
NM_001232.4(CASQ2):c.579C>G (p.Ile193Met)
|
|
|
|
NM_001232.4(CASQ2):c.581A>C (p.Lys194Thr)
|
rs755558916
|
|
|
NM_001232.4(CASQ2):c.606G>A (p.Gly202=)
|
rs1647836874
|
|
|
NM_001232.4(CASQ2):c.646T>G (p.Phe216Val)
|
|
|
|
NM_001232.4(CASQ2):c.64G>A (p.Gly22Arg)
|
|
|
|
NM_001232.4(CASQ2):c.650A>T (p.Tyr217Phe)
|
rs373227317
|
|
|
NM_001232.4(CASQ2):c.683C>G (p.Pro228Arg)
|
rs2101079136
|
|
|
NM_001232.4(CASQ2):c.687C>G (p.Asn229Lys)
|
rs2101079130
|
|
|
NM_001232.4(CASQ2):c.691C>T (p.Pro231Ser)
|
rs749796276
|
|
|
NM_001232.4(CASQ2):c.737+14C>T
|
|
|
|
NM_001232.4(CASQ2):c.740C>G (p.Pro247Arg)
|
rs768261470
|
|
|
NM_001232.4(CASQ2):c.749G>T (p.Arg250Leu)
|
rs187306418
|
|
|
NM_001232.4(CASQ2):c.758G>C (p.Arg253Pro)
|
rs199571249
|
|
|
NM_001232.4(CASQ2):c.758G>T (p.Arg253Leu)
|
rs199571249
|
|
|
NM_001232.4(CASQ2):c.783+3A>G
|
rs876657751
|
|
|
NM_001232.4(CASQ2):c.808A>T (p.Ile270Phe)
|
|
|
|
NM_001232.4(CASQ2):c.809T>C (p.Ile270Thr)
|
rs762381137
|
|
|
NM_001232.4(CASQ2):c.835C>A (p.Pro279Thr)
|
rs769435706
|
|
|
NM_001232.4(CASQ2):c.837A>G (p.Pro279=)
|
rs1647217312
|
|
|
NM_001232.4(CASQ2):c.837A>T (p.Pro279=)
|
rs1647217312
|
|
|
NM_001232.4(CASQ2):c.860T>G (p.Ile287Ser)
|
rs368165922
|
|
|
NM_001232.4(CASQ2):c.865A>G (p.Lys289Glu)
|
|
|
|
NM_001232.4(CASQ2):c.878G>C (p.Arg293Pro)
|
rs377691566
|
|
|
NM_001232.4(CASQ2):c.894C>A (p.Asn298Lys)
|
rs923161859
|
|
|
NM_001232.4(CASQ2):c.896C>G (p.Pro299Arg)
|
rs974622106
|
|
|
NM_001232.4(CASQ2):c.898_900dup (p.Asp300dup)
|
rs1557785041
|
|
|
NM_001232.4(CASQ2):c.905G>C (p.Ser302Thr)
|
rs979113189
|
|
|
NM_001232.4(CASQ2):c.933T>A (p.Phe311Leu)
|
rs769960615
|
|
|
NM_001232.4(CASQ2):c.937C>G (p.Leu313Val)
|
rs1654321088
|
|
|
NM_001232.4(CASQ2):c.939+3G>A
|
|
|
|
NM_001232.4(CASQ2):c.959A>C (p.Lys320Thr)
|
rs1654255083
|
|
|
NM_001232.4(CASQ2):c.981C>A (p.Phe327Leu)
|
rs2101053786
|
|
|
NM_001232.4(CASQ2):c.988C>G (p.Gln330Glu)
|
|
|
|
NM_001232.4(CASQ2):c.98G>T (p.Arg33Leu)
|
rs749547712
|
|
|
NM_001256850.1(TTN):c.19885+5G>A
|
rs1064796629
|
|
|
NM_001256850.1(TTN):c.75630_75631delinsTT (p.Arg25211Cys)
|
rs397517716
|
|
|
NM_001267550.2(TTN):c.100060G>C (p.Val33354Leu)
|
rs879221791
|
|
|
NM_001267550.2(TTN):c.100133T>G (p.Leu33378Arg)
|
rs1060500454
|
|
|
NM_001267550.2(TTN):c.100171+3G>A
|
|
|
|
NM_001267550.2(TTN):c.100172-3T>C
|
rs1312922352
|
|
|
NM_001267550.2(TTN):c.100194A>T (p.Lys33398Asn)
|
rs1060500553
|
|
|
NM_001267550.2(TTN):c.100244C>T (p.Pro33415Leu)
|
rs72648282
|
|
|
NM_001267550.2(TTN):c.100397G>A (p.Arg33466His)
|
rs189626540
|
|
|
NM_001267550.2(TTN):c.100436G>A (p.Ser33479Asn)
|
rs1553501815
|
|
|
NM_001267550.2(TTN):c.10062del (p.Val3355fs)
|
rs1553983844
|
|
|
NM_001267550.2(TTN):c.100779A>G (p.Ile33593Met)
|
|
|
|
NM_001267550.2(TTN):c.100786C>T (p.Pro33596Ser)
|
rs927922351
|
|
|
NM_001267550.2(TTN):c.100787C>T (p.Pro33596Leu)
|
|
|
|
NM_001267550.2(TTN):c.100790A>G (p.Lys33597Arg)
|
|
|
|
NM_001267550.2(TTN):c.100796T>C (p.Leu33599Pro)
|
rs775361062
|
|
|
NM_001267550.2(TTN):c.100800A>C (p.Glu33600Asp)
|
rs1575299834
|
|
|
NM_001267550.2(TTN):c.100804A>G (p.Met33602Val)
|
rs759368043
|
|
|
NM_001267550.2(TTN):c.100811C>T (p.Ala33604Val)
|
|
|
|
NM_001267550.2(TTN):c.100820C>T (p.Ala33607Val)
|
|
|
|
NM_001267550.2(TTN):c.100829G>T (p.Gly33610Val)
|
rs373754986
|
|
|
NM_001267550.2(TTN):c.100832A>T (p.Glu33611Val)
|
rs2154136906
|
|
|
NM_001267550.2(TTN):c.100850T>C (p.Ile33617Thr)
|
|
|
|
NM_001267550.2(TTN):c.100858A>C (p.Ser33620Arg)
|
rs1553500669
|
|
|
NM_001267550.2(TTN):c.100880T>C (p.Ile33627Thr)
|
rs1553500627
|
|
|
NM_001267550.2(TTN):c.100883C>T (p.Thr33628Ile)
|
rs200085900
|
|
|
NM_001267550.2(TTN):c.100900G>T (p.Asp33634Tyr)
|
rs1691138917
|
|
|
NM_001267550.2(TTN):c.100907T>C (p.Ile33636Thr)
|
|
|
|
NM_001267550.2(TTN):c.100919G>T (p.Gly33640Val)
|
|
|
|
NM_001267550.2(TTN):c.100921C>T (p.His33641Tyr)
|
rs1357251504
|
|
|
NM_001267550.2(TTN):c.100923C>G (p.His33641Gln)
|
rs1691127745
|
|
|
NM_001267550.2(TTN):c.100934T>C (p.Ile33645Thr)
|
|
|
|
NM_001267550.2(TTN):c.100957C>T (p.Leu33653Phe)
|
rs1178063403
|
|
|
NM_001267550.2(TTN):c.100958T>C (p.Leu33653Pro)
|
rs1691110010
|
|
|
NM_001267550.2(TTN):c.100970A>G (p.Asn33657Ser)
|
rs769340667
|
|
|
NM_001267550.2(TTN):c.100973G>C (p.Gly33658Ala)
|
rs2154136811
|
|
|
NM_001267550.2(TTN):c.100976T>C (p.Val33659Ala)
|
rs2154136807
|
|
|
NM_001267550.2(TTN):c.100980G>C (p.Glu33660Asp)
|
rs727503536
|
|
|
NM_001267550.2(TTN):c.101003T>C (p.Val33668Ala)
|
rs372534712
|
|
|
NM_001267550.2(TTN):c.101008T>C (p.Cys33670Arg)
|
rs1575296634
|
|
|
NM_001267550.2(TTN):c.101009G>A (p.Cys33670Tyr)
|
rs749219080
|
|
|
NM_001267550.2(TTN):c.101045T>C (p.Val33682Ala)
|
|
|
|
NM_001267550.2(TTN):c.101047G>A (p.Glu33683Lys)
|
|
|
|
NM_001267550.2(TTN):c.101050C>G (p.Leu33684Val)
|
rs775824162
|
|
|
NM_001267550.2(TTN):c.101053G>A (p.Asp33685Asn)
|
rs1575295828
|
|
|
NM_001267550.2(TTN):c.101055T>A (p.Asp33685Glu)
|
|
|
|
NM_001267550.2(TTN):c.101056G>A (p.Val33686Met)
|
|
|
|
NM_001267550.2(TTN):c.101060C>G (p.Ala33687Gly)
|
|
|
|
NM_001267550.2(TTN):c.101062G>T (p.Asp33688Tyr)
|
|
|
|
NM_001267550.2(TTN):c.101068C>G (p.Pro33690Ala)
|
|
|
|
NM_001267550.2(TTN):c.101075C>G (p.Pro33692Arg)
|
|
|
|
NM_001267550.2(TTN):c.101081G>A (p.Arg33694Lys)
|
rs747732590
|
|
|
NM_001267550.2(TTN):c.101084G>A (p.Gly33695Glu)
|
rs1553499879
|
|
|
NM_001267550.2(TTN):c.101090A>C (p.Lys33697Thr)
|
rs1691033741
|
|
|
NM_001267550.2(TTN):c.101117T>C (p.Val33706Ala)
|
rs1261733710
|
|
|
NM_001267550.2(TTN):c.10112C>T (p.Thr3371Ile)
|
rs1060500429
|
|
|
NM_001267550.2(TTN):c.101130G>T (p.Trp33710Cys)
|
|
|
|
NM_001267550.2(TTN):c.101134G>A (p.Glu33712Lys)
|
|
|
|
NM_001267550.2(TTN):c.101136G>C (p.Glu33712Asp)
|
rs1060503937
|
|
|
NM_001267550.2(TTN):c.101137C>T (p.Pro33713Ser)
|
|
|
|
NM_001267550.2(TTN):c.10114+1G>T
|
rs2154339650
|
|
|
NM_001267550.2(TTN):c.10114+5G>T
|
rs115985443
|
|
|
NM_001267550.2(TTN):c.101140G>C (p.Ala33714Pro)
|
|
|
|
NM_001267550.2(TTN):c.101146G>A (p.Asp33716Asn)
|
|
|
|
NM_001267550.2(TTN):c.10115-2A>G
|
|
|
|
NM_001267550.2(TTN):c.101153G>A (p.Gly33718Asp)
|
|
|
|
NM_001267550.2(TTN):c.101155A>T (p.Ser33719Cys)
|
rs2154136682
|
|
|
NM_001267550.2(TTN):c.101174T>C (p.Ile33725Thr)
|
|
|
|
NM_001267550.2(TTN):c.101179G>C (p.Glu33727Gln)
|
|
|
|
NM_001267550.2(TTN):c.101184A>T (p.Lys33728Asn)
|
|
|
|
NM_001267550.2(TTN):c.101191A>G (p.Thr33731Ala)
|
rs746383312
|
|
|
NM_001267550.2(TTN):c.101194A>G (p.Thr33732Ala)
|
rs1690986189
|
|
|
NM_001267550.2(TTN):c.101200G>C (p.Glu33734Gln)
|
|
|
|
NM_001267550.2(TTN):c.101206T>G (p.Trp33736Gly)
|
rs1690982138
|
|
|
NM_001267550.2(TTN):c.10122del (p.Val3375fs)
|
|
|
|
NM_001267550.2(TTN):c.101233A>G (p.Thr33745Ala)
|
|
|
|
NM_001267550.2(TTN):c.101233A>T (p.Thr33745Ser)
|
rs1690964903
|
|
|
NM_001267550.2(TTN):c.101242A>C (p.Thr33748Pro)
|
rs1575292990
|
|
|
NM_001267550.2(TTN):c.101248A>T (p.Ile33750Phe)
|
rs1690954165
|
|
|
NM_001267550.2(TTN):c.101252A>G (p.Asn33751Ser)
|
|
|
|
NM_001267550.2(TTN):c.101256_101258del (p.Leu33752del)
|
rs1690948347
|
|
|
NM_001267550.2(TTN):c.101258T>C (p.Phe33753Ser)
|
|
|
|
NM_001267550.2(TTN):c.101291C>G (p.Ala33764Gly)
|
rs773542514
|
|
|
NM_001267550.2(TTN):c.10129del (p.Trp3377fs)
|
rs2088238871
|
|
|
NM_001267550.2(TTN):c.101305_101306delinsTC (p.Gly33769Ser)
|
|
|
|
NM_001267550.2(TTN):c.101306G>A (p.Gly33769Asp)
|
rs1553499045
|
|
|
NM_001267550.2(TTN):c.101313C>T (p.Ser33771=)
|
rs2154136571
|
|
|
NM_001267550.2(TTN):c.101323G>A (p.Glu33775Lys)
|
rs1690927632
|
|
|
NM_001267550.2(TTN):c.101330C>T (p.Ser33777Leu)
|
|
|
|
NM_001267550.2(TTN):c.101339C>T (p.Thr33780Ile)
|
rs2154136558
|
|
|
NM_001267550.2(TTN):c.101341A>G (p.Ile33781Val)
|
|
|
|
NM_001267550.2(TTN):c.101350G>C (p.Glu33784Gln)
|
|
|
|
NM_001267550.2(TTN):c.101354A>G (p.Asp33785Gly)
|
|
|
|
NM_001267550.2(TTN):c.101355T>A (p.Asp33785Glu)
|
|
|
|
NM_001267550.2(TTN):c.101369T>A (p.Met33790Lys)
|
rs876658097
|
|
|
NM_001267550.2(TTN):c.101374T>C (p.Tyr33792His)
|
|
|
|
NM_001267550.2(TTN):c.101377G>A (p.Asp33793Asn)
|
|
|
|
NM_001267550.2(TTN):c.101405T>G (p.Val33802Gly)
|
|
|
|
NM_001267550.2(TTN):c.101417A>C (p.Lys33806Thr)
|
|
|
|
NM_001267550.2(TTN):c.101420C>T (p.Ala33807Val)
|
rs1351679447
|
|
|
NM_001267550.2(TTN):c.101446T>C (p.Tyr33816His)
|
|
|
|
NM_001267550.2(TTN):c.101447A>T (p.Tyr33816Phe)
|
rs2154136483
|
|
|
NM_001267550.2(TTN):c.10144A>T (p.Lys3382Ter)
|
|
|
|
NM_001267550.2(TTN):c.101472T>A (p.Asp33824Glu)
|
rs1575290013
|
|
|
NM_001267550.2(TTN):c.101476G>C (p.Gly33826Arg)
|
|
|
|
NM_001267550.2(TTN):c.101479C>A (p.Arg33827Ser)
|
|
|
|
NM_001267550.2(TTN):c.101486A>T (p.Glu33829Val)
|
|
|
|
NM_001267550.2(TTN):c.101500C>T (p.His33834Tyr)
|
|
|
|
NM_001267550.2(TTN):c.101503C>A (p.Arg33835Ser)
|
rs781516399
|
|
|
NM_001267550.2(TTN):c.101506_101508del (p.Cys33836del)
|
rs1690847769
|
|
|
NM_001267550.2(TTN):c.101521T>C (p.Ser33841Pro)
|
|
|
|
NM_001267550.2(TTN):c.101528A>C (p.Lys33843Thr)
|
rs1690840610
|
|
|
NM_001267550.2(TTN):c.101533T>A (p.Tyr33845Asn)
|
|
|
|
NM_001267550.2(TTN):c.101533T>C (p.Tyr33845His)
|
rs1227515280
|
|
|
NM_001267550.2(TTN):c.101538G>A (p.Met33846Ile)
|
rs1690830241
|
|
|
NM_001267550.2(TTN):c.101567A>T (p.Asp33856Val)
|
rs1690813389
|
|
|
NM_001267550.2(TTN):c.101573T>C (p.Val33858Ala)
|
rs1172459056
|
|
|
NM_001267550.2(TTN):c.101576T>G (p.Leu33859Trp)
|
|
|
|
NM_001267550.2(TTN):c.101590A>G (p.Ile33864Val)
|
|
|
|
NM_001267550.2(TTN):c.101591T>C (p.Ile33864Thr)
|
|
|
|
NM_001267550.2(TTN):c.101613G>T (p.Arg33871Ser)
|
|
|
|
NM_001267550.2(TTN):c.101614C>A (p.His33872Asn)
|
rs1690791818
|
|
|
NM_001267550.2(TTN):c.101629C>A (p.His33877Asn)
|
rs1690786587
|
|
|
NM_001267550.2(TTN):c.101629C>T (p.His33877Tyr)
|
rs1690786587
|
|
|
NM_001267550.2(TTN):c.101632C>T (p.Leu33878Phe)
|
|
|
|
NM_001267550.2(TTN):c.101635C>T (p.His33879Tyr)
|
|
|
|
NM_001267550.2(TTN):c.101645T>C (p.Phe33882Ser)
|
|
|
|
NM_001267550.2(TTN):c.101665G>C (p.Val33889Leu)
|
rs34924609
|
|
|
NM_001267550.2(TTN):c.101675T>C (p.Phe33892Ser)
|
rs1275405365
|
|
|
NM_001267550.2(TTN):c.101683A>G (p.Ile33895Val)
|
|
|
|
NM_001267550.2(TTN):c.101685A>G (p.Ile33895Met)
|
rs2154136307
|
|
|
NM_001267550.2(TTN):c.101692C>T (p.Leu33898Phe)
|
rs371930491
|
|
|
NM_001267550.2(TTN):c.101693T>C (p.Leu33898Pro)
|
rs1575286611
|
|
|
NM_001267550.2(TTN):c.101696A>G (p.Asp33899Gly)
|
rs794729560
|
|
|
NM_001267550.2(TTN):c.101706G>C (p.Glu33902Asp)
|
rs1559042152
|
|
|
NM_001267550.2(TTN):c.101707C>G (p.Arg33903Gly)
|
rs772574722
|
|
|
NM_001267550.2(TTN):c.101737G>A (p.Glu33913Lys)
|
|
|
|
NM_001267550.2(TTN):c.101747T>C (p.Ile33916Thr)
|
rs2154136265
|
|
|
NM_001267550.2(TTN):c.101747T>G (p.Ile33916Ser)
|
|
|
|
NM_001267550.2(TTN):c.101754T>G (p.Ser33918Arg)
|
rs952080555
|
|
|
NM_001267550.2(TTN):c.101761C>T (p.His33921Tyr)
|
|
|
|
NM_001267550.2(TTN):c.101766G>T (p.Gln33922His)
|
|
|
|
NM_001267550.2(TTN):c.101768T>C (p.Val33923Ala)
|
|
|
|
NM_001267550.2(TTN):c.101792A>G (p.His33931Arg)
|
|
|
|
NM_001267550.2(TTN):c.101804T>C (p.Ile33935Thr)
|
|
|
|
NM_001267550.2(TTN):c.101809C>A (p.His33937Asn)
|
|
|
|
NM_001267550.2(TTN):c.101830A>T (p.Asn33944Tyr)
|
|
|
|
NM_001267550.2(TTN):c.101831A>G (p.Asn33944Ser)
|
rs2154136201
|
|
|
NM_001267550.2(TTN):c.101833A>G (p.Ile33945Val)
|
|
|
|
NM_001267550.2(TTN):c.101837T>C (p.Ile33946Thr)
|
|
|
|
NM_001267550.2(TTN):c.101845A>G (p.Thr33949Ala)
|
|
|
|
NM_001267550.2(TTN):c.10186_10192delinsATCATT (p.Glu3396fs)
|
rs1553972275
|
|
|
NM_001267550.2(TTN):c.101870T>C (p.Ile33957Thr)
|
|
|
|
NM_001267550.2(TTN):c.101887G>A (p.Ala33963Thr)
|
|
|
|
NM_001267550.2(TTN):c.101888C>T (p.Ala33963Val)
|
rs2154136158
|
|
|
NM_001267550.2(TTN):c.101902C>A (p.Pro33968Thr)
|
|
|
|
NM_001267550.2(TTN):c.101911A>C (p.Asn33971His)
|
rs2154136145
|
|
|
NM_001267550.2(TTN):c.101912A>T (p.Asn33971Ile)
|
rs1553497184
|
|
|
NM_001267550.2(TTN):c.101945A>G (p.Tyr33982Cys)
|
|
|
|
NM_001267550.2(TTN):c.101947_101948delinsAA (p.Ala33983Lys)
|
rs1690652304
|
|
|
NM_001267550.2(TTN):c.101948C>T (p.Ala33983Val)
|
rs1553497101
|
|
|
NM_001267550.2(TTN):c.101959C>T (p.His33987Tyr)
|
|
|
|
NM_001267550.2(TTN):c.101964G>C (p.Gln33988His)
|
|
|
|
NM_001267550.2(TTN):c.101971G>T (p.Val33991Phe)
|
|
|
|
NM_001267550.2(TTN):c.101972T>A (p.Val33991Asp)
|
|
|
|
NM_001267550.2(TTN):c.101978G>A (p.Ser33993Asn)
|
|
|
|
NM_001267550.2(TTN):c.101986A>G (p.Thr33996Ala)
|
rs1690632346
|
|
|
NM_001267550.2(TTN):c.101993T>C (p.Met33998Thr)
|
rs1559039438
|
|
|
NM_001267550.2(TTN):c.101997G>C (p.Trp33999Cys)
|
rs764821435
|
|
|
NM_001267550.2(TTN):c.102002T>C (p.Leu34001Pro)
|
rs2154136066
|
|
|
NM_001267550.2(TTN):c.102005G>A (p.Gly34002Glu)
|
|
|
|
NM_001267550.2(TTN):c.102013G>A (p.Val34005Ile)
|
rs1690621219
|
|
|
NM_001267550.2(TTN):c.102038A>C (p.Asn34013Thr)
|
rs1559038960
|
|
|
NM_001267550.2(TTN):c.102040C>T (p.Pro34014Ser)
|
|
|
|
NM_001267550.2(TTN):c.102041C>A (p.Pro34014Gln)
|
|
|
|
NM_001267550.2(TTN):c.102043T>C (p.Phe34015Leu)
|
|
|
|
NM_001267550.2(TTN):c.102067A>G (p.Ile34023Val)
|
|
|
|
NM_001267550.2(TTN):c.102071T>C (p.Ile34024Thr)
|
|
|
|
NM_001267550.2(TTN):c.102073G>A (p.Glu34025Lys)
|
|
|
|
NM_001267550.2(TTN):c.102085A>C (p.Asn34029His)
|
rs1690593497
|
|
|
NM_001267550.2(TTN):c.102087T>A (p.Asn34029Lys)
|
rs1690590871
|
|
|
NM_001267550.2(TTN):c.102094T>A (p.Tyr34032Asn)
|
|
|
|
NM_001267550.2(TTN):c.102106G>A (p.Glu34036Lys)
|
|
|
|
NM_001267550.2(TTN):c.102112G>A (p.Ala34038Thr)
|
rs1690579265
|
|
|
NM_001267550.2(TTN):c.102115T>C (p.Phe34039Leu)
|
rs1178807411
|
|
|
NM_001267550.2(TTN):c.102118A>G (p.Lys34040Glu)
|
|
|
|
NM_001267550.2(TTN):c.102129C>A (p.Ser34043Arg)
|
rs2154135970
|
|
|
NM_001267550.2(TTN):c.102130A>C (p.Ile34044Leu)
|
rs1690568887
|
|
|
NM_001267550.2(TTN):c.102130A>G (p.Ile34044Val)
|
|
|
|
NM_001267550.2(TTN):c.102140T>C (p.Met34047Thr)
|
rs745563787
|
|
|
NM_001267550.2(TTN):c.102142G>T (p.Asp34048Tyr)
|
|
|
|
NM_001267550.2(TTN):c.102148G>A (p.Val34050Ile)
|
rs1575280335
|
|
|
NM_001267550.2(TTN):c.102152A>T (p.Asp34051Val)
|
|
|
|
NM_001267550.2(TTN):c.102154C>T (p.Arg34052Trp)
|
rs756924372
|
|
|
NM_001267550.2(TTN):c.102171G>C (p.Glu34057Asp)
|
|
|
|
NM_001267550.2(TTN):c.102193T>C (p.Ser34065Pro)
|
rs1690528772
|
|
|
NM_001267550.2(TTN):c.102202C>T (p.Leu34068Phe)
|
rs999356407
|
|
|
NM_001267550.2(TTN):c.102212C>G (p.Pro34071Arg)
|
|
|
|
NM_001267550.2(TTN):c.102221A>G (p.Lys34074Arg)
|
|
|
|
NM_001267550.2(TTN):c.102222G>C (p.Lys34074Asn)
|
|
|
|
NM_001267550.2(TTN):c.102230T>C (p.Ile34077Thr)
|
rs1290306844
|
|
|
NM_001267550.2(TTN):c.102232_102233inv (p.Glu34078Ser)
|
|
|
|
NM_001267550.2(TTN):c.102234A>T (p.Glu34078Asp)
|
rs1043486033
|
|
|
NM_001267550.2(TTN):c.102242G>C (p.Ser34081Thr)
|
rs1690505739
|
|
|
NM_001267550.2(TTN):c.102245C>A (p.Thr34082Asn)
|
|
|
|
NM_001267550.2(TTN):c.102269A>C (p.His34090Pro)
|
|
|
|
NM_001267550.2(TTN):c.102280T>C (p.Tyr34094His)
|
|
|
|
NM_001267550.2(TTN):c.102281A>C (p.Tyr34094Ser)
|
|
|
|
NM_001267550.2(TTN):c.102293T>A (p.Ile34098Asn)
|
rs1480810435
|
|
|
NM_001267550.2(TTN):c.102314T>A (p.Val34105Asp)
|
|
|
|
NM_001267550.2(TTN):c.102316G>C (p.Val34106Leu)
|
|
|
|
NM_001267550.2(TTN):c.102329G>C (p.Arg34110Pro)
|
rs565347600
|
|
|
NM_001267550.2(TTN):c.102339T>G (p.Cys34113Trp)
|
rs794729561
|
|
|
NM_001267550.2(TTN):c.102344G>A (p.Gly34115Asp)
|
rs1342246182
|
|
|
NM_001267550.2(TTN):c.102365G>T (p.Gly34122Val)
|
|
|
|
NM_001267550.2(TTN):c.102371G>A (p.Ser34124Asn)
|
|
|
|
NM_001267550.2(TTN):c.102373G>A (p.Val34125Ile)
|
|
|
|
NM_001267550.2(TTN):c.102374T>C (p.Val34125Ala)
|
|
|
|
NM_001267550.2(TTN):c.102381A>C (p.Lys34127Asn)
|
|
|
|
NM_001267550.2(TTN):c.102403A>G (p.Ile34135Val)
|
|
|
|
NM_001267550.2(TTN):c.102404T>C (p.Ile34135Thr)
|
rs917268577
|
|
|
NM_001267550.2(TTN):c.10241del (p.Tyr3414fs)
|
rs2154336829
|
|
|
NM_001267550.2(TTN):c.102421C>A (p.Gln34141Lys)
|
|
|
|
NM_001267550.2(TTN):c.102423G>T (p.Gln34141His)
|
rs1553495068
|
|
|
NM_001267550.2(TTN):c.102426A>G (p.Ile34142Met)
|
|
|
|
NM_001267550.2(TTN):c.102430C>T (p.His34144Tyr)
|
rs560027565
|
|
|
NM_001267550.2(TTN):c.102431A>G (p.His34144Arg)
|
rs1553495003
|
|
|
NM_001267550.2(TTN):c.102437T>C (p.Val34146Ala)
|
rs1690411709
|
|
|
NM_001267550.2(TTN):c.102442G>A (p.Glu34148Lys)
|
rs1372227820
|
|
|
NM_001267550.2(TTN):c.102445G>C (p.Glu34149Gln)
|
|
|
|
NM_001267550.2(TTN):c.102446A>C (p.Glu34149Ala)
|
|
|
|
NM_001267550.2(TTN):c.102448G>A (p.Gly34150Arg)
|
|
|
|
NM_001267550.2(TTN):c.102452G>A (p.Gly34151Glu)
|
|
|
|
NM_001267550.2(TTN):c.102455A>G (p.His34152Arg)
|
|
|
|
NM_001267550.2(TTN):c.102456T>A (p.His34152Gln)
|
rs758384544
|
|
|
NM_001267550.2(TTN):c.102456T>G (p.His34152Gln)
|
|
|
|
NM_001267550.2(TTN):c.102458T>A (p.Val34153Asp)
|
rs2154135691
|
|
|
NM_001267550.2(TTN):c.102464A>G (p.Tyr34155Cys)
|
|
|
|
NM_001267550.2(TTN):c.102469T>G (p.Cys34157Gly)
|
|
|
|
NM_001267550.2(TTN):c.102476T>C (p.Ile34159Thr)
|
rs1690397017
|
|
|
NM_001267550.2(TTN):c.102481A>T (p.Asn34161Tyr)
|
|
|
|
NM_001267550.2(TTN):c.102488A>G (p.Asp34163Gly)
|
|
|
|
NM_001267550.2(TTN):c.102491A>G (p.Gln34164Arg)
|
|
|
|
NM_001267550.2(TTN):c.102502G>A (p.Val34168Met)
|
rs2154135668
|
|
|
NM_001267550.2(TTN):c.102503T>C (p.Val34168Ala)
|
|
|
|
NM_001267550.2(TTN):c.102508T>G (p.Trp34170Gly)
|
rs778786999
|
|
|
NM_001267550.2(TTN):c.102510G>C (p.Trp34170Cys)
|
rs1559033550
|
|
|
NM_001267550.2(TTN):c.102512A>T (p.Tyr34171Phe)
|
|
|
|
NM_001267550.2(TTN):c.102529C>A (p.Leu34177Met)
|
|
|
|
NM_001267550.2(TTN):c.102538_102539inv (p.Ser34180Leu)
|
|
|
|
NM_001267550.2(TTN):c.102540T>A (p.Ser34180Arg)
|
|
|
|
NM_001267550.2(TTN):c.102541G>A (p.Glu34181Lys)
|
rs1559033148
|
|
|
NM_001267550.2(TTN):c.102545A>C (p.Lys34182Thr)
|
rs1348175807
|
|
|
NM_001267550.2(TTN):c.102551A>C (p.Glu34184Ala)
|
rs920777916
|
|
|
NM_001267550.2(TTN):c.102554T>C (p.Ile34185Thr)
|
rs1280013764
|
|
|
NM_001267550.2(TTN):c.102566A>T (p.Asp34189Val)
|
rs2154135620
|
|
|
NM_001267550.2(TTN):c.102575C>T (p.Ala34192Val)
|
rs1690350047
|
|
|
NM_001267550.2(TTN):c.102591A>C (p.Lys34197Asn)
|
|
|
|
NM_001267550.2(TTN):c.102592G>A (p.Asp34198Asn)
|
rs948836784
|
|
|
NM_001267550.2(TTN):c.102607G>C (p.Asp34203His)
|
rs1189437049
|
|
|
NM_001267550.2(TTN):c.102607_102615del (p.Asp34203_Gly34205del)
|
rs1559032218
|
|
|
NM_001267550.2(TTN):c.102610G>A (p.Asp34204Asn)
|
|
|
|
NM_001267550.2(TTN):c.102612T>A (p.Asp34204Glu)
|
rs2154135586
|
|
|
NM_001267550.2(TTN):c.102626G>A (p.Cys34209Tyr)
|
rs2154135569
|
|
|
NM_001267550.2(TTN):c.102628A>G (p.Lys34210Glu)
|
rs1690321634
|
|
|
NM_001267550.2(TTN):c.102632T>C (p.Val34211Ala)
|
rs2154135563
|
|
|
NM_001267550.2(TTN):c.102642C>G (p.Asp34214Glu)
|
rs766760792
|
|
|
NM_001267550.2(TTN):c.102646G>A (p.Gly34216Ser)
|
|
|
|
NM_001267550.2(TTN):c.102646G>T (p.Gly34216Cys)
|
|
|
|
NM_001267550.2(TTN):c.102659C>T (p.Ser34220Phe)
|
|
|
|
NM_001267550.2(TTN):c.102670C>A (p.Leu34224Ile)
|
|
|
|
NM_001267550.2(TTN):c.102674T>C (p.Phe34225Ser)
|
|
|
|
NM_001267550.2(TTN):c.102676G>C (p.Val34226Leu)
|
|
|
|
NM_001267550.2(TTN):c.102694G>C (p.Val34232Leu)
|
rs2154135535
|
|
|
NM_001267550.2(TTN):c.10270C>T (p.Gln3424Ter)
|
|
|
|
NM_001267550.2(TTN):c.102721A>G (p.Met34241Val)
|
rs1690291255
|
|
|
NM_001267550.2(TTN):c.102725A>C (p.Lys34242Thr)
|
rs1553493858
|
|
|
NM_001267550.2(TTN):c.102725A>G (p.Lys34242Arg)
|
rs1553493858
|
|
|
NM_001267550.2(TTN):c.102743C>T (p.Thr34248Ile)
|
|
|
|
NM_001267550.2(TTN):c.102745G>C (p.Asp34249His)
|
rs1575271973
|
|
|
NM_001267550.2(TTN):c.102749C>A (p.Thr34250Lys)
|
rs1575271907
|
|
|
NM_001267550.2(TTN):c.102752T>C (p.Met34251Thr)
|
rs750864230
|
|
|
NM_001267550.2(TTN):c.102772C>T (p.Pro34258Ser)
|
rs752360286
|
|
|
NM_001267550.2(TTN):c.102794A>G (p.Tyr34265Cys)
|
rs1559030437
|
|
|
NM_001267550.2(TTN):c.102797A>G (p.Asn34266Ser)
|
|
|
|
NM_001267550.2(TTN):c.102800A>T (p.Lys34267Met)
|
|
|
|
NM_001267550.2(TTN):c.102803C>G (p.Thr34268Arg)
|
|
|
|
NM_001267550.2(TTN):c.102811G>A (p.Val34271Ile)
|
rs794727542
|
|
|
NM_001267550.2(TTN):c.102811G>T (p.Val34271Leu)
|
rs794727542
|
|
|
NM_001267550.2(TTN):c.102815G>A (p.Gly34272Asp)
|
|
|
|
NM_001267550.2(TTN):c.102841A>C (p.Ile34281Leu)
|
rs758945559
|
|
|
NM_001267550.2(TTN):c.102853C>T (p.Pro34285Ser)
|
|
|
|
NM_001267550.2(TTN):c.10285_10288dup (p.Asn3430fs)
|
rs2088191243
|
|
|
NM_001267550.2(TTN):c.102874T>C (p.Tyr34292His)
|
|
|
|
NM_001267550.2(TTN):c.102890A>C (p.Lys34297Thr)
|
rs1559029083
|
|
|
NM_001267550.2(TTN):c.102891A>C (p.Lys34297Asn)
|
rs1019464699
|
|
|
NM_001267550.2(TTN):c.102893T>C (p.Ile34298Thr)
|
rs1690192341
|
|
|
NM_001267550.2(TTN):c.102911A>G (p.Asp34304Gly)
|
|
|
|
NM_001267550.2(TTN):c.102913AAG[1] (p.Lys34306del)
|
rs762798421
|
|
|
NM_001267550.2(TTN):c.102917A>G (p.Lys34306Arg)
|
rs2154135329
|
|
|
NM_001267550.2(TTN):c.102919T>A (p.Tyr34307Asn)
|
|
|
|
NM_001267550.2(TTN):c.102926T>C (p.Phe34309Ser)
|
|
|
|
NM_001267550.2(TTN):c.102934G>A (p.Asp34312Asn)
|
rs1690170603
|
|
|
NM_001267550.2(TTN):c.102938A>C (p.Lys34313Thr)
|
|
|
|
NM_001267550.2(TTN):c.102938A>G (p.Lys34313Arg)
|
rs1027988280
|
|
|
NM_001267550.2(TTN):c.102940G>T (p.Gly34314Cys)
|
|
|
|
NM_001267550.2(TTN):c.102956_102958del (p.Thr34319del)
|
rs878854378
|
|
|
NM_001267550.2(TTN):c.102982G>T (p.Asp34328Tyr)
|
|
|
|
NM_001267550.2(TTN):c.102986C>T (p.Ala34329Val)
|
|
|
|
NM_001267550.2(TTN):c.102994A>G (p.Thr34332Ala)
|
|
|
|
NM_001267550.2(TTN):c.102997G>A (p.Val34333Ile)
|
rs763815899
|
|
|
NM_001267550.2(TTN):c.103000G>A (p.Val34334Met)
|
|
|
|
NM_001267550.2(TTN):c.103015T>C (p.Tyr34339His)
|
|
|
|
NM_001267550.2(TTN):c.103018G>A (p.Gly34340Ser)
|
|
|
|
NM_001267550.2(TTN):c.103018G>T (p.Gly34340Cys)
|
|
|
|
NM_001267550.2(TTN):c.103019G>A (p.Gly34340Asp)
|
|
|
|
NM_001267550.2(TTN):c.103026C>G (p.Asp34342Glu)
|
rs1690121378
|
|
|
NM_001267550.2(TTN):c.103048G>A (p.Val34350Ile)
|
rs2154135237
|
|
|
NM_001267550.2(TTN):c.103052C>T (p.Thr34351Ile)
|
rs772319019
|
|
|
NM_001267550.2(TTN):c.103059C>A (p.His34353Gln)
|
rs2154135228
|
|
|
NM_001267550.2(TTN):c.103060C>A (p.Pro34354Thr)
|
|
|
|
NM_001267550.2(TTN):c.103066C>T (p.Pro34356Ser)
|
|
|
|
NM_001267550.2(TTN):c.103072G>T (p.Asp34358Tyr)
|
rs1690109376
|
|
|
NM_001267550.2(TTN):c.103076G>C (p.Ser34359Thr)
|
|
|
|
NM_001267550.2(TTN):c.103084A>G (p.Arg34362Gly)
|
|
|
|
NM_001267550.2(TTN):c.103091T>C (p.Met34364Thr)
|
rs1057273567
|
|
|
NM_001267550.2(TTN):c.103126G>A (p.Glu34376Lys)
|
|
|
|
NM_001267550.2(TTN):c.103133A>C (p.Gln34378Pro)
|
rs779618819
|
|
|
NM_001267550.2(TTN):c.103137T>A (p.Ser34379Arg)
|
|
|
|
NM_001267550.2(TTN):c.103138G>C (p.Val34380Leu)
|
|
|
|
NM_001267550.2(TTN):c.103145T>C (p.Phe34382Ser)
|
rs2154135165
|
|
|
NM_001267550.2(TTN):c.103151T>A (p.Ile34384Asn)
|
|
|
|
NM_001267550.2(TTN):c.103156G>A (p.Val34386Met)
|
|
|
|
NM_001267550.2(TTN):c.103156G>C (p.Val34386Leu)
|
|
|
|
NM_001267550.2(TTN):c.103159T>C (p.Ser34387Pro)
|
|
|
|
NM_001267550.2(TTN):c.103166T>A (p.Ile34389Asn)
|
rs1575265105
|
|
|
NM_001267550.2(TTN):c.103172C>A (p.Pro34391Gln)
|
rs775343253
|
|
|
NM_001267550.2(TTN):c.103172C>T (p.Pro34391Leu)
|
|
|
|
NM_001267550.2(TTN):c.103183A>C (p.Lys34395Gln)
|
rs368320079
|
|
|
NM_001267550.2(TTN):c.103204C>T (p.Pro34402Ser)
|
rs1361480669
|
|
|
NM_001267550.2(TTN):c.103220C>A (p.Pro34407His)
|
|
|
|
NM_001267550.2(TTN):c.103226T>C (p.Ile34409Thr)
|
rs879013405
|
|
|
NM_001267550.2(TTN):c.103231A>C (p.Ile34411Leu)
|
|
|
|
NM_001267550.2(TTN):c.103232T>A (p.Ile34411Asn)
|
|
|
|
NM_001267550.2(TTN):c.103243G>C (p.Gly34415Arg)
|
rs1170678153
|
|
|
NM_001267550.2(TTN):c.103271G>T (p.Arg34424Met)
|
|
|
|
NM_001267550.2(TTN):c.103276A>G (p.Thr34426Ala)
|
|
|
|
NM_001267550.2(TTN):c.103280T>C (p.Leu34427Ser)
|
|
|
|
NM_001267550.2(TTN):c.103292C>G (p.Thr34431Arg)
|
rs192001910
|
|
|
NM_001267550.2(TTN):c.103309A>G (p.Thr34437Ala)
|
|
|
|
NM_001267550.2(TTN):c.103340G>A (p.Cys34447Tyr)
|
rs770558110
|
|
|
NM_001267550.2(TTN):c.103351C>G (p.Leu34451Val)
|
rs1559023612
|
|
|
NM_001267550.2(TTN):c.103352T>C (p.Leu34451Pro)
|
rs2154135007
|
|
|
NM_001267550.2(TTN):c.103363C>A (p.Arg34455Ser)
|
rs72629785
|
|
|
NM_001267550.2(TTN):c.103370G>A (p.Arg34457Lys)
|
|
|
|
NM_001267550.2(TTN):c.103373A>G (p.Tyr34458Cys)
|
|
|
|
NM_001267550.2(TTN):c.103376A>C (p.Lys34459Thr)
|
|
|
|
NM_001267550.2(TTN):c.103382A>T (p.Gln34461Leu)
|
|
|
|
NM_001267550.2(TTN):c.103390A>G (p.Lys34464Glu)
|
|
|
|
NM_001267550.2(TTN):c.103409A>T (p.Glu34470Val)
|
rs1553491559
|
|
|
NM_001267550.2(TTN):c.103423A>G (p.Lys34475Glu)
|
|
|
|
NM_001267550.2(TTN):c.103436A>G (p.Lys34479Arg)
|
rs747582398
|
|
|
NM_001267550.2(TTN):c.103439C>A (p.Thr34480Asn)
|
|
|
|
NM_001267550.2(TTN):c.103439C>T (p.Thr34480Ile)
|
|
|
|
NM_001267550.2(TTN):c.103441C>T (p.Leu34481Phe)
|
rs1689951104
|
|
|
NM_001267550.2(TTN):c.103445G>T (p.Arg34482Ile)
|
rs1689948996
|
|
|
NM_001267550.2(TTN):c.103449G>C (p.Met34483Ile)
|
rs1470149812
|
|
|
NM_001267550.2(TTN):c.103450G>C (p.Ala34484Pro)
|
rs754949098
|
|
|
NM_001267550.2(TTN):c.103451C>T (p.Ala34484Val)
|
|
|
|
NM_001267550.2(TTN):c.103455A>T (p.Glu34485Asp)
|
rs746863482
|
|
|
NM_001267550.2(TTN):c.103457T>C (p.Ile34486Thr)
|
rs2154134918
|
|
|
NM_001267550.2(TTN):c.103476T>A (p.Ser34492Arg)
|
rs878854283
|
|
|
NM_001267550.2(TTN):c.103477G>A (p.Val34493Ile)
|
rs1166346683
|
|
|
NM_001267550.2(TTN):c.103478T>C (p.Val34493Ala)
|
rs1553491321
|
|
|
NM_001267550.2(TTN):c.103492G>T (p.Val34498Leu)
|
|
|
|
NM_001267550.2(TTN):c.1034G>A (p.Trp345Ter)
|
rs1574929972
|
|
|
NM_001267550.2(TTN):c.103502A>C (p.Glu34501Ala)
|
rs1369317965
|
|
|
NM_001267550.2(TTN):c.103505C>A (p.Ala34502Asp)
|
|
|
|
NM_001267550.2(TTN):c.103523T>C (p.Val34508Ala)
|
|
|
|
NM_001267550.2(TTN):c.103537G>C (p.Ala34513Pro)
|
|
|
|
NM_001267550.2(TTN):c.103540G>T (p.Val34514Leu)
|
rs769311670
|
|
|
NM_001267550.2(TTN):c.103543A>T (p.Ser34515Cys)
|
|
|
|
NM_001267550.2(TTN):c.103549A>C (p.Lys34517Gln)
|
|
|
|
NM_001267550.2(TTN):c.103564G>A (p.Glu34522Lys)
|
rs1689887445
|
|
|
NM_001267550.2(TTN):c.103579A>C (p.Ile34527Leu)
|
rs1689876003
|
|
|
NM_001267550.2(TTN):c.103582G>A (p.Glu34528Lys)
|
rs2154134838
|
|
|
NM_001267550.2(TTN):c.103582G>C (p.Glu34528Gln)
|
|
|
|
NM_001267550.2(TTN):c.103597G>C (p.Glu34533Gln)
|
|
|
|
NM_001267550.2(TTN):c.103598A>G (p.Glu34533Gly)
|
rs1484143627
|
|
|
NM_001267550.2(TTN):c.103612A>T (p.Met34538Leu)
|
rs376233324
|
|
|
NM_001267550.2(TTN):c.103615C>T (p.Pro34539Ser)
|
|
|
|
NM_001267550.2(TTN):c.103623T>G (p.Asp34541Glu)
|
rs1559020199
|
|
|
NM_001267550.2(TTN):c.103628C>T (p.Pro34543Leu)
|
rs1575257488
|
|
|
NM_001267550.2(TTN):c.103641G>T (p.Lys34547Asn)
|
rs2154134776
|
|
|
NM_001267550.2(TTN):c.103648C>G (p.Gln34550Glu)
|
|
|
|
NM_001267550.2(TTN):c.103659AGA[2] (p.Glu34555del)
|
rs759860918
|
|
|
NM_001267550.2(TTN):c.103662A>C (p.Glu34554Asp)
|
|
|
|
NM_001267550.2(TTN):c.103663G>A (p.Glu34555Lys)
|
|
|
|
NM_001267550.2(TTN):c.103665A>C (p.Glu34555Asp)
|
|
|
|
NM_001267550.2(TTN):c.103694T>C (p.Met34565Thr)
|
|
|
|
NM_001267550.2(TTN):c.103696T>A (p.Ser34566Thr)
|
|
|
|
NM_001267550.2(TTN):c.103696T>G (p.Ser34566Ala)
|
rs556060586
|
|
|
NM_001267550.2(TTN):c.103699G>T (p.Asp34567Tyr)
|
|
|
|
NM_001267550.2(TTN):c.103702A>G (p.Met34568Val)
|
|
|
|
NM_001267550.2(TTN):c.103703T>C (p.Met34568Thr)
|
rs1350583693
|
|
|
NM_001267550.2(TTN):c.103721T>G (p.Ile34574Arg)
|
rs2154134707
|
|
|
NM_001267550.2(TTN):c.103723C>A (p.Arg34575Ser)
|
rs190866742
|
|
|
NM_001267550.2(TTN):c.103726G>C (p.Asp34576His)
|
|
|
|
NM_001267550.2(TTN):c.103730A>T (p.Gln34577Leu)
|
|
|
|
NM_001267550.2(TTN):c.103736A>C (p.Glu34579Ala)
|
rs1386348360
|
|
|
NM_001267550.2(TTN):c.103739T>G (p.Met34580Arg)
|
rs775137392
|
|
|
NM_001267550.2(TTN):c.103742C>G (p.Pro34581Arg)
|
rs1357155692
|
|
|
NM_001267550.2(TTN):c.103750C>T (p.Leu34584Phe)
|
rs1559018367
|
|
|
NM_001267550.2(TTN):c.103759G>A (p.Val34587Ile)
|
rs1188944324
|
|
|
NM_001267550.2(TTN):c.103774C>A (p.Pro34592Thr)
|
rs748291093
|
|
|
NM_001267550.2(TTN):c.103774C>T (p.Pro34592Ser)
|
rs748291093
|
|
|
NM_001267550.2(TTN):c.103777A>C (p.Lys34593Gln)
|
rs1689768170
|
|
|
NM_001267550.2(TTN):c.103796G>C (p.Arg34599Thr)
|
rs1362778188
|
|
|
NM_001267550.2(TTN):c.103801G>A (p.Glu34601Lys)
|
|
|
|
NM_001267550.2(TTN):c.103818G>A (p.Met34606Ile)
|
|
|
|
NM_001267550.2(TTN):c.10381dup (p.Leu3461fs)
|
|
|
|
NM_001267550.2(TTN):c.103829G>T (p.Arg34610Leu)
|
|
|
|
NM_001267550.2(TTN):c.103831A>G (p.Ile34611Val)
|
|
|
|
NM_001267550.2(TTN):c.103840C>G (p.Gln34614Glu)
|
rs2154134587
|
|
|
NM_001267550.2(TTN):c.103865C>T (p.Pro34622Leu)
|
rs762716728
|
|
|
NM_001267550.2(TTN):c.103879G>C (p.Asp34627His)
|
|
|
|
NM_001267550.2(TTN):c.103882G>T (p.Asp34628Tyr)
|
rs1553490035
|
|
|
NM_001267550.2(TTN):c.103888G>A (p.Glu34630Lys)
|
|
|
|
NM_001267550.2(TTN):c.103892T>C (p.Ile34631Thr)
|
rs776709904
|
|
|
NM_001267550.2(TTN):c.103892T>G (p.Ile34631Arg)
|
rs776709904
|
|
|
NM_001267550.2(TTN):c.103897A>G (p.Arg34633Gly)
|
|
|
|
NM_001267550.2(TTN):c.103901C>T (p.Pro34634Leu)
|
|
|
|
NM_001267550.2(TTN):c.103919C>T (p.Pro34640Leu)
|
rs2154134518
|
|
|
NM_001267550.2(TTN):c.10391A>C (p.Lys3464Thr)
|
rs1553970272
|
|
|
NM_001267550.2(TTN):c.103921_103923del (p.Ser34641del)
|
rs774574734
|
|
|
NM_001267550.2(TTN):c.103931A>C (p.Tyr34644Ser)
|
|
|
|
NM_001267550.2(TTN):c.103933G>A (p.Asp34645Asn)
|
|
|
|
NM_001267550.2(TTN):c.103936T>C (p.Phe34646Leu)
|
|
|
|
NM_001267550.2(TTN):c.103948C>A (p.Pro34650Thr)
|
rs879134298
|
|
|
NM_001267550.2(TTN):c.103957C>A (p.Arg34653Ser)
|
rs773002407
|
|
|
NM_001267550.2(TTN):c.103958G>T (p.Arg34653Leu)
|
rs72629786
|
|
|
NM_001267550.2(TTN):c.10395del (p.Ser3466fs)
|
rs2087781053
|
|
|
NM_001267550.2(TTN):c.103961C>T (p.Ser34654Phe)
|
rs1689685184
|
|
|
NM_001267550.2(TTN):c.103963C>T (p.Leu34655Phe)
|
|
|
|
NM_001267550.2(TTN):c.103964T>C (p.Leu34655Pro)
|
|
|
|
NM_001267550.2(TTN):c.103973T>C (p.Ile34658Thr)
|
rs1689681272
|
|
|
NM_001267550.2(TTN):c.103999A>G (p.Ile34667Val)
|
rs749651526
|
|
|
NM_001267550.2(TTN):c.1039C>T (p.Gln347Ter)
|
rs1561470471
|
|
|
NM_001267550.2(TTN):c.104006A>C (p.Asp34669Ala)
|
|
|
|
NM_001267550.2(TTN):c.104024G>A (p.Arg34675Lys)
|
rs765125364
|
|
|
NM_001267550.2(TTN):c.104024G>C (p.Arg34675Thr)
|
|
|
|
NM_001267550.2(TTN):c.104031G>C (p.Glu34677Asp)
|
rs2154134425
|
|
|
NM_001267550.2(TTN):c.104039G>A (p.Arg34680Lys)
|
rs753652745
|
|
|
NM_001267550.2(TTN):c.104040G>C (p.Arg34680Ser)
|
|
|
|
NM_001267550.2(TTN):c.104052AGA[1] (p.Glu34686del)
|
rs1689633500
|
|
|
NM_001267550.2(TTN):c.104059C>A (p.Leu34687Ile)
|
rs1575250160
|
|
|
NM_001267550.2(TTN):c.104060T>G (p.Leu34687Arg)
|
rs2154134402
|
|
|
NM_001267550.2(TTN):c.104063A>G (p.Glu34688Gly)
|
|
|
|
NM_001267550.2(TTN):c.104069G>T (p.Gly34690Val)
|
rs964554853
|
|
|
NM_001267550.2(TTN):c.104080T>C (p.Ser34694Pro)
|
rs768203673
|
|
|
NM_001267550.2(TTN):c.104080T>G (p.Ser34694Ala)
|
rs768203673
|
|
|
NM_001267550.2(TTN):c.104090G>C (p.Ser34697Thr)
|
|
|
|
NM_001267550.2(TTN):c.104098C>A (p.Pro34700Thr)
|
rs778877604
|
|
|
NM_001267550.2(TTN):c.104098C>T (p.Pro34700Ser)
|
rs778877604
|
|
|
NM_001267550.2(TTN):c.104099C>G (p.Pro34700Arg)
|
|
|
|
NM_001267550.2(TTN):c.104104C>G (p.His34702Asp)
|
|
|
|
NM_001267550.2(TTN):c.104113C>A (p.Leu34705Ile)
|
|
|
|
NM_001267550.2(TTN):c.104113C>T (p.Leu34705Phe)
|
|
|
|
NM_001267550.2(TTN):c.104119A>G (p.Ser34707Gly)
|
|
|
|
NM_001267550.2(TTN):c.104128T>C (p.Tyr34710His)
|
|
|
|
NM_001267550.2(TTN):c.104144C>T (p.Ala34715Val)
|
|
|
|
NM_001267550.2(TTN):c.104147A>G (p.His34716Arg)
|
|
|
|
NM_001267550.2(TTN):c.104155G>A (p.Val34719Met)
|
|
|
|
NM_001267550.2(TTN):c.104159A>T (p.Glu34720Val)
|
|
|
|
NM_001267550.2(TTN):c.10415C>G (p.Ser3472Ter)
|
|
|
|
NM_001267550.2(TTN):c.104161G>A (p.Glu34721Lys)
|
rs1689557329
|
|
|
NM_001267550.2(TTN):c.104162A>C (p.Glu34721Ala)
|
|
|
|
NM_001267550.2(TTN):c.104174A>C (p.Asp34725Ala)
|
rs771698375
|
|
|
NM_001267550.2(TTN):c.104174A>G (p.Asp34725Gly)
|
|
|
|
NM_001267550.2(TTN):c.104181G>T (p.Arg34727Ser)
|
|
|
|
NM_001267550.2(TTN):c.104188A>G (p.Thr34730Ala)
|
rs949998241
|
|
|
NM_001267550.2(TTN):c.104200C>T (p.Pro34734Ser)
|
|
|
|
NM_001267550.2(TTN):c.104203A>G (p.Thr34735Ala)
|
rs1451123812
|
|
|
NM_001267550.2(TTN):c.104204C>G (p.Thr34735Arg)
|
rs755986938
|
|
|
NM_001267550.2(TTN):c.104209G>A (p.Ala34737Thr)
|
|
|
|
NM_001267550.2(TTN):c.104215G>C (p.Ala34739Pro)
|
rs796476794
|
|
|
NM_001267550.2(TTN):c.104216C>G (p.Ala34739Gly)
|
|
|
|
NM_001267550.2(TTN):c.104221A>G (p.Thr34741Ala)
|
rs2154134261
|
|
|
NM_001267550.2(TTN):c.104225G>A (p.Ser34742Asn)
|
rs765636638
|
|
|
NM_001267550.2(TTN):c.104225G>T (p.Ser34742Ile)
|
|
|
|
NM_001267550.2(TTN):c.104237_104245del (p.Leu34746_Glu34748del)
|
rs1689509779
|
|
|
NM_001267550.2(TTN):c.104258C>T (p.Ala34753Val)
|
rs770515852
|
|
|
NM_001267550.2(TTN):c.104263T>A (p.Tyr34755Asn)
|
rs1553488819
|
|
|
NM_001267550.2(TTN):c.104290A>G (p.Ile34764Val)
|
|
|
|
NM_001267550.2(TTN):c.104294T>C (p.Met34765Thr)
|
|
|
|
NM_001267550.2(TTN):c.104306A>T (p.Glu34769Val)
|
rs2154134195
|
|
|
NM_001267550.2(TTN):c.104311G>A (p.Glu34771Lys)
|
rs2154134190
|
|
|
NM_001267550.2(TTN):c.104318T>C (p.Leu34773Ser)
|
|
|
|
NM_001267550.2(TTN):c.104323C>T (p.Arg34775Cys)
|
|
|
|
NM_001267550.2(TTN):c.104327C>T (p.Pro34776Leu)
|
|
|
|
NM_001267550.2(TTN):c.104332A>G (p.Thr34778Ala)
|
rs765838260
|
|
|
NM_001267550.2(TTN):c.104343G>C (p.Gln34781His)
|
|
|
|
NM_001267550.2(TTN):c.104357A>G (p.Tyr34786Cys)
|
rs1689457386
|
|
|
NM_001267550.2(TTN):c.104365G>C (p.Glu34789Gln)
|
rs190565627
|
|
|
NM_001267550.2(TTN):c.104369T>C (p.Leu34790Pro)
|
|
|
|
NM_001267550.2(TTN):c.104381C>T (p.Ser34794Leu)
|
rs1302011604
|
|
|
NM_001267550.2(TTN):c.104390A>C (p.Glu34797Ala)
|
|
|
|
NM_001267550.2(TTN):c.104405A>T (p.Lys34802Ile)
|
rs1689437836
|
|
|
NM_001267550.2(TTN):c.104413C>G (p.Arg34805Gly)
|
|
|
|
NM_001267550.2(TTN):c.104414G>C (p.Arg34805Pro)
|
rs115150240
|
|
|
NM_001267550.2(TTN):c.104417A>C (p.Gln34806Pro)
|
|
|
|
NM_001267550.2(TTN):c.104420G>A (p.Arg34807Lys)
|
rs973111888
|
|
|
NM_001267550.2(TTN):c.104421A>C (p.Arg34807Ser)
|
rs2154134105
|
|
|
NM_001267550.2(TTN):c.104422G>A (p.Glu34808Lys)
|
|
|
|
NM_001267550.2(TTN):c.104434A>G (p.Ile34812Val)
|
rs1245438198
|
|
|
NM_001267550.2(TTN):c.104438C>A (p.Thr34813Lys)
|
|
|
|
NM_001267550.2(TTN):c.104447A>G (p.Glu34816Gly)
|
|
|
|
NM_001267550.2(TTN):c.104448_104450dup (p.Glu34818_Tyr34819insGlu)
|
|
|
|
NM_001267550.2(TTN):c.104449G>A (p.Glu34817Lys)
|
rs1553488312
|
|
|
NM_001267550.2(TTN):c.104449GAA[1] (p.Glu34818del)
|
rs780929362
|
|
|
NM_001267550.2(TTN):c.10444G>A (p.Val3482Ile)
|
rs1553970119
|
|
|
NM_001267550.2(TTN):c.104450A>G (p.Glu34817Gly)
|
|
|
|
NM_001267550.2(TTN):c.104455T>C (p.Tyr34819His)
|
rs1553488294
|
|
|
NM_001267550.2(TTN):c.104474C>G (p.Ala34825Gly)
|
rs766157074
|
|
|
NM_001267550.2(TTN):c.104477A>G (p.Gln34826Arg)
|
rs2154134073
|
|
|
NM_001267550.2(TTN):c.104483A>G (p.Glu34828Gly)
|
rs975412383
|
|
|
NM_001267550.2(TTN):c.104498C>G (p.Ala34833Gly)
|
|
|
|
NM_001267550.2(TTN):c.104498C>T (p.Ala34833Val)
|
rs1164350939
|
|
|
NM_001267550.2(TTN):c.104501C>G (p.Ser34834Cys)
|
|
|
|
NM_001267550.2(TTN):c.104503A>G (p.Arg34835Gly)
|
rs938452034
|
|
|
NM_001267550.2(TTN):c.104504G>C (p.Arg34835Thr)
|
rs2154134050
|
|
|
NM_001267550.2(TTN):c.104509C>G (p.Leu34837Val)
|
|
|
|
NM_001267550.2(TTN):c.104513G>A (p.Arg34838Lys)
|
|
|
|
NM_001267550.2(TTN):c.104531C>T (p.Ser34844Phe)
|
|
|
|
NM_001267550.2(TTN):c.104545G>A (p.Glu34849Lys)
|
|
|
|
NM_001267550.2(TTN):c.104546A>C (p.Glu34849Ala)
|
rs1553487855
|
|
|
NM_001267550.2(TTN):c.104584C>T (p.Pro34862Ser)
|
rs2154133959
|
|
|
NM_001267550.2(TTN):c.104599G>A (p.Glu34867Lys)
|
rs1689335929
|
|
|
NM_001267550.2(TTN):c.104623A>G (p.Arg34875Gly)
|
rs377594642
|
|
|
NM_001267550.2(TTN):c.104624G>A (p.Arg34875Lys)
|
|
|
|
NM_001267550.2(TTN):c.104638G>A (p.Glu34880Lys)
|
rs1404462483
|
|
|
NM_001267550.2(TTN):c.104638G>C (p.Glu34880Gln)
|
rs1404462483
|
|
|
NM_001267550.2(TTN):c.104647C>T (p.Arg34883Cys)
|
rs1003158162
|
|
|
NM_001267550.2(TTN):c.104657C>T (p.Ser34886Phe)
|
|
|
|
NM_001267550.2(TTN):c.104659C>T (p.Pro34887Ser)
|
rs1689308742
|
|
|
NM_001267550.2(TTN):c.104660C>T (p.Pro34887Leu)
|
rs774131659
|
|
|
NM_001267550.2(TTN):c.104664C>G (p.Ser34888Arg)
|
rs1365150853
|
|
|
NM_001267550.2(TTN):c.104668G>C (p.Val34890Leu)
|
|
|
|
NM_001267550.2(TTN):c.104671T>A (p.Ser34891Thr)
|
|
|
|
NM_001267550.2(TTN):c.104675G>A (p.Ser34892Asn)
|
|
|
|
NM_001267550.2(TTN):c.104680A>G (p.Arg34894Gly)
|
|
|
|
NM_001267550.2(TTN):c.104693G>C (p.Arg34898Thr)
|
|
|
|
NM_001267550.2(TTN):c.104699A>T (p.Glu34900Val)
|
|
|
|
NM_001267550.2(TTN):c.104702G>A (p.Arg34901Lys)
|
rs1689282112
|
|
|
NM_001267550.2(TTN):c.104711G>T (p.Arg34904Ile)
|
rs780506196
|
|
|
NM_001267550.2(TTN):c.104712A>T (p.Arg34904Ser)
|
|
|
|
NM_001267550.2(TTN):c.104713T>C (p.Phe34905Leu)
|
rs2154133865
|
|
|
NM_001267550.2(TTN):c.104717A>G (p.Asp34906Gly)
|
|
|
|
NM_001267550.2(TTN):c.104717A>T (p.Asp34906Val)
|
|
|
|
NM_001267550.2(TTN):c.104720T>C (p.Ile34907Thr)
|
|
|
|
NM_001267550.2(TTN):c.104726C>T (p.Ser34909Phe)
|
rs755637336
|
|
|
NM_001267550.2(TTN):c.104731T>C (p.Tyr34911His)
|
|
|
|
NM_001267550.2(TTN):c.104738C>T (p.Ser34913Phe)
|
rs2154133838
|
|
|
NM_001267550.2(TTN):c.104746G>A (p.Ala34916Thr)
|
|
|
|
NM_001267550.2(TTN):c.104747C>T (p.Ala34916Val)
|
|
|
|
NM_001267550.2(TTN):c.104758A>C (p.Thr34920Pro)
|
|
|
|
NM_001267550.2(TTN):c.104767A>T (p.Thr34923Ser)
|
rs1689239806
|
|
|
NM_001267550.2(TTN):c.104776A>T (p.Arg34926Trp)
|
|
|
|
NM_001267550.2(TTN):c.104783A>G (p.Tyr34928Cys)
|
rs1470980085
|
|
|
NM_001267550.2(TTN):c.104792T>G (p.Leu34931Trp)
|
|
|
|
NM_001267550.2(TTN):c.104794A>G (p.Ser34932Gly)
|
|
|
|
NM_001267550.2(TTN):c.104796T>G (p.Ser34932Arg)
|
rs794729566
|
|
|
NM_001267550.2(TTN):c.104800C>A (p.Gln34934Lys)
|
|
|
|
NM_001267550.2(TTN):c.104804C>T (p.Pro34935Leu)
|
|
|
|
NM_001267550.2(TTN):c.104815G>C (p.Asp34939His)
|
rs752164427
|
|
|
NM_001267550.2(TTN):c.104830A>G (p.Ile34944Val)
|
|
|
|
NM_001267550.2(TTN):c.104837T>A (p.Leu34946Gln)
|
|
|
|
NM_001267550.2(TTN):c.104837T>G (p.Leu34946Arg)
|
rs1185207035
|
|
|
NM_001267550.2(TTN):c.104846G>A (p.Arg34949His)
|
|
|
|
NM_001267550.2(TTN):c.104854A>G (p.Arg34952Gly)
|
|
|
|
NM_001267550.2(TTN):c.104857G>A (p.Val34953Ile)
|
rs776593972
|
|
|
NM_001267550.2(TTN):c.104857G>T (p.Val34953Leu)
|
|
|
|
NM_001267550.2(TTN):c.104860C>T (p.Pro34954Ser)
|
|
|
|
NM_001267550.2(TTN):c.104861C>T (p.Pro34954Leu)
|
rs1689198573
|
|
|
NM_001267550.2(TTN):c.104863T>G (p.Cys34955Gly)
|
|
|
|
NM_001267550.2(TTN):c.104865T>G (p.Cys34955Trp)
|
|
|
|
NM_001267550.2(TTN):c.104876C>A (p.Thr34959Lys)
|
|
|
|
NM_001267550.2(TTN):c.104883T>G (p.Phe34961Leu)
|
rs934181908
|
|
|
NM_001267550.2(TTN):c.104888T>C (p.Leu34963Ser)
|
|
|
|
NM_001267550.2(TTN):c.104893G>A (p.Val34965Ile)
|
|
|
|
NM_001267550.2(TTN):c.104904G>C (p.Lys34968Asn)
|
rs1274496471
|
|
|
NM_001267550.2(TTN):c.104906C>G (p.Pro34969Arg)
|
rs2154133728
|
|
|
NM_001267550.2(TTN):c.104922A>C (p.Lys34974Asn)
|
|
|
|
NM_001267550.2(TTN):c.104923T>C (p.Trp34975Arg)
|
|
|
|
NM_001267550.2(TTN):c.104929_104931del (p.His34977del)
|
rs1689167981
|
|
|
NM_001267550.2(TTN):c.104932A>G (p.Asn34978Asp)
|
|
|
|
NM_001267550.2(TTN):c.104945T>C (p.Leu34982Pro)
|
|
|
|
NM_001267550.2(TTN):c.104949A>C (p.Gln34983His)
|
|
|
|
NM_001267550.2(TTN):c.104954G>A (p.Ser34985Asn)
|
rs1689156700
|
|
|
NM_001267550.2(TTN):c.104966A>G (p.His34989Arg)
|
|
|
|
NM_001267550.2(TTN):c.104968T>C (p.Tyr34990His)
|
|
|
|
NM_001267550.2(TTN):c.104971A>G (p.Thr34991Ala)
|
rs764200285
|
|
|
NM_001267550.2(TTN):c.104972C>T (p.Thr34991Ile)
|
|
|
|
NM_001267550.2(TTN):c.104986G>A (p.Val34996Ile)
|
|
|
|
NM_001267550.2(TTN):c.104987T>C (p.Val34996Ala)
|
rs2154133672
|
|
|
NM_001267550.2(TTN):c.104993C>T (p.Thr34998Ile)
|
rs397517794
|
|
|
NM_001267550.2(TTN):c.105000A>T (p.Glu35000Asp)
|
rs866303280
|
|
|
NM_001267550.2(TTN):c.105017C>T (p.Thr35006Ile)
|
rs2154133648
|
|
|
NM_001267550.2(TTN):c.10504C>T (p.Gln3502Ter)
|
rs1411783753
|
|
|
NM_001267550.2(TTN):c.105063C>T (p.Gly35021=)
|
|
|
|
NM_001267550.2(TTN):c.105074A>C (p.Asp35025Ala)
|
|
|
|
NM_001267550.2(TTN):c.105077A>G (p.Tyr35026Cys)
|
|
|
|
NM_001267550.2(TTN):c.105088G>A (p.Asp35030Asn)
|
|
|
|
NM_001267550.2(TTN):c.105091G>C (p.Val35031Leu)
|
|
|
|
NM_001267550.2(TTN):c.105103G>T (p.Asp35035Tyr)
|
rs794729567
|
|
|
NM_001267550.2(TTN):c.105113C>T (p.Thr35038Ile)
|
|
|
|
NM_001267550.2(TTN):c.105130A>G (p.Arg35044Gly)
|
|
|
|
NM_001267550.2(TTN):c.105133G>C (p.Asp35045His)
|
|
|
|
NM_001267550.2(TTN):c.105138_105164del (p.Glu35047_Glu35055del)
|
|
|
|
NM_001267550.2(TTN):c.105142G>A (p.Val35048Ile)
|
rs1689087953
|
|
|
NM_001267550.2(TTN):c.105145C>A (p.Pro35049Thr)
|
rs2154133549
|
|
|
NM_001267550.2(TTN):c.105151T>G (p.Ser35051Ala)
|
|
|
|
NM_001267550.2(TTN):c.105152C>T (p.Ser35051Phe)
|
|
|
|
NM_001267550.2(TTN):c.105154G>C (p.Val35052Leu)
|
rs751583336
|
|
|
NM_001267550.2(TTN):c.105166C>G (p.Leu35056Val)
|
|
|
|
NM_001267550.2(TTN):c.105174A>T (p.Arg35058Ser)
|
|
|
|
NM_001267550.2(TTN):c.105180G>T (p.Glu35060Asp)
|
rs56308529
|
|
|
NM_001267550.2(TTN):c.105180_105181delinsCA (p.Glu35060_Ala35061delinsAspThr)
|
rs1689075044
|
|
|
NM_001267550.2(TTN):c.105182C>A (p.Ala35061Glu)
|
rs762136167
|
|
|
NM_001267550.2(TTN):c.105185A>C (p.Tyr35062Ser)
|
rs1689071281
|
|
|
NM_001267550.2(TTN):c.105187G>A (p.Ala35063Thr)
|
rs1558998039
|
|
|
NM_001267550.2(TTN):c.105197C>T (p.Ser35066Leu)
|
rs1346086554
|
|
|
NM_001267550.2(TTN):c.105200T>C (p.Phe35067Ser)
|
|
|
|
NM_001267550.2(TTN):c.105203A>T (p.Lys35068Met)
|
|
|
|
NM_001267550.2(TTN):c.105209C>T (p.Thr35070Ile)
|
|
|
|
NM_001267550.2(TTN):c.105214G>C (p.Glu35072Gln)
|
rs2154133487
|
|
|
NM_001267550.2(TTN):c.105220G>C (p.Glu35074Gln)
|
|
|
|
NM_001267550.2(TTN):c.105224C>T (p.Ala35075Val)
|
|
|
|
NM_001267550.2(TTN):c.105235G>A (p.Val35079Ile)
|
rs751678775
|
|
|
NM_001267550.2(TTN):c.105241G>C (p.Glu35081Gln)
|
|
|
|
NM_001267550.2(TTN):c.10525A>T (p.Lys3509Ter)
|
rs2154336016
|
|
|
NM_001267550.2(TTN):c.105266C>T (p.Thr35089Ile)
|
|
|
|
NM_001267550.2(TTN):c.105275G>A (p.Ser35092Asn)
|
rs1689031111
|
|
|
NM_001267550.2(TTN):c.105286T>A (p.Tyr35096Asn)
|
|
|
|
NM_001267550.2(TTN):c.105291A>T (p.Glu35097Asp)
|
|
|
|
NM_001267550.2(TTN):c.105292C>T (p.His35098Tyr)
|
|
|
|
NM_001267550.2(TTN):c.105295T>A (p.Ser35099Thr)
|
rs1311764657
|
|
|
NM_001267550.2(TTN):c.105304G>A (p.Ala35102Thr)
|
rs794729568
|
|
|
NM_001267550.2(TTN):c.105314A>G (p.Lys35105Arg)
|
rs2154133421
|
|
|
NM_001267550.2(TTN):c.105317G>A (p.Ser35106Asn)
|
rs1575229486
|
|
|
NM_001267550.2(TTN):c.105322G>A (p.Ala35108Thr)
|
rs1689011295
|
|
|
NM_001267550.2(TTN):c.105336_105350dup (p.35109LEEKS[3])
|
rs1558996383
|
|
|
NM_001267550.2(TTN):c.105340C>G (p.Leu35114Val)
|
|
|
|
NM_001267550.2(TTN):c.105341T>G (p.Leu35114Arg)
|
|
|
|
NM_001267550.2(TTN):c.105351A>C (p.Lys35117Asn)
|
rs1689002120
|
|
|
NM_001267550.2(TTN):c.105352T>C (p.Ser35118Pro)
|
rs1689001356
|
|
|
NM_001267550.2(TTN):c.105380T>C (p.Leu35127Ser)
|
|
|
|
NM_001267550.2(TTN):c.105386C>G (p.Ala35129Gly)
|
rs1688988300
|
|
|
NM_001267550.2(TTN):c.105389G>A (p.Arg35130Lys)
|
|
|
|
NM_001267550.2(TTN):c.105394C>G (p.Leu35132Val)
|
|
|
|
NM_001267550.2(TTN):c.105398C>T (p.Thr35133Ile)
|
|
|
|
NM_001267550.2(TTN):c.105406C>G (p.Arg35136Gly)
|
rs372875128
|
|
|
NM_001267550.2(TTN):c.105410C>T (p.Ser35137Phe)
|
|
|
|
NM_001267550.2(TTN):c.105415A>G (p.Thr35139Ala)
|
rs1029303559
|
|
|
NM_001267550.2(TTN):c.105424G>C (p.Glu35142Gln)
|
rs765274398
|
|
|
NM_001267550.2(TTN):c.105434C>A (p.Ser35145Tyr)
|
rs1688961412
|
|
|
NM_001267550.2(TTN):c.105437C>T (p.Ala35146Val)
|
rs2154133306
|
|
|
NM_001267550.2(TTN):c.105439A>G (p.Arg35147Gly)
|
rs2154133304
|
|
|
NM_001267550.2(TTN):c.105497G>A (p.Gly35166Glu)
|
|
|
|
NM_001267550.2(TTN):c.105497G>T (p.Gly35166Val)
|
rs1060500538
|
|
|
NM_001267550.2(TTN):c.105499C>G (p.Gln35167Glu)
|
rs1558994144
|
|
|
NM_001267550.2(TTN):c.105500A>G (p.Gln35167Arg)
|
|
|
|
NM_001267550.2(TTN):c.105506T>C (p.Leu35169Pro)
|
|
|
|
NM_001267550.2(TTN):c.105514_105516del (p.Ser35172del)
|
rs573843615
|
|
|
NM_001267550.2(TTN):c.105515C>A (p.Ser35172Tyr)
|
rs749354699
|
|
|
NM_001267550.2(TTN):c.105515C>T (p.Ser35172Phe)
|
|
|
|
NM_001267550.2(TTN):c.105525C>G (p.His35175Gln)
|
rs1215297501
|
|
|
NM_001267550.2(TTN):c.105526C>A (p.Gln35176Lys)
|
|
|
|
NM_001267550.2(TTN):c.105539C>A (p.Thr35180Lys)
|
rs1575225765
|
|
|
NM_001267550.2(TTN):c.105545A>G (p.Tyr35182Cys)
|
rs878913505
|
|
|
NM_001267550.2(TTN):c.105554C>T (p.Thr35185Ile)
|
rs781567438
|
|
|
NM_001267550.2(TTN):c.105557T>C (p.Phe35186Ser)
|
|
|
|
NM_001267550.2(TTN):c.105577G>T (p.Ala35193Ser)
|
|
|
|
NM_001267550.2(TTN):c.105581C>T (p.Ser35194Phe)
|
|
|
|
NM_001267550.2(TTN):c.105584A>C (p.Asp35195Ala)
|
|
|
|
NM_001267550.2(TTN):c.105592A>G (p.Asn35198Asp)
|
|
|
|
NM_001267550.2(TTN):c.105600C>G (p.Ser35200Arg)
|
rs1553485050
|
|
|
NM_001267550.2(TTN):c.105604G>A (p.Val35202Met)
|
|
|
|
NM_001267550.2(TTN):c.105613_105633del (p.Asn35205_Glu35211del)
|
|
|
|
NM_001267550.2(TTN):c.105616A>G (p.Ser35206Gly)
|
rs2154133150
|
|
|
NM_001267550.2(TTN):c.105629AAG[1] (p.Glu35211del)
|
|
|
|
NM_001267550.2(TTN):c.105634G>A (p.Ala35212Thr)
|
|
|
|
NM_001267550.2(TTN):c.105635C>T (p.Ala35212Val)
|
|
|
|
NM_001267550.2(TTN):c.105637G>A (p.Glu35213Lys)
|
|
|
|
NM_001267550.2(TTN):c.105644C>T (p.Thr35215Ile)
|
|
|
|
NM_001267550.2(TTN):c.105652A>G (p.Ile35218Val)
|
|
|
|
NM_001267550.2(TTN):c.105661G>A (p.Ala35221Thr)
|
|
|
|
NM_001267550.2(TTN):c.105662C>A (p.Ala35221Asp)
|
rs1558992011
|
|
|
NM_001267550.2(TTN):c.105664A>G (p.Arg35222Gly)
|
rs2154133116
|
|
|
NM_001267550.2(TTN):c.105665G>C (p.Arg35222Thr)
|
|
|
|
NM_001267550.2(TTN):c.105670A>T (p.Thr35224Ser)
|
rs1688850382
|
|
|
NM_001267550.2(TTN):c.105689C>T (p.Ser35230Leu)
|
|
|
|
NM_001267550.2(TTN):c.105691C>T (p.Pro35231Ser)
|
|
|
|
NM_001267550.2(TTN):c.105698G>C (p.Arg35233Thr)
|
|
|
|
NM_001267550.2(TTN):c.105706T>C (p.Ser35236Pro)
|
|
|
|
NM_001267550.2(TTN):c.105715C>T (p.Pro35239Ser)
|
|
|
|
NM_001267550.2(TTN):c.105721G>A (p.Val35241Met)
|
|
|
|
NM_001267550.2(TTN):c.105731C>T (p.Pro35244Leu)
|
rs2154133075
|
|
|
NM_001267550.2(TTN):c.105735A>T (p.Glu35245Asp)
|
rs1444816567
|
|
|
NM_001267550.2(TTN):c.105737C>T (p.Ala35246Val)
|
rs370476812
|
|
|
NM_001267550.2(TTN):c.105748C>A (p.Pro35250Thr)
|
|
|
|
NM_001267550.2(TTN):c.105772C>T (p.Pro35258Ser)
|
|
|
|
NM_001267550.2(TTN):c.105778C>T (p.His35260Tyr)
|
|
|
|
NM_001267550.2(TTN):c.105780C>A (p.His35260Gln)
|
rs373486593
|
|
|
NM_001267550.2(TTN):c.105790G>C (p.Val35264Leu)
|
rs770730954
|
|
|
NM_001267550.2(TTN):c.105796C>T (p.Pro35266Ser)
|
|
|
|
NM_001267550.2(TTN):c.105817C>T (p.Pro35273Ser)
|
|
|
|
NM_001267550.2(TTN):c.105818C>A (p.Pro35273Gln)
|
rs1553484561
|
|
|
NM_001267550.2(TTN):c.105821C>T (p.Thr35274Ile)
|
rs2857271
|
|
|
NM_001267550.2(TTN):c.105829G>A (p.Val35277Ile)
|
|
|
|
NM_001267550.2(TTN):c.105829G>T (p.Val35277Phe)
|
|
|
|
NM_001267550.2(TTN):c.105838C>T (p.Leu35280Phe)
|
rs1688767942
|
|
|
NM_001267550.2(TTN):c.105851C>G (p.Ala35284Gly)
|
rs1553484434
|
|
|
NM_001267550.2(TTN):c.105863T>G (p.Ile35288Ser)
|
rs764713884
|
|
|
NM_001267550.2(TTN):c.105865A>G (p.Thr35289Ala)
|
|
|
|
NM_001267550.2(TTN):c.105881C>G (p.Ala35294Gly)
|
rs569210689
|
|
|
NM_001267550.2(TTN):c.105881C>T (p.Ala35294Val)
|
|
|
|
NM_001267550.2(TTN):c.105897G>C (p.Glu35299Asp)
|
rs886055219
|
|
|
NM_001267550.2(TTN):c.105899T>C (p.Ile35300Thr)
|
|
|
|
NM_001267550.2(TTN):c.105904A>G (p.Lys35302Glu)
|
|
|
|
NM_001267550.2(TTN):c.105908T>C (p.Leu35303Pro)
|
|
|
|
NM_001267550.2(TTN):c.105923A>C (p.Glu35308Ala)
|
|
|
|
NM_001267550.2(TTN):c.105928A>C (p.Ser35310Arg)
|
|
|
|
NM_001267550.2(TTN):c.105929G>A (p.Ser35310Asn)
|
rs1553484229
|
|
|
NM_001267550.2(TTN):c.105929G>C (p.Ser35310Thr)
|
rs1553484229
|
|
|
NM_001267550.2(TTN):c.105939G>T (p.Arg35313Ser)
|
rs1688720188
|
|
|
NM_001267550.2(TTN):c.105950T>C (p.Val35317Ala)
|
|
|
|
NM_001267550.2(TTN):c.105952A>T (p.Thr35318Ser)
|
rs1688710616
|
|
|
NM_001267550.2(TTN):c.105953C>A (p.Thr35318Asn)
|
rs1391706140
|
|
|
NM_001267550.2(TTN):c.105953C>G (p.Thr35318Ser)
|
rs1391706140
|
|
|
NM_001267550.2(TTN):c.105959A>T (p.Tyr35320Phe)
|
|
|
|
NM_001267550.2(TTN):c.105980A>G (p.Lys35327Arg)
|
rs1164792965
|
|
|
NM_001267550.2(TTN):c.105991C>A (p.His35331Asn)
|
|
|
|
NM_001267550.2(TTN):c.106006T>G (p.Tyr35336Asp)
|
rs935907208
|
|
|
NM_001267550.2(TTN):c.106018G>A (p.Gly35340Ser)
|
rs373610666
|
|
|
NM_001267550.2(TTN):c.106019G>C (p.Gly35340Ala)
|
|
|
|
NM_001267550.2(TTN):c.106019G>T (p.Gly35340Val)
|
|
|
|
NM_001267550.2(TTN):c.106022C>G (p.Thr35341Ser)
|
|
|
|
NM_001267550.2(TTN):c.106043A>C (p.Asn35348Thr)
|
|
|
|
NM_001267550.2(TTN):c.106045C>A (p.Leu35349Ile)
|
rs1220665174
|
|
|
NM_001267550.2(TTN):c.106046T>C (p.Leu35349Pro)
|
|
|
|
NM_001267550.2(TTN):c.106049C>T (p.Thr35350Ile)
|
rs1688665396
|
|
|
NM_001267550.2(TTN):c.106051G>A (p.Glu35351Lys)
|
|
|
|
NM_001267550.2(TTN):c.106057G>A (p.Asp35353Asn)
|
rs780037060
|
|
|
NM_001267550.2(TTN):c.106057G>C (p.Asp35353His)
|
rs780037060
|
|
|
NM_001267550.2(TTN):c.106066G>A (p.Glu35356Lys)
|
rs886055218
|
|
|
NM_001267550.2(TTN):c.106070A>C (p.Tyr35357Ser)
|
|
|
|
NM_001267550.2(TTN):c.106072G>A (p.Val35358Ile)
|
rs2154132826
|
|
|
NM_001267550.2(TTN):c.106073T>A (p.Val35358Asp)
|
rs1172243981
|
|
|
NM_001267550.2(TTN):c.106075T>C (p.Cys35359Arg)
|
|
|
|
NM_001267550.2(TTN):c.106078G>C (p.Glu35360Gln)
|
|
|
|
NM_001267550.2(TTN):c.106087G>A (p.Gly35363Ser)
|
|
|
|
NM_001267550.2(TTN):c.106091A>G (p.Glu35364Gly)
|
rs1688643496
|
|
|
NM_001267550.2(TTN):c.106092A>C (p.Glu35364Asp)
|
|
|
|
NM_001267550.2(TTN):c.10609T>C (p.Tyr3537His)
|
rs1553969617
|
|
|
NM_001267550.2(TTN):c.106102T>C (p.Ser35368Pro)
|
rs1688636055
|
|
|
NM_001267550.2(TTN):c.106103C>G (p.Ser35368Cys)
|
|
|
|
NM_001267550.2(TTN):c.106108A>G (p.Thr35370Ala)
|
|
|
|
NM_001267550.2(TTN):c.106111A>G (p.Asn35371Asp)
|
|
|
|
NM_001267550.2(TTN):c.106126G>A (p.Gly35376Arg)
|
|
|
|
NM_001267550.2(TTN):c.106127G>T (p.Gly35376Val)
|
|
|
|
NM_001267550.2(TTN):c.106133C>G (p.Ala35378Gly)
|
rs555476312
|
|
|
NM_001267550.2(TTN):c.106133C>T (p.Ala35378Val)
|
rs555476312
|
|
|
NM_001267550.2(TTN):c.106137_106139dup (p.Phe35379_Lys35380insAsn)
|
rs2154132776
|
|
|
NM_001267550.2(TTN):c.106150G>A (p.Glu35384Lys)
|
rs1170470596
|
|
|
NM_001267550.2(TTN):c.106179G>C (p.Lys35393Asn)
|
|
|
|
NM_001267550.2(TTN):c.106184C>T (p.Ser35395Leu)
|
|
|
|
NM_001267550.2(TTN):c.106186G>A (p.Asp35396Asn)
|
|
|
|
NM_001267550.2(TTN):c.106188T>A (p.Asp35396Glu)
|
rs770681247
|
|
|
NM_001267550.2(TTN):c.106199C>G (p.Thr35400Ser)
|
rs906681609
|
|
|
NM_001267550.2(TTN):c.106201G>A (p.Glu35401Lys)
|
rs2154132721
|
|
|
NM_001267550.2(TTN):c.106211T>C (p.Val35404Ala)
|
rs1688584053
|
|
|
NM_001267550.2(TTN):c.106214C>G (p.Thr35405Ser)
|
rs1688580203
|
|
|
NM_001267550.2(TTN):c.106217G>C (p.Arg35406Thr)
|
rs371304729
|
|
|
NM_001267550.2(TTN):c.106219A>G (p.Lys35407Glu)
|
rs1688576388
|
|
|
NM_001267550.2(TTN):c.106223C>A (p.Thr35408Asn)
|
rs1688573613
|
|
|
NM_001267550.2(TTN):c.106229C>G (p.Pro35410Arg)
|
rs1553483445
|
|
|
NM_001267550.2(TTN):c.106234G>C (p.Ala35412Pro)
|
rs766892661
|
|
|
NM_001267550.2(TTN):c.106238C>G (p.Pro35413Arg)
|
rs1688567795
|
|
|
NM_001267550.2(TTN):c.106240G>C (p.Glu35414Gln)
|
rs1558984927
|
|
|
NM_001267550.2(TTN):c.106253C>T (p.Ser35418Leu)
|
|
|
|
NM_001267550.2(TTN):c.106265T>C (p.Ile35422Thr)
|
rs1688557044
|
|
|
NM_001267550.2(TTN):c.106274G>A (p.Gly35425Glu)
|
rs1204851576
|
|
|
NM_001267550.2(TTN):c.106285A>T (p.Thr35429Ser)
|
|
|
|
NM_001267550.2(TTN):c.106289C>A (p.Thr35430Asn)
|
|
|
|
NM_001267550.2(TTN):c.106302C>G (p.Asp35434Glu)
|
|
|
|
NM_001267550.2(TTN):c.106325A>G (p.Lys35442Arg)
|
rs1688520726
|
|
|
NM_001267550.2(TTN):c.106327G>A (p.Ala35443Thr)
|
|
|
|
NM_001267550.2(TTN):c.106330A>G (p.Thr35444Ala)
|
rs1688516881
|
|
|
NM_001267550.2(TTN):c.106330A>T (p.Thr35444Ser)
|
rs1688516881
|
|
|
NM_001267550.2(TTN):c.106349C>T (p.Thr35450Ile)
|
rs371022420
|
|
|
NM_001267550.2(TTN):c.106365A>C (p.Lys35455Asn)
|
|
|
|
NM_001267550.2(TTN):c.106375-3C>T
|
rs1688412007
|
|
|
NM_001267550.2(TTN):c.106378A>G (p.Ile35460Val)
|
rs1688408023
|
|
|
NM_001267550.2(TTN):c.106397A>G (p.Tyr35466Cys)
|
|
|
|
NM_001267550.2(TTN):c.106402C>G (p.Leu35468Val)
|
|
|
|
NM_001267550.2(TTN):c.106415A>C (p.Lys35472Thr)
|
rs1688385311
|
|
|
NM_001267550.2(TTN):c.106418G>A (p.Gly35473Glu)
|
rs1688381864
|
|
|
NM_001267550.2(TTN):c.106439A>C (p.His35480Pro)
|
|
|
|
NM_001267550.2(TTN):c.106444A>T (p.Thr35482Ser)
|
rs1423470146
|
|
|
NM_001267550.2(TTN):c.106451C>A (p.Thr35484Asn)
|
rs754163825
|
|
|
NM_001267550.2(TTN):c.106461T>A (p.Ser35487Arg)
|
rs886039020
|
|
|
NM_001267550.2(TTN):c.106472C>A (p.Thr35491Asn)
|
rs1461069852
|
|
|
NM_001267550.2(TTN):c.106472C>T (p.Thr35491Ile)
|
|
|
|
NM_001267550.2(TTN):c.106486A>C (p.Asn35496His)
|
rs1688351717
|
|
|
NM_001267550.2(TTN):c.106487A>C (p.Asn35496Thr)
|
rs2154132393
|
|
|
NM_001267550.2(TTN):c.106488T>A (p.Asn35496Lys)
|
|
|
|
NM_001267550.2(TTN):c.106492G>C (p.Ala35498Pro)
|
rs878879036
|
|
|
NM_001267550.2(TTN):c.106495G>A (p.Gly35499Arg)
|
rs779794234
|
|
|
NM_001267550.2(TTN):c.106496G>A (p.Gly35499Glu)
|
|
|
|
NM_001267550.2(TTN):c.106511G>T (p.Ser35504Ile)
|
|
|
|
NM_001267550.2(TTN):c.106514G>A (p.Cys35505Tyr)
|
rs2154132356
|
|
|
NM_001267550.2(TTN):c.106525A>G (p.Ile35509Val)
|
rs1553482514
|
|
|
NM_001267550.2(TTN):c.106526T>C (p.Ile35509Thr)
|
rs1447572736
|
|
|
NM_001267550.2(TTN):c.106531+5G>T
|
|
|
|
NM_001267550.2(TTN):c.106531G>A (p.Ala35511Thr)
|
rs768786354
|
|
|
NM_001267550.2(TTN):c.106546G>A (p.Glu35516Lys)
|
|
|
|
NM_001267550.2(TTN):c.106558G>A (p.Val35520Ile)
|
|
|
|
NM_001267550.2(TTN):c.106565C>A (p.Thr35522Lys)
|
|
|
|
NM_001267550.2(TTN):c.106567C>A (p.Gln35523Lys)
|
rs1019567796
|
|
|
NM_001267550.2(TTN):c.106573A>G (p.Thr35525Ala)
|
rs1575198568
|
|
|
NM_001267550.2(TTN):c.106575_106576insGTAATTTCT (p.Thr35525_Ser35526insValIleSer)
|
rs768256269
|
|
|
NM_001267550.2(TTN):c.10657A>G (p.Thr3553Ala)
|
rs1553969472
|
|
|
NM_001267550.2(TTN):c.106588C>A (p.Pro35530Thr)
|
|
|
|
NM_001267550.2(TTN):c.106592A>G (p.Gln35531Arg)
|
rs1687861665
|
|
|
NM_001267550.2(TTN):c.106600G>A (p.Ala35534Thr)
|
|
|
|
NM_001267550.2(TTN):c.106601C>T (p.Ala35534Val)
|
rs878854284
|
|
|
NM_001267550.2(TTN):c.106602TGT[1] (p.Val35536del)
|
|
|
|
NM_001267550.2(TTN):c.106603G>A (p.Val35535Ile)
|
rs1553481274
|
|
|
NM_001267550.2(TTN):c.106607T>C (p.Val35536Ala)
|
|
|
|
NM_001267550.2(TTN):c.106610A>G (p.Gln35537Arg)
|
|
|
|
NM_001267550.2(TTN):c.106612G>C (p.Glu35538Gln)
|
rs968812751
|
|
|
NM_001267550.2(TTN):c.106648A>G (p.Ile35550Val)
|
rs1558973830
|
|
|
NM_001267550.2(TTN):c.106654A>T (p.Met35552Leu)
|
|
|
|
NM_001267550.2(TTN):c.106655T>G (p.Met35552Arg)
|
rs2154131569
|
|
|
NM_001267550.2(TTN):c.106660G>C (p.Glu35554Gln)
|
rs1165517840
|
|
|
NM_001267550.2(TTN):c.106661A>G (p.Glu35554Gly)
|
|
|
|
NM_001267550.2(TTN):c.106670C>T (p.Ser35557Phe)
|
rs760531226
|
|
|
NM_001267550.2(TTN):c.106679A>T (p.Lys35560Met)
|
|
|
|
NM_001267550.2(TTN):c.106708G>A (p.Val35570Ile)
|
|
|
|
NM_001267550.2(TTN):c.106712T>C (p.Leu35571Pro)
|
|
|
|
NM_001267550.2(TTN):c.106723G>A (p.Glu35575Lys)
|
rs886055217
|
|
|
NM_001267550.2(TTN):c.106723G>C (p.Glu35575Gln)
|
|
|
|
NM_001267550.2(TTN):c.106724A>C (p.Glu35575Ala)
|
|
|
|
NM_001267550.2(TTN):c.106727T>G (p.Val35576Gly)
|
rs144188176
|
|
|
NM_001267550.2(TTN):c.106735T>G (p.Ser35579Ala)
|
|
|
|
NM_001267550.2(TTN):c.106765G>A (p.Val35589Ile)
|
rs745560169
|
|
|
NM_001267550.2(TTN):c.106766T>C (p.Val35589Ala)
|
|
|
|
NM_001267550.2(TTN):c.106770T>G (p.His35590Gln)
|
rs1052651705
|
|
|
NM_001267550.2(TTN):c.106771G>C (p.Glu35591Gln)
|
rs935554305
|
|
|
NM_001267550.2(TTN):c.106774G>A (p.Glu35592Lys)
|
|
|
|
NM_001267550.2(TTN):c.106783A>G (p.Lys35595Glu)
|
|
|
|
NM_001267550.2(TTN):c.106792C>G (p.Gln35598Glu)
|
rs767339203
|
|
|
NM_001267550.2(TTN):c.106801G>A (p.Glu35601Lys)
|
rs1558972236
|
|
|
NM_001267550.2(TTN):c.106835T>C (p.Phe35612Ser)
|
|
|
|
NM_001267550.2(TTN):c.106841C>G (p.Thr35614Ser)
|
rs2154131436
|
|
|
NM_001267550.2(TTN):c.106852A>G (p.Ile35618Val)
|
rs2154131431
|
|
|
NM_001267550.2(TTN):c.106854A>G (p.Ile35618Met)
|
|
|
|
NM_001267550.2(TTN):c.106857C>A (p.Asn35619Lys)
|
rs116604145
|
|
|
NM_001267550.2(TTN):c.106889T>C (p.Ile35630Thr)
|
|
|
|
NM_001267550.2(TTN):c.106894G>A (p.Gly35632Ser)
|
|
|
|
NM_001267550.2(TTN):c.106894G>C (p.Gly35632Arg)
|
|
|
|
NM_001267550.2(TTN):c.106895G>T (p.Gly35632Val)
|
rs1210557316
|
|
|
NM_001267550.2(TTN):c.106903G>A (p.Asp35635Asn)
|
|
|
|
NM_001267550.2(TTN):c.106910A>G (p.Lys35637Arg)
|
|
|
|
NM_001267550.2(TTN):c.106911A>T (p.Lys35637Asn)
|
rs767045071
|
|
|
NM_001267550.2(TTN):c.106912T>C (p.Trp35638Arg)
|
rs1408667252
|
|
|
NM_001267550.2(TTN):c.106915G>A (p.Val35639Ile)
|
rs557752216
|
|
|
NM_001267550.2(TTN):c.106915G>C (p.Val35639Leu)
|
|
|
|
NM_001267550.2(TTN):c.106919T>C (p.Leu35640Pro)
|
rs750550267
|
|
|
NM_001267550.2(TTN):c.106928T>C (p.Val35643Ala)
|
|
|
|
NM_001267550.2(TTN):c.106930G>C (p.Glu35644Gln)
|
|
|
|
NM_001267550.2(TTN):c.106940A>C (p.Asn35647Thr)
|
|
|
|
NM_001267550.2(TTN):c.106948G>A (p.Glu35650Lys)
|
|
|
|
NM_001267550.2(TTN):c.106957T>G (p.Tyr35653Asp)
|
rs886042500
|
|
|
NM_001267550.2(TTN):c.106969G>A (p.Gly35657Ser)
|
rs2154131322
|
|
|
NM_001267550.2(TTN):c.106974C>A (p.Ser35658Arg)
|
|
|
|
NM_001267550.2(TTN):c.106984C>A (p.Leu35662Ile)
|
rs2154131306
|
|
|
NM_001267550.2(TTN):c.106990A>G (p.Ile35664Val)
|
rs781108499
|
|
|
NM_001267550.2(TTN):c.106991T>G (p.Ile35664Ser)
|
rs1060500501
|
|
|
NM_001267550.2(TTN):c.106996C>A (p.Gln35666Lys)
|
|
|
|
NM_001267550.2(TTN):c.1069del (p.Ala357fs)
|
rs2154356210
|
|
|
NM_001267550.2(TTN):c.107002A>C (p.Ser35668Arg)
|
|
|
|
NM_001267550.2(TTN):c.107003G>A (p.Ser35668Asn)
|
rs1687674300
|
|
|
NM_001267550.2(TTN):c.107009G>A (p.Arg35670Lys)
|
rs534961012
|
|
|
NM_001267550.2(TTN):c.107023C>T (p.Leu35675Phe)
|
|
|
|
NM_001267550.2(TTN):c.107027C>T (p.Thr35676Ile)
|
|
|
|
NM_001267550.2(TTN):c.107046G>C (p.Lys35682Asn)
|
|
|
|
NM_001267550.2(TTN):c.107059A>C (p.Lys35687Gln)
|
rs2154131240
|
|
|
NM_001267550.2(TTN):c.107066A>G (p.Gln35689Arg)
|
rs1451601178
|
|
|
NM_001267550.2(TTN):c.107093T>A (p.Leu35698His)
|
|
|
|
NM_001267550.2(TTN):c.107098G>A (p.Asp35700Asn)
|
rs1575190768
|
|
|
NM_001267550.2(TTN):c.107099A>G (p.Asp35700Gly)
|
rs1060500391
|
|
|
NM_001267550.2(TTN):c.107101G>A (p.Ala35701Thr)
|
|
|
|
NM_001267550.2(TTN):c.107123C>T (p.Pro35708Leu)
|
rs71423567
|
|
|
NM_001267550.2(TTN):c.107125A>G (p.Arg35709Gly)
|
|
|
|
NM_001267550.2(TTN):c.107126G>T (p.Arg35709Ile)
|
|
|
|
NM_001267550.2(TTN):c.107143G>A (p.Glu35715Lys)
|
|
|
|
NM_001267550.2(TTN):c.107158C>A (p.Leu35720Ile)
|
|
|
|
NM_001267550.2(TTN):c.107173A>G (p.Ile35725Val)
|
rs1687594887
|
|
|
NM_001267550.2(TTN):c.107181C>T (p.Gly35727=)
|
rs762859509
|
|
|
NM_001267550.2(TTN):c.107191C>T (p.Pro35731Ser)
|
rs1687589442
|
|
|
NM_001267550.2(TTN):c.107199C>G (p.Ile35733Met)
|
rs776237176
|
|
|
NM_001267550.2(TTN):c.107209A>C (p.Lys35737Gln)
|
rs1687580805
|
|
|
NM_001267550.2(TTN):c.107217C>A (p.Asn35739Lys)
|
|
|
|
NM_001267550.2(TTN):c.107221C>G (p.Pro35741Ala)
|
rs1455118621
|
|
|
NM_001267550.2(TTN):c.107223+3A>C
|
rs2154131091
|
|
|
NM_001267550.2(TTN):c.107223A>G (p.Pro35741=)
|
|
|
|
NM_001267550.2(TTN):c.107225T>C (p.Ile35742Thr)
|
rs1553479315
|
|
|
NM_001267550.2(TTN):c.107234C>A (p.Ser35745Tyr)
|
rs2154130964
|
|
|
NM_001267550.2(TTN):c.107239A>T (p.Asn35747Tyr)
|
|
|
|
NM_001267550.2(TTN):c.107248A>G (p.Ile35750Val)
|
|
|
|
NM_001267550.2(TTN):c.107261G>A (p.Arg35754Lys)
|
|
|
|
NM_001267550.2(TTN):c.107269T>C (p.Tyr35757His)
|
rs2154130935
|
|
|
NM_001267550.2(TTN):c.107284C>A (p.Arg35762=)
|
rs1477669354
|
|
|
NM_001267550.2(TTN):c.107288A>C (p.Asn35763Thr)
|
rs1687455146
|
|
|
NM_001267550.2(TTN):c.107290G>T (p.Ala35764Ser)
|
rs879048717
|
|
|
NM_001267550.2(TTN):c.107292A>G (p.Ala35764=)
|
rs1553479171
|
|
|
NM_001267550.2(TTN):c.107305A>C (p.Ser35769Arg)
|
|
|
|
NM_001267550.2(TTN):c.107314T>C (p.Tyr35772His)
|
|
|
|
NM_001267550.2(TTN):c.107318C>A (p.Thr35773Lys)
|
|
|
|
NM_001267550.2(TTN):c.107321T>C (p.Ile35774Thr)
|
rs2154130889
|
|
|
NM_001267550.2(TTN):c.107337C>G (p.Phe35779Leu)
|
rs1687437542
|
|
|
NM_001267550.2(TTN):c.107342G>C (p.Gly35781Ala)
|
|
|
|
NM_001267550.2(TTN):c.107346G>C (p.Gln35782His)
|
|
|
|
NM_001267550.2(TTN):c.107348G>T (p.Cys35783Phe)
|
rs1473450556
|
|
|
NM_001267550.2(TTN):c.107353G>T (p.Ala35785Ser)
|
|
|
|
NM_001267550.2(TTN):c.107370G>C (p.Met35790Ile)
|
|
|
|
NM_001267550.2(TTN):c.107372T>C (p.Val35791Ala)
|
|
|
|
NM_001267550.2(TTN):c.107377+3A>G
|
|
|
|
NM_001267550.2(TTN):c.107377C>T (p.Pro35793Ser)
|
rs1337678636
|
|
|
NM_001267550.2(TTN):c.107378-3C>G
|
rs762133725
|
|
|
NM_001267550.2(TTN):c.107387A>C (p.Glu35796Ala)
|
rs1553478042
|
|
|
NM_001267550.2(TTN):c.107391A>C (p.Glu35797Asp)
|
|
|
|
NM_001267550.2(TTN):c.107392C>A (p.Pro35798Thr)
|
rs780544430
|
|
|
NM_001267550.2(TTN):c.107393C>A (p.Pro35798His)
|
|
|
|
NM_001267550.2(TTN):c.107395T>C (p.Ser35799Pro)
|
|
|
|
NM_001267550.2(TTN):c.107405T>C (p.Val35802Ala)
|
|
|
|
NM_001267550.2(TTN):c.107411T>C (p.Leu35804Ser)
|
rs2154130341
|
|
|
NM_001267550.2(TTN):c.107422G>A (p.Gly35808Ser)
|
rs2154130329
|
|
|
NM_001267550.2(TTN):c.107429C>T (p.Thr35810Ile)
|
|
|
|
NM_001267550.2(TTN):c.107436G>T (p.Leu35812Phe)
|
|
|
|
NM_001267550.2(TTN):c.107446T>A (p.Phe35816Ile)
|
|
|
|
NM_001267550.2(TTN):c.107456A>G (p.Gln35819Arg)
|
|
|
|
NM_001267550.2(TTN):c.107468T>C (p.Met35823Thr)
|
|
|
|
NM_001267550.2(TTN):c.107469G>A (p.Met35823Ile)
|
|
|
|
NM_001267550.2(TTN):c.107470T>C (p.Ser35824Pro)
|
|
|
|
NM_001267550.2(TTN):c.107481G>C (p.Lys35827Asn)
|
rs1255811280
|
|
|
NM_001267550.2(TTN):c.107487G>C (p.Glu35829Asp)
|
rs2154130286
|
|
|
NM_001267550.2(TTN):c.107498_107499delinsAA (p.Ser35833Lys)
|
rs1687011687
|
|
|
NM_001267550.2(TTN):c.107504T>G (p.Phe35835Cys)
|
rs1687009141
|
|
|
NM_001267550.2(TTN):c.107506A>C (p.Ser35836Arg)
|
rs1687008231
|
|
|
NM_001267550.2(TTN):c.107509A>T (p.Ser35837Cys)
|
rs1232738337
|
|
|
NM_001267550.2(TTN):c.107510G>A (p.Ser35837Asn)
|
rs2154130270
|
|
|
NM_001267550.2(TTN):c.107512A>G (p.Ser35838Gly)
|
rs1575176926
|
|
|
NM_001267550.2(TTN):c.107516G>A (p.Ser35839Asn)
|
|
|
|
NM_001267550.2(TTN):c.107524A>G (p.Ser35842Gly)
|
|
|
|
NM_001267550.2(TTN):c.107529G>A (p.Met35843Ile)
|
|
|
|
NM_001267550.2(TTN):c.107540A>G (p.Lys35847Arg)
|
rs1575176578
|
|
|
NM_001267550.2(TTN):c.107552T>A (p.Met35851Lys)
|
|
|
|
NM_001267550.2(TTN):c.107557G>A (p.Ala35853Thr)
|
rs1553477669
|
|
|
NM_001267550.2(TTN):c.107564G>T (p.Ser35855Ile)
|
rs1053387515
|
|
|
NM_001267550.2(TTN):c.107565C>G (p.Ser35855Arg)
|
rs1469711405
|
|
|
NM_001267550.2(TTN):c.107577G>A (p.Met35859Ile)
|
rs772602914
|
|
|
NM_001267550.2(TTN):c.107578_107583del (p.Gln35860_Glu35861del)
|
rs751689670
|
|
|
NM_001267550.2(TTN):c.107590G>C (p.Val35864Leu)
|
rs746430344
|
|
|
NM_001267550.2(TTN):c.107595A>C (p.Glu35865Asp)
|
rs1686972976
|
|
|
NM_001267550.2(TTN):c.107614A>G (p.Met35872Val)
|
|
|
|
NM_001267550.2(TTN):c.107623T>C (p.Ser35875Pro)
|
|
|
|
NM_001267550.2(TTN):c.107631G>A (p.Met35877Ile)
|
rs1686957619
|
|
|
NM_001267550.2(TTN):c.107632A>G (p.Thr35878Ala)
|
|
|
|
NM_001267550.2(TTN):c.107633C>T (p.Thr35878Ile)
|
rs1686956801
|
|
|
NM_001267550.2(TTN):c.107642A>G (p.Glu35881Gly)
|
rs1686954050
|
|
|
NM_001267550.2(TTN):c.107645G>T (p.Ser35882Ile)
|
|
|
|
NM_001267550.2(TTN):c.107653A>G (p.Ser35885Gly)
|
|
|
|
NM_001267550.2(TTN):c.107674A>C (p.Ile35892Leu)
|
|
|
|
NM_001267550.2(TTN):c.107680+4A>C
|
|
|
|
NM_001267550.2(TTN):c.107681-3A>C
|
|
|
|
NM_001267550.2(TTN):c.107684T>C (p.Ile35895Thr)
|
rs2154130013
|
|
|
NM_001267550.2(TTN):c.107687C>T (p.Pro35896Leu)
|
rs767565621
|
|
|
NM_001267550.2(TTN):c.107690C>G (p.Pro35897Arg)
|
rs1558956138
|
|
|
NM_001267550.2(TTN):c.107690C>T (p.Pro35897Leu)
|
rs1558956138
|
|
|
NM_001267550.2(TTN):c.107701_107844del (p.Ala35901_Glu35948del)
|
rs1686739585
|
|
|
NM_001267550.2(TTN):c.107702C>T (p.Ala35901Val)
|
|
|
|
NM_001267550.2(TTN):c.107707C>T (p.Pro35903Ser)
|
|
|
|
NM_001267550.2(TTN):c.10770G>C (p.Glu3590Asp)
|
rs377401997
|
|
|
NM_001267550.2(TTN):c.107714A>G (p.Asp35905Gly)
|
rs1558955826
|
|
|
NM_001267550.2(TTN):c.107716A>G (p.Ile35906Val)
|
rs1558955770
|
|
|
NM_001267550.2(TTN):c.107717T>C (p.Ile35906Thr)
|
rs1686809478
|
|
|
NM_001267550.2(TTN):c.107726A>G (p.Asp35909Gly)
|
rs1686804657
|
|
|
NM_001267550.2(TTN):c.107741T>C (p.Leu35914Pro)
|
|
|
|
NM_001267550.2(TTN):c.107743A>C (p.Thr35915Pro)
|
|
|
|
NM_001267550.2(TTN):c.107746G>C (p.Val35916Leu)
|
rs1686792927
|
|
|
NM_001267550.2(TTN):c.107747T>C (p.Val35916Ala)
|
rs2154129959
|
|
|
NM_001267550.2(TTN):c.107762C>A (p.Thr35921Lys)
|
rs749277200
|
|
|
NM_001267550.2(TTN):c.107768A>C (p.Glu35923Ala)
|
rs2154129939
|
|
|
NM_001267550.2(TTN):c.107770C>G (p.Pro35924Ala)
|
|
|
|
NM_001267550.2(TTN):c.107774C>A (p.Thr35925Asn)
|
rs755111765
|
|
|
NM_001267550.2(TTN):c.107777C>T (p.Pro35926Leu)
|
|
|
|
NM_001267550.2(TTN):c.107782G>T (p.Val35928Leu)
|
|
|
|
NM_001267550.2(TTN):c.107786C>A (p.Thr35929Lys)
|
|
|
|
NM_001267550.2(TTN):c.107788T>C (p.Trp35930Arg)
|
rs1018591024
|
|
|
NM_001267550.2(TTN):c.107797G>C (p.Gly35933Arg)
|
rs1575170417
|
|
|
NM_001267550.2(TTN):c.107800G>A (p.Gly35934Arg)
|
rs368277535
|
|
|
NM_001267550.2(TTN):c.107811C>G (p.Ile35937Met)
|
|
|
|
NM_001267550.2(TTN):c.107817T>G (p.Ser35939Arg)
|
|
|
|
NM_001267550.2(TTN):c.107821G>C (p.Glu35941Gln)
|
|
|
|
NM_001267550.2(TTN):c.107833T>A (p.Phe35945Ile)
|
rs1575169924
|
|
|
NM_001267550.2(TTN):c.107835C>G (p.Phe35945Leu)
|
rs2154129860
|
|
|
NM_001267550.2(TTN):c.107836C>T (p.His35946Tyr)
|
rs1686745897
|
|
|
NM_001267550.2(TTN):c.107839A>G (p.Ile35947Val)
|
rs1553476576
|
|
|
NM_001267550.2(TTN):c.107840T>C (p.Ile35947Thr)
|
rs281864928
|
|
|
NM_001267550.2(TTN):c.107840T>G (p.Ile35947Ser)
|
rs281864928
|
|
|
NM_001267550.2(TTN):c.107842_107844dup (p.Glu35948dup)
|
rs2154129846
|
|
|
NM_001267550.2(TTN):c.107844A>C (p.Glu35948Asp)
|
|
|
|
NM_001267550.2(TTN):c.107851G>T (p.Asp35951Tyr)
|
rs2154129841
|
|
|
NM_001267550.2(TTN):c.107861_107869del (p.Thr35954_Leu35956del)
|
|
|
|
NM_001267550.2(TTN):c.107864C>T (p.Thr35955Ile)
|
rs370267738
|
|
|
NM_001267550.2(TTN):c.107870T>C (p.Ile35957Thr)
|
|
|
|
NM_001267550.2(TTN):c.107871C>G (p.Ile35957Met)
|
|
|
|
NM_001267550.2(TTN):c.107875A>G (p.Met35959Val)
|
rs1220326083
|
|
|
NM_001267550.2(TTN):c.107881G>A (p.Val35961Ile)
|
rs780886524
|
|
|
NM_001267550.2(TTN):c.107903T>C (p.Leu35968Pro)
|
rs1686710377
|
|
|
NM_001267550.2(TTN):c.107903T>G (p.Leu35968Arg)
|
rs1686710377
|
|
|
NM_001267550.2(TTN):c.107909C>T (p.Thr35970Ile)
|
rs765869850
|
|
|
NM_001267550.2(TTN):c.107911_107912del (p.Leu35971fs)
|
rs2154129791
|
|
|
NM_001267550.2(TTN):c.107912T>A (p.Leu35971Gln)
|
rs1686706196
|
|
|
NM_001267550.2(TTN):c.107926G>T (p.Glu35976Ter)
|
rs1259397789
|
|
|
NM_001267550.2(TTN):c.107933G>A (p.Gly35978Glu)
|
rs2154129775
|
|
|
NM_001267550.2(TTN):c.107947A>C (p.Thr35983Pro)
|
|
|
|
NM_001267550.2(TTN):c.107960A>G (p.His35987Arg)
|
|
|
|
NM_001267550.2(TTN):c.107965C>T (p.Arg35989Ter)
|
rs770506970
|
|
|
NM_001267550.2(TTN):c.10799C>A (p.Ser3600Ter)
|
rs374300381
|
|
|
NM_001267550.2(TTN):c.10825G>T (p.Glu3609Ter)
|
|
|
|
NM_001267550.2(TTN):c.10834G>C (p.Val3612Leu)
|
rs1352067592
|
|
|
NM_001267550.2(TTN):c.10C>T (p.Gln4Ter)
|
|
|
|
NM_001267550.2(TTN):c.11191del (p.Ser3731fs)
|
|
|
|
NM_001267550.2(TTN):c.11209G>A (p.Asp3737Asn)
|
rs1243794346
|
|
|
NM_001267550.2(TTN):c.11252_11253delinsAA (p.Gly3751Glu)
|
rs1553967105
|
|
|
NM_001267550.2(TTN):c.11288_11289del (p.Gln3763fs)
|
rs1574322133
|
|
|
NM_001267550.2(TTN):c.1128G>A (p.Trp376Ter)
|
rs932770906
|
|
|
NM_001267550.2(TTN):c.11310del (p.Glu3771fs)
|
rs2086020099
|
|
|
NM_001267550.2(TTN):c.11311+1G>T
|
rs1553963537
|
|
|
NM_001267550.2(TTN):c.11324C>T (p.Ser3775Phe)
|
rs892763465
|
|
|
NM_001267550.2(TTN):c.11412del (p.Pro3805fs)
|
rs2082534727
|
|
|
NM_001267550.2(TTN):c.11421_11422delinsGT (p.Tyr3807_Pro3808delinsTer)
|
|
|
|
NM_001267550.2(TTN):c.11444del (p.Lys3815fs)
|
rs1574099951
|
|
|
NM_001267550.2(TTN):c.11495del (p.Ser3832fs)
|
|
|
|
NM_001267550.2(TTN):c.11497_11515del (p.Met3833fs)
|
rs2154319069
|
|
|
NM_001267550.2(TTN):c.11637del (p.Leu3880fs)
|
rs1560926034
|
|
|
NM_001267550.2(TTN):c.11754del (p.Asp3918fs)
|
rs2154318864
|
|
|
NM_001267550.2(TTN):c.11825A>C (p.Lys3942Thr)
|
rs1060500569
|
|
|
NM_001267550.2(TTN):c.11831T>A (p.Leu3944Ter)
|
|
|
|
NM_001267550.2(TTN):c.11843G>T (p.Arg3948Leu)
|
rs775618077
|
|
|
NM_001267550.2(TTN):c.1185C>A (p.Ala395=)
|
rs372346898
|
|
|
NM_001267550.2(TTN):c.1186G>A (p.Ala396Thr)
|
rs200052202
|
|
|
NM_001267550.2(TTN):c.11871dup (p.Glu3958Ter)
|
rs2082452692
|
|
|
NM_001267550.2(TTN):c.11881G>A (p.Val3961Met)
|
rs1017307763
|
|
|
NM_001267550.2(TTN):c.118T>C (p.Phe40Leu)
|
rs1554045595
|
|
|
NM_001267550.2(TTN):c.11903C>T (p.Thr3968Ile)
|
rs1416083040
|
|
|
NM_001267550.2(TTN):c.11912G>A (p.Trp3971Ter)
|
rs869312102
|
|
|
NM_001267550.2(TTN):c.11913G>A (p.Trp3971Ter)
|
rs749961489
|
|
|
NM_001267550.2(TTN):c.12066T>G (p.Cys4022Trp)
|
rs931245340
|
|
|
NM_001267550.2(TTN):c.1206del (p.Ser403fs)
|
|
|
|
NM_001267550.2(TTN):c.12113C>G (p.Thr4038Ser)
|
rs758968807
|
|
|
NM_001267550.2(TTN):c.12117del (p.Cys4040fs)
|
rs1560918374
|
|
|
NM_001267550.2(TTN):c.12208G>T (p.Glu4070Ter)
|
rs397517830
|
|
|
NM_001267550.2(TTN):c.12239del (p.Ile4079_Leu4080insTer)
|
rs2082383767
|
|
|
NM_001267550.2(TTN):c.12251T>G (p.Leu4084Ter)
|
|
|
|
NM_001267550.2(TTN):c.12259G>T (p.Glu4087Ter)
|
rs2154318496
|
|
|
NM_001267550.2(TTN):c.12289del (p.Ile4097fs)
|
|
|
|
NM_001267550.2(TTN):c.12316C>T (p.Gln4106Ter)
|
rs1553940122
|
|
|
NM_001267550.2(TTN):c.12345del (p.Gln4115fs)
|
|
|
|
NM_001267550.2(TTN):c.12358C>T (p.Gln4120Ter)
|
rs746184552
|
|
|
NM_001267550.2(TTN):c.12397_12505dup (p.Pro4169fs)
|
rs1553939638
|
|
|
NM_001267550.2(TTN):c.12405del (p.Asn4135fs)
|
rs727503658
|
|
|
NM_001267550.2(TTN):c.12451C>T (p.Gln4151Ter)
|
|
|
|
NM_001267550.2(TTN):c.1246-2A>G
|
rs2154355995
|
|
|
NM_001267550.2(TTN):c.12472C>T (p.Gln4158Ter)
|
rs745720217
|
|
|
NM_001267550.2(TTN):c.12478del (p.Thr4160fs)
|
rs2154318358
|
|
|
NM_001267550.2(TTN):c.12482del (p.Phe4161fs)
|
|
|
|
NM_001267550.2(TTN):c.12519_12520del (p.Glu4173fs)
|
rs1553939605
|
|
|
NM_001267550.2(TTN):c.1252C>T (p.Gln418Ter)
|
|
|
|
NM_001267550.2(TTN):c.12583_12586del (p.Asn4195fs)
|
rs2082328931
|
|
|
NM_001267550.2(TTN):c.12612_12625del (p.Thr4204_Leu4205insTer)
|
rs1574081963
|
|
|
NM_001267550.2(TTN):c.12643_12644del (p.Gln4215fs)
|
rs869312038
|
|
|
NM_001267550.2(TTN):c.12679A>T (p.Thr4227Ser)
|
rs1553939161
|
|
|
NM_001267550.2(TTN):c.12680C>A (p.Thr4227Asn)
|
rs777055785
|
|
|
NM_001267550.2(TTN):c.12704C>A (p.Ser4235Ter)
|
rs1253161767
|
|
|
NM_001267550.2(TTN):c.12742C>T (p.Gln4248Ter)
|
rs794729308
|
|
|
NM_001267550.2(TTN):c.12744_12745del (p.Arg4249fs)
|
rs2154318180
|
|
|
NM_001267550.2(TTN):c.12754_12755del (p.Leu4252fs)
|
|
|
|
NM_001267550.2(TTN):c.12766G>A (p.Glu4256Lys)
|
rs1560908997
|
|
|
NM_001267550.2(TTN):c.12817G>A (p.Glu4273Lys)
|
rs1553938808
|
|
|
NM_001267550.2(TTN):c.12823C>T (p.Leu4275Phe)
|
rs773905874
|
|
|
NM_001267550.2(TTN):c.12869del (p.Leu4290fs)
|
|
|
|
NM_001267550.2(TTN):c.12891C>A (p.Cys4297Ter)
|
|
|
|
NM_001267550.2(TTN):c.12895G>C (p.Glu4299Gln)
|
rs1430420761
|
|
|
NM_001267550.2(TTN):c.12897dup (p.Gly4300fs)
|
rs2082273335
|
|
|
NM_001267550.2(TTN):c.12937A>G (p.Asn4313Asp)
|
rs1553938408
|
|
|
NM_001267550.2(TTN):c.12943_12950dup (p.Asp4317fs)
|
|
|
|
NM_001267550.2(TTN):c.1296del (p.Val433fs)
|
rs2093669726
|
|
|
NM_001267550.2(TTN):c.12972del (p.Gly4325fs)
|
rs2082260794
|
|
|
NM_001267550.2(TTN):c.13072G>T (p.Glu4358Ter)
|
rs757979946
|
|
|
NM_001267550.2(TTN):c.13075T>C (p.Ser4359Pro)
|
rs1060500434
|
|
|
NM_001267550.2(TTN):c.13083del (p.Glu4362fs)
|
rs2154317986
|
|
|
NM_001267550.2(TTN):c.13102_13105del (p.Lys4368fs)
|
rs1553937967
|
|
|
NM_001267550.2(TTN):c.13115_13118dup (p.Gln4373fs)
|
|
|
|
NM_001267550.2(TTN):c.13127dup (p.Asp4376fs)
|
rs2082227467
|
|
|
NM_001267550.2(TTN):c.13144dup (p.Ser4382fs)
|
rs1560902834
|
|
|
NM_001267550.2(TTN):c.13157del (p.Gly4386fs)
|
|
|
|
NM_001267550.2(TTN):c.1318G>A (p.Glu440Lys)
|
rs747410439
|
|
|
NM_001267550.2(TTN):c.13201del (p.Arg4401fs)
|
|
|
|
NM_001267550.2(TTN):c.13265T>G (p.Ile4422Ser)
|
rs727503656
|
|
|
NM_001267550.2(TTN):c.13329C>G (p.Tyr4443Ter)
|
|
|
|
NM_001267550.2(TTN):c.13335del (p.Thr4446fs)
|
|
|
|
NM_001267550.2(TTN):c.13340C>A (p.Ser4447Ter)
|
|
|
|
NM_001267550.2(TTN):c.13382_13383del (p.Asp4461fs)
|
|
|
|
NM_001267550.2(TTN):c.13397del (p.Met4466fs)
|
|
|
|
NM_001267550.2(TTN):c.13408A>T (p.Lys4470Ter)
|
rs903809826
|
|
|
NM_001267550.2(TTN):c.13435G>A (p.Ala4479Thr)
|
rs776871094
|
|
|
NM_001267550.2(TTN):c.13446T>A (p.Tyr4482Ter)
|
|
|
|
NM_001267550.2(TTN):c.13446T>G (p.Tyr4482Ter)
|
|
|
|
NM_001267550.2(TTN):c.13459A>G (p.Ile4487Val)
|
rs1553937057
|
|
|
NM_001267550.2(TTN):c.13487A>G (p.Gln4496Arg)
|
rs878854287
|
|
|
NM_001267550.2(TTN):c.13525del (p.Ser4509fs)
|
rs1553936898
|
|
|
NM_001267550.2(TTN):c.13540C>T (p.Gln4514Ter)
|
|
|
|
NM_001267550.2(TTN):c.13621C>T (p.Gln4541Ter)
|
rs2154317658
|
|
|
NM_001267550.2(TTN):c.13701T>G (p.Asp4567Glu)
|
rs200422152
|
|
|
NM_001267550.2(TTN):c.13720G>T (p.Glu4574Ter)
|
rs2154317609
|
|
|
NM_001267550.2(TTN):c.13729G>T (p.Glu4577Ter)
|
|
|
|
NM_001267550.2(TTN):c.13759_13772delinsTTCTTTGTTATTTTTAAACCAAGTAACCTGGATCACAGGTGAGCCTTTCAGCTTGCAATGGAGGCGTGCTGATTCACCTGGGAGCATTAAATAAGAGGGATCCACCTTCTTCACGAAGGATGGTGGCTCTACATGAAGTTTACAAA (p.Glu4587_Val4591delinsPhePheValIlePheLysProSerAsnLeuAspHisArgTer)
|
|
|
|
NM_001267550.2(TTN):c.13760del (p.Glu4587fs)
|
rs1266489077
|
|
|
NM_001267550.2(TTN):c.1381C>T (p.Gln461Ter)
|
|
|
|
NM_001267550.2(TTN):c.13821G>T (p.Met4607Ile)
|
rs1553936266
|
|
|
NM_001267550.2(TTN):c.13838_13839del (p.Val4613fs)
|
rs2154317516
|
|
|
NM_001267550.2(TTN):c.13900G>T (p.Glu4634Ter)
|
rs869312103
|
|
|
NM_001267550.2(TTN):c.13911G>A (p.Trp4637Ter)
|
|
|
|
NM_001267550.2(TTN):c.13914T>A (p.Tyr4638Ter)
|
rs794729388
|
|
|
NM_001267550.2(TTN):c.13934C>A (p.Pro4645His)
|
rs1553936055
|
|
|
NM_001267550.2(TTN):c.13945A>G (p.Lys4649Glu)
|
rs1060500392
|
|
|
NM_001267550.2(TTN):c.13966C>T (p.Gln4656Ter)
|
rs747289468
|
|
|
NM_001267550.2(TTN):c.1398+320_1624del
|
|
|
|
NM_001267550.2(TTN):c.14014C>A (p.Gln4672Lys)
|
rs1553935908
|
|
|
NM_001267550.2(TTN):c.14092+1G>A
|
|
|
|
NM_001267550.2(TTN):c.14118C>G (p.Ile4706Met)
|
rs267599072
|
|
|
NM_001267550.2(TTN):c.14171A>G (p.Gln4724Arg)
|
rs1553934896
|
|
|
NM_001267550.2(TTN):c.1417A>T (p.Lys473Ter)
|
rs2154355442
|
|
|
NM_001267550.2(TTN):c.14188C>A (p.Arg4730=)
|
rs749719834
|
|
|
NM_001267550.2(TTN):c.14212C>T (p.Arg4738Ter)
|
|
|
|
NM_001267550.2(TTN):c.14287del (p.Gln4763fs)
|
rs1560880125
|
|
|
NM_001267550.2(TTN):c.14320G>A (p.Ala4774Thr)
|
rs1404878972
|
|
|
NM_001267550.2(TTN):c.14337_14341dup (p.Val4781fs)
|
rs2154316604
|
|
|
NM_001267550.2(TTN):c.14367_14368insT (p.Thr4790fs)
|
|
|
|
NM_001267550.2(TTN):c.14371+3A>G
|
rs2154316576
|
|
|
NM_001267550.2(TTN):c.14371G>A (p.Glu4791Lys)
|
|
|
|
NM_001267550.2(TTN):c.14452dup (p.Val4818fs)
|
rs2154314529
|
|
|
NM_001267550.2(TTN):c.14476del (p.Thr4826fs)
|
rs1220176907
|
|
|
NM_001267550.2(TTN):c.14484G>A (p.Trp4828Ter)
|
|
|
|
NM_001267550.2(TTN):c.14510C>G (p.Pro4837Arg)
|
|
|
|
NM_001267550.2(TTN):c.14513_14517del (p.Pro4837_Ser4838insTer)
|
rs2154314476
|
|
|
NM_001267550.2(TTN):c.14676del (p.Glu4893fs)
|
|
|
|
NM_001267550.2(TTN):c.14709G>C (p.Lys4903Asn)
|
rs1060500444
|
|
|
NM_001267550.2(TTN):c.1470del (p.Glu490fs)
|
rs2093617332
|
|
|
NM_001267550.2(TTN):c.14710A>T (p.Lys4904Ter)
|
rs1560853002
|
|
|
NM_001267550.2(TTN):c.14713G>T (p.Val4905Phe)
|
rs774495507
|
|
|
NM_001267550.2(TTN):c.14753C>T (p.Thr4918Ile)
|
rs749179515
|
|
|
NM_001267550.2(TTN):c.14788C>G (p.Pro4930Ala)
|
rs201744218
|
|
|
NM_001267550.2(TTN):c.15007T>A (p.Cys5003Ser)
|
rs1553930348
|
|
|
NM_001267550.2(TTN):c.15177C>A (p.Asp5059Glu)
|
rs74607159
|
|
|
NM_001267550.2(TTN):c.15181G>T (p.Gly5061Cys)
|
rs1441268700
|
|
|
NM_001267550.2(TTN):c.15218-2A>G
|
rs1004898711
|
|
|
NM_001267550.2(TTN):c.15224C>T (p.Pro5075Leu)
|
rs1553929816
|
|
|
NM_001267550.2(TTN):c.15263G>A (p.Arg5088Lys)
|
rs766300782
|
|
|
NM_001267550.2(TTN):c.15277C>G (p.Leu5093Val)
|
rs764663290
|
|
|
NM_001267550.2(TTN):c.15324G>A (p.Trp5108Ter)
|
rs755339616
|
|
|
NM_001267550.2(TTN):c.1536+1G>A
|
rs2093614668
|
|
|
NM_001267550.2(TTN):c.1536+1G>T
|
|
|
|
NM_001267550.2(TTN):c.1536+3G>A
|
rs1414333301
|
|
|
NM_001267550.2(TTN):c.1537-1G>C
|
|
|
|
NM_001267550.2(TTN):c.1545_1549del (p.Lys515fs)
|
|
|
|
NM_001267550.2(TTN):c.15464A>C (p.Lys5155Thr)
|
rs727504207
|
|
|
NM_001267550.2(TTN):c.15475A>G (p.Met5159Val)
|
rs1553929310
|
|
|
NM_001267550.2(TTN):c.15496+4A>G
|
|
|
|
NM_001267550.2(TTN):c.15496+5G>C
|
|
|
|
NM_001267550.2(TTN):c.15496G>T (p.Glu5166Ter)
|
|
|
|
NM_001267550.2(TTN):c.15497-2A>G
|
rs1232334931
|
|
|
NM_001267550.2(TTN):c.1551_1552del (p.Glu518fs)
|
rs2154354703
|
|
|
NM_001267550.2(TTN):c.15527del (p.Asp5176fs)
|
|
|
|
NM_001267550.2(TTN):c.15576del (p.Ser5194fs)
|
rs1578202642
|
|
|
NM_001267550.2(TTN):c.15605T>C (p.Met5202Thr)
|
rs764755768
|
|
|
NM_001267550.2(TTN):c.15615_15622del (p.Gln5205fs)
|
|
|
|
NM_001267550.2(TTN):c.15775+1G>A
|
rs1353528319
|
|
|
NM_001267550.2(TTN):c.15952del (p.Leu5318fs)
|
rs778392667
|
|
|
NM_001267550.2(TTN):c.16023C>A (p.Ser5341Arg)
|
rs1553927522
|
|
|
NM_001267550.2(TTN):c.16048del (p.Val5350fs)
|
|
|
|
NM_001267550.2(TTN):c.16057C>T (p.Arg5353Ter)
|
rs267599069
|
|
|
NM_001267550.2(TTN):c.16077del (p.Phe5359fs)
|
rs2080842093
|
|
|
NM_001267550.2(TTN):c.16093A>C (p.Asn5365His)
|
rs878854288
|
|
|
NM_001267550.2(TTN):c.16133G>A (p.Cys5378Tyr)
|
rs754271006
|
|
|
NM_001267550.2(TTN):c.16138A>G (p.Ile5380Val)
|
rs1280725528
|
|
|
NM_001267550.2(TTN):c.1621_1622insCATTGCTTGTTTTTCTCAGGTTTGTCAAAGATCAGATAGTTGTAGATATGCGGCATTATTTCTGAGGGCTCTGTTCTGTTCCATTGATCTATATCTCTGTTTTNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAACTAGAATTTCTG (p.Glu541delinsAlaLeuLeuValPheLeuArgPheValLysAspGlnIleValValAspMetArgHisTyrPheTer)
|
rs2093537697
|
|
|
NM_001267550.2(TTN):c.16244_16248delinsCTGTCT (p.Glu5415fs)
|
rs2080810704
|
|
|
NM_001267550.2(TTN):c.16342+5G>C
|
rs950440116
|
|
|
NM_001267550.2(TTN):c.16356del (p.Phe5452fs)
|
|
|
|
NM_001267550.2(TTN):c.16446A>G (p.Arg5482=)
|
rs1426268579
|
|
|
NM_001267550.2(TTN):c.16489T>A (p.Tyr5497Asn)
|
rs1279249843
|
|
|
NM_001267550.2(TTN):c.16508T>A (p.Leu5503Ter)
|
rs2154310403
|
|
|
NM_001267550.2(TTN):c.1662+2T>G
|
rs2154354670
|
|
|
NM_001267550.2(TTN):c.1662+5G>A
|
rs1021479898
|
|
|
NM_001267550.2(TTN):c.16693T>C (p.Cys5565Arg)
|
rs1228967454
|
|
|
NM_001267550.2(TTN):c.16713del (p.Pro5572fs)
|
|
|
|
NM_001267550.2(TTN):c.16834G>A (p.Gly5612Ser)
|
rs1060500588
|
|
|
NM_001267550.2(TTN):c.16848_16849del (p.Cys5616_Glu5617delinsTer)
|
rs2154309910
|
|
|
NM_001267550.2(TTN):c.16903+2T>C
|
rs1060500574
|
|
|
NM_001267550.2(TTN):c.16907C>T (p.Ser5636Leu)
|
rs1553925181
|
|
|
NM_001267550.2(TTN):c.17032_17033del (p.Arg5678fs)
|
|
|
|
NM_001267550.2(TTN):c.17182+1G>A
|
|
|
|
NM_001267550.2(TTN):c.17201AGA[1] (p.Lys5735del)
|
rs1060500441
|
|
|
NM_001267550.2(TTN):c.17213G>A (p.Ser5738Asn)
|
rs1060500502
|
|
|
NM_001267550.2(TTN):c.17281del (p.Thr5760_Val5761insTer)
|
rs1392541002
|
|
|
NM_001267550.2(TTN):c.17357G>T (p.Ser5786Ile)
|
rs1553924253
|
|
|
NM_001267550.2(TTN):c.17423C>T (p.Ala5808Val)
|
rs1409068952
|
|
|
NM_001267550.2(TTN):c.17461+1G>A
|
|
|
|
NM_001267550.2(TTN):c.17461+1G>C
|
rs747990127
|
|
|
NM_001267550.2(TTN):c.17461+5G>C
|
|
|
|
NM_001267550.2(TTN):c.17482G>T (p.Glu5828Ter)
|
|
|
|
NM_001267550.2(TTN):c.1759_1763del (p.Thr587fs)
|
rs1024367270
|
|
|
NM_001267550.2(TTN):c.17612_17613insAAAAATATAAAAT (p.Ile5871_Ser5872insLysIleTer)
|
|
|
|
NM_001267550.2(TTN):c.1771C>G (p.Gln591Glu)
|
rs747286444
|
|
|
NM_001267550.2(TTN):c.17741-1G>A
|
rs2154308493
|
|
|
NM_001267550.2(TTN):c.17773C>A (p.Leu5925Met)
|
rs750909367
|
|
|
NM_001267550.2(TTN):c.17823del (p.Ile5941fs)
|
rs2154308403
|
|
|
NM_001267550.2(TTN):c.17875A>G (p.Ile5959Val)
|
rs1060500508
|
|
|
NM_001267550.2(TTN):c.17992G>A (p.Gly5998Arg)
|
rs757934638
|
|
|
NM_001267550.2(TTN):c.1801-2A>G
|
|
|
|
NM_001267550.2(TTN):c.18028+1G>A
|
rs1560786548
|
|
|
NM_001267550.2(TTN):c.18028+2T>C
|
rs1553922787
|
|
|
NM_001267550.2(TTN):c.18028+6C>A
|
|
|
|
NM_001267550.2(TTN):c.18307+2T>C
|
rs2154307882
|
|
|
NM_001267550.2(TTN):c.18317A>G (p.Gln6106Arg)
|
rs1553921829
|
|
|
NM_001267550.2(TTN):c.18371C>A (p.Thr6124Lys)
|
rs1280788914
|
|
|
NM_001267550.2(TTN):c.18406C>T (p.Arg6136Ter)
|
rs2154307591
|
|
|
NM_001267550.2(TTN):c.18411_18412insSVAelement
|
|
|
|
NM_001267550.2(TTN):c.18677C>A (p.Pro6226His)
|
rs746345160
|
|
|
NM_001267550.2(TTN):c.18709_18710del (p.Arg6237fs)
|
|
|
|
NM_001267550.2(TTN):c.18736A>G (p.Thr6246Ala)
|
rs1553920950
|
|
|
NM_001267550.2(TTN):c.18791C>G (p.Ser6264Ter)
|
rs2079975361
|
|
|
NM_001267550.2(TTN):c.18887A>G (p.Lys6296Arg)
|
rs1553920476
|
|
|
NM_001267550.2(TTN):c.18950G>T (p.Gly6317Val)
|
rs1060500522
|
|
|
NM_001267550.2(TTN):c.19180del (p.Val6394fs)
|
rs1560763939
|
|
|
NM_001267550.2(TTN):c.19229del (p.Gly6410fs)
|
rs2079812566
|
|
|
NM_001267550.2(TTN):c.19237G>T (p.Glu6413Ter)
|
|
|
|
NM_001267550.2(TTN):c.19254G>A (p.Trp6418Ter)
|
rs2154306627
|
|
|
NM_001267550.2(TTN):c.19306G>T (p.Glu6436Ter)
|
rs267599063
|
|
|
NM_001267550.2(TTN):c.19365del (p.Gln6454_Tyr6455insTer)
|
|
|
|
NM_001267550.2(TTN):c.1938+1G>T
|
rs774414270
|
|
|
NM_001267550.2(TTN):c.19426+2T>A
|
rs727505178
|
|
|
NM_001267550.2(TTN):c.19458dup (p.Leu6487fs)
|
rs2079736561
|
|
|
NM_001267550.2(TTN):c.19581C>A (p.Tyr6527Ter)
|
rs746828415
|
|
|
NM_001267550.2(TTN):c.19601_19602del (p.Arg6534fs)
|
rs1064796380
|
|
|
NM_001267550.2(TTN):c.19605del (p.Val6536fs)
|
rs2079698337
|
|
|
NM_001267550.2(TTN):c.1961del (p.Thr654fs)
|
rs2154353364
|
|
|
NM_001267550.2(TTN):c.1964C>A (p.Ala655Asp)
|
rs763912778
|
|
|
NM_001267550.2(TTN):c.19714+1G>T
|
rs1060500423
|
|
|
NM_001267550.2(TTN):c.19744C>T (p.Arg6582Ter)
|
rs794727829
|
|
|
NM_001267550.2(TTN):c.19877G>A (p.Gly6626Glu)
|
rs1362220931
|
|
|
NM_001267550.2(TTN):c.19992A>G (p.Thr6664=)
|
rs1560749476
|
|
|
NM_001267550.2(TTN):c.19993+5G>A
|
rs907914759
|
|
|
NM_001267550.2(TTN):c.19994-7T>G
|
rs1292778822
|
|
|
NM_001267550.2(TTN):c.20008del (p.Phe6669_Val6670insTer)
|
|
|
|
NM_001267550.2(TTN):c.20035G>A (p.Val6679Met)
|
rs1553917765
|
|
|
NM_001267550.2(TTN):c.20185A>G (p.Asn6729Asp)
|
rs794729619
|
|
|
NM_001267550.2(TTN):c.20276-1G>C
|
rs2154304651
|
|
|
NM_001267550.2(TTN):c.20276-5del
|
rs779654489
|
|
|
NM_001267550.2(TTN):c.20324del (p.Asn6775fs)
|
rs1578084690
|
|
|
NM_001267550.2(TTN):c.20402_20405del (p.Leu6801fs)
|
|
|
|
NM_001267550.2(TTN):c.20438del (p.Asn6813fs)
|
rs2154304574
|
|
|
NM_001267550.2(TTN):c.20441_20448del (p.Asn6813_Phe6814insTer)
|
rs2154304568
|
|
|
NM_001267550.2(TTN):c.20455C>T (p.His6819Tyr)
|
rs1553916130
|
|
|
NM_001267550.2(TTN):c.20484C>G (p.Ile6828Met)
|
rs563320328
|
|
|
NM_001267550.2(TTN):c.20622del (p.Ala6875fs)
|
rs2079200580
|
|
|
NM_001267550.2(TTN):c.20626T>A (p.Ser6876Thr)
|
rs1359024577
|
|
|
NM_001267550.2(TTN):c.20667del (p.Glu6890fs)
|
|
|
|
NM_001267550.2(TTN):c.20707A>G (p.Ile6903Val)
|
rs571675433
|
|
|
NM_001267550.2(TTN):c.20719del (p.Glu6907fs)
|
|
|
|
NM_001267550.2(TTN):c.20738del (p.Gln6913fs)
|
rs2154304293
|
|
|
NM_001267550.2(TTN):c.2073A>T (p.Gly691=)
|
rs72647860
|
|
|
NM_001267550.2(TTN):c.2076G>A (p.Lys692=)
|
rs1333188525
|
|
|
NM_001267550.2(TTN):c.20836+2T>C
|
rs776932740
|
|
|
NM_001267550.2(TTN):c.20837-1G>A
|
rs1553914337
|
|
|
NM_001267550.2(TTN):c.2083G>T (p.Val695Phe)
|
rs747479318
|
|
|
NM_001267550.2(TTN):c.2086G>T (p.Gly696Ter)
|
|
|
|
NM_001267550.2(TTN):c.2093del (p.Lys698fs)
|
rs2154351778
|
|
|
NM_001267550.2(TTN):c.209del (p.Val70fs)
|
rs2094105154
|
|
|
NM_001267550.2(TTN):c.21006del (p.Ser7003fs)
|
|
|
|
NM_001267550.2(TTN):c.21014T>G (p.Leu7005Ter)
|
|
|
|
NM_001267550.2(TTN):c.21114A>C (p.Ser7038=)
|
rs879237670
|
|
|
NM_001267550.2(TTN):c.21220del (p.Ser7074fs)
|
rs2078907250
|
|
|
NM_001267550.2(TTN):c.21291T>A (p.Asn7097Lys)
|
rs773211607
|
|
|
NM_001267550.2(TTN):c.21378A>C (p.Glu7126Asp)
|
rs786205315
|
|
|
NM_001267550.2(TTN):c.2137C>T (p.Arg713Ter)
|
rs727505277
|
|
|
NM_001267550.2(TTN):c.21403+2T>G
|
|
|
|
NM_001267550.2(TTN):c.21403+5G>A
|
rs1560709207
|
|
|
NM_001267550.2(TTN):c.21403G>A (p.Glu7135Lys)
|
rs779787316
|
|
|
NM_001267550.2(TTN):c.21404-1G>C
|
|
|
|
NM_001267550.2(TTN):c.21404-3_21404-1delinsA
|
rs2078833835
|
|
|
NM_001267550.2(TTN):c.21488C>A (p.Thr7163Asn)
|
rs370324138
|
|
|
NM_001267550.2(TTN):c.21507del (p.Trp7170fs)
|
rs1578046154
|
|
|
NM_001267550.2(TTN):c.2162G>C (p.Gly721Ala)
|
rs1554022851
|
|
|
NM_001267550.2(TTN):c.21641A>G (p.Asn7214Ser)
|
rs755600935
|
|
|
NM_001267550.2(TTN):c.21683-2A>G
|
|
|
|
NM_001267550.2(TTN):c.21705A>T (p.Arg7235Ser)
|
rs772506057
|
|
|
NM_001267550.2(TTN):c.21788G>A (p.Trp7263Ter)
|
|
|
|
NM_001267550.2(TTN):c.21799G>A (p.Gly7267Ser)
|
rs772450876
|
|
|
NM_001267550.2(TTN):c.21833_21834del (p.Ile7278fs)
|
rs2154302656
|
|
|
NM_001267550.2(TTN):c.21907G>C (p.Glu7303Gln)
|
rs774950387
|
|
|
NM_001267550.2(TTN):c.21912del (p.Ile7304fs)
|
rs2078700148
|
|
|
NM_001267550.2(TTN):c.21914A>C (p.Glu7305Ala)
|
rs1553911785
|
|
|
NM_001267550.2(TTN):c.21961+1G>C
|
rs2078690809
|
|
|
NM_001267550.2(TTN):c.21964C>T (p.Pro7322Ser)
|
rs1553911632
|
|
|
NM_001267550.2(TTN):c.22024T>G (p.Leu7342Val)
|
rs1243764269
|
|
|
NM_001267550.2(TTN):c.22027C>T (p.Gln7343Ter)
|
rs886043434
|
|
|
NM_001267550.2(TTN):c.22034_22037del (p.Gln7345fs)
|
|
|
|
NM_001267550.2(TTN):c.22039G>A (p.Ala7347Thr)
|
rs1553911494
|
|
|
NM_001267550.2(TTN):c.22145_22146del (p.Val7381_Phe7382insTer)
|
rs794727888
|
|
|
NM_001267550.2(TTN):c.22240+1G>A
|
rs2078612090
|
|
|
NM_001267550.2(TTN):c.22273_22276del (p.Leu7425fs)
|
rs1553910811
|
|
|
NM_001267550.2(TTN):c.2228C>T (p.Ala743Val)
|
rs267607157
|
|
|
NM_001267550.2(TTN):c.22293_22303del (p.Val7432fs)
|
rs1560692247
|
|
|
NM_001267550.2(TTN):c.22309dup (p.Thr7437fs)
|
rs2154302053
|
|
|
NM_001267550.2(TTN):c.22321C>T (p.Arg7441Ter)
|
|
|
|
NM_001267550.2(TTN):c.22343T>C (p.Ile7448Thr)
|
rs878854293
|
|
|
NM_001267550.2(TTN):c.22356G>A (p.Trp7452Ter)
|
rs2078556781
|
|
|
NM_001267550.2(TTN):c.22384_22385delinsCG (p.Asp7462Arg)
|
rs1060500493
|
|
|
NM_001267550.2(TTN):c.22427T>A (p.Leu7476Ter)
|
|
|
|
NM_001267550.2(TTN):c.22528+4del
|
rs1578022549
|
|
|
NM_001267550.2(TTN):c.22528G>T (p.Glu7510Ter)
|
|
|
|
NM_001267550.2(TTN):c.22693T>C (p.Cys7565Arg)
|
rs757611239
|
|
|
NM_001267550.2(TTN):c.22724_22725dup (p.Lys7576fs)
|
rs2154301477
|
|
|
NM_001267550.2(TTN):c.22725_22726insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCCGTCTTCTGCGTCGCTCACGTTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGGCCATCTTGGCTCCTCCCCCCGAGAATTCTT (p.Lys7576delinsPhePhePhePhePhePheXaaXaaXaaXaaProSerSerAlaSerLeuThrLeuGlyAlaValAspArgSerCysSerTyrSerAlaIleLeuAlaProProProGluAsnSerTer)
|
rs2154301480
|
|
|
NM_001267550.2(TTN):c.22789_22790del (p.Met7597fs)
|
rs1211248610
|
|
|
NM_001267550.2(TTN):c.22888T>C (p.Cys7630Arg)
|
rs1553908536
|
|
|
NM_001267550.2(TTN):c.22907del (p.Pro7636fs)
|
rs2078291953
|
|
|
NM_001267550.2(TTN):c.23000C>G (p.Thr7667Arg)
|
rs374430623
|
|
|
NM_001267550.2(TTN):c.23068G>T (p.Ala7690Ser)
|
rs763029699
|
|
|
NM_001267550.2(TTN):c.23098+1G>T
|
rs2154300949
|
|
|
NM_001267550.2(TTN):c.23098+3del
|
rs2154300948
|
|
|
NM_001267550.2(TTN):c.23204G>A (p.Trp7735Ter)
|
|
|
|
NM_001267550.2(TTN):c.2320G>A (p.Glu774Lys)
|
rs1554022511
|
|
|
NM_001267550.2(TTN):c.23273dup (p.Ser7758fs)
|
rs2154300674
|
|
|
NM_001267550.2(TTN):c.23305G>A (p.Val7769Ile)
|
rs1553907172
|
|
|
NM_001267550.2(TTN):c.23369dup (p.Phe7791fs)
|
|
|
|
NM_001267550.2(TTN):c.23373C>A (p.Phe7791Leu)
|
rs1553907020
|
|
|
NM_001267550.2(TTN):c.23377+2T>C
|
rs2154300619
|
|
|
NM_001267550.2(TTN):c.23399dup (p.Leu7801fs)
|
|
|
|
NM_001267550.2(TTN):c.2341G>T (p.Asp781Tyr)
|
rs1554022470
|
|
|
NM_001267550.2(TTN):c.23443C>T (p.Arg7815Trp)
|
rs528264100
|
|
|
NM_001267550.2(TTN):c.23467C>A (p.Pro7823Thr)
|
rs768540966
|
|
|
NM_001267550.2(TTN):c.23608dup (p.Ile7870fs)
|
rs2154300414
|
|
|
NM_001267550.2(TTN):c.23660-13CTT[2]
|
rs563250569
|
|
|
NM_001267550.2(TTN):c.23694G>A (p.Met7898Ile)
|
rs751897366
|
|
|
NM_001267550.2(TTN):c.2370+5G>A
|
|
|
|
NM_001267550.2(TTN):c.2370+5G>C
|
rs1554022409
|
|
|
NM_001267550.2(TTN):c.2370G>A (p.Gln790=)
|
|
|
|
NM_001267550.2(TTN):c.2371-2A>G
|
|
|
|
NM_001267550.2(TTN):c.23729G>T (p.Cys7910Phe)
|
rs763596594
|
|
|
NM_001267550.2(TTN):c.23797A>G (p.Ser7933Gly)
|
rs1553905723
|
|
|
NM_001267550.2(TTN):c.23811del (p.Thr7938fs)
|
|
|
|
NM_001267550.2(TTN):c.23817C>G (p.Phe7939Leu)
|
rs866647945
|
|
|
NM_001267550.2(TTN):c.23939-1G>T
|
|
|
|
NM_001267550.2(TTN):c.2393_2394del (p.Thr798fs)
|
rs1060500528
|
|
|
NM_001267550.2(TTN):c.23947G>A (p.Val7983Met)
|
rs1060500564
|
|
|
NM_001267550.2(TTN):c.2396C>T (p.Thr799Met)
|
rs149061352
|
|
|
NM_001267550.2(TTN):c.23996G>C (p.Gly7999Ala)
|
rs750389762
|
|
|
NM_001267550.2(TTN):c.24019C>T (p.Arg8007Ter)
|
rs794727941
|
|
|
NM_001267550.2(TTN):c.24037C>A (p.Pro8013Thr)
|
rs1553904936
|
|
|
NM_001267550.2(TTN):c.24075del (p.Ile8025fs)
|
rs2154300014
|
|
|
NM_001267550.2(TTN):c.24137T>C (p.Leu8046Ser)
|
rs1553904761
|
|
|
NM_001267550.2(TTN):c.24226+5G>T
|
rs2077956888
|
|
|
NM_001267550.2(TTN):c.24226G>A (p.Glu8076Lys)
|
|
|
|
NM_001267550.2(TTN):c.24227-2A>G
|
|
|
|
NM_001267550.2(TTN):c.24244C>T (p.Gln8082Ter)
|
|
|
|
NM_001267550.2(TTN):c.24253G>A (p.Asp8085Asn)
|
rs1553904192
|
|
|
NM_001267550.2(TTN):c.2435C>T (p.Ala812Val)
|
rs372040052
|
|
|
NM_001267550.2(TTN):c.24385G>T (p.Glu8129Ter)
|
rs727504843
|
|
|
NM_001267550.2(TTN):c.24447_24450del (p.Cys8150fs)
|
rs2077885583
|
|
|
NM_001267550.2(TTN):c.24697del (p.Ser8233fs)
|
|
|
|
NM_001267550.2(TTN):c.24708_24710del (p.Glu8236del)
|
rs771555243
|
|
|
NM_001267550.2(TTN):c.24784+3G>A
|
rs2154299473
|
|
|
NM_001267550.2(TTN):c.24811G>T (p.Glu8271Ter)
|
|
|
|
NM_001267550.2(TTN):c.24865G>T (p.Gly8289Ter)
|
rs1577954678
|
|
|
NM_001267550.2(TTN):c.24890G>A (p.Trp8297Ter)
|
rs2154299355
|
|
|
NM_001267550.2(TTN):c.24891G>T (p.Trp8297Cys)
|
rs727504205
|
|
|
NM_001267550.2(TTN):c.24946_24947delinsT (p.Asn8316fs)
|
rs1577952992
|
|
|
NM_001267550.2(TTN):c.24962T>C (p.Leu8321Ser)
|
rs1577952583
|
|
|
NM_001267550.2(TTN):c.24972C>A (p.Asn8324Lys)
|
rs879030954
|
|
|
NM_001267550.2(TTN):c.25006T>C (p.Cys8336Arg)
|
rs2154299294
|
|
|
NM_001267550.2(TTN):c.2502A>G (p.Ile834Met)
|
rs752214647
|
|
|
NM_001267550.2(TTN):c.25037C>T (p.Ala8346Val)
|
rs747055472
|
|
|
NM_001267550.2(TTN):c.25063+1G>A
|
rs754247415
|
|
|
NM_001267550.2(TTN):c.25063+5T>A
|
rs1553902318
|
|
|
NM_001267550.2(TTN):c.25064-1G>A
|
|
|
|
NM_001267550.2(TTN):c.25064-2A>G
|
|
|
|
NM_001267550.2(TTN):c.2506G>T (p.Gly836Cys)
|
rs751157908
|
|
|
NM_001267550.2(TTN):c.25105G>A (p.Val8369Ile)
|
rs755722481
|
|
|
NM_001267550.2(TTN):c.25117_25118del (p.Leu8373fs)
|
rs2077711392
|
|
|
NM_001267550.2(TTN):c.25154G>C (p.Gly8385Ala)
|
rs775560531
|
|
|
NM_001267550.2(TTN):c.25249C>T (p.Leu8417Phe)
|
rs774234445
|
|
|
NM_001267550.2(TTN):c.25270C>G (p.Gln8424Glu)
|
rs370668637
|
|
|
NM_001267550.2(TTN):c.25351+4A>G
|
|
|
|
NM_001267550.2(TTN):c.25351+5G>A
|
|
|
|
NM_001267550.2(TTN):c.25476T>A (p.Asp8492Glu)
|
rs777349143
|
|
|
NM_001267550.2(TTN):c.25480C>T (p.Arg8494Ter)
|
rs794727945
|
|
|
NM_001267550.2(TTN):c.2557C>T (p.Gln853Ter)
|
|
|
|
NM_001267550.2(TTN):c.25600G>T (p.Ala8534Ser)
|
rs779163897
|
|
|
NM_001267550.2(TTN):c.25639+2T>C
|
rs769452066
|
|
|
NM_001267550.2(TTN):c.25639G>C (p.Glu8547Gln)
|
rs1060500447
|
|
|
NM_001267550.2(TTN):c.25662_25663delinsTT (p.Lys8554Asn)
|
rs1553898915
|
|
|
NM_001267550.2(TTN):c.25707_25708inv (p.Glu8570Lys)
|
|
|
|
NM_001267550.2(TTN):c.25739_25740del (p.Lys8580fs)
|
|
|
|
NM_001267550.2(TTN):c.2575del (p.Ser858_Val859insTer)
|
|
|
|
NM_001267550.2(TTN):c.25765G>T (p.Glu8589Ter)
|
|
|
|
NM_001267550.2(TTN):c.25921G>A (p.Glu8641Lys)
|
rs1553898323
|
|
|
NM_001267550.2(TTN):c.25922-1G>C
|
rs2154297723
|
|
|
NM_001267550.2(TTN):c.25937G>T (p.Arg8646Leu)
|
rs144587343
|
|
|
NM_001267550.2(TTN):c.25971A>T (p.Gly8657=)
|
rs1060500547
|
|
|
NM_001267550.2(TTN):c.2601dup (p.Glu868Ter)
|
|
|
|
NM_001267550.2(TTN):c.26028G>A (p.Trp8676Ter)
|
rs794729389
|
|
|
NM_001267550.2(TTN):c.26028del (p.Trp8676fs)
|
rs758533436
|
|
|
NM_001267550.2(TTN):c.26068A>C (p.Lys8690Gln)
|
rs1060500411
|
|
|
NM_001267550.2(TTN):c.26081A>C (p.Glu8694Ala)
|
rs1553897407
|
|
|
NM_001267550.2(TTN):c.26093C>G (p.Thr8698Ser)
|
rs1060500461
|
|
|
NM_001267550.2(TTN):c.26118_26119del (p.Ala8707fs)
|
rs2077273106
|
|
|
NM_001267550.2(TTN):c.26144G>T (p.Cys8715Phe)
|
rs183499397
|
|
|
NM_001267550.2(TTN):c.26170G>A (p.Asp8724Asn)
|
rs756034176
|
|
|
NM_001267550.2(TTN):c.26189T>A (p.Ile8730Asn)
|
rs1060500488
|
|
|
NM_001267550.2(TTN):c.26240del (p.Thr8747fs)
|
rs1553896398
|
|
|
NM_001267550.2(TTN):c.26261A>T (p.Gln8754Leu)
|
rs1060500568
|
|
|
NM_001267550.2(TTN):c.26287G>T (p.Glu8763Ter)
|
rs2077159790
|
|
|
NM_001267550.2(TTN):c.2628del (p.Leu878fs)
|
|
|
|
NM_001267550.2(TTN):c.2640_2656del (p.Gln880fs)
|
|
|
|
NM_001267550.2(TTN):c.26482+1G>A
|
rs1440418037
|
|
|
NM_001267550.2(TTN):c.26482+5G>A
|
rs1060500590
|
|
|
NM_001267550.2(TTN):c.26574_26581dup (p.Thr8861fs)
|
rs2077097661
|
|
|
NM_001267550.2(TTN):c.26624A>T (p.Lys8875Ile)
|
|
|
|
NM_001267550.2(TTN):c.26719C>T (p.Pro8907Ser)
|
rs764261158
|
|
|
NM_001267550.2(TTN):c.26762-39TTTGT[3]
|
rs71393436
|
|
|
NM_001267550.2(TTN):c.26762-9delins34
|
|
|
|
NM_001267550.2(TTN):c.26764C>T (p.Arg8922Ter)
|
rs1250796004
|
|
|
NM_001267550.2(TTN):c.26800G>T (p.Glu8934Ter)
|
|
|
|
NM_001267550.2(TTN):c.26905_26906del (p.Gly8969fs)
|
rs2154296494
|
|
|
NM_001267550.2(TTN):c.26952del (p.Thr8984_Val8985insTer)
|
|
|
|
NM_001267550.2(TTN):c.27030T>A (p.Ser9010Arg)
|
rs774115714
|
|
|
NM_001267550.2(TTN):c.27121A>G (p.Ile9041Val)
|
rs1395755933
|
|
|
NM_001267550.2(TTN):c.27168del (p.Ser9056fs)
|
rs2076867354
|
|
|
NM_001267550.2(TTN):c.2716A>G (p.Ile906Val)
|
rs1304074202
|
|
|
NM_001267550.2(TTN):c.27224_27228del (p.Glu9075fs)
|
rs1553892376
|
|
|
NM_001267550.2(TTN):c.27310_27314del (p.Thr9104fs)
|
|
|
|
NM_001267550.2(TTN):c.27328+1del
|
|
|
|
NM_001267550.2(TTN):c.27328G>A (p.Ala9110Thr)
|
rs2076840796
|
|
|
NM_001267550.2(TTN):c.27382C>A (p.Pro9128Thr)
|
rs1283675898
|
|
|
NM_001267550.2(TTN):c.27385dup (p.Leu9129fs)
|
|
|
|
NM_001267550.2(TTN):c.2744G>C (p.Arg915Pro)
|
rs376922544
|
|
|
NM_001267550.2(TTN):c.27466C>T (p.Gln9156Ter)
|
rs2076800953
|
|
|
NM_001267550.2(TTN):c.27495dup (p.Ser9166fs)
|
|
|
|
NM_001267550.2(TTN):c.27513del (p.Pro9172fs)
|
rs794729378
|
|
|
NM_001267550.2(TTN):c.27532G>T (p.Asp9178Tyr)
|
rs727504202
|
|
|
NM_001267550.2(TTN):c.27607+5G>A
|
rs2154295977
|
|
|
NM_001267550.2(TTN):c.27713G>A (p.Trp9238Ter)
|
|
|
|
NM_001267550.2(TTN):c.27714G>A (p.Trp9238Ter)
|
|
|
|
NM_001267550.2(TTN):c.2775+1G>T
|
rs1057346353
|
|
|
NM_001267550.2(TTN):c.27765del (p.Phe9255fs)
|
|
|
|
NM_001267550.2(TTN):c.27856G>C (p.Val9286Leu)
|
rs777547707
|
|
|
NM_001267550.2(TTN):c.27886+1G>T
|
rs2076721233
|
|
|
NM_001267550.2(TTN):c.27886+3G>A
|
rs750753011
|
|
|
NM_001267550.2(TTN):c.278C>G (p.Ala93Gly)
|
rs1473207810
|
|
|
NM_001267550.2(TTN):c.27976G>T (p.Gly9326Ter)
|
|
|
|
NM_001267550.2(TTN):c.28032C>A (p.Ser9344Arg)
|
rs1338895544
|
|
|
NM_001267550.2(TTN):c.28034C>T (p.Pro9345Leu)
|
rs878854296
|
|
|
NM_001267550.2(TTN):c.2812del (p.Ile938fs)
|
|
|
|
NM_001267550.2(TTN):c.28131C>A (p.Asn9377Lys)
|
rs72648997
|
|
|
NM_001267550.2(TTN):c.28151C>G (p.Ser9384Cys)
|
rs760466007
|
|
|
NM_001267550.2(TTN):c.2824C>T (p.Pro942Ser)
|
rs1060500550
|
|
|
NM_001267550.2(TTN):c.28328A>T (p.Tyr9443Phe)
|
rs1553888051
|
|
|
NM_001267550.2(TTN):c.28379del (p.Asp9460fs)
|
|
|
|
NM_001267550.2(TTN):c.28391C>T (p.Ser9464Phe)
|
rs1553887984
|
|
|
NM_001267550.2(TTN):c.2841+1G>C
|
rs2154350493
|
|
|
NM_001267550.2(TTN):c.2841G>T (p.Ser947=)
|
rs774074192
|
|
|
NM_001267550.2(TTN):c.28433A>C (p.Asp9478Ala)
|
rs1553887887
|
|
|
NM_001267550.2(TTN):c.28469_28488del (p.Leu9490fs)
|
|
|
|
NM_001267550.2(TTN):c.28480A>T (p.Ser9494Cys)
|
rs1553886767
|
|
|
NM_001267550.2(TTN):c.28499C>G (p.Ser9500Ter)
|
rs2154294487
|
|
|
NM_001267550.2(TTN):c.28524del (p.Asn9509fs)
|
rs1489175898
|
|
|
NM_001267550.2(TTN):c.28667C>T (p.Ala9556Val)
|
rs1060500482
|
|
|
NM_001267550.2(TTN):c.28674G>C (p.Met9558Ile)
|
rs868771235
|
|
|
NM_001267550.2(TTN):c.2868del (p.Gly957fs)
|
rs794729355
|
|
|
NM_001267550.2(TTN):c.28726C>G (p.Leu9576Val)
|
rs780753483
|
|
|
NM_001267550.2(TTN):c.28753+1G>A
|
|
|
|
NM_001267550.2(TTN):c.28754A>G (p.Glu9585Gly)
|
rs200856239
|
|
|
NM_001267550.2(TTN):c.28795G>A (p.Val9599Ile)
|
rs887090503
|
|
|
NM_001267550.2(TTN):c.2882C>G (p.Thr961Ser)
|
rs1554018432
|
|
|
NM_001267550.2(TTN):c.28908C>A (p.Cys9636Ter)
|
rs1553883443
|
|
|
NM_001267550.2(TTN):c.28909_28922del (p.Cys9636_Ser9637insTer)
|
|
|
|
NM_001267550.2(TTN):c.28993del (p.Ser9665fs)
|
|
|
|
NM_001267550.2(TTN):c.29024C>A (p.Ser9675Ter)
|
rs886042115
|
|
|
NM_001267550.2(TTN):c.29042-2del
|
rs2075975847
|
|
|
NM_001267550.2(TTN):c.29048C>T (p.Pro9683Leu)
|
rs794729399
|
|
|
NM_001267550.2(TTN):c.29070dup (p.Lys9691fs)
|
|
|
|
NM_001267550.2(TTN):c.2907C>A (p.Tyr969Ter)
|
|
|
|
NM_001267550.2(TTN):c.29099_29100del (p.Phe9700fs)
|
|
|
|
NM_001267550.2(TTN):c.29100dup (p.Val9701fs)
|
rs796065340
|
|
|
NM_001267550.2(TTN):c.29134+3A>G
|
rs2154292612
|
|
|
NM_001267550.2(TTN):c.29185G>T (p.Val9729Phe)
|
rs1060500451
|
|
|
NM_001267550.2(TTN):c.29193G>A (p.Trp9731Ter)
|
|
|
|
NM_001267550.2(TTN):c.29212_29218del (p.Gln9738fs)
|
rs2154292470
|
|
|
NM_001267550.2(TTN):c.29230C>G (p.Arg9744Gly)
|
rs375266859
|
|
|
NM_001267550.2(TTN):c.29240_29241del (p.Ile9747fs)
|
|
|
|
NM_001267550.2(TTN):c.29334del (p.Glu9779fs)
|
|
|
|
NM_001267550.2(TTN):c.2941_2942insC (p.Tyr981fs)
|
rs2154350090
|
|
|
NM_001267550.2(TTN):c.2943C>A (p.Tyr981Ter)
|
|
|
|
NM_001267550.2(TTN):c.29440G>T (p.Gly9814Ter)
|
|
|
|
NM_001267550.2(TTN):c.29464G>T (p.Asp9822Tyr)
|
rs758873870
|
|
|
NM_001267550.2(TTN):c.29512_29513insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAATATGAAAAAT (p.Tyr9838delinsTrpProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyArgIleThrArgSerGlyAspArgAspHisProXaaXaaXaaXaaLysLysLysLysLysLysArgIleTer)
|
rs2154291624
|
|
|
NM_001267550.2(TTN):c.29597A>G (p.His9866Arg)
|
rs878919397
|
|
|
NM_001267550.2(TTN):c.29599A>T (p.Arg9867Ter)
|
|
|
|
NM_001267550.2(TTN):c.29694+5A>T
|
|
|
|
NM_001267550.2(TTN):c.29695-1G>T
|
|
|
|
NM_001267550.2(TTN):c.29729C>T (p.Thr9910Ile)
|
rs878854297
|
|
|
NM_001267550.2(TTN):c.2980_2995del (p.Gln994fs)
|
|
|
|
NM_001267550.2(TTN):c.29857G>A (p.Gly9953Ser)
|
rs770212603
|
|
|
NM_001267550.2(TTN):c.29965C>A (p.Pro9989Thr)
|
rs1553877891
|
|
|
NM_001267550.2(TTN):c.29984T>A (p.Leu9995His)
|
rs1060500554
|
|
|
NM_001267550.2(TTN):c.3002T>G (p.Met1001Arg)
|
rs148269839
|
|
|
NM_001267550.2(TTN):c.3007dup (p.Arg1003fs)
|
rs1574771625
|
|
|
NM_001267550.2(TTN):c.30091dup (p.Gln10031fs)
|
rs1553877628
|
|
|
NM_001267550.2(TTN):c.30139A>T (p.Ile10047Phe)
|
rs1553877530
|
|
|
NM_001267550.2(TTN):c.30223+1G>T
|
|
|
|
NM_001267550.2(TTN):c.30223+3G>A
|
|
|
|
NM_001267550.2(TTN):c.30223G>C (p.Ala10075Pro)
|
|
|
|
NM_001267550.2(TTN):c.30299A>C (p.Glu10100Ala)
|
rs1060500579
|
|
|
NM_001267550.2(TTN):c.302C>T (p.Thr101Ile)
|
rs879185669
|
|
|
NM_001267550.2(TTN):c.30325A>C (p.Thr10109Pro)
|
rs2075197256
|
|
|
NM_001267550.2(TTN):c.3034C>T (p.Arg1012Ter)
|
rs397517547
|
|
|
NM_001267550.2(TTN):c.30356_30359del (p.Glu10119fs)
|
rs2154290001
|
|
|
NM_001267550.2(TTN):c.30358_30359del (p.Ser10120fs)
|
rs2154290001
|
|
|
NM_001267550.2(TTN):c.30433+2T>G
|
rs1060500504
|
|
|
NM_001267550.2(TTN):c.30433+3G>C
|
|
|
|
NM_001267550.2(TTN):c.30436G>A (p.Val10146Ile)
|
rs1553875094
|
|
|
NM_001267550.2(TTN):c.30476del (p.Ala10159fs)
|
rs2154289805
|
|
|
NM_001267550.2(TTN):c.30487del (p.Ala10163fs)
|
rs1560498923
|
|
|
NM_001267550.2(TTN):c.30515T>A (p.Ile10172Asn)
|
rs772028677
|
|
|
NM_001267550.2(TTN):c.30538+5G>A
|
|
|
|
NM_001267550.2(TTN):c.30538G>C (p.Asp10180His)
|
|
|
|
NM_001267550.2(TTN):c.30583G>T (p.Ala10195Ser)
|
rs1060500585
|
|
|
NM_001267550.2(TTN):c.30598+1G>C
|
rs2075001826
|
|
|
NM_001267550.2(TTN):c.30598+4A>T
|
rs1560494355
|
|
|
NM_001267550.2(TTN):c.30598G>T (p.Glu10200Ter)
|
|
|
|
NM_001267550.2(TTN):c.30599-1G>A
|
rs1338491963
|
|
|
NM_001267550.2(TTN):c.30683-1G>A
|
|
|
|
NM_001267550.2(TTN):c.30694G>T (p.Ala10232Ser)
|
rs747294929
|
|
|
NM_001267550.2(TTN):c.30754+1G>T
|
rs914288774
|
|
|
NM_001267550.2(TTN):c.30781A>G (p.Thr10261Ala)
|
rs1060500409
|
|
|
NM_001267550.2(TTN):c.30889G>T (p.Glu10297Ter)
|
|
|
|
NM_001267550.2(TTN):c.30899A>G (p.Tyr10300Cys)
|
rs1553864504
|
|
|
NM_001267550.2(TTN):c.30963T>A (p.Tyr10321Ter)
|
rs1167073084
|
|
|
NM_001267550.2(TTN):c.30967G>T (p.Glu10323Ter)
|
rs1425322355
|
|
|
NM_001267550.2(TTN):c.30989_30990del (p.Thr10330fs)
|
rs2073652081
|
|
|
NM_001267550.2(TTN):c.30994C>G (p.Pro10332Ala)
|
rs757869762
|
|
|
NM_001267550.2(TTN):c.3100+5G>A
|
rs794729294
|
|
|
NM_001267550.2(TTN):c.3101-1G>A
|
rs2092877322
|
|
|
NM_001267550.2(TTN):c.3101-2A>T
|
rs1060500467
|
|
|
NM_001267550.2(TTN):c.31048G>A (p.Val10350Ile)
|
rs1553864204
|
|
|
NM_001267550.2(TTN):c.3109G>T (p.Glu1037Ter)
|
|
|
|
NM_001267550.2(TTN):c.31164C>A (p.Tyr10388Ter)
|
rs794727040
|
|
|
NM_001267550.2(TTN):c.31207+5G>A
|
rs876658051
|
|
|
NM_001267550.2(TTN):c.31207+5G>C
|
|
|
|
NM_001267550.2(TTN):c.31270G>T (p.Val10424Phe)
|
rs1352290576
|
|
|
NM_001267550.2(TTN):c.31390C>T (p.Arg10464Trp)
|
rs374555701
|
|
|
NM_001267550.2(TTN):c.31426G>T (p.Val10476Leu)
|
|
|
|
NM_001267550.2(TTN):c.31479del (p.Phe10493fs)
|
|
|
|
NM_001267550.2(TTN):c.31486C>G (p.His10496Asp)
|
rs1553860465
|
|
|
NM_001267550.2(TTN):c.31513+1G>A
|
rs1553860401
|
|
|
NM_001267550.2(TTN):c.31525C>A (p.Gln10509Lys)
|
rs1553859889
|
|
|
NM_001267550.2(TTN):c.31563_31564inv (p.Ile10522Val)
|
|
|
|
NM_001267550.2(TTN):c.31594G>T (p.Val10532Phe)
|
rs763955552
|
|
|
NM_001267550.2(TTN):c.31656dup (p.Val10553fs)
|
|
|
|
NM_001267550.2(TTN):c.31669G>T (p.Ala10557Ser)
|
rs1553857863
|
|
|
NM_001267550.2(TTN):c.31669_31670del (p.Ala10557fs)
|
|
|
|
NM_001267550.2(TTN):c.31679-1G>A
|
|
|
|
NM_001267550.2(TTN):c.31718del (p.Lys10573fs)
|
rs2154280109
|
|
|
NM_001267550.2(TTN):c.31735A>T (p.Lys10579Ter)
|
|
|
|
NM_001267550.2(TTN):c.31756C>G (p.Pro10586Ala)
|
rs768652249
|
|
|
NM_001267550.2(TTN):c.31757C>T (p.Pro10586Leu)
|
rs200459347
|
|
|
NM_001267550.2(TTN):c.31762+4C>G
|
rs368538884
|
|
|
NM_001267550.2(TTN):c.31762+5G>T
|
rs145387989
|
|
|
NM_001267550.2(TTN):c.31762+5_31762+7del
|
rs397517538
|
|
|
NM_001267550.2(TTN):c.31846+1G>A
|
rs794727043
|
|
|
NM_001267550.2(TTN):c.31927+1G>T
|
rs1553852989
|
|
|
NM_001267550.2(TTN):c.31927+3A>C
|
|
|
|
NM_001267550.2(TTN):c.32005C>A (p.Pro10669Thr)
|
rs945424720
|
|
|
NM_001267550.2(TTN):c.32005C>T (p.Pro10669Ser)
|
rs945424720
|
|
|
NM_001267550.2(TTN):c.32012-1G>T
|
rs2154278075
|
|
|
NM_001267550.2(TTN):c.32018C>G (p.Ala10673Gly)
|
rs773935335
|
|
|
NM_001267550.2(TTN):c.32090_32095+21del
|
|
|
|
NM_001267550.2(TTN):c.32095+3A>G
|
|
|
|
NM_001267550.2(TTN):c.32095+5G>C
|
rs869312090
|
|
|
NM_001267550.2(TTN):c.32096-1G>T
|
|
|
|
NM_001267550.2(TTN):c.32096-4_32117del
|
rs1560398348
|
|
|
NM_001267550.2(TTN):c.32135_32136dup (p.Val10713fs)
|
|
|
|
NM_001267550.2(TTN):c.32161G>T (p.Ala10721Ser)
|
rs753365187
|
|
|
NM_001267550.2(TTN):c.32164G>A (p.Val10722Ile)
|
rs763742779
|
|
|
NM_001267550.2(TTN):c.32189G>C (p.Arg10730Pro)
|
rs771054923
|
|
|
NM_001267550.2(TTN):c.32311+1G>T
|
rs1577433734
|
|
|
NM_001267550.2(TTN):c.32311G>A (p.Val10771Met)
|
rs549877654
|
|
|
NM_001267550.2(TTN):c.32312-1G>C
|
rs2070649864
|
|
|
NM_001267550.2(TTN):c.32332del (p.Tyr10778fs)
|
rs2070642658
|
|
|
NM_001267550.2(TTN):c.3241G>T (p.Ala1081Ser)
|
rs55914517
|
|
|
NM_001267550.2(TTN):c.32446dup (p.Ile10816fs)
|
rs2154275355
|
|
|
NM_001267550.2(TTN):c.32470+1G>T
|
|
|
|
NM_001267550.2(TTN):c.32554+1G>A
|
rs376018437
|
|
|
NM_001267550.2(TTN):c.32554+1G>T
|
rs376018437
|
|
|
NM_001267550.2(TTN):c.32554+5_32554+6del
|
rs771419718
|
|
|
NM_001267550.2(TTN):c.32639-2A>C
|
rs2154274686
|
|
|
NM_001267550.2(TTN):c.32656C>T (p.Gln10886Ter)
|
|
|
|
NM_001267550.2(TTN):c.32703_33665-50del
|
|
|
|
NM_001267550.2(TTN):c.32761G>C (p.Val10921Leu)
|
rs775126784
|
|
|
NM_001267550.2(TTN):c.32806G>A (p.Val10936Met)
|
|
|
|
NM_001267550.2(TTN):c.32879C>A (p.Pro10960His)
|
rs879029800
|
|
|
NM_001267550.2(TTN):c.32883_32887+6del
|
|
|
|
NM_001267550.2(TTN):c.32887+1G>A
|
rs546105899
|
|
|
NM_001267550.2(TTN):c.32887+2T>C
|
rs2154273077
|
|
|
NM_001267550.2(TTN):c.32888-1del
|
rs869312041
|
|
|
NM_001267550.2(TTN):c.32899A>G (p.Met10967Val)
|
rs1392264858
|
|
|
NM_001267550.2(TTN):c.32930AAG[2] (p.Glu10979del)
|
rs774683936
|
|
|
NM_001267550.2(TTN):c.32970_32987del (p.10987_10989EEY[1])
|
rs766756026
|
|
|
NM_001267550.2(TTN):c.33064C>T (p.Arg11022Ter)
|
rs747806875
|
|
|
NM_001267550.2(TTN):c.33083_33086dup (p.Tyr11029Ter)
|
rs2154271814
|
|
|
NM_001267550.2(TTN):c.33094G>A (p.Glu11032Lys)
|
rs2154271806
|
|
|
NM_001267550.2(TTN):c.3309C>A (p.Cys1103Ter)
|
rs1467686861
|
|
|
NM_001267550.2(TTN):c.3310C>T (p.Gln1104Ter)
|
|
|
|
NM_001267550.2(TTN):c.33172G>A (p.Val11058Met)
|
|
|
|
NM_001267550.2(TTN):c.33173-1G>A
|
rs794729256
|
|
|
NM_001267550.2(TTN):c.33215T>G (p.Ile11072Ser)
|
rs1553836426
|
|
|
NM_001267550.2(TTN):c.33247+2T>A
|
|
|
|
NM_001267550.2(TTN):c.33283dup (p.Ile11095fs)
|
|
|
|
NM_001267550.2(TTN):c.33289_33290del (p.Ile11097fs)
|
|
|
|
NM_001267550.2(TTN):c.33339A>G (p.Lys11113=)
|
rs926306750
|
|
|
NM_001267550.2(TTN):c.33340+1dup
|
rs794729310
|
|
|
NM_001267550.2(TTN):c.33340G>T (p.Val11114Leu)
|
rs1328375389
|
|
|
NM_001267550.2(TTN):c.33344C>A (p.Pro11115His)
|
rs1060500394
|
|
|
NM_001267550.2(TTN):c.33377A>C (p.Lys11126Thr)
|
rs760742068
|
|
|
NM_001267550.2(TTN):c.33417_33418+1del
|
rs2069047923
|
|
|
NM_001267550.2(TTN):c.3344G>A (p.Trp1115Ter)
|
rs2154349662
|
|
|
NM_001267550.2(TTN):c.3351dup (p.Ser1118fs)
|
rs2092847994
|
|
|
NM_001267550.2(TTN):c.33569T>C (p.Ile11190Thr)
|
|
|
|
NM_001267550.2(TTN):c.33580+1G>A
|
rs2068947933
|
|
|
NM_001267550.2(TTN):c.33580+2T>C
|
|
|
|
NM_001267550.2(TTN):c.33581-2A>T
|
|
|
|
NM_001267550.2(TTN):c.33648del (p.Ala11217fs)
|
|
|
|
NM_001267550.2(TTN):c.33656C>T (p.Pro11219Leu)
|
rs757268986
|
|
|
NM_001267550.2(TTN):c.33710_33725del (p.Ile11237fs)
|
rs2154269652
|
|
|
NM_001267550.2(TTN):c.33742+3A>G
|
|
|
|
NM_001267550.2(TTN):c.33742+5A>C
|
rs2068798031
|
|
|
NM_001267550.2(TTN):c.33742G>A (p.Val11248Ile)
|
rs996345107
|
|
|
NM_001267550.2(TTN):c.33775G>A (p.Glu11259Lys)
|
rs1060500563
|
|
|
NM_001267550.2(TTN):c.337A>G (p.Met113Val)
|
rs1060500430
|
|
|
NM_001267550.2(TTN):c.33817_33826+8del
|
rs2154269293
|
|
|
NM_001267550.2(TTN):c.33826+1G>A
|
rs1389908421
|
|
|
NM_001267550.2(TTN):c.33826G>A (p.Val11276Met)
|
|
|
|
NM_001267550.2(TTN):c.33827-1G>A
|
rs2068604683
|
|
|
NM_001267550.2(TTN):c.33892G>T (p.Glu11298Ter)
|
|
|
|
NM_001267550.2(TTN):c.3396C>A (p.Tyr1132Ter)
|
|
|
|
NM_001267550.2(TTN):c.34022_34041del (p.Val11341fs)
|
|
|
|
NM_001267550.2(TTN):c.34039C>T (p.Gln11347Ter)
|
rs2154268786
|
|
|
NM_001267550.2(TTN):c.3404_3407dup (p.Gly1137fs)
|
rs2154348982
|
|
|
NM_001267550.2(TTN):c.34075C>G (p.Pro11359Ala)
|
rs1060500464
|
|
|
NM_001267550.2(TTN):c.34080del (p.Glu11361fs)
|
|
|
|
NM_001267550.2(TTN):c.34093_34102del (p.Pro11365fs)
|
rs1553823547
|
|
|
NM_001267550.2(TTN):c.34098GGAAGAGGAAGTTCTACCTGA[1] (p.11363VLPEEEE[3])
|
rs397517548
|
|
|
NM_001267550.2(TTN):c.34098GGAAGAGGAAGTTCTACCTGA[3] (p.11363VLPEEEE[5])
|
rs397517548
|
|
|
NM_001267550.2(TTN):c.34098GGAAGAGGAAGTTCTACCTGA[4] (p.11363VLPEEEE[6])
|
rs397517548
|
|
|
NM_001267550.2(TTN):c.34108G>A (p.Val11370Ile)
|
rs1060500545
|
|
|
NM_001267550.2(TTN):c.3417C>A (p.Cys1139Ter)
|
|
|
|
NM_001267550.2(TTN):c.34207G>T (p.Glu11403Ter)
|
rs878921943
|
|
|
NM_001267550.2(TTN):c.34225G>A (p.Glu11409Lys)
|
rs770657053
|
|
|
NM_001267550.2(TTN):c.34247_34248delinsTC (p.Glu11416Val)
|
rs1060500408
|
|
|
NM_001267550.2(TTN):c.34258G>T (p.Glu11420Ter)
|
|
|
|
NM_001267550.2(TTN):c.34378+1del
|
rs1462972904
|
|
|
NM_001267550.2(TTN):c.34379-3A>T
|
rs1060500497
|
|
|
NM_001267550.2(TTN):c.34400T>C (p.Val11467Ala)
|
rs981211046
|
|
|
NM_001267550.2(TTN):c.34402_34416del (p.Thr11468_Val11472del)
|
rs754236839
|
|
|
NM_001267550.2(TTN):c.34486A>G (p.Lys11496Glu)
|
rs1034048129
|
|
|
NM_001267550.2(TTN):c.34486A>T (p.Lys11496Ter)
|
|
|
|
NM_001267550.2(TTN):c.3457G>T (p.Glu1153Ter)
|
rs2092730732
|
|
|
NM_001267550.2(TTN):c.34592A>G (p.Glu11531Gly)
|
rs1553815943
|
|
|
NM_001267550.2(TTN):c.34612+2T>C
|
rs1577253441
|
|
|
NM_001267550.2(TTN):c.34660GAA[1] (p.Glu11555del)
|
rs763098227
|
|
|
NM_001267550.2(TTN):c.34684G>A (p.Val11562Ile)
|
rs1060500397
|
|
|
NM_001267550.2(TTN):c.34709-1G>A
|
rs727503634
|
|
|
NM_001267550.2(TTN):c.34742C>T (p.Ala11581Val)
|
rs1060500436
|
|
|
NM_001267550.2(TTN):c.3476G>A (p.Arg1159His)
|
rs149883066
|
|
|
NM_001267550.2(TTN):c.34786+1G>T
|
rs879010418
|
|
|
NM_001267550.2(TTN):c.34786+3del
|
|
|
|
NM_001267550.2(TTN):c.34786G>A (p.Val11596Met)
|
rs794729415
|
|
|
NM_001267550.2(TTN):c.34812del (p.Val11605fs)
|
|
|
|
NM_001267550.2(TTN):c.34816C>T (p.Pro11606Ser)
|
rs1553810609
|
|
|
NM_001267550.2(TTN):c.34823C>T (p.Pro11608Leu)
|
rs1553810583
|
|
|
NM_001267550.2(TTN):c.34823del (p.Pro11608fs)
|
|
|
|
NM_001267550.2(TTN):c.34855G>A (p.Val11619Met)
|
rs1560262245
|
|
|
NM_001267550.2(TTN):c.34863del (p.Val11622fs)
|
|
|
|
NM_001267550.2(TTN):c.34931-10G>A
|
rs1553809647
|
|
|
NM_001267550.2(TTN):c.34979T>C (p.Val11660Ala)
|
rs1553809428
|
|
|
NM_001267550.2(TTN):c.35044del (p.Glu11682fs)
|
rs2067110004
|
|
|
NM_001267550.2(TTN):c.35104T>G (p.Phe11702Val)
|
rs1553809123
|
|
|
NM_001267550.2(TTN):c.35125A>T (p.Arg11709Ter)
|
|
|
|
NM_001267550.2(TTN):c.35154dup (p.Val11719fs)
|
rs2067087661
|
|
|
NM_001267550.2(TTN):c.35155G>T (p.Val11719Phe)
|
rs754098075
|
|
|
NM_001267550.2(TTN):c.35156T>C (p.Val11719Ala)
|
rs754536506
|
|
|
NM_001267550.2(TTN):c.35227+3A>G
|
rs1577214679
|
|
|
NM_001267550.2(TTN):c.35265dup (p.Pro11756fs)
|
rs1198364572
|
|
|
NM_001267550.2(TTN):c.35291A>G (p.Lys11764Arg)
|
rs1060500446
|
|
|
NM_001267550.2(TTN):c.35308+1G>A
|
|
|
|
NM_001267550.2(TTN):c.35308+1G>T
|
rs1423135750
|
|
|
NM_001267550.2(TTN):c.35309-1G>A
|
|
|
|
NM_001267550.2(TTN):c.35346del (p.Val11783fs)
|
rs2154263836
|
|
|
NM_001267550.2(TTN):c.35386+170_35397del
|
|
|
|
NM_001267550.2(TTN):c.35429del (p.Arg11810fs)
|
rs2154263436
|
|
|
NM_001267550.2(TTN):c.3544A>T (p.Lys1182Ter)
|
rs2092638111
|
|
|
NM_001267550.2(TTN):c.35471-9T>C
|
rs746940707
|
|
|
NM_001267550.2(TTN):c.35488_35492del (p.Lys11830fs)
|
rs1370876304
|
|
|
NM_001267550.2(TTN):c.3553C>T (p.Gln1185Ter)
|
|
|
|
NM_001267550.2(TTN):c.35545+1G>A
|
rs2154263213
|
|
|
NM_001267550.2(TTN):c.35584G>C (p.Val11862Leu)
|
rs1553800435
|
|
|
NM_001267550.2(TTN):c.35602C>T (p.Gln11868Ter)
|
|
|
|
NM_001267550.2(TTN):c.35630-1G>A
|
|
|
|
NM_001267550.2(TTN):c.35662G>A (p.Asp11888Asn)
|
rs1356416507
|
|
|
NM_001267550.2(TTN):c.35675_35676del (p.Val11892fs)
|
rs1440560303
|
|
|
NM_001267550.2(TTN):c.35676_35679dup (p.Ile11894fs)
|
rs2066170360
|
|
|
NM_001267550.2(TTN):c.35693G>A (p.Arg11898Lys)
|
rs1553799769
|
|
|
NM_001267550.2(TTN):c.35713+1G>A
|
rs2066160245
|
|
|
NM_001267550.2(TTN):c.35713+1del
|
|
|
|
NM_001267550.2(TTN):c.35713+2T>A
|
rs774814237
|
|
|
NM_001267550.2(TTN):c.35714-1G>C
|
rs2154261850
|
|
|
NM_001267550.2(TTN):c.35739dup (p.Pro11914fs)
|
rs968544783
|
|
|
NM_001267550.2(TTN):c.35797+3A>G
|
|
|
|
NM_001267550.2(TTN):c.35797G>A (p.Glu11933Lys)
|
rs769110483
|
|
|
NM_001267550.2(TTN):c.35893G>T (p.Glu11965Ter)
|
|
|
|
NM_001267550.2(TTN):c.35897T>G (p.Ile11966Ser)
|
rs1553796799
|
|
|
NM_001267550.2(TTN):c.35939T>C (p.Ile11980Thr)
|
rs927982415
|
|
|
NM_001267550.2(TTN):c.35972T>C (p.Met11991Thr)
|
rs1553796242
|
|
|
NM_001267550.2(TTN):c.35974A>T (p.Lys11992Ter)
|
|
|
|
NM_001267550.2(TTN):c.36035G>A (p.Arg12012His)
|
rs576436744
|
|
|
NM_001267550.2(TTN):c.36044-2A>C
|
|
|
|
NM_001267550.2(TTN):c.36044C>G (p.Thr12015Arg)
|
rs199868380
|
|
|
NM_001267550.2(TTN):c.36088del (p.Ser12030fs)
|
|
|
|
NM_001267550.2(TTN):c.36097del (p.Arg12033fs)
|
rs769704822
|
|
|
NM_001267550.2(TTN):c.36118+3A>G
|
|
|
|
NM_001267550.2(TTN):c.36119-1G>C
|
rs1239720687
|
|
|
NM_001267550.2(TTN):c.36202+1G>A
|
|
|
|
NM_001267550.2(TTN):c.36202+1G>T
|
|
|
|
NM_001267550.2(TTN):c.36202+3A>G
|
|
|
|
NM_001267550.2(TTN):c.36203-1G>T
|
|
|
|
NM_001267550.2(TTN):c.36227T>C (p.Val12076Ala)
|
rs772990799
|
|
|
NM_001267550.2(TTN):c.36265del (p.Val12089fs)
|
rs2154259826
|
|
|
NM_001267550.2(TTN):c.36280+1G>T
|
|
|
|
NM_001267550.2(TTN):c.36280+2T>G
|
|
|
|
NM_001267550.2(TTN):c.36280+3A>G
|
rs2154259799
|
|
|
NM_001267550.2(TTN):c.36280G>A (p.Val12094Met)
|
|
|
|
NM_001267550.2(TTN):c.36280G>C (p.Val12094Leu)
|
|
|
|
NM_001267550.2(TTN):c.36280G>T (p.Val12094Leu)
|
|
|
|
NM_001267550.2(TTN):c.36342G>C (p.Lys12114Asn)
|
rs766280406
|
|
|
NM_001267550.2(TTN):c.36364+2T>A
|
|
|
|
NM_001267550.2(TTN):c.36364+4dup
|
rs949125365
|
|
|
NM_001267550.2(TTN):c.3637G>C (p.Glu1213Gln)
|
rs1043395012
|
|
|
NM_001267550.2(TTN):c.36395_36396del (p.Glu12132fs)
|
|
|
|
NM_001267550.2(TTN):c.36448+4_36532+3del
|
rs2154258800
|
|
|
NM_001267550.2(TTN):c.36507dup (p.Glu12170fs)
|
|
|
|
NM_001267550.2(TTN):c.36532+3A>G
|
|
|
|
NM_001267550.2(TTN):c.36533-1G>A
|
|
|
|
NM_001267550.2(TTN):c.365del (p.Arg122fs)
|
rs2154359059
|
|
|
NM_001267550.2(TTN):c.36685A>G (p.Ser12229Gly)
|
rs1060500531
|
|
|
NM_001267550.2(TTN):c.36696del (p.Glu12233fs)
|
rs1060500458
|
|
|
NM_001267550.2(TTN):c.36701-6T>G
|
rs1060500422
|
|
|
NM_001267550.2(TTN):c.36701-9T>G
|
rs1060500427
|
|
|
NM_001267550.2(TTN):c.36708A>T (p.Glu12236Asp)
|
rs796478043
|
|
|
NM_001267550.2(TTN):c.36821_36822insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATGCNNAAAAAAAAAAAAAAAAAAAA (p.Glu12274_Lys12275insAlaGlyArgGlyGlySerArgLeuTer)
|
|
|
|
NM_001267550.2(TTN):c.36982A>G (p.Thr12328Ala)
|
rs146313925
|
|
|
NM_001267550.2(TTN):c.3701T>C (p.Val1234Ala)
|
rs1060500401
|
|
|
NM_001267550.2(TTN):c.37029A>G (p.Pro12343=)
|
rs200163049
|
|
|
NM_001267550.2(TTN):c.3717T>G (p.Tyr1239Ter)
|
|
|
|
NM_001267550.2(TTN):c.37222G>A (p.Val12408Ile)
|
rs1553786445
|
|
|
NM_001267550.2(TTN):c.3729+1G>A
|
rs781562337
|
|
|
NM_001267550.2(TTN):c.3729+3G>A
|
|
|
|
NM_001267550.2(TTN):c.3736C>A (p.His1246Asn)
|
rs1554012975
|
|
|
NM_001267550.2(TTN):c.37373C>T (p.Pro12458Leu)
|
rs1553782191
|
|
|
NM_001267550.2(TTN):c.37397C>T (p.Pro12466Leu)
|
rs727503632
|
|
|
NM_001267550.2(TTN):c.37421T>C (p.Ile12474Thr)
|
rs72650057
|
|
|
NM_001267550.2(TTN):c.37447C>G (p.Pro12483Ala)
|
rs1060500552
|
|
|
NM_001267550.2(TTN):c.37477G>A (p.Glu12493Lys)
|
rs1426948805
|
|
|
NM_001267550.2(TTN):c.37489G>A (p.Glu12497Lys)
|
rs1553781387
|
|
|
NM_001267550.2(TTN):c.37502C>T (p.Pro12501Leu)
|
rs1236045684
|
|
|
NM_001267550.2(TTN):c.37576A>T (p.Lys12526Ter)
|
rs1560149950
|
|
|
NM_001267550.2(TTN):c.37616_37627+12del
|
rs1560149416
|
|
|
NM_001267550.2(TTN):c.37651G>A (p.Val12551Ile)
|
rs1437747405
|
|
|
NM_001267550.2(TTN):c.37702G>A (p.Ala12568Thr)
|
rs1060500468
|
|
|
NM_001267550.2(TTN):c.37711G>A (p.Val12571Met)
|
rs1577039412
|
|
|
NM_001267550.2(TTN):c.37903G>C (p.Glu12635Gln)
|
rs749935074
|
|
|
NM_001267550.2(TTN):c.37949T>C (p.Val12650Ala)
|
rs1553779318
|
|
|
NM_001267550.2(TTN):c.37996C>A (p.Pro12666Thr)
|
rs201684070
|
|
|
NM_001267550.2(TTN):c.38000C>A (p.Ser12667Ter)
|
rs572641259
|
|
|
NM_001267550.2(TTN):c.38101C>T (p.Pro12701Ser)
|
rs1284117197
|
|
|
NM_001267550.2(TTN):c.38147T>A (p.Val12716Asp)
|
rs1553777417
|
|
|
NM_001267550.2(TTN):c.3817G>T (p.Glu1273Ter)
|
rs2154347744
|
|
|
NM_001267550.2(TTN):c.38206+6_39295+5del
|
|
|
|
NM_001267550.2(TTN):c.38230G>A (p.Glu12744Lys)
|
rs1553777033
|
|
|
NM_001267550.2(TTN):c.38249A>C (p.Lys12750Thr)
|
rs1337231554
|
|
|
NM_001267550.2(TTN):c.3829G>T (p.Glu1277Ter)
|
|
|
|
NM_001267550.2(TTN):c.3831_3835del (p.Glu1277fs)
|
rs1060500558
|
|
|
NM_001267550.2(TTN):c.38326G>T (p.Glu12776Ter)
|
rs2063658613
|
|
|
NM_001267550.2(TTN):c.3838del (p.Ala1280fs)
|
|
|
|
NM_001267550.2(TTN):c.38424del (p.Lys12809fs)
|
rs1553775991
|
|
|
NM_001267550.2(TTN):c.38465-8C>A
|
rs937031915
|
|
|
NM_001267550.2(TTN):c.38519A>G (p.Lys12840Arg)
|
rs1250144035
|
|
|
NM_001267550.2(TTN):c.38546-2del
|
rs1486772794
|
|
|
NM_001267550.2(TTN):c.3854A>T (p.Glu1285Val)
|
rs1554012705
|
|
|
NM_001267550.2(TTN):c.38626+4dup
|
rs1260372587
|
|
|
NM_001267550.2(TTN):c.3864del (p.Val1289fs)
|
rs2154347714
|
|
|
NM_001267550.2(TTN):c.38660del (p.Lys12887fs)
|
rs761617432
|
|
|
NM_001267550.2(TTN):c.38708-15_38723del
|
|
|
|
NM_001267550.2(TTN):c.38708-2A>C
|
|
|
|
NM_001267550.2(TTN):c.38723AAG[1] (p.Glu12909del)
|
rs1060500390
|
|
|
NM_001267550.2(TTN):c.38783C>G (p.Pro12928Arg)
|
rs752337495
|
|
|
NM_001267550.2(TTN):c.38791+1G>C
|
|
|
|
NM_001267550.2(TTN):c.38792-1_38792insA
|
|
|
|
NM_001267550.2(TTN):c.38875G>T (p.Val12959Leu)
|
|
|
|
NM_001267550.2(TTN):c.38876-2A>T
|
|
|
|
NM_001267550.2(TTN):c.38879_38880inv (p.Pro12960Leu)
|
|
|
|
NM_001267550.2(TTN):c.38915T>C (p.Met12972Thr)
|
rs1060500540
|
|
|
NM_001267550.2(TTN):c.39043+4T>C
|
rs2063256186
|
|
|
NM_001267550.2(TTN):c.39056C>A (p.Pro13019Gln)
|
rs763845436
|
|
|
NM_001267550.2(TTN):c.39057G>C (p.Pro13019=)
|
rs371945519
|
|
|
NM_001267550.2(TTN):c.39058_39141del84 (p.Ala13030_Pro13057del)
|
|
|
|
NM_001267550.2(TTN):c.39059AAG[1] (p.Glu13021del)
|
rs1298186498
|
|
|
NM_001267550.2(TTN):c.39127+3A>T
|
rs2154250699
|
|
|
NM_001267550.2(TTN):c.39163_39166del (p.Lys13055fs)
|
rs2063155917
|
|
|
NM_001267550.2(TTN):c.39201_39203dup (p.Pro13068dup)
|
rs748388695
|
|
|
NM_001267550.2(TTN):c.39204del (p.Thr13069fs)
|
rs1560106851
|
|
|
NM_001267550.2(TTN):c.39210del (p.Val13071fs)
|
rs2154250499
|
|
|
NM_001267550.2(TTN):c.39211G>T (p.Val13071Phe)
|
rs1334646153
|
|
|
NM_001267550.2(TTN):c.39289C>A (p.Pro13097Thr)
|
rs370157162
|
|
|
NM_001267550.2(TTN):c.39295+1G>C
|
|
|
|
NM_001267550.2(TTN):c.39313G>T (p.Glu13105Ter)
|
|
|
|
NM_001267550.2(TTN):c.39355C>T (p.Pro13119Ser)
|
rs2063054787
|
|
|
NM_001267550.2(TTN):c.39374_39376del (p.Pro13125del)
|
rs1292233616
|
|
|
NM_001267550.2(TTN):c.39380-1G>C
|
rs2063018968
|
|
|
NM_001267550.2(TTN):c.39407C>T (p.Pro13136Leu)
|
rs1060500460
|
|
|
NM_001267550.2(TTN):c.39463+1G>C
|
rs1553770003
|
|
|
NM_001267550.2(TTN):c.39463+2T>C
|
rs1576956162
|
|
|
NM_001267550.2(TTN):c.39511G>A (p.Val13171Met)
|
rs780550944
|
|
|
NM_001267550.2(TTN):c.39511del (p.Val13171fs)
|
|
|
|
NM_001267550.2(TTN):c.39525G>C (p.Lys13175Asn)
|
rs1060500515
|
|
|
NM_001267550.2(TTN):c.39539del (p.Pro13180fs)
|
rs2062944024
|
|
|
NM_001267550.2(TTN):c.39546del (p.Val13183fs)
|
|
|
|
NM_001267550.2(TTN):c.39547+3A>G
|
rs878854370
|
|
|
NM_001267550.2(TTN):c.39547+4T>C
|
rs754899622
|
|
|
NM_001267550.2(TTN):c.39547G>C (p.Val13183Leu)
|
rs2154249791
|
|
|
NM_001267550.2(TTN):c.39563AAG[1] (p.Glu13189del)
|
rs1553769206
|
|
|
NM_001267550.2(TTN):c.39580A>T (p.Lys13194Ter)
|
rs2154249634
|
|
|
NM_001267550.2(TTN):c.39625+1G>C
|
|
|
|
NM_001267550.2(TTN):c.39625+2T>C
|
rs774766702
|
|
|
NM_001267550.2(TTN):c.3963+1G>T
|
rs1561325112
|
|
|
NM_001267550.2(TTN):c.3963+3A>G
|
rs2092547968
|
|
|
NM_001267550.2(TTN):c.39709+4C>T
|
rs1553768226
|
|
|
NM_001267550.2(TTN):c.39727G>T (p.Glu13243Ter)
|
|
|
|
NM_001267550.2(TTN):c.3972G>A (p.Trp1324Ter)
|
rs1561323791
|
|
|
NM_001267550.2(TTN):c.39743A>T (p.Glu13248Val)
|
rs1224909860
|
|
|
NM_001267550.2(TTN):c.39817+1G>C
|
rs959064823
|
|
|
NM_001267550.2(TTN):c.39818-1G>C
|
rs2062662018
|
|
|
NM_001267550.2(TTN):c.39819_39820delinsTT (p.Pro13274Ser)
|
rs727503630
|
|
|
NM_001267550.2(TTN):c.39834del (p.Lys13279fs)
|
rs886044415
|
|
|
NM_001267550.2(TTN):c.39862G>C (p.Val13288Leu)
|
rs878854303
|
|
|
NM_001267550.2(TTN):c.39895+1G>C
|
rs749931280
|
|
|
NM_001267550.2(TTN):c.39895+2T>C
|
|
|
|
NM_001267550.2(TTN):c.39943G>C (p.Val13315Leu)
|
rs1553766447
|
|
|
NM_001267550.2(TTN):c.39974-1G>A
|
|
|
|
NM_001267550.2(TTN):c.39995T>G (p.Leu13332Arg)
|
rs1424568997
|
|
|
NM_001267550.2(TTN):c.40057+1G>A
|
|
|
|
NM_001267550.2(TTN):c.40057+1G>C
|
|
|
|
NM_001267550.2(TTN):c.40057G>A (p.Val13353Met)
|
rs1422486813
|
|
|
NM_001267550.2(TTN):c.40141+6C>A
|
rs750448649
|
|
|
NM_001267550.2(TTN):c.4017G>C (p.Met1339Ile)
|
rs1561323191
|
|
|
NM_001267550.2(TTN):c.40220_40222+1del
|
rs2154245535
|
|
|
NM_001267550.2(TTN):c.40222+1G>A
|
|
|
|
NM_001267550.2(TTN):c.40223-1G>A
|
|
|
|
NM_001267550.2(TTN):c.40225C>T (p.Arg13409Cys)
|
rs769146381
|
|
|
NM_001267550.2(TTN):c.4027C>T (p.Gln1343Ter)
|
rs727503697
|
|
|
NM_001267550.2(TTN):c.40316T>C (p.Val13439Ala)
|
rs1553761103
|
|
|
NM_001267550.2(TTN):c.40342del (p.Arg13448fs)
|
|
|
|
NM_001267550.2(TTN):c.40349del (p.Pro13450fs)
|
|
|
|
NM_001267550.2(TTN):c.40404del (p.Ala13470fs)
|
|
|
|
NM_001267550.2(TTN):c.40408G>A (p.Ala13470Thr)
|
rs2061858723
|
|
|
NM_001267550.2(TTN):c.40409-8C>A
|
rs1351493193
|
|
|
NM_001267550.2(TTN):c.40489G>T (p.Glu13497Ter)
|
|
|
|
NM_001267550.2(TTN):c.40508T>G (p.Leu13503Ter)
|
rs974323028
|
|
|
NM_001267550.2(TTN):c.40537del (p.Glu13513fs)
|
rs1553756349
|
|
|
NM_001267550.2(TTN):c.40576G>T (p.Glu13526Ter)
|
rs1560026402
|
|
|
NM_001267550.2(TTN):c.40576GAA[3] (p.Glu13529del)
|
rs727504199
|
|
|
NM_001267550.2(TTN):c.4057GTT[1] (p.Val1354del)
|
rs878854304
|
|
|
NM_001267550.2(TTN):c.40633+3A>G
|
|
|
|
NM_001267550.2(TTN):c.40633+5G>A
|
rs2061194221
|
|
|
NM_001267550.2(TTN):c.40633+5G>T
|
|
|
|
NM_001267550.2(TTN):c.40635del (p.Pro13546fs)
|
rs2154238079
|
|
|
NM_001267550.2(TTN):c.40666G>A (p.Glu13556Lys)
|
rs781066709
|
|
|
NM_001267550.2(TTN):c.40686del (p.Thr13563fs)
|
|
|
|
NM_001267550.2(TTN):c.40691_40713dup (p.Pro13572fs)
|
|
|
|
NM_001267550.2(TTN):c.40699_40703del (p.Arg13567fs)
|
rs2154238027
|
|
|
NM_001267550.2(TTN):c.40699del (p.Arg13567fs)
|
|
|
|
NM_001267550.2(TTN):c.40712A>T (p.Glu13571Val)
|
rs1190002260
|
|
|
NM_001267550.2(TTN):c.40723+1del
|
rs876658058
|
|
|
NM_001267550.2(TTN):c.40750dup (p.Leu13584fs)
|
rs2061028828
|
|
|
NM_001267550.2(TTN):c.40751_40769del (p.Leu13584fs)
|
|
|
|
NM_001267550.2(TTN):c.40760_40787-52del
|
rs1553752889
|
|
|
NM_001267550.2(TTN):c.40787-2A>G
|
|
|
|
NM_001267550.2(TTN):c.40876G>C (p.Glu13626Gln)
|
|
|
|
NM_001267550.2(TTN):c.40879G>A (p.Ala13627Thr)
|
rs1060500548
|
|
|
NM_001267550.2(TTN):c.40921_40922dup (p.Lys13642fs)
|
|
|
|
NM_001267550.2(TTN):c.40927+1G>A
|
rs1553749862
|
|
|
NM_001267550.2(TTN):c.40927+3G>A
|
rs2154233434
|
|
|
NM_001267550.2(TTN):c.40928-2A>C
|
rs2154231706
|
|
|
NM_001267550.2(TTN):c.40940del (p.Lys13647fs)
|
rs2154231664
|
|
|
NM_001267550.2(TTN):c.4102A>C (p.Asn1368His)
|
rs1377114122
|
|
|
NM_001267550.2(TTN):c.41043del (p.Pro13682fs)
|
|
|
|
NM_001267550.2(TTN):c.41149A>C (p.Thr13717Pro)
|
rs1553747949
|
|
|
NM_001267550.2(TTN):c.41152A>T (p.Thr13718Ser)
|
rs562561380
|
|
|
NM_001267550.2(TTN):c.41222_41223del (p.Arg13741fs)
|
rs1436937190
|
|
|
NM_001267550.2(TTN):c.41254G>A (p.Asp13752Asn)
|
rs1349773180
|
|
|
NM_001267550.2(TTN):c.4126T>C (p.Ser1376Pro)
|
rs1060500425
|
|
|
NM_001267550.2(TTN):c.41275_41276del (p.Val13759fs)
|
rs1576745536
|
|
|
NM_001267550.2(TTN):c.41326dup (p.Glu13776fs)
|
rs2154231011
|
|
|
NM_001267550.2(TTN):c.41329+1G>T
|
rs796238032
|
|
|
NM_001267550.2(TTN):c.41329+2T>G
|
rs1553747489
|
|
|
NM_001267550.2(TTN):c.41329+2dup
|
|
|
|
NM_001267550.2(TTN):c.41330-1G>T
|
rs2154230691
|
|
|
NM_001267550.2(TTN):c.41367dup (p.Val13790fs)
|
|
|
|
NM_001267550.2(TTN):c.41415_41418del (p.Asn13805fs)
|
rs1576741993
|
|
|
NM_001267550.2(TTN):c.41432del (p.Val13811fs)
|
rs2060408539
|
|
|
NM_001267550.2(TTN):c.41434dup (p.Trp13812fs)
|
rs2060408311
|
|
|
NM_001267550.2(TTN):c.41436G>A (p.Trp13812Ter)
|
rs2060408042
|
|
|
NM_001267550.2(TTN):c.41483del (p.Pro13828fs)
|
rs876657664
|
|
|
NM_001267550.2(TTN):c.41542G>A (p.Gly13848Arg)
|
rs1553746427
|
|
|
NM_001267550.2(TTN):c.41548T>C (p.Tyr13850His)
|
rs774281208
|
|
|
NM_001267550.2(TTN):c.41581G>T (p.Glu13861Ter)
|
rs2154230108
|
|
|
NM_001267550.2(TTN):c.41582A>C (p.Glu13861Ala)
|
rs1553746267
|
|
|
NM_001267550.2(TTN):c.41608+4A>C
|
rs2154230052
|
|
|
NM_001267550.2(TTN):c.41609-2A>C
|
rs730880244
|
|
|
NM_001267550.2(TTN):c.41609-2A>G
|
rs730880244
|
|
|
NM_001267550.2(TTN):c.41768T>A (p.Ile13923Lys)
|
rs1553745511
|
|
|
NM_001267550.2(TTN):c.41793C>A (p.Tyr13931Ter)
|
rs794729380
|
|
|
NM_001267550.2(TTN):c.41794del (p.Leu13932fs)
|
rs2060330825
|
|
|
NM_001267550.2(TTN):c.41817del (p.Glu13940fs)
|
rs2154229464
|
|
|
NM_001267550.2(TTN):c.4195G>T (p.Val1399Leu)
|
rs1554011657
|
|
|
NM_001267550.2(TTN):c.41962_41963del (p.Ile13988fs)
|
|
|
|
NM_001267550.2(TTN):c.42003A>T (p.Gly14001=)
|
rs1553744821
|
|
|
NM_001267550.2(TTN):c.42024+1G>C
|
rs2154228980
|
|
|
NM_001267550.2(TTN):c.42024del (p.Thr14009fs)
|
rs2060282891
|
|
|
NM_001267550.2(TTN):c.42046G>A (p.Gly14016Ser)
|
rs367751077
|
|
|
NM_001267550.2(TTN):c.42054dup (p.Arg14019fs)
|
rs1559977271
|
|
|
NM_001267550.2(TTN):c.42097G>T (p.Glu14033Ter)
|
rs2154228367
|
|
|
NM_001267550.2(TTN):c.42103C>T (p.Leu14035Phe)
|
rs1433887768
|
|
|
NM_001267550.2(TTN):c.42108C>G (p.Tyr14036Ter)
|
rs1311474144
|
|
|
NM_001267550.2(TTN):c.42151+3A>G
|
rs770439451
|
|
|
NM_001267550.2(TTN):c.42152-7_42153del
|
rs1559975119
|
|
|
NM_001267550.2(TTN):c.4216_4219del (p.Ser1406fs)
|
rs2154346896
|
|
|
NM_001267550.2(TTN):c.42181A>T (p.Lys14061Ter)
|
|
|
|
NM_001267550.2(TTN):c.4218_4219del (p.Pro1407fs)
|
|
|
|
NM_001267550.2(TTN):c.42202dup (p.Arg14068fs)
|
rs1559974529
|
|
|
NM_001267550.2(TTN):c.42205C>T (p.Arg14069Ter)
|
rs2060187635
|
|
|
NM_001267550.2(TTN):c.42235C>T (p.Arg14079Ter)
|
rs745926057
|
|
|
NM_001267550.2(TTN):c.42235del (p.Arg14079fs)
|
rs2154227519
|
|
|
NM_001267550.2(TTN):c.42281C>G (p.Ser14094Ter)
|
|
|
|
NM_001267550.2(TTN):c.42319_42322dup (p.Ile14108fs)
|
rs2060173229
|
|
|
NM_001267550.2(TTN):c.42343C>T (p.Gln14115Ter)
|
rs2060169705
|
|
|
NM_001267550.2(TTN):c.42355dup (p.Glu14119fs)
|
|
|
|
NM_001267550.2(TTN):c.42382G>A (p.Gly14128Ser)
|
rs1553743503
|
|
|
NM_001267550.2(TTN):c.42445_42446insTTT (p.Glu14149delinsValTer)
|
rs2060125843
|
|
|
NM_001267550.2(TTN):c.42447A>G (p.Glu14149=)
|
rs879241728
|
|
|
NM_001267550.2(TTN):c.42474del (p.Ala14159fs)
|
rs2060122241
|
|
|
NM_001267550.2(TTN):c.42484del (p.Val14162fs)
|
|
|
|
NM_001267550.2(TTN):c.42540del (p.Lys14180fs)
|
|
|
|
NM_001267550.2(TTN):c.42598_42599insG (p.Met14200fs)
|
rs1553742630
|
|
|
NM_001267550.2(TTN):c.42636del (p.Ala14213fs)
|
rs869312106
|
|
|
NM_001267550.2(TTN):c.42639dup (p.Gln14214fs)
|
rs2060106818
|
|
|
NM_001267550.2(TTN):c.42646A>T (p.Lys14216Ter)
|
|
|
|
NM_001267550.2(TTN):c.42682G>C (p.Glu14228Gln)
|
|
|
|
NM_001267550.2(TTN):c.42695del (p.Tyr14232fs)
|
|
|
|
NM_001267550.2(TTN):c.42714T>G (p.His14238Gln)
|
rs1438979717
|
|
|
NM_001267550.2(TTN):c.42785G>A (p.Trp14262Ter)
|
rs886042681
|
|
|
NM_001267550.2(TTN):c.427G>T (p.Glu143Ter)
|
|
|
|
NM_001267550.2(TTN):c.42822del (p.Lys14274fs)
|
rs2060064534
|
|
|
NM_001267550.2(TTN):c.42869A>C (p.Lys14290Thr)
|
rs1060500499
|
|
|
NM_001267550.2(TTN):c.42897T>A (p.Tyr14299Ter)
|
|
|
|
NM_001267550.2(TTN):c.42946+1G>T
|
rs1553741531
|
|
|
NM_001267550.2(TTN):c.42949C>T (p.Arg14317Ter)
|
rs376799532
|
|
|
NM_001267550.2(TTN):c.42978C>A (p.Tyr14326Ter)
|
|
|
|
NM_001267550.2(TTN):c.42993del (p.Phe14331fs)
|
|
|
|
NM_001267550.2(TTN):c.43018del (p.Ile14340fs)
|
|
|
|
NM_001267550.2(TTN):c.4301del (p.Pro1434fs)
|
|
|
|
NM_001267550.2(TTN):c.43086+3A>G
|
rs2060017452
|
|
|
NM_001267550.2(TTN):c.43086+5G>A
|
|
|
|
NM_001267550.2(TTN):c.43122del (p.Ile14374_Leu14375insTer)
|
rs1203006457
|
|
|
NM_001267550.2(TTN):c.43133A>G (p.His14378Arg)
|
rs878854307
|
|
|
NM_001267550.2(TTN):c.43141C>T (p.Gln14381Ter)
|
rs754568652
|
|
|
NM_001267550.2(TTN):c.43195_43198del (p.Ala14399fs)
|
|
|
|
NM_001267550.2(TTN):c.43211A>C (p.Lys14404Thr)
|
rs1296402152
|
|
|
NM_001267550.2(TTN):c.43213+1G>A
|
|
|
|
NM_001267550.2(TTN):c.43213+1G>T
|
|
|
|
NM_001267550.2(TTN):c.43214-1G>C
|
|
|
|
NM_001267550.2(TTN):c.43214-2A>G
|
|
|
|
NM_001267550.2(TTN):c.4322G>A (p.Arg1441His)
|
rs72647876
|
|
|
NM_001267550.2(TTN):c.43253_43254del (p.Lys14418fs)
|
rs2059956960
|
|
|
NM_001267550.2(TTN):c.43288del (p.Glu14430fs)
|
|
|
|
NM_001267550.2(TTN):c.432_442del (p.Ile144_Gln145insTer)
|
|
|
|
NM_001267550.2(TTN):c.4330del (p.Glu1444fs)
|
|
|
|
NM_001267550.2(TTN):c.43316del (p.Arg14439fs)
|
|
|
|
NM_001267550.2(TTN):c.43319G>A (p.Trp14440Ter)
|
|
|
|
NM_001267550.2(TTN):c.43351G>A (p.Asp14451Asn)
|
rs768931150
|
|
|
NM_001267550.2(TTN):c.43372del (p.Asp14458fs)
|
rs794729314
|
|
|
NM_001267550.2(TTN):c.43418del (p.Asp14473fs)
|
|
|
|
NM_001267550.2(TTN):c.43422A>T (p.Glu14474Asp)
|
rs998106657
|
|
|
NM_001267550.2(TTN):c.43431C>G (p.Tyr14477Ter)
|
rs1559955466
|
|
|
NM_001267550.2(TTN):c.43446del (p.Asp14483fs)
|
rs2154221841
|
|
|
NM_001267550.2(TTN):c.43474del (p.Ile14492fs)
|
rs2059934937
|
|
|
NM_001267550.2(TTN):c.43480+4_43480+5del
|
|
|
|
NM_001267550.2(TTN):c.43483del (p.Ile14495fs)
|
rs2059913524
|
|
|
NM_001267550.2(TTN):c.43538del (p.Ser14513fs)
|
|
|
|
NM_001267550.2(TTN):c.43563_43575del (p.His14522fs)
|
|
|
|
NM_001267550.2(TTN):c.43576C>T (p.Arg14526Ter)
|
rs2154220622
|
|
|
NM_001267550.2(TTN):c.43652dup (p.His14551fs)
|
|
|
|
NM_001267550.2(TTN):c.43655C>A (p.Ser14552Ter)
|
|
|
|
NM_001267550.2(TTN):c.43666A>G (p.Lys14556Glu)
|
rs1553738199
|
|
|
NM_001267550.2(TTN):c.43693C>T (p.Gln14565Ter)
|
|
|
|
NM_001267550.2(TTN):c.43710dup (p.Met14571fs)
|
rs2154220574
|
|
|
NM_001267550.2(TTN):c.43747+5G>A
|
rs878854308
|
|
|
NM_001267550.2(TTN):c.43747+5G>C
|
rs878854308
|
|
|
NM_001267550.2(TTN):c.43748-1G>A
|
rs794729259
|
|
|
NM_001267550.2(TTN):c.43750G>T (p.Gly14584Ter)
|
rs2154220286
|
|
|
NM_001267550.2(TTN):c.43777dup (p.Gln14593fs)
|
|
|
|
NM_001267550.2(TTN):c.4385_4386delinsG (p.Lys1462fs)
|
rs2092387027
|
|
|
NM_001267550.2(TTN):c.43861del (p.Asp14621fs)
|
|
|
|
NM_001267550.2(TTN):c.43911C>T (p.Gly14637=)
|
|
|
|
NM_001267550.2(TTN):c.43913A>G (p.Lys14638Arg)
|
rs878896650
|
|
|
NM_001267550.2(TTN):c.4413del (p.Gln1472fs)
|
rs2092384255
|
|
|
NM_001267550.2(TTN):c.44154+1G>C
|
|
|
|
NM_001267550.2(TTN):c.44154+4A>T
|
rs1576670482
|
|
|
NM_001267550.2(TTN):c.44154+5G>A
|
rs2154220094
|
|
|
NM_001267550.2(TTN):c.44184A>G (p.Ile14728Met)
|
rs572315033
|
|
|
NM_001267550.2(TTN):c.44191C>T (p.Leu14731Phe)
|
rs771361227
|
|
|
NM_001267550.2(TTN):c.44210G>A (p.Arg14737His)
|
rs373298007
|
|
|
NM_001267550.2(TTN):c.44247del (p.Asn14750fs)
|
rs2059639706
|
|
|
NM_001267550.2(TTN):c.44249del (p.Asn14750fs)
|
rs2154219900
|
|
|
NM_001267550.2(TTN):c.44281+1G>A
|
rs771562210
|
|
|
NM_001267550.2(TTN):c.44281+1del
|
|
|
|
NM_001267550.2(TTN):c.44281+2dup
|
rs773570018
|
|
|
NM_001267550.2(TTN):c.44281+5G>A
|
rs2059634223
|
|
|
NM_001267550.2(TTN):c.44284C>T (p.Arg14762Ter)
|
rs770767998
|
|
|
NM_001267550.2(TTN):c.44285G>C (p.Arg14762Pro)
|
rs727505019
|
|
|
NM_001267550.2(TTN):c.44289_44290del (p.Ile14764fs)
|
rs2059501959
|
|
|
NM_001267550.2(TTN):c.44294dup (p.Leu14766fs)
|
|
|
|
NM_001267550.2(TTN):c.44335G>C (p.Glu14779Gln)
|
rs1262894259
|
|
|
NM_001267550.2(TTN):c.44364del (p.Tyr14789fs)
|
rs397517576
|
|
|
NM_001267550.2(TTN):c.44375T>A (p.Ile14792Asn)
|
rs747654057
|
|
|
NM_001267550.2(TTN):c.44378del (p.Pro14793fs)
|
rs1064796121
|
|
|
NM_001267550.2(TTN):c.44400del (p.Lys14801fs)
|
rs727503628
|
|
|
NM_001267550.2(TTN):c.44404_44424+8del
|
rs2154219379
|
|
|
NM_001267550.2(TTN):c.44413C>G (p.Pro14805Ala)
|
rs753926213
|
|
|
NM_001267550.2(TTN):c.44415dup (p.Ser14806fs)
|
rs2154219387
|
|
|
NM_001267550.2(TTN):c.44438C>G (p.Ser14813Ter)
|
|
|
|
NM_001267550.2(TTN):c.44472T>G (p.Asp14824Glu)
|
rs377441854
|
|
|
NM_001267550.2(TTN):c.44481AGA[1] (p.Glu14828del)
|
rs727505315
|
|
|
NM_001267550.2(TTN):c.44494del (p.Glu14832fs)
|
rs1553725355
|
|
|
NM_001267550.2(TTN):c.44537del (p.Leu14846fs)
|
rs2058861849
|
|
|
NM_001267550.2(TTN):c.44540_44541del (p.Phe14847fs)
|
|
|
|
NM_001267550.2(TTN):c.44580G>C (p.Glu14860Asp)
|
rs1060500475
|
|
|
NM_001267550.2(TTN):c.44584C>T (p.Gln14862Ter)
|
|
|
|
NM_001267550.2(TTN):c.44603_44633del (p.Ala14868fs)
|
|
|
|
NM_001267550.2(TTN):c.44683del (p.Ser14895fs)
|
rs886044263
|
|
|
NM_001267550.2(TTN):c.44736T>A (p.His14912Gln)
|
rs762830792
|
|
|
NM_001267550.2(TTN):c.44743A>G (p.Thr14915Ala)
|
rs878854310
|
|
|
NM_001267550.2(TTN):c.4480+1G>A
|
rs766581255
|
|
|
NM_001267550.2(TTN):c.4480+1G>T
|
rs766581255
|
|
|
NM_001267550.2(TTN):c.4480G>T (p.Gly1494Cys)
|
|
|
|
NM_001267550.2(TTN):c.44815+1G>A
|
rs1274007753
|
|
|
NM_001267550.2(TTN):c.44815+2_44815+3insTT
|
rs786205392
|
|
|
NM_001267550.2(TTN):c.44850C>A (p.Asp14950Glu)
|
rs371376631
|
|
|
NM_001267550.2(TTN):c.44854C>T (p.Gln14952Ter)
|
rs2154213117
|
|
|
NM_001267550.2(TTN):c.44869G>T (p.Glu14957Ter)
|
|
|
|
NM_001267550.2(TTN):c.44878C>T (p.Arg14960Ter)
|
rs2058478213
|
|
|
NM_001267550.2(TTN):c.4487_4488insT (p.Gln1496fs)
|
rs1554009454
|
|
|
NM_001267550.2(TTN):c.44889_44890dup (p.Glu14964fs)
|
rs2154213095
|
|
|
NM_001267550.2(TTN):c.44906del (p.Asn14969fs)
|
|
|
|
NM_001267550.2(TTN):c.44913+1G>T
|
rs1553721106
|
|
|
NM_001267550.2(TTN):c.44913G>C (p.Lys14971Asn)
|
rs757693661
|
|
|
NM_001267550.2(TTN):c.44969del (p.Ile14990fs)
|
rs2154212465
|
|
|
NM_001267550.2(TTN):c.44993T>C (p.Leu14998Pro)
|
rs1553719829
|
|
|
NM_001267550.2(TTN):c.45001A>C (p.Asn15001His)
|
rs373109469
|
|
|
NM_001267550.2(TTN):c.45052G>C (p.Ala15018Pro)
|
rs1060500472
|
|
|
NM_001267550.2(TTN):c.45055A>T (p.Arg15019Ter)
|
rs2154212373
|
|
|
NM_001267550.2(TTN):c.45082+4A>T
|
|
|
|
NM_001267550.2(TTN):c.45082+5G>A
|
rs2058337645
|
|
|
NM_001267550.2(TTN):c.45083-1G>A
|
|
|
|
NM_001267550.2(TTN):c.45090del (p.Ala15031fs)
|
|
|
|
NM_001267550.2(TTN):c.45100dup (p.Thr15034fs)
|
rs2154212181
|
|
|
NM_001267550.2(TTN):c.45192del (p.Trp15063_Tyr15064insTer)
|
rs1553718908
|
|
|
NM_001267550.2(TTN):c.45221del (p.Gly15074fs)
|
rs2058288753
|
|
|
NM_001267550.2(TTN):c.45316_45320dup (p.Arg15108fs)
|
rs794729390
|
|
|
NM_001267550.2(TTN):c.45349+1G>A
|
rs2154211977
|
|
|
NM_001267550.2(TTN):c.45349+1G>T
|
|
|
|
NM_001267550.2(TTN):c.45349+3A>G
|
rs1553718424
|
|
|
NM_001267550.2(TTN):c.45350-1G>C
|
rs2058237051
|
|
|
NM_001267550.2(TTN):c.45355del (p.Ala15119fs)
|
|
|
|
NM_001267550.2(TTN):c.4537C>T (p.Gln1513Ter)
|
rs2092360420
|
|
|
NM_001267550.2(TTN):c.45431C>A (p.Ser15144Ter)
|
|
|
|
NM_001267550.2(TTN):c.45449T>G (p.Val15150Gly)
|
rs1060500496
|
|
|
NM_001267550.2(TTN):c.45483_45495del (p.Gly15162fs)
|
|
|
|
NM_001267550.2(TTN):c.45495T>G (p.Tyr15165Ter)
|
|
|
|
NM_001267550.2(TTN):c.45535A>T (p.Lys15179Ter)
|
rs1559877046
|
|
|
NM_001267550.2(TTN):c.45564_45567dup (p.Val15190fs)
|
rs2154211664
|
|
|
NM_001267550.2(TTN):c.45583del (p.Ala15195fs)
|
rs2154211651
|
|
|
NM_001267550.2(TTN):c.45601C>G (p.His15201Asp)
|
rs794729438
|
|
|
NM_001267550.2(TTN):c.45602_45605del (p.His15201fs)
|
|
|
|
NM_001267550.2(TTN):c.45610_45613dup (p.Ile15205fs)
|
rs2058205143
|
|
|
NM_001267550.2(TTN):c.45667C>T (p.Gln15223Ter)
|
|
|
|
NM_001267550.2(TTN):c.45674_45675del (p.Val15225fs)
|
rs1232518763
|
|
|
NM_001267550.2(TTN):c.45719G>A (p.Trp15240Ter)
|
rs2058162241
|
|
|
NM_001267550.2(TTN):c.45724A>T (p.Arg15242Ter)
|
|
|
|
NM_001267550.2(TTN):c.45730G>T (p.Glu15244Ter)
|
rs2058161147
|
|
|
NM_001267550.2(TTN):c.45737C>T (p.Ala15246Val)
|
rs370233278
|
|
|
NM_001267550.2(TTN):c.45769C>T (p.Gln15257Ter)
|
rs2154211378
|
|
|
NM_001267550.2(TTN):c.45787_45793del (p.Thr15263fs)
|
|
|
|
NM_001267550.2(TTN):c.45809_45810del (p.His15270fs)
|
rs2154211339
|
|
|
NM_001267550.2(TTN):c.45814del (p.Asp15272fs)
|
rs1576550450
|
|
|
NM_001267550.2(TTN):c.45837_45838del (p.Ser15280fs)
|
rs2058146182
|
|
|
NM_001267550.2(TTN):c.45852_45853del (p.His15284fs)
|
rs1266824761
|
|
|
NM_001267550.2(TTN):c.45895+1G>T
|
rs727504589
|
|
|
NM_001267550.2(TTN):c.45895+5G>C
|
rs1206842325
|
|
|
NM_001267550.2(TTN):c.45940A>T (p.Met15314Leu)
|
rs1391292606
|
|
|
NM_001267550.2(TTN):c.45989dup (p.Thr15331fs)
|
rs1553715911
|
|
|
NM_001267550.2(TTN):c.46017dup (p.Glu15340fs)
|
|
|
|
NM_001267550.2(TTN):c.46061A>G (p.Tyr15354Cys)
|
rs886038861
|
|
|
NM_001267550.2(TTN):c.46078_46092del (p.Ile15360_Gly15364del)
|
rs727505075
|
|
|
NM_001267550.2(TTN):c.46164del (p.Ala15389fs)
|
|
|
|
NM_001267550.2(TTN):c.46197_46198insGAACCCTT (p.Gln15400fs)
|
|
|
|
NM_001267550.2(TTN):c.46201_46204del (p.Thr15401fs)
|
|
|
|
NM_001267550.2(TTN):c.46205T>C (p.Val15402Ala)
|
rs1559868004
|
|
|
NM_001267550.2(TTN):c.46211A>G (p.Glu15404Gly)
|
rs878854311
|
|
|
NM_001267550.2(TTN):c.4621A>G (p.Ile1541Val)
|
rs1060500580
|
|
|
NM_001267550.2(TTN):c.46236C>A (p.Cys15412Ter)
|
rs368200299
|
|
|
NM_001267550.2(TTN):c.46237C>T (p.Gln15413Ter)
|
|
|
|
NM_001267550.2(TTN):c.46272C>A (p.Tyr15424Ter)
|
rs879139686
|
|
|
NM_001267550.2(TTN):c.46285G>T (p.Glu15429Ter)
|
rs1576543528
|
|
|
NM_001267550.2(TTN):c.46304+1G>T
|
|
|
|
NM_001267550.2(TTN):c.46304+3A>T
|
rs866285912
|
|
|
NM_001267550.2(TTN):c.46304+5G>A
|
rs398124452
|
|
|
NM_001267550.2(TTN):c.46305-1G>C
|
rs1553714845
|
|
|
NM_001267550.2(TTN):c.46309A>T (p.Lys15437Ter)
|
rs2154210717
|
|
|
NM_001267550.2(TTN):c.46335_46336del (p.His15445fs)
|
|
|
|
NM_001267550.2(TTN):c.46344_46348dup (p.Lys15450delinsIleTer)
|
|
|
|
NM_001267550.2(TTN):c.46374_46375dup (p.Glu15459fs)
|
rs2154210696
|
|
|
NM_001267550.2(TTN):c.46385_46406dup (p.Ala15471fs)
|
|
|
|
NM_001267550.2(TTN):c.46397dup (p.Asp15466fs)
|
|
|
|
NM_001267550.2(TTN):c.46399dup (p.Arg15467fs)
|
rs1060500443
|
|
|
NM_001267550.2(TTN):c.46407_46410dup (p.Ala15471fs)
|
rs2058029089
|
|
|
NM_001267550.2(TTN):c.46429+1G>T
|
rs2154210677
|
|
|
NM_001267550.2(TTN):c.46429+2T>C
|
|
|
|
NM_001267550.2(TTN):c.4642G>T (p.Glu1548Ter)
|
|
|
|
NM_001267550.2(TTN):c.46430-2A>G
|
|
|
|
NM_001267550.2(TTN):c.46459C>T (p.Gln15487Ter)
|
rs2058001839
|
|
|
NM_001267550.2(TTN):c.4646-5T>A
|
rs750400475
|
|
|
NM_001267550.2(TTN):c.46514_46517dup (p.Asp15506fs)
|
|
|
|
NM_001267550.2(TTN):c.4651G>A (p.Glu1551Lys)
|
rs762008835
|
|
|
NM_001267550.2(TTN):c.46550T>C (p.Met15517Thr)
|
rs1349699547
|
|
|
NM_001267550.2(TTN):c.46565del (p.Gly15522fs)
|
rs2057989087
|
|
|
NM_001267550.2(TTN):c.46569T>A (p.Asp15523Glu)
|
rs1553713980
|
|
|
NM_001267550.2(TTN):c.46623del (p.Lys15542fs)
|
|
|
|
NM_001267550.2(TTN):c.46639_46643dup (p.Tyr15549fs)
|
|
|
|
NM_001267550.2(TTN):c.46653_46656dup (p.Ala15553fs)
|
rs2154210554
|
|
|
NM_001267550.2(TTN):c.46668_46671del (p.Glu15557fs)
|
|
|
|
NM_001267550.2(TTN):c.46696+1G>T
|
rs1064796987
|
|
|
NM_001267550.2(TTN):c.46696+4A>G
|
rs1553713646
|
|
|
NM_001267550.2(TTN):c.46697-1G>T
|
rs2154209955
|
|
|
NM_001267550.2(TTN):c.46723C>T (p.Gln15575Ter)
|
|
|
|
NM_001267550.2(TTN):c.46724_46725delinsC (p.Gln15575fs)
|
rs1559855146
|
|
|
NM_001267550.2(TTN):c.46732G>C (p.Val15578Leu)
|
rs1553712552
|
|
|
NM_001267550.2(TTN):c.46736_46745del (p.Val15579fs)
|
|
|
|
NM_001267550.2(TTN):c.46753_46754del (p.Leu15585fs)
|
rs2154209917
|
|
|
NM_001267550.2(TTN):c.46788del (p.Ala15597fs)
|
rs2154209882
|
|
|
NM_001267550.2(TTN):c.46803G>A (p.Trp15601Ter)
|
rs1576521473
|
|
|
NM_001267550.2(TTN):c.46810G>T (p.Glu15604Ter)
|
rs749463044
|
|
|
NM_001267550.2(TTN):c.46810_46814del (p.Lys15603_Glu15604insTer)
|
|
|
|
NM_001267550.2(TTN):c.46823del (p.Leu15608fs)
|
rs2154209855
|
|
|
NM_001267550.2(TTN):c.46831_46837dup (p.Ile15613fs)
|
|
|
|
NM_001267550.2(TTN):c.46895_46898del (p.Lys15632fs)
|
rs1553712148
|
|
|
NM_001267550.2(TTN):c.468C>T (p.Gly156=)
|
|
|
|
NM_001267550.2(TTN):c.46939G>T (p.Glu15647Ter)
|
|
|
|
NM_001267550.2(TTN):c.46943G>A (p.Gly15648Glu)
|
rs1060500413
|
|
|
NM_001267550.2(TTN):c.46966+1G>A
|
|
|
|
NM_001267550.2(TTN):c.46966G>A (p.Asp15656Asn)
|
rs727504572
|
|
|
NM_001267550.2(TTN):c.47123C>G (p.Thr15708Arg)
|
rs1553711574
|
|
|
NM_001267550.2(TTN):c.47177T>C (p.Val15726Ala)
|
rs1553711371
|
|
|
NM_001267550.2(TTN):c.47289G>T (p.Leu15763Phe)
|
rs1553710788
|
|
|
NM_001267550.2(TTN):c.47394_47411del (p.Asp15799_Arg15804del)
|
rs398124453
|
|
|
NM_001267550.2(TTN):c.47515A>G (p.Ile15839Val)
|
rs1553710021
|
|
|
NM_001267550.2(TTN):c.47537C>T (p.Ala15846Val)
|
rs1183139911
|
|
|
NM_001267550.2(TTN):c.47626G>A (p.Val15876Ile)
|
rs766025438
|
|
|
NM_001267550.2(TTN):c.4766G>A (p.Trp1589Ter)
|
|
|
|
NM_001267550.2(TTN):c.47757C>T (p.Tyr15919=)
|
rs1060500551
|
|
|
NM_001267550.2(TTN):c.47761-7A>G
|
rs1365533381
|
|
|
NM_001267550.2(TTN):c.47875+4_47875+7del
|
rs753206674
|
|
|
NM_001267550.2(TTN):c.47875+9A>G
|
rs1553708222
|
|
|
NM_001267550.2(TTN):c.47900C>A (p.Ala15967Glu)
|
rs1553707943
|
|
|
NM_001267550.2(TTN):c.48052G>A (p.Ala16018Thr)
|
rs1451009964
|
|
|
NM_001267550.2(TTN):c.48106A>C (p.Lys16036Gln)
|
rs886055271
|
|
|
NM_001267550.2(TTN):c.4814+3A>C
|
rs567197047
|
|
|
NM_001267550.2(TTN):c.4814+6T>C
|
|
|
|
NM_001267550.2(TTN):c.48160G>A (p.Ala16054Thr)
|
rs1576492463
|
|
|
NM_001267550.2(TTN):c.48311A>C (p.Lys16104Thr)
|
rs1060500396
|
|
|
NM_001267550.2(TTN):c.48312+2dup
|
rs776497397
|
|
|
NM_001267550.2(TTN):c.48312+5G>A
|
|
|
|
NM_001267550.2(TTN):c.48378_48380del (p.Leu16126del)
|
rs561618839
|
|
|
NM_001267550.2(TTN):c.48399C>A (p.Asn16133Lys)
|
rs1060500470
|
|
|
NM_001267550.2(TTN):c.48557G>A (p.Arg16186His)
|
rs769784536
|
|
|
NM_001267550.2(TTN):c.48557G>T (p.Arg16186Leu)
|
rs769784536
|
|
|
NM_001267550.2(TTN):c.48590G>A (p.Arg16197His)
|
rs369826752
|
|
|
NM_001267550.2(TTN):c.48638+5G>T
|
rs397517594
|
|
|
NM_001267550.2(TTN):c.48638+5del
|
rs2057135287
|
|
|
NM_001267550.2(TTN):c.48639-3C>A
|
rs923663993
|
|
|
NM_001267550.2(TTN):c.48668A>C (p.Lys16223Thr)
|
rs1553704101
|
|
|
NM_001267550.2(TTN):c.48727C>A (p.Pro16243Thr)
|
rs72677242
|
|
|
NM_001267550.2(TTN):c.48760G>C (p.Glu16254Gln)
|
|
|
|
NM_001267550.2(TTN):c.4880G>A (p.Trp1627Ter)
|
rs767755367
|
|
|
NM_001267550.2(TTN):c.48850G>A (p.Gly16284Arg)
|
rs368527534
|
|
|
NM_001267550.2(TTN):c.48862C>T (p.Pro16288Ser)
|
rs894986526
|
|
|
NM_001267550.2(TTN):c.48971G>T (p.Ser16324Ile)
|
rs878948684
|
|
|
NM_001267550.2(TTN):c.489dup (p.Ala164fs)
|
rs1574990483
|
|
|
NM_001267550.2(TTN):c.49048+4A>G
|
rs766931932
|
|
|
NM_001267550.2(TTN):c.4910del (p.Gly1637fs)
|
rs886044013
|
|
|
NM_001267550.2(TTN):c.49174G>A (p.Ala16392Thr)
|
rs794729446
|
|
|
NM_001267550.2(TTN):c.49175C>A (p.Ala16392Glu)
|
rs750310775
|
|
|
NM_001267550.2(TTN):c.49241A>G (p.Lys16414Arg)
|
rs1329659749
|
|
|
NM_001267550.2(TTN):c.49345+3A>G
|
rs2056845605
|
|
|
NM_001267550.2(TTN):c.49388C>A (p.Thr16463Asn)
|
rs541307234
|
|
|
NM_001267550.2(TTN):c.49488A>G (p.Lys16496=)
|
rs1553701108
|
|
|
NM_001267550.2(TTN):c.4991G>A (p.Arg1664Gln)
|
|
|
|
NM_001267550.2(TTN):c.4995del (p.Thr1666fs)
|
rs2154346335
|
|
|
NM_001267550.2(TTN):c.49964C>A (p.Pro16655Gln)
|
|
|
|
NM_001267550.2(TTN):c.5001T>G (p.Tyr1667Ter)
|
|
|
|
NM_001267550.2(TTN):c.5003G>A (p.Arg1668Lys)
|
rs1554008153
|
|
|
NM_001267550.2(TTN):c.50189C>T (p.Ala16730Val)
|
rs763483590
|
|
|
NM_001267550.2(TTN):c.501C>G (p.Tyr167Ter)
|
|
|
|
NM_001267550.2(TTN):c.50441C>G (p.Thr16814Ser)
|
rs1559783698
|
|
|
NM_001267550.2(TTN):c.5047C>T (p.Arg1683Ter)
|
rs587780490
|
|
|
NM_001267550.2(TTN):c.5073dup (p.Gly1692fs)
|
|
|
|
NM_001267550.2(TTN):c.50749G>A (p.Gly16917Ser)
|
rs1553696081
|
|
|
NM_001267550.2(TTN):c.50811C>T (p.Ser16937=)
|
rs780845171
|
|
|
NM_001267550.2(TTN):c.50869A>G (p.Ile16957Val)
|
rs372013419
|
|
|
NM_001267550.2(TTN):c.51136+3A>G
|
|
|
|
NM_001267550.2(TTN):c.51338C>A (p.Pro17113Gln)
|
rs763635220
|
|
|
NM_001267550.2(TTN):c.51366A>T (p.Lys17122Asn)
|
rs1553693116
|
|
|
NM_001267550.2(TTN):c.51436+5G>C
|
rs2055951790
|
|
|
NM_001267550.2(TTN):c.51454G>A (p.Val17152Ile)
|
rs1553692607
|
|
|
NM_001267550.2(TTN):c.51633A>T (p.Gly17211=)
|
rs879091553
|
|
|
NM_001267550.2(TTN):c.51634C>T (p.Leu17212Phe)
|
rs1473716049
|
|
|
NM_001267550.2(TTN):c.5172C>A (p.Cys1724Ter)
|
rs2154346258
|
|
|
NM_001267550.2(TTN):c.51739+3A>G
|
|
|
|
NM_001267550.2(TTN):c.51928GAA[2] (p.Glu17312del)
|
rs780745206
|
|
|
NM_001267550.2(TTN):c.51938C>A (p.Pro17313Gln)
|
rs372927085
|
|
|
NM_001267550.2(TTN):c.51947T>G (p.Leu17316Arg)
|
rs368529230
|
|
|
NM_001267550.2(TTN):c.51986A>T (p.Lys17329Met)
|
rs1060500490
|
|
|
NM_001267550.2(TTN):c.5204del (p.Val1735fs)
|
|
|
|
NM_001267550.2(TTN):c.52085G>A (p.Cys17362Tyr)
|
rs1553690569
|
|
|
NM_001267550.2(TTN):c.52102+5G>C
|
rs886042399
|
|
|
NM_001267550.2(TTN):c.52112G>A (p.Gly17371Glu)
|
rs794729455
|
|
|
NM_001267550.2(TTN):c.52385T>A (p.Leu17462His)
|
rs1216814159
|
|
|
NM_001267550.2(TTN):c.52524A>T (p.Lys17508Asn)
|
rs1060500466
|
|
|
NM_001267550.2(TTN):c.52530_52535del (p.Glu17510_Asn17512delinsAsp)
|
rs1553688489
|
|
|
NM_001267550.2(TTN):c.52607_52609del (p.Glu17536del)
|
rs755947249
|
|
|
NM_001267550.2(TTN):c.5260A>G (p.Ile1754Val)
|
rs780379544
|
|
|
NM_001267550.2(TTN):c.52629A>G (p.Arg17543=)
|
rs748001472
|
|
|
NM_001267550.2(TTN):c.52859C>G (p.Thr17620Arg)
|
rs1559743128
|
|
|
NM_001267550.2(TTN):c.53060G>A (p.Gly17687Glu)
|
rs780672348
|
|
|
NM_001267550.2(TTN):c.5309G>A (p.Arg1770Lys)
|
rs1554007509
|
|
|
NM_001267550.2(TTN):c.53122_53123delinsGT (p.Lys17708Val)
|
rs886042743
|
|
|
NM_001267550.2(TTN):c.53287+4A>C
|
rs2055151641
|
|
|
NM_001267550.2(TTN):c.53287G>C (p.Asp17763His)
|
rs2055154464
|
|
|
NM_001267550.2(TTN):c.53357C>A (p.Ser17786Tyr)
|
rs1060500485
|
|
|
NM_001267550.2(TTN):c.53581G>A (p.Gly17861Ser)
|
rs1576357395
|
|
|
NM_001267550.2(TTN):c.53609C>T (p.Thr17870Ile)
|
rs1553683359
|
|
|
NM_001267550.2(TTN):c.53641C>G (p.Leu17881Val)
|
rs771801125
|
|
|
NM_001267550.2(TTN):c.53641C>T (p.Leu17881Phe)
|
rs771801125
|
|
|
NM_001267550.2(TTN):c.53659C>T (p.Arg17887Cys)
|
rs771307468
|
|
|
NM_001267550.2(TTN):c.53663G>C (p.Ser17888Thr)
|
rs778009539
|
|
|
NM_001267550.2(TTN):c.53881+5G>T
|
rs753527304
|
|
|
NM_001267550.2(TTN):c.53881+6G>A
|
rs1553682704
|
|
|
NM_001267550.2(TTN):c.538A>C (p.Asn180His)
|
rs864622712
|
|
|
NM_001267550.2(TTN):c.53903G>C (p.Arg17968Pro)
|
rs200100660
|
|
|
NM_001267550.2(TTN):c.5395dup (p.Ser1799fs)
|
rs1064796474
|
|
|
NM_001267550.2(TTN):c.53965G>A (p.Asp17989Asn)
|
rs1060500481
|
|
|
NM_001267550.2(TTN):c.54148C>G (p.Arg18050Gly)
|
rs55734111
|
|
|
NM_001267550.2(TTN):c.54290T>C (p.Ile18097Thr)
|
rs1553681465
|
|
|
NM_001267550.2(TTN):c.5446del (p.Ile1816fs)
|
|
|
|
NM_001267550.2(TTN):c.54496C>T (p.Leu18166Phe)
|
rs878953621
|
|
|
NM_001267550.2(TTN):c.54600C>G (p.Gly18200=)
|
|
|
|
NM_001267550.2(TTN):c.5468C>T (p.Ala1823Val)
|
rs1554007106
|
|
|
NM_001267550.2(TTN):c.54727C>G (p.Gln18243Glu)
|
rs372447571
|
|
|
NM_001267550.2(TTN):c.54935AAG[2] (p.Glu18314del)
|
rs1553675991
|
|
|
NM_001267550.2(TTN):c.54976G>C (p.Asp18326His)
|
rs1553675887
|
|
|
NM_001267550.2(TTN):c.5513del (p.Lys1838fs)
|
rs1554007001
|
|
|
NM_001267550.2(TTN):c.5519del (p.Lys1840fs)
|
|
|
|
NM_001267550.2(TTN):c.55269+3A>G
|
|
|
|
NM_001267550.2(TTN):c.55271A>G (p.Asp18424Gly)
|
rs1553674352
|
|
|
NM_001267550.2(TTN):c.55303-1G>A
|
rs748369265
|
|
|
NM_001267550.2(TTN):c.5539C>T (p.Pro1847Ser)
|
rs138778559
|
|
|
NM_001267550.2(TTN):c.55432+5G>A
|
|
|
|
NM_001267550.2(TTN):c.55433-4A>G
|
rs1451088765
|
|
|
NM_001267550.2(TTN):c.55485T>G (p.Ser18495Arg)
|
rs1213190093
|
|
|
NM_001267550.2(TTN):c.55522G>A (p.Gly18508Arg)
|
rs1060500511
|
|
|
NM_001267550.2(TTN):c.55610C>T (p.Thr18537Ile)
|
rs1027035888
|
|
|
NM_001267550.2(TTN):c.55615G>A (p.Val18539Ile)
|
rs1060500557
|
|
|
NM_001267550.2(TTN):c.55682T>C (p.Ile18561Thr)
|
|
|
|
NM_001267550.2(TTN):c.55732+3A>G
|
rs2154192792
|
|
|
NM_001267550.2(TTN):c.55732+4A>G
|
rs2053372615
|
|
|
NM_001267550.2(TTN):c.55851G>C (p.Glu18617Asp)
|
rs878854316
|
|
|
NM_001267550.2(TTN):c.55909C>A (p.Arg18637Ser)
|
rs374151130
|
|
|
NM_001267550.2(TTN):c.5601C>A (p.Tyr1867Ter)
|
|
|
|
NM_001267550.2(TTN):c.56067T>A (p.Asp18689Glu)
|
rs1553667022
|
|
|
NM_001267550.2(TTN):c.56191C>A (p.Pro18731Thr)
|
rs751457168
|
|
|
NM_001267550.2(TTN):c.56191C>T (p.Pro18731Ser)
|
rs751457168
|
|
|
NM_001267550.2(TTN):c.56207C>A (p.Thr18736Asn)
|
rs1455791430
|
|
|
NM_001267550.2(TTN):c.5622del (p.Trp1874fs)
|
|
|
|
NM_001267550.2(TTN):c.5630A>T (p.Asn1877Ile)
|
rs1554006798
|
|
|
NM_001267550.2(TTN):c.56453C>A (p.Thr18818Lys)
|
rs945270235
|
|
|
NM_001267550.2(TTN):c.56549T>A (p.Leu18850Gln)
|
rs878854317
|
|
|
NM_001267550.2(TTN):c.56647+6T>C
|
|
|
|
NM_001267550.2(TTN):c.5672A>G (p.Tyr1891Cys)
|
rs547305291
|
|
|
NM_001267550.2(TTN):c.5674del (p.Asp1892fs)
|
rs2154346038
|
|
|
NM_001267550.2(TTN):c.57111+3A>G
|
rs374844230
|
|
|
NM_001267550.2(TTN):c.5713T>C (p.Tyr1905His)
|
rs1477069650
|
|
|
NM_001267550.2(TTN):c.57262G>A (p.Val19088Ile)
|
rs727505347
|
|
|
NM_001267550.2(TTN):c.57263-6T>G
|
rs562237741
|
|
|
NM_001267550.2(TTN):c.57305T>C (p.Ile19102Thr)
|
rs878854319
|
|
|
NM_001267550.2(TTN):c.57323G>A (p.Gly19108Glu)
|
rs774910035
|
|
|
NM_001267550.2(TTN):c.57325G>A (p.Val19109Met)
|
rs945083650
|
|
|
NM_001267550.2(TTN):c.57491T>C (p.Leu19164Pro)
|
rs1553659364
|
|
|
NM_001267550.2(TTN):c.57617T>A (p.Phe19206Tyr)
|
rs1060500418
|
|
|
NM_001267550.2(TTN):c.5770A>T (p.Lys1924Ter)
|
rs1327562179
|
|
|
NM_001267550.2(TTN):c.57742C>A (p.Leu19248Ile)
|
rs1553655240
|
|
|
NM_001267550.2(TTN):c.5779C>T (p.Leu1927Phe)
|
rs1370515925
|
|
|
NM_001267550.2(TTN):c.57833T>C (p.Ile19278Thr)
|
rs1060500546
|
|
|
NM_001267550.2(TTN):c.57847+5_57847+8del
|
rs587782988
|
|
|
NM_001267550.2(TTN):c.5793del (p.Arg1932fs)
|
|
|
|
NM_001267550.2(TTN):c.5797G>T (p.Glu1933Ter)
|
|
|
|
NM_001267550.2(TTN):c.58009G>A (p.Asp19337Asn)
|
rs1239348052
|
|
|
NM_001267550.2(TTN):c.58037T>C (p.Val19346Ala)
|
rs754793079
|
|
|
NM_001267550.2(TTN):c.58049AAG[1] (p.Glu19351del)
|
rs397517634
|
|
|
NM_001267550.2(TTN):c.58084G>T (p.Val19362Phe)
|
rs878854321
|
|
|
NM_001267550.2(TTN):c.5808del (p.Arg1936fs)
|
rs2154345980
|
|
|
NM_001267550.2(TTN):c.58141G>A (p.Asp19381Asn)
|
rs1325584288
|
|
|
NM_001267550.2(TTN):c.5814_5815insT (p.Leu1939fs)
|
rs2154345971
|
|
|
NM_001267550.2(TTN):c.58150+4T>C
|
|
|
|
NM_001267550.2(TTN):c.58150+5G>A
|
rs2050944617
|
|
|
NM_001267550.2(TTN):c.58303A>G (p.Ile19435Val)
|
rs749402480
|
|
|
NM_001267550.2(TTN):c.58374T>G (p.Cys19458Trp)
|
rs777855018
|
|
|
NM_001267550.2(TTN):c.58381G>A (p.Val19461Met)
|
rs368431326
|
|
|
NM_001267550.2(TTN):c.58399T>A (p.Ser19467Thr)
|
rs920055688
|
|
|
NM_001267550.2(TTN):c.584-1G>T
|
|
|
|
NM_001267550.2(TTN):c.58445C>T (p.Pro19482Leu)
|
rs746380279
|
|
|
NM_001267550.2(TTN):c.5855A>G (p.His1952Arg)
|
rs572691153
|
|
|
NM_001267550.2(TTN):c.5867del (p.Lys1956fs)
|
rs1554006249
|
|
|
NM_001267550.2(TTN):c.58684A>G (p.Ile19562Val)
|
rs397517637
|
|
|
NM_001267550.2(TTN):c.587AAG[2] (p.Glu198del)
|
rs771898264
|
|
|
NM_001267550.2(TTN):c.5884C>T (p.Gln1962Ter)
|
|
|
|
NM_001267550.2(TTN):c.5889_5922del (p.Val1964fs)
|
rs2092170508
|
|
|
NM_001267550.2(TTN):c.58958G>A (p.Arg19653Gln)
|
rs1398360418
|
|
|
NM_001267550.2(TTN):c.59035+3A>G
|
|
|
|
NM_001267550.2(TTN):c.59035+6_59035+8del
|
rs1553648631
|
|
|
NM_001267550.2(TTN):c.59036C>T (p.Ala19679Val)
|
rs1238012891
|
|
|
NM_001267550.2(TTN):c.59147T>C (p.Ile19716Thr)
|
rs763636451
|
|
|
NM_001267550.2(TTN):c.5933del (p.Lys1978fs)
|
rs2092169389
|
|
|
NM_001267550.2(TTN):c.59340G>C (p.Arg19780Ser)
|
rs1327554085
|
|
|
NM_001267550.2(TTN):c.59344G>C (p.Glu19782Gln)
|
|
|
|
NM_001267550.2(TTN):c.59381G>C (p.Arg19794Thr)
|
rs1553647309
|
|
|
NM_001267550.2(TTN):c.59451A>C (p.Lys19817Asn)
|
rs1553647180
|
|
|
NM_001267550.2(TTN):c.5953A>G (p.Ile1985Val)
|
rs886055303
|
|
|
NM_001267550.2(TTN):c.59626G>A (p.Asp19876Asn)
|
rs1244294413
|
|
|
NM_001267550.2(TTN):c.59647G>T (p.Asp19883Tyr)
|
rs1060500395
|
|
|
NM_001267550.2(TTN):c.5981C>A (p.Ser1994Ter)
|
rs758483877
|
|
|
NM_001267550.2(TTN):c.59888T>C (p.Val19963Ala)
|
rs1553645836
|
|
|
NM_001267550.2(TTN):c.59916G>C (p.Leu19972Phe)
|
rs1553645773
|
|
|
NM_001267550.2(TTN):c.59965G>C (p.Val19989Leu)
|
rs1021499065
|
|
|
NM_001267550.2(TTN):c.599del (p.Pro200fs)
|
|
|
|
NM_001267550.2(TTN):c.60121CAA[1] (p.Gln20042del)
|
rs761360903
|
|
|
NM_001267550.2(TTN):c.60305T>G (p.Ile20102Arg)
|
rs998020901
|
|
|
NM_001267550.2(TTN):c.60323C>G (p.Pro20108Arg)
|
|
|
|
NM_001267550.2(TTN):c.60472G>A (p.Gly20158Ser)
|
rs375009570
|
|
|
NM_001267550.2(TTN):c.60490G>A (p.Val20164Ile)
|
rs72646843
|
|
|
NM_001267550.2(TTN):c.6061C>T (p.Arg2021Ter)
|
|
|
|
NM_001267550.2(TTN):c.60755T>C (p.Ile20252Thr)
|
rs752999797
|
|
|
NM_001267550.2(TTN):c.60871T>G (p.Ser20291Ala)
|
rs1553643238
|
|
|
NM_001267550.2(TTN):c.60920A>T (p.Tyr20307Phe)
|
rs1553643111
|
|
|
NM_001267550.2(TTN):c.60952G>C (p.Val20318Leu)
|
|
|
|
NM_001267550.2(TTN):c.60968C>T (p.Thr20323Ile)
|
rs1060500415
|
|
|
NM_001267550.2(TTN):c.61215A>G (p.Gly20405=)
|
rs1220596514
|
|
|
NM_001267550.2(TTN):c.61244_61245inv (p.Thr20415Met)
|
|
|
|
NM_001267550.2(TTN):c.61670A>G (p.His20557Arg)
|
rs1472565206
|
|
|
NM_001267550.2(TTN):c.61709C>G (p.Pro20570Arg)
|
rs1559576730
|
|
|
NM_001267550.2(TTN):c.618_630del (p.Ile207fs)
|
rs2154358671
|
|
|
NM_001267550.2(TTN):c.62005C>T (p.Pro20669Ser)
|
rs1553641246
|
|
|
NM_001267550.2(TTN):c.62008G>C (p.Gly20670Arg)
|
rs774150150
|
|
|
NM_001267550.2(TTN):c.62137G>T (p.Asp20713Tyr)
|
rs1177521349
|
|
|
NM_001267550.2(TTN):c.62222T>G (p.Phe20741Cys)
|
rs1553640801
|
|
|
NM_001267550.2(TTN):c.62262G>C (p.Trp20754Cys)
|
rs1060500414
|
|
|
NM_001267550.2(TTN):c.62289AGA[1] (p.Glu20764del)
|
rs751783806
|
|
|
NM_001267550.2(TTN):c.62299C>G (p.Gln20767Glu)
|
rs1553640642
|
|
|
NM_001267550.2(TTN):c.62411C>A (p.Thr20804Asn)
|
rs1218971734
|
|
|
NM_001267550.2(TTN):c.6244G>T (p.Glu2082Ter)
|
rs750064248
|
|
|
NM_001267550.2(TTN):c.62618T>C (p.Ile20873Thr)
|
rs1060500438
|
|
|
NM_001267550.2(TTN):c.62678_62679delinsTT (p.Gly20893Val)
|
rs1060500476
|
|
|
NM_001267550.2(TTN):c.62681G>A (p.Cys20894Tyr)
|
rs370080086
|
|
|
NM_001267550.2(TTN):c.6290dup (p.Arg2098fs)
|
|
|
|
NM_001267550.2(TTN):c.62931AGA[1] (p.Glu20979del)
|
rs727505236
|
|
|
NM_001267550.2(TTN):c.62939T>C (p.Met20980Thr)
|
rs757789191
|
|
|
NM_001267550.2(TTN):c.63032T>A (p.Val21011Asp)
|
rs1553639384
|
|
|
NM_001267550.2(TTN):c.63047G>C (p.Ser21016Thr)
|
rs1169239147
|
|
|
NM_001267550.2(TTN):c.63064C>T (p.Arg21022Cys)
|
rs779112015
|
|
|
NM_001267550.2(TTN):c.63069G>C (p.Met21023Ile)
|
rs1060500596
|
|
|
NM_001267550.2(TTN):c.63187+5G>A
|
rs1292388582
|
|
|
NM_001267550.2(TTN):c.63250G>A (p.Gly21084Arg)
|
rs1559557623
|
|
|
NM_001267550.2(TTN):c.63298G>A (p.Val21100Ile)
|
rs774240012
|
|
|
NM_001267550.2(TTN):c.63329C>T (p.Ala21110Val)
|
rs370687831
|
|
|
NM_001267550.2(TTN):c.6332G>A (p.Trp2111Ter)
|
|
|
|
NM_001267550.2(TTN):c.63343G>A (p.Gly21115Ser)
|
rs1559556478
|
|
|
NM_001267550.2(TTN):c.63446A>C (p.Asn21149Thr)
|
rs1060500527
|
|
|
NM_001267550.2(TTN):c.63674T>C (p.Val21225Ala)
|
rs1396646735
|
|
|
NM_001267550.2(TTN):c.6377G>A (p.Trp2126Ter)
|
|
|
|
NM_001267550.2(TTN):c.6378G>A (p.Trp2126Ter)
|
rs754781119
|
|
|
NM_001267550.2(TTN):c.63793+4G>C
|
rs777513250
|
|
|
NM_001267550.2(TTN):c.63793+5G>A
|
rs2049296291
|
|
|
NM_001267550.2(TTN):c.63793G>T (p.Asp21265Tyr)
|
rs794729474
|
|
|
NM_001267550.2(TTN):c.6381C>G (p.Tyr2127Ter)
|
rs2092121151
|
|
|
NM_001267550.2(TTN):c.6388G>T (p.Glu2130Ter)
|
rs762914675
|
|
|
NM_001267550.2(TTN):c.64093+4A>C
|
|
|
|
NM_001267550.2(TTN):c.64093+4_64093+7del
|
rs1437065772
|
|
|
NM_001267550.2(TTN):c.6409del (p.Val2137fs)
|
rs2092117117
|
|
|
NM_001267550.2(TTN):c.64123G>C (p.Val21375Leu)
|
rs371670651
|
|
|
NM_001267550.2(TTN):c.64396+4A>G
|
rs2049020856
|
|
|
NM_001267550.2(TTN):c.64541C>T (p.Ala21514Val)
|
rs1060500520
|
|
|
NM_001267550.2(TTN):c.64672G>A (p.Asp21558Asn)
|
|
|
|
NM_001267550.2(TTN):c.64672G>T (p.Asp21558Tyr)
|
|
|
|
NM_001267550.2(TTN):c.64688C>G (p.Pro21563Arg)
|
|
|
|
NM_001267550.2(TTN):c.64732T>G (p.Ser21578Ala)
|
rs1553633161
|
|
|
NM_001267550.2(TTN):c.64753C>A (p.Leu21585Met)
|
rs772957708
|
|
|
NM_001267550.2(TTN):c.64781A>C (p.Asn21594Thr)
|
rs1060500570
|
|
|
NM_001267550.2(TTN):c.64860G>C (p.Arg21620Ser)
|
rs373713828
|
|
|
NM_001267550.2(TTN):c.64937T>C (p.Leu21646Pro)
|
rs1060500539
|
|
|
NM_001267550.2(TTN):c.6497T>G (p.Leu2166Ter)
|
|
|
|
NM_001267550.2(TTN):c.65024G>A (p.Cys21675Tyr)
|
rs1060500571
|
|
|
NM_001267550.2(TTN):c.65048C>A (p.Pro21683Gln)
|
rs1328998714
|
|
|
NM_001267550.2(TTN):c.65072T>C (p.Ile21691Thr)
|
rs1060500388
|
|
|
NM_001267550.2(TTN):c.6509-1G>T
|
|
|
|
NM_001267550.2(TTN):c.65093G>A (p.Arg21698His)
|
rs371581072
|
|
|
NM_001267550.2(TTN):c.65114T>A (p.Leu21705Gln)
|
rs2154179812
|
|
|
NM_001267550.2(TTN):c.65159C>T (p.Pro21720Leu)
|
rs878854325
|
|
|
NM_001267550.2(TTN):c.65206G>T (p.Ala21736Ser)
|
rs1320436212
|
|
|
NM_001267550.2(TTN):c.6520A>G (p.Ile2174Val)
|
rs1171508892
|
|
|
NM_001267550.2(TTN):c.6532C>T (p.Gln2178Ter)
|
rs1193046655
|
|
|
NM_001267550.2(TTN):c.65546C>T (p.Ser21849Phe)
|
rs1060500465
|
|
|
NM_001267550.2(TTN):c.6564del (p.Asp2189fs)
|
|
|
|
NM_001267550.2(TTN):c.6570dup (p.Met2191fs)
|
rs2092066056
|
|
|
NM_001267550.2(TTN):c.65812_65863+6del
|
rs2048116266
|
|
|
NM_001267550.2(TTN):c.65863G>A (p.Asp21955Asn)
|
rs1428859947
|
|
|
NM_001267550.2(TTN):c.658C>T (p.Arg220Ter)
|
rs748313513
|
|
|
NM_001267550.2(TTN):c.66256C>T (p.Pro22086Ser)
|
rs1060500491
|
|
|
NM_001267550.2(TTN):c.66430G>T (p.Ala22144Ser)
|
rs183276016
|
|
|
NM_001267550.2(TTN):c.66463+2dup
|
rs1276825352
|
|
|
NM_001267550.2(TTN):c.66463+4dup
|
|
|
|
NM_001267550.2(TTN):c.66463+5G>A
|
|
|
|
NM_001267550.2(TTN):c.66463+5G>C
|
|
|
|
NM_001267550.2(TTN):c.66578T>C (p.Val22193Ala)
|
rs775454536
|
|
|
NM_001267550.2(TTN):c.6675C>G (p.Asp2225Glu)
|
rs1002616301
|
|
|
NM_001267550.2(TTN):c.66769+4_66769+7del
|
rs727504189
|
|
|
NM_001267550.2(TTN):c.66769+5G>A
|
|
|
|
NM_001267550.2(TTN):c.6678_6681del (p.Lys2227fs)
|
rs397517698
|
|
|
NM_001267550.2(TTN):c.6688T>C (p.Phe2230Leu)
|
rs1060500424
|
|
|
NM_001267550.2(TTN):c.669+1G>T
|
|
|
|
NM_001267550.2(TTN):c.669+2T>C
|
|
|
|
NM_001267550.2(TTN):c.669+3A>G
|
|
|
|
NM_001267550.2(TTN):c.66926A>T (p.Asp22309Val)
|
rs1481781346
|
|
|
NM_001267550.2(TTN):c.66del (p.Ala23fs)
|
|
|
|
NM_001267550.2(TTN):c.670-1G>A
|
rs1054895701
|
|
|
NM_001267550.2(TTN):c.67057+3A>C
|
|
|
|
NM_001267550.2(TTN):c.6712dup (p.Thr2238fs)
|
rs2092039557
|
|
|
NM_001267550.2(TTN):c.6713C>G (p.Thr2238Arg)
|
rs201284459
|
|
|
NM_001267550.2(TTN):c.67195A>G (p.Lys22399Glu)
|
rs1060500421
|
|
|
NM_001267550.2(TTN):c.67229A>C (p.Lys22410Thr)
|
rs1559493839
|
|
|
NM_001267550.2(TTN):c.67541_67542delinsTG (p.Thr22514Met)
|
rs1553622336
|
|
|
NM_001267550.2(TTN):c.67616T>C (p.Val22539Ala)
|
rs1553622176
|
|
|
NM_001267550.2(TTN):c.67636+2_67636+3insC
|
rs2047225762
|
|
|
NM_001267550.2(TTN):c.67636G>A (p.Val22546Met)
|
rs794729244
|
|
|
NM_001267550.2(TTN):c.67804T>C (p.Ser22602Pro)
|
rs780276317
|
|
|
NM_001267550.2(TTN):c.67817C>T (p.Thr22606Ile)
|
rs1254285646
|
|
|
NM_001267550.2(TTN):c.6790+1G>T
|
|
|
|
NM_001267550.2(TTN):c.67918G>A (p.Val22640Ile)
|
rs750093105
|
|
|
NM_001267550.2(TTN):c.67919T>C (p.Val22640Ala)
|
rs1060500506
|
|
|
NM_001267550.2(TTN):c.68066A>G (p.Asn22689Ser)
|
rs375397094
|
|
|
NM_001267550.2(TTN):c.6816A>T (p.Glu2272Asp)
|
rs1554002953
|
|
|
NM_001267550.2(TTN):c.68176G>A (p.Val22726Ile)
|
rs1553620392
|
|
|
NM_001267550.2(TTN):c.6820C>T (p.Gln2274Ter)
|
rs145649088
|
|
|
NM_001267550.2(TTN):c.68218C>T (p.Pro22740Ser)
|
rs886039082
|
|
|
NM_001267550.2(TTN):c.68224+3_68224+6del
|
|
|
|
NM_001267550.2(TTN):c.68230C>A (p.Pro22744Thr)
|
|
|
|
NM_001267550.2(TTN):c.6825del (p.Asp2275fs)
|
rs2091959062
|
|
|
NM_001267550.2(TTN):c.68328A>G (p.Thr22776=)
|
rs1553619783
|
|
|
NM_001267550.2(TTN):c.68329+2_68329+3insTT
|
rs536078303
|
|
|
NM_001267550.2(TTN):c.68329G>C (p.Gly22777Arg)
|
rs2154174748
|
|
|
NM_001267550.2(TTN):c.68432G>T (p.Gly22811Val)
|
rs78806155
|
|
|
NM_001267550.2(TTN):c.68527G>C (p.Asp22843His)
|
|
|
|
NM_001267550.2(TTN):c.6857del (p.Glu2285_Leu2286insTer)
|
rs2154345136
|
|
|
NM_001267550.2(TTN):c.68824+3A>G
|
|
|
|
NM_001267550.2(TTN):c.68921A>G (p.Lys22974Arg)
|
rs1559471235
|
|
|
NM_001267550.2(TTN):c.68990C>A (p.Thr22997Asn)
|
rs886043272
|
|
|
NM_001267550.2(TTN):c.69172A>T (p.Thr23058Ser)
|
rs752304059
|
|
|
NM_001267550.2(TTN):c.69212C>T (p.Pro23071Leu)
|
rs367664195
|
|
|
NM_001267550.2(TTN):c.69506G>T (p.Ser23169Ile)
|
rs879245080
|
|
|
NM_001267550.2(TTN):c.69715+5G>C
|
rs1553615539
|
|
|
NM_001267550.2(TTN):c.69715_69715+3dup
|
rs2154173093
|
|
|
NM_001267550.2(TTN):c.69748A>T (p.Thr23250Ser)
|
rs1060500455
|
|
|
NM_001267550.2(TTN):c.7005dup (p.Tyr2336fs)
|
|
|
|
NM_001267550.2(TTN):c.70112G>C (p.Arg23371Pro)
|
rs767208489
|
|
|
NM_001267550.2(TTN):c.70120C>G (p.Pro23374Ala)
|
rs1553614524
|
|
|
NM_001267550.2(TTN):c.70153C>G (p.Leu23385Val)
|
rs769672151
|
|
|
NM_001267550.2(TTN):c.70244T>A (p.Met23415Lys)
|
rs765861604
|
|
|
NM_001267550.2(TTN):c.7026del (p.Lys2344fs)
|
rs1211627330
|
|
|
NM_001267550.2(TTN):c.7031dup (p.Thr2345fs)
|
rs2091933920
|
|
|
NM_001267550.2(TTN):c.70324C>A (p.Leu23442Met)
|
rs1553614105
|
|
|
NM_001267550.2(TTN):c.7042_7045dup (p.Leu2349Ter)
|
|
|
|
NM_001267550.2(TTN):c.70480T>C (p.Tyr23494His)
|
rs72646888
|
|
|
NM_001267550.2(TTN):c.7057+1G>C
|
|
|
|
NM_001267550.2(TTN):c.7057+1del
|
|
|
|
NM_001267550.2(TTN):c.70655C>T (p.Ala23552Val)
|
rs754742503
|
|
|
NM_001267550.2(TTN):c.70748C>T (p.Thr23583Ile)
|
rs397517687
|
|
|
NM_001267550.2(TTN):c.70813G>C (p.Val23605Leu)
|
rs368325616
|
|
|
NM_001267550.2(TTN):c.70830C>A (p.Ser23610Arg)
|
rs12464787
|
|
|
NM_001267550.2(TTN):c.7104_7105del (p.Cys2368_Glu2369delinsTer)
|
rs2154344972
|
|
|
NM_001267550.2(TTN):c.71140G>A (p.Glu23714Lys)
|
rs767016969
|
|
|
NM_001267550.2(TTN):c.71147G>A (p.Gly23716Asp)
|
rs774327480
|
|
|
NM_001267550.2(TTN):c.71305A>T (p.Thr23769Ser)
|
rs776889753
|
|
|
NM_001267550.2(TTN):c.71388G>T (p.Glu23796Asp)
|
rs878854330
|
|
|
NM_001267550.2(TTN):c.71408C>T (p.Ala23803Val)
|
rs1553611543
|
|
|
NM_001267550.2(TTN):c.71476G>C (p.Val23826Leu)
|
rs377751708
|
|
|
NM_001267550.2(TTN):c.7148del (p.Ser2383fs)
|
rs1060500437
|
|
|
NM_001267550.2(TTN):c.71568C>A (p.Ser23856Arg)
|
rs1060500519
|
|
|
NM_001267550.2(TTN):c.71654T>C (p.Ile23885Thr)
|
rs1488254665
|
|
|
NM_001267550.2(TTN):c.7177C>T (p.Gln2393Ter)
|
rs2154344933
|
|
|
NM_001267550.2(TTN):c.71819C>T (p.Thr23940Ile)
|
rs1553610793
|
|
|
NM_001267550.2(TTN):c.71876A>G (p.Tyr23959Cys)
|
rs1709290294
|
|
|
NM_001267550.2(TTN):c.71891G>A (p.Arg23964Lys)
|
rs770679732
|
|
|
NM_001267550.2(TTN):c.72106A>C (p.Lys24036Gln)
|
rs544263357
|
|
|
NM_001267550.2(TTN):c.72106A>G (p.Lys24036Glu)
|
rs544263357
|
|
|
NM_001267550.2(TTN):c.72231A>C (p.Glu24077Asp)
|
rs1423712037
|
|
|
NM_001267550.2(TTN):c.7229A>C (p.His2410Pro)
|
rs747828487
|
|
|
NM_001267550.2(TTN):c.72528A>C (p.Glu24176Asp)
|
rs878854331
|
|
|
NM_001267550.2(TTN):c.72572A>C (p.Asn24191Thr)
|
rs1479698498
|
|
|
NM_001267550.2(TTN):c.72611G>A (p.Gly24204Glu)
|
rs1553609189
|
|
|
NM_001267550.2(TTN):c.72716T>C (p.Met24239Thr)
|
rs750298083
|
|
|
NM_001267550.2(TTN):c.72743C>G (p.Ser24248Cys)
|
rs1060500474
|
|
|
NM_001267550.2(TTN):c.7275C>G (p.Tyr2425Ter)
|
|
|
|
NM_001267550.2(TTN):c.72923C>G (p.Pro24308Arg)
|
rs1553608507
|
|
|
NM_001267550.2(TTN):c.73169C>A (p.Thr24390Lys)
|
rs1060500583
|
|
|
NM_001267550.2(TTN):c.7330+1_7330+8del
|
|
|
|
NM_001267550.2(TTN):c.7331-1G>A
|
|
|
|
NM_001267550.2(TTN):c.73334C>A (p.Thr24445Asn)
|
rs377334665
|
|
|
NM_001267550.2(TTN):c.73570C>A (p.Gln24524Lys)
|
rs753429609
|
|
|
NM_001267550.2(TTN):c.7365T>G (p.Asn2455Lys)
|
rs777738635
|
|
|
NM_001267550.2(TTN):c.7365_7374del (p.Asn2455fs)
|
rs794729397
|
|
|
NM_001267550.2(TTN):c.73878G>A (p.Met24626Ile)
|
rs1060500561
|
|
|
NM_001267550.2(TTN):c.73896_73897insACT (p.Ser24632_Val24633insThr)
|
rs1060500433
|
|
|
NM_001267550.2(TTN):c.73904T>C (p.Leu24635Pro)
|
rs1553606189
|
|
|
NM_001267550.2(TTN):c.73954A>G (p.Ile24652Val)
|
rs760045336
|
|
|
NM_001267550.2(TTN):c.74021C>T (p.Ala24674Val)
|
rs1158950009
|
|
|
NM_001267550.2(TTN):c.74024C>G (p.Thr24675Ser)
|
rs1553606008
|
|
|
NM_001267550.2(TTN):c.74057C>T (p.Ser24686Phe)
|
rs727504921
|
|
|
NM_001267550.2(TTN):c.7450C>T (p.Gln2484Ter)
|
rs2091844239
|
|
|
NM_001267550.2(TTN):c.74519C>A (p.Ser24840Tyr)
|
rs1060500559
|
|
|
NM_001267550.2(TTN):c.74608G>C (p.Ala24870Pro)
|
rs768892376
|
|
|
NM_001267550.2(TTN):c.74612G>A (p.Cys24871Tyr)
|
rs1553604956
|
|
|
NM_001267550.2(TTN):c.7469G>T (p.Arg2490Leu)
|
rs148920986
|
|
|
NM_001267550.2(TTN):c.74704G>A (p.Ala24902Thr)
|
rs1260354990
|
|
|
NM_001267550.2(TTN):c.74830C>A (p.His24944Asn)
|
rs779868325
|
|
|
NM_001267550.2(TTN):c.74895A>G (p.Gln24965=)
|
rs201512527
|
|
|
NM_001267550.2(TTN):c.7493del (p.Thr2498fs)
|
rs2154344697
|
|
|
NM_001267550.2(TTN):c.74988A>C (p.Lys24996Asn)
|
rs933609400
|
|
|
NM_001267550.2(TTN):c.75127G>T (p.Val25043Phe)
|
rs559907766
|
|
|
NM_001267550.2(TTN):c.75161T>C (p.Met25054Thr)
|
rs1553604004
|
|
|
NM_001267550.2(TTN):c.7516C>T (p.Arg2506Ter)
|
rs780415493
|
|
|
NM_001267550.2(TTN):c.75277C>G (p.Pro25093Ala)
|
rs748359400
|
|
|
NM_001267550.2(TTN):c.75325C>T (p.Pro25109Ser)
|
rs1060500498
|
|
|
NM_001267550.2(TTN):c.75359C>A (p.Thr25120Lys)
|
rs878854333
|
|
|
NM_001267550.2(TTN):c.75653C>T (p.Thr25218Ile)
|
rs1060500521
|
|
|
NM_001267550.2(TTN):c.75872T>C (p.Leu25291Pro)
|
rs1559388448
|
|
|
NM_001267550.2(TTN):c.75913C>T (p.Pro25305Ser)
|
rs1005621705
|
|
|
NM_001267550.2(TTN):c.7594+2T>A
|
rs2091827779
|
|
|
NM_001267550.2(TTN):c.7594+3A>G
|
rs769765778
|
|
|
NM_001267550.2(TTN):c.75952A>G (p.Lys25318Glu)
|
rs878854334
|
|
|
NM_001267550.2(TTN):c.75968T>G (p.Val25323Gly)
|
rs781058398
|
|
|
NM_001267550.2(TTN):c.7599del (p.Ile2535fs)
|
rs2091811840
|
|
|
NM_001267550.2(TTN):c.76186T>G (p.Tyr25396Asp)
|
rs771853872
|
|
|
NM_001267550.2(TTN):c.76187A>G (p.Tyr25396Cys)
|
rs1060500403
|
|
|
NM_001267550.2(TTN):c.7624C>T (p.Leu2542Phe)
|
rs762722498
|
|
|
NM_001267550.2(TTN):c.7628C>G (p.Thr2543Ser)
|
rs765136135
|
|
|
NM_001267550.2(TTN):c.7628C>T (p.Thr2543Ile)
|
rs765136135
|
|
|
NM_001267550.2(TTN):c.7639del (p.Thr2547fs)
|
rs1060500400
|
|
|
NM_001267550.2(TTN):c.7642C>T (p.Gln2548Ter)
|
rs727503688
|
|
|
NM_001267550.2(TTN):c.76492C>A (p.Pro25498Thr)
|
rs377754701
|
|
|
NM_001267550.2(TTN):c.76492C>G (p.Pro25498Ala)
|
rs377754701
|
|
|
NM_001267550.2(TTN):c.76607G>T (p.Gly25536Val)
|
rs1021201663
|
|
|
NM_001267550.2(TTN):c.76707C>A (p.Asp25569Glu)
|
rs1002726225
|
|
|
NM_001267550.2(TTN):c.76711G>A (p.Val25571Ile)
|
rs760782774
|
|
|
NM_001267550.2(TTN):c.76739C>A (p.Thr25580Lys)
|
rs56372592
|
|
|
NM_001267550.2(TTN):c.76802C>T (p.Thr25601Met)
|
rs374913031
|
|
|
NM_001267550.2(TTN):c.76838T>A (p.Ile25613Asn)
|
rs1553601096
|
|
|
NM_001267550.2(TTN):c.76858A>G (p.Ile25620Val)
|
rs773656560
|
|
|
NM_001267550.2(TTN):c.76931C>T (p.Thr25644Ile)
|
rs1060500456
|
|
|
NM_001267550.2(TTN):c.76981A>G (p.Lys25661Glu)
|
rs1553600919
|
|
|
NM_001267550.2(TTN):c.77182A>G (p.Ser25728Gly)
|
rs1306199809
|
|
|
NM_001267550.2(TTN):c.77260C>A (p.Leu25754Ile)
|
|
|
|
NM_001267550.2(TTN):c.77365A>T (p.Ile25789Leu)
|
rs1253687329
|
|
|
NM_001267550.2(TTN):c.7744G>A (p.Ala2582Thr)
|
rs1060500576
|
|
|
NM_001267550.2(TTN):c.7756dup (p.Ile2586fs)
|
rs1553999983
|
|
|
NM_001267550.2(TTN):c.7762A>T (p.Lys2588Ter)
|
rs1553999955
|
|
|
NM_001267550.2(TTN):c.7789G>T (p.Asp2597Tyr)
|
rs1553999887
|
|
|
NM_001267550.2(TTN):c.78006_78020del (p.Ile26002_Ser26006del)
|
rs1064792913
|
|
|
NM_001267550.2(TTN):c.78118G>A (p.Val26040Ile)
|
rs576341346
|
|
|
NM_001267550.2(TTN):c.7813del (p.Tyr2605fs)
|
rs2154344465
|
|
|
NM_001267550.2(TTN):c.78370A>G (p.Ile26124Val)
|
rs397517713
|
|
|
NM_001267550.2(TTN):c.78371T>A (p.Ile26124Asn)
|
rs778290450
|
|
|
NM_001267550.2(TTN):c.78466G>T (p.Asp26156Tyr)
|
rs1553595170
|
|
|
NM_001267550.2(TTN):c.7846dup (p.Thr2616fs)
|
rs2154344443
|
|
|
NM_001267550.2(TTN):c.78541C>T (p.Pro26181Ser)
|
rs1553594900
|
|
|
NM_001267550.2(TTN):c.7855+5G>C
|
|
|
|
NM_001267550.2(TTN):c.7855G>A (p.Gly2619Ser)
|
|
|
|
NM_001267550.2(TTN):c.7856-1G>T
|
rs2154343384
|
|
|
NM_001267550.2(TTN):c.78637C>T (p.Leu26213Phe)
|
rs1553594441
|
|
|
NM_001267550.2(TTN):c.78676G>C (p.Glu26226Gln)
|
rs754878387
|
|
|
NM_001267550.2(TTN):c.78707A>T (p.Glu26236Val)
|
rs1559361218
|
|
|
NM_001267550.2(TTN):c.7906G>T (p.Glu2636Ter)
|
|
|
|
NM_001267550.2(TTN):c.79264A>C (p.Ile26422Leu)
|
rs1553590996
|
|
|
NM_001267550.2(TTN):c.79333C>T (p.Arg26445Cys)
|
rs780658084
|
|
|
NM_001267550.2(TTN):c.7955G>A (p.Trp2652Ter)
|
rs1574584676
|
|
|
NM_001267550.2(TTN):c.79645G>C (p.Glu26549Gln)
|
rs1705910626
|
|
|
NM_001267550.2(TTN):c.79861_79862inv (p.Thr26621Val)
|
|
|
|
NM_001267550.2(TTN):c.79862C>A (p.Thr26621Lys)
|
rs3731746
|
|
|
NM_001267550.2(TTN):c.79987_79989del (p.Leu26663del)
|
rs1193943076
|
|
|
NM_001267550.2(TTN):c.7999del (p.Ser2667fs)
|
|
|
|
NM_001267550.2(TTN):c.80159T>C (p.Ile26720Thr)
|
rs879183549
|
|
|
NM_001267550.2(TTN):c.80351C>G (p.Pro26784Arg)
|
rs1553584164
|
|
|
NM_001267550.2(TTN):c.80459A>C (p.Gln26820Pro)
|
|
|
|
NM_001267550.2(TTN):c.8067T>A (p.Tyr2689Ter)
|
|
|
|
NM_001267550.2(TTN):c.80876G>A (p.Gly26959Asp)
|
rs768259414
|
|
|
NM_001267550.2(TTN):c.8092del (p.Thr2698fs)
|
rs2154343276
|
|
|
NM_001267550.2(TTN):c.80950G>A (p.Glu26984Lys)
|
rs1060500562
|
|
|
NM_001267550.2(TTN):c.81022T>G (p.Tyr27008Asp)
|
rs72648211
|
|
|
NM_001267550.2(TTN):c.81089CAA[1] (p.Thr27031del)
|
rs1163103954
|
|
|
NM_001267550.2(TTN):c.8116+5G>A
|
rs1561231691
|
|
|
NM_001267550.2(TTN):c.81233C>A (p.Thr27078Asn)
|
rs1553578982
|
|
|
NM_001267550.2(TTN):c.81302G>A (p.Gly27101Asp)
|
rs201490050
|
|
|
NM_001267550.2(TTN):c.8137_8138del (p.Leu2713fs)
|
|
|
|
NM_001267550.2(TTN):c.81389C>T (p.Thr27130Ile)
|
rs757768218
|
|
|
NM_001267550.2(TTN):c.81509C>T (p.Pro27170Leu)
|
rs774553407
|
|
|
NM_001267550.2(TTN):c.81527G>T (p.Arg27176Leu)
|
rs199726308
|
|
|
NM_001267550.2(TTN):c.81875C>T (p.Thr27292Ile)
|
rs1060500393
|
|
|
NM_001267550.2(TTN):c.82171T>C (p.Trp27391Arg)
|
rs778983249
|
|
|
NM_001267550.2(TTN):c.82193G>A (p.Gly27398Asp)
|
rs1553574305
|
|
|
NM_001267550.2(TTN):c.8220G>A (p.Trp2740Ter)
|
rs1553995639
|
|
|
NM_001267550.2(TTN):c.82303C>A (p.Leu27435Ile)
|
rs1060500432
|
|
|
NM_001267550.2(TTN):c.82796G>A (p.Gly27599Asp)
|
rs1553571755
|
|
|
NM_001267550.2(TTN):c.82810G>C (p.Gly27604Arg)
|
rs199929362
|
|
|
NM_001267550.2(TTN):c.8285A>T (p.Tyr2762Phe)
|
rs1553995474
|
|
|
NM_001267550.2(TTN):c.8286C>G (p.Tyr2762Ter)
|
rs1574570125
|
|
|
NM_001267550.2(TTN):c.82919C>G (p.Thr27640Ser)
|
rs1553571185
|
|
|
NM_001267550.2(TTN):c.83095A>C (p.Ile27699Leu)
|
rs1553570628
|
|
|
NM_001267550.2(TTN):c.83281G>A (p.Val27761Ile)
|
rs371788070
|
|
|
NM_001267550.2(TTN):c.83281G>C (p.Val27761Leu)
|
rs371788070
|
|
|
NM_001267550.2(TTN):c.83317T>G (p.Leu27773Val)
|
rs376683928
|
|
|
NM_001267550.2(TTN):c.833del (p.Ala278fs)
|
|
|
|
NM_001267550.2(TTN):c.83590C>T (p.Pro27864Ser)
|
rs1553568366
|
|
|
NM_001267550.2(TTN):c.8365A>T (p.Arg2789Ter)
|
rs1553995241
|
|
|
NM_001267550.2(TTN):c.8380+1G>A
|
rs794729306
|
|
|
NM_001267550.2(TTN):c.8380+5G>T
|
rs2154342828
|
|
|
NM_001267550.2(TTN):c.83939T>C (p.Leu27980Pro)
|
rs1060500536
|
|
|
NM_001267550.2(TTN):c.84004A>C (p.Thr28002Pro)
|
rs369737884
|
|
|
NM_001267550.2(TTN):c.84263G>C (p.Ser28088Thr)
|
rs200450022
|
|
|
NM_001267550.2(TTN):c.84304T>C (p.Trp28102Arg)
|
rs1553565393
|
|
|
NM_001267550.2(TTN):c.84332G>A (p.Arg28111Lys)
|
rs1060500463
|
|
|
NM_001267550.2(TTN):c.84338C>T (p.Ser28113Phe)
|
rs753201539
|
|
|
NM_001267550.2(TTN):c.8433del (p.Val2812fs)
|
rs2091273665
|
|
|
NM_001267550.2(TTN):c.84353G>A (p.Arg28118His)
|
rs72648220
|
|
|
NM_001267550.2(TTN):c.84794C>A (p.Thr28265Lys)
|
rs376874908
|
|
|
NM_001267550.2(TTN):c.84797_84799del (p.Arg28266del)
|
rs1553564204
|
|
|
NM_001267550.2(TTN):c.848del (p.Pro283fs)
|
rs2154358488
|
|
|
NM_001267550.2(TTN):c.84968A>G (p.Tyr28323Cys)
|
rs1285180382
|
|
|
NM_001267550.2(TTN):c.8497G>T (p.Glu2833Ter)
|
rs1553994874
|
|
|
NM_001267550.2(TTN):c.8500del (p.Ile2834fs)
|
|
|
|
NM_001267550.2(TTN):c.85040T>C (p.Ile28347Thr)
|
rs397517731
|
|
|
NM_001267550.2(TTN):c.85402T>C (p.Cys28468Arg)
|
rs1553563147
|
|
|
NM_001267550.2(TTN):c.85450G>T (p.Asp28484Tyr)
|
rs56330345
|
|
|
NM_001267550.2(TTN):c.85748C>T (p.Ser28583Phe)
|
rs1553562507
|
|
|
NM_001267550.2(TTN):c.8576C>G (p.Ser2859Ter)
|
rs1574564600
|
|
|
NM_001267550.2(TTN):c.85876T>C (p.Tyr28626His)
|
rs1477861188
|
|
|
NM_001267550.2(TTN):c.86030T>C (p.Phe28677Ser)
|
rs1553561985
|
|
|
NM_001267550.2(TTN):c.86242A>G (p.Arg28748Gly)
|
rs1553561470
|
|
|
NM_001267550.2(TTN):c.86290T>A (p.Leu28764Met)
|
rs1553561353
|
|
|
NM_001267550.2(TTN):c.86292G>C (p.Leu28764Phe)
|
rs1553561345
|
|
|
NM_001267550.2(TTN):c.86294T>C (p.Ile28765Thr)
|
rs1553561335
|
|
|
NM_001267550.2(TTN):c.86377A>G (p.Thr28793Ala)
|
rs727505234
|
|
|
NM_001267550.2(TTN):c.86417C>T (p.Ser28806Phe)
|
rs1060500445
|
|
|
NM_001267550.2(TTN):c.86419C>T (p.Arg28807Cys)
|
rs765632053
|
|
|
NM_001267550.2(TTN):c.86497_86498delinsTT (p.Ala28833Phe)
|
rs794729519
|
|
|
NM_001267550.2(TTN):c.86729AAG[1] (p.Glu28911del)
|
rs727504797
|
|
|
NM_001267550.2(TTN):c.86762G>A (p.Gly28921Glu)
|
rs1553559912
|
|
|
NM_001267550.2(TTN):c.86851G>C (p.Val28951Leu)
|
rs878854426
|
|
|
NM_001267550.2(TTN):c.8687C>T (p.Thr2896Ile)
|
rs72647884
|
|
|
NM_001267550.2(TTN):c.87145T>C (p.Phe29049Leu)
|
rs1553556217
|
|
|
NM_001267550.2(TTN):c.87407A>C (p.Asp29136Ala)
|
rs768756948
|
|
|
NM_001267550.2(TTN):c.87535G>C (p.Glu29179Gln)
|
rs1553554743
|
|
|
NM_001267550.2(TTN):c.87733T>C (p.Trp29245Arg)
|
rs771722716
|
|
|
NM_001267550.2(TTN):c.8781dup (p.Lys2928fs)
|
|
|
|
NM_001267550.2(TTN):c.8789_8796del (p.Val2930fs)
|
rs1574559518
|
|
|
NM_001267550.2(TTN):c.87904A>T (p.Ile29302Phe)
|
rs1553552999
|
|
|
NM_001267550.2(TTN):c.88033A>G (p.Thr29345Ala)
|
rs878854427
|
|
|
NM_001267550.2(TTN):c.88047G>C (p.Lys29349Asn)
|
rs748102856
|
|
|
NM_001267550.2(TTN):c.88106G>A (p.Gly29369Asp)
|
rs55898359
|
|
|
NM_001267550.2(TTN):c.88112T>C (p.Ile29371Thr)
|
rs767890385
|
|
|
NM_001267550.2(TTN):c.88238G>A (p.Arg29413Lys)
|
rs1553551467
|
|
|
NM_001267550.2(TTN):c.8843C>T (p.Ser2948Leu)
|
rs397517763
|
|
|
NM_001267550.2(TTN):c.8858_8859del (p.Phe2953fs)
|
rs2154342483
|
|
|
NM_001267550.2(TTN):c.88593T>C (p.Leu29531=)
|
rs1553547141
|
|
|
NM_001267550.2(TTN):c.88594+5G>T
|
|
|
|
NM_001267550.2(TTN):c.88595-6T>G
|
rs1553546842
|
|
|
NM_001267550.2(TTN):c.88595-9C>G
|
rs1559233127
|
|
|
NM_001267550.2(TTN):c.88694A>C (p.Lys29565Thr)
|
rs1263180064
|
|
|
NM_001267550.2(TTN):c.88708A>C (p.Ile29570Leu)
|
rs139506970
|
|
|
NM_001267550.2(TTN):c.88781C>A (p.Thr29594Lys)
|
rs1553545836
|
|
|
NM_001267550.2(TTN):c.88829C>A (p.Ala29610Asp)
|
rs1060500410
|
|
|
NM_001267550.2(TTN):c.88836C>A (p.Asn29612Lys)
|
rs767347782
|
|
|
NM_001267550.2(TTN):c.8884del (p.Ala2962fs)
|
rs794729372
|
|
|
NM_001267550.2(TTN):c.88851C>T (p.Gly29617=)
|
rs201241167
|
|
|
NM_001267550.2(TTN):c.88877T>C (p.Val29626Ala)
|
rs766178585
|
|
|
NM_001267550.2(TTN):c.88894+5G>A
|
rs2154152920
|
|
|
NM_001267550.2(TTN):c.89018G>T (p.Arg29673Leu)
|
rs200639218
|
|
|
NM_001267550.2(TTN):c.89024AGA[1] (p.Lys29676del)
|
rs771616392
|
|
|
NM_001267550.2(TTN):c.8902C>G (p.Pro2968Ala)
|
rs773875566
|
|
|
NM_001267550.2(TTN):c.8903-2A>T
|
|
|
|
NM_001267550.2(TTN):c.89195T>A (p.Ile29732Asn)
|
rs769020530
|
|
|
NM_001267550.2(TTN):c.89197+2dup
|
rs2154152416
|
|
|
NM_001267550.2(TTN):c.89197+5G>A
|
rs1060500534
|
|
|
NM_001267550.2(TTN):c.89494G>C (p.Asp29832His)
|
rs878854430
|
|
|
NM_001267550.2(TTN):c.89500C>G (p.Leu29834Val)
|
rs761591533
|
|
|
NM_001267550.2(TTN):c.89503+5G>T
|
rs2154152059
|
|
|
NM_001267550.2(TTN):c.89704G>A (p.Val29902Ile)
|
|
|
|
NM_001267550.2(TTN):c.89776G>A (p.Val29926Met)
|
rs1553541468
|
|
|
NM_001267550.2(TTN):c.8989A>G (p.Ile2997Val)
|
rs879242806
|
|
|
NM_001267550.2(TTN):c.89953C>T (p.His29985Tyr)
|
rs557248616
|
|
|
NM_001267550.2(TTN):c.8997del (p.Ser2998_Tyr2999insTer)
|
|
|
|
NM_001267550.2(TTN):c.89G>A (p.Ser30Asn)
|
rs767153909
|
|
|
NM_001267550.2(TTN):c.90244A>G (p.Ile30082Val)
|
rs777636306
|
|
|
NM_001267550.2(TTN):c.90451C>T (p.Leu30151Phe)
|
rs750520740
|
|
|
NM_001267550.2(TTN):c.9047del (p.Met3016fs)
|
|
|
|
NM_001267550.2(TTN):c.9050del (p.Arg3017fs)
|
|
|
|
NM_001267550.2(TTN):c.90512C>T (p.Pro30171Leu)
|
rs2154151253
|
|
|
NM_001267550.2(TTN):c.90614T>C (p.Ile30205Thr)
|
rs1283032526
|
|
|
NM_001267550.2(TTN):c.90656T>A (p.Val30219Asp)
|
rs1060500535
|
|
|
NM_001267550.2(TTN):c.90758GAG[2] (p.Gly30255del)
|
rs748912340
|
|
|
NM_001267550.2(TTN):c.90814T>A (p.Trp30272Arg)
|
rs777716014
|
|
|
NM_001267550.2(TTN):c.90819G>T (p.Lys30273Asn)
|
rs1307577297
|
|
|
NM_001267550.2(TTN):c.90941G>C (p.Ser30314Thr)
|
rs763875418
|
|
|
NM_001267550.2(TTN):c.90944T>C (p.Ile30315Thr)
|
rs755698637
|
|
|
NM_001267550.2(TTN):c.90968G>C (p.Arg30323Thr)
|
rs11887722
|
|
|
NM_001267550.2(TTN):c.91+1G>A
|
rs2154360987
|
|
|
NM_001267550.2(TTN):c.91+5G>T
|
|
|
|
NM_001267550.2(TTN):c.91270+4A>G
|
rs1699482474
|
|
|
NM_001267550.2(TTN):c.91288G>A (p.Asp30430Asn)
|
rs1060500406
|
|
|
NM_001267550.2(TTN):c.914+3A>G
|
|
|
|
NM_001267550.2(TTN):c.914+4A>C
|
|
|
|
NM_001267550.2(TTN):c.915-2A>G
|
|
|
|
NM_001267550.2(TTN):c.91542TAT[1] (p.Ile30515del)
|
rs748002494
|
|
|
NM_001267550.2(TTN):c.91564+5G>A
|
rs758591518
|
|
|
NM_001267550.2(TTN):c.9163+1G>C
|
rs1060500549
|
|
|
NM_001267550.2(TTN):c.9164-1G>A
|
rs2090846146
|
|
|
NM_001267550.2(TTN):c.91707G>C (p.Lys30569Asn)
|
rs1060500543
|
|
|
NM_001267550.2(TTN):c.91753T>G (p.Phe30585Val)
|
rs1060500507
|
|
|
NM_001267550.2(TTN):c.91760_91762del (p.Arg30587_Asp30588delinsAsn)
|
rs1060500517
|
|
|
NM_001267550.2(TTN):c.91852+3A>G
|
|
|
|
NM_001267550.2(TTN):c.9192del (p.Lys3065fs)
|
|
|
|
NM_001267550.2(TTN):c.91999T>C (p.Trp30667Arg)
|
rs72648246
|
|
|
NM_001267550.2(TTN):c.92-1G>A
|
|
|
|
NM_001267550.2(TTN):c.9220C>T (p.Arg3074Ter)
|
rs780706937
|
|
|
NM_001267550.2(TTN):c.92350G>C (p.Gly30784Arg)
|
rs979303656
|
|
|
NM_001267550.2(TTN):c.92417C>A (p.Ala30806Glu)
|
rs1060500407
|
|
|
NM_001267550.2(TTN):c.92434C>A (p.Leu30812Ile)
|
rs776239659
|
|
|
NM_001267550.2(TTN):c.92691T>A (p.Ser30897Arg)
|
rs1553532921
|
|
|
NM_001267550.2(TTN):c.9270G>A (p.Trp3090Ter)
|
rs2154341535
|
|
|
NM_001267550.2(TTN):c.9290T>C (p.Leu3097Pro)
|
rs373366126
|
|
|
NM_001267550.2(TTN):c.9291_9292delinsTT (p.Gln3098Ter)
|
rs1574528825
|
|
|
NM_001267550.2(TTN):c.92944A>G (p.Thr30982Ala)
|
rs1060500555
|
|
|
NM_001267550.2(TTN):c.92979A>C (p.Lys30993Asn)
|
rs754893239
|
|
|
NM_001267550.2(TTN):c.93040C>G (p.Leu31014Val)
|
rs1060500404
|
|
|
NM_001267550.2(TTN):c.93047C>T (p.Thr31016Ile)
|
rs1553531270
|
|
|
NM_001267550.2(TTN):c.9305+4A>G
|
rs746628782
|
|
|
NM_001267550.2(TTN):c.93105G>T (p.Leu31035Phe)
|
rs1553531017
|
|
|
NM_001267550.2(TTN):c.93130G>T (p.Gly31044Cys)
|
rs750213547
|
|
|
NM_001267550.2(TTN):c.93178C>T (p.Arg31060Cys)
|
rs750303653
|
|
|
NM_001267550.2(TTN):c.9325A>T (p.Lys3109Ter)
|
|
|
|
NM_001267550.2(TTN):c.93601T>C (p.Phe31201Leu)
|
rs1553528695
|
|
|
NM_001267550.2(TTN):c.93607T>C (p.Ser31203Pro)
|
rs1553528649
|
|
|
NM_001267550.2(TTN):c.93646G>A (p.Asp31216Asn)
|
rs1321355074
|
|
|
NM_001267550.2(TTN):c.93665A>G (p.Asn31222Ser)
|
rs1559164640
|
|
|
NM_001267550.2(TTN):c.93680G>A (p.Cys31227Tyr)
|
rs1260979974
|
|
|
NM_001267550.2(TTN):c.93692G>A (p.Ser31231Asn)
|
rs1060500565
|
|
|
NM_001267550.2(TTN):c.9372dup (p.Gly3125fs)
|
|
|
|
NM_001267550.2(TTN):c.93988T>C (p.Trp31330Arg)
|
rs1553527043
|
|
|
NM_001267550.2(TTN):c.94052C>T (p.Ser31351Leu)
|
rs794729536
|
|
|
NM_001267550.2(TTN):c.94180C>T (p.Pro31394Ser)
|
rs1321500671
|
|
|
NM_001267550.2(TTN):c.9420_9421del (p.Phe3141fs)
|
rs2154341414
|
|
|
NM_001267550.2(TTN):c.94282C>A (p.Arg31428Ser)
|
rs190282707
|
|
|
NM_001267550.2(TTN):c.94282C>T (p.Arg31428Cys)
|
rs190282707
|
|
|
NM_001267550.2(TTN):c.94349G>A (p.Arg31450His)
|
rs751985617
|
|
|
NM_001267550.2(TTN):c.94399A>C (p.Asn31467His)
|
rs1553524710
|
|
|
NM_001267550.2(TTN):c.94436A>G (p.Tyr31479Cys)
|
rs879013044
|
|
|
NM_001267550.2(TTN):c.9448C>G (p.Arg3150Gly)
|
rs146572907
|
|
|
NM_001267550.2(TTN):c.94522+5G>T
|
rs767084102
|
|
|
NM_001267550.2(TTN):c.94523A>G (p.Asp31508Gly)
|
rs772571812
|
|
|
NM_001267550.2(TTN):c.9461del (p.Lys3154fs)
|
rs2154341391
|
|
|
NM_001267550.2(TTN):c.9472-1G>C
|
|
|
|
NM_001267550.2(TTN):c.9472-1G>T
|
|
|
|
NM_001267550.2(TTN):c.95146A>G (p.Thr31716Ala)
|
rs1575444115
|
|
|
NM_001267550.2(TTN):c.95152A>C (p.Ser31718Arg)
|
rs781462223
|
|
|
NM_001267550.2(TTN):c.95158G>A (p.Val31720Ile)
|
rs1575443877
|
|
|
NM_001267550.2(TTN):c.95173T>C (p.Cys31725Arg)
|
|
|
|
NM_001267550.2(TTN):c.95174G>A (p.Cys31725Tyr)
|
|
|
|
NM_001267550.2(TTN):c.95179T>G (p.Leu31727Val)
|
|
|
|
NM_001267550.2(TTN):c.95182G>A (p.Ala31728Thr)
|
|
|
|
NM_001267550.2(TTN):c.95188A>T (p.Ser31730Cys)
|
rs1213250473
|
|
|
NM_001267550.2(TTN):c.95190C>A (p.Ser31730Arg)
|
rs1696951026
|
|
|
NM_001267550.2(TTN):c.95191C>T (p.Leu31731Phe)
|
rs1364685585
|
|
|
NM_001267550.2(TTN):c.95206G>A (p.Gly31736Arg)
|
rs771799061
|
|
|
NM_001267550.2(TTN):c.95207G>C (p.Gly31736Ala)
|
rs1401862112
|
|
|
NM_001267550.2(TTN):c.95222C>T (p.Thr31741Ile)
|
rs1553521179
|
|
|
NM_001267550.2(TTN):c.95224C>G (p.His31742Asp)
|
|
|
|
NM_001267550.2(TTN):c.95240G>A (p.Arg31747Lys)
|
|
|
|
NM_001267550.2(TTN):c.95258T>C (p.Leu31753Pro)
|
|
|
|
NM_001267550.2(TTN):c.95265G>T (p.Trp31755Cys)
|
|
|
|
NM_001267550.2(TTN):c.95272G>C (p.Val31758Leu)
|
rs1696907299
|
|
|
NM_001267550.2(TTN):c.95279G>A (p.Gly31760Asp)
|
rs1696902914
|
|
|
NM_001267550.2(TTN):c.95290A>G (p.Thr31764Ala)
|
rs1175551497
|
|
|
NM_001267550.2(TTN):c.95300A>G (p.Tyr31767Cys)
|
rs1431446089
|
|
|
NM_001267550.2(TTN):c.95302G>A (p.Val31768Ile)
|
|
|
|
NM_001267550.2(TTN):c.95302G>C (p.Val31768Leu)
|
rs1696890603
|
|
|
NM_001267550.2(TTN):c.95314C>T (p.Leu31772Phe)
|
rs2154145497
|
|
|
NM_001267550.2(TTN):c.95326A>T (p.Asn31776Tyr)
|
rs2154145486
|
|
|
NM_001267550.2(TTN):c.95327A>G (p.Asn31776Ser)
|
rs1696881072
|
|
|
NM_001267550.2(TTN):c.95335A>C (p.Ile31779Leu)
|
rs886039071
|
|
|
NM_001267550.2(TTN):c.9533A>T (p.His3178Leu)
|
rs1334781459
|
|
|
NM_001267550.2(TTN):c.95342G>C (p.Arg31781Pro)
|
rs748984928
|
|
|
NM_001267550.2(TTN):c.95350G>A (p.Ala31784Thr)
|
|
|
|
NM_001267550.2(TTN):c.95351C>A (p.Ala31784Glu)
|
|
|
|
NM_001267550.2(TTN):c.95353G>A (p.Val31785Ile)
|
|
|
|
NM_001267550.2(TTN):c.95357A>G (p.Asn31786Ser)
|
rs1696865626
|
|
|
NM_001267550.2(TTN):c.95361A>T (p.Lys31787Asn)
|
|
|
|
NM_001267550.2(TTN):c.95368C>G (p.Pro31790Ala)
|
|
|
|
NM_001267550.2(TTN):c.95371G>C (p.Gly31791Arg)
|
rs1696856005
|
|
|
NM_001267550.2(TTN):c.95372G>C (p.Gly31791Ala)
|
rs869320744
|
|
|
NM_001267550.2(TTN):c.95374G>A (p.Val31792Met)
|
|
|
|
NM_001267550.2(TTN):c.95375T>G (p.Val31792Gly)
|
|
|
|
NM_001267550.2(TTN):c.95377C>A (p.Pro31793Thr)
|
rs1466581888
|
|
|
NM_001267550.2(TTN):c.9538T>C (p.Tyr3180His)
|
rs1553987902
|
|
|
NM_001267550.2(TTN):c.95404A>G (p.Arg31802Gly)
|
|
|
|
NM_001267550.2(TTN):c.95415C>G (p.Phe31805Leu)
|
rs587780983
|
|
|
NM_001267550.2(TTN):c.95416+5G>T
|
rs1696830213
|
|
|
NM_001267550.2(TTN):c.95480A>T (p.Gln31827Leu)
|
rs1553520567
|
|
|
NM_001267550.2(TTN):c.95484G>C (p.Trp31828Cys)
|
rs1553520556
|
|
|
NM_001267550.2(TTN):c.9548del (p.Gly3183fs)
|
rs2090460301
|
|
|
NM_001267550.2(TTN):c.9551T>C (p.Ile3184Thr)
|
rs1553987863
|
|
|
NM_001267550.2(TTN):c.95540G>C (p.Arg31847Pro)
|
rs771179752
|
|
|
NM_001267550.2(TTN):c.95543AGA[2] (p.Lys31850del)
|
rs727504556
|
|
|
NM_001267550.2(TTN):c.95560T>C (p.Trp31854Arg)
|
|
|
|
NM_001267550.2(TTN):c.95698T>C (p.Phe31900Leu)
|
rs1553520146
|
|
|
NM_001267550.2(TTN):c.9571C>A (p.Gln3191Lys)
|
rs33997263
|
|
|
NM_001267550.2(TTN):c.95722+3G>T
|
|
|
|
NM_001267550.2(TTN):c.95931G>A (p.Met31977Ile)
|
rs1575423808
|
|
|
NM_001267550.2(TTN):c.95968G>A (p.Val31990Met)
|
rs727503541
|
|
|
NM_001267550.2(TTN):c.96011A>G (p.Glu32004Gly)
|
rs1553519065
|
|
|
NM_001267550.2(TTN):c.96026T>G (p.Ile32009Arg)
|
rs375368824
|
|
|
NM_001267550.2(TTN):c.96235G>A (p.Asp32079Asn)
|
rs200540781
|
|
|
NM_001267550.2(TTN):c.96235G>C (p.Asp32079His)
|
rs200540781
|
|
|
NM_001267550.2(TTN):c.96378G>C (p.Trp32126Cys)
|
rs794729542
|
|
|
NM_001267550.2(TTN):c.96392T>C (p.Ile32131Thr)
|
rs978818932
|
|
|
NM_001267550.2(TTN):c.96406C>T (p.Pro32136Ser)
|
rs1553518099
|
|
|
NM_001267550.2(TTN):c.96445A>G (p.Met32149Val)
|
rs972033083
|
|
|
NM_001267550.2(TTN):c.96506T>C (p.Leu32169Pro)
|
rs2154143527
|
|
|
NM_001267550.2(TTN):c.9657del (p.Phe3220fs)
|
|
|
|
NM_001267550.2(TTN):c.96676C>A (p.Pro32226Thr)
|
rs1060500595
|
|
|
NM_001267550.2(TTN):c.96743G>A (p.Arg32248Lys)
|
rs967418486
|
|
|
NM_001267550.2(TTN):c.96868G>A (p.Glu32290Lys)
|
rs1060500512
|
|
|
NM_001267550.2(TTN):c.96904G>A (p.Val32302Met)
|
rs1339368168
|
|
|
NM_001267550.2(TTN):c.9703+5G>A
|
rs2090429977
|
|
|
NM_001267550.2(TTN):c.97054C>G (p.Arg32352Gly)
|
rs753874904
|
|
|
NM_001267550.2(TTN):c.9718dup (p.Gln3240fs)
|
|
|
|
NM_001267550.2(TTN):c.97192+5G>A
|
rs2154142801
|
|
|
NM_001267550.2(TTN):c.97204_97205delinsAG (p.Pro32402Arg)
|
rs864622675
|
|
|
NM_001267550.2(TTN):c.97283G>A (p.Gly32428Asp)
|
rs1060500592
|
|
|
NM_001267550.2(TTN):c.97318C>T (p.Arg32440Cys)
|
rs759932470
|
|
|
NM_001267550.2(TTN):c.97592T>C (p.Val32531Ala)
|
rs1060500477
|
|
|
NM_001267550.2(TTN):c.9761A>C (p.Lys3254Thr)
|
rs766499138
|
|
|
NM_001267550.2(TTN):c.97795G>A (p.Ala32599Thr)
|
rs1694398754
|
|
|
NM_001267550.2(TTN):c.97888T>G (p.Ser32630Ala)
|
rs1553512070
|
|
|
NM_001267550.2(TTN):c.97978T>G (p.Tyr32660Asp)
|
rs781416687
|
|
|
NM_001267550.2(TTN):c.97992C>A (p.His32664Gln)
|
rs794729549
|
|
|
NM_001267550.2(TTN):c.98051G>C (p.Gly32684Ala)
|
rs774041992
|
|
|
NM_001267550.2(TTN):c.98164A>C (p.Ile32722Leu)
|
rs72648270
|
|
|
NM_001267550.2(TTN):c.98214G>C (p.Trp32738Cys)
|
rs764039252
|
|
|
NM_001267550.2(TTN):c.98218A>G (p.Lys32740Glu)
|
rs1553510781
|
|
|
NM_001267550.2(TTN):c.98299A>G (p.Arg32767Gly)
|
rs1553510330
|
|
|
NM_001267550.2(TTN):c.9829C>T (p.Gln3277Ter)
|
|
|
|
NM_001267550.2(TTN):c.9841_9842del (p.Thr3281fs)
|
rs2090036916
|
|
|
NM_001267550.2(TTN):c.9849C>G (p.Phe3283Leu)
|
rs780860026
|
|
|
NM_001267550.2(TTN):c.98515C>A (p.Pro32839Thr)
|
rs949917519
|
|
|
NM_001267550.2(TTN):c.98683+3A>C
|
rs1693285723
|
|
|
NM_001267550.2(TTN):c.98683+3A>G
|
rs1693285723
|
|
|
NM_001267550.2(TTN):c.98758C>T (p.Arg32920Trp)
|
rs755031142
|
|
|
NM_001267550.2(TTN):c.98893G>C (p.Asp32965His)
|
rs186405108
|
|
|
NM_001267550.2(TTN):c.98959_98960delinsCT (p.Ser32987Leu)
|
rs727504588
|
|
|
NM_001267550.2(TTN):c.99080G>A (p.Gly33027Asp)
|
rs1060500594
|
|
|
NM_001267550.2(TTN):c.99162G>C (p.Lys33054Asn)
|
rs368686031
|
|
|
NM_001267550.2(TTN):c.99197C>G (p.Ala33066Gly)
|
rs1172364516
|
|
|
NM_001267550.2(TTN):c.99277A>T (p.Thr33093Ser)
|
rs748796464
|
|
|
NM_001267550.2(TTN):c.9932_9935del (p.Thr3310_Cys3311insTer)
|
rs2090019809
|
|
|
NM_001267550.2(TTN):c.99515C>A (p.Thr33172Asn)
|
rs1060500510
|
|
|
NM_001267550.2(TTN):c.99536T>A (p.Val33179Asp)
|
rs576759867
|
|
|
NM_001267550.2(TTN):c.99569T>G (p.Leu33190Arg)
|
rs1553504950
|
|
|
NM_001267550.2(TTN):c.99631G>A (p.Gly33211Ser)
|
rs1553504771
|
|
|
NM_001267550.2(TTN):c.99727A>G (p.Ile33243Val)
|
rs1553504488
|
|
|
NM_001267550.2(TTN):c.99774T>A (p.Asn33258Lys)
|
rs758792040
|
|
|
NM_001267550.2(TTN):c.99865+3A>T
|
rs1692081223
|
|
|
NM_001267550.2(TTN):c.9988G>T (p.Val3330Phe)
|
rs2090011986
|
|
|
NM_001276345.2(TNNT2):c.104A>T (p.Glu35Val)
|
|
|
|
NM_001276345.2(TNNT2):c.10A>G (p.Ile4Val)
|
rs139705141
|
|
|
NM_001276345.2(TNNT2):c.112G>A (p.Ala38Thr)
|
|
|
|
NM_001276345.2(TNNT2):c.118G>A (p.Glu40Lys)
|
rs2102283637
|
|
|
NM_001276345.2(TNNT2):c.121G>A (p.Asp41Asn)
|
rs748078123
|
|
|
NM_001276345.2(TNNT2):c.124G>A (p.Ala42Thr)
|
rs1571649102
|
|
|
NM_001276345.2(TNNT2):c.124G>T (p.Ala42Ser)
|
|
|
|
NM_001276345.2(TNNT2):c.131C>T (p.Ala44Val)
|
|
|
|
NM_001276345.2(TNNT2):c.134A>G (p.Glu45Gly)
|
|
|
|
NM_001276345.2(TNNT2):c.142A>G (p.Thr48Ala)
|
|
|
|
NM_001276345.2(TNNT2):c.146A>T (p.Glu49Val)
|
|
|
|
NM_001276345.2(TNNT2):c.149A>G (p.Glu50Gly)
|
|
|
|
NM_001276345.2(TNNT2):c.159del (p.Glu54fs)
|
|
|
|
NM_001276345.2(TNNT2):c.161A>T (p.Glu54Val)
|
|
|
|
NM_001276345.2(TNNT2):c.163+2T>C
|
|
|
|
NM_001276345.2(TNNT2):c.163+5G>A
|
rs727504254
|
|
|
NM_001276345.2(TNNT2):c.163G>A (p.Glu55Lys)
|
rs730881120
|
|
|
NM_001276345.2(TNNT2):c.163G>T (p.Glu55Ter)
|
rs730881120
|
|
|
NM_001276345.2(TNNT2):c.164-14C>A
|
|
|
|
NM_001276345.2(TNNT2):c.171AGA[2] (p.Glu61del)
|
rs781616719
|
|
|
NM_001276345.2(TNNT2):c.175G>A (p.Glu59Lys)
|
rs568628521
|
|
|
NM_001276345.2(TNNT2):c.180G>C (p.Glu60Asp)
|
|
|
|
NM_001276345.2(TNNT2):c.184G>A (p.Ala62Thr)
|
|
|
|
NM_001276345.2(TNNT2):c.199+4A>G
|
|
|
|
NM_001276345.2(TNNT2):c.199+5G>A
|
|
|
|
NM_001276345.2(TNNT2):c.1A>G (p.Met1Val)
|
rs1228403814
|
|
|
NM_001276345.2(TNNT2):c.200-1G>A
|
rs2102274124
|
|
|
NM_001276345.2(TNNT2):c.212A>C (p.Glu71Ala)
|
rs2102274024
|
|
|
NM_001276345.2(TNNT2):c.218C>A (p.Ser73Tyr)
|
|
|
|
NM_001276345.2(TNNT2):c.224C>A (p.Pro75Gln)
|
|
|
|
NM_001276345.2(TNNT2):c.226A>C (p.Lys76Gln)
|
rs2102273869
|
|
|
NM_001276345.2(TNNT2):c.233+3G>A
|
|
|
|
NM_001276345.2(TNNT2):c.233+9G>T
|
rs1553283445
|
|
|
NM_001276345.2(TNNT2):c.234-2A>G
|
rs1659534628
|
|
|
NM_001276345.2(TNNT2):c.234G>A (p.Arg78=)
|
|
|
|
NM_001276345.2(TNNT2):c.235T>A (p.Ser79Thr)
|
|
|
|
NM_001276345.2(TNNT2):c.236C>T (p.Ser79Leu)
|
rs761953142
|
|
|
NM_001276345.2(TNNT2):c.238T>C (p.Phe80Leu)
|
rs886039053
|
|
|
NM_001276345.2(TNNT2):c.243G>A (p.Met81Ile)
|
rs2102265521
|
|
|
NM_001276345.2(TNNT2):c.247A>G (p.Asn83Asp)
|
rs1060500235
|
|
|
NM_001276345.2(TNNT2):c.248A>C (p.Asn83Thr)
|
|
|
|
NM_001276345.2(TNNT2):c.251T>G (p.Leu84Trp)
|
|
|
|
NM_001276345.2(TNNT2):c.259C>A (p.Pro87Thr)
|
rs730881096
|
|
|
NM_001276345.2(TNNT2):c.262A>G (p.Lys88Glu)
|
rs1659525886
|
|
|
NM_001276345.2(TNNT2):c.264G>C (p.Lys88Asn)
|
|
|
|
NM_001276345.2(TNNT2):c.268C>A (p.Pro90Thr)
|
rs397516451
|
|
|
NM_001276345.2(TNNT2):c.268C>T (p.Pro90Ser)
|
rs397516451
|
|
|
NM_001276345.2(TNNT2):c.271G>A (p.Asp91Asn)
|
rs1571630555
|
|
|
NM_001276345.2(TNNT2):c.272_274del (p.Asp91del)
|
|
|
|
NM_001276345.2(TNNT2):c.282_285dup (p.Asp96fs)
|
|
|
|
NM_001276345.2(TNNT2):c.284T>C (p.Val95Ala)
|
rs2102264743
|
|
|
NM_001276345.2(TNNT2):c.290_293delinsCTCTCCATCCCCGATGGAGAGAGAG (p.Phe97_Asp98delinsSerLeuHisProArgTrpArgGluSer)
|
|
|
|
NM_001276345.2(TNNT2):c.294+11G>A
|
|
|
|
NM_001276345.2(TNNT2):c.294+2T>A
|
rs1659512591
|
|
|
NM_001276345.2(TNNT2):c.295-11T>A
|
|
|
|
NM_001276345.2(TNNT2):c.295-11T>G
|
|
|
|
NM_001276345.2(TNNT2):c.295-1G>A
|
rs113876817
|
|
|
NM_001276345.2(TNNT2):c.295G>C (p.Asp99His)
|
|
|
|
NM_001276345.2(TNNT2):c.302A>T (p.His101Leu)
|
rs1553282617
|
|
|
NM_001276345.2(TNNT2):c.313A>G (p.Met105Val)
|
rs397516458
|
|
|
NM_001276345.2(TNNT2):c.314T>A (p.Met105Lys)
|
|
|
|
NM_001276345.2(TNNT2):c.314T>C (p.Met105Thr)
|
|
|
|
NM_001276345.2(TNNT2):c.319A>G (p.Lys107Glu)
|
rs1659444898
|
|
|
NM_001276345.2(TNNT2):c.322G>C (p.Asp108His)
|
|
|
|
NM_001276345.2(TNNT2):c.323A>T (p.Asp108Val)
|
|
|
|
NM_001276345.2(TNNT2):c.333G>C (p.Glu111Asp)
|
rs1659441464
|
|
|
NM_001276345.2(TNNT2):c.337C>G (p.Gln113Glu)
|
rs2102261570
|
|
|
NM_001276345.2(TNNT2):c.340G>A (p.Ala114Thr)
|
rs1553282527
|
|
|
NM_001276345.2(TNNT2):c.340G>C (p.Ala114Pro)
|
rs1553282527
|
|
|
NM_001276345.2(TNNT2):c.344T>C (p.Leu115Pro)
|
rs1659438954
|
|
|
NM_001276345.2(TNNT2):c.347_348delinsCT (p.Ile116Thr)
|
rs1553282523
|
|
|
NM_001276345.2(TNNT2):c.34G>C (p.Glu12Gln)
|
rs760247765
|
|
|
NM_001276345.2(TNNT2):c.352G>A (p.Ala118Thr)
|
|
|
|
NM_001276345.2(TNNT2):c.362A>G (p.Glu121Gly)
|
rs2102261165
|
|
|
NM_001276345.2(TNNT2):c.364A>G (p.Asn122Asp)
|
rs1553282484
|
|
|
NM_001276345.2(TNNT2):c.369G>C (p.Arg123Ser)
|
rs1558230929
|
|
|
NM_001276345.2(TNNT2):c.375del (p.Glu126fs)
|
rs560019679
|
|
|
NM_001276345.2(TNNT2):c.377_378del (p.Glu126fs)
|
rs1246597926
|
|
|
NM_001276345.2(TNNT2):c.388C>G (p.Leu130Val)
|
|
|
|
NM_001276345.2(TNNT2):c.391G>C (p.Val131Leu)
|
rs537067344
|
|
|
NM_001276345.2(TNNT2):c.395C>A (p.Ser132Tyr)
|
rs1659426786
|
|
|
NM_001276345.2(TNNT2):c.397C>T (p.Leu133Phe)
|
|
|
|
NM_001276345.2(TNNT2):c.398T>G (p.Leu133Arg)
|
rs2102260711
|
|
|
NM_001276345.2(TNNT2):c.3G>A (p.Met1Ile)
|
rs1289914935
|
|
|
NM_001276345.2(TNNT2):c.407G>T (p.Arg136Met)
|
|
|
|
NM_001276345.2(TNNT2):c.40G>T (p.Glu14Ter)
|
|
|
|
NM_001276345.2(TNNT2):c.42-5C>G
|
|
|
|
NM_001276345.2(TNNT2):c.425C>T (p.Ala142Val)
|
|
|
|
NM_001276345.2(TNNT2):c.445C>T (p.Arg149Cys)
|
rs397516465
|
|
|
NM_001276345.2(TNNT2):c.448A>G (p.Ile150Val)
|
|
|
|
NM_001276345.2(TNNT2):c.451del (p.Arg151fs)
|
rs730881115
|
|
|
NM_001276345.2(TNNT2):c.463G>A (p.Glu155Lys)
|
rs984218824
|
|
|
NM_001276345.2(TNNT2):c.470A>G (p.Glu157Gly)
|
|
|
|
NM_001276345.2(TNNT2):c.473_474delinsAC (p.Arg158His)
|
rs1659257189
|
|
|
NM_001276345.2(TNNT2):c.476A>C (p.Gln159Pro)
|
|
|
|
NM_001276345.2(TNNT2):c.476A>T (p.Gln159Leu)
|
rs1659255484
|
|
|
NM_001276345.2(TNNT2):c.481C>T (p.Arg161Cys)
|
rs45608937
|
|
|
NM_001276345.2(TNNT2):c.487G>A (p.Ala163Thr)
|
rs727505030
|
|
|
NM_001276345.2(TNNT2):c.493G>T (p.Glu165Ter)
|
rs1558225837
|
|
|
NM_001276345.2(TNNT2):c.497G>A (p.Arg166Lys)
|
|
|
|
NM_001276345.2(TNNT2):c.4T>C (p.Ser2Pro)
|
rs765584396
|
|
|
NM_001276345.2(TNNT2):c.500C>G (p.Ala167Gly)
|
|
|
|
NM_001276345.2(TNNT2):c.502C>T (p.Arg168Ter)
|
|
|
|
NM_001276345.2(TNNT2):c.503G>A (p.Arg168Gln)
|
rs397516468
|
|
|
NM_001276345.2(TNNT2):c.503G>C (p.Arg168Pro)
|
rs397516468
|
|
|
NM_001276345.2(TNNT2):c.505C>G (p.Arg169Gly)
|
|
|
|
NM_001276345.2(TNNT2):c.508GAG[5] (p.Glu173dup)
|
rs397516470
|
|
|
NM_001276345.2(TNNT2):c.516_517delinsTT (p.Glu172_Glu173delinsAspTer)
|
rs730881118
|
|
|
NM_001276345.2(TNNT2):c.518A>G (p.Glu173Gly)
|
rs780067626
|
|
|
NM_001276345.2(TNNT2):c.529A>G (p.Lys177Glu)
|
rs2102245349
|
|
|
NM_001276345.2(TNNT2):c.52G>T (p.Glu18Ter)
|
|
|
|
NM_001276345.2(TNNT2):c.53-19G>A
|
rs2102308860
|
|
|
NM_001276345.2(TNNT2):c.53-6G>A
|
rs764862951
|
|
|
NM_001276345.2(TNNT2):c.550A>C (p.Lys184Gln)
|
|
|
|
NM_001276345.2(TNNT2):c.557A>T (p.Lys186Met)
|
rs1486862820
|
|
|
NM_001276345.2(TNNT2):c.55G>T (p.Ala19Ser)
|
|
|
|
NM_001276345.2(TNNT2):c.564G>C (p.Leu188Phe)
|
rs201270895
|
|
|
NM_001276345.2(TNNT2):c.571A>T (p.Met191Leu)
|
|
|
|
NM_001276345.2(TNNT2):c.572T>C (p.Met191Thr)
|
rs869025538
|
|
|
NM_001276345.2(TNNT2):c.573G>A (p.Met191Ile)
|
rs876658028
|
|
|
NM_001276345.2(TNNT2):c.574A>T (p.Met192Leu)
|
rs1553281184
|
|
|
NM_001276345.2(TNNT2):c.576G>A (p.Met192Ile)
|
|
|
|
NM_001276345.2(TNNT2):c.577C>T (p.His193Tyr)
|
rs753292088
|
|
|
NM_001276345.2(TNNT2):c.578A>G (p.His193Arg)
|
rs2102244668
|
|
|
NM_001276345.2(TNNT2):c.584G>T (p.Gly195Val)
|
rs1558224822
|
|
|
NM_001276345.2(TNNT2):c.58G>T (p.Ala20Ser)
|
|
|
|
NM_001276345.2(TNNT2):c.590A>G (p.Tyr197Cys)
|
rs1659042676
|
|
|
NM_001276345.2(TNNT2):c.593T>A (p.Ile198Asn)
|
rs878854148
|
|
|
NM_001276345.2(TNNT2):c.593T>C (p.Ile198Thr)
|
rs878854148
|
|
|
NM_001276345.2(TNNT2):c.59C>A (p.Ala20Asp)
|
|
|
|
NM_001276345.2(TNNT2):c.600+4G>C
|
rs372988386
|
|
|
NM_001276345.2(TNNT2):c.600+5G>A
|
rs1571614401
|
|
|
NM_001276345.2(TNNT2):c.600G>A (p.Lys200=)
|
|
|
|
NM_001276345.2(TNNT2):c.609+1G>A
|
|
|
|
NM_001276345.2(TNNT2):c.609+1G>T
|
|
|
|
NM_001276345.2(TNNT2):c.611C>T (p.Thr204Ile)
|
rs2102235172
|
|
|
NM_001276345.2(TNNT2):c.613G>C (p.Glu205Gln)
|
|
|
|
NM_001276345.2(TNNT2):c.614A>G (p.Glu205Gly)
|
rs1658740460
|
|
|
NM_001276345.2(TNNT2):c.614_615del (p.Glu205fs)
|
rs760664767
|
|
|
NM_001276345.2(TNNT2):c.619A>G (p.Lys207Glu)
|
rs1658737079
|
|
|
NM_001276345.2(TNNT2):c.61G>A (p.Val21Ile)
|
|
|
|
NM_001276345.2(TNNT2):c.620A>G (p.Lys207Arg)
|
|
|
|
NM_001276345.2(TNNT2):c.624T>G (p.Ser208Arg)
|
|
|
|
NM_001276345.2(TNNT2):c.632G>C (p.Arg211Thr)
|
|
|
|
NM_001276345.2(TNNT2):c.63dup (p.Glu22Ter)
|
|
|
|
NM_001276345.2(TNNT2):c.650AGA[2] (p.Lys219_Lys220del)
|
|
|
|
NM_001276345.2(TNNT2):c.655A>T (p.Lys219Ter)
|
rs1658729126
|
|
|
NM_001276345.2(TNNT2):c.659A>C (p.Lys220Thr)
|
|
|
|
NM_001276345.2(TNNT2):c.668C>T (p.Ala223Val)
|
|
|
|
NM_001276345.2(TNNT2):c.67+5G>A
|
|
|
|
NM_001276345.2(TNNT2):c.676A>G (p.Arg226Gly)
|
rs1658724713
|
|
|
NM_001276345.2(TNNT2):c.676A>T (p.Arg226Trp)
|
rs1658724713
|
|
|
NM_001276345.2(TNNT2):c.682G>C (p.Val228Leu)
|
rs397516479
|
|
|
NM_001276345.2(TNNT2):c.694G>T (p.Asp232Tyr)
|
rs1658720414
|
|
|
NM_001276345.2(TNNT2):c.709G>A (p.Asp237Asn)
|
|
|
|
NM_001276345.2(TNNT2):c.712C>G (p.Gln238Glu)
|
rs730881108
|
|
|
NM_001276345.2(TNNT2):c.719+1G>C
|
rs1169197265
|
|
|
NM_001276345.2(TNNT2):c.734A>G (p.Glu245Gly)
|
rs1658593284
|
|
|
NM_001276345.2(TNNT2):c.739T>C (p.Trp247Arg)
|
|
|
|
NM_001276345.2(TNNT2):c.764C>T (p.Ala255Val)
|
rs369181536
|
|
|
NM_001276345.2(TNNT2):c.768G>C (p.Glu256Asp)
|
|
|
|
NM_001276345.2(TNNT2):c.770A>C (p.Lys257Thr)
|
|
|
|
NM_001276345.2(TNNT2):c.771G>C (p.Lys257Asn)
|
|
|
|
NM_001276345.2(TNNT2):c.772T>C (p.Phe258Leu)
|
rs730881110
|
|
|
NM_001276345.2(TNNT2):c.776A>G (p.Asp259Gly)
|
rs1658581767
|
|
|
NM_001276345.2(TNNT2):c.779T>A (p.Leu260Gln)
|
rs376037051
|
|
|
NM_001276345.2(TNNT2):c.782A>G (p.Gln261Arg)
|
rs2102228802
|
|
|
NM_001276345.2(TNNT2):c.789_798delinsCTTGGGT (p.Lys263_Gln266delinsAsnLeuGly)
|
rs1658576787
|
|
|
NM_001276345.2(TNNT2):c.805T>C (p.Tyr269His)
|
rs730881112
|
|
|
NM_001276345.2(TNNT2):c.806A>G (p.Tyr269Cys)
|
rs1553280112
|
|
|
NM_001276345.2(TNNT2):c.808G>A (p.Glu270Lys)
|
rs1131691898
|
|
|
NM_001276345.2(TNNT2):c.810G>T (p.Glu270Asp)
|
rs1658572329
|
|
|
NM_001276345.2(TNNT2):c.811-11T>G
|
|
|
|
NM_001276345.2(TNNT2):c.811-5T>G
|
|
|
|
NM_001276345.2(TNNT2):c.817G>A (p.Val273Ile)
|
rs1571590208
|
|
|
NM_001276345.2(TNNT2):c.818T>C (p.Val273Ala)
|
rs1553279354
|
|
|
NM_001276345.2(TNNT2):c.818_819insACTCCGAAACAGGATCAACGT (p.Asn279_Asp280insValLeuArgAsnArgIleAsn)
|
|
|
|
NM_001276345.2(TNNT2):c.823C>A (p.Arg275=)
|
rs748970759
|
|
|
NM_001276345.2(TNNT2):c.824G>A (p.Arg275Gln)
|
rs730881125
|
|
|
NM_001276345.2(TNNT2):c.836A>G (p.Asn279Ser)
|
rs2102217035
|
|
|
NM_001276345.2(TNNT2):c.838G>A (p.Asp280Asn)
|
rs121964861
|
|
|
NM_001276345.2(TNNT2):c.838G>T (p.Asp280Tyr)
|
rs121964861
|
|
|
NM_001276345.2(TNNT2):c.841A>T (p.Asn281Tyr)
|
rs2102216937
|
|
|
NM_001276345.2(TNNT2):c.842A>G (p.Asn281Ser)
|
rs863225119
|
|
|
NM_001276345.2(TNNT2):c.844C>T (p.Gln282Ter)
|
rs796925245
|
|
|
NM_001276345.2(TNNT2):c.849A>G (p.Lys283=)
|
rs2102216749
|
|
|
NM_001276345.2(TNNT2):c.851+2dup
|
rs2102216666
|
|
|
NM_001276345.2(TNNT2):c.851+5G>A
|
rs193922620
|
|
|
NM_001276345.2(TNNT2):c.851+6T>A
|
|
|
|
NM_001276345.2(TNNT2):c.851T>C (p.Val284Ala)
|
|
|
|
NM_001276345.2(TNNT2):c.852-1G>T
|
rs730881114
|
|
|
NM_001276345.2(TNNT2):c.852-2A>C
|
rs111692981
|
|
|
NM_001276345.2(TNNT2):c.852-2A>G
|
rs111692981
|
|
|
NM_001276345.2(TNNT2):c.852-3C>G
|
rs749454768
|
|
|
NM_001276345.2(TNNT2):c.852-3C>T
|
rs749454768
|
|
|
NM_001276345.2(TNNT2):c.865G>A (p.Gly289Arg)
|
rs757664792
|
|
|
NM_001276345.2(TNNT2):c.865G>C (p.Gly289Arg)
|
rs757664792
|
|
|
NM_001276345.2(TNNT2):c.866G>A (p.Gly289Glu)
|
rs727505233
|
|
|
NM_001276345.2(TNNT2):c.868A>G (p.Lys290Glu)
|
|
|
|
NM_001276345.2(TNNT2):c.874A>G (p.Lys292Glu)
|
rs1553279043
|
|
|
NM_001276345.2(TNNT2):c.883G>C (p.Gly295Arg)
|
rs147940106
|
|
|
NM_001276345.2(TNNT2):c.891G>C (p.Trp297Cys)
|
|
|
|
NM_001276345.2(TNNT2):c.893A>C (p.Lys298Thr)
|
rs770794082
|
|
|
NM_001289808.2(CRYAB):c.104C>T (p.Ser35Phe)
|
rs1555165569
|
|
|
NM_001289808.2(CRYAB):c.115C>T (p.Pro39Ser)
|
rs145768025
|
|
|
NM_001289808.2(CRYAB):c.116C>A (p.Pro39Gln)
|
rs149787233
|
|
|
NM_001289808.2(CRYAB):c.131T>C (p.Leu44Pro)
|
rs1965457564
|
|
|
NM_001289808.2(CRYAB):c.149_163del (p.Arg50_Phe54del)
|
|
|
|
NM_001289808.2(CRYAB):c.173C>A (p.Pro58His)
|
|
|
|
NM_001289808.2(CRYAB):c.173C>T (p.Pro58Leu)
|
|
|
|
NM_001289808.2(CRYAB):c.17A>T (p.His6Leu)
|
rs1002278304
|
|
|
NM_001289808.2(CRYAB):c.187A>G (p.Thr63Ala)
|
rs375886627
|
|
|
NM_001289808.2(CRYAB):c.191G>A (p.Gly64Glu)
|
|
|
|
NM_001289808.2(CRYAB):c.193C>A (p.Leu65Ile)
|
|
|
|
NM_001289808.2(CRYAB):c.201+2_201+3dup
|
|
|
|
NM_001289808.2(CRYAB):c.201+5G>A
|
|
|
|
NM_001289808.2(CRYAB):c.201+5G>C
|
rs1555165537
|
|
|
NM_001289808.2(CRYAB):c.201G>A (p.Glu67=)
|
rs1965452797
|
|
|
NM_001289808.2(CRYAB):c.202-9_214dup
|
rs2137382055
|
|
|
NM_001289808.2(CRYAB):c.205C>A (p.Arg69Ser)
|
rs139750142
|
|
|
NM_001289808.2(CRYAB):c.205C>T (p.Arg69Cys)
|
rs139750142
|
|
|
NM_001289808.2(CRYAB):c.206G>T (p.Arg69Leu)
|
rs987496548
|
|
|
NM_001289808.2(CRYAB):c.215A>T (p.Lys72Met)
|
|
|
|
NM_001289808.2(CRYAB):c.21C>G (p.His7Gln)
|
rs1555165608
|
|
|
NM_001289808.2(CRYAB):c.220A>G (p.Arg74Gly)
|
rs781913291
|
|
|
NM_001289808.2(CRYAB):c.222G>C (p.Arg74Ser)
|
|
|
|
NM_001289808.2(CRYAB):c.246_248del (p.Lys82_His83delinsAsn)
|
|
|
|
NM_001289808.2(CRYAB):c.247C>G (p.His83Asp)
|
rs1965416729
|
|
|
NM_001289808.2(CRYAB):c.268A>G (p.Lys90Glu)
|
|
|
|
NM_001289808.2(CRYAB):c.269A>G (p.Lys90Arg)
|
|
|
|
NM_001289808.2(CRYAB):c.277G>C (p.Val93Leu)
|
rs547282752
|
|
|
NM_001289808.2(CRYAB):c.287A>G (p.Asp96Gly)
|
rs553865461
|
|
|
NM_001289808.2(CRYAB):c.290T>A (p.Val97Glu)
|
|
|
|
NM_001289808.2(CRYAB):c.302A>T (p.His101Leu)
|
rs1965414373
|
|
|
NM_001289808.2(CRYAB):c.319C>T (p.Arg107Cys)
|
rs782520163
|
|
|
NM_001289808.2(CRYAB):c.31C>G (p.Arg11Gly)
|
rs781902168
|
|
|
NM_001289808.2(CRYAB):c.320G>A (p.Arg107His)
|
|
|
|
NM_001289808.2(CRYAB):c.320G>T (p.Arg107Leu)
|
rs144451841
|
|
|
NM_001289808.2(CRYAB):c.324+3_324+4delinsGG
|
rs2137381725
|
|
|
NM_001289808.2(CRYAB):c.324+4T>A
|
rs11603779
|
|
|
NM_001289808.2(CRYAB):c.324+4_324+5delinsGA
|
rs1555165393
|
|
|
NM_001289808.2(CRYAB):c.324+4_324+5delinsGT
|
rs1555165393
|
|
|
NM_001289808.2(CRYAB):c.324+5G>T
|
|
|
|
NM_001289808.2(CRYAB):c.325-5G>T
|
|
|
|
NM_001289808.2(CRYAB):c.352T>G (p.Phe118Val)
|
|
|
|
NM_001289808.2(CRYAB):c.353T>C (p.Phe118Ser)
|
rs876657766
|
|
|
NM_001289808.2(CRYAB):c.35G>T (p.Arg12Leu)
|
|
|
|
NM_001289808.2(CRYAB):c.362A>C (p.Lys121Thr)
|
rs781915800
|
|
|
NM_001289808.2(CRYAB):c.373C>G (p.Pro125Ala)
|
rs374661019
|
|
|
NM_001289808.2(CRYAB):c.376del (p.Ala126fs)
|
rs2137378811
|
|
|
NM_001289808.2(CRYAB):c.381T>G (p.Asp127Glu)
|
rs1286547434
|
|
|
NM_001289808.2(CRYAB):c.386A>G (p.Asp129Gly)
|
|
|
|
NM_001289808.2(CRYAB):c.395C>T (p.Thr132Ile)
|
|
|
|
NM_001289808.2(CRYAB):c.397A>G (p.Ile133Val)
|
rs782672409
|
|
|
NM_001289808.2(CRYAB):c.401C>T (p.Thr134Ile)
|
rs2137378724
|
|
|
NM_001289808.2(CRYAB):c.40T>G (p.Phe14Val)
|
rs1555165595
|
|
|
NM_001289808.2(CRYAB):c.41T>C (p.Phe14Ser)
|
rs1555165594
|
|
|
NM_001289808.2(CRYAB):c.424G>T (p.Val142Phe)
|
rs1965359147
|
|
|
NM_001289808.2(CRYAB):c.427C>G (p.Leu143Val)
|
rs782629197
|
|
|
NM_001289808.2(CRYAB):c.433G>A (p.Val145Met)
|
|
|
|
NM_001289808.2(CRYAB):c.433G>C (p.Val145Leu)
|
rs781852612
|
|
|
NM_001289808.2(CRYAB):c.440G>T (p.Gly147Val)
|
|
|
|
NM_001289808.2(CRYAB):c.451C>G (p.Gln151Glu)
|
|
|
|
NM_001289808.2(CRYAB):c.457T>G (p.Ser153Ala)
|
rs1160682106
|
|
|
NM_001289808.2(CRYAB):c.464_465del (p.Pro155fs)
|
rs1566402514
|
|
|
NM_001289808.2(CRYAB):c.465dup (p.Glu156Ter)
|
|
|
|
NM_001289808.2(CRYAB):c.476T>A (p.Ile159Asn)
|
rs782115863
|
|
|
NM_001289808.2(CRYAB):c.47C>T (p.Pro16Leu)
|
rs868946460
|
|
|
NM_001289808.2(CRYAB):c.496A>T (p.Lys166Ter)
|
|
|
|
NM_001289808.2(CRYAB):c.499C>G (p.Pro167Ala)
|
rs1965354125
|
|
|
NM_001289808.2(CRYAB):c.499_505del (p.Pro167fs)
|
|
|
|
NM_001289808.2(CRYAB):c.503C>G (p.Ala168Gly)
|
rs2137378339
|
|
|
NM_001289808.2(CRYAB):c.511G>T (p.Ala171Ser)
|
|
|
|
NM_001289808.2(CRYAB):c.522G>T (p.Lys174Asn)
|
rs1965352034
|
|
|
NM_001289808.2(CRYAB):c.524A>T (p.Lys175Ile)
|
rs1965351856
|
|
|
NM_001289808.2(CRYAB):c.56C>A (p.Ser19Tyr)
|
|
|
|
NM_001289808.2(CRYAB):c.56C>T (p.Ser19Phe)
|
rs537074990
|
|
|
NM_001289808.2(CRYAB):c.57C>G (p.Ser19=)
|
|
|
|
NM_001289808.2(CRYAB):c.64C>T (p.Arg22Cys)
|
|
|
|
NM_001289808.2(CRYAB):c.76C>A (p.Gln26Lys)
|
rs1965461881
|
|
|
NM_001289808.2(CRYAB):c.78G>C (p.Gln26His)
|
|
|
|
NM_001289808.2(CRYAB):c.79TTC[1] (p.Phe28del)
|
|
|
|
NM_001289808.2(CRYAB):c.7A>G (p.Ile3Val)
|
|
|
|
NM_001289808.2(CRYAB):c.85G>A (p.Gly29Arg)
|
rs148500053
|
|
|
NM_001289808.2(CRYAB):c.86G>C (p.Gly29Ala)
|
rs1965460969
|
|
|
NM_001289808.2(CRYAB):c.88G>A (p.Glu30Lys)
|
|
|
|
NM_001318895.3(FHL2):c.109G>A (p.Ala37Thr)
|
rs74575749
|
|
|
NM_001318895.3(FHL2):c.10C>A (p.Arg4Ser)
|
|
|
|
NM_001318895.3(FHL2):c.11G>C (p.Arg4Pro)
|
rs369109946
|
|
|
NM_001318895.3(FHL2):c.121G>T (p.Glu41Ter)
|
rs552625336
|
|
|
NM_001318895.3(FHL2):c.125A>G (p.Glu42Gly)
|
rs1045395933
|
|
|
NM_001318895.3(FHL2):c.128G>A (p.Cys43Tyr)
|
rs745717988
|
|
|
NM_001318895.3(FHL2):c.139A>G (p.Ile47Val)
|
rs1682314685
|
|
|
NM_001318895.3(FHL2):c.142G>A (p.Gly48Ser)
|
rs777846521
|
|
|
NM_001318895.3(FHL2):c.154A>G (p.Lys52Glu)
|
|
|
|
NM_001318895.3(FHL2):c.157-3C>T
|
rs112533691
|
|
|
NM_001318895.3(FHL2):c.162G>T (p.Leu54Phe)
|
|
|
|
NM_001318895.3(FHL2):c.183G>T (p.Trp61Cys)
|
rs772913386
|
|
|
NM_001318895.3(FHL2):c.191C>G (p.Ala64Gly)
|
rs533310258
|
|
|
NM_001318895.3(FHL2):c.191C>T (p.Ala64Val)
|
|
|
|
NM_001318895.3(FHL2):c.208C>G (p.Gln70Glu)
|
|
|
|
NM_001318895.3(FHL2):c.210G>T (p.Gln70His)
|
|
|
|
NM_001318895.3(FHL2):c.218A>G (p.Asn73Ser)
|
|
|
|
NM_001318895.3(FHL2):c.219C>G (p.Asn73Lys)
|
rs1681256120
|
|
|
NM_001318895.3(FHL2):c.235C>G (p.Pro79Ala)
|
|
|
|
NM_001318895.3(FHL2):c.235_249del (p.Pro79_Lys83del)
|
|
|
|
NM_001318895.3(FHL2):c.254A>G (p.Asp85Gly)
|
|
|
|
NM_001318895.3(FHL2):c.269C>T (p.Thr90Ile)
|
|
|
|
NM_001318895.3(FHL2):c.278A>T (p.Tyr93Phe)
|
|
|
|
NM_001318895.3(FHL2):c.285C>G (p.Asn95Lys)
|
rs374383740
|
|
|
NM_001318895.3(FHL2):c.293C>T (p.Ser98Leu)
|
rs982423684
|
|
|
NM_001318895.3(FHL2):c.29G>A (p.Cys10Tyr)
|
rs1682328689
|
|
|
NM_001318895.3(FHL2):c.2T>C (p.Met1Thr)
|
|
|
|
NM_001318895.3(FHL2):c.307G>A (p.Glu103Lys)
|
rs1681246655
|
|
|
NM_001318895.3(FHL2):c.311G>A (p.Cys104Tyr)
|
|
|
|
NM_001318895.3(FHL2):c.331+6G>A
|
|
|
|
NM_001318895.3(FHL2):c.337dup (p.Arg113fs)
|
rs2104507065
|
|
|
NM_001318895.3(FHL2):c.338G>A (p.Arg113His)
|
rs752531815
|
|
|
NM_001318895.3(FHL2):c.338G>T (p.Arg113Leu)
|
|
|
|
NM_001318895.3(FHL2):c.388C>T (p.His130Tyr)
|
rs983602593
|
|
|
NM_001318895.3(FHL2):c.391C>T (p.Arg131Cys)
|
rs397517959
|
|
|
NM_001318895.3(FHL2):c.462T>G (p.Tyr154Ter)
|
|
|
|
NM_001318895.3(FHL2):c.475G>A (p.Ala159Thr)
|
rs1680725217
|
|
|
NM_001318895.3(FHL2):c.497A>G (p.Lys166Arg)
|
rs2104506293
|
|
|
NM_001318895.3(FHL2):c.4A>G (p.Thr2Ala)
|
|
|
|
NM_001318895.3(FHL2):c.501+5C>G
|
|
|
|
NM_001318895.3(FHL2):c.501+6T>C
|
|
|
|
NM_001318895.3(FHL2):c.502-1G>C
|
rs2104487265
|
|
|
NM_001318895.3(FHL2):c.521T>A (p.Val174Asp)
|
rs144442113
|
|
|
NM_001318895.3(FHL2):c.521T>C (p.Val174Ala)
|
rs144442113
|
|
|
NM_001318895.3(FHL2):c.529C>T (p.Arg177Trp)
|
|
|
|
NM_001318895.3(FHL2):c.533A>C (p.Glu178Ala)
|
rs1009986435
|
|
|
NM_001318895.3(FHL2):c.533del (p.Glu178fs)
|
rs1680417431
|
|
|
NM_001318895.3(FHL2):c.550G>A (p.Glu184Lys)
|
rs1573274516
|
|
|
NM_001318895.3(FHL2):c.559G>A (p.Val187Met)
|
rs570903247
|
|
|
NM_001318895.3(FHL2):c.559G>T (p.Val187Leu)
|
rs570903247
|
|
|
NM_001318895.3(FHL2):c.566_593del (p.Thr189fs)
|
|
|
|
NM_001318895.3(FHL2):c.568G>A (p.Ala190Thr)
|
rs1279971079
|
|
|
NM_001318895.3(FHL2):c.56A>G (p.Tyr19Cys)
|
|
|
|
NM_001318895.3(FHL2):c.56A>T (p.Tyr19Phe)
|
|
|
|
NM_001318895.3(FHL2):c.574A>G (p.Arg192Gly)
|
|
|
|
NM_001318895.3(FHL2):c.596G>A (p.Arg199His)
|
|
|
|
NM_001318895.3(FHL2):c.610G>A (p.Asp204Asn)
|
rs906250700
|
|
|
NM_001318895.3(FHL2):c.62T>A (p.Leu21Gln)
|
rs755805016
|
|
|
NM_001318895.3(FHL2):c.64C>T (p.Arg22Trp)
|
|
|
|
NM_001318895.3(FHL2):c.655A>C (p.Lys219Gln)
|
|
|
|
NM_001318895.3(FHL2):c.65G>A (p.Arg22Gln)
|
|
|
|
NM_001318895.3(FHL2):c.678C>A (p.Asn226Lys)
|
rs137869171
|
|
|
NM_001318895.3(FHL2):c.687C>T (p.Ser229=)
|
|
|
|
NM_001318895.3(FHL2):c.689-2A>G
|
rs1231396526
|
|
|
NM_001318895.3(FHL2):c.698_699delinsAA (p.Gly233Glu)
|
|
|
|
NM_001318895.3(FHL2):c.721G>A (p.Glu241Lys)
|
rs1680249986
|
|
|
NM_001318895.3(FHL2):c.729G>C (p.Gln243His)
|
|
|
|
NM_001318895.3(FHL2):c.731G>A (p.Trp244Ter)
|
rs2104477866
|
|
|
NM_001318895.3(FHL2):c.738C>G (p.Asn246Lys)
|
|
|
|
NM_001318895.3(FHL2):c.73dup (p.Ser25fs)
|
rs1682322677
|
|
|
NM_001318895.3(FHL2):c.742T>C (p.Cys248Arg)
|
rs2104477768
|
|
|
NM_001318895.3(FHL2):c.74G>A (p.Ser25Asn)
|
|
|
|
NM_001318895.3(FHL2):c.756G>T (p.Lys252Asn)
|
|
|
|
NM_001318895.3(FHL2):c.760T>C (p.Cys254Arg)
|
|
|
|
NM_001318895.3(FHL2):c.794C>G (p.Thr265Arg)
|
|
|
|
NM_001318895.3(FHL2):c.805G>A (p.Asp269Asn)
|
|
|
|
NM_001318895.3(FHL2):c.81C>A (p.Tyr27Ter)
|
rs727503060
|
|
|
NM_001318895.3(FHL2):c.82T>C (p.Cys28Arg)
|
|
|
|
NM_001318895.3(FHL2):c.86T>C (p.Val29Ala)
|
|
|
|
NM_001347702.2(SYNE1):c.1444G>A (p.Val482Ile)
|
rs1389837024
|
|
|
NM_001347702.2(SYNE1):c.1456G>A (p.Glu486Lys)
|
|
|
|
NM_001347702.2(SYNE1):c.1492G>T (p.Ala498Ser)
|
|
|
|
NM_001347702.2(SYNE1):c.1510G>A (p.Gly504Arg)
|
rs746655221
|
|
|
NM_001386795.1(DTNA):c.1002-2312T>C
|
|
|
|
NM_001386795.1(DTNA):c.1002-2319T>C
|
|
|
|
NM_001386795.1(DTNA):c.1011A>C (p.Arg337Ser)
|
rs2095889742
|
|
|
NM_001386795.1(DTNA):c.1028A>G (p.Asn343Ser)
|
rs774372435
|
|
|
NM_001386795.1(DTNA):c.1028A>T (p.Asn343Ile)
|
rs774372435
|
|
|
NM_001386795.1(DTNA):c.104A>G (p.Tyr35Cys)
|
|
|
|
NM_001386795.1(DTNA):c.1051G>A (p.Val351Ile)
|
|
|
|
NM_001386795.1(DTNA):c.1176-2A>G
|
|
|
|
NM_001386795.1(DTNA):c.1178C>G (p.Ser393Cys)
|
|
|
|
NM_001386795.1(DTNA):c.1179T>G (p.Ser393=)
|
|
|
|
NM_001386795.1(DTNA):c.117C>A (p.Cys39Ter)
|
|
|
|
NM_001386795.1(DTNA):c.1231C>G (p.Pro411Ala)
|
|
|
|
NM_001386795.1(DTNA):c.1249A>G (p.Lys417Glu)
|
rs2149711494
|
|
|
NM_001386795.1(DTNA):c.1253+18_1253+19delinsGT
|
|
|
|
NM_001386795.1(DTNA):c.1260G>T (p.Gln420His)
|
rs1603075327
|
|
|
NM_001386795.1(DTNA):c.1289C>T (p.Ala430Val)
|
rs375890182
|
|
|
NM_001386795.1(DTNA):c.1317T>C (p.Tyr439=)
|
|
|
|
NM_001386795.1(DTNA):c.1331G>A (p.Arg444Gln)
|
|
|
|
NM_001386795.1(DTNA):c.1343C>A (p.Ser448Ter)
|
rs2096209809
|
|
|
NM_001386795.1(DTNA):c.1343C>T (p.Ser448Leu)
|
|
|
|
NM_001386795.1(DTNA):c.1347-2A>T
|
rs2149869841
|
|
|
NM_001386795.1(DTNA):c.1347C>T (p.Cys449=)
|
|
|
|
NM_001386795.1(DTNA):c.1349T>C (p.Met450Thr)
|
rs956944215
|
|
|
NM_001386795.1(DTNA):c.1355A>G (p.Glu452Gly)
|
|
|
|
NM_001386795.1(DTNA):c.1414G>A (p.Ala472Thr)
|
rs2096417016
|
|
|
NM_001386795.1(DTNA):c.1435-3C>T
|
|
|
|
NM_001386795.1(DTNA):c.1442C>A (p.Pro481His)
|
rs1354941224
|
|
|
NM_001386795.1(DTNA):c.148+1G>A
|
|
|
|
NM_001386795.1(DTNA):c.1483G>A (p.Ala495Thr)
|
|
|
|
NM_001386795.1(DTNA):c.148T>G (p.Leu50Val)
|
rs1555778803
|
|
|
NM_001386795.1(DTNA):c.1498A>T (p.Arg500Trp)
|
|
|
|
NM_001386795.1(DTNA):c.1529A>G (p.Asn510Ser)
|
rs1270254305
|
|
|
NM_001386795.1(DTNA):c.1532+1G>T
|
|
|
|
NM_001386795.1(DTNA):c.1589C>A (p.Pro530His)
|
|
|
|
NM_001386795.1(DTNA):c.15T>A (p.Ser5Arg)
|
|
|
|
NM_001386795.1(DTNA):c.1619C>T (p.Thr540Ile)
|
|
|
|
NM_001386795.1(DTNA):c.1637G>T (p.Arg546Leu)
|
rs773504046
|
|
|
NM_001386795.1(DTNA):c.163A>G (p.Ile55Val)
|
rs1487690122
|
|
|
NM_001386795.1(DTNA):c.1651C>T (p.Arg551Cys)
|
rs2150150752
|
|
|
NM_001386795.1(DTNA):c.1671G>C (p.Gln557His)
|
|
|
|
NM_001386795.1(DTNA):c.1676T>C (p.Met559Thr)
|
|
|
|
NM_001386795.1(DTNA):c.16G>C (p.Gly6Arg)
|
|
|
|
NM_001386795.1(DTNA):c.1708A>G (p.Met570Val)
|
rs1250288261
|
|
|
NM_001386795.1(DTNA):c.1729A>G (p.Met577Val)
|
rs370629863
|
|
|
NM_001386795.1(DTNA):c.1743G>A (p.Lys581=)
|
|
|
|
NM_001386795.1(DTNA):c.1744-11T>C
|
|
|
|
NM_001386795.1(DTNA):c.1756G>A (p.Gly586Ser)
|
rs2150323740
|
|
|
NM_001386795.1(DTNA):c.1760C>G (p.Ser587Cys)
|
rs766127967
|
|
|
NM_001386795.1(DTNA):c.1766G>A (p.Arg589His)
|
rs200246467
|
|
|
NM_001386795.1(DTNA):c.1784C>T (p.Thr595Ile)
|
|
|
|
NM_001386795.1(DTNA):c.1786A>G (p.Ile596Val)
|
|
|
|
NM_001386795.1(DTNA):c.1792A>G (p.Arg598Gly)
|
|
|
|
NM_001386795.1(DTNA):c.1801C>A (p.Pro601Thr)
|
|
|
|
NM_001386795.1(DTNA):c.1810A>G (p.Ile604Val)
|
|
|
|
NM_001386795.1(DTNA):c.1814G>A (p.Arg605Gln)
|
|
|
|
NM_001386795.1(DTNA):c.1853A>G (p.Gln618Arg)
|
rs2096804507
|
|
|
NM_001386795.1(DTNA):c.1873G>A (p.Gly625Arg)
|
rs2150324967
|
|
|
NM_001386795.1(DTNA):c.187C>G (p.Arg63Gly)
|
rs773407468
|
|
|
NM_001386795.1(DTNA):c.1886A>G (p.Gln629Arg)
|
|
|
|
NM_001386795.1(DTNA):c.1894T>A (p.Phe632Ile)
|
|
|
|
NM_001386795.1(DTNA):c.1896T>A (p.Phe632Leu)
|
|
|
|
NM_001386795.1(DTNA):c.196G>T (p.Ala66Ser)
|
|
|
|
NM_001386795.1(DTNA):c.1993+5G>A
|
|
|
|
NM_001386795.1(DTNA):c.1995G>A (p.Glu665=)
|
|
|
|
NM_001386795.1(DTNA):c.2020G>A (p.Val674Met)
|
|
|
|
NM_001386795.1(DTNA):c.204del (p.Asn68fs)
|
|
|
|
NM_001386795.1(DTNA):c.2068C>T (p.Pro690Ser)
|
|
|
|
NM_001386795.1(DTNA):c.206A>C (p.Asn69Thr)
|
|
|
|
NM_001386795.1(DTNA):c.2086_2088dup (p.Phe696_Leu697insPhe)
|
|
|
|
NM_001386795.1(DTNA):c.209T>C (p.Leu70Pro)
|
rs1060503523
|
|
|
NM_001386795.1(DTNA):c.2114C>G (p.Pro705Arg)
|
|
|
|
NM_001386795.1(DTNA):c.2115del (p.Tyr707fs)
|
|
|
|
NM_001386795.1(DTNA):c.2130T>A (p.Ser710Arg)
|
|
|
|
NM_001386795.1(DTNA):c.2131G>A (p.Gly711Arg)
|
rs1320504182
|
|
|
NM_001386795.1(DTNA):c.2140A>G (p.Thr714Ala)
|
|
|
|
NM_001386795.1(DTNA):c.2150T>C (p.Met717Thr)
|
|
|
|
NM_001386795.1(DTNA):c.2152C>T (p.Arg718Cys)
|
|
|
|
NM_001386795.1(DTNA):c.2153G>T (p.Arg718Leu)
|
|
|
|
NM_001386795.1(DTNA):c.2158G>A (p.Asp720Asn)
|
|
|
|
NM_001386795.1(DTNA):c.2172G>C (p.Glu724Asp)
|
rs1297383915
|
|
|
NM_001386795.1(DTNA):c.2173G>A (p.Asp725Asn)
|
|
|
|
NM_001386795.1(DTNA):c.2191C>T (p.Gln731Ter)
|
|
|
|
NM_001386795.1(DTNA):c.2194C>G (p.Pro732Ala)
|
|
|
|
NM_001386795.1(DTNA):c.2207A>G (p.Asn736Ser)
|
|
|
|
NM_001386795.1(DTNA):c.220A>G (p.Thr74Ala)
|
|
|
|
NM_001386795.1(DTNA):c.2251A>T (p.Met751Leu)
|
|
|
|
NM_001386795.1(DTNA):c.232G>A (p.Val78Met)
|
rs1175132407
|
|
|
NM_001386795.1(DTNA):c.236C>T (p.Ser79Phe)
|
rs779579352
|
|
|
NM_001386795.1(DTNA):c.238C>T (p.Arg80Cys)
|
|
|
|
NM_001386795.1(DTNA):c.25G>C (p.Gly9Arg)
|
|
|
|
NM_001386795.1(DTNA):c.262A>G (p.Ile88Val)
|
|
|
|
NM_001386795.1(DTNA):c.271C>G (p.Gln91Glu)
|
|
|
|
NM_001386795.1(DTNA):c.284G>A (p.Arg95Gln)
|
rs2094870463
|
|
|
NM_001386795.1(DTNA):c.293C>T (p.Thr98Ile)
|
|
|
|
NM_001386795.1(DTNA):c.317A>T (p.Gln106Leu)
|
|
|
|
NM_001386795.1(DTNA):c.31A>G (p.Thr11Ala)
|
|
|
|
NM_001386795.1(DTNA):c.320C>A (p.Ser107Tyr)
|
|
|
|
NM_001386795.1(DTNA):c.353C>T (p.Ala118Val)
|
|
|
|
NM_001386795.1(DTNA):c.364G>A (p.Glu122Lys)
|
|
|
|
NM_001386795.1(DTNA):c.368G>A (p.Gly123Asp)
|
rs1435037181
|
|
|
NM_001386795.1(DTNA):c.381T>G (p.Ile127Met)
|
rs958850248
|
|
|
NM_001386795.1(DTNA):c.403G>T (p.Ala135Ser)
|
rs2149253090
|
|
|
NM_001386795.1(DTNA):c.433A>T (p.Met145Leu)
|
rs982526159
|
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|
NM_001386795.1(DTNA):c.436G>C (p.Asp146His)
|
|
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|
NM_001386795.1(DTNA):c.443T>C (p.Leu148Ser)
|
|
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|
NM_001386795.1(DTNA):c.472T>G (p.Ser158Ala)
|
rs2149331739
|
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NM_001386795.1(DTNA):c.4A>G (p.Ile2Val)
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NM_001386795.1(DTNA):c.4A>T (p.Ile2Phe)
|
rs984784834
|
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NM_001386795.1(DTNA):c.514C>T (p.Arg172Trp)
|
|
|
|
NM_001386795.1(DTNA):c.535A>G (p.Thr179Ala)
|
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|
NM_001386795.1(DTNA):c.560T>G (p.Phe187Cys)
|
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|
NM_001386795.1(DTNA):c.603+3A>G
|
rs2095496828
|
|
|
NM_001386795.1(DTNA):c.603+3dup
|
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NM_001386795.1(DTNA):c.605A>G (p.Lys202Arg)
|
|
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NM_001386795.1(DTNA):c.647A>T (p.Asp216Val)
|
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|
NM_001386795.1(DTNA):c.667G>T (p.Val223Phe)
|
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NM_001386795.1(DTNA):c.675G>C (p.Leu225Phe)
|
rs376519672
|
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NM_001386795.1(DTNA):c.754A>G (p.Met252Val)
|
|
|
|
NM_001386795.1(DTNA):c.754A>T (p.Met252Leu)
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|
NM_001386795.1(DTNA):c.770G>A (p.Arg257Gln)
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NM_001386795.1(DTNA):c.821G>A (p.Gly274Glu)
|
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|
NM_001386795.1(DTNA):c.823C>T (p.His275Tyr)
|
rs1555826918
|
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NM_001386795.1(DTNA):c.842G>A (p.Ser281Asn)
|
rs2095638594
|
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NM_001386795.1(DTNA):c.872_875dup (p.Trp292fs)
|
rs2095638924
|
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NM_001386795.1(DTNA):c.879A>G (p.Lys293=)
|
rs2095695910
|
|
|
NM_001386795.1(DTNA):c.88A>T (p.Ile30Phe)
|
rs1480526218
|
|
|
NM_001386795.1(DTNA):c.894G>T (p.Lys298Asn)
|
rs2095696064
|
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NM_001386795.1(DTNA):c.961C>G (p.Pro321Ala)
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NM_001386795.1(DTNA):c.977A>G (p.Lys326Arg)
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NM_001386795.1(DTNA):c.98C>T (p.Ser33Phe)
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NM_001386795.1(DTNA):c.991G>A (p.Ala331Thr)
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NM_001386795.1(DTNA):c.998T>G (p.Ile333Ser)
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NM_001386795.1(DTNA):c.9A>T (p.Glu3Asp)
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NM_001407276.1(TMEM43):c.883-2_883del
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NM_001449.4(FHL1):c.157-?_*1334+?dup
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NM_001458.5(FLNC):c.1003A>C (p.Thr335Pro)
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NM_001458.5(FLNC):c.1003A>G (p.Thr335Ala)
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NM_001458.5(FLNC):c.1007A>G (p.Tyr336Cys)
|
rs748723761
|
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NM_001458.5(FLNC):c.100T>G (p.Trp34Gly)
|
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NM_001458.5(FLNC):c.1012G>A (p.Val338Ile)
|
rs2128934331
|
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NM_001458.5(FLNC):c.1040T>C (p.Leu347Ser)
|
rs1554397631
|
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NM_001458.5(FLNC):c.1042C>T (p.His348Tyr)
|
rs2128934341
|
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NM_001458.5(FLNC):c.1043A>C (p.His348Pro)
|
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NM_001458.5(FLNC):c.1047+3A>G
|
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NM_001458.5(FLNC):c.1049T>C (p.Val350Ala)
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NM_001458.5(FLNC):c.1064C>T (p.Ala355Val)
|
rs1231559702
|
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NM_001458.5(FLNC):c.1066G>A (p.Gly356Ser)
|
rs1808183705
|
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NM_001458.5(FLNC):c.1067G>A (p.Gly356Asp)
|
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NM_001458.5(FLNC):c.1076T>C (p.Ile359Thr)
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NM_001458.5(FLNC):c.1087C>A (p.Pro363Thr)
|
rs2128934398
|
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NM_001458.5(FLNC):c.1087C>T (p.Pro363Ser)
|
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NM_001458.5(FLNC):c.109A>G (p.Ile37Val)
|
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NM_001458.5(FLNC):c.1102G>C (p.Val368Leu)
|
rs781718076
|
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NM_001458.5(FLNC):c.1106G>C (p.Gly369Ala)
|
rs754733061
|
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NM_001458.5(FLNC):c.1106G>T (p.Gly369Val)
|
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NM_001458.5(FLNC):c.110T>G (p.Ile37Ser)
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NM_001458.5(FLNC):c.1120G>A (p.Asp374Asn)
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NM_001458.5(FLNC):c.1129A>G (p.Lys377Glu)
|
rs1035933787
|
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NM_001458.5(FLNC):c.1131G>C (p.Lys377Asn)
|
rs1396483415
|
|
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NM_001458.5(FLNC):c.1135T>G (p.Ser379Ala)
|
rs746992457
|
|
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NM_001458.5(FLNC):c.1141C>G (p.Arg381Gly)
|
rs770692923
|
|
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NM_001458.5(FLNC):c.1156G>C (p.Glu386Gln)
|
rs1204536261
|
|
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NM_001458.5(FLNC):c.1159C>T (p.Pro387Ser)
|
|
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|
NM_001458.5(FLNC):c.1160C>G (p.Pro387Arg)
|
rs765434369
|
|
|
NM_001458.5(FLNC):c.1162G>C (p.Val388Leu)
|
rs1484540724
|
|
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NM_001458.5(FLNC):c.1175C>A (p.Ala392Asp)
|
rs1808189981
|
|
|
NM_001458.5(FLNC):c.1187C>A (p.Thr396Asn)
|
rs2128934429
|
|
|
NM_001458.5(FLNC):c.11A>G (p.Asn4Ser)
|
|
|
|
NM_001458.5(FLNC):c.1208C>A (p.Ala403Glu)
|
rs777199447
|
|
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NM_001458.5(FLNC):c.1210+4G>A
|
rs2128934436
|
|
|
NM_001458.5(FLNC):c.1210+5G>A
|
rs770923888
|
|
|
NM_001458.5(FLNC):c.1222G>A (p.Gly408Ser)
|
rs2128934484
|
|
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NM_001458.5(FLNC):c.1234G>C (p.Val412Leu)
|
|
|
|
NM_001458.5(FLNC):c.1242C>G (p.Ile414Met)
|
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|
NM_001458.5(FLNC):c.1246G>A (p.Asp416Asn)
|
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|
NM_001458.5(FLNC):c.1248C>A (p.Asp416Glu)
|
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|
NM_001458.5(FLNC):c.1250C>A (p.Pro417Gln)
|
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NM_001458.5(FLNC):c.1255G>A (p.Gly419Ser)
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NM_001458.5(FLNC):c.1258C>G (p.Arg420Gly)
|
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|
|
NM_001458.5(FLNC):c.125T>G (p.Phe42Cys)
|
rs777706683
|
|
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NM_001458.5(FLNC):c.1265A>G (p.Asp422Gly)
|
|
|
|
NM_001458.5(FLNC):c.127A>C (p.Thr43Pro)
|
rs1807852947
|
|
|
NM_001458.5(FLNC):c.1282C>G (p.Leu428Val)
|
rs1585154042
|
|
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NM_001458.5(FLNC):c.1286A>C (p.Glu429Ala)
|
rs1031308521
|
|
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NM_001458.5(FLNC):c.1295G>T (p.Gly432Val)
|
rs750350780
|
|
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NM_001458.5(FLNC):c.1301G>A (p.Ser434Asn)
|
rs1585154054
|
|
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NM_001458.5(FLNC):c.1303A>G (p.Thr435Ala)
|
rs1808206478
|
|
|
NM_001458.5(FLNC):c.1309C>G (p.Arg437Gly)
|
rs374847180
|
|
|
NM_001458.5(FLNC):c.130C>T (p.Arg44Cys)
|
rs2128932137
|
|
|
NM_001458.5(FLNC):c.131G>C (p.Arg44Pro)
|
|
|
|
NM_001458.5(FLNC):c.131G>T (p.Arg44Leu)
|
rs1807853136
|
|
|
NM_001458.5(FLNC):c.1325C>A (p.Pro442His)
|
rs1554397822
|
|
|
NM_001458.5(FLNC):c.1331T>C (p.Met444Thr)
|
|
|
|
NM_001458.5(FLNC):c.1332G>A (p.Met444Ile)
|
rs1343786191
|
|
|
NM_001458.5(FLNC):c.133T>A (p.Trp45Arg)
|
|
|
|
NM_001458.5(FLNC):c.1349T>C (p.Val450Ala)
|
|
|
|
NM_001458.5(FLNC):c.1351C>T (p.His451Tyr)
|
|
|
|
NM_001458.5(FLNC):c.1352A>C (p.His451Pro)
|
rs1808209347
|
|
|
NM_001458.5(FLNC):c.1372C>A (p.Pro458Thr)
|
rs369747694
|
|
|
NM_001458.5(FLNC):c.1373C>G (p.Pro458Arg)
|
rs1808210779
|
|
|
NM_001458.5(FLNC):c.1382G>A (p.Arg461His)
|
rs377587489
|
|
|
NM_001458.5(FLNC):c.1382G>T (p.Arg461Leu)
|
rs377587489
|
|
|
NM_001458.5(FLNC):c.1394C>T (p.Pro465Leu)
|
|
|
|
NM_001458.5(FLNC):c.139A>G (p.Asn47Asp)
|
|
|
|
NM_001458.5(FLNC):c.13A>G (p.Ser5Gly)
|
rs2128932075
|
|
|
NM_001458.5(FLNC):c.1411G>A (p.Ala471Thr)
|
|
|
|
NM_001458.5(FLNC):c.1412-3T>C
|
|
|
|
NM_001458.5(FLNC):c.1415G>A (p.Cys472Tyr)
|
|
|
|
NM_001458.5(FLNC):c.1420C>T (p.Pro474Ser)
|
rs1562993431
|
|
|
NM_001458.5(FLNC):c.142_162dup (p.Glu48_Gly54dup)
|
rs1807853629
|
|
|
NM_001458.5(FLNC):c.1433G>C (p.Arg478Pro)
|
|
|
|
NM_001458.5(FLNC):c.1445G>A (p.Arg482Gln)
|
rs770337434
|
|
|
NM_001458.5(FLNC):c.1448G>A (p.Gly483Asp)
|
rs1562993476
|
|
|
NM_001458.5(FLNC):c.1454A>G (p.Gln485Arg)
|
rs1012536919
|
|
|
NM_001458.5(FLNC):c.1462G>A (p.Gly488Ser)
|
|
|
|
NM_001458.5(FLNC):c.1469G>T (p.Arg490Leu)
|
rs1046320257
|
|
|
NM_001458.5(FLNC):c.1471G>C (p.Val491Leu)
|
rs770264114
|
|
|
NM_001458.5(FLNC):c.1484C>G (p.Ala495Gly)
|
|
|
|
NM_001458.5(FLNC):c.1484C>T (p.Ala495Val)
|
|
|
|
NM_001458.5(FLNC):c.148C>G (p.Leu50Val)
|
|
|
|
NM_001458.5(FLNC):c.1499T>C (p.Phe500Ser)
|
rs2128934879
|
|
|
NM_001458.5(FLNC):c.1502C>T (p.Thr501Ile)
|
rs794727967
|
|
|
NM_001458.5(FLNC):c.1508G>T (p.Gly503Val)
|
rs1483134760
|
|
|
NM_001458.5(FLNC):c.1510G>A (p.Ala504Thr)
|
rs1562993551
|
|
|
NM_001458.5(FLNC):c.1514G>A (p.Gly505Asp)
|
|
|
|
NM_001458.5(FLNC):c.1517G>A (p.Ser506Asn)
|
rs1554398094
|
|
|
NM_001458.5(FLNC):c.1525C>G (p.Leu509Val)
|
|
|
|
NM_001458.5(FLNC):c.1525C>T (p.Leu509Phe)
|
|
|
|
NM_001458.5(FLNC):c.1529A>T (p.Lys510Met)
|
|
|
|
NM_001458.5(FLNC):c.1535C>A (p.Thr512Lys)
|
rs775538827
|
|
|
NM_001458.5(FLNC):c.1541A>C (p.Lys514Thr)
|
rs375881193
|
|
|
NM_001458.5(FLNC):c.1543G>A (p.Gly515Arg)
|
|
|
|
NM_001458.5(FLNC):c.1544G>A (p.Gly515Glu)
|
|
|
|
NM_001458.5(FLNC):c.1564C>G (p.Pro522Ala)
|
rs1808287052
|
|
|
NM_001458.5(FLNC):c.1565C>T (p.Pro522Leu)
|
|
|
|
NM_001458.5(FLNC):c.157G>T (p.Val53Leu)
|
|
|
|
NM_001458.5(FLNC):c.1582G>A (p.Ala528Thr)
|
|
|
|
NM_001458.5(FLNC):c.1586G>T (p.Gly529Val)
|
rs2128935018
|
|
|
NM_001458.5(FLNC):c.1598T>G (p.Phe533Cys)
|
|
|
|
NM_001458.5(FLNC):c.1599C>A (p.Phe533Leu)
|
rs768072902
|
|
|
NM_001458.5(FLNC):c.1600G>C (p.Glu534Gln)
|
rs201905890
|
|
|
NM_001458.5(FLNC):c.1603T>G (p.Cys535Gly)
|
rs1808289781
|
|
|
NM_001458.5(FLNC):c.1607A>G (p.Glu536Gly)
|
rs2128935033
|
|
|
NM_001458.5(FLNC):c.1618G>T (p.Val540Leu)
|
rs551472827
|
|
|
NM_001458.5(FLNC):c.161G>T (p.Gly54Val)
|
rs1032152678
|
|
|
NM_001458.5(FLNC):c.1628G>A (p.Gly543Glu)
|
rs1221769888
|
|
|
NM_001458.5(FLNC):c.1640T>C (p.Val547Ala)
|
|
|
|
NM_001458.5(FLNC):c.1646T>C (p.Ile549Thr)
|
|
|
|
NM_001458.5(FLNC):c.1649C>A (p.Thr550Lys)
|
|
|
|
NM_001458.5(FLNC):c.1651T>C (p.Trp551Arg)
|
|
|
|
NM_001458.5(FLNC):c.1654G>T (p.Gly552Cys)
|
|
|
|
NM_001458.5(FLNC):c.1655G>T (p.Gly552Val)
|
|
|
|
NM_001458.5(FLNC):c.1672C>T (p.Arg558Cys)
|
rs370326975
|
|
|
NM_001458.5(FLNC):c.1676+2dup
|
rs2128935058
|
|
|
NM_001458.5(FLNC):c.1676+3G>A
|
|
|
|
NM_001458.5(FLNC):c.1677-3C>G
|
|
|
|
NM_001458.5(FLNC):c.1682T>C (p.Phe561Ser)
|
|
|
|
NM_001458.5(FLNC):c.1688T>C (p.Val563Ala)
|
rs774963796
|
|
|
NM_001458.5(FLNC):c.1693G>A (p.Val565Met)
|
|
|
|
NM_001458.5(FLNC):c.1693G>T (p.Val565Leu)
|
|
|
|
NM_001458.5(FLNC):c.1696A>T (p.Ser566Cys)
|
|
|
|
NM_001458.5(FLNC):c.16G>A (p.Gly6Ser)
|
rs1284761356
|
|
|
NM_001458.5(FLNC):c.16G>C (p.Gly6Arg)
|
rs1284761356
|
|
|
NM_001458.5(FLNC):c.1706C>T (p.Ala569Val)
|
rs2128935115
|
|
|
NM_001458.5(FLNC):c.1709G>C (p.Gly570Ala)
|
|
|
|
NM_001458.5(FLNC):c.170T>C (p.Leu57Pro)
|
rs1585147774
|
|
|
NM_001458.5(FLNC):c.1711G>A (p.Val571Met)
|
rs1194021325
|
|
|
NM_001458.5(FLNC):c.1712T>C (p.Val571Ala)
|
rs750817835
|
|
|
NM_001458.5(FLNC):c.1723C>A (p.Arg575=)
|
|
|
|
NM_001458.5(FLNC):c.1723C>T (p.Arg575Trp)
|
rs761117952
|
|
|
NM_001458.5(FLNC):c.1724G>C (p.Arg575Pro)
|
rs764751276
|
|
|
NM_001458.5(FLNC):c.1735C>A (p.Pro579Thr)
|
rs1808303402
|
|
|
NM_001458.5(FLNC):c.1748C>T (p.Thr583Ile)
|
rs2128935128
|
|
|
NM_001458.5(FLNC):c.1756G>T (p.Val586Leu)
|
|
|
|
NM_001458.5(FLNC):c.1774T>C (p.Phe592Leu)
|
|
|
|
NM_001458.5(FLNC):c.1790T>C (p.Ile597Thr)
|
|
|
|
NM_001458.5(FLNC):c.179T>A (p.Leu60Gln)
|
rs1807855891
|
|
|
NM_001458.5(FLNC):c.179T>G (p.Leu60Arg)
|
|
|
|
NM_001458.5(FLNC):c.1801G>A (p.Val601Met)
|
rs762652248
|
|
|
NM_001458.5(FLNC):c.1810C>A (p.Leu604Met)
|
|
|
|
NM_001458.5(FLNC):c.1811T>C (p.Leu604Pro)
|
|
|
|
NM_001458.5(FLNC):c.1813G>A (p.Gly605Ser)
|
rs1562994122
|
|
|
NM_001458.5(FLNC):c.1814-3C>G
|
rs1162747854
|
|
|
NM_001458.5(FLNC):c.1814G>C (p.Gly605Ala)
|
|
|
|
NM_001458.5(FLNC):c.1816T>G (p.Phe606Val)
|
rs1808316775
|
|
|
NM_001458.5(FLNC):c.1822A>T (p.Ile608Phe)
|
|
|
|
NM_001458.5(FLNC):c.1824C>G (p.Ile608Met)
|
rs753007069
|
|
|
NM_001458.5(FLNC):c.1825G>C (p.Glu609Gln)
|
rs758389160
|
|
|
NM_001458.5(FLNC):c.1831C>T (p.Pro611Ser)
|
|
|
|
NM_001458.5(FLNC):c.1847T>A (p.Ile616Asn)
|
|
|
|
NM_001458.5(FLNC):c.1848C>G (p.Ile616Met)
|
rs770173704
|
|
|
NM_001458.5(FLNC):c.1851A>T (p.Glu617Asp)
|
rs199715890
|
|
|
NM_001458.5(FLNC):c.1855GAC[1] (p.Asp620del)
|
|
|
|
NM_001458.5(FLNC):c.1857C>G (p.Asp619Glu)
|
rs771469976
|
|
|
NM_001458.5(FLNC):c.1858G>A (p.Asp620Asn)
|
rs567514134
|
|
|
NM_001458.5(FLNC):c.1858G>C (p.Asp620His)
|
rs567514134
|
|
|
NM_001458.5(FLNC):c.1862A>T (p.Lys621Met)
|
|
|
|
NM_001458.5(FLNC):c.1871G>C (p.Gly624Ala)
|
|
|
|
NM_001458.5(FLNC):c.187G>T (p.Asp63Tyr)
|
|
|
|
NM_001458.5(FLNC):c.1882G>A (p.Val628Met)
|
|
|
|
NM_001458.5(FLNC):c.1893G>C (p.Trp631Cys)
|
rs1808320936
|
|
|
NM_001458.5(FLNC):c.1895C>A (p.Pro632His)
|
rs1482049894
|
|
|
NM_001458.5(FLNC):c.1903C>T (p.Pro635Ser)
|
|
|
|
NM_001458.5(FLNC):c.1915G>A (p.Ala639Thr)
|
rs1175392094
|
|
|
NM_001458.5(FLNC):c.1915G>T (p.Ala639Ser)
|
|
|
|
NM_001458.5(FLNC):c.1927A>C (p.Ile643Leu)
|
rs1808322583
|
|
|
NM_001458.5(FLNC):c.1927A>G (p.Ile643Val)
|
rs1808322583
|
|
|
NM_001458.5(FLNC):c.1934A>C (p.Asp645Ala)
|
rs1554398369
|
|
|
NM_001458.5(FLNC):c.1935_1937del (p.Asp646del)
|
rs765300084
|
|
|
NM_001458.5(FLNC):c.1945_1953dup (p.Ile649_Asp651dup)
|
rs1554398377
|
|
|
NM_001458.5(FLNC):c.1949G>A (p.Arg650Gln)
|
|
|
|
NM_001458.5(FLNC):c.1958C>T (p.Pro653Leu)
|
rs1808324139
|
|
|
NM_001458.5(FLNC):c.195C>A (p.Ser65Arg)
|
|
|
|
NM_001458.5(FLNC):c.1963A>G (p.Ile655Val)
|
rs2128935277
|
|
|
NM_001458.5(FLNC):c.1975C>G (p.Leu659Val)
|
|
|
|
NM_001458.5(FLNC):c.197A>C (p.Asp66Ala)
|
|
|
|
NM_001458.5(FLNC):c.197A>G (p.Asp66Gly)
|
|
|
|
NM_001458.5(FLNC):c.1994G>A (p.Cys665Tyr)
|
|
|
|
NM_001458.5(FLNC):c.199G>A (p.Gly67Arg)
|
|
|
|
NM_001458.5(FLNC):c.2007+6G>A
|
rs757293841
|
|
|
NM_001458.5(FLNC):c.2008-3C>T
|
|
|
|
NM_001458.5(FLNC):c.2008G>A (p.Val670Met)
|
|
|
|
NM_001458.5(FLNC):c.200G>T (p.Gly67Val)
|
rs1807857687
|
|
|
NM_001458.5(FLNC):c.2033A>G (p.Glu678Gly)
|
rs1232073461
|
|
|
NM_001458.5(FLNC):c.2035C>T (p.Pro679Ser)
|
rs1808331792
|
|
|
NM_001458.5(FLNC):c.2036C>T (p.Pro679Leu)
|
rs975517733
|
|
|
NM_001458.5(FLNC):c.2047A>G (p.Ile683Val)
|
|
|
|
NM_001458.5(FLNC):c.2050G>C (p.Val684Leu)
|
rs769221710
|
|
|
NM_001458.5(FLNC):c.2052G>A (p.Val684=)
|
rs1554398437
|
|
|
NM_001458.5(FLNC):c.2053G>A (p.Asp685Asn)
|
|
|
|
NM_001458.5(FLNC):c.2059C>T (p.Pro687Ser)
|
|
|
|
NM_001458.5(FLNC):c.2062G>C (p.Ala688Pro)
|
rs774194364
|
|
|
NM_001458.5(FLNC):c.2062G>T (p.Ala688Ser)
|
rs774194364
|
|
|
NM_001458.5(FLNC):c.2072C>T (p.Thr691Ile)
|
rs2128935358
|
|
|
NM_001458.5(FLNC):c.2083C>T (p.Arg695Cys)
|
|
|
|
NM_001458.5(FLNC):c.2084G>T (p.Arg695Leu)
|
rs766592492
|
|
|
NM_001458.5(FLNC):c.2090C>T (p.Ala697Val)
|
|
|
|
NM_001458.5(FLNC):c.2092G>A (p.Gly698Ser)
|
rs1461903090
|
|
|
NM_001458.5(FLNC):c.2093G>A (p.Gly698Asp)
|
rs1562994518
|
|
|
NM_001458.5(FLNC):c.2094C>T (p.Gly698=)
|
rs1585156683
|
|
|
NM_001458.5(FLNC):c.2099G>A (p.Gly700Glu)
|
|
|
|
NM_001458.5(FLNC):c.2107_2119delinsT (p.Lys703_Gln707delinsTer)
|
rs1585156701
|
|
|
NM_001458.5(FLNC):c.2108A>G (p.Lys703Arg)
|
rs753914864
|
|
|
NM_001458.5(FLNC):c.211A>G (p.Ile71Val)
|
rs1250893880
|
|
|
NM_001458.5(FLNC):c.2122-6C>G
|
rs1808361488
|
|
|
NM_001458.5(FLNC):c.2124C>A (p.Asp708Glu)
|
rs187481700
|
|
|
NM_001458.5(FLNC):c.2125G>T (p.Ala709Ser)
|
|
|
|
NM_001458.5(FLNC):c.212T>C (p.Ile71Thr)
|
rs1554396387
|
|
|
NM_001458.5(FLNC):c.2130C>A (p.Asp710Glu)
|
rs778781499
|
|
|
NM_001458.5(FLNC):c.2131_2145del (p.Gly711_Asp715del)
|
|
|
|
NM_001458.5(FLNC):c.2142C>G (p.Ile714Met)
|
rs199595235
|
|
|
NM_001458.5(FLNC):c.2146A>G (p.Ile716Val)
|
rs1808363671
|
|
|
NM_001458.5(FLNC):c.2149A>G (p.Lys717Glu)
|
|
|
|
NM_001458.5(FLNC):c.2150A>T (p.Lys717Met)
|
|
|
|
NM_001458.5(FLNC):c.2155A>T (p.Ile719Phe)
|
rs1808363999
|
|
|
NM_001458.5(FLNC):c.215C>T (p.Ala72Val)
|
rs893814984
|
|
|
NM_001458.5(FLNC):c.2168A>T (p.Asp723Val)
|
rs1808365040
|
|
|
NM_001458.5(FLNC):c.2171G>A (p.Gly724Asp)
|
rs1554398553
|
|
|
NM_001458.5(FLNC):c.2171G>T (p.Gly724Val)
|
|
|
|
NM_001458.5(FLNC):c.2188_2205del (p.Tyr730_Pro735del)
|
rs2128935556
|
|
|
NM_001458.5(FLNC):c.2189A>G (p.Tyr730Cys)
|
|
|
|
NM_001458.5(FLNC):c.2194C>T (p.Pro732Ser)
|
rs1562994905
|
|
|
NM_001458.5(FLNC):c.2201A>G (p.Lys734Arg)
|
rs1585157281
|
|
|
NM_001458.5(FLNC):c.2202G>C (p.Lys734Asn)
|
rs769984017
|
|
|
NM_001458.5(FLNC):c.2206A>G (p.Ile736Val)
|
rs2128935565
|
|
|
NM_001458.5(FLNC):c.2218A>G (p.Ile740Val)
|
|
|
|
NM_001458.5(FLNC):c.2219T>C (p.Ile740Thr)
|
rs2128935573
|
|
|
NM_001458.5(FLNC):c.2224A>G (p.Ile742Val)
|
rs769224072
|
|
|
NM_001458.5(FLNC):c.2227T>C (p.Ser743Pro)
|
|
|
|
NM_001458.5(FLNC):c.2228C>T (p.Ser743Phe)
|
|
|
|
NM_001458.5(FLNC):c.2228_2230del (p.Ser743del)
|
rs2128935577
|
|
|
NM_001458.5(FLNC):c.2245G>C (p.Val749Leu)
|
rs763901270
|
|
|
NM_001458.5(FLNC):c.2246T>A (p.Val749Glu)
|
rs932445396
|
|
|
NM_001458.5(FLNC):c.2248C>G (p.Pro750Ala)
|
rs1808369718
|
|
|
NM_001458.5(FLNC):c.2249C>T (p.Pro750Leu)
|
|
|
|
NM_001458.5(FLNC):c.2254A>G (p.Ser752Gly)
|
|
|
|
NM_001458.5(FLNC):c.2255G>A (p.Ser752Asn)
|
|
|
|
NM_001458.5(FLNC):c.2275G>C (p.Gly759Arg)
|
|
|
|
NM_001458.5(FLNC):c.2286C>G (p.Ser762Arg)
|
rs1160582987
|
|
|
NM_001458.5(FLNC):c.231_232insGTATGC (p.Leu77_Ser78insValCys)
|
rs2128932197
|
|
|
NM_001458.5(FLNC):c.2321T>C (p.Val774Ala)
|
rs1808383222
|
|
|
NM_001458.5(FLNC):c.232A>G (p.Ser78Gly)
|
rs746082496
|
|
|
NM_001458.5(FLNC):c.2335C>T (p.Leu779Phe)
|
rs2128935691
|
|
|
NM_001458.5(FLNC):c.2338A>G (p.Lys780Glu)
|
|
|
|
NM_001458.5(FLNC):c.2347G>A (p.Glu783Lys)
|
|
|
|
NM_001458.5(FLNC):c.234_235insTCGTATGCAGCTCGTATG (p.Ser78_Gln79insSerTyrAlaAlaArgMet)
|
rs2128932203
|
|
|
NM_001458.5(FLNC):c.2351C>G (p.Pro784Arg)
|
rs2128935692
|
|
|
NM_001458.5(FLNC):c.2359T>C (p.Phe787Leu)
|
|
|
|
NM_001458.5(FLNC):c.2360T>C (p.Phe787Ser)
|
rs760513917
|
|
|
NM_001458.5(FLNC):c.2363C>G (p.Thr788Arg)
|
rs1010774264
|
|
|
NM_001458.5(FLNC):c.2368G>A (p.Asp790Asn)
|
|
|
|
NM_001458.5(FLNC):c.2383G>A (p.Gly795Arg)
|
rs1196887010
|
|
|
NM_001458.5(FLNC):c.2389+14G>T
|
rs2128935710
|
|
|
NM_001458.5(FLNC):c.2389+18G>A
|
|
|
|
NM_001458.5(FLNC):c.2392G>T (p.Asp798Tyr)
|
rs778594252
|
|
|
NM_001458.5(FLNC):c.2395G>A (p.Val799Met)
|
rs1345929888
|
|
|
NM_001458.5(FLNC):c.2401A>T (p.Ile801Phe)
|
|
|
|
NM_001458.5(FLNC):c.2404G>C (p.Gly802Arg)
|
|
|
|
NM_001458.5(FLNC):c.2413T>C (p.Cys805Arg)
|
|
|
|
NM_001458.5(FLNC):c.2415C>G (p.Cys805Trp)
|
|
|
|
NM_001458.5(FLNC):c.2416G>C (p.Ala806Pro)
|
|
|
|
NM_001458.5(FLNC):c.2417C>A (p.Ala806Asp)
|
|
|
|
NM_001458.5(FLNC):c.241C>T (p.Arg81Cys)
|
rs1374458008
|
|
|
NM_001458.5(FLNC):c.2426TGG[1] (p.Val810del)
|
rs1585157919
|
|
|
NM_001458.5(FLNC):c.2428G>C (p.Val810Leu)
|
rs763153223
|
|
|
NM_001458.5(FLNC):c.2432G>C (p.Gly811Ala)
|
|
|
|
NM_001458.5(FLNC):c.2434C>T (p.Pro812Ser)
|
rs1808396338
|
|
|
NM_001458.5(FLNC):c.244A>C (p.Met82Leu)
|
rs2128932209
|
|
|
NM_001458.5(FLNC):c.2459A>T (p.Asp820Val)
|
rs886044638
|
|
|
NM_001458.5(FLNC):c.245T>A (p.Met82Lys)
|
rs1807859917
|
|
|
NM_001458.5(FLNC):c.245T>G (p.Met82Arg)
|
rs1807859917
|
|
|
NM_001458.5(FLNC):c.2460C>A (p.Asp820Glu)
|
|
|
|
NM_001458.5(FLNC):c.246G>A (p.Met82Ile)
|
rs1554396403
|
|
|
NM_001458.5(FLNC):c.2470A>T (p.Asn824Tyr)
|
rs1562995383
|
|
|
NM_001458.5(FLNC):c.2474A>G (p.Asp825Gly)
|
rs559621589
|
|
|
NM_001458.5(FLNC):c.2476_2478del (p.Asn826del)
|
rs1188205440
|
|
|
NM_001458.5(FLNC):c.2478C>A (p.Asn826Lys)
|
|
|
|
NM_001458.5(FLNC):c.2494A>C (p.Lys832Gln)
|
rs2128935786
|
|
|
NM_001458.5(FLNC):c.2506C>T (p.Pro836Ser)
|
rs1422445527
|
|
|
NM_001458.5(FLNC):c.2507C>T (p.Pro836Leu)
|
rs199652368
|
|
|
NM_001458.5(FLNC):c.250C>G (p.Arg84Gly)
|
|
|
|
NM_001458.5(FLNC):c.2512G>A (p.Ala838Thr)
|
rs1808400610
|
|
|
NM_001458.5(FLNC):c.2513C>G (p.Ala838Gly)
|
|
|
|
NM_001458.5(FLNC):c.251G>C (p.Arg84Pro)
|
|
|
|
NM_001458.5(FLNC):c.2521T>C (p.Tyr841His)
|
rs2128935808
|
|
|
NM_001458.5(FLNC):c.2527A>T (p.Ile843Phe)
|
rs973425855
|
|
|
NM_001458.5(FLNC):c.2528T>C (p.Ile843Thr)
|
|
|
|
NM_001458.5(FLNC):c.2531T>C (p.Met844Thr)
|
|
|
|
NM_001458.5(FLNC):c.2539T>C (p.Phe847Leu)
|
|
|
|
NM_001458.5(FLNC):c.2542G>A (p.Ala848Thr)
|
|
|
|
NM_001458.5(FLNC):c.2546A>G (p.Asn849Ser)
|
rs755425307
|
|
|
NM_001458.5(FLNC):c.2550+3A>T
|
|
|
|
NM_001458.5(FLNC):c.2550+3dup
|
|
|
|
NM_001458.5(FLNC):c.2550+4C>G
|
|
|
|
NM_001458.5(FLNC):c.2550G>A (p.Gln850=)
|
rs1585158097
|
|
|
NM_001458.5(FLNC):c.2551-3C>T
|
rs1293024920
|
|
|
NM_001458.5(FLNC):c.2553G>T (p.Glu851Asp)
|
|
|
|
NM_001458.5(FLNC):c.2555T>C (p.Ile852Thr)
|
rs111482519
|
|
|
NM_001458.5(FLNC):c.2565C>G (p.Ser855Arg)
|
|
|
|
NM_001458.5(FLNC):c.2582T>G (p.Val861Gly)
|
rs749269317
|
|
|
NM_001458.5(FLNC):c.2587C>T (p.Pro863Ser)
|
rs754750752
|
|
|
NM_001458.5(FLNC):c.2604C>A (p.Ser868Arg)
|
|
|
|
NM_001458.5(FLNC):c.2604C>G (p.Ser868Arg)
|
rs2128935920
|
|
|
NM_001458.5(FLNC):c.2608G>A (p.Val870Ile)
|
|
|
|
NM_001458.5(FLNC):c.2621G>A (p.Gly874Asp)
|
rs2128935929
|
|
|
NM_001458.5(FLNC):c.2624C>G (p.Pro875Arg)
|
rs1418979185
|
|
|
NM_001458.5(FLNC):c.2628G>T (p.Gly876=)
|
rs2128935936
|
|
|
NM_001458.5(FLNC):c.2630_2631insTCT (p.Leu877_Asn878insLeu)
|
|
|
|
NM_001458.5(FLNC):c.2633A>G (p.Asn878Ser)
|
|
|
|
NM_001458.5(FLNC):c.2641+5G>C
|
rs2128935942
|
|
|
NM_001458.5(FLNC):c.2642-2dup
|
|
|
|
NM_001458.5(FLNC):c.2644G>A (p.Val882Met)
|
|
|
|
NM_001458.5(FLNC):c.266G>A (p.Arg89His)
|
rs1554396410
|
|
|
NM_001458.5(FLNC):c.2699C>T (p.Ala900Val)
|
|
|
|
NM_001458.5(FLNC):c.269C>G (p.Pro90Arg)
|
rs1807861341
|
|
|
NM_001458.5(FLNC):c.2701A>C (p.Lys901Gln)
|
rs2128935990
|
|
|
NM_001458.5(FLNC):c.2703G>T (p.Lys901Asn)
|
rs1554398845
|
|
|
NM_001458.5(FLNC):c.2707G>A (p.Asp903Asn)
|
rs781591239
|
|
|
NM_001458.5(FLNC):c.2707G>C (p.Asp903His)
|
|
|
|
NM_001458.5(FLNC):c.2710G>A (p.Val904Met)
|
rs1340231541
|
|
|
NM_001458.5(FLNC):c.2710G>T (p.Val904Leu)
|
|
|
|
NM_001458.5(FLNC):c.2711T>G (p.Val904Gly)
|
rs2128935993
|
|
|
NM_001458.5(FLNC):c.2714A>G (p.Gln905Arg)
|
|
|
|
NM_001458.5(FLNC):c.2718T>G (p.Phe906Leu)
|
|
|
|
NM_001458.5(FLNC):c.272A>C (p.Asn91Thr)
|
rs886042565
|
|
|
NM_001458.5(FLNC):c.272A>G (p.Asn91Ser)
|
|
|
|
NM_001458.5(FLNC):c.2731A>C (p.Lys911Gln)
|
|
|
|
NM_001458.5(FLNC):c.2734G>A (p.Gly912Ser)
|
rs1808427228
|
|
|
NM_001458.5(FLNC):c.2735G>A (p.Gly912Asp)
|
|
|
|
NM_001458.5(FLNC):c.2738A>G (p.Glu913Gly)
|
|
|
|
NM_001458.5(FLNC):c.273C>A (p.Asn91Lys)
|
rs1807861563
|
|
|
NM_001458.5(FLNC):c.2747G>T (p.Arg916Leu)
|
rs143720860
|
|
|
NM_001458.5(FLNC):c.2771A>C (p.His924Pro)
|
|
|
|
NM_001458.5(FLNC):c.2776T>G (p.Tyr926Asp)
|
rs1808429467
|
|
|
NM_001458.5(FLNC):c.2779T>C (p.Ser927Pro)
|
|
|
|
NM_001458.5(FLNC):c.277C>T (p.Arg93Cys)
|
rs762326127
|
|
|
NM_001458.5(FLNC):c.2780C>A (p.Ser927Tyr)
|
rs1585158690
|
|
|
NM_001458.5(FLNC):c.2780_2782del (p.Ser927del)
|
rs1808429673
|
|
|
NM_001458.5(FLNC):c.2782T>A (p.Tyr928Asn)
|
rs1808429909
|
|
|
NM_001458.5(FLNC):c.2782T>C (p.Tyr928His)
|
rs1808429909
|
|
|
NM_001458.5(FLNC):c.2794T>A (p.Tyr932Asn)
|
rs1808430365
|
|
|
NM_001458.5(FLNC):c.2797A>C (p.Thr933Pro)
|
rs2128936026
|
|
|
NM_001458.5(FLNC):c.2798C>G (p.Thr933Ser)
|
|
|
|
NM_001458.5(FLNC):c.2807A>T (p.Gln936Leu)
|
rs2128936027
|
|
|
NM_001458.5(FLNC):c.2811+3G>A
|
|
|
|
NM_001458.5(FLNC):c.2812-4A>G
|
|
|
|
NM_001458.5(FLNC):c.2812-8C>G
|
|
|
|
NM_001458.5(FLNC):c.2813G>C (p.Gly938Ala)
|
|
|
|
NM_001458.5(FLNC):c.2815A>G (p.Asn939Asp)
|
|
|
|
NM_001458.5(FLNC):c.2819T>A (p.Met940Lys)
|
rs2128936077
|
|
|
NM_001458.5(FLNC):c.2825T>C (p.Val942Ala)
|
rs1808440244
|
|
|
NM_001458.5(FLNC):c.2830G>A (p.Val944Met)
|
rs2128936081
|
|
|
NM_001458.5(FLNC):c.2833A>G (p.Thr945Ala)
|
|
|
|
NM_001458.5(FLNC):c.2840G>A (p.Gly947Asp)
|
|
|
|
NM_001458.5(FLNC):c.2845G>T (p.Asp949Tyr)
|
rs761905908
|
|
|
NM_001458.5(FLNC):c.2847C>A (p.Asp949Glu)
|
rs1808441944
|
|
|
NM_001458.5(FLNC):c.2847C>G (p.Asp949Glu)
|
rs1808441944
|
|
|
NM_001458.5(FLNC):c.2851G>T (p.Val951Phe)
|
rs760566825
|
|
|
NM_001458.5(FLNC):c.2855C>T (p.Pro952Leu)
|
|
|
|
NM_001458.5(FLNC):c.2857A>G (p.Lys953Glu)
|
|
|
|
NM_001458.5(FLNC):c.2862C>G (p.Ser954Arg)
|
rs766581831
|
|
|
NM_001458.5(FLNC):c.2876A>G (p.Asn959Ser)
|
|
|
|
NM_001458.5(FLNC):c.2879T>C (p.Val960Ala)
|
rs568452175
|
|
|
NM_001458.5(FLNC):c.2884C>T (p.Pro962Ser)
|
|
|
|
NM_001458.5(FLNC):c.2885C>A (p.Pro962His)
|
|
|
|
NM_001458.5(FLNC):c.2890C>A (p.Leu964Met)
|
rs1562996103
|
|
|
NM_001458.5(FLNC):c.2897T>C (p.Leu966Pro)
|
rs2128936106
|
|
|
NM_001458.5(FLNC):c.2900G>A (p.Ser967Asn)
|
|
|
|
NM_001458.5(FLNC):c.2907C>G (p.Ile969Met)
|
|
|
|
NM_001458.5(FLNC):c.290T>C (p.Leu97Pro)
|
rs1585147935
|
|
|
NM_001458.5(FLNC):c.290T>G (p.Leu97Arg)
|
rs1585147935
|
|
|
NM_001458.5(FLNC):c.2911G>C (p.Val971Leu)
|
rs548199973
|
|
|
NM_001458.5(FLNC):c.2915A>G (p.Gln972Arg)
|
|
|
|
NM_001458.5(FLNC):c.2917G>A (p.Gly973Ser)
|
rs2128936113
|
|
|
NM_001458.5(FLNC):c.2929+5G>A
|
|
|
|
NM_001458.5(FLNC):c.2929+5G>C
|
|
|
|
NM_001458.5(FLNC):c.2929+6T>G
|
rs2128936121
|
|
|
NM_001458.5(FLNC):c.292G>A (p.Glu98Lys)
|
rs1195481399
|
|
|
NM_001458.5(FLNC):c.2930-4G>T
|
rs747623690
|
|
|
NM_001458.5(FLNC):c.2930-5C>G
|
rs371599113
|
|
|
NM_001458.5(FLNC):c.2938G>C (p.Val980Leu)
|
|
|
|
NM_001458.5(FLNC):c.2953G>A (p.Ala985Thr)
|
rs1179474749
|
|
|
NM_001458.5(FLNC):c.2972G>A (p.Arg991Gln)
|
|
|
|
NM_001458.5(FLNC):c.2975G>A (p.Gly992Glu)
|
rs1419637272
|
|
|
NM_001458.5(FLNC):c.2978C>T (p.Ala993Val)
|
rs2128936160
|
|
|
NM_001458.5(FLNC):c.297C>G (p.Asn99Lys)
|
|
|
|
NM_001458.5(FLNC):c.2981G>T (p.Gly994Val)
|
|
|
|
NM_001458.5(FLNC):c.2984G>A (p.Gly995Asp)
|
rs1808452430
|
|
|
NM_001458.5(FLNC):c.3005G>T (p.Arg1002Leu)
|
|
|
|
NM_001458.5(FLNC):c.3007A>C (p.Met1003Leu)
|
rs1808453806
|
|
|
NM_001458.5(FLNC):c.301T>C (p.Ser101Pro)
|
|
|
|
NM_001458.5(FLNC):c.301_302delinsAA (p.Ser101Asn)
|
rs2128932233
|
|
|
NM_001458.5(FLNC):c.3022C>A (p.Arg1008Ser)
|
|
|
|
NM_001458.5(FLNC):c.3023G>T (p.Arg1008Leu)
|
|
|
|
NM_001458.5(FLNC):c.3025C>G (p.Arg1009Gly)
|
|
|
|
NM_001458.5(FLNC):c.3026G>A (p.Arg1009Gln)
|
rs375445167
|
|
|
NM_001458.5(FLNC):c.3026G>T (p.Arg1009Leu)
|
|
|
|
NM_001458.5(FLNC):c.302C>T (p.Ser101Phe)
|
rs1554396416
|
|
|
NM_001458.5(FLNC):c.3032T>C (p.Ile1011Thr)
|
rs1808454823
|
|
|
NM_001458.5(FLNC):c.3052G>A (p.Gly1018Ser)
|
rs2128936181
|
|
|
NM_001458.5(FLNC):c.3056G>A (p.Gly1019Asp)
|
|
|
|
NM_001458.5(FLNC):c.3058G>A (p.Gly1020Arg)
|
rs2128936185
|
|
|
NM_001458.5(FLNC):c.3065A>C (p.Glu1022Ala)
|
rs1808455747
|
|
|
NM_001458.5(FLNC):c.3067G>A (p.Ala1023Thr)
|
rs376107866
|
|
|
NM_001458.5(FLNC):c.3076G>A (p.Val1026Met)
|
rs1808456380
|
|
|
NM_001458.5(FLNC):c.3088C>A (p.Pro1030Thr)
|
rs1554399034
|
|
|
NM_001458.5(FLNC):c.3088C>T (p.Pro1030Ser)
|
|
|
|
NM_001458.5(FLNC):c.3089C>G (p.Pro1030Arg)
|
rs2128936198
|
|
|
NM_001458.5(FLNC):c.3092C>G (p.Pro1031Arg)
|
rs372467579
|
|
|
NM_001458.5(FLNC):c.3096G>C (p.Glu1032Asp)
|
|
|
|
NM_001458.5(FLNC):c.3107A>C (p.Tyr1036Ser)
|
|
|
|
NM_001458.5(FLNC):c.3109A>G (p.Lys1037Glu)
|
|
|
|
NM_001458.5(FLNC):c.3115G>A (p.Asp1039Asn)
|
rs1808458838
|
|
|
NM_001458.5(FLNC):c.3118A>T (p.Ile1040Phe)
|
|
|
|
NM_001458.5(FLNC):c.3122C>T (p.Thr1041Ile)
|
rs557380928
|
|
|
NM_001458.5(FLNC):c.3136C>G (p.Pro1046Ala)
|
rs749099313
|
|
|
NM_001458.5(FLNC):c.3142C>T (p.Pro1048Ser)
|
|
|
|
NM_001458.5(FLNC):c.3143C>T (p.Pro1048Leu)
|
rs2128936216
|
|
|
NM_001458.5(FLNC):c.3145_3146delinsTT (p.Gly1049Phe)
|
rs1585159401
|
|
|
NM_001458.5(FLNC):c.3151C>T (p.Pro1051Ser)
|
|
|
|
NM_001458.5(FLNC):c.3160G>A (p.Val1054Met)
|
|
|
|
NM_001458.5(FLNC):c.3166G>A (p.Gly1056Ser)
|
rs1287987501
|
|
|
NM_001458.5(FLNC):c.3167G>A (p.Gly1056Asp)
|
rs763807492
|
|
|
NM_001458.5(FLNC):c.3175C>G (p.Pro1059Ala)
|
rs767119310
|
|
|
NM_001458.5(FLNC):c.3178C>G (p.Pro1060Ala)
|
rs2128936236
|
|
|
NM_001458.5(FLNC):c.3187T>C (p.Ser1063Pro)
|
|
|
|
NM_001458.5(FLNC):c.31G>T (p.Gly11Cys)
|
rs370512642
|
|
|
NM_001458.5(FLNC):c.3217A>C (p.Lys1073Gln)
|
rs2128936345
|
|
|
NM_001458.5(FLNC):c.3234C>T (p.Gly1078=)
|
rs1808479678
|
|
|
NM_001458.5(FLNC):c.3236C>A (p.Thr1079Asn)
|
rs2128936356
|
|
|
NM_001458.5(FLNC):c.3238C>T (p.Pro1080Ser)
|
rs950648783
|
|
|
NM_001458.5(FLNC):c.3247T>A (p.Phe1083Ile)
|
rs1354409050
|
|
|
NM_001458.5(FLNC):c.3247T>C (p.Phe1083Leu)
|
rs1354409050
|
|
|
NM_001458.5(FLNC):c.3256G>A (p.Asp1086Asn)
|
rs369398096
|
|
|
NM_001458.5(FLNC):c.3257_3258delinsTA (p.Asp1086Val)
|
rs2128936367
|
|
|
NM_001458.5(FLNC):c.325C>A (p.Arg109Ser)
|
rs2128932240
|
|
|
NM_001458.5(FLNC):c.3264G>A (p.Lys1088=)
|
rs1808481662
|
|
|
NM_001458.5(FLNC):c.3265G>A (p.Gly1089Arg)
|
rs1554399171
|
|
|
NM_001458.5(FLNC):c.3275C>A (p.Thr1092Lys)
|
rs1405189650
|
|
|
NM_001458.5(FLNC):c.3278G>A (p.Gly1093Asp)
|
rs1374868566
|
|
|
NM_001458.5(FLNC):c.328G>A (p.Glu110Lys)
|
|
|
|
NM_001458.5(FLNC):c.3308G>A (p.Cys1103Tyr)
|
rs1238364459
|
|
|
NM_001458.5(FLNC):c.3322G>A (p.Glu1108Lys)
|
rs781352216
|
|
|
NM_001458.5(FLNC):c.332A>G (p.His111Arg)
|
|
|
|
NM_001458.5(FLNC):c.3343G>T (p.Gly1115Cys)
|
|
|
|
NM_001458.5(FLNC):c.3344G>A (p.Gly1115Asp)
|
rs2128936401
|
|
|
NM_001458.5(FLNC):c.3349T>C (p.Cys1117Arg)
|
|
|
|
NM_001458.5(FLNC):c.3349T>G (p.Cys1117Gly)
|
|
|
|
NM_001458.5(FLNC):c.3350G>T (p.Cys1117Phe)
|
|
|
|
NM_001458.5(FLNC):c.3358A>G (p.Ser1120Gly)
|
rs749637616
|
|
|
NM_001458.5(FLNC):c.3371C>A (p.Thr1124Lys)
|
rs375013141
|
|
|
NM_001458.5(FLNC):c.3371C>T (p.Thr1124Met)
|
rs375013141
|
|
|
NM_001458.5(FLNC):c.3377C>G (p.Pro1126Arg)
|
rs1808488088
|
|
|
NM_001458.5(FLNC):c.338A>G (p.Lys113Arg)
|
|
|
|
NM_001458.5(FLNC):c.3391A>G (p.Ile1131Val)
|
rs773110786
|
|
|
NM_001458.5(FLNC):c.3395A>G (p.Asn1132Ser)
|
rs2128936421
|
|
|
NM_001458.5(FLNC):c.3405T>G (p.Phe1135Leu)
|
|
|
|
NM_001458.5(FLNC):c.3415C>T (p.His1139Tyr)
|
rs1562996847
|
|
|
NM_001458.5(FLNC):c.3418A>G (p.Ile1140Val)
|
rs2128936425
|
|
|
NM_001458.5(FLNC):c.341T>C (p.Leu114Pro)
|
rs1807864684
|
|
|
NM_001458.5(FLNC):c.3430C>T (p.Pro1144Ser)
|
rs1585160095
|
|
|
NM_001458.5(FLNC):c.3431C>T (p.Pro1144Leu)
|
rs200723434
|
|
|
NM_001458.5(FLNC):c.3431_3432delinsGT (p.Pro1144Arg)
|
|
|
|
NM_001458.5(FLNC):c.3443C>G (p.Thr1148Ser)
|
|
|
|
NM_001458.5(FLNC):c.3443C>T (p.Thr1148Ile)
|
rs2128936430
|
|
|
NM_001458.5(FLNC):c.3448C>T (p.Arg1150Trp)
|
rs779184516
|
|
|
NM_001458.5(FLNC):c.3451C>T (p.Pro1151Ser)
|
|
|
|
NM_001458.5(FLNC):c.3454G>T (p.Val1152Leu)
|
rs1396046243
|
|
|
NM_001458.5(FLNC):c.3463C>G (p.Pro1155Ala)
|
rs745361779
|
|
|
NM_001458.5(FLNC):c.3465G>C (p.Pro1155=)
|
|
|
|
NM_001458.5(FLNC):c.3465G>T (p.Pro1155=)
|
|
|
|
NM_001458.5(FLNC):c.3475C>G (p.Arg1159Gly)
|
rs760500171
|
|
|
NM_001458.5(FLNC):c.3482_3483delinsTC (p.Ser1161Ile)
|
|
|
|
NM_001458.5(FLNC):c.3488C>A (p.Pro1163Gln)
|
rs377489161
|
|
|
NM_001458.5(FLNC):c.3502G>T (p.Gly1168Cys)
|
rs199814952
|
|
|
NM_001458.5(FLNC):c.3507G>C (p.Lys1169Asn)
|
|
|
|
NM_001458.5(FLNC):c.3511G>T (p.Gly1171Cys)
|
rs769490872
|
|
|
NM_001458.5(FLNC):c.3512G>A (p.Gly1171Asp)
|
rs1298622480
|
|
|
NM_001458.5(FLNC):c.3512G>T (p.Gly1171Val)
|
|
|
|
NM_001458.5(FLNC):c.3516G>T (p.Glu1172Asp)
|
|
|
|
NM_001458.5(FLNC):c.3518C>T (p.Ala1173Val)
|
rs1229255608
|
|
|
NM_001458.5(FLNC):c.352G>A (p.Asp118Asn)
|
|
|
|
NM_001458.5(FLNC):c.3538T>C (p.Cys1180Arg)
|
|
|
|
NM_001458.5(FLNC):c.3539G>C (p.Cys1180Ser)
|
|
|
|
NM_001458.5(FLNC):c.3539G>T (p.Cys1180Phe)
|
rs1319931619
|
|
|
NM_001458.5(FLNC):c.3541T>C (p.Ser1181Pro)
|
rs2128936467
|
|
|
NM_001458.5(FLNC):c.3568A>G (p.Ile1190Val)
|
rs1259241248
|
|
|
NM_001458.5(FLNC):c.356G>T (p.Ser119Ile)
|
|
|
|
NM_001458.5(FLNC):c.3572A>G (p.Glu1191Gly)
|
rs772055432
|
|
|
NM_001458.5(FLNC):c.3587C>T (p.Ala1196Val)
|
|
|
|
NM_001458.5(FLNC):c.3599C>T (p.Ala1200Val)
|
|
|
|
NM_001458.5(FLNC):c.3601G>A (p.Glu1201Lys)
|
rs751963297
|
|
|
NM_001458.5(FLNC):c.3601G>C (p.Glu1201Gln)
|
rs751963297
|
|
|
NM_001458.5(FLNC):c.3618C>A (p.Asn1206Lys)
|
rs1039623010
|
|
|
NM_001458.5(FLNC):c.3621C>G (p.Asn1207Lys)
|
rs117864464
|
|
|
NM_001458.5(FLNC):c.3629G>A (p.Gly1210Asp)
|
|
|
|
NM_001458.5(FLNC):c.3643A>C (p.Thr1215Pro)
|
rs2128936501
|
|
|
NM_001458.5(FLNC):c.3656C>T (p.Ala1219Val)
|
rs775551445
|
|
|
NM_001458.5(FLNC):c.365T>C (p.Ile122Thr)
|
rs2128933606
|
|
|
NM_001458.5(FLNC):c.3671A>G (p.Tyr1224Cys)
|
|
|
|
NM_001458.5(FLNC):c.3676A>G (p.Ile1226Val)
|
rs1808506817
|
|
|
NM_001458.5(FLNC):c.3689A>C (p.Tyr1230Ser)
|
|
|
|
NM_001458.5(FLNC):c.3689A>G (p.Tyr1230Cys)
|
rs863225116
|
|
|
NM_001458.5(FLNC):c.3692G>A (p.Gly1231Asp)
|
rs1808507457
|
|
|
NM_001458.5(FLNC):c.3693_3695dup (p.Gly1232dup)
|
rs1808507351
|
|
|
NM_001458.5(FLNC):c.3694G>A (p.Gly1232Arg)
|
rs754533053
|
|
|
NM_001458.5(FLNC):c.3700C>T (p.Pro1234Ser)
|
|
|
|
NM_001458.5(FLNC):c.3703G>A (p.Val1235Met)
|
rs1208885010
|
|
|
NM_001458.5(FLNC):c.3703G>T (p.Val1235Leu)
|
|
|
|
NM_001458.5(FLNC):c.370G>T (p.Asp124Tyr)
|
rs1808053038
|
|
|
NM_001458.5(FLNC):c.3713T>G (p.Phe1238Cys)
|
rs777798089
|
|
|
NM_001458.5(FLNC):c.371A>C (p.Asp124Ala)
|
|
|
|
NM_001458.5(FLNC):c.3725T>C (p.Val1242Ala)
|
|
|
|
NM_001458.5(FLNC):c.3730G>T (p.Val1244Leu)
|
|
|
|
NM_001458.5(FLNC):c.3761A>C (p.Lys1254Thr)
|
|
|
|
NM_001458.5(FLNC):c.3781G>C (p.Glu1261Gln)
|
rs747033771
|
|
|
NM_001458.5(FLNC):c.3790+5G>C
|
rs199917473
|
|
|
NM_001458.5(FLNC):c.3790G>T (p.Gly1264Cys)
|
rs201335143
|
|
|
NM_001458.5(FLNC):c.3799C>G (p.Arg1267Gly)
|
rs371483562
|
|
|
NM_001458.5(FLNC):c.37G>A (p.Gly13Ser)
|
rs760318519
|
|
|
NM_001458.5(FLNC):c.37G>C (p.Gly13Arg)
|
rs760318519
|
|
|
NM_001458.5(FLNC):c.3803A>G (p.Glu1268Gly)
|
rs1585161164
|
|
|
NM_001458.5(FLNC):c.3805G>T (p.Val1269Leu)
|
rs1808547668
|
|
|
NM_001458.5(FLNC):c.3815A>G (p.Glu1272Gly)
|
|
|
|
NM_001458.5(FLNC):c.3829G>A (p.Ala1277Thr)
|
rs1808548777
|
|
|
NM_001458.5(FLNC):c.3829G>T (p.Ala1277Ser)
|
rs1808548777
|
|
|
NM_001458.5(FLNC):c.3835T>C (p.Ser1279Pro)
|
rs1562997744
|
|
|
NM_001458.5(FLNC):c.3836C>T (p.Ser1279Phe)
|
|
|
|
NM_001458.5(FLNC):c.3842C>T (p.Thr1281Ile)
|
rs776862347
|
|
|
NM_001458.5(FLNC):c.385C>G (p.Leu129Val)
|
|
|
|
NM_001458.5(FLNC):c.3862G>A (p.Val1288Met)
|
rs750415476
|
|
|
NM_001458.5(FLNC):c.3862G>C (p.Val1288Leu)
|
rs750415476
|
|
|
NM_001458.5(FLNC):c.3881A>G (p.Asn1294Ser)
|
rs944103680
|
|
|
NM_001458.5(FLNC):c.3881A>T (p.Asn1294Ile)
|
rs944103680
|
|
|
NM_001458.5(FLNC):c.3882C>G (p.Asn1294Lys)
|
rs1808552408
|
|
|
NM_001458.5(FLNC):c.3883C>G (p.Pro1295Ala)
|
|
|
|
NM_001458.5(FLNC):c.3887C>G (p.Ser1296Trp)
|
rs747587140
|
|
|
NM_001458.5(FLNC):c.389T>A (p.Ile130Asn)
|
|
|
|
NM_001458.5(FLNC):c.3905C>T (p.Thr1302Ile)
|
rs746249435
|
|
|
NM_001458.5(FLNC):c.3905_3919dup (p.Thr1302_Asp1306dup)
|
rs756167665
|
|
|
NM_001458.5(FLNC):c.3908A>T (p.Tyr1303Phe)
|
rs1808553804
|
|
|
NM_001458.5(FLNC):c.3919A>G (p.Asn1307Asp)
|
rs1808554442
|
|
|
NM_001458.5(FLNC):c.3920A>G (p.Asn1307Ser)
|
|
|
|
NM_001458.5(FLNC):c.3938G>C (p.Arg1313Pro)
|
rs199804244
|
|
|
NM_001458.5(FLNC):c.3947A>G (p.Tyr1316Cys)
|
rs2128936781
|
|
|
NM_001458.5(FLNC):c.3950C>G (p.Thr1317Ser)
|
|
|
|
NM_001458.5(FLNC):c.3952G>T (p.Ala1318Ser)
|
rs777939926
|
|
|
NM_001458.5(FLNC):c.3953C>T (p.Ala1318Val)
|
|
|
|
NM_001458.5(FLNC):c.3964+5G>A
|
rs2128936793
|
|
|
NM_001458.5(FLNC):c.3964G>C (p.Gly1322Arg)
|
|
|
|
NM_001458.5(FLNC):c.3967G>A (p.Val1323Met)
|
rs771676134
|
|
|
NM_001458.5(FLNC):c.3967G>T (p.Val1323Leu)
|
|
|
|
NM_001458.5(FLNC):c.3968T>G (p.Val1323Gly)
|
rs2128936843
|
|
|
NM_001458.5(FLNC):c.3982G>A (p.Val1328Ile)
|
rs1585161584
|
|
|
NM_001458.5(FLNC):c.398T>C (p.Leu133Pro)
|
rs1808053502
|
|
|
NM_001458.5(FLNC):c.3996G>T (p.Glu1332Asp)
|
|
|
|
NM_001458.5(FLNC):c.4009A>C (p.Lys1337Gln)
|
rs1554399580
|
|
|
NM_001458.5(FLNC):c.4016C>T (p.Pro1339Leu)
|
rs1808566825
|
|
|
NM_001458.5(FLNC):c.4018T>G (p.Phe1340Val)
|
rs775383465
|
|
|
NM_001458.5(FLNC):c.402C>G (p.Ile134Met)
|
|
|
|
NM_001458.5(FLNC):c.4052C>T (p.Thr1351Ile)
|
rs1585161671
|
|
|
NM_001458.5(FLNC):c.4055G>T (p.Arg1352Leu)
|
rs746731567
|
|
|
NM_001458.5(FLNC):c.4055_4056delinsAT (p.Arg1352His)
|
|
|
|
NM_001458.5(FLNC):c.405G>T (p.Trp135Cys)
|
rs2128933620
|
|
|
NM_001458.5(FLNC):c.4069G>T (p.Gly1357Trp)
|
|
|
|
NM_001458.5(FLNC):c.406A>G (p.Thr136Ala)
|
|
|
|
NM_001458.5(FLNC):c.4087G>A (p.Gly1363Ser)
|
|
|
|
NM_001458.5(FLNC):c.4092G>T (p.Leu1364Phe)
|
rs768635501
|
|
|
NM_001458.5(FLNC):c.4102G>C (p.Ala1368Pro)
|
|
|
|
NM_001458.5(FLNC):c.4102G>T (p.Ala1368Ser)
|
|
|
|
NM_001458.5(FLNC):c.4103C>T (p.Ala1368Val)
|
rs896305338
|
|
|
NM_001458.5(FLNC):c.4105A>G (p.Asn1369Asp)
|
|
|
|
NM_001458.5(FLNC):c.4106A>G (p.Asn1369Ser)
|
rs1554399615
|
|
|
NM_001458.5(FLNC):c.4108C>G (p.Arg1370Gly)
|
rs1342121466
|
|
|
NM_001458.5(FLNC):c.4111T>C (p.Phe1371Leu)
|
|
|
|
NM_001458.5(FLNC):c.4120G>A (p.Glu1374Lys)
|
|
|
|
NM_001458.5(FLNC):c.4127+5C>A
|
|
|
|
NM_001458.5(FLNC):c.4127+5C>T
|
rs2128936919
|
|
|
NM_001458.5(FLNC):c.4128-11T>G
|
|
|
|
NM_001458.5(FLNC):c.4129G>A (p.Gly1377Arg)
|
rs768725407
|
|
|
NM_001458.5(FLNC):c.4129G>C (p.Gly1377Arg)
|
|
|
|
NM_001458.5(FLNC):c.4130G>C (p.Gly1377Ala)
|
|
|
|
NM_001458.5(FLNC):c.4132G>A (p.Ala1378Thr)
|
|
|
|
NM_001458.5(FLNC):c.4132G>T (p.Ala1378Ser)
|
|
|
|
NM_001458.5(FLNC):c.4141G>T (p.Gly1381Trp)
|
rs766513255
|
|
|
NM_001458.5(FLNC):c.4142G>A (p.Gly1381Glu)
|
rs2128937018
|
|
|
NM_001458.5(FLNC):c.4145G>A (p.Gly1382Asp)
|
rs1808586180
|
|
|
NM_001458.5(FLNC):c.4159A>C (p.Ile1387Leu)
|
|
|
|
NM_001458.5(FLNC):c.4159A>G (p.Ile1387Val)
|
rs1032003580
|
|
|
NM_001458.5(FLNC):c.4162G>A (p.Glu1388Lys)
|
|
|
|
NM_001458.5(FLNC):c.4171_4227del (p.Ser1391_Tyr1409del)
|
|
|
|
NM_001458.5(FLNC):c.4181A>C (p.Lys1394Thr)
|
|
|
|
NM_001458.5(FLNC):c.4184T>A (p.Met1395Lys)
|
rs1372801269
|
|
|
NM_001458.5(FLNC):c.4185G>A (p.Met1395Ile)
|
rs2128937035
|
|
|
NM_001458.5(FLNC):c.4197CAA[1] (p.Asn1400del)
|
rs1167620763
|
|
|
NM_001458.5(FLNC):c.4202A>C (p.Lys1401Thr)
|
rs1808588600
|
|
|
NM_001458.5(FLNC):c.4202A>G (p.Lys1401Arg)
|
rs1808588600
|
|
|
NM_001458.5(FLNC):c.421T>C (p.Tyr141His)
|
|
|
|
NM_001458.5(FLNC):c.4224G>T (p.Glu1408Asp)
|
|
|
|
NM_001458.5(FLNC):c.4255G>A (p.Val1419Ile)
|
rs1432229476
|
|
|
NM_001458.5(FLNC):c.4256T>C (p.Val1419Ala)
|
rs2128937054
|
|
|
NM_001458.5(FLNC):c.4257C>A (p.Val1419=)
|
|
|
|
NM_001458.5(FLNC):c.4276C>T (p.Arg1426Trp)
|
|
|
|
NM_001458.5(FLNC):c.4277G>C (p.Arg1426Pro)
|
rs764452839
|
|
|
NM_001458.5(FLNC):c.4279C>T (p.Pro1427Ser)
|
|
|
|
NM_001458.5(FLNC):c.4280C>T (p.Pro1427Leu)
|
rs1192906461
|
|
|
NM_001458.5(FLNC):c.4287A>C (p.Pro1429=)
|
rs1808591761
|
|
|
NM_001458.5(FLNC):c.4288G>A (p.Gly1430Arg)
|
|
|
|
NM_001458.5(FLNC):c.4289-3C>A
|
|
|
|
NM_001458.5(FLNC):c.4292G>T (p.Ser1431Ile)
|
|
|
|
NM_001458.5(FLNC):c.4293C>A (p.Ser1431Arg)
|
|
|
|
NM_001458.5(FLNC):c.4298T>A (p.Phe1433Tyr)
|
rs2128937234
|
|
|
NM_001458.5(FLNC):c.4299C>A (p.Phe1433Leu)
|
|
|
|
NM_001458.5(FLNC):c.4301G>C (p.Arg1434Pro)
|
|
|
|
NM_001458.5(FLNC):c.4309G>T (p.Val1437Leu)
|
rs1445187487
|
|
|
NM_001458.5(FLNC):c.4315G>A (p.Asp1439Asn)
|
rs1562998835
|
|
|
NM_001458.5(FLNC):c.4318G>A (p.Val1440Met)
|
|
|
|
NM_001458.5(FLNC):c.431C>T (p.Ser144Phe)
|
rs1225645939
|
|
|
NM_001458.5(FLNC):c.4321G>A (p.Val1441Met)
|
|
|
|
NM_001458.5(FLNC):c.4324G>A (p.Asp1442Asn)
|
|
|
|
NM_001458.5(FLNC):c.4326C>A (p.Asp1442Glu)
|
rs1458536220
|
|
|
NM_001458.5(FLNC):c.4342T>C (p.Cys1448Arg)
|
rs976487545
|
|
|
NM_001458.5(FLNC):c.4352C>G (p.Pro1451Arg)
|
|
|
|
NM_001458.5(FLNC):c.4378C>G (p.Arg1460Gly)
|
|
|
|
NM_001458.5(FLNC):c.4387C>G (p.Gln1463Glu)
|
rs1808623920
|
|
|
NM_001458.5(FLNC):c.4399G>A (p.Val1467Met)
|
|
|
|
NM_001458.5(FLNC):c.4415C>T (p.Ala1472Val)
|
|
|
|
NM_001458.5(FLNC):c.4418G>A (p.Gly1473Asp)
|
rs1174959724
|
|
|
NM_001458.5(FLNC):c.4423G>T (p.Ala1475Ser)
|
rs982026083
|
|
|
NM_001458.5(FLNC):c.4426C>A (p.Pro1476Thr)
|
|
|
|
NM_001458.5(FLNC):c.4435G>C (p.Val1479Leu)
|
|
|
|
NM_001458.5(FLNC):c.4445T>C (p.Leu1482Pro)
|
|
|
|
NM_001458.5(FLNC):c.446A>T (p.Glu149Val)
|
rs1808055544
|
|
|
NM_001458.5(FLNC):c.4475A>C (p.Glu1492Ala)
|
|
|
|
NM_001458.5(FLNC):c.4481G>A (p.Arg1494Gln)
|
rs1241325618
|
|
|
NM_001458.5(FLNC):c.4484A>G (p.Asp1495Gly)
|
|
|
|
NM_001458.5(FLNC):c.4487A>G (p.Asn1496Ser)
|
|
|
|
NM_001458.5(FLNC):c.4492G>T (p.Asp1498Tyr)
|
|
|
|
NM_001458.5(FLNC):c.4493A>G (p.Asp1498Gly)
|
|
|
|
NM_001458.5(FLNC):c.4496G>A (p.Gly1499Asp)
|
|
|
|
NM_001458.5(FLNC):c.4497C>T (p.Gly1499=)
|
rs1808633213
|
|
|
NM_001458.5(FLNC):c.4507G>A (p.Val1503Ile)
|
|
|
|
NM_001458.5(FLNC):c.4516A>G (p.Thr1506Ala)
|
rs771974318
|
|
|
NM_001458.5(FLNC):c.4517C>G (p.Thr1506Ser)
|
rs1808634430
|
|
|
NM_001458.5(FLNC):c.4519C>A (p.Pro1507Thr)
|
|
|
|
NM_001458.5(FLNC):c.4519C>G (p.Pro1507Ala)
|
|
|
|
NM_001458.5(FLNC):c.451G>A (p.Glu151Lys)
|
rs1354261792
|
|
|
NM_001458.5(FLNC):c.4531G>A (p.Gly1511Arg)
|
rs1445118718
|
|
|
NM_001458.5(FLNC):c.4537T>C (p.Tyr1513His)
|
|
|
|
NM_001458.5(FLNC):c.4540A>G (p.Thr1514Ala)
|
|
|
|
NM_001458.5(FLNC):c.4550T>C (p.Val1517Ala)
|
|
|
|
NM_001458.5(FLNC):c.4550T>G (p.Val1517Gly)
|
|
|
|
NM_001458.5(FLNC):c.4562A>C (p.Asp1521Ala)
|
|
|
|
NM_001458.5(FLNC):c.4564C>A (p.Gln1522Lys)
|
|
|
|
NM_001458.5(FLNC):c.4566G>T (p.Gln1522His)
|
rs559667295
|
|
|
NM_001458.5(FLNC):c.4570G>A (p.Val1524Met)
|
rs1358403336
|
|
|
NM_001458.5(FLNC):c.4576C>G (p.Arg1526Gly)
|
rs746275035
|
|
|
NM_001458.5(FLNC):c.4580+4A>G
|
|
|
|
NM_001458.5(FLNC):c.4580+5G>A
|
|
|
|
NM_001458.5(FLNC):c.4581C>A (p.Ser1527Arg)
|
rs2128937518
|
|
|
NM_001458.5(FLNC):c.4593C>G (p.Ile1531Met)
|
rs371988433
|
|
|
NM_001458.5(FLNC):c.4598T>A (p.Val1533Asp)
|
|
|
|
NM_001458.5(FLNC):c.4604C>A (p.Pro1535Gln)
|
|
|
|
NM_001458.5(FLNC):c.4607C>T (p.Ala1536Val)
|
rs1808665032
|
|
|
NM_001458.5(FLNC):c.460G>A (p.Glu154Lys)
|
|
|
|
NM_001458.5(FLNC):c.4616C>T (p.Ala1539Val)
|
rs770746660
|
|
|
NM_001458.5(FLNC):c.4621A>G (p.Lys1541Glu)
|
|
|
|
NM_001458.5(FLNC):c.4631C>A (p.Ala1544Asp)
|
|
|
|
NM_001458.5(FLNC):c.4634G>T (p.Ser1545Ile)
|
rs2128937535
|
|
|
NM_001458.5(FLNC):c.4636G>T (p.Gly1546Cys)
|
rs774263134
|
|
|
NM_001458.5(FLNC):c.4639C>T (p.Pro1547Ser)
|
rs2128937538
|
|
|
NM_001458.5(FLNC):c.4645C>T (p.Leu1549Phe)
|
rs2128937539
|
|
|
NM_001458.5(FLNC):c.4649A>G (p.Asn1550Ser)
|
|
|
|
NM_001458.5(FLNC):c.4655C>T (p.Ser1552Phe)
|
|
|
|
NM_001458.5(FLNC):c.4675C>A (p.Pro1559Thr)
|
|
|
|
NM_001458.5(FLNC):c.4678G>A (p.Val1560Met)
|
rs1351915127
|
|
|
NM_001458.5(FLNC):c.4687A>C (p.Thr1563Pro)
|
rs1490741362
|
|
|
NM_001458.5(FLNC):c.4697C>G (p.Ala1566Gly)
|
rs1808670044
|
|
|
NM_001458.5(FLNC):c.4698_4699delinsTT (p.Arg1567Trp)
|
rs2128937563
|
|
|
NM_001458.5(FLNC):c.469C>G (p.Arg157Gly)
|
rs759739899
|
|
|
NM_001458.5(FLNC):c.46G>T (p.Asp16Tyr)
|
rs1807849615
|
|
|
NM_001458.5(FLNC):c.4700G>T (p.Arg1567Leu)
|
rs2291569
|
|
|
NM_001458.5(FLNC):c.4708G>T (p.Gly1570Cys)
|
rs1562999563
|
|
|
NM_001458.5(FLNC):c.472A>C (p.Lys158Gln)
|
|
|
|
NM_001458.5(FLNC):c.4732A>G (p.Ile1578Val)
|
|
|
|
NM_001458.5(FLNC):c.4737+5G>A
|
rs1808673722
|
|
|
NM_001458.5(FLNC):c.4740C>A (p.Asp1580Glu)
|
|
|
|
NM_001458.5(FLNC):c.4742C>A (p.Pro1581His)
|
rs1365087680
|
|
|
NM_001458.5(FLNC):c.4747G>A (p.Gly1583Ser)
|
rs2128937618
|
|
|
NM_001458.5(FLNC):c.4748G>C (p.Gly1583Ala)
|
|
|
|
NM_001458.5(FLNC):c.4768A>G (p.Ile1590Val)
|
|
|
|
NM_001458.5(FLNC):c.4769T>G (p.Ile1590Ser)
|
rs1808679455
|
|
|
NM_001458.5(FLNC):c.4775A>G (p.Asp1592Gly)
|
rs1808679952
|
|
|
NM_001458.5(FLNC):c.4775A>T (p.Asp1592Val)
|
|
|
|
NM_001458.5(FLNC):c.4783G>A (p.Asp1595Asn)
|
rs780133859
|
|
|
NM_001458.5(FLNC):c.4796C>T (p.Thr1599Ile)
|
rs2128937641
|
|
|
NM_001458.5(FLNC):c.4808T>C (p.Leu1603Pro)
|
|
|
|
NM_001458.5(FLNC):c.4811C>T (p.Pro1604Leu)
|
rs778021239
|
|
|
NM_001458.5(FLNC):c.4817T>A (p.Met1606Lys)
|
rs1808683017
|
|
|
NM_001458.5(FLNC):c.4825C>G (p.Arg1609Gly)
|
rs374756527
|
|
|
NM_001458.5(FLNC):c.4826G>A (p.Arg1609Gln)
|
rs1168628508
|
|
|
NM_001458.5(FLNC):c.4832C>T (p.Thr1611Ile)
|
rs1025308371
|
|
|
NM_001458.5(FLNC):c.4858G>A (p.Glu1620Lys)
|
rs1808685152
|
|
|
NM_001458.5(FLNC):c.4868A>G (p.Tyr1623Cys)
|
rs1585164018
|
|
|
NM_001458.5(FLNC):c.4873C>T (p.Pro1625Ser)
|
rs2128937664
|
|
|
NM_001458.5(FLNC):c.4874C>T (p.Pro1625Leu)
|
rs1585164029
|
|
|
NM_001458.5(FLNC):c.4880G>T (p.Arg1627Leu)
|
rs751592993
|
|
|
NM_001458.5(FLNC):c.4887T>A (p.His1629Gln)
|
rs1585164043
|
|
|
NM_001458.5(FLNC):c.4888G>T (p.Ala1630Ser)
|
rs1479430297
|
|
|
NM_001458.5(FLNC):c.4897A>G (p.Thr1633Ala)
|
|
|
|
NM_001458.5(FLNC):c.4914G>T (p.Lys1638Asn)
|
|
|
|
NM_001458.5(FLNC):c.491G>A (p.Arg164Gln)
|
|
|
|
NM_001458.5(FLNC):c.4925C>T (p.Thr1642Ile)
|
rs756074974
|
|
|
NM_001458.5(FLNC):c.4926A>G (p.Thr1642=)
|
rs1808689032
|
|
|
NM_001458.5(FLNC):c.4927+3G>A
|
rs2128937684
|
|
|
NM_001458.5(FLNC):c.4927+5G>A
|
rs1808689249
|
|
|
NM_001458.5(FLNC):c.4931C>G (p.Ser1644Cys)
|
rs1808699932
|
|
|
NM_001458.5(FLNC):c.4934T>C (p.Ile1645Thr)
|
|
|
|
NM_001458.5(FLNC):c.4937G>A (p.Gly1646Glu)
|
|
|
|
NM_001458.5(FLNC):c.4939G>A (p.Gly1647Ser)
|
rs748563858
|
|
|
NM_001458.5(FLNC):c.4940G>T (p.Gly1647Val)
|
|
|
|
NM_001458.5(FLNC):c.4969C>G (p.Arg1657Gly)
|
rs1563000044
|
|
|
NM_001458.5(FLNC):c.4970G>T (p.Arg1657Leu)
|
|
|
|
NM_001458.5(FLNC):c.4981G>A (p.Gly1661Arg)
|
rs2128937796
|
|
|
NM_001458.5(FLNC):c.4988A>G (p.Glu1663Gly)
|
|
|
|
NM_001458.5(FLNC):c.49G>A (p.Glu17Lys)
|
|
|
|
NM_001458.5(FLNC):c.4A>G (p.Met2Val)
|
|
|
|
NM_001458.5(FLNC):c.5000C>G (p.Thr1667Arg)
|
|
|
|
NM_001458.5(FLNC):c.5011A>G (p.Lys1671Glu)
|
rs1563000088
|
|
|
NM_001458.5(FLNC):c.5013G>T (p.Lys1671Asn)
|
|
|
|
NM_001458.5(FLNC):c.5021_5023del (p.Gly1674del)
|
|
|
|
NM_001458.5(FLNC):c.5026G>A (p.Gly1676Arg)
|
rs1585164542
|
|
|
NM_001458.5(FLNC):c.5027G>A (p.Gly1676Glu)
|
|
|
|
NM_001458.5(FLNC):c.5029A>C (p.Lys1677Gln)
|
rs1554400214
|
|
|
NM_001458.5(FLNC):c.5036C>A (p.Thr1679Lys)
|
rs1364205864
|
|
|
NM_001458.5(FLNC):c.5039G>C (p.Cys1680Ser)
|
rs552930634
|
|
|
NM_001458.5(FLNC):c.5041A>G (p.Thr1681Ala)
|
|
|
|
NM_001458.5(FLNC):c.5044G>C (p.Val1682Leu)
|
|
|
|
NM_001458.5(FLNC):c.5056G>T (p.Asp1686Tyr)
|
|
|
|
NM_001458.5(FLNC):c.5059G>A (p.Gly1687Arg)
|
rs1808713041
|
|
|
NM_001458.5(FLNC):c.5064_5084dup (p.Leu1690_Glu1696dup)
|
rs1808713133
|
|
|
NM_001458.5(FLNC):c.5083G>A (p.Val1695Ile)
|
|
|
|
NM_001458.5(FLNC):c.5084T>C (p.Val1695Ala)
|
|
|
|
NM_001458.5(FLNC):c.5088G>C (p.Glu1696Asp)
|
rs1563000172
|
|
|
NM_001458.5(FLNC):c.5110A>G (p.Ile1704Val)
|
rs2128937827
|
|
|
NM_001458.5(FLNC):c.5114A>T (p.Tyr1705Phe)
|
|
|
|
NM_001458.5(FLNC):c.5117A>G (p.Tyr1706Cys)
|
|
|
|
NM_001458.5(FLNC):c.5123C>T (p.Ala1708Val)
|
rs1011817473
|
|
|
NM_001458.5(FLNC):c.5135G>A (p.Gly1712Asp)
|
|
|
|
NM_001458.5(FLNC):c.5135G>C (p.Gly1712Ala)
|
rs2128937832
|
|
|
NM_001458.5(FLNC):c.5149A>T (p.Thr1717Ser)
|
|
|
|
NM_001458.5(FLNC):c.5160C>A (p.Phe1720Leu)
|
|
|
|
NM_001458.5(FLNC):c.5161G>A (p.Gly1721Arg)
|
rs759786433
|
|
|
NM_001458.5(FLNC):c.5162G>A (p.Gly1721Glu)
|
rs1181189567
|
|
|
NM_001458.5(FLNC):c.5163G>A (p.Gly1721=)
|
|
|
|
NM_001458.5(FLNC):c.5164G>A (p.Gly1722Ser)
|
rs765591354
|
|
|
NM_001458.5(FLNC):c.5165G>A (p.Gly1722Asp)
|
|
|
|
NM_001458.5(FLNC):c.5170C>T (p.His1724Tyr)
|
rs2128937841
|
|
|
NM_001458.5(FLNC):c.5179A>G (p.Asn1727Asp)
|
rs2128937845
|
|
|
NM_001458.5(FLNC):c.5180A>G (p.Asn1727Ser)
|
rs1808718121
|
|
|
NM_001458.5(FLNC):c.5182A>G (p.Ser1728Gly)
|
rs1554400248
|
|
|
NM_001458.5(FLNC):c.5183G>A (p.Ser1728Asn)
|
|
|
|
NM_001458.5(FLNC):c.5194G>C (p.Val1732Leu)
|
|
|
|
NM_001458.5(FLNC):c.5199+6T>G
|
|
|
|
NM_001458.5(FLNC):c.519_525delinsT (p.Pro174_Gln175del)
|
rs1808059318
|
|
|
NM_001458.5(FLNC):c.5200-18C>G
|
|
|
|
NM_001458.5(FLNC):c.5200G>A (p.Ala1734Thr)
|
rs1359496906
|
|
|
NM_001458.5(FLNC):c.5201C>T (p.Ala1734Val)
|
rs751149867
|
|
|
NM_001458.5(FLNC):c.5205T>G (p.Cys1735Trp)
|
|
|
|
NM_001458.5(FLNC):c.5208C>A (p.Asp1736Glu)
|
rs1291689149
|
|
|
NM_001458.5(FLNC):c.520C>T (p.Pro174Ser)
|
rs1350019040
|
|
|
NM_001458.5(FLNC):c.5216C>A (p.Pro1739Gln)
|
rs745650222
|
|
|
NM_001458.5(FLNC):c.5231C>T (p.Pro1744Leu)
|
|
|
|
NM_001458.5(FLNC):c.5233T>A (p.Ser1745Thr)
|
|
|
|
NM_001458.5(FLNC):c.5238A>C (p.Glu1746Asp)
|
rs1563000552
|
|
|
NM_001458.5(FLNC):c.5239G>A (p.Val1747Met)
|
rs764373507
|
|
|
NM_001458.5(FLNC):c.5246A>C (p.Gln1749Pro)
|
|
|
|
NM_001458.5(FLNC):c.5248C>A (p.Leu1750Met)
|
|
|
|
NM_001458.5(FLNC):c.525G>C (p.Gln175His)
|
|
|
|
NM_001458.5(FLNC):c.5261A>G (p.Tyr1754Cys)
|
rs1330454582
|
|
|
NM_001458.5(FLNC):c.5264C>T (p.Ala1755Val)
|
rs1286156977
|
|
|
NM_001458.5(FLNC):c.5265TCC[1] (p.Pro1757del)
|
rs1808740121
|
|
|
NM_001458.5(FLNC):c.5272C>G (p.Arg1758Gly)
|
rs369187211
|
|
|
NM_001458.5(FLNC):c.5273G>T (p.Arg1758Leu)
|
|
|
|
NM_001458.5(FLNC):c.5279G>A (p.Gly1760Asp)
|
rs1808741985
|
|
|
NM_001458.5(FLNC):c.5285G>C (p.Arg1762Pro)
|
|
|
|
NM_001458.5(FLNC):c.5299-17C>G
|
|
|
|
NM_001458.5(FLNC):c.5306A>G (p.Glu1769Gly)
|
|
|
|
NM_001458.5(FLNC):c.5306_5314del (p.Glu1769_Pro1771del)
|
rs2128938073
|
|
|
NM_001458.5(FLNC):c.5307G>C (p.Glu1769Asp)
|
rs1808756761
|
|
|
NM_001458.5(FLNC):c.5311C>A (p.Pro1771Thr)
|
|
|
|
NM_001458.5(FLNC):c.5317G>A (p.Val1773Met)
|
|
|
|
NM_001458.5(FLNC):c.5321C>G (p.Pro1774Arg)
|
rs1273796039
|
|
|
NM_001458.5(FLNC):c.5323G>A (p.Val1775Met)
|
|
|
|
NM_001458.5(FLNC):c.5323G>T (p.Val1775Leu)
|
|
|
|
NM_001458.5(FLNC):c.532A>T (p.Ile178Phe)
|
|
|
|
NM_001458.5(FLNC):c.5339C>A (p.Ser1780Tyr)
|
|
|
|
NM_001458.5(FLNC):c.5343G>A (p.Met1781Ile)
|
rs1554400464
|
|
|
NM_001458.5(FLNC):c.5354T>C (p.Phe1785Ser)
|
rs1808758860
|
|
|
NM_001458.5(FLNC):c.5358C>G (p.Asn1786Lys)
|
rs1311819055
|
|
|
NM_001458.5(FLNC):c.535A>T (p.Thr179Ser)
|
|
|
|
NM_001458.5(FLNC):c.5362G>T (p.Val1788Phe)
|
rs1808759348
|
|
|
NM_001458.5(FLNC):c.5365A>G (p.Ile1789Val)
|
|
|
|
NM_001458.5(FLNC):c.5372T>A (p.Phe1791Tyr)
|
rs2128938095
|
|
|
NM_001458.5(FLNC):c.5398G>A (p.Gly1800Arg)
|
rs2128938108
|
|
|
NM_001458.5(FLNC):c.5412G>C (p.Met1804Ile)
|
|
|
|
NM_001458.5(FLNC):c.5413C>A (p.Pro1805Thr)
|
rs1808775264
|
|
|
NM_001458.5(FLNC):c.5414C>T (p.Pro1805Leu)
|
rs2128938211
|
|
|
NM_001458.5(FLNC):c.5430_5431inv (p.Arg1811Trp)
|
|
|
|
NM_001458.5(FLNC):c.5438A>G (p.Asn1813Ser)
|
|
|
|
NM_001458.5(FLNC):c.5444C>T (p.Thr1815Ile)
|
rs1361160043
|
|
|
NM_001458.5(FLNC):c.5448CAA[1] (p.Asn1817del)
|
rs1312829675
|
|
|
NM_001458.5(FLNC):c.5452A>C (p.Lys1818Gln)
|
|
|
|
NM_001458.5(FLNC):c.5455G>A (p.Asp1819Asn)
|
rs1808778177
|
|
|
NM_001458.5(FLNC):c.5455G>T (p.Asp1819Tyr)
|
rs1808778177
|
|
|
NM_001458.5(FLNC):c.5456A>T (p.Asp1819Val)
|
rs2128938237
|
|
|
NM_001458.5(FLNC):c.5459G>A (p.Gly1820Asp)
|
|
|
|
NM_001458.5(FLNC):c.5464A>G (p.Ile1822Val)
|
|
|
|
NM_001458.5(FLNC):c.5464A>T (p.Ile1822Phe)
|
|
|
|
NM_001458.5(FLNC):c.5470G>A (p.Val1824Met)
|
rs1808779198
|
|
|
NM_001458.5(FLNC):c.5483C>T (p.Pro1828Leu)
|
rs2128938246
|
|
|
NM_001458.5(FLNC):c.5486C>T (p.Thr1829Ile)
|
rs1585166066
|
|
|
NM_001458.5(FLNC):c.5489A>G (p.Glu1830Gly)
|
|
|
|
NM_001458.5(FLNC):c.5491A>G (p.Lys1831Glu)
|
rs374126692
|
|
|
NM_001458.5(FLNC):c.5495G>T (p.Gly1832Val)
|
rs1808780127
|
|
|
NM_001458.5(FLNC):c.5504A>C (p.Gln1835Pro)
|
|
|
|
NM_001458.5(FLNC):c.5505G>C (p.Gln1835His)
|
|
|
|
NM_001458.5(FLNC):c.5506A>C (p.Met1836Leu)
|
rs1808780678
|
|
|
NM_001458.5(FLNC):c.5518T>A (p.Tyr1840Asn)
|
|
|
|
NM_001458.5(FLNC):c.5528A>G (p.Asn1843Ser)
|
|
|
|
NM_001458.5(FLNC):c.5530C>T (p.His1844Tyr)
|
|
|
|
NM_001458.5(FLNC):c.5537C>T (p.Pro1846Leu)
|
rs1408298919
|
|
|
NM_001458.5(FLNC):c.5545C>A (p.Pro1849Thr)
|
rs1808798354
|
|
|
NM_001458.5(FLNC):c.5546C>A (p.Pro1849His)
|
|
|
|
NM_001458.5(FLNC):c.5558A>G (p.Tyr1853Cys)
|
|
|
|
NM_001458.5(FLNC):c.5560G>A (p.Val1854Met)
|
|
|
|
NM_001458.5(FLNC):c.5560G>C (p.Val1854Leu)
|
|
|
|
NM_001458.5(FLNC):c.5564A>G (p.Asp1855Gly)
|
|
|
|
NM_001458.5(FLNC):c.5564A>T (p.Asp1855Val)
|
|
|
|
NM_001458.5(FLNC):c.5576G>A (p.Ser1859Asn)
|
|
|
|
NM_001458.5(FLNC):c.5581C>T (p.His1861Tyr)
|
|
|
|
NM_001458.5(FLNC):c.5588G>A (p.Ser1863Asn)
|
rs1224825896
|
|
|
NM_001458.5(FLNC):c.5618T>A (p.Met1873Lys)
|
rs1808801511
|
|
|
NM_001458.5(FLNC):c.5624A>G (p.Asn1875Ser)
|
rs1808801761
|
|
|
NM_001458.5(FLNC):c.5651C>T (p.Thr1884Ile)
|
rs1064796546
|
|
|
NM_001458.5(FLNC):c.5666A>G (p.Glu1889Gly)
|
|
|
|
NM_001458.5(FLNC):c.5668+3G>A
|
rs1563001474
|
|
|
NM_001458.5(FLNC):c.5668+6G>A
|
rs773119692
|
|
|
NM_001458.5(FLNC):c.5668G>T (p.Gly1890Trp)
|
rs1808803000
|
|
|
NM_001458.5(FLNC):c.5671G>T (p.Gly1891Cys)
|
rs2128938427
|
|
|
NM_001458.5(FLNC):c.5672G>A (p.Gly1891Asp)
|
rs1808808728
|
|
|
NM_001458.5(FLNC):c.5672G>T (p.Gly1891Val)
|
|
|
|
NM_001458.5(FLNC):c.5677_5682del (p.Ser1893_Leu1894del)
|
rs1425063581
|
|
|
NM_001458.5(FLNC):c.5681T>G (p.Leu1894Arg)
|
rs2128938434
|
|
|
NM_001458.5(FLNC):c.5687T>G (p.Val1896Gly)
|
|
|
|
NM_001458.5(FLNC):c.5690A>G (p.Glu1897Gly)
|
|
|
|
NM_001458.5(FLNC):c.5693G>A (p.Gly1898Asp)
|
rs1808809802
|
|
|
NM_001458.5(FLNC):c.5696C>T (p.Pro1899Leu)
|
|
|
|
NM_001458.5(FLNC):c.5698T>C (p.Ser1900Pro)
|
|
|
|
NM_001458.5(FLNC):c.5700_5701insTGT (p.Ser1900_Lys1901insCys)
|
|
|
|
NM_001458.5(FLNC):c.5705C>A (p.Ala1902Glu)
|
|
|
|
NM_001458.5(FLNC):c.5713A>G (p.Thr1905Ala)
|
rs1808810815
|
|
|
NM_001458.5(FLNC):c.5714C>T (p.Thr1905Ile)
|
|
|
|
NM_001458.5(FLNC):c.5716T>C (p.Cys1906Arg)
|
rs1585166667
|
|
|
NM_001458.5(FLNC):c.5723A>C (p.Asp1908Ala)
|
rs2128938447
|
|
|
NM_001458.5(FLNC):c.5724C>A (p.Asp1908Glu)
|
rs2128938449
|
|
|
NM_001458.5(FLNC):c.5724CAA[1] (p.Asn1909del)
|
rs780830196
|
|
|
NM_001458.5(FLNC):c.5727C>A (p.Asn1909Lys)
|
|
|
|
NM_001458.5(FLNC):c.5750C>G (p.Ser1917Cys)
|
|
|
|
NM_001458.5(FLNC):c.5753A>G (p.Tyr1918Cys)
|
rs1808812647
|
|
|
NM_001458.5(FLNC):c.5770G>A (p.Gly1924Arg)
|
rs1585166739
|
|
|
NM_001458.5(FLNC):c.5776T>G (p.Tyr1926Asp)
|
rs1808814546
|
|
|
NM_001458.5(FLNC):c.5779A>G (p.Ser1927Gly)
|
rs369518785
|
|
|
NM_001458.5(FLNC):c.5785A>G (p.Ile1929Val)
|
|
|
|
NM_001458.5(FLNC):c.5797G>A (p.Asp1933Asn)
|
rs762297336
|
|
|
NM_001458.5(FLNC):c.5797G>T (p.Asp1933Tyr)
|
|
|
|
NM_001458.5(FLNC):c.5803A>G (p.Lys1935Glu)
|
rs1808817011
|
|
|
NM_001458.5(FLNC):c.5807A>C (p.His1936Pro)
|
rs1454768847
|
|
|
NM_001458.5(FLNC):c.5810T>A (p.Ile1937Asn)
|
rs1585166795
|
|
|
NM_001458.5(FLNC):c.5813C>T (p.Pro1938Leu)
|
rs764747370
|
|
|
NM_001458.5(FLNC):c.5819G>T (p.Ser1940Ile)
|
rs2128938494
|
|
|
NM_001458.5(FLNC):c.5822C>T (p.Pro1941Leu)
|
rs1808818042
|
|
|
NM_001458.5(FLNC):c.5826C>G (p.Phe1942Leu)
|
rs567779611
|
|
|
NM_001458.5(FLNC):c.5836A>G (p.Ile1946Val)
|
rs2128938499
|
|
|
NM_001458.5(FLNC):c.5837T>C (p.Ile1946Thr)
|
rs1808818903
|
|
|
NM_001458.5(FLNC):c.583G>A (p.Val195Met)
|
rs770955703
|
|
|
NM_001458.5(FLNC):c.5842+3G>A
|
rs2128938504
|
|
|
NM_001458.5(FLNC):c.5842+5G>C
|
rs1254947768
|
|
|
NM_001458.5(FLNC):c.5849A>G (p.Asp1950Gly)
|
|
|
|
NM_001458.5(FLNC):c.5854A>G (p.Met1952Val)
|
|
|
|
NM_001458.5(FLNC):c.587A>T (p.Asp196Val)
|
rs2128933694
|
|
|
NM_001458.5(FLNC):c.5882C>G (p.Thr1961Ser)
|
|
|
|
NM_001458.5(FLNC):c.5882C>T (p.Thr1961Ile)
|
rs1808867682
|
|
|
NM_001458.5(FLNC):c.5888C>A (p.Thr1963Lys)
|
rs772580545
|
|
|
NM_001458.5(FLNC):c.5893G>A (p.Val1965Met)
|
rs771255247
|
|
|
NM_001458.5(FLNC):c.5894T>G (p.Val1965Gly)
|
rs1585167670
|
|
|
NM_001458.5(FLNC):c.5906T>C (p.Ile1969Thr)
|
|
|
|
NM_001458.5(FLNC):c.5909C>T (p.Thr1970Ile)
|
rs1563002254
|
|
|
NM_001458.5(FLNC):c.5911G>A (p.Glu1971Lys)
|
|
|
|
NM_001458.5(FLNC):c.5919T>A (p.Asp1973Glu)
|
rs767053963
|
|
|
NM_001458.5(FLNC):c.5941A>G (p.Ile1981Val)
|
rs1808870602
|
|
|
NM_001458.5(FLNC):c.595G>A (p.Ala199Thr)
|
rs1410315376
|
|
|
NM_001458.5(FLNC):c.5978T>G (p.Leu1993Arg)
|
rs1808872550
|
|
|
NM_001458.5(FLNC):c.5990C>T (p.Pro1997Leu)
|
|
|
|
NM_001458.5(FLNC):c.5993A>C (p.Asn1998Thr)
|
|
|
|
NM_001458.5(FLNC):c.5994C>A (p.Asn1998Lys)
|
|
|
|
NM_001458.5(FLNC):c.5T>C (p.Met2Thr)
|
|
|
|
NM_001458.5(FLNC):c.6002T>C (p.Ile2001Thr)
|
rs1554400940
|
|
|
NM_001458.5(FLNC):c.6004+3G>A
|
|
|
|
NM_001458.5(FLNC):c.6005-14C>G
|
rs1012108263
|
|
|
NM_001458.5(FLNC):c.6008T>A (p.Ile2003Asn)
|
|
|
|
NM_001458.5(FLNC):c.601G>A (p.Gly201Ser)
|
rs1808062939
|
|
|
NM_001458.5(FLNC):c.601G>C (p.Gly201Arg)
|
|
|
|
NM_001458.5(FLNC):c.602-3C>T
|
rs774453069
|
|
|
NM_001458.5(FLNC):c.6020C>T (p.Pro2007Leu)
|
rs2128938868
|
|
|
NM_001458.5(FLNC):c.6023A>G (p.Lys2008Arg)
|
|
|
|
NM_001458.5(FLNC):c.6039C>A (p.His2013Gln)
|
|
|
|
NM_001458.5(FLNC):c.6040G>C (p.Val2014Leu)
|
rs772477251
|
|
|
NM_001458.5(FLNC):c.6049G>T (p.Val2017Leu)
|
|
|
|
NM_001458.5(FLNC):c.6050T>G (p.Val2017Gly)
|
rs2128938884
|
|
|
NM_001458.5(FLNC):c.6058A>T (p.Ser2020Cys)
|
rs537114122
|
|
|
NM_001458.5(FLNC):c.6062G>A (p.Gly2021Asp)
|
rs1439304519
|
|
|
NM_001458.5(FLNC):c.6063C>T (p.Gly2021=)
|
|
|
|
NM_001458.5(FLNC):c.6074C>T (p.Thr2025Ile)
|
rs767695121
|
|
|
NM_001458.5(FLNC):c.6095T>C (p.Leu2032Pro)
|
rs1554400980
|
|
|
NM_001458.5(FLNC):c.6104C>T (p.Pro2035Leu)
|
rs1808884606
|
|
|
NM_001458.5(FLNC):c.6106T>G (p.Ser2036Ala)
|
|
|
|
NM_001458.5(FLNC):c.6112A>C (p.Ile2038Leu)
|
rs2128938907
|
|
|
NM_001458.5(FLNC):c.6114C>G (p.Ile2038Met)
|
rs559639511
|
|
|
NM_001458.5(FLNC):c.6121G>A (p.Ala2041Thr)
|
rs745842738
|
|
|
NM_001458.5(FLNC):c.6121G>T (p.Ala2041Ser)
|
rs745842738
|
|
|
NM_001458.5(FLNC):c.6122C>A (p.Ala2041Asp)
|
rs1585168065
|
|
|
NM_001458.5(FLNC):c.6129G>T (p.Lys2043Asn)
|
|
|
|
NM_001458.5(FLNC):c.6130G>T (p.Val2044Leu)
|
|
|
|
NM_001458.5(FLNC):c.6133C>A (p.Arg2045=)
|
rs762748670
|
|
|
NM_001458.5(FLNC):c.6133C>T (p.Arg2045Trp)
|
|
|
|
NM_001458.5(FLNC):c.6134G>C (p.Arg2045Pro)
|
|
|
|
NM_001458.5(FLNC):c.6136G>A (p.Val2046Ile)
|
|
|
|
NM_001458.5(FLNC):c.6136G>T (p.Val2046Phe)
|
|
|
|
NM_001458.5(FLNC):c.6148G>A (p.Gly2050Arg)
|
rs1585168103
|
|
|
NM_001458.5(FLNC):c.6152T>G (p.Leu2051Arg)
|
rs2128938929
|
|
|
NM_001458.5(FLNC):c.6160G>A (p.Gly2054Arg)
|
rs1808887627
|
|
|
NM_001458.5(FLNC):c.6166A>G (p.Thr2056Ala)
|
rs1808887741
|
|
|
NM_001458.5(FLNC):c.6170T>C (p.Phe2057Ser)
|
rs1554400996
|
|
|
NM_001458.5(FLNC):c.6173A>G (p.Gln2058Arg)
|
|
|
|
NM_001458.5(FLNC):c.6178G>A (p.Ala2060Thr)
|
|
|
|
NM_001458.5(FLNC):c.6189C>A (p.Ile2063=)
|
|
|
|
NM_001458.5(FLNC):c.6199C>T (p.Arg2067Cys)
|
rs754160175
|
|
|
NM_001458.5(FLNC):c.6205G>A (p.Ala2069Thr)
|
rs368562957
|
|
|
NM_001458.5(FLNC):c.6208+3A>G
|
rs1585168169
|
|
|
NM_001458.5(FLNC):c.6208+4C>T
|
rs1554401011
|
|
|
NM_001458.5(FLNC):c.6208G>A (p.Gly2070Ser)
|
|
|
|
NM_001458.5(FLNC):c.6209G>A (p.Gly2070Asp)
|
|
|
|
NM_001458.5(FLNC):c.6212A>G (p.Tyr2071Cys)
|
rs2128939068
|
|
|
NM_001458.5(FLNC):c.6214G>A (p.Gly2072Arg)
|
rs2128939071
|
|
|
NM_001458.5(FLNC):c.6217G>T (p.Gly2073Cys)
|
rs1366093926
|
|
|
NM_001458.5(FLNC):c.6218G>A (p.Gly2073Asp)
|
|
|
|
NM_001458.5(FLNC):c.6218G>C (p.Gly2073Ala)
|
rs922864783
|
|
|
NM_001458.5(FLNC):c.622G>C (p.Ala208Pro)
|
|
|
|
NM_001458.5(FLNC):c.6230G>A (p.Ser2077Asn)
|
|
|
|
NM_001458.5(FLNC):c.6238G>C (p.Gly2080Arg)
|
rs1808912488
|
|
|
NM_001458.5(FLNC):c.6239G>A (p.Gly2080Asp)
|
rs2128939083
|
|
|
NM_001458.5(FLNC):c.6244A>C (p.Ser2082Arg)
|
rs2128939089
|
|
|
NM_001458.5(FLNC):c.6246C>T (p.Ser2082=)
|
rs1554401089
|
|
|
NM_001458.5(FLNC):c.6248A>C (p.Lys2083Thr)
|
rs2128939092
|
|
|
NM_001458.5(FLNC):c.6250G>T (p.Val2084Leu)
|
|
|
|
NM_001458.5(FLNC):c.6251T>A (p.Val2084Glu)
|
rs2128939097
|
|
|
NM_001458.5(FLNC):c.6256A>G (p.Ile2086Val)
|
|
|
|
NM_001458.5(FLNC):c.6257T>C (p.Ile2086Thr)
|
rs1808913302
|
|
|
NM_001458.5(FLNC):c.6260A>T (p.Asn2087Ile)
|
|
|
|
NM_001458.5(FLNC):c.6263G>A (p.Cys2088Tyr)
|
|
|
|
NM_001458.5(FLNC):c.6275A>G (p.Glu2092Gly)
|
rs1808914162
|
|
|
NM_001458.5(FLNC):c.6277G>A (p.Asp2093Asn)
|
|
|
|
NM_001458.5(FLNC):c.6278A>C (p.Asp2093Ala)
|
rs749292393
|
|
|
NM_001458.5(FLNC):c.6283A>T (p.Thr2095Ser)
|
rs373022507
|
|
|
NM_001458.5(FLNC):c.6292G>A (p.Val2098Ile)
|
rs2128939110
|
|
|
NM_001458.5(FLNC):c.6292G>C (p.Val2098Leu)
|
rs2128939110
|
|
|
NM_001458.5(FLNC):c.6296C>A (p.Thr2099Asn)
|
rs771090404
|
|
|
NM_001458.5(FLNC):c.6307A>G (p.Thr2103Ala)
|
|
|
|
NM_001458.5(FLNC):c.6308C>T (p.Thr2103Ile)
|
|
|
|
NM_001458.5(FLNC):c.6310G>A (p.Glu2104Lys)
|
rs753069149
|
|
|
NM_001458.5(FLNC):c.6310G>C (p.Glu2104Gln)
|
rs753069149
|
|
|
NM_001458.5(FLNC):c.6316G>A (p.Gly2106Ser)
|
|
|
|
NM_001458.5(FLNC):c.6340T>C (p.Phe2114Leu)
|
|
|
|
NM_001458.5(FLNC):c.6348C>G (p.Asp2116Glu)
|
|
|
|
NM_001458.5(FLNC):c.6354C>A (p.His2118Gln)
|
|
|
|
NM_001458.5(FLNC):c.6358C>T (p.Pro2120Ser)
|
|
|
|
NM_001458.5(FLNC):c.6359C>G (p.Pro2120Arg)
|
rs1808918849
|
|
|
NM_001458.5(FLNC):c.635A>T (p.Asn212Ile)
|
rs756723697
|
|
|
NM_001458.5(FLNC):c.6360T>C (p.Pro2120=)
|
|
|
|
NM_001458.5(FLNC):c.6361+5G>A
|
rs1808919247
|
|
|
NM_001458.5(FLNC):c.6362-3C>T
|
|
|
|
NM_001458.5(FLNC):c.6362-5T>G
|
rs2128939165
|
|
|
NM_001458.5(FLNC):c.6374C>G (p.Thr2125Ser)
|
rs371455516
|
|
|
NM_001458.5(FLNC):c.6381_6386dup (p.Val2128_Thr2129dup)
|
rs1808924597
|
|
|
NM_001458.5(FLNC):c.6397C>T (p.Arg2133Cys)
|
rs1186464414
|
|
|
NM_001458.5(FLNC):c.6398G>T (p.Arg2133Leu)
|
rs1808925531
|
|
|
NM_001458.5(FLNC):c.6416C>G (p.Thr2139Ser)
|
|
|
|
NM_001458.5(FLNC):c.6421C>T (p.Arg2141Trp)
|
rs1808926604
|
|
|
NM_001458.5(FLNC):c.6422G>A (p.Arg2141Gln)
|
rs769106207
|
|
|
NM_001458.5(FLNC):c.6442G>A (p.Ala2148Thr)
|
|
|
|
NM_001458.5(FLNC):c.6445A>G (p.Thr2149Ala)
|
|
|
|
NM_001458.5(FLNC):c.6450C>A (p.Ile2150=)
|
rs776206819
|
|
|
NM_001458.5(FLNC):c.6451G>A (p.Gly2151Ser)
|
rs1563003159
|
|
|
NM_001458.5(FLNC):c.6451G>T (p.Gly2151Cys)
|
rs1563003159
|
|
|
NM_001458.5(FLNC):c.6460T>A (p.Cys2154Ser)
|
rs1554401153
|
|
|
NM_001458.5(FLNC):c.6472C>T (p.Leu2158Phe)
|
|
|
|
NM_001458.5(FLNC):c.6478A>T (p.Ile2160Phe)
|
rs879255640
|
|
|
NM_001458.5(FLNC):c.6479T>C (p.Ile2160Thr)
|
|
|
|
NM_001458.5(FLNC):c.6490T>C (p.Trp2164Arg)
|
rs1808936908
|
|
|
NM_001458.5(FLNC):c.6492G>C (p.Trp2164Cys)
|
|
|
|
NM_001458.5(FLNC):c.6497A>C (p.Gln2166Pro)
|
|
|
|
NM_001458.5(FLNC):c.6497A>T (p.Gln2166Leu)
|
|
|
|
NM_001458.5(FLNC):c.6499A>G (p.Met2167Val)
|
rs2128939248
|
|
|
NM_001458.5(FLNC):c.6500T>C (p.Met2167Thr)
|
|
|
|
NM_001458.5(FLNC):c.6517C>A (p.Arg2173Ser)
|
|
|
|
NM_001458.5(FLNC):c.6517C>G (p.Arg2173Gly)
|
|
|
|
NM_001458.5(FLNC):c.6518G>A (p.Arg2173His)
|
|
|
|
NM_001458.5(FLNC):c.6521T>C (p.Leu2174Pro)
|
|
|
|
NM_001458.5(FLNC):c.6526C>T (p.Arg2176Cys)
|
rs376885778
|
|
|
NM_001458.5(FLNC):c.6530C>T (p.Thr2177Ile)
|
|
|
|
NM_001458.5(FLNC):c.6531C>T (p.Thr2177=)
|
|
|
|
NM_001458.5(FLNC):c.6533T>C (p.Phe2178Ser)
|
rs1554401204
|
|
|
NM_001458.5(FLNC):c.6539G>A (p.Arg2180His)
|
rs1554401209
|
|
|
NM_001458.5(FLNC):c.6539G>C (p.Arg2180Pro)
|
rs1554401209
|
|
|
NM_001458.5(FLNC):c.6541AGC[1] (p.Ser2182del)
|
|
|
|
NM_001458.5(FLNC):c.6544A>G (p.Ser2182Gly)
|
|
|
|
NM_001458.5(FLNC):c.6559CGCACGGAG[3] (p.2187RTE[3])
|
rs1808941149
|
|
|
NM_001458.5(FLNC):c.6560G>A (p.Arg2187His)
|
|
|
|
NM_001458.5(FLNC):c.6565G>A (p.Glu2189Lys)
|
|
|
|
NM_001458.5(FLNC):c.6568C>A (p.Arg2190Ser)
|
rs1474675847
|
|
|
NM_001458.5(FLNC):c.656G>A (p.Arg219Gln)
|
|
|
|
NM_001458.5(FLNC):c.6574G>A (p.Glu2192Lys)
|
|
|
|
NM_001458.5(FLNC):c.6589C>T (p.Arg2197Trp)
|
rs1808943188
|
|
|
NM_001458.5(FLNC):c.658G>C (p.Glu220Gln)
|
rs2128934071
|
|
|
NM_001458.5(FLNC):c.65C>G (p.Pro22Arg)
|
|
|
|
NM_001458.5(FLNC):c.65C>T (p.Pro22Leu)
|
|
|
|
NM_001458.5(FLNC):c.6602C>T (p.Thr2201Ile)
|
rs1585169205
|
|
|
NM_001458.5(FLNC):c.6607C>G (p.Arg2203Gly)
|
rs758838323
|
|
|
NM_001458.5(FLNC):c.6616C>G (p.Arg2206Gly)
|
|
|
|
NM_001458.5(FLNC):c.6616C>T (p.Arg2206Trp)
|
rs867032077
|
|
|
NM_001458.5(FLNC):c.6617G>A (p.Arg2206Gln)
|
rs781671804
|
|
|
NM_001458.5(FLNC):c.6617G>C (p.Arg2206Pro)
|
rs781671804
|
|
|
NM_001458.5(FLNC):c.661G>A (p.Ala221Thr)
|
rs1585152566
|
|
|
NM_001458.5(FLNC):c.6620T>C (p.Val2207Ala)
|
|
|
|
NM_001458.5(FLNC):c.6621_6638del (p.Glu2208_Val2213del)
|
rs2128939305
|
|
|
NM_001458.5(FLNC):c.6632C>T (p.Thr2211Ile)
|
rs1808946811
|
|
|
NM_001458.5(FLNC):c.6646G>A (p.Asp2216Asn)
|
rs1808947656
|
|
|
NM_001458.5(FLNC):c.664A>T (p.Met222Leu)
|
rs2128934074
|
|
|
NM_001458.5(FLNC):c.6650C>T (p.Pro2217Leu)
|
|
|
|
NM_001458.5(FLNC):c.6656C>A (p.Pro2219His)
|
rs1808948567
|
|
|
NM_001458.5(FLNC):c.6661G>A (p.Val2221Met)
|
rs1198252355
|
|
|
NM_001458.5(FLNC):c.6662T>C (p.Val2221Ala)
|
rs2128939339
|
|
|
NM_001458.5(FLNC):c.6665T>C (p.Phe2222Ser)
|
rs1554401281
|
|
|
NM_001458.5(FLNC):c.6677T>A (p.Leu2226Gln)
|
|
|
|
NM_001458.5(FLNC):c.6682C>T (p.Arg2228Trp)
|
rs1196014760
|
|
|
NM_001458.5(FLNC):c.6685G>A (p.Glu2229Lys)
|
|
|
|
NM_001458.5(FLNC):c.6688C>T (p.Arg2230Cys)
|
rs374186437
|
|
|
NM_001458.5(FLNC):c.6707G>C (p.Ser2236Thr)
|
rs1808951957
|
|
|
NM_001458.5(FLNC):c.6712A>G (p.Thr2238Ala)
|
|
|
|
NM_001458.5(FLNC):c.6713C>A (p.Thr2238Asn)
|
|
|
|
NM_001458.5(FLNC):c.6713C>T (p.Thr2238Ile)
|
rs1043618669
|
|
|
NM_001458.5(FLNC):c.6715C>G (p.Arg2239Gly)
|
|
|
|
NM_001458.5(FLNC):c.6716G>A (p.Arg2239Gln)
|
rs1350832784
|
|
|
NM_001458.5(FLNC):c.6716G>T (p.Arg2239Leu)
|
rs1350832784
|
|
|
NM_001458.5(FLNC):c.6727+5G>A
|
|
|
|
NM_001458.5(FLNC):c.6728-3C>T
|
|
|
|
NM_001458.5(FLNC):c.6730G>A (p.Glu2244Lys)
|
rs1340208212
|
|
|
NM_001458.5(FLNC):c.6737G>A (p.Ser2246Asn)
|
|
|
|
NM_001458.5(FLNC):c.6737G>C (p.Ser2246Thr)
|
|
|
|
NM_001458.5(FLNC):c.673G>T (p.Ala225Ser)
|
rs1808127026
|
|
|
NM_001458.5(FLNC):c.674C>T (p.Ala225Val)
|
|
|
|
NM_001458.5(FLNC):c.6775G>A (p.Gly2259Ser)
|
|
|
|
NM_001458.5(FLNC):c.6777C>T (p.Gly2259=)
|
rs1057161787
|
|
|
NM_001458.5(FLNC):c.678C>A (p.Asp226Glu)
|
|
|
|
NM_001458.5(FLNC):c.679G>A (p.Asp227Asn)
|
|
|
|
NM_001458.5(FLNC):c.6823A>G (p.Ser2275Gly)
|
|
|
|
NM_001458.5(FLNC):c.6826G>A (p.Val2276Met)
|
rs1207179287
|
|
|
NM_001458.5(FLNC):c.6830G>A (p.Arg2277His)
|
rs1186556555
|
|
|
NM_001458.5(FLNC):c.6843G>A (p.Gln2281=)
|
rs2128939497
|
|
|
NM_001458.5(FLNC):c.6845A>G (p.Glu2282Gly)
|
rs1808970524
|
|
|
NM_001458.5(FLNC):c.6848T>C (p.Met2283Thr)
|
rs1174754248
|
|
|
NM_001458.5(FLNC):c.6856C>T (p.His2286Tyr)
|
|
|
|
NM_001458.5(FLNC):c.6862G>C (p.Val2288Leu)
|
rs953084143
|
|
|
NM_001458.5(FLNC):c.6893C>A (p.Pro2298His)
|
|
|
|
NM_001458.5(FLNC):c.6893C>T (p.Pro2298Leu)
|
rs1382734231
|
|
|
NM_001458.5(FLNC):c.6905T>C (p.Phe2302Ser)
|
|
|
|
NM_001458.5(FLNC):c.6909G>C (p.Gln2303His)
|
|
|
|
NM_001458.5(FLNC):c.6912C>G (p.Phe2304Leu)
|
|
|
|
NM_001458.5(FLNC):c.691G>T (p.Val231Leu)
|
|
|
|
NM_001458.5(FLNC):c.6932A>C (p.Glu2311Ala)
|
|
|
|
NM_001458.5(FLNC):c.6937G>A (p.Gly2313Ser)
|
|
|
|
NM_001458.5(FLNC):c.6938G>A (p.Gly2313Asp)
|
rs1808975955
|
|
|
NM_001458.5(FLNC):c.6946A>G (p.Lys2316Glu)
|
|
|
|
NM_001458.5(FLNC):c.6949G>A (p.Val2317Met)
|
|
|
|
NM_001458.5(FLNC):c.6987C>A (p.Ala2329=)
|
|
|
|
NM_001458.5(FLNC):c.699+3_699+7del
|
|
|
|
NM_001458.5(FLNC):c.6998-9T>A
|
|
|
|
NM_001458.5(FLNC):c.7000G>A (p.Glu2334Lys)
|
rs1808984299
|
|
|
NM_001458.5(FLNC):c.7007G>T (p.Ser2336Ile)
|
|
|
|
NM_001458.5(FLNC):c.7016C>T (p.Thr2339Ile)
|
rs1554401463
|
|
|
NM_001458.5(FLNC):c.7018C>T (p.Arg2340Trp)
|
rs2128939610
|
|
|
NM_001458.5(FLNC):c.7025C>T (p.Ala2342Val)
|
rs2128939613
|
|
|
NM_001458.5(FLNC):c.7028G>A (p.Gly2343Asp)
|
|
|
|
NM_001458.5(FLNC):c.7030G>C (p.Ala2344Pro)
|
rs529917784
|
|
|
NM_001458.5(FLNC):c.7055A>T (p.Glu2352Val)
|
|
|
|
NM_001458.5(FLNC):c.7066A>G (p.Lys2356Glu)
|
rs2128939626
|
|
|
NM_001458.5(FLNC):c.7070C>T (p.Ala2357Val)
|
rs765841097
|
|
|
NM_001458.5(FLNC):c.7070_7072del (p.Ala2357del)
|
rs1554401479
|
|
|
NM_001458.5(FLNC):c.7075A>G (p.Ile2359Val)
|
rs1554401481
|
|
|
NM_001458.5(FLNC):c.7078G>A (p.Ala2360Thr)
|
rs1390516682
|
|
|
NM_001458.5(FLNC):c.7078G>C (p.Ala2360Pro)
|
|
|
|
NM_001458.5(FLNC):c.707C>T (p.Ala236Val)
|
rs771789906
|
|
|
NM_001458.5(FLNC):c.7082T>C (p.Phe2361Ser)
|
|
|
|
NM_001458.5(FLNC):c.7090C>A (p.Arg2364Ser)
|
rs374973240
|
|
|
NM_001458.5(FLNC):c.7099G>A (p.Gly2367Ser)
|
|
|
|
NM_001458.5(FLNC):c.7106G>A (p.Cys2369Tyr)
|
rs2128939641
|
|
|
NM_001458.5(FLNC):c.710C>T (p.Pro237Leu)
|
rs1585152751
|
|
|
NM_001458.5(FLNC):c.7118A>T (p.Tyr2373Phe)
|
rs1021731214
|
|
|
NM_001458.5(FLNC):c.7138G>A (p.Asp2380Asn)
|
rs1334300883
|
|
|
NM_001458.5(FLNC):c.7138G>C (p.Asp2380His)
|
rs1334300883
|
|
|
NM_001458.5(FLNC):c.7142A>G (p.Tyr2381Cys)
|
|
|
|
NM_001458.5(FLNC):c.7171C>T (p.His2391Tyr)
|
rs1554401558
|
|
|
NM_001458.5(FLNC):c.7176C>G (p.Ile2392Met)
|
rs1585170543
|
|
|
NM_001458.5(FLNC):c.7177C>G (p.Pro2393Ala)
|
rs1554401559
|
|
|
NM_001458.5(FLNC):c.7178C>G (p.Pro2393Arg)
|
|
|
|
NM_001458.5(FLNC):c.7178C>T (p.Pro2393Leu)
|
rs2128939746
|
|
|
NM_001458.5(FLNC):c.7180G>C (p.Asp2394His)
|
rs1554401561
|
|
|
NM_001458.5(FLNC):c.7186C>T (p.Pro2396Ser)
|
rs1809007749
|
|
|
NM_001458.5(FLNC):c.7195G>A (p.Val2399Met)
|
rs2128939752
|
|
|
NM_001458.5(FLNC):c.7198C>T (p.Pro2400Ser)
|
rs1390223951
|
|
|
NM_001458.5(FLNC):c.719T>C (p.Ile240Thr)
|
rs778626535
|
|
|
NM_001458.5(FLNC):c.71C>A (p.Thr24Lys)
|
rs1251048006
|
|
|
NM_001458.5(FLNC):c.7204G>C (p.Ala2402Pro)
|
|
|
|
NM_001458.5(FLNC):c.7207T>C (p.Ser2403Pro)
|
|
|
|
NM_001458.5(FLNC):c.720_721inv (p.Val241Met)
|
|
|
|
NM_001458.5(FLNC):c.7210C>T (p.Leu2404Phe)
|
rs764034824
|
|
|
NM_001458.5(FLNC):c.7214C>T (p.Ser2405Leu)
|
rs2128939759
|
|
|
NM_001458.5(FLNC):c.7217A>T (p.Asp2406Val)
|
|
|
|
NM_001458.5(FLNC):c.7235C>T (p.Thr2412Ile)
|
|
|
|
NM_001458.5(FLNC):c.7238T>C (p.Val2413Ala)
|
|
|
|
NM_001458.5(FLNC):c.7252-12T>C
|
|
|
|
NM_001458.5(FLNC):c.7268T>A (p.Val2423Glu)
|
|
|
|
NM_001458.5(FLNC):c.7275G>C (p.Gln2425His)
|
rs2128940112
|
|
|
NM_001458.5(FLNC):c.7276_7281del (p.Pro2426_Ala2427del)
|
|
|
|
NM_001458.5(FLNC):c.7303G>A (p.Gly2435Ser)
|
|
|
|
NM_001458.5(FLNC):c.7313G>A (p.Gly2438Asp)
|
rs2128940134
|
|
|
NM_001458.5(FLNC):c.7313_7330dup (p.Gly2438_Arg2443dup)
|
rs1554401762
|
|
|
NM_001458.5(FLNC):c.7318A>G (p.Ile2440Val)
|
|
|
|
NM_001458.5(FLNC):c.7319T>C (p.Ile2440Thr)
|
rs764628080
|
|
|
NM_001458.5(FLNC):c.7327C>T (p.Arg2443Trp)
|
rs1585171621
|
|
|
NM_001458.5(FLNC):c.7328G>C (p.Arg2443Pro)
|
rs370293647
|
|
|
NM_001458.5(FLNC):c.7339C>A (p.Pro2447Thr)
|
rs1554401770
|
|
|
NM_001458.5(FLNC):c.7342T>G (p.Ser2448Ala)
|
rs2128940146
|
|
|
NM_001458.5(FLNC):c.7346G>A (p.Gly2449Glu)
|
rs1322256692
|
|
|
NM_001458.5(FLNC):c.7348G>A (p.Ala2450Thr)
|
|
|
|
NM_001458.5(FLNC):c.7349C>A (p.Ala2450Asp)
|
rs1809071622
|
|
|
NM_001458.5(FLNC):c.7379A>G (p.Asp2460Gly)
|
rs2128940164
|
|
|
NM_001458.5(FLNC):c.7385-3C>A
|
|
|
|
NM_001458.5(FLNC):c.7386C>G (p.Asp2462Glu)
|
rs2128940208
|
|
|
NM_001458.5(FLNC):c.7387A>G (p.Lys2463Glu)
|
|
|
|
NM_001458.5(FLNC):c.7393A>G (p.Thr2465Ala)
|
|
|
|
NM_001458.5(FLNC):c.7399C>G (p.Arg2467Gly)
|
|
|
|
NM_001458.5(FLNC):c.7400G>C (p.Arg2467Pro)
|
rs775910704
|
|
|
NM_001458.5(FLNC):c.7402T>A (p.Phe2468Ile)
|
|
|
|
NM_001458.5(FLNC):c.7414G>A (p.Glu2472Lys)
|
rs948675422
|
|
|
NM_001458.5(FLNC):c.7420G>C (p.Gly2474Arg)
|
|
|
|
NM_001458.5(FLNC):c.7421G>T (p.Gly2474Val)
|
|
|
|
NM_001458.5(FLNC):c.7427A>G (p.His2476Arg)
|
rs1563005164
|
|
|
NM_001458.5(FLNC):c.7430C>A (p.Ser2477Tyr)
|
|
|
|
NM_001458.5(FLNC):c.7430C>T (p.Ser2477Phe)
|
rs2128940229
|
|
|
NM_001458.5(FLNC):c.7439T>G (p.Val2480Gly)
|
|
|
|
NM_001458.5(FLNC):c.743A>T (p.His248Leu)
|
|
|
|
NM_001458.5(FLNC):c.7454C>T (p.Ala2485Val)
|
|
|
|
NM_001458.5(FLNC):c.7455C>G (p.Ala2485=)
|
rs1554401819
|
|
|
NM_001458.5(FLNC):c.7462C>T (p.Pro2488Ser)
|
rs1563005191
|
|
|
NM_001458.5(FLNC):c.7466G>A (p.Gly2489Glu)
|
rs2128940243
|
|
|
NM_001458.5(FLNC):c.7486G>T (p.Val2496Phe)
|
rs200295337
|
|
|
NM_001458.5(FLNC):c.7487T>C (p.Val2496Ala)
|
rs1284210024
|
|
|
NM_001458.5(FLNC):c.7504G>A (p.Ala2502Thr)
|
rs2128940257
|
|
|
NM_001458.5(FLNC):c.7507G>A (p.Gly2503Arg)
|
rs2128940258
|
|
|
NM_001458.5(FLNC):c.7510G>A (p.Asp2504Asn)
|
|
|
|
NM_001458.5(FLNC):c.7513C>A (p.Pro2505Thr)
|
|
|
|
NM_001458.5(FLNC):c.7516G>A (p.Gly2506Ser)
|
rs1809085479
|
|
|
NM_001458.5(FLNC):c.7516G>C (p.Gly2506Arg)
|
rs1809085479
|
|
|
NM_001458.5(FLNC):c.751A>G (p.Met251Val)
|
|
|
|
NM_001458.5(FLNC):c.7523T>G (p.Val2508Gly)
|
rs2128940265
|
|
|
NM_001458.5(FLNC):c.7528G>C (p.Ala2510Pro)
|
|
|
|
NM_001458.5(FLNC):c.7553G>A (p.Gly2518Asp)
|
|
|
|
NM_001458.5(FLNC):c.7556C>A (p.Thr2519Asn)
|
|
|
|
NM_001458.5(FLNC):c.7561+3G>A
|
|
|
|
NM_001458.5(FLNC):c.7561G>C (p.Gly2521Arg)
|
|
|
|
NM_001458.5(FLNC):c.7562-2_7581dup
|
rs1809097279
|
|
|
NM_001458.5(FLNC):c.7562-3C>G
|
|
|
|
NM_001458.5(FLNC):c.7562-3C>T
|
rs1358745378
|
|
|
NM_001458.5(FLNC):c.7565T>C (p.Val2522Ala)
|
|
|
|
NM_001458.5(FLNC):c.7580T>G (p.Ile2527Ser)
|
rs749891076
|
|
|
NM_001458.5(FLNC):c.7596T>A (p.Asn2532Lys)
|
rs377522797
|
|
|
NM_001458.5(FLNC):c.7597G>A (p.Ala2533Thr)
|
|
|
|
NM_001458.5(FLNC):c.7597G>C (p.Ala2533Pro)
|
|
|
|
NM_001458.5(FLNC):c.7600G>A (p.Gly2534Ser)
|
|
|
|
NM_001458.5(FLNC):c.7600G>T (p.Gly2534Cys)
|
rs372504725
|
|
|
NM_001458.5(FLNC):c.7601G>T (p.Gly2534Val)
|
rs778822005
|
|
|
NM_001458.5(FLNC):c.7606G>A (p.Gly2536Arg)
|
rs1809100312
|
|
|
NM_001458.5(FLNC):c.7606G>C (p.Gly2536Arg)
|
rs1809100312
|
|
|
NM_001458.5(FLNC):c.7609G>A (p.Ala2537Thr)
|
rs201486752
|
|
|
NM_001458.5(FLNC):c.7610C>A (p.Ala2537Asp)
|
rs1394723230
|
|
|
NM_001458.5(FLNC):c.7624A>G (p.Ile2542Val)
|
|
|
|
NM_001458.5(FLNC):c.7626T>G (p.Ile2542Met)
|
rs1554401890
|
|
|
NM_001458.5(FLNC):c.7630G>A (p.Gly2544Ser)
|
rs2128940366
|
|
|
NM_001458.5(FLNC):c.7636T>A (p.Ser2546Thr)
|
rs200673841
|
|
|
NM_001458.5(FLNC):c.7649T>C (p.Leu2550Pro)
|
|
|
|
NM_001458.5(FLNC):c.7664G>C (p.Cys2555Ser)
|
rs1585172407
|
|
|
NM_001458.5(FLNC):c.7666C>G (p.Pro2556Ala)
|
rs765967888
|
|
|
NM_001458.5(FLNC):c.7667C>T (p.Pro2556Leu)
|
rs1809104361
|
|
|
NM_001458.5(FLNC):c.7679T>C (p.Val2560Ala)
|
rs931678640
|
|
|
NM_001458.5(FLNC):c.7690A>C (p.Thr2564Pro)
|
|
|
|
NM_001458.5(FLNC):c.7690A>T (p.Thr2564Ser)
|
|
|
|
NM_001458.5(FLNC):c.7691C>T (p.Thr2564Ile)
|
rs1405868407
|
|
|
NM_001458.5(FLNC):c.7693C>T (p.Pro2565Ser)
|
rs1554401906
|
|
|
NM_001458.5(FLNC):c.7696A>G (p.Met2566Val)
|
|
|
|
NM_001458.5(FLNC):c.7697T>C (p.Met2566Thr)
|
|
|
|
NM_001458.5(FLNC):c.7699G>A (p.Ala2567Thr)
|
|
|
|
NM_001458.5(FLNC):c.76A>G (p.Lys26Glu)
|
rs1562988843
|
|
|
NM_001458.5(FLNC):c.7703C>T (p.Pro2568Leu)
|
|
|
|
NM_001458.5(FLNC):c.7709A>C (p.Asn2570Thr)
|
|
|
|
NM_001458.5(FLNC):c.7727A>C (p.Lys2576Thr)
|
rs1554401912
|
|
|
NM_001458.5(FLNC):c.7728G>T (p.Lys2576Asn)
|
|
|
|
NM_001458.5(FLNC):c.7748T>C (p.Ile2583Thr)
|
|
|
|
NM_001458.5(FLNC):c.7765A>G (p.Lys2589Glu)
|
rs1809109347
|
|
|
NM_001458.5(FLNC):c.7768G>T (p.Ala2590Ser)
|
rs1354641654
|
|
|
NM_001458.5(FLNC):c.7772A>G (p.Lys2591Arg)
|
|
|
|
NM_001458.5(FLNC):c.7774G>T (p.Val2592Phe)
|
rs1268909811
|
|
|
NM_001458.5(FLNC):c.7780+3G>C
|
|
|
|
NM_001458.5(FLNC):c.7781-3C>T
|
rs1444704657
|
|
|
NM_001458.5(FLNC):c.7781-8C>G
|
rs1363938739
|
|
|
NM_001458.5(FLNC):c.7798G>A (p.Gly2600Ser)
|
|
|
|
NM_001458.5(FLNC):c.77A>C (p.Lys26Thr)
|
rs2128932111
|
|
|
NM_001458.5(FLNC):c.7813G>A (p.Glu2605Lys)
|
rs1480530077
|
|
|
NM_001458.5(FLNC):c.7819T>G (p.Ser2607Ala)
|
rs1809143753
|
|
|
NM_001458.5(FLNC):c.7832T>G (p.Val2611Gly)
|
rs2128940575
|
|
|
NM_001458.5(FLNC):c.7836G>C (p.Glu2612Asp)
|
|
|
|
NM_001458.5(FLNC):c.783G>C (p.Lys261Asn)
|
rs976229219
|
|
|
NM_001458.5(FLNC):c.7847A>C (p.Lys2616Thr)
|
rs1585172975
|
|
|
NM_001458.5(FLNC):c.7858A>T (p.Ser2620Cys)
|
|
|
|
NM_001458.5(FLNC):c.7864G>T (p.Gly2622Cys)
|
rs2128940583
|
|
|
NM_001458.5(FLNC):c.7893CTC[1] (p.Ser2633del)
|
rs767277303
|
|
|
NM_001458.5(FLNC):c.7906A>T (p.Ser2636Cys)
|
rs1563005954
|
|
|
NM_001458.5(FLNC):c.7907G>A (p.Ser2636Asn)
|
|
|
|
NM_001458.5(FLNC):c.7907G>T (p.Ser2636Ile)
|
rs1424306829
|
|
|
NM_001458.5(FLNC):c.7915G>A (p.Val2639Met)
|
rs2128940599
|
|
|
NM_001458.5(FLNC):c.7921C>T (p.Arg2641Trp)
|
rs750629528
|
|
|
NM_001458.5(FLNC):c.7931G>C (p.Gly2644Ala)
|
rs2128940603
|
|
|
NM_001458.5(FLNC):c.7934T>C (p.Leu2645Pro)
|
|
|
|
NM_001458.5(FLNC):c.7949T>A (p.Val2650Glu)
|
|
|
|
NM_001458.5(FLNC):c.7956G>C (p.Gln2652His)
|
|
|
|
NM_001458.5(FLNC):c.796G>A (p.Ala266Thr)
|
|
|
|
NM_001458.5(FLNC):c.7979G>A (p.Cys2660Tyr)
|
|
|
|
NM_001458.5(FLNC):c.797C>T (p.Ala266Val)
|
|
|
|
NM_001458.5(FLNC):c.7982G>A (p.Ser2661Asn)
|
|
|
|
NM_001458.5(FLNC):c.7990+11G>A
|
|
|
|
NM_001458.5(FLNC):c.7991-3C>T
|
|
|
|
NM_001458.5(FLNC):c.7999ATG[2] (p.Met2669del)
|
rs1809158348
|
|
|
NM_001458.5(FLNC):c.8002A>G (p.Met2668Val)
|
|
|
|
NM_001458.5(FLNC):c.8007G>A (p.Met2669Ile)
|
|
|
|
NM_001458.5(FLNC):c.8009T>C (p.Val2670Ala)
|
|
|
|
NM_001458.5(FLNC):c.8014G>A (p.Val2672Met)
|
|
|
|
NM_001458.5(FLNC):c.8019C>G (p.His2673Gln)
|
rs112180788
|
|
|
NM_001458.5(FLNC):c.8023C>T (p.Pro2675Ser)
|
rs1563006093
|
|
|
NM_001458.5(FLNC):c.8026A>G (p.Lys2676Glu)
|
|
|
|
NM_001458.5(FLNC):c.8033C>T (p.Pro2678Leu)
|
|
|
|
NM_001458.5(FLNC):c.8050G>A (p.Val2684Met)
|
|
|
|
NM_001458.5(FLNC):c.8051T>C (p.Val2684Ala)
|
rs1585173265
|
|
|
NM_001458.5(FLNC):c.8066A>T (p.Asn2689Ile)
|
|
|
|
NM_001458.5(FLNC):c.8069G>A (p.Arg2690Gln)
|
rs1585173273
|
|
|
NM_001458.5(FLNC):c.8078A>T (p.Asn2693Ile)
|
|
|
|
NM_001458.5(FLNC):c.8087A>G (p.Tyr2696Cys)
|
rs2128940675
|
|
|
NM_001458.5(FLNC):c.8098G>A (p.Glu2700Lys)
|
rs2128940691
|
|
|
NM_001458.5(FLNC):c.8103A>T (p.Lys2701Asn)
|
|
|
|
NM_001458.5(FLNC):c.8109C>G (p.Asp2703Glu)
|
rs1809164297
|
|
|
NM_001458.5(FLNC):c.8112C>A (p.Tyr2704Ter)
|
|
|
|
NM_001458.5(FLNC):c.8113A>C (p.Ile2705Leu)
|
rs1809164468
|
|
|
NM_001458.5(FLNC):c.8117T>C (p.Leu2706Pro)
|
rs2128940703
|
|
|
NM_001458.5(FLNC):c.8121T>G (p.Ile2707Met)
|
rs28437296
|
|
|
NM_001458.5(FLNC):c.8121_8122inv (p.Val2708Ile)
|
|
|
|
NM_001458.5(FLNC):c.8131G>A (p.Gly2711Ser)
|
rs1809165876
|
|
|
NM_001458.5(FLNC):c.8131G>T (p.Gly2711Cys)
|
rs1809165876
|
|
|
NM_001458.5(FLNC):c.8140dup (p.Ser2714fs)
|
rs1554402084
|
|
|
NM_001458.5(FLNC):c.8143G>T (p.Val2715Phe)
|
rs370832402
|
|
|
NM_001458.5(FLNC):c.8156C>T (p.Pro2719Leu)
|
rs1585173375
|
|
|
NM_001458.5(FLNC):c.8163A>T (p.Lys2721Asn)
|
rs2128940727
|
|
|
NM_001458.5(FLNC):c.8168A>T (p.Lys2723Met)
|
|
|
|
NM_001458.5(FLNC):c.8171T>C (p.Val2724Ala)
|
rs770027151
|
|
|
NM_001458.5(FLNC):c.8174C>G (p.Pro2725Arg)
|
rs2128940731
|
|
|
NM_001458.5(FLNC):c.8174C>T (p.Pro2725Leu)
|
rs2128940731
|
|
|
NM_001458.5(FLNC):c.8178A>G (p.Ter2726Trp)
|
rs1563006225
|
|
|
NM_001458.5(FLNC):c.824C>A (p.Pro275His)
|
rs1249075788
|
|
|
NM_001458.5(FLNC):c.835A>G (p.Ile279Val)
|
rs1243812099
|
|
|
NM_001458.5(FLNC):c.838G>A (p.Ala280Thr)
|
|
|
|
NM_001458.5(FLNC):c.849T>C (p.Pro283=)
|
|
|
|
NM_001458.5(FLNC):c.850+12C>T
|
|
|
|
NM_001458.5(FLNC):c.850+4T>C
|
rs368602593
|
|
|
NM_001458.5(FLNC):c.850+4T>G
|
rs368602593
|
|
|
NM_001458.5(FLNC):c.850+5G>A
|
rs2128934199
|
|
|
NM_001458.5(FLNC):c.853A>G (p.Ile285Val)
|
|
|
|
NM_001458.5(FLNC):c.856G>C (p.Glu286Gln)
|
rs1274480597
|
|
|
NM_001458.5(FLNC):c.860C>T (p.Pro287Leu)
|
|
|
|
NM_001458.5(FLNC):c.862C>A (p.Gln288Lys)
|
rs1808151858
|
|
|
NM_001458.5(FLNC):c.863A>G (p.Gln288Arg)
|
rs1808151950
|
|
|
NM_001458.5(FLNC):c.868A>G (p.Asn290Asp)
|
rs1329109141
|
|
|
NM_001458.5(FLNC):c.86C>T (p.Ala29Val)
|
rs2128932114
|
|
|
NM_001458.5(FLNC):c.874G>T (p.Val292Leu)
|
rs1275499234
|
|
|
NM_001458.5(FLNC):c.886G>A (p.Ala296Thr)
|
|
|
|
NM_001458.5(FLNC):c.887C>T (p.Ala296Val)
|
rs2128934235
|
|
|
NM_001458.5(FLNC):c.88G>A (p.Glu30Lys)
|
rs2128932116
|
|
|
NM_001458.5(FLNC):c.896_897delinsTT (p.Thr299Ile)
|
rs1562992080
|
|
|
NM_001458.5(FLNC):c.899T>G (p.Val300Gly)
|
rs2128934238
|
|
|
NM_001458.5(FLNC):c.904A>G (p.Thr302Ala)
|
rs1410531577
|
|
|
NM_001458.5(FLNC):c.907G>A (p.Val303Met)
|
rs1554397562
|
|
|
NM_001458.5(FLNC):c.913G>A (p.Ala305Thr)
|
rs1312282118
|
|
|
NM_001458.5(FLNC):c.914C>G (p.Ala305Gly)
|
rs966097091
|
|
|
NM_001458.5(FLNC):c.914C>T (p.Ala305Val)
|
|
|
|
NM_001458.5(FLNC):c.92A>T (p.Asp31Val)
|
|
|
|
NM_001458.5(FLNC):c.934G>A (p.Val312Ile)
|
rs2128934250
|
|
|
NM_001458.5(FLNC):c.935T>G (p.Val312Gly)
|
rs1808156535
|
|
|
NM_001458.5(FLNC):c.946G>C (p.Asp316His)
|
|
|
|
NM_001458.5(FLNC):c.949C>A (p.Pro317Thr)
|
rs1562992145
|
|
|
NM_001458.5(FLNC):c.953A>C (p.Glu318Ala)
|
rs2128934254
|
|
|
NM_001458.5(FLNC):c.95C>T (p.Ala32Val)
|
rs2128932120
|
|
|
NM_001458.5(FLNC):c.964G>A (p.Glu322Lys)
|
|
|
|
NM_001458.5(FLNC):c.967G>A (p.Glu323Lys)
|
rs1562992158
|
|
|
NM_001458.5(FLNC):c.970-5A>C
|
rs199755800
|
|
|
NM_001458.5(FLNC):c.970G>A (p.Ala324Thr)
|
|
|
|
NM_001458.5(FLNC):c.982C>T (p.Pro328Ser)
|
rs1808168813
|
|
|
NM_001458.5(FLNC):c.987C>A (p.Asn329Lys)
|
rs1808169217
|
|
|
NM_001458.5(FLNC):c.992A>G (p.Asp331Gly)
|
rs1808169515
|
|
|
NM_001927.4(DES):c.1000G>A (p.Glu334Lys)
|
rs1227068284
|
|
|
NM_001927.4(DES):c.1004T>C (p.Ile335Thr)
|
rs1954429245
|
|
|
NM_001927.4(DES):c.1009G>T (p.Ala337Ser)
|
rs59962885
|
|
|
NM_001927.4(DES):c.100G>A (p.Val34Met)
|
|
|
|
NM_001927.4(DES):c.1010C>A (p.Ala337Asp)
|
rs1954429477
|
|
|
NM_001927.4(DES):c.1017G>C (p.Lys339Asn)
|
rs1954429823
|
|
|
NM_001927.4(DES):c.1019G>A (p.Gly340Asp)
|
rs1559353118
|
|
|
NM_001927.4(DES):c.1022C>T (p.Thr341Ile)
|
rs1338606921
|
|
|
NM_001927.4(DES):c.1023+5G>A
|
|
|
|
NM_001927.4(DES):c.1023+6_1023+24dup
|
|
|
|
NM_001927.4(DES):c.1024-3C>A
|
rs1553603530
|
|
|
NM_001927.4(DES):c.1030T>C (p.Ser344Pro)
|
rs886044226
|
|
|
NM_001927.4(DES):c.103T>C (p.Phe35Leu)
|
|
|
|
NM_001927.4(DES):c.1043A>T (p.Gln348Leu)
|
rs1411703397
|
|
|
NM_001927.4(DES):c.1045A>G (p.Met349Val)
|
|
|
|
NM_001927.4(DES):c.1049G>T (p.Arg350Leu)
|
rs57965306
|
|
|
NM_001927.4(DES):c.104T>C (p.Phe35Ser)
|
rs1575012999
|
|
|
NM_001927.4(DES):c.105C>G (p.Phe35Leu)
|
rs768166041
|
|
|
NM_001927.4(DES):c.1063C>G (p.Arg355Gly)
|
rs762808690
|
|
|
NM_001927.4(DES):c.1064G>C (p.Arg355Pro)
|
rs61368398
|
|
|
NM_001927.4(DES):c.106C>T (p.Pro36Ser)
|
|
|
|
NM_001927.4(DES):c.1078G>T (p.Ala360Ser)
|
rs121913000
|
|
|
NM_001927.4(DES):c.1085G>A (p.Gly362Asp)
|
|
|
|
NM_001927.4(DES):c.1090C>A (p.Gln364Lys)
|
rs1224165687
|
|
|
NM_001927.4(DES):c.1092G>T (p.Gln364His)
|
|
|
|
NM_001927.4(DES):c.1093G>C (p.Asp365His)
|
|
|
|
NM_001927.4(DES):c.1094ACA[1] (p.Asn366del)
|
rs58687088
|
|
|
NM_001927.4(DES):c.1097A>G (p.Asn366Ser)
|
|
|
|
NM_001927.4(DES):c.1099A>G (p.Ile367Val)
|
rs62636494
|
|
|
NM_001927.4(DES):c.109C>G (p.Arg37Gly)
|
rs537881554
|
|
|
NM_001927.4(DES):c.1100T>C (p.Ile367Thr)
|
rs1480755998
|
|
|
NM_001927.4(DES):c.1103_1104delinsTA (p.Ala368Val)
|
rs2125168708
|
|
|
NM_001927.4(DES):c.1104_1105delinsAT (p.Arg369Cys)
|
rs2125168717
|
|
|
NM_001927.4(DES):c.1106G>A (p.Arg369His)
|
|
|
|
NM_001927.4(DES):c.1106G>T (p.Arg369Leu)
|
rs1168604493
|
|
|
NM_001927.4(DES):c.110G>T (p.Arg37Leu)
|
rs1954363342
|
|
|
NM_001927.4(DES):c.1110GGA[2] (p.Glu373del)
|
rs2125168730
|
|
|
NM_001927.4(DES):c.1118A>C (p.Glu373Ala)
|
|
|
|
NM_001927.4(DES):c.1119A>C (p.Glu373Asp)
|
rs780628142
|
|
|
NM_001927.4(DES):c.1124G>A (p.Arg375Gln)
|
|
|
|
NM_001927.4(DES):c.1126C>G (p.His376Asp)
|
|
|
|
NM_001927.4(DES):c.1133A>G (p.Lys378Arg)
|
rs202010947
|
|
|
NM_001927.4(DES):c.1144G>A (p.Ala382Thr)
|
rs1954441688
|
|
|
NM_001927.4(DES):c.1147C>A (p.Arg383Ser)
|
rs748945548
|
|
|
NM_001927.4(DES):c.1148G>C (p.Arg383Pro)
|
rs1292042317
|
|
|
NM_001927.4(DES):c.1151A>C (p.His384Pro)
|
|
|
|
NM_001927.4(DES):c.1153C>G (p.Leu385Val)
|
rs1393155504
|
|
|
NM_001927.4(DES):c.1158_1160del (p.Glu387del)
|
rs1559353314
|
|
|
NM_001927.4(DES):c.1159G>A (p.Glu387Lys)
|
rs865961434
|
|
|
NM_001927.4(DES):c.115G>A (p.Gly39Ser)
|
rs758434755
|
|
|
NM_001927.4(DES):c.1166A>G (p.Gln389Arg)
|
|
|
|
NM_001927.4(DES):c.1172T>C (p.Leu391Pro)
|
rs1954443135
|
|
|
NM_001927.4(DES):c.1172T>G (p.Leu391Arg)
|
rs1954443135
|
|
|
NM_001927.4(DES):c.1180G>T (p.Val394Leu)
|
rs776786349
|
|
|
NM_001927.4(DES):c.1187T>C (p.Met396Thr)
|
|
|
|
NM_001927.4(DES):c.1189G>A (p.Ala397Thr)
|
rs727502951
|
|
|
NM_001927.4(DES):c.1193T>C (p.Leu398Pro)
|
rs796115330
|
|
|
NM_001927.4(DES):c.1193del (p.Leu398fs)
|
rs2125168879
|
|
|
NM_001927.4(DES):c.11C>A (p.Ala4Asp)
|
|
|
|
NM_001927.4(DES):c.1205T>C (p.Ile402Thr)
|
rs1553603571
|
|
|
NM_001927.4(DES):c.1205T>G (p.Ile402Ser)
|
rs1553603571
|
|
|
NM_001927.4(DES):c.1208C>A (p.Ala403Asp)
|
|
|
|
NM_001927.4(DES):c.1218G>T (p.Arg406=)
|
|
|
|
NM_001927.4(DES):c.1219A>C (p.Lys407Gln)
|
rs1553603573
|
|
|
NM_001927.4(DES):c.1228G>A (p.Glu410Lys)
|
rs2125168940
|
|
|
NM_001927.4(DES):c.1236G>T (p.Glu412Asp)
|
|
|
|
NM_001927.4(DES):c.1238A>G (p.Glu413Gly)
|
rs1954445270
|
|
|
NM_001927.4(DES):c.1240A>G (p.Ser414Gly)
|
|
|
|
NM_001927.4(DES):c.1243C>G (p.Arg415Gly)
|
rs751942358
|
|
|
NM_001927.4(DES):c.1243del (p.Arg415fs)
|
rs1954445390
|
|
|
NM_001927.4(DES):c.1244G>A (p.Arg415Gln)
|
rs1262288015
|
|
|
NM_001927.4(DES):c.1245-3T>G
|
rs111427762
|
|
|
NM_001927.4(DES):c.1248C>G (p.Ile416Met)
|
|
|
|
NM_001927.4(DES):c.1255C>A (p.Pro419Thr)
|
rs62635763
|
|
|
NM_001927.4(DES):c.1259T>C (p.Ile420Thr)
|
|
|
|
NM_001927.4(DES):c.1262A>G (p.Gln421Arg)
|
rs756613339
|
|
|
NM_001927.4(DES):c.1273G>C (p.Ala425Pro)
|
|
|
|
NM_001927.4(DES):c.1279A>T (p.Asn427Tyr)
|
rs1954488237
|
|
|
NM_001927.4(DES):c.1285del (p.Arg429fs)
|
rs1954488513
|
|
|
NM_001927.4(DES):c.1286G>A (p.Arg429Gln)
|
rs200580581
|
|
|
NM_001927.4(DES):c.1288G>C (p.Glu430Gln)
|
rs1042793960
|
|
|
NM_001927.4(DES):c.1298C>T (p.Pro433Leu)
|
|
|
|
NM_001927.4(DES):c.1301A>G (p.Glu434Gly)
|
|
|
|
NM_001927.4(DES):c.1303C>A (p.Gln435Lys)
|
|
|
|
NM_001927.4(DES):c.1303C>G (p.Gln435Glu)
|
|
|
|
NM_001927.4(DES):c.130G>A (p.Gly44Ser)
|
rs1064794869
|
|
|
NM_001927.4(DES):c.1310G>A (p.Gly437Asp)
|
rs878854471
|
|
|
NM_001927.4(DES):c.1312T>G (p.Ser438Ala)
|
rs1553603818
|
|
|
NM_001927.4(DES):c.131G>T (p.Gly44Val)
|
rs1954364360
|
|
|
NM_001927.4(DES):c.1322A>C (p.His441Pro)
|
|
|
|
NM_001927.4(DES):c.1322A>T (p.His441Leu)
|
rs1064796937
|
|
|
NM_001927.4(DES):c.1323T>G (p.His441Gln)
|
rs751325263
|
|
|
NM_001927.4(DES):c.1324A>C (p.Thr442Pro)
|
rs794728995
|
|
|
NM_001927.4(DES):c.1334C>T (p.Thr445Met)
|
|
|
|
NM_001927.4(DES):c.1345_1353del (p.Lys449_Ile451del)
|
rs1064796352
|
|
|
NM_001927.4(DES):c.1348A>G (p.Thr450Ala)
|
|
|
|
NM_001927.4(DES):c.1349C>A (p.Thr450Asn)
|
|
|
|
NM_001927.4(DES):c.1349C>T (p.Thr450Ile)
|
|
|
|
NM_001927.4(DES):c.1353C>G (p.Ile451Met)
|
rs121913002
|
|
|
NM_001927.4(DES):c.1354G>A (p.Glu452Lys)
|
|
|
|
NM_001927.4(DES):c.1354_1358del (p.Glu452fs)
|
rs1060503171
|
|
|
NM_001927.4(DES):c.1358C>T (p.Thr453Ile)
|
rs267607488
|
|
|
NM_001927.4(DES):c.1363G>A (p.Asp455Asn)
|
|
|
|
NM_001927.4(DES):c.1364A>T (p.Asp455Val)
|
rs2125172066
|
|
|
NM_001927.4(DES):c.1366G>A (p.Gly456Arg)
|
rs397516690
|
|
|
NM_001927.4(DES):c.1371+1G>T
|
|
|
|
NM_001927.4(DES):c.1371+2dup
|
rs2125172078
|
|
|
NM_001927.4(DES):c.1372-2A>G
|
|
|
|
NM_001927.4(DES):c.1372-3C>T
|
|
|
|
NM_001927.4(DES):c.1379G>A (p.Ser460Asn)
|
|
|
|
NM_001927.4(DES):c.1385_1386delinsAG (p.Ala462Glu)
|
rs1060503170
|
|
|
NM_001927.4(DES):c.1388C>T (p.Thr463Ile)
|
|
|
|
NM_001927.4(DES):c.1390C>T (p.Gln464Ter)
|
rs2125172262
|
|
|
NM_001927.4(DES):c.1408C>T (p.Leu470Phe)
|
rs1060503172
|
|
|
NM_001927.4(DES):c.1409T>C (p.Leu470Pro)
|
rs1954528633
|
|
|
NM_001927.4(DES):c.140G>T (p.Ser47Ile)
|
rs2125165917
|
|
|
NM_001927.4(DES):c.1411T>C (p.Ter471Gln)
|
rs886044329
|
|
|
NM_001927.4(DES):c.154C>A (p.Arg52Ser)
|
rs794728990
|
|
|
NM_001927.4(DES):c.155G>A (p.Arg52His)
|
rs1372689272
|
|
|
NM_001927.4(DES):c.157G>A (p.Val53Met)
|
rs1393972560
|
|
|
NM_001927.4(DES):c.157G>T (p.Val53Leu)
|
rs1393972560
|
|
|
NM_001927.4(DES):c.164A>T (p.Gln55Leu)
|
|
|
|
NM_001927.4(DES):c.166G>T (p.Val56Leu)
|
|
|
|
NM_001927.4(DES):c.176C>T (p.Thr59Met)
|
rs773826073
|
|
|
NM_001927.4(DES):c.179C>T (p.Ser60Leu)
|
|
|
|
NM_001927.4(DES):c.17C>G (p.Ser6Trp)
|
rs1214936508
|
|
|
NM_001927.4(DES):c.17C>T (p.Ser6Leu)
|
rs1214936508
|
|
|
NM_001927.4(DES):c.182G>A (p.Gly61Asp)
|
rs1447436485
|
|
|
NM_001927.4(DES):c.188C>T (p.Ala63Val)
|
|
|
|
NM_001927.4(DES):c.204_205delinsAT (p.Ser68_Leu69=)
|
|
|
|
NM_001927.4(DES):c.206T>C (p.Leu69Pro)
|
|
|
|
NM_001927.4(DES):c.208C>T (p.Arg70Trp)
|
rs2125166022
|
|
|
NM_001927.4(DES):c.211G>T (p.Ala71Ser)
|
|
|
|
NM_001927.4(DES):c.218G>T (p.Arg73Leu)
|
rs752518966
|
|
|
NM_001927.4(DES):c.221T>A (p.Leu74Gln)
|
rs1164195329
|
|
|
NM_001927.4(DES):c.224G>A (p.Gly75Glu)
|
|
|
|
NM_001927.4(DES):c.22A>G (p.Ser8Gly)
|
|
|
|
NM_001927.4(DES):c.230C>T (p.Thr77Ile)
|
rs1392710887
|
|
|
NM_001927.4(DES):c.232C>T (p.Arg78Cys)
|
|
|
|
NM_001927.4(DES):c.235A>C (p.Thr79Pro)
|
|
|
|
NM_001927.4(DES):c.236C>T (p.Thr79Met)
|
|
|
|
NM_001927.4(DES):c.238C>T (p.Pro80Ser)
|
|
|
|
NM_001927.4(DES):c.239CCT[2] (p.Ser82del)
|
|
|
|
NM_001927.4(DES):c.244T>C (p.Ser82Pro)
|
|
|
|
NM_001927.4(DES):c.245C>T (p.Ser82Phe)
|
rs1358038961
|
|
|
NM_001927.4(DES):c.253G>A (p.Ala85Thr)
|
|
|
|
NM_001927.4(DES):c.254C>T (p.Ala85Val)
|
|
|
|
NM_001927.4(DES):c.261G>T (p.Glu87Asp)
|
|
|
|
NM_001927.4(DES):c.269A>C (p.Asp90Ala)
|
rs1954369708
|
|
|
NM_001927.4(DES):c.269A>T (p.Asp90Val)
|
rs1954369708
|
|
|
NM_001927.4(DES):c.275C>T (p.Ser92Leu)
|
rs1954369865
|
|
|
NM_001927.4(DES):c.278T>C (p.Leu93Pro)
|
|
|
|
NM_001927.4(DES):c.284A>T (p.Asp95Val)
|
rs1954370194
|
|
|
NM_001927.4(DES):c.287C>G (p.Ala96Gly)
|
|
|
|
NM_001927.4(DES):c.28C>A (p.Arg10Ser)
|
rs1196125127
|
|
|
NM_001927.4(DES):c.292A>T (p.Asn98Tyr)
|
|
|
|
NM_001927.4(DES):c.299A>G (p.Glu100Gly)
|
|
|
|
NM_001927.4(DES):c.310A>G (p.Thr104Ala)
|
rs1559352310
|
|
|
NM_001927.4(DES):c.311C>G (p.Thr104Arg)
|
rs980849177
|
|
|
NM_001927.4(DES):c.311C>T (p.Thr104Met)
|
rs980849177
|
|
|
NM_001927.4(DES):c.314G>T (p.Arg105Leu)
|
rs1406795636
|
|
|
NM_001927.4(DES):c.319A>G (p.Asn107Asp)
|
rs2125166213
|
|
|
NM_001927.4(DES):c.31G>A (p.Val11Met)
|
|
|
|
NM_001927.4(DES):c.31G>T (p.Val11Leu)
|
|
|
|
NM_001927.4(DES):c.320A>C (p.Asn107Thr)
|
rs1156440628
|
|
|
NM_001927.4(DES):c.321C>A (p.Asn107Lys)
|
|
|
|
NM_001927.4(DES):c.322G>A (p.Glu108Lys)
|
rs62636490
|
|
|
NM_001927.4(DES):c.323A>G (p.Glu108Gly)
|
rs1954371679
|
|
|
NM_001927.4(DES):c.325A>G (p.Lys109Glu)
|
rs1954371825
|
|
|
NM_001927.4(DES):c.326A>G (p.Lys109Arg)
|
rs1488426454
|
|
|
NM_001927.4(DES):c.32T>C (p.Val11Ala)
|
|
|
|
NM_001927.4(DES):c.335T>G (p.Leu112Arg)
|
rs1954372144
|
|
|
NM_001927.4(DES):c.341A>G (p.Glu114Gly)
|
rs2125166251
|
|
|
NM_001927.4(DES):c.343C>T (p.Leu115Phe)
|
|
|
|
NM_001927.4(DES):c.344T>C (p.Leu115Pro)
|
rs2125166259
|
|
|
NM_001927.4(DES):c.349G>C (p.Asp117His)
|
rs1954372615
|
|
|
NM_001927.4(DES):c.352C>A (p.Arg118Ser)
|
rs1188232371
|
|
|
NM_001927.4(DES):c.358G>C (p.Ala120Pro)
|
rs794728996
|
|
|
NM_001927.4(DES):c.359C>A (p.Ala120Asp)
|
rs1954373010
|
|
|
NM_001927.4(DES):c.359C>G (p.Ala120Gly)
|
|
|
|
NM_001927.4(DES):c.361A>C (p.Asn121His)
|
rs1954373113
|
|
|
NM_001927.4(DES):c.365A>G (p.Tyr122Cys)
|
rs1400593451
|
|
|
NM_001927.4(DES):c.368T>G (p.Ile123Ser)
|
|
|
|
NM_001927.4(DES):c.371A>C (p.Glu124Ala)
|
rs564121737
|
|
|
NM_001927.4(DES):c.376G>T (p.Val126Leu)
|
rs876657770
|
|
|
NM_001927.4(DES):c.379C>G (p.Arg127Gly)
|
rs868157645
|
|
|
NM_001927.4(DES):c.379C>T (p.Arg127Cys)
|
|
|
|
NM_001927.4(DES):c.37T>C (p.Ser13Pro)
|
rs1954359599
|
|
|
NM_001927.4(DES):c.380G>C (p.Arg127Pro)
|
rs397516694
|
|
|
NM_001927.4(DES):c.386T>G (p.Leu129Arg)
|
rs1954374163
|
|
|
NM_001927.4(DES):c.38C>A (p.Ser13Tyr)
|
rs62636495
|
|
|
NM_001927.4(DES):c.401C>A (p.Ala134Glu)
|
|
|
|
NM_001927.4(DES):c.404C>G (p.Ala135Gly)
|
rs546741834
|
|
|
NM_001927.4(DES):c.406C>G (p.Leu136Val)
|
rs1175707667
|
|
|
NM_001927.4(DES):c.409G>A (p.Ala137Thr)
|
|
|
|
NM_001927.4(DES):c.410C>A (p.Ala137Asp)
|
rs775115627
|
|
|
NM_001927.4(DES):c.415G>A (p.Glu139Lys)
|
rs763769862
|
|
|
NM_001927.4(DES):c.418G>A (p.Val140Met)
|
rs1377068684
|
|
|
NM_001927.4(DES):c.418G>C (p.Val140Leu)
|
rs1377068684
|
|
|
NM_001927.4(DES):c.425G>C (p.Arg142Pro)
|
|
|
|
NM_001927.4(DES):c.427C>G (p.Leu143Val)
|
rs1954376231
|
|
|
NM_001927.4(DES):c.428T>G (p.Leu143Arg)
|
|
|
|
NM_001927.4(DES):c.434G>A (p.Gly145Asp)
|
rs1553603267
|
|
|
NM_001927.4(DES):c.436C>G (p.Arg146Gly)
|
|
|
|
NM_001927.4(DES):c.439G>C (p.Glu147Gln)
|
|
|
|
NM_001927.4(DES):c.43C>A (p.Arg15Ser)
|
rs756390565
|
|
|
NM_001927.4(DES):c.43C>G (p.Arg15Gly)
|
|
|
|
NM_001927.4(DES):c.43C>T (p.Arg15Cys)
|
rs756390565
|
|
|
NM_001927.4(DES):c.449G>A (p.Arg150Gln)
|
rs876661344
|
|
|
NM_001927.4(DES):c.458A>G (p.Glu153Gly)
|
|
|
|
NM_001927.4(DES):c.459G>C (p.Glu153Asp)
|
|
|
|
NM_001927.4(DES):c.466G>A (p.Glu156Lys)
|
rs765471098
|
|
|
NM_001927.4(DES):c.466G>C (p.Glu156Gln)
|
rs765471098
|
|
|
NM_001927.4(DES):c.466GAG[2] (p.Glu158del)
|
|
|
|
NM_001927.4(DES):c.467A>T (p.Glu156Val)
|
rs2125166482
|
|
|
NM_001927.4(DES):c.46C>A (p.Arg16Ser)
|
rs60798368
|
|
|
NM_001927.4(DES):c.472GAGCTGCGG[3] (p.Arg163_Arg164insGluLeuArg)
|
|
|
|
NM_001927.4(DES):c.473A>T (p.Glu158Val)
|
rs1085307571
|
|
|
NM_001927.4(DES):c.482A>G (p.Glu161Gly)
|
|
|
|
NM_001927.4(DES):c.482_490dup (p.Arg163_Arg164insGlnLeuArg)
|
|
|
|
NM_001927.4(DES):c.488G>A (p.Arg163Gln)
|
rs1457012198
|
|
|
NM_001927.4(DES):c.488_505dup (p.Arg163_Val168dup)
|
rs1954378812
|
|
|
NM_001927.4(DES):c.49A>C (p.Thr17Pro)
|
|
|
|
NM_001927.4(DES):c.500A>T (p.Glu167Val)
|
|
|
|
NM_001927.4(DES):c.501G>T (p.Glu167Asp)
|
rs1277110592
|
|
|
NM_001927.4(DES):c.50C>A (p.Thr17Asn)
|
rs1954360300
|
|
|
NM_001927.4(DES):c.512A>C (p.Asn171Thr)
|
|
|
|
NM_001927.4(DES):c.515A>C (p.Gln172Pro)
|
rs2125166557
|
|
|
NM_001927.4(DES):c.517C>G (p.Arg173Gly)
|
|
|
|
NM_001927.4(DES):c.518G>A (p.Arg173His)
|
|
|
|
NM_001927.4(DES):c.520G>A (p.Ala174Thr)
|
|
|
|
NM_001927.4(DES):c.529G>A (p.Asp177Asn)
|
rs1057524813
|
|
|
NM_001927.4(DES):c.536A>T (p.Glu179Val)
|
|
|
|
NM_001927.4(DES):c.537_554del (p.Glu179_Leu184del)
|
|
|
|
NM_001927.4(DES):c.541G>C (p.Asp181His)
|
rs1297244198
|
|
|
NM_001927.4(DES):c.543C>G (p.Asp181Glu)
|
|
|
|
NM_001927.4(DES):c.544_555del (p.Asn182_Asp185del)
|
rs1954382461
|
|
|
NM_001927.4(DES):c.544_558del (p.Asn182_Asp186del)
|
|
|
|
NM_001927.4(DES):c.553G>A (p.Asp185Asn)
|
|
|
|
NM_001927.4(DES):c.554A>T (p.Asp185Val)
|
|
|
|
NM_001927.4(DES):c.556G>A (p.Asp186Asn)
|
|
|
|
NM_001927.4(DES):c.556G>C (p.Asp186His)
|
|
|
|
NM_001927.4(DES):c.556G>T (p.Asp186Tyr)
|
rs878854473
|
|
|
NM_001927.4(DES):c.558C>G (p.Asp186Glu)
|
rs1575013561
|
|
|
NM_001927.4(DES):c.55G>C (p.Gly19Arg)
|
rs936853024
|
|
|
NM_001927.4(DES):c.560T>C (p.Leu187Pro)
|
rs1248833348
|
|
|
NM_001927.4(DES):c.564G>T (p.Gln188His)
|
|
|
|
NM_001927.4(DES):c.571A>G (p.Lys191Glu)
|
rs1483093429
|
|
|
NM_001927.4(DES):c.575C>T (p.Ala192Val)
|
rs889191100
|
|
|
NM_001927.4(DES):c.586GAG[1] (p.Glu197del)
|
rs1954405702
|
|
|
NM_001927.4(DES):c.59G>A (p.Gly20Glu)
|
rs2125165738
|
|
|
NM_001927.4(DES):c.602A>G (p.Lys201Arg)
|
|
|
|
NM_001927.4(DES):c.607G>A (p.Glu203Lys)
|
rs2125167376
|
|
|
NM_001927.4(DES):c.610G>A (p.Ala204Thr)
|
rs1575014034
|
|
|
NM_001927.4(DES):c.610G>T (p.Ala204Ser)
|
rs1575014034
|
|
|
NM_001927.4(DES):c.618C>A (p.Asn206Lys)
|
|
|
|
NM_001927.4(DES):c.61G>A (p.Ala21Thr)
|
|
|
|
NM_001927.4(DES):c.623T>C (p.Leu208Ser)
|
rs373062962
|
|
|
NM_001927.4(DES):c.623T>G (p.Leu208Trp)
|
|
|
|
NM_001927.4(DES):c.629C>T (p.Ala210Val)
|
rs1060503169
|
|
|
NM_001927.4(DES):c.62C>A (p.Ala21Asp)
|
rs755107287
|
|
|
NM_001927.4(DES):c.639+4A>G
|
|
|
|
NM_001927.4(DES):c.639+5G>A
|
|
|
|
NM_001927.4(DES):c.640-2A>G
|
rs267607492
|
|
|
NM_001927.4(DES):c.640-3C>T
|
|
|
|
NM_001927.4(DES):c.643G>C (p.Val215Leu)
|
|
|
|
NM_001927.4(DES):c.650C>T (p.Ala217Val)
|
|
|
|
NM_001927.4(DES):c.669_670delinsCC (p.Asp224His)
|
rs1954411290
|
|
|
NM_001927.4(DES):c.680G>T (p.Arg227Leu)
|
rs141486420
|
|
|
NM_001927.4(DES):c.683G>T (p.Arg228Ile)
|
|
|
|
NM_001927.4(DES):c.68G>A (p.Gly23Asp)
|
|
|
|
NM_001927.4(DES):c.68G>C (p.Gly23Ala)
|
|
|
|
NM_001927.4(DES):c.694C>G (p.Leu232Val)
|
|
|
|
NM_001927.4(DES):c.700G>A (p.Glu234Lys)
|
rs774739275
|
|
|
NM_001927.4(DES):c.702G>A (p.Glu234=)
|
|
|
|
NM_001927.4(DES):c.709G>A (p.Ala237Thr)
|
rs397516697
|
|
|
NM_001927.4(DES):c.709G>T (p.Ala237Ser)
|
rs397516697
|
|
|
NM_001927.4(DES):c.715C>T (p.Leu239Phe)
|
|
|
|
NM_001927.4(DES):c.717_725del (p.Lys240_Val242del)
|
|
|
|
NM_001927.4(DES):c.718A>G (p.Lys240Glu)
|
rs1954413354
|
|
|
NM_001927.4(DES):c.722_724del (p.Lys241_Val242delinsMet)
|
|
|
|
NM_001927.4(DES):c.725T>A (p.Val242Glu)
|
rs794728984
|
|
|
NM_001927.4(DES):c.734A>G (p.Glu245Gly)
|
rs1575014243
|
|
|
NM_001927.4(DES):c.735+3A>T
|
rs267607483
|
|
|
NM_001927.4(DES):c.735+6C>A
|
|
|
|
NM_001927.4(DES):c.735+6C>T
|
rs1302528006
|
|
|
NM_001927.4(DES):c.735G>A (p.Glu245=)
|
rs267607486
|
|
|
NM_001927.4(DES):c.735_735+3dup
|
rs1954413969
|
|
|
NM_001927.4(DES):c.736-3C>A
|
|
|
|
NM_001927.4(DES):c.736G>A (p.Glu246Lys)
|
|
|
|
NM_001927.4(DES):c.738G>C (p.Glu246Asp)
|
rs1954417703
|
|
|
NM_001927.4(DES):c.73C>G (p.Pro25Ala)
|
|
|
|
NM_001927.4(DES):c.742C>A (p.Arg248Ser)
|
|
|
|
NM_001927.4(DES):c.742C>T (p.Arg248Cys)
|
rs772117708
|
|
|
NM_001927.4(DES):c.743G>A (p.Arg248His)
|
rs375906682
|
|
|
NM_001927.4(DES):c.743G>T (p.Arg248Leu)
|
|
|
|
NM_001927.4(DES):c.74_75insGCTCGGCTCCCC (p.Gly27_Leu30dup)
|
rs1287075970
|
|
|
NM_001927.4(DES):c.74_75inv (p.Pro25Leu)
|
|
|
|
NM_001927.4(DES):c.760C>T (p.Leu254Phe)
|
|
|
|
NM_001927.4(DES):c.761T>G (p.Leu254Arg)
|
rs1559352926
|
|
|
NM_001927.4(DES):c.767A>G (p.Glu256Gly)
|
rs1553603440
|
|
|
NM_001927.4(DES):c.770A>G (p.Gln257Arg)
|
rs1954418582
|
|
|
NM_001927.4(DES):c.775G>A (p.Val259Ile)
|
|
|
|
NM_001927.4(DES):c.77T>A (p.Leu26His)
|
rs1064796529
|
|
|
NM_001927.4(DES):c.790G>A (p.Asp264Asn)
|
|
|
|
NM_001927.4(DES):c.793A>G (p.Met265Val)
|
|
|
|
NM_001927.4(DES):c.796T>C (p.Ser266Pro)
|
rs1342331264
|
|
|
NM_001927.4(DES):c.79G>C (p.Gly27Arg)
|
rs727504877
|
|
|
NM_001927.4(DES):c.802C>G (p.Pro268Ala)
|
rs1434613160
|
|
|
NM_001927.4(DES):c.80G>A (p.Gly27Asp)
|
rs1575012966
|
|
|
NM_001927.4(DES):c.811A>T (p.Thr271Ser)
|
rs2125167886
|
|
|
NM_001927.4(DES):c.817G>T (p.Ala273Ser)
|
rs770258461
|
|
|
NM_001927.4(DES):c.823A>C (p.Arg275=)
|
|
|
|
NM_001927.4(DES):c.823A>G (p.Arg275Gly)
|
rs994389035
|
|
|
NM_001927.4(DES):c.825G>A (p.Arg275=)
|
|
|
|
NM_001927.4(DES):c.826G>A (p.Asp276Asn)
|
rs1436186019
|
|
|
NM_001927.4(DES):c.829_831del (p.Ile277del)
|
|
|
|
NM_001927.4(DES):c.830T>A (p.Ile277Asn)
|
rs1459036752
|
|
|
NM_001927.4(DES):c.832C>T (p.Arg278Trp)
|
rs794728985
|
|
|
NM_001927.4(DES):c.833G>A (p.Arg278Gln)
|
|
|
|
NM_001927.4(DES):c.833G>C (p.Arg278Pro)
|
rs761475402
|
|
|
NM_001927.4(DES):c.839A>G (p.Gln280Arg)
|
rs750160975
|
|
|
NM_001927.4(DES):c.840G>C (p.Gln280His)
|
rs1954420895
|
|
|
NM_001927.4(DES):c.844G>A (p.Glu282Lys)
|
|
|
|
NM_001927.4(DES):c.845A>G (p.Glu282Gly)
|
|
|
|
NM_001927.4(DES):c.854C>G (p.Ala285Gly)
|
|
|
|
NM_001927.4(DES):c.869C>A (p.Ser290Tyr)
|
rs981782522
|
|
|
NM_001927.4(DES):c.869C>G (p.Ser290Cys)
|
|
|
|
NM_001927.4(DES):c.86C>G (p.Pro29Arg)
|
|
|
|
NM_001927.4(DES):c.86C>T (p.Pro29Leu)
|
rs1378987625
|
|
|
NM_001927.4(DES):c.871G>A (p.Glu291Lys)
|
|
|
|
NM_001927.4(DES):c.886T>C (p.Tyr296His)
|
rs2125167990
|
|
|
NM_001927.4(DES):c.897+13_897+14delinsCT
|
|
|
|
NM_001927.4(DES):c.897+6T>G
|
rs1954422546
|
|
|
NM_001927.4(DES):c.898G>A (p.Val300Met)
|
rs2125168133
|
|
|
NM_001927.4(DES):c.8A>G (p.Gln3Arg)
|
rs1954358286
|
|
|
NM_001927.4(DES):c.904G>C (p.Asp302His)
|
|
|
|
NM_001927.4(DES):c.906C>A (p.Asp302Glu)
|
rs1224203630
|
|
|
NM_001927.4(DES):c.919G>T (p.Ala307Ser)
|
|
|
|
NM_001927.4(DES):c.921CAA[1] (p.Asn308del)
|
|
|
|
NM_001927.4(DES):c.931A>G (p.Asn311Asp)
|
|
|
|
NM_001927.4(DES):c.936C>A (p.Asp312Glu)
|
|
|
|
NM_001927.4(DES):c.93T>G (p.Ser31Arg)
|
rs2017800
|
|
|
NM_001927.4(DES):c.944G>A (p.Arg315His)
|
rs771455648
|
|
|
NM_001927.4(DES):c.944G>T (p.Arg315Leu)
|
|
|
|
NM_001927.4(DES):c.961A>G (p.Met321Val)
|
rs1954427673
|
|
|
NM_001927.4(DES):c.962T>A (p.Met321Lys)
|
|
|
|
NM_001927.4(DES):c.962T>C (p.Met321Thr)
|
rs760197212
|
|
|
NM_001927.4(DES):c.977A>G (p.His326Arg)
|
rs2125168243
|
|
|
NM_001927.4(DES):c.986A>C (p.Gln329Pro)
|
rs1060503168
|
|
|
NM_001927.4(DES):c.986A>G (p.Gln329Arg)
|
|
|
|
NM_001927.4(DES):c.991T>A (p.Tyr331Asn)
|
rs1064795298
|
|
|
NM_001927.4(DES):c.992A>C (p.Tyr331Ser)
|
rs1954428602
|
|
|
NM_001927.4(DES):c.995C>A (p.Thr332Asn)
|
|
|
|
NM_001927.4(DES):c.995C>T (p.Thr332Ile)
|
rs368453327
|
|
|
NM_001927.4(DES):c.997T>C (p.Cys333Arg)
|
|
|
|
NM_001927.4(DES):c.999C>T (p.Cys333=)
|
rs1157722667
|
|
|
NM_001943.5(DSG2):c.1006C>T (p.Leu336Phe)
|
rs1060502864
|
|
|
NM_001943.5(DSG2):c.1013A>G (p.Lys338Arg)
|
|
|
|
NM_001943.5(DSG2):c.1015G>A (p.Glu339Lys)
|
|
|
|
NM_001943.5(DSG2):c.1018G>T (p.Val340Leu)
|
rs1369312425
|
|
|
NM_001943.5(DSG2):c.1034T>A (p.Met345Lys)
|
rs2144332528
|
|
|
NM_001943.5(DSG2):c.1035GAA[1] (p.Lys346del)
|
rs727502987
|
|
|
NM_001943.5(DSG2):c.1063G>T (p.Ala355Ser)
|
rs201046640
|
|
|
NM_001943.5(DSG2):c.1066A>C (p.Asn356His)
|
|
|
|
NM_001943.5(DSG2):c.1088C>T (p.Ser363Leu)
|
rs751527714
|
|
|
NM_001943.5(DSG2):c.1090A>G (p.Ile364Val)
|
rs780014639
|
|
|
NM_001943.5(DSG2):c.1098T>G (p.Ser366Arg)
|
|
|
|
NM_001943.5(DSG2):c.10A>C (p.Ser4Arg)
|
|
|
|
NM_001943.5(DSG2):c.10A>G (p.Ser4Gly)
|
rs1415117974
|
|
|
NM_001943.5(DSG2):c.1100A>G (p.Lys367Arg)
|
rs1057518504
|
|
|
NM_001943.5(DSG2):c.1101A>G (p.Lys367=)
|
|
|
|
NM_001943.5(DSG2):c.1128G>T (p.Lys376Asn)
|
rs760119108
|
|
|
NM_001943.5(DSG2):c.1129G>A (p.Val377Ile)
|
|
|
|
NM_001943.5(DSG2):c.1130T>A (p.Val377Asp)
|
rs794728085
|
|
|
NM_001943.5(DSG2):c.1132A>C (p.Lys378Gln)
|
|
|
|
NM_001943.5(DSG2):c.1132A>G (p.Lys378Glu)
|
|
|
|
NM_001943.5(DSG2):c.1154G>A (p.Gly385Asp)
|
rs727504748
|
|
|
NM_001943.5(DSG2):c.1166A>T (p.Lys389Ile)
|
|
|
|
NM_001943.5(DSG2):c.1173C>A (p.Ser391Arg)
|
rs763242004
|
|
|
NM_001943.5(DSG2):c.1205A>G (p.Asp402Gly)
|
|
|
|
NM_001943.5(DSG2):c.1219G>A (p.Gly407Ser)
|
|
|
|
NM_001943.5(DSG2):c.1220G>C (p.Gly407Ala)
|
|
|
|
NM_001943.5(DSG2):c.1229T>C (p.Ile410Thr)
|
|
|
|
NM_001943.5(DSG2):c.1252G>A (p.Glu418Lys)
|
|
|
|
NM_001943.5(DSG2):c.1255G>A (p.Asp419Asn)
|
|
|
|
NM_001943.5(DSG2):c.1256A>G (p.Asp419Gly)
|
rs760135423
|
|
|
NM_001943.5(DSG2):c.1256A>T (p.Asp419Val)
|
rs760135423
|
|
|
NM_001943.5(DSG2):c.125C>T (p.Pro42Leu)
|
|
|
|
NM_001943.5(DSG2):c.1274A>C (p.His425Pro)
|
rs746180213
|
|
|
NM_001943.5(DSG2):c.1274A>G (p.His425Arg)
|
rs746180213
|
|
|
NM_001943.5(DSG2):c.1277C>T (p.Ala426Val)
|
rs1555627137
|
|
|
NM_001943.5(DSG2):c.127C>T (p.His43Tyr)
|
|
|
|
NM_001943.5(DSG2):c.1297G>A (p.Asp433Asn)
|
rs938919152
|
|
|
NM_001943.5(DSG2):c.1297G>T (p.Asp433Tyr)
|
rs938919152
|
|
|
NM_001943.5(DSG2):c.130T>G (p.Leu44Val)
|
|
|
|
NM_001943.5(DSG2):c.1316C>G (p.Ser439Cys)
|
rs2073222283
|
|
|
NM_001943.5(DSG2):c.1342A>G (p.Lys448Glu)
|
rs2073222488
|
|
|
NM_001943.5(DSG2):c.1349C>T (p.Ala450Val)
|
|
|
|
NM_001943.5(DSG2):c.1355T>G (p.Leu452Arg)
|
rs763810935
|
|
|
NM_001943.5(DSG2):c.1359T>G (p.Pro453=)
|
|
|
|
NM_001943.5(DSG2):c.1361_1387del (p.Asp454_Asn462del)
|
rs2073222763
|
|
|
NM_001943.5(DSG2):c.1368A>G (p.Glu456=)
|
|
|
|
NM_001943.5(DSG2):c.1373G>T (p.Arg458Ile)
|
rs2144339865
|
|
|
NM_001943.5(DSG2):c.1374_1388del (p.Arg458_Gly463delinsSer)
|
rs2073222954
|
|
|
NM_001943.5(DSG2):c.1397C>G (p.Thr466Ser)
|
rs769137357
|
|
|
NM_001943.5(DSG2):c.1399G>A (p.Val467Ile)
|
rs727504533
|
|
|
NM_001943.5(DSG2):c.13C>G (p.Pro5Ala)
|
|
|
|
NM_001943.5(DSG2):c.1409T>C (p.Val470Ala)
|
|
|
|
NM_001943.5(DSG2):c.1411G>A (p.Ala471Thr)
|
|
|
|
NM_001943.5(DSG2):c.1423+5del
|
|
|
|
NM_001943.5(DSG2):c.1423G>C (p.Asp475His)
|
|
|
|
NM_001943.5(DSG2):c.1423G>T (p.Asp475Tyr)
|
|
|
|
NM_001943.5(DSG2):c.1429C>A (p.Pro477Thr)
|
|
|
|
NM_001943.5(DSG2):c.1435A>G (p.Lys479Glu)
|
rs779432999
|
|
|
NM_001943.5(DSG2):c.1447G>A (p.Gly483Ser)
|
rs886053714
|
|
|
NM_001943.5(DSG2):c.1448G>A (p.Gly483Asp)
|
rs2144341363
|
|
|
NM_001943.5(DSG2):c.145C>A (p.Arg49Ser)
|
rs762526848
|
|
|
NM_001943.5(DSG2):c.1460T>C (p.Ile487Thr)
|
rs776525113
|
|
|
NM_001943.5(DSG2):c.1463A>G (p.Asn488Ser)
|
rs794728078
|
|
|
NM_001943.5(DSG2):c.1477A>G (p.Asn493Asp)
|
rs2144341490
|
|
|
NM_001943.5(DSG2):c.1477_1479del (p.Asn493del)
|
rs2073229597
|
|
|
NM_001943.5(DSG2):c.1482C>G (p.Asp494Glu)
|
|
|
|
NM_001943.5(DSG2):c.1487G>A (p.Cys496Tyr)
|
rs1346150383
|
|
|
NM_001943.5(DSG2):c.1489C>G (p.Pro497Ala)
|
|
|
|
NM_001943.5(DSG2):c.148G>C (p.Ala50Pro)
|
|
|
|
NM_001943.5(DSG2):c.148G>T (p.Ala50Ser)
|
rs1267795586
|
|
|
NM_001943.5(DSG2):c.1499T>G (p.Ile500Arg)
|
rs769741655
|
|
|
NM_001943.5(DSG2):c.14C>T (p.Pro5Leu)
|
rs530517936
|
|
|
NM_001943.5(DSG2):c.1501G>C (p.Glu501Gln)
|
rs1567930737
|
|
|
NM_001943.5(DSG2):c.151T>C (p.Trp51Arg)
|
rs1064794367
|
|
|
NM_001943.5(DSG2):c.1524C>A (p.His508Gln)
|
rs560004953
|
|
|
NM_001943.5(DSG2):c.1527T>A (p.Asp509Glu)
|
|
|
|
NM_001943.5(DSG2):c.152G>T (p.Trp51Leu)
|
rs397516702
|
|
|
NM_001943.5(DSG2):c.1532A>G (p.Glu511Gly)
|
rs1416039056
|
|
|
NM_001943.5(DSG2):c.1533G>C (p.Glu511Asp)
|
|
|
|
NM_001943.5(DSG2):c.1540A>G (p.Asn514Asp)
|
rs1598819735
|
|
|
NM_001943.5(DSG2):c.1541A>C (p.Asn514Thr)
|
|
|
|
NM_001943.5(DSG2):c.1541A>T (p.Asn514Ile)
|
rs986617814
|
|
|
NM_001943.5(DSG2):c.1543G>T (p.Val515Phe)
|
|
|
|
NM_001943.5(DSG2):c.1549G>A (p.Ala517Thr)
|
|
|
|
NM_001943.5(DSG2):c.1549G>T (p.Ala517Ser)
|
rs1299327345
|
|
|
NM_001943.5(DSG2):c.154A>T (p.Ile52Phe)
|
|
|
|
NM_001943.5(DSG2):c.1555G>C (p.Asp519His)
|
rs778119035
|
|
|
NM_001943.5(DSG2):c.1561G>A (p.Asp521Asn)
|
rs2144341791
|
|
|
NM_001943.5(DSG2):c.1569C>G (p.His523Gln)
|
|
|
|
NM_001943.5(DSG2):c.1577G>A (p.Ser526Asn)
|
rs771083574
|
|
|
NM_001943.5(DSG2):c.158C>G (p.Thr53Ser)
|
rs1456845187
|
|
|
NM_001943.5(DSG2):c.1601T>C (p.Ile534Thr)
|
rs2144341885
|
|
|
NM_001943.5(DSG2):c.1605C>A (p.Asp535Glu)
|
rs368718022
|
|
|
NM_001943.5(DSG2):c.1610C>A (p.Pro537Gln)
|
rs1598819817
|
|
|
NM_001943.5(DSG2):c.1613C>T (p.Pro538Leu)
|
|
|
|
NM_001943.5(DSG2):c.1618A>G (p.Met540Val)
|
|
|
|
NM_001943.5(DSG2):c.1630T>G (p.Trp544Gly)
|
|
|
|
NM_001943.5(DSG2):c.1639G>A (p.Ala547Thr)
|
|
|
|
NM_001943.5(DSG2):c.1642C>G (p.Arg548Gly)
|
|
|
|
NM_001943.5(DSG2):c.1643G>T (p.Arg548Leu)
|
rs551034751
|
|
|
NM_001943.5(DSG2):c.1649A>G (p.Glu550Gly)
|
rs2144342065
|
|
|
NM_001943.5(DSG2):c.1651A>G (p.Ser551Gly)
|
|
|
|
NM_001943.5(DSG2):c.1652-2dup
|
|
|
|
NM_001943.5(DSG2):c.1658G>T (p.Ser553Ile)
|
rs1567931587
|
|
|
NM_001943.5(DSG2):c.1670A>G (p.Gln557Arg)
|
|
|
|
NM_001943.5(DSG2):c.1674A>C (p.Gln558His)
|
rs1019401099
|
|
|
NM_001943.5(DSG2):c.1676G>A (p.Ser559Asn)
|
|
|
|
NM_001943.5(DSG2):c.1676G>C (p.Ser559Thr)
|
rs1254841751
|
|
|
NM_001943.5(DSG2):c.1680G>T (p.Glu560Asp)
|
rs2073247614
|
|
|
NM_001943.5(DSG2):c.1688T>C (p.Leu563Pro)
|
|
|
|
NM_001943.5(DSG2):c.1696A>C (p.Ser566Arg)
|
rs2144346505
|
|
|
NM_001943.5(DSG2):c.1698T>A (p.Ser566Arg)
|
|
|
|
NM_001943.5(DSG2):c.1707G>C (p.Gln569His)
|
rs370097438
|
|
|
NM_001943.5(DSG2):c.170C>T (p.Ala57Val)
|
rs756635006
|
|
|
NM_001943.5(DSG2):c.1722C>A (p.Asp574Glu)
|
rs2073247879
|
|
|
NM_001943.5(DSG2):c.1729G>C (p.Gly577Arg)
|
|
|
|
NM_001943.5(DSG2):c.172C>G (p.Leu58Val)
|
rs780300040
|
|
|
NM_001943.5(DSG2):c.172C>T (p.Leu58Phe)
|
|
|
|
NM_001943.5(DSG2):c.1730G>C (p.Gly577Ala)
|
rs1567931644
|
|
|
NM_001943.5(DSG2):c.1744G>A (p.Glu582Lys)
|
|
|
|
NM_001943.5(DSG2):c.1752_1784del (p.Gln584_Leu594del)
|
rs1333431543
|
|
|
NM_001943.5(DSG2):c.1760C>A (p.Thr587Lys)
|
|
|
|
NM_001943.5(DSG2):c.1762C>G (p.Leu588Val)
|
rs1278145047
|
|
|
NM_001943.5(DSG2):c.1768G>A (p.Val590Ile)
|
|
|
|
NM_001943.5(DSG2):c.1768G>C (p.Val590Leu)
|
rs2073248446
|
|
|
NM_001943.5(DSG2):c.1786G>A (p.Gly596Ser)
|
|
|
|
NM_001943.5(DSG2):c.1791C>A (p.Ser597Arg)
|
|
|
|
NM_001943.5(DSG2):c.1793G>C (p.Gly598Ala)
|
rs1598821488
|
|
|
NM_001943.5(DSG2):c.1795T>C (p.Cys599Arg)
|
rs762413624
|
|
|
NM_001943.5(DSG2):c.1796G>T (p.Cys599Phe)
|
|
|
|
NM_001943.5(DSG2):c.1801G>A (p.Glu601Lys)
|
rs1598821506
|
|
|
NM_001943.5(DSG2):c.1811A>G (p.His604Arg)
|
rs1359949181
|
|
|
NM_001943.5(DSG2):c.1820A>T (p.Tyr607Phe)
|
rs766843045
|
|
|
NM_001943.5(DSG2):c.1825G>C (p.Gly609Arg)
|
rs2144346907
|
|
|
NM_001943.5(DSG2):c.1846G>A (p.Ala616Thr)
|
|
|
|
NM_001943.5(DSG2):c.1878A>T (p.Leu626=)
|
|
|
|
NM_001943.5(DSG2):c.1880-17A>G
|
rs1295022734
|
|
|
NM_001943.5(DSG2):c.1881G>A (p.Leu627=)
|
|
|
|
NM_001943.5(DSG2):c.188A>T (p.Asp63Val)
|
|
|
|
NM_001943.5(DSG2):c.1933A>T (p.Thr645Ser)
|
rs1229669407
|
|
|
NM_001943.5(DSG2):c.1952T>C (p.Ile651Thr)
|
rs766353242
|
|
|
NM_001943.5(DSG2):c.1952T>G (p.Ile651Arg)
|
rs766353242
|
|
|
NM_001943.5(DSG2):c.1959G>A (p.Met653Ile)
|
rs794728088
|
|
|
NM_001943.5(DSG2):c.1964A>T (p.His655Leu)
|
|
|
|
NM_001943.5(DSG2):c.196A>C (p.Lys66Gln)
|
|
|
|
NM_001943.5(DSG2):c.1973A>C (p.Asn658Thr)
|
|
|
|
NM_001943.5(DSG2):c.1988C>T (p.Pro663Leu)
|
rs893262083
|
|
|
NM_001943.5(DSG2):c.2000A>G (p.Lys667Arg)
|
rs2144350910
|
|
|
NM_001943.5(DSG2):c.2001+3C>T
|
|
|
|
NM_001943.5(DSG2):c.2006T>A (p.Val669Glu)
|
rs1036247495
|
|
|
NM_001943.5(DSG2):c.2009CAT[3] (p.Ser671_Phe672insSer)
|
|
|
|
NM_001943.5(DSG2):c.200A>G (p.Lys67Arg)
|
|
|
|
NM_001943.5(DSG2):c.2014T>C (p.Phe672Leu)
|
rs2144352923
|
|
|
NM_001943.5(DSG2):c.2020C>T (p.Pro674Ser)
|
rs2144352935
|
|
|
NM_001943.5(DSG2):c.2033G>T (p.Gly678Val)
|
|
|
|
NM_001943.5(DSG2):c.2047G>C (p.Gly683Arg)
|
|
|
|
NM_001943.5(DSG2):c.2050A>G (p.Arg684Gly)
|
|
|
|
NM_001943.5(DSG2):c.2063G>A (p.Gly688Glu)
|
|
|
|
NM_001943.5(DSG2):c.2065G>C (p.Gly689Arg)
|
|
|
|
NM_001943.5(DSG2):c.2075A>C (p.Lys692Thr)
|
|
|
|
NM_001943.5(DSG2):c.2077G>A (p.Glu693Lys)
|
rs2144353065
|
|
|
NM_001943.5(DSG2):c.2081C>G (p.Ala694Gly)
|
|
|
|
NM_001943.5(DSG2):c.2088G>A (p.Met696Ile)
|
rs1598823943
|
|
|
NM_001943.5(DSG2):c.2098A>G (p.Ser700Gly)
|
|
|
|
NM_001943.5(DSG2):c.20G>C (p.Arg7Pro)
|
|
|
|
NM_001943.5(DSG2):c.2104G>A (p.Ala702Thr)
|
rs2144353139
|
|
|
NM_001943.5(DSG2):c.2112T>G (p.Ile704Met)
|
rs794728081
|
|
|
NM_001943.5(DSG2):c.2124A>T (p.Gln708His)
|
|
|
|
NM_001943.5(DSG2):c.2134_2142del (p.Ser712_Met714del)
|
rs778319427
|
|
|
NM_001943.5(DSG2):c.2139G>C (p.Glu713Asp)
|
|
|
|
NM_001943.5(DSG2):c.2143G>T (p.Asp715Tyr)
|
rs2073276150
|
|
|
NM_001943.5(DSG2):c.214A>G (p.Lys72Glu)
|
|
|
|
NM_001943.5(DSG2):c.216+3A>G
|
rs774208829
|
|
|
NM_001943.5(DSG2):c.2166A>T (p.Arg722Ser)
|
rs2073276336
|
|
|
NM_001943.5(DSG2):c.217-7dup
|
|
|
|
NM_001943.5(DSG2):c.2174T>C (p.Leu725Pro)
|
rs960047010
|
|
|
NM_001943.5(DSG2):c.2188A>G (p.Thr730Ala)
|
rs780650226
|
|
|
NM_001943.5(DSG2):c.2215A>C (p.Ile739Leu)
|
rs772240008
|
|
|
NM_001943.5(DSG2):c.2215A>T (p.Ile739Phe)
|
rs772240008
|
|
|
NM_001943.5(DSG2):c.2222C>T (p.Thr741Ile)
|
|
|
|
NM_001943.5(DSG2):c.2242G>A (p.Ala748Thr)
|
rs763994831
|
|
|
NM_001943.5(DSG2):c.2242G>T (p.Ala748Ser)
|
rs763994831
|
|
|
NM_001943.5(DSG2):c.2263A>G (p.Arg755Gly)
|
rs2144353569
|
|
|
NM_001943.5(DSG2):c.2270T>C (p.Met757Thr)
|
rs876657792
|
|
|
NM_001943.5(DSG2):c.2272G>A (p.Ala758Thr)
|
|
|
|
NM_001943.5(DSG2):c.2276G>C (p.Gly759Ala)
|
rs2073277829
|
|
|
NM_001943.5(DSG2):c.2284G>A (p.Ala762Thr)
|
rs2144353655
|
|
|
NM_001943.5(DSG2):c.2285C>A (p.Ala762Glu)
|
|
|
|
NM_001943.5(DSG2):c.2296G>A (p.Ala766Thr)
|
|
|
|
NM_001943.5(DSG2):c.2303A>C (p.Asn768Thr)
|
|
|
|
NM_001943.5(DSG2):c.2308G>A (p.Glu770Lys)
|
|
|
|
NM_001943.5(DSG2):c.2327T>C (p.Phe776Ser)
|
rs2144353836
|
|
|
NM_001943.5(DSG2):c.2334+2dup
|
|
|
|
NM_001943.5(DSG2):c.2353G>A (p.Glu785Lys)
|
|
|
|
NM_001943.5(DSG2):c.235G>A (p.Glu79Lys)
|
|
|
|
NM_001943.5(DSG2):c.2366A>C (p.Asn789Thr)
|
rs2073300346
|
|
|
NM_001943.5(DSG2):c.2366A>G (p.Asn789Ser)
|
rs2073300346
|
|
|
NM_001943.5(DSG2):c.2377A>G (p.Lys793Glu)
|
rs2073300770
|
|
|
NM_001943.5(DSG2):c.238G>A (p.Glu80Lys)
|
rs2073123125
|
|
|
NM_001943.5(DSG2):c.2411C>G (p.Thr804Ser)
|
|
|
|
NM_001943.5(DSG2):c.2428T>A (p.Ser810Thr)
|
rs1555628166
|
|
|
NM_001943.5(DSG2):c.2434G>T (p.Gly812Cys)
|
rs121913010
|
|
|
NM_001943.5(DSG2):c.2443A>C (p.Ser815Arg)
|
rs1227447609
|
|
|
NM_001943.5(DSG2):c.2444G>A (p.Ser815Asn)
|
rs2144358945
|
|
|
NM_001943.5(DSG2):c.2447T>A (p.Phe816Tyr)
|
rs1284559802
|
|
|
NM_001943.5(DSG2):c.2459A>G (p.Glu820Gly)
|
|
|
|
NM_001943.5(DSG2):c.245G>A (p.Gly82Glu)
|
rs756081987
|
|
|
NM_001943.5(DSG2):c.245G>T (p.Gly82Val)
|
rs756081987
|
|
|
NM_001943.5(DSG2):c.2479G>C (p.Asp827His)
|
|
|
|
NM_001943.5(DSG2):c.2485T>A (p.Leu829Met)
|
rs968817397
|
|
|
NM_001943.5(DSG2):c.2492T>C (p.Leu831Pro)
|
|
|
|
NM_001943.5(DSG2):c.2504_2505inv (p.Thr835Met)
|
|
|
|
NM_001943.5(DSG2):c.2507T>C (p.Leu836Pro)
|
rs1425278506
|
|
|
NM_001943.5(DSG2):c.251A>G (p.Lys84Arg)
|
|
|
|
NM_001943.5(DSG2):c.2536G>T (p.Asp846Tyr)
|
rs1226243364
|
|
|
NM_001943.5(DSG2):c.254T>C (p.Ile85Thr)
|
|
|
|
NM_001943.5(DSG2):c.2562A>T (p.Arg854Ser)
|
rs1482979438
|
|
|
NM_001943.5(DSG2):c.2572G>T (p.Ala858Ser)
|
rs748800693
|
|
|
NM_001943.5(DSG2):c.2576C>T (p.Thr859Ile)
|
rs1445054250
|
|
|
NM_001943.5(DSG2):c.2581A>G (p.Thr861Ala)
|
rs1598826621
|
|
|
NM_001943.5(DSG2):c.2585G>C (p.Ser862Thr)
|
rs1598826629
|
|
|
NM_001943.5(DSG2):c.2593A>C (p.Thr865Pro)
|
rs866344768
|
|
|
NM_001943.5(DSG2):c.2616G>T (p.Glu872Asp)
|
|
|
|
NM_001943.5(DSG2):c.2639_2641del (p.Asn880del)
|
|
|
|
NM_001943.5(DSG2):c.2645A>C (p.Tyr882Ser)
|
rs1555628211
|
|
|
NM_001943.5(DSG2):c.2646CTC[1] (p.Ser884del)
|
rs794728095
|
|
|
NM_001943.5(DSG2):c.2654G>A (p.Gly885Asp)
|
|
|
|
NM_001943.5(DSG2):c.2657G>A (p.Ser886Asn)
|
rs1454240099
|
|
|
NM_001943.5(DSG2):c.2669T>G (p.Val890Gly)
|
|
|
|
NM_001943.5(DSG2):c.2699A>G (p.Glu900Gly)
|
|
|
|
NM_001943.5(DSG2):c.26A>T (p.Tyr9Phe)
|
rs2144276572
|
|
|
NM_001943.5(DSG2):c.2700G>T (p.Glu900Asp)
|
rs1396387126
|
|
|
NM_001943.5(DSG2):c.2720T>G (p.Val907Gly)
|
rs2073306318
|
|
|
NM_001943.5(DSG2):c.2727A>C (p.Glu909Asp)
|
rs771675609
|
|
|
NM_001943.5(DSG2):c.2731T>C (p.Ser911Pro)
|
|
|
|
NM_001943.5(DSG2):c.2737T>C (p.Ser913Pro)
|
|
|
|
NM_001943.5(DSG2):c.2758G>A (p.Val920Ile)
|
rs547741894
|
|
|
NM_001943.5(DSG2):c.2758G>C (p.Val920Leu)
|
rs547741894
|
|
|
NM_001943.5(DSG2):c.276A>C (p.Lys92Asn)
|
rs2144315629
|
|
|
NM_001943.5(DSG2):c.278G>A (p.Gly93Glu)
|
|
|
|
NM_001943.5(DSG2):c.2797G>T (p.Val933Leu)
|
rs373055076
|
|
|
NM_001943.5(DSG2):c.2800A>G (p.Ile934Val)
|
rs1469730786
|
|
|
NM_001943.5(DSG2):c.2803G>A (p.Ala935Thr)
|
|
|
|
NM_001943.5(DSG2):c.2825C>T (p.Thr942Ile)
|
rs771429752
|
|
|
NM_001943.5(DSG2):c.2830T>C (p.Ser944Pro)
|
rs1183510455
|
|
|
NM_001943.5(DSG2):c.2831C>G (p.Ser944Cys)
|
|
|
|
NM_001943.5(DSG2):c.2836A>C (p.Met946Leu)
|
|
|
|
NM_001943.5(DSG2):c.283A>G (p.Thr95Ala)
|
|
|
|
NM_001943.5(DSG2):c.2840C>T (p.Pro947Leu)
|
rs2144360381
|
|
|
NM_001943.5(DSG2):c.2860G>T (p.Gly954Cys)
|
|
|
|
NM_001943.5(DSG2):c.2861G>A (p.Gly954Asp)
|
rs1397270448
|
|
|
NM_001943.5(DSG2):c.2881C>T (p.Leu961Phe)
|
|
|
|
NM_001943.5(DSG2):c.2887G>T (p.Val963Leu)
|
|
|
|
NM_001943.5(DSG2):c.2893G>A (p.Glu965Lys)
|
rs1326783146
|
|
|
NM_001943.5(DSG2):c.2908C>G (p.Pro970Ala)
|
|
|
|
NM_001943.5(DSG2):c.2914T>C (p.Ser972Pro)
|
|
|
|
NM_001943.5(DSG2):c.2914T>G (p.Ser972Ala)
|
rs2073308983
|
|
|
NM_001943.5(DSG2):c.292C>T (p.Pro98Ser)
|
rs2073123674
|
|
|
NM_001943.5(DSG2):c.2933C>G (p.Pro978Arg)
|
|
|
|
NM_001943.5(DSG2):c.2944G>A (p.Glu982Lys)
|
rs781744343
|
|
|
NM_001943.5(DSG2):c.2951C>G (p.Thr984Arg)
|
|
|
|
NM_001943.5(DSG2):c.2965G>C (p.Glu989Gln)
|
|
|
|
NM_001943.5(DSG2):c.2974A>G (p.Ile992Val)
|
rs933743259
|
|
|
NM_001943.5(DSG2):c.2980C>T (p.Pro994Ser)
|
|
|
|
NM_001943.5(DSG2):c.2989G>T (p.Gly997Cys)
|
rs1203880394
|
|
|
NM_001943.5(DSG2):c.2990G>A (p.Gly997Asp)
|
rs1245395139
|
|
|
NM_001943.5(DSG2):c.299G>T (p.Gly100Val)
|
rs1236559318
|
|
|
NM_001943.5(DSG2):c.3013A>C (p.Thr1005Pro)
|
|
|
|
NM_001943.5(DSG2):c.3018G>C (p.Gln1006His)
|
|
|
|
NM_001943.5(DSG2):c.301A>G (p.Ile101Val)
|
|
|
|
NM_001943.5(DSG2):c.3037T>C (p.Tyr1013His)
|
|
|
|
NM_001943.5(DSG2):c.3038A>C (p.Tyr1013Ser)
|
|
|
|
NM_001943.5(DSG2):c.3046G>A (p.Val1016Met)
|
rs2073311048
|
|
|
NM_001943.5(DSG2):c.305T>A (p.Phe102Tyr)
|
rs2073123855
|
|
|
NM_001943.5(DSG2):c.3060G>T (p.Glu1020Asp)
|
|
|
|
NM_001943.5(DSG2):c.3061_3062del (p.Ser1021fs)
|
rs397516706
|
|
|
NM_001943.5(DSG2):c.3077G>A (p.Ser1026Asn)
|
|
|
|
NM_001943.5(DSG2):c.3091C>T (p.Pro1031Ser)
|
rs2144361340
|
|
|
NM_001943.5(DSG2):c.3100G>T (p.Ala1034Ser)
|
rs2144361362
|
|
|
NM_001943.5(DSG2):c.3116C>T (p.Ala1039Val)
|
|
|
|
NM_001943.5(DSG2):c.3123dup (p.Gln1042fs)
|
|
|
|
NM_001943.5(DSG2):c.3136G>A (p.Val1046Met)
|
|
|
|
NM_001943.5(DSG2):c.3140C>G (p.Thr1047Arg)
|
rs397516707
|
|
|
NM_001943.5(DSG2):c.3142_3143del (p.Glu1048fs)
|
|
|
|
NM_001943.5(DSG2):c.3143_3160dup (p.Glu1048_Pro1053dup)
|
rs1319078257
|
|
|
NM_001943.5(DSG2):c.3144_3147del (p.Arg1049fs)
|
rs758822081
|
|
|
NM_001943.5(DSG2):c.3146G>T (p.Arg1049Ile)
|
|
|
|
NM_001943.5(DSG2):c.3151C>A (p.Leu1051Ile)
|
|
|
|
NM_001943.5(DSG2):c.3158C>G (p.Pro1053Arg)
|
|
|
|
NM_001943.5(DSG2):c.3160G>C (p.Ala1054Pro)
|
|
|
|
NM_001943.5(DSG2):c.3165dup (p.Thr1056fs)
|
rs2073312554
|
|
|
NM_001943.5(DSG2):c.3185del (p.Gln1062fs)
|
rs2144361650
|
|
|
NM_001943.5(DSG2):c.31C>G (p.Leu11Val)
|
|
|
|
NM_001943.5(DSG2):c.3213dup (p.Arg1072Ter)
|
|
|
|
NM_001943.5(DSG2):c.3226G>T (p.Val1076Leu)
|
rs761545577
|
|
|
NM_001943.5(DSG2):c.3227T>C (p.Val1076Ala)
|
|
|
|
NM_001943.5(DSG2):c.3233G>C (p.Gly1078Ala)
|
rs1064795829
|
|
|
NM_001943.5(DSG2):c.3257C>T (p.Pro1086Leu)
|
|
|
|
NM_001943.5(DSG2):c.325G>A (p.Gly109Arg)
|
|
|
|
NM_001943.5(DSG2):c.3266G>T (p.Gly1089Val)
|
rs200264407
|
|
|
NM_001943.5(DSG2):c.3280G>C (p.Gly1094Arg)
|
rs2073313909
|
|
|
NM_001943.5(DSG2):c.3281G>A (p.Gly1094Asp)
|
rs144313973
|
|
|
NM_001943.5(DSG2):c.3295A>T (p.Thr1099Ser)
|
rs79068489
|
|
|
NM_001943.5(DSG2):c.32T>G (p.Leu11Arg)
|
rs2144276606
|
|
|
NM_001943.5(DSG2):c.3304A>G (p.Thr1102Ala)
|
rs778884735
|
|
|
NM_001943.5(DSG2):c.3308C>G (p.Ser1103Cys)
|
rs2073314462
|
|
|
NM_001943.5(DSG2):c.3312del (p.Thr1105fs)
|
rs1413344418
|
|
|
NM_001943.5(DSG2):c.3329A>C (p.His1110Pro)
|
|
|
|
NM_001943.5(DSG2):c.3331A>T (p.Ser1111Cys)
|
|
|
|
NM_001943.5(DSG2):c.3337G>C (p.Val1113Leu)
|
rs924943447
|
|
|
NM_001943.5(DSG2):c.3340C>T (p.Gln1114Ter)
|
rs776078563
|
|
|
NM_001943.5(DSG2):c.3350A>T (p.Tyr1117Phe)
|
|
|
|
NM_001943.5(DSG2):c.3357A>T (p.Ter1119Tyr)
|
rs2144362223
|
|
|
NM_001943.5(DSG2):c.335A>G (p.Asn112Ser)
|
rs2144315760
|
|
|
NM_001943.5(DSG2):c.344G>A (p.Ser115Asn)
|
rs2073124006
|
|
|
NM_001943.5(DSG2):c.349C>A (p.Leu117Ile)
|
|
|
|
NM_001943.5(DSG2):c.367C>T (p.Pro123Ser)
|
rs2073124113
|
|
|
NM_001943.5(DSG2):c.368C>T (p.Pro123Leu)
|
|
|
|
NM_001943.5(DSG2):c.37C>T (p.Leu13Phe)
|
rs1276147010
|
|
|
NM_001943.5(DSG2):c.385G>T (p.Gly129Cys)
|
rs2073125035
|
|
|
NM_001943.5(DSG2):c.391G>T (p.Ala131Ser)
|
rs373542380
|
|
|
NM_001943.5(DSG2):c.399T>G (p.Asp133Glu)
|
rs2073125147
|
|
|
NM_001943.5(DSG2):c.424C>A (p.Pro142Thr)
|
rs1005230453
|
|
|
NM_001943.5(DSG2):c.42_44del (p.Leu15del)
|
rs2072994567
|
|
|
NM_001943.5(DSG2):c.436C>T (p.Arg146Cys)
|
|
|
|
NM_001943.5(DSG2):c.437G>A (p.Arg146His)
|
rs113451409
|
|
|
NM_001943.5(DSG2):c.439A>G (p.Ile147Val)
|
rs1316807839
|
|
|
NM_001943.5(DSG2):c.442_450del (p.Lys148_Leu150del)
|
rs2073125611
|
|
|
NM_001943.5(DSG2):c.45+5G>C
|
rs1423214260
|
|
|
NM_001943.5(DSG2):c.45+6T>C
|
rs2072994676
|
|
|
NM_001943.5(DSG2):c.451G>A (p.Asp151Asn)
|
rs1598810722
|
|
|
NM_001943.5(DSG2):c.46-14A>G
|
|
|
|
NM_001943.5(DSG2):c.462C>A (p.Asp154Glu)
|
rs2073125869
|
|
|
NM_001943.5(DSG2):c.462C>G (p.Asp154Glu)
|
|
|
|
NM_001943.5(DSG2):c.464A>G (p.Asn155Ser)
|
|
|
|
NM_001943.5(DSG2):c.478A>G (p.Thr160Ala)
|
rs2073126133
|
|
|
NM_001943.5(DSG2):c.488T>C (p.Val163Ala)
|
|
|
|
NM_001943.5(DSG2):c.493G>A (p.Val165Ile)
|
|
|
|
NM_001943.5(DSG2):c.493G>T (p.Val165Phe)
|
|
|
|
NM_001943.5(DSG2):c.494T>C (p.Val165Ala)
|
|
|
|
NM_001943.5(DSG2):c.505G>A (p.Glu169Lys)
|
|
|
|
NM_001943.5(DSG2):c.515G>T (p.Ser172Ile)
|
|
|
|
NM_001943.5(DSG2):c.523+4A>G
|
|
|
|
NM_001943.5(DSG2):c.530T>C (p.Leu177Pro)
|
|
|
|
NM_001943.5(DSG2):c.534G>T (p.Val178=)
|
|
|
|
NM_001943.5(DSG2):c.550A>G (p.Thr184Ala)
|
rs2073131261
|
|
|
NM_001943.5(DSG2):c.551C>T (p.Thr184Ile)
|
rs372605499
|
|
|
NM_001943.5(DSG2):c.564_565delinsAA (p.Pro189Thr)
|
|
|
|
NM_001943.5(DSG2):c.572C>G (p.Thr191Ser)
|
rs1555671315
|
|
|
NM_001943.5(DSG2):c.586A>G (p.Ile196Val)
|
rs1422826393
|
|
|
NM_001943.5(DSG2):c.590C>G (p.Ser197Cys)
|
|
|
|
NM_001943.5(DSG2):c.601G>A (p.Val201Ile)
|
rs184100321
|
|
|
NM_001943.5(DSG2):c.650C>T (p.Thr217Ile)
|
rs776720174
|
|
|
NM_001943.5(DSG2):c.670A>G (p.Ser224Gly)
|
rs1060502863
|
|
|
NM_001943.5(DSG2):c.677C>G (p.Thr226Ser)
|
|
|
|
NM_001943.5(DSG2):c.680T>C (p.Leu227Ser)
|
|
|
|
NM_001943.5(DSG2):c.691-5T>A
|
|
|
|
NM_001943.5(DSG2):c.697A>G (p.Ser233Gly)
|
rs2073148481
|
|
|
NM_001943.5(DSG2):c.719A>C (p.Glu240Ala)
|
rs2073148766
|
|
|
NM_001943.5(DSG2):c.721G>C (p.Ala241Pro)
|
|
|
|
NM_001943.5(DSG2):c.734A>G (p.Asn245Ser)
|
rs1568106586
|
|
|
NM_001943.5(DSG2):c.748G>C (p.Asp250His)
|
|
|
|
NM_001943.5(DSG2):c.748G>T (p.Asp250Tyr)
|
rs1459918321
|
|
|
NM_001943.5(DSG2):c.756T>G (p.Pro252=)
|
|
|
|
NM_001943.5(DSG2):c.772G>T (p.Val258Phe)
|
rs1060502865
|
|
|
NM_001943.5(DSG2):c.784A>G (p.Ile262Val)
|
rs2073149359
|
|
|
NM_001943.5(DSG2):c.794T>A (p.Val265Asp)
|
|
|
|
NM_001943.5(DSG2):c.7C>G (p.Arg3Gly)
|
|
|
|
NM_001943.5(DSG2):c.800A>G (p.Asp267Gly)
|
|
|
|
NM_001943.5(DSG2):c.803A>T (p.Asn268Ile)
|
rs942590973
|
|
|
NM_001943.5(DSG2):c.81+16_81+17delinsTG
|
rs2144311694
|
|
|
NM_001943.5(DSG2):c.81+5_81+6del
|
|
|
|
NM_001943.5(DSG2):c.812_813insCAT (p.Val271_Val272insIle)
|
|
|
|
NM_001943.5(DSG2):c.818A>C (p.Glu273Ala)
|
|
|
|
NM_001943.5(DSG2):c.81G>A (p.Gln27=)
|
rs2144311636
|
|
|
NM_001943.5(DSG2):c.82-13T>G
|
|
|
|
NM_001943.5(DSG2):c.828_828+2del
|
rs786204292
|
|
|
NM_001943.5(DSG2):c.829_840del (p.Leu277_Met280del)
|
rs794728093
|
|
|
NM_001943.5(DSG2):c.838A>G (p.Met280Val)
|
|
|
|
NM_001943.5(DSG2):c.839T>C (p.Met280Thr)
|
rs1002445324
|
|
|
NM_001943.5(DSG2):c.844GAA[1] (p.Glu283del)
|
rs1365781004
|
|
|
NM_001943.5(DSG2):c.856G>A (p.Val286Ile)
|
rs1568106749
|
|
|
NM_001943.5(DSG2):c.861_862delinsTC (p.Val288Leu)
|
rs2144322697
|
|
|
NM_001943.5(DSG2):c.863T>G (p.Val288Gly)
|
|
|
|
NM_001943.5(DSG2):c.869T>G (p.Val290Gly)
|
rs2144322727
|
|
|
NM_001943.5(DSG2):c.875G>A (p.Arg292His)
|
rs185821167
|
|
|
NM_001943.5(DSG2):c.875G>T (p.Arg292Leu)
|
rs185821167
|
|
|
NM_001943.5(DSG2):c.877A>T (p.Ile293Leu)
|
rs2230234
|
|
|
NM_001943.5(DSG2):c.87A>T (p.Leu29Phe)
|
|
|
|
NM_001943.5(DSG2):c.881A>T (p.Lys294Ile)
|
rs1168649465
|
|
|
NM_001943.5(DSG2):c.890A>T (p.Asp297Val)
|
rs1418275138
|
|
|
NM_001943.5(DSG2):c.893_898del (p.Ala298_Asp299del)
|
rs1331118515
|
|
|
NM_001943.5(DSG2):c.904G>A (p.Gly302Ser)
|
rs1402723514
|
|
|
NM_001943.5(DSG2):c.905G>A (p.Gly302Asp)
|
rs1338174918
|
|
|
NM_001943.5(DSG2):c.914A>G (p.Asn305Ser)
|
rs2073152820
|
|
|
NM_001943.5(DSG2):c.916T>C (p.Trp306Arg)
|
|
|
|
NM_001943.5(DSG2):c.920T>G (p.Leu307Arg)
|
|
|
|
NM_001943.5(DSG2):c.934T>C (p.Phe312Leu)
|
|
|
|
NM_001943.5(DSG2):c.955G>A (p.Gly319Ser)
|
rs1064796086
|
|
|
NM_001943.5(DSG2):c.95G>A (p.Arg32Lys)
|
|
|
|
NM_001943.5(DSG2):c.967A>G (p.Ile323Val)
|
rs886039096
|
|
|
NM_001943.5(DSG2):c.968T>C (p.Ile323Thr)
|
|
|
|
NM_001943.5(DSG2):c.972A>C (p.Glu324Asp)
|
|
|
|
NM_001943.5(DSG2):c.983A>C (p.Gln328Pro)
|
|
|
|
NM_001943.5(DSG2):c.983A>G (p.Gln328Arg)
|
|
|
|
NM_001943.5(DSG2):c.988A>G (p.Asn330Asp)
|
rs1410479706
|
|
|
NM_001943.5(DSG2):c.98A>C (p.Asn33Thr)
|
rs727505205
|
|
|
NM_001943.5(DSG2):c.994G>A (p.Gly332Arg)
|
|
|
|
NM_001985.3(ETFB):c.122T>C (p.Phe41Ser)
|
rs746082442
|
|
|
NM_001985.3(ETFB):c.14G>T (p.Arg5Leu)
|
|
|
|
NM_001985.3(ETFB):c.151C>G (p.Arg51Gly)
|
|
|
|
NM_001985.3(ETFB):c.152G>A (p.Arg51Gln)
|
|
|
|
NM_001985.3(ETFB):c.166A>C (p.Lys56Gln)
|
|
|
|
NM_001985.3(ETFB):c.186C>G (p.Ile62Met)
|
|
|
|
NM_001985.3(ETFB):c.190G>A (p.Val64Ile)
|
|
|
|
NM_001985.3(ETFB):c.22G>A (p.Val8Ile)
|
rs531136177
|
|
|
NM_001985.3(ETFB):c.22G>C (p.Val8Leu)
|
|
|
|
NM_001985.3(ETFB):c.247G>A (p.Ala83Thr)
|
rs1352787179
|
|
|
NM_001985.3(ETFB):c.254G>A (p.Arg85Gln)
|
|
|
|
NM_001985.3(ETFB):c.257G>T (p.Gly86Val)
|
|
|
|
NM_001985.3(ETFB):c.259A>G (p.Ile87Val)
|
rs2123587270
|
|
|
NM_001985.3(ETFB):c.2T>C (p.Met1Thr)
|
|
|
|
NM_001985.3(ETFB):c.326C>A (p.Ala109Asp)
|
|
|
|
NM_001985.3(ETFB):c.334G>T (p.Ala112Ser)
|
|
|
|
NM_001985.3(ETFB):c.343_345del (p.Glu115del)
|
|
|
|
NM_001985.3(ETFB):c.353A>G (p.Asp118Gly)
|
|
|
|
NM_001985.3(ETFB):c.358G>T (p.Val120Leu)
|
|
|
|
NM_001985.3(ETFB):c.375+6T>G
|
|
|
|
NM_001985.3(ETFB):c.395A>C (p.Asn132Thr)
|
|
|
|
NM_001985.3(ETFB):c.411G>A (p.Met137Ile)
|
|
|
|
NM_001985.3(ETFB):c.438+4A>G
|
|
|
|
NM_001985.3(ETFB):c.438+5G>A
|
|
|
|
NM_001985.3(ETFB):c.498C>G (p.Ile166Met)
|
|
|
|
NM_001985.3(ETFB):c.499G>A (p.Asp167Asn)
|
|
|
|
NM_001985.3(ETFB):c.499G>C (p.Asp167His)
|
rs140614695
|
|
|
NM_001985.3(ETFB):c.49G>T (p.Ala17Ser)
|
|
|
|
NM_001985.3(ETFB):c.520C>G (p.Arg174Gly)
|
rs755539437
|
|
|
NM_001985.3(ETFB):c.520C>T (p.Arg174Cys)
|
|
|
|
NM_001985.3(ETFB):c.52G>T (p.Val18Leu)
|
|
|
|
NM_001985.3(ETFB):c.53T>G (p.Val18Gly)
|
|
|
|
NM_001985.3(ETFB):c.589A>G (p.Asn197Asp)
|
rs747411704
|
|
|
NM_001985.3(ETFB):c.598-3C>T
|
|
|
|
NM_001985.3(ETFB):c.605AGA[3] (p.Lys205del)
|
rs767519060
|
|
|
NM_001985.3(ETFB):c.611A>G (p.Lys204Arg)
|
|
|
|
NM_001985.3(ETFB):c.622G>A (p.Val208Met)
|
|
|
|
NM_001985.3(ETFB):c.62G>A (p.Arg21Gln)
|
rs369216610
|
|
|
NM_001985.3(ETFB):c.631C>T (p.Pro211Ser)
|
|
|
|
NM_001985.3(ETFB):c.632C>A (p.Pro211His)
|
rs760907327
|
|
|
NM_001985.3(ETFB):c.676A>T (p.Ser226Cys)
|
rs2123567525
|
|
|
NM_001985.3(ETFB):c.697C>T (p.Arg233Cys)
|
rs761714465
|
|
|
NM_001985.3(ETFB):c.706G>C (p.Gly236Arg)
|
|
|
|
NM_001985.3(ETFB):c.715G>A (p.Val239Met)
|
|
|
|
NM_001985.3(ETFB):c.760C>T (p.Arg254Trp)
|
rs370522844
|
|
|
NM_001985.3(ETFB):c.78G>T (p.Arg26Ser)
|
|
|
|
NM_001985.3(ETFB):c.82G>C (p.Gly28Arg)
|
|
|
|
NM_001985.3(ETFB):c.98G>A (p.Gly33Asp)
|
|
|
|
NM_002230.3(JUP):c.910_912dup (p.Leu304_Ile305insLeu)
|
rs1567812900
|
|
|
NM_002230.4(JUP):c.1000G>A (p.Val334Met)
|
|
|
|
NM_002230.4(JUP):c.1013T>C (p.Leu338Pro)
|
rs2143598327
|
|
|
NM_002230.4(JUP):c.1022G>A (p.Cys341Tyr)
|
rs1567812537
|
|
|
NM_002230.4(JUP):c.1028G>A (p.Ser343Asn)
|
rs1597808088
|
|
|
NM_002230.4(JUP):c.1036C>T (p.Pro346Ser)
|
|
|
|
NM_002230.4(JUP):c.1040C>T (p.Ala347Val)
|
rs1915466603
|
|
|
NM_002230.4(JUP):c.1046T>C (p.Val349Ala)
|
|
|
|
NM_002230.4(JUP):c.1049A>G (p.Glu350Gly)
|
rs1915464336
|
|
|
NM_002230.4(JUP):c.1054+3G>A
|
|
|
|
NM_002230.4(JUP):c.1055-3C>G
|
rs1597807473
|
|
|
NM_002230.4(JUP):c.1057G>A (p.Gly353Arg)
|
|
|
|
NM_002230.4(JUP):c.1072G>C (p.Gly358Arg)
|
rs1915435636
|
|
|
NM_002230.4(JUP):c.1082T>C (p.Leu361Pro)
|
rs2143593694
|
|
|
NM_002230.4(JUP):c.1085C>T (p.Thr362Ile)
|
rs1915432778
|
|
|
NM_002230.4(JUP):c.1088G>T (p.Ser363Ile)
|
rs2143593479
|
|
|
NM_002230.4(JUP):c.1096C>T (p.Pro366Ser)
|
|
|
|
NM_002230.4(JUP):c.1097C>T (p.Pro366Leu)
|
|
|
|
NM_002230.4(JUP):c.1099C>T (p.Arg367Cys)
|
|
|
|
NM_002230.4(JUP):c.1100G>A (p.Arg367His)
|
rs782067441
|
|
|
NM_002230.4(JUP):c.1129C>T (p.Arg377Cys)
|
rs368564000
|
|
|
NM_002230.4(JUP):c.1139C>T (p.Ser380Leu)
|
|
|
|
NM_002230.4(JUP):c.113GCA[1] (p.Ser39del)
|
rs113994176
|
|
|
NM_002230.4(JUP):c.113GCA[3] (p.Ser39dup)
|
rs113994176
|
|
|
NM_002230.4(JUP):c.114C>A (p.Ser38Arg)
|
rs782391511
|
|
|
NM_002230.4(JUP):c.1163G>A (p.Gly388Asp)
|
rs1555602470
|
|
|
NM_002230.4(JUP):c.1193A>G (p.Asn398Ser)
|
|
|
|
NM_002230.4(JUP):c.1207G>T (p.Asp403Tyr)
|
|
|
|
NM_002230.4(JUP):c.1212C>A (p.Asp404Glu)
|
rs1482026041
|
|
|
NM_002230.4(JUP):c.1218C>A (p.Asn406Lys)
|
|
|
|
NM_002230.4(JUP):c.121G>A (p.Gly41Ser)
|
|
|
|
NM_002230.4(JUP):c.122G>A (p.Gly41Asp)
|
|
|
|
NM_002230.4(JUP):c.1232C>T (p.Ala411Val)
|
rs1060502680
|
|
|
NM_002230.4(JUP):c.1241C>T (p.Thr414Ile)
|
|
|
|
NM_002230.4(JUP):c.1247C>T (p.Ser416Phe)
|
|
|
|
NM_002230.4(JUP):c.1268G>A (p.Ser423Asn)
|
|
|
|
NM_002230.4(JUP):c.127A>G (p.Met43Val)
|
rs1916678676
|
|
|
NM_002230.4(JUP):c.1283T>C (p.Leu428Pro)
|
|
|
|
NM_002230.4(JUP):c.129G>A (p.Met43Ile)
|
rs1555606996
|
|
|
NM_002230.4(JUP):c.1301G>A (p.Gly434Asp)
|
|
|
|
NM_002230.4(JUP):c.1306G>A (p.Glu436Lys)
|
rs1915172914
|
|
|
NM_002230.4(JUP):c.1312C>G (p.Leu438Val)
|
|
|
|
NM_002230.4(JUP):c.1318C>T (p.His440Tyr)
|
rs1555602228
|
|
|
NM_002230.4(JUP):c.1320T>A (p.His440Gln)
|
|
|
|
NM_002230.4(JUP):c.1322C>A (p.Ala441Asp)
|
|
|
|
NM_002230.4(JUP):c.1339G>A (p.Asp447Asn)
|
rs1915164389
|
|
|
NM_002230.4(JUP):c.133G>A (p.Glu45Lys)
|
|
|
|
NM_002230.4(JUP):c.1346A>G (p.Asp449Gly)
|
|
|
|
NM_002230.4(JUP):c.1346A>T (p.Asp449Val)
|
rs1174382765
|
|
|
NM_002230.4(JUP):c.1348G>A (p.Asp450Asn)
|
|
|
|
NM_002230.4(JUP):c.1351A>G (p.Ile451Val)
|
|
|
|
NM_002230.4(JUP):c.135G>C (p.Glu45Asp)
|
rs2143735253
|
|
|
NM_002230.4(JUP):c.1360C>T (p.Pro454Ser)
|
|
|
|
NM_002230.4(JUP):c.136G>T (p.Asp46Tyr)
|
|
|
|
NM_002230.4(JUP):c.1384C>T (p.Leu462Phe)
|
|
|
|
NM_002230.4(JUP):c.1393C>T (p.Arg465Cys)
|
|
|
|
NM_002230.4(JUP):c.1398C>A (p.His466Gln)
|
rs1555602097
|
|
|
NM_002230.4(JUP):c.1410G>C (p.Glu470Asp)
|
rs2143559758
|
|
|
NM_002230.4(JUP):c.1429C>T (p.Arg477Cys)
|
|
|
|
NM_002230.4(JUP):c.142G>C (p.Ala48Pro)
|
|
|
|
NM_002230.4(JUP):c.1432C>T (p.Leu478Phe)
|
|
|
|
NM_002230.4(JUP):c.143C>A (p.Ala48Asp)
|
rs2143735114
|
|
|
NM_002230.4(JUP):c.1442G>T (p.Gly481Val)
|
|
|
|
NM_002230.4(JUP):c.1455C>G (p.Ile485Met)
|
|
|
|
NM_002230.4(JUP):c.1469A>G (p.Asn490Ser)
|
|
|
|
NM_002230.4(JUP):c.1470C>G (p.Asn490Lys)
|
|
|
|
NM_002230.4(JUP):c.1481A>G (p.Gln494Arg)
|
rs2143558258
|
|
|
NM_002230.4(JUP):c.1482G>C (p.Gln494His)
|
rs1367975995
|
|
|
NM_002230.4(JUP):c.1495A>C (p.Lys499Gln)
|
rs782395614
|
|
|
NM_002230.4(JUP):c.1512G>T (p.Leu504Phe)
|
|
|
|
NM_002230.4(JUP):c.1525G>T (p.Ala509Ser)
|
rs1555599847
|
|
|
NM_002230.4(JUP):c.1534C>G (p.Pro512Ala)
|
|
|
|
NM_002230.4(JUP):c.1544A>G (p.His515Arg)
|
rs2143460147
|
|
|
NM_002230.4(JUP):c.1546G>A (p.Ala516Thr)
|
rs2143460021
|
|
|
NM_002230.4(JUP):c.1547C>A (p.Ala516Asp)
|
rs1255846046
|
|
|
NM_002230.4(JUP):c.1549C>T (p.Pro517Ser)
|
|
|
|
NM_002230.4(JUP):c.154C>A (p.Gln52Lys)
|
|
|
|
NM_002230.4(JUP):c.1556A>T (p.Gln519Leu)
|
rs1060502677
|
|
|
NM_002230.4(JUP):c.1563_1565dup (p.Ala522_Val523insAla)
|
|
|
|
NM_002230.4(JUP):c.1565C>A (p.Ala522Glu)
|
rs1060502679
|
|
|
NM_002230.4(JUP):c.1573C>T (p.Pro525Ser)
|
rs1914314355
|
|
|
NM_002230.4(JUP):c.1574C>T (p.Pro525Leu)
|
|
|
|
NM_002230.4(JUP):c.1576C>A (p.Arg526Ser)
|
rs782309611
|
|
|
NM_002230.4(JUP):c.1597A>G (p.Lys533Glu)
|
|
|
|
NM_002230.4(JUP):c.1619G>A (p.Arg540His)
|
rs376881608
|
|
|
NM_002230.4(JUP):c.1622A>T (p.His541Leu)
|
rs782449369
|
|
|
NM_002230.4(JUP):c.1625T>C (p.Val542Ala)
|
rs2143457194
|
|
|
NM_002230.4(JUP):c.1634G>A (p.Gly545Asp)
|
|
|
|
NM_002230.4(JUP):c.1635C>T (p.Gly545=)
|
|
|
|
NM_002230.4(JUP):c.1642C>G (p.Gln548Glu)
|
|
|
|
NM_002230.4(JUP):c.1646C>A (p.Pro549His)
|
rs1555599683
|
|
|
NM_002230.4(JUP):c.1653+4T>A
|
|
|
|
NM_002230.4(JUP):c.1653+5G>C
|
|
|
|
NM_002230.4(JUP):c.1653G>T (p.Thr551=)
|
|
|
|
NM_002230.4(JUP):c.1654-7C>A
|
rs1395283149
|
|
|
NM_002230.4(JUP):c.1654G>A (p.Asp552Asn)
|
rs2143451579
|
|
|
NM_002230.4(JUP):c.1658G>C (p.Gly553Ala)
|
rs782759301
|
|
|
NM_002230.4(JUP):c.1658G>T (p.Gly553Val)
|
|
|
|
NM_002230.4(JUP):c.1688G>A (p.Cys563Tyr)
|
rs142006878
|
|
|
NM_002230.4(JUP):c.1702C>T (p.His568Tyr)
|
rs794729048
|
|
|
NM_002230.4(JUP):c.1705A>T (p.Ile569Phe)
|
rs370101446
|
|
|
NM_002230.4(JUP):c.1711G>A (p.Ala571Thr)
|
rs397517297
|
|
|
NM_002230.4(JUP):c.1711G>T (p.Ala571Ser)
|
rs397517297
|
|
|
NM_002230.4(JUP):c.1715G>T (p.Arg572Leu)
|
rs397517298
|
|
|
NM_002230.4(JUP):c.1717G>T (p.Asp573Tyr)
|
|
|
|
NM_002230.4(JUP):c.1725G>T (p.Met575Ile)
|
|
|
|
NM_002230.4(JUP):c.1738A>T (p.Ile580Phe)
|
|
|
|
NM_002230.4(JUP):c.1745G>A (p.Arg582Gln)
|
rs781828085
|
|
|
NM_002230.4(JUP):c.1759C>T (p.Pro587Ser)
|
|
|
|
NM_002230.4(JUP):c.1762C>G (p.Leu588Val)
|
|
|
|
NM_002230.4(JUP):c.1773+3G>A
|
rs1460748612
|
|
|
NM_002230.4(JUP):c.1774C>G (p.Leu592Val)
|
|
|
|
NM_002230.4(JUP):c.1778T>A (p.Leu593Gln)
|
|
|
|
NM_002230.4(JUP):c.1796A>G (p.Asn599Ser)
|
rs1257379135
|
|
|
NM_002230.4(JUP):c.1807G>A (p.Val603Met)
|
rs200327969
|
|
|
NM_002230.4(JUP):c.1816G>A (p.Gly606Arg)
|
|
|
|
NM_002230.4(JUP):c.1816G>C (p.Gly606Arg)
|
rs1371912642
|
|
|
NM_002230.4(JUP):c.1825T>C (p.Cys609Arg)
|
|
|
|
NM_002230.4(JUP):c.1835C>G (p.Ala612Gly)
|
|
|
|
NM_002230.4(JUP):c.1842C>G (p.Asp614Glu)
|
rs2143427860
|
|
|
NM_002230.4(JUP):c.1849G>A (p.Ala617Thr)
|
rs397517299
|
|
|
NM_002230.4(JUP):c.185C>A (p.Thr62Asn)
|
rs1555606943
|
|
|
NM_002230.4(JUP):c.1870G>C (p.Glu624Gln)
|
rs2143426682
|
|
|
NM_002230.4(JUP):c.1871A>G (p.Glu624Gly)
|
rs1914071758
|
|
|
NM_002230.4(JUP):c.1876G>C (p.Ala626Pro)
|
rs782547688
|
|
|
NM_002230.4(JUP):c.188A>G (p.Gln63Arg)
|
|
|
|
NM_002230.4(JUP):c.1895A>G (p.Glu632Gly)
|
|
|
|
NM_002230.4(JUP):c.1910G>T (p.Arg637Leu)
|
|
|
|
NM_002230.4(JUP):c.1913A>C (p.Asn638Thr)
|
rs561484928
|
|
|
NM_002230.4(JUP):c.1914C>G (p.Asn638Lys)
|
|
|
|
NM_002230.4(JUP):c.1925-9T>A
|
rs2143420829
|
|
|
NM_002230.4(JUP):c.1927A>G (p.Thr643Ala)
|
rs2143420466
|
|
|
NM_002230.4(JUP):c.1927A>T (p.Thr643Ser)
|
rs2143420466
|
|
|
NM_002230.4(JUP):c.1934C>T (p.Ala645Val)
|
|
|
|
NM_002230.4(JUP):c.193G>A (p.Val65Met)
|
rs727503100
|
|
|
NM_002230.4(JUP):c.193G>T (p.Val65Leu)
|
rs727503100
|
|
|
NM_002230.4(JUP):c.1948T>C (p.Phe650Leu)
|
rs1208908708
|
|
|
NM_002230.4(JUP):c.1951C>T (p.Arg651Cys)
|
|
|
|
NM_002230.4(JUP):c.1954A>G (p.Ile652Val)
|
rs2143419427
|
|
|
NM_002230.4(JUP):c.1960G>A (p.Glu654Lys)
|
|
|
|
NM_002230.4(JUP):c.196C>T (p.Pro66Ser)
|
|
|
|
NM_002230.4(JUP):c.1972C>T (p.Pro658Ser)
|
|
|
|
NM_002230.4(JUP):c.1976A>G (p.Asp659Gly)
|
rs782124059
|
|
|
NM_002230.4(JUP):c.1979A>G (p.Tyr660Cys)
|
rs1555598672
|
|
|
NM_002230.4(JUP):c.197C>T (p.Pro66Leu)
|
|
|
|
NM_002230.4(JUP):c.1981C>T (p.Arg661Trp)
|
|
|
|
NM_002230.4(JUP):c.1987C>T (p.Arg663Cys)
|
|
|
|
NM_002230.4(JUP):c.1990G>C (p.Val664Leu)
|
rs782695128
|
|
|
NM_002230.4(JUP):c.1994C>T (p.Ser665Phe)
|
rs1555598615
|
|
|
NM_002230.4(JUP):c.1996G>T (p.Val666Leu)
|
rs372369061
|
|
|
NM_002230.4(JUP):c.1_6del (p.Met1_Glu2del)
|
rs1916704473
|
|
|
NM_002230.4(JUP):c.2002C>T (p.Leu668Phe)
|
|
|
|
NM_002230.4(JUP):c.2032G>A (p.Ala678Thr)
|
|
|
|
NM_002230.4(JUP):c.2035G>T (p.Ala679Ser)
|
|
|
|
NM_002230.4(JUP):c.2045C>T (p.Ala682Val)
|
|
|
|
NM_002230.4(JUP):c.2046T>C (p.Ala682=)
|
rs782632671
|
|
|
NM_002230.4(JUP):c.2073G>T (p.Glu691Asp)
|
rs1162219431
|
|
|
NM_002230.4(JUP):c.2078A>C (p.Tyr693Ser)
|
rs782475413
|
|
|
NM_002230.4(JUP):c.209-3del
|
rs560947371
|
|
|
NM_002230.4(JUP):c.209G>A (p.Gly70Asp)
|
|
|
|
NM_002230.4(JUP):c.2108C>G (p.Pro703Arg)
|
rs1008749253
|
|
|
NM_002230.4(JUP):c.2110A>G (p.Met704Val)
|
|
|
|
NM_002230.4(JUP):c.2112G>A (p.Met704Ile)
|
rs1555597505
|
|
|
NM_002230.4(JUP):c.2114A>T (p.Tyr705Phe)
|
|
|
|
NM_002230.4(JUP):c.2118dup (p.Ser707fs)
|
rs1913623011
|
|
|
NM_002230.4(JUP):c.2129C>A (p.Pro710His)
|
|
|
|
NM_002230.4(JUP):c.2137C>A (p.Pro713Thr)
|
rs1555597496
|
|
|
NM_002230.4(JUP):c.2138C>T (p.Pro713Leu)
|
|
|
|
NM_002230.4(JUP):c.2141T>C (p.Leu714Pro)
|
rs2143373822
|
|
|
NM_002230.4(JUP):c.2152A>G (p.Met718Val)
|
|
|
|
NM_002230.4(JUP):c.2156A>G (p.Asp719Gly)
|
rs1283154446
|
|
|
NM_002230.4(JUP):c.2158A>G (p.Met720Val)
|
|
|
|
NM_002230.4(JUP):c.2162A>G (p.Asp721Gly)
|
|
|
|
NM_002230.4(JUP):c.2185T>A (p.Tyr729Asn)
|
rs1555597428
|
|
|
NM_002230.4(JUP):c.2188A>G (p.Ser730Gly)
|
rs1009184280
|
|
|
NM_002230.4(JUP):c.2197C>T (p.Leu733Phe)
|
|
|
|
NM_002230.4(JUP):c.21G>A (p.Met7Ile)
|
rs782076076
|
|
|
NM_002230.4(JUP):c.2203C>T (p.Pro735Ser)
|
|
|
|
NM_002230.4(JUP):c.2204C>G (p.Pro735Arg)
|
rs782574785
|
|
|
NM_002230.4(JUP):c.2204C>T (p.Pro735Leu)
|
rs782574785
|
|
|
NM_002230.4(JUP):c.2215A>G (p.Thr739Ala)
|
|
|
|
NM_002230.4(JUP):c.2219C>T (p.Ala740Val)
|
|
|
|
NM_002230.4(JUP):c.2227A>G (p.Met743Val)
|
rs1913591137
|
|
|
NM_002230.4(JUP):c.226A>G (p.Met76Val)
|
rs782730235
|
|
|
NM_002230.4(JUP):c.228G>A (p.Met76Ile)
|
rs202091411
|
|
|
NM_002230.4(JUP):c.230C>T (p.Ser77Phe)
|
|
|
|
NM_002230.4(JUP):c.232A>G (p.Thr78Ala)
|
rs1916308035
|
|
|
NM_002230.4(JUP):c.238G>A (p.Ala80Thr)
|
|
|
|
NM_002230.4(JUP):c.248A>G (p.Lys83Arg)
|
|
|
|
NM_002230.4(JUP):c.250C>G (p.Arg84Gly)
|
rs782306414
|
|
|
NM_002230.4(JUP):c.253G>C (p.Val85Leu)
|
rs782425952
|
|
|
NM_002230.4(JUP):c.25C>G (p.Gln9Glu)
|
|
|
|
NM_002230.4(JUP):c.262_263delinsAA (p.Ala88Asn)
|
rs1916297521
|
|
|
NM_002230.4(JUP):c.266T>A (p.Met89Lys)
|
|
|
|
NM_002230.4(JUP):c.269G>T (p.Cys90Phe)
|
|
|
|
NM_002230.4(JUP):c.272C>T (p.Pro91Leu)
|
rs1567819889
|
|
|
NM_002230.4(JUP):c.275G>A (p.Gly92Asp)
|
rs782737074
|
|
|
NM_002230.4(JUP):c.278T>G (p.Val93Gly)
|
rs1916292032
|
|
|
NM_002230.4(JUP):c.289G>C (p.Asp97His)
|
rs2143696352
|
|
|
NM_002230.4(JUP):c.292A>G (p.Ser98Gly)
|
|
|
|
NM_002230.4(JUP):c.293G>A (p.Ser98Asn)
|
rs1555605891
|
|
|
NM_002230.4(JUP):c.298C>T (p.Leu100Phe)
|
rs1555605883
|
|
|
NM_002230.4(JUP):c.308C>G (p.Ala103Gly)
|
rs2143695852
|
|
|
NM_002230.4(JUP):c.315G>T (p.Gln105His)
|
|
|
|
NM_002230.4(JUP):c.328G>A (p.Ala110Thr)
|
rs1916275770
|
|
|
NM_002230.4(JUP):c.35A>G (p.Lys12Arg)
|
|
|
|
NM_002230.4(JUP):c.365T>C (p.Leu122Pro)
|
rs2143694308
|
|
|
NM_002230.4(JUP):c.379A>G (p.Ile127Val)
|
rs1205967739
|
|
|
NM_002230.4(JUP):c.389TCA[1] (p.Ile131del)
|
rs781818082
|
|
|
NM_002230.4(JUP):c.401A>T (p.Gln134Leu)
|
|
|
|
NM_002230.4(JUP):c.403G>C (p.Asp135His)
|
rs1555605721
|
|
|
NM_002230.4(JUP):c.406G>C (p.Asp136His)
|
rs782392706
|
|
|
NM_002230.4(JUP):c.406G>T (p.Asp136Tyr)
|
rs782392706
|
|
|
NM_002230.4(JUP):c.450_451delinsCA (p.Leu151Ile)
|
rs2143691917
|
|
|
NM_002230.4(JUP):c.455A>G (p.Asn152Ser)
|
rs1555605656
|
|
|
NM_002230.4(JUP):c.457G>A (p.Asp153Asn)
|
|
|
|
NM_002230.4(JUP):c.468+18C>G
|
|
|
|
NM_002230.4(JUP):c.468+4T>C
|
rs782412433
|
|
|
NM_002230.4(JUP):c.484G>A (p.Ala162Thr)
|
|
|
|
NM_002230.4(JUP):c.484G>T (p.Ala162Ser)
|
rs1555605437
|
|
|
NM_002230.4(JUP):c.487G>A (p.Ala163Thr)
|
rs782239920
|
|
|
NM_002230.4(JUP):c.49C>A (p.Gln17Lys)
|
|
|
|
NM_002230.4(JUP):c.500A>T (p.Asn167Ile)
|
rs2143684902
|
|
|
NM_002230.4(JUP):c.505C>G (p.Leu169Val)
|
rs1916178629
|
|
|
NM_002230.4(JUP):c.511AAG[1] (p.Lys172del)
|
rs2143684447
|
|
|
NM_002230.4(JUP):c.515A>G (p.Lys172Arg)
|
rs2143684482
|
|
|
NM_002230.4(JUP):c.527G>T (p.Arg176Leu)
|
|
|
|
NM_002230.4(JUP):c.536T>A (p.Leu179Gln)
|
|
|
|
NM_002230.4(JUP):c.542G>T (p.Gly181Val)
|
rs1555605325
|
|
|
NM_002230.4(JUP):c.542_556dup (p.Gly181_Leu185dup)
|
rs1555605296
|
|
|
NM_002230.4(JUP):c.54G>C (p.Gln18His)
|
|
|
|
NM_002230.4(JUP):c.559G>A (p.Ala187Thr)
|
|
|
|
NM_002230.4(JUP):c.55A>G (p.Thr19Ala)
|
|
|
|
NM_002230.4(JUP):c.563C>G (p.Ala188Gly)
|
|
|
|
NM_002230.4(JUP):c.565G>C (p.Val189Leu)
|
|
|
|
NM_002230.4(JUP):c.568G>C (p.Val190Leu)
|
rs370143312
|
|
|
NM_002230.4(JUP):c.568G>T (p.Val190Leu)
|
rs370143312
|
|
|
NM_002230.4(JUP):c.579G>A (p.Met193Ile)
|
rs1916162051
|
|
|
NM_002230.4(JUP):c.593A>C (p.Asp198Ala)
|
rs1916158675
|
|
|
NM_002230.4(JUP):c.599A>C (p.Asp200Ala)
|
|
|
|
NM_002230.4(JUP):c.599A>G (p.Asp200Gly)
|
|
|
|
NM_002230.4(JUP):c.602C>T (p.Thr201Ile)
|
rs1916155693
|
|
|
NM_002230.4(JUP):c.605C>T (p.Ala202Val)
|
rs782337928
|
|
|
NM_002230.4(JUP):c.622A>G (p.Ile208Val)
|
|
|
|
NM_002230.4(JUP):c.626T>A (p.Leu209Gln)
|
|
|
|
NM_002230.4(JUP):c.631A>C (p.Asn211His)
|
|
|
|
NM_002230.4(JUP):c.631_633del (p.Asn211del)
|
rs1916151526
|
|
|
NM_002230.4(JUP):c.634C>G (p.Leu212Val)
|
|
|
|
NM_002230.4(JUP):c.643C>T (p.His215Tyr)
|
|
|
|
NM_002230.4(JUP):c.650A>G (p.Glu217Gly)
|
rs2143680736
|
|
|
NM_002230.4(JUP):c.652G>A (p.Gly218Arg)
|
rs1597823588
|
|
|
NM_002230.4(JUP):c.652G>C (p.Gly218Arg)
|
rs1597823588
|
|
|
NM_002230.4(JUP):c.664A>G (p.Ile222Val)
|
|
|
|
NM_002230.4(JUP):c.67G>A (p.Asp23Asn)
|
|
|
|
NM_002230.4(JUP):c.692T>C (p.Leu231Pro)
|
rs782109462
|
|
|
NM_002230.4(JUP):c.700A>G (p.Met234Val)
|
|
|
|
NM_002230.4(JUP):c.722C>T (p.Ser241Leu)
|
|
|
|
NM_002230.4(JUP):c.731T>C (p.Phe244Ser)
|
rs1915926866
|
|
|
NM_002230.4(JUP):c.743C>A (p.Thr248Asn)
|
|
|
|
NM_002230.4(JUP):c.745A>C (p.Thr249Pro)
|
rs2143652715
|
|
|
NM_002230.4(JUP):c.751C>T (p.His251Tyr)
|
|
|
|
NM_002230.4(JUP):c.754A>G (p.Asn252Asp)
|
rs1915923358
|
|
|
NM_002230.4(JUP):c.766T>C (p.Tyr256His)
|
rs1915921460
|
|
|
NM_002230.4(JUP):c.76A>C (p.Ile26Leu)
|
|
|
|
NM_002230.4(JUP):c.772G>C (p.Glu258Gln)
|
rs1915920461
|
|
|
NM_002230.4(JUP):c.790G>A (p.Val264Met)
|
|
|
|
NM_002230.4(JUP):c.796C>G (p.Leu266Val)
|
rs2143651347
|
|
|
NM_002230.4(JUP):c.805G>A (p.Gly269Arg)
|
rs1915915013
|
|
|
NM_002230.4(JUP):c.805G>C (p.Gly269Arg)
|
|
|
|
NM_002230.4(JUP):c.817A>T (p.Met273Leu)
|
rs2143650846
|
|
|
NM_002230.4(JUP):c.820G>A (p.Val274Met)
|
rs1555604537
|
|
|
NM_002230.4(JUP):c.839A>G (p.Asn280Ser)
|
|
|
|
NM_002230.4(JUP):c.83C>T (p.Ser28Leu)
|
rs782713414
|
|
|
NM_002230.4(JUP):c.856G>A (p.Ala286Thr)
|
rs1915907385
|
|
|
NM_002230.4(JUP):c.859A>G (p.Ile287Val)
|
rs1567815934
|
|
|
NM_002230.4(JUP):c.865_866delinsCT (p.Thr289Leu)
|
rs1915905294
|
|
|
NM_002230.4(JUP):c.871T>C (p.Cys291Arg)
|
rs2143649566
|
|
|
NM_002230.4(JUP):c.872G>A (p.Cys291Tyr)
|
rs1915903369
|
|
|
NM_002230.4(JUP):c.874C>G (p.Leu292Val)
|
rs1915903019
|
|
|
NM_002230.4(JUP):c.875T>C (p.Leu292Pro)
|
|
|
|
NM_002230.4(JUP):c.886G>T (p.Ala296Ser)
|
|
|
|
NM_002230.4(JUP):c.909+6C>A
|
|
|
|
NM_002230.4(JUP):c.926A>T (p.Asn309Ile)
|
rs140606359
|
|
|
NM_002230.4(JUP):c.931G>A (p.Gly311Arg)
|
rs1915488679
|
|
|
NM_002230.4(JUP):c.941C>G (p.Ala314Gly)
|
rs201214805
|
|
|
NM_002230.4(JUP):c.947T>G (p.Val316Gly)
|
rs1915485566
|
|
|
NM_002230.4(JUP):c.952A>G (p.Ile318Val)
|
|
|
|
NM_002230.4(JUP):c.958C>A (p.Arg320Ser)
|
|
|
|
NM_002230.4(JUP):c.959G>A (p.Arg320His)
|
rs781965392
|
|
|
NM_002230.4(JUP):c.959G>T (p.Arg320Leu)
|
|
|
|
NM_002230.4(JUP):c.970T>A (p.Tyr324Asn)
|
|
|
|
NM_002230.4(JUP):c.970T>C (p.Tyr324His)
|
|
|
|
NM_002230.4(JUP):c.98G>T (p.Cys33Phe)
|
|
|
|
NM_002230.4(JUP):c.995G>A (p.Ser332Asn)
|
rs1915476254
|
|
|
NM_002471.4(MYH6):c.1002+6T>C
|
|
|
|
NM_002471.4(MYH6):c.1007C>A (p.Ala336Asp)
|
rs138572790
|
|
|
NM_002471.4(MYH6):c.1007C>G (p.Ala336Gly)
|
rs138572790
|
|
|
NM_002471.4(MYH6):c.1014C>A (p.Asp338Glu)
|
rs763533477
|
|
|
NM_002471.4(MYH6):c.1034A>T (p.Glu345Val)
|
rs561344265
|
|
|
NM_002471.4(MYH6):c.1036G>A (p.Glu346Lys)
|
rs1262102654
|
|
|
NM_002471.4(MYH6):c.1037A>G (p.Glu346Gly)
|
rs1595062727
|
|
|
NM_002471.4(MYH6):c.1045G>A (p.Gly349Ser)
|
rs2138615221
|
|
|
NM_002471.4(MYH6):c.1046G>A (p.Gly349Asp)
|
|
|
|
NM_002471.4(MYH6):c.1056G>C (p.Lys352Asn)
|
|
|
|
NM_002471.4(MYH6):c.1066G>T (p.Ala356Ser)
|
|
|
|
NM_002471.4(MYH6):c.1070T>C (p.Ile357Thr)
|
|
|
|
NM_002471.4(MYH6):c.1074G>A (p.Met358Ile)
|
|
|
|
NM_002471.4(MYH6):c.1075C>T (p.His359Tyr)
|
|
|
|
NM_002471.4(MYH6):c.1078T>C (p.Tyr360His)
|
|
|
|
NM_002471.4(MYH6):c.1095C>G (p.Phe365Leu)
|
rs1595062683
|
|
|
NM_002471.4(MYH6):c.1110G>T (p.Arg370=)
|
rs763592565
|
|
|
NM_002471.4(MYH6):c.1129G>T (p.Asp377Tyr)
|
|
|
|
NM_002471.4(MYH6):c.1138G>A (p.Glu380Lys)
|
rs768924353
|
|
|
NM_002471.4(MYH6):c.1141+2T>G
|
|
|
|
NM_002471.4(MYH6):c.1141+4G>T
|
|
|
|
NM_002471.4(MYH6):c.1142-3C>T
|
|
|
|
NM_002471.4(MYH6):c.1142-4C>G
|
|
|
|
NM_002471.4(MYH6):c.1156G>A (p.Ala386Thr)
|
|
|
|
NM_002471.4(MYH6):c.1185C>A (p.Asp395Glu)
|
rs201822160
|
|
|
NM_002471.4(MYH6):c.1187T>C (p.Leu396Pro)
|
|
|
|
NM_002471.4(MYH6):c.1196G>A (p.Gly399Glu)
|
|
|
|
NM_002471.4(MYH6):c.1224C>T (p.Gly408=)
|
rs1555334635
|
|
|
NM_002471.4(MYH6):c.1227C>A (p.Asn409Lys)
|
|
|
|
NM_002471.4(MYH6):c.1228G>A (p.Glu410Lys)
|
rs2138612531
|
|
|
NM_002471.4(MYH6):c.1238C>T (p.Thr413Ile)
|
rs1566513991
|
|
|
NM_002471.4(MYH6):c.1249A>T (p.Ser417Cys)
|
rs199754151
|
|
|
NM_002471.4(MYH6):c.1251C>A (p.Ser417Arg)
|
rs543839082
|
|
|
NM_002471.4(MYH6):c.1265A>G (p.Tyr422Cys)
|
rs1891578725
|
|
|
NM_002471.4(MYH6):c.1272del (p.Ile425fs)
|
rs1467416407
|
|
|
NM_002471.4(MYH6):c.1286C>A (p.Ala429Asp)
|
rs1891577982
|
|
|
NM_002471.4(MYH6):c.1301A>C (p.Glu434Ala)
|
rs758220970
|
|
|
NM_002471.4(MYH6):c.1334A>G (p.Asn445Ser)
|
|
|
|
NM_002471.4(MYH6):c.1348A>G (p.Thr450Ala)
|
|
|
|
NM_002471.4(MYH6):c.1372A>G (p.Ile458Val)
|
rs746698222
|
|
|
NM_002471.4(MYH6):c.1374_1375insT (p.Gly459fs)
|
rs1891574474
|
|
|
NM_002471.4(MYH6):c.1408G>A (p.Asp470Asn)
|
rs777651128
|
|
|
NM_002471.4(MYH6):c.1408G>C (p.Asp470His)
|
rs777651128
|
|
|
NM_002471.4(MYH6):c.1410+5G>A
|
|
|
|
NM_002471.4(MYH6):c.1434C>G (p.Cys478Trp)
|
|
|
|
NM_002471.4(MYH6):c.1450G>A (p.Glu484Lys)
|
rs1891562205
|
|
|
NM_002471.4(MYH6):c.1454A>T (p.Lys485Met)
|
rs1555334566
|
|
|
NM_002471.4(MYH6):c.1486G>C (p.Val496Leu)
|
rs761085263
|
|
|
NM_002471.4(MYH6):c.1489C>A (p.Leu497Met)
|
rs1315813996
|
|
|
NM_002471.4(MYH6):c.1500G>C (p.Glu500Asp)
|
rs372073959
|
|
|
NM_002471.4(MYH6):c.1502A>T (p.Glu501Val)
|
rs2138611609
|
|
|
NM_002471.4(MYH6):c.1513G>C (p.Glu505Gln)
|
|
|
|
NM_002471.4(MYH6):c.1514A>C (p.Glu505Ala)
|
rs1891560310
|
|
|
NM_002471.4(MYH6):c.1516G>C (p.Gly506Arg)
|
|
|
|
NM_002471.4(MYH6):c.1521T>G (p.Ile507Met)
|
rs142410102
|
|
|
NM_002471.4(MYH6):c.1522G>C (p.Glu508Gln)
|
|
|
|
NM_002471.4(MYH6):c.1528A>G (p.Thr510Ala)
|
rs1891559690
|
|
|
NM_002471.4(MYH6):c.1555C>A (p.Gln519Lys)
|
|
|
|
NM_002471.4(MYH6):c.1560del (p.Cys521fs)
|
rs1555334545
|
|
|
NM_002471.4(MYH6):c.15G>C (p.Gln5His)
|
|
|
|
NM_002471.4(MYH6):c.1606G>C (p.Glu536Gln)
|
|
|
|
NM_002471.4(MYH6):c.1607A>G (p.Glu536Gly)
|
rs1891517653
|
|
|
NM_002471.4(MYH6):c.1616G>A (p.Cys539Tyr)
|
rs750051592
|
|
|
NM_002471.4(MYH6):c.1616G>T (p.Cys539Phe)
|
rs750051592
|
|
|
NM_002471.4(MYH6):c.1617C>A (p.Cys539Ter)
|
rs1555334436
|
|
|
NM_002471.4(MYH6):c.1629G>A (p.Lys543=)
|
rs1891516873
|
|
|
NM_002471.4(MYH6):c.1633A>G (p.Thr545Ala)
|
|
|
|
NM_002471.4(MYH6):c.1637A>T (p.Asp546Val)
|
rs1290826704
|
|
|
NM_002471.4(MYH6):c.1640T>C (p.Met547Thr)
|
|
|
|
NM_002471.4(MYH6):c.1641G>C (p.Met547Ile)
|
rs1566513145
|
|
|
NM_002471.4(MYH6):c.1649dup (p.Ala551fs)
|
|
|
|
NM_002471.4(MYH6):c.1650G>C (p.Lys550Asn)
|
|
|
|
NM_002471.4(MYH6):c.1663_1665del (p.Asp555del)
|
|
|
|
NM_002471.4(MYH6):c.1672C>A (p.Leu558Met)
|
|
|
|
NM_002471.4(MYH6):c.1677C>T (p.Gly559=)
|
rs1555334431
|
|
|
NM_002471.4(MYH6):c.1708A>T (p.Ile570Phe)
|
rs1595060558
|
|
|
NM_002471.4(MYH6):c.1736C>T (p.Ser579Phe)
|
rs374180605
|
|
|
NM_002471.4(MYH6):c.173A>G (p.Lys58Arg)
|
rs1427899950
|
|
|
NM_002471.4(MYH6):c.174G>C (p.Lys58Asn)
|
|
|
|
NM_002471.4(MYH6):c.175G>C (p.Val59Leu)
|
rs377029781
|
|
|
NM_002471.4(MYH6):c.1793dup (p.Asn598fs)
|
rs774500922
|
|
|
NM_002471.4(MYH6):c.17T>C (p.Met6Thr)
|
rs1270444359
|
|
|
NM_002471.4(MYH6):c.1805T>C (p.Leu602Pro)
|
rs760815285
|
|
|
NM_002471.4(MYH6):c.1817T>C (p.Val606Ala)
|
|
|
|
NM_002471.4(MYH6):c.1840_1841delinsGT (p.Ser614Val)
|
rs1891507309
|
|
|
NM_002471.4(MYH6):c.184G>A (p.Glu62Lys)
|
rs1891810495
|
|
|
NM_002471.4(MYH6):c.1854G>A (p.Met618Ile)
|
|
|
|
NM_002471.4(MYH6):c.1868C>T (p.Ser623Phe)
|
rs764362016
|
|
|
NM_002471.4(MYH6):c.1868CCT[1] (p.Ser624del)
|
rs1183656896
|
|
|
NM_002471.4(MYH6):c.1876G>A (p.Ala626Thr)
|
|
|
|
NM_002471.4(MYH6):c.1880C>A (p.Thr627Asn)
|
|
|
|
NM_002471.4(MYH6):c.1891+1G>A
|
rs1595060385
|
|
|
NM_002471.4(MYH6):c.1892-11T>G
|
|
|
|
NM_002471.4(MYH6):c.1913G>C (p.Gly638Ala)
|
rs1060501430
|
|
|
NM_002471.4(MYH6):c.1921A>C (p.Lys641Gln)
|
rs768209175
|
|
|
NM_002471.4(MYH6):c.1943C>T (p.Thr648Met)
|
rs2138605581
|
|
|
NM_002471.4(MYH6):c.1949C>T (p.Ser650Leu)
|
rs372300127
|
|
|
NM_002471.4(MYH6):c.1958A>C (p.His653Pro)
|
rs201219066
|
|
|
NM_002471.4(MYH6):c.1999A>G (p.Thr667Ala)
|
|
|
|
NM_002471.4(MYH6):c.2002C>T (p.His668Tyr)
|
rs1351249262
|
|
|
NM_002471.4(MYH6):c.2012T>C (p.Phe671Ser)
|
|
|
|
NM_002471.4(MYH6):c.201G>C (p.Lys67Asn)
|
rs757559746
|
|
|
NM_002471.4(MYH6):c.202-3C>T
|
|
|
|
NM_002471.4(MYH6):c.2023A>G (p.Ile675Val)
|
rs1891424644
|
|
|
NM_002471.4(MYH6):c.2029C>T (p.Pro677Ser)
|
rs2138604951
|
|
|
NM_002471.4(MYH6):c.2038C>G (p.Arg680Gly)
|
|
|
|
NM_002471.4(MYH6):c.2058G>A (p.Met686Ile)
|
rs1280689085
|
|
|
NM_002471.4(MYH6):c.2068del (p.Leu690fs)
|
rs779614256
|
|
|
NM_002471.4(MYH6):c.2077C>T (p.His693Tyr)
|
rs2138604630
|
|
|
NM_002471.4(MYH6):c.212_213del (p.Val71fs)
|
rs1060501429
|
|
|
NM_002471.4(MYH6):c.2133C>A (p.Phe711Leu)
|
|
|
|
NM_002471.4(MYH6):c.2143A>G (p.Ile715Val)
|
|
|
|
NM_002471.4(MYH6):c.2143A>T (p.Ile715Phe)
|
rs772374378
|
|
|
NM_002471.4(MYH6):c.2168+1G>A
|
rs1366141531
|
|
|
NM_002471.4(MYH6):c.2168G>A (p.Arg723Lys)
|
|
|
|
NM_002471.4(MYH6):c.2169-2A>G
|
|
|
|
NM_002471.4(MYH6):c.2174G>T (p.Arg725Leu)
|
|
|
|
NM_002471.4(MYH6):c.2222G>A (p.Arg741Lys)
|
rs146414756
|
|
|
NM_002471.4(MYH6):c.222C>G (p.Asp74Glu)
|
|
|
|
NM_002471.4(MYH6):c.2257A>G (p.Ile753Val)
|
rs1891407295
|
|
|
NM_002471.4(MYH6):c.2292+17_2292+18inv
|
|
|
|
NM_002471.4(MYH6):c.2292+2T>C
|
rs745523742
|
|
|
NM_002471.4(MYH6):c.2332A>T (p.Met778Leu)
|
|
|
|
NM_002471.4(MYH6):c.2334G>A (p.Met778Ile)
|
|
|
|
NM_002471.4(MYH6):c.2338G>A (p.Asp780Asn)
|
|
|
|
NM_002471.4(MYH6):c.2359A>G (p.Ile787Val)
|
rs1283666600
|
|
|
NM_002471.4(MYH6):c.2361C>G (p.Ile787Met)
|
|
|
|
NM_002471.4(MYH6):c.2396T>C (p.Met799Thr)
|
rs1891392676
|
|
|
NM_002471.4(MYH6):c.2398C>A (p.Arg800Ser)
|
|
|
|
NM_002471.4(MYH6):c.2399G>T (p.Arg800Leu)
|
rs535438755
|
|
|
NM_002471.4(MYH6):c.239A>G (p.Asn80Ser)
|
rs2138620546
|
|
|
NM_002471.4(MYH6):c.2401A>T (p.Ile801Phe)
|
rs75487328
|
|
|
NM_002471.4(MYH6):c.2402T>C (p.Ile801Thr)
|
rs1447782770
|
|
|
NM_002471.4(MYH6):c.2406G>C (p.Glu802Asp)
|
rs1566511224
|
|
|
NM_002471.4(MYH6):c.2411A>G (p.Lys804Arg)
|
|
|
|
NM_002471.4(MYH6):c.2425C>T (p.Arg809Cys)
|
|
|
|
NM_002471.4(MYH6):c.2428A>G (p.Arg810Gly)
|
rs1060501428
|
|
|
NM_002471.4(MYH6):c.2440C>A (p.Leu814Met)
|
rs150675144
|
|
|
NM_002471.4(MYH6):c.2461C>T (p.Arg821Trp)
|
rs1348126724
|
|
|
NM_002471.4(MYH6):c.2486G>A (p.Trp829Ter)
|
rs1555334043
|
|
|
NM_002471.4(MYH6):c.2529_2530delinsCT (p.Lys843_Ser844delinsAsnCys)
|
rs2138599835
|
|
|
NM_002471.4(MYH6):c.2542G>A (p.Glu848Lys)
|
|
|
|
NM_002471.4(MYH6):c.2548G>A (p.Glu850Lys)
|
|
|
|
NM_002471.4(MYH6):c.2572T>G (p.Phe858Val)
|
rs2138599736
|
|
|
NM_002471.4(MYH6):c.2575G>A (p.Gly859Arg)
|
rs369274077
|
|
|
NM_002471.4(MYH6):c.2575G>T (p.Gly859Trp)
|
rs369274077
|
|
|
NM_002471.4(MYH6):c.2578C>T (p.Arg860Cys)
|
rs1025146248
|
|
|
NM_002471.4(MYH6):c.2585A>G (p.Lys862Arg)
|
rs754237178
|
|
|
NM_002471.4(MYH6):c.2608G>C (p.Ala870Pro)
|
rs1475742505
|
|
|
NM_002471.4(MYH6):c.2608G>T (p.Ala870Ser)
|
rs1475742505
|
|
|
NM_002471.4(MYH6):c.2630AGA[1] (p.Lys878del)
|
|
|
|
NM_002471.4(MYH6):c.2653G>A (p.Glu885Lys)
|
|
|
|
NM_002471.4(MYH6):c.2653_2655del (p.Glu885del)
|
rs1891322319
|
|
|
NM_002471.4(MYH6):c.2658G>C (p.Lys886Asn)
|
rs749609972
|
|
|
NM_002471.4(MYH6):c.265G>A (p.Asp89Asn)
|
rs1289213430
|
|
|
NM_002471.4(MYH6):c.2664C>A (p.Asp888Glu)
|
|
|
|
NM_002471.4(MYH6):c.2677G>A (p.Val893Met)
|
rs1462413168
|
|
|
NM_002471.4(MYH6):c.2707G>A (p.Ala903Thr)
|
|
|
|
NM_002471.4(MYH6):c.2716C>A (p.Arg906Ser)
|
rs143928061
|
|
|
NM_002471.4(MYH6):c.2717G>A (p.Arg906His)
|
rs527636904
|
|
|
NM_002471.4(MYH6):c.2717G>T (p.Arg906Leu)
|
rs527636904
|
|
|
NM_002471.4(MYH6):c.2722G>C (p.Asp908His)
|
|
|
|
NM_002471.4(MYH6):c.2723A>G (p.Asp908Gly)
|
|
|
|
NM_002471.4(MYH6):c.2725C>A (p.Gln909Lys)
|
rs1566510145
|
|
|
NM_002471.4(MYH6):c.2737A>C (p.Asn913His)
|
rs2138599127
|
|
|
NM_002471.4(MYH6):c.2780G>A (p.Arg927Lys)
|
rs1891312617
|
|
|
NM_002471.4(MYH6):c.2797G>T (p.Glu933Ter)
|
rs2138598978
|
|
|
NM_002471.4(MYH6):c.2800A>G (p.Met934Val)
|
|
|
|
NM_002471.4(MYH6):c.2846G>A (p.Cys949Tyr)
|
|
|
|
NM_002471.4(MYH6):c.2852A>G (p.Glu951Gly)
|
rs1360691146
|
|
|
NM_002471.4(MYH6):c.2854C>T (p.Leu952Phe)
|
|
|
|
NM_002471.4(MYH6):c.2900A>G (p.Glu967Gly)
|
rs2138598751
|
|
|
NM_002471.4(MYH6):c.2915C>A (p.Ala972Glu)
|
rs1891307559
|
|
|
NM_002471.4(MYH6):c.2923A>T (p.Asn975Tyr)
|
rs2138598703
|
|
|
NM_002471.4(MYH6):c.2929-5G>A
|
|
|
|
NM_002471.4(MYH6):c.2929G>A (p.Val977Met)
|
rs141079114
|
|
|
NM_002471.4(MYH6):c.2938C>G (p.Leu980Val)
|
|
|
|
NM_002471.4(MYH6):c.2942C>T (p.Thr981Ile)
|
|
|
|
NM_002471.4(MYH6):c.2947G>A (p.Glu983Lys)
|
|
|
|
NM_002471.4(MYH6):c.2957G>A (p.Gly986Glu)
|
rs1369680809
|
|
|
NM_002471.4(MYH6):c.2959C>G (p.Leu987Val)
|
|
|
|
NM_002471.4(MYH6):c.2964T>A (p.Asp988Glu)
|
|
|
|
NM_002471.4(MYH6):c.3009G>C (p.Glu1003Asp)
|
|
|
|
NM_002471.4(MYH6):c.3010G>A (p.Ala1004Thr)
|
|
|
|
NM_002471.4(MYH6):c.3016C>G (p.Gln1006Glu)
|
|
|
|
NM_002471.4(MYH6):c.3039G>A (p.Gln1013=)
|
|
|
|
NM_002471.4(MYH6):c.3049G>A (p.Asp1017Asn)
|
rs1555333948
|
|
|
NM_002471.4(MYH6):c.304C>A (p.Leu102Ile)
|
|
|
|
NM_002471.4(MYH6):c.3055G>T (p.Val1019Phe)
|
rs1595056123
|
|
|
NM_002471.4(MYH6):c.3069del (p.Lys1024fs)
|
|
|
|
NM_002471.4(MYH6):c.3078G>T (p.Lys1026Asn)
|
|
|
|
NM_002471.4(MYH6):c.3079G>A (p.Val1027Ile)
|
|
|
|
NM_002471.4(MYH6):c.308T>G (p.Phe103Cys)
|
|
|
|
NM_002471.4(MYH6):c.3107dup (p.Glu1037fs)
|
rs2138597640
|
|
|
NM_002471.4(MYH6):c.310A>C (p.Asn104His)
|
rs2138620434
|
|
|
NM_002471.4(MYH6):c.3127G>A (p.Glu1043Lys)
|
rs560776256
|
|
|
NM_002471.4(MYH6):c.3129G>C (p.Glu1043Asp)
|
rs1049328399
|
|
|
NM_002471.4(MYH6):c.3147C>G (p.Asp1049Glu)
|
|
|
|
NM_002471.4(MYH6):c.3175G>A (p.Gly1059Ser)
|
rs1595055803
|
|
|
NM_002471.4(MYH6):c.3196G>A (p.Glu1066Lys)
|
|
|
|
NM_002471.4(MYH6):c.319del (p.Glu107fs)
|
|
|
|
NM_002471.4(MYH6):c.3203T>C (p.Ile1068Thr)
|
rs777320756
|
|
|
NM_002471.4(MYH6):c.3206T>A (p.Met1069Lys)
|
rs2138597373
|
|
|
NM_002471.4(MYH6):c.3209A>G (p.Asp1070Gly)
|
rs2138597363
|
|
|
NM_002471.4(MYH6):c.3244C>T (p.Leu1082Phe)
|
|
|
|
NM_002471.4(MYH6):c.3251+11_3251+12insAAGAAGTAGGAGACTGCTTTTTTTCATTCCCGTTGTTATGGAGGGCCACATCTGCCAGAGCCTGGAGTCTGCGAAGGCCGGGACCCGGTTCCCCGGCCCACAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA
|
rs2138597251
|
|
|
NM_002471.4(MYH6):c.3257A>G (p.Glu1086Gly)
|
|
|
|
NM_002471.4(MYH6):c.325T>C (p.Tyr109His)
|
rs926609805
|
|
|
NM_002471.4(MYH6):c.3277A>G (p.Asn1093Asp)
|
|
|
|
NM_002471.4(MYH6):c.3284A>T (p.Lys1095Met)
|
rs1184174539
|
|
|
NM_002471.4(MYH6):c.3322A>G (p.Lys1108Glu)
|
rs2138596600
|
|
|
NM_002471.4(MYH6):c.3334_3335dup (p.Asn1113fs)
|
|
|
|
NM_002471.4(MYH6):c.3346C>T (p.Arg1116Cys)
|
rs372446459
|
|
|
NM_002471.4(MYH6):c.3350T>G (p.Ile1117Ser)
|
|
|
|
NM_002471.4(MYH6):c.3352G>A (p.Glu1118Lys)
|
rs750174797
|
|
|
NM_002471.4(MYH6):c.3379G>A (p.Glu1127Lys)
|
|
|
|
NM_002471.4(MYH6):c.33del (p.Ala12fs)
|
rs1891817183
|
|
|
NM_002471.4(MYH6):c.3408G>T (p.Lys1136Asn)
|
rs28730770
|
|
|
NM_002471.4(MYH6):c.3412C>T (p.Arg1138Cys)
|
rs1368246967
|
|
|
NM_002471.4(MYH6):c.3428G>A (p.Arg1143Gln)
|
rs543585784
|
|
|
NM_002471.4(MYH6):c.3437dup (p.Glu1147fs)
|
rs397516761
|
|
|
NM_002471.4(MYH6):c.346-3C>T
|
rs1017238152
|
|
|
NM_002471.4(MYH6):c.3472G>T (p.Ala1158Ser)
|
rs751768285
|
|
|
NM_002471.4(MYH6):c.3479C>A (p.Ser1160Tyr)
|
rs750502101
|
|
|
NM_002471.4(MYH6):c.3489C>G (p.Ile1163Met)
|
rs764540332
|
|
|
NM_002471.4(MYH6):c.3490G>A (p.Glu1164Lys)
|
rs1466179689
|
|
|
NM_002471.4(MYH6):c.3514G>A (p.Glu1172Lys)
|
|
|
|
NM_002471.4(MYH6):c.3529C>G (p.Arg1177Gly)
|
rs747978305
|
|
|
NM_002471.4(MYH6):c.3531del (p.Arg1178fs)
|
rs778757030
|
|
|
NM_002471.4(MYH6):c.3541G>A (p.Glu1181Lys)
|
rs1033416176
|
|
|
NM_002471.4(MYH6):c.3541G>C (p.Glu1181Gln)
|
rs1033416176
|
|
|
NM_002471.4(MYH6):c.3542A>T (p.Glu1181Val)
|
|
|
|
NM_002471.4(MYH6):c.3550A>G (p.Thr1184Ala)
|
|
|
|
NM_002471.4(MYH6):c.3561C>A (p.His1187Gln)
|
|
|
|
NM_002471.4(MYH6):c.3562G>A (p.Glu1188Lys)
|
rs767223211
|
|
|
NM_002471.4(MYH6):c.3573dup (p.Ala1192fs)
|
rs2138592836
|
|
|
NM_002471.4(MYH6):c.3578C>T (p.Ala1193Val)
|
rs1038940910
|
|
|
NM_002471.4(MYH6):c.358C>G (p.Leu120Val)
|
|
|
|
NM_002471.4(MYH6):c.358C>T (p.Leu120Phe)
|
|
|
|
NM_002471.4(MYH6):c.3598G>A (p.Asp1200Asn)
|
rs372794975
|
|
|
NM_002471.4(MYH6):c.3598_3600del (p.Asp1200del)
|
|
|
|
NM_002471.4(MYH6):c.3607dup (p.Ala1203fs)
|
rs1114167343
|
|
|
NM_002471.4(MYH6):c.3616G>A (p.Gly1206Ser)
|
|
|
|
NM_002471.4(MYH6):c.3628G>A (p.Asp1210Asn)
|
|
|
|
NM_002471.4(MYH6):c.3641G>A (p.Arg1214Gln)
|
|
|
|
NM_002471.4(MYH6):c.3651G>C (p.Gln1217His)
|
|
|
|
NM_002471.4(MYH6):c.3653A>C (p.Lys1218Thr)
|
|
|
|
NM_002471.4(MYH6):c.3660G>C (p.Glu1220Asp)
|
|
|
|
NM_002471.4(MYH6):c.3671G>A (p.Ser1224Asn)
|
rs1342875025
|
|
|
NM_002471.4(MYH6):c.3701C>T (p.Thr1234Ile)
|
|
|
|
NM_002471.4(MYH6):c.3715C>G (p.Gln1239Glu)
|
|
|
|
NM_002471.4(MYH6):c.3731_3732+3del
|
rs1891184313
|
|
|
NM_002471.4(MYH6):c.3732+5G>C
|
rs1891184026
|
|
|
NM_002471.4(MYH6):c.373G>C (p.Val125Leu)
|
|
|
|
NM_002471.4(MYH6):c.3749T>C (p.Val1250Ala)
|
rs767409017
|
|
|
NM_002471.4(MYH6):c.3754C>T (p.Arg1252Trp)
|
rs2138591811
|
|
|
NM_002471.4(MYH6):c.3761T>C (p.Leu1254Pro)
|
rs2138591782
|
|
|
NM_002471.4(MYH6):c.3763G>C (p.Glu1255Gln)
|
rs1595053286
|
|
|
NM_002471.4(MYH6):c.3775A>G (p.Asn1259Asp)
|
|
|
|
NM_002471.4(MYH6):c.3787G>T (p.Val1263Leu)
|
rs375819633
|
|
|
NM_002471.4(MYH6):c.379C>G (p.Pro127Ala)
|
rs1555335108
|
|
|
NM_002471.4(MYH6):c.3802G>A (p.Ala1268Thr)
|
rs777331087
|
|
|
NM_002471.4(MYH6):c.3818A>G (p.Asn1273Ser)
|
rs1383779893
|
|
|
NM_002471.4(MYH6):c.3858T>C (p.Asn1286=)
|
rs774702449
|
|
|
NM_002471.4(MYH6):c.3859+1G>A
|
|
|
|
NM_002471.4(MYH6):c.3859+1G>T
|
rs1481854092
|
|
|
NM_002471.4(MYH6):c.3859+3G>A
|
|
|
|
NM_002471.4(MYH6):c.3861dup (p.Glu1288fs)
|
|
|
|
NM_002471.4(MYH6):c.3890del (p.Glu1297fs)
|
rs1891159129
|
|
|
NM_002471.4(MYH6):c.3892G>A (p.Ala1298Thr)
|
|
|
|
NM_002471.4(MYH6):c.38C>T (p.Ala13Val)
|
rs1555335309
|
|
|
NM_002471.4(MYH6):c.3914G>A (p.Arg1305Gln)
|
|
|
|
NM_002471.4(MYH6):c.3953_3978+2dup
|
|
|
|
NM_002471.4(MYH6):c.395C>T (p.Pro132Leu)
|
rs2046697143
|
|
|
NM_002471.4(MYH6):c.3977A>G (p.Lys1326Arg)
|
|
|
|
NM_002471.4(MYH6):c.3979-11_3979-10delinsAA
|
|
|
|
NM_002471.4(MYH6):c.3995C>T (p.Ala1332Val)
|
rs876657876
|
|
|
NM_002471.4(MYH6):c.4015C>T (p.Arg1339Trp)
|
rs985894009
|
|
|
NM_002471.4(MYH6):c.4037G>A (p.Arg1346Gln)
|
|
|
|
NM_002471.4(MYH6):c.4039G>A (p.Glu1347Lys)
|
|
|
|
NM_002471.4(MYH6):c.4045T>A (p.Tyr1349Asn)
|
rs771192855
|
|
|
NM_002471.4(MYH6):c.4046A>C (p.Tyr1349Ser)
|
rs1595052310
|
|
|
NM_002471.4(MYH6):c.4047C>A (p.Tyr1349Ter)
|
rs570555040
|
|
|
NM_002471.4(MYH6):c.4081C>T (p.Arg1361Cys)
|
|
|
|
NM_002471.4(MYH6):c.4087C>A (p.Leu1363Met)
|
|
|
|
NM_002471.4(MYH6):c.4094A>G (p.Lys1365Arg)
|
|
|
|
NM_002471.4(MYH6):c.4103C>T (p.Ser1368Leu)
|
rs778374207
|
|
|
NM_002471.4(MYH6):c.4116G>C (p.Gln1372His)
|
rs1891132382
|
|
|
NM_002471.4(MYH6):c.4122G>T (p.Arg1374Ser)
|
|
|
|
NM_002471.4(MYH6):c.4144A>G (p.Ile1382Val)
|
rs1555333536
|
|
|
NM_002471.4(MYH6):c.4171G>A (p.Ala1391Thr)
|
|
|
|
NM_002471.4(MYH6):c.4201G>A (p.Asp1401Asn)
|
|
|
|
NM_002471.4(MYH6):c.4202A>C (p.Asp1401Ala)
|
rs2138588749
|
|
|
NM_002471.4(MYH6):c.4207G>A (p.Glu1403Lys)
|
rs769398160
|
|
|
NM_002471.4(MYH6):c.4212G>T (p.Glu1404Asp)
|
rs2138588709
|
|
|
NM_002471.4(MYH6):c.4214_4215insAGCAGGC (p.Val1406fs)
|
rs1891103132
|
|
|
NM_002471.4(MYH6):c.4226T>C (p.Val1409Ala)
|
|
|
|
NM_002471.4(MYH6):c.4231G>A (p.Ala1411Thr)
|
|
|
|
NM_002471.4(MYH6):c.4232C>A (p.Ala1411Asp)
|
rs2138588665
|
|
|
NM_002471.4(MYH6):c.4250A>G (p.Glu1417Gly)
|
rs1595051406
|
|
|
NM_002471.4(MYH6):c.4256C>A (p.Thr1419Asn)
|
|
|
|
NM_002471.4(MYH6):c.4265G>T (p.Arg1422Leu)
|
rs574433291
|
|
|
NM_002471.4(MYH6):c.427C>T (p.Arg143Trp)
|
rs2277473
|
|
|
NM_002471.4(MYH6):c.4283A>G (p.Glu1428Gly)
|
|
|
|
NM_002471.4(MYH6):c.4284G>T (p.Glu1428Asp)
|
|
|
|
NM_002471.4(MYH6):c.4285G>T (p.Asp1429Tyr)
|
|
|
|
NM_002471.4(MYH6):c.4289T>C (p.Leu1430Ser)
|
|
|
|
NM_002471.4(MYH6):c.4294G>A (p.Val1432Met)
|
rs537640599
|
|
|
NM_002471.4(MYH6):c.4306C>T (p.Arg1436Cys)
|
rs746893658
|
|
|
NM_002471.4(MYH6):c.4313A>G (p.Asn1438Ser)
|
rs745683537
|
|
|
NM_002471.4(MYH6):c.4318G>C (p.Ala1440Pro)
|
rs137983703
|
|
|
NM_002471.4(MYH6):c.431G>A (p.Gly144Asp)
|
rs199923533
|
|
|
NM_002471.4(MYH6):c.4352_4353del (p.Asn1450_Phe1451insTer)
|
rs2138588431
|
|
|
NM_002471.4(MYH6):c.4359+13_4359+14delinsTA
|
|
|
|
NM_002471.4(MYH6):c.4359+1del
|
rs2138588421
|
|
|
NM_002471.4(MYH6):c.4360-2del
|
rs1891086272
|
|
|
NM_002471.4(MYH6):c.4360-3C>T
|
|
|
|
NM_002471.4(MYH6):c.437A>G (p.Lys146Arg)
|
rs1555335081
|
|
|
NM_002471.4(MYH6):c.4390_4391inv (p.Glu1464Ser)
|
|
|
|
NM_002471.4(MYH6):c.4391A>G (p.Glu1464Gly)
|
rs370412856
|
|
|
NM_002471.4(MYH6):c.4395_4396delinsAG (p.Gln1466Glu)
|
rs1555333437
|
|
|
NM_002471.4(MYH6):c.4404G>C (p.Glu1468Asp)
|
|
|
|
NM_002471.4(MYH6):c.4405C>A (p.Leu1469Met)
|
|
|
|
NM_002471.4(MYH6):c.4408G>C (p.Glu1470Gln)
|
rs1555333429
|
|
|
NM_002471.4(MYH6):c.440G>A (p.Arg147Lys)
|
|
|
|
NM_002471.4(MYH6):c.4418A>G (p.Gln1473Arg)
|
|
|
|
NM_002471.4(MYH6):c.4427C>T (p.Ala1476Val)
|
|
|
|
NM_002471.4(MYH6):c.4429C>G (p.Arg1477Gly)
|
rs201989347
|
|
|
NM_002471.4(MYH6):c.4429C>T (p.Arg1477Cys)
|
rs201989347
|
|
|
NM_002471.4(MYH6):c.4430G>A (p.Arg1477His)
|
rs147586142
|
|
|
NM_002471.4(MYH6):c.4430G>T (p.Arg1477Leu)
|
rs147586142
|
|
|
NM_002471.4(MYH6):c.4445A>G (p.Glu1482Gly)
|
|
|
|
NM_002471.4(MYH6):c.4455G>T (p.Lys1485Asn)
|
|
|
|
NM_002471.4(MYH6):c.449C>A (p.Ala150Asp)
|
rs879175179
|
|
|
NM_002471.4(MYH6):c.449C>G (p.Ala150Gly)
|
rs879175179
|
|
|
NM_002471.4(MYH6):c.4502A>G (p.Lys1501Arg)
|
rs1595050790
|
|
|
NM_002471.4(MYH6):c.4504C>T (p.Arg1502Trp)
|
rs773631723
|
|
|
NM_002471.4(MYH6):c.4507G>A (p.Glu1503Lys)
|
rs1381595537
|
|
|
NM_002471.4(MYH6):c.4508A>T (p.Glu1503Val)
|
|
|
|
NM_002471.4(MYH6):c.4512C>A (p.Asn1504Lys)
|
|
|
|
NM_002471.4(MYH6):c.4514A>G (p.Lys1505Arg)
|
|
|
|
NM_002471.4(MYH6):c.451C>T (p.Pro151Ser)
|
rs1595064466
|
|
|
NM_002471.4(MYH6):c.4526-7T>G
|
|
|
|
NM_002471.4(MYH6):c.4526-9G>A
|
|
|
|
NM_002471.4(MYH6):c.4572T>G (p.Asn1524Lys)
|
|
|
|
NM_002471.4(MYH6):c.4595G>A (p.Arg1532His)
|
rs34330111
|
|
|
NM_002471.4(MYH6):c.4609G>A (p.Val1537Met)
|
|
|
|
NM_002471.4(MYH6):c.4625T>A (p.Leu1542Gln)
|
rs1595050469
|
|
|
NM_002471.4(MYH6):c.4629G>C (p.Gln1543His)
|
rs1177280918
|
|
|
NM_002471.4(MYH6):c.4644G>T (p.Glu1548Asp)
|
|
|
|
NM_002471.4(MYH6):c.4645G>A (p.Ala1549Thr)
|
rs1342437470
|
|
|
NM_002471.4(MYH6):c.4650G>A (p.Glu1550=)
|
rs1891067176
|
|
|
NM_002471.4(MYH6):c.4667A>G (p.Glu1556Gly)
|
|
|
|
NM_002471.4(MYH6):c.4673G>T (p.Gly1558Val)
|
rs1276524636
|
|
|
NM_002471.4(MYH6):c.4685G>T (p.Arg1562Leu)
|
rs371068881
|
|
|
NM_002471.4(MYH6):c.4687G>T (p.Ala1563Ser)
|
|
|
|
NM_002471.4(MYH6):c.4691A>G (p.Gln1564Arg)
|
rs1195354569
|
|
|
NM_002471.4(MYH6):c.4708A>G (p.Ile1570Val)
|
rs1258827113
|
|
|
NM_002471.4(MYH6):c.4726C>T (p.Arg1576Trp)
|
|
|
|
NM_002471.4(MYH6):c.4735G>A (p.Ala1579Thr)
|
rs1333346577
|
|
|
NM_002471.4(MYH6):c.4755G>A (p.Met1585Ile)
|
rs1060501427
|
|
|
NM_002471.4(MYH6):c.4759C>T (p.Gln1587Ter)
|
|
|
|
NM_002471.4(MYH6):c.475G>A (p.Asp159Asn)
|
|
|
|
NM_002471.4(MYH6):c.4763C>G (p.Ala1588Gly)
|
|
|
|
NM_002471.4(MYH6):c.4763C>T (p.Ala1588Val)
|
|
|
|
NM_002471.4(MYH6):c.4791C>A (p.Asp1597Glu)
|
rs761627508
|
|
|
NM_002471.4(MYH6):c.4792_4793delinsCG (p.Ser1598Arg)
|
rs2138585182
|
|
|
NM_002471.4(MYH6):c.4804T>G (p.Ser1602Ala)
|
|
|
|
NM_002471.4(MYH6):c.4812T>G (p.Asp1604Glu)
|
rs201667127
|
|
|
NM_002471.4(MYH6):c.4817A>T (p.Glu1606Val)
|
|
|
|
NM_002471.4(MYH6):c.4820C>T (p.Thr1607Ile)
|
|
|
|
NM_002471.4(MYH6):c.4821_4822del (p.Arg1608fs)
|
rs764543612
|
|
|
NM_002471.4(MYH6):c.4846G>C (p.Val1616Leu)
|
rs372923261
|
|
|
NM_002471.4(MYH6):c.4850A>C (p.Lys1617Thr)
|
|
|
|
NM_002471.4(MYH6):c.4854G>C (p.Lys1618Asn)
|
rs766153681
|
|
|
NM_002471.4(MYH6):c.4884G>T (p.Glu1628Asp)
|
rs1891022943
|
|
|
NM_002471.4(MYH6):c.4885A>G (p.Ile1629Val)
|
|
|
|
NM_002471.4(MYH6):c.4914_4915inv (p.Ala1639Thr)
|
|
|
|
NM_002471.4(MYH6):c.4920G>C (p.Glu1640Asp)
|
rs777323881
|
|
|
NM_002471.4(MYH6):c.4922C>T (p.Ala1641Val)
|
|
|
|
NM_002471.4(MYH6):c.4925A>C (p.Gln1642Pro)
|
rs1487346307
|
|
|
NM_002471.4(MYH6):c.4928A>C (p.Lys1643Thr)
|
|
|
|
NM_002471.4(MYH6):c.4930C>G (p.Gln1644Glu)
|
|
|
|
NM_002471.4(MYH6):c.4941C>G (p.Ser1647Arg)
|
rs2138584877
|
|
|
NM_002471.4(MYH6):c.4945C>T (p.Gln1649Ter)
|
|
|
|
NM_002471.4(MYH6):c.4948A>G (p.Ser1650Gly)
|
rs1595049396
|
|
|
NM_002471.4(MYH6):c.4960G>A (p.Asp1654Asn)
|
|
|
|
NM_002471.4(MYH6):c.5002G>C (p.Asp1668His)
|
rs200884672
|
|
|
NM_002471.4(MYH6):c.502+1G>C
|
|
|
|
NM_002471.4(MYH6):c.502G>C (p.Asp168His)
|
|
|
|
NM_002471.4(MYH6):c.5045T>C (p.Leu1682Pro)
|
rs2138584230
|
|
|
NM_002471.4(MYH6):c.5046dup (p.Leu1683fs)
|
|
|
|
NM_002471.4(MYH6):c.5062G>A (p.Glu1688Lys)
|
rs727504739
|
|
|
NM_002471.4(MYH6):c.5069T>G (p.Leu1690Arg)
|
rs1421693475
|
|
|
NM_002471.4(MYH6):c.50G>A (p.Arg17His)
|
|
|
|
NM_002471.4(MYH6):c.50G>T (p.Arg17Leu)
|
rs746646172
|
|
|
NM_002471.4(MYH6):c.5128G>A (p.Glu1710Lys)
|
rs1595048900
|
|
|
NM_002471.4(MYH6):c.5130G>T (p.Glu1710Asp)
|
|
|
|
NM_002471.4(MYH6):c.5137G>C (p.Glu1713Gln)
|
rs369275573
|
|
|
NM_002471.4(MYH6):c.5140C>T (p.Arg1714Trp)
|
rs140651265
|
|
|
NM_002471.4(MYH6):c.5141G>A (p.Arg1714Gln)
|
|
|
|
NM_002471.4(MYH6):c.5161C>T (p.Gln1721Ter)
|
rs2138583963
|
|
|
NM_002471.4(MYH6):c.5164A>C (p.Asn1722His)
|
rs889866809
|
|
|
NM_002471.4(MYH6):c.5177T>G (p.Ile1726Ser)
|
rs1304636038
|
|
|
NM_002471.4(MYH6):c.5192A>T (p.Lys1731Met)
|
rs757373258
|
|
|
NM_002471.4(MYH6):c.5222C>T (p.Ser1741Leu)
|
rs1437586718
|
|
|
NM_002471.4(MYH6):c.5228T>C (p.Val1743Ala)
|
rs1206864440
|
|
|
NM_002471.4(MYH6):c.5244G>C (p.Gln1748His)
|
rs2138582351
|
|
|
NM_002471.4(MYH6):c.5248T>G (p.Cys1750Gly)
|
|
|
|
NM_002471.4(MYH6):c.5258C>A (p.Ala1753Asp)
|
|
|
|
NM_002471.4(MYH6):c.5260G>A (p.Glu1754Lys)
|
rs372270600
|
|
|
NM_002471.4(MYH6):c.5260G>C (p.Glu1754Gln)
|
rs372270600
|
|
|
NM_002471.4(MYH6):c.5260G>T (p.Glu1754Ter)
|
rs372270600
|
|
|
NM_002471.4(MYH6):c.5264A>G (p.Glu1755Gly)
|
rs2138582278
|
|
|
NM_002471.4(MYH6):c.5289+1G>C
|
|
|
|
NM_002471.4(MYH6):c.5289+5G>A
|
rs1890974360
|
|
|
NM_002471.4(MYH6):c.5290G>A (p.Ala1764Thr)
|
|
|
|
NM_002471.4(MYH6):c.5293G>T (p.Ala1765Ser)
|
rs397516775
|
|
|
NM_002471.4(MYH6):c.530+3G>A
|
|
|
|
NM_002471.4(MYH6):c.531G>A (p.Thr177=)
|
|
|
|
NM_002471.4(MYH6):c.5338C>T (p.His1780Tyr)
|
rs1046257632
|
|
|
NM_002471.4(MYH6):c.5392C>T (p.Arg1798Trp)
|
rs767251436
|
|
|
NM_002471.4(MYH6):c.5435dup (p.Gln1813fs)
|
rs1324433778
|
|
|
NM_002471.4(MYH6):c.5437C>G (p.Gln1813Glu)
|
rs368384248
|
|
|
NM_002471.4(MYH6):c.5462T>G (p.Val1821Gly)
|
rs1890959930
|
|
|
NM_002471.4(MYH6):c.5465G>A (p.Arg1822Gln)
|
rs1298835458
|
|
|
NM_002471.4(MYH6):c.5475G>C (p.Glu1825Asp)
|
|
|
|
NM_002471.4(MYH6):c.5476G>C (p.Gly1826Arg)
|
rs202141059
|
|
|
NM_002471.4(MYH6):c.5476_5477delinsAA (p.Gly1826Asn)
|
rs878854502
|
|
|
NM_002471.4(MYH6):c.5477G>T (p.Gly1826Val)
|
rs200260229
|
|
|
NM_002471.4(MYH6):c.5488G>A (p.Ala1830Thr)
|
rs1250778572
|
|
|
NM_002471.4(MYH6):c.5501G>T (p.Arg1834Leu)
|
|
|
|
NM_002471.4(MYH6):c.5515G>T (p.Val1839Leu)
|
rs754865673
|
|
|
NM_002471.4(MYH6):c.5524A>T (p.Met1842Leu)
|
rs754070802
|
|
|
NM_002471.4(MYH6):c.5539C>G (p.Arg1847Gly)
|
rs752718246
|
|
|
NM_002471.4(MYH6):c.5549A>G (p.Lys1850Arg)
|
|
|
|
NM_002471.4(MYH6):c.5563C>T (p.Gln1855Ter)
|
|
|
|
NM_002471.4(MYH6):c.5565+3G>T
|
|
|
|
NM_002471.4(MYH6):c.5628G>T (p.Lys1876Asn)
|
rs1390751455
|
|
|
NM_002471.4(MYH6):c.5644C>T (p.Arg1882Cys)
|
|
|
|
NM_002471.4(MYH6):c.5654A>G (p.Glu1885Gly)
|
|
|
|
NM_002471.4(MYH6):c.5662G>A (p.Glu1888Lys)
|
rs947393801
|
|
|
NM_002471.4(MYH6):c.5667G>C (p.Glu1889Asp)
|
|
|
|
NM_002471.4(MYH6):c.5674A>T (p.Asn1892Tyr)
|
|
|
|
NM_002471.4(MYH6):c.5687C>T (p.Ser1896Phe)
|
rs1209697861
|
|
|
NM_002471.4(MYH6):c.5692T>C (p.Phe1898Leu)
|
rs762923098
|
|
|
NM_002471.4(MYH6):c.569G>A (p.Arg190His)
|
rs1891729151
|
|
|
NM_002471.4(MYH6):c.5706G>T (p.Gln1902His)
|
|
|
|
NM_002471.4(MYH6):c.5710G>C (p.Glu1904Gln)
|
rs1057518591
|
|
|
NM_002471.4(MYH6):c.5759A>G (p.Asn1920Ser)
|
rs539827027
|
|
|
NM_002471.4(MYH6):c.5780G>A (p.Arg1927His)
|
rs730880152
|
|
|
NM_002471.4(MYH6):c.5782G>A (p.Asp1928Asn)
|
|
|
|
NM_002471.4(MYH6):c.5785A>G (p.Ile1929Val)
|
rs1890889294
|
|
|
NM_002471.4(MYH6):c.5788G>A (p.Gly1930Ser)
|
rs761796189
|
|
|
NM_002471.4(MYH6):c.5797-1G>A
|
|
|
|
NM_002471.4(MYH6):c.5805G>A (p.Met1935Ile)
|
|
|
|
NM_002471.4(MYH6):c.616AAG[1] (p.Lys207del)
|
rs1404018896
|
|
|
NM_002471.4(MYH6):c.642+1G>T
|
rs199989693
|
|
|
NM_002471.4(MYH6):c.642+3G>A
|
rs374013248
|
|
|
NM_002471.4(MYH6):c.643-1G>A
|
|
|
|
NM_002471.4(MYH6):c.644G>T (p.Gly215Val)
|
|
|
|
NM_002471.4(MYH6):c.647C>A (p.Thr216Asn)
|
rs1448960877
|
|
|
NM_002471.4(MYH6):c.64G>A (p.Glu22Lys)
|
rs2138622800
|
|
|
NM_002471.4(MYH6):c.677C>G (p.Pro226Arg)
|
|
|
|
NM_002471.4(MYH6):c.68_83del (p.Arg23fs)
|
rs1486297751
|
|
|
NM_002471.4(MYH6):c.707C>A (p.Thr236Asn)
|
rs1566515919
|
|
|
NM_002471.4(MYH6):c.718G>A (p.Asp240Asn)
|
|
|
|
NM_002471.4(MYH6):c.730C>G (p.Arg244Gly)
|
rs759116118
|
|
|
NM_002471.4(MYH6):c.730C>T (p.Arg244Cys)
|
rs759116118
|
|
|
NM_002471.4(MYH6):c.736-1G>A
|
rs915107695
|
|
|
NM_002471.4(MYH6):c.736-6C>A
|
rs1891687633
|
|
|
NM_002471.4(MYH6):c.751A>T (p.Ile251Phe)
|
rs1891686776
|
|
|
NM_002471.4(MYH6):c.754C>T (p.His252Tyr)
|
rs1595063510
|
|
|
NM_002471.4(MYH6):c.776T>C (p.Leu259Pro)
|
|
|
|
NM_002471.4(MYH6):c.778G>C (p.Ala260Pro)
|
rs1332026608
|
|
|
NM_002471.4(MYH6):c.806del (p.Leu269fs)
|
|
|
|
NM_002471.4(MYH6):c.820G>A (p.Val274Met)
|
|
|
|
NM_002471.4(MYH6):c.824T>C (p.Ile275Thr)
|
rs201327273
|
|
|
NM_002471.4(MYH6):c.856A>G (p.Ile286Val)
|
rs1566515400
|
|
|
NM_002471.4(MYH6):c.864C>G (p.Tyr288Ter)
|
rs186265521
|
|
|
NM_002471.4(MYH6):c.86G>T (p.Arg29Leu)
|
rs150574114
|
|
|
NM_002471.4(MYH6):c.887C>T (p.Pro296Leu)
|
|
|
|
NM_002471.4(MYH6):c.898+6C>A
|
rs370158816
|
|
|
NM_002471.4(MYH6):c.898+6C>G
|
rs370158816
|
|
|
NM_002471.4(MYH6):c.898+6C>T
|
rs370158816
|
|
|
NM_002471.4(MYH6):c.940G>C (p.Val314Leu)
|
|
|
|
NM_002471.4(MYH6):c.952G>C (p.Glu318Gln)
|
rs1891645604
|
|
|
NM_002471.4(MYH6):c.967T>C (p.Ser323Pro)
|
|
|
|
NM_002471.4(MYH6):c.968C>G (p.Ser323Cys)
|
|
|
|
NM_002471.4(MYH6):c.973G>C (p.Asp325His)
|
rs1891644653
|
|
|
NM_002471.4(MYH6):c.981C>A (p.Ser327=)
|
|
|
|
NM_002471.4(MYH6):c.994G>A (p.Ala332Thr)
|
|
|
|
NM_002633.3(PGM1):c.1014T>A (p.Ser338Arg)
|
rs1553121290
|
|
|
NM_002633.3(PGM1):c.1019C>G (p.Ala340Gly)
|
|
|
|
NM_002633.3(PGM1):c.1058A>G (p.Tyr353Cys)
|
|
|
|
NM_002633.3(PGM1):c.1067C>T (p.Pro356Leu)
|
|
|
|
NM_002633.3(PGM1):c.107C>A (p.Ala36Glu)
|
rs146477640
|
|
|
NM_002633.3(PGM1):c.107C>T (p.Ala36Val)
|
|
|
|
NM_002633.3(PGM1):c.1081T>A (p.Phe361Ile)
|
|
|
|
NM_002633.3(PGM1):c.1083T>C (p.Phe361=)
|
|
|
|
NM_002633.3(PGM1):c.1106G>A (p.Ser369Asn)
|
|
|
|
NM_002633.3(PGM1):c.1115C>T (p.Ser372Phe)
|
|
|
|
NM_002633.3(PGM1):c.1141A>G (p.Thr381Ala)
|
|
|
|
NM_002633.3(PGM1):c.1144G>A (p.Gly382Ser)
|
|
|
|
NM_002633.3(PGM1):c.119T>C (p.Ile40Thr)
|
|
|
|
NM_002633.3(PGM1):c.1201A>G (p.Ile401Val)
|
rs760318393
|
|
|
NM_002633.3(PGM1):c.1204C>G (p.Leu402Val)
|
|
|
|
NM_002633.3(PGM1):c.120C>G (p.Ile40Met)
|
|
|
|
NM_002633.3(PGM1):c.1213C>A (p.Arg405Ser)
|
rs754131603
|
|
|
NM_002633.3(PGM1):c.1234A>C (p.Ile412Leu)
|
rs567337429
|
|
|
NM_002633.3(PGM1):c.125G>A (p.Ser42Asn)
|
rs374207269
|
|
|
NM_002633.3(PGM1):c.1291G>A (p.Glu431Lys)
|
|
|
|
NM_002633.3(PGM1):c.1312G>A (p.Ala438Thr)
|
|
|
|
NM_002633.3(PGM1):c.134C>T (p.Ser45Phe)
|
|
|
|
NM_002633.3(PGM1):c.1358C>G (p.Ser453Cys)
|
|
|
|
NM_002633.3(PGM1):c.1394T>A (p.Val465Asp)
|
|
|
|
NM_002633.3(PGM1):c.1411G>A (p.Ala471Thr)
|
rs148979330
|
|
|
NM_002633.3(PGM1):c.1464+14_1464+15delinsTA
|
|
|
|
NM_002633.3(PGM1):c.1464+19G>C
|
|
|
|
NM_002633.3(PGM1):c.1523G>A (p.Gly508Glu)
|
|
|
|
NM_002633.3(PGM1):c.152A>G (p.Gln51Arg)
|
|
|
|
NM_002633.3(PGM1):c.1538C>T (p.Thr513Ile)
|
|
|
|
NM_002633.3(PGM1):c.1555G>A (p.Asp519Asn)
|
|
|
|
NM_002633.3(PGM1):c.155G>A (p.Arg52Gln)
|
rs377179134
|
|
|
NM_002633.3(PGM1):c.1573G>A (p.Val525Ile)
|
|
|
|
NM_002633.3(PGM1):c.1585A>T (p.Asn529Tyr)
|
|
|
|
NM_002633.3(PGM1):c.1599+5C>T
|
|
|
|
NM_002633.3(PGM1):c.1599+6G>A
|
|
|
|
NM_002633.3(PGM1):c.1599+6G>T
|
|
|
|
NM_002633.3(PGM1):c.1664G>A (p.Arg555His)
|
|
|
|
NM_002633.3(PGM1):c.1678G>A (p.Val560Ile)
|
rs1650066188
|
|
|
NM_002633.3(PGM1):c.184G>C (p.Asp62His)
|
rs587777403
|
|
|
NM_002633.3(PGM1):c.199A>G (p.Met67Val)
|
rs561236041
|
|
|
NM_002633.3(PGM1):c.203A>T (p.Lys68Met)
|
|
|
|
NM_002633.3(PGM1):c.216G>C (p.Gln72His)
|
rs1280037054
|
|
|
NM_002633.3(PGM1):c.244G>T (p.Gly82Trp)
|
rs199928376
|
|
|
NM_002633.3(PGM1):c.246+20_246+21delinsAA
|
|
|
|
NM_002633.3(PGM1):c.246G>A (p.Gly82=)
|
|
|
|
NM_002633.3(PGM1):c.24G>T (p.Lys8Asn)
|
|
|
|
NM_002633.3(PGM1):c.265_266delinsTT (p.Gly89Leu)
|
|
|
|
NM_002633.3(PGM1):c.322G>A (p.Ala108Thr)
|
rs1356647959
|
|
|
NM_002633.3(PGM1):c.326T>C (p.Ile109Thr)
|
|
|
|
NM_002633.3(PGM1):c.38A>C (p.Gln13Pro)
|
|
|
|
NM_002633.3(PGM1):c.409+6T>C
|
rs2100982034
|
|
|
NM_002633.3(PGM1):c.460A>G (p.Ile154Val)
|
|
|
|
NM_002633.3(PGM1):c.463G>A (p.Glu155Lys)
|
|
|
|
NM_002633.3(PGM1):c.512G>A (p.Gly171Glu)
|
|
|
|
NM_002633.3(PGM1):c.556+3A>G
|
|
|
|
NM_002633.3(PGM1):c.574G>A (p.Val192Ile)
|
|
|
|
NM_002633.3(PGM1):c.5T>G (p.Val2Gly)
|
|
|
|
NM_002633.3(PGM1):c.602G>T (p.Ser201Ile)
|
|
|
|
NM_002633.3(PGM1):c.606C>G (p.Ile202Met)
|
|
|
|
NM_002633.3(PGM1):c.770T>C (p.Phe257Ser)
|
|
|
|
NM_002633.3(PGM1):c.794A>G (p.Asn265Ser)
|
|
|
|
NM_002633.3(PGM1):c.821A>G (p.Glu274Gly)
|
|
|
|
NM_002633.3(PGM1):c.836G>A (p.Gly279Glu)
|
|
|
|
NM_002633.3(PGM1):c.838G>C (p.Glu280Gln)
|
|
|
|
NM_002633.3(PGM1):c.873+5G>T
|
|
|
|
NM_002633.3(PGM1):c.91A>G (p.Ser31Gly)
|
rs2100947698
|
|
|
NM_002633.3(PGM1):c.929T>C (p.Val310Ala)
|
|
|
|
NM_002633.3(PGM1):c.973C>A (p.Gln325Lys)
|
|
|
|
NM_002633.3(PGM1):c.97G>C (p.Ala33Pro)
|
|
|
|
NM_002633.3(PGM1):c.980G>T (p.Gly327Val)
|
|
|
|
NM_002667.4(PLN):c.-97-?_*1344+?dup1600
|
|
|
|
NM_002667.5(PLN):c.113T>C (p.Ile38Thr)
|
rs1554219862
|
|
|
NM_002667.5(PLN):c.121T>A (p.Cys41Ser)
|
|
|
|
NM_002667.5(PLN):c.124C>A (p.Leu42Ile)
|
rs2114970183
|
|
|
NM_002667.5(PLN):c.126_127del (p.Leu43fs)
|
|
|
|
NM_002667.5(PLN):c.129G>C (p.Leu43Phe)
|
|
|
|
NM_002667.5(PLN):c.131T>C (p.Leu44Pro)
|
rs794729210
|
|
|
NM_002667.5(PLN):c.132_152dup (p.Ile45_Leu51dup)
|
rs1554219865
|
|
|
NM_002667.5(PLN):c.136T>C (p.Cys46Arg)
|
|
|
|
NM_002667.5(PLN):c.143T>G (p.Ile48Ser)
|
|
|
|
NM_002667.5(PLN):c.145_158del (p.Val49fs)
|
|
|
|
NM_002667.5(PLN):c.149T>C (p.Met50Thr)
|
rs1779076744
|
|
|
NM_002667.5(PLN):c.151C>A (p.Leu51Ile)
|
rs766452369
|
|
|
NM_002667.5(PLN):c.152T>C (p.Leu51Pro)
|
rs397516783
|
|
|
NM_002667.5(PLN):c.154C>A (p.Leu52Ile)
|
rs2114970391
|
|
|
NM_002667.5(PLN):c.16T>C (p.Tyr6His)
|
|
|
|
NM_002667.5(PLN):c.22A>C (p.Thr8Pro)
|
rs1060502977
|
|
|
NM_002667.5(PLN):c.29C>T (p.Ser10Leu)
|
rs1554219846
|
|
|
NM_002667.5(PLN):c.31G>A (p.Ala11Thr)
|
rs2114969616
|
|
|
NM_002667.5(PLN):c.31G>C (p.Ala11Pro)
|
|
|
|
NM_002667.5(PLN):c.35T>C (p.Ile12Thr)
|
|
|
|
NM_002667.5(PLN):c.56A>G (p.Glu19Gly)
|
rs2114969791
|
|
|
NM_002667.5(PLN):c.73C>G (p.Arg25Gly)
|
rs761056344
|
|
|
NM_002667.5(PLN):c.79A>G (p.Lys27Glu)
|
rs2114969956
|
|
|
NM_002667.5(PLN):c.94T>C (p.Phe32Leu)
|
|
|
|
NM_003140.3(SRY):c.226C>T (p.Arg76Cys)
|
rs2124486234
|
|
|
NM_003140.3(SRY):c.248C>A (p.Pro83His)
|
rs2051123246
|
|
|
NM_003140.3(SRY):c.253A>G (p.Met85Val)
|
rs2124486176
|
|
|
NM_003140.3(SRY):c.272G>A (p.Ser91Asn)
|
|
|
|
NM_003140.3(SRY):c.321G>T (p.Trp107Cys)
|
rs2051122910
|
|
|
NM_003140.3(SRY):c.472C>T (p.Gln158Ter)
|
|
|
|
NM_003140.3(SRY):c.570del (p.Ser191fs)
|
rs1603308285
|
|
|
NM_003140.3(SRY):c.589C>A (p.Arg197Ser)
|
rs756606002
|
|
|
NM_003280.3(TNNC1):c.116A>G (p.Lys39Arg)
|
|
|
|
NM_003280.3(TNNC1):c.121C>A (p.Leu41Met)
|
|
|
|
NM_003280.3(TNNC1):c.125G>A (p.Gly42Asp)
|
rs1706339623
|
|
|
NM_003280.3(TNNC1):c.130G>A (p.Val44Met)
|
rs1706339531
|
|
|
NM_003280.3(TNNC1):c.133A>G (p.Met45Val)
|
|
|
|
NM_003280.3(TNNC1):c.140T>G (p.Met47Arg)
|
rs1553651744
|
|
|
NM_003280.3(TNNC1):c.141G>A (p.Met47Ile)
|
|
|
|
NM_003280.3(TNNC1):c.14A>G (p.Tyr5Cys)
|
rs1706370933
|
|
|
NM_003280.3(TNNC1):c.150G>T (p.Gln50His)
|
|
|
|
NM_003280.3(TNNC1):c.155C>T (p.Pro52Leu)
|
rs730881065
|
|
|
NM_003280.3(TNNC1):c.157A>G (p.Thr53Ala)
|
rs1553651742
|
|
|
NM_003280.3(TNNC1):c.158C>T (p.Thr53Ile)
|
|
|
|
NM_003280.3(TNNC1):c.162del (p.Glu55fs)
|
|
|
|
NM_003280.3(TNNC1):c.163G>A (p.Glu55Lys)
|
|
|
|
NM_003280.3(TNNC1):c.175G>A (p.Glu59Lys)
|
|
|
|
NM_003280.3(TNNC1):c.175dup (p.Glu59fs)
|
rs1060502609
|
|
|
NM_003280.3(TNNC1):c.17A>G (p.Lys6Arg)
|
rs2153230085
|
|
|
NM_003280.3(TNNC1):c.183C>G (p.Ile61Met)
|
|
|
|
NM_003280.3(TNNC1):c.184G>A (p.Asp62Asn)
|
rs1040079072
|
|
|
NM_003280.3(TNNC1):c.186T>A (p.Asp62Glu)
|
rs1553651734
|
|
|
NM_003280.3(TNNC1):c.186T>G (p.Asp62Glu)
|
rs1553651734
|
|
|
NM_003280.3(TNNC1):c.188A>C (p.Glu63Ala)
|
|
|
|
NM_003280.3(TNNC1):c.189G>C (p.Glu63Asp)
|
rs864622721
|
|
|
NM_003280.3(TNNC1):c.189G>T (p.Glu63Asp)
|
rs864622721
|
|
|
NM_003280.3(TNNC1):c.18G>A (p.Lys6=)
|
rs775249696
|
|
|
NM_003280.3(TNNC1):c.195C>G (p.Asp65Glu)
|
rs370426309
|
|
|
NM_003280.3(TNNC1):c.196G>A (p.Glu66Lys)
|
rs1706338420
|
|
|
NM_003280.3(TNNC1):c.202+20G>A
|
rs2153229955
|
|
|
NM_003280.3(TNNC1):c.202+2T>C
|
|
|
|
NM_003280.3(TNNC1):c.202+4A>G
|
rs2153229957
|
|
|
NM_003280.3(TNNC1):c.202+6C>T
|
rs776392469
|
|
|
NM_003280.3(TNNC1):c.202G>A (p.Gly68Ser)
|
rs1267940563
|
|
|
NM_003280.3(TNNC1):c.203-9C>G
|
rs754800561
|
|
|
NM_003280.3(TNNC1):c.207C>G (p.Ser69Arg)
|
rs202173903
|
|
|
NM_003280.3(TNNC1):c.215T>C (p.Val72Ala)
|
|
|
|
NM_003280.3(TNNC1):c.230del (p.Phe77fs)
|
|
|
|
NM_003280.3(TNNC1):c.23C>G (p.Ala8Gly)
|
rs267607125
|
|
|
NM_003280.3(TNNC1):c.24+2T>G
|
rs2153230083
|
|
|
NM_003280.3(TNNC1):c.24+6G>A
|
rs1057521396
|
|
|
NM_003280.3(TNNC1):c.241A>T (p.Met81Leu)
|
|
|
|
NM_003280.3(TNNC1):c.247C>G (p.Arg83Gly)
|
|
|
|
NM_003280.3(TNNC1):c.247C>T (p.Arg83Trp)
|
rs2153229934
|
|
|
NM_003280.3(TNNC1):c.25-9C>A
|
rs1189158493
|
|
|
NM_003280.3(TNNC1):c.251G>A (p.Cys84Tyr)
|
rs267607126
|
|
|
NM_003280.3(TNNC1):c.257A>C (p.Lys86Thr)
|
|
|
|
NM_003280.3(TNNC1):c.25G>A (p.Val9Ile)
|
rs1578264552
|
|
|
NM_003280.3(TNNC1):c.262G>A (p.Asp88Asn)
|
rs730881058
|
|
|
NM_003280.3(TNNC1):c.265A>G (p.Ser89Gly)
|
rs2153229931
|
|
|
NM_003280.3(TNNC1):c.268_269insT (p.Lys90fs)
|
|
|
|
NM_003280.3(TNNC1):c.26T>G (p.Val9Gly)
|
rs730881056
|
|
|
NM_003280.3(TNNC1):c.271G>A (p.Gly91Arg)
|
rs1578264052
|
|
|
NM_003280.3(TNNC1):c.275A>T (p.Lys92Ile)
|
|
|
|
NM_003280.3(TNNC1):c.280G>C (p.Glu94Gln)
|
rs866734970
|
|
|
NM_003280.3(TNNC1):c.285G>T (p.Glu95Asp)
|
rs2153229927
|
|
|
NM_003280.3(TNNC1):c.286_287delinsAT (p.Glu96Met)
|
|
|
|
NM_003280.3(TNNC1):c.298C>T (p.Leu100Phe)
|
rs779157170
|
|
|
NM_003280.3(TNNC1):c.304C>A (p.Arg102Ser)
|
rs370103102
|
|
|
NM_003280.3(TNNC1):c.305G>T (p.Arg102Leu)
|
rs143020831
|
|
|
NM_003280.3(TNNC1):c.306C>T (p.Arg102=)
|
|
|
|
NM_003280.3(TNNC1):c.307A>C (p.Met103Leu)
|
rs1472014912
|
|
|
NM_003280.3(TNNC1):c.309G>A (p.Met103Ile)
|
rs2153229926
|
|
|
NM_003280.3(TNNC1):c.314A>G (p.Asp105Gly)
|
|
|
|
NM_003280.3(TNNC1):c.317+6C>G
|
rs2153229925
|
|
|
NM_003280.3(TNNC1):c.318-26_318-1dup
|
rs766904943
|
|
|
NM_003280.3(TNNC1):c.318-6C>G
|
rs1559615815
|
|
|
NM_003280.3(TNNC1):c.321T>G (p.Asn107Lys)
|
|
|
|
NM_003280.3(TNNC1):c.322_338del (p.Ala108fs)
|
|
|
|
NM_003280.3(TNNC1):c.328G>T (p.Gly110Cys)
|
rs1559615797
|
|
|
NM_003280.3(TNNC1):c.334A>G (p.Ile112Val)
|
rs756860563
|
|
|
NM_003280.3(TNNC1):c.336C>G (p.Ile112Met)
|
rs763584637
|
|
|
NM_003280.3(TNNC1):c.337del (p.Asp113fs)
|
|
|
|
NM_003280.3(TNNC1):c.339C>A (p.Asp113Glu)
|
|
|
|
NM_003280.3(TNNC1):c.341T>G (p.Leu114Arg)
|
rs2153229918
|
|
|
NM_003280.3(TNNC1):c.348G>T (p.Glu116Asp)
|
rs1060502610
|
|
|
NM_003280.3(TNNC1):c.354G>T (p.Lys118Asn)
|
rs1578263846
|
|
|
NM_003280.3(TNNC1):c.355A>G (p.Ile119Val)
|
rs1559615765
|
|
|
NM_003280.3(TNNC1):c.362_364delinsCTT (p.Leu121_Gln122delinsProTer)
|
rs2153229916
|
|
|
NM_003280.3(TNNC1):c.363dup (p.Gln122fs)
|
rs2153229917
|
|
|
NM_003280.3(TNNC1):c.370A>C (p.Thr124Pro)
|
|
|
|
NM_003280.3(TNNC1):c.383T>C (p.Ile128Thr)
|
rs1553651649
|
|
|
NM_003280.3(TNNC1):c.386C>G (p.Thr129Arg)
|
|
|
|
NM_003280.3(TNNC1):c.391GAC[1] (p.Asp132del)
|
rs1559615735
|
|
|
NM_003280.3(TNNC1):c.391del (p.Asp131fs)
|
|
|
|
NM_003280.3(TNNC1):c.393C>A (p.Asp131Glu)
|
rs147821122
|
|
|
NM_003280.3(TNNC1):c.400G>A (p.Glu134Lys)
|
rs1553651640
|
|
|
NM_003280.3(TNNC1):c.404A>C (p.Glu135Ala)
|
rs1706325583
|
|
|
NM_003280.3(TNNC1):c.416A>C (p.Asp139Ala)
|
|
|
|
NM_003280.3(TNNC1):c.426G>C (p.Lys142Asn)
|
rs756513152
|
|
|
NM_003280.3(TNNC1):c.427AAC[1] (p.Asn144del)
|
rs1553651630
|
|
|
NM_003280.3(TNNC1):c.429C>A (p.Asn143Lys)
|
|
|
|
NM_003280.3(TNNC1):c.434A>T (p.Asp145Val)
|
|
|
|
NM_003280.3(TNNC1):c.436G>C (p.Gly146Arg)
|
|
|
|
NM_003280.3(TNNC1):c.436G>T (p.Gly146Cys)
|
|
|
|
NM_003280.3(TNNC1):c.440G>A (p.Arg147His)
|
rs769919235
|
|
|
NM_003280.3(TNNC1):c.445G>A (p.Asp149Asn)
|
rs397516849
|
|
|
NM_003280.3(TNNC1):c.452A>T (p.Asp151Val)
|
rs1060502611
|
|
|
NM_003280.3(TNNC1):c.454+6C>T
|
rs750021293
|
|
|
NM_003280.3(TNNC1):c.455-3C>T
|
|
|
|
NM_003280.3(TNNC1):c.455-6C>G
|
rs1706318738
|
|
|
NM_003280.3(TNNC1):c.469A>T (p.Met157Leu)
|
rs730880230
|
|
|
NM_003280.3(TNNC1):c.470T>G (p.Met157Arg)
|
rs2153229911
|
|
|
NM_003280.3(TNNC1):c.473A>C (p.Lys158Thr)
|
rs1553651622
|
|
|
NM_003280.3(TNNC1):c.473A>G (p.Lys158Arg)
|
rs1553651622
|
|
|
NM_003280.3(TNNC1):c.50A>C (p.Lys17Thr)
|
rs2153229989
|
|
|
NM_003280.3(TNNC1):c.5A>G (p.Asp2Gly)
|
rs397516850
|
|
|
NM_003280.3(TNNC1):c.5A>T (p.Asp2Val)
|
|
|
|
NM_003280.3(TNNC1):c.65C>A (p.Ala22Glu)
|
|
|
|
NM_003280.3(TNNC1):c.65C>T (p.Ala22Val)
|
|
|
|
NM_003280.3(TNNC1):c.68C>A (p.Ala23Asp)
|
rs1559616263
|
|
|
NM_003280.3(TNNC1):c.73G>A (p.Asp25Asn)
|
rs730881064
|
|
|
NM_003280.3(TNNC1):c.7G>A (p.Asp3Asn)
|
rs2153230088
|
|
|
NM_003280.3(TNNC1):c.8A>G (p.Asp3Gly)
|
|
|
|
NM_003280.3(TNNC1):c.94G>A (p.Glu32Lys)
|
rs1553651750
|
|
|
NM_003373.4(VCL):c.659dup (p.Asn220fs)
|
rs397517245
|
|
|
NM_003476.5(CSRP3):c.109T>C (p.Cys37Arg)
|
rs776468900
|
|
|
NM_003476.5(CSRP3):c.109T>G (p.Cys37Gly)
|
rs776468900
|
|
|
NM_003476.5(CSRP3):c.113-3C>A
|
|
|
|
NM_003476.5(CSRP3):c.116C>A (p.Ala39Asp)
|
rs748417030
|
|
|
NM_003476.5(CSRP3):c.116C>G (p.Ala39Gly)
|
rs748417030
|
|
|
NM_003476.5(CSRP3):c.119G>A (p.Cys40Tyr)
|
rs1590104486
|
|
|
NM_003476.5(CSRP3):c.127G>T (p.Ala43Ser)
|
rs1174058654
|
|
|
NM_003476.5(CSRP3):c.133G>A (p.Asp45Asn)
|
|
|
|
NM_003476.5(CSRP3):c.136A>G (p.Ser46Gly)
|
|
|
|
NM_003476.5(CSRP3):c.143C>A (p.Thr48Lys)
|
rs1850561050
|
|
|
NM_003476.5(CSRP3):c.143C>T (p.Thr48Ile)
|
rs1850561050
|
|
|
NM_003476.5(CSRP3):c.149C>A (p.Ala50Glu)
|
rs139805841
|
|
|
NM_003476.5(CSRP3):c.149C>T (p.Ala50Val)
|
rs139805841
|
|
|
NM_003476.5(CSRP3):c.14G>A (p.Gly5Asp)
|
rs2133516544
|
|
|
NM_003476.5(CSRP3):c.151G>T (p.Ala51Ser)
|
rs1850560688
|
|
|
NM_003476.5(CSRP3):c.154C>T (p.His52Tyr)
|
rs1590104432
|
|
|
NM_003476.5(CSRP3):c.155A>C (p.His52Pro)
|
|
|
|
NM_003476.5(CSRP3):c.156T>A (p.His52Gln)
|
rs1020735963
|
|
|
NM_003476.5(CSRP3):c.157G>A (p.Glu53Lys)
|
|
|
|
NM_003476.5(CSRP3):c.159G>C (p.Glu53Asp)
|
rs1253887422
|
|
|
NM_003476.5(CSRP3):c.165del (p.Ile56fs)
|
rs2133511280
|
|
|
NM_003476.5(CSRP3):c.174C>T (p.Cys58=)
|
rs1057520959
|
|
|
NM_003476.5(CSRP3):c.17G>A (p.Gly6Glu)
|
rs1431565691
|
|
|
NM_003476.5(CSRP3):c.181T>C (p.Cys61Arg)
|
rs866941870
|
|
|
NM_003476.5(CSRP3):c.182G>A (p.Cys61Tyr)
|
|
|
|
NM_003476.5(CSRP3):c.187G>T (p.Gly63Trp)
|
|
|
|
NM_003476.5(CSRP3):c.190C>A (p.Arg64Ser)
|
|
|
|
NM_003476.5(CSRP3):c.196T>A (p.Tyr66Asn)
|
rs1319244603
|
|
|
NM_003476.5(CSRP3):c.208G>T (p.Gly70Trp)
|
rs777211110
|
|
|
NM_003476.5(CSRP3):c.223C>G (p.Gln75Glu)
|
rs776862812
|
|
|
NM_003476.5(CSRP3):c.229G>A (p.Ala77Thr)
|
rs746207
|
|
|
NM_003476.5(CSRP3):c.229G>T (p.Ala77Ser)
|
rs746207
|
|
|
NM_003476.5(CSRP3):c.233G>T (p.Gly78Val)
|
rs963128995
|
|
|
NM_003476.5(CSRP3):c.236G>C (p.Cys79Ser)
|
|
|
|
NM_003476.5(CSRP3):c.238C>G (p.Leu80Val)
|
|
|
|
NM_003476.5(CSRP3):c.238C>T (p.Leu80Phe)
|
rs779184695
|
|
|
NM_003476.5(CSRP3):c.265G>A (p.Gly89Ser)
|
rs367827746
|
|
|
NM_003476.5(CSRP3):c.265G>T (p.Gly89Cys)
|
rs367827746
|
|
|
NM_003476.5(CSRP3):c.267C>T (p.Gly89=)
|
rs2133510984
|
|
|
NM_003476.5(CSRP3):c.269T>C (p.Leu90Pro)
|
rs760832923
|
|
|
NM_003476.5(CSRP3):c.26A>C (p.Lys9Thr)
|
rs1352827887
|
|
|
NM_003476.5(CSRP3):c.278A>C (p.Gln93Pro)
|
rs2133510956
|
|
|
NM_003476.5(CSRP3):c.280C>G (p.Gln94Glu)
|
rs1163785853
|
|
|
NM_003476.5(CSRP3):c.281+3G>A
|
|
|
|
NM_003476.5(CSRP3):c.282-3C>G
|
rs1554967570
|
|
|
NM_003476.5(CSRP3):c.284C>G (p.Ser95Cys)
|
|
|
|
NM_003476.5(CSRP3):c.28T>C (p.Cys10Arg)
|
rs2133516498
|
|
|
NM_003476.5(CSRP3):c.298C>A (p.Arg100Ser)
|
|
|
|
NM_003476.5(CSRP3):c.300C>G (p.Arg100=)
|
rs146290726
|
|
|
NM_003476.5(CSRP3):c.301T>A (p.Ser101Thr)
|
|
|
|
NM_003476.5(CSRP3):c.311C>T (p.Thr104Ile)
|
rs758083208
|
|
|
NM_003476.5(CSRP3):c.319C>A (p.Pro107Thr)
|
rs1318623802
|
|
|
NM_003476.5(CSRP3):c.329del (p.Phe110fs)
|
rs2133508524
|
|
|
NM_003476.5(CSRP3):c.32G>A (p.Gly11Glu)
|
rs1196538543
|
|
|
NM_003476.5(CSRP3):c.332C>G (p.Thr111Ser)
|
rs1850524667
|
|
|
NM_003476.5(CSRP3):c.335C>A (p.Ala112Glu)
|
|
|
|
NM_003476.5(CSRP3):c.335C>G (p.Ala112Gly)
|
rs753711278
|
|
|
NM_003476.5(CSRP3):c.335C>T (p.Ala112Val)
|
rs753711278
|
|
|
NM_003476.5(CSRP3):c.338A>C (p.Lys113Thr)
|
|
|
|
NM_003476.5(CSRP3):c.349T>C (p.Ser117Pro)
|
|
|
|
NM_003476.5(CSRP3):c.354G>C (p.Glu118Asp)
|
rs876657767
|
|
|
NM_003476.5(CSRP3):c.354G>T (p.Glu118Asp)
|
rs876657767
|
|
|
NM_003476.5(CSRP3):c.358T>C (p.Cys120Arg)
|
rs2133508417
|
|
|
NM_003476.5(CSRP3):c.35C>G (p.Ala12Gly)
|
|
|
|
NM_003476.5(CSRP3):c.362del (p.Pro121fs)
|
rs1565050709
|
|
|
NM_003476.5(CSRP3):c.370G>A (p.Gly124Ser)
|
|
|
|
NM_003476.5(CSRP3):c.377C>T (p.Ser126Leu)
|
|
|
|
NM_003476.5(CSRP3):c.37T>C (p.Cys13Arg)
|
rs1257113692
|
|
|
NM_003476.5(CSRP3):c.385G>T (p.Ala129Ser)
|
|
|
|
NM_003476.5(CSRP3):c.386C>G (p.Ala129Gly)
|
rs760292738
|
|
|
NM_003476.5(CSRP3):c.38G>A (p.Cys13Tyr)
|
|
|
|
NM_003476.5(CSRP3):c.391G>C (p.Glu131Gln)
|
|
|
|
NM_003476.5(CSRP3):c.402G>A (p.Met134Ile)
|
|
|
|
NM_003476.5(CSRP3):c.403G>A (p.Gly135Arg)
|
rs1850522271
|
|
|
NM_003476.5(CSRP3):c.415-10T>A
|
|
|
|
NM_003476.5(CSRP3):c.415-1G>A
|
rs775194825
|
|
|
NM_003476.5(CSRP3):c.415-3C>T
|
|
|
|
NM_003476.5(CSRP3):c.415-7_415-6delinsTA
|
rs2133507010
|
|
|
NM_003476.5(CSRP3):c.424A>G (p.Lys142Glu)
|
rs2133506962
|
|
|
NM_003476.5(CSRP3):c.437G>T (p.Arg146Leu)
|
|
|
|
NM_003476.5(CSRP3):c.439T>C (p.Cys147Arg)
|
rs2133506925
|
|
|
NM_003476.5(CSRP3):c.43A>G (p.Lys15Glu)
|
|
|
|
NM_003476.5(CSRP3):c.443C>T (p.Ala148Val)
|
rs2133506914
|
|
|
NM_003476.5(CSRP3):c.452G>A (p.Gly151Glu)
|
rs878854613
|
|
|
NM_003476.5(CSRP3):c.457_458del (p.Leu154fs)
|
rs748393033
|
|
|
NM_003476.5(CSRP3):c.459T>A (p.Ser153Arg)
|
rs1590102813
|
|
|
NM_003476.5(CSRP3):c.460C>G (p.Leu154Val)
|
|
|
|
NM_003476.5(CSRP3):c.461T>G (p.Leu154Arg)
|
rs1554967431
|
|
|
NM_003476.5(CSRP3):c.467C>T (p.Ser156Phe)
|
rs758379114
|
|
|
NM_003476.5(CSRP3):c.468del (p.Thr157fs)
|
rs2133506845
|
|
|
NM_003476.5(CSRP3):c.479C>A (p.Thr160Asn)
|
|
|
|
NM_003476.5(CSRP3):c.481G>A (p.Asp161Asn)
|
|
|
|
NM_003476.5(CSRP3):c.481G>C (p.Asp161His)
|
|
|
|
NM_003476.5(CSRP3):c.490G>A (p.Gly164Arg)
|
rs2133506813
|
|
|
NM_003476.5(CSRP3):c.496C>G (p.Leu166Val)
|
|
|
|
NM_003476.5(CSRP3):c.49_55del (p.Val17fs)
|
rs776444956
|
|
|
NM_003476.5(CSRP3):c.49del (p.Val17fs)
|
rs869025378
|
|
|
NM_003476.5(CSRP3):c.508+5G>C
|
|
|
|
NM_003476.5(CSRP3):c.50T>A (p.Val17Asp)
|
rs1060500131
|
|
|
NM_003476.5(CSRP3):c.514T>C (p.Tyr172His)
|
rs1850457848
|
|
|
NM_003476.5(CSRP3):c.516T>A (p.Tyr172Ter)
|
|
|
|
NM_003476.5(CSRP3):c.518C>T (p.Ala173Val)
|
rs1175934112
|
|
|
NM_003476.5(CSRP3):c.524A>G (p.Asn175Ser)
|
rs370147131
|
|
|
NM_003476.5(CSRP3):c.524dup (p.Asn175fs)
|
rs1554967256
|
|
|
NM_003476.5(CSRP3):c.533C>T (p.Pro178Leu)
|
|
|
|
NM_003476.5(CSRP3):c.539G>T (p.Gly180Val)
|
rs727504899
|
|
|
NM_003476.5(CSRP3):c.541A>G (p.Ile181Val)
|
|
|
|
NM_003476.5(CSRP3):c.542T>C (p.Ile181Thr)
|
rs1565049312
|
|
|
NM_003476.5(CSRP3):c.553G>A (p.Gly185Ser)
|
|
|
|
NM_003476.5(CSRP3):c.55C>G (p.His19Asp)
|
|
|
|
NM_003476.5(CSRP3):c.55del (p.His19fs)
|
rs1554968138
|
|
|
NM_003476.5(CSRP3):c.562C>G (p.Gln188Glu)
|
rs2133503835
|
|
|
NM_003476.5(CSRP3):c.562CAA[1] (p.Gln189del)
|
rs1173035411
|
|
|
NM_003476.5(CSRP3):c.580G>C (p.Glu194Gln)
|
|
|
|
NM_003476.5(CSRP3):c.583T>A (p.Ter195Arg)
|
rs774359383
|
|
|
NM_003476.5(CSRP3):c.5C>A (p.Pro2Gln)
|
|
|
|
NM_003476.5(CSRP3):c.72del (p.Gln24fs)
|
rs766395852
|
|
|
NM_003476.5(CSRP3):c.73T>A (p.Cys25Ser)
|
rs2133516363
|
|
|
NM_003476.5(CSRP3):c.76A>G (p.Asn26Asp)
|
rs1408098337
|
|
|
NM_003476.5(CSRP3):c.78T>G (p.Asn26Lys)
|
|
|
|
NM_003476.5(CSRP3):c.82_85del (p.Arg28fs)
|
rs2133516329
|
|
|
NM_003476.5(CSRP3):c.88T>C (p.Phe30Leu)
|
rs2133516315
|
|
|
NM_003476.5(CSRP3):c.93C>G (p.His31Gln)
|
rs863225265
|
|
|
NM_003673.4(TCAP):c.105G>A (p.Glu35=)
|
|
|
|
NM_003673.4(TCAP):c.110+13C>A
|
|
|
|
NM_003673.4(TCAP):c.110+5G>C
|
|
|
|
NM_003673.4(TCAP):c.110+6T>G
|
|
|
|
NM_003673.4(TCAP):c.111C>G (p.Gly37=)
|
|
|
|
NM_003673.4(TCAP):c.116C>G (p.Ser39Cys)
|
rs1555607027
|
|
|
NM_003673.4(TCAP):c.122A>G (p.His41Arg)
|
|
|
|
NM_003673.4(TCAP):c.126GGA[1] (p.Glu43del)
|
rs1221886757
|
|
|
NM_003673.4(TCAP):c.130G>A (p.Asp44Asn)
|
|
|
|
NM_003673.4(TCAP):c.134C>T (p.Thr45Ile)
|
|
|
|
NM_003673.4(TCAP):c.137A>G (p.Gln46Arg)
|
rs2057249911
|
|
|
NM_003673.4(TCAP):c.148A>G (p.Thr50Ala)
|
rs2057250048
|
|
|
NM_003673.4(TCAP):c.14A>G (p.Glu5Gly)
|
|
|
|
NM_003673.4(TCAP):c.169T>C (p.Cys57Arg)
|
rs886042772
|
|
|
NM_003673.4(TCAP):c.178C>G (p.Leu60Val)
|
|
|
|
NM_003673.4(TCAP):c.198G>C (p.Trp66Cys)
|
|
|
|
NM_003673.4(TCAP):c.202A>G (p.Met68Val)
|
rs770133993
|
|
|
NM_003673.4(TCAP):c.202ATG[1] (p.Met69del)
|
rs2145073493
|
|
|
NM_003673.4(TCAP):c.204G>A (p.Met68Ile)
|
rs1480109974
|
|
|
NM_003673.4(TCAP):c.211A>G (p.Met71Val)
|
|
|
|
NM_003673.4(TCAP):c.212T>C (p.Met71Thr)
|
|
|
|
NM_003673.4(TCAP):c.218T>C (p.Ile73Thr)
|
|
|
|
NM_003673.4(TCAP):c.22T>A (p.Cys8Ser)
|
rs1597805144
|
|
|
NM_003673.4(TCAP):c.22T>C (p.Cys8Arg)
|
rs1597805144
|
|
|
NM_003673.4(TCAP):c.239A>G (p.Glu80Gly)
|
rs2145073624
|
|
|
NM_003673.4(TCAP):c.23G>T (p.Cys8Phe)
|
rs899342367
|
|
|
NM_003673.4(TCAP):c.240G>T (p.Glu80Asp)
|
rs758101613
|
|
|
NM_003673.4(TCAP):c.265C>A (p.Leu89Met)
|
|
|
|
NM_003673.4(TCAP):c.269C>A (p.Pro90Gln)
|
rs727504427
|
|
|
NM_003673.4(TCAP):c.275C>A (p.Pro92His)
|
rs2057251380
|
|
|
NM_003673.4(TCAP):c.277A>G (p.Ile93Val)
|
|
|
|
NM_003673.4(TCAP):c.278T>C (p.Ile93Thr)
|
rs2057251438
|
|
|
NM_003673.4(TCAP):c.286C>T (p.Pro96Ser)
|
rs1597805580
|
|
|
NM_003673.4(TCAP):c.294_295delinsAG (p.Met99Val)
|
rs2057251619
|
|
|
NM_003673.4(TCAP):c.310GAG[1] (p.Glu105del)
|
rs748506107
|
|
|
NM_003673.4(TCAP):c.313G>A (p.Glu105Lys)
|
rs146906267
|
|
|
NM_003673.4(TCAP):c.316C>A (p.Arg106Ser)
|
rs45578741
|
|
|
NM_003673.4(TCAP):c.317G>T (p.Arg106Leu)
|
rs576098128
|
|
|
NM_003673.4(TCAP):c.325A>G (p.Thr109Ala)
|
|
|
|
NM_003673.4(TCAP):c.330del (p.Ile111fs)
|
rs2057251924
|
|
|
NM_003673.4(TCAP):c.331A>C (p.Ile111Leu)
|
rs2057251976
|
|
|
NM_003673.4(TCAP):c.332dup (p.Gln112fs)
|
|
|
|
NM_003673.4(TCAP):c.343G>A (p.Glu115Lys)
|
rs1060502965
|
|
|
NM_003673.4(TCAP):c.344A>T (p.Glu115Val)
|
rs1597805658
|
|
|
NM_003673.4(TCAP):c.34G>C (p.Glu12Gln)
|
|
|
|
NM_003673.4(TCAP):c.34_48dup (p.Glu16_Arg17insGluGluAsnCysGlu)
|
|
|
|
NM_003673.4(TCAP):c.353C>A (p.Ala118Glu)
|
rs143233087
|
|
|
NM_003673.4(TCAP):c.380G>A (p.Cys127Tyr)
|
|
|
|
NM_003673.4(TCAP):c.386A>C (p.Asp129Ala)
|
rs1324156287
|
|
|
NM_003673.4(TCAP):c.387C>G (p.Asp129Glu)
|
rs768942598
|
|
|
NM_003673.4(TCAP):c.388C>A (p.Arg130Ser)
|
rs374886575
|
|
|
NM_003673.4(TCAP):c.389G>C (p.Arg130Pro)
|
rs147503632
|
|
|
NM_003673.4(TCAP):c.394G>C (p.Glu132Gln)
|
|
|
|
NM_003673.4(TCAP):c.397G>A (p.Val133Met)
|
|
|
|
NM_003673.4(TCAP):c.402del (p.Glu135fs)
|
|
|
|
NM_003673.4(TCAP):c.406A>C (p.Ile136Leu)
|
rs2145074399
|
|
|
NM_003673.4(TCAP):c.407T>A (p.Ile136Asn)
|
rs2145074402
|
|
|
NM_003673.4(TCAP):c.408_410delinsA (p.Thr137fs)
|
|
|
|
NM_003673.4(TCAP):c.415C>T (p.Gln139Ter)
|
rs2145074459
|
|
|
NM_003673.4(TCAP):c.422C>T (p.Pro141Leu)
|
rs1168993495
|
|
|
NM_003673.4(TCAP):c.424C>A (p.Pro142Thr)
|
rs964326898
|
|
|
NM_003673.4(TCAP):c.425_426del (p.Pro142fs)
|
rs2145074542
|
|
|
NM_003673.4(TCAP):c.425del (p.Pro142fs)
|
|
|
|
NM_003673.4(TCAP):c.428T>G (p.Val143Gly)
|
|
|
|
NM_003673.4(TCAP):c.445C>G (p.Pro149Ala)
|
rs932397209
|
|
|
NM_003673.4(TCAP):c.446C>G (p.Pro149Arg)
|
rs1271647421
|
|
|
NM_003673.4(TCAP):c.448G>C (p.Gly150Arg)
|
|
|
|
NM_003673.4(TCAP):c.450dup (p.Ala151fs)
|
rs2145074763
|
|
|
NM_003673.4(TCAP):c.452_453delinsTC (p.Ala151Val)
|
rs2057253289
|
|
|
NM_003673.4(TCAP):c.457C>A (p.Arg153Ser)
|
rs761498487
|
|
|
NM_003673.4(TCAP):c.464C>G (p.Ser155Cys)
|
|
|
|
NM_003673.4(TCAP):c.46G>A (p.Glu16Lys)
|
rs2145072261
|
|
|
NM_003673.4(TCAP):c.470C>T (p.Ser157Phe)
|
rs2057253611
|
|
|
NM_003673.4(TCAP):c.472C>T (p.Arg158Cys)
|
rs397516863
|
|
|
NM_003673.4(TCAP):c.473G>T (p.Arg158Leu)
|
rs397516864
|
|
|
NM_003673.4(TCAP):c.476C>G (p.Ser159Cys)
|
rs1427293841
|
|
|
NM_003673.4(TCAP):c.478A>G (p.Met160Val)
|
rs1057106389
|
|
|
NM_003673.4(TCAP):c.479T>C (p.Met160Thr)
|
|
|
|
NM_003673.4(TCAP):c.479_494del (p.Met160fs)
|
rs2145074994
|
|
|
NM_003673.4(TCAP):c.481T>A (p.Ser161Thr)
|
rs1567865417
|
|
|
NM_003673.4(TCAP):c.493C>G (p.Gln165Glu)
|
rs397516865
|
|
|
NM_003673.4(TCAP):c.499G>A (p.Gly167Ser)
|
rs794729177
|
|
|
NM_003673.4(TCAP):c.500G>C (p.Gly167Ala)
|
|
|
|
NM_003673.4(TCAP):c.504AG[1] (p.Ter168=)
|
rs2057253961
|
|
|
NM_003673.4(TCAP):c.50G>A (p.Arg17His)
|
|
|
|
NM_003673.4(TCAP):c.50G>C (p.Arg17Pro)
|
rs750796201
|
|
|
NM_003673.4(TCAP):c.50_51delinsCT (p.Arg17Pro)
|
rs1555606961
|
|
|
NM_003673.4(TCAP):c.58G>T (p.Ala20Ser)
|
rs2057247244
|
|
|
NM_003673.4(TCAP):c.62_64del (p.Phe21del)
|
|
|
|
NM_003673.4(TCAP):c.88C>G (p.Leu30Val)
|
rs1282445039
|
|
|
NM_003673.4(TCAP):c.98G>T (p.Arg33Leu)
|
rs1085307822
|
|
|
NM_003803.4(MYOM1):c.1006A>G (p.Thr336Ala)
|
|
|
|
NM_003803.4(MYOM1):c.1022_1022+1delinsCA
|
rs1555627004
|
|
|
NM_003803.4(MYOM1):c.1048T>G (p.Tyr350Asp)
|
rs1487619209
|
|
|
NM_003803.4(MYOM1):c.1049A>C (p.Tyr350Ser)
|
|
|
|
NM_003803.4(MYOM1):c.1065G>C (p.Met355Ile)
|
|
|
|
NM_003803.4(MYOM1):c.1085C>T (p.Ser362Leu)
|
|
|
|
NM_003803.4(MYOM1):c.1094C>A (p.Ala365Asp)
|
|
|
|
NM_003803.4(MYOM1):c.1112-3T>C
|
|
|
|
NM_003803.4(MYOM1):c.1121G>A (p.Gly374Glu)
|
|
|
|
NM_003803.4(MYOM1):c.1133A>G (p.Glu378Gly)
|
rs2144089219
|
|
|
NM_003803.4(MYOM1):c.1138C>T (p.Arg380Cys)
|
|
|
|
NM_003803.4(MYOM1):c.1139G>C (p.Arg380Pro)
|
rs761231031
|
|
|
NM_003803.4(MYOM1):c.1145A>G (p.His382Arg)
|
|
|
|
NM_003803.4(MYOM1):c.1145_1146inv (p.His382Arg)
|
|
|
|
NM_003803.4(MYOM1):c.1148C>T (p.Ala383Val)
|
|
|
|
NM_003803.4(MYOM1):c.1153G>T (p.Ala385Ser)
|
|
|
|
NM_003803.4(MYOM1):c.115T>A (p.Tyr39Asn)
|
|
|
|
NM_003803.4(MYOM1):c.1174+1G>A
|
|
|
|
NM_003803.4(MYOM1):c.1175-3C>T
|
rs1598739642
|
|
|
NM_003803.4(MYOM1):c.1184C>A (p.Thr395Asn)
|
rs1404270892
|
|
|
NM_003803.4(MYOM1):c.118A>G (p.Thr40Ala)
|
rs372161153
|
|
|
NM_003803.4(MYOM1):c.119C>T (p.Thr40Ile)
|
rs759358324
|
|
|
NM_003803.4(MYOM1):c.1210G>A (p.Glu404Lys)
|
|
|
|
NM_003803.4(MYOM1):c.1213A>G (p.Ile405Val)
|
rs2144068407
|
|
|
NM_003803.4(MYOM1):c.1213A>T (p.Ile405Phe)
|
rs2144068407
|
|
|
NM_003803.4(MYOM1):c.1223A>T (p.Asp408Val)
|
|
|
|
NM_003803.4(MYOM1):c.1235A>T (p.Asp412Val)
|
rs767444514
|
|
|
NM_003803.4(MYOM1):c.1252G>C (p.Glu418Gln)
|
rs1567947051
|
|
|
NM_003803.4(MYOM1):c.1261A>G (p.Thr421Ala)
|
|
|
|
NM_003803.4(MYOM1):c.1268G>C (p.Ser423Thr)
|
rs1598739512
|
|
|
NM_003803.4(MYOM1):c.1280G>A (p.Arg427His)
|
|
|
|
NM_003803.4(MYOM1):c.1316C>G (p.Pro439Arg)
|
|
|
|
NM_003803.4(MYOM1):c.1322T>C (p.Ile441Thr)
|
rs773743579
|
|
|
NM_003803.4(MYOM1):c.1334G>T (p.Arg445Ile)
|
rs558801546
|
|
|
NM_003803.4(MYOM1):c.133G>T (p.Ala45Ser)
|
rs749964099
|
|
|
NM_003803.4(MYOM1):c.1353_1354del (p.Pro452fs)
|
|
|
|
NM_003803.4(MYOM1):c.1354C>G (p.Pro452Ala)
|
rs2080440437
|
|
|
NM_003803.4(MYOM1):c.1365G>T (p.Trp455Cys)
|
rs374593777
|
|
|
NM_003803.4(MYOM1):c.1366G>A (p.Val456Met)
|
rs2080440129
|
|
|
NM_003803.4(MYOM1):c.1378T>C (p.Trp460Arg)
|
rs781034408
|
|
|
NM_003803.4(MYOM1):c.1390C>T (p.Arg464Trp)
|
|
|
|
NM_003803.4(MYOM1):c.1396A>C (p.Thr466Pro)
|
|
|
|
NM_003803.4(MYOM1):c.1405T>C (p.Phe469Leu)
|
|
|
|
NM_003803.4(MYOM1):c.1412A>G (p.His471Arg)
|
|
|
|
NM_003803.4(MYOM1):c.1418A>G (p.Asn473Ser)
|
|
|
|
NM_003803.4(MYOM1):c.1424A>C (p.Glu475Ala)
|
rs1567944437
|
|
|
NM_003803.4(MYOM1):c.1426del (p.Asp476fs)
|
rs2144049001
|
|
|
NM_003803.4(MYOM1):c.142A>G (p.Ser48Gly)
|
|
|
|
NM_003803.4(MYOM1):c.142A>T (p.Ser48Cys)
|
rs1234403854
|
|
|
NM_003803.4(MYOM1):c.1433G>T (p.Gly478Val)
|
rs1306648993
|
|
|
NM_003803.4(MYOM1):c.1442C>T (p.Thr481Ile)
|
|
|
|
NM_003803.4(MYOM1):c.1444A>G (p.Ile482Val)
|
|
|
|
NM_003803.4(MYOM1):c.1450G>A (p.Val484Ile)
|
|
|
|
NM_003803.4(MYOM1):c.1454G>A (p.Arg485Gln)
|
rs376821263
|
|
|
NM_003803.4(MYOM1):c.1458G>A (p.Met486Ile)
|
|
|
|
NM_003803.4(MYOM1):c.1473del (p.Glu491fs)
|
rs2080437915
|
|
|
NM_003803.4(MYOM1):c.1474del (p.Gln492fs)
|
rs2144048623
|
|
|
NM_003803.4(MYOM1):c.1498C>T (p.Arg500Ter)
|
|
|
|
NM_003803.4(MYOM1):c.1499G>A (p.Arg500Gln)
|
|
|
|
NM_003803.4(MYOM1):c.1501+6T>A
|
|
|
|
NM_003803.4(MYOM1):c.1502-3C>T
|
rs1173337647
|
|
|
NM_003803.4(MYOM1):c.1525G>T (p.Ala509Ser)
|
rs748712491
|
|
|
NM_003803.4(MYOM1):c.1565A>G (p.Asn522Ser)
|
|
|
|
NM_003803.4(MYOM1):c.1571A>T (p.Asp524Val)
|
|
|
|
NM_003803.4(MYOM1):c.157G>A (p.Ala53Thr)
|
|
|
|
NM_003803.4(MYOM1):c.1597C>T (p.Pro533Ser)
|
|
|
|
NM_003803.4(MYOM1):c.1606G>T (p.Asp536Tyr)
|
|
|
|
NM_003803.4(MYOM1):c.1622T>G (p.Ile541Ser)
|
|
|
|
NM_003803.4(MYOM1):c.1626C>A (p.Leu542=)
|
|
|
|
NM_003803.4(MYOM1):c.1690G>C (p.Val564Leu)
|
rs2080227826
|
|
|
NM_003803.4(MYOM1):c.1702C>G (p.Arg568Gly)
|
|
|
|
NM_003803.4(MYOM1):c.1719A>T (p.Gly573=)
|
rs937051314
|
|
|
NM_003803.4(MYOM1):c.1726G>A (p.Glu576Lys)
|
|
|
|
NM_003803.4(MYOM1):c.1733G>A (p.Arg578His)
|
rs200374196
|
|
|
NM_003803.4(MYOM1):c.1754G>A (p.Arg585Gln)
|
|
|
|
NM_003803.4(MYOM1):c.175G>A (p.Glu59Lys)
|
rs878854614
|
|
|
NM_003803.4(MYOM1):c.1787C>G (p.Ser596Cys)
|
rs1248946207
|
|
|
NM_003803.4(MYOM1):c.1787C>T (p.Ser596Phe)
|
|
|
|
NM_003803.4(MYOM1):c.1798G>A (p.Glu600Lys)
|
|
|
|
NM_003803.4(MYOM1):c.1837C>T (p.Leu613Phe)
|
|
|
|
NM_003803.4(MYOM1):c.1846C>T (p.Arg616Cys)
|
|
|
|
NM_003803.4(MYOM1):c.185G>A (p.Arg62His)
|
|
|
|
NM_003803.4(MYOM1):c.1862G>C (p.Trp621Ser)
|
|
|
|
NM_003803.4(MYOM1):c.1882A>G (p.Thr628Ala)
|
|
|
|
NM_003803.4(MYOM1):c.1885G>A (p.Glu629Lys)
|
rs1221446387
|
|
|
NM_003803.4(MYOM1):c.1904G>A (p.Gly635Asp)
|
|
|
|
NM_003803.4(MYOM1):c.190G>A (p.Ala64Thr)
|
|
|
|
NM_003803.4(MYOM1):c.1916G>T (p.Gly639Val)
|
rs1386718417
|
|
|
NM_003803.4(MYOM1):c.1922del (p.Pro641fs)
|
|
|
|
NM_003803.4(MYOM1):c.1927G>A (p.Asp643Asn)
|
|
|
|
NM_003803.4(MYOM1):c.1951C>T (p.Arg651Trp)
|
|
|
|
NM_003803.4(MYOM1):c.1955G>A (p.Ser652Asn)
|
rs752331737
|
|
|
NM_003803.4(MYOM1):c.1963G>A (p.Val655Met)
|
rs2143941457
|
|
|
NM_003803.4(MYOM1):c.1978C>T (p.Pro660Ser)
|
rs201104206
|
|
|
NM_003803.4(MYOM1):c.197C>T (p.Ala66Val)
|
rs1188423604
|
|
|
NM_003803.4(MYOM1):c.19C>T (p.Gln7Ter)
|
rs774833040
|
|
|
NM_003803.4(MYOM1):c.2026T>C (p.Cys676Arg)
|
|
|
|
NM_003803.4(MYOM1):c.203C>A (p.Ser68Tyr)
|
rs565442597
|
|
|
NM_003803.4(MYOM1):c.2053C>T (p.Arg685Ter)
|
rs1475217854
|
|
|
NM_003803.4(MYOM1):c.2087G>T (p.Arg696Leu)
|
|
|
|
NM_003803.4(MYOM1):c.208C>T (p.Gln70Ter)
|
rs2081243760
|
|
|
NM_003803.4(MYOM1):c.2114G>A (p.Gly705Glu)
|
|
|
|
NM_003803.4(MYOM1):c.2123_2125del (p.Tyr708del)
|
rs761028638
|
|
|
NM_003803.4(MYOM1):c.212A>T (p.Gln71Leu)
|
rs878922094
|
|
|
NM_003803.4(MYOM1):c.2131C>T (p.Arg711Cys)
|
rs368232161
|
|
|
NM_003803.4(MYOM1):c.2141G>C (p.Cys714Ser)
|
|
|
|
NM_003803.4(MYOM1):c.2161G>T (p.Gly721Cys)
|
|
|
|
NM_003803.4(MYOM1):c.2177C>G (p.Ala726Gly)
|
|
|
|
NM_003803.4(MYOM1):c.2185G>A (p.Val729Met)
|
|
|
|
NM_003803.4(MYOM1):c.2205A>T (p.Lys735Asn)
|
|
|
|
NM_003803.4(MYOM1):c.2209+4A>G
|
rs1567926056
|
|
|
NM_003803.4(MYOM1):c.2222C>T (p.Ala741Val)
|
|
|
|
NM_003803.4(MYOM1):c.2236A>C (p.Ile746Leu)
|
|
|
|
NM_003803.4(MYOM1):c.2257dup (p.Thr753fs)
|
rs770522680
|
|
|
NM_003803.4(MYOM1):c.2263G>A (p.Val755Met)
|
|
|
|
NM_003803.4(MYOM1):c.2273C>T (p.Ser758Leu)
|
|
|
|
NM_003803.4(MYOM1):c.2299_2300inv (p.Glu767Ser)
|
|
|
|
NM_003803.4(MYOM1):c.2318T>C (p.Ile773Thr)
|
|
|
|
NM_003803.4(MYOM1):c.2320G>A (p.Glu774Lys)
|
|
|
|
NM_003803.4(MYOM1):c.2324C>T (p.Ala775Val)
|
|
|
|
NM_003803.4(MYOM1):c.2346G>C (p.Lys782Asn)
|
rs371797353
|
|
|
NM_003803.4(MYOM1):c.2357G>A (p.Cys786Tyr)
|
|
|
|
NM_003803.4(MYOM1):c.2371G>A (p.Val791Met)
|
|
|
|
NM_003803.4(MYOM1):c.2378G>T (p.Gly793Val)
|
rs2079928717
|
|
|
NM_003803.4(MYOM1):c.2383C>G (p.Arg795Gly)
|
rs201618512
|
|
|
NM_003803.4(MYOM1):c.2383C>T (p.Arg795Ter)
|
rs201618512
|
|
|
NM_003803.4(MYOM1):c.2384+12G>A
|
|
|
|
NM_003803.4(MYOM1):c.2384G>A (p.Arg795Gln)
|
|
|
|
NM_003803.4(MYOM1):c.2385-19A>G
|
rs1361865610
|
|
|
NM_003803.4(MYOM1):c.2390C>G (p.Thr797Ser)
|
|
|
|
NM_003803.4(MYOM1):c.239C>G (p.Ser80Cys)
|
|
|
|
NM_003803.4(MYOM1):c.2411G>A (p.Gly804Asp)
|
|
|
|
NM_003803.4(MYOM1):c.2429G>C (p.Arg810Pro)
|
|
|
|
NM_003803.4(MYOM1):c.2485A>G (p.Ile829Val)
|
|
|
|
NM_003803.4(MYOM1):c.2506+4A>G
|
|
|
|
NM_003803.4(MYOM1):c.2509G>A (p.Gly837Arg)
|
|
|
|
NM_003803.4(MYOM1):c.2513G>A (p.Gly838Glu)
|
rs2143879947
|
|
|
NM_003803.4(MYOM1):c.2531G>T (p.Cys844Phe)
|
|
|
|
NM_003803.4(MYOM1):c.2545G>A (p.Asp849Asn)
|
rs913259879
|
|
|
NM_003803.4(MYOM1):c.2577dup (p.Arg860fs)
|
|
|
|
NM_003803.4(MYOM1):c.2581G>T (p.Val861Leu)
|
rs537504476
|
|
|
NM_003803.4(MYOM1):c.2587G>C (p.Glu863Gln)
|
rs2143878899
|
|
|
NM_003803.4(MYOM1):c.2617G>A (p.Ala873Thr)
|
rs1598703350
|
|
|
NM_003803.4(MYOM1):c.2623C>T (p.Leu875Phe)
|
|
|
|
NM_003803.4(MYOM1):c.2630G>C (p.Ser877Thr)
|
rs1313786328
|
|
|
NM_003803.4(MYOM1):c.263C>T (p.Ser88Leu)
|
rs758070531
|
|
|
NM_003803.4(MYOM1):c.2685A>G (p.Glu895=)
|
|
|
|
NM_003803.4(MYOM1):c.2688G>A (p.Val896=)
|
|
|
|
NM_003803.4(MYOM1):c.2690G>A (p.Ser897Asn)
|
|
|
|
NM_003803.4(MYOM1):c.2701_2702delinsTG (p.Glu901Ter)
|
|
|
|
NM_003803.4(MYOM1):c.2711A>C (p.Gln904Pro)
|
rs2079841139
|
|
|
NM_003803.4(MYOM1):c.2713G>T (p.Glu905Ter)
|
rs2079840976
|
|
|
NM_003803.4(MYOM1):c.2728C>G (p.Pro910Ala)
|
|
|
|
NM_003803.4(MYOM1):c.2731C>T (p.Pro911Ser)
|
|
|
|
NM_003803.4(MYOM1):c.2744C>G (p.Ala915Gly)
|
|
|
|
NM_003803.4(MYOM1):c.2746C>T (p.Pro916Ser)
|
|
|
|
NM_003803.4(MYOM1):c.274T>G (p.Tyr92Asp)
|
|
|
|
NM_003803.4(MYOM1):c.2750_2751del (p.Gln917fs)
|
rs1555620787
|
|
|
NM_003803.4(MYOM1):c.2759G>C (p.Ser920Thr)
|
rs2079839250
|
|
|
NM_003803.4(MYOM1):c.2770C>A (p.Pro924Thr)
|
|
|
|
NM_003803.4(MYOM1):c.2790_2793del (p.Asp930fs)
|
rs764298096
|
|
|
NM_003803.4(MYOM1):c.2794+6A>G
|
|
|
|
NM_003803.4(MYOM1):c.2795-3C>T
|
rs1038647698
|
|
|
NM_003803.4(MYOM1):c.281C>T (p.Ser94Phe)
|
|
|
|
NM_003803.4(MYOM1):c.2822C>T (p.Thr941Ile)
|
|
|
|
NM_003803.4(MYOM1):c.2839C>T (p.Arg947Cys)
|
|
|
|
NM_003803.4(MYOM1):c.2846C>G (p.Ser949Ter)
|
|
|
|
NM_003803.4(MYOM1):c.286C>G (p.His96Asp)
|
|
|
|
NM_003803.4(MYOM1):c.290+1G>C
|
|
|
|
NM_003803.4(MYOM1):c.2903A>C (p.Tyr968Ser)
|
|
|
|
NM_003803.4(MYOM1):c.2915A>G (p.Tyr972Cys)
|
rs2143864654
|
|
|
NM_003803.4(MYOM1):c.2917C>T (p.Arg973Cys)
|
|
|
|
NM_003803.4(MYOM1):c.2938C>T (p.Pro980Ser)
|
|
|
|
NM_003803.4(MYOM1):c.2946del (p.Lys982fs)
|
rs1191782014
|
|
|
NM_003803.4(MYOM1):c.2960A>G (p.Asn987Ser)
|
|
|
|
NM_003803.4(MYOM1):c.2965A>C (p.Lys989Gln)
|
rs775037346
|
|
|
NM_003803.4(MYOM1):c.2977G>A (p.Glu993Lys)
|
rs749399014
|
|
|
NM_003803.4(MYOM1):c.2991+1G>T
|
|
|
|
NM_003803.4(MYOM1):c.2991+4A>C
|
|
|
|
NM_003803.4(MYOM1):c.2999A>G (p.Asn1000Ser)
|
|
|
|
NM_003803.4(MYOM1):c.3000C>G (p.Asn1000Lys)
|
|
|
|
NM_003803.4(MYOM1):c.3012C>G (p.Asn1004Lys)
|
|
|
|
NM_003803.4(MYOM1):c.3014T>A (p.Met1005Lys)
|
|
|
|
NM_003803.4(MYOM1):c.3032T>C (p.Val1011Ala)
|
|
|
|
NM_003803.4(MYOM1):c.3041T>C (p.Met1014Thr)
|
|
|
|
NM_003803.4(MYOM1):c.3053G>C (p.Gly1018Ala)
|
|
|
|
NM_003803.4(MYOM1):c.3056_3060dup (p.Ala1021fs)
|
rs776378986
|
|
|
NM_003803.4(MYOM1):c.3064C>T (p.Pro1022Ser)
|
rs2143833136
|
|
|
NM_003803.4(MYOM1):c.3067T>C (p.Ser1023Pro)
|
rs2079660727
|
|
|
NM_003803.4(MYOM1):c.3072A>G (p.Ala1024=)
|
|
|
|
NM_003803.4(MYOM1):c.3074T>G (p.Val1025Gly)
|
|
|
|
NM_003803.4(MYOM1):c.3078C>G (p.Ser1026Arg)
|
rs984812597
|
|
|
NM_003803.4(MYOM1):c.3083G>A (p.Cys1028Tyr)
|
|
|
|
NM_003803.4(MYOM1):c.3083G>T (p.Cys1028Phe)
|
rs2079660280
|
|
|
NM_003803.4(MYOM1):c.3089A>C (p.Lys1030Thr)
|
|
|
|
NM_003803.4(MYOM1):c.3093T>A (p.Cys1031Ter)
|
rs2079660011
|
|
|
NM_003803.4(MYOM1):c.3097G>T (p.Glu1033Ter)
|
rs377512048
|
|
|
NM_003803.4(MYOM1):c.3106A>G (p.Ile1036Val)
|
rs2079659653
|
|
|
NM_003803.4(MYOM1):c.3112G>A (p.Val1038Ile)
|
|
|
|
NM_003803.4(MYOM1):c.3153G>C (p.Arg1051Ser)
|
|
|
|
NM_003803.4(MYOM1):c.3158A>C (p.Asp1053Ala)
|
rs200545815
|
|
|
NM_003803.4(MYOM1):c.3159C>G (p.Asp1053Glu)
|
|
|
|
NM_003803.4(MYOM1):c.315A>C (p.Leu105Phe)
|
rs991834729
|
|
|
NM_003803.4(MYOM1):c.3162dup (p.Leu1055fs)
|
|
|
|
NM_003803.4(MYOM1):c.3173A>G (p.Gln1058Arg)
|
|
|
|
NM_003803.4(MYOM1):c.3180G>C (p.Lys1060Asn)
|
|
|
|
NM_003803.4(MYOM1):c.3199C>T (p.Arg1067Trp)
|
|
|
|
NM_003803.4(MYOM1):c.3229T>A (p.Leu1077Met)
|
rs769859396
|
|
|
NM_003803.4(MYOM1):c.3262C>T (p.Arg1088Ter)
|
|
|
|
NM_003803.4(MYOM1):c.3263G>A (p.Arg1088Gln)
|
|
|
|
NM_003803.4(MYOM1):c.3268C>G (p.Leu1090Val)
|
|
|
|
NM_003803.4(MYOM1):c.3274G>A (p.Glu1092Lys)
|
|
|
|
NM_003803.4(MYOM1):c.3281C>T (p.Ala1094Val)
|
|
|
|
NM_003803.4(MYOM1):c.3284T>C (p.Ile1095Thr)
|
|
|
|
NM_003803.4(MYOM1):c.3295T>C (p.Tyr1099His)
|
|
|
|
NM_003803.4(MYOM1):c.3303+4del
|
rs745861417
|
|
|
NM_003803.4(MYOM1):c.3304-2A>G
|
|
|
|
NM_003803.4(MYOM1):c.3304-3C>G
|
rs2079541369
|
|
|
NM_003803.4(MYOM1):c.3323G>A (p.Gly1108Asp)
|
|
|
|
NM_003803.4(MYOM1):c.3332A>G (p.Tyr1111Cys)
|
|
|
|
NM_003803.4(MYOM1):c.3334G>A (p.Val1112Met)
|
|
|
|
NM_003803.4(MYOM1):c.3334G>T (p.Val1112Leu)
|
rs200102315
|
|
|
NM_003803.4(MYOM1):c.3347G>A (p.Arg1116Gln)
|
|
|
|
NM_003803.4(MYOM1):c.3347G>C (p.Arg1116Pro)
|
|
|
|
NM_003803.4(MYOM1):c.3352A>G (p.Ile1118Val)
|
rs965953541
|
|
|
NM_003803.4(MYOM1):c.3364G>C (p.Gly1122Arg)
|
|
|
|
NM_003803.4(MYOM1):c.3365G>A (p.Gly1122Glu)
|
|
|
|
NM_003803.4(MYOM1):c.3368T>C (p.Val1123Ala)
|
|
|
|
NM_003803.4(MYOM1):c.3404C>T (p.Ala1135Val)
|
|
|
|
NM_003803.4(MYOM1):c.3409A>T (p.Thr1137Ser)
|
rs2143800832
|
|
|
NM_003803.4(MYOM1):c.3410C>T (p.Thr1137Ile)
|
rs763744233
|
|
|
NM_003803.4(MYOM1):c.3418+6C>A
|
|
|
|
NM_003803.4(MYOM1):c.3428A>C (p.Glu1143Ala)
|
|
|
|
NM_003803.4(MYOM1):c.3430G>T (p.Val1144Phe)
|
rs1567906657
|
|
|
NM_003803.4(MYOM1):c.3455del (p.Gly1152fs)
|
rs2079395612
|
|
|
NM_003803.4(MYOM1):c.3479G>A (p.Cys1160Tyr)
|
|
|
|
NM_003803.4(MYOM1):c.3481G>C (p.Asp1161His)
|
rs2079394843
|
|
|
NM_003803.4(MYOM1):c.349A>G (p.Lys117Glu)
|
|
|
|
NM_003803.4(MYOM1):c.3513G>A (p.Trp1171Ter)
|
rs2079393948
|
|
|
NM_003803.4(MYOM1):c.3530C>T (p.Ser1177Phe)
|
rs1598671752
|
|
|
NM_003803.4(MYOM1):c.3539A>C (p.Asp1180Ala)
|
rs188319622
|
|
|
NM_003803.4(MYOM1):c.3552G>T (p.Leu1184Phe)
|
|
|
|
NM_003803.4(MYOM1):c.3559G>A (p.Glu1187Lys)
|
rs747613137
|
|
|
NM_003803.4(MYOM1):c.3562A>G (p.Ser1188Gly)
|
rs2079392310
|
|
|
NM_003803.4(MYOM1):c.3569G>A (p.Gly1190Asp)
|
|
|
|
NM_003803.4(MYOM1):c.3575+5G>A
|
rs1253220145
|
|
|
NM_003803.4(MYOM1):c.3575A>G (p.Lys1192Arg)
|
|
|
|
NM_003803.4(MYOM1):c.3580A>G (p.Lys1194Glu)
|
rs2143753722
|
|
|
NM_003803.4(MYOM1):c.3587C>T (p.Thr1196Ile)
|
|
|
|
NM_003803.4(MYOM1):c.3595G>T (p.Asp1199Tyr)
|
|
|
|
NM_003803.4(MYOM1):c.3610G>T (p.Asp1204Tyr)
|
|
|
|
NM_003803.4(MYOM1):c.3643A>G (p.Thr1215Ala)
|
|
|
|
NM_003803.4(MYOM1):c.365G>A (p.Ser122Asn)
|
|
|
|
NM_003803.4(MYOM1):c.3683A>G (p.Glu1228Gly)
|
|
|
|
NM_003803.4(MYOM1):c.3727+5G>A
|
|
|
|
NM_003803.4(MYOM1):c.3755T>C (p.Val1252Ala)
|
rs764372608
|
|
|
NM_003803.4(MYOM1):c.3778G>T (p.Val1260Phe)
|
|
|
|
NM_003803.4(MYOM1):c.3796G>A (p.Ala1266Thr)
|
rs554969785
|
|
|
NM_003803.4(MYOM1):c.3815A>G (p.Asn1272Ser)
|
|
|
|
NM_003803.4(MYOM1):c.3820A>G (p.Lys1274Glu)
|
|
|
|
NM_003803.4(MYOM1):c.3823del (p.Val1275fs)
|
|
|
|
NM_003803.4(MYOM1):c.3830A>G (p.Tyr1277Cys)
|
|
|
|
NM_003803.4(MYOM1):c.3832A>G (p.Ile1278Val)
|
rs2079266432
|
|
|
NM_003803.4(MYOM1):c.3857A>G (p.Glu1286Gly)
|
rs2143726019
|
|
|
NM_003803.4(MYOM1):c.3864+3A>C
|
rs766295696
|
|
|
NM_003803.4(MYOM1):c.3864G>A (p.Pro1288=)
|
rs753756333
|
|
|
NM_003803.4(MYOM1):c.3898A>G (p.Ile1300Val)
|
|
|
|
NM_003803.4(MYOM1):c.3935A>G (p.Asp1312Gly)
|
|
|
|
NM_003803.4(MYOM1):c.3944C>G (p.Thr1315Arg)
|
rs748195985
|
|
|
NM_003803.4(MYOM1):c.3944C>T (p.Thr1315Met)
|
rs748195985
|
|
|
NM_003803.4(MYOM1):c.3953dup (p.Gln1319fs)
|
|
|
|
NM_003803.4(MYOM1):c.395T>G (p.Leu132Trp)
|
rs1555629260
|
|
|
NM_003803.4(MYOM1):c.3968del (p.Gly1323fs)
|
rs1377047086
|
|
|
NM_003803.4(MYOM1):c.396G>T (p.Leu132Phe)
|
|
|
|
NM_003803.4(MYOM1):c.397C>T (p.Pro133Ser)
|
rs2080954710
|
|
|
NM_003803.4(MYOM1):c.3982C>A (p.His1328Asn)
|
|
|
|
NM_003803.4(MYOM1):c.3991G>A (p.Val1331Ile)
|
rs1486084771
|
|
|
NM_003803.4(MYOM1):c.3992T>C (p.Val1331Ala)
|
rs1567900049
|
|
|
NM_003803.4(MYOM1):c.3_4insA (p.Ser2fs)
|
|
|
|
NM_003803.4(MYOM1):c.4004G>A (p.Gly1335Glu)
|
|
|
|
NM_003803.4(MYOM1):c.4009+1G>A
|
|
|
|
NM_003803.4(MYOM1):c.400A>G (p.Ser134Gly)
|
rs1567961770
|
|
|
NM_003803.4(MYOM1):c.4010-1G>A
|
rs2143706018
|
|
|
NM_003803.4(MYOM1):c.4010-8A>G
|
|
|
|
NM_003803.4(MYOM1):c.4070-1G>C
|
|
|
|
NM_003803.4(MYOM1):c.409A>G (p.Met137Val)
|
|
|
|
NM_003803.4(MYOM1):c.4106C>T (p.Thr1369Ile)
|
|
|
|
NM_003803.4(MYOM1):c.4114T>G (p.Cys1372Gly)
|
rs765299084
|
|
|
NM_003803.4(MYOM1):c.4124T>C (p.Leu1375Pro)
|
rs2143704467
|
|
|
NM_003803.4(MYOM1):c.4137+5G>C
|
|
|
|
NM_003803.4(MYOM1):c.4163A>T (p.His1388Leu)
|
|
|
|
NM_003803.4(MYOM1):c.4166T>A (p.Ile1389Asn)
|
|
|
|
NM_003803.4(MYOM1):c.4175A>G (p.Tyr1392Cys)
|
rs2079150468
|
|
|
NM_003803.4(MYOM1):c.4192A>C (p.Ile1398Leu)
|
rs377324484
|
|
|
NM_003803.4(MYOM1):c.4207A>C (p.Lys1403Gln)
|
rs779356078
|
|
|
NM_003803.4(MYOM1):c.4208A>G (p.Lys1403Arg)
|
|
|
|
NM_003803.4(MYOM1):c.4213G>A (p.Asp1405Asn)
|
|
|
|
NM_003803.4(MYOM1):c.4231T>C (p.Cys1411Arg)
|
|
|
|
NM_003803.4(MYOM1):c.4251+6C>T
|
|
|
|
NM_003803.4(MYOM1):c.4255T>C (p.Ser1419Pro)
|
|
|
|
NM_003803.4(MYOM1):c.4261A>G (p.Lys1421Glu)
|
rs2143688119
|
|
|
NM_003803.4(MYOM1):c.4295A>G (p.Asp1432Gly)
|
|
|
|
NM_003803.4(MYOM1):c.42_62dup (p.Asp21_Val22insLeuSerTyrArgAsnLysAsp)
|
|
|
|
NM_003803.4(MYOM1):c.432-2A>G
|
|
|
|
NM_003803.4(MYOM1):c.4322T>C (p.Leu1441Pro)
|
|
|
|
NM_003803.4(MYOM1):c.4326del (p.Lys1442fs)
|
|
|
|
NM_003803.4(MYOM1):c.4327C>T (p.Leu1443Phe)
|
|
|
|
NM_003803.4(MYOM1):c.4333G>A (p.Asp1445Asn)
|
|
|
|
NM_003803.4(MYOM1):c.4346dup (p.Glu1450fs)
|
rs2143684013
|
|
|
NM_003803.4(MYOM1):c.4361_4362del (p.Glu1454fs)
|
|
|
|
NM_003803.4(MYOM1):c.4362A>G (p.Glu1454=)
|
|
|
|
NM_003803.4(MYOM1):c.4379C>G (p.Ala1460Gly)
|
|
|
|
NM_003803.4(MYOM1):c.43C>T (p.Leu15Phe)
|
|
|
|
NM_003803.4(MYOM1):c.43_169dup (p.Glu57fs)
|
rs2081245746
|
|
|
NM_003803.4(MYOM1):c.4415C>G (p.Ala1472Gly)
|
rs2143683130
|
|
|
NM_003803.4(MYOM1):c.4417G>A (p.Glu1473Lys)
|
|
|
|
NM_003803.4(MYOM1):c.4421G>A (p.Gly1474Asp)
|
|
|
|
NM_003803.4(MYOM1):c.442G>A (p.Val148Ile)
|
|
|
|
NM_003803.4(MYOM1):c.4450T>C (p.Tyr1484His)
|
|
|
|
NM_003803.4(MYOM1):c.4453G>A (p.Val1485Met)
|
|
|
|
NM_003803.4(MYOM1):c.4466A>G (p.Lys1489Arg)
|
|
|
|
NM_003803.4(MYOM1):c.4481A>G (p.His1494Arg)
|
|
|
|
NM_003803.4(MYOM1):c.4484+1G>A
|
|
|
|
NM_003803.4(MYOM1):c.4484+3A>C
|
|
|
|
NM_003803.4(MYOM1):c.4492G>A (p.Ala1498Thr)
|
|
|
|
NM_003803.4(MYOM1):c.4509_4512del (p.Asp1503fs)
|
rs1473638124
|
|
|
NM_003803.4(MYOM1):c.4522G>A (p.Gly1508Arg)
|
|
|
|
NM_003803.4(MYOM1):c.4558G>A (p.Glu1520Lys)
|
|
|
|
NM_003803.4(MYOM1):c.4570A>G (p.Asn1524Asp)
|
|
|
|
NM_003803.4(MYOM1):c.4573G>A (p.Asp1525Asn)
|
rs2079056471
|
|
|
NM_003803.4(MYOM1):c.457G>C (p.Asp153His)
|
rs2144151532
|
|
|
NM_003803.4(MYOM1):c.4607G>A (p.Gly1536Asp)
|
|
|
|
NM_003803.4(MYOM1):c.4621C>T (p.Gln1541Ter)
|
|
|
|
NM_003803.4(MYOM1):c.4630G>A (p.Val1544Met)
|
rs2143660426
|
|
|
NM_003803.4(MYOM1):c.4630del (p.Val1544fs)
|
rs781638129
|
|
|
NM_003803.4(MYOM1):c.4633G>C (p.Asp1545His)
|
rs780950239
|
|
|
NM_003803.4(MYOM1):c.4647A>G (p.Gln1549=)
|
|
|
|
NM_003803.4(MYOM1):c.4648+3A>G
|
rs2143660291
|
|
|
NM_003803.4(MYOM1):c.4649-20_4649-19delinsGG
|
|
|
|
NM_003803.4(MYOM1):c.4649C>T (p.Ala1550Val)
|
rs775657868
|
|
|
NM_003803.4(MYOM1):c.4657G>A (p.Glu1553Lys)
|
rs1261394354
|
|
|
NM_003803.4(MYOM1):c.4670A>T (p.Glu1557Val)
|
rs1598646701
|
|
|
NM_003803.4(MYOM1):c.4685+3_4685+6del
|
rs758870863
|
|
|
NM_003803.4(MYOM1):c.468A>T (p.Glu156Asp)
|
|
|
|
NM_003803.4(MYOM1):c.4708+5_4708+8del
|
rs1176683166
|
|
|
NM_003803.4(MYOM1):c.4718G>C (p.Arg1573Pro)
|
rs117342470
|
|
|
NM_003803.4(MYOM1):c.4720G>A (p.Val1574Met)
|
rs1408010275
|
|
|
NM_003803.4(MYOM1):c.4720G>C (p.Val1574Leu)
|
rs1408010275
|
|
|
NM_003803.4(MYOM1):c.473G>T (p.Arg158Ile)
|
rs748886234
|
|
|
NM_003803.4(MYOM1):c.4750A>G (p.Ile1584Val)
|
|
|
|
NM_003803.4(MYOM1):c.4752C>G (p.Ile1584Met)
|
rs1290988538
|
|
|
NM_003803.4(MYOM1):c.4765-12C>G
|
|
|
|
NM_003803.4(MYOM1):c.4765-13A>G
|
|
|
|
NM_003803.4(MYOM1):c.4772A>G (p.Asn1591Ser)
|
|
|
|
NM_003803.4(MYOM1):c.4801C>T (p.Pro1601Ser)
|
rs765962328
|
|
|
NM_003803.4(MYOM1):c.4805C>T (p.Pro1602Leu)
|
|
|
|
NM_003803.4(MYOM1):c.4807G>A (p.Glu1603Lys)
|
rs2143602854
|
|
|
NM_003803.4(MYOM1):c.4820T>C (p.Leu1607Ser)
|
|
|
|
NM_003803.4(MYOM1):c.4826A>G (p.Asn1609Ser)
|
|
|
|
NM_003803.4(MYOM1):c.4849G>A (p.Asp1617Asn)
|
|
|
|
NM_003803.4(MYOM1):c.4883C>T (p.Thr1628Ile)
|
rs2078909787
|
|
|
NM_003803.4(MYOM1):c.4885G>T (p.Ala1629Ser)
|
rs763189783
|
|
|
NM_003803.4(MYOM1):c.4886_4887dup (p.Tyr1630fs)
|
rs2078909692
|
|
|
NM_003803.4(MYOM1):c.4906G>A (p.Val1636Met)
|
rs773263720
|
|
|
NM_003803.4(MYOM1):c.4909A>T (p.Ser1637Cys)
|
|
|
|
NM_003803.4(MYOM1):c.4916C>T (p.Ala1639Val)
|
|
|
|
NM_003803.4(MYOM1):c.4922C>G (p.Ser1641Trp)
|
|
|
|
NM_003803.4(MYOM1):c.4922C>T (p.Ser1641Leu)
|
|
|
|
NM_003803.4(MYOM1):c.5002G>A (p.Glu1668Lys)
|
rs2078907224
|
|
|
NM_003803.4(MYOM1):c.5018C>T (p.Ala1673Val)
|
|
|
|
NM_003803.4(MYOM1):c.5038G>C (p.Gly1680Arg)
|
|
|
|
NM_003803.4(MYOM1):c.5039_5040inv (p.Gly1680Asp)
|
|
|
|
NM_003803.4(MYOM1):c.5040_5041inv (p.Gly1681Ser)
|
|
|
|
NM_003803.4(MYOM1):c.5055_5056insA (p.Ter1686MetextTer?)
|
|
|
|
NM_003803.4(MYOM1):c.508A>T (p.Asn170Tyr)
|
|
|
|
NM_003803.4(MYOM1):c.535A>G (p.Thr179Ala)
|
rs2144151014
|
|
|
NM_003803.4(MYOM1):c.544A>C (p.Lys182Gln)
|
rs1567958675
|
|
|
NM_003803.4(MYOM1):c.548A>G (p.Gln183Arg)
|
rs1032691291
|
|
|
NM_003803.4(MYOM1):c.563A>G (p.Lys188Arg)
|
|
|
|
NM_003803.4(MYOM1):c.566A>G (p.Gln189Arg)
|
rs373424159
|
|
|
NM_003803.4(MYOM1):c.568A>T (p.Thr190Ser)
|
|
|
|
NM_003803.4(MYOM1):c.568_603dup (p.Thr190_Gln201dup)
|
rs745347160
|
|
|
NM_003803.4(MYOM1):c.568_621del (p.Thr190_Gln207del)
|
rs2080863497
|
|
|
NM_003803.4(MYOM1):c.579_614del (p.194KQSTAS[1])
|
|
|
|
NM_003803.4(MYOM1):c.579_632del (p.Lys194_Ser211del)
|
rs2080863291
|
|
|
NM_003803.4(MYOM1):c.591_608del (p.194KQSTAS[2])
|
|
|
|
NM_003803.4(MYOM1):c.599_634del (p.194KQSTAS[1])
|
rs777649711
|
|
|
NM_003803.4(MYOM1):c.599_634dup (p.Ser211_Arg212insLysGlnSerThrAlaSerLysGlnSerThrAlaSer)
|
|
|
|
NM_003803.4(MYOM1):c.609_626del (p.194KQSTAS[2])
|
rs1211124611
|
|
|
NM_003803.4(MYOM1):c.60G>C (p.Lys20Asn)
|
|
|
|
NM_003803.4(MYOM1):c.611C>A (p.Ala204Glu)
|
rs375742037
|
|
|
NM_003803.4(MYOM1):c.617_634dup (p.194KQSTAS[4])
|
rs755975362
|
|
|
NM_003803.4(MYOM1):c.620A>G (p.Gln207Arg)
|
rs1044246355
|
|
|
NM_003803.4(MYOM1):c.624CACGGCATCCAGGCAGTC[1] (p.209TASRQS[1])
|
rs754986396
|
|
|
NM_003803.4(MYOM1):c.624CACGGCATCCAGGCAGTC[3] (p.209TASRQS[3])
|
rs754986396
|
|
|
NM_003803.4(MYOM1):c.635G>C (p.Arg212Thr)
|
rs200770047
|
|
|
NM_003803.4(MYOM1):c.637C>T (p.Gln213Ter)
|
|
|
|
NM_003803.4(MYOM1):c.639G>C (p.Gln213His)
|
rs2080862895
|
|
|
NM_003803.4(MYOM1):c.643_660del (p.209TASRQS[1])
|
rs2080862040
|
|
|
NM_003803.4(MYOM1):c.644_645insAGCATCCAAGCAGTCCACGGCATCCAGGCAGTCCACAGCATCCAAGCAGTCCACAGCATCCAAGCAGTCCACGGCATCCAAGCAGTCCACAGCATCCAAGCAGTCCACGGCATCCAGGCAGTCCAT (p.Ser217_Arg218insLysGlnSerThrAlaSerArgGlnSerThrAlaSerLysGlnSerThrAlaSerLysGlnSerThrAlaSerLysGlnSerThrAlaSerLysGlnSerThrAlaSerArgGlnSerMetAlaSer)
|
|
|
|
NM_003803.4(MYOM1):c.64G>A (p.Val22Met)
|
rs1791085
|
|
|
NM_003803.4(MYOM1):c.64G>T (p.Val22Leu)
|
rs1791085
|
|
|
NM_003803.4(MYOM1):c.64_65insACCGCAACAAGGACC (p.Val22delinsAspArgAsnLysAspLeu)
|
|
|
|
NM_003803.4(MYOM1):c.64_65insATCTCAGCTACCGCAACAAGGACC (p.Val22delinsAspLeuSerTyrArgAsnLysAspLeu)
|
rs752587435
|
|
|
NM_003803.4(MYOM1):c.64_66delinsCCC (p.Val22Pro)
|
rs386800438
|
|
|
NM_003803.4(MYOM1):c.677C>A (p.Ala226Asp)
|
|
|
|
NM_003803.4(MYOM1):c.685G>T (p.Ala229Ser)
|
|
|
|
NM_003803.4(MYOM1):c.697G>A (p.Glu233Lys)
|
|
|
|
NM_003803.4(MYOM1):c.712AAG[1] (p.Lys239del)
|
rs2080860533
|
|
|
NM_003803.4(MYOM1):c.730G>C (p.Val244Leu)
|
|
|
|
NM_003803.4(MYOM1):c.737G>A (p.Arg246Gln)
|
|
|
|
NM_003803.4(MYOM1):c.751C>T (p.Arg251Cys)
|
rs992528328
|
|
|
NM_003803.4(MYOM1):c.75C>G (p.Thr25=)
|
rs763316478
|
|
|
NM_003803.4(MYOM1):c.767A>G (p.Lys256Arg)
|
|
|
|
NM_003803.4(MYOM1):c.770_771del (p.Thr257fs)
|
rs1598754120
|
|
|
NM_003803.4(MYOM1):c.771+6A>G
|
|
|
|
NM_003803.4(MYOM1):c.793C>T (p.His265Tyr)
|
|
|
|
NM_003803.4(MYOM1):c.806A>G (p.Asn269Ser)
|
rs1304345327
|
|
|
NM_003803.4(MYOM1):c.814C>T (p.His272Tyr)
|
rs1555628272
|
|
|
NM_003803.4(MYOM1):c.836T>C (p.Phe279Ser)
|
rs2144142432
|
|
|
NM_003803.4(MYOM1):c.847C>T (p.Pro283Ser)
|
rs2080835710
|
|
|
NM_003803.4(MYOM1):c.850C>G (p.Arg284Gly)
|
rs1001422774
|
|
|
NM_003803.4(MYOM1):c.851G>A (p.Arg284His)
|
|
|
|
NM_003803.4(MYOM1):c.853T>C (p.Ser285Pro)
|
|
|
|
NM_003803.4(MYOM1):c.861G>A (p.Thr287=)
|
|
|
|
NM_003803.4(MYOM1):c.878A>G (p.Asn293Ser)
|
rs2144142229
|
|
|
NM_003803.4(MYOM1):c.881dup (p.Leu296fs)
|
rs2080834815
|
|
|
NM_003803.4(MYOM1):c.907T>G (p.Trp303Gly)
|
rs775851893
|
|
|
NM_003803.4(MYOM1):c.91C>T (p.Arg31Trp)
|
|
|
|
NM_003803.4(MYOM1):c.926dup (p.Trp310fs)
|
|
|
|
NM_003803.4(MYOM1):c.928T>A (p.Trp310Arg)
|
rs1567957308
|
|
|
NM_003803.4(MYOM1):c.929+3A>G
|
|
|
|
NM_003803.4(MYOM1):c.970G>C (p.Gly324Arg)
|
|
|
|
NM_003803.4(MYOM1):c.980T>C (p.Ile327Thr)
|
rs1598744290
|
|
|
NM_003803.4(MYOM1):c.991C>T (p.Arg331Ter)
|
|
|
|
NM_004100.5(EYA4):c.1010A>G (p.Lys337Arg)
|
rs755172395
|
|
|
NM_004100.5(EYA4):c.1020T>A (p.Asp340Glu)
|
|
|
|
NM_004100.5(EYA4):c.1031G>A (p.Cys344Tyr)
|
rs2128707567
|
|
|
NM_004100.5(EYA4):c.103C>G (p.Leu35Val)
|
rs35562371
|
|
|
NM_004100.5(EYA4):c.1042G>A (p.Gly348Arg)
|
|
|
|
NM_004100.5(EYA4):c.1042G>C (p.Gly348Arg)
|
rs1279116848
|
|
|
NM_004100.5(EYA4):c.1043G>A (p.Gly348Glu)
|
rs2128707600
|
|
|
NM_004100.5(EYA4):c.1064G>A (p.Gly355Asp)
|
|
|
|
NM_004100.5(EYA4):c.1066C>T (p.Arg356Trp)
|
|
|
|
NM_004100.5(EYA4):c.1095T>G (p.Asp365Glu)
|
rs779806687
|
|
|
NM_004100.5(EYA4):c.1096A>G (p.Ser366Gly)
|
rs1562471411
|
|
|
NM_004100.5(EYA4):c.110G>A (p.Ser37Asn)
|
|
|
|
NM_004100.5(EYA4):c.1134A>T (p.Glu378Asp)
|
rs2128711218
|
|
|
NM_004100.5(EYA4):c.1144G>C (p.Val382Leu)
|
|
|
|
NM_004100.5(EYA4):c.1165G>A (p.Gly389Arg)
|
|
|
|
NM_004100.5(EYA4):c.116A>G (p.His39Arg)
|
|
|
|
NM_004100.5(EYA4):c.1191+4_1191+5insT
|
|
|
|
NM_004100.5(EYA4):c.1191+6_1191+8del
|
|
|
|
NM_004100.5(EYA4):c.1192G>T (p.Asp398Tyr)
|
rs906659742
|
|
|
NM_004100.5(EYA4):c.1195C>T (p.Pro399Ser)
|
|
|
|
NM_004100.5(EYA4):c.119C>T (p.Thr40Ile)
|
|
|
|
NM_004100.5(EYA4):c.1202T>C (p.Met401Thr)
|
|
|
|
NM_004100.5(EYA4):c.1204G>T (p.Ala402Ser)
|
|
|
|
NM_004100.5(EYA4):c.121C>A (p.Leu41Ile)
|
|
|
|
NM_004100.5(EYA4):c.1226T>G (p.Met409Arg)
|
|
|
|
NM_004100.5(EYA4):c.1231G>A (p.Glu411Lys)
|
rs776989348
|
|
|
NM_004100.5(EYA4):c.1234A>T (p.Met412Leu)
|
rs1562498166
|
|
|
NM_004100.5(EYA4):c.1241T>C (p.Phe414Ser)
|
rs1798601379
|
|
|
NM_004100.5(EYA4):c.1243A>C (p.Asn415His)
|
|
|
|
NM_004100.5(EYA4):c.1249G>T (p.Ala417Ser)
|
|
|
|
NM_004100.5(EYA4):c.1259A>G (p.His420Arg)
|
rs1798603267
|
|
|
NM_004100.5(EYA4):c.1261T>G (p.Leu421Val)
|
rs2128760917
|
|
|
NM_004100.5(EYA4):c.1263G>T (p.Leu421Phe)
|
rs762982137
|
|
|
NM_004100.5(EYA4):c.1271A>G (p.Asn424Ser)
|
|
|
|
NM_004100.5(EYA4):c.1276T>A (p.Leu426Ile)
|
|
|
|
NM_004100.5(EYA4):c.1284G>C (p.Glu428Asp)
|
|
|
|
NM_004100.5(EYA4):c.1286G>C (p.Cys429Ser)
|
rs1446619876
|
|
|
NM_004100.5(EYA4):c.1294G>T (p.Val432Phe)
|
rs145253833
|
|
|
NM_004100.5(EYA4):c.1301T>C (p.Ile434Thr)
|
rs766340934
|
|
|
NM_004100.5(EYA4):c.1304ATG[1] (p.Asp436del)
|
rs1409560811
|
|
|
NM_004100.5(EYA4):c.1306G>A (p.Asp436Asn)
|
rs2128781857
|
|
|
NM_004100.5(EYA4):c.1309G>A (p.Val437Ile)
|
rs751490042
|
|
|
NM_004100.5(EYA4):c.1316C>T (p.Ser439Phe)
|
|
|
|
NM_004100.5(EYA4):c.1318G>C (p.Asp440His)
|
|
|
|
NM_004100.5(EYA4):c.1320T>G (p.Asp440Glu)
|
rs1799267406
|
|
|
NM_004100.5(EYA4):c.1324A>G (p.Asn442Asp)
|
|
|
|
NM_004100.5(EYA4):c.1330C>A (p.Gln444Lys)
|
|
|
|
NM_004100.5(EYA4):c.1332G>T (p.Gln444His)
|
rs1360697925
|
|
|
NM_004100.5(EYA4):c.1333G>A (p.Asp445Asn)
|
rs977646583
|
|
|
NM_004100.5(EYA4):c.1343C>T (p.Thr448Ile)
|
|
|
|
NM_004100.5(EYA4):c.1346A>G (p.Tyr449Cys)
|
|
|
|
NM_004100.5(EYA4):c.1358C>A (p.Thr453Asn)
|
rs1321644184
|
|
|
NM_004100.5(EYA4):c.136G>C (p.Asp46His)
|
|
|
|
NM_004100.5(EYA4):c.1370A>G (p.His457Arg)
|
rs2128782282
|
|
|
NM_004100.5(EYA4):c.137A>G (p.Asp46Gly)
|
rs1439822731
|
|
|
NM_004100.5(EYA4):c.1385G>T (p.Ser462Ile)
|
|
|
|
NM_004100.5(EYA4):c.1390A>G (p.Asn464Asp)
|
|
|
|
NM_004100.5(EYA4):c.1394T>C (p.Leu465Pro)
|
rs1799281130
|
|
|
NM_004100.5(EYA4):c.1404A>C (p.Pro468=)
|
|
|
|
NM_004100.5(EYA4):c.1408G>A (p.Gly470Ser)
|
rs2128782369
|
|
|
NM_004100.5(EYA4):c.1415G>A (p.Arg472Lys)
|
|
|
|
NM_004100.5(EYA4):c.1417G>A (p.Gly473Arg)
|
|
|
|
NM_004100.5(EYA4):c.1419A>T (p.Gly473=)
|
rs2128782398
|
|
|
NM_004100.5(EYA4):c.1432A>T (p.Met478Leu)
|
|
|
|
NM_004100.5(EYA4):c.1434G>A (p.Met478Ile)
|
rs1187396214
|
|
|
NM_004100.5(EYA4):c.1439A>T (p.Lys480Met)
|
|
|
|
NM_004100.5(EYA4):c.1443G>T (p.Leu481Phe)
|
|
|
|
NM_004100.5(EYA4):c.1451G>A (p.Arg484His)
|
rs78414369
|
|
|
NM_004100.5(EYA4):c.1467A>C (p.Lys489Asn)
|
|
|
|
NM_004100.5(EYA4):c.1468G>A (p.Glu490Lys)
|
|
|
|
NM_004100.5(EYA4):c.1478A>G (p.Asn493Ser)
|
|
|
|
NM_004100.5(EYA4):c.1496T>G (p.Val499Gly)
|
|
|
|
NM_004100.5(EYA4):c.1502-6T>C
|
rs1583528465
|
|
|
NM_004100.5(EYA4):c.1502G>C (p.Gly501Ala)
|
rs767782223
|
|
|
NM_004100.5(EYA4):c.1507C>T (p.Leu503Phe)
|
|
|
|
NM_004100.5(EYA4):c.1516G>A (p.Ala506Thr)
|
|
|
|
NM_004100.5(EYA4):c.1520A>C (p.Lys507Thr)
|
|
|
|
NM_004100.5(EYA4):c.1523G>A (p.Arg508Lys)
|
rs543789215
|
|
|
NM_004100.5(EYA4):c.1528G>A (p.Ala510Thr)
|
|
|
|
NM_004100.5(EYA4):c.1528G>T (p.Ala510Ser)
|
|
|
|
NM_004100.5(EYA4):c.152C>T (p.Ser51Phe)
|
rs542906126
|
|
|
NM_004100.5(EYA4):c.1533G>C (p.Trp511Cys)
|
|
|
|
NM_004100.5(EYA4):c.1546G>A (p.Ala516Thr)
|
|
|
|
NM_004100.5(EYA4):c.1547C>T (p.Ala516Val)
|
rs2128790097
|
|
|
NM_004100.5(EYA4):c.1549G>A (p.Glu517Lys)
|
|
|
|
NM_004100.5(EYA4):c.1553T>C (p.Ile518Thr)
|
|
|
|
NM_004100.5(EYA4):c.155A>C (p.Lys52Thr)
|
rs763983145
|
|
|
NM_004100.5(EYA4):c.155A>G (p.Lys52Arg)
|
|
|
|
NM_004100.5(EYA4):c.1571C>T (p.Ser524Phe)
|
rs1799504670
|
|
|
NM_004100.5(EYA4):c.1583A>G (p.Asn528Ser)
|
|
|
|
NM_004100.5(EYA4):c.1600T>A (p.Ser534Thr)
|
|
|
|
NM_004100.5(EYA4):c.1610G>A (p.Ser537Asn)
|
rs2128790258
|
|
|
NM_004100.5(EYA4):c.1616G>C (p.Arg539Thr)
|
|
|
|
NM_004100.5(EYA4):c.1617-5T>A
|
|
|
|
NM_004100.5(EYA4):c.161A>T (p.Glu54Val)
|
|
|
|
NM_004100.5(EYA4):c.1625G>A (p.Cys542Tyr)
|
|
|
|
NM_004100.5(EYA4):c.1627A>G (p.Ile543Val)
|
rs1800325384
|
|
|
NM_004100.5(EYA4):c.1627A>T (p.Ile543Leu)
|
|
|
|
NM_004100.5(EYA4):c.1633G>A (p.Val545Ile)
|
rs1583560856
|
|
|
NM_004100.5(EYA4):c.1648A>G (p.Thr550Ala)
|
|
|
|
NM_004100.5(EYA4):c.1675G>T (p.Val559Phe)
|
|
|
|
NM_004100.5(EYA4):c.1679T>C (p.Leu560Pro)
|
rs1052000923
|
|
|
NM_004100.5(EYA4):c.1708A>G (p.Ile570Val)
|
|
|
|
NM_004100.5(EYA4):c.1709T>C (p.Ile570Thr)
|
|
|
|
NM_004100.5(EYA4):c.172C>A (p.Leu58Ile)
|
rs1562431794
|
|
|
NM_004100.5(EYA4):c.1738G>A (p.Gly580Arg)
|
|
|
|
NM_004100.5(EYA4):c.1739-14_1739-6del
|
|
|
|
NM_004100.5(EYA4):c.1747A>G (p.Ser583Gly)
|
|
|
|
NM_004100.5(EYA4):c.1748G>T (p.Ser583Ile)
|
|
|
|
NM_004100.5(EYA4):c.1750T>C (p.Cys584Arg)
|
|
|
|
NM_004100.5(EYA4):c.1750T>G (p.Cys584Gly)
|
|
|
|
NM_004100.5(EYA4):c.1760G>A (p.Arg587Gln)
|
|
|
|
NM_004100.5(EYA4):c.1760G>C (p.Arg587Pro)
|
rs746014018
|
|
|
NM_004100.5(EYA4):c.1766T>C (p.Met589Thr)
|
|
|
|
NM_004100.5(EYA4):c.1769A>G (p.Gln590Arg)
|
|
|
|
NM_004100.5(EYA4):c.1778G>C (p.Gly593Ala)
|
|
|
|
NM_004100.5(EYA4):c.1783A>C (p.Lys595Gln)
|
rs1344051266
|
|
|
NM_004100.5(EYA4):c.1786G>A (p.Val596Ile)
|
|
|
|
NM_004100.5(EYA4):c.1786G>T (p.Val596Leu)
|
rs890246005
|
|
|
NM_004100.5(EYA4):c.1793A>G (p.Tyr598Cys)
|
rs1800533785
|
|
|
NM_004100.5(EYA4):c.1795G>A (p.Val599Ile)
|
rs1197096901
|
|
|
NM_004100.5(EYA4):c.1798G>A (p.Val600Ile)
|
|
|
|
NM_004100.5(EYA4):c.1801A>G (p.Ile601Val)
|
|
|
|
NM_004100.5(EYA4):c.1802T>C (p.Ile601Thr)
|
|
|
|
NM_004100.5(EYA4):c.1803T>G (p.Ile601Met)
|
rs1554276013
|
|
|
NM_004100.5(EYA4):c.1804G>T (p.Gly602Trp)
|
rs2128817494
|
|
|
NM_004100.5(EYA4):c.1807G>A (p.Asp603Asn)
|
rs2128817509
|
|
|
NM_004100.5(EYA4):c.1808A>C (p.Asp603Ala)
|
|
|
|
NM_004100.5(EYA4):c.1816GAA[2] (p.Glu608del)
|
rs763110500
|
|
|
NM_004100.5(EYA4):c.1828_1829delinsAA (p.Ala610Lys)
|
rs1583568153
|
|
|
NM_004100.5(EYA4):c.1829_1830delinsAG (p.Ala610Glu)
|
|
|
|
NM_004100.5(EYA4):c.1839+4A>C
|
rs2128817661
|
|
|
NM_004100.5(EYA4):c.1839+6C>T
|
rs1554276050
|
|
|
NM_004100.5(EYA4):c.1840-2dup
|
rs2128827320
|
|
|
NM_004100.5(EYA4):c.1907T>G (p.Leu636Ter)
|
|
|
|
NM_004100.5(EYA4):c.190_191insAAA (p.Val63_Thr64insLys)
|
|
|
|
NM_004100.5(EYA4):c.197A>G (p.Asn66Ser)
|
rs1792883329
|
|
|
NM_004100.5(EYA4):c.209-10C>A
|
rs1562433382
|
|
|
NM_004100.5(EYA4):c.215A>G (p.Asn72Ser)
|
rs200688814
|
|
|
NM_004100.5(EYA4):c.218T>A (p.Met73Lys)
|
|
|
|
NM_004100.5(EYA4):c.221C>G (p.Thr74Ser)
|
|
|
|
NM_004100.5(EYA4):c.221C>T (p.Thr74Ile)
|
rs2128625983
|
|
|
NM_004100.5(EYA4):c.223G>C (p.Val75Leu)
|
rs1793039802
|
|
|
NM_004100.5(EYA4):c.235G>A (p.Ala79Thr)
|
|
|
|
NM_004100.5(EYA4):c.23A>G (p.Asn8Ser)
|
|
|
|
NM_004100.5(EYA4):c.243G>C (p.Trp81Cys)
|
rs2128626064
|
|
|
NM_004100.5(EYA4):c.24T>G (p.Asn8Lys)
|
|
|
|
NM_004100.5(EYA4):c.251G>A (p.Ser84Asn)
|
rs1215782368
|
|
|
NM_004100.5(EYA4):c.257A>G (p.Asn86Ser)
|
rs779810823
|
|
|
NM_004100.5(EYA4):c.262C>A (p.Pro88Thr)
|
|
|
|
NM_004100.5(EYA4):c.263C>T (p.Pro88Leu)
|
|
|
|
NM_004100.5(EYA4):c.26A>C (p.Glu9Ala)
|
rs1191543342
|
|
|
NM_004100.5(EYA4):c.277+3A>G
|
rs1583306088
|
|
|
NM_004100.5(EYA4):c.278T>C (p.Met93Thr)
|
rs1344229695
|
|
|
NM_004100.5(EYA4):c.281C>A (p.Ser94Tyr)
|
rs2128644139
|
|
|
NM_004100.5(EYA4):c.290C>G (p.Ala97Gly)
|
|
|
|
NM_004100.5(EYA4):c.304C>G (p.Pro102Ala)
|
|
|
|
NM_004100.5(EYA4):c.30A>G (p.Gln10=)
|
rs1060502996
|
|
|
NM_004100.5(EYA4):c.313A>C (p.Ser105Arg)
|
rs1060502994
|
|
|
NM_004100.5(EYA4):c.314G>A (p.Ser105Asn)
|
rs2128644229
|
|
|
NM_004100.5(EYA4):c.315C>T (p.Ser105=)
|
|
|
|
NM_004100.5(EYA4):c.319G>A (p.Glu107Lys)
|
rs1793927066
|
|
|
NM_004100.5(EYA4):c.329C>T (p.Ala110Val)
|
|
|
|
NM_004100.5(EYA4):c.32C>T (p.Ser11Leu)
|
rs1394230343
|
|
|
NM_004100.5(EYA4):c.33+5G>C
|
rs1777030034
|
|
|
NM_004100.5(EYA4):c.332C>T (p.Thr111Met)
|
rs772111281
|
|
|
NM_004100.5(EYA4):c.338G>C (p.Gly113Ala)
|
|
|
|
NM_004100.5(EYA4):c.374T>C (p.Ile125Thr)
|
rs770929581
|
|
|
NM_004100.5(EYA4):c.377C>G (p.Thr126Arg)
|
|
|
|
NM_004100.5(EYA4):c.37A>G (p.Lys13Glu)
|
|
|
|
NM_004100.5(EYA4):c.386G>T (p.Gly129Val)
|
rs1554261713
|
|
|
NM_004100.5(EYA4):c.38A>G (p.Lys13Arg)
|
|
|
|
NM_004100.5(EYA4):c.394C>A (p.Pro132Thr)
|
|
|
|
NM_004100.5(EYA4):c.413A>G (p.Tyr138Cys)
|
rs1794347562
|
|
|
NM_004100.5(EYA4):c.428A>G (p.Tyr143Cys)
|
rs749021618
|
|
|
NM_004100.5(EYA4):c.437+11A>G
|
|
|
|
NM_004100.5(EYA4):c.437+14A>G
|
|
|
|
NM_004100.5(EYA4):c.437+3A>G
|
|
|
|
NM_004100.5(EYA4):c.437+7G>C
|
|
|
|
NM_004100.5(EYA4):c.437A>G (p.Lys146Arg)
|
rs2128655388
|
|
|
NM_004100.5(EYA4):c.438-8A>G
|
rs1794468551
|
|
|
NM_004100.5(EYA4):c.438G>T (p.Lys146Asn)
|
rs2128658396
|
|
|
NM_004100.5(EYA4):c.43A>G (p.Thr15Ala)
|
rs1359824142
|
|
|
NM_004100.5(EYA4):c.443A>T (p.Tyr148Phe)
|
rs939001947
|
|
|
NM_004100.5(EYA4):c.44C>A (p.Thr15Lys)
|
rs769070323
|
|
|
NM_004100.5(EYA4):c.44C>G (p.Thr15Arg)
|
|
|
|
NM_004100.5(EYA4):c.452T>C (p.Ile151Thr)
|
rs2128658440
|
|
|
NM_004100.5(EYA4):c.458C>G (p.Ser153Cys)
|
rs1554261941
|
|
|
NM_004100.5(EYA4):c.468A>T (p.Ala156=)
|
|
|
|
NM_004100.5(EYA4):c.488A>G (p.Tyr163Cys)
|
|
|
|
NM_004100.5(EYA4):c.493G>A (p.Gly165Ser)
|
|
|
|
NM_004100.5(EYA4):c.494G>A (p.Gly165Asp)
|
rs1794475262
|
|
|
NM_004100.5(EYA4):c.506A>G (p.Tyr169Cys)
|
rs2128658614
|
|
|
NM_004100.5(EYA4):c.510G>A (p.Ser170=)
|
|
|
|
NM_004100.5(EYA4):c.542A>G (p.Tyr181Cys)
|
|
|
|
NM_004100.5(EYA4):c.549G>T (p.Gln183His)
|
rs267600815
|
|
|
NM_004100.5(EYA4):c.565A>G (p.Ser189Gly)
|
|
|
|
NM_004100.5(EYA4):c.566G>T (p.Ser189Ile)
|
rs760755612
|
|
|
NM_004100.5(EYA4):c.574A>G (p.Thr192Ala)
|
|
|
|
NM_004100.5(EYA4):c.578A>G (p.Tyr193Cys)
|
|
|
|
NM_004100.5(EYA4):c.580+4T>C
|
|
|
|
NM_004100.5(EYA4):c.580+5T>G
|
|
|
|
NM_004100.5(EYA4):c.587G>A (p.Gly196Asp)
|
rs776796938
|
|
|
NM_004100.5(EYA4):c.587G>C (p.Gly196Ala)
|
|
|
|
NM_004100.5(EYA4):c.590T>C (p.Val197Ala)
|
rs1794499562
|
|
|
NM_004100.5(EYA4):c.619G>A (p.Gly207Arg)
|
rs1794501902
|
|
|
NM_004100.5(EYA4):c.625T>C (p.Ser209Pro)
|
|
|
|
NM_004100.5(EYA4):c.62T>G (p.Val21Gly)
|
rs1786300577
|
|
|
NM_004100.5(EYA4):c.638C>A (p.Ser213Tyr)
|
|
|
|
NM_004100.5(EYA4):c.641C>A (p.Pro214Gln)
|
rs878854624
|
|
|
NM_004100.5(EYA4):c.652G>T (p.Gly218Cys)
|
|
|
|
NM_004100.5(EYA4):c.667A>G (p.Ser223Gly)
|
rs2128659458
|
|
|
NM_004100.5(EYA4):c.680C>T (p.Ser227Phe)
|
|
|
|
NM_004100.5(EYA4):c.686C>A (p.Pro229Gln)
|
|
|
|
NM_004100.5(EYA4):c.686C>T (p.Pro229Leu)
|
rs769220102
|
|
|
NM_004100.5(EYA4):c.690G>C (p.Gln230His)
|
|
|
|
NM_004100.5(EYA4):c.695G>T (p.Gly232Val)
|
|
|
|
NM_004100.5(EYA4):c.701C>T (p.Thr234Ile)
|
|
|
|
NM_004100.5(EYA4):c.706T>C (p.Tyr236His)
|
|
|
|
NM_004100.5(EYA4):c.712T>C (p.Tyr238His)
|
|
|
|
NM_004100.5(EYA4):c.715C>G (p.Gln239Glu)
|
rs2128659661
|
|
|
NM_004100.5(EYA4):c.724G>A (p.Gly242Ser)
|
|
|
|
NM_004100.5(EYA4):c.725-19A>G
|
rs751251924
|
|
|
NM_004100.5(EYA4):c.740C>G (p.Pro247Arg)
|
|
|
|
NM_004100.5(EYA4):c.749C>G (p.Thr250Ser)
|
|
|
|
NM_004100.5(EYA4):c.757G>A (p.Ala253Thr)
|
|
|
|
NM_004100.5(EYA4):c.764A>G (p.Asn255Ser)
|
|
|
|
NM_004100.5(EYA4):c.781A>G (p.Thr261Ala)
|
|
|
|
NM_004100.5(EYA4):c.782C>G (p.Thr261Arg)
|
|
|
|
NM_004100.5(EYA4):c.782C>T (p.Thr261Met)
|
rs959547878
|
|
|
NM_004100.5(EYA4):c.793G>A (p.Gly265Ser)
|
|
|
|
NM_004100.5(EYA4):c.7G>A (p.Asp3Asn)
|
|
|
|
NM_004100.5(EYA4):c.806A>T (p.Asp269Val)
|
rs1562457061
|
|
|
NM_004100.5(EYA4):c.809A>G (p.Tyr270Cys)
|
rs1048564742
|
|
|
NM_004100.5(EYA4):c.818A>C (p.Tyr273Ser)
|
|
|
|
NM_004100.5(EYA4):c.824C>A (p.Ala275Asp)
|
|
|
|
NM_004100.5(EYA4):c.824C>T (p.Ala275Val)
|
rs748654006
|
|
|
NM_004100.5(EYA4):c.83+6G>C
|
rs200479266
|
|
|
NM_004100.5(EYA4):c.83+6G>T
|
|
|
|
NM_004100.5(EYA4):c.842A>T (p.Tyr281Phe)
|
rs558399007
|
|
|
NM_004100.5(EYA4):c.865A>C (p.Thr289Pro)
|
|
|
|
NM_004100.5(EYA4):c.869A>G (p.Tyr290Cys)
|
rs1795052577
|
|
|
NM_004100.5(EYA4):c.86C>G (p.Ser29Cys)
|
|
|
|
NM_004100.5(EYA4):c.872G>A (p.Gly291Glu)
|
|
|
|
NM_004100.5(EYA4):c.874G>A (p.Ala292Thr)
|
rs1195889018
|
|
|
NM_004100.5(EYA4):c.875C>G (p.Ala292Gly)
|
|
|
|
NM_004100.5(EYA4):c.884C>T (p.Thr295Ile)
|
|
|
|
NM_004100.5(EYA4):c.88A>C (p.Met30Leu)
|
rs1026869914
|
|
|
NM_004100.5(EYA4):c.893A>C (p.Asn298Thr)
|
|
|
|
NM_004100.5(EYA4):c.898G>T (p.Ala300Ser)
|
rs1795055897
|
|
|
NM_004100.5(EYA4):c.899C>T (p.Ala300Val)
|
rs757252384
|
|
|
NM_004100.5(EYA4):c.89T>G (p.Met30Arg)
|
|
|
|
NM_004100.5(EYA4):c.902A>G (p.Asp301Gly)
|
|
|
|
NM_004100.5(EYA4):c.914C>T (p.Ser305Phe)
|
rs1795057880
|
|
|
NM_004100.5(EYA4):c.920C>A (p.Thr307Asn)
|
|
|
|
NM_004100.5(EYA4):c.923C>G (p.Ser308Cys)
|
|
|
|
NM_004100.5(EYA4):c.929A>G (p.Tyr310Cys)
|
|
|
|
NM_004100.5(EYA4):c.929A>T (p.Tyr310Phe)
|
|
|
|
NM_004100.5(EYA4):c.943T>A (p.Ser315Thr)
|
|
|
|
NM_004100.5(EYA4):c.949C>G (p.Pro317Ala)
|
rs1554263071
|
|
|
NM_004100.5(EYA4):c.955C>G (p.Leu319Val)
|
rs370874438
|
|
|
NM_004100.5(EYA4):c.961A>C (p.Asn321His)
|
rs202049252
|
|
|
NM_004100.5(EYA4):c.963C>A (p.Asn321Lys)
|
|
|
|
NM_004100.5(EYA4):c.966A>T (p.Gln322His)
|
|
|
|
NM_004100.5(EYA4):c.969A>T (p.Pro323=)
|
|
|
|
NM_004100.5(EYA4):c.970+3A>G
|
rs1358062338
|
|
|
NM_004100.5(EYA4):c.970+6del
|
|
|
|
NM_004100.5(EYA4):c.974A>C (p.Glu325Ala)
|
|
|
|
NM_004100.5(EYA4):c.978C>G (p.Phe326Leu)
|
rs773095472
|
|
|
NM_004100.5(EYA4):c.979G>C (p.Asp327His)
|
rs144415484
|
|
|
NM_004100.5(EYA4):c.983C>T (p.Thr328Ile)
|
rs897811426
|
|
|
NM_004100.5(EYA4):c.985A>T (p.Met329Leu)
|
|
|
|
NM_004100.5(EYA4):c.98A>C (p.Gln33Pro)
|
|
|
|
NM_004100.5(EYA4):c.994C>T (p.Pro332Ser)
|
rs1583410927
|
|
|
NM_004100.5(EYA4):c.995C>T (p.Pro332Leu)
|
|
|
|
NM_004281.4(BAG3):c.1026C>G (p.Ile342Met)
|
|
|
|
NM_004281.4(BAG3):c.1028G>A (p.Arg343His)
|
rs774085746
|
|
|
NM_004281.4(BAG3):c.1028G>T (p.Arg343Leu)
|
rs774085746
|
|
|
NM_004281.4(BAG3):c.1032A>T (p.Lys344Asn)
|
rs2134068785
|
|
|
NM_004281.4(BAG3):c.103G>T (p.Gly35Cys)
|
rs200072558
|
|
|
NM_004281.4(BAG3):c.1047A>T (p.Lys349Asn)
|
|
|
|
NM_004281.4(BAG3):c.104G>A (p.Gly35Asp)
|
|
|
|
NM_004281.4(BAG3):c.1054T>A (p.Ser352Thr)
|
|
|
|
NM_004281.4(BAG3):c.1054T>C (p.Ser352Pro)
|
|
|
|
NM_004281.4(BAG3):c.1055C>G (p.Ser352Cys)
|
rs1564776574
|
|
|
NM_004281.4(BAG3):c.1060A>G (p.Lys354Glu)
|
|
|
|
NM_004281.4(BAG3):c.1063C>T (p.Pro355Ser)
|
rs761188869
|
|
|
NM_004281.4(BAG3):c.1070C>T (p.Pro357Leu)
|
|
|
|
NM_004281.4(BAG3):c.1078G>C (p.Glu360Gln)
|
rs2134068848
|
|
|
NM_004281.4(BAG3):c.1083G>C (p.Lys361Asn)
|
rs1060504722
|
|
|
NM_004281.4(BAG3):c.1084G>A (p.Val362Ile)
|
|
|
|
NM_004281.4(BAG3):c.1088A>C (p.Glu363Ala)
|
rs1345725468
|
|
|
NM_004281.4(BAG3):c.1093A>C (p.Lys365Gln)
|
|
|
|
NM_004281.4(BAG3):c.1096G>A (p.Val366Ile)
|
rs1215731985
|
|
|
NM_004281.4(BAG3):c.1100C>T (p.Pro367Leu)
|
|
|
|
NM_004281.4(BAG3):c.1105G>C (p.Ala369Pro)
|
rs772900053
|
|
|
NM_004281.4(BAG3):c.1106C>T (p.Ala369Val)
|
|
|
|
NM_004281.4(BAG3):c.1114C>T (p.Pro372Ser)
|
|
|
|
NM_004281.4(BAG3):c.1118G>C (p.Cys373Ser)
|
rs876657745
|
|
|
NM_004281.4(BAG3):c.1121C>G (p.Pro374Arg)
|
|
|
|
NM_004281.4(BAG3):c.1121C>T (p.Pro374Leu)
|
rs770517568
|
|
|
NM_004281.4(BAG3):c.1126C>T (p.Pro376Ser)
|
rs1180366101
|
|
|
NM_004281.4(BAG3):c.1127C>A (p.Pro376His)
|
rs2134068908
|
|
|
NM_004281.4(BAG3):c.112TTC[1] (p.Phe39del)
|
rs1064796808
|
|
|
NM_004281.4(BAG3):c.1133C>G (p.Pro378Arg)
|
rs1847240427
|
|
|
NM_004281.4(BAG3):c.1148T>C (p.Val383Ala)
|
|
|
|
NM_004281.4(BAG3):c.1155_1157dup (p.Ser386dup)
|
rs751357335
|
|
|
NM_004281.4(BAG3):c.1156T>G (p.Ser386Ala)
|
rs1554877763
|
|
|
NM_004281.4(BAG3):c.1159C>T (p.Pro387Ser)
|
rs780162994
|
|
|
NM_004281.4(BAG3):c.115T>A (p.Phe39Ile)
|
|
|
|
NM_004281.4(BAG3):c.1165A>G (p.Ser389Gly)
|
|
|
|
NM_004281.4(BAG3):c.1167T>G (p.Ser389Arg)
|
|
|
|
NM_004281.4(BAG3):c.1169T>G (p.Val390Gly)
|
|
|
|
NM_004281.4(BAG3):c.116T>C (p.Phe39Ser)
|
rs1472915271
|
|
|
NM_004281.4(BAG3):c.1174A>G (p.Thr392Ala)
|
rs2134068984
|
|
|
NM_004281.4(BAG3):c.1187C>T (p.Ala396Val)
|
rs769416305
|
|
|
NM_004281.4(BAG3):c.1199C>T (p.Thr400Ile)
|
rs1060502817
|
|
|
NM_004281.4(BAG3):c.1202C>T (p.Ala401Val)
|
rs775153939
|
|
|
NM_004281.4(BAG3):c.1210G>A (p.Glu404Lys)
|
rs1165453591
|
|
|
NM_004281.4(BAG3):c.1213G>T (p.Ala405Ser)
|
rs1416464425
|
|
|
NM_004281.4(BAG3):c.1219C>T (p.Pro407Ser)
|
|
|
|
NM_004281.4(BAG3):c.1225A>C (p.Lys409Gln)
|
|
|
|
NM_004281.4(BAG3):c.122A>G (p.Asp41Gly)
|
rs2134050615
|
|
|
NM_004281.4(BAG3):c.1232_1234del (p.Gly411del)
|
rs761727804
|
|
|
NM_004281.4(BAG3):c.1238C>G (p.Ala413Gly)
|
|
|
|
NM_004281.4(BAG3):c.1241A>G (p.Glu414Gly)
|
rs2134069093
|
|
|
NM_004281.4(BAG3):c.1242G>C (p.Glu414Asp)
|
rs1847243505
|
|
|
NM_004281.4(BAG3):c.1243G>T (p.Ala415Ser)
|
rs1248733449
|
|
|
NM_004281.4(BAG3):c.1244C>A (p.Ala415Asp)
|
rs1847243574
|
|
|
NM_004281.4(BAG3):c.1246C>T (p.Pro416Ser)
|
|
|
|
NM_004281.4(BAG3):c.1249C>T (p.Pro417Ser)
|
rs1589632706
|
|
|
NM_004281.4(BAG3):c.1252A>G (p.Lys418Glu)
|
|
|
|
NM_004281.4(BAG3):c.1258C>G (p.Pro420Ala)
|
|
|
|
NM_004281.4(BAG3):c.1259C>A (p.Pro420Gln)
|
|
|
|
NM_004281.4(BAG3):c.1259C>T (p.Pro420Leu)
|
rs1303615373
|
|
|
NM_004281.4(BAG3):c.125A>G (p.His42Arg)
|
rs1846844504
|
|
|
NM_004281.4(BAG3):c.1262G>A (p.Gly421Glu)
|
rs886039025
|
|
|
NM_004281.4(BAG3):c.126C>G (p.His42Gln)
|
|
|
|
NM_004281.4(BAG3):c.1286T>C (p.Leu429Pro)
|
rs1847244354
|
|
|
NM_004281.4(BAG3):c.1293G>C (p.Lys431Asn)
|
|
|
|
NM_004281.4(BAG3):c.1298A>G (p.Gln433Arg)
|
rs886046755
|
|
|
NM_004281.4(BAG3):c.1307A>G (p.Glu436Gly)
|
rs1847245034
|
|
|
NM_004281.4(BAG3):c.1318G>A (p.Asp440Asn)
|
rs878854652
|
|
|
NM_004281.4(BAG3):c.1323C>G (p.Asn441Lys)
|
rs1325704409
|
|
|
NM_004281.4(BAG3):c.1334A>G (p.Lys445Arg)
|
|
|
|
NM_004281.4(BAG3):c.133C>A (p.Arg45Ser)
|
rs747820097
|
|
|
NM_004281.4(BAG3):c.133C>G (p.Arg45Gly)
|
|
|
|
NM_004281.4(BAG3):c.1355T>C (p.Leu452Pro)
|
|
|
|
NM_004281.4(BAG3):c.1361T>C (p.Ile454Thr)
|
|
|
|
NM_004281.4(BAG3):c.1362C>G (p.Ile454Met)
|
rs372417286
|
|
|
NM_004281.4(BAG3):c.1366G>A (p.Glu456Lys)
|
|
|
|
NM_004281.4(BAG3):c.1368G>C (p.Glu456Asp)
|
|
|
|
NM_004281.4(BAG3):c.1369T>C (p.Tyr457His)
|
rs1470778691
|
|
|
NM_004281.4(BAG3):c.136A>T (p.Thr46Ser)
|
rs771633629
|
|
|
NM_004281.4(BAG3):c.1379A>G (p.Lys460Arg)
|
|
|
|
NM_004281.4(BAG3):c.137C>T (p.Thr46Ile)
|
|
|
|
NM_004281.4(BAG3):c.1394T>C (p.Leu465Pro)
|
rs1564776841
|
|
|
NM_004281.4(BAG3):c.1396G>A (p.Asp466Asn)
|
rs1564776847
|
|
|
NM_004281.4(BAG3):c.1408C>A (p.Pro470Thr)
|
|
|
|
NM_004281.4(BAG3):c.1409C>T (p.Pro470Leu)
|
rs779539475
|
|
|
NM_004281.4(BAG3):c.1411G>C (p.Glu471Gln)
|
|
|
|
NM_004281.4(BAG3):c.1414G>A (p.Gly472Arg)
|
rs1847246944
|
|
|
NM_004281.4(BAG3):c.1420G>A (p.Ala474Thr)
|
rs2134069318
|
|
|
NM_004281.4(BAG3):c.142A>C (p.Thr48Pro)
|
rs794728980
|
|
|
NM_004281.4(BAG3):c.1430G>A (p.Arg477His)
|
rs387906876
|
|
|
NM_004281.4(BAG3):c.143C>A (p.Thr48Lys)
|
rs1229267488
|
|
|
NM_004281.4(BAG3):c.1442G>C (p.Arg481Thr)
|
|
|
|
NM_004281.4(BAG3):c.1445dup (p.Asp482fs)
|
|
|
|
NM_004281.4(BAG3):c.1450G>A (p.Val484Ile)
|
|
|
|
NM_004281.4(BAG3):c.1451T>A (p.Val484Asp)
|
rs2134069365
|
|
|
NM_004281.4(BAG3):c.1453A>G (p.Arg485Gly)
|
rs2134069371
|
|
|
NM_004281.4(BAG3):c.1471T>G (p.Leu491Val)
|
|
|
|
NM_004281.4(BAG3):c.1480C>T (p.Leu494Phe)
|
|
|
|
NM_004281.4(BAG3):c.1481T>C (p.Leu494Pro)
|
|
|
|
NM_004281.4(BAG3):c.1489A>C (p.Lys497Gln)
|
|
|
|
NM_004281.4(BAG3):c.1491del (p.Ala498fs)
|
|
|
|
NM_004281.4(BAG3):c.1492G>T (p.Ala498Ser)
|
|
|
|
NM_004281.4(BAG3):c.1496T>C (p.Ile499Thr)
|
rs1405717595
|
|
|
NM_004281.4(BAG3):c.1496_1506del (p.Ile499fs)
|
|
|
|
NM_004281.4(BAG3):c.1498G>T (p.Asp500Tyr)
|
|
|
|
NM_004281.4(BAG3):c.149A>G (p.Asn50Ser)
|
|
|
|
NM_004281.4(BAG3):c.1504C>G (p.Pro502Ala)
|
rs1564776954
|
|
|
NM_004281.4(BAG3):c.1504C>T (p.Pro502Ser)
|
|
|
|
NM_004281.4(BAG3):c.1507G>A (p.Gly503Ser)
|
|
|
|
NM_004281.4(BAG3):c.1511_1521del (p.Gln504fs)
|
|
|
|
NM_004281.4(BAG3):c.1519del (p.Val507fs)
|
rs2134069410
|
|
|
NM_004281.4(BAG3):c.151G>A (p.Asp51Asn)
|
|
|
|
NM_004281.4(BAG3):c.1531C>A (p.Gln511Lys)
|
|
|
|
NM_004281.4(BAG3):c.1531C>T (p.Gln511Ter)
|
rs781630937
|
|
|
NM_004281.4(BAG3):c.1537A>G (p.Ser513Gly)
|
|
|
|
NM_004281.4(BAG3):c.1538G>C (p.Ser513Thr)
|
|
|
|
NM_004281.4(BAG3):c.1541A>G (p.Asn514Ser)
|
rs1564776999
|
|
|
NM_004281.4(BAG3):c.1543C>T (p.Leu515Phe)
|
|
|
|
NM_004281.4(BAG3):c.1549G>T (p.Ala517Ser)
|
|
|
|
NM_004281.4(BAG3):c.1552G>C (p.Asp518His)
|
|
|
|
NM_004281.4(BAG3):c.155C>G (p.Pro52Arg)
|
rs1846845477
|
|
|
NM_004281.4(BAG3):c.1565A>G (p.Gln522Arg)
|
|
|
|
NM_004281.4(BAG3):c.1567G>A (p.Ala523Thr)
|
|
|
|
NM_004281.4(BAG3):c.1570A>T (p.Ile524Phe)
|
rs764925485
|
|
|
NM_004281.4(BAG3):c.1573A>C (p.Met525Leu)
|
|
|
|
NM_004281.4(BAG3):c.1574T>C (p.Met525Thr)
|
rs2134069468
|
|
|
NM_004281.4(BAG3):c.1585G>T (p.Ala529Ser)
|
|
|
|
NM_004281.4(BAG3):c.1586C>T (p.Ala529Val)
|
rs369690617
|
|
|
NM_004281.4(BAG3):c.1591G>T (p.Ala531Ser)
|
|
|
|
NM_004281.4(BAG3):c.1598A>C (p.Asp533Ala)
|
rs2134069483
|
|
|
NM_004281.4(BAG3):c.1599C>A (p.Asp533Glu)
|
rs749576988
|
|
|
NM_004281.4(BAG3):c.1599C>G (p.Asp533Glu)
|
|
|
|
NM_004281.4(BAG3):c.1601A>G (p.Lys534Arg)
|
rs2134069486
|
|
|
NM_004281.4(BAG3):c.1601A>T (p.Lys534Met)
|
rs2134069486
|
|
|
NM_004281.4(BAG3):c.1604G>C (p.Gly535Ala)
|
|
|
|
NM_004281.4(BAG3):c.160G>C (p.Val54Leu)
|
rs1846845663
|
|
|
NM_004281.4(BAG3):c.1627G>C (p.Glu543Gln)
|
|
|
|
NM_004281.4(BAG3):c.1628A>C (p.Glu543Ala)
|
|
|
|
NM_004281.4(BAG3):c.1628A>G (p.Glu543Gly)
|
|
|
|
NM_004281.4(BAG3):c.1629A>T (p.Glu543Asp)
|
|
|
|
NM_004281.4(BAG3):c.1630G>A (p.Asp544Asn)
|
rs786205466
|
|
|
NM_004281.4(BAG3):c.1630G>C (p.Asp544His)
|
rs786205466
|
|
|
NM_004281.4(BAG3):c.1632_1658dup (p.Asp544_Pro552dup)
|
rs2134069510
|
|
|
NM_004281.4(BAG3):c.1632del (p.His546fs)
|
rs2134069512
|
|
|
NM_004281.4(BAG3):c.1633C>G (p.Pro545Ala)
|
|
|
|
NM_004281.4(BAG3):c.1639A>G (p.Thr547Ala)
|
|
|
|
NM_004281.4(BAG3):c.1646C>G (p.Thr549Ser)
|
|
|
|
NM_004281.4(BAG3):c.1646_1652del (p.Thr549fs)
|
|
|
|
NM_004281.4(BAG3):c.1649A>G (p.Gln550Arg)
|
rs2134069541
|
|
|
NM_004281.4(BAG3):c.1655_1692del (p.Pro552fs)
|
|
|
|
NM_004281.4(BAG3):c.1663_1666dup (p.Ala556fs)
|
rs1273311196
|
|
|
NM_004281.4(BAG3):c.1667C>A (p.Ala556Glu)
|
rs886046756
|
|
|
NM_004281.4(BAG3):c.1667C>T (p.Ala556Val)
|
rs886046756
|
|
|
NM_004281.4(BAG3):c.1669G>A (p.Ala557Thr)
|
rs1847253063
|
|
|
NM_004281.4(BAG3):c.1679C>G (p.Ser560Ter)
|
|
|
|
NM_004281.4(BAG3):c.1682A>C (p.Asn561Thr)
|
|
|
|
NM_004281.4(BAG3):c.1684C>A (p.Pro562Thr)
|
|
|
|
NM_004281.4(BAG3):c.1685C>G (p.Pro562Arg)
|
|
|
|
NM_004281.4(BAG3):c.1687A>C (p.Ser563Arg)
|
rs1240662655
|
|
|
NM_004281.4(BAG3):c.1687A>G (p.Ser563Gly)
|
|
|
|
NM_004281.4(BAG3):c.1693A>G (p.Met565Val)
|
rs756485989
|
|
|
NM_004281.4(BAG3):c.1693A>T (p.Met565Leu)
|
|
|
|
NM_004281.4(BAG3):c.1694T>A (p.Met565Lys)
|
|
|
|
NM_004281.4(BAG3):c.1699_1702dup (p.Thr568fs)
|
rs2134069586
|
|
|
NM_004281.4(BAG3):c.1702A>C (p.Thr568Pro)
|
rs1407009048
|
|
|
NM_004281.4(BAG3):c.1703C>G (p.Thr568Ser)
|
rs1564777190
|
|
|
NM_004281.4(BAG3):c.1709G>A (p.Gly570Asp)
|
|
|
|
NM_004281.4(BAG3):c.170A>G (p.Glu57Gly)
|
|
|
|
NM_004281.4(BAG3):c.1717dup (p.Ala573fs)
|
rs2134069610
|
|
|
NM_004281.4(BAG3):c.1724C>G (p.Pro575Arg)
|
rs748233260
|
|
|
NM_004281.4(BAG3):c.173G>T (p.Gly58Val)
|
rs138785335
|
|
|
NM_004281.4(BAG3):c.176C>G (p.Pro59Arg)
|
|
|
|
NM_004281.4(BAG3):c.180+5G>A
|
|
|
|
NM_004281.4(BAG3):c.180+5G>C
|
rs1435201335
|
|
|
NM_004281.4(BAG3):c.185C>T (p.Thr62Ile)
|
rs1847119419
|
|
|
NM_004281.4(BAG3):c.18C>G (p.His6Gln)
|
|
|
|
NM_004281.4(BAG3):c.199A>T (p.Asn67Tyr)
|
|
|
|
NM_004281.4(BAG3):c.1A>C (p.Met1Leu)
|
|
|
|
NM_004281.4(BAG3):c.200A>T (p.Asn67Ile)
|
|
|
|
NM_004281.4(BAG3):c.209C>T (p.Ser70Phe)
|
rs1847119887
|
|
|
NM_004281.4(BAG3):c.20C>T (p.Ser7Leu)
|
|
|
|
NM_004281.4(BAG3):c.22C>T (p.Pro8Ser)
|
rs2134050454
|
|
|
NM_004281.4(BAG3):c.233C>T (p.Pro78Leu)
|
rs1277311006
|
|
|
NM_004281.4(BAG3):c.239G>T (p.Arg80Met)
|
rs1847120690
|
|
|
NM_004281.4(BAG3):c.242A>G (p.Glu81Gly)
|
|
|
|
NM_004281.4(BAG3):c.250C>G (p.Pro84Ala)
|
|
|
|
NM_004281.4(BAG3):c.251C>G (p.Pro84Arg)
|
|
|
|
NM_004281.4(BAG3):c.259C>T (p.Pro87Ser)
|
|
|
|
NM_004281.4(BAG3):c.262C>G (p.Gln88Glu)
|
|
|
|
NM_004281.4(BAG3):c.266T>A (p.Leu89His)
|
rs1236900746
|
|
|
NM_004281.4(BAG3):c.269G>A (p.Arg90Gln)
|
|
|
|
NM_004281.4(BAG3):c.271C>T (p.Pro91Ser)
|
|
|
|
NM_004281.4(BAG3):c.272C>T (p.Pro91Leu)
|
rs1847121929
|
|
|
NM_004281.4(BAG3):c.277T>C (p.Tyr93His)
|
rs960439911
|
|
|
NM_004281.4(BAG3):c.277T>G (p.Tyr93Asp)
|
|
|
|
NM_004281.4(BAG3):c.27G>C (p.Met9Ile)
|
|
|
|
NM_004281.4(BAG3):c.280A>G (p.Ile94Val)
|
|
|
|
NM_004281.4(BAG3):c.283C>T (p.Pro95Ser)
|
|
|
|
NM_004281.4(BAG3):c.286A>C (p.Ile96Leu)
|
rs1299147536
|
|
|
NM_004281.4(BAG3):c.286A>G (p.Ile96Val)
|
|
|
|
NM_004281.4(BAG3):c.289C>G (p.Pro97Ala)
|
|
|
|
NM_004281.4(BAG3):c.289C>T (p.Pro97Ser)
|
rs747274078
|
|
|
NM_004281.4(BAG3):c.28A>G (p.Met10Val)
|
rs779929078
|
|
|
NM_004281.4(BAG3):c.2T>G (p.Met1Arg)
|
rs1846841605
|
|
|
NM_004281.4(BAG3):c.30G>A (p.Met10Ile)
|
rs1275338906
|
|
|
NM_004281.4(BAG3):c.30G>T (p.Met10Ile)
|
rs1275338906
|
|
|
NM_004281.4(BAG3):c.310G>C (p.Glu104Gln)
|
|
|
|
NM_004281.4(BAG3):c.317G>A (p.Arg106Gln)
|
rs1200121142
|
|
|
NM_004281.4(BAG3):c.31C>A (p.Gln11Lys)
|
|
|
|
NM_004281.4(BAG3):c.322G>C (p.Val108Leu)
|
rs730880053
|
|
|
NM_004281.4(BAG3):c.322G>T (p.Val108Leu)
|
rs730880053
|
|
|
NM_004281.4(BAG3):c.329C>G (p.Pro110Arg)
|
|
|
|
NM_004281.4(BAG3):c.329C>T (p.Pro110Leu)
|
rs749587347
|
|
|
NM_004281.4(BAG3):c.32A>T (p.Gln11Leu)
|
rs2134050474
|
|
|
NM_004281.4(BAG3):c.332T>C (p.Phe111Ser)
|
rs1847124056
|
|
|
NM_004281.4(BAG3):c.335A>G (p.His112Arg)
|
|
|
|
NM_004281.4(BAG3):c.340T>C (p.Tyr114His)
|
rs1589628873
|
|
|
NM_004281.4(BAG3):c.355A>G (p.Met119Val)
|
rs1334163509
|
|
|
NM_004281.4(BAG3):c.359A>G (p.Gln120Arg)
|
|
|
|
NM_004281.4(BAG3):c.359A>T (p.Gln120Leu)
|
rs1847125036
|
|
|
NM_004281.4(BAG3):c.375G>T (p.Glu125Asp)
|
rs2134063438
|
|
|
NM_004281.4(BAG3):c.377C>T (p.Ala126Val)
|
rs1847125430
|
|
|
NM_004281.4(BAG3):c.37G>C (p.Ala13Pro)
|
|
|
|
NM_004281.4(BAG3):c.38C>T (p.Ala13Val)
|
|
|
|
NM_004281.4(BAG3):c.391C>G (p.Pro131Ala)
|
rs140672627
|
|
|
NM_004281.4(BAG3):c.392C>T (p.Pro131Leu)
|
rs778224688
|
|
|
NM_004281.4(BAG3):c.410C>G (p.Pro137Arg)
|
rs781456794
|
|
|
NM_004281.4(BAG3):c.41C>T (p.Ser14Phe)
|
rs2134050488
|
|
|
NM_004281.4(BAG3):c.420C>T (p.Gly140=)
|
rs1847126515
|
|
|
NM_004281.4(BAG3):c.421A>G (p.Met141Val)
|
|
|
|
NM_004281.4(BAG3):c.430A>G (p.Thr144Ala)
|
|
|
|
NM_004281.4(BAG3):c.431_445dup (p.Thr144_Asp148dup)
|
rs2134063514
|
|
|
NM_004281.4(BAG3):c.445A>G (p.Lys149Glu)
|
rs2134063528
|
|
|
NM_004281.4(BAG3):c.451_452inv (p.Cys151His)
|
|
|
|
NM_004281.4(BAG3):c.458A>G (p.Gln153Arg)
|
|
|
|
NM_004281.4(BAG3):c.461T>C (p.Val154Ala)
|
rs1405459015
|
|
|
NM_004281.4(BAG3):c.462_464dup (p.Ala160dup)
|
rs1339191406
|
|
|
NM_004281.4(BAG3):c.464C>T (p.Ala155Val)
|
|
|
|
NM_004281.4(BAG3):c.465_467dup (p.Ala160_Gln161insAla)
|
|
|
|
NM_004281.4(BAG3):c.466G>A (p.Ala156Thr)
|
|
|
|
NM_004281.4(BAG3):c.467C>A (p.Ala156Glu)
|
rs572038196
|
|
|
NM_004281.4(BAG3):c.467C>T (p.Ala156Val)
|
rs572038196
|
|
|
NM_004281.4(BAG3):c.468GGC[2] (p.Ala160del)
|
|
|
|
NM_004281.4(BAG3):c.477_479dup (p.Ala160_Gln161insAla)
|
|
|
|
NM_004281.4(BAG3):c.478G>A (p.Ala160Thr)
|
|
|
|
NM_004281.4(BAG3):c.479C>T (p.Ala160Val)
|
|
|
|
NM_004281.4(BAG3):c.484C>A (p.Pro162Thr)
|
rs2134063622
|
|
|
NM_004281.4(BAG3):c.484C>T (p.Pro162Ser)
|
rs2134063622
|
|
|
NM_004281.4(BAG3):c.490G>T (p.Ala164Ser)
|
|
|
|
NM_004281.4(BAG3):c.499G>A (p.Gly167Arg)
|
rs543720798
|
|
|
NM_004281.4(BAG3):c.49G>C (p.Gly17Arg)
|
rs727502895
|
|
|
NM_004281.4(BAG3):c.502C>T (p.Pro168Ser)
|
rs1554877071
|
|
|
NM_004281.4(BAG3):c.507+5G>A
|
|
|
|
NM_004281.4(BAG3):c.507G>C (p.Glu169Asp)
|
rs1060502812
|
|
|
NM_004281.4(BAG3):c.508-3C>G
|
rs1400338528
|
|
|
NM_004281.4(BAG3):c.508-4_519dup
|
rs1847159825
|
|
|
NM_004281.4(BAG3):c.512C>A (p.Ser171Tyr)
|
rs794728978
|
|
|
NM_004281.4(BAG3):c.520C>G (p.Pro174Ala)
|
|
|
|
NM_004281.4(BAG3):c.520C>T (p.Pro174Ser)
|
rs1472073020
|
|
|
NM_004281.4(BAG3):c.529T>C (p.Ser177Pro)
|
|
|
|
NM_004281.4(BAG3):c.533A>G (p.Asp178Gly)
|
|
|
|
NM_004281.4(BAG3):c.534C>G (p.Asp178Glu)
|
rs1847160690
|
|
|
NM_004281.4(BAG3):c.535T>A (p.Cys179Ser)
|
|
|
|
NM_004281.4(BAG3):c.536G>A (p.Cys179Tyr)
|
|
|
|
NM_004281.4(BAG3):c.538T>C (p.Ser180Pro)
|
|
|
|
NM_004281.4(BAG3):c.538T>G (p.Ser180Ala)
|
|
|
|
NM_004281.4(BAG3):c.541_542delinsAA (p.Ser181Asn)
|
|
|
|
NM_004281.4(BAG3):c.545C>T (p.Ser182Leu)
|
rs1428247151
|
|
|
NM_004281.4(BAG3):c.547T>C (p.Ser183Pro)
|
rs772491154
|
|
|
NM_004281.4(BAG3):c.549CTC[1] (p.Ser185del)
|
rs763170019
|
|
|
NM_004281.4(BAG3):c.550T>A (p.Ser184Thr)
|
|
|
|
NM_004281.4(BAG3):c.550T>G (p.Ser184Ala)
|
|
|
|
NM_004281.4(BAG3):c.551C>T (p.Ser184Phe)
|
rs1450366653
|
|
|
NM_004281.4(BAG3):c.555G>A (p.Ser185=)
|
rs1247645930
|
|
|
NM_004281.4(BAG3):c.556G>C (p.Ala186Pro)
|
rs2134064990
|
|
|
NM_004281.4(BAG3):c.565_588del (p.Pro189_Leu196del)
|
|
|
|
NM_004281.4(BAG3):c.574G>T (p.Gly192Cys)
|
rs201487919
|
|
|
NM_004281.4(BAG3):c.576C>T (p.Gly192=)
|
rs1384999606
|
|
|
NM_004281.4(BAG3):c.580A>G (p.Ser194Gly)
|
|
|
|
NM_004281.4(BAG3):c.582C>G (p.Ser194Arg)
|
rs927441881
|
|
|
NM_004281.4(BAG3):c.583A>G (p.Ser195Gly)
|
|
|
|
NM_004281.4(BAG3):c.589G>A (p.Gly197Ser)
|
|
|
|
NM_004281.4(BAG3):c.58G>A (p.Asp20Asn)
|
rs1846842832
|
|
|
NM_004281.4(BAG3):c.590G>A (p.Gly197Asp)
|
|
|
|
NM_004281.4(BAG3):c.592A>T (p.Ser198Cys)
|
|
|
|
NM_004281.4(BAG3):c.5G>A (p.Ser2Asn)
|
rs1396002893
|
|
|
NM_004281.4(BAG3):c.600G>C (p.Gln200His)
|
rs768201611
|
|
|
NM_004281.4(BAG3):c.608G>A (p.Arg203Gln)
|
rs1057524225
|
|
|
NM_004281.4(BAG3):c.608G>C (p.Arg203Pro)
|
rs1057524225
|
|
|
NM_004281.4(BAG3):c.610G>A (p.Gly204Arg)
|
rs1187185992
|
|
|
NM_004281.4(BAG3):c.61C>G (p.Pro21Ala)
|
|
|
|
NM_004281.4(BAG3):c.622A>C (p.Ile208Leu)
|
rs1008797667
|
|
|
NM_004281.4(BAG3):c.622A>G (p.Ile208Val)
|
|
|
|
NM_004281.4(BAG3):c.623T>C (p.Ile208Thr)
|
rs1847163339
|
|
|
NM_004281.4(BAG3):c.628G>T (p.Val210Leu)
|
rs2134065126
|
|
|
NM_004281.4(BAG3):c.62C>G (p.Pro21Arg)
|
rs1589619881
|
|
|
NM_004281.4(BAG3):c.631A>G (p.Ile211Val)
|
|
|
|
NM_004281.4(BAG3):c.631A>T (p.Ile211Leu)
|
|
|
|
NM_004281.4(BAG3):c.634C>A (p.His212Asn)
|
rs752772180
|
|
|
NM_004281.4(BAG3):c.637G>A (p.Glu213Lys)
|
rs1311591078
|
|
|
NM_004281.4(BAG3):c.645C>A (p.Asn215Lys)
|
rs138078305
|
|
|
NM_004281.4(BAG3):c.655C>T (p.Pro219Ser)
|
rs1847164115
|
|
|
NM_004281.4(BAG3):c.658G>A (p.Ala220Thr)
|
rs1847164154
|
|
|
NM_004281.4(BAG3):c.665A>G (p.Gln222Arg)
|
|
|
|
NM_004281.4(BAG3):c.666G>T (p.Gln222His)
|
|
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|
NM_004281.4(BAG3):c.667C>A (p.Pro223Thr)
|
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|
NM_004281.4(BAG3):c.667C>G (p.Pro223Ala)
|
|
|
|
NM_004281.4(BAG3):c.668C>T (p.Pro223Leu)
|
rs754615028
|
|
|
NM_004281.4(BAG3):c.673T>C (p.Phe225Leu)
|
rs1847164443
|
|
|
NM_004281.4(BAG3):c.677A>G (p.His226Arg)
|
rs1554877252
|
|
|
NM_004281.4(BAG3):c.68C>T (p.Pro23Leu)
|
rs1846843077
|
|
|
NM_004281.4(BAG3):c.694C>G (p.His232Asp)
|
rs2134065202
|
|
|
NM_004281.4(BAG3):c.695A>C (p.His232Pro)
|
rs746241240
|
|
|
NM_004281.4(BAG3):c.70C>T (p.Pro24Ser)
|
rs2134050540
|
|
|
NM_004281.4(BAG3):c.711G>C (p.Gln237His)
|
rs369377620
|
|
|
NM_004281.4(BAG3):c.712G>A (p.Gly238Arg)
|
|
|
|
NM_004281.4(BAG3):c.714G>T (p.Gly238=)
|
|
|
|
NM_004281.4(BAG3):c.724A>G (p.Thr242Ala)
|
|
|
|
NM_004281.4(BAG3):c.729C>G (p.His243Gln)
|
|
|
|
NM_004281.4(BAG3):c.737T>C (p.Val246Ala)
|
rs766444344
|
|
|
NM_004281.4(BAG3):c.742C>T (p.His248Tyr)
|
|
|
|
NM_004281.4(BAG3):c.746A>G (p.Lys249Arg)
|
|
|
|
NM_004281.4(BAG3):c.750C>G (p.Ile250Met)
|
|
|
|
NM_004281.4(BAG3):c.761A>G (p.Asp254Gly)
|
rs2134065274
|
|
|
NM_004281.4(BAG3):c.76T>G (p.Trp26Gly)
|
rs1846843335
|
|
|
NM_004281.4(BAG3):c.773G>A (p.Arg258Gln)
|
rs746551805
|
|
|
NM_004281.4(BAG3):c.776C>T (p.Pro259Leu)
|
rs757710876
|
|
|
NM_004281.4(BAG3):c.781_795del (p.Arg261_Pro265del)
|
|
|
|
NM_004281.4(BAG3):c.782G>A (p.Arg261Gln)
|
rs746454994
|
|
|
NM_004281.4(BAG3):c.782G>C (p.Arg261Pro)
|
rs746454994
|
|
|
NM_004281.4(BAG3):c.784G>A (p.Ala262Thr)
|
rs876661343
|
|
|
NM_004281.4(BAG3):c.788C>T (p.Ala263Val)
|
rs1057523599
|
|
|
NM_004281.4(BAG3):c.7G>A (p.Ala3Thr)
|
|
|
|
NM_004281.4(BAG3):c.801G>T (p.Arg267Ser)
|
rs2134065343
|
|
|
NM_004281.4(BAG3):c.802T>C (p.Ser268Pro)
|
rs761965592
|
|
|
NM_004281.4(BAG3):c.806C>T (p.Ser269Phe)
|
|
|
|
NM_004281.4(BAG3):c.815G>A (p.Gly272Asp)
|
|
|
|
NM_004281.4(BAG3):c.815G>T (p.Gly272Val)
|
rs1589630345
|
|
|
NM_004281.4(BAG3):c.818C>T (p.Ala273Val)
|
rs1847166946
|
|
|
NM_004281.4(BAG3):c.830A>T (p.Glu277Val)
|
rs762471704
|
|
|
NM_004281.4(BAG3):c.833G>T (p.Gly278Val)
|
|
|
|
NM_004281.4(BAG3):c.84C>G (p.Ile28Met)
|
|
|
|
NM_004281.4(BAG3):c.851G>T (p.Ser284Ile)
|
|
|
|
NM_004281.4(BAG3):c.853A>G (p.Thr285Ala)
|
|
|
|
NM_004281.4(BAG3):c.865T>G (p.Ser289Ala)
|
rs1160709384
|
|
|
NM_004281.4(BAG3):c.868C>G (p.Pro290Ala)
|
|
|
|
NM_004281.4(BAG3):c.871T>A (p.Ser291Thr)
|
|
|
|
NM_004281.4(BAG3):c.874C>T (p.Pro292Ser)
|
|
|
|
NM_004281.4(BAG3):c.875C>G (p.Pro292Arg)
|
rs748451757
|
|
|
NM_004281.4(BAG3):c.875C>T (p.Pro292Leu)
|
|
|
|
NM_004281.4(BAG3):c.880C>T (p.Arg294Cys)
|
rs144585878
|
|
|
NM_004281.4(BAG3):c.884T>G (p.Val295Gly)
|
|
|
|
NM_004281.4(BAG3):c.886C>T (p.His296Tyr)
|
rs1268848002
|
|
|
NM_004281.4(BAG3):c.888C>A (p.His296Gln)
|
rs139399890
|
|
|
NM_004281.4(BAG3):c.889A>G (p.Thr297Ala)
|
rs794728979
|
|
|
NM_004281.4(BAG3):c.890C>T (p.Thr297Ile)
|
rs2134065455
|
|
|
NM_004281.4(BAG3):c.895G>T (p.Val299Phe)
|
|
|
|
NM_004281.4(BAG3):c.907C>G (p.Gln303Glu)
|
|
|
|
NM_004281.4(BAG3):c.909+4C>A
|
rs376351857
|
|
|
NM_004281.4(BAG3):c.909+4C>G
|
rs376351857
|
|
|
NM_004281.4(BAG3):c.909+5G>A
|
|
|
|
NM_004281.4(BAG3):c.916A>G (p.Met306Val)
|
|
|
|
NM_004281.4(BAG3):c.91G>C (p.Asp31His)
|
|
|
|
NM_004281.4(BAG3):c.948G>T (p.Gln316His)
|
|
|
|
NM_004281.4(BAG3):c.949C>T (p.Pro317Ser)
|
rs2134068679
|
|
|
NM_004281.4(BAG3):c.95C>G (p.Pro32Arg)
|
|
|
|
NM_004281.4(BAG3):c.95C>T (p.Pro32Leu)
|
|
|
|
NM_004281.4(BAG3):c.973C>G (p.Pro325Ala)
|
rs2134068715
|
|
|
NM_004281.4(BAG3):c.979C>A (p.Pro327Thr)
|
|
|
|
NM_004281.4(BAG3):c.980C>G (p.Pro327Arg)
|
rs1847236737
|
|
|
NM_004281.4(BAG3):c.989C>T (p.Pro330Leu)
|
rs1847237047
|
|
|
NM_004281.4(BAG3):c.994C>T (p.Leu332Phe)
|
|
|
|
NM_004281.4(BAG3):c.99G>C (p.Gln33His)
|
rs2134050569
|
|
|
NM_004415.4(DSP):c.1027G>A (p.Ala343Thr)
|
|
|
|
NM_004415.4(DSP):c.1044+3A>C
|
rs765089914
|
|
|
NM_004415.4(DSP):c.1044+3A>G
|
rs765089914
|
|
|
NM_004415.4(DSP):c.1044+5G>T
|
|
|
|
NM_004415.4(DSP):c.1044G>A (p.Glu348=)
|
rs1758868593
|
|
|
NM_004415.4(DSP):c.1045G>C (p.Ala349Pro)
|
|
|
|
NM_004415.4(DSP):c.1052T>G (p.Met351Arg)
|
|
|
|
NM_004415.4(DSP):c.1054G>A (p.Asp352Asn)
|
|
|
|
NM_004415.4(DSP):c.1056_1061del (p.Asp352_Leu354delinsGlu)
|
rs1758892954
|
|
|
NM_004415.4(DSP):c.1058C>G (p.Thr353Ser)
|
|
|
|
NM_004415.4(DSP):c.1061T>C (p.Leu354Pro)
|
|
|
|
NM_004415.4(DSP):c.1061T>G (p.Leu354Arg)
|
|
|
|
NM_004415.4(DSP):c.1066A>G (p.Thr356Ala)
|
|
|
|
NM_004415.4(DSP):c.1066A>T (p.Thr356Ser)
|
rs1052446501
|
|
|
NM_004415.4(DSP):c.1067C>A (p.Thr356Lys)
|
rs780626687
|
|
|
NM_004415.4(DSP):c.1074G>C (p.Trp358Cys)
|
rs1758893971
|
|
|
NM_004415.4(DSP):c.1084C>T (p.Leu362Phe)
|
|
|
|
NM_004415.4(DSP):c.1094C>G (p.Thr365Ser)
|
rs754577019
|
|
|
NM_004415.4(DSP):c.1102A>G (p.Ile368Val)
|
rs794728112
|
|
|
NM_004415.4(DSP):c.110C>G (p.Thr37Ser)
|
|
|
|
NM_004415.4(DSP):c.1112A>C (p.His371Pro)
|
rs397516912
|
|
|
NM_004415.4(DSP):c.1112A>G (p.His371Arg)
|
rs397516912
|
|
|
NM_004415.4(DSP):c.1112A>T (p.His371Leu)
|
|
|
|
NM_004415.4(DSP):c.1115T>C (p.Leu372Pro)
|
rs1758895792
|
|
|
NM_004415.4(DSP):c.1135T>A (p.Phe379Ile)
|
rs757853478
|
|
|
NM_004415.4(DSP):c.1142T>C (p.Phe381Ser)
|
rs1209991251
|
|
|
NM_004415.4(DSP):c.1165G>A (p.Glu389Lys)
|
rs1758909720
|
|
|
NM_004415.4(DSP):c.1181G>C (p.Gly394Ala)
|
|
|
|
NM_004415.4(DSP):c.1184T>C (p.Leu395Pro)
|
|
|
|
NM_004415.4(DSP):c.1201A>G (p.Lys401Glu)
|
|
|
|
NM_004415.4(DSP):c.1216G>A (p.Asp406Asn)
|
rs1758911711
|
|
|
NM_004415.4(DSP):c.123_125dup (p.Tyr42_Ser43insTyr)
|
|
|
|
NM_004415.4(DSP):c.125A>G (p.Tyr42Cys)
|
|
|
|
NM_004415.4(DSP):c.1266+3A>G
|
|
|
|
NM_004415.4(DSP):c.1266+6G>A
|
rs73375345
|
|
|
NM_004415.4(DSP):c.1266G>C (p.Glu422Asp)
|
rs1758913797
|
|
|
NM_004415.4(DSP):c.1274G>T (p.Arg425Leu)
|
rs397516916
|
|
|
NM_004415.4(DSP):c.1282A>G (p.Ile428Val)
|
|
|
|
NM_004415.4(DSP):c.1308G>C (p.Gln436His)
|
rs1057522715
|
|
|
NM_004415.4(DSP):c.1310A>G (p.Asn437Ser)
|
rs2113674233
|
|
|
NM_004415.4(DSP):c.1331A>C (p.Lys444Thr)
|
rs1554106843
|
|
|
NM_004415.4(DSP):c.1333A>G (p.Ile445Val)
|
|
|
|
NM_004415.4(DSP):c.1335T>G (p.Ile445Met)
|
rs898213877
|
|
|
NM_004415.4(DSP):c.133C>T (p.Arg45Cys)
|
|
|
|
NM_004415.4(DSP):c.1350_1351insTTA (p.Pro450_Arg451insLeu)
|
rs1581802595
|
|
|
NM_004415.4(DSP):c.1351C>T (p.Arg451Cys)
|
rs1057518309
|
|
|
NM_004415.4(DSP):c.1352G>A (p.Arg451His)
|
rs786204294
|
|
|
NM_004415.4(DSP):c.1352G>C (p.Arg451Pro)
|
|
|
|
NM_004415.4(DSP):c.1357C>A (p.Pro453Thr)
|
|
|
|
NM_004415.4(DSP):c.1372A>T (p.Asn458Tyr)
|
|
|
|
NM_004415.4(DSP):c.1382T>C (p.Ile461Thr)
|
rs1554106853
|
|
|
NM_004415.4(DSP):c.1392A>C (p.Arg464Ser)
|
rs1403332231
|
|
|
NM_004415.4(DSP):c.1396C>T (p.Leu466Phe)
|
|
|
|
NM_004415.4(DSP):c.1397T>C (p.Leu466Pro)
|
rs727504661
|
|
|
NM_004415.4(DSP):c.1414G>A (p.Asp472Asn)
|
rs2113674467
|
|
|
NM_004415.4(DSP):c.1420-3C>T
|
rs786204296
|
|
|
NM_004415.4(DSP):c.1435G>C (p.Gly479Arg)
|
rs1288305110
|
|
|
NM_004415.4(DSP):c.1441G>A (p.Glu481Lys)
|
rs1758958794
|
|
|
NM_004415.4(DSP):c.1444T>C (p.Cys482Arg)
|
rs746816016
|
|
|
NM_004415.4(DSP):c.1445G>A (p.Cys482Tyr)
|
rs1472091469
|
|
|
NM_004415.4(DSP):c.1460A>G (p.Asn487Ser)
|
|
|
|
NM_004415.4(DSP):c.1483G>T (p.Val495Leu)
|
rs372014020
|
|
|
NM_004415.4(DSP):c.1484T>G (p.Val495Gly)
|
rs727504518
|
|
|
NM_004415.4(DSP):c.1487C>G (p.Thr496Arg)
|
rs374283517
|
|
|
NM_004415.4(DSP):c.1492C>G (p.Pro498Ala)
|
rs1581803474
|
|
|
NM_004415.4(DSP):c.1492C>T (p.Pro498Ser)
|
rs1581803474
|
|
|
NM_004415.4(DSP):c.14G>C (p.Gly5Ala)
|
rs1757989474
|
|
|
NM_004415.4(DSP):c.1504G>A (p.Asp502Asn)
|
rs750547425
|
|
|
NM_004415.4(DSP):c.1509G>A (p.Met503Ile)
|
|
|
|
NM_004415.4(DSP):c.1513G>A (p.Val505Ile)
|
|
|
|
NM_004415.4(DSP):c.1529T>C (p.Leu510Pro)
|
rs2113675644
|
|
|
NM_004415.4(DSP):c.1548C>G (p.Asn516Lys)
|
rs1407207091
|
|
|
NM_004415.4(DSP):c.1555G>T (p.Ala519Ser)
|
rs2113675699
|
|
|
NM_004415.4(DSP):c.1556C>T (p.Ala519Val)
|
rs1395532173
|
|
|
NM_004415.4(DSP):c.1558G>T (p.Val520Leu)
|
rs777545428
|
|
|
NM_004415.4(DSP):c.1561G>A (p.Asp521Asn)
|
rs1449447405
|
|
|
NM_004415.4(DSP):c.1565T>C (p.Leu522Pro)
|
rs955640904
|
|
|
NM_004415.4(DSP):c.1574+5G>A
|
rs2113675801
|
|
|
NM_004415.4(DSP):c.1574A>G (p.Lys525Arg)
|
|
|
|
NM_004415.4(DSP):c.1575-4_1575-3del
|
rs1759008080
|
|
|
NM_004415.4(DSP):c.1577T>C (p.Ile526Thr)
|
rs1561689358
|
|
|
NM_004415.4(DSP):c.158C>T (p.Ser53Leu)
|
rs1398517175
|
|
|
NM_004415.4(DSP):c.1603G>C (p.Ala535Pro)
|
rs777088675
|
|
|
NM_004415.4(DSP):c.1615C>A (p.Gln539Lys)
|
rs727504498
|
|
|
NM_004415.4(DSP):c.1619T>C (p.Leu540Pro)
|
|
|
|
NM_004415.4(DSP):c.1624A>G (p.Ile542Val)
|
rs2113677376
|
|
|
NM_004415.4(DSP):c.162C>G (p.Asp54Glu)
|
|
|
|
NM_004415.4(DSP):c.1660A>G (p.Met554Val)
|
|
|
|
NM_004415.4(DSP):c.1670T>C (p.Ile557Thr)
|
rs1759012793
|
|
|
NM_004415.4(DSP):c.1675A>G (p.Lys559Glu)
|
|
|
|
NM_004415.4(DSP):c.169T>C (p.Cys57Arg)
|
|
|
|
NM_004415.4(DSP):c.170+15G>A
|
|
|
|
NM_004415.4(DSP):c.170+2dup
|
rs2113629250
|
|
|
NM_004415.4(DSP):c.170+5G>A
|
rs727502996
|
|
|
NM_004415.4(DSP):c.170+5G>C
|
rs727502996
|
|
|
NM_004415.4(DSP):c.170+5del
|
rs1554104240
|
|
|
NM_004415.4(DSP):c.170+5dup
|
|
|
|
NM_004415.4(DSP):c.1700A>G (p.Lys567Arg)
|
rs2113677553
|
|
|
NM_004415.4(DSP):c.1702-13T>A
|
rs771235236
|
|
|
NM_004415.4(DSP):c.1702-16_1702-15delinsCT
|
|
|
|
NM_004415.4(DSP):c.171-3dup
|
rs1554105600
|
|
|
NM_004415.4(DSP):c.1711A>G (p.Met571Val)
|
|
|
|
NM_004415.4(DSP):c.1712T>C (p.Met571Thr)
|
|
|
|
NM_004415.4(DSP):c.1729A>C (p.Met577Leu)
|
rs764127243
|
|
|
NM_004415.4(DSP):c.1737_1738delinsTT (p.Ile580Leu)
|
|
|
|
NM_004415.4(DSP):c.1775G>T (p.Arg592Ile)
|
rs1759048949
|
|
|
NM_004415.4(DSP):c.17G>C (p.Gly6Ala)
|
rs1339636876
|
|
|
NM_004415.4(DSP):c.1815_1820dup (p.Lys607_Ile608insArgLys)
|
|
|
|
NM_004415.4(DSP):c.1847A>G (p.Gln616Arg)
|
|
|
|
NM_004415.4(DSP):c.1852C>T (p.His618Tyr)
|
|
|
|
NM_004415.4(DSP):c.186G>A (p.Met62Ile)
|
rs1758488135
|
|
|
NM_004415.4(DSP):c.1870A>G (p.Ile624Val)
|
rs1759053122
|
|
|
NM_004415.4(DSP):c.1873C>G (p.Gln625Glu)
|
rs876657638
|
|
|
NM_004415.4(DSP):c.1880C>T (p.Pro627Leu)
|
rs2113679213
|
|
|
NM_004415.4(DSP):c.1901C>A (p.Thr634Lys)
|
rs139964486
|
|
|
NM_004415.4(DSP):c.1901C>T (p.Thr634Ile)
|
|
|
|
NM_004415.4(DSP):c.1902A>G (p.Thr634=)
|
rs1759054491
|
|
|
NM_004415.4(DSP):c.1903+11G>T
|
|
|
|
NM_004415.4(DSP):c.1903+3C>T
|
rs754326012
|
|
|
NM_004415.4(DSP):c.1903+3del
|
rs1064793548
|
|
|
NM_004415.4(DSP):c.1904T>C (p.Val635Ala)
|
|
|
|
NM_004415.4(DSP):c.1913C>T (p.Thr638Ile)
|
|
|
|
NM_004415.4(DSP):c.1945G>A (p.Val649Ile)
|
rs2113679772
|
|
|
NM_004415.4(DSP):c.194A>G (p.His65Arg)
|
rs771190708
|
|
|
NM_004415.4(DSP):c.194A>T (p.His65Leu)
|
rs771190708
|
|
|
NM_004415.4(DSP):c.1950C>A (p.Asn650Lys)
|
|
|
|
NM_004415.4(DSP):c.1963A>G (p.Ile655Val)
|
|
|
|
NM_004415.4(DSP):c.1964T>A (p.Ile655Asn)
|
|
|
|
NM_004415.4(DSP):c.1968A>T (p.Glu656Asp)
|
rs2113679857
|
|
|
NM_004415.4(DSP):c.1970C>A (p.Thr657Asn)
|
|
|
|
NM_004415.4(DSP):c.1970C>T (p.Thr657Ile)
|
rs1014373689
|
|
|
NM_004415.4(DSP):c.1975A>G (p.Arg659Gly)
|
|
|
|
NM_004415.4(DSP):c.1976_1987del (p.Arg659_Asp662del)
|
rs1554107128
|
|
|
NM_004415.4(DSP):c.1985A>G (p.Asp662Gly)
|
|
|
|
NM_004415.4(DSP):c.1993G>A (p.Glu665Lys)
|
rs2113679925
|
|
|
NM_004415.4(DSP):c.1996A>G (p.Thr666Ala)
|
|
|
|
NM_004415.4(DSP):c.2002A>T (p.Met668Leu)
|
|
|
|
NM_004415.4(DSP):c.2006T>C (p.Leu669Pro)
|
|
|
|
NM_004415.4(DSP):c.2012A>G (p.Glu671Gly)
|
rs758530970
|
|
|
NM_004415.4(DSP):c.201C>A (p.Asn67Lys)
|
|
|
|
NM_004415.4(DSP):c.2023A>T (p.Ile675Phe)
|
rs142619902
|
|
|
NM_004415.4(DSP):c.2042A>G (p.His681Arg)
|
|
|
|
NM_004415.4(DSP):c.2047G>C (p.Glu683Gln)
|
|
|
|
NM_004415.4(DSP):c.2050G>T (p.Gly684Cys)
|
rs1759071281
|
|
|
NM_004415.4(DSP):c.2055G>T (p.Arg685Ser)
|
|
|
|
NM_004415.4(DSP):c.2075C>T (p.Pro692Leu)
|
rs1561690890
|
|
|
NM_004415.4(DSP):c.2080G>A (p.Ala694Thr)
|
rs2113680169
|
|
|
NM_004415.4(DSP):c.2084A>G (p.Asp695Gly)
|
rs2113680188
|
|
|
NM_004415.4(DSP):c.20C>T (p.Ser7Phe)
|
|
|
|
NM_004415.4(DSP):c.2107A>G (p.Thr703Ala)
|
|
|
|
NM_004415.4(DSP):c.2119A>G (p.Asn707Asp)
|
rs756272327
|
|
|
NM_004415.4(DSP):c.2135T>C (p.Val712Ala)
|
rs2113682966
|
|
|
NM_004415.4(DSP):c.2139G>T (p.Gln713His)
|
|
|
|
NM_004415.4(DSP):c.2146T>G (p.Ser716Ala)
|
rs1759149630
|
|
|
NM_004415.4(DSP):c.2161G>A (p.Glu721Lys)
|
rs963374775
|
|
|
NM_004415.4(DSP):c.2164G>T (p.Val722Phe)
|
rs1581808686
|
|
|
NM_004415.4(DSP):c.2176C>G (p.Leu726Val)
|
rs1759151851
|
|
|
NM_004415.4(DSP):c.2188C>T (p.Leu730Phe)
|
rs2113683126
|
|
|
NM_004415.4(DSP):c.2196C>G (p.Asn732Lys)
|
rs1424884336
|
|
|
NM_004415.4(DSP):c.2197T>C (p.Phe733Leu)
|
|
|
|
NM_004415.4(DSP):c.2199C>G (p.Phe733Leu)
|
rs1306942907
|
|
|
NM_004415.4(DSP):c.2201G>A (p.Arg734Lys)
|
rs1561692443
|
|
|
NM_004415.4(DSP):c.2204G>A (p.Gly735Asp)
|
|
|
|
NM_004415.4(DSP):c.2204G>T (p.Gly735Val)
|
rs1759154089
|
|
|
NM_004415.4(DSP):c.2234A>C (p.Glu745Ala)
|
rs969462343
|
|
|
NM_004415.4(DSP):c.2275G>T (p.Val759Phe)
|
|
|
|
NM_004415.4(DSP):c.227A>G (p.Gln76Arg)
|
rs1581790962
|
|
|
NM_004415.4(DSP):c.2297+5A>G
|
|
|
|
NM_004415.4(DSP):c.2301A>C (p.Leu767Phe)
|
rs1759176601
|
|
|
NM_004415.4(DSP):c.2314G>C (p.Ala772Pro)
|
rs766440842
|
|
|
NM_004415.4(DSP):c.2317C>G (p.Leu773Val)
|
|
|
|
NM_004415.4(DSP):c.2321T>A (p.Leu774His)
|
|
|
|
NM_004415.4(DSP):c.232T>G (p.Cys78Gly)
|
rs1758490063
|
|
|
NM_004415.4(DSP):c.2333T>C (p.Leu778Pro)
|
rs1337668206
|
|
|
NM_004415.4(DSP):c.2338A>G (p.Thr780Ala)
|
|
|
|
NM_004415.4(DSP):c.2344G>T (p.Asp782Tyr)
|
rs2113684062
|
|
|
NM_004415.4(DSP):c.2360A>C (p.Tyr787Ser)
|
rs778350289
|
|
|
NM_004415.4(DSP):c.238G>A (p.Asp80Asn)
|
rs1453492594
|
|
|
NM_004415.4(DSP):c.2404G>A (p.Asp802Asn)
|
rs770105310
|
|
|
NM_004415.4(DSP):c.2404G>C (p.Asp802His)
|
|
|
|
NM_004415.4(DSP):c.2408A>C (p.Lys803Thr)
|
rs1759183296
|
|
|
NM_004415.4(DSP):c.2411T>C (p.Val804Ala)
|
|
|
|
NM_004415.4(DSP):c.242G>T (p.Cys81Phe)
|
rs140965835
|
|
|
NM_004415.4(DSP):c.2432T>C (p.Leu811Pro)
|
rs869025391
|
|
|
NM_004415.4(DSP):c.2432T>G (p.Leu811Arg)
|
rs869025391
|
|
|
NM_004415.4(DSP):c.2435A>T (p.Lys812Met)
|
rs1268969488
|
|
|
NM_004415.4(DSP):c.2436+6T>C
|
|
|
|
NM_004415.4(DSP):c.2436G>A (p.Lys812=)
|
|
|
|
NM_004415.4(DSP):c.2437A>C (p.Lys813Gln)
|
rs1395903631
|
|
|
NM_004415.4(DSP):c.2437A>G (p.Lys813Glu)
|
rs1395903631
|
|
|
NM_004415.4(DSP):c.248T>C (p.Met83Thr)
|
rs2113653951
|
|
|
NM_004415.4(DSP):c.2504C>T (p.Ala835Val)
|
|
|
|
NM_004415.4(DSP):c.2507A>G (p.Gln836Arg)
|
rs1554107616
|
|
|
NM_004415.4(DSP):c.250C>G (p.Arg84Gly)
|
rs768521444
|
|
|
NM_004415.4(DSP):c.2511G>C (p.Gln837His)
|
rs2113685122
|
|
|
NM_004415.4(DSP):c.2548G>A (p.Asp850Asn)
|
rs1554107626
|
|
|
NM_004415.4(DSP):c.2564A>T (p.Lys855Met)
|
rs2113685253
|
|
|
NM_004415.4(DSP):c.2570G>A (p.Gly857Asp)
|
|
|
|
NM_004415.4(DSP):c.2572G>A (p.Glu858Lys)
|
rs1759209717
|
|
|
NM_004415.4(DSP):c.2582C>T (p.Thr861Ile)
|
rs1759210367
|
|
|
NM_004415.4(DSP):c.2596C>A (p.Arg866Ser)
|
rs142429411
|
|
|
NM_004415.4(DSP):c.2606G>A (p.Arg869Lys)
|
|
|
|
NM_004415.4(DSP):c.2608A>T (p.Ile870Leu)
|
rs1561693971
|
|
|
NM_004415.4(DSP):c.2611G>A (p.Asp871Asn)
|
|
|
|
NM_004415.4(DSP):c.2628T>G (p.Phe876Leu)
|
|
|
|
NM_004415.4(DSP):c.262A>G (p.Ile88Val)
|
rs1581791030
|
|
|
NM_004415.4(DSP):c.2630+5G>C
|
|
|
|
NM_004415.4(DSP):c.2631-3C>T
|
rs1041054817
|
|
|
NM_004415.4(DSP):c.2631-6C>G
|
rs1759237205
|
|
|
NM_004415.4(DSP):c.2650C>G (p.Gln884Glu)
|
|
|
|
NM_004415.4(DSP):c.2665A>G (p.Arg889Gly)
|
|
|
|
NM_004415.4(DSP):c.2680A>T (p.Asn894Tyr)
|
rs1060500614
|
|
|
NM_004415.4(DSP):c.2695T>C (p.Cys899Arg)
|
rs2113686590
|
|
|
NM_004415.4(DSP):c.2700G>T (p.Lys900Asn)
|
|
|
|
NM_004415.4(DSP):c.2703G>T (p.Trp901Cys)
|
rs1057519251
|
|
|
NM_004415.4(DSP):c.2704C>T (p.Leu902Phe)
|
rs1443682154
|
|
|
NM_004415.4(DSP):c.273+10_273+11insGTGCAG
|
|
|
|
NM_004415.4(DSP):c.274-8_274-7delinsAT
|
rs1561680554
|
|
|
NM_004415.4(DSP):c.2744T>A (p.Met915Lys)
|
rs750869761
|
|
|
NM_004415.4(DSP):c.2758T>C (p.Ser920Pro)
|
rs373804924
|
|
|
NM_004415.4(DSP):c.2759C>T (p.Ser920Phe)
|
rs1481929065
|
|
|
NM_004415.4(DSP):c.2772G>T (p.Met924Ile)
|
|
|
|
NM_004415.4(DSP):c.2777T>C (p.Phe926Ser)
|
|
|
|
NM_004415.4(DSP):c.2789A>C (p.Gln930Pro)
|
|
|
|
NM_004415.4(DSP):c.2790G>C (p.Gln930His)
|
rs2113686814
|
|
|
NM_004415.4(DSP):c.2794-17T>G
|
|
|
|
NM_004415.4(DSP):c.279G>C (p.Leu93Phe)
|
rs1447901875
|
|
|
NM_004415.4(DSP):c.2818A>G (p.Lys940Glu)
|
rs2113687560
|
|
|
NM_004415.4(DSP):c.2821C>G (p.Arg941Gly)
|
rs730880082
|
|
|
NM_004415.4(DSP):c.2825A>T (p.Asp942Val)
|
|
|
|
NM_004415.4(DSP):c.284A>T (p.Tyr95Phe)
|
|
|
|
NM_004415.4(DSP):c.2867A>G (p.Asn956Ser)
|
|
|
|
NM_004415.4(DSP):c.286G>A (p.Gly96Arg)
|
rs2113657461
|
|
|
NM_004415.4(DSP):c.2877+6T>A
|
rs1331983690
|
|
|
NM_004415.4(DSP):c.2879A>G (p.Asp960Gly)
|
|
|
|
NM_004415.4(DSP):c.2887C>T (p.Leu963Phe)
|
rs779931043
|
|
|
NM_004415.4(DSP):c.2893C>G (p.Leu965Val)
|
rs1239813518
|
|
|
NM_004415.4(DSP):c.2894T>C (p.Leu965Pro)
|
rs1581813405
|
|
|
NM_004415.4(DSP):c.289G>A (p.Asp97Asn)
|
|
|
|
NM_004415.4(DSP):c.2936C>G (p.Pro979Arg)
|
rs1759288530
|
|
|
NM_004415.4(DSP):c.2948C>T (p.Thr983Ile)
|
rs1040862892
|
|
|
NM_004415.4(DSP):c.2950A>G (p.Met984Val)
|
rs868110541
|
|
|
NM_004415.4(DSP):c.2963C>T (p.Pro988Leu)
|
rs2113689067
|
|
|
NM_004415.4(DSP):c.2986-3A>C
|
|
|
|
NM_004415.4(DSP):c.2986G>T (p.Ala996Ser)
|
rs1254054471
|
|
|
NM_004415.4(DSP):c.2990C>T (p.Ala997Val)
|
|
|
|
NM_004415.4(DSP):c.2998_3012del (p.His1000_Ile1004del)
|
|
|
|
NM_004415.4(DSP):c.3010A>G (p.Ile1004Val)
|
rs1561696251
|
|
|
NM_004415.4(DSP):c.3019C>T (p.Leu1007Phe)
|
rs1018173692
|
|
|
NM_004415.4(DSP):c.3023C>T (p.Thr1008Ile)
|
rs1334187363
|
|
|
NM_004415.4(DSP):c.3026G>T (p.Arg1009Ile)
|
rs1759318084
|
|
|
NM_004415.4(DSP):c.3046T>G (p.Phe1016Val)
|
rs1561696335
|
|
|
NM_004415.4(DSP):c.304A>C (p.Thr102Pro)
|
|
|
|
NM_004415.4(DSP):c.3068G>A (p.Ser1023Asn)
|
rs2113690096
|
|
|
NM_004415.4(DSP):c.3070T>G (p.Leu1024Val)
|
rs1474315262
|
|
|
NM_004415.4(DSP):c.307C>G (p.Arg103Gly)
|
|
|
|
NM_004415.4(DSP):c.3080T>C (p.Leu1027Pro)
|
|
|
|
NM_004415.4(DSP):c.3102C>G (p.Ile1034Met)
|
rs569974617
|
|
|
NM_004415.4(DSP):c.3103G>A (p.Glu1035Lys)
|
rs760307890
|
|
|
NM_004415.4(DSP):c.3134G>C (p.Arg1045Pro)
|
rs374263890
|
|
|
NM_004415.4(DSP):c.3140C>T (p.Ala1047Val)
|
rs397516931
|
|
|
NM_004415.4(DSP):c.3144C>G (p.Asn1048Lys)
|
|
|
|
NM_004415.4(DSP):c.3157A>G (p.Asn1053Asp)
|
|
|
|
NM_004415.4(DSP):c.3163A>G (p.Asn1055Asp)
|
|
|
|
NM_004415.4(DSP):c.3184C>A (p.Leu1062Met)
|
rs2113691218
|
|
|
NM_004415.4(DSP):c.3190A>G (p.Lys1064Glu)
|
rs1383448057
|
|
|
NM_004415.4(DSP):c.31A>G (p.Ile11Val)
|
|
|
|
NM_004415.4(DSP):c.3230C>T (p.Ala1077Val)
|
rs1257696096
|
|
|
NM_004415.4(DSP):c.3238G>A (p.Glu1080Lys)
|
rs1759345464
|
|
|
NM_004415.4(DSP):c.3243G>T (p.Glu1081Asp)
|
|
|
|
NM_004415.4(DSP):c.3259G>A (p.Glu1087Lys)
|
rs1561697118
|
|
|
NM_004415.4(DSP):c.3263T>C (p.Leu1088Pro)
|
|
|
|
NM_004415.4(DSP):c.328T>C (p.Cys110Arg)
|
rs1554105823
|
|
|
NM_004415.4(DSP):c.3296A>G (p.Lys1099Arg)
|
|
|
|
NM_004415.4(DSP):c.3298T>C (p.Cys1100Arg)
|
rs757539604
|
|
|
NM_004415.4(DSP):c.3298T>G (p.Cys1100Gly)
|
rs757539604
|
|
|
NM_004415.4(DSP):c.3310A>C (p.Ile1104Leu)
|
|
|
|
NM_004415.4(DSP):c.3310A>T (p.Ile1104Leu)
|
rs2113691466
|
|
|
NM_004415.4(DSP):c.3312A>G (p.Ile1104Met)
|
|
|
|
NM_004415.4(DSP):c.3319C>T (p.Leu1107Phe)
|
rs1759348638
|
|
|
NM_004415.4(DSP):c.3340C>A (p.Leu1114Met)
|
|
|
|
NM_004415.4(DSP):c.3344C>T (p.Thr1115Ile)
|
rs1393151720
|
|
|
NM_004415.4(DSP):c.3346_3354del (p.Tyr1116_Ile1118del)
|
|
|
|
NM_004415.4(DSP):c.3368GAA[2] (p.Arg1125del)
|
rs1405952840
|
|
|
NM_004415.4(DSP):c.3371G>A (p.Arg1124Lys)
|
|
|
|
NM_004415.4(DSP):c.3399C>G (p.Asp1133Glu)
|
|
|
|
NM_004415.4(DSP):c.3401A>C (p.Gln1134Pro)
|
rs2113691687
|
|
|
NM_004415.4(DSP):c.3404A>C (p.Gln1135Pro)
|
rs754250788
|
|
|
NM_004415.4(DSP):c.3408_3409delinsAG (p.Asn1137Asp)
|
rs1759352206
|
|
|
NM_004415.4(DSP):c.3458T>G (p.Leu1153Arg)
|
rs1554108085
|
|
|
NM_004415.4(DSP):c.3465G>C (p.Trp1155Cys)
|
rs1759354150
|
|
|
NM_004415.4(DSP):c.3469A>C (p.Lys1157Gln)
|
rs1759354483
|
|
|
NM_004415.4(DSP):c.346G>A (p.Asp116Asn)
|
|
|
|
NM_004415.4(DSP):c.3485A>C (p.Lys1162Thr)
|
|
|
|
NM_004415.4(DSP):c.3492C>G (p.Ile1164Met)
|
rs1561697488
|
|
|
NM_004415.4(DSP):c.3497A>G (p.Glu1166Gly)
|
rs2113691892
|
|
|
NM_004415.4(DSP):c.3499_3501del (p.Lys1167del)
|
rs1554108091
|
|
|
NM_004415.4(DSP):c.3504G>T (p.Glu1168Asp)
|
rs1490403808
|
|
|
NM_004415.4(DSP):c.3505T>A (p.Tyr1169Asn)
|
rs2113691917
|
|
|
NM_004415.4(DSP):c.3508G>A (p.Glu1170Lys)
|
rs139582608
|
|
|
NM_004415.4(DSP):c.3508G>C (p.Glu1170Gln)
|
|
|
|
NM_004415.4(DSP):c.350A>G (p.Gln117Arg)
|
|
|
|
NM_004415.4(DSP):c.3518G>T (p.Arg1173Met)
|
|
|
|
NM_004415.4(DSP):c.3524G>A (p.Arg1175Lys)
|
rs1759357066
|
|
|
NM_004415.4(DSP):c.3526G>A (p.Val1176Ile)
|
|
|
|
NM_004415.4(DSP):c.3527T>C (p.Val1176Ala)
|
rs1759357469
|
|
|
NM_004415.4(DSP):c.3538G>A (p.Glu1180Lys)
|
|
|
|
NM_004415.4(DSP):c.3548C>T (p.Thr1183Ile)
|
|
|
|
NM_004415.4(DSP):c.3555G>C (p.Lys1185Asn)
|
|
|
|
NM_004415.4(DSP):c.3559G>A (p.Glu1187Lys)
|
rs1759359375
|
|
|
NM_004415.4(DSP):c.3565G>A (p.Glu1189Lys)
|
rs866149042
|
|
|
NM_004415.4(DSP):c.3573G>T (p.Glu1191Asp)
|
rs750659892
|
|
|
NM_004415.4(DSP):c.3574C>G (p.Leu1192Val)
|
rs1554108118
|
|
|
NM_004415.4(DSP):c.3578C>A (p.Ala1193Glu)
|
|
|
|
NM_004415.4(DSP):c.3596A>G (p.Tyr1199Cys)
|
|
|
|
NM_004415.4(DSP):c.35A>G (p.Asn12Ser)
|
rs1239489755
|
|
|
NM_004415.4(DSP):c.3608T>C (p.Met1203Thr)
|
|
|
|
NM_004415.4(DSP):c.3609_3610delinsAG (p.Met1203_Ser1204delinsIleGly)
|
rs1759361326
|
|
|
NM_004415.4(DSP):c.3616T>G (p.Leu1206Val)
|
rs151115778
|
|
|
NM_004415.4(DSP):c.3629A>G (p.Tyr1210Cys)
|
|
|
|
NM_004415.4(DSP):c.3680A>C (p.Gln1227Pro)
|
rs1458557680
|
|
|
NM_004415.4(DSP):c.3684A>T (p.Lys1228Asn)
|
|
|
|
NM_004415.4(DSP):c.3687_3689dup (p.Glu1229dup)
|
rs1561697838
|
|
|
NM_004415.4(DSP):c.3692A>C (p.Asp1231Ala)
|
rs1581816117
|
|
|
NM_004415.4(DSP):c.3712C>A (p.Gln1238Lys)
|
rs767519046
|
|
|
NM_004415.4(DSP):c.3712C>G (p.Gln1238Glu)
|
rs767519046
|
|
|
NM_004415.4(DSP):c.3720T>A (p.Asp1240Glu)
|
rs1759365530
|
|
|
NM_004415.4(DSP):c.3730A>G (p.Arg1244Gly)
|
rs2113692494
|
|
|
NM_004415.4(DSP):c.3742G>C (p.Asp1248His)
|
rs989348634
|
|
|
NM_004415.4(DSP):c.3763A>G (p.Arg1255Gly)
|
rs1477870659
|
|
|
NM_004415.4(DSP):c.3764G>A (p.Arg1255Lys)
|
rs777407386
|
|
|
NM_004415.4(DSP):c.3770A>G (p.Asn1257Ser)
|
rs1561697968
|
|
|
NM_004415.4(DSP):c.3775A>G (p.Ser1259Gly)
|
rs770172294
|
|
|
NM_004415.4(DSP):c.3778A>T (p.Ile1260Phe)
|
|
|
|
NM_004415.4(DSP):c.3788C>A (p.Ala1263Asp)
|
rs1359308406
|
|
|
NM_004415.4(DSP):c.3788C>T (p.Ala1263Val)
|
|
|
|
NM_004415.4(DSP):c.3794A>G (p.Glu1265Gly)
|
|
|
|
NM_004415.4(DSP):c.37A>G (p.Thr13Ala)
|
|
|
|
NM_004415.4(DSP):c.3811G>A (p.Glu1271Lys)
|
rs2113692719
|
|
|
NM_004415.4(DSP):c.3815A>G (p.Glu1272Gly)
|
|
|
|
NM_004415.4(DSP):c.3820G>C (p.Ala1274Pro)
|
rs1285435504
|
|
|
NM_004415.4(DSP):c.3820G>T (p.Ala1274Ser)
|
rs1285435504
|
|
|
NM_004415.4(DSP):c.3842G>A (p.Gly1281Asp)
|
rs757029634
|
|
|
NM_004415.4(DSP):c.3845C>T (p.Ser1282Phe)
|
rs778780656
|
|
|
NM_004415.4(DSP):c.3854T>G (p.Met1285Arg)
|
rs1759372184
|
|
|
NM_004415.4(DSP):c.3864G>T (p.Lys1288Asn)
|
rs768166626
|
|
|
NM_004415.4(DSP):c.3880G>A (p.Glu1294Lys)
|
|
|
|
NM_004415.4(DSP):c.3896T>C (p.Met1299Thr)
|
rs1432542467
|
|
|
NM_004415.4(DSP):c.3897G>C (p.Met1299Ile)
|
rs2113692906
|
|
|
NM_004415.4(DSP):c.389A>G (p.Gln130Arg)
|
|
|
|
NM_004415.4(DSP):c.3902A>T (p.Gln1301Leu)
|
rs2113692916
|
|
|
NM_004415.4(DSP):c.3919_3920delinsTT (p.Ala1307Phe)
|
|
|
|
NM_004415.4(DSP):c.3923G>T (p.Arg1308Leu)
|
rs184154918
|
|
|
NM_004415.4(DSP):c.3932A>C (p.Gln1311Pro)
|
|
|
|
NM_004415.4(DSP):c.3934T>C (p.Ser1312Pro)
|
|
|
|
NM_004415.4(DSP):c.394G>A (p.Gly132Ser)
|
rs1064796573
|
|
|
NM_004415.4(DSP):c.3953A>G (p.Lys1318Arg)
|
|
|
|
NM_004415.4(DSP):c.3958A>G (p.Ile1320Val)
|
|
|
|
NM_004415.4(DSP):c.3964G>A (p.Asp1322Asn)
|
rs1759376700
|
|
|
NM_004415.4(DSP):c.3971A>G (p.Asn1324Ser)
|
|
|
|
NM_004415.4(DSP):c.397C>G (p.Gln133Glu)
|
|
|
|
NM_004415.4(DSP):c.3982G>C (p.Glu1328Gln)
|
rs746208168
|
|
|
NM_004415.4(DSP):c.3997G>A (p.Glu1333Lys)
|
rs2113693124
|
|
|
NM_004415.4(DSP):c.4002T>G (p.Phe1334Leu)
|
rs1759378577
|
|
|
NM_004415.4(DSP):c.4013C>A (p.Ala1338Asp)
|
rs2113693177
|
|
|
NM_004415.4(DSP):c.4016A>G (p.Lys1339Arg)
|
rs1759379431
|
|
|
NM_004415.4(DSP):c.4034A>C (p.Glu1345Ala)
|
rs201964660
|
|
|
NM_004415.4(DSP):c.4034A>G (p.Glu1345Gly)
|
rs201964660
|
|
|
NM_004415.4(DSP):c.4042C>G (p.Leu1348Val)
|
|
|
|
NM_004415.4(DSP):c.4055G>A (p.Arg1352Lys)
|
rs757808893
|
|
|
NM_004415.4(DSP):c.4069GAG[1] (p.Glu1358del)
|
rs777457799
|
|
|
NM_004415.4(DSP):c.4071G>C (p.Glu1357Asp)
|
rs569786610
|
|
|
NM_004415.4(DSP):c.4072G>A (p.Glu1358Lys)
|
|
|
|
NM_004415.4(DSP):c.4077C>G (p.Ile1359Met)
|
|
|
|
NM_004415.4(DSP):c.4090A>C (p.Asn1364His)
|
|
|
|
NM_004415.4(DSP):c.4099G>A (p.Glu1367Lys)
|
rs1759383897
|
|
|
NM_004415.4(DSP):c.4107_4108delinsTG (p.Glu1369_Ile1370delinsAspVal)
|
rs1759384287
|
|
|
NM_004415.4(DSP):c.4109T>A (p.Ile1370Asn)
|
rs1759384359
|
|
|
NM_004415.4(DSP):c.4130T>A (p.Ile1377Asn)
|
rs1215591946
|
|
|
NM_004415.4(DSP):c.4145T>C (p.Met1382Thr)
|
|
|
|
NM_004415.4(DSP):c.416A>T (p.Gln139Leu)
|
rs1385183881
|
|
|
NM_004415.4(DSP):c.4172A>C (p.Tyr1391Ser)
|
rs727504547
|
|
|
NM_004415.4(DSP):c.418A>G (p.Lys140Glu)
|
|
|
|
NM_004415.4(DSP):c.4195A>G (p.Thr1399Ala)
|
rs1561698547
|
|
|
NM_004415.4(DSP):c.4202A>T (p.Glu1401Val)
|
rs1759389046
|
|
|
NM_004415.4(DSP):c.4204A>G (p.Asn1402Asp)
|
|
|
|
NM_004415.4(DSP):c.4216T>C (p.Ser1406Pro)
|
|
|
|
NM_004415.4(DSP):c.422+3A>G
|
rs1758564707
|
|
|
NM_004415.4(DSP):c.4226_4228del (p.Ile1409del)
|
rs746639284
|
|
|
NM_004415.4(DSP):c.422G>A (p.Arg141Lys)
|
|
|
|
NM_004415.4(DSP):c.422G>C (p.Arg141Thr)
|
rs969373062
|
|
|
NM_004415.4(DSP):c.423-6T>G
|
|
|
|
NM_004415.4(DSP):c.4233G>T (p.Arg1411Ser)
|
rs771721410
|
|
|
NM_004415.4(DSP):c.423G>T (p.Arg141Ser)
|
|
|
|
NM_004415.4(DSP):c.4261G>A (p.Glu1421Lys)
|
rs769965019
|
|
|
NM_004415.4(DSP):c.4267C>A (p.Leu1423Ile)
|
|
|
|
NM_004415.4(DSP):c.4276G>A (p.Val1426Met)
|
rs1759393186
|
|
|
NM_004415.4(DSP):c.4289T>C (p.Ile1430Thr)
|
|
|
|
NM_004415.4(DSP):c.428T>C (p.Leu143Pro)
|
rs746545985
|
|
|
NM_004415.4(DSP):c.4293A>T (p.Gln1431His)
|
|
|
|
NM_004415.4(DSP):c.4304C>T (p.Ala1435Val)
|
rs1164622831
|
|
|
NM_004415.4(DSP):c.4337A>G (p.Gln1446Arg)
|
|
|
|
NM_004415.4(DSP):c.4351C>G (p.Leu1451Val)
|
|
|
|
NM_004415.4(DSP):c.4352T>C (p.Leu1451Pro)
|
rs1554108296
|
|
|
NM_004415.4(DSP):c.4360G>A (p.Val1454Ile)
|
|
|
|
NM_004415.4(DSP):c.4369A>T (p.Met1457Leu)
|
|
|
|
NM_004415.4(DSP):c.4371G>C (p.Met1457Ile)
|
rs1169630255
|
|
|
NM_004415.4(DSP):c.4379A>G (p.Glu1460Gly)
|
rs1759396646
|
|
|
NM_004415.4(DSP):c.4385_4386delinsTT (p.Ser1462Ile)
|
rs730880090
|
|
|
NM_004415.4(DSP):c.4396A>G (p.Lys1466Glu)
|
rs1561698838
|
|
|
NM_004415.4(DSP):c.439G>C (p.Glu147Gln)
|
|
|
|
NM_004415.4(DSP):c.4409A>G (p.Asp1470Gly)
|
|
|
|
NM_004415.4(DSP):c.4415C>A (p.Ala1472Asp)
|
rs1272181488
|
|
|
NM_004415.4(DSP):c.4415C>T (p.Ala1472Val)
|
|
|
|
NM_004415.4(DSP):c.441G>C (p.Glu147Asp)
|
|
|
|
NM_004415.4(DSP):c.4426A>G (p.Ile1476Val)
|
|
|
|
NM_004415.4(DSP):c.4445A>C (p.Glu1482Ala)
|
|
|
|
NM_004415.4(DSP):c.4449A>G (p.Ile1483Met)
|
rs1308817559
|
|
|
NM_004415.4(DSP):c.4451A>G (p.Glu1484Gly)
|
|
|
|
NM_004415.4(DSP):c.4468A>G (p.Ile1490Val)
|
|
|
|
NM_004415.4(DSP):c.4472A>G (p.Asp1491Gly)
|
rs397516938
|
|
|
NM_004415.4(DSP):c.44G>A (p.Gly15Asp)
|
rs1265161836
|
|
|
NM_004415.4(DSP):c.4501G>A (p.Glu1501Lys)
|
|
|
|
NM_004415.4(DSP):c.4502A>G (p.Glu1501Gly)
|
rs1759403946
|
|
|
NM_004415.4(DSP):c.4514C>A (p.Ala1505Glu)
|
|
|
|
NM_004415.4(DSP):c.4521A>T (p.Leu1507Phe)
|
rs1060500611
|
|
|
NM_004415.4(DSP):c.4523A>G (p.Gln1508Arg)
|
rs1759404972
|
|
|
NM_004415.4(DSP):c.4527_4559del (p.Arg1509_Ser1519del)
|
rs397516939
|
|
|
NM_004415.4(DSP):c.4532A>G (p.Gln1511Arg)
|
|
|
|
NM_004415.4(DSP):c.4533G>C (p.Gln1511His)
|
rs2113694339
|
|
|
NM_004415.4(DSP):c.4539C>A (p.Asp1513Glu)
|
rs1759406088
|
|
|
NM_004415.4(DSP):c.4552A>G (p.Asn1518Asp)
|
|
|
|
NM_004415.4(DSP):c.4564A>T (p.Thr1522Ser)
|
rs1759406838
|
|
|
NM_004415.4(DSP):c.4571C>A (p.Thr1524Lys)
|
rs397516941
|
|
|
NM_004415.4(DSP):c.4571C>T (p.Thr1524Ile)
|
rs397516941
|
|
|
NM_004415.4(DSP):c.458A>G (p.Tyr153Cys)
|
rs1758601898
|
|
|
NM_004415.4(DSP):c.4593G>C (p.Gln1531His)
|
|
|
|
NM_004415.4(DSP):c.4595A>G (p.Glu1532Gly)
|
rs1759408509
|
|
|
NM_004415.4(DSP):c.4625A>C (p.Tyr1542Ser)
|
|
|
|
NM_004415.4(DSP):c.4628A>G (p.Glu1543Gly)
|
|
|
|
NM_004415.4(DSP):c.4629A>C (p.Glu1543Asp)
|
rs1759410036
|
|
|
NM_004415.4(DSP):c.4647G>C (p.Arg1549Ser)
|
rs2113694603
|
|
|
NM_004415.4(DSP):c.4648A>G (p.Thr1550Ala)
|
rs375917565
|
|
|
NM_004415.4(DSP):c.4649C>G (p.Thr1550Ser)
|
rs928167721
|
|
|
NM_004415.4(DSP):c.466A>C (p.Ile156Leu)
|
|
|
|
NM_004415.4(DSP):c.4672C>T (p.Arg1558Trp)
|
|
|
|
NM_004415.4(DSP):c.4679A>G (p.Gln1560Arg)
|
rs796530013
|
|
|
NM_004415.4(DSP):c.4683C>G (p.Asn1561Lys)
|
|
|
|
NM_004415.4(DSP):c.4685C>G (p.Ser1562Cys)
|
|
|
|
NM_004415.4(DSP):c.4712A>C (p.Gln1571Pro)
|
|
|
|
NM_004415.4(DSP):c.4750G>T (p.Ala1584Ser)
|
rs191778417
|
|
|
NM_004415.4(DSP):c.4751C>T (p.Ala1584Val)
|
|
|
|
NM_004415.4(DSP):c.475C>T (p.Pro159Ser)
|
rs1758602932
|
|
|
NM_004415.4(DSP):c.4763_4765del (p.Ser1588del)
|
rs1010996982
|
|
|
NM_004415.4(DSP):c.4766G>T (p.Cys1589Phe)
|
|
|
|
NM_004415.4(DSP):c.4769A>G (p.Lys1590Arg)
|
rs2113694864
|
|
|
NM_004415.4(DSP):c.476C>G (p.Pro159Arg)
|
|
|
|
NM_004415.4(DSP):c.4780C>G (p.Leu1594Val)
|
rs149463707
|
|
|
NM_004415.4(DSP):c.4786G>A (p.Glu1596Lys)
|
|
|
|
NM_004415.4(DSP):c.4820A>G (p.Glu1607Gly)
|
rs1364445729
|
|
|
NM_004415.4(DSP):c.4826C>A (p.Ala1609Asp)
|
|
|
|
NM_004415.4(DSP):c.4835T>C (p.Ile1612Thr)
|
rs1581818435
|
|
|
NM_004415.4(DSP):c.4837A>T (p.Thr1613Ser)
|
|
|
|
NM_004415.4(DSP):c.4847C>T (p.Thr1616Ile)
|
rs1759419853
|
|
|
NM_004415.4(DSP):c.4868C>G (p.Ser1623Cys)
|
rs908086952
|
|
|
NM_004415.4(DSP):c.4870A>G (p.Ile1624Val)
|
|
|
|
NM_004415.4(DSP):c.4886G>A (p.Ser1629Asn)
|
|
|
|
NM_004415.4(DSP):c.4888G>A (p.Glu1630Lys)
|
rs2113695154
|
|
|
NM_004415.4(DSP):c.4893T>G (p.Asp1631Glu)
|
rs775633446
|
|
|
NM_004415.4(DSP):c.4894G>A (p.Asp1632Asn)
|
rs747279731
|
|
|
NM_004415.4(DSP):c.4900C>T (p.Arg1634Trp)
|
rs973569441
|
|
|
NM_004415.4(DSP):c.4901G>T (p.Arg1634Leu)
|
rs144106775
|
|
|
NM_004415.4(DSP):c.4916T>C (p.Val1639Ala)
|
|
|
|
NM_004415.4(DSP):c.4946G>A (p.Arg1649Lys)
|
rs2113695278
|
|
|
NM_004415.4(DSP):c.4948A>G (p.Thr1650Ala)
|
rs2113695282
|
|
|
NM_004415.4(DSP):c.494G>A (p.Ser165Asn)
|
|
|
|
NM_004415.4(DSP):c.4954G>C (p.Glu1652Gln)
|
rs267601119
|
|
|
NM_004415.4(DSP):c.4973C>T (p.Ser1658Phe)
|
rs202084959
|
|
|
NM_004415.4(DSP):c.497C>T (p.Ser166Phe)
|
rs1060500620
|
|
|
NM_004415.4(DSP):c.4999C>A (p.Gln1667Lys)
|
|
|
|
NM_004415.4(DSP):c.5006T>C (p.Leu1669Pro)
|
rs776712810
|
|
|
NM_004415.4(DSP):c.5037C>G (p.His1679Gln)
|
|
|
|
NM_004415.4(DSP):c.505G>A (p.Gly169Ser)
|
rs1184706017
|
|
|
NM_004415.4(DSP):c.5065A>C (p.Ile1689Leu)
|
rs1043797322
|
|
|
NM_004415.4(DSP):c.506G>A (p.Gly169Asp)
|
rs1758605175
|
|
|
NM_004415.4(DSP):c.5075_5080del (p.Lys1692_Ser1693del)
|
|
|
|
NM_004415.4(DSP):c.5090A>T (p.Asn1697Ile)
|
rs2113695564
|
|
|
NM_004415.4(DSP):c.50T>C (p.Met17Thr)
|
rs559248100
|
|
|
NM_004415.4(DSP):c.5101A>G (p.Ile1701Val)
|
rs794728154
|
|
|
NM_004415.4(DSP):c.5107A>G (p.Ile1703Val)
|
rs868035157
|
|
|
NM_004415.4(DSP):c.5108T>A (p.Ile1703Asn)
|
rs794728123
|
|
|
NM_004415.4(DSP):c.5110G>A (p.Glu1704Lys)
|
rs1312263432
|
|
|
NM_004415.4(DSP):c.5123C>G (p.Ser1708Cys)
|
rs372452104
|
|
|
NM_004415.4(DSP):c.512_513delinsAA (p.Gly171Glu)
|
rs1758605814
|
|
|
NM_004415.4(DSP):c.5161GAA[2] (p.Glu1723del)
|
rs730880091
|
|
|
NM_004415.4(DSP):c.5171T>C (p.Leu1724Pro)
|
rs2113695726
|
|
|
NM_004415.4(DSP):c.5174G>A (p.Arg1725Gln)
|
rs1759434677
|
|
|
NM_004415.4(DSP):c.5188G>A (p.Glu1730Lys)
|
rs794727382
|
|
|
NM_004415.4(DSP):c.5212C>G (p.Arg1738Gly)
|
rs794728124
|
|
|
NM_004415.4(DSP):c.5227A>G (p.Ser1743Gly)
|
rs1759437499
|
|
|
NM_004415.4(DSP):c.5245A>G (p.Ile1749Val)
|
rs1279085997
|
|
|
NM_004415.4(DSP):c.5249T>G (p.Leu1750Trp)
|
rs1759438511
|
|
|
NM_004415.4(DSP):c.526A>G (p.Ser176Gly)
|
rs1426245453
|
|
|
NM_004415.4(DSP):c.5283C>A (p.Asn1761Lys)
|
rs763355815
|
|
|
NM_004415.4(DSP):c.5303G>T (p.Gly1768Val)
|
rs2113696049
|
|
|
NM_004415.4(DSP):c.5305C>A (p.Leu1769Met)
|
rs946445410
|
|
|
NM_004415.4(DSP):c.5308A>G (p.Ile1770Val)
|
rs2113696065
|
|
|
NM_004415.4(DSP):c.5309T>C (p.Ile1770Thr)
|
|
|
|
NM_004415.4(DSP):c.5318T>C (p.Leu1773Ser)
|
rs2113696090
|
|
|
NM_004415.4(DSP):c.5322G>C (p.Gln1774His)
|
|
|
|
NM_004415.4(DSP):c.5327A>G (p.Glu1776Gly)
|
rs1363204936
|
|
|
NM_004415.4(DSP):c.535G>A (p.Gly179Ser)
|
rs774829433
|
|
|
NM_004415.4(DSP):c.5363A>C (p.Gln1788Pro)
|
rs139673146
|
|
|
NM_004415.4(DSP):c.5371G>A (p.Ala1791Thr)
|
rs2113696199
|
|
|
NM_004415.4(DSP):c.5380-1G>C
|
rs1759474600
|
|
|
NM_004415.4(DSP):c.5384C>A (p.Ser1795Tyr)
|
|
|
|
NM_004415.4(DSP):c.5414G>T (p.Cys1805Phe)
|
rs768161038
|
|
|
NM_004415.4(DSP):c.5439G>C (p.Glu1813Asp)
|
rs1759477469
|
|
|
NM_004415.4(DSP):c.5441G>A (p.Ser1814Asn)
|
rs730880085
|
|
|
NM_004415.4(DSP):c.5442C>A (p.Ser1814Arg)
|
rs2113697874
|
|
|
NM_004415.4(DSP):c.5483G>C (p.Arg1828Thr)
|
|
|
|
NM_004415.4(DSP):c.5489A>T (p.Gln1830Leu)
|
|
|
|
NM_004415.4(DSP):c.5512C>T (p.Arg1838Cys)
|
rs756481791
|
|
|
NM_004415.4(DSP):c.5513G>T (p.Arg1838Leu)
|
rs377715841
|
|
|
NM_004415.4(DSP):c.5516C>T (p.Ala1839Val)
|
|
|
|
NM_004415.4(DSP):c.5521T>C (p.Ser1841Pro)
|
|
|
|
NM_004415.4(DSP):c.5538A>C (p.Glu1846Asp)
|
|
|
|
NM_004415.4(DSP):c.5548A>C (p.Lys1850Gln)
|
|
|
|
NM_004415.4(DSP):c.5555G>T (p.Arg1852Leu)
|
|
|
|
NM_004415.4(DSP):c.5560G>C (p.Glu1854Gln)
|
|
|
|
NM_004415.4(DSP):c.5563T>C (p.Cys1855Arg)
|
rs1453126950
|
|
|
NM_004415.4(DSP):c.557A>G (p.His186Arg)
|
rs1033990351
|
|
|
NM_004415.4(DSP):c.557A>T (p.His186Leu)
|
rs1033990351
|
|
|
NM_004415.4(DSP):c.5584A>T (p.Asn1862Tyr)
|
rs2113698216
|
|
|
NM_004415.4(DSP):c.5587G>A (p.Asp1863Asn)
|
|
|
|
NM_004415.4(DSP):c.5590C>A (p.Leu1864Met)
|
|
|
|
NM_004415.4(DSP):c.5609A>G (p.Gln1870Arg)
|
|
|
|
NM_004415.4(DSP):c.5618G>T (p.Arg1873Leu)
|
rs776088292
|
|
|
NM_004415.4(DSP):c.5620A>G (p.Lys1874Glu)
|
|
|
|
NM_004415.4(DSP):c.5633T>C (p.Ile1878Thr)
|
rs1581820615
|
|
|
NM_004415.4(DSP):c.5635A>G (p.Arg1879Gly)
|
rs1759488201
|
|
|
NM_004415.4(DSP):c.5642T>C (p.Ile1881Thr)
|
rs1192963820
|
|
|
NM_004415.4(DSP):c.5659A>G (p.Lys1887Glu)
|
|
|
|
NM_004415.4(DSP):c.5664T>A (p.Ser1888Arg)
|
|
|
|
NM_004415.4(DSP):c.5673GAA[1] (p.Lys1892del)
|
|
|
|
NM_004415.4(DSP):c.5674A>G (p.Lys1892Glu)
|
|
|
|
NM_004415.4(DSP):c.5678A>G (p.Asn1893Ser)
|
rs2113698496
|
|
|
NM_004415.4(DSP):c.5680A>C (p.Ser1894Arg)
|
|
|
|
NM_004415.4(DSP):c.5681G>C (p.Ser1894Thr)
|
|
|
|
NM_004415.4(DSP):c.5683C>G (p.Leu1895Val)
|
rs1159494439
|
|
|
NM_004415.4(DSP):c.5688_5690del (p.Arg1896del)
|
rs1561701244
|
|
|
NM_004415.4(DSP):c.568G>A (p.Glu190Lys)
|
rs1758608184
|
|
|
NM_004415.4(DSP):c.5697C>G (p.Ile1899Met)
|
|
|
|
NM_004415.4(DSP):c.56G>A (p.Arg19His)
|
rs1757992558
|
|
|
NM_004415.4(DSP):c.5738G>C (p.Cys1913Ser)
|
rs755250746
|
|
|
NM_004415.4(DSP):c.5743C>T (p.Arg1915Cys)
|
rs1461028383
|
|
|
NM_004415.4(DSP):c.5765G>A (p.Arg1922Lys)
|
rs1235630592
|
|
|
NM_004415.4(DSP):c.5767G>C (p.Glu1923Gln)
|
rs397516948
|
|
|
NM_004415.4(DSP):c.576G>A (p.Leu192=)
|
rs1758608540
|
|
|
NM_004415.4(DSP):c.576G>T (p.Leu192Phe)
|
rs1758608540
|
|
|
NM_004415.4(DSP):c.5789C>G (p.Thr1930Arg)
|
rs794728126
|
|
|
NM_004415.4(DSP):c.5821A>G (p.Lys1941Glu)
|
rs794728127
|
|
|
NM_004415.4(DSP):c.5828G>T (p.Arg1943Ile)
|
|
|
|
NM_004415.4(DSP):c.5869T>C (p.Cys1957Arg)
|
rs2113698961
|
|
|
NM_004415.4(DSP):c.5874G>C (p.Glu1958Asp)
|
|
|
|
NM_004415.4(DSP):c.5887A>G (p.Thr1963Ala)
|
|
|
|
NM_004415.4(DSP):c.5896C>G (p.Leu1966Val)
|
rs1554108700
|
|
|
NM_004415.4(DSP):c.5918A>G (p.Lys1973Arg)
|
rs376397314
|
|
|
NM_004415.4(DSP):c.5920A>G (p.Lys1974Glu)
|
rs1561701683
|
|
|
NM_004415.4(DSP):c.5922G>C (p.Lys1974Asn)
|
rs193059393
|
|
|
NM_004415.4(DSP):c.5924T>C (p.Val1975Ala)
|
rs1759505693
|
|
|
NM_004415.4(DSP):c.5942A>G (p.Tyr1981Cys)
|
rs1085307622
|
|
|
NM_004415.4(DSP):c.596G>T (p.Arg199Met)
|
|
|
|
NM_004415.4(DSP):c.597+2_597+5dup
|
rs765558005
|
|
|
NM_004415.4(DSP):c.597+4A>C
|
|
|
|
NM_004415.4(DSP):c.5978A>G (p.Lys1993Arg)
|
rs1561701766
|
|
|
NM_004415.4(DSP):c.5G>C (p.Ser2Thr)
|
|
|
|
NM_004415.4(DSP):c.6010G>C (p.Val2004Leu)
|
|
|
|
NM_004415.4(DSP):c.6011T>C (p.Val2004Ala)
|
rs1759511205
|
|
|
NM_004415.4(DSP):c.6013G>A (p.Ala2005Thr)
|
|
|
|
NM_004415.4(DSP):c.6041G>C (p.Gly2014Ala)
|
rs1470983327
|
|
|
NM_004415.4(DSP):c.6046G>A (p.Gly2016Arg)
|
rs1759513408
|
|
|
NM_004415.4(DSP):c.6067G>C (p.Ala2023Pro)
|
rs776533737
|
|
|
NM_004415.4(DSP):c.6067G>T (p.Ala2023Ser)
|
rs776533737
|
|
|
NM_004415.4(DSP):c.6073C>T (p.Pro2025Ser)
|
rs1759514545
|
|
|
NM_004415.4(DSP):c.6088T>C (p.Ser2030Pro)
|
rs1759514959
|
|
|
NM_004415.4(DSP):c.6089C>A (p.Ser2030Tyr)
|
rs867842357
|
|
|
NM_004415.4(DSP):c.6104A>C (p.Lys2035Thr)
|
|
|
|
NM_004415.4(DSP):c.6106A>G (p.Arg2036Gly)
|
rs2113699558
|
|
|
NM_004415.4(DSP):c.6118A>G (p.Ile2040Val)
|
|
|
|
NM_004415.4(DSP):c.612G>C (p.Met204Ile)
|
rs1021314728
|
|
|
NM_004415.4(DSP):c.612G>T (p.Met204Ile)
|
|
|
|
NM_004415.4(DSP):c.6134C>G (p.Thr2045Arg)
|
rs1759516546
|
|
|
NM_004415.4(DSP):c.6146T>G (p.Leu2049Arg)
|
rs1759516965
|
|
|
NM_004415.4(DSP):c.6160G>A (p.Ala2054Thr)
|
rs1759517531
|
|
|
NM_004415.4(DSP):c.616G>A (p.Ala206Thr)
|
rs794728109
|
|
|
NM_004415.4(DSP):c.6179A>T (p.Asp2060Val)
|
|
|
|
NM_004415.4(DSP):c.6181C>T (p.Pro2061Ser)
|
rs1561702055
|
|
|
NM_004415.4(DSP):c.6203C>G (p.Thr2068Ser)
|
|
|
|
NM_004415.4(DSP):c.6208G>C (p.Asp2070His)
|
|
|
|
NM_004415.4(DSP):c.620G>C (p.Trp207Ser)
|
rs1445705079
|
|
|
NM_004415.4(DSP):c.6224G>T (p.Arg2075Leu)
|
|
|
|
NM_004415.4(DSP):c.6247C>G (p.Arg2083Gly)
|
rs370093129
|
|
|
NM_004415.4(DSP):c.6275C>T (p.Ala2092Val)
|
rs876657796
|
|
|
NM_004415.4(DSP):c.6278T>C (p.Ile2093Thr)
|
|
|
|
NM_004415.4(DSP):c.6295_6296delinsAT (p.Pro2099Ile)
|
rs587782942
|
|
|
NM_004415.4(DSP):c.6328G>T (p.Ala2110Ser)
|
|
|
|
NM_004415.4(DSP):c.6353G>C (p.Arg2118Thr)
|
|
|
|
NM_004415.4(DSP):c.6361G>A (p.Gly2121Arg)
|
rs368227724
|
|
|
NM_004415.4(DSP):c.6364A>G (p.Met2122Val)
|
|
|
|
NM_004415.4(DSP):c.6409C>A (p.Pro2137Thr)
|
rs2113700303
|
|
|
NM_004415.4(DSP):c.6422T>G (p.Val2141Gly)
|
rs1759532262
|
|
|
NM_004415.4(DSP):c.6454G>C (p.Gly2152Arg)
|
|
|
|
NM_004415.4(DSP):c.6460A>G (p.Ile2154Val)
|
|
|
|
NM_004415.4(DSP):c.6461T>C (p.Ile2154Thr)
|
rs2113700418
|
|
|
NM_004415.4(DSP):c.6470A>G (p.Asp2157Gly)
|
rs2113700447
|
|
|
NM_004415.4(DSP):c.6475T>C (p.Tyr2159His)
|
|
|
|
NM_004415.4(DSP):c.6485T>C (p.Leu2162Pro)
|
|
|
|
NM_004415.4(DSP):c.6494C>T (p.Pro2165Leu)
|
rs1759535966
|
|
|
NM_004415.4(DSP):c.64T>C (p.Ser22Pro)
|
rs2113628752
|
|
|
NM_004415.4(DSP):c.6505C>G (p.Gln2169Glu)
|
rs1561702645
|
|
|
NM_004415.4(DSP):c.6512A>C (p.Asn2171Thr)
|
|
|
|
NM_004415.4(DSP):c.6526G>C (p.Val2176Leu)
|
rs746533703
|
|
|
NM_004415.4(DSP):c.6530C>A (p.Thr2177Asn)
|
|
|
|
NM_004415.4(DSP):c.6545G>T (p.Ser2182Ile)
|
|
|
|
NM_004415.4(DSP):c.6547T>C (p.Tyr2183His)
|
rs763549172
|
|
|
NM_004415.4(DSP):c.6551T>A (p.Val2184Glu)
|
|
|
|
NM_004415.4(DSP):c.6569G>T (p.Cys2190Phe)
|
rs1276738564
|
|
|
NM_004415.4(DSP):c.6577G>A (p.Glu2193Lys)
|
rs397516952
|
|
|
NM_004415.4(DSP):c.6586A>G (p.Thr2196Ala)
|
rs2113700741
|
|
|
NM_004415.4(DSP):c.6595C>G (p.Leu2199Val)
|
|
|
|
NM_004415.4(DSP):c.65C>G (p.Ser22Cys)
|
|
|
|
NM_004415.4(DSP):c.6620G>C (p.Ser2207Thr)
|
|
|
|
NM_004415.4(DSP):c.663C>G (p.His221Gln)
|
rs1561683654
|
|
|
NM_004415.4(DSP):c.665G>T (p.Arg222Leu)
|
|
|
|
NM_004415.4(DSP):c.6667G>A (p.Val2223Ile)
|
|
|
|
NM_004415.4(DSP):c.6701A>T (p.Asn2234Ile)
|
|
|
|
NM_004415.4(DSP):c.6718C>A (p.Gln2240Lys)
|
rs374262024
|
|
|
NM_004415.4(DSP):c.6765G>T (p.Gln2255His)
|
rs766183320
|
|
|
NM_004415.4(DSP):c.6769T>G (p.Ser2257Ala)
|
rs1759547079
|
|
|
NM_004415.4(DSP):c.6776G>T (p.Cys2259Phe)
|
rs754635738
|
|
|
NM_004415.4(DSP):c.6778A>G (p.Ile2260Val)
|
|
|
|
NM_004415.4(DSP):c.6818G>A (p.Gly2273Asp)
|
|
|
|
NM_004415.4(DSP):c.6826G>A (p.Glu2276Lys)
|
|
|
|
NM_004415.4(DSP):c.6827A>G (p.Glu2276Gly)
|
|
|
|
NM_004415.4(DSP):c.682A>G (p.Ile228Val)
|
rs934038992
|
|
|
NM_004415.4(DSP):c.6853C>A (p.Pro2285Thr)
|
rs377085222
|
|
|
NM_004415.4(DSP):c.6859A>G (p.Thr2287Ala)
|
|
|
|
NM_004415.4(DSP):c.685G>T (p.Gly229Cys)
|
|
|
|
NM_004415.4(DSP):c.6895G>A (p.Gly2299Ser)
|
rs1561703092
|
|
|
NM_004415.4(DSP):c.6896G>C (p.Gly2299Ala)
|
|
|
|
NM_004415.4(DSP):c.6946T>C (p.Tyr2316His)
|
|
|
|
NM_004415.4(DSP):c.6950A>G (p.Lys2317Arg)
|
|
|
|
NM_004415.4(DSP):c.6955G>A (p.Gly2319Ser)
|
|
|
|
NM_004415.4(DSP):c.6967A>C (p.Ile2323Leu)
|
rs1759554116
|
|
|
NM_004415.4(DSP):c.6974T>G (p.Phe2325Cys)
|
rs1349503429
|
|
|
NM_004415.4(DSP):c.7009A>G (p.Thr2337Ala)
|
|
|
|
NM_004415.4(DSP):c.7021G>A (p.Asp2341Asn)
|
rs200314271
|
|
|
NM_004415.4(DSP):c.7031C>G (p.Thr2344Arg)
|
|
|
|
NM_004415.4(DSP):c.7034G>T (p.Gly2345Val)
|
|
|
|
NM_004415.4(DSP):c.7045T>C (p.Ser2349Pro)
|
|
|
|
NM_004415.4(DSP):c.7069G>C (p.Glu2357Gln)
|
|
|
|
NM_004415.4(DSP):c.7084G>A (p.Gly2362Ser)
|
|
|
|
NM_004415.4(DSP):c.7093A>G (p.Ile2365Val)
|
|
|
|
NM_004415.4(DSP):c.7105G>A (p.Glu2369Lys)
|
|
|
|
NM_004415.4(DSP):c.7120A>G (p.Thr2374Ala)
|
rs1759559299
|
|
|
NM_004415.4(DSP):c.7129_7152del (p.Ile2377_His2384del)
|
rs2113701695
|
|
|
NM_004415.4(DSP):c.7163T>C (p.Val2388Ala)
|
|
|
|
NM_004415.4(DSP):c.716A>G (p.Lys239Arg)
|
|
|
|
NM_004415.4(DSP):c.7179G>T (p.Lys2393Asn)
|
rs1759561425
|
|
|
NM_004415.4(DSP):c.7183G>A (p.Gly2395Ser)
|
|
|
|
NM_004415.4(DSP):c.7186T>A (p.Tyr2396Asn)
|
rs863225268
|
|
|
NM_004415.4(DSP):c.71C>T (p.Pro24Leu)
|
rs978383808
|
|
|
NM_004415.4(DSP):c.7204A>G (p.Ser2402Gly)
|
|
|
|
NM_004415.4(DSP):c.7213C>T (p.Leu2405Phe)
|
rs774401264
|
|
|
NM_004415.4(DSP):c.7223C>A (p.Pro2408Gln)
|
rs2113701876
|
|
|
NM_004415.4(DSP):c.7246T>C (p.Phe2416Leu)
|
rs2113701908
|
|
|
NM_004415.4(DSP):c.7249G>A (p.Asp2417Asn)
|
|
|
|
NM_004415.4(DSP):c.726+5T>G
|
|
|
|
NM_004415.4(DSP):c.7268A>G (p.Asn2423Ser)
|
|
|
|
NM_004415.4(DSP):c.726G>A (p.Leu242=)
|
|
|
|
NM_004415.4(DSP):c.727C>T (p.Arg243Cys)
|
rs1191710190
|
|
|
NM_004415.4(DSP):c.7284A>G (p.Gln2428=)
|
rs1759565168
|
|
|
NM_004415.4(DSP):c.7290A>C (p.Lys2430Asn)
|
|
|
|
NM_004415.4(DSP):c.7305G>C (p.Lys2435Asn)
|
rs1554108998
|
|
|
NM_004415.4(DSP):c.7322T>C (p.Leu2441Pro)
|
|
|
|
NM_004415.4(DSP):c.7327C>T (p.Leu2443Phe)
|
rs864309585
|
|
|
NM_004415.4(DSP):c.7339A>G (p.Lys2447Glu)
|
rs1759567175
|
|
|
NM_004415.4(DSP):c.7346A>C (p.Lys2449Thr)
|
rs1581823888
|
|
|
NM_004415.4(DSP):c.7360C>G (p.Gln2454Glu)
|
rs373890201
|
|
|
NM_004415.4(DSP):c.7370A>C (p.Gln2457Pro)
|
rs1206306343
|
|
|
NM_004415.4(DSP):c.7372A>G (p.Lys2458Glu)
|
rs1759568876
|
|
|
NM_004415.4(DSP):c.7381C>T (p.Leu2461Phe)
|
rs201863784
|
|
|
NM_004415.4(DSP):c.7382T>A (p.Leu2461His)
|
|
|
|
NM_004415.4(DSP):c.7385G>A (p.Arg2462Lys)
|
|
|
|
NM_004415.4(DSP):c.73G>T (p.Asp25Tyr)
|
rs2113628779
|
|
|
NM_004415.4(DSP):c.7418C>T (p.Thr2473Ile)
|
rs1389902511
|
|
|
NM_004415.4(DSP):c.7420A>T (p.Asn2474Tyr)
|
|
|
|
NM_004415.4(DSP):c.7421A>G (p.Asn2474Ser)
|
rs1759570598
|
|
|
NM_004415.4(DSP):c.742A>G (p.Ile248Val)
|
|
|
|
NM_004415.4(DSP):c.743T>C (p.Ile248Thr)
|
rs1455602530
|
|
|
NM_004415.4(DSP):c.7456G>A (p.Gly2486Ser)
|
|
|
|
NM_004415.4(DSP):c.7477T>G (p.Phe2493Val)
|
rs138798656
|
|
|
NM_004415.4(DSP):c.7480A>G (p.Lys2494Glu)
|
|
|
|
NM_004415.4(DSP):c.7481A>G (p.Lys2494Arg)
|
|
|
|
NM_004415.4(DSP):c.7499A>G (p.Glu2500Gly)
|
|
|
|
NM_004415.4(DSP):c.7503_7508del (p.Cys2501_Glu2502del)
|
rs1473818298
|
|
|
NM_004415.4(DSP):c.7526C>T (p.Thr2509Met)
|
|
|
|
NM_004415.4(DSP):c.7528G>A (p.Gly2510Arg)
|
|
|
|
NM_004415.4(DSP):c.7534G>C (p.Asp2512His)
|
|
|
|
NM_004415.4(DSP):c.7541C>T (p.Ser2514Phe)
|
|
|
|
NM_004415.4(DSP):c.7543_7544delinsCGTGGTATCTGGGAGGCCTACAAGAAGGGCCTAATTGATTATGAAACCTTCAAAGAACTGTGTGAGCAGGAATGTGAATGGGAAGAAATAACCATCACGGGATCAGATGGCTCCCGTGGTAA (p.Thr2515delinsArgGlyIleTrpGluAlaTyrLysLysGlyLeuIleAspTyrGluThrPheLysGluLeuCysGluGlnGluCysGluTrpGluGluIleThrIleThrGlySerAspGlySerArgGlyAsn)
|
rs2113702542
|
|
|
NM_004415.4(DSP):c.7579C>G (p.Gln2527Glu)
|
rs2113702673
|
|
|
NM_004415.4(DSP):c.7582T>G (p.Tyr2528Asp)
|
rs2113702680
|
|
|
NM_004415.4(DSP):c.7585G>A (p.Asp2529Asn)
|
rs1759581655
|
|
|
NM_004415.4(DSP):c.7588A>G (p.Ile2530Val)
|
rs397516958
|
|
|
NM_004415.4(DSP):c.7598C>G (p.Ala2533Gly)
|
|
|
|
NM_004415.4(DSP):c.7604A>G (p.Asp2535Gly)
|
rs1759583033
|
|
|
NM_004415.4(DSP):c.7610G>A (p.Gly2537Asp)
|
|
|
|
NM_004415.4(DSP):c.7610G>T (p.Gly2537Val)
|
|
|
|
NM_004415.4(DSP):c.7618G>C (p.Asp2540His)
|
|
|
|
NM_004415.4(DSP):c.7619A>T (p.Asp2540Val)
|
|
|
|
NM_004415.4(DSP):c.7620C>A (p.Asp2540Glu)
|
rs2113702817
|
|
|
NM_004415.4(DSP):c.762G>T (p.Glu254Asp)
|
rs1406835654
|
|
|
NM_004415.4(DSP):c.7633G>T (p.Asp2545Tyr)
|
|
|
|
NM_004415.4(DSP):c.7635T>G (p.Asp2545Glu)
|
rs1759584844
|
|
|
NM_004415.4(DSP):c.7636C>G (p.Gln2546Glu)
|
|
|
|
NM_004415.4(DSP):c.7642C>G (p.Arg2548Gly)
|
|
|
|
NM_004415.4(DSP):c.7646C>T (p.Ser2549Phe)
|
|
|
|
NM_004415.4(DSP):c.7657A>G (p.Ser2553Gly)
|
rs769601021
|
|
|
NM_004415.4(DSP):c.7675G>A (p.Asp2559Asn)
|
rs2113702999
|
|
|
NM_004415.4(DSP):c.7679T>C (p.Met2560Thr)
|
|
|
|
NM_004415.4(DSP):c.7685_7687del (p.Ser2562del)
|
rs762495630
|
|
|
NM_004415.4(DSP):c.7689G>C (p.Leu2563Phe)
|
|
|
|
NM_004415.4(DSP):c.7689_7694dup (p.Lys2564_Asn2565insLysLys)
|
rs1554109062
|
|
|
NM_004415.4(DSP):c.769A>G (p.Asn257Asp)
|
rs1758773914
|
|
|
NM_004415.4(DSP):c.7706C>A (p.Thr2569Asn)
|
|
|
|
NM_004415.4(DSP):c.7708A>G (p.Ser2570Gly)
|
rs1456123705
|
|
|
NM_004415.4(DSP):c.7716C>T (p.Ser2572=)
|
rs773824736
|
|
|
NM_004415.4(DSP):c.7718T>C (p.Met2573Thr)
|
rs1759589574
|
|
|
NM_004415.4(DSP):c.7735G>C (p.Asp2579His)
|
rs750744914
|
|
|
NM_004415.4(DSP):c.7736A>T (p.Asp2579Val)
|
|
|
|
NM_004415.4(DSP):c.7754C>T (p.Ser2585Phe)
|
rs1018344778
|
|
|
NM_004415.4(DSP):c.7756C>G (p.Arg2586Gly)
|
rs1420689736
|
|
|
NM_004415.4(DSP):c.776T>C (p.Leu259Pro)
|
rs1758774627
|
|
|
NM_004415.4(DSP):c.777+5G>A
|
|
|
|
NM_004415.4(DSP):c.778-11C>A
|
|
|
|
NM_004415.4(DSP):c.778-12C>T
|
|
|
|
NM_004415.4(DSP):c.778-4G>C
|
rs1296932263
|
|
|
NM_004415.4(DSP):c.778-6G>A
|
|
|
|
NM_004415.4(DSP):c.781G>A (p.Ala261Thr)
|
rs967465931
|
|
|
NM_004415.4(DSP):c.7820G>T (p.Ser2607Ile)
|
|
|
|
NM_004415.4(DSP):c.7823C>A (p.Ser2608Tyr)
|
rs777066674
|
|
|
NM_004415.4(DSP):c.7832A>T (p.Asp2611Val)
|
|
|
|
NM_004415.4(DSP):c.7837C>G (p.Leu2613Val)
|
rs1286275087
|
|
|
NM_004415.4(DSP):c.7845A>C (p.Glu2615Asp)
|
rs1367058874
|
|
|
NM_004415.4(DSP):c.7861G>A (p.Ala2621Thr)
|
rs1554109107
|
|
|
NM_004415.4(DSP):c.7868T>G (p.Phe2623Cys)
|
|
|
|
NM_004415.4(DSP):c.7886A>G (p.Glu2629Gly)
|
|
|
|
NM_004415.4(DSP):c.7894T>C (p.Ser2632Pro)
|
|
|
|
NM_004415.4(DSP):c.7907G>A (p.Gly2636Asp)
|
rs1759605211
|
|
|
NM_004415.4(DSP):c.7909A>G (p.Ile2637Val)
|
rs1759605309
|
|
|
NM_004415.4(DSP):c.7911A>G (p.Ile2637Met)
|
rs2113703589
|
|
|
NM_004415.4(DSP):c.7920C>T (p.Gly2640=)
|
|
|
|
NM_004415.4(DSP):c.7927G>A (p.Asp2643Asn)
|
|
|
|
NM_004415.4(DSP):c.7942C>G (p.Gln2648Glu)
|
rs2113703697
|
|
|
NM_004415.4(DSP):c.795G>C (p.Arg265Ser)
|
|
|
|
NM_004415.4(DSP):c.796A>C (p.Met266Leu)
|
rs1758827543
|
|
|
NM_004415.4(DSP):c.7987C>G (p.Pro2663Ala)
|
|
|
|
NM_004415.4(DSP):c.7991C>A (p.Thr2664Asn)
|
rs1759611499
|
|
|
NM_004415.4(DSP):c.8000A>G (p.Gln2667Arg)
|
|
|
|
NM_004415.4(DSP):c.801T>A (p.Asp267Glu)
|
|
|
|
NM_004415.4(DSP):c.8052G>A (p.Met2684Ile)
|
rs1408242511
|
|
|
NM_004415.4(DSP):c.8071G>C (p.Ala2691Pro)
|
rs1006955897
|
|
|
NM_004415.4(DSP):c.8084T>G (p.Phe2695Cys)
|
rs764994940
|
|
|
NM_004415.4(DSP):c.8085C>A (p.Phe2695Leu)
|
rs1759617585
|
|
|
NM_004415.4(DSP):c.8093T>C (p.Phe2698Ser)
|
rs1759618009
|
|
|
NM_004415.4(DSP):c.8101G>A (p.Val2701Met)
|
rs1561704928
|
|
|
NM_004415.4(DSP):c.8121G>T (p.Met2707Ile)
|
rs2113704161
|
|
|
NM_004415.4(DSP):c.8122T>A (p.Ser2708Thr)
|
rs924262414
|
|
|
NM_004415.4(DSP):c.8138T>G (p.Val2713Gly)
|
rs1759621076
|
|
|
NM_004415.4(DSP):c.8149T>C (p.Trp2717Arg)
|
rs1554109176
|
|
|
NM_004415.4(DSP):c.8152C>G (p.Leu2718Val)
|
|
|
|
NM_004415.4(DSP):c.8159A>G (p.Tyr2720Cys)
|
rs367972703
|
|
|
NM_004415.4(DSP):c.8165C>G (p.Ala2722Gly)
|
|
|
|
NM_004415.4(DSP):c.8171A>G (p.Gln2724Arg)
|
rs1759623133
|
|
|
NM_004415.4(DSP):c.8188del (p.Gln2730fs)
|
rs886038929
|
|
|
NM_004415.4(DSP):c.8195T>G (p.Leu2732Arg)
|
|
|
|
NM_004415.4(DSP):c.8197A>C (p.Thr2733Pro)
|
|
|
|
NM_004415.4(DSP):c.8201G>A (p.Gly2734Glu)
|
rs1561705241
|
|
|
NM_004415.4(DSP):c.8207T>A (p.Leu2736His)
|
rs1759625908
|
|
|
NM_004415.4(DSP):c.8216C>G (p.Pro2739Arg)
|
rs761527198
|
|
|
NM_004415.4(DSP):c.8218G>C (p.Glu2740Gln)
|
|
|
|
NM_004415.4(DSP):c.8230A>G (p.Arg2744Gly)
|
rs1198357388
|
|
|
NM_004415.4(DSP):c.8242G>A (p.Glu2748Lys)
|
|
|
|
NM_004415.4(DSP):c.8249C>T (p.Ala2750Val)
|
|
|
|
NM_004415.4(DSP):c.8252T>C (p.Ile2751Thr)
|
|
|
|
NM_004415.4(DSP):c.8252T>G (p.Ile2751Ser)
|
|
|
|
NM_004415.4(DSP):c.8255G>C (p.Arg2752Pro)
|
rs769706539
|
|
|
NM_004415.4(DSP):c.8257A>C (p.Lys2753Gln)
|
rs1554109205
|
|
|
NM_004415.4(DSP):c.8272G>A (p.Gly2758Ser)
|
|
|
|
NM_004415.4(DSP):c.8275C>T (p.Arg2759Cys)
|
rs148254632
|
|
|
NM_004415.4(DSP):c.8276G>A (p.Arg2759His)
|
rs936541705
|
|
|
NM_004415.4(DSP):c.8284C>T (p.Gln2762Ter)
|
rs376703565
|
|
|
NM_004415.4(DSP):c.8288G>A (p.Arg2763Lys)
|
|
|
|
NM_004415.4(DSP):c.8291_8292insTGCT (p.Gln2765fs)
|
rs756925801
|
|
|
NM_004415.4(DSP):c.8296G>A (p.Asp2766Asn)
|
rs1759633378
|
|
|
NM_004415.4(DSP):c.8299A>G (p.Thr2767Ala)
|
rs1304137526
|
|
|
NM_004415.4(DSP):c.8300C>G (p.Thr2767Ser)
|
|
|
|
NM_004415.4(DSP):c.8300C>T (p.Thr2767Ile)
|
rs34884895
|
|
|
NM_004415.4(DSP):c.8304C>G (p.Ser2768Arg)
|
|
|
|
NM_004415.4(DSP):c.8316A>C (p.Lys2772Asn)
|
|
|
|
NM_004415.4(DSP):c.8319C>G (p.Ile2773Met)
|
|
|
|
NM_004415.4(DSP):c.8319_8341del (p.Leu2774fs)
|
rs2113704840
|
|
|
NM_004415.4(DSP):c.8330C>T (p.Pro2777Leu)
|
|
|
|
NM_004415.4(DSP):c.8342T>C (p.Leu2781Ser)
|
|
|
|
NM_004415.4(DSP):c.8346A>T (p.Lys2782Asn)
|
|
|
|
NM_004415.4(DSP):c.8363C>T (p.Ala2788Val)
|
rs748307773
|
|
|
NM_004415.4(DSP):c.836C>T (p.Thr279Met)
|
rs1758829264
|
|
|
NM_004415.4(DSP):c.8371C>G (p.Arg2791Gly)
|
rs867430601
|
|
|
NM_004415.4(DSP):c.8371C>T (p.Arg2791Cys)
|
rs867430601
|
|
|
NM_004415.4(DSP):c.8386G>A (p.Asp2796Asn)
|
|
|
|
NM_004415.4(DSP):c.8386G>C (p.Asp2796His)
|
|
|
|
NM_004415.4(DSP):c.8387A>G (p.Asp2796Gly)
|
|
|
|
NM_004415.4(DSP):c.8387A>T (p.Asp2796Val)
|
rs888716643
|
|
|
NM_004415.4(DSP):c.8390del (p.Ile2797fs)
|
|
|
|
NM_004415.4(DSP):c.8392A>T (p.Thr2798Ser)
|
rs771976131
|
|
|
NM_004415.4(DSP):c.8396G>C (p.Gly2799Ala)
|
|
|
|
NM_004415.4(DSP):c.8401C>T (p.Arg2801Cys)
|
rs760215987
|
|
|
NM_004415.4(DSP):c.8414C>G (p.Ala2805Gly)
|
|
|
|
NM_004415.4(DSP):c.8417C>T (p.Ala2806Val)
|
|
|
|
NM_004415.4(DSP):c.8426C>T (p.Ser2809Leu)
|
|
|
|
NM_004415.4(DSP):c.8438T>C (p.Leu2813Ser)
|
|
|
|
NM_004415.4(DSP):c.8440C>A (p.Pro2814Thr)
|
rs1303168294
|
|
|
NM_004415.4(DSP):c.8442dup (p.Ser2815fs)
|
rs1554109247
|
|
|
NM_004415.4(DSP):c.8450A>G (p.Tyr2817Cys)
|
|
|
|
NM_004415.4(DSP):c.8450ACA[1] (p.Asn2818del)
|
|
|
|
NM_004415.4(DSP):c.8455A>G (p.Met2819Val)
|
rs138329459
|
|
|
NM_004415.4(DSP):c.8462_8463del (p.Ser2821fs)
|
rs2113705206
|
|
|
NM_004415.4(DSP):c.8468C>T (p.Pro2823Leu)
|
rs1404710139
|
|
|
NM_004415.4(DSP):c.8469_8487del (p.Gly2824fs)
|
rs2113705210
|
|
|
NM_004415.4(DSP):c.8471_8483del (p.Gly2824fs)
|
rs1759642975
|
|
|
NM_004415.4(DSP):c.8472_8495del (p.2827SGSR[3])
|
rs1267022420
|
|
|
NM_004415.4(DSP):c.8476C>A (p.Arg2826Ser)
|
rs139969658
|
|
|
NM_004415.4(DSP):c.8480C>T (p.Ser2827Phe)
|
rs746773800
|
|
|
NM_004415.4(DSP):c.8482G>C (p.Gly2828Arg)
|
rs369682599
|
|
|
NM_004415.4(DSP):c.8484_8507del (p.2827SGSR[3])
|
|
|
|
NM_004415.4(DSP):c.8486C>G (p.Ser2829Cys)
|
rs2113705415
|
|
|
NM_004415.4(DSP):c.8488C>A (p.Arg2830Ser)
|
rs1354218745
|
|
|
NM_004415.4(DSP):c.8488C>T (p.Arg2830Cys)
|
rs1354218745
|
|
|
NM_004415.4(DSP):c.848T>G (p.Ile283Ser)
|
|
|
|
NM_004415.4(DSP):c.8493_8504dup (p.2827_2830SGSR[6])
|
rs748194022
|
|
|
NM_004415.4(DSP):c.8493_8516del (p.2827_2830SGSR[3])
|
rs1554109280
|
|
|
NM_004415.4(DSP):c.8496ATCTCGCTCCGG[3] (p.2827SGSR[6])
|
rs397516971
|
|
|
NM_004415.4(DSP):c.8496_8500dup (p.Arg2834fs)
|
|
|
|
NM_004415.4(DSP):c.8506G>A (p.Gly2836Arg)
|
|
|
|
NM_004415.4(DSP):c.8513G>A (p.Arg2838His)
|
rs930055191
|
|
|
NM_004415.4(DSP):c.8516C>T (p.Ser2839Phe)
|
rs750438076
|
|
|
NM_004415.4(DSP):c.8524C>G (p.Arg2842Gly)
|
|
|
|
NM_004415.4(DSP):c.8525G>A (p.Arg2842His)
|
|
|
|
NM_004415.4(DSP):c.852G>A (p.Met284Ile)
|
rs794728110
|
|
|
NM_004415.4(DSP):c.8531G>T (p.Gly2844Val)
|
rs374137476
|
|
|
NM_004415.4(DSP):c.8536C>T (p.Arg2846Trp)
|
|
|
|
NM_004415.4(DSP):c.8552A>G (p.Asp2851Gly)
|
|
|
|
NM_004415.4(DSP):c.8573A>G (p.Tyr2858Cys)
|
rs1759654706
|
|
|
NM_004415.4(DSP):c.8577_8588del (p.2858YS[1])
|
rs2113705755
|
|
|
NM_004415.4(DSP):c.8579A>G (p.Tyr2860Cys)
|
|
|
|
NM_004415.4(DSP):c.8583del (p.Tyr2862fs)
|
rs765683790
|
|
|
NM_004415.4(DSP):c.8588C>T (p.Ser2863Leu)
|
|
|
|
NM_004415.4(DSP):c.8596AGT[1] (p.Ser2868del)
|
|
|
|
NM_004415.4(DSP):c.859A>C (p.Asn287His)
|
rs1554106503
|
|
|
NM_004415.4(DSP):c.8602T>A (p.Ser2868Thr)
|
rs1554109346
|
|
|
NM_004415.4(DSP):c.860A>C (p.Asn287Thr)
|
|
|
|
NM_004415.4(DSP):c.865T>C (p.Cys289Arg)
|
|
|
|
NM_004415.4(DSP):c.868G>A (p.Glu290Lys)
|
rs397516974
|
|
|
NM_004415.4(DSP):c.868GAG[5] (p.Glu293dup)
|
rs1561685368
|
|
|
NM_004415.4(DSP):c.889G>C (p.Asp297His)
|
rs201930322
|
|
|
NM_004415.4(DSP):c.889G>T (p.Asp297Tyr)
|
rs201930322
|
|
|
NM_004415.4(DSP):c.892T>G (p.Trp298Gly)
|
|
|
|
NM_004415.4(DSP):c.8G>A (p.Cys3Tyr)
|
rs760993985
|
|
|
NM_004415.4(DSP):c.905A>T (p.Asn302Ile)
|
|
|
|
NM_004415.4(DSP):c.910A>C (p.Asn304His)
|
rs2113669485
|
|
|
NM_004415.4(DSP):c.913A>G (p.Ile305Val)
|
rs17604693
|
|
|
NM_004415.4(DSP):c.922A>C (p.Lys308Gln)
|
rs1060500617
|
|
|
NM_004415.4(DSP):c.931G>C (p.Ala311Pro)
|
|
|
|
NM_004415.4(DSP):c.935_937del (p.Phe312del)
|
rs794728138
|
|
|
NM_004415.4(DSP):c.939+2_939+3insCC
|
rs2113669596
|
|
|
NM_004415.4(DSP):c.939+4A>C
|
|
|
|
NM_004415.4(DSP):c.940-7T>G
|
rs1368622056
|
|
|
NM_004415.4(DSP):c.944G>C (p.Arg315Pro)
|
|
|
|
NM_004415.4(DSP):c.944_945delinsAA (p.Arg315Gln)
|
|
|
|
NM_004415.4(DSP):c.94A>G (p.Ser32Gly)
|
rs2113628871
|
|
|
NM_004415.4(DSP):c.950G>C (p.Ser317Thr)
|
|
|
|
NM_004415.4(DSP):c.954A>C (p.Gln318His)
|
rs1023875624
|
|
|
NM_004415.4(DSP):c.955C>G (p.Leu319Val)
|
rs777852039
|
|
|
NM_004415.4(DSP):c.956T>C (p.Leu319Pro)
|
|
|
|
NM_004415.4(DSP):c.962T>A (p.Val321Asp)
|
|
|
|
NM_004415.4(DSP):c.968A>G (p.Glu323Gly)
|
rs1064795408
|
|
|
NM_004415.4(DSP):c.969_974del (p.322KE[1])
|
|
|
|
NM_004415.4(DSP):c.97G>A (p.Gly33Ser)
|
rs1581777550
|
|
|
NM_004415.4(DSP):c.986T>C (p.Leu329Pro)
|
|
|
|
NM_004415.4(DSP):c.992A>C (p.Gln331Pro)
|
rs746517026
|
|
|
NM_004415.4(DSP):c.998G>C (p.Ser333Thr)
|
rs749695729
|
|
|
NM_004453.4(ETFDH):c.100T>A (p.Ser34Thr)
|
|
|
|
NM_004453.4(ETFDH):c.1037A>G (p.His346Arg)
|
|
|
|
NM_004453.4(ETFDH):c.1054A>G (p.Thr352Ala)
|
|
|
|
NM_004453.4(ETFDH):c.1055C>A (p.Thr352Asn)
|
rs2150312268
|
|
|
NM_004453.4(ETFDH):c.1061A>C (p.Glu354Ala)
|
rs2150312279
|
|
|
NM_004453.4(ETFDH):c.1093G>T (p.Ala365Ser)
|
|
|
|
NM_004453.4(ETFDH):c.1106G>C (p.Gly369Ala)
|
rs754418186
|
|
|
NM_004453.4(ETFDH):c.1108G>A (p.Gly370Ser)
|
rs1774393063
|
|
|
NM_004453.4(ETFDH):c.1116G>C (p.Gln372His)
|
|
|
|
NM_004453.4(ETFDH):c.1117T>C (p.Ser373Pro)
|
rs1774518301
|
|
|
NM_004453.4(ETFDH):c.1118C>T (p.Ser373Phe)
|
rs1774518388
|
|
|
NM_004453.4(ETFDH):c.1120A>G (p.Ile374Val)
|
|
|
|
NM_004453.4(ETFDH):c.1144G>A (p.Gly382Ser)
|
rs2126309213
|
|
|
NM_004453.4(ETFDH):c.1144G>T (p.Gly382Cys)
|
|
|
|
NM_004453.4(ETFDH):c.1178A>G (p.Asn393Ser)
|
|
|
|
NM_004453.4(ETFDH):c.1244T>C (p.Phe415Ser)
|
|
|
|
NM_004453.4(ETFDH):c.1256C>T (p.Thr419Ile)
|
|
|
|
NM_004453.4(ETFDH):c.125T>C (p.Ile42Thr)
|
|
|
|
NM_004453.4(ETFDH):c.1285G>C (p.Gly429Arg)
|
|
|
|
NM_004453.4(ETFDH):c.1286-13T>C
|
|
|
|
NM_004453.4(ETFDH):c.1286-15T>A
|
rs1248795834
|
|
|
NM_004453.4(ETFDH):c.1309G>A (p.Asp437Asn)
|
|
|
|
NM_004453.4(ETFDH):c.1336A>C (p.Lys446Gln)
|
rs1431935282
|
|
|
NM_004453.4(ETFDH):c.1360A>G (p.Ile454Val)
|
rs766776740
|
|
|
NM_004453.4(ETFDH):c.1361T>C (p.Ile454Thr)
|
rs2126314946
|
|
|
NM_004453.4(ETFDH):c.1384C>G (p.Leu462Val)
|
|
|
|
NM_004453.4(ETFDH):c.1388G>A (p.Gly463Asp)
|
rs1561251388
|
|
|
NM_004453.4(ETFDH):c.1397G>A (p.Gly466Glu)
|
rs1774612717
|
|
|
NM_004453.4(ETFDH):c.139A>G (p.Thr47Ala)
|
rs924962456
|
|
|
NM_004453.4(ETFDH):c.1401G>T (p.Gly467=)
|
rs1774613217
|
|
|
NM_004453.4(ETFDH):c.1431A>G (p.Ile477Met)
|
rs2126315307
|
|
|
NM_004453.4(ETFDH):c.1436G>C (p.Arg479Thr)
|
rs1774615246
|
|
|
NM_004453.4(ETFDH):c.1444G>A (p.Glu482Lys)
|
rs1774615624
|
|
|
NM_004453.4(ETFDH):c.1453A>C (p.Thr485Pro)
|
rs1774616683
|
|
|
NM_004453.4(ETFDH):c.1472C>T (p.Ser491Phe)
|
|
|
|
NM_004453.4(ETFDH):c.1484G>A (p.Arg495Gln)
|
|
|
|
NM_004453.4(ETFDH):c.1539G>C (p.Gln513His)
|
rs1445646586
|
|
|
NM_004453.4(ETFDH):c.1541T>C (p.Ile514Thr)
|
|
|
|
NM_004453.4(ETFDH):c.154G>A (p.Asp52Asn)
|
rs2150304401
|
|
|
NM_004453.4(ETFDH):c.1582A>G (p.Asn528Asp)
|
|
|
|
NM_004453.4(ETFDH):c.1597C>A (p.Gln533Lys)
|
rs2126316568
|
|
|
NM_004453.4(ETFDH):c.1615T>G (p.Leu539Val)
|
|
|
|
NM_004453.4(ETFDH):c.1628G>A (p.Ser543Asn)
|
|
|
|
NM_004453.4(ETFDH):c.1631T>C (p.Ile544Thr)
|
|
|
|
NM_004453.4(ETFDH):c.164A>G (p.Lys55Arg)
|
|
|
|
NM_004453.4(ETFDH):c.1654A>C (p.Ile552Leu)
|
|
|
|
NM_004453.4(ETFDH):c.1660G>T (p.Asp554Tyr)
|
|
|
|
NM_004453.4(ETFDH):c.1664G>A (p.Gly555Glu)
|
rs2126316873
|
|
|
NM_004453.4(ETFDH):c.1680C>A (p.Phe560Leu)
|
|
|
|
NM_004453.4(ETFDH):c.1705G>T (p.Val569Leu)
|
|
|
|
NM_004453.4(ETFDH):c.1711G>C (p.Val571Leu)
|
|
|
|
NM_004453.4(ETFDH):c.1720G>A (p.Gly574Ser)
|
rs867281765
|
|
|
NM_004453.4(ETFDH):c.1739A>G (p.Gln580Arg)
|
rs749989069
|
|
|
NM_004453.4(ETFDH):c.1750C>G (p.Gln584Glu)
|
|
|
|
NM_004453.4(ETFDH):c.1759G>A (p.Val587Ile)
|
|
|
|
NM_004453.4(ETFDH):c.1759G>T (p.Val587Leu)
|
|
|
|
NM_004453.4(ETFDH):c.1781T>C (p.Ile594Thr)
|
|
|
|
NM_004453.4(ETFDH):c.1781_1783dup (p.Ile594dup)
|
rs1774700761
|
|
|
NM_004453.4(ETFDH):c.1793G>A (p.Ser598Asn)
|
|
|
|
NM_004453.4(ETFDH):c.1798A>C (p.Asn600His)
|
|
|
|
NM_004453.4(ETFDH):c.1802T>A (p.Ile601Asn)
|
|
|
|
NM_004453.4(ETFDH):c.1816C>A (p.Pro606Thr)
|
rs1292587000
|
|
|
NM_004453.4(ETFDH):c.1834C>T (p.Pro612Ser)
|
|
|
|
NM_004453.4(ETFDH):c.1840T>A (p.Tyr614Asn)
|
|
|
|
NM_004453.4(ETFDH):c.214G>A (p.Val72Ile)
|
|
|
|
NM_004453.4(ETFDH):c.235G>A (p.Ala79Thr)
|
|
|
|
NM_004453.4(ETFDH):c.25T>A (p.Ser9Thr)
|
rs1175266968
|
|
|
NM_004453.4(ETFDH):c.269T>C (p.Leu90Ser)
|
|
|
|
NM_004453.4(ETFDH):c.271G>T (p.Ala91Ser)
|
rs1208091864
|
|
|
NM_004453.4(ETFDH):c.284A>G (p.Glu95Gly)
|
rs1580396806
|
|
|
NM_004453.4(ETFDH):c.320C>T (p.Ala107Val)
|
|
|
|
NM_004453.4(ETFDH):c.334C>A (p.His112Asn)
|
rs1773883564
|
|
|
NM_004453.4(ETFDH):c.34+5G>A
|
|
|
|
NM_004453.4(ETFDH):c.349G>C (p.Ala117Pro)
|
rs763106795
|
|
|
NM_004453.4(ETFDH):c.35-3C>A
|
rs1554031296
|
|
|
NM_004453.4(ETFDH):c.352T>G (p.Cys118Gly)
|
rs2150305281
|
|
|
NM_004453.4(ETFDH):c.353G>T (p.Cys118Phe)
|
rs1467428857
|
|
|
NM_004453.4(ETFDH):c.358G>C (p.Asp120His)
|
|
|
|
NM_004453.4(ETFDH):c.359A>G (p.Asp120Gly)
|
rs1773885189
|
|
|
NM_004453.4(ETFDH):c.373A>G (p.Lys125Glu)
|
|
|
|
NM_004453.4(ETFDH):c.376G>A (p.Glu126Lys)
|
rs1773885660
|
|
|
NM_004453.4(ETFDH):c.385C>T (p.Pro129Ser)
|
rs985343342
|
|
|
NM_004453.4(ETFDH):c.405G>A (p.Gly135=)
|
|
|
|
NM_004453.4(ETFDH):c.42G>C (p.Gln14His)
|
|
|
|
NM_004453.4(ETFDH):c.43T>A (p.Cys15Ser)
|
|
|
|
NM_004453.4(ETFDH):c.454G>C (p.Glu152Gln)
|
rs2150306318
|
|
|
NM_004453.4(ETFDH):c.463A>G (p.Arg155Gly)
|
rs549150456
|
|
|
NM_004453.4(ETFDH):c.46T>A (p.Phe16Ile)
|
|
|
|
NM_004453.4(ETFDH):c.485C>T (p.Pro162Leu)
|
rs1773956133
|
|
|
NM_004453.4(ETFDH):c.488-9T>C
|
rs1554031705
|
|
|
NM_004453.4(ETFDH):c.511A>G (p.Asn171Asp)
|
|
|
|
NM_004453.4(ETFDH):c.512A>G (p.Asn171Ser)
|
rs1773969792
|
|
|
NM_004453.4(ETFDH):c.529G>A (p.Gly177Arg)
|
|
|
|
NM_004453.4(ETFDH):c.553G>A (p.Glu185Lys)
|
|
|
|
NM_004453.4(ETFDH):c.560C>T (p.Ala187Val)
|
rs369912835
|
|
|
NM_004453.4(ETFDH):c.569T>C (p.Leu190Pro)
|
rs1255103931
|
|
|
NM_004453.4(ETFDH):c.586C>A (p.Pro196Thr)
|
|
|
|
NM_004453.4(ETFDH):c.587_588delinsAA (p.Pro196Gln)
|
rs2150306642
|
|
|
NM_004453.4(ETFDH):c.608T>C (p.Val203Ala)
|
|
|
|
NM_004453.4(ETFDH):c.617A>C (p.His206Pro)
|
|
|
|
NM_004453.4(ETFDH):c.638G>C (p.Gly213Ala)
|
|
|
|
NM_004453.4(ETFDH):c.642T>G (p.Ile214Met)
|
rs201049444
|
|
|
NM_004453.4(ETFDH):c.655G>A (p.Val219Ile)
|
|
|
|
NM_004453.4(ETFDH):c.662T>A (p.Ile221Lys)
|
rs1580406086
|
|
|
NM_004453.4(ETFDH):c.665A>C (p.Gln222Pro)
|
rs1482632936
|
|
|
NM_004453.4(ETFDH):c.697A>G (p.Arg233Gly)
|
|
|
|
NM_004453.4(ETFDH):c.700G>A (p.Gly234Arg)
|
rs1032041993
|
|
|
NM_004453.4(ETFDH):c.761A>G (p.Lys254Arg)
|
rs1580411844
|
|
|
NM_004453.4(ETFDH):c.786G>T (p.Leu262Phe)
|
rs1450977775
|
|
|
NM_004453.4(ETFDH):c.805C>G (p.Gln269Glu)
|
rs1580411897
|
|
|
NM_004453.4(ETFDH):c.807A>C (p.Gln269His)
|
rs1265381182
|
|
|
NM_004453.4(ETFDH):c.818T>C (p.Ile273Thr)
|
|
|
|
NM_004453.4(ETFDH):c.831+6C>T
|
|
|
|
NM_004453.4(ETFDH):c.865G>A (p.Gly289Arg)
|
rs1774343332
|
|
|
NM_004453.4(ETFDH):c.887G>A (p.Gly296Asp)
|
|
|
|
NM_004453.4(ETFDH):c.922T>G (p.Phe308Val)
|
rs1218671512
|
|
|
NM_004453.4(ETFDH):c.934T>G (p.Leu312Val)
|
|
|
|
NM_004453.4(ETFDH):c.940G>A (p.Glu314Lys)
|
|
|
|
NM_004453.4(ETFDH):c.948A>G (p.Glu316=)
|
rs1774347347
|
|
|
NM_004453.4(ETFDH):c.952C>A (p.Leu318Ile)
|
rs763002171
|
|
|
NM_004453.4(ETFDH):c.962T>C (p.Leu321Pro)
|
rs1464356117
|
|
|
NM_004453.4(ETFDH):c.970G>C (p.Val324Leu)
|
rs1774348680
|
|
|
NM_004453.4(ETFDH):c.983A>G (p.Asp328Gly)
|
|
|
|
NM_004453.4(ETFDH):c.995C>T (p.Pro332Leu)
|
|
|
|
NM_004517.4(ILK):c.1001G>A (p.Arg334Gln)
|
|
|
|
NM_004517.4(ILK):c.1018G>A (p.Val340Ile)
|
rs2134570003
|
|
|
NM_004517.4(ILK):c.1031T>A (p.Phe344Tyr)
|
|
|
|
NM_004517.4(ILK):c.1046G>A (p.Arg349His)
|
rs377094824
|
|
|
NM_004517.4(ILK):c.1046G>T (p.Arg349Leu)
|
rs377094824
|
|
|
NM_004517.4(ILK):c.1052A>G (p.Tyr351Cys)
|
rs989434950
|
|
|
NM_004517.4(ILK):c.1075G>A (p.Glu359Lys)
|
|
|
|
NM_004517.4(ILK):c.1105_1108del (p.Asn369fs)
|
|
|
|
NM_004517.4(ILK):c.110C>T (p.Pro37Leu)
|
rs2134551114
|
|
|
NM_004517.4(ILK):c.1123A>C (p.Met375Leu)
|
|
|
|
NM_004517.4(ILK):c.1136C>T (p.Ala379Val)
|
|
|
|
NM_004517.4(ILK):c.1149G>A (p.Trp383Ter)
|
rs1855363075
|
|
|
NM_004517.4(ILK):c.1169T>C (p.Val390Ala)
|
|
|
|
NM_004517.4(ILK):c.1214C>T (p.Ala405Val)
|
rs2134575735
|
|
|
NM_004517.4(ILK):c.1228C>T (p.Arg410Trp)
|
|
|
|
NM_004517.4(ILK):c.1229G>A (p.Arg410Gln)
|
|
|
|
NM_004517.4(ILK):c.1238T>A (p.Ile413Asn)
|
rs1855399834
|
|
|
NM_004517.4(ILK):c.1252T>C (p.Ser418Pro)
|
rs1554900104
|
|
|
NM_004517.4(ILK):c.1256C>T (p.Pro419Leu)
|
rs1855401354
|
|
|
NM_004517.4(ILK):c.1258C>T (p.His420Tyr)
|
rs1554900107
|
|
|
NM_004517.4(ILK):c.1270C>G (p.Leu424Val)
|
rs2134576590
|
|
|
NM_004517.4(ILK):c.1275G>A (p.Met425Ile)
|
|
|
|
NM_004517.4(ILK):c.1301C>A (p.Ala434Glu)
|
rs2134576889
|
|
|
NM_004517.4(ILK):c.1321_1322del (p.Met441fs)
|
rs1855405973
|
|
|
NM_004517.4(ILK):c.1355A>C (p.Lys452Thr)
|
|
|
|
NM_004517.4(ILK):c.136C>T (p.Arg46Cys)
|
|
|
|
NM_004517.4(ILK):c.140C>G (p.Ser47Cys)
|
|
|
|
NM_004517.4(ILK):c.146T>C (p.Val49Ala)
|
rs201499797
|
|
|
NM_004517.4(ILK):c.149T>C (p.Val50Ala)
|
|
|
|
NM_004517.4(ILK):c.151G>C (p.Glu51Gln)
|
|
|
|
NM_004517.4(ILK):c.163A>G (p.Met55Val)
|
rs781296730
|
|
|
NM_004517.4(ILK):c.164_181del (p.Met55_Ile60del)
|
rs746571606
|
|
|
NM_004517.4(ILK):c.169G>A (p.Gly57Arg)
|
rs778110752
|
|
|
NM_004517.4(ILK):c.175C>G (p.Arg59Gly)
|
rs779428507
|
|
|
NM_004517.4(ILK):c.206C>T (p.Thr69Ile)
|
rs763031937
|
|
|
NM_004517.4(ILK):c.223G>C (p.Ala75Pro)
|
rs1564845235
|
|
|
NM_004517.4(ILK):c.236A>T (p.His79Leu)
|
rs1589934860
|
|
|
NM_004517.4(ILK):c.238C>T (p.Arg80Cys)
|
|
|
|
NM_004517.4(ILK):c.244A>G (p.Ile82Val)
|
|
|
|
NM_004517.4(ILK):c.252_255+9dup
|
|
|
|
NM_004517.4(ILK):c.264G>C (p.Gln88His)
|
|
|
|
NM_004517.4(ILK):c.266A>C (p.Tyr89Ser)
|
|
|
|
NM_004517.4(ILK):c.274G>A (p.Asp92Asn)
|
|
|
|
NM_004517.4(ILK):c.296A>C (p.His99Pro)
|
rs1173338186
|
|
|
NM_004517.4(ILK):c.352G>A (p.Asp118Asn)
|
rs2134557218
|
|
|
NM_004517.4(ILK):c.364A>T (p.Asn122Tyr)
|
|
|
|
NM_004517.4(ILK):c.377T>C (p.Val126Ala)
|
|
|
|
NM_004517.4(ILK):c.394T>G (p.Tyr132Asp)
|
|
|
|
NM_004517.4(ILK):c.395A>G (p.Tyr132Cys)
|
rs776660725
|
|
|
NM_004517.4(ILK):c.410T>C (p.Val137Ala)
|
|
|
|
NM_004517.4(ILK):c.422A>G (p.Lys141Arg)
|
rs187795252
|
|
|
NM_004517.4(ILK):c.427C>A (p.Pro143Thr)
|
|
|
|
NM_004517.4(ILK):c.436G>C (p.Glu146Gln)
|
rs2134557984
|
|
|
NM_004517.4(ILK):c.475C>G (p.Leu159Val)
|
|
|
|
NM_004517.4(ILK):c.482G>A (p.Arg161His)
|
|
|
|
NM_004517.4(ILK):c.504C>G (p.Phe168Leu)
|
rs1554898796
|
|
|
NM_004517.4(ILK):c.518C>T (p.Thr173Ile)
|
|
|
|
NM_004517.4(ILK):c.520C>T (p.Arg174Cys)
|
|
|
|
NM_004517.4(ILK):c.527G>A (p.Arg176Gln)
|
|
|
|
NM_004517.4(ILK):c.529C>T (p.Pro177Ser)
|
|
|
|
NM_004517.4(ILK):c.532C>T (p.Arg178Ter)
|
|
|
|
NM_004517.4(ILK):c.542C>T (p.Thr181Ile)
|
|
|
|
NM_004517.4(ILK):c.567C>T (p.Asp189=)
|
|
|
|
NM_004517.4(ILK):c.581A>C (p.Asn194Thr)
|
|
|
|
NM_004517.4(ILK):c.590C>T (p.Thr197Met)
|
rs767383055
|
|
|
NM_004517.4(ILK):c.591G>A (p.Thr197=)
|
|
|
|
NM_004517.4(ILK):c.601G>A (p.Glu201Lys)
|
rs1057518584
|
|
|
NM_004517.4(ILK):c.610T>G (p.Ser204Ala)
|
|
|
|
NM_004517.4(ILK):c.614G>A (p.Gly205Glu)
|
rs548542841
|
|
|
NM_004517.4(ILK):c.619C>G (p.Leu207Val)
|
|
|
|
NM_004517.4(ILK):c.641G>A (p.Gly214Asp)
|
|
|
|
NM_004517.4(ILK):c.649A>T (p.Ile217Phe)
|
|
|
|
NM_004517.4(ILK):c.655G>A (p.Val219Met)
|
|
|
|
NM_004517.4(ILK):c.656T>A (p.Val219Glu)
|
rs2134563739
|
|
|
NM_004517.4(ILK):c.673C>T (p.Arg225Ter)
|
rs1179732298
|
|
|
NM_004517.4(ILK):c.679T>A (p.Trp227Arg)
|
|
|
|
NM_004517.4(ILK):c.695G>A (p.Ser232Asn)
|
rs2134564162
|
|
|
NM_004517.4(ILK):c.700G>A (p.Asp234Asn)
|
|
|
|
NM_004517.4(ILK):c.707A>T (p.Asn236Ile)
|
|
|
|
NM_004517.4(ILK):c.738G>A (p.Ser246=)
|
|
|
|
NM_004517.4(ILK):c.758T>C (p.Val253Ala)
|
|
|
|
NM_004517.4(ILK):c.766G>A (p.Ala256Thr)
|
rs779240233
|
|
|
NM_004517.4(ILK):c.790C>T (p.His264Tyr)
|
|
|
|
NM_004517.4(ILK):c.794C>T (p.Pro265Leu)
|
|
|
|
NM_004517.4(ILK):c.79C>A (p.Leu27Ile)
|
rs2134516915
|
|
|
NM_004517.4(ILK):c.7G>C (p.Asp3His)
|
rs1342682020
|
|
|
NM_004517.4(ILK):c.815T>G (p.Met272Arg)
|
|
|
|
NM_004517.4(ILK):c.836A>G (p.Asn279Ser)
|
rs1855298413
|
|
|
NM_004517.4(ILK):c.838G>A (p.Val280Ile)
|
|
|
|
NM_004517.4(ILK):c.83A>G (p.Asn28Ser)
|
|
|
|
NM_004517.4(ILK):c.856+1G>A
|
rs1589940179
|
|
|
NM_004517.4(ILK):c.865G>A (p.Val289Met)
|
|
|
|
NM_004517.4(ILK):c.89+6C>T
|
rs2134517158
|
|
|
NM_004517.4(ILK):c.944T>C (p.Ile315Thr)
|
|
|
|
NM_004517.4(ILK):c.958C>A (p.Leu320Ile)
|
rs912510389
|
|
|
NM_004517.4(ILK):c.958C>T (p.Leu320Phe)
|
|
|
|
NM_004517.4(ILK):c.961A>G (p.Asn321Asp)
|
|
|
|
NM_004517.4(ILK):c.995C>T (p.Thr332Ile)
|
|
|
|
NM_004959.5(NR5A1):c.236_238del (p.Arg79del)
|
rs1554721859
|
|
|
NM_005159.5(ACTC1):c.101C>A (p.Pro34Gln)
|
rs1373760624
|
|
|
NM_005159.5(ACTC1):c.101C>G (p.Pro34Arg)
|
rs1373760624
|
|
|
NM_005159.5(ACTC1):c.1029del (p.Ile343fs)
|
rs2140429044
|
|
|
NM_005159.5(ACTC1):c.1034G>C (p.Gly345Ala)
|
|
|
|
NM_005159.5(ACTC1):c.1034del (p.Gly345fs)
|
rs2140429038
|
|
|
NM_005159.5(ACTC1):c.103T>G (p.Ser35Ala)
|
rs1595761987
|
|
|
NM_005159.5(ACTC1):c.1063C>T (p.Gln355Ter)
|
|
|
|
NM_005159.5(ACTC1):c.1067A>G (p.Gln356Arg)
|
rs2140428997
|
|
|
NM_005159.5(ACTC1):c.1070T>C (p.Met357Thr)
|
|
|
|
NM_005159.5(ACTC1):c.1079G>A (p.Ser360Asn)
|
|
|
|
NM_005159.5(ACTC1):c.1081A>G (p.Lys361Glu)
|
rs1595759946
|
|
|
NM_005159.5(ACTC1):c.1088A>G (p.Glu363Gly)
|
rs121912674
|
|
|
NM_005159.5(ACTC1):c.108C>G (p.Ile36Met)
|
|
|
|
NM_005159.5(ACTC1):c.1090T>A (p.Tyr364Asn)
|
rs1555418631
|
|
|
NM_005159.5(ACTC1):c.1093G>A (p.Asp365Asn)
|
rs2140428952
|
|
|
NM_005159.5(ACTC1):c.1093G>T (p.Asp365Tyr)
|
rs2140428952
|
|
|
NM_005159.5(ACTC1):c.10G>A (p.Asp4Asn)
|
rs730880408
|
|
|
NM_005159.5(ACTC1):c.10G>C (p.Asp4His)
|
rs730880408
|
|
|
NM_005159.5(ACTC1):c.1100C>G (p.Ala367Gly)
|
rs2140428937
|
|
|
NM_005159.5(ACTC1):c.1109C>G (p.Ser370Cys)
|
|
|
|
NM_005159.5(ACTC1):c.1112T>C (p.Ile371Thr)
|
rs730880407
|
|
|
NM_005159.5(ACTC1):c.1129T>G (p.Phe377Val)
|
rs2140428902
|
|
|
NM_005159.5(ACTC1):c.1133A>T (p.Ter378Leu)
|
|
|
|
NM_005159.5(ACTC1):c.124C>T (p.His42Tyr)
|
rs2140433161
|
|
|
NM_005159.5(ACTC1):c.129+3A>G
|
rs763452221
|
|
|
NM_005159.5(ACTC1):c.12C>A (p.Asp4Glu)
|
rs768526036
|
|
|
NM_005159.5(ACTC1):c.134T>C (p.Val45Ala)
|
rs1555418924
|
|
|
NM_005159.5(ACTC1):c.148G>A (p.Gly50Ser)
|
rs1555418921
|
|
|
NM_005159.5(ACTC1):c.151C>T (p.Gln51Ter)
|
|
|
|
NM_005159.5(ACTC1):c.157G>A (p.Asp53Asn)
|
|
|
|
NM_005159.5(ACTC1):c.166G>A (p.Val56Ile)
|
rs944740404
|
|
|
NM_005159.5(ACTC1):c.166G>C (p.Val56Leu)
|
rs944740404
|
|
|
NM_005159.5(ACTC1):c.178G>A (p.Ala60Thr)
|
rs1555418912
|
|
|
NM_005159.5(ACTC1):c.188A>G (p.Lys63Arg)
|
rs794727502
|
|
|
NM_005159.5(ACTC1):c.191G>A (p.Arg64Lys)
|
rs869025353
|
|
|
NM_005159.5(ACTC1):c.1A>G (p.Met1Val)
|
|
|
|
NM_005159.5(ACTC1):c.220G>C (p.Glu74Gln)
|
|
|
|
NM_005159.5(ACTC1):c.22A>G (p.Thr8Ala)
|
rs730880390
|
|
|
NM_005159.5(ACTC1):c.244G>A (p.Asp82Asn)
|
|
|
|
NM_005159.5(ACTC1):c.281A>G (p.Asn94Ser)
|
rs767734253
|
|
|
NM_005159.5(ACTC1):c.286C>T (p.Leu96Phe)
|
|
|
|
NM_005159.5(ACTC1):c.290G>A (p.Arg97His)
|
|
|
|
NM_005159.5(ACTC1):c.293T>C (p.Val98Ala)
|
rs1555418891
|
|
|
NM_005159.5(ACTC1):c.296C>T (p.Ala99Val)
|
|
|
|
NM_005159.5(ACTC1):c.298C>A (p.Pro100Thr)
|
|
|
|
NM_005159.5(ACTC1):c.2T>C (p.Met1Thr)
|
rs781220417
|
|
|
NM_005159.5(ACTC1):c.302A>T (p.Glu101Val)
|
rs1891748027
|
|
|
NM_005159.5(ACTC1):c.309C>A (p.His103Gln)
|
rs769303249
|
|
|
NM_005159.5(ACTC1):c.310C>T (p.Pro104Ser)
|
rs397517059
|
|
|
NM_005159.5(ACTC1):c.312del (p.Thr105fs)
|
rs1891747424
|
|
|
NM_005159.5(ACTC1):c.314C>T (p.Thr105Ile)
|
|
|
|
NM_005159.5(ACTC1):c.31G>C (p.Val11Leu)
|
|
|
|
NM_005159.5(ACTC1):c.329C>T (p.Ala110Val)
|
|
|
|
NM_005159.5(ACTC1):c.332del (p.Pro111fs)
|
rs1891747102
|
|
|
NM_005159.5(ACTC1):c.337A>C (p.Asn113His)
|
|
|
|
NM_005159.5(ACTC1):c.337A>T (p.Asn113Tyr)
|
|
|
|
NM_005159.5(ACTC1):c.362T>C (p.Met121Thr)
|
rs1891746619
|
|
|
NM_005159.5(ACTC1):c.365C>T (p.Thr122Ile)
|
|
|
|
NM_005159.5(ACTC1):c.372C>G (p.Ile124Met)
|
rs397517061
|
|
|
NM_005159.5(ACTC1):c.374T>C (p.Met125Thr)
|
rs1595761344
|
|
|
NM_005159.5(ACTC1):c.375G>C (p.Met125Ile)
|
rs1595761338
|
|
|
NM_005159.5(ACTC1):c.376T>A (p.Phe126Ile)
|
|
|
|
NM_005159.5(ACTC1):c.382A>G (p.Thr128Ala)
|
rs1595761333
|
|
|
NM_005159.5(ACTC1):c.383C>A (p.Thr128Asn)
|
rs727504308
|
|
|
NM_005159.5(ACTC1):c.383C>T (p.Thr128Ile)
|
rs727504308
|
|
|
NM_005159.5(ACTC1):c.389A>G (p.Asn130Ser)
|
rs1595761325
|
|
|
NM_005159.5(ACTC1):c.397G>A (p.Ala133Thr)
|
rs1566967697
|
|
|
NM_005159.5(ACTC1):c.397G>C (p.Ala133Pro)
|
rs1566967697
|
|
|
NM_005159.5(ACTC1):c.398C>T (p.Ala133Val)
|
rs1257864393
|
|
|
NM_005159.5(ACTC1):c.409G>A (p.Ala137Thr)
|
rs1891745022
|
|
|
NM_005159.5(ACTC1):c.40A>G (p.Asn14Asp)
|
|
|
|
NM_005159.5(ACTC1):c.410C>T (p.Ala137Val)
|
rs2140431775
|
|
|
NM_005159.5(ACTC1):c.421G>C (p.Val141Leu)
|
|
|
|
NM_005159.5(ACTC1):c.424C>G (p.Leu142Val)
|
|
|
|
NM_005159.5(ACTC1):c.43G>C (p.Gly15Arg)
|
|
|
|
NM_005159.5(ACTC1):c.440C>G (p.Ser147Cys)
|
|
|
|
NM_005159.5(ACTC1):c.441del (p.Gly148fs)
|
|
|
|
NM_005159.5(ACTC1):c.451A>G (p.Thr151Ala)
|
|
|
|
NM_005159.5(ACTC1):c.452C>T (p.Thr151Ile)
|
|
|
|
NM_005159.5(ACTC1):c.454G>A (p.Gly152Ser)
|
rs1247069535
|
|
|
NM_005159.5(ACTC1):c.455G>T (p.Gly152Val)
|
|
|
|
NM_005159.5(ACTC1):c.458T>C (p.Ile153Thr)
|
rs1555418843
|
|
|
NM_005159.5(ACTC1):c.473G>A (p.Gly158Glu)
|
rs2140431025
|
|
|
NM_005159.5(ACTC1):c.477T>G (p.Asp159Glu)
|
rs886039144
|
|
|
NM_005159.5(ACTC1):c.481G>A (p.Val161Ile)
|
|
|
|
NM_005159.5(ACTC1):c.482T>C (p.Val161Ala)
|
rs1060502824
|
|
|
NM_005159.5(ACTC1):c.485C>T (p.Thr162Ile)
|
rs1379875828
|
|
|
NM_005159.5(ACTC1):c.493G>A (p.Val165Ile)
|
rs2140431000
|
|
|
NM_005159.5(ACTC1):c.496C>T (p.Pro166Ser)
|
rs267606628
|
|
|
NM_005159.5(ACTC1):c.500T>C (p.Ile167Thr)
|
rs730880409
|
|
|
NM_005159.5(ACTC1):c.500T>G (p.Ile167Ser)
|
rs730880409
|
|
|
NM_005159.5(ACTC1):c.501C>G (p.Ile167Met)
|
rs1306504752
|
|
|
NM_005159.5(ACTC1):c.507G>A (p.Glu169=)
|
rs1555418837
|
|
|
NM_005159.5(ACTC1):c.520C>A (p.Pro174Thr)
|
|
|
|
NM_005159.5(ACTC1):c.523dup (p.His175fs)
|
rs730880389
|
|
|
NM_005159.5(ACTC1):c.524A>C (p.His175Pro)
|
rs1566967487
|
|
|
NM_005159.5(ACTC1):c.527C>T (p.Ala176Val)
|
rs2140430933
|
|
|
NM_005159.5(ACTC1):c.529A>G (p.Ile177Val)
|
rs730880392
|
|
|
NM_005159.5(ACTC1):c.529A>T (p.Ile177Phe)
|
|
|
|
NM_005159.5(ACTC1):c.52C>A (p.Leu18Met)
|
|
|
|
NM_005159.5(ACTC1):c.532A>T (p.Met178Leu)
|
rs1555418829
|
|
|
NM_005159.5(ACTC1):c.541G>A (p.Asp181Asn)
|
|
|
|
NM_005159.5(ACTC1):c.541G>C (p.Asp181His)
|
rs730880393
|
|
|
NM_005159.5(ACTC1):c.544C>A (p.Leu182Met)
|
|
|
|
NM_005159.5(ACTC1):c.554G>A (p.Arg185Gln)
|
|
|
|
NM_005159.5(ACTC1):c.556del (p.Asp186fs)
|
|
|
|
NM_005159.5(ACTC1):c.562A>G (p.Thr188Ala)
|
rs1555418824
|
|
|
NM_005159.5(ACTC1):c.563C>T (p.Thr188Ile)
|
rs730880394
|
|
|
NM_005159.5(ACTC1):c.565G>C (p.Asp189His)
|
|
|
|
NM_005159.5(ACTC1):c.566A>C (p.Asp189Ala)
|
rs2140430890
|
|
|
NM_005159.5(ACTC1):c.574A>G (p.Met192Val)
|
rs1555418823
|
|
|
NM_005159.5(ACTC1):c.578A>G (p.Lys193Arg)
|
|
|
|
NM_005159.5(ACTC1):c.579G>T (p.Lys193Asn)
|
rs730880395
|
|
|
NM_005159.5(ACTC1):c.583C>T (p.Leu195Phe)
|
rs1891723828
|
|
|
NM_005159.5(ACTC1):c.599_602dup (p.Phe202fs)
|
rs2140430851
|
|
|
NM_005159.5(ACTC1):c.601T>C (p.Ser201Pro)
|
rs2140430853
|
|
|
NM_005159.5(ACTC1):c.607G>A (p.Val203Ile)
|
rs1060502822
|
|
|
NM_005159.5(ACTC1):c.616+3G>A
|
|
|
|
NM_005159.5(ACTC1):c.616+4_616+7del
|
rs1891723274
|
|
|
NM_005159.5(ACTC1):c.61G>A (p.Ala21Thr)
|
|
|
|
NM_005159.5(ACTC1):c.62C>T (p.Ala21Val)
|
rs1060502823
|
|
|
NM_005159.5(ACTC1):c.634C>T (p.Arg212Cys)
|
rs1437269590
|
|
|
NM_005159.5(ACTC1):c.635G>A (p.Arg212His)
|
rs397517067
|
|
|
NM_005159.5(ACTC1):c.639C>A (p.Asp213Glu)
|
|
|
|
NM_005159.5(ACTC1):c.652C>A (p.Leu218Met)
|
rs760269526
|
|
|
NM_005159.5(ACTC1):c.659A>T (p.Tyr220Phe)
|
|
|
|
NM_005159.5(ACTC1):c.664G>A (p.Ala222Thr)
|
rs1555418793
|
|
|
NM_005159.5(ACTC1):c.671A>G (p.Asp224Gly)
|
|
|
|
NM_005159.5(ACTC1):c.67T>C (p.Phe23Leu)
|
rs193922681
|
|
|
NM_005159.5(ACTC1):c.687G>A (p.Met229Ile)
|
rs1595760799
|
|
|
NM_005159.5(ACTC1):c.689C>T (p.Ala230Val)
|
|
|
|
NM_005159.5(ACTC1):c.692C>T (p.Thr231Ile)
|
rs1060502825
|
|
|
NM_005159.5(ACTC1):c.695C>T (p.Ala232Val)
|
rs730880396
|
|
|
NM_005159.5(ACTC1):c.697G>C (p.Ala233Pro)
|
rs2140430611
|
|
|
NM_005159.5(ACTC1):c.707C>T (p.Ser236Phe)
|
rs1595760777
|
|
|
NM_005159.5(ACTC1):c.713T>C (p.Leu238Pro)
|
rs770397773
|
|
|
NM_005159.5(ACTC1):c.723C>A (p.Ser241Arg)
|
rs1566967406
|
|
|
NM_005159.5(ACTC1):c.727G>C (p.Glu243Gln)
|
rs1891718487
|
|
|
NM_005159.5(ACTC1):c.730C>A (p.Leu244Met)
|
rs2140430556
|
|
|
NM_005159.5(ACTC1):c.733C>T (p.Pro245Ser)
|
|
|
|
NM_005159.5(ACTC1):c.755T>C (p.Ile252Thr)
|
rs730880398
|
|
|
NM_005159.5(ACTC1):c.756T>G (p.Ile252Met)
|
rs371940910
|
|
|
NM_005159.5(ACTC1):c.758G>C (p.Gly253Ala)
|
|
|
|
NM_005159.5(ACTC1):c.778C>G (p.Pro260Ala)
|
|
|
|
NM_005159.5(ACTC1):c.784A>T (p.Thr262Ser)
|
rs1060502821
|
|
|
NM_005159.5(ACTC1):c.793C>G (p.Gln265Glu)
|
rs727504323
|
|
|
NM_005159.5(ACTC1):c.806T>C (p.Ile269Thr)
|
rs397517071
|
|
|
NM_005159.5(ACTC1):c.808+1G>C
|
rs730880400
|
|
|
NM_005159.5(ACTC1):c.808+3G>A
|
rs397517070
|
|
|
NM_005159.5(ACTC1):c.813G>A (p.Met271Ile)
|
rs1891698673
|
|
|
NM_005159.5(ACTC1):c.813G>T (p.Met271Ile)
|
|
|
|
NM_005159.5(ACTC1):c.82G>A (p.Ala28Thr)
|
|
|
|
NM_005159.5(ACTC1):c.83C>T (p.Ala28Val)
|
rs397517072
|
|
|
NM_005159.5(ACTC1):c.848G>C (p.Ser283Thr)
|
|
|
|
NM_005159.5(ACTC1):c.850A>T (p.Ile284Phe)
|
rs397517073
|
|
|
NM_005159.5(ACTC1):c.854T>A (p.Met285Lys)
|
rs869025354
|
|
|
NM_005159.5(ACTC1):c.854T>G (p.Met285Arg)
|
|
|
|
NM_005159.5(ACTC1):c.856A>G (p.Lys286Glu)
|
|
|
|
NM_005159.5(ACTC1):c.883C>A (p.Leu295Met)
|
rs2140429655
|
|
|
NM_005159.5(ACTC1):c.884T>A (p.Leu295Gln)
|
rs1891697323
|
|
|
NM_005159.5(ACTC1):c.886T>A (p.Tyr296Asn)
|
rs730880402
|
|
|
NM_005159.5(ACTC1):c.892A>G (p.Asn298Asp)
|
rs1595760259
|
|
|
NM_005159.5(ACTC1):c.905C>A (p.Ser302Tyr)
|
|
|
|
NM_005159.5(ACTC1):c.908G>T (p.Gly303Val)
|
rs1057518530
|
|
|
NM_005159.5(ACTC1):c.911G>A (p.Gly304Asp)
|
rs1891696834
|
|
|
NM_005159.5(ACTC1):c.914C>T (p.Thr305Ile)
|
rs1891696768
|
|
|
NM_005159.5(ACTC1):c.922T>C (p.Tyr308His)
|
rs1566967093
|
|
|
NM_005159.5(ACTC1):c.92C>T (p.Ala31Val)
|
|
|
|
NM_005159.5(ACTC1):c.934_935delinsT (p.Ala312fs)
|
rs1595760229
|
|
|
NM_005159.5(ACTC1):c.94G>A (p.Val32Ile)
|
rs1555419003
|
|
|
NM_005159.5(ACTC1):c.94G>C (p.Val32Leu)
|
|
|
|
NM_005159.5(ACTC1):c.950A>G (p.Lys317Arg)
|
|
|
|
NM_005159.5(ACTC1):c.957_959dup (p.Thr320dup)
|
rs1595760207
|
|
|
NM_005159.5(ACTC1):c.959C>T (p.Thr320Ile)
|
rs1891695680
|
|
|
NM_005159.5(ACTC1):c.962C>T (p.Ala321Val)
|
|
|
|
NM_005159.5(ACTC1):c.964C>G (p.Leu322Val)
|
rs1891695577
|
|
|
NM_005159.5(ACTC1):c.967G>C (p.Ala323Pro)
|
rs771011464
|
|
|
NM_005159.5(ACTC1):c.968C>T (p.Ala323Val)
|
rs730880404
|
|
|
NM_005159.5(ACTC1):c.970_973del (p.Pro324fs)
|
|
|
|
NM_005159.5(ACTC1):c.973A>G (p.Ser325Gly)
|
rs1555418679
|
|
|
NM_005159.5(ACTC1):c.986T>C (p.Ile329Thr)
|
rs730880410
|
|
|
NM_005159.5(ACTC1):c.990+14_990+15insAAAGAACTTTTGGGGGGAGGAGCCAAGATGGCCGAATAGGAACAGCTCCGGTCTACAGCTCCCAGCGTGAGCGACGCAGAAGACGGTGATTTCTGCATTTCCATCTGAGGTACCNNNNNNNNNNAAAAAAAAAAAAAAAAA
|
rs2140429486
|
|
|
NM_005159.5(ACTC1):c.990+6G>A
|
rs749154513
|
|
|
NM_005159.5(ACTC1):c.990+6G>C
|
|
|
|
NM_005159.5(ACTC1):c.990G>A (p.Lys330=)
|
|
|
|
NM_005159.5(ACTC1):c.991-2del
|
|
|
|
NM_005159.5(ACTC1):c.991A>G (p.Ile331Val)
|
rs730880405
|
|
|
NM_005159.5(ACTC1):c.998C>T (p.Ala333Val)
|
rs730880406
|
|
|
NM_005343.4(HRAS):c.101C>T (p.Pro34Leu)
|
rs2133994210
|
|
|
NM_005343.4(HRAS):c.103A>G (p.Thr35Ala)
|
rs2133994194
|
|
|
NM_005343.4(HRAS):c.106A>G (p.Ile36Val)
|
rs1060502663
|
|
|
NM_005343.4(HRAS):c.107T>C (p.Ile36Thr)
|
rs775056058
|
|
|
NM_005343.4(HRAS):c.108dup (p.Glu37fs)
|
rs2133994149
|
|
|
NM_005343.4(HRAS):c.110_111+5del
|
rs1564790048
|
|
|
NM_005343.4(HRAS):c.112-10C>A
|
rs727503092
|
|
|
NM_005343.4(HRAS):c.112-11T>A
|
|
|
|
NM_005343.4(HRAS):c.115T>A (p.Ser39Thr)
|
rs2133991854
|
|
|
NM_005343.4(HRAS):c.11A>C (p.Tyr4Ser)
|
rs764622691
|
|
|
NM_005343.4(HRAS):c.122G>A (p.Arg41Gln)
|
|
|
|
NM_005343.4(HRAS):c.122G>C (p.Arg41Pro)
|
|
|
|
NM_005343.4(HRAS):c.127C>T (p.Gln43Ter)
|
rs2133991697
|
|
|
NM_005343.4(HRAS):c.129G>C (p.Gln43His)
|
|
|
|
NM_005343.4(HRAS):c.131T>C (p.Val44Ala)
|
|
|
|
NM_005343.4(HRAS):c.133G>A (p.Val45Ile)
|
rs1564789708
|
|
|
NM_005343.4(HRAS):c.134T>A (p.Val45Asp)
|
rs1028352031
|
|
|
NM_005343.4(HRAS):c.136A>G (p.Ile46Val)
|
rs2133991578
|
|
|
NM_005343.4(HRAS):c.137T>C (p.Ile46Thr)
|
rs1564789700
|
|
|
NM_005343.4(HRAS):c.138T>G (p.Ile46Met)
|
rs1851286467
|
|
|
NM_005343.4(HRAS):c.145G>A (p.Glu49Lys)
|
rs1277340795
|
|
|
NM_005343.4(HRAS):c.145G>C (p.Glu49Gln)
|
rs1277340795
|
|
|
NM_005343.4(HRAS):c.146A>G (p.Glu49Gly)
|
|
|
|
NM_005343.4(HRAS):c.151T>C (p.Cys51Arg)
|
|
|
|
NM_005343.4(HRAS):c.158T>A (p.Leu53Ter)
|
|
|
|
NM_005343.4(HRAS):c.158T>G (p.Leu53Trp)
|
|
|
|
NM_005343.4(HRAS):c.16_24del (p.Leu6_Val8del)
|
|
|
|
NM_005343.4(HRAS):c.174_192del (p.Gly60fs)
|
rs878854757
|
|
|
NM_005343.4(HRAS):c.175G>A (p.Ala59Thr)
|
rs727503093
|
|
|
NM_005343.4(HRAS):c.175G>T (p.Ala59Ser)
|
rs727503093
|
|
|
NM_005343.4(HRAS):c.177_433dup (p.Glu98Ter)
|
|
|
|
NM_005343.4(HRAS):c.178G>C (p.Gly60Arg)
|
|
|
|
NM_005343.4(HRAS):c.17TGG[3] (p.Val9del)
|
rs1164486792
|
|
|
NM_005343.4(HRAS):c.182A>T (p.Gln61Leu)
|
rs121913233
|
|
|
NM_005343.4(HRAS):c.189G>C (p.Glu63Asp)
|
|
|
|
NM_005343.4(HRAS):c.191dup (p.Tyr64Ter)
|
|
|
|
NM_005343.4(HRAS):c.194G>A (p.Ser65Asn)
|
|
|
|
NM_005343.4(HRAS):c.197C>T (p.Ala66Val)
|
|
|
|
NM_005343.4(HRAS):c.19G>T (p.Val7Leu)
|
|
|
|
NM_005343.4(HRAS):c.201G>A (p.Met67Ile)
|
|
|
|
NM_005343.4(HRAS):c.202C>G (p.Arg68Gly)
|
rs1370690781
|
|
|
NM_005343.4(HRAS):c.202C>T (p.Arg68Trp)
|
rs1370690781
|
|
|
NM_005343.4(HRAS):c.203G>A (p.Arg68Gln)
|
rs730880461
|
|
|
NM_005343.4(HRAS):c.203G>T (p.Arg68Leu)
|
rs730880461
|
|
|
NM_005343.4(HRAS):c.211T>C (p.Tyr71His)
|
rs2133990650
|
|
|
NM_005343.4(HRAS):c.215T>C (p.Met72Thr)
|
|
|
|
NM_005343.4(HRAS):c.217C>T (p.Arg73Cys)
|
|
|
|
NM_005343.4(HRAS):c.218G>A (p.Arg73His)
|
|
|
|
NM_005343.4(HRAS):c.220A>G (p.Thr74Ala)
|
|
|
|
NM_005343.4(HRAS):c.221C>G (p.Thr74Ser)
|
|
|
|
NM_005343.4(HRAS):c.230G>A (p.Gly77Asp)
|
|
|
|
NM_005343.4(HRAS):c.236T>A (p.Leu79Gln)
|
rs1851275137
|
|
|
NM_005343.4(HRAS):c.238T>A (p.Cys80Ser)
|
rs1370566417
|
|
|
NM_005343.4(HRAS):c.245T>C (p.Phe82Ser)
|
rs1851274209
|
|
|
NM_005343.4(HRAS):c.245T>G (p.Phe82Cys)
|
rs1851274209
|
|
|
NM_005343.4(HRAS):c.247G>A (p.Ala83Thr)
|
|
|
|
NM_005343.4(HRAS):c.250A>G (p.Ile84Val)
|
|
|
|
NM_005343.4(HRAS):c.253A>G (p.Asn85Asp)
|
|
|
|
NM_005343.4(HRAS):c.25dup (p.Val9fs)
|
|
|
|
NM_005343.4(HRAS):c.260C>A (p.Thr87Asn)
|
rs1851272986
|
|
|
NM_005343.4(HRAS):c.260C>T (p.Thr87Ile)
|
rs1851272986
|
|
|
NM_005343.4(HRAS):c.262A>G (p.Lys88Glu)
|
|
|
|
NM_005343.4(HRAS):c.263A>G (p.Lys88Arg)
|
rs1851272638
|
|
|
NM_005343.4(HRAS):c.269T>C (p.Phe90Ser)
|
rs1589792507
|
|
|
NM_005343.4(HRAS):c.270dup (p.Glu91Ter)
|
rs1851272209
|
|
|
NM_005343.4(HRAS):c.274G>A (p.Asp92Asn)
|
rs1851271948
|
|
|
NM_005343.4(HRAS):c.275A>C (p.Asp92Ala)
|
rs1589792495
|
|
|
NM_005343.4(HRAS):c.282C>G (p.His94Gln)
|
rs375893752
|
|
|
NM_005343.4(HRAS):c.285G>C (p.Gln95His)
|
rs925794740
|
|
|
NM_005343.4(HRAS):c.290+3G>A
|
|
|
|
NM_005343.4(HRAS):c.290+3G>T
|
|
|
|
NM_005343.4(HRAS):c.290+6C>A
|
rs878854758
|
|
|
NM_005343.4(HRAS):c.290+9C>G
|
rs747854581
|
|
|
NM_005343.4(HRAS):c.291-3C>T
|
rs1851251687
|
|
|
NM_005343.4(HRAS):c.292G>A (p.Glu98Lys)
|
rs751137946
|
|
|
NM_005343.4(HRAS):c.294G>A (p.Glu98=)
|
|
|
|
NM_005343.4(HRAS):c.295C>G (p.Gln99Glu)
|
rs1851251123
|
|
|
NM_005343.4(HRAS):c.295C>T (p.Gln99Ter)
|
|
|
|
NM_005343.4(HRAS):c.305G>A (p.Arg102Gln)
|
|
|
|
NM_005343.4(HRAS):c.307G>C (p.Val103Leu)
|
rs1213269684
|
|
|
NM_005343.4(HRAS):c.313G>A (p.Asp105Asn)
|
rs1274939921
|
|
|
NM_005343.4(HRAS):c.313G>C (p.Asp105His)
|
|
|
|
NM_005343.4(HRAS):c.317C>G (p.Ser106Trp)
|
rs730880462
|
|
|
NM_005343.4(HRAS):c.319G>A (p.Asp107Asn)
|
|
|
|
NM_005343.4(HRAS):c.323A>G (p.Asp108Gly)
|
|
|
|
NM_005343.4(HRAS):c.325G>A (p.Val109Met)
|
rs1342261234
|
|
|
NM_005343.4(HRAS):c.325G>T (p.Val109Leu)
|
|
|
|
NM_005343.4(HRAS):c.331A>G (p.Met111Val)
|
rs771447288
|
|
|
NM_005343.4(HRAS):c.331A>T (p.Met111Leu)
|
|
|
|
NM_005343.4(HRAS):c.332T>C (p.Met111Thr)
|
rs1564789063
|
|
|
NM_005343.4(HRAS):c.343G>A (p.Gly115Arg)
|
|
|
|
NM_005343.4(HRAS):c.347A>G (p.Asn116Ser)
|
|
|
|
NM_005343.4(HRAS):c.358C>G (p.Leu120Val)
|
rs397517139
|
|
|
NM_005343.4(HRAS):c.361G>A (p.Ala121Thr)
|
rs1851245429
|
|
|
NM_005343.4(HRAS):c.362C>A (p.Ala121Asp)
|
rs376667492
|
|
|
NM_005343.4(HRAS):c.362C>T (p.Ala121Val)
|
rs376667492
|
|
|
NM_005343.4(HRAS):c.364G>A (p.Ala122Thr)
|
rs1851244921
|
|
|
NM_005343.4(HRAS):c.367C>G (p.Arg123Gly)
|
rs369106578
|
|
|
NM_005343.4(HRAS):c.368G>A (p.Arg123His)
|
rs730880464
|
|
|
NM_005343.4(HRAS):c.370A>G (p.Thr124Ala)
|
rs1851243906
|
|
|
NM_005343.4(HRAS):c.373del (p.Val125fs)
|
|
|
|
NM_005343.4(HRAS):c.374T>C (p.Val125Ala)
|
|
|
|
NM_005343.4(HRAS):c.374T>G (p.Val125Gly)
|
|
|
|
NM_005343.4(HRAS):c.376G>T (p.Glu126Ter)
|
|
|
|
NM_005343.4(HRAS):c.379T>C (p.Ser127Pro)
|
rs1221709596
|
|
|
NM_005343.4(HRAS):c.383G>A (p.Arg128Gln)
|
rs1554884794
|
|
|
NM_005343.4(HRAS):c.383G>T (p.Arg128Leu)
|
rs1554884794
|
|
|
NM_005343.4(HRAS):c.388G>C (p.Ala130Pro)
|
rs1564788957
|
|
|
NM_005343.4(HRAS):c.391C>G (p.Gln131Glu)
|
rs376688893
|
|
|
NM_005343.4(HRAS):c.395A>G (p.Asp132Gly)
|
|
|
|
NM_005343.4(HRAS):c.401C>T (p.Ala134Val)
|
rs397517141
|
|
|
NM_005343.4(HRAS):c.401_402insAAGACCTCGC (p.Ser136fs)
|
|
|
|
NM_005343.4(HRAS):c.403C>T (p.Arg135Ter)
|
|
|
|
NM_005343.4(HRAS):c.404G>A (p.Arg135Gln)
|
rs1473091760
|
|
|
NM_005343.4(HRAS):c.406A>G (p.Ser136Gly)
|
|
|
|
NM_005343.4(HRAS):c.407G>C (p.Ser136Thr)
|
|
|
|
NM_005343.4(HRAS):c.412G>C (p.Gly138Arg)
|
|
|
|
NM_005343.4(HRAS):c.412_431del (p.Gly138fs)
|
rs1851237302
|
|
|
NM_005343.4(HRAS):c.413G>A (p.Gly138Asp)
|
rs1554884772
|
|
|
NM_005343.4(HRAS):c.413G>T (p.Gly138Val)
|
rs1554884772
|
|
|
NM_005343.4(HRAS):c.414C>T (p.Gly138=)
|
rs2133986610
|
|
|
NM_005343.4(HRAS):c.415A>T (p.Ile139Phe)
|
rs2133986598
|
|
|
NM_005343.4(HRAS):c.419C>T (p.Pro140Leu)
|
rs745637518
|
|
|
NM_005343.4(HRAS):c.41T>G (p.Val14Gly)
|
rs1589793707
|
|
|
NM_005343.4(HRAS):c.424A>C (p.Ile142Leu)
|
rs1564788848
|
|
|
NM_005343.4(HRAS):c.424A>G (p.Ile142Val)
|
rs1564788848
|
|
|
NM_005343.4(HRAS):c.424A>T (p.Ile142Phe)
|
|
|
|
NM_005343.4(HRAS):c.424_426del (p.Ile142del)
|
|
|
|
NM_005343.4(HRAS):c.425T>C (p.Ile142Thr)
|
rs2133986466
|
|
|
NM_005343.4(HRAS):c.426C>A (p.Ile142=)
|
rs533567288
|
|
|
NM_005343.4(HRAS):c.426C>G (p.Ile142Met)
|
rs533567288
|
|
|
NM_005343.4(HRAS):c.427G>A (p.Glu143Lys)
|
rs909222512
|
|
|
NM_005343.4(HRAS):c.427G>C (p.Glu143Gln)
|
rs909222512
|
|
|
NM_005343.4(HRAS):c.429G>C (p.Glu143Asp)
|
rs1226399807
|
|
|
NM_005343.4(HRAS):c.440_450+16del
|
|
|
|
NM_005343.4(HRAS):c.443C>G (p.Thr148Ser)
|
|
|
|
NM_005343.4(HRAS):c.445C>A (p.Arg149=)
|
|
|
|
NM_005343.4(HRAS):c.445C>T (p.Arg149Trp)
|
rs1554884750
|
|
|
NM_005343.4(HRAS):c.445del (p.Arg149fs)
|
rs2133986181
|
|
|
NM_005343.4(HRAS):c.446G>A (p.Arg149Gln)
|
|
|
|
NM_005343.4(HRAS):c.44G>C (p.Gly15Ala)
|
rs1554885139
|
|
|
NM_005343.4(HRAS):c.44G>T (p.Gly15Val)
|
|
|
|
NM_005343.4(HRAS):c.450+4A>C
|
|
|
|
NM_005343.4(HRAS):c.451-6T>G
|
rs1480423930
|
|
|
NM_005343.4(HRAS):c.451G>A (p.Gly151Arg)
|
|
|
|
NM_005343.4(HRAS):c.451G>C (p.Gly151Arg)
|
|
|
|
NM_005343.4(HRAS):c.452G>C (p.Gly151Ala)
|
rs1362209698
|
|
|
NM_005343.4(HRAS):c.457G>T (p.Glu153Ter)
|
|
|
|
NM_005343.4(HRAS):c.463G>T (p.Ala155Ser)
|
rs1171537215
|
|
|
NM_005343.4(HRAS):c.464C>T (p.Ala155Val)
|
rs1269551105
|
|
|
NM_005343.4(HRAS):c.469T>C (p.Tyr157His)
|
rs1851182643
|
|
|
NM_005343.4(HRAS):c.473C>A (p.Thr158Lys)
|
|
|
|
NM_005343.4(HRAS):c.473C>G (p.Thr158Arg)
|
|
|
|
NM_005343.4(HRAS):c.473C>T (p.Thr158Met)
|
rs587778400
|
|
|
NM_005343.4(HRAS):c.473_475delinsG (p.Thr158fs)
|
|
|
|
NM_005343.4(HRAS):c.476T>C (p.Leu159Ser)
|
rs2133982455
|
|
|
NM_005343.4(HRAS):c.477G>T (p.Leu159Phe)
|
|
|
|
NM_005343.4(HRAS):c.479T>C (p.Val160Ala)
|
rs1851181776
|
|
|
NM_005343.4(HRAS):c.479T>G (p.Val160Gly)
|
|
|
|
NM_005343.4(HRAS):c.481C>T (p.Arg161Cys)
|
rs758956556
|
|
|
NM_005343.4(HRAS):c.482_511del (p.Arg161_Lys170del)
|
rs2133982236
|
|
|
NM_005343.4(HRAS):c.484G>A (p.Glu162Lys)
|
rs1564787942
|
|
|
NM_005343.4(HRAS):c.484G>C (p.Glu162Gln)
|
|
|
|
NM_005343.4(HRAS):c.486G>C (p.Glu162Asp)
|
|
|
|
NM_005343.4(HRAS):c.487A>T (p.Ile163Phe)
|
rs1564787934
|
|
|
NM_005343.4(HRAS):c.489C>G (p.Ile163Met)
|
|
|
|
NM_005343.4(HRAS):c.491G>C (p.Arg164Pro)
|
rs753977266
|
|
|
NM_005343.4(HRAS):c.493C>A (p.Gln165Lys)
|
|
|
|
NM_005343.4(HRAS):c.497A>G (p.His166Arg)
|
rs1851180327
|
|
|
NM_005343.4(HRAS):c.4A>G (p.Thr2Ala)
|
rs878854761
|
|
|
NM_005343.4(HRAS):c.503T>C (p.Leu168Pro)
|
rs756367459
|
|
|
NM_005343.4(HRAS):c.506G>T (p.Arg169Leu)
|
rs142218590
|
|
|
NM_005343.4(HRAS):c.511C>G (p.Leu171Val)
|
|
|
|
NM_005343.4(HRAS):c.515A>G (p.Asn172Ser)
|
rs913523409
|
|
|
NM_005343.4(HRAS):c.516C>A (p.Asn172Lys)
|
|
|
|
NM_005343.4(HRAS):c.517C>T (p.Pro173Ser)
|
rs1851178613
|
|
|
NM_005343.4(HRAS):c.518C>T (p.Pro173Leu)
|
rs1171786943
|
|
|
NM_005343.4(HRAS):c.520C>G (p.Pro174Ala)
|
|
|
|
NM_005343.4(HRAS):c.529_530del (p.Ser177fs)
|
|
|
|
NM_005343.4(HRAS):c.529_531del (p.Ser177del)
|
|
|
|
NM_005343.4(HRAS):c.530G>A (p.Ser177Asn)
|
rs1191074796
|
|
|
NM_005343.4(HRAS):c.530G>C (p.Ser177Thr)
|
|
|
|
NM_005343.4(HRAS):c.532G>A (p.Gly178Ser)
|
|
|
|
NM_005343.4(HRAS):c.532G>C (p.Gly178Arg)
|
rs1445835026
|
|
|
NM_005343.4(HRAS):c.535C>T (p.Pro179Ser)
|
rs1201430199
|
|
|
NM_005343.4(HRAS):c.538G>C (p.Gly180Arg)
|
|
|
|
NM_005343.4(HRAS):c.539G>A (p.Gly180Asp)
|
rs1851175904
|
|
|
NM_005343.4(HRAS):c.542G>A (p.Cys181Tyr)
|
rs1187682907
|
|
|
NM_005343.4(HRAS):c.543C>T (p.Cys181=)
|
rs2133982060
|
|
|
NM_005343.4(HRAS):c.544A>C (p.Met182Leu)
|
rs730880465
|
|
|
NM_005343.4(HRAS):c.544A>G (p.Met182Val)
|
rs730880465
|
|
|
NM_005343.4(HRAS):c.545T>C (p.Met182Thr)
|
rs1851174858
|
|
|
NM_005343.4(HRAS):c.548G>A (p.Ser183Asn)
|
|
|
|
NM_005343.4(HRAS):c.551G>A (p.Cys184Tyr)
|
rs2133982018
|
|
|
NM_005343.4(HRAS):c.551G>C (p.Cys184Ser)
|
rs2133982018
|
|
|
NM_005343.4(HRAS):c.552dup (p.Lys185fs)
|
rs1554884418
|
|
|
NM_005343.4(HRAS):c.559G>A (p.Val187Met)
|
|
|
|
NM_005343.4(HRAS):c.55C>A (p.Leu19Met)
|
|
|
|
NM_005343.4(HRAS):c.560T>C (p.Val187Ala)
|
rs1851173673
|
|
|
NM_005343.4(HRAS):c.565T>G (p.Ser189Ala)
|
rs1851173462
|
|
|
NM_005343.4(HRAS):c.566_568del (p.Ser189del)
|
|
|
|
NM_005343.4(HRAS):c.59C>T (p.Thr20Ile)
|
|
|
|
NM_005343.4(HRAS):c.5C>G (p.Thr2Arg)
|
rs1447218022
|
|
|
NM_005343.4(HRAS):c.5C>T (p.Thr2Met)
|
rs1447218022
|
|
|
NM_005343.4(HRAS):c.74A>G (p.Gln25Arg)
|
|
|
|
NM_005343.4(HRAS):c.88G>A (p.Asp30Asn)
|
rs1226305644
|
|
|
NM_005343.4(HRAS):c.91G>C (p.Glu31Gln)
|
|
|
|
NM_005343.4(HRAS):c.97G>A (p.Asp33Asn)
|
rs1851315835
|
|
|
NM_005343.4(HRAS):c.99C>A (p.Asp33Glu)
|
rs756934316
|
|
|
NM_005921.2(MAP3K1):c.1136C>T (p.Thr379Ile)
|
rs1747647344
|
|
|
NM_005921.2(MAP3K1):c.138G>T (p.Glu46Asp)
|
|
|
|
NM_005921.2(MAP3K1):c.13G>C (p.Ala5Pro)
|
|
|
|
NM_005921.2(MAP3K1):c.1558C>G (p.Gln520Glu)
|
rs1579768504
|
|
|
NM_005921.2(MAP3K1):c.161G>A (p.Arg54Gln)
|
|
|
|
NM_005921.2(MAP3K1):c.1631A>T (p.Tyr544Phe)
|
|
|
|
NM_005921.2(MAP3K1):c.170GGC[5] (p.Arg60dup)
|
rs746070735
|
|
|
NM_005921.2(MAP3K1):c.1913T>G (p.Val638Gly)
|
|
|
|
NM_005921.2(MAP3K1):c.1970C>G (p.Thr657Arg)
|
rs1579775153
|
|
|
NM_005921.2(MAP3K1):c.1985T>C (p.Leu662Pro)
|
|
|
|
NM_005921.2(MAP3K1):c.2022C>G (p.Ile674Met)
|
|
|
|
NM_005921.2(MAP3K1):c.2072G>A (p.Cys691Tyr)
|
rs1554035463
|
|
|
NM_005921.2(MAP3K1):c.2420A>G (p.Asn807Ser)
|
|
|
|
NM_005921.2(MAP3K1):c.2539A>G (p.Thr847Ala)
|
|
|
|
NM_005921.2(MAP3K1):c.2702C>G (p.Ser901Cys)
|
|
|
|
NM_005921.2(MAP3K1):c.2782_2784del (p.Ser928del)
|
rs1748225593
|
|
|
NM_005921.2(MAP3K1):c.2824ACA[10] (p.Thr948_Thr949dup)
|
rs5868032
|
|
|
NM_005921.2(MAP3K1):c.311G>A (p.Gly104Asp)
|
|
|
|
NM_005921.2(MAP3K1):c.3133G>C (p.Val1045Leu)
|
|
|
|
NM_005921.2(MAP3K1):c.3212G>T (p.Ser1071Ile)
|
|
|
|
NM_005921.2(MAP3K1):c.3275A>G (p.Asp1092Gly)
|
|
|
|
NM_005921.2(MAP3K1):c.331C>T (p.Pro111Ser)
|
|
|
|
NM_005921.2(MAP3K1):c.3416C>T (p.Ser1139Phe)
|
|
|
|
NM_005921.2(MAP3K1):c.3608C>G (p.Pro1203Arg)
|
|
|
|
NM_005921.2(MAP3K1):c.361G>A (p.Gly121Ser)
|
|
|
|
NM_005921.2(MAP3K1):c.3743A>G (p.Gln1248Arg)
|
|
|
|
NM_005921.2(MAP3K1):c.4318A>G (p.Ile1440Val)
|
|
|
|
NM_005921.2(MAP3K1):c.4327G>A (p.Ala1443Thr)
|
rs559360433
|
|
|
NM_005921.2(MAP3K1):c.4415C>T (p.Ser1472Leu)
|
rs776167103
|
|
|
NM_005921.2(MAP3K1):c.4445G>A (p.Arg1482Gln)
|
|
|
|
NM_005921.2(MAP3K1):c.458C>T (p.Pro153Leu)
|
rs576080629
|
|
|
NM_005921.2(MAP3K1):c.499A>G (p.Lys167Glu)
|
|
|
|
NM_005921.2(MAP3K1):c.536G>A (p.Arg179His)
|
|
|
|
NM_005921.2(MAP3K1):c.5CGG[6] (p.Ala5_Gly6insAlaAla)
|
|
|
|
NM_005921.2(MAP3K1):c.86G>A (p.Gly29Glu)
|
rs1581198964
|
|
|
NM_006073.4(TRDN):c.1006A>G (p.Lys336Glu)
|
|
|
|
NM_006073.4(TRDN):c.1034T>C (p.Ile345Thr)
|
rs1459890032
|
|
|
NM_006073.4(TRDN):c.1042G>C (p.Glu348Gln)
|
|
|
|
NM_006073.4(TRDN):c.1051+1G>A
|
rs535908547
|
|
|
NM_006073.4(TRDN):c.1051+1G>T
|
rs535908547
|
|
|
NM_006073.4(TRDN):c.1051+3A>T
|
rs2114593121
|
|
|
NM_006073.4(TRDN):c.1051+6G>T
|
|
|
|
NM_006073.4(TRDN):c.1052-9C>A
|
rs765883002
|
|
|
NM_006073.4(TRDN):c.1055C>A (p.Pro352Gln)
|
rs754708708
|
|
|
NM_006073.4(TRDN):c.1055C>T (p.Pro352Leu)
|
rs754708708
|
|
|
NM_006073.4(TRDN):c.1058G>A (p.Gly353Glu)
|
rs1230466120
|
|
|
NM_006073.4(TRDN):c.1087G>A (p.Val363Ile)
|
|
|
|
NM_006073.4(TRDN):c.1098_1099inv (p.Ala367Ser)
|
|
|
|
NM_006073.4(TRDN):c.1105+1del
|
rs1772598763
|
|
|
NM_006073.4(TRDN):c.1105G>T (p.Ala369Ser)
|
rs369198088
|
|
|
NM_006073.4(TRDN):c.1132G>A (p.Glu378Lys)
|
rs1330602239
|
|
|
NM_006073.4(TRDN):c.1133A>G (p.Glu378Gly)
|
rs2114443570
|
|
|
NM_006073.4(TRDN):c.1136-2_1136-1delinsTA
|
|
|
|
NM_006073.4(TRDN):c.1144A>G (p.Lys382Glu)
|
rs1781747004
|
|
|
NM_006073.4(TRDN):c.1150A>G (p.Lys384Glu)
|
rs1159691201
|
|
|
NM_006073.4(TRDN):c.1166-1G>A
|
rs1298986609
|
|
|
NM_006073.4(TRDN):c.1175C>T (p.Pro392Leu)
|
rs1364039811
|
|
|
NM_006073.4(TRDN):c.1188A>C (p.Lys396Asn)
|
rs6901953
|
|
|
NM_006073.4(TRDN):c.119T>C (p.Ile40Thr)
|
|
|
|
NM_006073.4(TRDN):c.1208A>C (p.His403Pro)
|
|
|
|
NM_006073.4(TRDN):c.1218A>T (p.Pro406=)
|
|
|
|
NM_006073.4(TRDN):c.1223A>C (p.Lys408Thr)
|
rs2114402336
|
|
|
NM_006073.4(TRDN):c.1229C>A (p.Pro410Gln)
|
|
|
|
NM_006073.4(TRDN):c.1257C>G (p.Asp419Glu)
|
rs17737379
|
|
|
NM_006073.4(TRDN):c.1259A>G (p.Lys420Arg)
|
|
|
|
NM_006073.4(TRDN):c.1273+5G>A
|
|
|
|
NM_006073.4(TRDN):c.1274-8A>G
|
|
|
|
NM_006073.4(TRDN):c.1276A>G (p.Thr426Ala)
|
rs1040336692
|
|
|
NM_006073.4(TRDN):c.1292_1293del (p.Glu431fs)
|
rs1582923790
|
|
|
NM_006073.4(TRDN):c.1300_1308del (p.Gly434_Val436del)
|
rs765757457
|
|
|
NM_006073.4(TRDN):c.1301G>C (p.Gly434Ala)
|
rs2114357967
|
|
|
NM_006073.4(TRDN):c.1304C>A (p.Ala435Glu)
|
rs370712881
|
|
|
NM_006073.4(TRDN):c.1304C>T (p.Ala435Val)
|
rs370712881
|
|
|
NM_006073.4(TRDN):c.1313_1314delinsGC (p.Ile438Ser)
|
rs1562280050
|
|
|
NM_006073.4(TRDN):c.1321+1G>T
|
|
|
|
NM_006073.4(TRDN):c.1321+1del
|
rs754982716
|
|
|
NM_006073.4(TRDN):c.1328C>T (p.Pro443Leu)
|
rs2114299923
|
|
|
NM_006073.4(TRDN):c.1340A>G (p.Glu447Gly)
|
rs1488176228
|
|
|
NM_006073.4(TRDN):c.1369+2del
|
|
|
|
NM_006073.4(TRDN):c.1370-11_1370-10delinsAC
|
rs1060502113
|
|
|
NM_006073.4(TRDN):c.1370-15T>A
|
|
|
|
NM_006073.4(TRDN):c.1370A>G (p.Glu457Gly)
|
rs1275202498
|
|
|
NM_006073.4(TRDN):c.1373T>C (p.Ile458Thr)
|
rs1216864060
|
|
|
NM_006073.4(TRDN):c.1375A>T (p.Arg459Ter)
|
rs1562267979
|
|
|
NM_006073.4(TRDN):c.1405A>G (p.Ile469Val)
|
|
|
|
NM_006073.4(TRDN):c.1416T>G (p.Asp472Glu)
|
rs1464407707
|
|
|
NM_006073.4(TRDN):c.1426A>G (p.Ile476Val)
|
|
|
|
NM_006073.4(TRDN):c.1427T>C (p.Ile476Thr)
|
rs1582882357
|
|
|
NM_006073.4(TRDN):c.1443G>C (p.Glu481Asp)
|
rs2114727152
|
|
|
NM_006073.4(TRDN):c.1454C>T (p.Ala485Val)
|
rs1001289198
|
|
|
NM_006073.4(TRDN):c.145G>C (p.Ala49Pro)
|
rs1583264660
|
|
|
NM_006073.4(TRDN):c.1471G>C (p.Glu491Gln)
|
|
|
|
NM_006073.4(TRDN):c.1488del (p.Asp497fs)
|
|
|
|
NM_006073.4(TRDN):c.1492G>T (p.Glu498Ter)
|
rs1779027425
|
|
|
NM_006073.4(TRDN):c.1499T>C (p.Met500Thr)
|
rs1233338907
|
|
|
NM_006073.4(TRDN):c.1510+1G>C
|
|
|
|
NM_006073.4(TRDN):c.1510+5G>A
|
rs1779025821
|
|
|
NM_006073.4(TRDN):c.1526C>G (p.Pro509Arg)
|
rs1060502115
|
|
|
NM_006073.4(TRDN):c.1534C>T (p.Pro512Ser)
|
|
|
|
NM_006073.4(TRDN):c.1537C>T (p.Gln513Ter)
|
rs757355311
|
|
|
NM_006073.4(TRDN):c.1538-7T>G
|
rs1777452285
|
|
|
NM_006073.4(TRDN):c.1544A>G (p.Gln515Arg)
|
|
|
|
NM_006073.4(TRDN):c.1545A>C (p.Gln515His)
|
rs1232728917
|
|
|
NM_006073.4(TRDN):c.1549A>G (p.Lys517Glu)
|
rs2114626106
|
|
|
NM_006073.4(TRDN):c.1576A>G (p.Ile526Val)
|
rs375091695
|
|
|
NM_006073.4(TRDN):c.1577T>G (p.Ile526Ser)
|
rs771612991
|
|
|
NM_006073.4(TRDN):c.1579A>G (p.Lys527Glu)
|
rs1192853066
|
|
|
NM_006073.4(TRDN):c.157G>A (p.Val53Ile)
|
|
|
|
NM_006073.4(TRDN):c.1580A>G (p.Lys527Arg)
|
|
|
|
NM_006073.4(TRDN):c.1600A>G (p.Ile534Val)
|
rs1048725851
|
|
|
NM_006073.4(TRDN):c.1600_1602delinsT (p.Ile534fs)
|
rs1777268262
|
|
|
NM_006073.4(TRDN):c.161T>C (p.Ile54Thr)
|
rs1562396418
|
|
|
NM_006073.4(TRDN):c.1623C>T (p.His541=)
|
|
|
|
NM_006073.4(TRDN):c.1624+1G>C
|
rs748011906
|
|
|
NM_006073.4(TRDN):c.1624+6T>A
|
|
|
|
NM_006073.4(TRDN):c.1625-3C>A
|
|
|
|
NM_006073.4(TRDN):c.1629A>G (p.Gln543=)
|
rs2114615817
|
|
|
NM_006073.4(TRDN):c.1630G>A (p.Asp544Asn)
|
rs1777254669
|
|
|
NM_006073.4(TRDN):c.1648A>G (p.Lys550Glu)
|
rs1036032456
|
|
|
NM_006073.4(TRDN):c.164C>T (p.Ala55Val)
|
rs1333255264
|
|
|
NM_006073.4(TRDN):c.1650G>A (p.Lys550=)
|
|
|
|
NM_006073.4(TRDN):c.1661A>C (p.His554Pro)
|
rs1777253805
|
|
|
NM_006073.4(TRDN):c.1661A>G (p.His554Arg)
|
|
|
|
NM_006073.4(TRDN):c.1667A>G (p.Lys556Arg)
|
rs1554219406
|
|
|
NM_006073.4(TRDN):c.1672+3A>G
|
|
|
|
NM_006073.4(TRDN):c.1672+6T>C
|
|
|
|
NM_006073.4(TRDN):c.167T>C (p.Leu56Pro)
|
rs1060502116
|
|
|
NM_006073.4(TRDN):c.1684C>A (p.Leu562Ile)
|
rs2114612744
|
|
|
NM_006073.4(TRDN):c.1691A>C (p.Gln564Pro)
|
rs768555461
|
|
|
NM_006073.4(TRDN):c.1692G>A (p.Gln564=)
|
|
|
|
NM_006073.4(TRDN):c.1692G>C (p.Gln564His)
|
rs747107207
|
|
|
NM_006073.4(TRDN):c.1693G>A (p.Val565Ile)
|
rs565178454
|
|
|
NM_006073.4(TRDN):c.1700C>A (p.Ala567Asp)
|
rs545470302
|
|
|
NM_006073.4(TRDN):c.1717dup (p.Thr573fs)
|
|
|
|
NM_006073.4(TRDN):c.1732C>T (p.Pro578Ser)
|
|
|
|
NM_006073.4(TRDN):c.1753C>T (p.Arg585Ter)
|
rs754229275
|
|
|
NM_006073.4(TRDN):c.1762G>A (p.Glu588Lys)
|
|
|
|
NM_006073.4(TRDN):c.1768C>T (p.Pro590Ser)
|
rs2114606785
|
|
|
NM_006073.4(TRDN):c.1794del (p.Lys598fs)
|
rs1412913007
|
|
|
NM_006073.4(TRDN):c.1804+2T>C
|
rs2114598453
|
|
|
NM_006073.4(TRDN):c.1804+6T>C
|
|
|
|
NM_006073.4(TRDN):c.1804A>T (p.Lys602Ter)
|
rs2114598456
|
|
|
NM_006073.4(TRDN):c.1805-6_1805-4delinsT
|
rs1776731846
|
|
|
NM_006073.4(TRDN):c.1806del (p.Gly603fs)
|
rs1381728472
|
|
|
NM_006073.4(TRDN):c.1861G>T (p.Glu621Ter)
|
|
|
|
NM_006073.4(TRDN):c.1862A>G (p.Glu621Gly)
|
rs1211286909
|
|
|
NM_006073.4(TRDN):c.1871-2A>G
|
rs1483354092
|
|
|
NM_006073.4(TRDN):c.1871-9T>A
|
rs1489256531
|
|
|
NM_006073.4(TRDN):c.1874A>C (p.Lys625Thr)
|
rs1776539318
|
|
|
NM_006073.4(TRDN):c.1874A>G (p.Lys625Arg)
|
rs1776539318
|
|
|
NM_006073.4(TRDN):c.1875dup (p.Ala626fs)
|
rs780443277
|
|
|
NM_006073.4(TRDN):c.1881C>G (p.Asp627Glu)
|
rs1776538992
|
|
|
NM_006073.4(TRDN):c.1897G>A (p.Glu633Lys)
|
rs1776538236
|
|
|
NM_006073.4(TRDN):c.1900_1903del (p.Glu634fs)
|
rs750469686
|
|
|
NM_006073.4(TRDN):c.1906+6T>C
|
rs1562232511
|
|
|
NM_006073.4(TRDN):c.1906+6T>G
|
rs1562232511
|
|
|
NM_006073.4(TRDN):c.1907-3C>T
|
|
|
|
NM_006073.4(TRDN):c.1907-6T>G
|
|
|
|
NM_006073.4(TRDN):c.1913C>G (p.Thr638Arg)
|
rs1168548735
|
|
|
NM_006073.4(TRDN):c.1916_1918del (p.Arg639del)
|
|
|
|
NM_006073.4(TRDN):c.1921_1923del (p.Glu641del)
|
|
|
|
NM_006073.4(TRDN):c.1923_1924del (p.Leu643fs)
|
rs781420323
|
|
|
NM_006073.4(TRDN):c.1938C>A (p.His646Gln)
|
rs1582782548
|
|
|
NM_006073.4(TRDN):c.1952-1G>A
|
rs2114570771
|
|
|
NM_006073.4(TRDN):c.1966A>G (p.Arg656Gly)
|
rs1776405797
|
|
|
NM_006073.4(TRDN):c.196G>A (p.Val66Ile)
|
rs372169818
|
|
|
NM_006073.4(TRDN):c.1975+14G>C
|
|
|
|
NM_006073.4(TRDN):c.1975+4del
|
rs763953757
|
|
|
NM_006073.4(TRDN):c.1975+8C>A
|
rs754046696
|
|
|
NM_006073.4(TRDN):c.1986A>T (p.Glu662Asp)
|
|
|
|
NM_006073.4(TRDN):c.1996G>A (p.Ala666Thr)
|
rs748450167
|
|
|
NM_006073.4(TRDN):c.1996G>C (p.Ala666Pro)
|
rs748450167
|
|
|
NM_006073.4(TRDN):c.1997C>A (p.Ala666Asp)
|
rs878854816
|
|
|
NM_006073.4(TRDN):c.2011A>C (p.Lys671Gln)
|
rs2114505384
|
|
|
NM_006073.4(TRDN):c.2014+6T>G
|
rs2114505362
|
|
|
NM_006073.4(TRDN):c.2014G>A (p.Glu672Lys)
|
rs2114505372
|
|
|
NM_006073.4(TRDN):c.2015-6C>A
|
rs1244486423
|
|
|
NM_006073.4(TRDN):c.2030T>G (p.Val677Gly)
|
rs1775146927
|
|
|
NM_006073.4(TRDN):c.2050+1G>A
|
rs1295530677
|
|
|
NM_006073.4(TRDN):c.2050+2T>C
|
rs758127975
|
|
|
NM_006073.4(TRDN):c.2072G>C (p.Cys691Ser)
|
rs2114492427
|
|
|
NM_006073.4(TRDN):c.2090A>G (p.Tyr697Cys)
|
|
|
|
NM_006073.4(TRDN):c.2092A>G (p.Asn698Asp)
|
rs777779916
|
|
|
NM_006073.4(TRDN):c.2096del (p.Gly699fs)
|
rs772899515
|
|
|
NM_006073.4(TRDN):c.2108A>G (p.Gln703Arg)
|
rs1390830578
|
|
|
NM_006073.4(TRDN):c.2109G>T (p.Gln703His)
|
|
|
|
NM_006073.4(TRDN):c.211G>A (p.Val71Met)
|
|
|
|
NM_006073.4(TRDN):c.2123C>T (p.Pro708Leu)
|
|
|
|
NM_006073.4(TRDN):c.2149_2150del (p.Gly717fs)
|
|
|
|
NM_006073.4(TRDN):c.214G>A (p.Asp72Asn)
|
rs919863113
|
|
|
NM_006073.4(TRDN):c.2165C>T (p.Pro722Leu)
|
rs2114492200
|
|
|
NM_006073.4(TRDN):c.2167G>A (p.Gly723Arg)
|
rs2114492194
|
|
|
NM_006073.4(TRDN):c.2180A>G (p.Gln727Arg)
|
|
|
|
NM_006073.4(TRDN):c.2185C>G (p.Gln729Glu)
|
|
|
|
NM_006073.4(TRDN):c.226T>C (p.Phe76Leu)
|
rs1782541809
|
|
|
NM_006073.4(TRDN):c.231A>G (p.Ser77=)
|
rs2114537218
|
|
|
NM_006073.4(TRDN):c.232+6T>C
|
rs747825904
|
|
|
NM_006073.4(TRDN):c.233-11A>G
|
|
|
|
NM_006073.4(TRDN):c.245C>T (p.Ala82Val)
|
|
|
|
NM_006073.4(TRDN):c.252T>G (p.Ile84Met)
|
|
|
|
NM_006073.4(TRDN):c.274G>T (p.Val92Leu)
|
rs34808221
|
|
|
NM_006073.4(TRDN):c.277C>A (p.Arg93Ser)
|
|
|
|
NM_006073.4(TRDN):c.296C>G (p.Thr99Ser)
|
|
|
|
NM_006073.4(TRDN):c.29C>A (p.Ala10Glu)
|
|
|
|
NM_006073.4(TRDN):c.306G>T (p.Trp102Cys)
|
|
|
|
NM_006073.4(TRDN):c.307A>G (p.Ile103Val)
|
rs535845814
|
|
|
NM_006073.4(TRDN):c.337ATC[1] (p.Ile114del)
|
rs1781228259
|
|
|
NM_006073.4(TRDN):c.346T>A (p.Ser116Thr)
|
rs768047321
|
|
|
NM_006073.4(TRDN):c.346T>C (p.Ser116Pro)
|
rs768047321
|
|
|
NM_006073.4(TRDN):c.355G>A (p.Glu119Lys)
|
|
|
|
NM_006073.4(TRDN):c.356A>G (p.Glu119Gly)
|
rs2114436566
|
|
|
NM_006073.4(TRDN):c.362ATG[2] (p.Asp123del)
|
rs746889615
|
|
|
NM_006073.4(TRDN):c.391G>C (p.Gly131Arg)
|
rs1245170587
|
|
|
NM_006073.4(TRDN):c.410C>T (p.Pro137Leu)
|
rs1242484153
|
|
|
NM_006073.4(TRDN):c.416G>A (p.Arg139Lys)
|
rs1562379256
|
|
|
NM_006073.4(TRDN):c.41C>T (p.Thr14Ile)
|
rs2114538213
|
|
|
NM_006073.4(TRDN):c.425-11T>G
|
|
|
|
NM_006073.4(TRDN):c.427A>C (p.Ile143Leu)
|
|
|
|
NM_006073.4(TRDN):c.432C>G (p.His144Gln)
|
|
|
|
NM_006073.4(TRDN):c.436G>T (p.Asp146Tyr)
|
rs1780197036
|
|
|
NM_006073.4(TRDN):c.440A>G (p.Lys147Arg)
|
rs2114339102
|
|
|
NM_006073.4(TRDN):c.445G>A (p.Glu149Lys)
|
rs902398250
|
|
|
NM_006073.4(TRDN):c.44_49del (p.Thr15_Val16del)
|
rs1271763031
|
|
|
NM_006073.4(TRDN):c.484+6C>T
|
rs115773202
|
|
|
NM_006073.4(TRDN):c.488C>T (p.Thr163Ile)
|
|
|
|
NM_006073.4(TRDN):c.50T>C (p.Ile17Thr)
|
rs1583264951
|
|
|
NM_006073.4(TRDN):c.515_520del (p.Glu172_Lys173del)
|
|
|
|
NM_006073.4(TRDN):c.526GAAAAA[1] (p.176EK[1])
|
rs1319934569
|
|
|
NM_006073.4(TRDN):c.542A>C (p.Glu181Ala)
|
|
|
|
NM_006073.4(TRDN):c.542A>T (p.Glu181Val)
|
|
|
|
NM_006073.4(TRDN):c.550G>A (p.Ala184Thr)
|
rs576028226
|
|
|
NM_006073.4(TRDN):c.569T>A (p.Ile190Asn)
|
rs1205195262
|
|
|
NM_006073.4(TRDN):c.587C>A (p.Pro196Gln)
|
|
|
|
NM_006073.4(TRDN):c.587C>T (p.Pro196Leu)
|
rs1277590915
|
|
|
NM_006073.4(TRDN):c.604_610+47del
|
rs1554251571
|
|
|
NM_006073.4(TRDN):c.611A>G (p.Glu204Gly)
|
|
|
|
NM_006073.4(TRDN):c.62A>C (p.Asn21Thr)
|
|
|
|
NM_006073.4(TRDN):c.655A>G (p.Lys219Glu)
|
rs1562351485
|
|
|
NM_006073.4(TRDN):c.658A>T (p.Lys220Ter)
|
rs2114833320
|
|
|
NM_006073.4(TRDN):c.659A>G (p.Lys220Arg)
|
|
|
|
NM_006073.4(TRDN):c.670G>A (p.Gly224Ser)
|
|
|
|
NM_006073.4(TRDN):c.712A>G (p.Lys238Glu)
|
|
|
|
NM_006073.4(TRDN):c.730C>A (p.Pro244Thr)
|
rs2114833034
|
|
|
NM_006073.4(TRDN):c.742A>G (p.Lys248Glu)
|
rs2114833012
|
|
|
NM_006073.4(TRDN):c.744del (p.Glu249fs)
|
|
|
|
NM_006073.4(TRDN):c.750G>T (p.Lys250Asn)
|
rs138912040
|
|
|
NM_006073.4(TRDN):c.779A>G (p.Lys260Arg)
|
|
|
|
NM_006073.4(TRDN):c.790A>G (p.Lys264Glu)
|
rs574484615
|
|
|
NM_006073.4(TRDN):c.795T>A (p.Asp265Glu)
|
|
|
|
NM_006073.4(TRDN):c.798G>C (p.Gln266His)
|
rs1562347184
|
|
|
NM_006073.4(TRDN):c.802G>A (p.Ala268Thr)
|
rs1223374508
|
|
|
NM_006073.4(TRDN):c.803C>T (p.Ala268Val)
|
rs1465535140
|
|
|
NM_006073.4(TRDN):c.805T>G (p.Phe269Val)
|
|
|
|
NM_006073.4(TRDN):c.809G>A (p.Cys270Tyr)
|
rs1778487507
|
|
|
NM_006073.4(TRDN):c.80C>T (p.Ser27Phe)
|
rs770488451
|
|
|
NM_006073.4(TRDN):c.812G>C (p.Arg271Pro)
|
|
|
|
NM_006073.4(TRDN):c.829T>G (p.Phe277Val)
|
|
|
|
NM_006073.4(TRDN):c.832G>C (p.Val278Leu)
|
|
|
|
NM_006073.4(TRDN):c.833T>C (p.Val278Ala)
|
rs954714094
|
|
|
NM_006073.4(TRDN):c.836A>G (p.His279Arg)
|
rs1251196961
|
|
|
NM_006073.4(TRDN):c.839G>A (p.Gly280Glu)
|
rs903971281
|
|
|
NM_006073.4(TRDN):c.840G>T (p.Gly280=)
|
|
|
|
NM_006073.4(TRDN):c.842A>T (p.Asp281Val)
|
|
|
|
NM_006073.4(TRDN):c.856_890del (p.Gln286fs)
|
|
|
|
NM_006073.4(TRDN):c.865G>A (p.Ala289Thr)
|
|
|
|
NM_006073.4(TRDN):c.872C>T (p.Pro291Leu)
|
rs530972011
|
|
|
NM_006073.4(TRDN):c.874C>T (p.Pro292Ser)
|
|
|
|
NM_006073.4(TRDN):c.899C>G (p.Ser300Cys)
|
rs2114709180
|
|
|
NM_006073.4(TRDN):c.90A>T (p.Lys30Asn)
|
rs2114537932
|
|
|
NM_006073.4(TRDN):c.920C>T (p.Pro307Leu)
|
|
|
|
NM_006073.4(TRDN):c.923C>T (p.Ala308Val)
|
rs1776696081
|
|
|
NM_006073.4(TRDN):c.925C>T (p.Leu309Phe)
|
|
|
|
NM_006073.4(TRDN):c.92T>A (p.Val31Glu)
|
|
|
|
NM_006073.4(TRDN):c.946AAG[2] (p.Lys318del)
|
rs1774734616
|
|
|
NM_006073.4(TRDN):c.947A>T (p.Lys316Met)
|
|
|
|
NM_006073.4(TRDN):c.94C>A (p.Leu32Met)
|
rs755548582
|
|
|
NM_006073.4(TRDN):c.984A>T (p.Lys328Asn)
|
rs1774733806
|
|
|
NM_006073.4(TRDN):c.9G>C (p.Glu3Asp)
|
rs1185669572
|
|
|
NM_006270.5(RRAS):c.115G>T (p.Gly39Cys)
|
rs1349125359
|
|
|
NM_006270.5(RRAS):c.12_13delinsAA (p.Ala5Thr)
|
|
|
|
NM_006270.5(RRAS):c.147C>A (p.Phe49Leu)
|
rs2081014653
|
|
|
NM_006270.5(RRAS):c.153+17C>A
|
rs376005750
|
|
|
NM_006270.5(RRAS):c.182C>A (p.Thr61Asn)
|
|
|
|
NM_006270.5(RRAS):c.1A>G (p.Met1Val)
|
|
|
|
NM_006270.5(RRAS):c.1A>T (p.Met1Leu)
|
|
|
|
NM_006270.5(RRAS):c.209G>A (p.Cys70Tyr)
|
|
|
|
NM_006270.5(RRAS):c.227C>T (p.Pro76Leu)
|
rs756447228
|
|
|
NM_006270.5(RRAS):c.241+5G>A
|
rs2081000124
|
|
|
NM_006270.5(RRAS):c.241+6G>A
|
rs925991568
|
|
|
NM_006270.5(RRAS):c.241+6G>C
|
rs925991568
|
|
|
NM_006270.5(RRAS):c.253G>A (p.Ala85Thr)
|
|
|
|
NM_006270.5(RRAS):c.262del (p.Glu88fs)
|
|
|
|
NM_006270.5(RRAS):c.274G>A (p.Ala92Thr)
|
|
|
|
NM_006270.5(RRAS):c.289T>C (p.Tyr97His)
|
|
|
|
NM_006270.5(RRAS):c.28G>A (p.Gly10Arg)
|
|
|
|
NM_006270.5(RRAS):c.292A>G (p.Met98Val)
|
|
|
|
NM_006270.5(RRAS):c.295C>T (p.Arg99Cys)
|
|
|
|
NM_006270.5(RRAS):c.29G>C (p.Gly10Ala)
|
rs2081015676
|
|
|
NM_006270.5(RRAS):c.2T>A (p.Met1Lys)
|
rs928367564
|
|
|
NM_006270.5(RRAS):c.319G>A (p.Val107Met)
|
|
|
|
NM_006270.5(RRAS):c.337C>T (p.Arg113Trp)
|
|
|
|
NM_006270.5(RRAS):c.345-14G>A
|
|
|
|
NM_006270.5(RRAS):c.356T>G (p.Val119Gly)
|
rs2122419368
|
|
|
NM_006270.5(RRAS):c.367T>A (p.Phe123Ile)
|
|
|
|
NM_006270.5(RRAS):c.371C>G (p.Thr124Arg)
|
rs369508242
|
|
|
NM_006270.5(RRAS):c.382C>T (p.Arg128Trp)
|
rs1379523599
|
|
|
NM_006270.5(RRAS):c.395G>A (p.Arg132His)
|
|
|
|
NM_006270.5(RRAS):c.412G>T (p.Val138Leu)
|
rs2122419131
|
|
|
NM_006270.5(RRAS):c.436C>A (p.Leu146Met)
|
|
|
|
NM_006270.5(RRAS):c.449G>C (p.Arg150Pro)
|
rs1017555483
|
|
|
NM_006270.5(RRAS):c.44G>A (p.Arg15Gln)
|
|
|
|
NM_006270.5(RRAS):c.44G>C (p.Arg15Pro)
|
|
|
|
NM_006270.5(RRAS):c.454-6C>T
|
rs1568436933
|
|
|
NM_006270.5(RRAS):c.454G>A (p.Val152Ile)
|
|
|
|
NM_006270.5(RRAS):c.472_473insTT (p.Ser158fs)
|
rs760978291
|
|
|
NM_006270.5(RRAS):c.475G>C (p.Ala159Pro)
|
|
|
|
NM_006270.5(RRAS):c.484G>A (p.Ala162Thr)
|
|
|
|
NM_006270.5(RRAS):c.493C>G (p.His165Asp)
|
|
|
|
NM_006270.5(RRAS):c.498G>A (p.Val166=)
|
|
|
|
NM_006270.5(RRAS):c.50G>T (p.Gly17Val)
|
|
|
|
NM_006270.5(RRAS):c.526C>T (p.Arg176Cys)
|
rs775719606
|
|
|
NM_006270.5(RRAS):c.533A>C (p.Asn178Thr)
|
|
|
|
NM_006270.5(RRAS):c.541G>A (p.Glu181Lys)
|
|
|
|
NM_006270.5(RRAS):c.541G>C (p.Glu181Gln)
|
rs1428526675
|
|
|
NM_006270.5(RRAS):c.553C>A (p.Gln185Lys)
|
rs2122416729
|
|
|
NM_006270.5(RRAS):c.560T>C (p.Val187Ala)
|
rs1599813084
|
|
|
NM_006270.5(RRAS):c.563G>A (p.Arg188Gln)
|
rs374621936
|
|
|
NM_006270.5(RRAS):c.571C>T (p.Arg191Trp)
|
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|
NM_006270.5(RRAS):c.572+3G>A
|
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|
NM_006270.5(RRAS):c.572+5G>A
|
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|
|
NM_006270.5(RRAS):c.572G>A (p.Arg191Gln)
|
rs759803129
|
|
|
NM_006270.5(RRAS):c.572G>T (p.Arg191Leu)
|
rs759803129
|
|
|
NM_006270.5(RRAS):c.576A>G (p.Lys192=)
|
|
|
|
NM_006270.5(RRAS):c.599C>T (p.Pro200Leu)
|
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|
NM_006270.5(RRAS):c.610A>G (p.Ser204Gly)
|
|
|
|
NM_006270.5(RRAS):c.623A>G (p.Lys208Arg)
|
rs1568436746
|
|
|
NM_006270.5(RRAS):c.643T>C (p.Cys215Arg)
|
|
|
|
NM_006270.5(RRAS):c.67G>A (p.Asp23Asn)
|
rs2081015208
|
|
|
NM_006270.5(RRAS):c.70C>T (p.Pro24Ser)
|
rs2122429906
|
|
|
NM_006270.5(RRAS):c.74dup (p.Pro26fs)
|
rs755237250
|
|
|
NM_006270.5(RRAS):c.77C>T (p.Pro26Leu)
|
|
|
|
NM_006270.5(RRAS):c.84G>C (p.Glu28Asp)
|
|
|
|
NM_006270.5(RRAS):c.98T>C (p.Val33Ala)
|
rs2122429748
|
|
|
NM_006284.4(TAF10):c.*1074C>T
|
|
|
|
NM_006284.4(TAF10):c.*1413A>G
|
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|
NM_006284.4(TAF10):c.*1430G>C
|
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NM_006284.4(TAF10):c.*1761G>C
|
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NM_006284.4(TAF10):c.*2041A>G
|
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|
NM_006284.4(TAF10):c.*2129dup
|
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|
|
NM_006284.4(TAF10):c.*2535C>T
|
rs1405710988
|
|
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NM_006284.4(TAF10):c.*882C>T
|
rs1855340750
|
|
|
NM_006393.3(NEBL):c.1004G>T (p.Ser335Ile)
|
rs1842654577
|
|
|
NM_006393.3(NEBL):c.1008+1G>C
|
|
|
|
NM_006393.3(NEBL):c.1008+5A>T
|
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|
|
NM_006393.3(NEBL):c.1009-6A>G
|
|
|
|
NM_006393.3(NEBL):c.1009-9C>A
|
rs761381479
|
|
|
NM_006393.3(NEBL):c.1009G>T (p.Val337Leu)
|
|
|
|
NM_006393.3(NEBL):c.1020del (p.Glu341fs)
|
rs2131052910
|
|
|
NM_006393.3(NEBL):c.1021GAA[1] (p.Glu342del)
|
|
|
|
NM_006393.3(NEBL):c.1028A>G (p.Tyr343Cys)
|
rs876657925
|
|
|
NM_006393.3(NEBL):c.1037del (p.Asn346fs)
|
rs767349615
|
|
|
NM_006393.3(NEBL):c.1039A>G (p.Lys347Glu)
|
rs1842398385
|
|
|
NM_006393.3(NEBL):c.1062T>G (p.Phe354Leu)
|
rs996916612
|
|
|
NM_006393.3(NEBL):c.1076C>T (p.Ser359Leu)
|
rs1842393771
|
|
|
NM_006393.3(NEBL):c.1088C>T (p.Ser363Leu)
|
rs747086170
|
|
|
NM_006393.3(NEBL):c.1104G>C (p.Lys368Asn)
|
rs2131051844
|
|
|
NM_006393.3(NEBL):c.1112G>A (p.Ser371Asn)
|
|
|
|
NM_006393.3(NEBL):c.1123del (p.Tyr375fs)
|
|
|
|
NM_006393.3(NEBL):c.1129G>T (p.Glu377Ter)
|
|
|
|
NM_006393.3(NEBL):c.113G>A (p.Ser38Asn)
|
|
|
|
NM_006393.3(NEBL):c.116T>C (p.Met39Thr)
|
|
|
|
NM_006393.3(NEBL):c.1189T>G (p.Phe397Val)
|
|
|
|
NM_006393.3(NEBL):c.1195C>T (p.His399Tyr)
|
|
|
|
NM_006393.3(NEBL):c.1197T>G (p.His399Gln)
|
rs903764018
|
|
|
NM_006393.3(NEBL):c.1212C>T (p.Thr404=)
|
|
|
|
NM_006393.3(NEBL):c.1227+1G>A
|
rs1841789797
|
|
|
NM_006393.3(NEBL):c.1227+5G>C
|
rs370026081
|
|
|
NM_006393.3(NEBL):c.1228-3T>C
|
rs1588750815
|
|
|
NM_006393.3(NEBL):c.1228-4A>T
|
|
|
|
NM_006393.3(NEBL):c.1234T>C (p.Tyr412His)
|
|
|
|
NM_006393.3(NEBL):c.1241A>C (p.Lys414Thr)
|
|
|
|
NM_006393.3(NEBL):c.1243G>A (p.Asp415Asn)
|
|
|
|
NM_006393.3(NEBL):c.1244A>C (p.Asp415Ala)
|
|
|
|
NM_006393.3(NEBL):c.1246T>A (p.Leu416Met)
|
|
|
|
NM_006393.3(NEBL):c.1259T>C (p.Ile420Thr)
|
rs1841346894
|
|
|
NM_006393.3(NEBL):c.1269A>T (p.Lys423Asn)
|
rs138932199
|
|
|
NM_006393.3(NEBL):c.1274T>C (p.Met425Thr)
|
|
|
|
NM_006393.3(NEBL):c.1300A>C (p.Ile434Leu)
|
|
|
|
NM_006393.3(NEBL):c.1315C>T (p.Arg439Ter)
|
|
|
|
NM_006393.3(NEBL):c.1318G>A (p.Ala440Thr)
|
|
|
|
NM_006393.3(NEBL):c.1322C>G (p.Ser441Cys)
|
rs1841337096
|
|
|
NM_006393.3(NEBL):c.1339-3C>G
|
|
|
|
NM_006393.3(NEBL):c.135C>T (p.Cys45=)
|
rs757156256
|
|
|
NM_006393.3(NEBL):c.136A>G (p.Thr46Ala)
|
rs751607557
|
|
|
NM_006393.3(NEBL):c.1378A>G (p.Lys460Glu)
|
|
|
|
NM_006393.3(NEBL):c.1391_1392delinsGG (p.Ala464Gly)
|
rs2130934659
|
|
|
NM_006393.3(NEBL):c.1401C>G (p.Asp467Glu)
|
rs769479569
|
|
|
NM_006393.3(NEBL):c.1414C>T (p.Gln472Ter)
|
|
|
|
NM_006393.3(NEBL):c.1424A>G (p.Lys475Arg)
|
|
|
|
NM_006393.3(NEBL):c.1429G>A (p.Ala477Thr)
|
|
|
|
NM_006393.3(NEBL):c.1431_1437del (p.Ala477_Ala478insTer)
|
|
|
|
NM_006393.3(NEBL):c.1439T>C (p.Ile480Thr)
|
|
|
|
NM_006393.3(NEBL):c.1449+12G>A
|
|
|
|
NM_006393.3(NEBL):c.1457A>G (p.Tyr486Cys)
|
|
|
|
NM_006393.3(NEBL):c.1466A>T (p.Asp489Val)
|
|
|
|
NM_006393.3(NEBL):c.1469T>C (p.Leu490Pro)
|
rs1840423988
|
|
|
NM_006393.3(NEBL):c.1473G>T (p.Glu491Asp)
|
|
|
|
NM_006393.3(NEBL):c.1478A>G (p.Glu493Gly)
|
|
|
|
NM_006393.3(NEBL):c.1508_1509del (p.Thr503fs)
|
|
|
|
NM_006393.3(NEBL):c.1510_1513del (p.Asp504fs)
|
rs745728544
|
|
|
NM_006393.3(NEBL):c.151G>A (p.Asp51Asn)
|
rs1269179367
|
|
|
NM_006393.3(NEBL):c.153+1G>A
|
|
|
|
NM_006393.3(NEBL):c.1549A>T (p.Met517Leu)
|
rs1430856878
|
|
|
NM_006393.3(NEBL):c.1560+2T>C
|
|
|
|
NM_006393.3(NEBL):c.1563del (p.Lys521fs)
|
rs1840390408
|
|
|
NM_006393.3(NEBL):c.1572del (p.Lys525fs)
|
rs879600856
|
|
|
NM_006393.3(NEBL):c.1584A>C (p.Glu528Asp)
|
rs1840387740
|
|
|
NM_006393.3(NEBL):c.1597G>A (p.Gly533Arg)
|
rs541364544
|
|
|
NM_006393.3(NEBL):c.1604G>A (p.Gly535Glu)
|
|
|
|
NM_006393.3(NEBL):c.1616G>A (p.Ser539Asn)
|
|
|
|
NM_006393.3(NEBL):c.1618A>G (p.Met540Val)
|
|
|
|
NM_006393.3(NEBL):c.161A>G (p.Tyr54Cys)
|
|
|
|
NM_006393.3(NEBL):c.161A>T (p.Tyr54Phe)
|
|
|
|
NM_006393.3(NEBL):c.1621G>T (p.Asp541Tyr)
|
|
|
|
NM_006393.3(NEBL):c.1636C>T (p.Leu546Phe)
|
|
|
|
NM_006393.3(NEBL):c.1640G>A (p.Arg547Gln)
|
rs747238199
|
|
|
NM_006393.3(NEBL):c.1643C>G (p.Ala548Gly)
|
rs2130907056
|
|
|
NM_006393.3(NEBL):c.1671+4G>A
|
rs528164655
|
|
|
NM_006393.3(NEBL):c.1671+5G>C
|
|
|
|
NM_006393.3(NEBL):c.1672-3T>C
|
rs1554779376
|
|
|
NM_006393.3(NEBL):c.1672-5T>G
|
|
|
|
NM_006393.3(NEBL):c.1672A>C (p.Arg558=)
|
rs944343501
|
|
|
NM_006393.3(NEBL):c.1677G>T (p.Lys559Asn)
|
rs1013844942
|
|
|
NM_006393.3(NEBL):c.1691C>T (p.Ala564Val)
|
rs1840109648
|
|
|
NM_006393.3(NEBL):c.1696A>C (p.Lys566Gln)
|
rs1060503680
|
|
|
NM_006393.3(NEBL):c.1722A>G (p.Ile574Met)
|
|
|
|
NM_006393.3(NEBL):c.1723G>A (p.Ala575Thr)
|
|
|
|
NM_006393.3(NEBL):c.1732C>T (p.Pro578Ser)
|
|
|
|
NM_006393.3(NEBL):c.173_174del (p.Glu57_Phe58insTer)
|
rs1846880633
|
|
|
NM_006393.3(NEBL):c.1756A>G (p.Thr586Ala)
|
|
|
|
NM_006393.3(NEBL):c.1758_1762del (p.Gln587fs)
|
rs758450195
|
|
|
NM_006393.3(NEBL):c.1775C>T (p.Ala592Val)
|
rs146275785
|
|
|
NM_006393.3(NEBL):c.1783T>G (p.Tyr595Asp)
|
rs2130874323
|
|
|
NM_006393.3(NEBL):c.1810G>A (p.Ala604Thr)
|
|
|
|
NM_006393.3(NEBL):c.1837C>G (p.Arg613Gly)
|
|
|
|
NM_006393.3(NEBL):c.1859A>G (p.Asn620Ser)
|
|
|
|
NM_006393.3(NEBL):c.1869+5G>A
|
rs1346776842
|
|
|
NM_006393.3(NEBL):c.1869A>G (p.Ser623=)
|
|
|
|
NM_006393.3(NEBL):c.1870-1G>T
|
rs112010030
|
|
|
NM_006393.3(NEBL):c.1895A>G (p.His632Arg)
|
|
|
|
NM_006393.3(NEBL):c.1906A>G (p.Ile636Val)
|
rs1564356559
|
|
|
NM_006393.3(NEBL):c.1916C>T (p.Pro639Leu)
|
|
|
|
NM_006393.3(NEBL):c.1928del (p.Lys643fs)
|
rs754334553
|
|
|
NM_006393.3(NEBL):c.1933G>A (p.Val645Ile)
|
rs1169892636
|
|
|
NM_006393.3(NEBL):c.1940A>G (p.Glu647Gly)
|
|
|
|
NM_006393.3(NEBL):c.1943dup (p.Asn648fs)
|
|
|
|
NM_006393.3(NEBL):c.1948A>G (p.Lys650Glu)
|
|
|
|
NM_006393.3(NEBL):c.1952A>C (p.Asn651Thr)
|
|
|
|
NM_006393.3(NEBL):c.1987A>C (p.Lys663Gln)
|
rs751064460
|
|
|
NM_006393.3(NEBL):c.1990G>T (p.Ala664Ser)
|
rs2130827997
|
|
|
NM_006393.3(NEBL):c.2015A>T (p.Glu672Val)
|
|
|
|
NM_006393.3(NEBL):c.2020G>A (p.Glu674Lys)
|
|
|
|
NM_006393.3(NEBL):c.2024G>A (p.Arg675Lys)
|
rs1839060822
|
|
|
NM_006393.3(NEBL):c.2032C>T (p.Arg678Ter)
|
|
|
|
NM_006393.3(NEBL):c.2041_2043dup (p.Glu681_Gln682insGlu)
|
|
|
|
NM_006393.3(NEBL):c.2050A>C (p.Ser684Arg)
|
|
|
|
NM_006393.3(NEBL):c.2051G>A (p.Ser684Asn)
|
|
|
|
NM_006393.3(NEBL):c.2063A>T (p.Tyr688Phe)
|
|
|
|
NM_006393.3(NEBL):c.2066A>G (p.Lys689Arg)
|
rs1838865198
|
|
|
NM_006393.3(NEBL):c.2110C>G (p.Leu704Val)
|
rs751282061
|
|
|
NM_006393.3(NEBL):c.2122A>C (p.Lys708Gln)
|
|
|
|
NM_006393.3(NEBL):c.2147A>G (p.Asn716Ser)
|
|
|
|
NM_006393.3(NEBL):c.2148+2T>A
|
|
|
|
NM_006393.3(NEBL):c.2149-2A>C
|
rs367588562
|
|
|
NM_006393.3(NEBL):c.2155T>G (p.Tyr719Asp)
|
rs1427758049
|
|
|
NM_006393.3(NEBL):c.2164C>A (p.Gln722Lys)
|
rs1459943747
|
|
|
NM_006393.3(NEBL):c.2177C>A (p.Ala726Asp)
|
|
|
|
NM_006393.3(NEBL):c.2183C>T (p.Thr728Ile)
|
|
|
|
NM_006393.3(NEBL):c.2191G>A (p.Val731Ile)
|
|
|
|
NM_006393.3(NEBL):c.2192dup (p.Thr732fs)
|
|
|
|
NM_006393.3(NEBL):c.2230A>C (p.Asn744His)
|
rs2130804609
|
|
|
NM_006393.3(NEBL):c.2237G>C (p.Ser746Thr)
|
|
|
|
NM_006393.3(NEBL):c.2242-1G>A
|
|
|
|
NM_006393.3(NEBL):c.2252C>T (p.Thr751Ile)
|
|
|
|
NM_006393.3(NEBL):c.2262_2275del (p.His754fs)
|
|
|
|
NM_006393.3(NEBL):c.2266C>T (p.Gln756Ter)
|
|
|
|
NM_006393.3(NEBL):c.2275G>C (p.Gly759Arg)
|
|
|
|
NM_006393.3(NEBL):c.2287C>G (p.Leu763Val)
|
rs768389033
|
|
|
NM_006393.3(NEBL):c.2313A>T (p.Arg771Ser)
|
|
|
|
NM_006393.3(NEBL):c.2315A>T (p.His772Leu)
|
|
|
|
NM_006393.3(NEBL):c.2332A>T (p.Asn778Tyr)
|
|
|
|
NM_006393.3(NEBL):c.2335C>A (p.His779Asn)
|
rs1438423663
|
|
|
NM_006393.3(NEBL):c.2346+5G>A
|
|
|
|
NM_006393.3(NEBL):c.2347G>A (p.Val783Ile)
|
|
|
|
NM_006393.3(NEBL):c.2363A>G (p.Asp788Gly)
|
|
|
|
NM_006393.3(NEBL):c.2365T>A (p.Phe789Ile)
|
rs1564345984
|
|
|
NM_006393.3(NEBL):c.2391T>G (p.Phe797Leu)
|
rs1060503681
|
|
|
NM_006393.3(NEBL):c.241G>T (p.Gly81Cys)
|
rs369862013
|
|
|
NM_006393.3(NEBL):c.2428A>G (p.Arg810Gly)
|
|
|
|
NM_006393.3(NEBL):c.242G>A (p.Gly81Asp)
|
rs1442801795
|
|
|
NM_006393.3(NEBL):c.242del (p.Gly81fs)
|
|
|
|
NM_006393.3(NEBL):c.2446G>A (p.Val816Ile)
|
rs2130787684
|
|
|
NM_006393.3(NEBL):c.2452G>A (p.Asp818Asn)
|
|
|
|
NM_006393.3(NEBL):c.2465A>T (p.Lys822Ile)
|
|
|
|
NM_006393.3(NEBL):c.2468G>A (p.Gly823Glu)
|
rs2130787472
|
|
|
NM_006393.3(NEBL):c.2470G>C (p.Val824Leu)
|
|
|
|
NM_006393.3(NEBL):c.2480A>G (p.His827Arg)
|
rs372763596
|
|
|
NM_006393.3(NEBL):c.2481C>G (p.His827Gln)
|
|
|
|
NM_006393.3(NEBL):c.2483T>A (p.Ile828Asn)
|
rs2130787312
|
|
|
NM_006393.3(NEBL):c.2499G>T (p.Arg833Ser)
|
rs727505285
|
|
|
NM_006393.3(NEBL):c.2501G>A (p.Arg834Lys)
|
|
|
|
NM_006393.3(NEBL):c.250A>T (p.Ile84Phe)
|
|
|
|
NM_006393.3(NEBL):c.2517T>G (p.Val839=)
|
|
|
|
NM_006393.3(NEBL):c.2519-1G>A
|
|
|
|
NM_006393.3(NEBL):c.2519-1G>T
|
|
|
|
NM_006393.3(NEBL):c.2519-2A>G
|
|
|
|
NM_006393.3(NEBL):c.2519-3A>G
|
rs1396613955
|
|
|
NM_006393.3(NEBL):c.2534G>A (p.Arg845His)
|
rs761052528
|
|
|
NM_006393.3(NEBL):c.2543C>T (p.Pro848Leu)
|
rs1837961214
|
|
|
NM_006393.3(NEBL):c.258+3A>G
|
|
|
|
NM_006393.3(NEBL):c.259-2A>G
|
|
|
|
NM_006393.3(NEBL):c.259-7C>G
|
rs201590910
|
|
|
NM_006393.3(NEBL):c.2599C>T (p.His867Tyr)
|
|
|
|
NM_006393.3(NEBL):c.259G>A (p.Ala87Thr)
|
rs368856187
|
|
|
NM_006393.3(NEBL):c.2612-6A>G
|
rs377317796
|
|
|
NM_006393.3(NEBL):c.2618C>T (p.Ala873Val)
|
|
|
|
NM_006393.3(NEBL):c.2645G>T (p.Arg882Leu)
|
rs758877499
|
|
|
NM_006393.3(NEBL):c.2653T>C (p.Ser885Pro)
|
|
|
|
NM_006393.3(NEBL):c.2658C>G (p.Ser886Arg)
|
|
|
|
NM_006393.3(NEBL):c.2674G>T (p.Gly892Cys)
|
|
|
|
NM_006393.3(NEBL):c.2683GAC[1] (p.Asp896del)
|
rs1837836867
|
|
|
NM_006393.3(NEBL):c.2686G>A (p.Asp896Asn)
|
|
|
|
NM_006393.3(NEBL):c.2686dup (p.Asp896fs)
|
rs766320208
|
|
|
NM_006393.3(NEBL):c.2689A>G (p.Arg897Gly)
|
rs2130760889
|
|
|
NM_006393.3(NEBL):c.2699_2700delinsAA (p.Ile900Lys)
|
|
|
|
NM_006393.3(NEBL):c.2725T>C (p.Cys909Arg)
|
|
|
|
NM_006393.3(NEBL):c.2726G>A (p.Cys909Tyr)
|
|
|
|
NM_006393.3(NEBL):c.2734G>A (p.Glu912Lys)
|
|
|
|
NM_006393.3(NEBL):c.2737G>A (p.Val913Ile)
|
rs1564341986
|
|
|
NM_006393.3(NEBL):c.2740A>T (p.Thr914Ser)
|
rs1369499702
|
|
|
NM_006393.3(NEBL):c.2747C>T (p.Pro916Leu)
|
rs143149169
|
|
|
NM_006393.3(NEBL):c.275C>G (p.Thr92Ser)
|
|
|
|
NM_006393.3(NEBL):c.2771T>A (p.Leu924His)
|
|
|
|
NM_006393.3(NEBL):c.2776G>A (p.Gly926Arg)
|
|
|
|
NM_006393.3(NEBL):c.2777G>C (p.Gly926Ala)
|
|
|
|
NM_006393.3(NEBL):c.2778A>T (p.Gly926=)
|
rs1835500948
|
|
|
NM_006393.3(NEBL):c.2813A>G (p.Tyr938Cys)
|
rs1024719266
|
|
|
NM_006393.3(NEBL):c.2816T>A (p.Met939Lys)
|
|
|
|
NM_006393.3(NEBL):c.2830G>A (p.Val944Met)
|
|
|
|
NM_006393.3(NEBL):c.2833_2841del (p.Ser945_Met947del)
|
|
|
|
NM_006393.3(NEBL):c.2839A>C (p.Met947Leu)
|
|
|
|
NM_006393.3(NEBL):c.2849T>C (p.Met950Thr)
|
rs1835493262
|
|
|
NM_006393.3(NEBL):c.284C>G (p.Ala95Gly)
|
rs769868347
|
|
|
NM_006393.3(NEBL):c.2851C>T (p.Gln951Ter)
|
rs2131619034
|
|
|
NM_006393.3(NEBL):c.2864dup (p.Asn955fs)
|
rs2131618949
|
|
|
NM_006393.3(NEBL):c.2890G>A (p.Asp964Asn)
|
|
|
|
NM_006393.3(NEBL):c.2897G>T (p.Ser966Ile)
|
|
|
|
NM_006393.3(NEBL):c.28A>G (p.Lys10Glu)
|
|
|
|
NM_006393.3(NEBL):c.2905G>T (p.Asp969Tyr)
|
rs1588586303
|
|
|
NM_006393.3(NEBL):c.2906A>G (p.Asp969Gly)
|
rs2131613917
|
|
|
NM_006393.3(NEBL):c.2932G>A (p.Gly978Ser)
|
rs1835362564
|
|
|
NM_006393.3(NEBL):c.2935G>A (p.Asp979Asn)
|
|
|
|
NM_006393.3(NEBL):c.2947A>G (p.Asn983Asp)
|
rs1835360345
|
|
|
NM_006393.3(NEBL):c.2955G>T (p.Gln985His)
|
rs201571938
|
|
|
NM_006393.3(NEBL):c.2965G>A (p.Asp989Asn)
|
|
|
|
NM_006393.3(NEBL):c.2966A>G (p.Asp989Gly)
|
|
|
|
NM_006393.3(NEBL):c.297T>G (p.Asn99Lys)
|
rs1363794425
|
|
|
NM_006393.3(NEBL):c.3013C>T (p.Leu1005Phe)
|
|
|
|
NM_006393.3(NEBL):c.3031G>A (p.Glu1011Lys)
|
rs375208825
|
|
|
NM_006393.3(NEBL):c.3043T>C (p.Ter1015Gln)
|
rs763015983
|
|
|
NM_006393.3(NEBL):c.311G>T (p.Arg104Leu)
|
|
|
|
NM_006393.3(NEBL):c.344_346del (p.Gly115del)
|
rs773042028
|
|
|
NM_006393.3(NEBL):c.359T>C (p.Leu120Pro)
|
|
|
|
NM_006393.3(NEBL):c.366T>A (p.Ser122Arg)
|
|
|
|
NM_006393.3(NEBL):c.369+1G>A
|
|
|
|
NM_006393.3(NEBL):c.369+4G>A
|
|
|
|
NM_006393.3(NEBL):c.370-2A>G
|
|
|
|
NM_006393.3(NEBL):c.373G>A (p.Ala125Thr)
|
|
|
|
NM_006393.3(NEBL):c.383A>G (p.Gln128Arg)
|
rs139809958
|
|
|
NM_006393.3(NEBL):c.418G>C (p.Ala140Pro)
|
rs2131316427
|
|
|
NM_006393.3(NEBL):c.419C>G (p.Ala140Gly)
|
|
|
|
NM_006393.3(NEBL):c.434C>T (p.Pro145Leu)
|
rs1845953617
|
|
|
NM_006393.3(NEBL):c.439G>A (p.Glu147Lys)
|
|
|
|
NM_006393.3(NEBL):c.448C>T (p.His150Tyr)
|
|
|
|
NM_006393.3(NEBL):c.451G>A (p.Ala151Thr)
|
|
|
|
NM_006393.3(NEBL):c.454A>G (p.Met152Val)
|
|
|
|
NM_006393.3(NEBL):c.455T>C (p.Met152Thr)
|
|
|
|
NM_006393.3(NEBL):c.456G>A (p.Met152Ile)
|
rs1238447316
|
|
|
NM_006393.3(NEBL):c.464A>G (p.Asn155Ser)
|
|
|
|
NM_006393.3(NEBL):c.479A>G (p.Asn160Ser)
|
|
|
|
NM_006393.3(NEBL):c.480T>G (p.Asn160Lys)
|
|
|
|
NM_006393.3(NEBL):c.481-14C>G
|
|
|
|
NM_006393.3(NEBL):c.496G>C (p.Asp166His)
|
rs780036701
|
|
|
NM_006393.3(NEBL):c.498C>A (p.Asp166Glu)
|
rs371105861
|
|
|
NM_006393.3(NEBL):c.502C>G (p.Gln168Glu)
|
|
|
|
NM_006393.3(NEBL):c.505_526dup (p.Glu176fs)
|
|
|
|
NM_006393.3(NEBL):c.509C>T (p.Thr170Ile)
|
rs1564404256
|
|
|
NM_006393.3(NEBL):c.515C>T (p.Thr172Met)
|
rs548438161
|
|
|
NM_006393.3(NEBL):c.53T>C (p.Ile18Thr)
|
|
|
|
NM_006393.3(NEBL):c.574A>G (p.Ile192Val)
|
rs758465790
|
|
|
NM_006393.3(NEBL):c.58G>A (p.Glu20Lys)
|
rs2131413901
|
|
|
NM_006393.3(NEBL):c.590A>G (p.Tyr197Cys)
|
|
|
|
NM_006393.3(NEBL):c.614A>G (p.Asn205Ser)
|
rs794729077
|
|
|
NM_006393.3(NEBL):c.641C>T (p.Pro214Leu)
|
|
|
|
NM_006393.3(NEBL):c.647T>C (p.Phe216Ser)
|
|
|
|
NM_006393.3(NEBL):c.652C>T (p.His218Tyr)
|
|
|
|
NM_006393.3(NEBL):c.658G>A (p.Val220Met)
|
rs571563897
|
|
|
NM_006393.3(NEBL):c.658G>T (p.Val220Leu)
|
rs571563897
|
|
|
NM_006393.3(NEBL):c.65A>G (p.Glu22Gly)
|
|
|
|
NM_006393.3(NEBL):c.67_72del (p.Asn23_Glu24del)
|
rs778962398
|
|
|
NM_006393.3(NEBL):c.687T>G (p.Ile229Met)
|
rs768661641
|
|
|
NM_006393.3(NEBL):c.692A>T (p.Tyr231Phe)
|
rs920640841
|
|
|
NM_006393.3(NEBL):c.700A>G (p.Lys234Glu)
|
rs568662113
|
|
|
NM_006393.3(NEBL):c.709A>G (p.Asn237Asp)
|
rs1588846853
|
|
|
NM_006393.3(NEBL):c.722A>T (p.Asp241Val)
|
|
|
|
NM_006393.3(NEBL):c.72AGA[1] (p.Glu25del)
|
rs794729080
|
|
|
NM_006393.3(NEBL):c.732T>A (p.His244Gln)
|
rs1843479030
|
|
|
NM_006393.3(NEBL):c.738C>G (p.Tyr246Ter)
|
rs778455217
|
|
|
NM_006393.3(NEBL):c.755C>T (p.Ala252Val)
|
rs2131146354
|
|
|
NM_006393.3(NEBL):c.765_766delinsAA (p.Gln256Lys)
|
rs1843470481
|
|
|
NM_006393.3(NEBL):c.773A>G (p.Gln258Arg)
|
rs924565857
|
|
|
NM_006393.3(NEBL):c.791C>T (p.Ala264Val)
|
rs548922223
|
|
|
NM_006393.3(NEBL):c.801G>T (p.Val267=)
|
|
|
|
NM_006393.3(NEBL):c.814G>C (p.Asp272His)
|
|
|
|
NM_006393.3(NEBL):c.826A>G (p.Met276Val)
|
rs1373986579
|
|
|
NM_006393.3(NEBL):c.828G>A (p.Met276Ile)
|
|
|
|
NM_006393.3(NEBL):c.838G>A (p.Val280Ile)
|
|
|
|
NM_006393.3(NEBL):c.853A>G (p.Asn285Asp)
|
rs1843299381
|
|
|
NM_006393.3(NEBL):c.858G>C (p.Leu286Phe)
|
|
|
|
NM_006393.3(NEBL):c.858G>T (p.Leu286Phe)
|
rs765274802
|
|
|
NM_006393.3(NEBL):c.858GTT[1] (p.Leu287del)
|
rs757466908
|
|
|
NM_006393.3(NEBL):c.863T>C (p.Phe288Ser)
|
|
|
|
NM_006393.3(NEBL):c.903+1G>A
|
rs775057540
|
|
|
NM_006393.3(NEBL):c.903+2del
|
rs1588839902
|
|
|
NM_006393.3(NEBL):c.903+4dup
|
rs1564391383
|
|
|
NM_006393.3(NEBL):c.905G>A (p.Arg302Gln)
|
|
|
|
NM_006393.3(NEBL):c.940A>G (p.Met314Val)
|
|
|
|
NM_006393.3(NEBL):c.942G>A (p.Met314Ile)
|
|
|
|
NM_006393.3(NEBL):c.959A>G (p.Asp320Gly)
|
|
|
|
NM_006393.3(NEBL):c.962C>T (p.Ala321Val)
|
rs1842659148
|
|
|
NM_006393.3(NEBL):c.976C>T (p.His326Tyr)
|
rs1232048555
|
|
|
NM_006393.3(NEBL):c.980A>G (p.His327Arg)
|
|
|
|
NM_006440.5(TXNRD2):c.1009G>A (p.Asp337Asn)
|
|
|
|
NM_006440.5(TXNRD2):c.1011C>A (p.Asp337Glu)
|
rs1569073275
|
|
|
NM_006440.5(TXNRD2):c.1032C>A (p.Asp344Glu)
|
|
|
|
NM_006440.5(TXNRD2):c.103G>C (p.Ala35Pro)
|
|
|
|
NM_006440.5(TXNRD2):c.104-14A>T
|
|
|
|
NM_006440.5(TXNRD2):c.104-1G>A
|
rs781473800
|
|
|
NM_006440.5(TXNRD2):c.1058A>C (p.His353Pro)
|
rs1307604976
|
|
|
NM_006440.5(TXNRD2):c.1058A>G (p.His353Arg)
|
rs1307604976
|
|
|
NM_006440.5(TXNRD2):c.1066G>A (p.Ala356Thr)
|
rs576244023
|
|
|
NM_006440.5(TXNRD2):c.1070T>C (p.Ile357Thr)
|
|
|
|
NM_006440.5(TXNRD2):c.1078G>C (p.Val360Leu)
|
|
|
|
NM_006440.5(TXNRD2):c.1091G>T (p.Arg364Leu)
|
rs199734322
|
|
|
NM_006440.5(TXNRD2):c.1106C>A (p.Pro369His)
|
rs1489194482
|
|
|
NM_006440.5(TXNRD2):c.1117A>G (p.Met373Val)
|
rs2145933186
|
|
|
NM_006440.5(TXNRD2):c.1118T>C (p.Met373Thr)
|
rs1938732295
|
|
|
NM_006440.5(TXNRD2):c.1123G>C (p.Gly375Arg)
|
rs757239766
|
|
|
NM_006440.5(TXNRD2):c.1124G>T (p.Gly375Val)
|
|
|
|
NM_006440.5(TXNRD2):c.1142G>A (p.Arg381Gln)
|
rs774909194
|
|
|
NM_006440.5(TXNRD2):c.1150G>C (p.Gly384Arg)
|
rs192869629
|
|
|
NM_006440.5(TXNRD2):c.1153G>A (p.Gly385Arg)
|
rs528059873
|
|
|
NM_006440.5(TXNRD2):c.1154G>C (p.Gly385Ala)
|
rs1938727490
|
|
|
NM_006440.5(TXNRD2):c.1178A>G (p.Asp393Gly)
|
rs2145932871
|
|
|
NM_006440.5(TXNRD2):c.1180A>G (p.Asn394Asp)
|
|
|
|
NM_006440.5(TXNRD2):c.1182T>C (p.Asn394=)
|
rs1938724361
|
|
|
NM_006440.5(TXNRD2):c.1183-10_1183-7del
|
rs1569070709
|
|
|
NM_006440.5(TXNRD2):c.1183-4T>C
|
|
|
|
NM_006440.5(TXNRD2):c.11T>C (p.Met4Thr)
|
rs1429174414
|
|
|
NM_006440.5(TXNRD2):c.1205C>T (p.Pro402Leu)
|
|
|
|
NM_006440.5(TXNRD2):c.1252C>T (p.Arg418Cys)
|
|
|
|
NM_006440.5(TXNRD2):c.1253G>A (p.Arg418His)
|
rs1388670551
|
|
|
NM_006440.5(TXNRD2):c.1258G>A (p.Gly420Arg)
|
|
|
|
NM_006440.5(TXNRD2):c.1262A>G (p.Gln421Arg)
|
|
|
|
NM_006440.5(TXNRD2):c.1266G>C (p.Glu422Asp)
|
rs1569070557
|
|
|
NM_006440.5(TXNRD2):c.1275+6G>A
|
|
|
|
NM_006440.5(TXNRD2):c.1276-1G>A
|
rs2145927925
|
|
|
NM_006440.5(TXNRD2):c.1280A>G (p.Tyr427Cys)
|
rs1938608628
|
|
|
NM_006440.5(TXNRD2):c.1301T>C (p.Leu434Pro)
|
rs2145927851
|
|
|
NM_006440.5(TXNRD2):c.1310C>T (p.Thr437Met)
|
|
|
|
NM_006440.5(TXNRD2):c.1334A>G (p.Gln445Arg)
|
rs1938606140
|
|
|
NM_006440.5(TXNRD2):c.136G>A (p.Gly46Ser)
|
|
|
|
NM_006440.5(TXNRD2):c.1370dup (p.Gln458fs)
|
rs758790391
|
|
|
NM_006440.5(TXNRD2):c.1378G>A (p.Val460Met)
|
rs770442788
|
|
|
NM_006440.5(TXNRD2):c.1407C>G (p.Asn469Lys)
|
rs200063300
|
|
|
NM_006440.5(TXNRD2):c.1420A>G (p.Thr474Ala)
|
|
|
|
NM_006440.5(TXNRD2):c.1445+7C>A
|
|
|
|
NM_006440.5(TXNRD2):c.1445A>C (p.Lys482Thr)
|
rs763072970
|
|
|
NM_006440.5(TXNRD2):c.1451G>A (p.Gly484Glu)
|
rs1409074647
|
|
|
NM_006440.5(TXNRD2):c.1460A>C (p.Tyr487Ser)
|
|
|
|
NM_006440.5(TXNRD2):c.1471A>G (p.Met491Val)
|
|
|
|
NM_006440.5(TXNRD2):c.1478C>T (p.Thr493Ile)
|
|
|
|
NM_006440.5(TXNRD2):c.1484G>T (p.Gly495Val)
|
|
|
|
NM_006440.5(TXNRD2):c.1492C>T (p.Pro498Ser)
|
rs1569068105
|
|
|
NM_006440.5(TXNRD2):c.1499_1500delinsAA (p.Cys500Ter)
|
|
|
|
NM_006440.5(TXNRD2):c.14C>G (p.Ala5Gly)
|
|
|
|
NM_006440.5(TXNRD2):c.14C>T (p.Ala5Val)
|
rs775392322
|
|
|
NM_006440.5(TXNRD2):c.1514T>C (p.Val505Ala)
|
rs759613137
|
|
|
NM_006440.5(TXNRD2):c.1522C>G (p.Arg508Gly)
|
rs368176907
|
|
|
NM_006440.5(TXNRD2):c.1546G>C (p.Asp516His)
|
rs1221993025
|
|
|
NM_006440.5(TXNRD2):c.1553C>T (p.Thr518Met)
|
|
|
|
NM_006440.5(TXNRD2):c.1575A>C (p.Ter525Tyr)
|
|
|
|
NM_006440.5(TXNRD2):c.177_178delinsTT (p.Gln60Ter)
|
rs1940808459
|
|
|
NM_006440.5(TXNRD2):c.187A>G (p.Arg63Gly)
|
rs2146049658
|
|
|
NM_006440.5(TXNRD2):c.1A>G (p.Met1Val)
|
|
|
|
NM_006440.5(TXNRD2):c.205G>T (p.Asp69Tyr)
|
rs768403549
|
|
|
NM_006440.5(TXNRD2):c.20C>G (p.Ala7Gly)
|
|
|
|
NM_006440.5(TXNRD2):c.211G>A (p.Val71Met)
|
|
|
|
NM_006440.5(TXNRD2):c.230-2A>G
|
|
|
|
NM_006440.5(TXNRD2):c.236G>T (p.Arg79Leu)
|
rs373979810
|
|
|
NM_006440.5(TXNRD2):c.247G>A (p.Gly83Ser)
|
|
|
|
NM_006440.5(TXNRD2):c.26G>C (p.Arg9Pro)
|
|
|
|
NM_006440.5(TXNRD2):c.284A>G (p.Lys95Arg)
|
|
|
|
NM_006440.5(TXNRD2):c.299C>A (p.Ala100Glu)
|
rs767878935
|
|
|
NM_006440.5(TXNRD2):c.299C>T (p.Ala100Val)
|
|
|
|
NM_006440.5(TXNRD2):c.29G>C (p.Gly10Ala)
|
rs1159919237
|
|
|
NM_006440.5(TXNRD2):c.313G>A (p.Gly105Ser)
|
rs1429132177
|
|
|
NM_006440.5(TXNRD2):c.335A>G (p.Asn112Ser)
|
|
|
|
NM_006440.5(TXNRD2):c.335A>T (p.Asn112Ile)
|
rs758941896
|
|
|
NM_006440.5(TXNRD2):c.337T>C (p.Tyr113His)
|
rs869025560
|
|
|
NM_006440.5(TXNRD2):c.364C>A (p.Pro122Thr)
|
|
|
|
NM_006440.5(TXNRD2):c.364C>T (p.Pro122Ser)
|
rs1432720365
|
|
|
NM_006440.5(TXNRD2):c.365C>T (p.Pro122Leu)
|
|
|
|
NM_006440.5(TXNRD2):c.382A>T (p.Met128Leu)
|
rs1940724639
|
|
|
NM_006440.5(TXNRD2):c.385G>A (p.Ala129Thr)
|
|
|
|
NM_006440.5(TXNRD2):c.392C>G (p.Ala131Gly)
|
rs368359642
|
|
|
NM_006440.5(TXNRD2):c.392C>T (p.Ala131Val)
|
rs368359642
|
|
|
NM_006440.5(TXNRD2):c.403del (p.His135fs)
|
rs1940723314
|
|
|
NM_006440.5(TXNRD2):c.406G>A (p.Val136Met)
|
rs749100112
|
|
|
NM_006440.5(TXNRD2):c.413C>T (p.Ser138Phe)
|
|
|
|
NM_006440.5(TXNRD2):c.41_42delinsTT (p.Arg14Leu)
|
rs2146120283
|
|
|
NM_006440.5(TXNRD2):c.428A>G (p.His143Arg)
|
|
|
|
NM_006440.5(TXNRD2):c.431G>A (p.Arg144His)
|
rs748674090
|
|
|
NM_006440.5(TXNRD2):c.431G>C (p.Arg144Pro)
|
rs748674090
|
|
|
NM_006440.5(TXNRD2):c.431G>T (p.Arg144Leu)
|
|
|
|
NM_006440.5(TXNRD2):c.43T>A (p.Phe15Ile)
|
|
|
|
NM_006440.5(TXNRD2):c.449+2T>G
|
|
|
|
NM_006440.5(TXNRD2):c.449+3A>G
|
rs754205571
|
|
|
NM_006440.5(TXNRD2):c.450-2A>G
|
|
|
|
NM_006440.5(TXNRD2):c.462C>G (p.Tyr154Ter)
|
rs182857388
|
|
|
NM_006440.5(TXNRD2):c.479G>A (p.Ser160Asn)
|
rs1255947483
|
|
|
NM_006440.5(TXNRD2):c.51G>C (p.Trp17Cys)
|
rs2146120227
|
|
|
NM_006440.5(TXNRD2):c.528+2T>C
|
rs775856560
|
|
|
NM_006440.5(TXNRD2):c.529-3_529-2del
|
|
|
|
NM_006440.5(TXNRD2):c.52C>T (p.Arg18Trp)
|
rs1060501404
|
|
|
NM_006440.5(TXNRD2):c.553A>G (p.Ile185Val)
|
|
|
|
NM_006440.5(TXNRD2):c.56C>T (p.Thr19Met)
|
|
|
|
NM_006440.5(TXNRD2):c.58C>T (p.Gln20Ter)
|
|
|
|
NM_006440.5(TXNRD2):c.591+1G>A
|
rs200610775
|
|
|
NM_006440.5(TXNRD2):c.591+4_591+5del
|
|
|
|
NM_006440.5(TXNRD2):c.592-2_602del
|
|
|
|
NM_006440.5(TXNRD2):c.593T>C (p.Ile198Thr)
|
|
|
|
NM_006440.5(TXNRD2):c.599G>A (p.Gly200Asp)
|
rs112854076
|
|
|
NM_006440.5(TXNRD2):c.59A>T (p.Gln20Leu)
|
|
|
|
NM_006440.5(TXNRD2):c.631A>G (p.Ile211Val)
|
|
|
|
NM_006440.5(TXNRD2):c.64G>A (p.Val22Met)
|
rs370819229
|
|
|
NM_006440.5(TXNRD2):c.64G>T (p.Val22Leu)
|
rs370819229
|
|
|
NM_006440.5(TXNRD2):c.650C>T (p.Ser217Phe)
|
|
|
|
NM_006440.5(TXNRD2):c.655G>C (p.Gly219Arg)
|
rs1940404247
|
|
|
NM_006440.5(TXNRD2):c.662+6G>A
|
rs887858049
|
|
|
NM_006440.5(TXNRD2):c.663-3C>T
|
rs778588418
|
|
|
NM_006440.5(TXNRD2):c.670G>T (p.Val224Phe)
|
|
|
|
NM_006440.5(TXNRD2):c.677C>T (p.Ala226Val)
|
|
|
|
NM_006440.5(TXNRD2):c.682+5C>G
|
|
|
|
NM_006440.5(TXNRD2):c.682+6C>A
|
|
|
|
NM_006440.5(TXNRD2):c.692T>C (p.Leu231Pro)
|
|
|
|
NM_006440.5(TXNRD2):c.704G>C (p.Gly235Ala)
|
rs1259831281
|
|
|
NM_006440.5(TXNRD2):c.70_76dup (p.Val26fs)
|
|
|
|
NM_006440.5(TXNRD2):c.722G>A (p.Gly241Glu)
|
|
|
|
NM_006440.5(TXNRD2):c.737T>C (p.Ile246Thr)
|
|
|
|
NM_006440.5(TXNRD2):c.751A>G (p.Ile251Val)
|
|
|
|
NM_006440.5(TXNRD2):c.754C>G (p.Pro252Ala)
|
|
|
|
NM_006440.5(TXNRD2):c.769G>A (p.Asp257Asn)
|
|
|
|
NM_006440.5(TXNRD2):c.774+6G>T
|
|
|
|
NM_006440.5(TXNRD2):c.775-1G>A
|
rs2145970512
|
|
|
NM_006440.5(TXNRD2):c.77T>C (p.Val26Ala)
|
rs925920723
|
|
|
NM_006440.5(TXNRD2):c.77_83dup (p.Ala30fs)
|
rs1162449700
|
|
|
NM_006440.5(TXNRD2):c.789G>A (p.Met263Ile)
|
rs1939469611
|
|
|
NM_006440.5(TXNRD2):c.812A>G (p.His271Arg)
|
|
|
|
NM_006440.5(TXNRD2):c.839C>T (p.Ala280Val)
|
rs2145970224
|
|
|
NM_006440.5(TXNRD2):c.83G>T (p.Gly28Val)
|
|
|
|
NM_006440.5(TXNRD2):c.848G>A (p.Arg283Gln)
|
|
|
|
NM_006440.5(TXNRD2):c.87_98del (p.27RGAA[1])
|
rs766448975
|
|
|
NM_006440.5(TXNRD2):c.87_98dup (p.27RGAA[3])
|
rs766448975
|
|
|
NM_006440.5(TXNRD2):c.8C>T (p.Ala3Val)
|
|
|
|
NM_006440.5(TXNRD2):c.90_101dup (p.27_30RGAA[3])
|
rs1008629337
|
|
|
NM_006440.5(TXNRD2):c.917C>G (p.Thr306Arg)
|
|
|
|
NM_006440.5(TXNRD2):c.92G>C (p.Arg31Pro)
|
|
|
|
NM_006440.5(TXNRD2):c.934G>A (p.Val312Ile)
|
|
|
|
NM_006440.5(TXNRD2):c.955G>A (p.Val319Ile)
|
|
|
|
NM_006440.5(TXNRD2):c.958C>T (p.Pro320Ser)
|
rs1938879786
|
|
|
NM_006440.5(TXNRD2):c.965C>G (p.Thr322Ser)
|
rs752178604
|
|
|
NM_006440.5(TXNRD2):c.967A>G (p.Arg323Gly)
|
|
|
|
NM_006440.5(TXNRD2):c.974T>C (p.Leu325Pro)
|
rs759476139
|
|
|
NM_006912.6(RIT1):c.10G>C (p.Gly4Arg)
|
rs2102591257
|
|
|
NM_006912.6(RIT1):c.112A>G (p.Thr38Ala)
|
rs1557962699
|
|
|
NM_006912.6(RIT1):c.116T>A (p.Met39Lys)
|
rs2102590945
|
|
|
NM_006912.6(RIT1):c.11G>A (p.Gly4Glu)
|
rs2102591253
|
|
|
NM_006912.6(RIT1):c.125T>C (p.Ile42Thr)
|
|
|
|
NM_006912.6(RIT1):c.128G>C (p.Ser43Thr)
|
|
|
|
NM_006912.6(RIT1):c.133C>G (p.Arg45Gly)
|
|
|
|
NM_006912.6(RIT1):c.134G>T (p.Arg45Leu)
|
rs1673569021
|
|
|
NM_006912.6(RIT1):c.139C>A (p.Pro47Thr)
|
|
|
|
NM_006912.6(RIT1):c.145G>C (p.Asp49His)
|
rs2102590904
|
|
|
NM_006912.6(RIT1):c.146A>T (p.Asp49Val)
|
|
|
|
NM_006912.6(RIT1):c.14C>T (p.Thr5Ile)
|
|
|
|
NM_006912.6(RIT1):c.151G>T (p.Asp51Tyr)
|
rs869025190
|
|
|
NM_006912.6(RIT1):c.153T>A (p.Asp51Glu)
|
|
|
|
NM_006912.6(RIT1):c.153T>G (p.Asp51Glu)
|
rs1571999275
|
|
|
NM_006912.6(RIT1):c.162T>A (p.Ile54=)
|
|
|
|
NM_006912.6(RIT1):c.163+5G>T
|
rs1673568021
|
|
|
NM_006912.6(RIT1):c.17G>C (p.Arg6Pro)
|
|
|
|
NM_006912.6(RIT1):c.206C>A (p.Ala69Asp)
|
|
|
|
NM_006912.6(RIT1):c.211C>G (p.Leu71Val)
|
|
|
|
NM_006912.6(RIT1):c.212_213del (p.Leu71fs)
|
|
|
|
NM_006912.6(RIT1):c.229_234dup (p.Ala77_Gly78dup)
|
rs1673399028
|
|
|
NM_006912.6(RIT1):c.22G>T (p.Val8Phe)
|
|
|
|
NM_006912.6(RIT1):c.233G>A (p.Gly78Glu)
|
rs1557960268
|
|
|
NM_006912.6(RIT1):c.238-2dup
|
rs1298539810
|
|
|
NM_006912.6(RIT1):c.23T>C (p.Val8Ala)
|
|
|
|
NM_006912.6(RIT1):c.253A>G (p.Met85Val)
|
|
|
|
NM_006912.6(RIT1):c.256C>T (p.Arg86Trp)
|
|
|
|
NM_006912.6(RIT1):c.274G>T (p.Ala92Ser)
|
|
|
|
NM_006912.6(RIT1):c.29G>C (p.Ser10Thr)
|
|
|
|
NM_006912.6(RIT1):c.304A>G (p.Ile102Val)
|
rs886041962
|
|
|
NM_006912.6(RIT1):c.309G>A (p.Thr103=)
|
rs370396152
|
|
|
NM_006912.6(RIT1):c.310G>A (p.Asp104Asn)
|
|
|
|
NM_006912.6(RIT1):c.313C>T (p.Arg105Cys)
|
|
|
|
NM_006912.6(RIT1):c.326A>T (p.His109Leu)
|
rs1407666045
|
|
|
NM_006912.6(RIT1):c.335G>A (p.Arg112His)
|
|
|
|
NM_006912.6(RIT1):c.338A>T (p.Glu113Val)
|
|
|
|
NM_006912.6(RIT1):c.340T>C (p.Phe114Leu)
|
|
|
|
NM_006912.6(RIT1):c.359G>A (p.Arg120Gln)
|
|
|
|
NM_006912.6(RIT1):c.374A>G (p.Asp125Gly)
|
|
|
|
NM_006912.6(RIT1):c.376G>A (p.Asp126Asn)
|
|
|
|
NM_006912.6(RIT1):c.379A>G (p.Thr127Ala)
|
|
|
|
NM_006912.6(RIT1):c.401A>G (p.Asn134Ser)
|
|
|
|
NM_006912.6(RIT1):c.413T>G (p.Leu138Arg)
|
|
|
|
NM_006912.6(RIT1):c.417A>T (p.Lys139Asn)
|
|
|
|
NM_006912.6(RIT1):c.433A>G (p.Thr145Ala)
|
|
|
|
NM_006912.6(RIT1):c.446G>C (p.Gly149Ala)
|
|
|
|
NM_006912.6(RIT1):c.470G>A (p.Ser157Asn)
|
|
|
|
NM_006912.6(RIT1):c.488C>T (p.Thr163Ile)
|
rs2102581107
|
|
|
NM_006912.6(RIT1):c.491C>G (p.Ser164Cys)
|
|
|
|
NM_006912.6(RIT1):c.4G>A (p.Asp2Asn)
|
rs924364497
|
|
|
NM_006912.6(RIT1):c.503G>A (p.Arg168His)
|
|
|
|
NM_006912.6(RIT1):c.505T>A (p.Tyr169Asn)
|
|
|
|
NM_006912.6(RIT1):c.509A>G (p.Tyr170Cys)
|
|
|
|
NM_006912.6(RIT1):c.50G>A (p.Gly17Glu)
|
|
|
|
NM_006912.6(RIT1):c.532C>G (p.Leu178Val)
|
rs730881013
|
|
|
NM_006912.6(RIT1):c.535G>A (p.Val179Ile)
|
|
|
|
NM_006912.6(RIT1):c.538C>T (p.Arg180Trp)
|
|
|
|
NM_006912.6(RIT1):c.546A>G (p.Ile182Met)
|
rs1673291260
|
|
|
NM_006912.6(RIT1):c.547C>T (p.Arg183Cys)
|
|
|
|
NM_006912.6(RIT1):c.550A>G (p.Arg184Gly)
|
|
|
|
NM_006912.6(RIT1):c.559A>C (p.Lys187Gln)
|
|
|
|
NM_006912.6(RIT1):c.561G>C (p.Lys187Asn)
|
|
|
|
NM_006912.6(RIT1):c.565G>A (p.Ala189Thr)
|
|
|
|
NM_006912.6(RIT1):c.566C>T (p.Ala189Val)
|
|
|
|
NM_006912.6(RIT1):c.572T>A (p.Leu191Gln)
|
|
|
|
NM_006912.6(RIT1):c.578T>C (p.Met193Thr)
|
|
|
|
NM_006912.6(RIT1):c.578T>G (p.Met193Arg)
|
|
|
|
NM_006912.6(RIT1):c.587A>C (p.Lys196Thr)
|
|
|
|
NM_006912.6(RIT1):c.588A>C (p.Lys196Asn)
|
|
|
|
NM_006912.6(RIT1):c.589T>C (p.Ser197Pro)
|
rs1673289658
|
|
|
NM_006912.6(RIT1):c.598A>C (p.Lys200Gln)
|
|
|
|
NM_006912.6(RIT1):c.602A>G (p.Asn201Ser)
|
|
|
|
NM_006912.6(RIT1):c.604_605del (p.Ser202fs)
|
|
|
|
NM_006912.6(RIT1):c.607G>A (p.Val203Ile)
|
|
|
|
NM_006912.6(RIT1):c.617G>A (p.Arg206Lys)
|
|
|
|
NM_006912.6(RIT1):c.617G>C (p.Arg206Thr)
|
|
|
|
NM_006912.6(RIT1):c.618G>C (p.Arg206Ser)
|
|
|
|
NM_006912.6(RIT1):c.634del (p.Arg212fs)
|
|
|
|
NM_006912.6(RIT1):c.638del (p.Lys213fs)
|
|
|
|
NM_006912.6(RIT1):c.644_647del (p.Lys215fs)
|
rs766063111
|
|
|
NM_006912.6(RIT1):c.645del (p.Asp216fs)
|
rs1673288090
|
|
|
NM_006912.6(RIT1):c.649del (p.Ser217fs)
|
rs1673287696
|
|
|
NM_006912.6(RIT1):c.650C>G (p.Ser217Ter)
|
|
|
|
NM_006912.6(RIT1):c.7T>G (p.Ser3Ala)
|
rs2102591265
|
|
|
NM_006939.4(SOS2):c.1001G>A (p.Arg334His)
|
|
|
|
NM_006939.4(SOS2):c.1009C>T (p.Leu337Phe)
|
rs1204583343
|
|
|
NM_006939.4(SOS2):c.1015C>T (p.Arg339Cys)
|
|
|
|
NM_006939.4(SOS2):c.1016G>A (p.Arg339His)
|
|
|
|
NM_006939.4(SOS2):c.1022T>C (p.Met341Thr)
|
|
|
|
NM_006939.4(SOS2):c.1042T>G (p.Cys348Gly)
|
rs1885462935
|
|
|
NM_006939.4(SOS2):c.1043G>C (p.Cys348Ser)
|
|
|
|
NM_006939.4(SOS2):c.1049A>G (p.His350Arg)
|
|
|
|
NM_006939.4(SOS2):c.1060T>G (p.Leu354Val)
|
|
|
|
NM_006939.4(SOS2):c.106C>G (p.Pro36Ala)
|
|
|
|
NM_006939.4(SOS2):c.1084A>G (p.Ser362Gly)
|
|
|
|
NM_006939.4(SOS2):c.1153A>G (p.Met385Val)
|
|
|
|
NM_006939.4(SOS2):c.1159C>A (p.Arg387=)
|
|
|
|
NM_006939.4(SOS2):c.115T>A (p.Ser39Thr)
|
rs2139796314
|
|
|
NM_006939.4(SOS2):c.1173G>T (p.Gln391His)
|
|
|
|
NM_006939.4(SOS2):c.1175A>G (p.Tyr392Cys)
|
rs1085307558
|
|
|
NM_006939.4(SOS2):c.1181C>T (p.Pro394Leu)
|
rs144332746
|
|
|
NM_006939.4(SOS2):c.1183A>T (p.Arg395Ter)
|
|
|
|
NM_006939.4(SOS2):c.1185A>C (p.Arg395Ser)
|
|
|
|
NM_006939.4(SOS2):c.1189C>G (p.Arg397Gly)
|
rs777771444
|
|
|
NM_006939.4(SOS2):c.1195G>C (p.Gly399Arg)
|
|
|
|
NM_006939.4(SOS2):c.1196+5T>C
|
|
|
|
NM_006939.4(SOS2):c.1217A>G (p.Tyr406Cys)
|
|
|
|
NM_006939.4(SOS2):c.122A>G (p.Asn41Ser)
|
|
|
|
NM_006939.4(SOS2):c.1230AAG[1] (p.Arg411del)
|
|
|
|
NM_006939.4(SOS2):c.1235G>T (p.Ser412Ile)
|
|
|
|
NM_006939.4(SOS2):c.1242C>A (p.His414Gln)
|
|
|
|
NM_006939.4(SOS2):c.1242C>G (p.His414Gln)
|
|
|
|
NM_006939.4(SOS2):c.1244T>G (p.Leu415Arg)
|
|
|
|
NM_006939.4(SOS2):c.1245_1248del (p.Ala416fs)
|
rs2139630042
|
|
|
NM_006939.4(SOS2):c.1249A>T (p.Ile417Phe)
|
|
|
|
NM_006939.4(SOS2):c.1251C>G (p.Ile417Met)
|
|
|
|
NM_006939.4(SOS2):c.1256A>G (p.Lys419Arg)
|
|
|
|
NM_006939.4(SOS2):c.1259T>C (p.Met420Thr)
|
|
|
|
NM_006939.4(SOS2):c.1265A>G (p.Glu422Gly)
|
|
|
|
NM_006939.4(SOS2):c.1266A>C (p.Glu422Asp)
|
rs755550719
|
|
|
NM_006939.4(SOS2):c.1285G>A (p.Gly429Arg)
|
|
|
|
NM_006939.4(SOS2):c.1300G>C (p.Asp434His)
|
rs2139629861
|
|
|
NM_006939.4(SOS2):c.1320T>A (p.Asn440Lys)
|
rs1884941722
|
|
|
NM_006939.4(SOS2):c.1325T>G (p.Phe442Cys)
|
|
|
|
NM_006939.4(SOS2):c.1326C>A (p.Phe442Leu)
|
|
|
|
NM_006939.4(SOS2):c.1327A>C (p.Ile443Leu)
|
|
|
|
NM_006939.4(SOS2):c.1331T>C (p.Met444Thr)
|
rs1884941577
|
|
|
NM_006939.4(SOS2):c.1337G>T (p.Gly446Val)
|
|
|
|
NM_006939.4(SOS2):c.1339C>A (p.Pro447Thr)
|
|
|
|
NM_006939.4(SOS2):c.133_136del (p.Leu45fs)
|
rs764257310
|
|
|
NM_006939.4(SOS2):c.1370G>A (p.Arg457Gln)
|
|
|
|
NM_006939.4(SOS2):c.1375A>G (p.Ile459Val)
|
rs886268693
|
|
|
NM_006939.4(SOS2):c.137A>C (p.Tyr46Ser)
|
rs1162838729
|
|
|
NM_006939.4(SOS2):c.137A>G (p.Tyr46Cys)
|
|
|
|
NM_006939.4(SOS2):c.1393T>G (p.Leu465Val)
|
|
|
|
NM_006939.4(SOS2):c.1403G>T (p.Ser468Ile)
|
|
|
|
NM_006939.4(SOS2):c.1411C>T (p.Pro471Ser)
|
rs1353990634
|
|
|
NM_006939.4(SOS2):c.1412C>G (p.Pro471Arg)
|
|
|
|
NM_006939.4(SOS2):c.1427C>T (p.Thr476Ile)
|
rs2139629330
|
|
|
NM_006939.4(SOS2):c.1429C>T (p.Arg477Trp)
|
rs1555370121
|
|
|
NM_006939.4(SOS2):c.1445G>T (p.Ser482Ile)
|
rs1195086721
|
|
|
NM_006939.4(SOS2):c.1463T>G (p.Leu488Ter)
|
|
|
|
NM_006939.4(SOS2):c.1474T>C (p.Phe492Leu)
|
|
|
|
NM_006939.4(SOS2):c.1480A>T (p.Met494Leu)
|
rs1884937684
|
|
|
NM_006939.4(SOS2):c.1492C>G (p.Gln498Glu)
|
|
|
|
NM_006939.4(SOS2):c.1516T>C (p.Cys506Arg)
|
|
|
|
NM_006939.4(SOS2):c.1517G>C (p.Cys506Ser)
|
|
|
|
NM_006939.4(SOS2):c.1532C>G (p.Ala511Gly)
|
|
|
|
NM_006939.4(SOS2):c.1537G>C (p.Glu513Gln)
|
|
|
|
NM_006939.4(SOS2):c.1544T>C (p.Val515Ala)
|
rs2139628968
|
|
|
NM_006939.4(SOS2):c.1550A>C (p.Lys517Thr)
|
rs367970301
|
|
|
NM_006939.4(SOS2):c.1560C>G (p.Asn520Lys)
|
|
|
|
NM_006939.4(SOS2):c.1564ATA[1] (p.Ile523del)
|
|
|
|
NM_006939.4(SOS2):c.1567A>G (p.Ile523Val)
|
rs1884934797
|
|
|
NM_006939.4(SOS2):c.1585G>C (p.Ala529Pro)
|
rs2139628740
|
|
|
NM_006939.4(SOS2):c.1586C>T (p.Ala529Val)
|
|
|
|
NM_006939.4(SOS2):c.1592A>G (p.Glu531Gly)
|
rs778331065
|
|
|
NM_006939.4(SOS2):c.1599C>A (p.Asn533Lys)
|
rs1484591662
|
|
|
NM_006939.4(SOS2):c.1606A>G (p.Met536Val)
|
|
|
|
NM_006939.4(SOS2):c.1609G>A (p.Ala537Thr)
|
|
|
|
NM_006939.4(SOS2):c.1610C>T (p.Ala537Val)
|
|
|
|
NM_006939.4(SOS2):c.1612G>A (p.Ala538Thr)
|
|
|
|
NM_006939.4(SOS2):c.1634G>A (p.Arg545His)
|
|
|
|
NM_006939.4(SOS2):c.1642C>A (p.Leu548Ile)
|
|
|
|
NM_006939.4(SOS2):c.1649G>A (p.Arg550Gln)
|
|
|
|
NM_006939.4(SOS2):c.1661C>T (p.Ser554Leu)
|
rs763829729
|
|
|
NM_006939.4(SOS2):c.166C>T (p.Leu56Phe)
|
|
|
|
NM_006939.4(SOS2):c.1682A>T (p.Asn561Ile)
|
|
|
|
NM_006939.4(SOS2):c.1698A>T (p.Arg566Ser)
|
|
|
|
NM_006939.4(SOS2):c.1705A>G (p.Ser569Gly)
|
|
|
|
NM_006939.4(SOS2):c.1708C>T (p.Pro570Ser)
|
|
|
|
NM_006939.4(SOS2):c.1711G>A (p.Glu571Lys)
|
|
|
|
NM_006939.4(SOS2):c.1721G>A (p.Arg574His)
|
|
|
|
NM_006939.4(SOS2):c.1726G>A (p.Val576Ile)
|
|
|
|
NM_006939.4(SOS2):c.1727T>G (p.Val576Gly)
|
|
|
|
NM_006939.4(SOS2):c.172A>G (p.Lys58Glu)
|
rs2139796115
|
|
|
NM_006939.4(SOS2):c.1734del (p.Asp579fs)
|
rs2139628200
|
|
|
NM_006939.4(SOS2):c.1740_1741del (p.Glu581fs)
|
|
|
|
NM_006939.4(SOS2):c.1775G>C (p.Ser592Thr)
|
|
|
|
NM_006939.4(SOS2):c.1781G>T (p.Ser594Ile)
|
|
|
|
NM_006939.4(SOS2):c.1786A>G (p.Ile596Val)
|
|
|
|
NM_006939.4(SOS2):c.1788C>G (p.Ile596Met)
|
rs2139627990
|
|
|
NM_006939.4(SOS2):c.1810G>T (p.Val604Leu)
|
rs769210427
|
|
|
NM_006939.4(SOS2):c.1811T>C (p.Val604Ala)
|
|
|
|
NM_006939.4(SOS2):c.181A>G (p.Met61Val)
|
rs774761716
|
|
|
NM_006939.4(SOS2):c.1832T>C (p.Leu611Ser)
|
|
|
|
NM_006939.4(SOS2):c.1838A>G (p.Tyr613Cys)
|
|
|
|
NM_006939.4(SOS2):c.1852+2T>C
|
|
|
|
NM_006939.4(SOS2):c.1852+3A>G
|
rs758436817
|
|
|
NM_006939.4(SOS2):c.1852+4T>C
|
|
|
|
NM_006939.4(SOS2):c.1852+6T>C
|
|
|
|
NM_006939.4(SOS2):c.185C>T (p.Ala62Val)
|
rs1886594687
|
|
|
NM_006939.4(SOS2):c.1867C>T (p.Arg623Cys)
|
|
|
|
NM_006939.4(SOS2):c.1888C>T (p.Arg630Cys)
|
|
|
|
NM_006939.4(SOS2):c.1900A>G (p.Lys634Glu)
|
rs1884893175
|
|
|
NM_006939.4(SOS2):c.1915C>A (p.Leu639Met)
|
|
|
|
NM_006939.4(SOS2):c.1934+1G>A
|
|
|
|
NM_006939.4(SOS2):c.1934+6A>C
|
|
|
|
NM_006939.4(SOS2):c.1934G>T (p.Arg645Leu)
|
|
|
|
NM_006939.4(SOS2):c.1939G>A (p.Glu647Lys)
|
|
|
|
NM_006939.4(SOS2):c.1952C>G (p.Pro651Arg)
|
|
|
|
NM_006939.4(SOS2):c.1957C>T (p.Pro653Ser)
|
|
|
|
NM_006939.4(SOS2):c.1966G>T (p.Ala656Ser)
|
|
|
|
NM_006939.4(SOS2):c.19C>A (p.Pro7Thr)
|
|
|
|
NM_006939.4(SOS2):c.1_20dup (p.Tyr8fs)
|
|
|
|
NM_006939.4(SOS2):c.2000C>T (p.Pro667Leu)
|
|
|
|
NM_006939.4(SOS2):c.2021G>A (p.Arg674Lys)
|
rs371205081
|
|
|
NM_006939.4(SOS2):c.2026C>T (p.Arg676Cys)
|
|
|
|
NM_006939.4(SOS2):c.2027G>T (p.Arg676Leu)
|
|
|
|
NM_006939.4(SOS2):c.2039T>C (p.Val680Ala)
|
|
|
|
NM_006939.4(SOS2):c.2045C>T (p.Pro682Leu)
|
|
|
|
NM_006939.4(SOS2):c.2047G>A (p.Val683Ile)
|
rs1884843220
|
|
|
NM_006939.4(SOS2):c.205G>A (p.Asp69Asn)
|
|
|
|
NM_006939.4(SOS2):c.2104T>C (p.Phe702Leu)
|
rs2139604459
|
|
|
NM_006939.4(SOS2):c.2113G>T (p.Asp705Tyr)
|
rs1057518079
|
|
|
NM_006939.4(SOS2):c.2128G>C (p.Glu710Gln)
|
rs768829374
|
|
|
NM_006939.4(SOS2):c.2148T>G (p.Ile716Met)
|
|
|
|
NM_006939.4(SOS2):c.2161+7_2161+11del
|
|
|
|
NM_006939.4(SOS2):c.2166A>T (p.Lys722Asn)
|
rs769787486
|
|
|
NM_006939.4(SOS2):c.2168C>T (p.Ala723Val)
|
rs1566827698
|
|
|
NM_006939.4(SOS2):c.2180G>T (p.Trp727Leu)
|
|
|
|
NM_006939.4(SOS2):c.2182G>A (p.Val728Ile)
|
rs2139595594
|
|
|
NM_006939.4(SOS2):c.2193T>G (p.Ile731Met)
|
|
|
|
NM_006939.4(SOS2):c.220G>A (p.Val74Ile)
|
rs1886470934
|
|
|
NM_006939.4(SOS2):c.2217G>T (p.Lys739Asn)
|
rs186110427
|
|
|
NM_006939.4(SOS2):c.2221G>A (p.Ala741Thr)
|
rs1594973893
|
|
|
NM_006939.4(SOS2):c.2231_2232inv (p.Asn744Ser)
|
|
|
|
NM_006939.4(SOS2):c.2236G>A (p.Val746Ile)
|
|
|
|
NM_006939.4(SOS2):c.223C>G (p.Gln75Glu)
|
|
|
|
NM_006939.4(SOS2):c.2240G>A (p.Ser747Asn)
|
|
|
|
NM_006939.4(SOS2):c.2241C>T (p.Ser747=)
|
|
|
|
NM_006939.4(SOS2):c.2249T>G (p.Ile750Ser)
|
|
|
|
NM_006939.4(SOS2):c.224A>G (p.Gln75Arg)
|
rs2139783861
|
|
|
NM_006939.4(SOS2):c.2272C>G (p.Pro758Ala)
|
|
|
|
NM_006939.4(SOS2):c.2284C>A (p.His762Asn)
|
|
|
|
NM_006939.4(SOS2):c.2290A>C (p.Ser764Arg)
|
|
|
|
NM_006939.4(SOS2):c.2304G>T (p.Gln768His)
|
rs778281839
|
|
|
NM_006939.4(SOS2):c.2307T>A (p.Phe769Leu)
|
|
|
|
NM_006939.4(SOS2):c.2316T>G (p.Phe772Leu)
|
rs2139594970
|
|
|
NM_006939.4(SOS2):c.2318A>C (p.Asp773Ala)
|
rs1884612400
|
|
|
NM_006939.4(SOS2):c.2320C>G (p.Leu774Val)
|
|
|
|
NM_006939.4(SOS2):c.2345T>C (p.Ile782Thr)
|
|
|
|
NM_006939.4(SOS2):c.2347G>C (p.Ala783Pro)
|
|
|
|
NM_006939.4(SOS2):c.2348C>T (p.Ala783Val)
|
|
|
|
NM_006939.4(SOS2):c.2351G>A (p.Arg784His)
|
|
|
|
NM_006939.4(SOS2):c.2354A>G (p.Gln785Arg)
|
|
|
|
NM_006939.4(SOS2):c.2359A>C (p.Thr787Pro)
|
|
|
|
NM_006939.4(SOS2):c.2362C>G (p.Leu788Val)
|
rs771681478
|
|
|
NM_006939.4(SOS2):c.2369A>G (p.Glu790Gly)
|
|
|
|
NM_006939.4(SOS2):c.2384+18A>G
|
|
|
|
NM_006939.4(SOS2):c.2413A>G (p.Ser805Gly)
|
|
|
|
NM_006939.4(SOS2):c.2414G>A (p.Ser805Asn)
|
|
|
|
NM_006939.4(SOS2):c.2435A>G (p.Lys812Arg)
|
|
|
|
NM_006939.4(SOS2):c.2453A>G (p.Asn818Ser)
|
|
|
|
NM_006939.4(SOS2):c.2466G>A (p.Met822Ile)
|
|
|
|
NM_006939.4(SOS2):c.2485C>T (p.Leu829Phe)
|
|
|
|
NM_006939.4(SOS2):c.2505A>G (p.Lys835=)
|
|
|
|
NM_006939.4(SOS2):c.2509A>G (p.Ile837Val)
|
rs1469543967
|
|
|
NM_006939.4(SOS2):c.2531A>C (p.Glu844Ala)
|
|
|
|
NM_006939.4(SOS2):c.2539G>T (p.Val847Leu)
|
|
|
|
NM_006939.4(SOS2):c.2551A>C (p.Ser851Arg)
|
|
|
|
NM_006939.4(SOS2):c.2561T>C (p.Ile854Thr)
|
|
|
|
NM_006939.4(SOS2):c.2562A>G (p.Ile854Met)
|
|
|
|
NM_006939.4(SOS2):c.2569C>G (p.Leu857Val)
|
|
|
|
NM_006939.4(SOS2):c.2572C>A (p.Gln858Lys)
|
|
|
|
NM_006939.4(SOS2):c.2585A>G (p.Asp862Gly)
|
|
|
|
NM_006939.4(SOS2):c.263C>T (p.Ala88Val)
|
|
|
|
NM_006939.4(SOS2):c.2654A>G (p.Asp885Gly)
|
|
|
|
NM_006939.4(SOS2):c.2667G>T (p.Glu889Asp)
|
|
|
|
NM_006939.4(SOS2):c.2668-4del
|
rs2139556831
|
|
|
NM_006939.4(SOS2):c.2668G>A (p.Ala890Thr)
|
|
|
|
NM_006939.4(SOS2):c.2672T>A (p.Leu891Gln)
|
|
|
|
NM_006939.4(SOS2):c.2707G>C (p.Val903Leu)
|
|
|
|
NM_006939.4(SOS2):c.2711A>G (p.Glu904Gly)
|
|
|
|
NM_006939.4(SOS2):c.2723A>G (p.Asp908Gly)
|
|
|
|
NM_006939.4(SOS2):c.272A>C (p.Gln91Pro)
|
|
|
|
NM_006939.4(SOS2):c.2735A>G (p.Lys912Arg)
|
|
|
|
NM_006939.4(SOS2):c.2741T>A (p.Leu914Gln)
|
|
|
|
NM_006939.4(SOS2):c.2754_2758del (p.Lys918fs)
|
|
|
|
NM_006939.4(SOS2):c.2756C>T (p.Ser919Leu)
|
|
|
|
NM_006939.4(SOS2):c.2762A>G (p.Asn921Ser)
|
|
|
|
NM_006939.4(SOS2):c.2774T>C (p.Val925Ala)
|
|
|
|
NM_006939.4(SOS2):c.2784T>A (p.Phe928Leu)
|
|
|
|
NM_006939.4(SOS2):c.2785+18_2785+19delinsTT
|
|
|
|
NM_006939.4(SOS2):c.2786-1G>A
|
|
|
|
NM_006939.4(SOS2):c.280A>G (p.Ile94Val)
|
|
|
|
NM_006939.4(SOS2):c.2815G>A (p.Glu939Lys)
|
|
|
|
NM_006939.4(SOS2):c.2838A>T (p.Leu946Phe)
|
|
|
|
NM_006939.4(SOS2):c.2857T>A (p.Leu953Ile)
|
|
|
|
NM_006939.4(SOS2):c.2864A>G (p.Asn955Ser)
|
|
|
|
NM_006939.4(SOS2):c.290G>A (p.Arg97Gln)
|
rs777574895
|
|
|
NM_006939.4(SOS2):c.2919G>C (p.Gln973His)
|
rs1884164664
|
|
|
NM_006939.4(SOS2):c.2939G>A (p.Arg980Gln)
|
rs2139550610
|
|
|
NM_006939.4(SOS2):c.2953A>G (p.Met985Val)
|
|
|
|
NM_006939.4(SOS2):c.2954T>C (p.Met985Thr)
|
rs2139550560
|
|
|
NM_006939.4(SOS2):c.2967del (p.Phe989fs)
|
|
|
|
NM_006939.4(SOS2):c.296G>A (p.Arg99Gln)
|
rs369592322
|
|
|
NM_006939.4(SOS2):c.2973C>G (p.Asn991Lys)
|
rs1883999905
|
|
|
NM_006939.4(SOS2):c.2974C>T (p.Leu992Phe)
|
|
|
|
NM_006939.4(SOS2):c.2979C>G (p.Asn993Lys)
|
rs768403750
|
|
|
NM_006939.4(SOS2):c.2980C>G (p.Pro994Ala)
|
rs1883999639
|
|
|
NM_006939.4(SOS2):c.2981C>G (p.Pro994Arg)
|
rs1883999558
|
|
|
NM_006939.4(SOS2):c.2983A>G (p.Met995Val)
|
rs933544183
|
|
|
NM_006939.4(SOS2):c.2986G>A (p.Gly996Arg)
|
rs780598157
|
|
|
NM_006939.4(SOS2):c.2989A>G (p.Ser997Gly)
|
|
|
|
NM_006939.4(SOS2):c.2990G>T (p.Ser997Ile)
|
|
|
|
NM_006939.4(SOS2):c.2992G>A (p.Ala998Thr)
|
|
|
|
NM_006939.4(SOS2):c.2996C>A (p.Ser999Tyr)
|
|
|
|
NM_006939.4(SOS2):c.2T>C (p.Met1Thr)
|
|
|
|
NM_006939.4(SOS2):c.3002A>G (p.Lys1001Arg)
|
|
|
|
NM_006939.4(SOS2):c.3016T>C (p.Tyr1006His)
|
|
|
|
NM_006939.4(SOS2):c.3023del (p.Phe1008fs)
|
rs2139528773
|
|
|
NM_006939.4(SOS2):c.3027C>G (p.Asn1009Lys)
|
|
|
|
NM_006939.4(SOS2):c.3028A>G (p.Lys1010Glu)
|
rs181284424
|
|
|
NM_006939.4(SOS2):c.3042T>G (p.Ile1014Met)
|
rs1447097552
|
|
|
NM_006939.4(SOS2):c.3047C>G (p.Pro1016Arg)
|
|
|
|
NM_006939.4(SOS2):c.304C>T (p.Pro102Ser)
|
rs2139783538
|
|
|
NM_006939.4(SOS2):c.3055T>C (p.Cys1019Arg)
|
|
|
|
NM_006939.4(SOS2):c.3064C>A (p.Pro1022Thr)
|
rs2139528591
|
|
|
NM_006939.4(SOS2):c.3067C>T (p.Pro1023Ser)
|
rs1287471667
|
|
|
NM_006939.4(SOS2):c.3077C>T (p.Pro1026Leu)
|
rs2139513281
|
|
|
NM_006939.4(SOS2):c.3080G>A (p.Arg1027Lys)
|
|
|
|
NM_006939.4(SOS2):c.3089C>G (p.Thr1030Ser)
|
|
|
|
NM_006939.4(SOS2):c.3102dup (p.Ser1035fs)
|
|
|
|
NM_006939.4(SOS2):c.3107C>G (p.Pro1036Arg)
|
|
|
|
NM_006939.4(SOS2):c.3114A>G (p.Ile1038Met)
|
rs1883841371
|
|
|
NM_006939.4(SOS2):c.3116G>A (p.Arg1039Lys)
|
|
|
|
NM_006939.4(SOS2):c.3142A>T (p.Thr1048Ser)
|
|
|
|
NM_006939.4(SOS2):c.3145T>C (p.Ser1049Pro)
|
rs2139513028
|
|
|
NM_006939.4(SOS2):c.3152C>T (p.Thr1051Ile)
|
|
|
|
NM_006939.4(SOS2):c.3165C>A (p.His1055Gln)
|
|
|
|
NM_006939.4(SOS2):c.3172C>T (p.Pro1058Ser)
|
rs753668226
|
|
|
NM_006939.4(SOS2):c.3173C>G (p.Pro1058Arg)
|
|
|
|
NM_006939.4(SOS2):c.3173C>T (p.Pro1058Leu)
|
|
|
|
NM_006939.4(SOS2):c.3190T>A (p.Cys1064Ser)
|
|
|
|
NM_006939.4(SOS2):c.3190T>C (p.Cys1064Arg)
|
rs1224696199
|
|
|
NM_006939.4(SOS2):c.3194A>C (p.Lys1065Thr)
|
rs1286858047
|
|
|
NM_006939.4(SOS2):c.3195A>C (p.Lys1065Asn)
|
rs2139512774
|
|
|
NM_006939.4(SOS2):c.3208C>T (p.Arg1070Trp)
|
|
|
|
NM_006939.4(SOS2):c.3209G>A (p.Arg1070Gln)
|
|
|
|
NM_006939.4(SOS2):c.3247C>T (p.Pro1083Ser)
|
|
|
|
NM_006939.4(SOS2):c.3250A>C (p.Thr1084Pro)
|
|
|
|
NM_006939.4(SOS2):c.3251C>T (p.Thr1084Ile)
|
|
|
|
NM_006939.4(SOS2):c.3256C>T (p.Pro1086Ser)
|
|
|
|
NM_006939.4(SOS2):c.3260A>G (p.Asn1087Ser)
|
|
|
|
NM_006939.4(SOS2):c.3263C>T (p.Thr1088Ile)
|
|
|
|
NM_006939.4(SOS2):c.3271A>T (p.Thr1091Ser)
|
rs1210330980
|
|
|
NM_006939.4(SOS2):c.3284C>G (p.Ser1095Cys)
|
|
|
|
NM_006939.4(SOS2):c.3286G>A (p.Ala1096Thr)
|
|
|
|
NM_006939.4(SOS2):c.3295G>C (p.Asp1099His)
|
|
|
|
NM_006939.4(SOS2):c.3301A>C (p.Ser1101Arg)
|
|
|
|
NM_006939.4(SOS2):c.3313G>A (p.Asp1105Asn)
|
|
|
|
NM_006939.4(SOS2):c.3332C>T (p.Ser1111Phe)
|
|
|
|
NM_006939.4(SOS2):c.3337+4A>G
|
rs924531063
|
|
|
NM_006939.4(SOS2):c.3341G>A (p.Ser1114Asn)
|
|
|
|
NM_006939.4(SOS2):c.3344A>G (p.Asn1115Ser)
|
|
|
|
NM_006939.4(SOS2):c.3358C>T (p.Pro1120Ser)
|
|
|
|
NM_006939.4(SOS2):c.3379+4_3379+7del
|
rs2139510043
|
|
|
NM_006939.4(SOS2):c.3379+6T>C
|
rs2139510050
|
|
|
NM_006939.4(SOS2):c.3383C>G (p.Ser1128Cys)
|
rs1566815476
|
|
|
NM_006939.4(SOS2):c.3392G>A (p.Ser1131Asn)
|
|
|
|
NM_006939.4(SOS2):c.3395C>T (p.Ser1132Leu)
|
rs2139472231
|
|
|
NM_006939.4(SOS2):c.33del (p.Phe11fs)
|
|
|
|
NM_006939.4(SOS2):c.3408A>T (p.Leu1136Phe)
|
|
|
|
NM_006939.4(SOS2):c.3410A>G (p.His1137Arg)
|
|
|
|
NM_006939.4(SOS2):c.3416T>G (p.Leu1139Arg)
|
|
|
|
NM_006939.4(SOS2):c.3443C>G (p.Pro1148Arg)
|
rs1375287247
|
|
|
NM_006939.4(SOS2):c.3443_3454del (p.Pro1148_Pro1151del)
|
rs777487865
|
|
|
NM_006939.4(SOS2):c.344A>G (p.Lys115Arg)
|
|
|
|
NM_006939.4(SOS2):c.345+3A>G
|
|
|
|
NM_006939.4(SOS2):c.345+5C>T
|
|
|
|
NM_006939.4(SOS2):c.345+6A>G
|
rs2139783376
|
|
|
NM_006939.4(SOS2):c.3452C>G (p.Pro1151Arg)
|
|
|
|
NM_006939.4(SOS2):c.3463T>A (p.Phe1155Ile)
|
|
|
|
NM_006939.4(SOS2):c.3468T>A (p.Asp1156Glu)
|
|
|
|
NM_006939.4(SOS2):c.3489+4dup
|
|
|
|
NM_006939.4(SOS2):c.3490-2dup
|
rs2139465845
|
|
|
NM_006939.4(SOS2):c.3506A>T (p.Asp1169Val)
|
|
|
|
NM_006939.4(SOS2):c.3526C>A (p.Pro1176Thr)
|
|
|
|
NM_006939.4(SOS2):c.3530C>T (p.Pro1177Leu)
|
rs1566814839
|
|
|
NM_006939.4(SOS2):c.3544C>A (p.Pro1182Thr)
|
|
|
|
NM_006939.4(SOS2):c.3544C>T (p.Pro1182Ser)
|
|
|
|
NM_006939.4(SOS2):c.3560C>T (p.Pro1187Leu)
|
rs1594951526
|
|
|
NM_006939.4(SOS2):c.3571G>T (p.Val1191Phe)
|
rs934357386
|
|
|
NM_006939.4(SOS2):c.3574C>T (p.Pro1192Ser)
|
|
|
|
NM_006939.4(SOS2):c.3578C>T (p.Thr1193Ile)
|
|
|
|
NM_006939.4(SOS2):c.3583G>A (p.Ala1195Thr)
|
|
|
|
NM_006939.4(SOS2):c.3593G>C (p.Gly1198Ala)
|
rs2139465314
|
|
|
NM_006939.4(SOS2):c.3613C>A (p.Pro1205Thr)
|
|
|
|
NM_006939.4(SOS2):c.3619_3620delinsGT (p.Pro1207Val)
|
|
|
|
NM_006939.4(SOS2):c.3621_3632del (p.Pro1208_Pro1211del)
|
|
|
|
NM_006939.4(SOS2):c.3631C>G (p.Pro1211Ala)
|
|
|
|
NM_006939.4(SOS2):c.3637_3693dup (p.Pro1231_Phe1232insProAspThrProProProValProLeuArgProProGluHisPheIleAsnCysPro)
|
|
|
|
NM_006939.4(SOS2):c.3638C>G (p.Pro1213Arg)
|
|
|
|
NM_006939.4(SOS2):c.3655G>A (p.Val1219Ile)
|
|
|
|
NM_006939.4(SOS2):c.3664C>T (p.Arg1222Trp)
|
|
|
|
NM_006939.4(SOS2):c.3665G>C (p.Arg1222Pro)
|
|
|
|
NM_006939.4(SOS2):c.3665G>T (p.Arg1222Leu)
|
|
|
|
NM_006939.4(SOS2):c.3671C>T (p.Pro1224Leu)
|
rs1883396353
|
|
|
NM_006939.4(SOS2):c.3677A>G (p.His1226Arg)
|
|
|
|
NM_006939.4(SOS2):c.3681T>A (p.Phe1227Leu)
|
|
|
|
NM_006939.4(SOS2):c.3700C>G (p.Leu1234Val)
|
|
|
|
NM_006939.4(SOS2):c.3707C>T (p.Pro1236Leu)
|
rs1403796339
|
|
|
NM_006939.4(SOS2):c.3719G>C (p.Gly1240Ala)
|
|
|
|
NM_006939.4(SOS2):c.3721C>T (p.His1241Tyr)
|
|
|
|
NM_006939.4(SOS2):c.3741C>G (p.Asp1247Glu)
|
rs1883393016
|
|
|
NM_006939.4(SOS2):c.374A>G (p.His125Arg)
|
|
|
|
NM_006939.4(SOS2):c.3756T>G (p.Ile1252Met)
|
|
|
|
NM_006939.4(SOS2):c.3767C>A (p.Pro1256Gln)
|
|
|
|
NM_006939.4(SOS2):c.3781A>C (p.Thr1261Pro)
|
rs1555367637
|
|
|
NM_006939.4(SOS2):c.3785C>T (p.Pro1262Leu)
|
rs2139464111
|
|
|
NM_006939.4(SOS2):c.3794C>T (p.Thr1265Ile)
|
rs2139464050
|
|
|
NM_006939.4(SOS2):c.3797C>T (p.Pro1266Leu)
|
rs2139464021
|
|
|
NM_006939.4(SOS2):c.3800C>T (p.Ser1267Phe)
|
|
|
|
NM_006939.4(SOS2):c.3808G>A (p.Val1270Ile)
|
|
|
|
NM_006939.4(SOS2):c.3814C>A (p.Arg1272Ser)
|
rs1005498417
|
|
|
NM_006939.4(SOS2):c.3817C>T (p.Arg1273Ter)
|
|
|
|
NM_006939.4(SOS2):c.3832A>G (p.Ser1278Gly)
|
|
|
|
NM_006939.4(SOS2):c.3842A>G (p.Gln1281Arg)
|
|
|
|
NM_006939.4(SOS2):c.3850C>G (p.Leu1284Val)
|
|
|
|
NM_006939.4(SOS2):c.3862C>T (p.Pro1288Ser)
|
|
|
|
NM_006939.4(SOS2):c.3869C>A (p.Pro1290His)
|
rs1244881868
|
|
|
NM_006939.4(SOS2):c.3872_3873del (p.Pro1291fs)
|
|
|
|
NM_006939.4(SOS2):c.3898C>T (p.Pro1300Ser)
|
|
|
|
NM_006939.4(SOS2):c.390T>G (p.Ile130Met)
|
rs1886426829
|
|
|
NM_006939.4(SOS2):c.3920del (p.Pro1307fs)
|
|
|
|
NM_006939.4(SOS2):c.3930C>G (p.Tyr1310Ter)
|
rs1214781595
|
|
|
NM_006939.4(SOS2):c.3934C>T (p.Arg1312Trp)
|
|
|
|
NM_006939.4(SOS2):c.3952C>A (p.Pro1318Thr)
|
|
|
|
NM_006939.4(SOS2):c.3953C>A (p.Pro1318Gln)
|
|
|
|
NM_006939.4(SOS2):c.3957G>T (p.Leu1319Phe)
|
rs2139462748
|
|
|
NM_006939.4(SOS2):c.3958T>C (p.Tyr1320His)
|
rs950322034
|
|
|
NM_006939.4(SOS2):c.395C>T (p.Ala132Val)
|
|
|
|
NM_006939.4(SOS2):c.3968C>T (p.Pro1323Leu)
|
rs886041929
|
|
|
NM_006939.4(SOS2):c.3980del (p.Asn1327fs)
|
|
|
|
NM_006939.4(SOS2):c.3997T>C (p.Ter1333Arg)
|
|
|
|
NM_006939.4(SOS2):c.42G>T (p.Glu14Asp)
|
|
|
|
NM_006939.4(SOS2):c.431T>A (p.Leu144Ter)
|
|
|
|
NM_006939.4(SOS2):c.439A>G (p.Asn147Asp)
|
|
|
|
NM_006939.4(SOS2):c.449T>C (p.Phe150Ser)
|
rs1886424881
|
|
|
NM_006939.4(SOS2):c.460C>A (p.His154Asn)
|
|
|
|
NM_006939.4(SOS2):c.462T>G (p.His154Gln)
|
|
|
|
NM_006939.4(SOS2):c.468A>C (p.Glu156Asp)
|
|
|
|
NM_006939.4(SOS2):c.472T>C (p.Ser158Pro)
|
|
|
|
NM_006939.4(SOS2):c.476A>G (p.Gln159Arg)
|
|
|
|
NM_006939.4(SOS2):c.490G>A (p.Val164Met)
|
|
|
|
NM_006939.4(SOS2):c.49C>T (p.Pro17Ser)
|
rs750929787
|
|
|
NM_006939.4(SOS2):c.502G>A (p.Ala168Thr)
|
rs2139778845
|
|
|
NM_006939.4(SOS2):c.503C>T (p.Ala168Val)
|
|
|
|
NM_006939.4(SOS2):c.507T>A (p.Asp169Glu)
|
|
|
|
NM_006939.4(SOS2):c.510+3_510+6del
|
|
|
|
NM_006939.4(SOS2):c.511G>A (p.Val171Ile)
|
|
|
|
NM_006939.4(SOS2):c.516G>C (p.Leu172Phe)
|
rs561507728
|
|
|
NM_006939.4(SOS2):c.521A>G (p.Asp174Gly)
|
rs2139734704
|
|
|
NM_006939.4(SOS2):c.523A>C (p.Met175Leu)
|
rs1336823806
|
|
|
NM_006939.4(SOS2):c.523A>G (p.Met175Val)
|
|
|
|
NM_006939.4(SOS2):c.530A>G (p.Asp177Gly)
|
|
|
|
NM_006939.4(SOS2):c.534G>T (p.Gln178His)
|
rs2139734609
|
|
|
NM_006939.4(SOS2):c.541A>C (p.Ile181Leu)
|
|
|
|
NM_006939.4(SOS2):c.541A>G (p.Ile181Val)
|
|
|
|
NM_006939.4(SOS2):c.541A>T (p.Ile181Leu)
|
|
|
|
NM_006939.4(SOS2):c.542T>C (p.Ile181Thr)
|
rs1886006429
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NM_006939.4(SOS2):c.545G>T (p.Gly182Val)
|
rs149487643
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NM_006939.4(SOS2):c.549G>T (p.Leu183Phe)
|
rs137961578
|
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NM_006939.4(SOS2):c.551T>C (p.Val184Ala)
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|
NM_006939.4(SOS2):c.556C>G (p.Leu186Val)
|
rs2139734457
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NM_006939.4(SOS2):c.561T>G (p.Cys187Trp)
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|
NM_006939.4(SOS2):c.563A>G (p.Glu188Gly)
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|
NM_006939.4(SOS2):c.572C>A (p.Pro191His)
|
rs72681869
|
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NM_006939.4(SOS2):c.574A>C (p.Ser192Arg)
|
rs1886005265
|
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NM_006939.4(SOS2):c.577TCT[1] (p.Ser194del)
|
rs769352438
|
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NM_006939.4(SOS2):c.583G>A (p.Gly195Ser)
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NM_006939.4(SOS2):c.584G>C (p.Gly195Ala)
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NM_006939.4(SOS2):c.586G>C (p.Glu196Gln)
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NM_006939.4(SOS2):c.662T>C (p.Ile221Thr)
|
rs2139733977
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NM_006939.4(SOS2):c.674G>T (p.Arg225Leu)
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NM_006939.4(SOS2):c.69G>C (p.Leu23Phe)
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NM_006939.4(SOS2):c.710del (p.Pro237fs)
|
rs2139733738
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NM_006939.4(SOS2):c.714+1G>A
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NM_006939.4(SOS2):c.715-12_715-8del
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NM_006939.4(SOS2):c.715-18_715-17inv
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NM_006939.4(SOS2):c.715-3C>T
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NM_006939.4(SOS2):c.715G>A (p.Asp239Asn)
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NM_006939.4(SOS2):c.718A>G (p.Ile240Val)
|
rs1885779266
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NM_006939.4(SOS2):c.726G>T (p.Lys242Asn)
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NM_006939.4(SOS2):c.762T>A (p.Thr254=)
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NM_006939.4(SOS2):c.772T>G (p.Leu258Val)
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NM_006939.4(SOS2):c.775G>A (p.Gly259Ser)
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NM_006939.4(SOS2):c.803C>T (p.Thr268Ile)
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NM_006939.4(SOS2):c.806A>G (p.Asp269Gly)
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NM_006939.4(SOS2):c.817C>G (p.Pro273Ala)
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NM_006939.4(SOS2):c.835A>C (p.Ser279Arg)
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NM_006939.4(SOS2):c.838T>C (p.Cys280Arg)
|
rs2139709714
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NM_006939.4(SOS2):c.83G>A (p.Arg28Gln)
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NM_006939.4(SOS2):c.842T>C (p.Phe281Ser)
|
rs1555371627
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NM_006939.4(SOS2):c.858+5G>C
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NM_006939.4(SOS2):c.892C>T (p.Gln298Ter)
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NM_006939.4(SOS2):c.898A>G (p.Ile300Val)
|
rs1248787575
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NM_006939.4(SOS2):c.907C>T (p.Pro303Ser)
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NM_006939.4(SOS2):c.908C>T (p.Pro303Leu)
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NM_006939.4(SOS2):c.932A>C (p.Lys311Thr)
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NM_006939.4(SOS2):c.940G>A (p.Ala314Thr)
|
rs1885702958
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NM_006939.4(SOS2):c.944G>A (p.Arg315Lys)
|
rs2139702139
|
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NM_006939.4(SOS2):c.949G>A (p.Ala317Thr)
|
rs2139702095
|
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NM_006939.4(SOS2):c.955G>A (p.Ala319Thr)
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NM_006939.4(SOS2):c.956C>T (p.Ala319Val)
|
rs1329480973
|
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NM_006939.4(SOS2):c.961C>T (p.His321Tyr)
|
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|
NM_006939.4(SOS2):c.969+5A>G
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NM_006939.4(SOS2):c.969+6C>T
|
rs1194667646
|
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NM_006939.4(SOS2):c.975T>G (p.Ile325Met)
|
rs2139679163
|
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NM_006939.4(SOS2):c.995C>G (p.Ala332Gly)
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NM_012082.4(ZFPM2):c.1183A>G (p.Ser395Gly)
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NM_012082.4(ZFPM2):c.1186G>A (p.Asp396Asn)
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NM_012082.4(ZFPM2):c.1210A>C (p.Thr404Pro)
|
rs1586283411
|
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NM_012082.4(ZFPM2):c.1349C>T (p.Thr450Met)
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NM_012082.4(ZFPM2):c.1413G>C (p.Lys471Asn)
|
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NM_012082.4(ZFPM2):c.1436T>C (p.Leu479Pro)
|
rs1586283783
|
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NM_012082.4(ZFPM2):c.1456C>T (p.Pro486Ser)
|
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NM_012082.4(ZFPM2):c.1463T>C (p.Ile488Thr)
|
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NM_012082.4(ZFPM2):c.1592G>A (p.Gly531Asp)
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NM_012082.4(ZFPM2):c.1639G>A (p.Gly547Arg)
|
rs1409008207
|
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NM_012082.4(ZFPM2):c.1727A>G (p.Gln576Arg)
|
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NM_012082.4(ZFPM2):c.1786A>G (p.Ser596Gly)
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NM_012082.4(ZFPM2):c.1818_1820del (p.Leu607del)
|
rs763555819
|
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NM_012082.4(ZFPM2):c.1892T>G (p.Val631Gly)
|
|
|
|
NM_012082.4(ZFPM2):c.2096A>C (p.His699Pro)
|
rs368486644
|
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NM_012082.4(ZFPM2):c.2146C>T (p.Pro716Ser)
|
rs1554583195
|
|
|
NM_012082.4(ZFPM2):c.2147C>A (p.Pro716His)
|
|
|
|
NM_012082.4(ZFPM2):c.2207G>A (p.Arg736His)
|
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|
NM_012082.4(ZFPM2):c.2230A>T (p.Met744Leu)
|
rs757882709
|
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NM_012082.4(ZFPM2):c.2295C>A (p.Asn765Lys)
|
rs2131180275
|
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NM_012082.4(ZFPM2):c.2311A>G (p.Thr771Ala)
|
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|
|
NM_012082.4(ZFPM2):c.2384T>C (p.Val795Ala)
|
rs1563574497
|
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NM_012082.4(ZFPM2):c.2411C>T (p.Thr804Met)
|
|
|
|
NM_012082.4(ZFPM2):c.241G>A (p.Asp81Asn)
|
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|
NM_012082.4(ZFPM2):c.2493T>G (p.Asp831Glu)
|
|
|
|
NM_012082.4(ZFPM2):c.2545A>G (p.Arg849Gly)
|
rs2131181158
|
|
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NM_012082.4(ZFPM2):c.2673C>G (p.Asp891Glu)
|
|
|
|
NM_012082.4(ZFPM2):c.2762A>G (p.Asn921Ser)
|
rs771987459
|
|
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NM_012082.4(ZFPM2):c.3037G>C (p.Glu1013Gln)
|
|
|
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NM_012082.4(ZFPM2):c.3090T>G (p.Asp1030Glu)
|
|
|
|
NM_012082.4(ZFPM2):c.3124G>T (p.Val1042Leu)
|
|
|
|
NM_012082.4(ZFPM2):c.3161C>T (p.Pro1054Leu)
|
rs1814096724
|
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NM_012082.4(ZFPM2):c.3218A>T (p.His1073Leu)
|
|
|
|
NM_012082.4(ZFPM2):c.322A>G (p.Lys108Glu)
|
rs1815131947
|
|
|
NM_012082.4(ZFPM2):c.3262G>A (p.Glu1088Lys)
|
|
|
|
NM_012082.4(ZFPM2):c.3294G>C (p.Glu1098Asp)
|
rs149688628
|
|
|
NM_012082.4(ZFPM2):c.3298C>G (p.Gln1100Glu)
|
|
|
|
NM_012082.4(ZFPM2):c.3326A>T (p.Asn1109Ile)
|
|
|
|
NM_012082.4(ZFPM2):c.3334A>G (p.Ser1112Gly)
|
rs1554583419
|
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NM_012082.4(ZFPM2):c.3418T>G (p.Phe1140Val)
|
|
|
|
NM_012082.4(ZFPM2):c.364G>T (p.Val122Leu)
|
rs772114579
|
|
|
NM_012082.4(ZFPM2):c.477T>A (p.Asp159Glu)
|
|
|
|
NM_012082.4(ZFPM2):c.593T>C (p.Phe198Ser)
|
rs2131136061
|
|
|
NM_012082.4(ZFPM2):c.761C>T (p.Ser254Phe)
|
|
|
|
NM_012082.4(ZFPM2):c.787C>T (p.Arg263Trp)
|
|
|
|
NM_012082.4(ZFPM2):c.842C>G (p.Ala281Gly)
|
|
|
|
NM_012082.4(ZFPM2):c.845C>T (p.Pro282Leu)
|
|
|
|
NM_012082.4(ZFPM2):c.860A>G (p.Asn287Ser)
|
|
|
|
NM_012082.4(ZFPM2):c.898_900dup (p.Phe300_Pro301insPhe)
|
|
|
|
NM_012082.4(ZFPM2):c.945G>T (p.Met315Ile)
|
|
|
|
NM_012082.4(ZFPM2):c.959A>G (p.His320Arg)
|
|
|
|
NM_012082.4(ZFPM2):c.964+4A>C
|
|
|
|
NM_012082.4(ZFPM2):c.991C>T (p.Pro331Ser)
|
|
|
|
NM_013266.4(CTNNA3):c.100-1G>A
|
|
|
|
NM_013266.4(CTNNA3):c.100-7A>G
|
rs201986002
|
|
|
NM_013266.4(CTNNA3):c.1006C>T (p.Arg336Cys)
|
rs375721994
|
|
|
NM_013266.4(CTNNA3):c.1012G>A (p.Ala338Thr)
|
rs763229606
|
|
|
NM_013266.4(CTNNA3):c.1012G>C (p.Ala338Pro)
|
|
|
|
NM_013266.4(CTNNA3):c.1047+3A>G
|
|
|
|
NM_013266.4(CTNNA3):c.1048-3C>A
|
rs1840261441
|
|
|
NM_013266.4(CTNNA3):c.1048G>A (p.Ala350Thr)
|
|
|
|
NM_013266.4(CTNNA3):c.1059del (p.Glu354fs)
|
rs1351207870
|
|
|
NM_013266.4(CTNNA3):c.1073C>T (p.Thr358Ile)
|
rs751471841
|
|
|
NM_013266.4(CTNNA3):c.1101T>A (p.Cys367Ter)
|
|
|
|
NM_013266.4(CTNNA3):c.1105A>T (p.Lys369Ter)
|
rs1840257862
|
|
|
NM_013266.4(CTNNA3):c.1107_1108delinsAC (p.Thr370Pro)
|
|
|
|
NM_013266.4(CTNNA3):c.1114G>A (p.Asp372Asn)
|
|
|
|
NM_013266.4(CTNNA3):c.1121G>A (p.Arg374His)
|
rs1360269534
|
|
|
NM_013266.4(CTNNA3):c.1128+2T>A
|
rs1564675010
|
|
|
NM_013266.4(CTNNA3):c.1128+2T>C
|
rs1564675010
|
|
|
NM_013266.4(CTNNA3):c.1135A>C (p.Lys379Gln)
|
|
|
|
NM_013266.4(CTNNA3):c.1144A>G (p.Ile382Val)
|
|
|
|
NM_013266.4(CTNNA3):c.1145T>C (p.Ile382Thr)
|
|
|
|
NM_013266.4(CTNNA3):c.1171G>A (p.Asp391Asn)
|
|
|
|
NM_013266.4(CTNNA3):c.1178C>A (p.Thr393Lys)
|
|
|
|
NM_013266.4(CTNNA3):c.1183C>A (p.Pro395Thr)
|
rs1554848924
|
|
|
NM_013266.4(CTNNA3):c.1191G>C (p.Leu397Phe)
|
|
|
|
NM_013266.4(CTNNA3):c.1191G>T (p.Leu397Phe)
|
|
|
|
NM_013266.4(CTNNA3):c.1199T>C (p.Ile400Thr)
|
|
|
|
NM_013266.4(CTNNA3):c.1205C>A (p.Ala402Asp)
|
rs1352266937
|
|
|
NM_013266.4(CTNNA3):c.1222G>A (p.Glu408Lys)
|
|
|
|
NM_013266.4(CTNNA3):c.1233A>G (p.Ile411Met)
|
rs1554848898
|
|
|
NM_013266.4(CTNNA3):c.1241A>G (p.Tyr414Cys)
|
rs2132785561
|
|
|
NM_013266.4(CTNNA3):c.1291C>G (p.Leu431Val)
|
|
|
|
NM_013266.4(CTNNA3):c.1299T>G (p.Cys433Trp)
|
|
|
|
NM_013266.4(CTNNA3):c.1304T>C (p.Met435Thr)
|
|
|
|
NM_013266.4(CTNNA3):c.1307C>T (p.Ser436Leu)
|
|
|
|
NM_013266.4(CTNNA3):c.1324A>G (p.Ile442Val)
|
|
|
|
NM_013266.4(CTNNA3):c.1345G>A (p.Ala449Thr)
|
|
|
|
NM_013266.4(CTNNA3):c.1346C>G (p.Ala449Gly)
|
rs2132317654
|
|
|
NM_013266.4(CTNNA3):c.134_135del (p.Pro44_Ser45insTer)
|
|
|
|
NM_013266.4(CTNNA3):c.1361C>G (p.Thr454Ser)
|
|
|
|
NM_013266.4(CTNNA3):c.1368T>G (p.Cys456Trp)
|
|
|
|
NM_013266.4(CTNNA3):c.1373A>G (p.Gln458Arg)
|
|
|
|
NM_013266.4(CTNNA3):c.1431C>A (p.Asn477Lys)
|
|
|
|
NM_013266.4(CTNNA3):c.1441A>T (p.Met481Leu)
|
|
|
|
NM_013266.4(CTNNA3):c.1444T>C (p.Tyr482His)
|
|
|
|
NM_013266.4(CTNNA3):c.1450C>A (p.Arg484Ser)
|
rs200182913
|
|
|
NM_013266.4(CTNNA3):c.1461G>T (p.Glu487Asp)
|
|
|
|
NM_013266.4(CTNNA3):c.1469T>C (p.Ile490Thr)
|
|
|
|
NM_013266.4(CTNNA3):c.1489G>A (p.Val497Ile)
|
|
|
|
NM_013266.4(CTNNA3):c.1498A>T (p.Ile500Phe)
|
|
|
|
NM_013266.4(CTNNA3):c.1501A>G (p.Thr501Ala)
|
|
|
|
NM_013266.4(CTNNA3):c.1523C>A (p.Ala508Asp)
|
|
|
|
NM_013266.4(CTNNA3):c.1525G>A (p.Val509Ile)
|
|
|
|
NM_013266.4(CTNNA3):c.152G>A (p.Arg51His)
|
|
|
|
NM_013266.4(CTNNA3):c.1531+1G>T
|
|
|
|
NM_013266.4(CTNNA3):c.1531+5G>A
|
|
|
|
NM_013266.4(CTNNA3):c.1549G>C (p.Asp517His)
|
|
|
|
NM_013266.4(CTNNA3):c.1556A>C (p.Asn519Thr)
|
|
|
|
NM_013266.4(CTNNA3):c.1558A>C (p.Lys520Gln)
|
|
|
|
NM_013266.4(CTNNA3):c.1571C>G (p.Ala524Gly)
|
rs1589162805
|
|
|
NM_013266.4(CTNNA3):c.1577G>A (p.Arg526Lys)
|
|
|
|
NM_013266.4(CTNNA3):c.1577_1586dup (p.Asp529fs)
|
|
|
|
NM_013266.4(CTNNA3):c.1581C>A (p.Asp527Glu)
|
|
|
|
NM_013266.4(CTNNA3):c.1612G>T (p.Gly538Cys)
|
|
|
|
NM_013266.4(CTNNA3):c.1624G>A (p.Gly542Ser)
|
|
|
|
NM_013266.4(CTNNA3):c.1645C>A (p.His549Asn)
|
rs1302576659
|
|
|
NM_013266.4(CTNNA3):c.1646A>T (p.His549Leu)
|
|
|
|
NM_013266.4(CTNNA3):c.1669A>G (p.Ser557Gly)
|
rs768735520
|
|
|
NM_013266.4(CTNNA3):c.1675G>A (p.Glu559Lys)
|
|
|
|
NM_013266.4(CTNNA3):c.16C>G (p.Pro6Ala)
|
rs756147614
|
|
|
NM_013266.4(CTNNA3):c.16C>T (p.Pro6Ser)
|
|
|
|
NM_013266.4(CTNNA3):c.1700T>C (p.Val567Ala)
|
|
|
|
NM_013266.4(CTNNA3):c.1703T>A (p.Met568Lys)
|
|
|
|
NM_013266.4(CTNNA3):c.1732+6T>C
|
|
|
|
NM_013266.4(CTNNA3):c.1733-3C>T
|
|
|
|
NM_013266.4(CTNNA3):c.1748T>C (p.Val583Ala)
|
|
|
|
NM_013266.4(CTNNA3):c.174_176del (p.Leu59del)
|
|
|
|
NM_013266.4(CTNNA3):c.1757T>G (p.Val586Gly)
|
|
|
|
NM_013266.4(CTNNA3):c.1774G>T (p.Ala592Ser)
|
rs1246325935
|
|
|
NM_013266.4(CTNNA3):c.1775C>A (p.Ala592Asp)
|
|
|
|
NM_013266.4(CTNNA3):c.1775C>G (p.Ala592Gly)
|
|
|
|
NM_013266.4(CTNNA3):c.1787G>C (p.Ser596Thr)
|
|
|
|
NM_013266.4(CTNNA3):c.1787_1788delinsAT (p.Ser596Asn)
|
rs2091475179
|
|
|
NM_013266.4(CTNNA3):c.1819G>A (p.Val607Met)
|
rs1564836430
|
|
|
NM_013266.4(CTNNA3):c.181T>C (p.Ser61Pro)
|
rs1843298119
|
|
|
NM_013266.4(CTNNA3):c.1823A>G (p.Asp608Gly)
|
rs138314889
|
|
|
NM_013266.4(CTNNA3):c.1831A>G (p.Lys611Glu)
|
|
|
|
NM_013266.4(CTNNA3):c.1836G>T (p.Lys612Asn)
|
rs774209973
|
|
|
NM_013266.4(CTNNA3):c.1849A>G (p.Ile617Val)
|
rs2132158723
|
|
|
NM_013266.4(CTNNA3):c.1859T>A (p.Ile620Asn)
|
|
|
|
NM_013266.4(CTNNA3):c.1870G>C (p.Val624Leu)
|
|
|
|
NM_013266.4(CTNNA3):c.187G>C (p.Glu63Gln)
|
|
|
|
NM_013266.4(CTNNA3):c.1882C>A (p.Arg628=)
|
rs149081490
|
|
|
NM_013266.4(CTNNA3):c.1883G>A (p.Arg628Gln)
|
rs754792055
|
|
|
NM_013266.4(CTNNA3):c.1900G>T (p.Glu634Ter)
|
|
|
|
NM_013266.4(CTNNA3):c.1903G>A (p.Asp635Asn)
|
|
|
|
NM_013266.4(CTNNA3):c.1924G>T (p.Glu642Ter)
|
|
|
|
NM_013266.4(CTNNA3):c.1927C>T (p.His643Tyr)
|
rs141141746
|
|
|
NM_013266.4(CTNNA3):c.1933G>C (p.Val645Leu)
|
rs370600208
|
|
|
NM_013266.4(CTNNA3):c.1949G>A (p.Ser650Asn)
|
rs1060502223
|
|
|
NM_013266.4(CTNNA3):c.1977+1G>A
|
|
|
|
NM_013266.4(CTNNA3):c.1A>C (p.Met1Leu)
|
rs1839754072
|
|
|
NM_013266.4(CTNNA3):c.2017A>T (p.Ile673Phe)
|
rs1485903436
|
|
|
NM_013266.4(CTNNA3):c.2041A>G (p.Lys681Glu)
|
rs142116698
|
|
|
NM_013266.4(CTNNA3):c.2053A>C (p.Ser685Arg)
|
|
|
|
NM_013266.4(CTNNA3):c.2053A>G (p.Ser685Gly)
|
rs199697536
|
|
|
NM_013266.4(CTNNA3):c.2054G>C (p.Ser685Thr)
|
rs774933459
|
|
|
NM_013266.4(CTNNA3):c.2071A>G (p.Ile691Val)
|
|
|
|
NM_013266.4(CTNNA3):c.2080T>C (p.Trp694Arg)
|
rs2080381322
|
|
|
NM_013266.4(CTNNA3):c.2097C>G (p.Asn699Lys)
|
|
|
|
NM_013266.4(CTNNA3):c.2127T>G (p.Cys709Trp)
|
rs1171326311
|
|
|
NM_013266.4(CTNNA3):c.2134A>G (p.Met712Val)
|
rs1055129880
|
|
|
NM_013266.4(CTNNA3):c.2167G>A (p.Gly723Arg)
|
rs2133326152
|
|
|
NM_013266.4(CTNNA3):c.2202_2203delinsCA (p.Ala735Thr)
|
|
|
|
NM_013266.4(CTNNA3):c.2242C>T (p.Leu748Phe)
|
rs1011996986
|
|
|
NM_013266.4(CTNNA3):c.2248C>G (p.Arg750Gly)
|
|
|
|
NM_013266.4(CTNNA3):c.2248C>T (p.Arg750Trp)
|
rs149211186
|
|
|
NM_013266.4(CTNNA3):c.2248del (p.Arg750fs)
|
|
|
|
NM_013266.4(CTNNA3):c.2260A>C (p.Asn754His)
|
rs142752710
|
|
|
NM_013266.4(CTNNA3):c.2265+1G>C
|
rs1589220613
|
|
|
NM_013266.4(CTNNA3):c.2265+1del
|
rs2078476986
|
|
|
NM_013266.4(CTNNA3):c.2265+2T>A
|
rs2078476917
|
|
|
NM_013266.4(CTNNA3):c.2278T>A (p.Ser760Thr)
|
rs760532002
|
|
|
NM_013266.4(CTNNA3):c.2282G>T (p.Cys761Phe)
|
|
|
|
NM_013266.4(CTNNA3):c.2302T>C (p.Tyr768His)
|
|
|
|
NM_013266.4(CTNNA3):c.2322C>G (p.Phe774Leu)
|
|
|
|
NM_013266.4(CTNNA3):c.2324A>G (p.Tyr775Cys)
|
rs2077974257
|
|
|
NM_013266.4(CTNNA3):c.233A>G (p.Gln78Arg)
|
|
|
|
NM_013266.4(CTNNA3):c.2347A>G (p.Ser783Gly)
|
|
|
|
NM_013266.4(CTNNA3):c.2351A>G (p.Gln784Arg)
|
rs2133257128
|
|
|
NM_013266.4(CTNNA3):c.2354T>C (p.Val785Ala)
|
|
|
|
NM_013266.4(CTNNA3):c.2372A>G (p.Asn791Ser)
|
|
|
|
NM_013266.4(CTNNA3):c.2378GAG[1] (p.Gly794del)
|
|
|
|
NM_013266.4(CTNNA3):c.2386C>T (p.Leu796Phe)
|
|
|
|
NM_013266.4(CTNNA3):c.2410G>A (p.Val804Ile)
|
|
|
|
NM_013266.4(CTNNA3):c.245T>G (p.Val82Gly)
|
|
|
|
NM_013266.4(CTNNA3):c.2472G>A (p.Met824Ile)
|
|
|
|
NM_013266.4(CTNNA3):c.2493G>T (p.Lys831Asn)
|
|
|
|
NM_013266.4(CTNNA3):c.2501G>A (p.Arg834Gln)
|
rs373081692
|
|
|
NM_013266.4(CTNNA3):c.2528A>G (p.His843Arg)
|
rs540211204
|
|
|
NM_013266.4(CTNNA3):c.2530C>A (p.Pro844Thr)
|
|
|
|
NM_013266.4(CTNNA3):c.2530C>G (p.Pro844Ala)
|
rs2077066633
|
|
|
NM_013266.4(CTNNA3):c.2540T>C (p.Met847Thr)
|
rs1391961462
|
|
|
NM_013266.4(CTNNA3):c.254A>G (p.Asp85Gly)
|
|
|
|
NM_013266.4(CTNNA3):c.2554G>A (p.Ala852Thr)
|
|
|
|
NM_013266.4(CTNNA3):c.2563A>C (p.Lys855Gln)
|
|
|
|
NM_013266.4(CTNNA3):c.2563A>G (p.Lys855Glu)
|
rs2133105906
|
|
|
NM_013266.4(CTNNA3):c.2564A>G (p.Lys855Arg)
|
|
|
|
NM_013266.4(CTNNA3):c.2567A>C (p.Lys856Thr)
|
|
|
|
NM_013266.4(CTNNA3):c.2568dup (p.Pro857fs)
|
rs759618368
|
|
|
NM_013266.4(CTNNA3):c.2582G>C (p.Arg861Thr)
|
rs1375445904
|
|
|
NM_013266.4(CTNNA3):c.2584G>A (p.Glu862Lys)
|
|
|
|
NM_013266.4(CTNNA3):c.2585A>G (p.Glu862Gly)
|
|
|
|
NM_013266.4(CTNNA3):c.2588del (p.Lys863fs)
|
rs730880073
|
|
|
NM_013266.4(CTNNA3):c.2589G>T (p.Lys863Asn)
|
rs1564515685
|
|
|
NM_013266.4(CTNNA3):c.25T>G (p.Leu9Val)
|
|
|
|
NM_013266.4(CTNNA3):c.2600C>T (p.Thr867Met)
|
|
|
|
NM_013266.4(CTNNA3):c.2617C>T (p.Arg873Ter)
|
rs761449098
|
|
|
NM_013266.4(CTNNA3):c.2618G>A (p.Arg873Gln)
|
|
|
|
NM_013266.4(CTNNA3):c.2638dup (p.Ile880fs)
|
rs761152565
|
|
|
NM_013266.4(CTNNA3):c.263C>T (p.Thr88Met)
|
|
|
|
NM_013266.4(CTNNA3):c.2642A>G (p.His881Arg)
|
|
|
|
NM_013266.4(CTNNA3):c.2650C>A (p.Gln884Lys)
|
|
|
|
NM_013266.4(CTNNA3):c.2654T>C (p.Val885Ala)
|
|
|
|
NM_013266.4(CTNNA3):c.2665T>C (p.Phe889Leu)
|
|
|
|
NM_013266.4(CTNNA3):c.2677C>A (p.Gln893Lys)
|
|
|
|
NM_013266.4(CTNNA3):c.2684A>G (p.Tyr895Cys)
|
rs1426521596
|
|
|
NM_013266.4(CTNNA3):c.2686T>C (p.Ter896Arg)
|
rs2077062157
|
|
|
NM_013266.4(CTNNA3):c.2688A>G (p.Ter896Trp)
|
rs2133105135
|
|
|
NM_013266.4(CTNNA3):c.276G>C (p.Glu92Asp)
|
|
|
|
NM_013266.4(CTNNA3):c.283C>T (p.Arg95Cys)
|
rs746030160
|
|
|
NM_013266.4(CTNNA3):c.284G>A (p.Arg95His)
|
|
|
|
NM_013266.4(CTNNA3):c.284G>T (p.Arg95Leu)
|
|
|
|
NM_013266.4(CTNNA3):c.292A>G (p.Ser98Gly)
|
|
|
|
NM_013266.4(CTNNA3):c.293-10T>C
|
rs566394363
|
|
|
NM_013266.4(CTNNA3):c.324del (p.Phe108fs)
|
|
|
|
NM_013266.4(CTNNA3):c.336_337del (p.Cys113fs)
|
|
|
|
NM_013266.4(CTNNA3):c.34G>A (p.Asp12Asn)
|
rs1839752364
|
|
|
NM_013266.4(CTNNA3):c.364G>T (p.Val122Phe)
|
|
|
|
NM_013266.4(CTNNA3):c.376C>G (p.Arg126Gly)
|
rs373661106
|
|
|
NM_013266.4(CTNNA3):c.376C>T (p.Arg126Cys)
|
rs373661106
|
|
|
NM_013266.4(CTNNA3):c.388G>C (p.Ala130Pro)
|
|
|
|
NM_013266.4(CTNNA3):c.38del (p.Pro13fs)
|
rs1169564335
|
|
|
NM_013266.4(CTNNA3):c.398C>T (p.Thr133Met)
|
rs763257801
|
|
|
NM_013266.4(CTNNA3):c.40C>T (p.Gln14Ter)
|
rs1589530547
|
|
|
NM_013266.4(CTNNA3):c.412C>A (p.Leu138Ile)
|
rs899335202
|
|
|
NM_013266.4(CTNNA3):c.416C>A (p.Ala139Glu)
|
|
|
|
NM_013266.4(CTNNA3):c.421A>G (p.Met141Val)
|
rs781595088
|
|
|
NM_013266.4(CTNNA3):c.431T>C (p.Val144Ala)
|
rs758058375
|
|
|
NM_013266.4(CTNNA3):c.433A>G (p.Met145Val)
|
rs778800601
|
|
|
NM_013266.4(CTNNA3):c.461T>C (p.Phe154Ser)
|
|
|
|
NM_013266.4(CTNNA3):c.469A>G (p.Thr157Ala)
|
|
|
|
NM_013266.4(CTNNA3):c.473T>C (p.Phe158Ser)
|
rs1840000920
|
|
|
NM_013266.4(CTNNA3):c.482_483del (p.Leu161fs)
|
|
|
|
NM_013266.4(CTNNA3):c.493G>A (p.Ala165Thr)
|
rs765439915
|
|
|
NM_013266.4(CTNNA3):c.509T>C (p.Leu170Pro)
|
|
|
|
NM_013266.4(CTNNA3):c.517A>G (p.Thr173Ala)
|
rs1839999331
|
|
|
NM_013266.4(CTNNA3):c.541C>A (p.Leu181Met)
|
rs1839998542
|
|
|
NM_013266.4(CTNNA3):c.563C>T (p.Ala188Val)
|
|
|
|
NM_013266.4(CTNNA3):c.572G>A (p.Arg191His)
|
|
|
|
NM_013266.4(CTNNA3):c.577_579+11dup
|
|
|
|
NM_013266.4(CTNNA3):c.579G>A (p.Gln193=)
|
|
|
|
NM_013266.4(CTNNA3):c.59C>T (p.Thr20Ile)
|
|
|
|
NM_013266.4(CTNNA3):c.602G>A (p.Arg201Lys)
|
|
|
|
NM_013266.4(CTNNA3):c.617G>A (p.Gly206Glu)
|
|
|
|
NM_013266.4(CTNNA3):c.619G>T (p.Ala207Ser)
|
|
|
|
NM_013266.4(CTNNA3):c.649C>G (p.Leu217Val)
|
|
|
|
NM_013266.4(CTNNA3):c.649C>T (p.Leu217Phe)
|
rs374834298
|
|
|
NM_013266.4(CTNNA3):c.654G>T (p.Leu218Phe)
|
rs371330302
|
|
|
NM_013266.4(CTNNA3):c.662T>C (p.Ile221Thr)
|
|
|
|
NM_013266.4(CTNNA3):c.665G>T (p.Cys222Phe)
|
|
|
|
NM_013266.4(CTNNA3):c.674G>A (p.Cys225Tyr)
|
rs747835139
|
|
|
NM_013266.4(CTNNA3):c.698C>T (p.Ser233Phe)
|
rs1232010222
|
|
|
NM_013266.4(CTNNA3):c.721G>C (p.Val241Leu)
|
|
|
|
NM_013266.4(CTNNA3):c.722T>C (p.Val241Ala)
|
|
|
|
NM_013266.4(CTNNA3):c.730G>A (p.Glu244Lys)
|
|
|
|
NM_013266.4(CTNNA3):c.749A>G (p.Asn250Ser)
|
|
|
|
NM_013266.4(CTNNA3):c.758C>A (p.Ser253Ter)
|
|
|
|
NM_013266.4(CTNNA3):c.761del (p.Asn254fs)
|
|
|
|
NM_013266.4(CTNNA3):c.772G>A (p.Gly258Arg)
|
rs1485287209
|
|
|
NM_013266.4(CTNNA3):c.778C>T (p.Gln260Ter)
|
rs2132264877
|
|
|
NM_013266.4(CTNNA3):c.793_797dup (p.Glu267fs)
|
rs2132264737
|
|
|
NM_013266.4(CTNNA3):c.802C>T (p.Pro268Ser)
|
|
|
|
NM_013266.4(CTNNA3):c.811G>A (p.Ala271Thr)
|
|
|
|
NM_013266.4(CTNNA3):c.843+1G>T
|
rs1256726247
|
|
|
NM_013266.4(CTNNA3):c.844-17A>G
|
|
|
|
NM_013266.4(CTNNA3):c.844-2A>G
|
rs766109504
|
|
|
NM_013266.4(CTNNA3):c.844-5C>G
|
rs1862484592
|
|
|
NM_013266.4(CTNNA3):c.844-6T>G
|
|
|
|
NM_013266.4(CTNNA3):c.856C>A (p.Leu286Met)
|
rs1554939194
|
|
|
NM_013266.4(CTNNA3):c.869C>T (p.Thr290Ile)
|
|
|
|
NM_013266.4(CTNNA3):c.874A>T (p.Thr292Ser)
|
|
|
|
NM_013266.4(CTNNA3):c.888A>G (p.Ile296Met)
|
|
|
|
NM_013266.4(CTNNA3):c.904A>G (p.Lys302Glu)
|
rs970349800
|
|
|
NM_013266.4(CTNNA3):c.914A>G (p.Glu305Gly)
|
|
|
|
NM_013266.4(CTNNA3):c.919A>T (p.Ile307Phe)
|
rs543478300
|
|
|
NM_013266.4(CTNNA3):c.92T>A (p.Ile31Lys)
|
|
|
|
NM_013266.4(CTNNA3):c.944C>T (p.Ala315Val)
|
|
|
|
NM_013266.4(CTNNA3):c.947A>G (p.Asp316Gly)
|
|
|
|
NM_013266.4(CTNNA3):c.952T>C (p.Ser318Pro)
|
rs1564948470
|
|
|
NM_013266.4(CTNNA3):c.974G>C (p.Arg325Pro)
|
rs773609785
|
|
|
NM_013266.4(CTNNA3):c.979C>T (p.Arg327Trp)
|
|
|
|
NM_013266.4(CTNNA3):c.988G>A (p.Ala330Thr)
|
|
|
|
NM_013266.4(CTNNA3):c.989C>T (p.Ala330Val)
|
|
|
|
NM_013266.4(CTNNA3):c.99+3A>G
|
rs1839749463
|
|
|
NM_014000.3(VCL):c.1001A>C (p.Gln334Pro)
|
|
|
|
NM_014000.3(VCL):c.1022+3A>G
|
rs201949733
|
|
|
NM_014000.3(VCL):c.1026A>T (p.Gly342=)
|
|
|
|
NM_014000.3(VCL):c.1029A>C (p.Gln343His)
|
|
|
|
NM_014000.3(VCL):c.1031G>A (p.Gly344Glu)
|
|
|
|
NM_014000.3(VCL):c.1031G>T (p.Gly344Val)
|
|
|
|
NM_014000.3(VCL):c.1042G>A (p.Val348Met)
|
rs2131907622
|
|
|
NM_014000.3(VCL):c.1055A>C (p.Lys352Thr)
|
|
|
|
NM_014000.3(VCL):c.1064A>G (p.Gln355Arg)
|
|
|
|
NM_014000.3(VCL):c.107C>T (p.Ala36Val)
|
rs2136218305
|
|
|
NM_014000.3(VCL):c.1103A>T (p.Glu368Val)
|
rs2131907690
|
|
|
NM_014000.3(VCL):c.1115G>A (p.Arg372His)
|
rs377289804
|
|
|
NM_014000.3(VCL):c.1121T>C (p.Leu374Pro)
|
|
|
|
NM_014000.3(VCL):c.1127C>G (p.Ala376Gly)
|
rs1420358609
|
|
|
NM_014000.3(VCL):c.1132A>G (p.Thr378Ala)
|
rs2131907756
|
|
|
NM_014000.3(VCL):c.113C>T (p.Pro38Leu)
|
rs1060502194
|
|
|
NM_014000.3(VCL):c.1165G>A (p.Asp389Asn)
|
rs776129187
|
|
|
NM_014000.3(VCL):c.1166A>G (p.Asp389Gly)
|
|
|
|
NM_014000.3(VCL):c.1176+1G>A
|
|
|
|
NM_014000.3(VCL):c.1176+5T>C
|
rs765119460
|
|
|
NM_014000.3(VCL):c.1177-10C>A
|
rs1839852311
|
|
|
NM_014000.3(VCL):c.118C>G (p.Leu40Val)
|
|
|
|
NM_014000.3(VCL):c.1195A>G (p.Asn399Asp)
|
rs377228795
|
|
|
NM_014000.3(VCL):c.1198G>T (p.Gly400Cys)
|
rs201361282
|
|
|
NM_014000.3(VCL):c.1225C>G (p.Arg409Gly)
|
rs202005455
|
|
|
NM_014000.3(VCL):c.1225C>T (p.Arg409Ter)
|
rs202005455
|
|
|
NM_014000.3(VCL):c.1235T>C (p.Leu412Ser)
|
|
|
|
NM_014000.3(VCL):c.1236G>T (p.Leu412Phe)
|
rs757353180
|
|
|
NM_014000.3(VCL):c.1240G>A (p.Glu414Lys)
|
|
|
|
NM_014000.3(VCL):c.124G>A (p.Ala42Thr)
|
|
|
|
NM_014000.3(VCL):c.1276A>G (p.Lys426Glu)
|
|
|
|
NM_014000.3(VCL):c.1291A>G (p.Ile431Val)
|
|
|
|
NM_014000.3(VCL):c.1303C>T (p.Leu435Phe)
|
rs1839856184
|
|
|
NM_014000.3(VCL):c.1314A>G (p.Ile438Met)
|
|
|
|
NM_014000.3(VCL):c.1315T>C (p.Ser439Pro)
|
rs1264504325
|
|
|
NM_014000.3(VCL):c.1319C>T (p.Ala440Val)
|
rs1554817862
|
|
|
NM_014000.3(VCL):c.1334T>C (p.Leu445Ser)
|
rs747568915
|
|
|
NM_014000.3(VCL):c.1337C>G (p.Ala446Gly)
|
rs727504675
|
|
|
NM_014000.3(VCL):c.133G>A (p.Ala45Thr)
|
|
|
|
NM_014000.3(VCL):c.1346G>A (p.Arg449Gln)
|
rs755234443
|
|
|
NM_014000.3(VCL):c.1352+2T>C
|
|
|
|
NM_014000.3(VCL):c.1354G>A (p.Gly452Arg)
|
rs1015527957
|
|
|
NM_014000.3(VCL):c.1359A>C (p.Lys453Asn)
|
|
|
|
NM_014000.3(VCL):c.1361G>A (p.Gly454Glu)
|
|
|
|
NM_014000.3(VCL):c.1361G>T (p.Gly454Val)
|
|
|
|
NM_014000.3(VCL):c.136G>A (p.Ala46Thr)
|
|
|
|
NM_014000.3(VCL):c.1379G>A (p.Arg460Gln)
|
rs753026034
|
|
|
NM_014000.3(VCL):c.1382C>A (p.Ala461Asp)
|
rs886038800
|
|
|
NM_014000.3(VCL):c.1387G>A (p.Ala463Thr)
|
|
|
|
NM_014000.3(VCL):c.1402A>G (p.Thr468Ala)
|
|
|
|
NM_014000.3(VCL):c.1411C>A (p.Gln471Lys)
|
rs1839932518
|
|
|
NM_014000.3(VCL):c.1417C>G (p.Leu473Val)
|
rs1461179367
|
|
|
NM_014000.3(VCL):c.1420C>A (p.Gln474Lys)
|
|
|
|
NM_014000.3(VCL):c.1423A>T (p.Thr475Ser)
|
rs1839932733
|
|
|
NM_014000.3(VCL):c.1433A>C (p.Asn478Thr)
|
|
|
|
NM_014000.3(VCL):c.1438G>A (p.Ala480Thr)
|
|
|
|
NM_014000.3(VCL):c.1445C>A (p.Ala482Asp)
|
|
|
|
NM_014000.3(VCL):c.1453A>G (p.Arg485Gly)
|
rs2131914499
|
|
|
NM_014000.3(VCL):c.1457C>T (p.Pro486Leu)
|
rs1251509217
|
|
|
NM_014000.3(VCL):c.1457del (p.Pro486fs)
|
|
|
|
NM_014000.3(VCL):c.1464A>C (p.Lys488Asn)
|
rs2131914533
|
|
|
NM_014000.3(VCL):c.1494G>C (p.Glu498Asp)
|
rs1325002119
|
|
|
NM_014000.3(VCL):c.14A>C (p.His5Pro)
|
rs2136218216
|
|
|
NM_014000.3(VCL):c.1509G>A (p.Trp503Ter)
|
rs2131914592
|
|
|
NM_014000.3(VCL):c.1519C>T (p.Pro507Ser)
|
|
|
|
NM_014000.3(VCL):c.151G>T (p.Val51Phe)
|
rs1565628951
|
|
|
NM_014000.3(VCL):c.1523C>G (p.Thr508Arg)
|
|
|
|
NM_014000.3(VCL):c.1535G>T (p.Arg512Leu)
|
|
|
|
NM_014000.3(VCL):c.1542C>A (p.Val514=)
|
rs7904077
|
|
|
NM_014000.3(VCL):c.1543+1G>T
|
|
|
|
NM_014000.3(VCL):c.1543+6G>A
|
rs1839934992
|
|
|
NM_014000.3(VCL):c.1559G>A (p.Arg520Gln)
|
rs757009736
|
|
|
NM_014000.3(VCL):c.155G>C (p.Ser52Thr)
|
rs886047216
|
|
|
NM_014000.3(VCL):c.1589C>G (p.Ala530Gly)
|
|
|
|
NM_014000.3(VCL):c.1591A>G (p.Asn531Asp)
|
|
|
|
NM_014000.3(VCL):c.1609T>C (p.Tyr537His)
|
|
|
|
NM_014000.3(VCL):c.160C>T (p.Leu54Phe)
|
|
|
|
NM_014000.3(VCL):c.1613G>T (p.Arg538Leu)
|
|
|
|
NM_014000.3(VCL):c.1620T>A (p.Asp540Glu)
|
rs533622785
|
|
|
NM_014000.3(VCL):c.1627G>A (p.Ala543Thr)
|
|
|
|
NM_014000.3(VCL):c.1636G>A (p.Asp546Asn)
|
rs1207840535
|
|
|
NM_014000.3(VCL):c.1637A>G (p.Asp546Gly)
|
rs1274067747
|
|
|
NM_014000.3(VCL):c.163G>C (p.Val55Leu)
|
rs755441334
|
|
|
NM_014000.3(VCL):c.1642G>A (p.Val548Met)
|
rs1470538710
|
|
|
NM_014000.3(VCL):c.1647C>G (p.Asp549Glu)
|
rs1839958659
|
|
|
NM_014000.3(VCL):c.1648C>G (p.Gln550Glu)
|
rs1406371942
|
|
|
NM_014000.3(VCL):c.1660C>G (p.Gln554Glu)
|
|
|
|
NM_014000.3(VCL):c.166C>T (p.Arg56Trp)
|
rs1555112641
|
|
|
NM_014000.3(VCL):c.1675G>T (p.Ala559Ser)
|
|
|
|
NM_014000.3(VCL):c.1679C>T (p.Ala560Val)
|
rs2131916413
|
|
|
NM_014000.3(VCL):c.167G>A (p.Arg56Gln)
|
|
|
|
NM_014000.3(VCL):c.168+1del
|
|
|
|
NM_014000.3(VCL):c.1687G>A (p.Glu563Lys)
|
|
|
|
NM_014000.3(VCL):c.1704G>C (p.Gln568His)
|
|
|
|
NM_014000.3(VCL):c.1708C>T (p.Arg570Ter)
|
rs794729191
|
|
|
NM_014000.3(VCL):c.1712C>T (p.Ala571Val)
|
rs1564530025
|
|
|
NM_014000.3(VCL):c.1715T>C (p.Leu572Pro)
|
rs1060502197
|
|
|
NM_014000.3(VCL):c.1720T>C (p.Ser574Pro)
|
rs2131916488
|
|
|
NM_014000.3(VCL):c.1721C>T (p.Ser574Phe)
|
rs574643494
|
|
|
NM_014000.3(VCL):c.1732G>A (p.Asp578Asn)
|
rs1839960250
|
|
|
NM_014000.3(VCL):c.1735T>G (p.Ser579Ala)
|
|
|
|
NM_014000.3(VCL):c.173G>A (p.Gly58Glu)
|
|
|
|
NM_014000.3(VCL):c.1743+12G>T
|
|
|
|
NM_014000.3(VCL):c.1743+13A>T
|
|
|
|
NM_014000.3(VCL):c.1743+1_1743+2dup
|
|
|
|
NM_014000.3(VCL):c.1743+4G>A
|
|
|
|
NM_014000.3(VCL):c.1743+6A>G
|
rs370709860
|
|
|
NM_014000.3(VCL):c.1744-10T>G
|
|
|
|
NM_014000.3(VCL):c.1744-1G>T
|
rs1057524654
|
|
|
NM_014000.3(VCL):c.1757G>A (p.Arg586Gln)
|
rs774076269
|
|
|
NM_014000.3(VCL):c.1759A>C (p.Met587Leu)
|
rs1839982640
|
|
|
NM_014000.3(VCL):c.1759A>G (p.Met587Val)
|
rs1839982640
|
|
|
NM_014000.3(VCL):c.1771A>G (p.Met591Val)
|
|
|
|
NM_014000.3(VCL):c.1791T>A (p.Asp597Glu)
|
rs1839983396
|
|
|
NM_014000.3(VCL):c.1792G>C (p.Val598Leu)
|
rs397517235
|
|
|
NM_014000.3(VCL):c.1793T>C (p.Val598Ala)
|
|
|
|
NM_014000.3(VCL):c.1801G>A (p.Asp601Asn)
|
|
|
|
NM_014000.3(VCL):c.1807A>T (p.Thr603Ser)
|
|
|
|
NM_014000.3(VCL):c.1810A>G (p.Thr604Ala)
|
rs754470470
|
|
|
NM_014000.3(VCL):c.1819A>C (p.Lys607Gln)
|
rs794729192
|
|
|
NM_014000.3(VCL):c.1835C>T (p.Ala612Val)
|
rs1591707558
|
|
|
NM_014000.3(VCL):c.1840A>T (p.Thr614Ser)
|
rs142695754
|
|
|
NM_014000.3(VCL):c.184G>C (p.Val62Leu)
|
rs147809878
|
|
|
NM_014000.3(VCL):c.1854T>G (p.Asp618Glu)
|
rs2131918422
|
|
|
NM_014000.3(VCL):c.1855G>A (p.Ala619Thr)
|
|
|
|
NM_014000.3(VCL):c.1856C>A (p.Ala619Glu)
|
rs771628544
|
|
|
NM_014000.3(VCL):c.1856C>T (p.Ala619Val)
|
rs771628544
|
|
|
NM_014000.3(VCL):c.1861A>C (p.Asn621His)
|
rs374309823
|
|
|
NM_014000.3(VCL):c.1861A>G (p.Asn621Asp)
|
|
|
|
NM_014000.3(VCL):c.1868A>C (p.Glu623Ala)
|
rs1060502193
|
|
|
NM_014000.3(VCL):c.186_195del (p.Gln63fs)
|
rs1841126016
|
|
|
NM_014000.3(VCL):c.1877T>C (p.Phe626Ser)
|
|
|
|
NM_014000.3(VCL):c.1879G>A (p.Asp627Asn)
|
rs1251173111
|
|
|
NM_014000.3(VCL):c.1882G>A (p.Glu628Lys)
|
|
|
|
NM_014000.3(VCL):c.1888G>A (p.Ala630Thr)
|
rs727503739
|
|
|
NM_014000.3(VCL):c.1918C>T (p.Leu640Phe)
|
rs886047219
|
|
|
NM_014000.3(VCL):c.1921G>A (p.Gly641Ser)
|
rs765123545
|
|
|
NM_014000.3(VCL):c.1924G>A (p.Ala642Thr)
|
rs1840044531
|
|
|
NM_014000.3(VCL):c.1961A>G (p.Asn654Ser)
|
rs1591709946
|
|
|
NM_014000.3(VCL):c.1972G>A (p.Val658Met)
|
rs2131922811
|
|
|
NM_014000.3(VCL):c.2000C>A (p.Thr667Lys)
|
|
|
|
NM_014000.3(VCL):c.2006G>T (p.Arg669Leu)
|
rs759771302
|
|
|
NM_014000.3(VCL):c.201T>A (p.Asp67Glu)
|
rs1841126519
|
|
|
NM_014000.3(VCL):c.2021A>G (p.Gln674Arg)
|
|
|
|
NM_014000.3(VCL):c.2022+2T>G
|
|
|
|
NM_014000.3(VCL):c.2022+5G>A
|
|
|
|
NM_014000.3(VCL):c.2022+5G>T
|
rs1050797785
|
|
|
NM_014000.3(VCL):c.2023-34_2023-4del
|
|
|
|
NM_014000.3(VCL):c.2030C>T (p.Ser677Leu)
|
rs770869561
|
|
|
NM_014000.3(VCL):c.2035G>T (p.Ala679Ser)
|
rs375392559
|
|
|
NM_014000.3(VCL):c.2039G>A (p.Arg680His)
|
rs1840094043
|
|
|
NM_014000.3(VCL):c.2044T>G (p.Leu682Val)
|
|
|
|
NM_014000.3(VCL):c.2056C>T (p.Pro686Ser)
|
|
|
|
NM_014000.3(VCL):c.2077G>C (p.Glu693Gln)
|
|
|
|
NM_014000.3(VCL):c.2089_2103del (p.Thr697_Gln701del)
|
|
|
|
NM_014000.3(VCL):c.208T>A (p.Leu70Met)
|
|
|
|
NM_014000.3(VCL):c.20G>A (p.Arg7His)
|
rs764871020
|
|
|
NM_014000.3(VCL):c.20G>T (p.Arg7Leu)
|
rs764871020
|
|
|
NM_014000.3(VCL):c.2110G>A (p.Asp704Asn)
|
rs1840094833
|
|
|
NM_014000.3(VCL):c.2112T>G (p.Asp704Glu)
|
|
|
|
NM_014000.3(VCL):c.2131+5A>C
|
rs530413701
|
|
|
NM_014000.3(VCL):c.2132-3C>A
|
rs1840110148
|
|
|
NM_014000.3(VCL):c.2137G>T (p.Val713Leu)
|
rs374737519
|
|
|
NM_014000.3(VCL):c.2142C>G (p.Asp714Glu)
|
rs373790383
|
|
|
NM_014000.3(VCL):c.2143G>A (p.Glu715Lys)
|
rs1022329091
|
|
|
NM_014000.3(VCL):c.2149A>G (p.Ile717Val)
|
rs2131928288
|
|
|
NM_014000.3(VCL):c.2159A>G (p.Lys720Arg)
|
|
|
|
NM_014000.3(VCL):c.2173G>A (p.Ala725Thr)
|
rs1554818884
|
|
|
NM_014000.3(VCL):c.217_218del (p.Asp73fs)
|
|
|
|
NM_014000.3(VCL):c.2183A>C (p.Glu728Ala)
|
|
|
|
NM_014000.3(VCL):c.2219C>T (p.Ala740Val)
|
|
|
|
NM_014000.3(VCL):c.2222T>C (p.Met741Thr)
|
|
|
|
NM_014000.3(VCL):c.2225C>A (p.Ala742Asp)
|
|
|
|
NM_014000.3(VCL):c.2243T>C (p.Met748Thr)
|
|
|
|
NM_014000.3(VCL):c.2255G>A (p.Gly752Glu)
|
rs2131928418
|
|
|
NM_014000.3(VCL):c.2255G>C (p.Gly752Ala)
|
|
|
|
NM_014000.3(VCL):c.2267T>G (p.Ile756Ser)
|
|
|
|
NM_014000.3(VCL):c.2268T>G (p.Ile756Met)
|
|
|
|
NM_014000.3(VCL):c.2272C>G (p.Arg758Gly)
|
|
|
|
NM_014000.3(VCL):c.2273G>C (p.Arg758Pro)
|
|
|
|
NM_014000.3(VCL):c.2275C>T (p.Arg759Trp)
|
|
|
|
NM_014000.3(VCL):c.2276G>A (p.Arg759Gln)
|
rs1425397914
|
|
|
NM_014000.3(VCL):c.2282A>G (p.Asn761Ser)
|
|
|
|
NM_014000.3(VCL):c.2293C>G (p.Leu765Val)
|
|
|
|
NM_014000.3(VCL):c.2309A>C (p.Glu770Ala)
|
|
|
|
NM_014000.3(VCL):c.2326G>A (p.Asp776Asn)
|
rs1212206964
|
|
|
NM_014000.3(VCL):c.2330C>T (p.Pro777Leu)
|
rs1564532927
|
|
|
NM_014000.3(VCL):c.2339G>A (p.Arg780His)
|
|
|
|
NM_014000.3(VCL):c.2357C>T (p.Ala786Val)
|
rs2131928566
|
|
|
NM_014000.3(VCL):c.2360C>T (p.Ser787Phe)
|
|
|
|
NM_014000.3(VCL):c.2365G>C (p.Glu789Gln)
|
|
|
|
NM_014000.3(VCL):c.236T>C (p.Ile79Thr)
|
|
|
|
NM_014000.3(VCL):c.2373C>G (p.Ser791Arg)
|
|
|
|
NM_014000.3(VCL):c.2380A>T (p.Ile794Phe)
|
|
|
|
NM_014000.3(VCL):c.2386C>A (p.Pro796Thr)
|
rs749471739
|
|
|
NM_014000.3(VCL):c.2386C>G (p.Pro796Ala)
|
rs749471739
|
|
|
NM_014000.3(VCL):c.2387del (p.Pro796fs)
|
rs1241654679
|
|
|
NM_014000.3(VCL):c.2388_2389delinsAG (p.Met797Val)
|
rs1840114333
|
|
|
NM_014000.3(VCL):c.239+6T>C
|
|
|
|
NM_014000.3(VCL):c.2393T>C (p.Val798Ala)
|
|
|
|
NM_014000.3(VCL):c.2395A>G (p.Met799Val)
|
|
|
|
NM_014000.3(VCL):c.2396T>G (p.Met799Arg)
|
|
|
|
NM_014000.3(VCL):c.240G>A (p.Lys80=)
|
|
|
|
NM_014000.3(VCL):c.2414C>T (p.Ala805Val)
|
rs765022798
|
|
|
NM_014000.3(VCL):c.2428G>T (p.Asp810Tyr)
|
|
|
|
NM_014000.3(VCL):c.2435-10T>C
|
rs201207594
|
|
|
NM_014000.3(VCL):c.2435-12del
|
|
|
|
NM_014000.3(VCL):c.2452C>G (p.Leu818Val)
|
|
|
|
NM_014000.3(VCL):c.2453T>A (p.Leu818Gln)
|
rs794727192
|
|
|
NM_014000.3(VCL):c.2455G>A (p.Asp819Asn)
|
|
|
|
NM_014000.3(VCL):c.245A>G (p.Glu82Gly)
|
rs1841649623
|
|
|
NM_014000.3(VCL):c.2465A>G (p.Tyr822Cys)
|
|
|
|
NM_014000.3(VCL):c.2480C>T (p.Ala827Val)
|
rs2131931375
|
|
|
NM_014000.3(VCL):c.2489A>G (p.Lys830Arg)
|
rs2131931381
|
|
|
NM_014000.3(VCL):c.2500G>C (p.Ala834Pro)
|
|
|
|
NM_014000.3(VCL):c.2509C>T (p.Pro837Ser)
|
|
|
|
NM_014000.3(VCL):c.2515G>C (p.Glu839Gln)
|
rs747152761
|
|
|
NM_014000.3(VCL):c.2518C>G (p.Pro840Ala)
|
|
|
|
NM_014000.3(VCL):c.2521G>A (p.Asp841Asn)
|
|
|
|
NM_014000.3(VCL):c.2528C>G (p.Pro843Arg)
|
|
|
|
NM_014000.3(VCL):c.2539C>G (p.Pro847Ala)
|
|
|
|
NM_014000.3(VCL):c.253T>C (p.Cys85Arg)
|
|
|
|
NM_014000.3(VCL):c.2541del (p.Asp848fs)
|
|
|
|
NM_014000.3(VCL):c.254G>T (p.Cys85Phe)
|
|
|
|
NM_014000.3(VCL):c.2554C>T (p.Leu852Phe)
|
|
|
|
NM_014000.3(VCL):c.2559+5_2559+8del
|
rs1840152081
|
|
|
NM_014000.3(VCL):c.2566G>A (p.Asp856Asn)
|
rs1554819202
|
|
|
NM_014000.3(VCL):c.2567A>G (p.Asp856Gly)
|
|
|
|
NM_014000.3(VCL):c.2579del (p.Pro860fs)
|
rs1840179829
|
|
|
NM_014000.3(VCL):c.2581C>T (p.Pro861Ser)
|
rs1024545153
|
|
|
NM_014000.3(VCL):c.2608G>A (p.Val870Ile)
|
|
|
|
NM_014000.3(VCL):c.2608G>T (p.Val870Phe)
|
|
|
|
NM_014000.3(VCL):c.262C>T (p.Leu88Phe)
|
rs2136272689
|
|
|
NM_014000.3(VCL):c.2639A>G (p.Glu880Gly)
|
|
|
|
NM_014000.3(VCL):c.2659G>A (p.Glu887Lys)
|
|
|
|
NM_014000.3(VCL):c.2671G>A (p.Gly891Arg)
|
rs2131933634
|
|
|
NM_014000.3(VCL):c.2690C>T (p.Pro897Leu)
|
rs921055002
|
|
|
NM_014000.3(VCL):c.2693T>C (p.Met898Thr)
|
|
|
|
NM_014000.3(VCL):c.2699T>C (p.Met900Thr)
|
rs1554819236
|
|
|
NM_014000.3(VCL):c.269A>T (p.Gln90Leu)
|
|
|
|
NM_014000.3(VCL):c.2704G>A (p.Ala902Thr)
|
|
|
|
NM_014000.3(VCL):c.271G>T (p.Ala91Ser)
|
|
|
|
NM_014000.3(VCL):c.2728C>G (p.Arg910Gly)
|
|
|
|
NM_014000.3(VCL):c.2728C>T (p.Arg910Cys)
|
rs375595550
|
|
|
NM_014000.3(VCL):c.2734T>G (p.Trp912Gly)
|
|
|
|
NM_014000.3(VCL):c.2745+1G>C
|
|
|
|
NM_014000.3(VCL):c.2745+6T>A
|
|
|
|
NM_014000.3(VCL):c.2775_2780del (p.Gly926_Val927del)
|
rs757018106
|
|
|
NM_014000.3(VCL):c.2806G>C (p.Ala936Pro)
|
rs1361057797
|
|
|
NM_014000.3(VCL):c.2809G>A (p.Ala937Thr)
|
rs1314540118
|
|
|
NM_014000.3(VCL):c.2823_2824delinsGT (p.Pro942Ser)
|
rs1060502196
|
|
|
NM_014000.3(VCL):c.2825C>A (p.Pro942His)
|
|
|
|
NM_014000.3(VCL):c.2827C>A (p.Pro943Thr)
|
rs71579375
|
|
|
NM_014000.3(VCL):c.2828C>A (p.Pro943His)
|
|
|
|
NM_014000.3(VCL):c.2828del (p.Pro943fs)
|
rs1840230101
|
|
|
NM_014000.3(VCL):c.282G>A (p.Met94Ile)
|
|
|
|
NM_014000.3(VCL):c.2835G>T (p.Met945Ile)
|
|
|
|
NM_014000.3(VCL):c.2845T>G (p.Tyr949Asp)
|
rs1840231278
|
|
|
NM_014000.3(VCL):c.2847C>G (p.Tyr949Ter)
|
rs770857763
|
|
|
NM_014000.3(VCL):c.2853del (p.Glu952fs)
|
rs878854972
|
|
|
NM_014000.3(VCL):c.2860C>A (p.Leu954Met)
|
|
|
|
NM_014000.3(VCL):c.2866A>G (p.Met956Val)
|
rs761830073
|
|
|
NM_014000.3(VCL):c.2873C>T (p.Ser958Phe)
|
|
|
|
NM_014000.3(VCL):c.2875A>G (p.Asn959Asp)
|
rs758969419
|
|
|
NM_014000.3(VCL):c.2882C>T (p.Pro961Leu)
|
rs754591130
|
|
|
NM_014000.3(VCL):c.2887A>C (p.Asn963His)
|
rs777702397
|
|
|
NM_014000.3(VCL):c.2906C>T (p.Ala969Val)
|
|
|
|
NM_014000.3(VCL):c.2911C>G (p.Gln971Glu)
|
rs2131937390
|
|
|
NM_014000.3(VCL):c.2919G>C (p.Leu973Phe)
|
rs2131937395
|
|
|
NM_014000.3(VCL):c.2920C>T (p.His974Tyr)
|
|
|
|
NM_014000.3(VCL):c.2924G>T (p.Arg975Leu)
|
rs767325003
|
|
|
NM_014000.3(VCL):c.2926G>T (p.Glu976Ter)
|
rs2131937409
|
|
|
NM_014000.3(VCL):c.2935A>G (p.Lys979Glu)
|
rs1591718331
|
|
|
NM_014000.3(VCL):c.2945G>A (p.Ser982Asn)
|
|
|
|
NM_014000.3(VCL):c.2948A>G (p.Lys983Arg)
|
|
|
|
NM_014000.3(VCL):c.2949+1G>A
|
rs1840234341
|
|
|
NM_014000.3(VCL):c.2977C>T (p.Arg993Cys)
|
rs1591719960
|
|
|
NM_014000.3(VCL):c.2978G>T (p.Arg993Leu)
|
rs1554819624
|
|
|
NM_014000.3(VCL):c.3008G>A (p.Arg1003Gln)
|
rs1085307604
|
|
|
NM_014000.3(VCL):c.3029G>A (p.Gly1010Asp)
|
rs2131939845
|
|
|
NM_014000.3(VCL):c.3039_3043dup (p.Leu1015fs)
|
rs748708754
|
|
|
NM_014000.3(VCL):c.3042del (p.Leu1015fs)
|
|
|
|
NM_014000.3(VCL):c.3065T>A (p.Ile1022Asn)
|
rs2131939873
|
|
|
NM_014000.3(VCL):c.3067G>A (p.Ala1023Thr)
|
|
|
|
NM_014000.3(VCL):c.3085G>T (p.Val1029Leu)
|
rs2131939894
|
|
|
NM_014000.3(VCL):c.3111_3112insGGCC (p.Lys1038fs)
|
rs2131939919
|
|
|
NM_014000.3(VCL):c.3140C>T (p.Thr1047Ile)
|
|
|
|
NM_014000.3(VCL):c.314G>A (p.Arg105Gln)
|
rs2136272720
|
|
|
NM_014000.3(VCL):c.314G>T (p.Arg105Leu)
|
|
|
|
NM_014000.3(VCL):c.3153+6C>T
|
|
|
|
NM_014000.3(VCL):c.3163C>T (p.Arg1055Ter)
|
rs727505159
|
|
|
NM_014000.3(VCL):c.3164G>A (p.Arg1055Gln)
|
rs878973480
|
|
|
NM_014000.3(VCL):c.3185A>C (p.Gln1062Pro)
|
|
|
|
NM_014000.3(VCL):c.319T>G (p.Tyr107Asp)
|
|
|
|
NM_014000.3(VCL):c.3233_3235del (p.Asn1078del)
|
|
|
|
NM_014000.3(VCL):c.3234C>A (p.Asn1078Lys)
|
|
|
|
NM_014000.3(VCL):c.3245A>C (p.Glu1082Ala)
|
rs1554819693
|
|
|
NM_014000.3(VCL):c.3250T>C (p.Ser1084Pro)
|
|
|
|
NM_014000.3(VCL):c.3253G>C (p.Glu1085Gln)
|
|
|
|
NM_014000.3(VCL):c.3256C>T (p.Gln1086Ter)
|
rs2131940805
|
|
|
NM_014000.3(VCL):c.3259-3C>T
|
rs751727109
|
|
|
NM_014000.3(VCL):c.327T>G (p.Ile109Met)
|
|
|
|
NM_014000.3(VCL):c.3288G>C (p.Gln1096His)
|
|
|
|
NM_014000.3(VCL):c.332G>A (p.Gly111Glu)
|
|
|
|
NM_014000.3(VCL):c.3349C>T (p.Arg1117Ter)
|
|
|
|
NM_014000.3(VCL):c.3358G>A (p.Ala1120Thr)
|
rs952929205
|
|
|
NM_014000.3(VCL):c.3368C>T (p.Thr1123Ile)
|
rs2131944412
|
|
|
NM_014000.3(VCL):c.370C>T (p.Leu124Phe)
|
rs1841652470
|
|
|
NM_014000.3(VCL):c.381T>A (p.Asp127Glu)
|
|
|
|
NM_014000.3(VCL):c.390+4G>A
|
rs1060502195
|
|
|
NM_014000.3(VCL):c.429A>C (p.Glu143Asp)
|
rs2136272893
|
|
|
NM_014000.3(VCL):c.437C>A (p.Thr146Lys)
|
rs1421034616
|
|
|
NM_014000.3(VCL):c.443C>T (p.Ala148Val)
|
rs1841656112
|
|
|
NM_014000.3(VCL):c.445G>A (p.Glu149Lys)
|
rs2136272902
|
|
|
NM_014000.3(VCL):c.448G>T (p.Val150Leu)
|
|
|
|
NM_014000.3(VCL):c.455A>G (p.Glu152Gly)
|
|
|
|
NM_014000.3(VCL):c.458C>T (p.Thr153Ile)
|
rs1554816691
|
|
|
NM_014000.3(VCL):c.461T>C (p.Met154Thr)
|
|
|
|
NM_014000.3(VCL):c.466G>T (p.Asp156Tyr)
|
|
|
|
NM_014000.3(VCL):c.472G>A (p.Val158Ile)
|
rs371583362
|
|
|
NM_014000.3(VCL):c.472G>T (p.Val158Phe)
|
|
|
|
NM_014000.3(VCL):c.473T>A (p.Val158Asp)
|
rs1591686988
|
|
|
NM_014000.3(VCL):c.486G>T (p.Lys162Asn)
|
rs1841656671
|
|
|
NM_014000.3(VCL):c.487A>G (p.Asn163Asp)
|
rs2136272931
|
|
|
NM_014000.3(VCL):c.4C>G (p.Pro2Ala)
|
|
|
|
NM_014000.3(VCL):c.511A>G (p.Met171Val)
|
rs758498714
|
|
|
NM_014000.3(VCL):c.530A>G (p.Glu177Gly)
|
|
|
|
NM_014000.3(VCL):c.536A>C (p.Gln179Pro)
|
rs1564523578
|
|
|
NM_014000.3(VCL):c.536A>G (p.Gln179Arg)
|
|
|
|
NM_014000.3(VCL):c.53A>G (p.Gln18Arg)
|
rs1840153312
|
|
|
NM_014000.3(VCL):c.565G>A (p.Val189Met)
|
rs151045204
|
|
|
NM_014000.3(VCL):c.565G>C (p.Val189Leu)
|
rs151045204
|
|
|
NM_014000.3(VCL):c.565G>T (p.Val189Leu)
|
rs151045204
|
|
|
NM_014000.3(VCL):c.578A>G (p.Asn193Ser)
|
|
|
|
NM_014000.3(VCL):c.584T>A (p.Met195Lys)
|
rs1841683400
|
|
|
NM_014000.3(VCL):c.585G>A (p.Met195Ile)
|
|
|
|
NM_014000.3(VCL):c.597del (p.Glu200fs)
|
rs777492997
|
|
|
NM_014000.3(VCL):c.622+4C>A
|
rs201020802
|
|
|
NM_014000.3(VCL):c.622+4C>G
|
rs201020802
|
|
|
NM_014000.3(VCL):c.625A>G (p.Met209Val)
|
rs144683137
|
|
|
NM_014000.3(VCL):c.626T>A (p.Met209Lys)
|
rs751243981
|
|
|
NM_014000.3(VCL):c.630G>T (p.Lys210Asn)
|
|
|
|
NM_014000.3(VCL):c.646A>G (p.Lys216Glu)
|
|
|
|
NM_014000.3(VCL):c.658_659del (p.Asn220fs)
|
rs397517245
|
|
|
NM_014000.3(VCL):c.664G>T (p.Gly222Cys)
|
rs1839556125
|
|
|
NM_014000.3(VCL):c.668T>C (p.Ile223Thr)
|
|
|
|
NM_014000.3(VCL):c.669A>G (p.Ile223Met)
|
|
|
|
NM_014000.3(VCL):c.671A>T (p.Glu224Val)
|
|
|
|
NM_014000.3(VCL):c.686dup (p.Asn229fs)
|
rs776583302
|
|
|
NM_014000.3(VCL):c.701T>C (p.Val234Ala)
|
rs757655707
|
|
|
NM_014000.3(VCL):c.704A>G (p.Glu235Gly)
|
|
|
|
NM_014000.3(VCL):c.709A>G (p.Met237Val)
|
rs1839557073
|
|
|
NM_014000.3(VCL):c.711G>A (p.Met237Ile)
|
|
|
|
NM_014000.3(VCL):c.730A>T (p.Ile244Leu)
|
|
|
|
NM_014000.3(VCL):c.736C>T (p.Arg246Cys)
|
rs794729194
|
|
|
NM_014000.3(VCL):c.747A>G (p.Gln249=)
|
|
|
|
NM_014000.3(VCL):c.768T>A (p.Asp256Glu)
|
rs56413529
|
|
|
NM_014000.3(VCL):c.769G>A (p.Ala257Thr)
|
rs1229013198
|
|
|
NM_014000.3(VCL):c.775del (p.Ala259fs)
|
|
|
|
NM_014000.3(VCL):c.77T>G (p.Met26Arg)
|
|
|
|
NM_014000.3(VCL):c.783+1G>A
|
rs1839558172
|
|
|
NM_014000.3(VCL):c.79C>G (p.His27Asp)
|
|
|
|
NM_014000.3(VCL):c.803G>A (p.Arg268Lys)
|
|
|
|
NM_014000.3(VCL):c.818T>C (p.Ile273Thr)
|
rs762380935
|
|
|
NM_014000.3(VCL):c.835C>T (p.Gln279Ter)
|
|
|
|
NM_014000.3(VCL):c.842A>G (p.Lys281Arg)
|
rs2136280307
|
|
|
NM_014000.3(VCL):c.849G>A (p.Trp283Ter)
|
rs2136280311
|
|
|
NM_014000.3(VCL):c.874+5C>T
|
rs1261609577
|
|
|
NM_014000.3(VCL):c.875G>T (p.Gly292Val)
|
rs763330709
|
|
|
NM_014000.3(VCL):c.887A>G (p.Glu296Gly)
|
|
|
|
NM_014000.3(VCL):c.923A>T (p.Lys308Ile)
|
|
|
|
NM_014000.3(VCL):c.924A>G (p.Lys308=)
|
|
|
|
NM_014000.3(VCL):c.949G>C (p.Glu317Gln)
|
|
|
|
NM_014000.3(VCL):c.953G>T (p.Arg318Leu)
|
rs1322859960
|
|
|
NM_014000.3(VCL):c.980T>C (p.Met327Thr)
|
|
|
|
NM_014000.3(VCL):c.986G>C (p.Gly329Ala)
|
|
|
|
NM_014000.3(VCL):c.98A>G (p.Asp33Gly)
|
rs1840154118
|
|
|
NM_014476.5(PDLIM3):c.-124_*1634dup2853
|
|
|
|
NM_014476.5(PDLIM3):c.-124_330+?dup454
|
|
|
|
NM_014476.6(PDLIM3):c.1033G>C (p.Ala345Pro)
|
rs373408599
|
|
|
NM_014476.6(PDLIM3):c.1040C>T (p.Ala347Val)
|
rs1179953014
|
|
|
NM_014476.6(PDLIM3):c.1043G>T (p.Arg348Leu)
|
rs764823333
|
|
|
NM_014476.6(PDLIM3):c.1063T>C (p.Tyr355His)
|
|
|
|
NM_014476.6(PDLIM3):c.1069A>G (p.Thr357Ala)
|
|
|
|
NM_014476.6(PDLIM3):c.1072G>A (p.Val358Ile)
|
rs1554037057
|
|
|
NM_014476.6(PDLIM3):c.107G>A (p.Ser36Asn)
|
rs2095730997
|
|
|
NM_014476.6(PDLIM3):c.1095A>G (p.Ter365=)
|
rs2095688280
|
|
|
NM_014476.6(PDLIM3):c.10A>C (p.Thr4Pro)
|
|
|
|
NM_014476.6(PDLIM3):c.127C>G (p.Leu43Val)
|
|
|
|
NM_014476.6(PDLIM3):c.131G>A (p.Cys44Tyr)
|
rs2095730947
|
|
|
NM_014476.6(PDLIM3):c.141T>A (p.Asp47Glu)
|
rs778943215
|
|
|
NM_014476.6(PDLIM3):c.14T>C (p.Val5Ala)
|
|
|
|
NM_014476.6(PDLIM3):c.161G>A (p.Gly54Asp)
|
|
|
|
NM_014476.6(PDLIM3):c.17T>A (p.Ile6Asn)
|
|
|
|
NM_014476.6(PDLIM3):c.19del (p.Leu7fs)
|
|
|
|
NM_014476.6(PDLIM3):c.210A>C (p.Lys70Asn)
|
|
|
|
NM_014476.6(PDLIM3):c.222C>G (p.His74Gln)
|
|
|
|
NM_014476.6(PDLIM3):c.23C>T (p.Pro8Leu)
|
|
|
|
NM_014476.6(PDLIM3):c.257A>G (p.His86Arg)
|
|
|
|
NM_014476.6(PDLIM3):c.25G>A (p.Gly9Ser)
|
rs2095752062
|
|
|
NM_014476.6(PDLIM3):c.260dup (p.Leu87fs)
|
rs2153337850
|
|
|
NM_014476.6(PDLIM3):c.264G>T (p.Trp88Cys)
|
rs770996211
|
|
|
NM_014476.6(PDLIM3):c.266C>G (p.Ser89Cys)
|
|
|
|
NM_014476.6(PDLIM3):c.269C>T (p.Pro90Leu)
|
|
|
|
NM_014476.6(PDLIM3):c.318del (p.Glu106fs)
|
rs2095726024
|
|
|
NM_014476.6(PDLIM3):c.319T>C (p.Ser107Pro)
|
|
|
|
NM_014476.6(PDLIM3):c.319_324del (p.Ser107_Glu108del)
|
|
|
|
NM_014476.6(PDLIM3):c.331-1G>A
|
rs745661778
|
|
|
NM_014476.6(PDLIM3):c.344T>A (p.Phe115Tyr)
|
rs1259450618
|
|
|
NM_014476.6(PDLIM3):c.347A>C (p.Glu116Ala)
|
|
|
|
NM_014476.6(PDLIM3):c.359A>G (p.Asn120Ser)
|
|
|
|
NM_014476.6(PDLIM3):c.364C>T (p.Arg122Trp)
|
|
|
|
NM_014476.6(PDLIM3):c.386C>T (p.Pro129Leu)
|
|
|
|
NM_014476.6(PDLIM3):c.388G>A (p.Gly130Ser)
|
rs2095711219
|
|
|
NM_014476.6(PDLIM3):c.398+5T>G
|
rs2153335451
|
|
|
NM_014476.6(PDLIM3):c.399-3_399-2del
|
rs772601097
|
|
|
NM_014476.6(PDLIM3):c.3G>A (p.Met1Ile)
|
|
|
|
NM_014476.6(PDLIM3):c.434G>A (p.Ser145Asn)
|
|
|
|
NM_014476.6(PDLIM3):c.475A>G (p.Ile159Val)
|
|
|
|
NM_014476.6(PDLIM3):c.485G>A (p.Gly162Asp)
|
|
|
|
NM_014476.6(PDLIM3):c.4C>A (p.Pro2Thr)
|
|
|
|
NM_014476.6(PDLIM3):c.500C>T (p.Ala167Val)
|
|
|
|
NM_014476.6(PDLIM3):c.503C>T (p.Ala168Val)
|
|
|
|
NM_014476.6(PDLIM3):c.505A>G (p.Lys169Glu)
|
|
|
|
NM_014476.6(PDLIM3):c.512C>G (p.Ala171Gly)
|
rs1580239536
|
|
|
NM_014476.6(PDLIM3):c.533T>C (p.Met178Thr)
|
rs566270712
|
|
|
NM_014476.6(PDLIM3):c.547G>T (p.Val183Leu)
|
rs765318874
|
|
|
NM_014476.6(PDLIM3):c.552G>C (p.Lys184Asn)
|
|
|
|
NM_014476.6(PDLIM3):c.554T>C (p.Ile185Thr)
|
rs2095701355
|
|
|
NM_014476.6(PDLIM3):c.563C>A (p.Ala188Asp)
|
|
|
|
NM_014476.6(PDLIM3):c.56G>C (p.Gly19Ala)
|
rs2095751946
|
|
|
NM_014476.6(PDLIM3):c.570T>G (p.Phe190Leu)
|
rs369885925
|
|
|
NM_014476.6(PDLIM3):c.58G>T (p.Gly20Cys)
|
rs1305441463
|
|
|
NM_014476.6(PDLIM3):c.602A>G (p.Asn201Ser)
|
|
|
|
NM_014476.6(PDLIM3):c.608T>C (p.Met203Thr)
|
|
|
|
NM_014476.6(PDLIM3):c.629T>C (p.Val210Ala)
|
|
|
|
NM_014476.6(PDLIM3):c.63del (p.Ile21fs)
|
|
|
|
NM_014476.6(PDLIM3):c.657G>T (p.Leu219Phe)
|
rs1561192175
|
|
|
NM_014476.6(PDLIM3):c.659T>A (p.Met220Lys)
|
rs375743721
|
|
|
NM_014476.6(PDLIM3):c.662G>T (p.Ser221Ile)
|
|
|
|
NM_014476.6(PDLIM3):c.663C>T (p.Ser221=)
|
|
|
|
NM_014476.6(PDLIM3):c.664G>T (p.Glu222Ter)
|
rs768821275
|
|
|
NM_014476.6(PDLIM3):c.667C>A (p.Pro223Thr)
|
rs2095697972
|
|
|
NM_014476.6(PDLIM3):c.673del (p.Ala225fs)
|
|
|
|
NM_014476.6(PDLIM3):c.674C>G (p.Ala225Gly)
|
rs2153332393
|
|
|
NM_014476.6(PDLIM3):c.67T>C (p.Phe23Leu)
|
|
|
|
NM_014476.6(PDLIM3):c.696C>G (p.Asp232Glu)
|
rs148256486
|
|
|
NM_014476.6(PDLIM3):c.697G>A (p.Val233Met)
|
rs143121072
|
|
|
NM_014476.6(PDLIM3):c.697G>T (p.Val233Leu)
|
|
|
|
NM_014476.6(PDLIM3):c.703C>G (p.Arg235Gly)
|
rs751273771
|
|
|
NM_014476.6(PDLIM3):c.703C>T (p.Arg235Trp)
|
|
|
|
NM_014476.6(PDLIM3):c.706A>C (p.Met236Leu)
|
|
|
|
NM_014476.6(PDLIM3):c.716A>G (p.Asp239Gly)
|
|
|
|
NM_014476.6(PDLIM3):c.722G>A (p.Arg241Gln)
|
|
|
|
NM_014476.6(PDLIM3):c.731C>A (p.Pro244His)
|
|
|
|
NM_014476.6(PDLIM3):c.73C>T (p.Gln25Ter)
|
|
|
|
NM_014476.6(PDLIM3):c.779T>G (p.Val260Gly)
|
rs1554037747
|
|
|
NM_014476.6(PDLIM3):c.784G>A (p.Asp262Asn)
|
|
|
|
NM_014476.6(PDLIM3):c.794-9_794-6del
|
|
|
|
NM_014476.6(PDLIM3):c.794A>G (p.Asp265Gly)
|
rs750061720
|
|
|
NM_014476.6(PDLIM3):c.800G>A (p.Arg267His)
|
|
|
|
NM_014476.6(PDLIM3):c.802C>A (p.Pro268Thr)
|
rs542630585
|
|
|
NM_014476.6(PDLIM3):c.805del (p.Ala269fs)
|
|
|
|
NM_014476.6(PDLIM3):c.815G>A (p.Arg272Gln)
|
|
|
|
NM_014476.6(PDLIM3):c.818G>A (p.Ser273Asn)
|
|
|
|
NM_014476.6(PDLIM3):c.830C>T (p.Pro277Leu)
|
|
|
|
NM_014476.6(PDLIM3):c.836C>A (p.Thr279Lys)
|
rs150070443
|
|
|
NM_014476.6(PDLIM3):c.845A>G (p.His282Arg)
|
|
|
|
NM_014476.6(PDLIM3):c.850G>A (p.Gly284Ser)
|
|
|
|
NM_014476.6(PDLIM3):c.851G>A (p.Gly284Asp)
|
|
|
|
NM_014476.6(PDLIM3):c.857_870del (p.Gly286fs)
|
|
|
|
NM_014476.6(PDLIM3):c.869G>A (p.Arg290Lys)
|
|
|
|
NM_014476.6(PDLIM3):c.875C>G (p.Pro292Arg)
|
rs200921332
|
|
|
NM_014476.6(PDLIM3):c.875C>T (p.Pro292Leu)
|
|
|
|
NM_014476.6(PDLIM3):c.882_883del (p.Cys294_Asp295delinsTer)
|
|
|
|
NM_014476.6(PDLIM3):c.887A>T (p.Lys296Ile)
|
|
|
|
NM_014476.6(PDLIM3):c.890G>A (p.Cys297Tyr)
|
rs768354891
|
|
|
NM_014476.6(PDLIM3):c.893G>A (p.Gly298Glu)
|
|
|
|
NM_014476.6(PDLIM3):c.899G>A (p.Gly300Asp)
|
|
|
|
NM_014476.6(PDLIM3):c.8A>G (p.Gln3Arg)
|
rs1227606973
|
|
|
NM_014476.6(PDLIM3):c.906-2A>G
|
|
|
|
NM_014476.6(PDLIM3):c.906-4A>G
|
|
|
|
NM_014476.6(PDLIM3):c.906-7C>G
|
rs2153330636
|
|
|
NM_014476.6(PDLIM3):c.908G>T (p.Gly303Val)
|
|
|
|
NM_014476.6(PDLIM3):c.916G>A (p.Val306Met)
|
rs1561187562
|
|
|
NM_014476.6(PDLIM3):c.917T>C (p.Val306Ala)
|
|
|
|
NM_014476.6(PDLIM3):c.923C>T (p.Ala308Val)
|
|
|
|
NM_014476.6(PDLIM3):c.92G>C (p.Arg31Thr)
|
|
|
|
NM_014476.6(PDLIM3):c.93+2_93+4del
|
rs2153340587
|
|
|
NM_014476.6(PDLIM3):c.946G>A (p.Glu316Lys)
|
|
|
|
NM_014476.6(PDLIM3):c.954C>G (p.Phe318Leu)
|
rs757507673
|
|
|
NM_014476.6(PDLIM3):c.955G>C (p.Val319Leu)
|
rs756047162
|
|
|
NM_014476.6(PDLIM3):c.956T>C (p.Val319Ala)
|
|
|
|
NM_014476.6(PDLIM3):c.963C>A (p.Ala321=)
|
rs148518020
|
|
|
NM_014476.6(PDLIM3):c.964G>T (p.Asp322Tyr)
|
rs774470984
|
|
|
NM_014476.6(PDLIM3):c.989A>C (p.Lys330Thr)
|
|
|
|
NM_014476.6(PDLIM3):c.992G>T (p.Gly331Val)
|
rs1060500600
|
|
|
NM_014908.3(DOLK):c.971_974delinsT (p.Ser324_Ser325delinsPhe)
|
rs1554826767
|
|
|
NM_014908.4(DOLK):c.1009C>G (p.Arg337Gly)
|
rs1276394817
|
|
|
NM_014908.4(DOLK):c.101T>C (p.Ile34Thr)
|
rs1554826863
|
|
|
NM_014908.4(DOLK):c.1028T>C (p.Ile343Thr)
|
|
|
|
NM_014908.4(DOLK):c.1039A>G (p.Thr347Ala)
|
|
|
|
NM_014908.4(DOLK):c.1045A>C (p.Ile349Leu)
|
|
|
|
NM_014908.4(DOLK):c.1058T>C (p.Ile353Thr)
|
rs2131127590
|
|
|
NM_014908.4(DOLK):c.1066C>T (p.Arg356Trp)
|
|
|
|
NM_014908.4(DOLK):c.106G>A (p.Ala36Thr)
|
rs1841688809
|
|
|
NM_014908.4(DOLK):c.1082T>C (p.Val361Ala)
|
|
|
|
NM_014908.4(DOLK):c.1089C>A (p.Ala363=)
|
|
|
|
NM_014908.4(DOLK):c.1090_1099del (p.Thr364fs)
|
rs2131127481
|
|
|
NM_014908.4(DOLK):c.109A>C (p.Thr37Pro)
|
|
|
|
NM_014908.4(DOLK):c.1103C>T (p.Ala368Val)
|
|
|
|
NM_014908.4(DOLK):c.1126G>A (p.Val376Met)
|
rs1841662463
|
|
|
NM_014908.4(DOLK):c.1138C>T (p.Arg380Cys)
|
rs775869216
|
|
|
NM_014908.4(DOLK):c.113T>C (p.Val38Ala)
|
|
|
|
NM_014908.4(DOLK):c.118G>A (p.Asp40Asn)
|
|
|
|
NM_014908.4(DOLK):c.1193A>G (p.Glu398Gly)
|
|
|
|
NM_014908.4(DOLK):c.1195C>G (p.Arg399Gly)
|
|
|
|
NM_014908.4(DOLK):c.1224C>T (p.His408=)
|
|
|
|
NM_014908.4(DOLK):c.1224_1225del (p.Ile409fs)
|
rs1223257193
|
|
|
NM_014908.4(DOLK):c.1227C>G (p.Ile409Met)
|
rs1841659405
|
|
|
NM_014908.4(DOLK):c.1229A>T (p.Tyr410Phe)
|
rs2131127216
|
|
|
NM_014908.4(DOLK):c.122G>A (p.Arg41Gln)
|
rs1841688531
|
|
|
NM_014908.4(DOLK):c.1235T>C (p.Leu412Pro)
|
rs1841659135
|
|
|
NM_014908.4(DOLK):c.1241G>A (p.Gly414Asp)
|
rs1554826737
|
|
|
NM_014908.4(DOLK):c.1245_1246del (p.Met415fs)
|
rs1841658916
|
|
|
NM_014908.4(DOLK):c.1257_1258del (p.Ile419fs)
|
|
|
|
NM_014908.4(DOLK):c.1267C>T (p.Pro423Ser)
|
rs1354312358
|
|
|
NM_014908.4(DOLK):c.1273C>T (p.Pro425Ser)
|
rs2131127164
|
|
|
NM_014908.4(DOLK):c.1275del (p.Cys426fs)
|
rs1401485925
|
|
|
NM_014908.4(DOLK):c.1278C>T (p.Cys426=)
|
|
|
|
NM_014908.4(DOLK):c.1282del (p.Gln428fs)
|
|
|
|
NM_014908.4(DOLK):c.1284G>C (p.Gln428His)
|
rs1458281229
|
|
|
NM_014908.4(DOLK):c.1288G>C (p.Gly430Arg)
|
rs140983401
|
|
|
NM_014908.4(DOLK):c.1300G>A (p.Gly434Arg)
|
rs2131127105
|
|
|
NM_014908.4(DOLK):c.1302_1311del (p.Ala435fs)
|
|
|
|
NM_014908.4(DOLK):c.1303G>A (p.Ala435Thr)
|
rs1306365829
|
|
|
NM_014908.4(DOLK):c.1327G>A (p.Gly443Ser)
|
|
|
|
NM_014908.4(DOLK):c.1330G>A (p.Val444Ile)
|
rs2131127044
|
|
|
NM_014908.4(DOLK):c.1332_1333dup (p.Leu445fs)
|
rs1287763056
|
|
|
NM_014908.4(DOLK):c.1344_1346dup (p.Val449_Gly450insVal)
|
|
|
|
NM_014908.4(DOLK):c.1348G>A (p.Gly450Ser)
|
|
|
|
NM_014908.4(DOLK):c.1352A>G (p.Asp451Gly)
|
|
|
|
NM_014908.4(DOLK):c.1363T>A (p.Ser455Thr)
|
|
|
|
NM_014908.4(DOLK):c.136G>A (p.Ala46Thr)
|
rs2131129267
|
|
|
NM_014908.4(DOLK):c.137C>T (p.Ala46Val)
|
rs1554826859
|
|
|
NM_014908.4(DOLK):c.1381A>G (p.Met461Val)
|
rs1199897936
|
|
|
NM_014908.4(DOLK):c.1383G>C (p.Met461Ile)
|
rs749027694
|
|
|
NM_014908.4(DOLK):c.1393C>T (p.Arg465Cys)
|
|
|
|
NM_014908.4(DOLK):c.1402G>A (p.Gly468Arg)
|
rs750308538
|
|
|
NM_014908.4(DOLK):c.1424G>T (p.Gly475Val)
|
rs1588261710
|
|
|
NM_014908.4(DOLK):c.1427_1428delinsTT (p.Thr476Ile)
|
|
|
|
NM_014908.4(DOLK):c.1429A>G (p.Met477Val)
|
rs763666338
|
|
|
NM_014908.4(DOLK):c.143C>T (p.Ala48Val)
|
rs1293227197
|
|
|
NM_014908.4(DOLK):c.1456T>A (p.Ser486Thr)
|
|
|
|
NM_014908.4(DOLK):c.1457C>T (p.Ser486Phe)
|
rs1180339847
|
|
|
NM_014908.4(DOLK):c.1462G>T (p.Ala488Ser)
|
rs1588261659
|
|
|
NM_014908.4(DOLK):c.148G>A (p.Ala50Thr)
|
rs2131129240
|
|
|
NM_014908.4(DOLK):c.1490T>C (p.Val497Ala)
|
rs1354195997
|
|
|
NM_014908.4(DOLK):c.1522G>T (p.Gly508Trp)
|
rs2131126776
|
|
|
NM_014908.4(DOLK):c.1525T>G (p.Ser509Ala)
|
|
|
|
NM_014908.4(DOLK):c.1528A>G (p.Ile510Val)
|
rs777422185
|
|
|
NM_014908.4(DOLK):c.1532G>A (p.Ser511Asn)
|
rs1178866364
|
|
|
NM_014908.4(DOLK):c.1569_1570insAATCT (p.Asp524fs)
|
rs2131126691
|
|
|
NM_014908.4(DOLK):c.156G>C (p.Gln52His)
|
rs1339562262
|
|
|
NM_014908.4(DOLK):c.1571A>T (p.Asp524Val)
|
|
|
|
NM_014908.4(DOLK):c.1574A>G (p.Asn525Ser)
|
|
|
|
NM_014908.4(DOLK):c.1576C>T (p.Leu526Phe)
|
|
|
|
NM_014908.4(DOLK):c.1578_1580del (p.Leu528del)
|
rs1841648901
|
|
|
NM_014908.4(DOLK):c.1600A>G (p.Ile534Val)
|
|
|
|
NM_014908.4(DOLK):c.1606C>G (p.Leu536Val)
|
|
|
|
NM_014908.4(DOLK):c.1616A>G (p.Ter539Trp)
|
|
|
|
NM_014908.4(DOLK):c.191T>C (p.Leu64Pro)
|
|
|
|
NM_014908.4(DOLK):c.196C>T (p.Gln66Ter)
|
rs876657785
|
|
|
NM_014908.4(DOLK):c.200G>A (p.Gly67Glu)
|
|
|
|
NM_014908.4(DOLK):c.202A>T (p.Ser68Cys)
|
rs2131129139
|
|
|
NM_014908.4(DOLK):c.206C>T (p.Ala69Val)
|
rs1554826850
|
|
|
NM_014908.4(DOLK):c.219C>G (p.Phe73Leu)
|
rs761385789
|
|
|
NM_014908.4(DOLK):c.22C>T (p.Pro8Ser)
|
rs565096448
|
|
|
NM_014908.4(DOLK):c.248C>T (p.Pro83Leu)
|
rs2131129046
|
|
|
NM_014908.4(DOLK):c.250G>T (p.Ala84Ser)
|
rs1841684950
|
|
|
NM_014908.4(DOLK):c.263T>C (p.Met88Thr)
|
rs1588262888
|
|
|
NM_014908.4(DOLK):c.26C>T (p.Ala9Val)
|
|
|
|
NM_014908.4(DOLK):c.277C>G (p.Leu93Val)
|
|
|
|
NM_014908.4(DOLK):c.302C>T (p.Thr101Ile)
|
rs1192393606
|
|
|
NM_014908.4(DOLK):c.304G>T (p.Ala102Ser)
|
rs1841683982
|
|
|
NM_014908.4(DOLK):c.305C>G (p.Ala102Gly)
|
|
|
|
NM_014908.4(DOLK):c.313C>A (p.Pro105Thr)
|
rs1454594732
|
|
|
NM_014908.4(DOLK):c.313C>T (p.Pro105Ser)
|
|
|
|
NM_014908.4(DOLK):c.324G>C (p.Glu108Asp)
|
rs1841683382
|
|
|
NM_014908.4(DOLK):c.325C>A (p.Arg109Ser)
|
rs755188614
|
|
|
NM_014908.4(DOLK):c.325C>G (p.Arg109Gly)
|
rs755188614
|
|
|
NM_014908.4(DOLK):c.325C>T (p.Arg109Cys)
|
rs755188614
|
|
|
NM_014908.4(DOLK):c.330T>G (p.Phe110Leu)
|
|
|
|
NM_014908.4(DOLK):c.332G>A (p.Gly111Asp)
|
|
|
|
NM_014908.4(DOLK):c.34C>A (p.Pro12Thr)
|
rs2131129450
|
|
|
NM_014908.4(DOLK):c.355A>G (p.Met119Val)
|
rs2131128868
|
|
|
NM_014908.4(DOLK):c.367C>T (p.Leu123Phe)
|
|
|
|
NM_014908.4(DOLK):c.376T>G (p.Ser126Ala)
|
rs1564546286
|
|
|
NM_014908.4(DOLK):c.400C>T (p.Arg134Cys)
|
|
|
|
NM_014908.4(DOLK):c.407T>C (p.Val136Ala)
|
rs1306944564
|
|
|
NM_014908.4(DOLK):c.409C>T (p.Pro137Ser)
|
rs2131128759
|
|
|
NM_014908.4(DOLK):c.433G>T (p.Gly145Cys)
|
|
|
|
NM_014908.4(DOLK):c.446G>A (p.Gly149Asp)
|
|
|
|
NM_014908.4(DOLK):c.460A>G (p.Ile154Val)
|
rs1841679811
|
|
|
NM_014908.4(DOLK):c.464T>C (p.Met155Thr)
|
rs2131128665
|
|
|
NM_014908.4(DOLK):c.470A>C (p.His157Pro)
|
rs145050630
|
|
|
NM_014908.4(DOLK):c.477G>C (p.Leu159Phe)
|
|
|
|
NM_014908.4(DOLK):c.481G>T (p.Val161Leu)
|
rs769800558
|
|
|
NM_014908.4(DOLK):c.490G>A (p.Val164Met)
|
rs767933821
|
|
|
NM_014908.4(DOLK):c.502_522del (p.Leu168_Phe174del)
|
|
|
|
NM_014908.4(DOLK):c.507A>T (p.Glu169Asp)
|
rs1841678421
|
|
|
NM_014908.4(DOLK):c.520T>C (p.Phe174Leu)
|
|
|
|
NM_014908.4(DOLK):c.521T>G (p.Phe174Cys)
|
rs2131128535
|
|
|
NM_014908.4(DOLK):c.559C>T (p.Arg187Cys)
|
|
|
|
NM_014908.4(DOLK):c.560G>A (p.Arg187His)
|
rs377658203
|
|
|
NM_014908.4(DOLK):c.565T>A (p.Phe189Ile)
|
rs2131128464
|
|
|
NM_014908.4(DOLK):c.56C>T (p.Ser19Leu)
|
|
|
|
NM_014908.4(DOLK):c.572C>G (p.Pro191Arg)
|
rs767965852
|
|
|
NM_014908.4(DOLK):c.591_592dup (p.Leu198fs)
|
|
|
|
NM_014908.4(DOLK):c.59T>G (p.Val20Gly)
|
|
|
|
NM_014908.4(DOLK):c.611T>C (p.Val204Ala)
|
rs1554826810
|
|
|
NM_014908.4(DOLK):c.620A>C (p.Gln207Pro)
|
rs2131128386
|
|
|
NM_014908.4(DOLK):c.64G>A (p.Ala22Thr)
|
rs2131129407
|
|
|
NM_014908.4(DOLK):c.656del (p.Gln219fs)
|
rs2131128315
|
|
|
NM_014908.4(DOLK):c.664C>T (p.Pro222Ser)
|
|
|
|
NM_014908.4(DOLK):c.684GGT[2] (p.Val232del)
|
rs1841674220
|
|
|
NM_014908.4(DOLK):c.702G>A (p.Met234Ile)
|
|
|
|
NM_014908.4(DOLK):c.702G>C (p.Met234Ile)
|
rs746656818
|
|
|
NM_014908.4(DOLK):c.731dup (p.Phe245fs)
|
rs1588262474
|
|
|
NM_014908.4(DOLK):c.736G>C (p.Val246Leu)
|
rs1029841868
|
|
|
NM_014908.4(DOLK):c.743T>C (p.Met248Thr)
|
|
|
|
NM_014908.4(DOLK):c.758G>C (p.Trp253Ser)
|
rs2131128090
|
|
|
NM_014908.4(DOLK):c.771C>G (p.Ile257Met)
|
rs147416890
|
|
|
NM_014908.4(DOLK):c.781C>A (p.Leu261Ile)
|
|
|
|
NM_014908.4(DOLK):c.787A>T (p.Thr263Ser)
|
rs2131128060
|
|
|
NM_014908.4(DOLK):c.800G>T (p.Ser267Ile)
|
|
|
|
NM_014908.4(DOLK):c.829C>T (p.Arg277Trp)
|
rs1253487442
|
|
|
NM_014908.4(DOLK):c.859C>T (p.Leu287Phe)
|
rs1841670200
|
|
|
NM_014908.4(DOLK):c.860TTC[1] (p.Leu288del)
|
rs773789842
|
|
|
NM_014908.4(DOLK):c.889C>T (p.Arg297Cys)
|
|
|
|
NM_014908.4(DOLK):c.890G>A (p.Arg297His)
|
|
|
|
NM_014908.4(DOLK):c.931G>T (p.Ala311Ser)
|
rs1554826773
|
|
|
NM_014908.4(DOLK):c.941T>C (p.Val314Ala)
|
|
|
|
NM_014908.4(DOLK):c.956A>G (p.Asn319Ser)
|
|
|
|
NM_014908.4(DOLK):c.962A>G (p.Lys321Arg)
|
rs1841666950
|
|
|
NM_014908.4(DOLK):c.965G>A (p.Arg322Gln)
|
|
|
|
NM_014908.4(DOLK):c.968C>T (p.Ser323Leu)
|
rs2131127724
|
|
|
NM_014908.4(DOLK):c.96G>A (p.Leu32=)
|
|
|
|
NM_014908.4(DOLK):c.971C>T (p.Ser324Phe)
|
|
|
|
NM_014908.4(DOLK):c.977A>T (p.Glu326Val)
|
rs1841666209
|
|
|
NM_014908.4(DOLK):c.98G>T (p.Ser33Ile)
|
|
|
|
NM_014908.4(DOLK):c.993G>C (p.Gln331His)
|
rs1841665962
|
|
|
NM_015374.3(SUN2):c.1013G>A (p.Arg338His)
|
|
|
|
NM_015374.3(SUN2):c.1015C>T (p.Arg339Cys)
|
|
|
|
NM_015374.3(SUN2):c.1016G>T (p.Arg339Leu)
|
|
|
|
NM_015374.3(SUN2):c.1057G>A (p.Ala353Thr)
|
|
|
|
NM_015374.3(SUN2):c.1058C>G (p.Ala353Gly)
|
|
|
|
NM_015374.3(SUN2):c.1060C>T (p.Arg354Cys)
|
|
|
|
NM_015374.3(SUN2):c.1072G>C (p.Glu358Gln)
|
rs2092858191
|
|
|
NM_015374.3(SUN2):c.1081G>T (p.Ala361Ser)
|
rs2092858095
|
|
|
NM_015374.3(SUN2):c.1090G>C (p.Ala364Pro)
|
rs2145970738
|
|
|
NM_015374.3(SUN2):c.1110AGA[1] (p.Glu371del)
|
rs1448167208
|
|
|
NM_015374.3(SUN2):c.1114G>T (p.Asp372Tyr)
|
|
|
|
NM_015374.3(SUN2):c.1115A>G (p.Asp372Gly)
|
|
|
|
NM_015374.3(SUN2):c.1146+3C>A
|
rs2092857349
|
|
|
NM_015374.3(SUN2):c.1184G>A (p.Trp395Ter)
|
|
|
|
NM_015374.3(SUN2):c.1190+4C>A
|
|
|
|
NM_015374.3(SUN2):c.1191-3C>T
|
rs2145957103
|
|
|
NM_015374.3(SUN2):c.1251G>C (p.Gln417His)
|
|
|
|
NM_015374.3(SUN2):c.1261C>G (p.Leu421Val)
|
rs780688397
|
|
|
NM_015374.3(SUN2):c.1307C>T (p.Ala436Val)
|
|
|
|
NM_015374.3(SUN2):c.1345G>C (p.Val449Leu)
|
rs117350165
|
|
|
NM_015374.3(SUN2):c.1348C>T (p.Arg450Trp)
|
|
|
|
NM_015374.3(SUN2):c.1352A>G (p.Asp451Gly)
|
rs2092844667
|
|
|
NM_015374.3(SUN2):c.1396G>A (p.Ala466Thr)
|
|
|
|
NM_015374.3(SUN2):c.1399C>G (p.Arg467Gly)
|
|
|
|
NM_015374.3(SUN2):c.1400G>A (p.Arg467Gln)
|
|
|
|
NM_015374.3(SUN2):c.1406G>C (p.Gly469Ala)
|
|
|
|
NM_015374.3(SUN2):c.1409G>C (p.Gly470Ala)
|
|
|
|
NM_015374.3(SUN2):c.1414C>T (p.Arg472Cys)
|
|
|
|
NM_015374.3(SUN2):c.1421_1429del (p.Gly474_Gln477delinsGlu)
|
rs2145950062
|
|
|
NM_015374.3(SUN2):c.1435G>C (p.Glu479Gln)
|
|
|
|
NM_015374.3(SUN2):c.1510G>C (p.Ala504Pro)
|
|
|
|
NM_015374.3(SUN2):c.154C>T (p.Arg52Cys)
|
|
|
|
NM_015374.3(SUN2):c.1562T>C (p.Ile521Thr)
|
|
|
|
NM_015374.3(SUN2):c.1579-16G>A
|
|
|
|
NM_015374.3(SUN2):c.1579C>G (p.Gln527Glu)
|
|
|
|
NM_015374.3(SUN2):c.1585C>T (p.His529Tyr)
|
|
|
|
NM_015374.3(SUN2):c.1612C>T (p.Arg538Cys)
|
rs2092835149
|
|
|
NM_015374.3(SUN2):c.1648G>A (p.Ala550Thr)
|
|
|
|
NM_015374.3(SUN2):c.1663+4C>G
|
|
|
|
NM_015374.3(SUN2):c.1663+5G>A
|
|
|
|
NM_015374.3(SUN2):c.1672G>A (p.Val558Ile)
|
|
|
|
NM_015374.3(SUN2):c.167C>T (p.Ala56Val)
|
|
|
|
NM_015374.3(SUN2):c.1691C>G (p.Ser564Cys)
|
rs1352285124
|
|
|
NM_015374.3(SUN2):c.1702G>A (p.Glu568Lys)
|
|
|
|
NM_015374.3(SUN2):c.1765C>T (p.Arg589Ter)
|
|
|
|
NM_015374.3(SUN2):c.1797C>T (p.Gly599=)
|
rs749129041
|
|
|
NM_015374.3(SUN2):c.1807G>A (p.Ala603Thr)
|
rs1384723835
|
|
|
NM_015374.3(SUN2):c.1826G>C (p.Gly609Ala)
|
rs949979981
|
|
|
NM_015374.3(SUN2):c.182C>T (p.Pro61Leu)
|
|
|
|
NM_015374.3(SUN2):c.1838T>C (p.Val613Ala)
|
|
|
|
NM_015374.3(SUN2):c.1840C>T (p.Arg614Cys)
|
|
|
|
NM_015374.3(SUN2):c.1841G>A (p.Arg614His)
|
|
|
|
NM_015374.3(SUN2):c.185C>G (p.Ser62Cys)
|
|
|
|
NM_015374.3(SUN2):c.1886T>C (p.Val629Ala)
|
rs2092828049
|
|
|
NM_015374.3(SUN2):c.1894G>A (p.Ala632Thr)
|
rs1021027363
|
|
|
NM_015374.3(SUN2):c.1921A>T (p.Ser641Cys)
|
rs2092827661
|
|
|
NM_015374.3(SUN2):c.1940C>T (p.Ala647Val)
|
|
|
|
NM_015374.3(SUN2):c.1972G>A (p.Glu658Lys)
|
|
|
|
NM_015374.3(SUN2):c.19C>T (p.Arg7Cys)
|
|
|
|
NM_015374.3(SUN2):c.2013C>T (p.Gly671=)
|
|
|
|
NM_015374.3(SUN2):c.2017C>A (p.Pro673Thr)
|
|
|
|
NM_015374.3(SUN2):c.2032C>T (p.His678Tyr)
|
rs771616583
|
|
|
NM_015374.3(SUN2):c.2040+19_2040+21delinsGCGTACCTGGGCAGATGCAGGTACGGGAT
|
|
|
|
NM_015374.3(SUN2):c.2040+5G>A
|
|
|
|
NM_015374.3(SUN2):c.2048C>T (p.Thr683Met)
|
|
|
|
NM_015374.3(SUN2):c.2053del (p.Ala685fs)
|
rs1264903354
|
|
|
NM_015374.3(SUN2):c.2073G>C (p.Glu691Asp)
|
|
|
|
NM_015374.3(SUN2):c.2078G>A (p.Arg693Gln)
|
rs137996727
|
|
|
NM_015374.3(SUN2):c.2078G>T (p.Arg693Leu)
|
|
|
|
NM_015374.3(SUN2):c.2094G>C (p.Trp698Cys)
|
|
|
|
NM_015374.3(SUN2):c.20G>A (p.Arg7His)
|
|
|
|
NM_015374.3(SUN2):c.2104G>A (p.Glu702Lys)
|
|
|
|
NM_015374.3(SUN2):c.2104G>C (p.Glu702Gln)
|
|
|
|
NM_015374.3(SUN2):c.2122C>T (p.Arg708Cys)
|
|
|
|
NM_015374.3(SUN2):c.2140G>A (p.Glu714Lys)
|
rs2092804001
|
|
|
NM_015374.3(SUN2):c.2147C>A (p.Ala716Asp)
|
|
|
|
NM_015374.3(SUN2):c.2151C>A (p.His717Gln)
|
rs917841252
|
|
|
NM_015374.3(SUN2):c.218C>T (p.Ser73Leu)
|
|
|
|
NM_015374.3(SUN2):c.229G>A (p.Glu77Lys)
|
|
|
|
NM_015374.3(SUN2):c.245C>A (p.Pro82His)
|
rs2092943711
|
|
|
NM_015374.3(SUN2):c.254C>A (p.Ser85Tyr)
|
|
|
|
NM_015374.3(SUN2):c.286+3G>C
|
rs539528181
|
|
|
NM_015374.3(SUN2):c.299G>A (p.Arg100Gln)
|
|
|
|
NM_015374.3(SUN2):c.306GAG[2] (p.Arg105del)
|
rs774003824
|
|
|
NM_015374.3(SUN2):c.309G>T (p.Arg103Ser)
|
|
|
|
NM_015374.3(SUN2):c.311G>A (p.Arg104Lys)
|
|
|
|
NM_015374.3(SUN2):c.320C>G (p.Thr107Arg)
|
rs775966191
|
|
|
NM_015374.3(SUN2):c.415G>A (p.Asp139Asn)
|
rs764864329
|
|
|
NM_015374.3(SUN2):c.425-3C>T
|
rs368321480
|
|
|
NM_015374.3(SUN2):c.437T>C (p.Val146Ala)
|
|
|
|
NM_015374.3(SUN2):c.437T>G (p.Val146Gly)
|
rs777319339
|
|
|
NM_015374.3(SUN2):c.449G>C (p.Ser150Thr)
|
|
|
|
NM_015374.3(SUN2):c.451T>G (p.Ser151Ala)
|
|
|
|
NM_015374.3(SUN2):c.452C>G (p.Ser151Cys)
|
|
|
|
NM_015374.3(SUN2):c.460C>T (p.Arg154Trp)
|
rs150906372
|
|
|
NM_015374.3(SUN2):c.470G>A (p.Ser157Asn)
|
rs1556013290
|
|
|
NM_015374.3(SUN2):c.482G>A (p.Arg161Gln)
|
|
|
|
NM_015374.3(SUN2):c.520G>C (p.Gly174Arg)
|
rs1390604251
|
|
|
NM_015374.3(SUN2):c.539T>C (p.Leu180Pro)
|
rs2092930754
|
|
|
NM_015374.3(SUN2):c.550G>T (p.Ala184Ser)
|
rs2092930608
|
|
|
NM_015374.3(SUN2):c.55A>G (p.Ser19Gly)
|
|
|
|
NM_015374.3(SUN2):c.55AGC[3] (p.Ser22del)
|
rs781129819
|
|
|
NM_015374.3(SUN2):c.569G>T (p.Arg190Leu)
|
rs149088273
|
|
|
NM_015374.3(SUN2):c.614+3G>A
|
rs2146065638
|
|
|
NM_015374.3(SUN2):c.617G>T (p.Arg206Leu)
|
rs568825133
|
|
|
NM_015374.3(SUN2):c.671C>T (p.Thr224Met)
|
|
|
|
NM_015374.3(SUN2):c.688G>C (p.Ala230Pro)
|
|
|
|
NM_015374.3(SUN2):c.736G>A (p.Val246Ile)
|
|
|
|
NM_015374.3(SUN2):c.74G>A (p.Ser25Asn)
|
|
|
|
NM_015374.3(SUN2):c.752C>G (p.Ala251Gly)
|
rs1051031562
|
|
|
NM_015374.3(SUN2):c.752C>T (p.Ala251Val)
|
|
|
|
NM_015374.3(SUN2):c.778G>A (p.Gly260Ser)
|
|
|
|
NM_015374.3(SUN2):c.791G>A (p.Arg264Lys)
|
rs901495726
|
|
|
NM_015374.3(SUN2):c.799T>C (p.Ser267Pro)
|
|
|
|
NM_015374.3(SUN2):c.823C>T (p.Arg275Cys)
|
|
|
|
NM_015374.3(SUN2):c.874G>A (p.Ala292Thr)
|
rs2145981465
|
|
|
NM_015374.3(SUN2):c.920G>A (p.Arg307His)
|
|
|
|
NM_015374.3(SUN2):c.929T>C (p.Leu310Pro)
|
|
|
|
NM_015374.3(SUN2):c.92A>G (p.Gln31Arg)
|
|
|
|
NM_015374.3(SUN2):c.952G>A (p.Gly318Arg)
|
rs762660159
|
|
|
NM_015374.3(SUN2):c.988G>C (p.Ala330Pro)
|
|
|
|
NM_015374.3(SUN2):c.989C>T (p.Ala330Val)
|
rs564884199
|
|
|
NM_015374.3(SUN2):c.992T>C (p.Leu331Pro)
|
|
|
|
NM_016203.3(PRKAG2):c.1053_1067delGCTTTATTTACAAGA
|
rs1584964948
|
|
|
NM_016203.4(PRKAG2):c.1005+6T>C
|
rs1554464077
|
|
|
NM_016203.4(PRKAG2):c.1006G>A (p.Val336Ile)
|
rs727504707
|
|
|
NM_016203.4(PRKAG2):c.1015T>A (p.Tyr339Asn)
|
rs1807867041
|
|
|
NM_016203.4(PRKAG2):c.1024G>A (p.Glu342Lys)
|
rs2151024095
|
|
|
NM_016203.4(PRKAG2):c.1031A>G (p.His344Arg)
|
rs2151024054
|
|
|
NM_016203.4(PRKAG2):c.1040A>G (p.Glu347Gly)
|
rs760258924
|
|
|
NM_016203.4(PRKAG2):c.1049G>A (p.Arg350Lys)
|
rs1330644534
|
|
|
NM_016203.4(PRKAG2):c.1050G>A (p.Arg350=)
|
rs2151023937
|
|
|
NM_016203.4(PRKAG2):c.1051+6C>G
|
|
|
|
NM_016203.4(PRKAG2):c.1051_1051+2dup
|
rs2151023914
|
|
|
NM_016203.4(PRKAG2):c.1055T>C (p.Leu352Pro)
|
|
|
|
NM_016203.4(PRKAG2):c.1058A>G (p.Tyr353Cys)
|
rs1554459431
|
|
|
NM_016203.4(PRKAG2):c.1060T>G (p.Leu354Val)
|
rs1554459423
|
|
|
NM_016203.4(PRKAG2):c.1070C>T (p.Thr357Ile)
|
rs1227002684
|
|
|
NM_016203.4(PRKAG2):c.107A>G (p.His36Arg)
|
rs2080409943
|
|
|
NM_016203.4(PRKAG2):c.1100A>G (p.Asp367Gly)
|
rs1807219152
|
|
|
NM_016203.4(PRKAG2):c.1102G>T (p.Ala368Ser)
|
rs769212614
|
|
|
NM_016203.4(PRKAG2):c.1106+4A>C
|
rs912304170
|
|
|
NM_016203.4(PRKAG2):c.1107-3C>T
|
rs2151008803
|
|
|
NM_016203.4(PRKAG2):c.1108C>T (p.Leu370Phe)
|
|
|
|
NM_016203.4(PRKAG2):c.1114G>C (p.Asp372His)
|
rs760826751
|
|
|
NM_016203.4(PRKAG2):c.114+3G>A
|
rs2151920361
|
|
|
NM_016203.4(PRKAG2):c.114G>C (p.Pro38=)
|
rs397517261
|
|
|
NM_016203.4(PRKAG2):c.1164T>G (p.Ile388Met)
|
|
|
|
NM_016203.4(PRKAG2):c.1169C>T (p.Pro390Leu)
|
rs2151008453
|
|
|
NM_016203.4(PRKAG2):c.1183G>C (p.Ala395Pro)
|
|
|
|
NM_016203.4(PRKAG2):c.1184C>T (p.Ala395Val)
|
rs1806859703
|
|
|
NM_016203.4(PRKAG2):c.1198A>G (p.Thr400Ala)
|
rs1554457901
|
|
|
NM_016203.4(PRKAG2):c.119T>C (p.Leu40Pro)
|
|
|
|
NM_016203.4(PRKAG2):c.11C>T (p.Ala4Val)
|
rs2151920498
|
|
|
NM_016203.4(PRKAG2):c.1233+1G>C
|
|
|
|
NM_016203.4(PRKAG2):c.1247C>T (p.Pro416Leu)
|
|
|
|
NM_016203.4(PRKAG2):c.125C>T (p.Ser42Phe)
|
|
|
|
NM_016203.4(PRKAG2):c.1279G>A (p.Glu427Lys)
|
rs1806121695
|
|
|
NM_016203.4(PRKAG2):c.1289T>C (p.Ile430Thr)
|
|
|
|
NM_016203.4(PRKAG2):c.1289T>G (p.Ile430Arg)
|
|
|
|
NM_016203.4(PRKAG2):c.1294A>G (p.Thr432Ala)
|
rs2150996293
|
|
|
NM_016203.4(PRKAG2):c.129C>A (p.Phe43Leu)
|
|
|
|
NM_016203.4(PRKAG2):c.1306A>G (p.Ile436Val)
|
|
|
|
NM_016203.4(PRKAG2):c.1310C>G (p.Ala437Gly)
|
rs762111172
|
|
|
NM_016203.4(PRKAG2):c.1319A>G (p.His440Arg)
|
rs1806111411
|
|
|
NM_016203.4(PRKAG2):c.1333A>G (p.Ile445Val)
|
rs1344209675
|
|
|
NM_016203.4(PRKAG2):c.1337T>G (p.Ile446Ser)
|
rs1554455087
|
|
|
NM_016203.4(PRKAG2):c.1340A>G (p.Lys447Arg)
|
|
|
|
NM_016203.4(PRKAG2):c.134T>A (p.Met45Lys)
|
|
|
|
NM_016203.4(PRKAG2):c.1355T>C (p.Phe452Ser)
|
|
|
|
NM_016203.4(PRKAG2):c.1358T>C (p.Val453Ala)
|
|
|
|
NM_016203.4(PRKAG2):c.1366C>G (p.Arg456Gly)
|
rs779098740
|
|
|
NM_016203.4(PRKAG2):c.1378C>G (p.Leu460Val)
|
rs878855018
|
|
|
NM_016203.4(PRKAG2):c.1392T>A (p.Asp464Glu)
|
rs2150995495
|
|
|
NM_016203.4(PRKAG2):c.1393G>A (p.Glu465Lys)
|
|
|
|
NM_016203.4(PRKAG2):c.1395_1396del (p.Glu465fs)
|
|
|
|
NM_016203.4(PRKAG2):c.1407_1408delinsGA (p.Val470Ile)
|
rs1806009426
|
|
|
NM_016203.4(PRKAG2):c.1420T>G (p.Ser474Ala)
|
rs1806007620
|
|
|
NM_016203.4(PRKAG2):c.1436T>C (p.Ile479Thr)
|
rs1806004431
|
|
|
NM_016203.4(PRKAG2):c.1437+6T>C
|
|
|
|
NM_016203.4(PRKAG2):c.1444G>A (p.Ala482Thr)
|
rs2150988951
|
|
|
NM_016203.4(PRKAG2):c.145G>A (p.Asp49Asn)
|
|
|
|
NM_016203.4(PRKAG2):c.1460A>G (p.Tyr487Cys)
|
rs1805709675
|
|
|
NM_016203.4(PRKAG2):c.1466del (p.Asn489fs)
|
rs1584934953
|
|
|
NM_016203.4(PRKAG2):c.1471G>C (p.Asp491His)
|
rs730880981
|
|
|
NM_016203.4(PRKAG2):c.1472A>G (p.Asp491Gly)
|
|
|
|
NM_016203.4(PRKAG2):c.147C>A (p.Asp49Glu)
|
rs761196275
|
|
|
NM_016203.4(PRKAG2):c.1480G>T (p.Val494Leu)
|
|
|
|
NM_016203.4(PRKAG2):c.1498C>T (p.His500Tyr)
|
rs1584934806
|
|
|
NM_016203.4(PRKAG2):c.1534A>C (p.Asn512His)
|
|
|
|
NM_016203.4(PRKAG2):c.1535A>G (p.Asn512Ser)
|
rs766113743
|
|
|
NM_016203.4(PRKAG2):c.1535A>T (p.Asn512Ile)
|
rs766113743
|
|
|
NM_016203.4(PRKAG2):c.1545A>T (p.Glu515Asp)
|
rs2150988575
|
|
|
NM_016203.4(PRKAG2):c.154C>G (p.Leu52Val)
|
|
|
|
NM_016203.4(PRKAG2):c.1555A>G (p.Thr519Ala)
|
rs1060503024
|
|
|
NM_016203.4(PRKAG2):c.1564G>A (p.Asp522Asn)
|
rs199985555
|
|
|
NM_016203.4(PRKAG2):c.1565A>G (p.Asp522Gly)
|
rs2150988481
|
|
|
NM_016203.4(PRKAG2):c.1571T>G (p.Ile524Arg)
|
rs1563141020
|
|
|
NM_016203.4(PRKAG2):c.1574T>A (p.Val525Glu)
|
|
|
|
NM_016203.4(PRKAG2):c.157G>A (p.Glu53Lys)
|
|
|
|
NM_016203.4(PRKAG2):c.1584+3G>A
|
|
|
|
NM_016203.4(PRKAG2):c.1603G>A (p.Val535Ile)
|
|
|
|
NM_016203.4(PRKAG2):c.1615G>A (p.Asp539Asn)
|
rs1804709862
|
|
|
NM_016203.4(PRKAG2):c.1625T>C (p.Val542Ala)
|
|
|
|
NM_016203.4(PRKAG2):c.1631T>C (p.Ile544Thr)
|
rs1804703888
|
|
|
NM_016203.4(PRKAG2):c.1639C>G (p.Leu547Val)
|
|
|
|
NM_016203.4(PRKAG2):c.1642T>A (p.Ser548Thr)
|
rs267606979
|
|
|
NM_016203.4(PRKAG2):c.1642T>C (p.Ser548Pro)
|
rs267606979
|
|
|
NM_016203.4(PRKAG2):c.1663A>T (p.Ile555Phe)
|
rs1563131128
|
|
|
NM_016203.4(PRKAG2):c.1666C>G (p.Leu556Val)
|
|
|
|
NM_016203.4(PRKAG2):c.1678+5A>G
|
rs1804692531
|
|
|
NM_016203.4(PRKAG2):c.1679-1G>A
|
rs1563120287
|
|
|
NM_016203.4(PRKAG2):c.1681G>A (p.Ala561Thr)
|
rs61744760
|
|
|
NM_016203.4(PRKAG2):c.1681G>C (p.Ala561Pro)
|
rs61744760
|
|
|
NM_016203.4(PRKAG2):c.1705G>A (p.Glu569Lys)
|
rs730880983
|
|
|
NM_016203.4(PRKAG2):c.1708T>G (p.Ter570Gly)
|
rs2150957786
|
|
|
NM_016203.4(PRKAG2):c.182G>T (p.Arg61Leu)
|
|
|
|
NM_016203.4(PRKAG2):c.186+3A>G
|
|
|
|
NM_016203.4(PRKAG2):c.186+4A>C
|
|
|
|
NM_016203.4(PRKAG2):c.187G>A (p.Val63Met)
|
rs1288414866
|
|
|
NM_016203.4(PRKAG2):c.196C>T (p.Pro66Ser)
|
rs764915841
|
|
|
NM_016203.4(PRKAG2):c.1A>G (p.Met1Val)
|
|
|
|
NM_016203.4(PRKAG2):c.211A>C (p.Ser71Arg)
|
rs2151803809
|
|
|
NM_016203.4(PRKAG2):c.224G>A (p.Gly75Glu)
|
rs199963585
|
|
|
NM_016203.4(PRKAG2):c.233_234insTCC (p.Ser78_Arg79insPro)
|
|
|
|
NM_016203.4(PRKAG2):c.235A>G (p.Arg79Gly)
|
|
|
|
NM_016203.4(PRKAG2):c.238G>A (p.Gly80Ser)
|
|
|
|
NM_016203.4(PRKAG2):c.245A>G (p.Gln82Arg)
|
rs368871685
|
|
|
NM_016203.4(PRKAG2):c.254C>A (p.Pro85His)
|
|
|
|
NM_016203.4(PRKAG2):c.254C>T (p.Pro85Leu)
|
|
|
|
NM_016203.4(PRKAG2):c.263C>T (p.Pro88Leu)
|
|
|
|
NM_016203.4(PRKAG2):c.269C>T (p.Ser90Phe)
|
rs2076657636
|
|
|
NM_016203.4(PRKAG2):c.26A>T (p.Lys9Met)
|
rs574029693
|
|
|
NM_016203.4(PRKAG2):c.314T>C (p.Val105Ala)
|
|
|
|
NM_016203.4(PRKAG2):c.326_328del (p.Ser109del)
|
rs2076654551
|
|
|
NM_016203.4(PRKAG2):c.32A>T (p.Lys11Ile)
|
rs1060503025
|
|
|
NM_016203.4(PRKAG2):c.331C>G (p.Gln111Glu)
|
|
|
|
NM_016203.4(PRKAG2):c.335A>G (p.Glu112Gly)
|
rs1563659108
|
|
|
NM_016203.4(PRKAG2):c.341C>G (p.Pro114Arg)
|
rs375174733
|
|
|
NM_016203.4(PRKAG2):c.352C>T (p.Pro118Ser)
|
rs1554596200
|
|
|
NM_016203.4(PRKAG2):c.358C>T (p.Arg120Cys)
|
rs763144065
|
|
|
NM_016203.4(PRKAG2):c.359G>C (p.Arg120Pro)
|
rs775756069
|
|
|
NM_016203.4(PRKAG2):c.386C>T (p.Ser129Phe)
|
rs2151803284
|
|
|
NM_016203.4(PRKAG2):c.388del (p.Ser130fs)
|
|
|
|
NM_016203.4(PRKAG2):c.392C>T (p.Ser131Phe)
|
|
|
|
NM_016203.4(PRKAG2):c.406C>T (p.Pro136Ser)
|
rs1386603764
|
|
|
NM_016203.4(PRKAG2):c.416A>G (p.Asn139Ser)
|
rs1042047141
|
|
|
NM_016203.4(PRKAG2):c.424A>G (p.Thr142Ala)
|
rs2076650288
|
|
|
NM_016203.4(PRKAG2):c.43T>C (p.Ser15Pro)
|
rs1563775284
|
|
|
NM_016203.4(PRKAG2):c.44C>T (p.Ser15Phe)
|
|
|
|
NM_016203.4(PRKAG2):c.458C>G (p.Ser153Cys)
|
rs1586486518
|
|
|
NM_016203.4(PRKAG2):c.466+18T>C
|
|
|
|
NM_016203.4(PRKAG2):c.466+1G>A
|
rs1563658309
|
|
|
NM_016203.4(PRKAG2):c.466+1G>C
|
|
|
|
NM_016203.4(PRKAG2):c.466+6A>G
|
rs2076648193
|
|
|
NM_016203.4(PRKAG2):c.467-2A>T
|
rs1554531076
|
|
|
NM_016203.4(PRKAG2):c.469_471dup (p.Ser157dup)
|
rs1832797348
|
|
|
NM_016203.4(PRKAG2):c.473G>A (p.Gly158Asp)
|
rs1832796232
|
|
|
NM_016203.4(PRKAG2):c.477CTC[2] (p.Ser162del)
|
rs1002236859
|
|
|
NM_016203.4(PRKAG2):c.485C>T (p.Ser162Phe)
|
rs779526669
|
|
|
NM_016203.4(PRKAG2):c.52G>T (p.Gly18Cys)
|
|
|
|
NM_016203.4(PRKAG2):c.532G>A (p.Glu178Lys)
|
rs397517273
|
|
|
NM_016203.4(PRKAG2):c.53del (p.Gly18fs)
|
|
|
|
NM_016203.4(PRKAG2):c.547G>C (p.Glu183Gln)
|
rs1131692281
|
|
|
NM_016203.4(PRKAG2):c.550C>G (p.Pro184Ala)
|
rs545533727
|
|
|
NM_016203.4(PRKAG2):c.557G>T (p.Arg186Leu)
|
rs145006140
|
|
|
NM_016203.4(PRKAG2):c.562G>A (p.Glu188Lys)
|
rs772303730
|
|
|
NM_016203.4(PRKAG2):c.562G>C (p.Glu188Gln)
|
rs772303730
|
|
|
NM_016203.4(PRKAG2):c.566A>G (p.Asn189Ser)
|
rs2151477098
|
|
|
NM_016203.4(PRKAG2):c.568C>A (p.Arg190Ser)
|
rs202200501
|
|
|
NM_016203.4(PRKAG2):c.568C>T (p.Arg190Cys)
|
|
|
|
NM_016203.4(PRKAG2):c.569G>T (p.Arg190Leu)
|
rs551795395
|
|
|
NM_016203.4(PRKAG2):c.583T>G (p.Ser195Ala)
|
rs2151477004
|
|
|
NM_016203.4(PRKAG2):c.590C>G (p.Pro197Arg)
|
rs368637364
|
|
|
NM_016203.4(PRKAG2):c.593del (p.Pro198fs)
|
|
|
|
NM_016203.4(PRKAG2):c.593dup (p.Asp199fs)
|
rs397517275
|
|
|
NM_016203.4(PRKAG2):c.602G>A (p.Gly201Glu)
|
rs1554530705
|
|
|
NM_016203.4(PRKAG2):c.619_636del (p.Ser207_Pro212del)
|
rs2151476689
|
|
|
NM_016203.4(PRKAG2):c.620C>G (p.Ser207Cys)
|
rs397517277
|
|
|
NM_016203.4(PRKAG2):c.622T>A (p.Ser208Thr)
|
rs1554530665
|
|
|
NM_016203.4(PRKAG2):c.638C>T (p.Thr213Ile)
|
|
|
|
NM_016203.4(PRKAG2):c.641G>A (p.Arg214Lys)
|
rs781267213
|
|
|
NM_016203.4(PRKAG2):c.661A>G (p.Thr221Ala)
|
rs1832761436
|
|
|
NM_016203.4(PRKAG2):c.665A>G (p.His222Arg)
|
rs1289045435
|
|
|
NM_016203.4(PRKAG2):c.665A>T (p.His222Leu)
|
|
|
|
NM_016203.4(PRKAG2):c.670G>A (p.Ala224Thr)
|
|
|
|
NM_016203.4(PRKAG2):c.682G>T (p.Ala228Ser)
|
rs2151476444
|
|
|
NM_016203.4(PRKAG2):c.684+1G>C
|
|
|
|
NM_016203.4(PRKAG2):c.685-3C>A
|
|
|
|
NM_016203.4(PRKAG2):c.685-6C>A
|
rs772481251
|
|
|
NM_016203.4(PRKAG2):c.686C>T (p.Ala229Val)
|
|
|
|
NM_016203.4(PRKAG2):c.689C>T (p.Ala230Val)
|
rs1554507908
|
|
|
NM_016203.4(PRKAG2):c.693GGC[4] (p.Ala234dup)
|
rs878855020
|
|
|
NM_016203.4(PRKAG2):c.695C>T (p.Ala232Val)
|
rs1338523761
|
|
|
NM_016203.4(PRKAG2):c.698C>A (p.Ala233Glu)
|
rs201240745
|
|
|
NM_016203.4(PRKAG2):c.698C>T (p.Ala233Val)
|
|
|
|
NM_016203.4(PRKAG2):c.706G>C (p.Gly236Arg)
|
rs1183522324
|
|
|
NM_016203.4(PRKAG2):c.709C>T (p.Pro237Ser)
|
|
|
|
NM_016203.4(PRKAG2):c.715G>A (p.Glu239Lys)
|
rs1271179381
|
|
|
NM_016203.4(PRKAG2):c.717A>C (p.Glu239Asp)
|
|
|
|
NM_016203.4(PRKAG2):c.719C>A (p.Ala240Asp)
|
|
|
|
NM_016203.4(PRKAG2):c.719C>T (p.Ala240Val)
|
rs1824657994
|
|
|
NM_016203.4(PRKAG2):c.721G>C (p.Gly241Arg)
|
rs765544988
|
|
|
NM_016203.4(PRKAG2):c.727C>G (p.Leu243Val)
|
rs543247293
|
|
|
NM_016203.4(PRKAG2):c.733A>C (p.Lys245Gln)
|
rs2151325092
|
|
|
NM_016203.4(PRKAG2):c.739G>A (p.Glu247Lys)
|
rs397517281
|
|
|
NM_016203.4(PRKAG2):c.740A>G (p.Glu247Gly)
|
rs1824644597
|
|
|
NM_016203.4(PRKAG2):c.745G>A (p.Glu249Lys)
|
|
|
|
NM_016203.4(PRKAG2):c.745G>C (p.Glu249Gln)
|
rs1585369730
|
|
|
NM_016203.4(PRKAG2):c.748G>A (p.Asp250Asn)
|
|
|
|
NM_016203.4(PRKAG2):c.758T>C (p.Val253Ala)
|
|
|
|
NM_016203.4(PRKAG2):c.778_781dup (p.Tyr261fs)
|
rs1585114507
|
|
|
NM_016203.4(PRKAG2):c.785T>C (p.Met262Thr)
|
|
|
|
NM_016203.4(PRKAG2):c.788G>A (p.Arg263Gln)
|
|
|
|
NM_016203.4(PRKAG2):c.813T>A (p.Tyr271Ter)
|
rs1814236823
|
|
|
NM_016203.4(PRKAG2):c.815A>C (p.Asp272Ala)
|
|
|
|
NM_016203.4(PRKAG2):c.83A>G (p.Gln28Arg)
|
rs1164114205
|
|
|
NM_016203.4(PRKAG2):c.865G>A (p.Val289Ile)
|
rs397517282
|
|
|
NM_016203.4(PRKAG2):c.865G>C (p.Val289Leu)
|
rs397517282
|
|
|
NM_016203.4(PRKAG2):c.870_876del (p.Lys290fs)
|
|
|
|
NM_016203.4(PRKAG2):c.893C>T (p.Ala298Val)
|
rs730880976
|
|
|
NM_016203.4(PRKAG2):c.896A>G (p.Asn299Ser)
|
|
|
|
NM_016203.4(PRKAG2):c.898G>A (p.Gly300Ser)
|
|
|
|
NM_016203.4(PRKAG2):c.8G>A (p.Ser3Asn)
|
|
|
|
NM_016203.4(PRKAG2):c.911C>G (p.Ala304Gly)
|
rs1808933429
|
|
|
NM_016203.4(PRKAG2):c.91C>G (p.Arg31Gly)
|
|
|
|
NM_016203.4(PRKAG2):c.928A>G (p.Lys310Glu)
|
|
|
|
NM_016203.4(PRKAG2):c.933dup (p.Gln312fs)
|
rs2151042865
|
|
|
NM_016203.4(PRKAG2):c.934C>T (p.Gln312Ter)
|
|
|
|
NM_016203.4(PRKAG2):c.947-19_947-18del
|
|
|
|
NM_016203.4(PRKAG2):c.947-22_947-6dup
|
rs1808529942
|
|
|
NM_016203.4(PRKAG2):c.947G>A (p.Gly316Glu)
|
|
|
|
NM_016203.4(PRKAG2):c.967T>G (p.Phe323Val)
|
rs397517283
|
|
|
NM_016203.4(PRKAG2):c.968T>G (p.Phe323Cys)
|
rs730880977
|
|
|
NM_016203.4(PRKAG2):c.970A>G (p.Ile324Val)
|
|
|
|
NM_016203.4(PRKAG2):c.978A>G (p.Ile326Met)
|
rs1060503023
|
|
|
NM_016203.4(PRKAG2):c.991T>C (p.Tyr331His)
|
|
|
|
NM_016599.5(MYOZ2):c.136G>T (p.Glu46Ter)
|
rs2149221447
|
|
|
NM_016599.5(MYOZ2):c.156C>A (p.Asn52Lys)
|
rs1578729969
|
|
|
NM_016599.5(MYOZ2):c.177G>C (p.Lys59Asn)
|
rs2149221471
|
|
|
NM_016599.5(MYOZ2):c.178A>T (p.Met60Leu)
|
rs2149221474
|
|
|
NM_016599.5(MYOZ2):c.17C>G (p.Thr6Ser)
|
rs397517289
|
|
|
NM_016599.5(MYOZ2):c.180G>A (p.Met60Ile)
|
rs2149221476
|
|
|
NM_016599.5(MYOZ2):c.181C>G (p.Arg61Gly)
|
rs755233280
|
|
|
NM_016599.5(MYOZ2):c.1A>T (p.Met1Leu)
|
rs368392953
|
|
|
NM_016599.5(MYOZ2):c.242T>C (p.Ile81Thr)
|
rs1741439343
|
|
|
NM_016599.5(MYOZ2):c.251G>C (p.Ser84Thr)
|
|
|
|
NM_016599.5(MYOZ2):c.255T>G (p.Ile85Met)
|
|
|
|
NM_016599.5(MYOZ2):c.259A>G (p.Met87Val)
|
rs1741621672
|
|
|
NM_016599.5(MYOZ2):c.268G>A (p.Gly90Arg)
|
rs1035375546
|
|
|
NM_016599.5(MYOZ2):c.27G>C (p.Lys9Asn)
|
|
|
|
NM_016599.5(MYOZ2):c.295G>A (p.Gly99Ser)
|
|
|
|
NM_016599.5(MYOZ2):c.29A>G (p.Gln10Arg)
|
rs76757102
|
|
|
NM_016599.5(MYOZ2):c.302C>A (p.Ser101Ter)
|
rs138061447
|
|
|
NM_016599.5(MYOZ2):c.302C>T (p.Ser101Leu)
|
|
|
|
NM_016599.5(MYOZ2):c.348C>G (p.Ser116Arg)
|
|
|
|
NM_016599.5(MYOZ2):c.358C>T (p.Pro120Ser)
|
rs1741625308
|
|
|
NM_016599.5(MYOZ2):c.361G>A (p.Asp121Asn)
|
|
|
|
NM_016599.5(MYOZ2):c.36A>C (p.Lys12Asn)
|
rs775592981
|
|
|
NM_016599.5(MYOZ2):c.373C>G (p.Pro125Ala)
|
|
|
|
NM_016599.5(MYOZ2):c.373C>T (p.Pro125Ser)
|
rs2149223427
|
|
|
NM_016599.5(MYOZ2):c.376+1G>T
|
rs1741625973
|
|
|
NM_016599.5(MYOZ2):c.376+6C>T
|
rs2149223432
|
|
|
NM_016599.5(MYOZ2):c.442T>C (p.Tyr148His)
|
|
|
|
NM_016599.5(MYOZ2):c.447A>T (p.Gln149His)
|
rs200077093
|
|
|
NM_016599.5(MYOZ2):c.456G>A (p.Trp152Ter)
|
|
|
|
NM_016599.5(MYOZ2):c.477T>A (p.Asp159Glu)
|
|
|
|
NM_016599.5(MYOZ2):c.47C>T (p.Thr16Ile)
|
rs1408647865
|
|
|
NM_016599.5(MYOZ2):c.499_501delinsAACTTTTCAAG (p.Tyr167fs)
|
rs1741776648
|
|
|
NM_016599.5(MYOZ2):c.508C>T (p.Leu170Phe)
|
rs1578738559
|
|
|
NM_016599.5(MYOZ2):c.538C>T (p.Pro180Ser)
|
|
|
|
NM_016599.5(MYOZ2):c.544T>C (p.Tyr182His)
|
|
|
|
NM_016599.5(MYOZ2):c.547A>G (p.Arg183Gly)
|
rs1741778219
|
|
|
NM_016599.5(MYOZ2):c.549G>C (p.Arg183Ser)
|
|
|
|
NM_016599.5(MYOZ2):c.55dup (p.Met19fs)
|
|
|
|
NM_016599.5(MYOZ2):c.562G>A (p.Val188Ile)
|
rs2149230757
|
|
|
NM_016599.5(MYOZ2):c.577G>A (p.Gly193Arg)
|
|
|
|
NM_016599.5(MYOZ2):c.581G>A (p.Gly194Asp)
|
rs1578374252
|
|
|
NM_016599.5(MYOZ2):c.654G>T (p.Arg218Ser)
|
rs1218433680
|
|
|
NM_016599.5(MYOZ2):c.682G>A (p.Gly228Ser)
|
|
|
|
NM_016599.5(MYOZ2):c.684C>T (p.Gly228=)
|
rs1257308572
|
|
|
NM_016599.5(MYOZ2):c.706C>A (p.Pro236Thr)
|
|
|
|
NM_016599.5(MYOZ2):c.706C>T (p.Pro236Ser)
|
|
|
|
NM_016599.5(MYOZ2):c.718A>G (p.Ile240Val)
|
rs1064796685
|
|
|
NM_016599.5(MYOZ2):c.724G>A (p.Glu242Lys)
|
rs1742288958
|
|
|
NM_016599.5(MYOZ2):c.760G>A (p.Asp254Asn)
|
rs1742290113
|
|
|
NM_016599.5(MYOZ2):c.786A>C (p.Glu262Asp)
|
rs863223714
|
|
|
NM_016599.5(MYOZ2):c.85G>A (p.Gly29Ser)
|
|
|
|
NM_020297.4(ABCC9):c.1011+6T>C
|
rs758833902
|
|
|
NM_020297.4(ABCC9):c.1012-10T>A
|
|
|
|
NM_020297.4(ABCC9):c.1012-1G>C
|
rs878854781
|
|
|
NM_020297.4(ABCC9):c.1012-9G>A
|
rs1592213548
|
|
|
NM_020297.4(ABCC9):c.1022C>T (p.Thr341Ile)
|
rs1565475592
|
|
|
NM_020297.4(ABCC9):c.1022_1032dup (p.Lys345fs)
|
rs2137876114
|
|
|
NM_020297.4(ABCC9):c.1057_1073dup (p.Phe359_Leu360insTerPhe)
|
rs2137875677
|
|
|
NM_020297.4(ABCC9):c.1069C>T (p.Leu357Phe)
|
|
|
|
NM_020297.4(ABCC9):c.1108_1123del (p.Leu369_Gln370insTer)
|
|
|
|
NM_020297.4(ABCC9):c.1127C>T (p.Thr376Ile)
|
rs372244832
|
|
|
NM_020297.4(ABCC9):c.1141A>G (p.Ile381Val)
|
|
|
|
NM_020297.4(ABCC9):c.1142T>A (p.Ile381Asn)
|
rs397517181
|
|
|
NM_020297.4(ABCC9):c.1142T>C (p.Ile381Thr)
|
|
|
|
NM_020297.4(ABCC9):c.1150C>G (p.Arg384Gly)
|
rs749318820
|
|
|
NM_020297.4(ABCC9):c.1150C>T (p.Arg384Cys)
|
|
|
|
NM_020297.4(ABCC9):c.1157C>T (p.Ala386Val)
|
rs1948289876
|
|
|
NM_020297.4(ABCC9):c.1164+1G>T
|
rs2137874802
|
|
|
NM_020297.4(ABCC9):c.1164+2dup
|
|
|
|
NM_020297.4(ABCC9):c.1164+5G>A
|
|
|
|
NM_020297.4(ABCC9):c.1164+6T>C
|
|
|
|
NM_020297.4(ABCC9):c.1165-2A>G
|
rs878854782
|
|
|
NM_020297.4(ABCC9):c.1165G>T (p.Ala389Ser)
|
|
|
|
NM_020297.4(ABCC9):c.1166C>T (p.Ala389Val)
|
|
|
|
NM_020297.4(ABCC9):c.1168A>G (p.Met390Val)
|
rs2137869595
|
|
|
NM_020297.4(ABCC9):c.1182A>C (p.Lys394Asn)
|
rs2137869444
|
|
|
NM_020297.4(ABCC9):c.1190G>C (p.Arg397Thr)
|
|
|
|
NM_020297.4(ABCC9):c.1199C>A (p.Thr400Lys)
|
|
|
|
NM_020297.4(ABCC9):c.1199C>T (p.Thr400Met)
|
|
|
|
NM_020297.4(ABCC9):c.1219del (p.Glu407fs)
|
|
|
|
NM_020297.4(ABCC9):c.1256T>C (p.Ile419Thr)
|
rs1186163590
|
|
|
NM_020297.4(ABCC9):c.1262C>T (p.Thr421Ile)
|
rs1156794360
|
|
|
NM_020297.4(ABCC9):c.1266T>A (p.Asn422Lys)
|
|
|
|
NM_020297.4(ABCC9):c.1274T>C (p.Met425Thr)
|
|
|
|
NM_020297.4(ABCC9):c.1306G>A (p.Ala436Thr)
|
|
|
|
NM_020297.4(ABCC9):c.1318C>G (p.Gln440Glu)
|
|
|
|
NM_020297.4(ABCC9):c.1319del (p.Gln440fs)
|
rs2137868283
|
|
|
NM_020297.4(ABCC9):c.1320+2T>G
|
|
|
|
NM_020297.4(ABCC9):c.1320+9A>G
|
rs2137868165
|
|
|
NM_020297.4(ABCC9):c.1321-2A>G
|
rs2137852356
|
|
|
NM_020297.4(ABCC9):c.1369T>G (p.Leu457Val)
|
rs1307619597
|
|
|
NM_020297.4(ABCC9):c.136T>C (p.Phe46Leu)
|
rs1555125391
|
|
|
NM_020297.4(ABCC9):c.1375G>A (p.Gly459Ser)
|
rs1060503051
|
|
|
NM_020297.4(ABCC9):c.142+4A>G
|
rs2138077568
|
|
|
NM_020297.4(ABCC9):c.144G>T (p.Gly48=)
|
rs1949382552
|
|
|
NM_020297.4(ABCC9):c.1455+1G>A
|
|
|
|
NM_020297.4(ABCC9):c.1455T>A (p.Leu485=)
|
rs1057523907
|
|
|
NM_020297.4(ABCC9):c.1463C>G (p.Ser488Cys)
|
|
|
|
NM_020297.4(ABCC9):c.1525G>A (p.Ala509Thr)
|
rs2137838038
|
|
|
NM_020297.4(ABCC9):c.1544G>C (p.Cys515Ser)
|
rs1948040621
|
|
|
NM_020297.4(ABCC9):c.1549A>T (p.Ser517Cys)
|
|
|
|
NM_020297.4(ABCC9):c.1555G>A (p.Glu519Lys)
|
|
|
|
NM_020297.4(ABCC9):c.1577T>C (p.Leu526Pro)
|
|
|
|
NM_020297.4(ABCC9):c.1577T>G (p.Leu526Arg)
|
rs1555112333
|
|
|
NM_020297.4(ABCC9):c.1580C>A (p.Ser527Tyr)
|
|
|
|
NM_020297.4(ABCC9):c.1600del (p.Leu534fs)
|
rs2137837524
|
|
|
NM_020297.4(ABCC9):c.1618+1G>A
|
|
|
|
NM_020297.4(ABCC9):c.1619-14_1619-11del
|
|
|
|
NM_020297.4(ABCC9):c.1619-2A>G
|
rs2137748028
|
|
|
NM_020297.4(ABCC9):c.1619-9_1619-6del
|
|
|
|
NM_020297.4(ABCC9):c.1643T>C (p.Ile548Thr)
|
|
|
|
NM_020297.4(ABCC9):c.1645G>A (p.Ala549Thr)
|
|
|
|
NM_020297.4(ABCC9):c.1649C>T (p.Ala550Val)
|
rs1476117427
|
|
|
NM_020297.4(ABCC9):c.1657G>T (p.Ala553Ser)
|
rs2137747839
|
|
|
NM_020297.4(ABCC9):c.1660A>C (p.Thr554Pro)
|
|
|
|
NM_020297.4(ABCC9):c.1669A>G (p.Thr557Ala)
|
rs1947295704
|
|
|
NM_020297.4(ABCC9):c.1686del (p.Ser562fs)
|
rs1415997308
|
|
|
NM_020297.4(ABCC9):c.1703C>G (p.Pro568Arg)
|
|
|
|
NM_020297.4(ABCC9):c.1736A>G (p.His579Arg)
|
rs1387068057
|
|
|
NM_020297.4(ABCC9):c.1769C>T (p.Thr590Met)
|
|
|
|
NM_020297.4(ABCC9):c.17del (p.Cys6fs)
|
|
|
|
NM_020297.4(ABCC9):c.1802+1G>T
|
|
|
|
NM_020297.4(ABCC9):c.1802+6C>T
|
rs1947291079
|
|
|
NM_020297.4(ABCC9):c.1803-1G>A
|
rs2137691925
|
|
|
NM_020297.4(ABCC9):c.1803T>C (p.Ser601=)
|
|
|
|
NM_020297.4(ABCC9):c.1817A>G (p.Asn606Ser)
|
|
|
|
NM_020297.4(ABCC9):c.1859G>T (p.Arg620Leu)
|
|
|
|
NM_020297.4(ABCC9):c.1861A>G (p.Thr621Ala)
|
rs1466183608
|
|
|
NM_020297.4(ABCC9):c.1864G>C (p.Gly622Arg)
|
|
|
|
NM_020297.4(ABCC9):c.1867G>T (p.Glu623Ter)
|
rs2137691313
|
|
|
NM_020297.4(ABCC9):c.1889C>T (p.Ser630Phe)
|
|
|
|
NM_020297.4(ABCC9):c.1892G>A (p.Cys631Tyr)
|
|
|
|
NM_020297.4(ABCC9):c.1899_1901dup (p.Lys633_His634insGln)
|
rs1565449096
|
|
|
NM_020297.4(ABCC9):c.1908A>G (p.Gly636=)
|
|
|
|
NM_020297.4(ABCC9):c.1911+1G>A
|
rs1946956410
|
|
|
NM_020297.4(ABCC9):c.1913A>T (p.Gln638Leu)
|
|
|
|
NM_020297.4(ABCC9):c.1921A>G (p.Thr641Ala)
|
|
|
|
NM_020297.4(ABCC9):c.1928A>G (p.Asn643Ser)
|
|
|
|
NM_020297.4(ABCC9):c.1928A>T (p.Asn643Ile)
|
|
|
|
NM_020297.4(ABCC9):c.1942G>C (p.Gly648Arg)
|
rs368279608
|
|
|
NM_020297.4(ABCC9):c.1943G>A (p.Gly648Glu)
|
|
|
|
NM_020297.4(ABCC9):c.1945A>G (p.Arg649Gly)
|
|
|
|
NM_020297.4(ABCC9):c.1946G>A (p.Arg649Lys)
|
rs2137655624
|
|
|
NM_020297.4(ABCC9):c.1955T>G (p.Leu652Arg)
|
|
|
|
NM_020297.4(ABCC9):c.1975A>G (p.Thr659Ala)
|
rs878854783
|
|
|
NM_020297.4(ABCC9):c.198T>G (p.Phe66Leu)
|
|
|
|
NM_020297.4(ABCC9):c.2000C>A (p.Thr667Lys)
|
rs397517186
|
|
|
NM_020297.4(ABCC9):c.2005G>A (p.Asp669Asn)
|
|
|
|
NM_020297.4(ABCC9):c.2005G>C (p.Asp669His)
|
|
|
|
NM_020297.4(ABCC9):c.2014A>G (p.Ile672Val)
|
|
|
|
NM_020297.4(ABCC9):c.201G>A (p.Pro67=)
|
rs769322587
|
|
|
NM_020297.4(ABCC9):c.2032T>C (p.Tyr678His)
|
|
|
|
NM_020297.4(ABCC9):c.2033A>G (p.Tyr678Cys)
|
rs1437551187
|
|
|
NM_020297.4(ABCC9):c.2033A>T (p.Tyr678Phe)
|
|
|
|
NM_020297.4(ABCC9):c.2038T>C (p.Ser680Pro)
|
|
|
|
NM_020297.4(ABCC9):c.2048G>A (p.Ser683Asn)
|
|
|
|
NM_020297.4(ABCC9):c.2056G>A (p.Ala686Thr)
|
rs1946306380
|
|
|
NM_020297.4(ABCC9):c.2059A>G (p.Thr687Ala)
|
rs2137602892
|
|
|
NM_020297.4(ABCC9):c.2060C>T (p.Thr687Ile)
|
|
|
|
NM_020297.4(ABCC9):c.2080C>T (p.Arg694Ter)
|
rs1194330942
|
|
|
NM_020297.4(ABCC9):c.2081G>C (p.Arg694Pro)
|
rs267603424
|
|
|
NM_020297.4(ABCC9):c.2090C>T (p.Thr697Ile)
|
rs764471784
|
|
|
NM_020297.4(ABCC9):c.2099T>G (p.Leu700Ter)
|
|
|
|
NM_020297.4(ABCC9):c.2107A>T (p.Ile703Phe)
|
|
|
|
NM_020297.4(ABCC9):c.2140C>A (p.Leu714Ile)
|
|
|
|
NM_020297.4(ABCC9):c.2161G>A (p.Glu721Lys)
|
|
|
|
NM_020297.4(ABCC9):c.2170A>T (p.Thr724Ser)
|
|
|
|
NM_020297.4(ABCC9):c.2182A>G (p.Lys728Glu)
|
rs968044395
|
|
|
NM_020297.4(ABCC9):c.2186T>A (p.Val729Asp)
|
|
|
|
NM_020297.4(ABCC9):c.2191T>G (p.Trp731Gly)
|
|
|
|
NM_020297.4(ABCC9):c.2198+1G>A
|
rs1396851699
|
|
|
NM_020297.4(ABCC9):c.2198+1G>T
|
rs1396851699
|
|
|
NM_020297.4(ABCC9):c.2198+3A>G
|
rs1555194960
|
|
|
NM_020297.4(ABCC9):c.2199-18T>G
|
|
|
|
NM_020297.4(ABCC9):c.2199-1G>A
|
rs2137529749
|
|
|
NM_020297.4(ABCC9):c.2199T>C (p.Asn733=)
|
|
|
|
NM_020297.4(ABCC9):c.219G>T (p.Trp73Cys)
|
rs1949379806
|
|
|
NM_020297.4(ABCC9):c.2210C>T (p.Ser737Phe)
|
|
|
|
NM_020297.4(ABCC9):c.2216C>T (p.Pro739Leu)
|
|
|
|
NM_020297.4(ABCC9):c.2224G>C (p.Glu742Gln)
|
|
|
|
NM_020297.4(ABCC9):c.2230A>G (p.Thr744Ala)
|
|
|
|
NM_020297.4(ABCC9):c.2231C>A (p.Thr744Asn)
|
|
|
|
NM_020297.4(ABCC9):c.2237+1G>C
|
rs1178925696
|
|
|
NM_020297.4(ABCC9):c.2237+3A>G
|
|
|
|
NM_020297.4(ABCC9):c.2238T>G (p.Ser746Arg)
|
|
|
|
NM_020297.4(ABCC9):c.2240G>A (p.Arg747Lys)
|
rs1945599019
|
|
|
NM_020297.4(ABCC9):c.2245A>T (p.Arg749Trp)
|
rs755331988
|
|
|
NM_020297.4(ABCC9):c.2255T>C (p.Val752Ala)
|
|
|
|
NM_020297.4(ABCC9):c.2290G>T (p.Ala764Ser)
|
rs750474414
|
|
|
NM_020297.4(ABCC9):c.2309T>C (p.Ile770Thr)
|
rs1945595914
|
|
|
NM_020297.4(ABCC9):c.2309T>G (p.Ile770Ser)
|
rs1945595914
|
|
|
NM_020297.4(ABCC9):c.2315T>C (p.Phe772Ser)
|
|
|
|
NM_020297.4(ABCC9):c.232G>A (p.Ala78Thr)
|
|
|
|
NM_020297.4(ABCC9):c.2331C>G (p.Asn777Lys)
|
|
|
|
NM_020297.4(ABCC9):c.2339+8_2339+9insACAGAGGTAATTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC
|
|
|
|
NM_020297.4(ABCC9):c.233C>T (p.Ala78Val)
|
rs1253372454
|
|
|
NM_020297.4(ABCC9):c.2340-7C>A
|
rs1167935996
|
|
|
NM_020297.4(ABCC9):c.2371C>T (p.Gln791Ter)
|
rs1945477588
|
|
|
NM_020297.4(ABCC9):c.2375C>T (p.Pro792Leu)
|
|
|
|
NM_020297.4(ABCC9):c.2392C>A (p.Pro798Thr)
|
rs760116129
|
|
|
NM_020297.4(ABCC9):c.2392C>T (p.Pro798Ser)
|
|
|
|
NM_020297.4(ABCC9):c.2399G>C (p.Gly800Ala)
|
|
|
|
NM_020297.4(ABCC9):c.23A>G (p.Asn8Ser)
|
rs1591761089
|
|
|
NM_020297.4(ABCC9):c.2408C>T (p.Thr803Ile)
|
rs997660720
|
|
|
NM_020297.4(ABCC9):c.2416G>A (p.Gly806Arg)
|
rs1339117803
|
|
|
NM_020297.4(ABCC9):c.2422_2423del (p.Arg808fs)
|
rs1945475029
|
|
|
NM_020297.4(ABCC9):c.2432A>G (p.Asn811Ser)
|
|
|
|
NM_020297.4(ABCC9):c.2440G>T (p.Gly814Trp)
|
rs2137495684
|
|
|
NM_020297.4(ABCC9):c.2456G>T (p.Arg819Ile)
|
|
|
|
NM_020297.4(ABCC9):c.2470C>T (p.Arg824Ter)
|
rs779866340
|
|
|
NM_020297.4(ABCC9):c.2471G>A (p.Arg824Gln)
|
rs755951253
|
|
|
NM_020297.4(ABCC9):c.2474C>T (p.Ala825Val)
|
rs964127282
|
|
|
NM_020297.4(ABCC9):c.248A>G (p.His83Arg)
|
|
|
|
NM_020297.4(ABCC9):c.2495T>C (p.Ile832Thr)
|
rs542818695
|
|
|
NM_020297.4(ABCC9):c.2505+4A>C
|
|
|
|
NM_020297.4(ABCC9):c.2505G>A (p.Leu835=)
|
rs1945400976
|
|
|
NM_020297.4(ABCC9):c.2506-1G>A
|
|
|
|
NM_020297.4(ABCC9):c.2512C>T (p.Pro838Ser)
|
|
|
|
NM_020297.4(ABCC9):c.2522C>T (p.Ala841Val)
|
rs1555189354
|
|
|
NM_020297.4(ABCC9):c.2529_2530del (p.Ile844fs)
|
rs2137444128
|
|
|
NM_020297.4(ABCC9):c.2530A>G (p.Ile844Val)
|
|
|
|
NM_020297.4(ABCC9):c.2553G>A (p.Met851Ile)
|
|
|
|
NM_020297.4(ABCC9):c.2557G>A (p.Glu853Lys)
|
rs1207537871
|
|
|
NM_020297.4(ABCC9):c.2572T>C (p.Phe858Leu)
|
rs1945017315
|
|
|
NM_020297.4(ABCC9):c.2589_2590del (p.Arg864fs)
|
|
|
|
NM_020297.4(ABCC9):c.2591G>A (p.Arg864Lys)
|
rs1592071215
|
|
|
NM_020297.4(ABCC9):c.259dup (p.Ile87fs)
|
|
|
|
NM_020297.4(ABCC9):c.25A>C (p.Asn9His)
|
|
|
|
NM_020297.4(ABCC9):c.2606T>A (p.Val869Glu)
|
rs2137443414
|
|
|
NM_020297.4(ABCC9):c.2608A>T (p.Thr870Ser)
|
rs1057521460
|
|
|
NM_020297.4(ABCC9):c.2609C>T (p.Thr870Ile)
|
rs1945015087
|
|
|
NM_020297.4(ABCC9):c.2615A>G (p.Lys872Arg)
|
rs1213800071
|
|
|
NM_020297.4(ABCC9):c.2625T>A (p.Tyr875Ter)
|
|
|
|
NM_020297.4(ABCC9):c.2642G>T (p.Trp881Leu)
|
|
|
|
NM_020297.4(ABCC9):c.2643+5G>A
|
|
|
|
NM_020297.4(ABCC9):c.2643+6A>G
|
rs1565740203
|
|
|
NM_020297.4(ABCC9):c.2653A>G (p.Met885Val)
|
|
|
|
NM_020297.4(ABCC9):c.2659G>C (p.Asp887His)
|
|
|
|
NM_020297.4(ABCC9):c.2666G>A (p.Ser889Asn)
|
|
|
|
NM_020297.4(ABCC9):c.268_269delinsTT (p.Gly90Phe)
|
rs2138060575
|
|
|
NM_020297.4(ABCC9):c.2711T>C (p.Val904Ala)
|
|
|
|
NM_020297.4(ABCC9):c.2715G>C (p.Glu905Asp)
|
|
|
|
NM_020297.4(ABCC9):c.2721T>G (p.Tyr907Ter)
|
rs1422935645
|
|
|
NM_020297.4(ABCC9):c.2726A>G (p.His909Arg)
|
rs2137441094
|
|
|
NM_020297.4(ABCC9):c.2757A>C (p.Gln919His)
|
|
|
|
NM_020297.4(ABCC9):c.2768del (p.Lys923fs)
|
rs775677708
|
|
|
NM_020297.4(ABCC9):c.2769+3A>G
|
rs2137440645
|
|
|
NM_020297.4(ABCC9):c.2769+3_2769+6del
|
rs1944998967
|
|
|
NM_020297.4(ABCC9):c.2769+4A>G
|
|
|
|
NM_020297.4(ABCC9):c.2770-10T>G
|
|
|
|
NM_020297.4(ABCC9):c.2770-15C>G
|
|
|
|
NM_020297.4(ABCC9):c.2770G>A (p.Asp924Asn)
|
|
|
|
NM_020297.4(ABCC9):c.2775G>C (p.Met925Ile)
|
|
|
|
NM_020297.4(ABCC9):c.2791A>G (p.Thr931Ala)
|
|
|
|
NM_020297.4(ABCC9):c.2792C>T (p.Thr931Ile)
|
rs763933429
|
|
|
NM_020297.4(ABCC9):c.2795T>G (p.Leu932Ter)
|
rs1469919677
|
|
|
NM_020297.4(ABCC9):c.2816G>A (p.Arg939Gln)
|
|
|
|
NM_020297.4(ABCC9):c.2818G>T (p.Ala940Ser)
|
rs1373377020
|
|
|
NM_020297.4(ABCC9):c.2826T>G (p.Tyr942Ter)
|
rs141025897
|
|
|
NM_020297.4(ABCC9):c.2828C>G (p.Ser943Ter)
|
|
|
|
NM_020297.4(ABCC9):c.284+5G>A
|
|
|
|
NM_020297.4(ABCC9):c.284C>T (p.Ser95Leu)
|
|
|
|
NM_020297.4(ABCC9):c.2851G>A (p.Glu951Lys)
|
|
|
|
NM_020297.4(ABCC9):c.2854G>A (p.Asp952Asn)
|
|
|
|
NM_020297.4(ABCC9):c.2863G>A (p.Glu955Lys)
|
rs1452956891
|
|
|
NM_020297.4(ABCC9):c.286C>T (p.Arg96Trp)
|
|
|
|
NM_020297.4(ABCC9):c.2872G>A (p.Glu958Lys)
|
|
|
|
NM_020297.4(ABCC9):c.2886T>G (p.Asp962Glu)
|
|
|
|
NM_020297.4(ABCC9):c.2889_2891del (p.Glu963del)
|
rs1555187363
|
|
|
NM_020297.4(ABCC9):c.2891A>T (p.Asp964Val)
|
|
|
|
NM_020297.4(ABCC9):c.289C>G (p.Arg97Gly)
|
|
|
|
NM_020297.4(ABCC9):c.2900T>C (p.Met967Thr)
|
|
|
|
NM_020297.4(ABCC9):c.290G>A (p.Arg97Gln)
|
|
|
|
NM_020297.4(ABCC9):c.2913G>C (p.Met971Ile)
|
|
|
|
NM_020297.4(ABCC9):c.2915G>C (p.Arg972Thr)
|
|
|
|
NM_020297.4(ABCC9):c.2928_2929dup (p.Met977fs)
|
rs1565731854
|
|
|
NM_020297.4(ABCC9):c.2935T>C (p.Trp979Arg)
|
rs763968252
|
|
|
NM_020297.4(ABCC9):c.293A>G (p.Glu98Gly)
|
rs1592251379
|
|
|
NM_020297.4(ABCC9):c.2948G>C (p.Trp983Ser)
|
rs1944628696
|
|
|
NM_020297.4(ABCC9):c.2950C>G (p.Arg984Gly)
|
|
|
|
NM_020297.4(ABCC9):c.295T>A (p.Ser99Thr)
|
rs1270249014
|
|
|
NM_020297.4(ABCC9):c.2965G>A (p.Gly989Arg)
|
rs1592054339
|
|
|
NM_020297.4(ABCC9):c.2977_2978delinsAA (p.Leu993Lys)
|
rs1944626862
|
|
|
NM_020297.4(ABCC9):c.2990T>C (p.Met997Thr)
|
|
|
|
NM_020297.4(ABCC9):c.3004C>T (p.Leu1002Phe)
|
|
|
|
NM_020297.4(ABCC9):c.3005T>A (p.Leu1002His)
|
rs1944625184
|
|
|
NM_020297.4(ABCC9):c.3023T>C (p.Ile1008Thr)
|
|
|
|
NM_020297.4(ABCC9):c.307C>T (p.His103Tyr)
|
rs2138000225
|
|
|
NM_020297.4(ABCC9):c.3085A>G (p.Lys1029Glu)
|
|
|
|
NM_020297.4(ABCC9):c.3091G>T (p.Asp1031Tyr)
|
|
|
|
NM_020297.4(ABCC9):c.3095A>G (p.Gln1032Arg)
|
rs757471451
|
|
|
NM_020297.4(ABCC9):c.3096+4del
|
rs755744406
|
|
|
NM_020297.4(ABCC9):c.3096+6A>G
|
|
|
|
NM_020297.4(ABCC9):c.3131G>A (p.Gly1044Glu)
|
rs1944562961
|
|
|
NM_020297.4(ABCC9):c.3157A>C (p.Thr1053Pro)
|
|
|
|
NM_020297.4(ABCC9):c.3169G>A (p.Val1057Ile)
|
|
|
|
NM_020297.4(ABCC9):c.3175T>C (p.Trp1059Arg)
|
|
|
|
NM_020297.4(ABCC9):c.3244A>G (p.Arg1082Gly)
|
rs1944556283
|
|
|
NM_020297.4(ABCC9):c.3246-7T>G
|
|
|
|
NM_020297.4(ABCC9):c.3246G>T (p.Arg1082Ser)
|
|
|
|
NM_020297.4(ABCC9):c.3257C>A (p.Thr1086Asn)
|
|
|
|
NM_020297.4(ABCC9):c.3262C>T (p.Pro1088Ser)
|
rs1944536410
|
|
|
NM_020297.4(ABCC9):c.3265C>G (p.Leu1089Val)
|
rs1944535818
|
|
|
NM_020297.4(ABCC9):c.3266T>A (p.Leu1089Gln)
|
rs1944535610
|
|
|
NM_020297.4(ABCC9):c.3269del (p.Gly1090fs)
|
rs1403772538
|
|
|
NM_020297.4(ABCC9):c.3275T>A (p.Ile1092Asn)
|
rs182158174
|
|
|
NM_020297.4(ABCC9):c.3275T>C (p.Ile1092Thr)
|
rs182158174
|
|
|
NM_020297.4(ABCC9):c.3277C>G (p.Leu1093Val)
|
rs1944534021
|
|
|
NM_020297.4(ABCC9):c.3293_3294delinsAA (p.Ala1098Glu)
|
rs2137385180
|
|
|
NM_020297.4(ABCC9):c.3316-1G>A
|
rs1944442483
|
|
|
NM_020297.4(ABCC9):c.3316-7C>A
|
rs369220858
|
|
|
NM_020297.4(ABCC9):c.3344C>G (p.Thr1115Ser)
|
|
|
|
NM_020297.4(ABCC9):c.3347G>C (p.Arg1116Pro)
|
|
|
|
NM_020297.4(ABCC9):c.3364C>G (p.Leu1122Val)
|
|
|
|
NM_020297.4(ABCC9):c.3388_3389insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGAAAACTGGCTAGCCATATGTAGAAAGCTGAAACTGGATCCCTTCCTTACACCTTATACAAAAATCAAATCAATTCAAGATGGGATGATTTCTT (p.Tyr1130delinsPhePhePhePhePhePhePheXaaXaaXaaXaaLysLeuAlaSerHisMetTer)
|
|
|
|
NM_020297.4(ABCC9):c.3399T>A (p.Pro1133=)
|
rs1419018953
|
|
|
NM_020297.4(ABCC9):c.3400G>A (p.Val1134Met)
|
rs1944437109
|
|
|
NM_020297.4(ABCC9):c.3413C>T (p.Ala1138Val)
|
|
|
|
NM_020297.4(ABCC9):c.3415C>G (p.Leu1139Val)
|
|
|
|
NM_020297.4(ABCC9):c.3430G>A (p.Val1144Ile)
|
|
|
|
NM_020297.4(ABCC9):c.3434C>T (p.Ala1145Val)
|
|
|
|
NM_020297.4(ABCC9):c.3440A>G (p.Tyr1147Cys)
|
rs1060503052
|
|
|
NM_020297.4(ABCC9):c.3459_3460delinsAA (p.Phe1153Leu)
|
rs2137370806
|
|
|
NM_020297.4(ABCC9):c.3461G>C (p.Arg1154Pro)
|
rs387907209
|
|
|
NM_020297.4(ABCC9):c.3464T>G (p.Val1155Gly)
|
rs1308858284
|
|
|
NM_020297.4(ABCC9):c.3473+4A>C
|
|
|
|
NM_020297.4(ABCC9):c.3473+6T>A
|
|
|
|
NM_020297.4(ABCC9):c.347C>A (p.Thr116Lys)
|
rs1949029798
|
|
|
NM_020297.4(ABCC9):c.3494A>G (p.Asp1165Gly)
|
|
|
|
NM_020297.4(ABCC9):c.3500C>G (p.Thr1167Ser)
|
rs1944197570
|
|
|
NM_020297.4(ABCC9):c.3502C>T (p.Gln1168Ter)
|
rs2137338402
|
|
|
NM_020297.4(ABCC9):c.3504G>C (p.Gln1168His)
|
rs1944197447
|
|
|
NM_020297.4(ABCC9):c.3539_3541del (p.Glu1180del)
|
|
|
|
NM_020297.4(ABCC9):c.353C>T (p.Ser118Leu)
|
|
|
|
NM_020297.4(ABCC9):c.3542G>A (p.Gly1181Glu)
|
|
|
|
NM_020297.4(ABCC9):c.3557G>C (p.Arg1186Pro)
|
|
|
|
NM_020297.4(ABCC9):c.3559G>T (p.Ala1187Ser)
|
rs1407639079
|
|
|
NM_020297.4(ABCC9):c.355A>G (p.Ile119Val)
|
rs745873108
|
|
|
NM_020297.4(ABCC9):c.3565A>G (p.Arg1189Gly)
|
|
|
|
NM_020297.4(ABCC9):c.3566G>A (p.Arg1189Lys)
|
|
|
|
NM_020297.4(ABCC9):c.3567-3C>G
|
rs1394825827
|
|
|
NM_020297.4(ABCC9):c.3567G>A (p.Arg1189=)
|
|
|
|
NM_020297.4(ABCC9):c.3571G>A (p.Glu1191Lys)
|
rs2137272930
|
|
|
NM_020297.4(ABCC9):c.3586C>T (p.Gln1196Ter)
|
|
|
|
NM_020297.4(ABCC9):c.3590G>T (p.Arg1197Leu)
|
|
|
|
NM_020297.4(ABCC9):c.3602T>A (p.Leu1201Gln)
|
rs766633076
|
|
|
NM_020297.4(ABCC9):c.3622G>A (p.Ala1208Thr)
|
|
|
|
NM_020297.4(ABCC9):c.3648C>G (p.Asn1216Lys)
|
|
|
|
NM_020297.4(ABCC9):c.364T>G (p.Tyr122Asp)
|
rs2137999579
|
|
|
NM_020297.4(ABCC9):c.3659A>T (p.Glu1220Val)
|
rs1943554526
|
|
|
NM_020297.4(ABCC9):c.3668C>A (p.Thr1223Lys)
|
rs137907278
|
|
|
NM_020297.4(ABCC9):c.3669+4C>G
|
rs189565793
|
|
|
NM_020297.4(ABCC9):c.3669+4C>T
|
rs189565793
|
|
|
NM_020297.4(ABCC9):c.3669+5G>A
|
|
|
|
NM_020297.4(ABCC9):c.3669+5G>C
|
rs754952366
|
|
|
NM_020297.4(ABCC9):c.3673dup (p.Tyr1225fs)
|
rs769609857
|
|
|
NM_020297.4(ABCC9):c.3674A>G (p.Tyr1225Cys)
|
rs200876028
|
|
|
NM_020297.4(ABCC9):c.3698C>T (p.Thr1233Ile)
|
rs1555179638
|
|
|
NM_020297.4(ABCC9):c.3705dup (p.Ile1236fs)
|
|
|
|
NM_020297.4(ABCC9):c.3741G>C (p.Leu1247Phe)
|
|
|
|
NM_020297.4(ABCC9):c.3757C>G (p.Leu1253Val)
|
rs2137194656
|
|
|
NM_020297.4(ABCC9):c.3770C>T (p.Thr1257Met)
|
|
|
|
NM_020297.4(ABCC9):c.3771+4G>A
|
|
|
|
NM_020297.4(ABCC9):c.3771G>A (p.Thr1257=)
|
|
|
|
NM_020297.4(ABCC9):c.3772-10C>G
|
|
|
|
NM_020297.4(ABCC9):c.3772-3C>T
|
|
|
|
NM_020297.4(ABCC9):c.3772-4A>C
|
rs1555179333
|
|
|
NM_020297.4(ABCC9):c.3772-4A>T
|
|
|
|
NM_020297.4(ABCC9):c.3772-8T>G
|
rs1942709972
|
|
|
NM_020297.4(ABCC9):c.3772-8_3772-5dup
|
|
|
|
NM_020297.4(ABCC9):c.3772A>C (p.Ile1258Leu)
|
rs1287858213
|
|
|
NM_020297.4(ABCC9):c.3773T>A (p.Ile1258Lys)
|
|
|
|
NM_020297.4(ABCC9):c.377A>G (p.Glu126Gly)
|
rs1060503054
|
|
|
NM_020297.4(ABCC9):c.3814C>G (p.Leu1272Val)
|
rs1057523124
|
|
|
NM_020297.4(ABCC9):c.3820G>A (p.Val1274Ile)
|
|
|
|
NM_020297.4(ABCC9):c.3820G>T (p.Val1274Phe)
|
|
|
|
NM_020297.4(ABCC9):c.382T>C (p.Ser128Pro)
|
|
|
|
NM_020297.4(ABCC9):c.3836T>G (p.Val1279Gly)
|
rs1942706614
|
|
|
NM_020297.4(ABCC9):c.3845T>C (p.Val1282Ala)
|
rs2137187429
|
|
|
NM_020297.4(ABCC9):c.3860C>T (p.Thr1287Ile)
|
|
|
|
NM_020297.4(ABCC9):c.3883G>A (p.Gly1295Ser)
|
rs2137187157
|
|
|
NM_020297.4(ABCC9):c.3892+6G>A
|
rs1460644839
|
|
|
NM_020297.4(ABCC9):c.3895C>G (p.Pro1299Ala)
|
|
|
|
NM_020297.4(ABCC9):c.3895C>T (p.Pro1299Ser)
|
|
|
|
NM_020297.4(ABCC9):c.38ATA[1] (p.Asn14del)
|
rs1949498673
|
|
|
NM_020297.4(ABCC9):c.3923A>G (p.Gln1308Arg)
|
rs143091422
|
|
|
NM_020297.4(ABCC9):c.3933G>T (p.Glu1311Asp)
|
rs371193643
|
|
|
NM_020297.4(ABCC9):c.3946G>A (p.Asp1316Asn)
|
|
|
|
NM_020297.4(ABCC9):c.3982G>A (p.Val1328Ile)
|
rs1060503053
|
|
|
NM_020297.4(ABCC9):c.3993C>A (p.His1331Gln)
|
|
|
|
NM_020297.4(ABCC9):c.3998A>G (p.Lys1333Arg)
|
rs2137173907
|
|
|
NM_020297.4(ABCC9):c.3G>A (p.Met1Ile)
|
|
|
|
NM_020297.4(ABCC9):c.4024-3T>C
|
|
|
|
NM_020297.4(ABCC9):c.4037G>T (p.Gly1346Val)
|
|
|
|
NM_020297.4(ABCC9):c.4050T>G (p.Ser1350Arg)
|
rs1942487151
|
|
|
NM_020297.4(ABCC9):c.406+3A>C
|
|
|
|
NM_020297.4(ABCC9):c.406+4A>G
|
|
|
|
NM_020297.4(ABCC9):c.4100A>G (p.Asp1367Gly)
|
rs1005447267
|
|
|
NM_020297.4(ABCC9):c.4101T>A (p.Asp1367Glu)
|
|
|
|
NM_020297.4(ABCC9):c.4103-3C>T
|
rs930399137
|
|
|
NM_020297.4(ABCC9):c.4129A>G (p.Ile1377Val)
|
rs1565687632
|
|
|
NM_020297.4(ABCC9):c.4147C>T (p.His1383Tyr)
|
|
|
|
NM_020297.4(ABCC9):c.4156C>T (p.Arg1386Cys)
|
rs751670196
|
|
|
NM_020297.4(ABCC9):c.4157G>A (p.Arg1386His)
|
rs730880035
|
|
|
NM_020297.4(ABCC9):c.4162A>G (p.Arg1388Gly)
|
rs1942282778
|
|
|
NM_020297.4(ABCC9):c.4166T>C (p.Leu1389Pro)
|
rs2137148663
|
|
|
NM_020297.4(ABCC9):c.4196dup (p.Ser1400fs)
|
rs730880370
|
|
|
NM_020297.4(ABCC9):c.419A>T (p.Tyr140Phe)
|
|
|
|
NM_020297.4(ABCC9):c.4202del (p.Gly1401fs)
|
rs1591950473
|
|
|
NM_020297.4(ABCC9):c.4211+2T>C
|
rs2137148346
|
|
|
NM_020297.4(ABCC9):c.4211+4G>A
|
|
|
|
NM_020297.4(ABCC9):c.4223A>G (p.Asp1408Gly)
|
|
|
|
NM_020297.4(ABCC9):c.422G>C (p.Trp141Ser)
|
|
|
|
NM_020297.4(ABCC9):c.4237T>G (p.Cys1413Gly)
|
rs1298675223
|
|
|
NM_020297.4(ABCC9):c.4262_4267del (p.Ala1421_Leu1422del)
|
|
|
|
NM_020297.4(ABCC9):c.4269A>T (p.Glu1423Asp)
|
rs1031284050
|
|
|
NM_020297.4(ABCC9):c.4280T>C (p.Leu1427Pro)
|
rs2137133776
|
|
|
NM_020297.4(ABCC9):c.4285A>T (p.Asn1429Tyr)
|
rs1178982626
|
|
|
NM_020297.4(ABCC9):c.4313T>C (p.Leu1438Pro)
|
rs1942111125
|
|
|
NM_020297.4(ABCC9):c.4317T>G (p.Asp1439Glu)
|
|
|
|
NM_020297.4(ABCC9):c.4328C>G (p.Thr1443Ser)
|
rs2137118450
|
|
|
NM_020297.4(ABCC9):c.4376T>G (p.Leu1459Arg)
|
|
|
|
NM_020297.4(ABCC9):c.4389del (p.Phe1463fs)
|
|
|
|
NM_020297.4(ABCC9):c.438T>G (p.Ile146Met)
|
rs1948627344
|
|
|
NM_020297.4(ABCC9):c.438del (p.Thr147fs)
|
rs1948627474
|
|
|
NM_020297.4(ABCC9):c.4391T>G (p.Val1464Gly)
|
|
|
|
NM_020297.4(ABCC9):c.4394G>A (p.Arg1465His)
|
rs867034453
|
|
|
NM_020297.4(ABCC9):c.4405A>T (p.Ile1469Phe)
|
|
|
|
NM_020297.4(ABCC9):c.4408C>T (p.Leu1470Phe)
|
|
|
|
NM_020297.4(ABCC9):c.4411A>T (p.Ile1471Phe)
|
rs2137117938
|
|
|
NM_020297.4(ABCC9):c.4450-1G>A
|
rs1941815245
|
|
|
NM_020297.4(ABCC9):c.4454A>G (p.Asn1485Ser)
|
|
|
|
NM_020297.4(ABCC9):c.4492C>T (p.Arg1498Trp)
|
rs1020626669
|
|
|
NM_020297.4(ABCC9):c.4493G>A (p.Arg1498Gln)
|
rs2137110050
|
|
|
NM_020297.4(ABCC9):c.4512+684C>T
|
|
|
|
NM_020297.4(ABCC9):c.4512+688A>G
|
rs1941760692
|
|
|
NM_020297.4(ABCC9):c.4512+691_4512+701del
|
rs1272651352
|
|
|
NM_020297.4(ABCC9):c.4512+693G>C
|
rs876657737
|
|
|
NM_020297.4(ABCC9):c.4512+693_4512+694del
|
|
|
|
NM_020297.4(ABCC9):c.4512+708G>A
|
|
|
|
NM_020297.4(ABCC9):c.4512+713del
|
|
|
|
NM_020297.4(ABCC9):c.4512+718T>C
|
|
|
|
NM_020297.4(ABCC9):c.4512+720G>A
|
|
|
|
NM_020297.4(ABCC9):c.4512+726G>A
|
rs1340272542
|
|
|
NM_020297.4(ABCC9):c.4512+732T>A
|
|
|
|
NM_020297.4(ABCC9):c.4512+733C>A
|
|
|
|
NM_020297.4(ABCC9):c.4512+733C>G
|
rs1416247885
|
|
|
NM_020297.4(ABCC9):c.4512+737G>T
|
rs2137105025
|
|
|
NM_020297.4(ABCC9):c.4512+738G>A
|
|
|
|
NM_020297.4(ABCC9):c.4512+738G>T
|
|
|
|
NM_020297.4(ABCC9):c.4512+747G>A
|
rs1565679584
|
|
|
NM_020297.4(ABCC9):c.4512+748T>A
|
rs1941753268
|
|
|
NM_020297.4(ABCC9):c.4512+748T>G
|
|
|
|
NM_020297.4(ABCC9):c.4512+769A>G
|
|
|
|
NM_020297.4(ABCC9):c.4512+777_4512+778delinsAA
|
|
|
|
NM_020297.4(ABCC9):c.4512+780C>T
|
rs1941749576
|
|
|
NM_020297.4(ABCC9):c.4512+801A>G
|
|
|
|
NM_020297.4(ABCC9):c.4512+802C>T
|
rs2137104244
|
|
|
NM_020297.4(ABCC9):c.4512+814C>T
|
rs387906805
|
|
|
NM_020297.4(ABCC9):c.4512+818C>G
|
|
|
|
NM_020297.4(ABCC9):c.4512+824G>C
|
rs1941745235
|
|
|
NM_020297.4(ABCC9):c.4512T>C (p.Ala1504=)
|
|
|
|
NM_020297.4(ABCC9):c.457G>A (p.Val153Ile)
|
rs771527727
|
|
|
NM_020297.4(ABCC9):c.467G>A (p.Cys156Tyr)
|
rs754918275
|
|
|
NM_020297.4(ABCC9):c.483C>G (p.Asp161Glu)
|
rs777836104
|
|
|
NM_020297.4(ABCC9):c.48C>A (p.Asn16Lys)
|
rs199631710
|
|
|
NM_020297.4(ABCC9):c.496C>T (p.Arg166Cys)
|
|
|
|
NM_020297.4(ABCC9):c.4A>G (p.Ser2Gly)
|
rs1485712335
|
|
|
NM_020297.4(ABCC9):c.512G>C (p.Gly171Ala)
|
|
|
|
NM_020297.4(ABCC9):c.523A>C (p.Ile175Leu)
|
|
|
|
NM_020297.4(ABCC9):c.531T>A (p.Asn177Lys)
|
|
|
|
NM_020297.4(ABCC9):c.535C>A (p.Leu179Ile)
|
rs1390484360
|
|
|
NM_020297.4(ABCC9):c.55G>A (p.Val19Ile)
|
rs2138078291
|
|
|
NM_020297.4(ABCC9):c.566G>A (p.Arg189Gln)
|
|
|
|
NM_020297.4(ABCC9):c.573G>A (p.Arg191=)
|
|
|
|
NM_020297.4(ABCC9):c.578A>G (p.Tyr193Cys)
|
rs1948583615
|
|
|
NM_020297.4(ABCC9):c.594T>A (p.Asn198Lys)
|
|
|
|
NM_020297.4(ABCC9):c.596C>G (p.Pro199Arg)
|
rs1948582454
|
|
|
NM_020297.4(ABCC9):c.641G>A (p.Arg214Lys)
|
|
|
|
NM_020297.4(ABCC9):c.653C>A (p.Pro218Gln)
|
|
|
|
NM_020297.4(ABCC9):c.680C>T (p.Thr227Ile)
|
rs1948579703
|
|
|
NM_020297.4(ABCC9):c.686G>T (p.Trp229Leu)
|
rs932177279
|
|
|
NM_020297.4(ABCC9):c.704T>C (p.Ile235Thr)
|
|
|
|
NM_020297.4(ABCC9):c.709T>C (p.Ser237Pro)
|
|
|
|
NM_020297.4(ABCC9):c.712G>C (p.Ala238Pro)
|
|
|
|
NM_020297.4(ABCC9):c.71G>C (p.Cys24Ser)
|
rs2138078170
|
|
|
NM_020297.4(ABCC9):c.723G>T (p.Lys241Asn)
|
rs1948578084
|
|
|
NM_020297.4(ABCC9):c.728T>G (p.Ile243Ser)
|
rs754113599
|
|
|
NM_020297.4(ABCC9):c.729del (p.Ile243fs)
|
|
|
|
NM_020297.4(ABCC9):c.746G>A (p.Gly249Glu)
|
|
|
|
NM_020297.4(ABCC9):c.7C>G (p.Leu3Val)
|
rs976596252
|
|
|
NM_020297.4(ABCC9):c.809A>C (p.Glu270Ala)
|
rs145774770
|
|
|
NM_020297.4(ABCC9):c.812A>G (p.Gln271Arg)
|
rs1948573607
|
|
|
NM_020297.4(ABCC9):c.816+4A>T
|
|
|
|
NM_020297.4(ABCC9):c.816G>T (p.Lys272Asn)
|
rs1592227285
|
|
|
NM_020297.4(ABCC9):c.819A>G (p.Lys273=)
|
|
|
|
NM_020297.4(ABCC9):c.820A>G (p.Lys274Glu)
|
|
|
|
NM_020297.4(ABCC9):c.821A>C (p.Lys274Thr)
|
rs1948394404
|
|
|
NM_020297.4(ABCC9):c.826G>A (p.Ala276Thr)
|
rs201783967
|
|
|
NM_020297.4(ABCC9):c.841C>T (p.Arg281Trp)
|
|
|
|
NM_020297.4(ABCC9):c.854_856dup (p.Ile285_Trp286insLeu)
|
rs2137892080
|
|
|
NM_020297.4(ABCC9):c.866T>C (p.Met289Thr)
|
|
|
|
NM_020297.4(ABCC9):c.867G>A (p.Met289Ile)
|
rs757665666
|
|
|
NM_020297.4(ABCC9):c.869A>T (p.Tyr290Phe)
|
|
|
|
NM_020297.4(ABCC9):c.873_874dup (p.Ala292fs)
|
rs1948391239
|
|
|
NM_020297.4(ABCC9):c.874G>A (p.Ala292Thr)
|
|
|
|
NM_020297.4(ABCC9):c.889A>G (p.Ile297Val)
|
rs895776110
|
|
|
NM_020297.4(ABCC9):c.88A>G (p.Asn30Asp)
|
|
|
|
NM_020297.4(ABCC9):c.895C>T (p.Leu299Phe)
|
rs2137891599
|
|
|
NM_020297.4(ABCC9):c.91C>G (p.Leu31Val)
|
|
|
|
NM_020297.4(ABCC9):c.959G>T (p.Gly320Val)
|
rs200272254
|
|
|
NM_020297.4(ABCC9):c.974T>C (p.Val325Ala)
|
rs1397301809
|
|
|
NM_020297.4(ABCC9):c.977A>G (p.Asn326Ser)
|
|
|
|
NM_020297.4(ABCC9):c.986A>C (p.Gln329Pro)
|
|
|
|
NM_020433.4(JPH2):c.493_514delinsC (p.Ser165_Asn172delinsHis)
|
rs1555858801
|
|
|
NM_020433.5(JPH2):c.1062G>C (p.Met354Ile)
|
rs546800323
|
|
|
NM_020433.5(JPH2):c.1079A>T (p.Asn360Ile)
|
|
|
|
NM_020433.5(JPH2):c.1083G>T (p.Lys361Asn)
|
rs971528622
|
|
|
NM_020433.5(JPH2):c.109G>A (p.Glu37Lys)
|
|
|
|
NM_020433.5(JPH2):c.109G>C (p.Glu37Gln)
|
rs1427861059
|
|
|
NM_020433.5(JPH2):c.1106G>C (p.Ser369Thr)
|
rs1600857310
|
|
|
NM_020433.5(JPH2):c.1115G>A (p.Gly372Asp)
|
|
|
|
NM_020433.5(JPH2):c.1123C>T (p.Arg375Cys)
|
rs1199319789
|
|
|
NM_020433.5(JPH2):c.1139C>A (p.Ala380Glu)
|
rs1216466447
|
|
|
NM_020433.5(JPH2):c.1142G>A (p.Arg381His)
|
|
|
|
NM_020433.5(JPH2):c.1148_1156del (p.Lys383_Glu385del)
|
|
|
|
NM_020433.5(JPH2):c.1162G>A (p.Ala388Thr)
|
|
|
|
NM_020433.5(JPH2):c.1170-3T>C
|
|
|
|
NM_020433.5(JPH2):c.1171A>G (p.Thr391Ala)
|
|
|
|
NM_020433.5(JPH2):c.1180_1181del (p.Ala394fs)
|
|
|
|
NM_020433.5(JPH2):c.1181C>G (p.Ala394Gly)
|
rs764133875
|
|
|
NM_020433.5(JPH2):c.1207C>G (p.Gln403Glu)
|
rs955381296
|
|
|
NM_020433.5(JPH2):c.1213G>A (p.Ala405Thr)
|
rs557878787
|
|
|
NM_020433.5(JPH2):c.1213G>T (p.Ala405Ser)
|
rs557878787
|
|
|
NM_020433.5(JPH2):c.1220C>A (p.Ala407Asp)
|
rs2072210950
|
|
|
NM_020433.5(JPH2):c.1235C>G (p.Ser412Cys)
|
rs1004964815
|
|
|
NM_020433.5(JPH2):c.1247G>A (p.Arg416His)
|
rs190802013
|
|
|
NM_020433.5(JPH2):c.1263G>T (p.Glu421Asp)
|
|
|
|
NM_020433.5(JPH2):c.1288+4G>A
|
rs1012633542
|
|
|
NM_020433.5(JPH2):c.1288+6del
|
|
|
|
NM_020433.5(JPH2):c.1296del (p.Glu432fs)
|
|
|
|
NM_020433.5(JPH2):c.1309C>T (p.Arg437Trp)
|
|
|
|
NM_020433.5(JPH2):c.1332G>T (p.Glu444Asp)
|
|
|
|
NM_020433.5(JPH2):c.1342A>G (p.Ser448Gly)
|
|
|
|
NM_020433.5(JPH2):c.1355C>T (p.Pro452Leu)
|
|
|
|
NM_020433.5(JPH2):c.1359_1388del (p.Asp454_Pro463del)
|
rs2145838837
|
|
|
NM_020433.5(JPH2):c.1361A>C (p.Asp454Ala)
|
|
|
|
NM_020433.5(JPH2):c.1367G>A (p.Gly456Asp)
|
|
|
|
NM_020433.5(JPH2):c.1375G>A (p.Ala459Thr)
|
|
|
|
NM_020433.5(JPH2):c.1375G>T (p.Ala459Ser)
|
|
|
|
NM_020433.5(JPH2):c.1376C>A (p.Ala459Glu)
|
|
|
|
NM_020433.5(JPH2):c.1379C>T (p.Ala460Val)
|
|
|
|
NM_020433.5(JPH2):c.1382G>A (p.Gly461Asp)
|
|
|
|
NM_020433.5(JPH2):c.1393C>T (p.Pro465Ser)
|
|
|
|
NM_020433.5(JPH2):c.1396C>T (p.Pro466Ser)
|
|
|
|
NM_020433.5(JPH2):c.1399C>G (p.Arg467Gly)
|
rs984065543
|
|
|
NM_020433.5(JPH2):c.1409C>T (p.Pro470Leu)
|
rs1312283242
|
|
|
NM_020433.5(JPH2):c.140A>C (p.Glu47Ala)
|
rs2072846446
|
|
|
NM_020433.5(JPH2):c.1430C>A (p.Thr477Asn)
|
|
|
|
NM_020433.5(JPH2):c.1442A>C (p.Glu481Ala)
|
|
|
|
NM_020433.5(JPH2):c.1445G>A (p.Gly482Asp)
|
|
|
|
NM_020433.5(JPH2):c.1459C>T (p.Pro487Ser)
|
|
|
|
NM_020433.5(JPH2):c.1464C>A (p.Ala488=)
|
rs1060499997
|
|
|
NM_020433.5(JPH2):c.1477C>T (p.Gln493Ter)
|
rs2072190444
|
|
|
NM_020433.5(JPH2):c.1487G>A (p.Arg496Gln)
|
rs1404072085
|
|
|
NM_020433.5(JPH2):c.1513G>C (p.Gly505Arg)
|
rs140740776
|
|
|
NM_020433.5(JPH2):c.1516C>G (p.Leu506Val)
|
|
|
|
NM_020433.5(JPH2):c.1529G>A (p.Gly510Asp)
|
|
|
|
NM_020433.5(JPH2):c.1552G>A (p.Gly518Ser)
|
|
|
|
NM_020433.5(JPH2):c.1552G>T (p.Gly518Cys)
|
rs926337524
|
|
|
NM_020433.5(JPH2):c.1573A>G (p.Thr525Ala)
|
|
|
|
NM_020433.5(JPH2):c.1598G>A (p.Arg533His)
|
|
|
|
NM_020433.5(JPH2):c.1624C>T (p.Arg542Cys)
|
|
|
|
NM_020433.5(JPH2):c.1625G>T (p.Arg542Leu)
|
rs369279135
|
|
|
NM_020433.5(JPH2):c.1630G>A (p.Ala544Thr)
|
rs761535957
|
|
|
NM_020433.5(JPH2):c.1645C>T (p.Gln549Ter)
|
rs1260496472
|
|
|
NM_020433.5(JPH2):c.164C>T (p.Pro55Leu)
|
rs1060499996
|
|
|
NM_020433.5(JPH2):c.1652C>T (p.Pro551Leu)
|
|
|
|
NM_020433.5(JPH2):c.1666C>G (p.Arg556Gly)
|
|
|
|
NM_020433.5(JPH2):c.1682C>T (p.Ala561Val)
|
|
|
|
NM_020433.5(JPH2):c.1699C>T (p.His567Tyr)
|
|
|
|
NM_020433.5(JPH2):c.1712T>C (p.Val571Ala)
|
|
|
|
NM_020433.5(JPH2):c.1714C>T (p.Arg572Cys)
|
rs377366285
|
|
|
NM_020433.5(JPH2):c.1724C>T (p.Pro575Leu)
|
rs1310645221
|
|
|
NM_020433.5(JPH2):c.1726C>T (p.Pro576Ser)
|
|
|
|
NM_020433.5(JPH2):c.1747_1752dup (p.Gln584_Pro585insAspGln)
|
|
|
|
NM_020433.5(JPH2):c.1753CCCGAG[1] (p.585PE[1])
|
|
|
|
NM_020433.5(JPH2):c.1754C>T (p.Pro585Leu)
|
|
|
|
NM_020433.5(JPH2):c.1759_1779dup (p.Pro587_Glu593dup)
|
rs774773499
|
|
|
NM_020433.5(JPH2):c.176C>A (p.Thr59Asn)
|
|
|
|
NM_020433.5(JPH2):c.1777G>C (p.Glu593Gln)
|
rs1160134535
|
|
|
NM_020433.5(JPH2):c.1778A>G (p.Glu593Gly)
|
rs1569180881
|
|
|
NM_020433.5(JPH2):c.1790C>T (p.Ser597Leu)
|
rs775179837
|
|
|
NM_020433.5(JPH2):c.1792_1797dup (p.Ser598_Pro599dup)
|
rs2145838238
|
|
|
NM_020433.5(JPH2):c.1795C>G (p.Pro599Ala)
|
|
|
|
NM_020433.5(JPH2):c.1795C>T (p.Pro599Ser)
|
|
|
|
NM_020433.5(JPH2):c.1814A>G (p.Gln605Arg)
|
rs2145838201
|
|
|
NM_020433.5(JPH2):c.1817C>T (p.Ala606Val)
|
|
|
|
NM_020433.5(JPH2):c.1823C>A (p.Thr608Lys)
|
rs750776027
|
|
|
NM_020433.5(JPH2):c.1826T>C (p.Leu609Pro)
|
|
|
|
NM_020433.5(JPH2):c.1871C>G (p.Pro624Arg)
|
|
|
|
NM_020433.5(JPH2):c.1879A>G (p.Ile627Val)
|
rs1259877706
|
|
|
NM_020433.5(JPH2):c.1882A>G (p.Ile628Val)
|
rs2145838095
|
|
|
NM_020433.5(JPH2):c.1903G>C (p.Ala635Pro)
|
rs1409841420
|
|
|
NM_020433.5(JPH2):c.1904C>A (p.Ala635Asp)
|
rs2145838059
|
|
|
NM_020433.5(JPH2):c.1906A>G (p.Lys636Glu)
|
rs2145838058
|
|
|
NM_020433.5(JPH2):c.1936A>G (p.Thr646Ala)
|
|
|
|
NM_020433.5(JPH2):c.1936A>T (p.Thr646Ser)
|
rs747762930
|
|
|
NM_020433.5(JPH2):c.1937C>G (p.Thr646Ser)
|
rs1600828763
|
|
|
NM_020433.5(JPH2):c.1942G>A (p.Ala648Thr)
|
|
|
|
NM_020433.5(JPH2):c.1948_1965dup (p.Ala650_Arg655dup)
|
rs1555853257
|
|
|
NM_020433.5(JPH2):c.1951AAG[2] (p.Lys653del)
|
rs111666278
|
|
|
NM_020433.5(JPH2):c.1961C>T (p.Ala654Val)
|
rs1175261037
|
|
|
NM_020433.5(JPH2):c.1962dup (p.Arg655fs)
|
rs2072183597
|
|
|
NM_020433.5(JPH2):c.1964G>A (p.Arg655Gln)
|
rs1569180563
|
|
|
NM_020433.5(JPH2):c.1975G>A (p.Ala659Thr)
|
rs1600828677
|
|
|
NM_020433.5(JPH2):c.1991C>A (p.Ala664Glu)
|
rs766295044
|
|
|
NM_020433.5(JPH2):c.2006_2010+1dup
|
rs2072182869
|
|
|
NM_020433.5(JPH2):c.2018A>G (p.Asn673Ser)
|
rs781780252
|
|
|
NM_020433.5(JPH2):c.2021C>T (p.Thr674Ile)
|
|
|
|
NM_020433.5(JPH2):c.2035A>G (p.Met679Val)
|
|
|
|
NM_020433.5(JPH2):c.2044CTG[1] (p.Leu683del)
|
rs2072175115
|
|
|
NM_020433.5(JPH2):c.2066T>C (p.Ile689Thr)
|
|
|
|
NM_020433.5(JPH2):c.2073_2074inv (p.Val692Ile)
|
|
|
|
NM_020433.5(JPH2):c.2077C>G (p.His693Asp)
|
|
|
|
NM_020433.5(JPH2):c.211G>T (p.Gly71Trp)
|
|
|
|
NM_020433.5(JPH2):c.229A>G (p.Lys77Glu)
|
rs2072844538
|
|
|
NM_020433.5(JPH2):c.235C>T (p.Arg79Cys)
|
|
|
|
NM_020433.5(JPH2):c.23T>C (p.Phe8Ser)
|
rs2072848592
|
|
|
NM_020433.5(JPH2):c.245A>G (p.Tyr82Cys)
|
rs774330827
|
|
|
NM_020433.5(JPH2):c.266G>A (p.Gly89Asp)
|
|
|
|
NM_020433.5(JPH2):c.289C>T (p.Arg97Trp)
|
rs746943770
|
|
|
NM_020433.5(JPH2):c.296G>A (p.Ser99Asn)
|
|
|
|
NM_020433.5(JPH2):c.296G>C (p.Ser99Thr)
|
|
|
|
NM_020433.5(JPH2):c.306C>A (p.Ser102Arg)
|
|
|
|
NM_020433.5(JPH2):c.307G>A (p.Gly103Ser)
|
rs530754608
|
|
|
NM_020433.5(JPH2):c.349G>T (p.Gly117Cys)
|
rs1414551155
|
|
|
NM_020433.5(JPH2):c.349_351del (p.Gly117del)
|
rs1351653670
|
|
|
NM_020433.5(JPH2):c.361G>A (p.Glu121Lys)
|
rs1569226231
|
|
|
NM_020433.5(JPH2):c.364dup (p.Thr122fs)
|
rs2145905725
|
|
|
NM_020433.5(JPH2):c.376G>A (p.Gly126Arg)
|
rs876657834
|
|
|
NM_020433.5(JPH2):c.409A>T (p.Met137Leu)
|
|
|
|
NM_020433.5(JPH2):c.416A>G (p.His139Arg)
|
|
|
|
NM_020433.5(JPH2):c.424G>A (p.Gly142Arg)
|
|
|
|
NM_020433.5(JPH2):c.436A>G (p.Ser146Gly)
|
rs1600858194
|
|
|
NM_020433.5(JPH2):c.439G>A (p.Val147Met)
|
rs1012335909
|
|
|
NM_020433.5(JPH2):c.448G>C (p.Gly150Arg)
|
rs1231304653
|
|
|
NM_020433.5(JPH2):c.464T>C (p.Val155Ala)
|
rs2072601326
|
|
|
NM_020433.5(JPH2):c.466C>T (p.Arg156Cys)
|
rs543732492
|
|
|
NM_020433.5(JPH2):c.470C>T (p.Ser157Leu)
|
|
|
|
NM_020433.5(JPH2):c.473C>T (p.Pro158Leu)
|
rs1375422053
|
|
|
NM_020433.5(JPH2):c.476T>A (p.Leu159Gln)
|
rs886038834
|
|
|
NM_020433.5(JPH2):c.478C>T (p.Arg160Cys)
|
|
|
|
NM_020433.5(JPH2):c.499C>A (p.Arg167Ser)
|
|
|
|
NM_020433.5(JPH2):c.502A>G (p.Ser168Gly)
|
rs869025439
|
|
|
NM_020433.5(JPH2):c.504C>T (p.Ser168=)
|
rs2072600851
|
|
|
NM_020433.5(JPH2):c.511_516dup (p.Ser171_Asn172dup)
|
rs864309612
|
|
|
NM_020433.5(JPH2):c.517G>C (p.Gly173Arg)
|
rs757693348
|
|
|
NM_020433.5(JPH2):c.521C>T (p.Thr174Met)
|
|
|
|
NM_020433.5(JPH2):c.532G>A (p.Asp178Asn)
|
rs1600858066
|
|
|
NM_020433.5(JPH2):c.539C>T (p.Pro180Leu)
|
rs2072600381
|
|
|
NM_020433.5(JPH2):c.547C>G (p.Pro183Ala)
|
|
|
|
NM_020433.5(JPH2):c.560del (p.Gly187fs)
|
|
|
|
NM_020433.5(JPH2):c.57G>T (p.Glu19Asp)
|
|
|
|
NM_020433.5(JPH2):c.580G>T (p.Ala194Ser)
|
rs914203878
|
|
|
NM_020433.5(JPH2):c.586C>G (p.Pro196Ala)
|
|
|
|
NM_020433.5(JPH2):c.590G>A (p.Arg197His)
|
|
|
|
NM_020433.5(JPH2):c.590G>T (p.Arg197Leu)
|
rs1258920337
|
|
|
NM_020433.5(JPH2):c.596G>A (p.Gly199Asp)
|
rs2072599448
|
|
|
NM_020433.5(JPH2):c.5G>A (p.Ser2Asn)
|
|
|
|
NM_020433.5(JPH2):c.601_602delinsTT (p.Ala201Leu)
|
|
|
|
NM_020433.5(JPH2):c.607A>G (p.Ser203Gly)
|
rs2145879448
|
|
|
NM_020433.5(JPH2):c.611T>A (p.Leu204His)
|
|
|
|
NM_020433.5(JPH2):c.617C>T (p.Ala206Val)
|
|
|
|
NM_020433.5(JPH2):c.622G>A (p.Ala208Thr)
|
|
|
|
NM_020433.5(JPH2):c.62G>A (p.Gly21Glu)
|
rs2072847837
|
|
|
NM_020433.5(JPH2):c.646A>C (p.Lys216Gln)
|
|
|
|
NM_020433.5(JPH2):c.649G>A (p.Gly217Ser)
|
rs1346458604
|
|
|
NM_020433.5(JPH2):c.650_651delinsCT (p.Gly217Ala)
|
rs2145879374
|
|
|
NM_020433.5(JPH2):c.658C>G (p.Leu220Val)
|
|
|
|
NM_020433.5(JPH2):c.680T>G (p.Leu227Arg)
|
|
|
|
NM_020433.5(JPH2):c.683G>A (p.Gly228Asp)
|
|
|
|
NM_020433.5(JPH2):c.686A>G (p.Lys229Arg)
|
|
|
|
NM_020433.5(JPH2):c.700G>A (p.Glu234Lys)
|
rs13041770
|
|
|
NM_020433.5(JPH2):c.718G>T (p.Gly240Cys)
|
rs2145879251
|
|
|
NM_020433.5(JPH2):c.739A>G (p.Ser247Gly)
|
|
|
|
NM_020433.5(JPH2):c.756C>A (p.Asp252Glu)
|
rs2145879184
|
|
|
NM_020433.5(JPH2):c.775G>A (p.Asp259Asn)
|
|
|
|
NM_020433.5(JPH2):c.793A>G (p.Ser265Gly)
|
|
|
|
NM_020433.5(JPH2):c.795C>G (p.Ser265Arg)
|
rs1555858729
|
|
|
NM_020433.5(JPH2):c.810_830del (p.Glu271_Ala277del)
|
rs1308789253
|
|
|
NM_020433.5(JPH2):c.817G>A (p.Ala273Thr)
|
|
|
|
NM_020433.5(JPH2):c.817G>T (p.Ala273Ser)
|
|
|
|
NM_020433.5(JPH2):c.818C>T (p.Ala273Val)
|
|
|
|
NM_020433.5(JPH2):c.852C>A (p.Asp284Glu)
|
rs747209399
|
|
|
NM_020433.5(JPH2):c.869C>G (p.Thr290Ser)
|
rs757257639
|
|
|
NM_020433.5(JPH2):c.869C>T (p.Thr290Ile)
|
rs757257639
|
|
|
NM_020433.5(JPH2):c.874A>C (p.Met292Leu)
|
|
|
|
NM_020433.5(JPH2):c.875T>C (p.Met292Thr)
|
rs1380514288
|
|
|
NM_020433.5(JPH2):c.876G>A (p.Met292Ile)
|
|
|
|
NM_020433.5(JPH2):c.877G>T (p.Gly293Cys)
|
rs1359821067
|
|
|
NM_020433.5(JPH2):c.887A>C (p.Lys296Thr)
|
rs1600857521
|
|
|
NM_020433.5(JPH2):c.899G>A (p.Arg300His)
|
|
|
|
NM_020433.5(JPH2):c.899G>C (p.Arg300Pro)
|
rs2072594403
|
|
|
NM_020433.5(JPH2):c.902C>T (p.Ser301Leu)
|
|
|
|
NM_020433.5(JPH2):c.92G>A (p.Gly31Asp)
|
rs1569226648
|
|
|
NM_020433.5(JPH2):c.931G>A (p.Gly311Ser)
|
|
|
|
NM_020433.5(JPH2):c.944A>G (p.Glu315Gly)
|
rs1339779323
|
|
|
NM_020433.5(JPH2):c.946G>A (p.Gly316Ser)
|
rs2145878846
|
|
|
NM_020433.5(JPH2):c.949G>A (p.Glu317Lys)
|
rs1054295023
|
|
|
NM_020433.5(JPH2):c.958G>A (p.Asp320Asn)
|
rs2072593559
|
|
|
NM_020433.5(JPH2):c.967C>A (p.Arg323Ser)
|
|
|
|
NM_020433.5(JPH2):c.975_976delinsAC (p.Tyr326His)
|
|
|
|
NM_020433.5(JPH2):c.986C>A (p.Thr329Asn)
|
rs1555858670
|
|
|
NM_020433.5(JPH2):c.98A>G (p.Lys33Arg)
|
rs573848816
|
|
|
NM_021044.4(DHH):c.121G>T (p.Val41Leu)
|
|
|
|
NM_021044.4(DHH):c.151G>A (p.Gly51Ser)
|
|
|
|
NM_021044.4(DHH):c.286G>T (p.Asp96Tyr)
|
rs1795489232
|
|
|
NM_021044.4(DHH):c.324C>A (p.Asn108Lys)
|
rs750761379
|
|
|
NM_021044.4(DHH):c.566-8C>G
|
|
|
|
NM_021044.4(DHH):c.602C>A (p.Pro201Gln)
|
|
|
|
NM_021044.4(DHH):c.605G>A (p.Gly202Glu)
|
rs2120824377
|
|
|
NM_021044.4(DHH):c.799C>G (p.Leu267Val)
|
rs2120822817
|
|
|
NM_021044.4(DHH):c.822T>G (p.Phe274Leu)
|
rs1242767279
|
|
|
NM_021044.4(DHH):c.980C>A (p.Pro327Gln)
|
rs1939268481
|
|
|
NM_021167.5(GATAD1):c.106C>T (p.Arg36Trp)
|
rs1166946596
|
|
|
NM_021167.5(GATAD1):c.107G>A (p.Arg36Gln)
|
rs934989780
|
|
|
NM_021167.5(GATAD1):c.107G>C (p.Arg36Pro)
|
|
|
|
NM_021167.5(GATAD1):c.109G>A (p.Gly37Ser)
|
|
|
|
NM_021167.5(GATAD1):c.109G>C (p.Gly37Arg)
|
rs1562816200
|
|
|
NM_021167.5(GATAD1):c.112_120del (p.Gly38_Gly40del)
|
rs1010099230
|
|
|
NM_021167.5(GATAD1):c.117_131del (p.38_42GAGSG[1])
|
rs779421592
|
|
|
NM_021167.5(GATAD1):c.131_144del (p.Ala44fs)
|
|
|
|
NM_021167.5(GATAD1):c.145G>T (p.Ala49Ser)
|
rs2115836818
|
|
|
NM_021167.5(GATAD1):c.155C>G (p.Thr52Ser)
|
rs2115836944
|
|
|
NM_021167.5(GATAD1):c.157G>C (p.Gly53Arg)
|
rs988478105
|
|
|
NM_021167.5(GATAD1):c.157G>T (p.Gly53Trp)
|
rs988478105
|
|
|
NM_021167.5(GATAD1):c.163A>G (p.Ser55Gly)
|
|
|
|
NM_021167.5(GATAD1):c.163A>T (p.Ser55Cys)
|
rs932471141
|
|
|
NM_021167.5(GATAD1):c.170G>C (p.Gly57Ala)
|
rs946556857
|
|
|
NM_021167.5(GATAD1):c.184G>A (p.Ala62Thr)
|
rs1445688677
|
|
|
NM_021167.5(GATAD1):c.184G>T (p.Ala62Ser)
|
rs1445688677
|
|
|
NM_021167.5(GATAD1):c.185C>T (p.Ala62Val)
|
rs1562816344
|
|
|
NM_021167.5(GATAD1):c.231GGGCGG[3] (p.Gly80_Gly81dup)
|
rs1415933913
|
|
|
NM_021167.5(GATAD1):c.235G>A (p.Gly79Arg)
|
|
|
|
NM_021167.5(GATAD1):c.241G>A (p.Gly81Ser)
|
rs1789230677
|
|
|
NM_021167.5(GATAD1):c.243C>T (p.Gly81=)
|
|
|
|
NM_021167.5(GATAD1):c.249+2T>C
|
rs876657813
|
|
|
NM_021167.5(GATAD1):c.288A>T (p.Arg96Ser)
|
|
|
|
NM_021167.5(GATAD1):c.307G>T (p.Ala103Ser)
|
rs1789290199
|
|
|
NM_021167.5(GATAD1):c.311_312delinsAA (p.Pro104Gln)
|
rs1789291007
|
|
|
NM_021167.5(GATAD1):c.353G>A (p.Arg118Lys)
|
rs1789292576
|
|
|
NM_021167.5(GATAD1):c.36C>T (p.Cys12=)
|
|
|
|
NM_021167.5(GATAD1):c.389C>A (p.Pro130His)
|
rs1789390751
|
|
|
NM_021167.5(GATAD1):c.38A>G (p.Lys13Arg)
|
|
|
|
NM_021167.5(GATAD1):c.411C>G (p.Ile137Met)
|
rs1157446233
|
|
|
NM_021167.5(GATAD1):c.424A>G (p.Ile142Val)
|
|
|
|
NM_021167.5(GATAD1):c.503C>G (p.Ala168Gly)
|
|
|
|
NM_021167.5(GATAD1):c.538G>C (p.Glu180Gln)
|
|
|
|
NM_021167.5(GATAD1):c.547G>A (p.Ala183Thr)
|
|
|
|
NM_021167.5(GATAD1):c.575T>C (p.Leu192Pro)
|
rs370960226
|
|
|
NM_021167.5(GATAD1):c.57G>A (p.Met19Ile)
|
rs1789217100
|
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NM_021167.5(GATAD1):c.583C>A (p.Pro195Thr)
|
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NM_021167.5(GATAD1):c.604G>C (p.Ala202Pro)
|
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NM_021167.5(GATAD1):c.604G>T (p.Ala202Ser)
|
rs564747350
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NM_021167.5(GATAD1):c.627G>T (p.Glu209Asp)
|
rs2115885370
|
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NM_021167.5(GATAD1):c.62A>G (p.Lys21Arg)
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NM_021167.5(GATAD1):c.632A>T (p.Asp211Val)
|
rs2115885418
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NM_021167.5(GATAD1):c.647T>C (p.Met216Thr)
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NM_021167.5(GATAD1):c.691A>G (p.Lys231Glu)
|
rs2115885587
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NM_021167.5(GATAD1):c.698G>A (p.Arg233Gln)
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NM_021167.5(GATAD1):c.740G>T (p.Gly247Val)
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NM_021167.5(GATAD1):c.770dup (p.Ala258fs)
|
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NM_021167.5(GATAD1):c.777A>G (p.Ile259Met)
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NM_021167.5(GATAD1):c.787G>C (p.Glu263Gln)
|
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NM_021167.5(GATAD1):c.791C>T (p.Ser264Leu)
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NM_022114.4(PRDM16):c.1007G>A (p.Arg336His)
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NM_022114.4(PRDM16):c.101C>T (p.Ala34Val)
|
rs779535977
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NM_022114.4(PRDM16):c.1027G>A (p.Val343Met)
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NM_022114.4(PRDM16):c.1032+5C>T
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NM_022114.4(PRDM16):c.1032+6C>A
|
rs760680871
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NM_022114.4(PRDM16):c.1032G>C (p.Lys344Asn)
|
rs2100646305
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NM_022114.4(PRDM16):c.103G>A (p.Glu35Lys)
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NM_022114.4(PRDM16):c.1047dup (p.Ser350fs)
|
rs1643547095
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NM_022114.4(PRDM16):c.1056dup (p.Gln353fs)
|
rs1643547220
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NM_022114.4(PRDM16):c.1061G>A (p.Arg354Gln)
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NM_022114.4(PRDM16):c.1069C>T (p.Arg357Cys)
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NM_022114.4(PRDM16):c.1081G>A (p.Val361Met)
|
rs876657957
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NM_022114.4(PRDM16):c.1085G>A (p.Gly362Asp)
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NM_022114.4(PRDM16):c.1088C>T (p.Ala363Val)
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NM_022114.4(PRDM16):c.1108G>A (p.Asp370Asn)
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NM_022114.4(PRDM16):c.1114G>A (p.Gly372Arg)
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NM_022114.4(PRDM16):c.1185A>G (p.Ile395Met)
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NM_022114.4(PRDM16):c.1196G>A (p.Cys399Tyr)
|
rs2100662054
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NM_022114.4(PRDM16):c.1232G>A (p.Arg411Gln)
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NM_022114.4(PRDM16):c.1242del (p.Met415fs)
|
rs1643684087
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NM_022114.4(PRDM16):c.1252G>A (p.Asp418Asn)
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NM_022114.4(PRDM16):c.1253A>G (p.Asp418Gly)
|
rs2100662132
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NM_022114.4(PRDM16):c.1327C>T (p.Arg443Cys)
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NM_022114.4(PRDM16):c.1348C>T (p.His450Tyr)
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NM_022114.4(PRDM16):c.134C>A (p.Pro45His)
|
rs1644265658
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NM_022114.4(PRDM16):c.1351T>C (p.Tyr451His)
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NM_022114.4(PRDM16):c.1366A>G (p.Ile456Val)
|
rs748673433
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NM_022114.4(PRDM16):c.1376C>T (p.Pro459Leu)
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NM_022114.4(PRDM16):c.1385C>G (p.Pro462Arg)
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NM_022114.4(PRDM16):c.1394C>T (p.Pro465Leu)
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NM_022114.4(PRDM16):c.1419A>C (p.Lys473Asn)
|
rs1569727906
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NM_022114.4(PRDM16):c.1434_1448del (p.Asn479_Leu483del)
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NM_022114.4(PRDM16):c.1478C>G (p.Pro493Arg)
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NM_022114.4(PRDM16):c.1478C>T (p.Pro493Leu)
|
rs368384353
|
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NM_022114.4(PRDM16):c.1482C>G (p.His494Gln)
|
rs755193238
|
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NM_022114.4(PRDM16):c.1490G>A (p.Ser497Asn)
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NM_022114.4(PRDM16):c.1495C>T (p.Pro499Ser)
|
rs1553176454
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NM_022114.4(PRDM16):c.1496_1497del (p.Pro499fs)
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NM_022114.4(PRDM16):c.1513C>T (p.Pro505Ser)
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NM_022114.4(PRDM16):c.152C>T (p.Pro51Leu)
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NM_022114.4(PRDM16):c.1541T>C (p.Phe514Ser)
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NM_022114.4(PRDM16):c.1597_1598delinsCT (p.Ser533Leu)
|
rs1643691703
|
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NM_022114.4(PRDM16):c.1600C>A (p.Leu534Met)
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NM_022114.4(PRDM16):c.1615dup (p.Leu539fs)
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NM_022114.4(PRDM16):c.1634C>T (p.Ala545Val)
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NM_022114.4(PRDM16):c.1681G>A (p.Ala561Thr)
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NM_022114.4(PRDM16):c.1700A>G (p.Gln567Arg)
|
rs1643694103
|
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NM_022114.4(PRDM16):c.1718C>T (p.Ala573Val)
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NM_022114.4(PRDM16):c.1726GAG[1] (p.Glu577del)
|
rs779522289
|
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NM_022114.4(PRDM16):c.1737C>A (p.Phe579Leu)
|
rs35579804
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NM_022114.4(PRDM16):c.1737C>G (p.Phe579Leu)
|
rs35579804
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NM_022114.4(PRDM16):c.1738G>C (p.Glu580Gln)
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NM_022114.4(PRDM16):c.1753G>A (p.Asp585Asn)
|
rs1643695439
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NM_022114.4(PRDM16):c.1755C>G (p.Asp585Glu)
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NM_022114.4(PRDM16):c.1759T>C (p.Cys587Arg)
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NM_022114.4(PRDM16):c.1794G>A (p.Met598Ile)
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NM_022114.4(PRDM16):c.1819G>A (p.Val607Ile)
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NM_022114.4(PRDM16):c.1819_1823delinsTTCAT (p.Val607_Asn608delinsPheIle)
|
rs1553176630
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NM_022114.4(PRDM16):c.1829C>T (p.Thr610Ile)
|
rs1231085914
|
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NM_022114.4(PRDM16):c.1840G>A (p.Asp614Asn)
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NM_022114.4(PRDM16):c.184C>T (p.Pro62Ser)
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NM_022114.4(PRDM16):c.1855A>T (p.Thr619Ser)
|
rs1643698269
|
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NM_022114.4(PRDM16):c.185C>T (p.Pro62Leu)
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NM_022114.4(PRDM16):c.1862C>T (p.Thr621Met)
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NM_022114.4(PRDM16):c.1865G>A (p.Gly622Asp)
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NM_022114.4(PRDM16):c.1885G>A (p.Val629Met)
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NM_022114.4(PRDM16):c.1894G>A (p.Asp632Asn)
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NM_022114.4(PRDM16):c.1901ACAAGG[1] (p.634DK[1])
|
rs772557308
|
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NM_022114.4(PRDM16):c.1906G>A (p.Asp636Asn)
|
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NM_022114.4(PRDM16):c.1912GGCAAG[1] (p.638GK[1])
|
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NM_022114.4(PRDM16):c.1930G>C (p.Glu644Gln)
|
rs61756438
|
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NM_022114.4(PRDM16):c.1961_1970del (p.Ala654fs)
|
rs2100663690
|
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NM_022114.4(PRDM16):c.1967C>T (p.Pro656Leu)
|
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NM_022114.4(PRDM16):c.1988C>T (p.Ala663Val)
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NM_022114.4(PRDM16):c.1996C>G (p.Pro666Ala)
|
rs2100663792
|
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NM_022114.4(PRDM16):c.2006A>G (p.Tyr669Cys)
|
rs1643702661
|
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NM_022114.4(PRDM16):c.200C>T (p.Pro67Leu)
|
rs1060501005
|
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NM_022114.4(PRDM16):c.2016C>G (p.His672Gln)
|
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NM_022114.4(PRDM16):c.2021T>A (p.Phe674Tyr)
|
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NM_022114.4(PRDM16):c.2027C>T (p.Pro676Leu)
|
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NM_022114.4(PRDM16):c.2089G>A (p.Ala697Thr)
|
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NM_022114.4(PRDM16):c.2089G>T (p.Ala697Ser)
|
rs779334537
|
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NM_022114.4(PRDM16):c.2113G>C (p.Gly705Arg)
|
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NM_022114.4(PRDM16):c.2114del (p.Gly705fs)
|
rs1643705557
|
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NM_022114.4(PRDM16):c.2119G>A (p.Gly707Ser)
|
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NM_022114.4(PRDM16):c.2119G>C (p.Gly707Arg)
|
rs767432596
|
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NM_022114.4(PRDM16):c.2132T>A (p.Met711Lys)
|
rs2100664117
|
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NM_022114.4(PRDM16):c.2133G>A (p.Met711Ile)
|
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NM_022114.4(PRDM16):c.2133G>T (p.Met711Ile)
|
rs1171883892
|
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NM_022114.4(PRDM16):c.2134C>G (p.Gln712Glu)
|
rs2100664124
|
|
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NM_022114.4(PRDM16):c.213del (p.Val72fs)
|
rs1569798933
|
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|
NM_022114.4(PRDM16):c.2150G>A (p.Gly717Asp)
|
|
|
|
NM_022114.4(PRDM16):c.2161T>A (p.Tyr721Asn)
|
rs2100664195
|
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NM_022114.4(PRDM16):c.2167T>A (p.Ser723Thr)
|
rs1643706770
|
|
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NM_022114.4(PRDM16):c.2168C>T (p.Ser723Leu)
|
rs769438373
|
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NM_022114.4(PRDM16):c.2171C>T (p.Ala724Val)
|
|
|
|
NM_022114.4(PRDM16):c.2175C>A (p.Phe725Leu)
|
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NM_022114.4(PRDM16):c.217T>G (p.Tyr73Asp)
|
rs2100798027
|
|
|
NM_022114.4(PRDM16):c.2191C>T (p.Pro731Ser)
|
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|
|
NM_022114.4(PRDM16):c.2216C>A (p.Pro739His)
|
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|
|
NM_022114.4(PRDM16):c.2225A>G (p.Asp742Gly)
|
rs1643707625
|
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NM_022114.4(PRDM16):c.2227C>G (p.Arg743Gly)
|
rs560412765
|
|
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NM_022114.4(PRDM16):c.2227C>T (p.Arg743Ter)
|
rs560412765
|
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NM_022114.4(PRDM16):c.2228G>A (p.Arg743Gln)
|
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|
|
NM_022114.4(PRDM16):c.2228_2229inv (p.Arg743Leu)
|
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|
|
NM_022114.4(PRDM16):c.2236G>A (p.Ala746Thr)
|
rs375259092
|
|
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NM_022114.4(PRDM16):c.2236G>T (p.Ala746Ser)
|
|
|
|
NM_022114.4(PRDM16):c.2244C>G (p.Asn748Lys)
|
|
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NM_022114.4(PRDM16):c.2247G>C (p.Leu749Phe)
|
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|
|
NM_022114.4(PRDM16):c.2259_2260delinsTC (p.Glu754Gln)
|
rs2100664386
|
|
|
NM_022114.4(PRDM16):c.2263C>A (p.Pro755Thr)
|
|
|
|
NM_022114.4(PRDM16):c.2272C>T (p.Pro758Ser)
|
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|
NM_022114.4(PRDM16):c.2291T>G (p.Val764Gly)
|
|
|
|
NM_022114.4(PRDM16):c.2302A>G (p.Ser768Gly)
|
rs772054022
|
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NM_022114.4(PRDM16):c.2304T>G (p.Ser768Arg)
|
|
|
|
NM_022114.4(PRDM16):c.2310G>C (p.Glu770Asp)
|
rs1643709736
|
|
|
NM_022114.4(PRDM16):c.2334G>C (p.Lys778Asn)
|
rs1569732620
|
|
|
NM_022114.4(PRDM16):c.2336C>G (p.Pro779Arg)
|
|
|
|
NM_022114.4(PRDM16):c.2336C>T (p.Pro779Leu)
|
|
|
|
NM_022114.4(PRDM16):c.2339A>G (p.Lys780Arg)
|
rs1038198761
|
|
|
NM_022114.4(PRDM16):c.2344G>A (p.Val782Met)
|
|
|
|
NM_022114.4(PRDM16):c.2344G>T (p.Val782Leu)
|
rs763116381
|
|
|
NM_022114.4(PRDM16):c.2360C>T (p.Pro787Leu)
|
|
|
|
NM_022114.4(PRDM16):c.2378C>T (p.Ser793Leu)
|
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|
|
NM_022114.4(PRDM16):c.2389T>C (p.Ser797Pro)
|
rs2100664655
|
|
|
NM_022114.4(PRDM16):c.2395G>A (p.Glu799Lys)
|
|
|
|
NM_022114.4(PRDM16):c.2405C>T (p.Pro802Leu)
|
rs1213107052
|
|
|
NM_022114.4(PRDM16):c.2428dup (p.Arg810fs)
|
|
|
|
NM_022114.4(PRDM16):c.2429G>A (p.Arg810Gln)
|
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|
|
NM_022114.4(PRDM16):c.2443C>T (p.Gln815Ter)
|
rs1060500997
|
|
|
NM_022114.4(PRDM16):c.2455G>C (p.Gly819Arg)
|
|
|
|
NM_022114.4(PRDM16):c.2456G>A (p.Gly819Glu)
|
rs2100664858
|
|
|
NM_022114.4(PRDM16):c.2498T>C (p.Leu833Pro)
|
rs1569733602
|
|
|
NM_022114.4(PRDM16):c.2513_2524dup (p.Gly838_Gln841dup)
|
rs771093380
|
|
|
NM_022114.4(PRDM16):c.2519C>A (p.Pro840His)
|
|
|
|
NM_022114.4(PRDM16):c.2521_2526dup (p.Gln841_Val842dup)
|
rs776728016
|
|
|
NM_022114.4(PRDM16):c.2531C>T (p.Pro844Leu)
|
|
|
|
NM_022114.4(PRDM16):c.2534C>T (p.Ala845Val)
|
|
|
|
NM_022114.4(PRDM16):c.2537G>A (p.Arg846Gln)
|
|
|
|
NM_022114.4(PRDM16):c.2555C>T (p.Pro852Leu)
|
|
|
|
NM_022114.4(PRDM16):c.2590G>A (p.Asp864Asn)
|
rs1182769018
|
|
|
NM_022114.4(PRDM16):c.2593C>A (p.Pro865Thr)
|
|
|
|
NM_022114.4(PRDM16):c.2594C>G (p.Pro865Arg)
|
rs912508418
|
|
|
NM_022114.4(PRDM16):c.2596A>T (p.Ile866Phe)
|
|
|
|
NM_022114.4(PRDM16):c.259C>T (p.Arg87Ter)
|
|
|
|
NM_022114.4(PRDM16):c.2600A>G (p.Tyr867Cys)
|
rs1643715642
|
|
|
NM_022114.4(PRDM16):c.2604-1G>T
|
rs1468393697
|
|
|
NM_022114.4(PRDM16):c.2617C>T (p.Arg873Trp)
|
|
|
|
NM_022114.4(PRDM16):c.2631C>A (p.Asp877Glu)
|
rs1643748009
|
|
|
NM_022114.4(PRDM16):c.2686C>T (p.Pro896Ser)
|
|
|
|
NM_022114.4(PRDM16):c.2689C>T (p.Gln897Ter)
|
rs1643749630
|
|
|
NM_022114.4(PRDM16):c.2692-3C>T
|
|
|
|
NM_022114.4(PRDM16):c.2694G>A (p.Met898Ile)
|
rs759958364
|
|
|
NM_022114.4(PRDM16):c.2743A>C (p.Lys915Gln)
|
rs1638313904
|
|
|
NM_022114.4(PRDM16):c.2743A>G (p.Lys915Glu)
|
|
|
|
NM_022114.4(PRDM16):c.2749G>T (p.Asp917Tyr)
|
rs2100675937
|
|
|
NM_022114.4(PRDM16):c.2753C>T (p.Ser918Leu)
|
|
|
|
NM_022114.4(PRDM16):c.2755G>T (p.Gly919Cys)
|
|
|
|
NM_022114.4(PRDM16):c.2761T>C (p.Ser921Pro)
|
|
|
|
NM_022114.4(PRDM16):c.2769G>T (p.Gln923His)
|
rs771212094
|
|
|
NM_022114.4(PRDM16):c.2780A>C (p.His927Pro)
|
rs763577669
|
|
|
NM_022114.4(PRDM16):c.2798G>A (p.Arg933Gln)
|
rs572092688
|
|
|
NM_022114.4(PRDM16):c.2802_2804del (p.Pro937del)
|
|
|
|
NM_022114.4(PRDM16):c.2809C>A (p.Pro937Thr)
|
rs374972823
|
|
|
NM_022114.4(PRDM16):c.2809C>G (p.Pro937Ala)
|
rs374972823
|
|
|
NM_022114.4(PRDM16):c.2810C>T (p.Pro937Leu)
|
|
|
|
NM_022114.4(PRDM16):c.2821G>A (p.Asp941Asn)
|
|
|
|
NM_022114.4(PRDM16):c.2835G>T (p.Arg945Ser)
|
rs2100676273
|
|
|
NM_022114.4(PRDM16):c.2848C>T (p.Arg950Ter)
|
|
|
|
NM_022114.4(PRDM16):c.2849G>A (p.Arg950Gln)
|
rs755741214
|
|
|
NM_022114.4(PRDM16):c.2849G>C (p.Arg950Pro)
|
rs755741214
|
|
|
NM_022114.4(PRDM16):c.284G>T (p.Gly95Val)
|
|
|
|
NM_022114.4(PRDM16):c.2854A>C (p.Thr952Pro)
|
|
|
|
NM_022114.4(PRDM16):c.2855C>A (p.Thr952Lys)
|
rs749180764
|
|
|
NM_022114.4(PRDM16):c.2855C>T (p.Thr952Met)
|
rs749180764
|
|
|
NM_022114.4(PRDM16):c.2870G>A (p.Gly957Glu)
|
|
|
|
NM_022114.4(PRDM16):c.2885G>C (p.Arg962Thr)
|
|
|
|
NM_022114.4(PRDM16):c.2894A>G (p.Asn965Ser)
|
rs2100677668
|
|
|
NM_022114.4(PRDM16):c.2905C>T (p.His969Tyr)
|
rs1638341252
|
|
|
NM_022114.4(PRDM16):c.2940-3C>T
|
|
|
|
NM_022114.4(PRDM16):c.2975C>T (p.Ser992Leu)
|
|
|
|
NM_022114.4(PRDM16):c.2976G>C (p.Ser992=)
|
|
|
|
NM_022114.4(PRDM16):c.2987G>A (p.Arg996Gln)
|
|
|
|
NM_022114.4(PRDM16):c.2996G>A (p.Arg999Gln)
|
|
|
|
NM_022114.4(PRDM16):c.3012G>T (p.Lys1004Asn)
|
rs2100692336
|
|
|
NM_022114.4(PRDM16):c.3026A>G (p.Lys1009Arg)
|
rs755243341
|
|
|
NM_022114.4(PRDM16):c.3068T>G (p.Leu1023Arg)
|
rs1638583779
|
|
|
NM_022114.4(PRDM16):c.3103G>T (p.Ala1035Ser)
|
rs765394108
|
|
|
NM_022114.4(PRDM16):c.3109+1G>C
|
rs2100692478
|
|
|
NM_022114.4(PRDM16):c.310A>C (p.Met104Leu)
|
|
|
|
NM_022114.4(PRDM16):c.3110T>C (p.Val1037Ala)
|
rs961514818
|
|
|
NM_022114.4(PRDM16):c.3137A>G (p.Asn1046Ser)
|
rs976929581
|
|
|
NM_022114.4(PRDM16):c.3141C>A (p.His1047Gln)
|
|
|
|
NM_022114.4(PRDM16):c.3143T>C (p.Leu1048Pro)
|
rs1347443850
|
|
|
NM_022114.4(PRDM16):c.3201G>C (p.Glu1067Asp)
|
|
|
|
NM_022114.4(PRDM16):c.3212C>A (p.Ser1071Tyr)
|
rs751178142
|
|
|
NM_022114.4(PRDM16):c.3245A>G (p.Asn1082Ser)
|
|
|
|
NM_022114.4(PRDM16):c.3253A>G (p.Met1085Val)
|
|
|
|
NM_022114.4(PRDM16):c.3266C>T (p.Ser1089Leu)
|
rs2100693452
|
|
|
NM_022114.4(PRDM16):c.3280A>G (p.Lys1094Glu)
|
|
|
|
NM_022114.4(PRDM16):c.3293T>C (p.Met1098Thr)
|
rs1319675512
|
|
|
NM_022114.4(PRDM16):c.3313G>A (p.Ala1105Thr)
|
|
|
|
NM_022114.4(PRDM16):c.3326G>A (p.Gly1109Asp)
|
|
|
|
NM_022114.4(PRDM16):c.3348G>C (p.Glu1116Asp)
|
|
|
|
NM_022114.4(PRDM16):c.3354GGA[3] (p.Glu1121del)
|
rs779426991
|
|
|
NM_022114.4(PRDM16):c.3354GGA[5] (p.Glu1121_Asp1122insGlu)
|
|
|
|
NM_022114.4(PRDM16):c.3361G>A (p.Glu1121Lys)
|
|
|
|
NM_022114.4(PRDM16):c.3363_3386del (p.Glu1121_Glu1128del)
|
|
|
|
NM_022114.4(PRDM16):c.3365A>G (p.Asp1122Gly)
|
rs1197356969
|
|
|
NM_022114.4(PRDM16):c.3366C>G (p.Asp1122Glu)
|
rs370195954
|
|
|
NM_022114.4(PRDM16):c.3369_3389del (p.Asp1124_Asp1130del)
|
rs753254261
|
|
|
NM_022114.4(PRDM16):c.3375_3392del (p.Asp1125_Asp1130del)
|
rs1553180122
|
|
|
NM_022114.4(PRDM16):c.3379G>A (p.Glu1127Lys)
|
rs746661891
|
|
|
NM_022114.4(PRDM16):c.3413C>T (p.Ser1138Leu)
|
|
|
|
NM_022114.4(PRDM16):c.3424A>G (p.Thr1142Ala)
|
rs1553180139
|
|
|
NM_022114.4(PRDM16):c.3475GAG[1] (p.Glu1160del)
|
rs747338094
|
|
|
NM_022114.4(PRDM16):c.3487G>A (p.Ala1163Thr)
|
rs747460948
|
|
|
NM_022114.4(PRDM16):c.3491C>T (p.Ser1164Phe)
|
rs2100702296
|
|
|
NM_022114.4(PRDM16):c.3518G>A (p.Arg1173Gln)
|
|
|
|
NM_022114.4(PRDM16):c.3522-14G>A
|
|
|
|
NM_022114.4(PRDM16):c.3522G>A (p.Arg1174=)
|
|
|
|
NM_022114.4(PRDM16):c.3524G>A (p.Cys1175Tyr)
|
|
|
|
NM_022114.4(PRDM16):c.352C>T (p.Arg118Trp)
|
|
|
|
NM_022114.4(PRDM16):c.3536A>G (p.His1179Arg)
|
|
|
|
NM_022114.4(PRDM16):c.3542G>T (p.Gly1181Val)
|
rs1638781354
|
|
|
NM_022114.4(PRDM16):c.3563C>A (p.Pro1188Gln)
|
rs572604983
|
|
|
NM_022114.4(PRDM16):c.3578G>A (p.Gly1193Glu)
|
rs1638782306
|
|
|
NM_022114.4(PRDM16):c.3590A>G (p.Asp1197Gly)
|
rs1426727129
|
|
|
NM_022114.4(PRDM16):c.3616T>C (p.Phe1206Leu)
|
|
|
|
NM_022114.4(PRDM16):c.3622G>T (p.Val1208Phe)
|
|
|
|
NM_022114.4(PRDM16):c.3623T>C (p.Val1208Ala)
|
|
|
|
NM_022114.4(PRDM16):c.3627_3629del (p.Lys1209_Asp1210delinsAsn)
|
rs1290106818
|
|
|
NM_022114.4(PRDM16):c.3659C>G (p.Ala1220Gly)
|
|
|
|
NM_022114.4(PRDM16):c.3676T>C (p.Cys1226Arg)
|
|
|
|
NM_022114.4(PRDM16):c.3680G>A (p.Arg1227Lys)
|
|
|
|
NM_022114.4(PRDM16):c.3696+3A>G
|
|
|
|
NM_022114.4(PRDM16):c.3697-2A>G
|
|
|
|
NM_022114.4(PRDM16):c.3703G>A (p.Ala1235Thr)
|
|
|
|
NM_022114.4(PRDM16):c.3743C>A (p.Thr1248Asn)
|
rs759077270
|
|
|
NM_022114.4(PRDM16):c.3746C>G (p.Pro1249Arg)
|
rs764863295
|
|
|
NM_022114.4(PRDM16):c.3748T>A (p.Ser1250Thr)
|
rs1553180663
|
|
|
NM_022114.4(PRDM16):c.3766G>T (p.Ala1256Ser)
|
rs750388478
|
|
|
NM_022114.4(PRDM16):c.3791C>T (p.Thr1264Met)
|
|
|
|
NM_022114.4(PRDM16):c.3812A>G (p.His1271Arg)
|
rs1638837669
|
|
|
NM_022114.4(PRDM16):c.387+3G>A
|
rs2100798319
|
|
|
NM_022114.4(PRDM16):c.387+6C>A
|
rs369010644
|
|
|
NM_022114.4(PRDM16):c.388-2A>G
|
|
|
|
NM_022114.4(PRDM16):c.390A>G (p.Gln130=)
|
rs1191137350
|
|
|
NM_022114.4(PRDM16):c.395T>C (p.Leu132Pro)
|
rs1639733506
|
|
|
NM_022114.4(PRDM16):c.409G>A (p.Val137Met)
|
|
|
|
NM_022114.4(PRDM16):c.410T>A (p.Val137Glu)
|
rs1161500379
|
|
|
NM_022114.4(PRDM16):c.416C>A (p.Pro139His)
|
|
|
|
NM_022114.4(PRDM16):c.431T>A (p.Ile144Asn)
|
rs757284038
|
|
|
NM_022114.4(PRDM16):c.449A>G (p.Asp150Gly)
|
rs2100606154
|
|
|
NM_022114.4(PRDM16):c.460G>A (p.Glu154Lys)
|
rs2100606163
|
|
|
NM_022114.4(PRDM16):c.469T>A (p.Cys157Ser)
|
rs2100606178
|
|
|
NM_022114.4(PRDM16):c.470G>C (p.Cys157Ser)
|
rs1306661340
|
|
|
NM_022114.4(PRDM16):c.481A>C (p.Asn161His)
|
|
|
|
NM_022114.4(PRDM16):c.481A>T (p.Asn161Tyr)
|
rs374664141
|
|
|
NM_022114.4(PRDM16):c.493G>T (p.Ala165Ser)
|
rs561382082
|
|
|
NM_022114.4(PRDM16):c.497G>A (p.Gly166Asp)
|
|
|
|
NM_022114.4(PRDM16):c.49G>T (p.Val17Phe)
|
rs183153140
|
|
|
NM_022114.4(PRDM16):c.516C>G (p.Ile172Met)
|
|
|
|
NM_022114.4(PRDM16):c.51_53del (p.Val18del)
|
rs752491979
|
|
|
NM_022114.4(PRDM16):c.523G>A (p.Ala175Thr)
|
|
|
|
NM_022114.4(PRDM16):c.532T>C (p.Cys178Arg)
|
|
|
|
NM_022114.4(PRDM16):c.535G>A (p.Asp179Asn)
|
rs929298724
|
|
|
NM_022114.4(PRDM16):c.538G>T (p.Asp180Tyr)
|
|
|
|
NM_022114.4(PRDM16):c.579C>G (p.Tyr193Ter)
|
rs2100630391
|
|
|
NM_022114.4(PRDM16):c.583A>G (p.Lys195Glu)
|
|
|
|
NM_022114.4(PRDM16):c.590T>G (p.Ile197Ser)
|
rs2100630398
|
|
|
NM_022114.4(PRDM16):c.595G>A (p.Asp199Asn)
|
|
|
|
NM_022114.4(PRDM16):c.5G>A (p.Arg2Gln)
|
rs2100451649
|
|
|
NM_022114.4(PRDM16):c.646C>T (p.Pro216Ser)
|
|
|
|
NM_022114.4(PRDM16):c.649dup (p.Leu217fs)
|
rs1643389176
|
|
|
NM_022114.4(PRDM16):c.658G>A (p.Val220Met)
|
rs746597198
|
|
|
NM_022114.4(PRDM16):c.682C>G (p.Pro228Ala)
|
rs1182820916
|
|
|
NM_022114.4(PRDM16):c.692G>A (p.Arg231His)
|
|
|
|
NM_022114.4(PRDM16):c.700G>T (p.Glu234Ter)
|
|
|
|
NM_022114.4(PRDM16):c.707A>T (p.Asp236Val)
|
|
|
|
NM_022114.4(PRDM16):c.709G>A (p.Glu237Lys)
|
rs764674939
|
|
|
NM_022114.4(PRDM16):c.720G>T (p.Gln240His)
|
|
|
|
NM_022114.4(PRDM16):c.769G>C (p.Gly257Arg)
|
|
|
|
NM_022114.4(PRDM16):c.778C>T (p.Leu260Phe)
|
rs762328436
|
|
|
NM_022114.4(PRDM16):c.784G>A (p.Glu262Lys)
|
|
|
|
NM_022114.4(PRDM16):c.793G>T (p.Ala265Ser)
|
rs1553174330
|
|
|
NM_022114.4(PRDM16):c.794C>T (p.Ala265Val)
|
rs2100642494
|
|
|
NM_022114.4(PRDM16):c.811_841del (p.Glu271fs)
|
rs2100642510
|
|
|
NM_022114.4(PRDM16):c.817C>T (p.Leu273Phe)
|
|
|
|
NM_022114.4(PRDM16):c.833G>T (p.Gly278Val)
|
|
|
|
NM_022114.4(PRDM16):c.843C>G (p.His281Gln)
|
rs201199516
|
|
|
NM_022114.4(PRDM16):c.863G>C (p.Arg288Pro)
|
rs141374404
|
|
|
NM_022114.4(PRDM16):c.880T>C (p.Tyr294His)
|
rs2100642694
|
|
|
NM_022114.4(PRDM16):c.884G>A (p.Ser295Asn)
|
|
|
|
NM_022114.4(PRDM16):c.885C>T (p.Ser295=)
|
|
|
|
NM_022114.4(PRDM16):c.904A>G (p.Ile302Val)
|
rs1553174650
|
|
|
NM_022114.4(PRDM16):c.91A>G (p.Ser31Gly)
|
rs1569798407
|
|
|
NM_022114.4(PRDM16):c.920G>A (p.Arg307His)
|
|
|
|
NM_022114.4(PRDM16):c.922G>A (p.Glu308Lys)
|
rs1643531752
|
|
|
NM_022114.4(PRDM16):c.931T>C (p.Cys311Arg)
|
|
|
|
NM_022114.4(PRDM16):c.934G>T (p.Asp312Tyr)
|
rs191798831
|
|
|
NM_022114.4(PRDM16):c.93C>G (p.Ser31Arg)
|
rs750535149
|
|
|
NM_022114.4(PRDM16):c.966del (p.Asn323fs)
|
|
|
|
NM_022114.4(PRDM16):c.994G>T (p.Asp332Tyr)
|
rs372445366
|
|
|
NM_022114.4(PRDM16):c.997A>G (p.Ser333Gly)
|
|
|
|
NM_022455.5(NSD1):c.3556_3557delinsAT (p.Ala1186Ile)
|
rs797044760
|
|
|
NM_022455.5(NSD1):c.5146+2dup
|
rs1581468671
|
|
|
NM_024334.3(TMEM43):c.1000+3A>G
|
rs1695218964
|
|
|
NM_024334.3(TMEM43):c.1001dup (p.Asp335fs)
|
|
|
|
NM_024334.3(TMEM43):c.1004A>G (p.Asp335Gly)
|
rs1553603641
|
|
|
NM_024334.3(TMEM43):c.100G>A (p.Gly34Ser)
|
rs1376541965
|
|
|
NM_024334.3(TMEM43):c.1013C>T (p.Pro338Leu)
|
rs17856369
|
|
|
NM_024334.3(TMEM43):c.1015G>A (p.Val339Ile)
|
|
|
|
NM_024334.3(TMEM43):c.1019T>C (p.Phe340Ser)
|
rs1559363663
|
|
|
NM_024334.3(TMEM43):c.1028T>A (p.Leu343Gln)
|
|
|
|
NM_024334.3(TMEM43):c.1028T>C (p.Leu343Pro)
|
|
|
|
NM_024334.3(TMEM43):c.1034A>G (p.Asn345Ser)
|
rs758981622
|
|
|
NM_024334.3(TMEM43):c.1036A>G (p.Ile346Val)
|
rs2124997196
|
|
|
NM_024334.3(TMEM43):c.1042C>G (p.Leu348Val)
|
rs769793469
|
|
|
NM_024334.3(TMEM43):c.1061G>T (p.Cys354Phe)
|
rs187262922
|
|
|
NM_024334.3(TMEM43):c.106A>G (p.Met36Val)
|
|
|
|
NM_024334.3(TMEM43):c.1079C>T (p.Thr360Ile)
|
rs1181935816
|
|
|
NM_024334.3(TMEM43):c.107T>A (p.Met36Lys)
|
rs1695064880
|
|
|
NM_024334.3(TMEM43):c.1090G>C (p.Val364Leu)
|
rs754236206
|
|
|
NM_024334.3(TMEM43):c.1094C>T (p.Ala365Val)
|
rs1052317732
|
|
|
NM_024334.3(TMEM43):c.1097C>T (p.Ala366Val)
|
|
|
|
NM_024334.3(TMEM43):c.1100G>A (p.Gly367Asp)
|
rs794729179
|
|
|
NM_024334.3(TMEM43):c.110T>G (p.Phe37Cys)
|
rs1695064977
|
|
|
NM_024334.3(TMEM43):c.1110C>G (p.Phe370Leu)
|
|
|
|
NM_024334.3(TMEM43):c.1112A>C (p.Tyr371Ser)
|
rs752269639
|
|
|
NM_024334.3(TMEM43):c.1117C>A (p.Pro373Thr)
|
rs770871762
|
|
|
NM_024334.3(TMEM43):c.1121T>C (p.Leu374Pro)
|
rs2124997342
|
|
|
NM_024334.3(TMEM43):c.1127C>A (p.Ala376Asp)
|
|
|
|
NM_024334.3(TMEM43):c.1129C>T (p.Leu377Phe)
|
|
|
|
NM_024334.3(TMEM43):c.112G>A (p.Val38Met)
|
rs977468112
|
|
|
NM_024334.3(TMEM43):c.1139C>G (p.Ala380Gly)
|
|
|
|
NM_024334.3(TMEM43):c.113T>A (p.Val38Glu)
|
rs1695065091
|
|
|
NM_024334.3(TMEM43):c.1150C>G (p.Leu384Val)
|
rs193922706
|
|
|
NM_024334.3(TMEM43):c.1150C>T (p.Leu384Phe)
|
rs193922706
|
|
|
NM_024334.3(TMEM43):c.1153G>A (p.Val385Met)
|
|
|
|
NM_024334.3(TMEM43):c.1156C>T (p.Pro386Ser)
|
rs1430520295
|
|
|
NM_024334.3(TMEM43):c.1159A>G (p.Ile387Val)
|
rs541565919
|
|
|
NM_024334.3(TMEM43):c.1165G>A (p.Val389Ile)
|
|
|
|
NM_024334.3(TMEM43):c.1165G>T (p.Val389Phe)
|
rs1308027129
|
|
|
NM_024334.3(TMEM43):c.1171C>T (p.Arg391Trp)
|
rs1574942204
|
|
|
NM_024334.3(TMEM43):c.1172_1184del (p.Arg391fs)
|
rs2124997454
|
|
|
NM_024334.3(TMEM43):c.1196T>G (p.Leu399Trp)
|
rs1559363776
|
|
|
NM_024334.3(TMEM43):c.1198G>T (p.Glu400Ter)
|
rs1252529536
|
|
|
NM_024334.3(TMEM43):c.11A>T (p.Asn4Ile)
|
|
|
|
NM_024334.3(TMEM43):c.12+2T>C
|
|
|
|
NM_024334.3(TMEM43):c.12+4A>C
|
rs2124981822
|
|
|
NM_024334.3(TMEM43):c.124G>T (p.Ala42Ser)
|
rs2124985701
|
|
|
NM_024334.3(TMEM43):c.13-2A>C
|
|
|
|
NM_024334.3(TMEM43):c.13-3C>T
|
|
|
|
NM_024334.3(TMEM43):c.136T>A (p.Ser46Thr)
|
rs145510310
|
|
|
NM_024334.3(TMEM43):c.140_142del (p.Phe47del)
|
|
|
|
NM_024334.3(TMEM43):c.143A>C (p.Tyr48Ser)
|
rs1553602871
|
|
|
NM_024334.3(TMEM43):c.14A>G (p.Tyr5Cys)
|
|
|
|
NM_024334.3(TMEM43):c.162+1G>A
|
rs1695065907
|
|
|
NM_024334.3(TMEM43):c.162G>C (p.Glu54Asp)
|
rs746126153
|
|
|
NM_024334.3(TMEM43):c.169G>T (p.Ala57Ser)
|
rs151010429
|
|
|
NM_024334.3(TMEM43):c.178A>G (p.Thr60Ala)
|
rs1695084121
|
|
|
NM_024334.3(TMEM43):c.193G>A (p.Ala65Thr)
|
rs1695084511
|
|
|
NM_024334.3(TMEM43):c.200G>T (p.Gly67Val)
|
rs766792876
|
|
|
NM_024334.3(TMEM43):c.203T>C (p.Leu68Pro)
|
rs1553602940
|
|
|
NM_024334.3(TMEM43):c.218C>G (p.Ser73Cys)
|
rs200652985
|
|
|
NM_024334.3(TMEM43):c.21T>G (p.Ser7Arg)
|
rs371236613
|
|
|
NM_024334.3(TMEM43):c.235A>C (p.Ser79Arg)
|
rs930770110
|
|
|
NM_024334.3(TMEM43):c.236del (p.Ser79fs)
|
|
|
|
NM_024334.3(TMEM43):c.241G>A (p.Ala81Thr)
|
rs1695085843
|
|
|
NM_024334.3(TMEM43):c.241del (p.Ala81fs)
|
|
|
|
NM_024334.3(TMEM43):c.257G>A (p.Gly86Glu)
|
rs771454768
|
|
|
NM_024334.3(TMEM43):c.281C>T (p.Ala94Val)
|
|
|
|
NM_024334.3(TMEM43):c.286C>T (p.Arg96Trp)
|
|
|
|
NM_024334.3(TMEM43):c.287G>A (p.Arg96Gln)
|
rs748343919
|
|
|
NM_024334.3(TMEM43):c.287G>C (p.Arg96Pro)
|
rs748343919
|
|
|
NM_024334.3(TMEM43):c.289A>T (p.Thr97Ser)
|
rs1695087564
|
|
|
NM_024334.3(TMEM43):c.295A>G (p.Lys99Glu)
|
|
|
|
NM_024334.3(TMEM43):c.296A>G (p.Lys99Arg)
|
rs199943048
|
|
|
NM_024334.3(TMEM43):c.298-5T>A
|
rs1027914711
|
|
|
NM_024334.3(TMEM43):c.305C>G (p.Ser102Cys)
|
|
|
|
NM_024334.3(TMEM43):c.313A>G (p.Asn105Asp)
|
|
|
|
NM_024334.3(TMEM43):c.322G>T (p.Val108Phe)
|
|
|
|
NM_024334.3(TMEM43):c.326A>G (p.His109Arg)
|
rs1398278496
|
|
|
NM_024334.3(TMEM43):c.329_330del (p.Leu110fs)
|
rs2124987821
|
|
|
NM_024334.3(TMEM43):c.331C>G (p.Pro111Ala)
|
rs2124987826
|
|
|
NM_024334.3(TMEM43):c.332C>A (p.Pro111Gln)
|
rs765816901
|
|
|
NM_024334.3(TMEM43):c.332C>T (p.Pro111Leu)
|
|
|
|
NM_024334.3(TMEM43):c.337G>A (p.Val113Met)
|
rs572474708
|
|
|
NM_024334.3(TMEM43):c.348del (p.Arg117fs)
|
rs2124987856
|
|
|
NM_024334.3(TMEM43):c.351dup (p.His118fs)
|
|
|
|
NM_024334.3(TMEM43):c.352C>T (p.His118Tyr)
|
|
|
|
NM_024334.3(TMEM43):c.362T>C (p.Met121Thr)
|
rs1286177938
|
|
|
NM_024334.3(TMEM43):c.362T>G (p.Met121Arg)
|
rs1286177938
|
|
|
NM_024334.3(TMEM43):c.363G>A (p.Met121Ile)
|
rs1695097590
|
|
|
NM_024334.3(TMEM43):c.369A>G (p.Gln123=)
|
rs2124987912
|
|
|
NM_024334.3(TMEM43):c.371G>A (p.Trp124Ter)
|
rs2124987915
|
|
|
NM_024334.3(TMEM43):c.384G>C (p.Glu128Asp)
|
|
|
|
NM_024334.3(TMEM43):c.391A>C (p.Arg131=)
|
rs2124987934
|
|
|
NM_024334.3(TMEM43):c.392+4A>G
|
rs397517382
|
|
|
NM_024334.3(TMEM43):c.393G>A (p.Arg131=)
|
rs1695110759
|
|
|
NM_024334.3(TMEM43):c.394G>A (p.Glu132Lys)
|
|
|
|
NM_024334.3(TMEM43):c.394G>T (p.Glu132Ter)
|
rs1315939046
|
|
|
NM_024334.3(TMEM43):c.395A>C (p.Glu132Ala)
|
|
|
|
NM_024334.3(TMEM43):c.396G>C (p.Glu132Asp)
|
rs1553603024
|
|
|
NM_024334.3(TMEM43):c.396G>T (p.Glu132Asp)
|
rs1553603024
|
|
|
NM_024334.3(TMEM43):c.40C>T (p.His14Tyr)
|
|
|
|
NM_024334.3(TMEM43):c.418AAG[1] (p.Lys141del)
|
rs746639451
|
|
|
NM_024334.3(TMEM43):c.421A>G (p.Lys141Glu)
|
|
|
|
NM_024334.3(TMEM43):c.424G>C (p.Glu142Gln)
|
rs145619906
|
|
|
NM_024334.3(TMEM43):c.443-13T>G
|
|
|
|
NM_024334.3(TMEM43):c.443-2A>T
|
|
|
|
NM_024334.3(TMEM43):c.443A>G (p.Asn148Ser)
|
rs1046932119
|
|
|
NM_024334.3(TMEM43):c.446C>T (p.Thr149Ile)
|
rs1695115690
|
|
|
NM_024334.3(TMEM43):c.458C>T (p.Ser153Leu)
|
rs1369869806
|
|
|
NM_024334.3(TMEM43):c.464TCA[1] (p.Ile156del)
|
rs1574938257
|
|
|
NM_024334.3(TMEM43):c.473G>A (p.Ser158Asn)
|
rs1695116123
|
|
|
NM_024334.3(TMEM43):c.47A>G (p.Lys16Arg)
|
rs770619613
|
|
|
NM_024334.3(TMEM43):c.482del (p.Phe161fs)
|
rs769722980
|
|
|
NM_024334.3(TMEM43):c.485A>G (p.Asp162Gly)
|
rs1312639832
|
|
|
NM_024334.3(TMEM43):c.488G>A (p.Arg163Gln)
|
rs759676847
|
|
|
NM_024334.3(TMEM43):c.492G>C (p.Glu164Asp)
|
rs949064136
|
|
|
NM_024334.3(TMEM43):c.497G>T (p.Gly166Val)
|
|
|
|
NM_024334.3(TMEM43):c.499C>G (p.His167Asp)
|
rs1553603052
|
|
|
NM_024334.3(TMEM43):c.4G>C (p.Ala2Pro)
|
rs1695000807
|
|
|
NM_024334.3(TMEM43):c.502A>G (p.Lys168Glu)
|
|
|
|
NM_024334.3(TMEM43):c.511A>G (p.Ser171Gly)
|
|
|
|
NM_024334.3(TMEM43):c.511A>T (p.Ser171Cys)
|
rs2124989219
|
|
|
NM_024334.3(TMEM43):c.544G>A (p.Ala182Thr)
|
rs757013233
|
|
|
NM_024334.3(TMEM43):c.545C>T (p.Ala182Val)
|
rs1394010451
|
|
|
NM_024334.3(TMEM43):c.548C>T (p.Pro183Leu)
|
rs746116143
|
|
|
NM_024334.3(TMEM43):c.548_559del (p.Pro183_Ile187delinsLeu)
|
|
|
|
NM_024334.3(TMEM43):c.556C>T (p.Gln186Ter)
|
rs1553603107
|
|
|
NM_024334.3(TMEM43):c.55del (p.Thr19fs)
|
|
|
|
NM_024334.3(TMEM43):c.568T>A (p.Phe190Ile)
|
rs768718054
|
|
|
NM_024334.3(TMEM43):c.583+4A>G
|
rs1574938748
|
|
|
NM_024334.3(TMEM43):c.583+5G>A
|
|
|
|
NM_024334.3(TMEM43):c.584G>C (p.Gly195Ala)
|
rs1458517961
|
|
|
NM_024334.3(TMEM43):c.584G>T (p.Gly195Val)
|
|
|
|
NM_024334.3(TMEM43):c.599T>C (p.Val200Ala)
|
rs2124990795
|
|
|
NM_024334.3(TMEM43):c.59G>A (p.Ser20Asn)
|
|
|
|
NM_024334.3(TMEM43):c.59G>C (p.Ser20Thr)
|
rs1261978753
|
|
|
NM_024334.3(TMEM43):c.605A>T (p.Asn202Ile)
|
rs958959766
|
|
|
NM_024334.3(TMEM43):c.611A>G (p.Lys204Arg)
|
rs568657650
|
|
|
NM_024334.3(TMEM43):c.614C>T (p.Ser205Phe)
|
rs769787683
|
|
|
NM_024334.3(TMEM43):c.62C>G (p.Ser21Cys)
|
|
|
|
NM_024334.3(TMEM43):c.631C>G (p.Leu211Val)
|
rs1209223184
|
|
|
NM_024334.3(TMEM43):c.634G>C (p.Glu212Gln)
|
|
|
|
NM_024334.3(TMEM43):c.640C>G (p.Pro214Ala)
|
rs1574939150
|
|
|
NM_024334.3(TMEM43):c.644A>T (p.His215Leu)
|
rs730880225
|
|
|
NM_024334.3(TMEM43):c.645T>G (p.His215Gln)
|
rs370782259
|
|
|
NM_024334.3(TMEM43):c.646G>T (p.Val216Leu)
|
rs143735210
|
|
|
NM_024334.3(TMEM43):c.652A>G (p.Ile218Val)
|
|
|
|
NM_024334.3(TMEM43):c.65A>G (p.Gln22Arg)
|
|
|
|
NM_024334.3(TMEM43):c.662G>T (p.Arg221Leu)
|
|
|
|
NM_024334.3(TMEM43):c.667G>T (p.Asp223Tyr)
|
|
|
|
NM_024334.3(TMEM43):c.668A>T (p.Asp223Val)
|
|
|
|
NM_024334.3(TMEM43):c.66_67insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAACCAGCTCCCAG (p.Pro23delinsAlaGlyArgGlyGlySerArgLeuTer)
|
|
|
|
NM_024334.3(TMEM43):c.670T>C (p.Phe224Leu)
|
rs1695146244
|
|
|
NM_024334.3(TMEM43):c.674del (p.Phe225fs)
|
rs1559361774
|
|
|
NM_024334.3(TMEM43):c.675C>G (p.Phe225Leu)
|
rs1559361776
|
|
|
NM_024334.3(TMEM43):c.679C>T (p.His227Tyr)
|
rs201460674
|
|
|
NM_024334.3(TMEM43):c.685G>A (p.Glu229Lys)
|
rs1304261093
|
|
|
NM_024334.3(TMEM43):c.696G>C (p.Lys232Asn)
|
|
|
|
NM_024334.3(TMEM43):c.699T>A (p.Tyr233Ter)
|
rs1321317891
|
|
|
NM_024334.3(TMEM43):c.699T>C (p.Tyr233=)
|
|
|
|
NM_024334.3(TMEM43):c.703G>A (p.Glu235Lys)
|
rs1574939228
|
|
|
NM_024334.3(TMEM43):c.704A>G (p.Glu235Gly)
|
rs751419150
|
|
|
NM_024334.3(TMEM43):c.706-1G>A
|
rs764377071
|
|
|
NM_024334.3(TMEM43):c.706-1G>T
|
|
|
|
NM_024334.3(TMEM43):c.706-3C>A
|
|
|
|
NM_024334.3(TMEM43):c.710G>A (p.Gly237Glu)
|
|
|
|
NM_024334.3(TMEM43):c.712G>A (p.Asp238Asn)
|
rs2124991270
|
|
|
NM_024334.3(TMEM43):c.718C>G (p.Arg240Gly)
|
rs367910936
|
|
|
NM_024334.3(TMEM43):c.725C>G (p.Ser242Cys)
|
|
|
|
NM_024334.3(TMEM43):c.743T>C (p.Leu248Pro)
|
rs774356401
|
|
|
NM_024334.3(TMEM43):c.749dup (p.Asp251fs)
|
rs1695151947
|
|
|
NM_024334.3(TMEM43):c.760_780+2dup
|
rs1559361931
|
|
|
NM_024334.3(TMEM43):c.764T>C (p.Leu255Pro)
|
rs1343395046
|
|
|
NM_024334.3(TMEM43):c.767G>A (p.Gly256Asp)
|
rs2124991379
|
|
|
NM_024334.3(TMEM43):c.778G>T (p.Val260Leu)
|
|
|
|
NM_024334.3(TMEM43):c.77T>C (p.Leu26Pro)
|
rs2124985579
|
|
|
NM_024334.3(TMEM43):c.780+5C>A
|
|
|
|
NM_024334.3(TMEM43):c.781-7T>A
|
|
|
|
NM_024334.3(TMEM43):c.788_789del (p.Val263fs)
|
rs1489814713
|
|
|
NM_024334.3(TMEM43):c.7G>A (p.Ala3Thr)
|
|
|
|
NM_024334.3(TMEM43):c.803G>A (p.Arg268Gln)
|
rs769969149
|
|
|
NM_024334.3(TMEM43):c.809A>G (p.Asp270Gly)
|
rs1201367358
|
|
|
NM_024334.3(TMEM43):c.824T>G (p.Phe275Cys)
|
|
|
|
NM_024334.3(TMEM43):c.833A>G (p.Lys278Arg)
|
rs1427535931
|
|
|
NM_024334.3(TMEM43):c.834G>C (p.Lys278Asn)
|
|
|
|
NM_024334.3(TMEM43):c.83G>C (p.Arg28Pro)
|
rs757651177
|
|
|
NM_024334.3(TMEM43):c.841G>A (p.Asp281Asn)
|
|
|
|
NM_024334.3(TMEM43):c.844A>G (p.Thr282Ala)
|
|
|
|
NM_024334.3(TMEM43):c.850C>G (p.Leu284Val)
|
rs727504764
|
|
|
NM_024334.3(TMEM43):c.852_853delinsAA (p.Leu285Ile)
|
rs1695163023
|
|
|
NM_024334.3(TMEM43):c.861C>G (p.His287Gln)
|
rs886039048
|
|
|
NM_024334.3(TMEM43):c.862C>T (p.His288Tyr)
|
rs771028028
|
|
|
NM_024334.3(TMEM43):c.866G>A (p.Gly289Glu)
|
|
|
|
NM_024334.3(TMEM43):c.877G>A (p.Ala293Thr)
|
rs1060501357
|
|
|
NM_024334.3(TMEM43):c.878C>A (p.Ala293Glu)
|
rs1695163617
|
|
|
NM_024334.3(TMEM43):c.886G>A (p.Val296Met)
|
rs1695216015
|
|
|
NM_024334.3(TMEM43):c.887T>C (p.Val296Ala)
|
|
|
|
NM_024334.3(TMEM43):c.889T>A (p.Phe297Ile)
|
rs990243563
|
|
|
NM_024334.3(TMEM43):c.895dup (p.Arg299fs)
|
rs1695216412
|
|
|
NM_024334.3(TMEM43):c.898G>T (p.Glu300Ter)
|
rs746029667
|
|
|
NM_024334.3(TMEM43):c.905G>A (p.Arg302Lys)
|
rs539945827
|
|
|
NM_024334.3(TMEM43):c.908G>A (p.Ser303Asn)
|
|
|
|
NM_024334.3(TMEM43):c.914C>A (p.Ser305Tyr)
|
rs777277570
|
|
|
NM_024334.3(TMEM43):c.917_918delinsCT (p.Met306Thr)
|
rs1553603453
|
|
|
NM_024334.3(TMEM43):c.923C>T (p.Thr308Ile)
|
|
|
|
NM_024334.3(TMEM43):c.925T>C (p.Trp309Arg)
|
|
|
|
NM_024334.3(TMEM43):c.928G>T (p.Gly310Cys)
|
|
|
|
NM_024334.3(TMEM43):c.929del (p.Gly310fs)
|
rs2124995245
|
|
|
NM_024334.3(TMEM43):c.937G>A (p.Ala313Thr)
|
rs2124995269
|
|
|
NM_024334.3(TMEM43):c.944G>T (p.Gly315Val)
|
|
|
|
NM_024334.3(TMEM43):c.955A>G (p.Met319Val)
|
|
|
|
NM_024334.3(TMEM43):c.965G>T (p.Gly322Val)
|
rs1553603462
|
|
|
NM_024334.3(TMEM43):c.970A>G (p.Asn324Asp)
|
rs1365389365
|
|
|
NM_024334.3(TMEM43):c.971A>T (p.Asn324Ile)
|
|
|
|
NM_024334.3(TMEM43):c.971del (p.Asn324fs)
|
rs1553603465
|
|
|
NM_024334.3(TMEM43):c.985A>C (p.Ile329Leu)
|
rs1060501358
|
|
|
NM_024334.3(TMEM43):c.992A>G (p.Tyr331Cys)
|
|
|
|
NM_024334.3(TMEM43):c.99_120del (p.Gly34fs)
|
|
|
|
NM_024422.6(DSC2):c.1022G>T (p.Cys341Phe)
|
|
|
|
NM_024422.6(DSC2):c.1025T>A (p.Ile342Asn)
|
|
|
|
NM_024422.6(DSC2):c.1027A>G (p.Ile343Val)
|
rs1409325550
|
|
|
NM_024422.6(DSC2):c.1028T>C (p.Ile343Thr)
|
rs1567978329
|
|
|
NM_024422.6(DSC2):c.1054T>A (p.Leu352Met)
|
rs2144821150
|
|
|
NM_024422.6(DSC2):c.1058C>T (p.Pro353Leu)
|
rs1208688367
|
|
|
NM_024422.6(DSC2):c.1066A>T (p.Thr356Ser)
|
rs2144821078
|
|
|
NM_024422.6(DSC2):c.106A>G (p.Thr36Ala)
|
rs2144850401
|
|
|
NM_024422.6(DSC2):c.1072A>C (p.Thr358Pro)
|
|
|
|
NM_024422.6(DSC2):c.1073C>A (p.Thr358Asn)
|
rs139399951
|
|
|
NM_024422.6(DSC2):c.1078-6T>G
|
rs1555639038
|
|
|
NM_024422.6(DSC2):c.1095A>T (p.Glu365Asp)
|
|
|
|
NM_024422.6(DSC2):c.1102A>G (p.Thr368Ala)
|
rs1598583223
|
|
|
NM_024422.6(DSC2):c.1105G>A (p.Val369Ile)
|
|
|
|
NM_024422.6(DSC2):c.1111G>A (p.Val371Met)
|
rs1252791235
|
|
|
NM_024422.6(DSC2):c.1123C>G (p.Arg375Gly)
|
rs794728075
|
|
|
NM_024422.6(DSC2):c.1145A>T (p.Asp382Val)
|
|
|
|
NM_024422.6(DSC2):c.114T>A (p.His38Gln)
|
rs1987672342
|
|
|
NM_024422.6(DSC2):c.1177T>G (p.Tyr393Asp)
|
|
|
|
NM_024422.6(DSC2):c.118C>A (p.Pro40Thr)
|
|
|
|
NM_024422.6(DSC2):c.1192G>A (p.Gly398Ser)
|
rs1060502991
|
|
|
NM_024422.6(DSC2):c.1204G>T (p.Gly402Cys)
|
rs1598583039
|
|
|
NM_024422.6(DSC2):c.1205G>T (p.Gly402Val)
|
|
|
|
NM_024422.6(DSC2):c.1215A>T (p.Lys405Asn)
|
rs781472939
|
|
|
NM_024422.6(DSC2):c.1239T>A (p.Asn413Lys)
|
rs765511398
|
|
|
NM_024422.6(DSC2):c.1239T>G (p.Asn413Lys)
|
rs765511398
|
|
|
NM_024422.6(DSC2):c.1247T>C (p.Val416Ala)
|
|
|
|
NM_024422.6(DSC2):c.1255G>A (p.Val419Ile)
|
|
|
|
NM_024422.6(DSC2):c.1256T>C (p.Val419Ala)
|
|
|
|
NM_024422.6(DSC2):c.1263+2dup
|
rs1987243669
|
|
|
NM_024422.6(DSC2):c.1263+3_1263+4insG
|
rs1987243436
|
|
|
NM_024422.6(DSC2):c.1263+5G>T
|
|
|
|
NM_024422.6(DSC2):c.1264-11T>G
|
|
|
|
NM_024422.6(DSC2):c.1264C>T (p.Pro422Ser)
|
|
|
|
NM_024422.6(DSC2):c.1280A>G (p.Glu427Gly)
|
|
|
|
NM_024422.6(DSC2):c.1289A>G (p.Gln430Arg)
|
|
|
|
NM_024422.6(DSC2):c.128T>C (p.Leu43Pro)
|
|
|
|
NM_024422.6(DSC2):c.1290G>C (p.Gln430His)
|
rs191461349
|
|
|
NM_024422.6(DSC2):c.1296C>G (p.Ile432Met)
|
|
|
|
NM_024422.6(DSC2):c.1307G>T (p.Gly436Val)
|
rs763981974
|
|
|
NM_024422.6(DSC2):c.1312G>C (p.Val438Leu)
|
|
|
|
NM_024422.6(DSC2):c.1313T>C (p.Val438Ala)
|
|
|
|
NM_024422.6(DSC2):c.1316A>C (p.Asn439Thr)
|
|
|
|
NM_024422.6(DSC2):c.1321G>A (p.Ala441Thr)
|
rs2144814171
|
|
|
NM_024422.6(DSC2):c.1321_1329del (p.Ala441_Phe443del)
|
rs1987173347
|
|
|
NM_024422.6(DSC2):c.1324C>G (p.Pro442Ala)
|
|
|
|
NM_024422.6(DSC2):c.1324C>T (p.Pro442Ser)
|
rs201480399
|
|
|
NM_024422.6(DSC2):c.1340C>G (p.Ala447Gly)
|
|
|
|
NM_024422.6(DSC2):c.1341_1355del (p.Ser448_Ala452del)
|
rs1301674152
|
|
|
NM_024422.6(DSC2):c.1343G>A (p.Ser448Asn)
|
rs778959850
|
|
|
NM_024422.6(DSC2):c.1344T>A (p.Ser448Arg)
|
|
|
|
NM_024422.6(DSC2):c.1345C>G (p.Pro449Ala)
|
|
|
|
NM_024422.6(DSC2):c.1346C>G (p.Pro449Arg)
|
rs1394323673
|
|
|
NM_024422.6(DSC2):c.1350A>C (p.Arg450Ser)
|
rs144242114
|
|
|
NM_024422.6(DSC2):c.1352C>T (p.Ser451Leu)
|
rs794728068
|
|
|
NM_024422.6(DSC2):c.1358T>C (p.Met453Thr)
|
|
|
|
NM_024422.6(DSC2):c.1396G>C (p.Asp466His)
|
|
|
|
NM_024422.6(DSC2):c.1405C>T (p.Pro469Ser)
|
rs2144813745
|
|
|
NM_024422.6(DSC2):c.1418C>T (p.Pro473Leu)
|
rs1987166340
|
|
|
NM_024422.6(DSC2):c.1424T>C (p.Ile475Thr)
|
rs1022023137
|
|
|
NM_024422.6(DSC2):c.1427A>C (p.Gln476Pro)
|
|
|
|
NM_024422.6(DSC2):c.142C>G (p.Leu48Val)
|
rs769776739
|
|
|
NM_024422.6(DSC2):c.142C>T (p.Leu48Phe)
|
rs769776739
|
|
|
NM_024422.6(DSC2):c.1436G>A (p.Arg479His)
|
rs774641579
|
|
|
NM_024422.6(DSC2):c.1436G>T (p.Arg479Leu)
|
rs774641579
|
|
|
NM_024422.6(DSC2):c.1466C>T (p.Thr489Ile)
|
|
|
|
NM_024422.6(DSC2):c.1470C>G (p.Ser490Arg)
|
rs1237446574
|
|
|
NM_024422.6(DSC2):c.1475G>C (p.Gly492Ala)
|
|
|
|
NM_024422.6(DSC2):c.1477T>C (p.Tyr493His)
|
|
|
|
NM_024422.6(DSC2):c.1478A>G (p.Tyr493Cys)
|
rs1987162049
|
|
|
NM_024422.6(DSC2):c.1505G>T (p.Ser502Ile)
|
|
|
|
NM_024422.6(DSC2):c.1510A>G (p.Ser504Gly)
|
rs750965801
|
|
|
NM_024422.6(DSC2):c.1514G>A (p.Gly505Asp)
|
rs1987160435
|
|
|
NM_024422.6(DSC2):c.1520+4C>T
|
|
|
|
NM_024422.6(DSC2):c.1523A>G (p.Tyr508Cys)
|
rs1987155402
|
|
|
NM_024422.6(DSC2):c.1540C>G (p.Pro514Ala)
|
|
|
|
NM_024422.6(DSC2):c.1543A>G (p.Thr515Ala)
|
rs771406828
|
|
|
NM_024422.6(DSC2):c.1547G>C (p.Gly516Ala)
|
|
|
|
NM_024422.6(DSC2):c.154G>A (p.Val52Ile)
|
|
|
|
NM_024422.6(DSC2):c.1552G>A (p.Val518Ile)
|
rs397517394
|
|
|
NM_024422.6(DSC2):c.1556C>G (p.Thr519Ser)
|
|
|
|
NM_024422.6(DSC2):c.155T>A (p.Val52Asp)
|
|
|
|
NM_024422.6(DSC2):c.155T>C (p.Val52Ala)
|
rs1987629779
|
|
|
NM_024422.6(DSC2):c.1562A>C (p.Asp521Ala)
|
rs1987152292
|
|
|
NM_024422.6(DSC2):c.1565A>C (p.Glu522Ala)
|
|
|
|
NM_024422.6(DSC2):c.1571C>G (p.Thr524Arg)
|
|
|
|
NM_024422.6(DSC2):c.158A>T (p.Asn53Ile)
|
|
|
|
NM_024422.6(DSC2):c.1593A>C (p.Arg531Ser)
|
rs762973455
|
|
|
NM_024422.6(DSC2):c.1595G>A (p.Ser532Asn)
|
rs1987150000
|
|
|
NM_024422.6(DSC2):c.1600G>A (p.Asp534Asn)
|
rs1555638635
|
|
|
NM_024422.6(DSC2):c.1615A>G (p.Thr539Ala)
|
|
|
|
NM_024422.6(DSC2):c.1620C>G (p.Ile540Met)
|
rs765374888
|
|
|
NM_024422.6(DSC2):c.1658A>G (p.Asp553Gly)
|
|
|
|
NM_024422.6(DSC2):c.1661A>G (p.Gln554Arg)
|
rs1987145211
|
|
|
NM_024422.6(DSC2):c.1676G>A (p.Cys559Tyr)
|
rs773866217
|
|
|
NM_024422.6(DSC2):c.168G>C (p.Glu56Asp)
|
rs1555640202
|
|
|
NM_024422.6(DSC2):c.1694T>G (p.Ile565Ser)
|
rs1986963426
|
|
|
NM_024422.6(DSC2):c.16C>G (p.Pro6Ala)
|
|
|
|
NM_024422.6(DSC2):c.16C>T (p.Pro6Ser)
|
|
|
|
NM_024422.6(DSC2):c.1707C>A (p.Asp569Glu)
|
rs201517977
|
|
|
NM_024422.6(DSC2):c.1708G>A (p.Val570Met)
|
rs992887444
|
|
|
NM_024422.6(DSC2):c.1715A>T (p.Asp572Val)
|
rs1030017004
|
|
|
NM_024422.6(DSC2):c.1717A>G (p.Asn573Asp)
|
rs1057518818
|
|
|
NM_024422.6(DSC2):c.1730T>C (p.Ile577Thr)
|
rs2144800248
|
|
|
NM_024422.6(DSC2):c.1731A>G (p.Ile577Met)
|
rs2144800239
|
|
|
NM_024422.6(DSC2):c.1733C>T (p.Pro578Leu)
|
|
|
|
NM_024422.6(DSC2):c.1738A>G (p.Lys580Glu)
|
|
|
|
NM_024422.6(DSC2):c.173T>G (p.Phe58Cys)
|
|
|
|
NM_024422.6(DSC2):c.1741A>C (p.Thr581Pro)
|
rs1266547190
|
|
|
NM_024422.6(DSC2):c.1744G>A (p.Val582Met)
|
|
|
|
NM_024422.6(DSC2):c.1745T>C (p.Val582Ala)
|
rs1986959880
|
|
|
NM_024422.6(DSC2):c.1750A>T (p.Ile584Phe)
|
rs755041461
|
|
|
NM_024422.6(DSC2):c.1762A>T (p.Thr588Ser)
|
|
|
|
NM_024422.6(DSC2):c.1765A>G (p.Met589Val)
|
rs1442456553
|
|
|
NM_024422.6(DSC2):c.1766T>A (p.Met589Lys)
|
rs201856473
|
|
|
NM_024422.6(DSC2):c.1780A>C (p.Ile594Leu)
|
rs1365493039
|
|
|
NM_024422.6(DSC2):c.1780A>G (p.Ile594Val)
|
rs1365493039
|
|
|
NM_024422.6(DSC2):c.1786G>C (p.Ala596Pro)
|
|
|
|
NM_024422.6(DSC2):c.1795C>G (p.Pro599Ala)
|
|
|
|
NM_024422.6(DSC2):c.17C>T (p.Pro6Leu)
|
rs1378826078
|
|
|
NM_024422.6(DSC2):c.1811A>G (p.His604Arg)
|
|
|
|
NM_024422.6(DSC2):c.1812T>A (p.His604Gln)
|
rs781010501
|
|
|
NM_024422.6(DSC2):c.182C>G (p.Ala61Gly)
|
rs758707293
|
|
|
NM_024422.6(DSC2):c.182C>T (p.Ala61Val)
|
|
|
|
NM_024422.6(DSC2):c.1837G>C (p.Glu613Gln)
|
rs777716519
|
|
|
NM_024422.6(DSC2):c.1840A>G (p.Ser614Gly)
|
rs1986952876
|
|
|
NM_024422.6(DSC2):c.1846A>T (p.Thr616Ser)
|
rs753887142
|
|
|
NM_024422.6(DSC2):c.1852G>A (p.Glu618Lys)
|
|
|
|
NM_024422.6(DSC2):c.1867T>C (p.Trp623Arg)
|
|
|
|
NM_024422.6(DSC2):c.186T>A (p.Asn62Lys)
|
rs748644229
|
|
|
NM_024422.6(DSC2):c.1879G>A (p.Ala627Thr)
|
|
|
|
NM_024422.6(DSC2):c.1882A>G (p.Ile628Val)
|
rs1986950360
|
|
|
NM_024422.6(DSC2):c.1889A>T (p.Asp630Val)
|
|
|
|
NM_024422.6(DSC2):c.1892C>A (p.Thr631Lys)
|
|
|
|
NM_024422.6(DSC2):c.1892C>T (p.Thr631Ile)
|
|
|
|
NM_024422.6(DSC2):c.1907C>G (p.Ser636Cys)
|
rs764355417
|
|
|
NM_024422.6(DSC2):c.1918G>A (p.Asp640Asn)
|
rs267605146
|
|
|
NM_024422.6(DSC2):c.1934C>T (p.Ser645Leu)
|
rs1339580561
|
|
|
NM_024422.6(DSC2):c.1936T>A (p.Tyr646Asn)
|
|
|
|
NM_024422.6(DSC2):c.1939G>A (p.Val647Ile)
|
|
|
|
NM_024422.6(DSC2):c.193C>G (p.His65Asp)
|
rs2144846957
|
|
|
NM_024422.6(DSC2):c.1940T>C (p.Val647Ala)
|
rs1986843978
|
|
|
NM_024422.6(DSC2):c.1957A>G (p.Arg653Gly)
|
rs1598573489
|
|
|
NM_024422.6(DSC2):c.1960G>A (p.Asp654Asn)
|
rs1315556709
|
|
|
NM_024422.6(DSC2):c.1970G>T (p.Gly657Val)
|
rs1986842583
|
|
|
NM_024422.6(DSC2):c.1994A>G (p.Asp665Gly)
|
rs778236763
|
|
|
NM_024422.6(DSC2):c.19T>C (p.Ser7Pro)
|
rs774977340
|
|
|
NM_024422.6(DSC2):c.1A>G (p.Met1Val)
|
rs1026402319
|
|
|
NM_024422.6(DSC2):c.2012G>A (p.Cys671Tyr)
|
|
|
|
NM_024422.6(DSC2):c.2012_2013delinsCT (p.Cys671Ser)
|
rs869025387
|
|
|
NM_024422.6(DSC2):c.2014A>G (p.Ile672Val)
|
rs375842356
|
|
|
NM_024422.6(DSC2):c.2032A>G (p.Thr678Ala)
|
|
|
|
NM_024422.6(DSC2):c.2033C>T (p.Thr678Ile)
|
rs794728062
|
|
|
NM_024422.6(DSC2):c.2038C>A (p.Arg680Ser)
|
rs757253682
|
|
|
NM_024422.6(DSC2):c.2038C>T (p.Arg680Cys)
|
rs757253682
|
|
|
NM_024422.6(DSC2):c.2039G>A (p.Arg680His)
|
rs374002111
|
|
|
NM_024422.6(DSC2):c.2045A>T (p.Asp682Val)
|
|
|
|
NM_024422.6(DSC2):c.2054T>C (p.Ile685Thr)
|
rs1598573230
|
|
|
NM_024422.6(DSC2):c.2059G>C (p.Gly687Arg)
|
rs199616533
|
|
|
NM_024422.6(DSC2):c.205C>A (p.Pro69Thr)
|
|
|
|
NM_024422.6(DSC2):c.2074C>A (p.Leu692Ile)
|
|
|
|
NM_024422.6(DSC2):c.2096C>A (p.Ala699Glu)
|
|
|
|
NM_024422.6(DSC2):c.2096C>T (p.Ala699Val)
|
rs2144790608
|
|
|
NM_024422.6(DSC2):c.2098A>G (p.Ile700Val)
|
rs1986830558
|
|
|
NM_024422.6(DSC2):c.2100_2102dup (p.Leu702dup)
|
rs2144790582
|
|
|
NM_024422.6(DSC2):c.2102T>G (p.Leu701Trp)
|
|
|
|
NM_024422.6(DSC2):c.2103G>T (p.Leu701Phe)
|
|
|
|
NM_024422.6(DSC2):c.2108G>A (p.Gly703Asp)
|
|
|
|
NM_024422.6(DSC2):c.2110A>C (p.Ile704Leu)
|
rs1986830020
|
|
|
NM_024422.6(DSC2):c.2113G>A (p.Ala705Thr)
|
rs1986829904
|
|
|
NM_024422.6(DSC2):c.211T>G (p.Phe71Val)
|
|
|
|
NM_024422.6(DSC2):c.2124T>C (p.Phe708=)
|
|
|
|
NM_024422.6(DSC2):c.2124T>G (p.Phe708Leu)
|
|
|
|
NM_024422.6(DSC2):c.2126-11_2126-8del
|
rs1476161781
|
|
|
NM_024422.6(DSC2):c.2147G>A (p.Cys716Tyr)
|
rs764008863
|
|
|
NM_024422.6(DSC2):c.2162C>A (p.Thr721Lys)
|
rs759513934
|
|
|
NM_024422.6(DSC2):c.216A>C (p.Gln72His)
|
rs767293228
|
|
|
NM_024422.6(DSC2):c.216A>G (p.Gln72=)
|
rs767293228
|
|
|
NM_024422.6(DSC2):c.2185C>A (p.Pro729Thr)
|
rs1422818892
|
|
|
NM_024422.6(DSC2):c.2198C>T (p.Ala733Val)
|
rs886053695
|
|
|
NM_024422.6(DSC2):c.2201A>G (p.Gln734Arg)
|
|
|
|
NM_024422.6(DSC2):c.2218T>C (p.Ser740Pro)
|
rs1555637438
|
|
|
NM_024422.6(DSC2):c.2229A>C (p.Glu743Asp)
|
rs1380094242
|
|
|
NM_024422.6(DSC2):c.222G>T (p.Leu74Phe)
|
rs2144846839
|
|
|
NM_024422.6(DSC2):c.2234C>T (p.Pro745Leu)
|
rs2144788073
|
|
|
NM_024422.6(DSC2):c.2236G>A (p.Gly746Arg)
|
rs1986795375
|
|
|
NM_024422.6(DSC2):c.2248G>A (p.Val750Met)
|
rs753775769
|
|
|
NM_024422.6(DSC2):c.2250+3A>G
|
rs1555637433
|
|
|
NM_024422.6(DSC2):c.2251-4T>C
|
rs2144784611
|
|
|
NM_024422.6(DSC2):c.2251T>C (p.Tyr751His)
|
|
|
|
NM_024422.6(DSC2):c.2276A>C (p.Gln759Pro)
|
|
|
|
NM_024422.6(DSC2):c.2279C>G (p.Thr760Ser)
|
rs1331111206
|
|
|
NM_024422.6(DSC2):c.2288C>T (p.Ala763Val)
|
rs1986739683
|
|
|
NM_024422.6(DSC2):c.229G>A (p.Gly77Ser)
|
|
|
|
NM_024422.6(DSC2):c.22G>A (p.Gly8Ser)
|
rs1555641325
|
|
|
NM_024422.6(DSC2):c.2309G>A (p.Gly770Asp)
|
|
|
|
NM_024422.6(DSC2):c.230G>T (p.Gly77Val)
|
rs761544006
|
|
|
NM_024422.6(DSC2):c.2344G>A (p.Glu782Lys)
|
rs866805043
|
|
|
NM_024422.6(DSC2):c.2347A>G (p.Thr783Ala)
|
|
|
|
NM_024422.6(DSC2):c.2359G>A (p.Val787Met)
|
rs1789053
|
|
|
NM_024422.6(DSC2):c.2363A>C (p.Lys788Thr)
|
rs1430547540
|
|
|
NM_024422.6(DSC2):c.2369G>A (p.Gly790Glu)
|
rs1555637241
|
|
|
NM_024422.6(DSC2):c.2375A>G (p.Gln792Arg)
|
|
|
|
NM_024422.6(DSC2):c.2377A>G (p.Thr793Ala)
|
|
|
|
NM_024422.6(DSC2):c.2379del (p.Ser794fs)
|
rs2144783901
|
|
|
NM_024422.6(DSC2):c.2383G>A (p.Glu795Lys)
|
|
|
|
NM_024422.6(DSC2):c.2384_2385inv (p.Glu795Val)
|
|
|
|
NM_024422.6(DSC2):c.2393G>T (p.Arg798Leu)
|
rs61731921
|
|
|
NM_024422.6(DSC2):c.2398G>T (p.Ala800Ser)
|
rs565136635
|
|
|
NM_024422.6(DSC2):c.2398del (p.Ala800fs)
|
rs397517399
|
|
|
NM_024422.6(DSC2):c.2402G>A (p.Gly801Asp)
|
rs1215462499
|
|
|
NM_024422.6(DSC2):c.2408A>C (p.His803Pro)
|
|
|
|
NM_024422.6(DSC2):c.2412C>A (p.His804Gln)
|
rs1986728077
|
|
|
NM_024422.6(DSC2):c.2437C>T (p.His813Tyr)
|
rs1402474064
|
|
|
NM_024422.6(DSC2):c.2438A>C (p.His813Pro)
|
rs766881629
|
|
|
NM_024422.6(DSC2):c.2440A>T (p.Thr814Ser)
|
|
|
|
NM_024422.6(DSC2):c.2444A>G (p.Glu815Gly)
|
rs1473364512
|
|
|
NM_024422.6(DSC2):c.2451C>A (p.Asp817Glu)
|
rs762214540
|
|
|
NM_024422.6(DSC2):c.2456G>A (p.Cys819Tyr)
|
rs773961399
|
|
|
NM_024422.6(DSC2):c.2462A>G (p.Tyr821Cys)
|
rs762627642
|
|
|
NM_024422.6(DSC2):c.2487del (p.Phe829fs)
|
rs794728073
|
|
|
NM_024422.6(DSC2):c.2497C>G (p.Arg833Gly)
|
rs142410803
|
|
|
NM_024422.6(DSC2):c.2508+6T>C
|
|
|
|
NM_024422.6(DSC2):c.2516A>G (p.Tyr839Cys)
|
rs2144781456
|
|
|
NM_024422.6(DSC2):c.2522G>A (p.Cys841Tyr)
|
rs2144781440
|
|
|
NM_024422.6(DSC2):c.2529A>C (p.Gln843His)
|
rs2144781418
|
|
|
NM_024422.6(DSC2):c.2548delinsTT (p.Ala850fs)
|
rs794728077
|
|
|
NM_024422.6(DSC2):c.254T>C (p.Ile85Thr)
|
|
|
|
NM_024422.6(DSC2):c.2570_2573dup (p.Asn858delinsLysTer)
|
|
|
|
NM_024422.6(DSC2):c.2570_2574del (p.Tyr857fs)
|
rs2144781196
|
|
|
NM_024422.6(DSC2):c.2582_2585dup (p.Gly863fs)
|
rs780970079
|
|
|
NM_024422.6(DSC2):c.2597C>T (p.Ala866Val)
|
rs760363798
|
|
|
NM_024422.6(DSC2):c.2597_2600del (p.Ala866fs)
|
rs2144781031
|
|
|
NM_024422.6(DSC2):c.2606T>G (p.Val869Gly)
|
|
|
|
NM_024422.6(DSC2):c.2608G>T (p.Gly870Cys)
|
rs1986689119
|
|
|
NM_024422.6(DSC2):c.2609G>A (p.Gly870Asp)
|
|
|
|
NM_024422.6(DSC2):c.2624G>T (p.Arg875Leu)
|
|
|
|
NM_024422.6(DSC2):c.2627A>T (p.Gln876Leu)
|
rs1004351611
|
|
|
NM_024422.6(DSC2):c.2638G>A (p.Gly880Arg)
|
rs1986686862
|
|
|
NM_024422.6(DSC2):c.2639G>A (p.Gly880Glu)
|
|
|
|
NM_024422.6(DSC2):c.2644G>A (p.Glu882Lys)
|
rs1352394486
|
|
|
NM_024422.6(DSC2):c.2664G>C (p.Glu888Asp)
|
rs748675400
|
|
|
NM_024422.6(DSC2):c.2666C>A (p.Pro889His)
|
rs2144780689
|
|
|
NM_024422.6(DSC2):c.2683G>A (p.Ala895Thr)
|
rs1060502988
|
|
|
NM_024422.6(DSC2):c.2684C>G (p.Ala895Gly)
|
rs1986685195
|
|
|
NM_024422.6(DSC2):c.2693G>T (p.Cys898Phe)
|
|
|
|
NM_024422.6(DSC2):c.2695A>T (p.Met899Leu)
|
|
|
|
NM_024422.6(DSC2):c.2705G>T (p.Ter902Leu)
|
rs1986683368
|
|
|
NM_024422.6(DSC2):c.286A>T (p.Ile96Leu)
|
|
|
|
NM_024422.6(DSC2):c.28T>C (p.Trp10Arg)
|
rs1987977039
|
|
|
NM_024422.6(DSC2):c.296C>A (p.Ser99Tyr)
|
|
|
|
NM_024422.6(DSC2):c.296C>T (p.Ser99Phe)
|
|
|
|
NM_024422.6(DSC2):c.2T>G (p.Met1Arg)
|
|
|
|
NM_024422.6(DSC2):c.301A>G (p.Thr101Ala)
|
rs1372970572
|
|
|
NM_024422.6(DSC2):c.309C>A (p.Asn103Lys)
|
rs1484070582
|
|
|
NM_024422.6(DSC2):c.311A>T (p.Gln104Leu)
|
rs1987621652
|
|
|
NM_024422.6(DSC2):c.318G>T (p.Lys106Asn)
|
|
|
|
NM_024422.6(DSC2):c.324A>T (p.Lys108Asn)
|
|
|
|
NM_024422.6(DSC2):c.328T>C (p.Phe110Leu)
|
|
|
|
NM_024422.6(DSC2):c.332T>G (p.Val111Gly)
|
|
|
|
NM_024422.6(DSC2):c.347A>C (p.Gln116Pro)
|
|
|
|
NM_024422.6(DSC2):c.355-9T>A
|
|
|
|
NM_024422.6(DSC2):c.355G>A (p.Val119Ile)
|
rs2144843633
|
|
|
NM_024422.6(DSC2):c.371A>G (p.His124Arg)
|
rs794728061
|
|
|
NM_024422.6(DSC2):c.378A>C (p.Lys126Asn)
|
|
|
|
NM_024422.6(DSC2):c.38C>T (p.Ala13Val)
|
rs1404155315
|
|
|
NM_024422.6(DSC2):c.397G>C (p.Ala133Pro)
|
rs200218585
|
|
|
NM_024422.6(DSC2):c.401A>G (p.Lys134Arg)
|
|
|
|
NM_024422.6(DSC2):c.413C>T (p.Ala138Val)
|
|
|
|
NM_024422.6(DSC2):c.428C>G (p.Ser143Trp)
|
|
|
|
NM_024422.6(DSC2):c.428C>T (p.Ser143Leu)
|
rs769576778
|
|
|
NM_024422.6(DSC2):c.443C>G (p.Ser148Cys)
|
|
|
|
NM_024422.6(DSC2):c.448G>T (p.Gly150Cys)
|
|
|
|
NM_024422.6(DSC2):c.466C>T (p.Leu156Phe)
|
rs2144843013
|
|
|
NM_024422.6(DSC2):c.46C>G (p.Arg16Gly)
|
|
|
|
NM_024422.6(DSC2):c.474+5C>G
|
|
|
|
NM_024422.6(DSC2):c.488C>A (p.Thr163Lys)
|
rs758759298
|
|
|
NM_024422.6(DSC2):c.500A>C (p.Tyr167Ser)
|
rs1987523408
|
|
|
NM_024422.6(DSC2):c.503C>G (p.Thr168Ser)
|
|
|
|
NM_024422.6(DSC2):c.517A>G (p.Ile173Val)
|
rs766855728
|
|
|
NM_024422.6(DSC2):c.530G>C (p.Gly177Ala)
|
|
|
|
NM_024422.6(DSC2):c.545C>T (p.Pro182Leu)
|
|
|
|
NM_024422.6(DSC2):c.548G>A (p.Arg183Gln)
|
rs554713834
|
|
|
NM_024422.6(DSC2):c.559T>C (p.Tyr187His)
|
rs1251921612
|
|
|
NM_024422.6(DSC2):c.562G>A (p.Val188Met)
|
|
|
|
NM_024422.6(DSC2):c.574A>C (p.Thr192Pro)
|
rs876657789
|
|
|
NM_024422.6(DSC2):c.575C>T (p.Thr192Ile)
|
rs2144838831
|
|
|
NM_024422.6(DSC2):c.577_624del (p.Gly193_Ser208del)
|
rs767081975
|
|
|
NM_024422.6(DSC2):c.584T>C (p.Leu195Ser)
|
rs876657787
|
|
|
NM_024422.6(DSC2):c.585G>C (p.Leu195Phe)
|
rs912124448
|
|
|
NM_024422.6(DSC2):c.590G>T (p.Cys197Phe)
|
rs2144838763
|
|
|
NM_024422.6(DSC2):c.607C>T (p.Arg203Cys)
|
rs142331975
|
|
|
NM_024422.6(DSC2):c.610G>A (p.Glu204Lys)
|
|
|
|
NM_024422.6(DSC2):c.619G>A (p.Glu207Lys)
|
rs200634448
|
|
|
NM_024422.6(DSC2):c.621A>C (p.Glu207Asp)
|
rs2144838603
|
|
|
NM_024422.6(DSC2):c.629A>C (p.Glu210Ala)
|
|
|
|
NM_024422.6(DSC2):c.62C>T (p.Thr21Ile)
|
|
|
|
NM_024422.6(DSC2):c.634A>G (p.Ile212Val)
|
|
|
|
NM_024422.6(DSC2):c.635T>C (p.Ile212Thr)
|
rs1598587612
|
|
|
NM_024422.6(DSC2):c.643G>A (p.Ala215Thr)
|
rs1435574320
|
|
|
NM_024422.6(DSC2):c.647C>T (p.Thr216Ile)
|
rs780448272
|
|
|
NM_024422.6(DSC2):c.656A>T (p.Asp219Val)
|
rs1047981208
|
|
|
NM_024422.6(DSC2):c.665C>T (p.Thr222Ile)
|
rs1987453864
|
|
|
NM_024422.6(DSC2):c.667C>T (p.Pro223Ser)
|
rs762722282
|
|
|
NM_024422.6(DSC2):c.69+5G>A
|
|
|
|
NM_024422.6(DSC2):c.70A>T (p.Ile24Phe)
|
|
|
|
NM_024422.6(DSC2):c.713A>G (p.Asp238Gly)
|
rs2144833773
|
|
|
NM_024422.6(DSC2):c.715A>G (p.Asn239Asp)
|
rs774551962
|
|
|
NM_024422.6(DSC2):c.719A>G (p.Tyr240Cys)
|
|
|
|
NM_024422.6(DSC2):c.721C>G (p.Pro241Ala)
|
rs727505169
|
|
|
NM_024422.6(DSC2):c.721C>T (p.Pro241Ser)
|
rs727505169
|
|
|
NM_024422.6(DSC2):c.734A>G (p.Glu245Gly)
|
rs373201722
|
|
|
NM_024422.6(DSC2):c.739A>G (p.Thr247Ala)
|
rs1567980622
|
|
|
NM_024422.6(DSC2):c.743_748del (p.Tyr248_Thr249del)
|
rs776784065
|
|
|
NM_024422.6(DSC2):c.748T>A (p.Phe250Ile)
|
|
|
|
NM_024422.6(DSC2):c.748T>G (p.Phe250Val)
|
rs111556656
|
|
|
NM_024422.6(DSC2):c.752C>A (p.Thr251Lys)
|
rs1987446781
|
|
|
NM_024422.6(DSC2):c.754A>G (p.Ile252Val)
|
rs751996698
|
|
|
NM_024422.6(DSC2):c.76A>G (p.Ile26Val)
|
|
|
|
NM_024422.6(DSC2):c.772G>A (p.Val258Met)
|
rs1060502992
|
|
|
NM_024422.6(DSC2):c.774G>C (p.Val258=)
|
|
|
|
NM_024422.6(DSC2):c.775+3_775+6del
|
|
|
|
NM_024422.6(DSC2):c.776-3T>C
|
rs752192642
|
|
|
NM_024422.6(DSC2):c.776G>A (p.Gly259Asp)
|
rs1335645459
|
|
|
NM_024422.6(DSC2):c.779C>G (p.Thr260Ser)
|
|
|
|
NM_024422.6(DSC2):c.779C>T (p.Thr260Ile)
|
|
|
|
NM_024422.6(DSC2):c.782C>T (p.Thr261Ile)
|
|
|
|
NM_024422.6(DSC2):c.799G>C (p.Ala267Pro)
|
rs966660258
|
|
|
NM_024422.6(DSC2):c.802A>C (p.Thr268Pro)
|
rs201015785
|
|
|
NM_024422.6(DSC2):c.811G>A (p.Asp271Asn)
|
|
|
|
NM_024422.6(DSC2):c.812A>T (p.Asp271Val)
|
rs1987412406
|
|
|
NM_024422.6(DSC2):c.813T>A (p.Asp271Glu)
|
|
|
|
NM_024422.6(DSC2):c.826A>G (p.Met276Val)
|
|
|
|
NM_024422.6(DSC2):c.832A>G (p.Thr278Ala)
|
|
|
|
NM_024422.6(DSC2):c.841A>C (p.Lys281Gln)
|
rs373697870
|
|
|
NM_024422.6(DSC2):c.844T>C (p.Tyr282His)
|
rs397517405
|
|
|
NM_024422.6(DSC2):c.847T>C (p.Ser283Pro)
|
|
|
|
NM_024422.6(DSC2):c.848C>G (p.Ser283Cys)
|
rs2144830674
|
|
|
NM_024422.6(DSC2):c.853A>G (p.Ile285Val)
|
|
|
|
NM_024422.6(DSC2):c.865C>G (p.Pro289Ala)
|
rs200802591
|
|
|
NM_024422.6(DSC2):c.869C>T (p.Pro290Leu)
|
|
|
|
NM_024422.6(DSC2):c.877A>G (p.Thr293Ala)
|
|
|
|
NM_024422.6(DSC2):c.928C>G (p.Gln310Glu)
|
|
|
|
NM_024422.6(DSC2):c.929A>G (p.Gln310Arg)
|
|
|
|
NM_024422.6(DSC2):c.938G>A (p.Arg313Lys)
|
|
|
|
NM_024422.6(DSC2):c.940G>A (p.Glu314Lys)
|
|
|
|
NM_024422.6(DSC2):c.942+5C>T
|
rs2144830111
|
|
|
NM_024422.6(DSC2):c.943-3C>T
|
|
|
|
NM_024422.6(DSC2):c.943T>C (p.Leu315=)
|
rs2144821693
|
|
|
NM_024422.6(DSC2):c.946A>T (p.Ile316Phe)
|
rs1233598092
|
|
|
NM_024422.6(DSC2):c.959A>C (p.Gln320Pro)
|
rs1481724064
|
|
|
NM_024422.6(DSC2):c.973G>A (p.Val325Ile)
|
|
|
|
NM_024422.6(DSC2):c.983T>A (p.Met328Lys)
|
rs1987280810
|
|
|
NM_024422.6(DSC2):c.986A>G (p.Asp329Gly)
|
|
|
|
NM_032578.4(MYPN):c.1019C>A (p.Ser340Tyr)
|
rs777080663
|
|
|
NM_032578.4(MYPN):c.101G>A (p.Arg34Gln)
|
rs730880168
|
|
|
NM_032578.4(MYPN):c.1033A>G (p.Asn345Asp)
|
rs757786796
|
|
|
NM_032578.4(MYPN):c.104C>T (p.Ala35Val)
|
|
|
|
NM_032578.4(MYPN):c.1078G>A (p.Gly360Arg)
|
rs1248269134
|
|
|
NM_032578.4(MYPN):c.1081G>A (p.Val361Ile)
|
rs527628617
|
|
|
NM_032578.4(MYPN):c.1081G>C (p.Val361Leu)
|
rs527628617
|
|
|
NM_032578.4(MYPN):c.1087T>G (p.Ser363Ala)
|
rs775098267
|
|
|
NM_032578.4(MYPN):c.1093G>A (p.Asp365Asn)
|
|
|
|
NM_032578.4(MYPN):c.1101A>C (p.Glu367Asp)
|
rs2042648604
|
|
|
NM_032578.4(MYPN):c.1124T>C (p.Met375Thr)
|
|
|
|
NM_032578.4(MYPN):c.1130+5T>C
|
|
|
|
NM_032578.4(MYPN):c.1147G>A (p.Glu383Lys)
|
rs749334556
|
|
|
NM_032578.4(MYPN):c.1180A>T (p.Ile394Phe)
|
rs2134089584
|
|
|
NM_032578.4(MYPN):c.1186C>G (p.Pro396Ala)
|
rs1554842709
|
|
|
NM_032578.4(MYPN):c.1188_1196dup (p.Ala397_Pro399dup)
|
rs2042706109
|
|
|
NM_032578.4(MYPN):c.119A>T (p.Asn40Ile)
|
rs2133993599
|
|
|
NM_032578.4(MYPN):c.1217C>T (p.Ala406Val)
|
|
|
|
NM_032578.4(MYPN):c.1231G>A (p.Ala411Thr)
|
|
|
|
NM_032578.4(MYPN):c.1246-16G>T
|
rs778467080
|
|
|
NM_032578.4(MYPN):c.1253G>A (p.Ser418Asn)
|
rs1008949819
|
|
|
NM_032578.4(MYPN):c.1259C>A (p.Thr420Asn)
|
rs2042741498
|
|
|
NM_032578.4(MYPN):c.1280A>G (p.Asp427Gly)
|
rs2042741903
|
|
|
NM_032578.4(MYPN):c.128A>G (p.His43Arg)
|
rs752439535
|
|
|
NM_032578.4(MYPN):c.1292T>C (p.Ile431Thr)
|
|
|
|
NM_032578.4(MYPN):c.1295T>C (p.Ile432Thr)
|
rs1589558640
|
|
|
NM_032578.4(MYPN):c.1304C>T (p.Pro435Leu)
|
rs1416910479
|
|
|
NM_032578.4(MYPN):c.132C>A (p.Phe44Leu)
|
rs2133993682
|
|
|
NM_032578.4(MYPN):c.1339T>A (p.Ser447Thr)
|
|
|
|
NM_032578.4(MYPN):c.133G>A (p.Gly45Ser)
|
rs1297861595
|
|
|
NM_032578.4(MYPN):c.1345G>A (p.Gly449Ser)
|
rs1279495838
|
|
|
NM_032578.4(MYPN):c.1345G>T (p.Gly449Cys)
|
rs1279495838
|
|
|
NM_032578.4(MYPN):c.1346G>T (p.Gly449Val)
|
|
|
|
NM_032578.4(MYPN):c.1362T>G (p.Phe454Leu)
|
|
|
|
NM_032578.4(MYPN):c.1375A>G (p.Lys459Glu)
|
rs2042920077
|
|
|
NM_032578.4(MYPN):c.1378G>C (p.Gly460Arg)
|
rs1047977459
|
|
|
NM_032578.4(MYPN):c.1381G>A (p.Ala461Thr)
|
|
|
|
NM_032578.4(MYPN):c.13A>C (p.Ser5Arg)
|
rs1554839140
|
|
|
NM_032578.4(MYPN):c.140C>G (p.Pro47Arg)
|
rs777446804
|
|
|
NM_032578.4(MYPN):c.1411G>A (p.Glu471Lys)
|
rs2042921189
|
|
|
NM_032578.4(MYPN):c.1418C>G (p.Thr473Ser)
|
rs2134137254
|
|
|
NM_032578.4(MYPN):c.1424T>C (p.Ile475Thr)
|
rs754505802
|
|
|
NM_032578.4(MYPN):c.1426G>A (p.Glu476Lys)
|
rs2134137320
|
|
|
NM_032578.4(MYPN):c.1433C>T (p.Ser478Phe)
|
rs2042921597
|
|
|
NM_032578.4(MYPN):c.1435C>A (p.Pro479Thr)
|
|
|
|
NM_032578.4(MYPN):c.1441T>G (p.Phe481Val)
|
|
|
|
NM_032578.4(MYPN):c.1445G>A (p.Arg482Lys)
|
rs773665854
|
|
|
NM_032578.4(MYPN):c.1473G>A (p.Met491Ile)
|
rs1437786609
|
|
|
NM_032578.4(MYPN):c.1474G>A (p.Ala492Thr)
|
rs2134151595
|
|
|
NM_032578.4(MYPN):c.1475C>T (p.Ala492Val)
|
|
|
|
NM_032578.4(MYPN):c.1482A>C (p.Pro494=)
|
rs532744333
|
|
|
NM_032578.4(MYPN):c.1483+6G>A
|
rs775382618
|
|
|
NM_032578.4(MYPN):c.151G>A (p.Ala51Thr)
|
|
|
|
NM_032578.4(MYPN):c.1523A>G (p.Glu508Gly)
|
rs1554845333
|
|
|
NM_032578.4(MYPN):c.154G>A (p.Glu52Lys)
|
rs2042243248
|
|
|
NM_032578.4(MYPN):c.1577G>T (p.Ser526Ile)
|
rs2134165829
|
|
|
NM_032578.4(MYPN):c.1578C>G (p.Ser526Arg)
|
rs533432953
|
|
|
NM_032578.4(MYPN):c.1586A>C (p.Gln529Pro)
|
rs1158070956
|
|
|
NM_032578.4(MYPN):c.158G>A (p.Gly53Glu)
|
|
|
|
NM_032578.4(MYPN):c.1602A>T (p.Gly534=)
|
rs2134167600
|
|
|
NM_032578.4(MYPN):c.1618AAC[3] (p.Asn541dup)
|
rs1428622009
|
|
|
NM_032578.4(MYPN):c.161G>C (p.Gly54Ala)
|
|
|
|
NM_032578.4(MYPN):c.163G>A (p.Gly55Arg)
|
rs2042243448
|
|
|
NM_032578.4(MYPN):c.1655A>G (p.Asn552Ser)
|
|
|
|
NM_032578.4(MYPN):c.1676A>C (p.Gln559Pro)
|
rs1187897430
|
|
|
NM_032578.4(MYPN):c.1681_1683del (p.Ser561del)
|
|
|
|
NM_032578.4(MYPN):c.1688C>T (p.Pro563Leu)
|
rs899747855
|
|
|
NM_032578.4(MYPN):c.1714C>G (p.Gln572Glu)
|
|
|
|
NM_032578.4(MYPN):c.1717C>T (p.Pro573Ser)
|
rs779895608
|
|
|
NM_032578.4(MYPN):c.1720C>G (p.Pro574Ala)
|
|
|
|
NM_032578.4(MYPN):c.1721C>G (p.Pro574Arg)
|
rs1240696321
|
|
|
NM_032578.4(MYPN):c.172G>A (p.Asp58Asn)
|
|
|
|
NM_032578.4(MYPN):c.1741G>T (p.Val581Phe)
|
rs1464184643
|
|
|
NM_032578.4(MYPN):c.1751A>G (p.Asn584Ser)
|
rs2043055172
|
|
|
NM_032578.4(MYPN):c.1781T>C (p.Ile594Thr)
|
|
|
|
NM_032578.4(MYPN):c.17T>C (p.Ile6Thr)
|
rs774766927
|
|
|
NM_032578.4(MYPN):c.1802A>G (p.Asn601Ser)
|
rs2043056360
|
|
|
NM_032578.4(MYPN):c.1805T>C (p.Leu602Pro)
|
rs779148735
|
|
|
NM_032578.4(MYPN):c.1864C>G (p.Gln622Glu)
|
rs1226400049
|
|
|
NM_032578.4(MYPN):c.1865A>G (p.Gln622Arg)
|
rs2134169106
|
|
|
NM_032578.4(MYPN):c.1867A>T (p.Thr623Ser)
|
|
|
|
NM_032578.4(MYPN):c.1891A>G (p.Arg631Gly)
|
rs2134169305
|
|
|
NM_032578.4(MYPN):c.1924C>T (p.Pro642Ser)
|
|
|
|
NM_032578.4(MYPN):c.194C>A (p.Ala65Asp)
|
rs147553723
|
|
|
NM_032578.4(MYPN):c.1951C>A (p.Pro651Thr)
|
|
|
|
NM_032578.4(MYPN):c.1952C>T (p.Pro651Leu)
|
|
|
|
NM_032578.4(MYPN):c.1974-3C>T
|
|
|
|
NM_032578.4(MYPN):c.1999C>A (p.His667Asn)
|
rs1232931575
|
|
|
NM_032578.4(MYPN):c.2003A>T (p.Asn668Ile)
|
rs1554846764
|
|
|
NM_032578.4(MYPN):c.2015T>C (p.Leu672Pro)
|
rs750020097
|
|
|
NM_032578.4(MYPN):c.2018A>G (p.Glu673Gly)
|
|
|
|
NM_032578.4(MYPN):c.2022A>T (p.Gln674His)
|
rs1589587222
|
|
|
NM_032578.4(MYPN):c.2042C>G (p.Pro681Arg)
|
rs202084832
|
|
|
NM_032578.4(MYPN):c.2048C>T (p.Ser683Leu)
|
rs1278724548
|
|
|
NM_032578.4(MYPN):c.204C>G (p.Ser68Arg)
|
|
|
|
NM_032578.4(MYPN):c.2065C>T (p.Pro689Ser)
|
|
|
|
NM_032578.4(MYPN):c.2066C>T (p.Pro689Leu)
|
rs1554846787
|
|
|
NM_032578.4(MYPN):c.2074A>G (p.Met692Val)
|
rs1589587340
|
|
|
NM_032578.4(MYPN):c.2076G>T (p.Met692Ile)
|
|
|
|
NM_032578.4(MYPN):c.2089T>G (p.Ser697Ala)
|
rs2043187783
|
|
|
NM_032578.4(MYPN):c.2108T>C (p.Val703Ala)
|
rs2043188479
|
|
|
NM_032578.4(MYPN):c.2126A>G (p.Gln709Arg)
|
rs2134199222
|
|
|
NM_032578.4(MYPN):c.2134G>T (p.Ala712Ser)
|
|
|
|
NM_032578.4(MYPN):c.2164C>G (p.Arg722Gly)
|
rs749716608
|
|
|
NM_032578.4(MYPN):c.2165G>A (p.Arg722Gln)
|
rs530701227
|
|
|
NM_032578.4(MYPN):c.217G>C (p.Asp73His)
|
rs2042244267
|
|
|
NM_032578.4(MYPN):c.2183C>A (p.Pro728His)
|
rs570682390
|
|
|
NM_032578.4(MYPN):c.2183C>T (p.Pro728Leu)
|
rs570682390
|
|
|
NM_032578.4(MYPN):c.2186C>T (p.Ser729Phe)
|
rs1210466686
|
|
|
NM_032578.4(MYPN):c.219C>A (p.Asp73Glu)
|
rs960869945
|
|
|
NM_032578.4(MYPN):c.21A>C (p.Glu7Asp)
|
rs759945622
|
|
|
NM_032578.4(MYPN):c.2216C>T (p.Pro739Leu)
|
rs2134199742
|
|
|
NM_032578.4(MYPN):c.2219C>T (p.Ser740Phe)
|
|
|
|
NM_032578.4(MYPN):c.222A>C (p.Glu74Asp)
|
rs2042244450
|
|
|
NM_032578.4(MYPN):c.2251C>T (p.Pro751Ser)
|
|
|
|
NM_032578.4(MYPN):c.2265G>C (p.Gln755His)
|
rs2043192248
|
|
|
NM_032578.4(MYPN):c.2294T>C (p.Val765Ala)
|
rs759184337
|
|
|
NM_032578.4(MYPN):c.2294T>G (p.Val765Gly)
|
rs759184337
|
|
|
NM_032578.4(MYPN):c.2297C>G (p.Ser766Cys)
|
rs2043192805
|
|
|
NM_032578.4(MYPN):c.2299C>T (p.His767Tyr)
|
rs2134200267
|
|
|
NM_032578.4(MYPN):c.22G>A (p.Ala8Thr)
|
rs2042239747
|
|
|
NM_032578.4(MYPN):c.22G>C (p.Ala8Pro)
|
rs2042239747
|
|
|
NM_032578.4(MYPN):c.2302C>G (p.Pro768Ala)
|
rs772356751
|
|
|
NM_032578.4(MYPN):c.2314A>G (p.Thr772Ala)
|
rs1060503577
|
|
|
NM_032578.4(MYPN):c.2317A>G (p.Lys773Glu)
|
rs760331604
|
|
|
NM_032578.4(MYPN):c.2319A>T (p.Lys773Asn)
|
rs1468437257
|
|
|
NM_032578.4(MYPN):c.2344A>G (p.Asn782Asp)
|
rs765596732
|
|
|
NM_032578.4(MYPN):c.2351C>G (p.Pro784Arg)
|
|
|
|
NM_032578.4(MYPN):c.2353C>T (p.Leu785Phe)
|
rs2043194035
|
|
|
NM_032578.4(MYPN):c.2354T>A (p.Leu785His)
|
rs758614811
|
|
|
NM_032578.4(MYPN):c.2362G>C (p.Gly788Arg)
|
rs2043194185
|
|
|
NM_032578.4(MYPN):c.2384C>G (p.Pro795Arg)
|
rs747076390
|
|
|
NM_032578.4(MYPN):c.239G>A (p.Arg80Lys)
|
rs1564647073
|
|
|
NM_032578.4(MYPN):c.2407A>G (p.Ser803Gly)
|
rs1479692619
|
|
|
NM_032578.4(MYPN):c.2429G>C (p.Arg810Pro)
|
rs1021994218
|
|
|
NM_032578.4(MYPN):c.242T>C (p.Leu81Pro)
|
|
|
|
NM_032578.4(MYPN):c.2440C>A (p.Pro814Thr)
|
rs2134201155
|
|
|
NM_032578.4(MYPN):c.2443A>G (p.Ile815Val)
|
rs876657922
|
|
|
NM_032578.4(MYPN):c.2467A>G (p.Ile823Val)
|
rs2134201357
|
|
|
NM_032578.4(MYPN):c.2474A>G (p.Asn825Ser)
|
|
|
|
NM_032578.4(MYPN):c.2495C>T (p.Ser832Phe)
|
rs1416050336
|
|
|
NM_032578.4(MYPN):c.2503C>A (p.Pro835Thr)
|
rs1196958004
|
|
|
NM_032578.4(MYPN):c.2519T>C (p.Ile840Thr)
|
rs1554846944
|
|
|
NM_032578.4(MYPN):c.2521C>A (p.Pro841Thr)
|
rs199476410
|
|
|
NM_032578.4(MYPN):c.2527A>T (p.Thr843Ser)
|
rs2134201674
|
|
|
NM_032578.4(MYPN):c.2530A>G (p.Asn844Asp)
|
rs2134201696
|
|
|
NM_032578.4(MYPN):c.2540G>A (p.Gly847Glu)
|
rs181848049
|
|
|
NM_032578.4(MYPN):c.2569T>A (p.Ser857Thr)
|
|
|
|
NM_032578.4(MYPN):c.2573A>G (p.Gln858Arg)
|
rs2134204422
|
|
|
NM_032578.4(MYPN):c.2582C>T (p.Ala861Val)
|
|
|
|
NM_032578.4(MYPN):c.2617G>T (p.Asp873Tyr)
|
rs767769379
|
|
|
NM_032578.4(MYPN):c.2623A>G (p.Asn875Asp)
|
rs760957828
|
|
|
NM_032578.4(MYPN):c.2630G>A (p.Arg877His)
|
rs371221569
|
|
|
NM_032578.4(MYPN):c.2644G>T (p.Ala882Ser)
|
rs199476411
|
|
|
NM_032578.4(MYPN):c.2662G>A (p.Gly888Arg)
|
|
|
|
NM_032578.4(MYPN):c.2702A>C (p.Gln901Pro)
|
|
|
|
NM_032578.4(MYPN):c.2703+3A>T
|
|
|
|
NM_032578.4(MYPN):c.2726A>G (p.Glu909Gly)
|
|
|
|
NM_032578.4(MYPN):c.2755C>T (p.Arg919Cys)
|
rs189478865
|
|
|
NM_032578.4(MYPN):c.2756G>A (p.Arg919His)
|
rs193022869
|
|
|
NM_032578.4(MYPN):c.2756G>T (p.Arg919Leu)
|
rs193022869
|
|
|
NM_032578.4(MYPN):c.2765G>A (p.Arg922His)
|
rs2043465909
|
|
|
NM_032578.4(MYPN):c.2794A>G (p.Ile932Val)
|
rs2134257485
|
|
|
NM_032578.4(MYPN):c.2808G>T (p.Glu936Asp)
|
rs753424932
|
|
|
NM_032578.4(MYPN):c.2815A>G (p.Thr939Ala)
|
|
|
|
NM_032578.4(MYPN):c.2817G>A (p.Thr939=)
|
|
|
|
NM_032578.4(MYPN):c.2829T>G (p.Ile943Met)
|
rs2043467180
|
|
|
NM_032578.4(MYPN):c.2850A>C (p.Arg950Ser)
|
|
|
|
NM_032578.4(MYPN):c.2863C>T (p.Arg955Trp)
|
rs149887823
|
|
|
NM_032578.4(MYPN):c.2873A>G (p.Glu958Gly)
|
rs1417809776
|
|
|
NM_032578.4(MYPN):c.2876G>C (p.Gly959Ala)
|
rs771893315
|
|
|
NM_032578.4(MYPN):c.2879C>T (p.Ser960Phe)
|
|
|
|
NM_032578.4(MYPN):c.2917G>C (p.Val973Leu)
|
rs1223935683
|
|
|
NM_032578.4(MYPN):c.2925G>T (p.Lys975Asn)
|
rs2134258333
|
|
|
NM_032578.4(MYPN):c.2926G>T (p.Val976Phe)
|
rs943422668
|
|
|
NM_032578.4(MYPN):c.2963G>A (p.Arg988Lys)
|
rs2134277689
|
|
|
NM_032578.4(MYPN):c.2998G>A (p.Gly1000Arg)
|
|
|
|
NM_032578.4(MYPN):c.2999G>A (p.Gly1000Glu)
|
rs2134277900
|
|
|
NM_032578.4(MYPN):c.3017T>C (p.Ile1006Thr)
|
rs864622711
|
|
|
NM_032578.4(MYPN):c.3032G>A (p.Ser1011Asn)
|
|
|
|
NM_032578.4(MYPN):c.3068A>G (p.Asn1023Ser)
|
rs905631355
|
|
|
NM_032578.4(MYPN):c.307G>A (p.Asp103Asn)
|
rs2042246065
|
|
|
NM_032578.4(MYPN):c.3091T>C (p.Ser1031Pro)
|
rs2134281687
|
|
|
NM_032578.4(MYPN):c.3099C>G (p.His1033Gln)
|
|
|
|
NM_032578.4(MYPN):c.3107T>C (p.Val1036Ala)
|
rs1554850184
|
|
|
NM_032578.4(MYPN):c.3116T>G (p.Leu1039Trp)
|
|
|
|
NM_032578.4(MYPN):c.3122T>A (p.Ile1041Asn)
|
rs754227127
|
|
|
NM_032578.4(MYPN):c.3131G>T (p.Arg1044Leu)
|
|
|
|
NM_032578.4(MYPN):c.3137C>T (p.Thr1046Ile)
|
rs1589608140
|
|
|
NM_032578.4(MYPN):c.3146G>A (p.Gly1049Asp)
|
rs878855165
|
|
|
NM_032578.4(MYPN):c.3159-18A>G
|
rs2134289672
|
|
|
NM_032578.4(MYPN):c.3170G>A (p.Arg1057Gln)
|
rs150414382
|
|
|
NM_032578.4(MYPN):c.3193C>A (p.Pro1065Thr)
|
rs1423549696
|
|
|
NM_032578.4(MYPN):c.3197T>C (p.Leu1066Pro)
|
rs2043626849
|
|
|
NM_032578.4(MYPN):c.3205C>A (p.Arg1069Ser)
|
rs368448794
|
|
|
NM_032578.4(MYPN):c.3205C>T (p.Arg1069Cys)
|
rs368448794
|
|
|
NM_032578.4(MYPN):c.3206G>T (p.Arg1069Leu)
|
rs763362861
|
|
|
NM_032578.4(MYPN):c.3245T>C (p.Met1082Thr)
|
|
|
|
NM_032578.4(MYPN):c.3247G>A (p.Val1083Ile)
|
rs765335692
|
|
|
NM_032578.4(MYPN):c.3262C>T (p.Arg1088Cys)
|
rs372824930
|
|
|
NM_032578.4(MYPN):c.3271C>T (p.Arg1091Trp)
|
rs754707304
|
|
|
NM_032578.4(MYPN):c.3285+3A>G
|
|
|
|
NM_032578.4(MYPN):c.3286-18_3286-17insA
|
|
|
|
NM_032578.4(MYPN):c.329A>C (p.Asn110Thr)
|
rs1060503575
|
|
|
NM_032578.4(MYPN):c.3301C>A (p.Pro1101Thr)
|
rs1284303981
|
|
|
NM_032578.4(MYPN):c.3301C>T (p.Pro1101Ser)
|
|
|
|
NM_032578.4(MYPN):c.3302C>T (p.Pro1101Leu)
|
rs2043669159
|
|
|
NM_032578.4(MYPN):c.3323T>G (p.Leu1108Arg)
|
rs1035710752
|
|
|
NM_032578.4(MYPN):c.3344C>T (p.Pro1115Leu)
|
|
|
|
NM_032578.4(MYPN):c.3349G>T (p.Ala1117Ser)
|
|
|
|
NM_032578.4(MYPN):c.3382G>A (p.Val1128Ile)
|
rs2043671303
|
|
|
NM_032578.4(MYPN):c.3385C>A (p.His1129Asn)
|
rs952331931
|
|
|
NM_032578.4(MYPN):c.3386A>G (p.His1129Arg)
|
rs755783155
|
|
|
NM_032578.4(MYPN):c.340G>C (p.Glu114Gln)
|
|
|
|
NM_032578.4(MYPN):c.3415C>T (p.Arg1139Cys)
|
|
|
|
NM_032578.4(MYPN):c.3416G>T (p.Arg1139Leu)
|
rs531222847
|
|
|
NM_032578.4(MYPN):c.3431A>G (p.Tyr1144Cys)
|
rs1589612099
|
|
|
NM_032578.4(MYPN):c.3440T>C (p.Ile1147Thr)
|
rs201600440
|
|
|
NM_032578.4(MYPN):c.3442G>A (p.Ala1148Thr)
|
rs200390297
|
|
|
NM_032578.4(MYPN):c.3442G>T (p.Ala1148Ser)
|
rs200390297
|
|
|
NM_032578.4(MYPN):c.3476T>A (p.Leu1159Gln)
|
rs1422495386
|
|
|
NM_032578.4(MYPN):c.3484T>C (p.Ser1162Pro)
|
rs2134300719
|
|
|
NM_032578.4(MYPN):c.3485C>T (p.Ser1162Phe)
|
|
|
|
NM_032578.4(MYPN):c.3493+6G>A
|
rs750903219
|
|
|
NM_032578.4(MYPN):c.34A>G (p.Ile12Val)
|
rs1564646814
|
|
|
NM_032578.4(MYPN):c.3512C>T (p.Ala1171Val)
|
rs2043718976
|
|
|
NM_032578.4(MYPN):c.3514C>T (p.Pro1172Ser)
|
|
|
|
NM_032578.4(MYPN):c.3518T>C (p.Val1173Ala)
|
rs781710211
|
|
|
NM_032578.4(MYPN):c.3540C>A (p.Asn1180Lys)
|
rs2134311033
|
|
|
NM_032578.4(MYPN):c.3548T>C (p.Val1183Ala)
|
rs878855166
|
|
|
NM_032578.4(MYPN):c.3569G>C (p.Arg1190Thr)
|
rs761506496
|
|
|
NM_032578.4(MYPN):c.356A>G (p.Gln119Arg)
|
rs1338413507
|
|
|
NM_032578.4(MYPN):c.3570A>C (p.Arg1190Ser)
|
rs373439318
|
|
|
NM_032578.4(MYPN):c.3577T>A (p.Cys1193Ser)
|
|
|
|
NM_032578.4(MYPN):c.3586A>G (p.Ile1196Val)
|
rs375595742
|
|
|
NM_032578.4(MYPN):c.3592A>G (p.Met1198Val)
|
|
|
|
NM_032578.4(MYPN):c.3598C>A (p.Pro1200Thr)
|
rs2134311541
|
|
|
NM_032578.4(MYPN):c.3601C>T (p.Pro1201Ser)
|
rs2134311572
|
|
|
NM_032578.4(MYPN):c.3609C>A (p.Phe1203Leu)
|
rs2134311623
|
|
|
NM_032578.4(MYPN):c.361A>G (p.Asn121Asp)
|
rs2133994576
|
|
|
NM_032578.4(MYPN):c.3632C>A (p.Thr1211Asn)
|
rs2043722750
|
|
|
NM_032578.4(MYPN):c.3632C>T (p.Thr1211Ile)
|
|
|
|
NM_032578.4(MYPN):c.363C>G (p.Asn121Lys)
|
|
|
|
NM_032578.4(MYPN):c.3646A>G (p.Arg1216Gly)
|
rs1589614570
|
|
|
NM_032578.4(MYPN):c.3658A>G (p.Ser1220Gly)
|
rs1252747604
|
|
|
NM_032578.4(MYPN):c.3660-12_3660-9del
|
rs2043822171
|
|
|
NM_032578.4(MYPN):c.3661A>G (p.Met1221Val)
|
rs1564702434
|
|
|
NM_032578.4(MYPN):c.3663G>A (p.Met1221Ile)
|
rs1564702438
|
|
|
NM_032578.4(MYPN):c.3679G>A (p.Gly1227Arg)
|
rs2043822926
|
|
|
NM_032578.4(MYPN):c.3704C>A (p.Pro1235Gln)
|
|
|
|
NM_032578.4(MYPN):c.3718G>A (p.Asp1240Asn)
|
|
|
|
NM_032578.4(MYPN):c.3721G>A (p.Ala1241Thr)
|
rs1340955437
|
|
|
NM_032578.4(MYPN):c.3722C>A (p.Ala1241Asp)
|
|
|
|
NM_032578.4(MYPN):c.3738G>T (p.Leu1246Phe)
|
|
|
|
NM_032578.4(MYPN):c.373C>G (p.Pro125Ala)
|
rs2133994610
|
|
|
NM_032578.4(MYPN):c.3756_3757insA (p.Gly1253fs)
|
rs2043824248
|
|
|
NM_032578.4(MYPN):c.3764T>G (p.Val1255Gly)
|
|
|
|
NM_032578.4(MYPN):c.3779G>A (p.Arg1260Lys)
|
rs2134338662
|
|
|
NM_032578.4(MYPN):c.3793G>A (p.Ala1265Thr)
|
rs199476416
|
|
|
NM_032578.4(MYPN):c.3793G>T (p.Ala1265Ser)
|
rs199476416
|
|
|
NM_032578.4(MYPN):c.3794-1G>A
|
|
|
|
NM_032578.4(MYPN):c.3805C>G (p.His1269Asp)
|
rs746600159
|
|
|
NM_032578.4(MYPN):c.3808C>G (p.Gln1270Glu)
|
rs730880169
|
|
|
NM_032578.4(MYPN):c.3813C>G (p.Ile1271Met)
|
rs777067913
|
|
|
NM_032578.4(MYPN):c.3815C>T (p.Pro1272Leu)
|
rs1554852276
|
|
|
NM_032578.4(MYPN):c.3824T>C (p.Met1275Thr)
|
rs370197106
|
|
|
NM_032578.4(MYPN):c.3826T>A (p.Ser1276Thr)
|
rs2043888970
|
|
|
NM_032578.4(MYPN):c.3829G>A (p.Val1277Ile)
|
rs2043889024
|
|
|
NM_032578.4(MYPN):c.3832C>A (p.Arg1278=)
|
rs763054747
|
|
|
NM_032578.4(MYPN):c.3836C>T (p.Pro1279Leu)
|
|
|
|
NM_032578.4(MYPN):c.3838A>G (p.Ser1280Gly)
|
rs1589622883
|
|
|
NM_032578.4(MYPN):c.3859C>G (p.Leu1287Val)
|
|
|
|
NM_032578.4(MYPN):c.3871G>A (p.Gly1291Arg)
|
rs2043890485
|
|
|
NM_032578.4(MYPN):c.3872G>C (p.Gly1291Ala)
|
|
|
|
NM_032578.4(MYPN):c.3877G>A (p.Asp1293Asn)
|
rs1554852297
|
|
|
NM_032578.4(MYPN):c.3880A>G (p.Ile1294Val)
|
rs1246586000
|
|
|
NM_032578.4(MYPN):c.3881T>C (p.Ile1294Thr)
|
rs2134357329
|
|
|
NM_032578.4(MYPN):c.3896C>T (p.Ser1299Phe)
|
|
|
|
NM_032578.4(MYPN):c.3899C>T (p.Ser1300Phe)
|
rs1564704607
|
|
|
NM_032578.4(MYPN):c.38C>G (p.Ser13Cys)
|
rs775838889
|
|
|
NM_032578.4(MYPN):c.3904G>A (p.Glu1302Lys)
|
|
|
|
NM_032578.4(MYPN):c.3904G>T (p.Glu1302Ter)
|
|
|
|
NM_032578.4(MYPN):c.3914T>C (p.Met1305Thr)
|
rs774564158
|
|
|
NM_032578.4(MYPN):c.3915G>A (p.Met1305Ile)
|
rs2043891482
|
|
|
NM_032578.4(MYPN):c.3920A>G (p.Tyr1307Cys)
|
rs2134357583
|
|
|
NM_032578.4(MYPN):c.3939T>G (p.Ser1313Arg)
|
|
|
|
NM_032578.4(MYPN):c.404C>G (p.Ala135Gly)
|
rs141983653
|
|
|
NM_032578.4(MYPN):c.418T>C (p.Tyr140His)
|
rs2133994804
|
|
|
NM_032578.4(MYPN):c.421T>C (p.Cys141Arg)
|
rs2042248173
|
|
|
NM_032578.4(MYPN):c.422G>T (p.Cys141Phe)
|
|
|
|
NM_032578.4(MYPN):c.424T>C (p.Ser142Pro)
|
rs2133994828
|
|
|
NM_032578.4(MYPN):c.459G>T (p.Lys153Asn)
|
rs1589528746
|
|
|
NM_032578.4(MYPN):c.502C>G (p.His168Asp)
|
rs1369595385
|
|
|
NM_032578.4(MYPN):c.502C>T (p.His168Tyr)
|
|
|
|
NM_032578.4(MYPN):c.504C>A (p.His168Gln)
|
rs2042249528
|
|
|
NM_032578.4(MYPN):c.518T>A (p.Ile173Asn)
|
rs2042249791
|
|
|
NM_032578.4(MYPN):c.548G>A (p.Ser183Asn)
|
|
|
|
NM_032578.4(MYPN):c.54G>C (p.Glu18Asp)
|
rs876657919
|
|
|
NM_032578.4(MYPN):c.557A>C (p.Glu186Ala)
|
|
|
|
NM_032578.4(MYPN):c.566A>T (p.Asn189Ile)
|
rs1589528864
|
|
|
NM_032578.4(MYPN):c.570A>C (p.Lys190Asn)
|
rs1163308868
|
|
|
NM_032578.4(MYPN):c.589T>C (p.Ser197Pro)
|
|
|
|
NM_032578.4(MYPN):c.601G>A (p.Asp201Asn)
|
rs1454105180
|
|
|
NM_032578.4(MYPN):c.602A>C (p.Asp201Ala)
|
rs754204322
|
|
|
NM_032578.4(MYPN):c.614G>A (p.Arg205Lys)
|
rs2133995521
|
|
|
NM_032578.4(MYPN):c.617G>A (p.Arg206Gln)
|
|
|
|
NM_032578.4(MYPN):c.625TCT[1] (p.Ser210del)
|
rs749944961
|
|
|
NM_032578.4(MYPN):c.634C>G (p.Pro212Ala)
|
|
|
|
NM_032578.4(MYPN):c.640C>G (p.Pro214Ala)
|
rs2133995680
|
|
|
NM_032578.4(MYPN):c.643A>G (p.Ile215Val)
|
|
|
|
NM_032578.4(MYPN):c.644T>A (p.Ile215Asn)
|
rs1369263795
|
|
|
NM_032578.4(MYPN):c.649G>A (p.Ala217Thr)
|
rs2133995746
|
|
|
NM_032578.4(MYPN):c.650C>A (p.Ala217Glu)
|
rs199476403
|
|
|
NM_032578.4(MYPN):c.662A>G (p.Asp221Gly)
|
rs185841477
|
|
|
NM_032578.4(MYPN):c.662A>T (p.Asp221Val)
|
rs185841477
|
|
|
NM_032578.4(MYPN):c.671T>C (p.Val224Ala)
|
rs1554839341
|
|
|
NM_032578.4(MYPN):c.674A>G (p.Asn225Ser)
|
|
|
|
NM_032578.4(MYPN):c.680C>A (p.Ala227Asp)
|
rs148874991
|
|
|
NM_032578.4(MYPN):c.682C>G (p.Leu228Val)
|
|
|
|
NM_032578.4(MYPN):c.689A>C (p.Gln230Pro)
|
rs2042253320
|
|
|
NM_032578.4(MYPN):c.693G>C (p.Gln231His)
|
rs1188978880
|
|
|
NM_032578.4(MYPN):c.701A>G (p.Lys234Arg)
|
rs2133995953
|
|
|
NM_032578.4(MYPN):c.702G>C (p.Lys234Asn)
|
rs1589529109
|
|
|
NM_032578.4(MYPN):c.711A>C (p.Glu237Asp)
|
|
|
|
NM_032578.4(MYPN):c.716_736dup (p.Ala245_Ala246insGluGlnAlaAlaSerGluAla)
|
|
|
|
NM_032578.4(MYPN):c.718C>G (p.Gln240Glu)
|
rs1438075413
|
|
|
NM_032578.4(MYPN):c.719A>G (p.Gln240Arg)
|
|
|
|
NM_032578.4(MYPN):c.71C>A (p.Thr24Asn)
|
rs2133993354
|
|
|
NM_032578.4(MYPN):c.720G>C (p.Gln240His)
|
rs2042254307
|
|
|
NM_032578.4(MYPN):c.724G>A (p.Ala242Thr)
|
rs779283631
|
|
|
NM_032578.4(MYPN):c.729T>G (p.Ser243Arg)
|
rs794727304
|
|
|
NM_032578.4(MYPN):c.740G>C (p.Gly247Ala)
|
rs1250584637
|
|
|
NM_032578.4(MYPN):c.746A>G (p.Asp249Gly)
|
|
|
|
NM_032578.4(MYPN):c.746A>T (p.Asp249Val)
|
rs2042254891
|
|
|
NM_032578.4(MYPN):c.767C>A (p.Pro256His)
|
rs2042255659
|
|
|
NM_032578.4(MYPN):c.772T>C (p.Ser258Pro)
|
rs1403261361
|
|
|
NM_032578.4(MYPN):c.785A>G (p.Glu262Gly)
|
rs876657924
|
|
|
NM_032578.4(MYPN):c.794T>C (p.Leu265Pro)
|
rs766534329
|
|
|
NM_032578.4(MYPN):c.826C>G (p.Arg276Gly)
|
rs745678026
|
|
|
NM_032578.4(MYPN):c.839T>G (p.Val280Gly)
|
rs2042257341
|
|
|
NM_032578.4(MYPN):c.845_847del (p.Glu282del)
|
rs2042257518
|
|
|
NM_032578.4(MYPN):c.883A>T (p.Ile295Phe)
|
rs1554839439
|
|
|
NM_032578.4(MYPN):c.896A>C (p.Gln299Pro)
|
|
|
|
NM_032578.4(MYPN):c.898G>A (p.Val300Ile)
|
rs1254052635
|
|
|
NM_032578.4(MYPN):c.917G>A (p.Gly306Asp)
|
rs780873354
|
|
|
NM_032578.4(MYPN):c.925C>G (p.Leu309Val)
|
rs747665161
|
|
|
NM_032578.4(MYPN):c.946C>A (p.His316Asn)
|
rs2134066274
|
|
|
NM_032578.4(MYPN):c.964A>T (p.Asn322Tyr)
|
rs1060503576
|
|
|
NM_032578.4(MYPN):c.992C>G (p.Ala331Gly)
|
rs2134066513
|
|
|
NM_033071.3(SYNE1):c.17995_17997delGAG
|
|
|
|
NM_033118.4(MYLK2):c.1000A>G (p.Met334Val)
|
|
|
|
NM_033118.4(MYLK2):c.1006C>G (p.Gln336Glu)
|
rs2123134566
|
|
|
NM_033118.4(MYLK2):c.1018C>A (p.Arg340Ser)
|
|
|
|
NM_033118.4(MYLK2):c.1055C>T (p.Pro352Leu)
|
|
|
|
NM_033118.4(MYLK2):c.105C>A (p.Asp35Glu)
|
rs551492045
|
|
|
NM_033118.4(MYLK2):c.1076T>C (p.Met359Thr)
|
|
|
|
NM_033118.4(MYLK2):c.1104C>A (p.Phe368Leu)
|
rs6089088
|
|
|
NM_033118.4(MYLK2):c.110G>A (p.Gly37Asp)
|
|
|
|
NM_033118.4(MYLK2):c.1137C>A (p.Thr379=)
|
rs759608229
|
|
|
NM_033118.4(MYLK2):c.1138G>A (p.Glu380Lys)
|
rs1174826293
|
|
|
NM_033118.4(MYLK2):c.113C>A (p.Pro38His)
|
|
|
|
NM_033118.4(MYLK2):c.1147A>G (p.Thr383Ala)
|
|
|
|
NM_033118.4(MYLK2):c.1148C>T (p.Thr383Ile)
|
|
|
|
NM_033118.4(MYLK2):c.1258C>T (p.His420Tyr)
|
|
|
|
NM_033118.4(MYLK2):c.1270A>T (p.Ile424Phe)
|
|
|
|
NM_033118.4(MYLK2):c.1282G>T (p.Gly428Cys)
|
rs2123139554
|
|
|
NM_033118.4(MYLK2):c.1295+14G>A
|
rs760629458
|
|
|
NM_033118.4(MYLK2):c.1301A>G (p.Asn434Ser)
|
|
|
|
NM_033118.4(MYLK2):c.1309G>A (p.Glu437Lys)
|
|
|
|
NM_033118.4(MYLK2):c.1334C>T (p.Thr445Ile)
|
|
|
|
NM_033118.4(MYLK2):c.1354G>C (p.Glu452Gln)
|
rs2062304072
|
|
|
NM_033118.4(MYLK2):c.1360G>T (p.Val454Leu)
|
rs1555790622
|
|
|
NM_033118.4(MYLK2):c.1367A>G (p.Tyr456Cys)
|
|
|
|
NM_033118.4(MYLK2):c.1395G>A (p.Met465Ile)
|
|
|
|
NM_033118.4(MYLK2):c.1405G>C (p.Gly469Arg)
|
rs1568634635
|
|
|
NM_033118.4(MYLK2):c.1417T>C (p.Tyr473His)
|
|
|
|
NM_033118.4(MYLK2):c.1424+6C>G
|
|
|
|
NM_033118.4(MYLK2):c.1425-6C>A
|
rs200234935
|
|
|
NM_033118.4(MYLK2):c.1432G>A (p.Gly478Ser)
|
|
|
|
NM_033118.4(MYLK2):c.1438T>C (p.Ser480Pro)
|
|
|
|
NM_033118.4(MYLK2):c.143C>T (p.Pro48Leu)
|
|
|
|
NM_033118.4(MYLK2):c.145A>C (p.Thr49Pro)
|
|
|
|
NM_033118.4(MYLK2):c.1465G>A (p.Glu489Lys)
|
rs2123140758
|
|
|
NM_033118.4(MYLK2):c.1495T>A (p.Trp499Arg)
|
rs1279963761
|
|
|
NM_033118.4(MYLK2):c.1495T>C (p.Trp499Arg)
|
rs1279963761
|
|
|
NM_033118.4(MYLK2):c.1496G>A (p.Trp499Ter)
|
|
|
|
NM_033118.4(MYLK2):c.1499A>G (p.Tyr500Cys)
|
rs974471969
|
|
|
NM_033118.4(MYLK2):c.14dup (p.Asn5fs)
|
rs1251172824
|
|
|
NM_033118.4(MYLK2):c.1506T>A (p.Asp502Glu)
|
rs2123140854
|
|
|
NM_033118.4(MYLK2):c.1510G>C (p.Glu504Gln)
|
|
|
|
NM_033118.4(MYLK2):c.1514C>G (p.Thr505Ser)
|
rs144359857
|
|
|
NM_033118.4(MYLK2):c.1514C>T (p.Thr505Ile)
|
rs144359857
|
|
|
NM_033118.4(MYLK2):c.1538C>A (p.Ala513Asp)
|
|
|
|
NM_033118.4(MYLK2):c.1543G>T (p.Asp515Tyr)
|
rs2062307963
|
|
|
NM_033118.4(MYLK2):c.1546T>A (p.Phe516Ile)
|
rs2062307970
|
|
|
NM_033118.4(MYLK2):c.1564G>A (p.Val522Ile)
|
rs747657397
|
|
|
NM_033118.4(MYLK2):c.1591G>A (p.Ala531Thr)
|
|
|
|
NM_033118.4(MYLK2):c.1598A>G (p.Gln533Arg)
|
|
|
|
NM_033118.4(MYLK2):c.1613C>T (p.Pro538Leu)
|
rs1600414450
|
|
|
NM_033118.4(MYLK2):c.161C>T (p.Ala54Val)
|
|
|
|
NM_033118.4(MYLK2):c.1628_1641del (p.Leu543fs)
|
|
|
|
NM_033118.4(MYLK2):c.162_163insT (p.Lys55Ter)
|
|
|
|
NM_033118.4(MYLK2):c.1646G>A (p.Arg549His)
|
|
|
|
NM_033118.4(MYLK2):c.1651A>G (p.Asn551Asp)
|
|
|
|
NM_033118.4(MYLK2):c.1654C>T (p.Arg552Ter)
|
|
|
|
NM_033118.4(MYLK2):c.1690C>T (p.Leu564Phe)
|
|
|
|
NM_033118.4(MYLK2):c.1697A>G (p.Lys566Arg)
|
rs1342901282
|
|
|
NM_033118.4(MYLK2):c.1699A>G (p.Arg567Gly)
|
rs1600414546
|
|
|
NM_033118.4(MYLK2):c.1726G>A (p.Val576Ile)
|
rs1288571285
|
|
|
NM_033118.4(MYLK2):c.172G>A (p.Ala58Thr)
|
rs2123125941
|
|
|
NM_033118.4(MYLK2):c.1748AGA[1] (p.Lys584del)
|
rs774851606
|
|
|
NM_033118.4(MYLK2):c.1765G>A (p.Gly589Arg)
|
|
|
|
NM_033118.4(MYLK2):c.1771_*12del (p.Leu591_Ter597del)
|
|
|
|
NM_033118.4(MYLK2):c.1774A>G (p.Met592Val)
|
|
|
|
NM_033118.4(MYLK2):c.1783G>C (p.Gly595Arg)
|
rs2062319327
|
|
|
NM_033118.4(MYLK2):c.1784G>A (p.Gly595Glu)
|
rs2062319347
|
|
|
NM_033118.4(MYLK2):c.17G>A (p.Gly6Glu)
|
rs2062241270
|
|
|
NM_033118.4(MYLK2):c.187G>A (p.Asp63Asn)
|
rs779321042
|
|
|
NM_033118.4(MYLK2):c.187G>T (p.Asp63Tyr)
|
rs779321042
|
|
|
NM_033118.4(MYLK2):c.205C>T (p.Pro69Ser)
|
rs886056576
|
|
|
NM_033118.4(MYLK2):c.208T>A (p.Ser70Thr)
|
|
|
|
NM_033118.4(MYLK2):c.224G>A (p.Gly75Asp)
|
|
|
|
NM_033118.4(MYLK2):c.243C>G (p.Asp81Glu)
|
|
|
|
NM_033118.4(MYLK2):c.244_245del (p.Arg82fs)
|
rs751701199
|
|
|
NM_033118.4(MYLK2):c.253G>A (p.Gly85Arg)
|
|
|
|
NM_033118.4(MYLK2):c.255del (p.Ala87fs)
|
|
|
|
NM_033118.4(MYLK2):c.335A>G (p.Lys112Arg)
|
rs2123126349
|
|
|
NM_033118.4(MYLK2):c.365A>T (p.Asp122Val)
|
|
|
|
NM_033118.4(MYLK2):c.371G>A (p.Gly124Glu)
|
rs772970924
|
|
|
NM_033118.4(MYLK2):c.381G>C (p.Arg127Ser)
|
|
|
|
NM_033118.4(MYLK2):c.391A>G (p.Lys131Glu)
|
rs1555789906
|
|
|
NM_033118.4(MYLK2):c.393_407dup (p.Glu134_Ala138dup)
|
rs2123126489
|
|
|
NM_033118.4(MYLK2):c.395C>T (p.Ala132Val)
|
|
|
|
NM_033118.4(MYLK2):c.402G>T (p.Glu134Asp)
|
rs768092962
|
|
|
NM_033118.4(MYLK2):c.403G>A (p.Gly135Ser)
|
rs750838459
|
|
|
NM_033118.4(MYLK2):c.403G>C (p.Gly135Arg)
|
|
|
|
NM_033118.4(MYLK2):c.430C>T (p.Pro144Ser)
|
|
|
|
NM_033118.4(MYLK2):c.433G>C (p.Ala145Pro)
|
|
|
|
NM_033118.4(MYLK2):c.453C>G (p.Ser151Arg)
|
rs1600407268
|
|
|
NM_033118.4(MYLK2):c.470C>T (p.Ser157Phe)
|
rs2062247649
|
|
|
NM_033118.4(MYLK2):c.473+11_473+12delinsAG
|
|
|
|
NM_033118.4(MYLK2):c.473+1G>A
|
rs2062247669
|
|
|
NM_033118.4(MYLK2):c.50C>T (p.Thr17Ile)
|
rs192056427
|
|
|
NM_033118.4(MYLK2):c.514_603del (p.Ser172_Ala201del)
|
rs2123127709
|
|
|
NM_033118.4(MYLK2):c.52+14G>T
|
|
|
|
NM_033118.4(MYLK2):c.52+19A>T
|
|
|
|
NM_033118.4(MYLK2):c.520C>T (p.Leu174Phe)
|
rs2123127754
|
|
|
NM_033118.4(MYLK2):c.523A>G (p.Thr175Ala)
|
rs2123127764
|
|
|
NM_033118.4(MYLK2):c.550A>G (p.Ser184Gly)
|
|
|
|
NM_033118.4(MYLK2):c.56A>G (p.Lys19Arg)
|
rs1060500984
|
|
|
NM_033118.4(MYLK2):c.572C>A (p.Ala191Asp)
|
|
|
|
NM_033118.4(MYLK2):c.576G>C (p.Lys192Asn)
|
|
|
|
NM_033118.4(MYLK2):c.591G>T (p.Lys197Asn)
|
|
|
|
NM_033118.4(MYLK2):c.611A>G (p.Gln204Arg)
|
rs2062252352
|
|
|
NM_033118.4(MYLK2):c.620T>G (p.Val207Gly)
|
|
|
|
NM_033118.4(MYLK2):c.632C>A (p.Thr211Asn)
|
|
|
|
NM_033118.4(MYLK2):c.637GGCCAGGCT[1] (p.213GQA[1])
|
|
|
|
NM_033118.4(MYLK2):c.637GGCCAGGCT[3] (p.213GQA[3])
|
rs2062252502
|
|
|
NM_033118.4(MYLK2):c.658A>G (p.Met220Val)
|
|
|
|
NM_033118.4(MYLK2):c.674C>T (p.Ser225Leu)
|
|
|
|
NM_033118.4(MYLK2):c.683T>C (p.Ile228Thr)
|
rs1060500985
|
|
|
NM_033118.4(MYLK2):c.706G>C (p.Glu236Gln)
|
|
|
|
NM_033118.4(MYLK2):c.716A>C (p.Glu239Ala)
|
|
|
|
NM_033118.4(MYLK2):c.722G>C (p.Gly241Ala)
|
|
|
|
NM_033118.4(MYLK2):c.74C>T (p.Thr25Ile)
|
rs1183127391
|
|
|
NM_033118.4(MYLK2):c.773-19G>T
|
rs914355976
|
|
|
NM_033118.4(MYLK2):c.773-3C>T
|
|
|
|
NM_033118.4(MYLK2):c.773A>T (p.Asp258Val)
|
rs2123130394
|
|
|
NM_033118.4(MYLK2):c.803C>T (p.Pro268Leu)
|
rs372639122
|
|
|
NM_033118.4(MYLK2):c.809G>A (p.Arg270His)
|
rs146485342
|
|
|
NM_033118.4(MYLK2):c.809G>T (p.Arg270Leu)
|
rs146485342
|
|
|
NM_033118.4(MYLK2):c.816G>A (p.Val272=)
|
rs1405030492
|
|
|
NM_033118.4(MYLK2):c.827C>G (p.Thr276Ser)
|
|
|
|
NM_033118.4(MYLK2):c.852_870dup (p.Leu291fs)
|
rs2123130570
|
|
|
NM_033118.4(MYLK2):c.85C>A (p.Pro29Thr)
|
|
|
|
NM_033118.4(MYLK2):c.862A>G (p.Lys288Glu)
|
|
|
|
NM_033118.4(MYLK2):c.866A>C (p.Glu289Ala)
|
|
|
|
NM_033118.4(MYLK2):c.872T>C (p.Leu291Pro)
|
|
|
|
NM_033118.4(MYLK2):c.94G>T (p.Ala32Ser)
|
|
|
|
NM_033118.4(MYLK2):c.95C>T (p.Ala32Val)
|
|
|
|
NM_033118.4(MYLK2):c.96_97delinsCC (p.Gly33Arg)
|
rs1568626448
|
|
|
NM_033118.4(MYLK2):c.976A>G (p.Met326Val)
|
rs2062280681
|
|
|
NM_033118.4(MYLK2):c.978G>A (p.Met326Ile)
|
|
|
|
NM_033118.4(MYLK2):c.97G>T (p.Gly33Trp)
|
|
|
|
NM_033118.4(MYLK2):c.989A>G (p.Glu330Gly)
|
|
|
|
NM_033118.4(MYLK2):c.99G>T (p.Gly33=)
|
|
|
|
NM_133378.4(TTN):c.10361-1262dup
|
rs876657673
|
|
|
NM_133378.4(TTN):c.37385_37387delAAG
|
rs759525338
|
|
|
NM_144573.3(NEXN):c.2026_*1del
|
rs794729094
|
|
|
NM_144573.4(NEXN):c.1012G>C (p.Glu338Gln)
|
|
|
|
NM_144573.4(NEXN):c.1030T>G (p.Phe344Val)
|
|
|
|
NM_144573.4(NEXN):c.1049A>G (p.Asn350Ser)
|
|
|
|
NM_144573.4(NEXN):c.1055T>C (p.Val352Ala)
|
rs1040085867
|
|
|
NM_144573.4(NEXN):c.1057G>A (p.Val353Ile)
|
rs982964498
|
|
|
NM_144573.4(NEXN):c.106G>A (p.Glu36Lys)
|
|
|
|
NM_144573.4(NEXN):c.1073C>T (p.Pro358Leu)
|
rs755252743
|
|
|
NM_144573.4(NEXN):c.1084A>C (p.Lys362Gln)
|
|
|
|
NM_144573.4(NEXN):c.1088C>T (p.Thr363Ile)
|
|
|
|
NM_144573.4(NEXN):c.1111C>A (p.Pro371Thr)
|
rs1223883098
|
|
|
NM_144573.4(NEXN):c.1112C>A (p.Pro371Gln)
|
|
|
|
NM_144573.4(NEXN):c.1112C>T (p.Pro371Leu)
|
rs200067011
|
|
|
NM_144573.4(NEXN):c.1113G>A (p.Pro371=)
|
|
|
|
NM_144573.4(NEXN):c.1162G>A (p.Glu388Lys)
|
|
|
|
NM_144573.4(NEXN):c.1175G>C (p.Arg392Pro)
|
rs971313210
|
|
|
NM_144573.4(NEXN):c.1195C>A (p.His399Asn)
|
rs779417583
|
|
|
NM_144573.4(NEXN):c.1242A>C (p.Glu414Asp)
|
|
|
|
NM_144573.4(NEXN):c.1321G>T (p.Gly441Cys)
|
rs1650716200
|
|
|
NM_144573.4(NEXN):c.1322G>A (p.Gly441Asp)
|
rs2102155386
|
|
|
NM_144573.4(NEXN):c.134G>T (p.Arg45Ile)
|
rs946271161
|
|
|
NM_144573.4(NEXN):c.1374G>T (p.Leu458Phe)
|
|
|
|
NM_144573.4(NEXN):c.1401AGA[2] (p.Glu470del)
|
rs397517846
|
|
|
NM_144573.4(NEXN):c.1412G>A (p.Arg471Gln)
|
rs746761862
|
|
|
NM_144573.4(NEXN):c.1416AAG[1] (p.Arg475del)
|
rs794729091
|
|
|
NM_144573.4(NEXN):c.1422G>C (p.Arg474Ser)
|
rs775204901
|
|
|
NM_144573.4(NEXN):c.1429A>G (p.Ile477Val)
|
rs1553240667
|
|
|
NM_144573.4(NEXN):c.1451G>A (p.Arg484Gln)
|
rs1342442796
|
|
|
NM_144573.4(NEXN):c.1457C>G (p.Ala486Gly)
|
rs397517847
|
|
|
NM_144573.4(NEXN):c.1473+1G>T
|
rs1177977536
|
|
|
NM_144573.4(NEXN):c.1477G>A (p.Asp493Asn)
|
rs1553241790
|
|
|
NM_144573.4(NEXN):c.1525C>A (p.His509Asn)
|
|
|
|
NM_144573.4(NEXN):c.1535_1537dup (p.Asn512_Met513insAsn)
|
|
|
|
NM_144573.4(NEXN):c.1568C>T (p.Ala523Val)
|
|
|
|
NM_144573.4(NEXN):c.156C>A (p.Asp52Glu)
|
rs371431782
|
|
|
NM_144573.4(NEXN):c.1573GAA[3] (p.Glu528del)
|
rs764505909
|
|
|
NM_144573.4(NEXN):c.1585_1594del (p.Gln529fs)
|
|
|
|
NM_144573.4(NEXN):c.1589GAA[1] (p.Arg531del)
|
rs754350672
|
|
|
NM_144573.4(NEXN):c.1606_1607del (p.Lys536fs)
|
rs1394704286
|
|
|
NM_144573.4(NEXN):c.1659+2T>C
|
|
|
|
NM_144573.4(NEXN):c.1659G>C (p.Lys553Asn)
|
|
|
|
NM_144573.4(NEXN):c.1660A>G (p.Lys554Glu)
|
rs1651445147
|
|
|
NM_144573.4(NEXN):c.1661A>G (p.Lys554Arg)
|
rs1651445427
|
|
|
NM_144573.4(NEXN):c.1671GGA[3] (p.Glu562del)
|
rs397517848
|
|
|
NM_144573.4(NEXN):c.1671GGA[5] (p.Glu562dup)
|
rs397517848
|
|
|
NM_144573.4(NEXN):c.1678G>A (p.Glu560Lys)
|
rs377257742
|
|
|
NM_144573.4(NEXN):c.167GAA[1] (p.Arg57del)
|
rs1435048653
|
|
|
NM_144573.4(NEXN):c.1682AAG[1] (p.Glu562del)
|
rs1228931205
|
|
|
NM_144573.4(NEXN):c.1697T>C (p.Met566Thr)
|
rs369894742
|
|
|
NM_144573.4(NEXN):c.1753AAG[1] (p.Lys586del)
|
rs397517851
|
|
|
NM_144573.4(NEXN):c.176A>G (p.Glu59Gly)
|
rs1219781969
|
|
|
NM_144573.4(NEXN):c.1789G>A (p.Glu597Lys)
|
|
|
|
NM_144573.4(NEXN):c.1820_1822del (p.Gly607del)
|
rs876657928
|
|
|
NM_144573.4(NEXN):c.1829A>G (p.Lys610Arg)
|
|
|
|
NM_144573.4(NEXN):c.1835A>G (p.Glu612Gly)
|
rs2102181361
|
|
|
NM_144573.4(NEXN):c.1852G>A (p.Glu618Lys)
|
rs1060502321
|
|
|
NM_144573.4(NEXN):c.1867C>G (p.Gln623Glu)
|
|
|
|
NM_144573.4(NEXN):c.1877A>G (p.Glu626Gly)
|
rs1571175641
|
|
|
NM_144573.4(NEXN):c.1886A>G (p.Gln629Arg)
|
|
|
|
NM_144573.4(NEXN):c.1901_1904delinsTCT (p.Gly634fs)
|
rs1553242300
|
|
|
NM_144573.4(NEXN):c.190G>C (p.Glu64Gln)
|
rs2102092407
|
|
|
NM_144573.4(NEXN):c.1911C>A (p.Tyr637Ter)
|
rs772833406
|
|
|
NM_144573.4(NEXN):c.1918_1922del (p.Tyr640fs)
|
rs1222794437
|
|
|
NM_144573.4(NEXN):c.1928A>C (p.Glu643Ala)
|
rs1651487390
|
|
|
NM_144573.4(NEXN):c.1930del (p.Thr644fs)
|
|
|
|
NM_144573.4(NEXN):c.1943A>G (p.Asp648Gly)
|
rs754430866
|
|
|
NM_144573.4(NEXN):c.1946GAG[1] (p.Gly650del)
|
rs397517853
|
|
|
NM_144573.4(NEXN):c.1951G>A (p.Glu651Lys)
|
rs1211415757
|
|
|
NM_144573.4(NEXN):c.1959G>A (p.Met653Ile)
|
|
|
|
NM_144573.4(NEXN):c.2008A>T (p.Thr670Ser)
|
rs1571176371
|
|
|
NM_144573.4(NEXN):c.2017A>G (p.Ser673Gly)
|
rs1651500018
|
|
|
NM_144573.4(NEXN):c.244G>A (p.Asp82Asn)
|
rs199720912
|
|
|
NM_144573.4(NEXN):c.244G>C (p.Asp82His)
|
rs199720912
|
|
|
NM_144573.4(NEXN):c.247G>A (p.Glu83Lys)
|
|
|
|
NM_144573.4(NEXN):c.277G>C (p.Ala93Pro)
|
rs1256690084
|
|
|
NM_144573.4(NEXN):c.314G>C (p.Arg105Thr)
|
|
|
|
NM_144573.4(NEXN):c.335A>G (p.Gln112Arg)
|
rs2764942
|
|
|
NM_144573.4(NEXN):c.345G>T (p.Glu115Asp)
|
|
|
|
NM_144573.4(NEXN):c.362C>A (p.Thr121Lys)
|
|
|
|
NM_144573.4(NEXN):c.362C>T (p.Thr121Met)
|
|
|
|
NM_144573.4(NEXN):c.392A>C (p.Gln131Pro)
|
rs397517858
|
|
|
NM_144573.4(NEXN):c.416T>C (p.Ile139Thr)
|
|
|
|
NM_144573.4(NEXN):c.419A>G (p.Gln140Arg)
|
|
|
|
NM_144573.4(NEXN):c.431C>T (p.Ala144Val)
|
rs767335232
|
|
|
NM_144573.4(NEXN):c.467C>T (p.Thr156Met)
|
|
|
|
NM_144573.4(NEXN):c.47A>C (p.Lys16Thr)
|
|
|
|
NM_144573.4(NEXN):c.491A>G (p.Glu164Gly)
|
rs1553238441
|
|
|
NM_144573.4(NEXN):c.524C>G (p.Pro175Arg)
|
|
|
|
NM_144573.4(NEXN):c.55C>T (p.Pro19Ser)
|
rs199981645
|
|
|
NM_144573.4(NEXN):c.586_591del (p.Arg196_Glu197del)
|
|
|
|
NM_144573.4(NEXN):c.616G>A (p.Glu206Lys)
|
rs370428679
|
|
|
NM_144573.4(NEXN):c.643C>G (p.Gln215Glu)
|
rs1557981819
|
|
|
NM_144573.4(NEXN):c.687+6T>A
|
|
|
|
NM_144573.4(NEXN):c.696A>T (p.Glu232Asp)
|
rs1173550376
|
|
|
NM_144573.4(NEXN):c.730C>T (p.Pro244Ser)
|
|
|
|
NM_144573.4(NEXN):c.749C>G (p.Thr250Ser)
|
rs1649881678
|
|
|
NM_144573.4(NEXN):c.752T>G (p.Phe251Cys)
|
rs554389574
|
|
|
NM_144573.4(NEXN):c.761T>C (p.Leu254Pro)
|
|
|
|
NM_144573.4(NEXN):c.785G>A (p.Arg262Gln)
|
rs369941497
|
|
|
NM_144573.4(NEXN):c.790A>C (p.Lys264Gln)
|
rs752321632
|
|
|
NM_144573.4(NEXN):c.793C>A (p.Gln265Lys)
|
rs761106568
|
|
|
NM_144573.4(NEXN):c.794A>C (p.Gln265Pro)
|
rs1649888139
|
|
|
NM_144573.4(NEXN):c.7_9del (p.Asp3del)
|
rs760463744
|
|
|
NM_144573.4(NEXN):c.802G>C (p.Glu268Gln)
|
|
|
|
NM_144573.4(NEXN):c.803A>G (p.Glu268Gly)
|
|
|
|
NM_144573.4(NEXN):c.848A>T (p.Glu283Val)
|
rs374691663
|
|
|
NM_144573.4(NEXN):c.889G>C (p.Asp297His)
|
rs1650107233
|
|
|
NM_144573.4(NEXN):c.910G>C (p.Gly304Arg)
|
rs1650108809
|
|
|
NM_144573.4(NEXN):c.919C>A (p.Pro307Thr)
|
|
|
|
NM_144573.4(NEXN):c.934C>T (p.Leu312Phe)
|
|
|
|
NM_144573.4(NEXN):c.935T>A (p.Leu312His)
|
rs2102133294
|
|
|
NM_144573.4(NEXN):c.946G>A (p.Glu316Lys)
|
rs2102133320
|
|
|
NM_144573.4(NEXN):c.989A>C (p.Glu330Ala)
|
rs1650118976
|
|
|
NM_144573.4(NEXN):c.989AAG[2] (p.Glu332del)
|
rs727505124
|
|
|
NM_145046.5(CALR3):c.-13_5del (p.Met1_Ala2del)
|
rs2122155319
|
|
|
NM_145046.5(CALR3):c.1013G>T (p.Gly338Val)
|
|
|
|
NM_145046.5(CALR3):c.1036A>G (p.Ile346Val)
|
|
|
|
NM_145046.5(CALR3):c.1043C>A (p.Ala348Asp)
|
|
|
|
NM_145046.5(CALR3):c.1058A>G (p.Lys353Arg)
|
|
|
|
NM_145046.5(CALR3):c.1064C>T (p.Ala355Val)
|
|
|
|
NM_145046.5(CALR3):c.1067G>A (p.Arg356His)
|
rs140290452
|
|
|
NM_145046.5(CALR3):c.1114G>A (p.Glu372Lys)
|
rs140440387
|
|
|
NM_145046.5(CALR3):c.1114G>T (p.Glu372Ter)
|
|
|
|
NM_145046.5(CALR3):c.1120T>G (p.Tyr374Asp)
|
rs1555775532
|
|
|
NM_145046.5(CALR3):c.1129C>A (p.Gln377Lys)
|
|
|
|
NM_145046.5(CALR3):c.1129_1132del (p.Gln377fs)
|
rs1426645883
|
|
|
NM_145046.5(CALR3):c.1131A>G (p.Gln377=)
|
rs767040811
|
|
|
NM_145046.5(CALR3):c.1134T>A (p.Phe378Leu)
|
|
|
|
NM_145046.5(CALR3):c.142C>T (p.His48Tyr)
|
|
|
|
NM_145046.5(CALR3):c.158C>T (p.Ser53Leu)
|
rs2122154073
|
|
|
NM_145046.5(CALR3):c.163A>G (p.Lys55Glu)
|
|
|
|
NM_145046.5(CALR3):c.181G>A (p.Glu61Lys)
|
rs1060502978
|
|
|
NM_145046.5(CALR3):c.192dup (p.Gly65fs)
|
rs1430239846
|
|
|
NM_145046.5(CALR3):c.193+1del
|
|
|
|
NM_145046.5(CALR3):c.194-3A>G
|
|
|
|
NM_145046.5(CALR3):c.1A>G (p.Met1Val)
|
|
|
|
NM_145046.5(CALR3):c.1A>T (p.Met1Leu)
|
rs776813962
|
|
|
NM_145046.5(CALR3):c.212A>G (p.Asn71Ser)
|
|
|
|
NM_145046.5(CALR3):c.217C>T (p.Arg73Ter)
|
|
|
|
NM_145046.5(CALR3):c.226G>A (p.Ala76Thr)
|
rs2122142920
|
|
|
NM_145046.5(CALR3):c.231del (p.Ser78fs)
|
|
|
|
NM_145046.5(CALR3):c.238C>T (p.Arg80Cys)
|
|
|
|
NM_145046.5(CALR3):c.248C>T (p.Pro83Leu)
|
|
|
|
NM_145046.5(CALR3):c.274G>A (p.Val92Ile)
|
rs776598394
|
|
|
NM_145046.5(CALR3):c.286A>G (p.Thr96Ala)
|
|
|
|
NM_145046.5(CALR3):c.293A>G (p.Lys98Arg)
|
|
|
|
NM_145046.5(CALR3):c.314G>C (p.Cys105Ser)
|
|
|
|
NM_145046.5(CALR3):c.349A>G (p.Ile117Val)
|
rs1209076661
|
|
|
NM_145046.5(CALR3):c.360G>T (p.Lys120Asn)
|
rs1599720904
|
|
|
NM_145046.5(CALR3):c.368A>C (p.Asn123Thr)
|
rs2093395920
|
|
|
NM_145046.5(CALR3):c.37A>G (p.Met13Val)
|
rs2093408003
|
|
|
NM_145046.5(CALR3):c.384C>G (p.Tyr128Ter)
|
rs2122142566
|
|
|
NM_145046.5(CALR3):c.38T>C (p.Met13Thr)
|
rs878855223
|
|
|
NM_145046.5(CALR3):c.39G>A (p.Met13Ile)
|
|
|
|
NM_145046.5(CALR3):c.39G>C (p.Met13Ile)
|
rs1022237662
|
|
|
NM_145046.5(CALR3):c.404A>G (p.Asp135Gly)
|
rs2093387443
|
|
|
NM_145046.5(CALR3):c.407T>C (p.Ile136Thr)
|
|
|
|
NM_145046.5(CALR3):c.418G>T (p.Asp140Tyr)
|
|
|
|
NM_145046.5(CALR3):c.421A>G (p.Ile141Val)
|
rs2122133603
|
|
|
NM_145046.5(CALR3):c.445C>T (p.His149Tyr)
|
rs2122133577
|
|
|
NM_145046.5(CALR3):c.452A>G (p.Lys151Arg)
|
rs1297452902
|
|
|
NM_145046.5(CALR3):c.466G>A (p.Glu156Lys)
|
rs1442412253
|
|
|
NM_145046.5(CALR3):c.466G>C (p.Glu156Gln)
|
|
|
|
NM_145046.5(CALR3):c.471C>T (p.Asn157=)
|
|
|
|
NM_145046.5(CALR3):c.476A>C (p.Lys159Thr)
|
rs2093387315
|
|
|
NM_145046.5(CALR3):c.493-1G>A
|
rs1599718289
|
|
|
NM_145046.5(CALR3):c.493-1G>T
|
rs1599718289
|
|
|
NM_145046.5(CALR3):c.517A>G (p.Thr173Ala)
|
|
|
|
NM_145046.5(CALR3):c.520_527del (p.Leu174fs)
|
rs2122131286
|
|
|
NM_145046.5(CALR3):c.535G>T (p.Asp179Tyr)
|
rs2122131270
|
|
|
NM_145046.5(CALR3):c.538C>A (p.Leu180Ile)
|
|
|
|
NM_145046.5(CALR3):c.587T>C (p.Ile196Thr)
|
|
|
|
NM_145046.5(CALR3):c.601A>C (p.Asn201His)
|
|
|
|
NM_145046.5(CALR3):c.602A>G (p.Asn201Ser)
|
rs1599718220
|
|
|
NM_145046.5(CALR3):c.608C>T (p.Thr203Ile)
|
|
|
|
NM_145046.5(CALR3):c.623A>C (p.Glu208Ala)
|
|
|
|
NM_145046.5(CALR3):c.626C>T (p.Thr209Met)
|
rs746871999
|
|
|
NM_145046.5(CALR3):c.641C>T (p.Ser214Leu)
|
rs550089146
|
|
|
NM_145046.5(CALR3):c.65A>G (p.Tyr22Cys)
|
|
|
|
NM_145046.5(CALR3):c.667A>G (p.Asn223Asp)
|
|
|
|
NM_145046.5(CALR3):c.674C>T (p.Ala225Val)
|
|
|
|
NM_145046.5(CALR3):c.676C>G (p.Gln226Glu)
|
|
|
|
NM_145046.5(CALR3):c.681C>A (p.Asp227Glu)
|
|
|
|
NM_145046.5(CALR3):c.703G>A (p.Ala235Thr)
|
rs2093383195
|
|
|
NM_145046.5(CALR3):c.710C>G (p.Thr237Ser)
|
rs1329331101
|
|
|
NM_145046.5(CALR3):c.714C>T (p.Ser238=)
|
rs2093383172
|
|
|
NM_145046.5(CALR3):c.723C>A (p.Ser241Arg)
|
rs753171373
|
|
|
NM_145046.5(CALR3):c.724G>C (p.Asp242His)
|
|
|
|
NM_145046.5(CALR3):c.728G>A (p.Trp243Ter)
|
rs1167634332
|
|
|
NM_145046.5(CALR3):c.743A>C (p.Asp248Ala)
|
|
|
|
NM_145046.5(CALR3):c.766C>T (p.Leu256Phe)
|
|
|
|
NM_145046.5(CALR3):c.770A>C (p.Gln257Pro)
|
|
|
|
NM_145046.5(CALR3):c.779C>T (p.Pro260Leu)
|
|
|
|
NM_145046.5(CALR3):c.833G>A (p.Arg278His)
|
rs1247489343
|
|
|
NM_145046.5(CALR3):c.852C>G (p.Asp284Glu)
|
|
|
|
NM_145046.5(CALR3):c.860C>T (p.Thr287Met)
|
|
|
|
NM_145046.5(CALR3):c.896C>T (p.Ala299Val)
|
|
|
|
NM_145046.5(CALR3):c.916C>A (p.Gln306Lys)
|
rs1599717443
|
|
|
NM_145046.5(CALR3):c.923G>A (p.Arg308Lys)
|
rs369518093
|
|
|
NM_145046.5(CALR3):c.941A>G (p.Asp314Gly)
|
|
|
|
NM_145046.5(CALR3):c.941A>T (p.Asp314Val)
|
rs1233176565
|
|
|
NM_145046.5(CALR3):c.973G>A (p.Ala325Thr)
|
|
|
|
NM_145046.5(CALR3):c.992C>T (p.Ala331Val)
|
|
|
|
NM_152594.3(SPRED1):c.101T>C (p.Leu34Pro)
|
|
|
|
NM_152594.3(SPRED1):c.1025T>A (p.Phe342Tyr)
|
rs1888483954
|
|
|
NM_152594.3(SPRED1):c.1027A>G (p.Asn343Asp)
|
|
|
|
NM_152594.3(SPRED1):c.1044_1045delinsCC (p.Val348_Arg349=)
|
|
|
|
NM_152594.3(SPRED1):c.1044_1045delinsCT (p.Arg349Trp)
|
|
|
|
NM_152594.3(SPRED1):c.104G>A (p.Gly35Glu)
|
|
|
|
NM_152594.3(SPRED1):c.1067C>A (p.Pro356Gln)
|
|
|
|
NM_152594.3(SPRED1):c.1076T>A (p.Ile359Asn)
|
rs763738243
|
|
|
NM_152594.3(SPRED1):c.1078A>G (p.Lys360Glu)
|
|
|
|
NM_152594.3(SPRED1):c.1087A>G (p.Ile363Val)
|
|
|
|
NM_152594.3(SPRED1):c.1089A>G (p.Ile363Met)
|
|
|
|
NM_152594.3(SPRED1):c.108G>T (p.Gly36=)
|
|
|
|
NM_152594.3(SPRED1):c.1096G>A (p.Val366Ile)
|
|
|
|
NM_152594.3(SPRED1):c.1103G>C (p.Cys368Ser)
|
rs2141016537
|
|
|
NM_152594.3(SPRED1):c.1109T>C (p.Leu370Pro)
|
rs2141016541
|
|
|
NM_152594.3(SPRED1):c.1119G>C (p.Glu373Asp)
|
|
|
|
NM_152594.3(SPRED1):c.1125G>A (p.Met375Ile)
|
|
|
|
NM_152594.3(SPRED1):c.1147T>C (p.Ser383Pro)
|
|
|
|
NM_152594.3(SPRED1):c.115C>G (p.Leu39Val)
|
rs1555389691
|
|
|
NM_152594.3(SPRED1):c.1163C>T (p.Ser388Phe)
|
rs1888487548
|
|
|
NM_152594.3(SPRED1):c.1172G>C (p.Cys391Ser)
|
|
|
|
NM_152594.3(SPRED1):c.1175C>T (p.Ser392Leu)
|
rs1345810751
|
|
|
NM_152594.3(SPRED1):c.1189G>A (p.Asp397Asn)
|
rs1888488545
|
|
|
NM_152594.3(SPRED1):c.118AGC[1] (p.Ser41del)
|
rs1895108139
|
|
|
NM_152594.3(SPRED1):c.1190A>G (p.Asp397Gly)
|
|
|
|
NM_152594.3(SPRED1):c.1199T>A (p.Phe400Tyr)
|
|
|
|
NM_152594.3(SPRED1):c.119G>C (p.Ser40Thr)
|
|
|
|
NM_152594.3(SPRED1):c.1208G>A (p.Arg403Gln)
|
rs772476060
|
|
|
NM_152594.3(SPRED1):c.1225G>A (p.Ala409Thr)
|
|
|
|
NM_152594.3(SPRED1):c.1225_1226delinsTT (p.Ala409Phe)
|
|
|
|
NM_152594.3(SPRED1):c.1232C>T (p.Ser411Phe)
|
|
|
|
NM_152594.3(SPRED1):c.1246T>C (p.Cys416Arg)
|
rs1888490204
|
|
|
NM_152594.3(SPRED1):c.1246T>G (p.Cys416Gly)
|
|
|
|
NM_152594.3(SPRED1):c.1271_1272del (p.Arg424fs)
|
|
|
|
NM_152594.3(SPRED1):c.1275G>A (p.Met425Ile)
|
|
|
|
NM_152594.3(SPRED1):c.1280A>G (p.His427Arg)
|
rs1888490898
|
|
|
NM_152594.3(SPRED1):c.1300G>T (p.Gly434Cys)
|
|
|
|
NM_152594.3(SPRED1):c.1307G>C (p.Cys436Ser)
|
|
|
|
NM_152594.3(SPRED1):c.1320_1321del (p.His440fs)
|
rs759838497
|
|
|
NM_152594.3(SPRED1):c.1327G>C (p.Ala443Pro)
|
|
|
|
NM_152594.3(SPRED1):c.135C>G (p.Phe45Leu)
|
rs1595733562
|
|
|
NM_152594.3(SPRED1):c.137A>G (p.Lys46Arg)
|
|
|
|
NM_152594.3(SPRED1):c.154G>A (p.Glu52Lys)
|
rs2140978504
|
|
|
NM_152594.3(SPRED1):c.156G>C (p.Glu52Asp)
|
|
|
|
NM_152594.3(SPRED1):c.160G>T (p.Gly54Cys)
|
|
|
|
NM_152594.3(SPRED1):c.161G>C (p.Gly54Ala)
|
|
|
|
NM_152594.3(SPRED1):c.161G>T (p.Gly54Val)
|
rs1895110134
|
|
|
NM_152594.3(SPRED1):c.164G>A (p.Cys55Tyr)
|
|
|
|
NM_152594.3(SPRED1):c.178A>G (p.Ile60Val)
|
rs761830220
|
|
|
NM_152594.3(SPRED1):c.17C>G (p.Ala6Gly)
|
rs1490356893
|
|
|
NM_152594.3(SPRED1):c.182G>T (p.Arg61Leu)
|
rs750686148
|
|
|
NM_152594.3(SPRED1):c.189G>T (p.Glu63Asp)
|
rs2140978555
|
|
|
NM_152594.3(SPRED1):c.207G>A (p.Met69Ile)
|
|
|
|
NM_152594.3(SPRED1):c.208-12G>A
|
|
|
|
NM_152594.3(SPRED1):c.20C>T (p.Thr7Ile)
|
|
|
|
NM_152594.3(SPRED1):c.221G>T (p.Cys74Phe)
|
rs1412213561
|
|
|
NM_152594.3(SPRED1):c.232A>G (p.Lys78Glu)
|
rs2140994773
|
|
|
NM_152594.3(SPRED1):c.235G>T (p.Asp79Tyr)
|
|
|
|
NM_152594.3(SPRED1):c.241A>G (p.Ile81Val)
|
|
|
|
NM_152594.3(SPRED1):c.25G>A (p.Asp9Asn)
|
|
|
|
NM_152594.3(SPRED1):c.270C>G (p.His90Gln)
|
rs773943895
|
|
|
NM_152594.3(SPRED1):c.274T>C (p.Trp92Arg)
|
rs1566867214
|
|
|
NM_152594.3(SPRED1):c.287A>C (p.Asp96Ala)
|
|
|
|
NM_152594.3(SPRED1):c.287A>G (p.Asp96Gly)
|
rs1555391039
|
|
|
NM_152594.3(SPRED1):c.28A>G (p.Asn10Asp)
|
|
|
|
NM_152594.3(SPRED1):c.299G>T (p.Gly100Val)
|
rs1555391048
|
|
|
NM_152594.3(SPRED1):c.29A>G (p.Asn10Ser)
|
rs1894018444
|
|
|
NM_152594.3(SPRED1):c.302T>C (p.Leu101Pro)
|
rs1595746820
|
|
|
NM_152594.3(SPRED1):c.302T>G (p.Leu101Arg)
|
rs1595746820
|
|
|
NM_152594.3(SPRED1):c.314G>T (p.Ser105Ile)
|
rs1895620929
|
|
|
NM_152594.3(SPRED1):c.315T>G (p.Ser105Arg)
|
rs1566867263
|
|
|
NM_152594.3(SPRED1):c.319G>A (p.Ala107Thr)
|
|
|
|
NM_152594.3(SPRED1):c.31G>A (p.Asp11Asn)
|
rs1445226319
|
|
|
NM_152594.3(SPRED1):c.32+3A>T
|
rs1894018882
|
|
|
NM_152594.3(SPRED1):c.350G>A (p.Arg117Gln)
|
|
|
|
NM_152594.3(SPRED1):c.353G>C (p.Arg118Thr)
|
rs373381933
|
|
|
NM_152594.3(SPRED1):c.355G>C (p.Ala119Pro)
|
rs2140994936
|
|
|
NM_152594.3(SPRED1):c.376+3A>G
|
|
|
|
NM_152594.3(SPRED1):c.376+4G>A
|
|
|
|
NM_152594.3(SPRED1):c.376+4G>C
|
|
|
|
NM_152594.3(SPRED1):c.376G>C (p.Gly126Arg)
|
rs2140994953
|
|
|
NM_152594.3(SPRED1):c.386A>T (p.Glu129Val)
|
|
|
|
NM_152594.3(SPRED1):c.395A>G (p.Asn132Ser)
|
rs1595748117
|
|
|
NM_152594.3(SPRED1):c.403G>C (p.Glu135Gln)
|
rs1595748136
|
|
|
NM_152594.3(SPRED1):c.410C>T (p.Ala137Val)
|
rs1355725873
|
|
|
NM_152594.3(SPRED1):c.421C>A (p.Gln141Lys)
|
rs1060502505
|
|
|
NM_152594.3(SPRED1):c.423+5G>A
|
rs1895679388
|
|
|
NM_152594.3(SPRED1):c.423+5_423+8del
|
rs1895679212
|
|
|
NM_152594.3(SPRED1):c.424-4A>G
|
rs1057518328
|
|
|
NM_152594.3(SPRED1):c.424G>T (p.Ala142Ser)
|
|
|
|
NM_152594.3(SPRED1):c.427A>G (p.Asn143Asp)
|
|
|
|
NM_152594.3(SPRED1):c.431A>G (p.Glu144Gly)
|
rs1895992409
|
|
|
NM_152594.3(SPRED1):c.440C>T (p.Ser147Phe)
|
|
|
|
NM_152594.3(SPRED1):c.445A>G (p.Ser149Gly)
|
rs2141007736
|
|
|
NM_152594.3(SPRED1):c.449C>A (p.Ser150Tyr)
|
|
|
|
NM_152594.3(SPRED1):c.451C>G (p.Leu151Val)
|
rs750421037
|
|
|
NM_152594.3(SPRED1):c.455T>C (p.Val152Ala)
|
rs1895993159
|
|
|
NM_152594.3(SPRED1):c.460G>T (p.Asp154Tyr)
|
rs1414327113
|
|
|
NM_152594.3(SPRED1):c.462_464dup (p.His155dup)
|
rs1895993278
|
|
|
NM_152594.3(SPRED1):c.46C>G (p.Arg16Gly)
|
|
|
|
NM_152594.3(SPRED1):c.47G>A (p.Arg16Gln)
|
|
|
|
NM_152594.3(SPRED1):c.47G>T (p.Arg16Leu)
|
|
|
|
NM_152594.3(SPRED1):c.480G>C (p.Glu160Asp)
|
|
|
|
NM_152594.3(SPRED1):c.487G>T (p.Val163Phe)
|
rs1895993694
|
|
|
NM_152594.3(SPRED1):c.493A>G (p.Ser165Gly)
|
rs1456920197
|
|
|
NM_152594.3(SPRED1):c.498G>C (p.Glu166Asp)
|
|
|
|
NM_152594.3(SPRED1):c.49G>A (p.Val17Met)
|
rs1895106351
|
|
|
NM_152594.3(SPRED1):c.508A>G (p.Ser170Gly)
|
|
|
|
NM_152594.3(SPRED1):c.517A>G (p.Ile173Val)
|
rs1060502504
|
|
|
NM_152594.3(SPRED1):c.519A>G (p.Ile173Met)
|
|
|
|
NM_152594.3(SPRED1):c.521G>T (p.Arg174Ile)
|
rs2141007899
|
|
|
NM_152594.3(SPRED1):c.526_528del (p.Ser176del)
|
rs763365429
|
|
|
NM_152594.3(SPRED1):c.527C>T (p.Ser176Phe)
|
rs1895995078
|
|
|
NM_152594.3(SPRED1):c.535G>A (p.Glu179Lys)
|
|
|
|
NM_152594.3(SPRED1):c.538G>T (p.Asp180Tyr)
|
rs1375474473
|
|
|
NM_152594.3(SPRED1):c.53G>T (p.Arg18Leu)
|
|
|
|
NM_152594.3(SPRED1):c.546T>A (p.Asn182Lys)
|
|
|
|
NM_152594.3(SPRED1):c.547G>A (p.Ala183Thr)
|
|
|
|
NM_152594.3(SPRED1):c.548C>A (p.Ala183Asp)
|
|
|
|
NM_152594.3(SPRED1):c.548C>T (p.Ala183Val)
|
|
|
|
NM_152594.3(SPRED1):c.553A>G (p.Arg185Gly)
|
|
|
|
NM_152594.3(SPRED1):c.556G>A (p.Val186Ile)
|
|
|
|
NM_152594.3(SPRED1):c.563T>C (p.Met188Thr)
|
|
|
|
NM_152594.3(SPRED1):c.564_565delinsAA (p.Met188_Gln189delinsIleLys)
|
|
|
|
NM_152594.3(SPRED1):c.567A>T (p.Gln189His)
|
|
|
|
NM_152594.3(SPRED1):c.56C>G (p.Ala19Gly)
|
rs968982670
|
|
|
NM_152594.3(SPRED1):c.574_582+14dup
|
|
|
|
NM_152594.3(SPRED1):c.582+4A>C
|
|
|
|
NM_152594.3(SPRED1):c.584T>A (p.Ile195Lys)
|
|
|
|
NM_152594.3(SPRED1):c.602G>T (p.Gly201Val)
|
|
|
|
NM_152594.3(SPRED1):c.605T>C (p.Leu202Ser)
|
rs1555392598
|
|
|
NM_152594.3(SPRED1):c.607G>A (p.Asp203Asn)
|
|
|
|
NM_152594.3(SPRED1):c.611T>C (p.Ile204Thr)
|
|
|
|
NM_152594.3(SPRED1):c.614A>G (p.Gln205Arg)
|
rs779879921
|
|
|
NM_152594.3(SPRED1):c.620G>C (p.Arg207Thr)
|
rs2141014869
|
|
|
NM_152594.3(SPRED1):c.630A>T (p.Glu210Asp)
|
rs2141014874
|
|
|
NM_152594.3(SPRED1):c.649T>G (p.Ser217Ala)
|
|
|
|
NM_152594.3(SPRED1):c.652A>G (p.Lys218Glu)
|
|
|
|
NM_152594.3(SPRED1):c.659G>A (p.Cys220Tyr)
|
rs1896209096
|
|
|
NM_152594.3(SPRED1):c.665G>A (p.Ser222Asn)
|
|
|
|
NM_152594.3(SPRED1):c.666C>A (p.Ser222Arg)
|
rs1896209442
|
|
|
NM_152594.3(SPRED1):c.668T>A (p.Leu223Gln)
|
|
|
|
NM_152594.3(SPRED1):c.677A>C (p.Gln226Pro)
|
|
|
|
NM_152594.3(SPRED1):c.684+5G>A
|
rs985085386
|
|
|
NM_152594.3(SPRED1):c.685-3_685-2insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTATCTGTTTCTTTTTT
|
|
|
|
NM_152594.3(SPRED1):c.685G>A (p.Val229Ile)
|
|
|
|
NM_152594.3(SPRED1):c.685G>T (p.Val229Phe)
|
rs201837340
|
|
|
NM_152594.3(SPRED1):c.689C>G (p.Pro230Arg)
|
rs2141016004
|
|
|
NM_152594.3(SPRED1):c.706C>T (p.His236Tyr)
|
|
|
|
NM_152594.3(SPRED1):c.734T>C (p.Ile245Thr)
|
|
|
|
NM_152594.3(SPRED1):c.747C>G (p.Asn249Lys)
|
rs1888472576
|
|
|
NM_152594.3(SPRED1):c.74A>G (p.Asp25Gly)
|
rs1057524159
|
|
|
NM_152594.3(SPRED1):c.758T>C (p.Ile253Thr)
|
|
|
|
NM_152594.3(SPRED1):c.758T>G (p.Ile253Ser)
|
|
|
|
NM_152594.3(SPRED1):c.766C>A (p.Arg256Ser)
|
rs1331443136
|
|
|
NM_152594.3(SPRED1):c.766C>T (p.Arg256Cys)
|
|
|
|
NM_152594.3(SPRED1):c.770G>A (p.Arg257His)
|
rs750832911
|
|
|
NM_152594.3(SPRED1):c.773A>G (p.Tyr258Cys)
|
rs2141016090
|
|
|
NM_152594.3(SPRED1):c.782A>G (p.Tyr261Cys)
|
|
|
|
NM_152594.3(SPRED1):c.796A>T (p.Met266Leu)
|
rs1340143366
|
|
|
NM_152594.3(SPRED1):c.798G>A (p.Met266Ile)
|
|
|
|
NM_152594.3(SPRED1):c.808G>T (p.Asp270Tyr)
|
|
|
|
NM_152594.3(SPRED1):c.82A>G (p.Ser28Gly)
|
rs2140978422
|
|
|
NM_152594.3(SPRED1):c.836G>A (p.Ser279Asn)
|
|
|
|
NM_152594.3(SPRED1):c.856G>A (p.Asp286Asn)
|
rs2141016195
|
|
|
NM_152594.3(SPRED1):c.867A>T (p.Lys289Asn)
|
|
|
|
NM_152594.3(SPRED1):c.872A>T (p.Asp291Val)
|
|
|
|
NM_152594.3(SPRED1):c.877C>G (p.Leu293Val)
|
|
|
|
NM_152594.3(SPRED1):c.881A>T (p.Tyr294Phe)
|
rs886051105
|
|
|
NM_152594.3(SPRED1):c.883T>C (p.Ser295Pro)
|
|
|
|
NM_152594.3(SPRED1):c.88G>A (p.Gly30Arg)
|
|
|
|
NM_152594.3(SPRED1):c.898A>G (p.Thr300Ala)
|
rs1888477050
|
|
|
NM_152594.3(SPRED1):c.89G>T (p.Gly30Val)
|
|
|
|
NM_152594.3(SPRED1):c.902A>C (p.Lys301Thr)
|
|
|
|
NM_152594.3(SPRED1):c.907A>C (p.Ser303Arg)
|
rs2141016279
|
|
|
NM_152594.3(SPRED1):c.908G>A (p.Ser303Asn)
|
|
|
|
NM_152594.3(SPRED1):c.916A>G (p.Lys306Glu)
|
rs1300035418
|
|
|
NM_152594.3(SPRED1):c.917A>G (p.Lys306Arg)
|
rs1888477642
|
|
|
NM_152594.3(SPRED1):c.922T>A (p.Ser308Thr)
|
rs765841849
|
|
|
NM_152594.3(SPRED1):c.931T>C (p.Phe311Leu)
|
rs375700452
|
|
|
NM_152594.3(SPRED1):c.943C>T (p.Pro315Ser)
|
|
|
|
NM_152594.3(SPRED1):c.958A>G (p.Ile320Val)
|
|
|
|
NM_152594.3(SPRED1):c.962A>C (p.Lys321Thr)
|
|
|
|
NM_152594.3(SPRED1):c.962A>G (p.Lys321Arg)
|
|
|
|
NM_152594.3(SPRED1):c.963G>C (p.Lys321Asn)
|
|
|
|
NM_152594.3(SPRED1):c.967T>G (p.Ser323Ala)
|
|
|
|
NM_152594.3(SPRED1):c.974G>A (p.Arg325Gln)
|
rs1238094530
|
|
|
NM_152594.3(SPRED1):c.977G>C (p.Arg326Thr)
|
|
|
|
NM_152594.3(SPRED1):c.985G>T (p.Asp329Tyr)
|
rs756634323
|
|
|
NM_152594.3(SPRED1):c.989G>A (p.Gly330Asp)
|
rs1461391044
|
|
|
NM_152594.3(SPRED1):c.993A>G (p.Glu331=)
|
|
|
|
NM_152594.3(SPRED1):c.997T>G (p.Ser333Ala)
|
|
|
|
NM_181703.4(GJA5):c.1000C>A (p.Pro334Thr)
|
|
|
|
NM_181703.4(GJA5):c.1020C>G (p.Asp340Glu)
|
|
|
|
NM_181703.4(GJA5):c.1023G>C (p.Lys341Asn)
|
|
|
|
NM_181703.4(GJA5):c.1030C>A (p.Leu344Ile)
|
|
|
|
NM_181703.4(GJA5):c.1034G>A (p.Ser345Asn)
|
|
|
|
NM_181703.4(GJA5):c.1035_1038del (p.Ser345fs)
|
rs781887233
|
|
|
NM_181703.4(GJA5):c.1039G>C (p.Ala347Pro)
|
|
|
|
NM_181703.4(GJA5):c.1046G>A (p.Ser349Asn)
|
|
|
|
NM_181703.4(GJA5):c.1065C>A (p.Asp355Glu)
|
|
|
|
NM_181703.4(GJA5):c.148G>A (p.Ala50Thr)
|
rs782167622
|
|
|
NM_181703.4(GJA5):c.160T>C (p.Cys54Arg)
|
|
|
|
NM_181703.4(GJA5):c.176C>T (p.Pro59Leu)
|
|
|
|
NM_181703.4(GJA5):c.199G>T (p.Asp67Tyr)
|
rs150906806
|
|
|
NM_181703.4(GJA5):c.203A>G (p.Gln68Arg)
|
|
|
|
NM_181703.4(GJA5):c.208T>C (p.Phe70Leu)
|
|
|
|
NM_181703.4(GJA5):c.223A>T (p.Ile75Phe)
|
rs587777304
|
|
|
NM_181703.4(GJA5):c.227G>A (p.Arg76His)
|
rs2148959382
|
|
|
NM_181703.4(GJA5):c.229T>C (p.Tyr77His)
|
rs1663877672
|
|
|
NM_181703.4(GJA5):c.23del (p.Gly8fs)
|
|
|
|
NM_181703.4(GJA5):c.248T>C (p.Ile83Thr)
|
|
|
|
NM_181703.4(GJA5):c.259A>T (p.Thr87Ser)
|
rs1557943770
|
|
|
NM_181703.4(GJA5):c.266C>G (p.Ser89Cys)
|
|
|
|
NM_181703.4(GJA5):c.269T>C (p.Leu90Pro)
|
|
|
|
NM_181703.4(GJA5):c.272T>C (p.Val91Ala)
|
|
|
|
NM_181703.4(GJA5):c.275A>C (p.Tyr92Ser)
|
|
|
|
NM_181703.4(GJA5):c.278T>C (p.Met93Thr)
|
rs1663872343
|
|
|
NM_181703.4(GJA5):c.279_296dup (p.Thr99_Val100insGlyHisAlaMetHisThr)
|
|
|
|
NM_181703.4(GJA5):c.281del (p.Gly94fs)
|
|
|
|
NM_181703.4(GJA5):c.287C>A (p.Ala96Asp)
|
|
|
|
NM_181703.4(GJA5):c.287C>T (p.Ala96Val)
|
|
|
|
NM_181703.4(GJA5):c.299T>G (p.Val100Gly)
|
|
|
|
NM_181703.4(GJA5):c.302G>A (p.Arg101His)
|
rs782301284
|
|
|
NM_181703.4(GJA5):c.304A>C (p.Met102Leu)
|
|
|
|
NM_181703.4(GJA5):c.304A>T (p.Met102Leu)
|
rs1285920774
|
|
|
NM_181703.4(GJA5):c.317G>A (p.Arg106His)
|
|
|
|
NM_181703.4(GJA5):c.347A>C (p.Glu116Ala)
|
rs782546377
|
|
|
NM_181703.4(GJA5):c.352C>G (p.Arg118Gly)
|
|
|
|
NM_181703.4(GJA5):c.355G>T (p.Gly119Cys)
|
rs2148959258
|
|
|
NM_181703.4(GJA5):c.356G>A (p.Gly119Asp)
|
rs1663860097
|
|
|
NM_181703.4(GJA5):c.362G>A (p.Gly121Asp)
|
rs1413935876
|
|
|
NM_181703.4(GJA5):c.365C>G (p.Ser122Cys)
|
rs781831348
|
|
|
NM_181703.4(GJA5):c.377C>A (p.Pro126Gln)
|
|
|
|
NM_181703.4(GJA5):c.411G>T (p.Glu137Asp)
|
rs200288659
|
|
|
NM_181703.4(GJA5):c.415G>A (p.Gly139Arg)
|
|
|
|
NM_181703.4(GJA5):c.433C>A (p.Leu145Ile)
|
rs2148959187
|
|
|
NM_181703.4(GJA5):c.433del (p.Leu145fs)
|
rs781802553
|
|
|
NM_181703.4(GJA5):c.479G>A (p.Arg160His)
|
|
|
|
NM_181703.4(GJA5):c.479G>T (p.Arg160Leu)
|
rs782538185
|
|
|
NM_181703.4(GJA5):c.481A>G (p.Thr161Ala)
|
rs2148959150
|
|
|
NM_181703.4(GJA5):c.497G>C (p.Gly166Ala)
|
|
|
|
NM_181703.4(GJA5):c.497del (p.Gly166fs)
|
|
|
|
NM_181703.4(GJA5):c.4G>C (p.Gly2Arg)
|
rs2148959534
|
|
|
NM_181703.4(GJA5):c.516C>A (p.Tyr172Ter)
|
|
|
|
NM_181703.4(GJA5):c.521T>A (p.Ile174Asn)
|
|
|
|
NM_181703.4(GJA5):c.525C>G (p.Tyr175Ter)
|
rs149441155
|
|
|
NM_181703.4(GJA5):c.526G>A (p.Gly176Arg)
|
rs2148959125
|
|
|
NM_181703.4(GJA5):c.533del (p.Phe178fs)
|
|
|
|
NM_181703.4(GJA5):c.550G>A (p.Val184Ile)
|
|
|
|
NM_181703.4(GJA5):c.551T>A (p.Val184Asp)
|
rs2148959108
|
|
|
NM_181703.4(GJA5):c.566C>G (p.Pro189Arg)
|
|
|
|
NM_181703.4(GJA5):c.578C>T (p.Pro193Leu)
|
|
|
|
NM_181703.4(GJA5):c.578del (p.Pro193fs)
|
|
|
|
NM_181703.4(GJA5):c.584A>G (p.Asn195Ser)
|
|
|
|
NM_181703.4(GJA5):c.598C>T (p.Arg200Trp)
|
|
|
|
NM_181703.4(GJA5):c.607G>A (p.Glu203Lys)
|
|
|
|
NM_181703.4(GJA5):c.610A>G (p.Lys204Glu)
|
|
|
|
NM_181703.4(GJA5):c.624T>G (p.Ile208Met)
|
|
|
|
NM_181703.4(GJA5):c.635T>C (p.Leu212Pro)
|
|
|
|
NM_181703.4(GJA5):c.638C>A (p.Ala213Asp)
|
|
|
|
NM_181703.4(GJA5):c.646G>A (p.Ala216Thr)
|
|
|
|
NM_181703.4(GJA5):c.650T>C (p.Leu217Pro)
|
|
|
|
NM_181703.4(GJA5):c.658C>T (p.Leu220Phe)
|
rs1553226912
|
|
|
NM_181703.4(GJA5):c.665G>C (p.Ser222Thr)
|
rs1553226908
|
|
|
NM_181703.4(GJA5):c.695AGA[1] (p.Lys233del)
|
|
|
|
NM_181703.4(GJA5):c.695del (p.Lys232fs)
|
|
|
|
NM_181703.4(GJA5):c.700A>T (p.Ile234Phe)
|
rs2148959007
|
|
|
NM_181703.4(GJA5):c.709C>T (p.Arg237Ter)
|
rs1476854402
|
|
|
NM_181703.4(GJA5):c.722C>G (p.Pro241Arg)
|
|
|
|
NM_181703.4(GJA5):c.727C>T (p.Gln243Ter)
|
rs2148958988
|
|
|
NM_181703.4(GJA5):c.730C>T (p.His244Tyr)
|
|
|
|
NM_181703.4(GJA5):c.769A>G (p.Ile257Val)
|
|
|
|
NM_181703.4(GJA5):c.76C>T (p.Leu26Phe)
|
|
|
|
NM_181703.4(GJA5):c.772G>T (p.Val258Phe)
|
|
|
|
NM_181703.4(GJA5):c.777del (p.Ser260fs)
|
|
|
|
NM_181703.4(GJA5):c.795dup (p.Asp266fs)
|
rs782537868
|
|
|
NM_181703.4(GJA5):c.815A>C (p.Glu272Ala)
|
|
|
|
NM_181703.4(GJA5):c.816G>T (p.Glu272Asp)
|
|
|
|
NM_181703.4(GJA5):c.821G>A (p.Gly274Asp)
|
|
|
|
NM_181703.4(GJA5):c.823C>T (p.Pro275Ser)
|
|
|
|
NM_181703.4(GJA5):c.824C>G (p.Pro275Arg)
|
|
|
|
NM_181703.4(GJA5):c.824C>T (p.Pro275Leu)
|
|
|
|
NM_181703.4(GJA5):c.827_838del (p.Gly276_Phe280delinsVal)
|
|
|
|
NM_181703.4(GJA5):c.833A>G (p.Lys278Arg)
|
rs2148958862
|
|
|
NM_181703.4(GJA5):c.834del (p.Lys278fs)
|
|
|
|
NM_181703.4(GJA5):c.860T>A (p.Met287Lys)
|
|
|
|
NM_181703.4(GJA5):c.863C>T (p.Ala288Val)
|
|
|
|
NM_181703.4(GJA5):c.904C>T (p.Arg302Ter)
|
|
|
|
NM_181703.4(GJA5):c.905G>A (p.Arg302Gln)
|
rs781925387
|
|
|
NM_181703.4(GJA5):c.908G>A (p.Gly303Asp)
|
|
|
|
NM_181703.4(GJA5):c.913G>A (p.Glu305Lys)
|
|
|
|
NM_181703.4(GJA5):c.920C>T (p.Thr307Ile)
|
rs781992965
|
|
|
NM_181703.4(GJA5):c.923C>G (p.Pro308Arg)
|
|
|
|
NM_181703.4(GJA5):c.925G>A (p.Gly309Arg)
|
|
|
|
NM_181703.4(GJA5):c.926G>C (p.Gly309Ala)
|
|
|
|
NM_181703.4(GJA5):c.932G>C (p.Gly311Ala)
|
|
|
|
NM_181703.4(GJA5):c.941A>G (p.Gln314Arg)
|
rs1663823052
|
|
|
NM_181703.4(GJA5):c.942G>T (p.Gln314His)
|
|
|
|
NM_181703.4(GJA5):c.947G>A (p.Arg316His)
|
rs369631383
|
|
|
NM_181703.4(GJA5):c.947G>C (p.Arg316Pro)
|
rs369631383
|
|
|
NM_181703.4(GJA5):c.947G>T (p.Arg316Leu)
|
|
|
|
NM_181703.4(GJA5):c.977G>A (p.Gly326Glu)
|
rs782703462
|
|
|
NM_181703.4(GJA5):c.989G>C (p.Gly330Ala)
|
|
|
|
NM_182914.3(SYNE2):c.10016A>G (p.Lys3339Arg)
|
|
|
|
NM_182914.3(SYNE2):c.10031A>C (p.Lys3344Thr)
|
|
|
|
NM_182914.3(SYNE2):c.10051G>A (p.Glu3351Lys)
|
|
|
|
NM_182914.3(SYNE2):c.10067+3A>G
|
|
|
|
NM_182914.3(SYNE2):c.10067+6T>C
|
|
|
|
NM_182914.3(SYNE2):c.10070A>G (p.Tyr3357Cys)
|
rs1034591406
|
|
|
NM_182914.3(SYNE2):c.1008G>T (p.Met336Ile)
|
|
|
|
NM_182914.3(SYNE2):c.10130A>G (p.Lys3377Arg)
|
rs1182521156
|
|
|
NM_182914.3(SYNE2):c.10139C>T (p.Thr3380Ile)
|
|
|
|
NM_182914.3(SYNE2):c.1019A>G (p.Asn340Ser)
|
|
|
|
NM_182914.3(SYNE2):c.10233A>G (p.Ile3411Met)
|
rs751265049
|
|
|
NM_182914.3(SYNE2):c.10242A>C (p.Lys3414Asn)
|
rs2153592645
|
|
|
NM_182914.3(SYNE2):c.10246G>A (p.Glu3416Lys)
|
|
|
|
NM_182914.3(SYNE2):c.10262G>A (p.Arg3421Gln)
|
|
|
|
NM_182914.3(SYNE2):c.10267A>T (p.Ile3423Phe)
|
rs779367486
|
|
|
NM_182914.3(SYNE2):c.10294A>C (p.Thr3432Pro)
|
|
|
|
NM_182914.3(SYNE2):c.10310T>C (p.Ile3437Thr)
|
|
|
|
NM_182914.3(SYNE2):c.10327G>T (p.Val3443Leu)
|
rs564182126
|
|
|
NM_182914.3(SYNE2):c.10348T>C (p.Trp3450Arg)
|
rs375398029
|
|
|
NM_182914.3(SYNE2):c.10348T>G (p.Trp3450Gly)
|
rs375398029
|
|
|
NM_182914.3(SYNE2):c.10367C>A (p.Ala3456Asp)
|
rs1423700005
|
|
|
NM_182914.3(SYNE2):c.10370C>T (p.Ala3457Val)
|
rs2153592805
|
|
|
NM_182914.3(SYNE2):c.10372A>G (p.Lys3458Glu)
|
rs1464529475
|
|
|
NM_182914.3(SYNE2):c.10378T>C (p.Trp3460Arg)
|
rs1369723578
|
|
|
NM_182914.3(SYNE2):c.10427A>G (p.Glu3476Gly)
|
rs866558509
|
|
|
NM_182914.3(SYNE2):c.10431+4A>C
|
|
|
|
NM_182914.3(SYNE2):c.10431+6T>A
|
rs2097353192
|
|
|
NM_182914.3(SYNE2):c.10431A>G (p.Glu3477=)
|
|
|
|
NM_182914.3(SYNE2):c.10447A>G (p.Ile3483Val)
|
|
|
|
NM_182914.3(SYNE2):c.10480G>C (p.Glu3494Gln)
|
rs752056288
|
|
|
NM_182914.3(SYNE2):c.10490A>G (p.Lys3497Arg)
|
rs2153599582
|
|
|
NM_182914.3(SYNE2):c.10502C>T (p.Ala3501Val)
|
rs1042324901
|
|
|
NM_182914.3(SYNE2):c.10508C>T (p.Thr3503Ile)
|
rs1567208804
|
|
|
NM_182914.3(SYNE2):c.10516_10517insTG (p.Glu3506fs)
|
|
|
|
NM_182914.3(SYNE2):c.10552G>A (p.Gly3518Arg)
|
rs1555462898
|
|
|
NM_182914.3(SYNE2):c.1055T>C (p.Ile352Thr)
|
|
|
|
NM_182914.3(SYNE2):c.10566G>T (p.Glu3522Asp)
|
|
|
|
NM_182914.3(SYNE2):c.10583T>C (p.Leu3528Pro)
|
|
|
|
NM_182914.3(SYNE2):c.10598A>G (p.Gln3533Arg)
|
rs2153599656
|
|
|
NM_182914.3(SYNE2):c.10601G>A (p.Arg3534His)
|
|
|
|
NM_182914.3(SYNE2):c.10610G>T (p.Ser3537Ile)
|
rs2097400006
|
|
|
NM_182914.3(SYNE2):c.10636G>C (p.Gly3546Arg)
|
|
|
|
NM_182914.3(SYNE2):c.10645G>A (p.Glu3549Lys)
|
|
|
|
NM_182914.3(SYNE2):c.10669A>T (p.Ile3557Phe)
|
rs2097400485
|
|
|
NM_182914.3(SYNE2):c.10688G>A (p.Arg3563Gln)
|
|
|
|
NM_182914.3(SYNE2):c.10697+4_10697+10del
|
rs1430702045
|
|
|
NM_182914.3(SYNE2):c.10697+6A>G
|
|
|
|
NM_182914.3(SYNE2):c.10711G>C (p.Val3571Leu)
|
rs2097435549
|
|
|
NM_182914.3(SYNE2):c.10724A>C (p.Lys3575Thr)
|
|
|
|
NM_182914.3(SYNE2):c.10809_10811del (p.Thr3604del)
|
|
|
|
NM_182914.3(SYNE2):c.10838A>G (p.Asp3613Gly)
|
|
|
|
NM_182914.3(SYNE2):c.1084G>T (p.Asp362Tyr)
|
rs2153454333
|
|
|
NM_182914.3(SYNE2):c.10864G>T (p.Glu3622Ter)
|
rs374132878
|
|
|
NM_182914.3(SYNE2):c.10924C>A (p.Leu3642Met)
|
rs1595351833
|
|
|
NM_182914.3(SYNE2):c.10928G>A (p.Arg3643Gln)
|
rs748433814
|
|
|
NM_182914.3(SYNE2):c.10935G>C (p.Lys3645Asn)
|
|
|
|
NM_182914.3(SYNE2):c.1094A>T (p.Gln365Leu)
|
|
|
|
NM_182914.3(SYNE2):c.10976C>T (p.Ser3659Phe)
|
|
|
|
NM_182914.3(SYNE2):c.10987G>T (p.Glu3663Ter)
|
rs2153606081
|
|
|
NM_182914.3(SYNE2):c.10990T>A (p.Cys3664Ser)
|
rs372299859
|
|
|
NM_182914.3(SYNE2):c.11023A>T (p.Ile3675Phe)
|
|
|
|
NM_182914.3(SYNE2):c.11043A>C (p.Lys3681Asn)
|
|
|
|
NM_182914.3(SYNE2):c.1111G>T (p.Asp371Tyr)
|
|
|
|
NM_182914.3(SYNE2):c.11138T>G (p.Ile3713Ser)
|
rs201740276
|
|
|
NM_182914.3(SYNE2):c.11139T>G (p.Ile3713Met)
|
rs755177395
|
|
|
NM_182914.3(SYNE2):c.11157_11163+7del
|
rs2097489968
|
|
|
NM_182914.3(SYNE2):c.11159A>G (p.Gln3720Arg)
|
|
|
|
NM_182914.3(SYNE2):c.11163G>A (p.Lys3721=)
|
rs2153609576
|
|
|
NM_182914.3(SYNE2):c.11168T>C (p.Met3723Thr)
|
|
|
|
NM_182914.3(SYNE2):c.1117C>G (p.Leu373Val)
|
|
|
|
NM_182914.3(SYNE2):c.11182G>A (p.Asp3728Asn)
|
rs2097511455
|
|
|
NM_182914.3(SYNE2):c.11255C>G (p.Ala3752Gly)
|
rs1435842315
|
|
|
NM_182914.3(SYNE2):c.11259A>C (p.Gln3753His)
|
rs1226574131
|
|
|
NM_182914.3(SYNE2):c.11297A>G (p.Tyr3766Cys)
|
rs2097512603
|
|
|
NM_182914.3(SYNE2):c.11327G>A (p.Arg3776Lys)
|
|
|
|
NM_182914.3(SYNE2):c.1133A>G (p.Asn378Ser)
|
|
|
|
NM_182914.3(SYNE2):c.11342A>G (p.Asn3781Ser)
|
rs746603645
|
|
|
NM_182914.3(SYNE2):c.11346+4T>A
|
rs1039538127
|
|
|
NM_182914.3(SYNE2):c.11346+6G>A
|
|
|
|
NM_182914.3(SYNE2):c.11367A>C (p.Glu3789Asp)
|
rs762999027
|
|
|
NM_182914.3(SYNE2):c.11390C>T (p.Thr3797Ile)
|
|
|
|
NM_182914.3(SYNE2):c.113C>T (p.Thr38Met)
|
|
|
|
NM_182914.3(SYNE2):c.11410A>G (p.Thr3804Ala)
|
|
|
|
NM_182914.3(SYNE2):c.11411C>T (p.Thr3804Ile)
|
|
|
|
NM_182914.3(SYNE2):c.11446T>C (p.Ser3816Pro)
|
|
|
|
NM_182914.3(SYNE2):c.11462G>A (p.Ser3821Asn)
|
rs1555469449
|
|
|
NM_182914.3(SYNE2):c.11484+1G>T
|
|
|
|
NM_182914.3(SYNE2):c.11531T>A (p.Ile3844Asn)
|
rs566279122
|
|
|
NM_182914.3(SYNE2):c.11549_11550delinsGA (p.Asp3850Gly)
|
rs1555473349
|
|
|
NM_182914.3(SYNE2):c.11557A>G (p.Ile3853Val)
|
|
|
|
NM_182914.3(SYNE2):c.11592A>G (p.Ile3864Met)
|
|
|
|
NM_182914.3(SYNE2):c.11608C>G (p.Gln3870Glu)
|
|
|
|
NM_182914.3(SYNE2):c.11609A>G (p.Gln3870Arg)
|
|
|
|
NM_182914.3(SYNE2):c.11615C>T (p.Thr3872Ile)
|
rs1595432634
|
|
|
NM_182914.3(SYNE2):c.11637G>C (p.Met3879Ile)
|
|
|
|
NM_182914.3(SYNE2):c.11641A>T (p.Ser3881Cys)
|
rs2153622293
|
|
|
NM_182914.3(SYNE2):c.11645_11647dup (p.Leu3882dup)
|
rs2153622305
|
|
|
NM_182914.3(SYNE2):c.11704A>C (p.Met3902Leu)
|
|
|
|
NM_182914.3(SYNE2):c.11704A>G (p.Met3902Val)
|
rs909725905
|
|
|
NM_182914.3(SYNE2):c.11729A>G (p.Lys3910Arg)
|
rs142616444
|
|
|
NM_182914.3(SYNE2):c.11729A>T (p.Lys3910Ile)
|
rs142616444
|
|
|
NM_182914.3(SYNE2):c.1177C>T (p.His393Tyr)
|
rs2096545410
|
|
|
NM_182914.3(SYNE2):c.11798T>C (p.Ile3933Thr)
|
rs752738016
|
|
|
NM_182914.3(SYNE2):c.11807A>G (p.Asn3936Ser)
|
|
|
|
NM_182914.3(SYNE2):c.11812C>T (p.Arg3938Cys)
|
|
|
|
NM_182914.3(SYNE2):c.11834C>T (p.Ala3945Val)
|
rs756937805
|
|
|
NM_182914.3(SYNE2):c.11854G>A (p.Val3952Met)
|
rs758155150
|
|
|
NM_182914.3(SYNE2):c.11855T>A (p.Val3952Glu)
|
|
|
|
NM_182914.3(SYNE2):c.11873A>G (p.Gln3958Arg)
|
|
|
|
NM_182914.3(SYNE2):c.11881A>C (p.Met3961Leu)
|
|
|
|
NM_182914.3(SYNE2):c.11911A>G (p.Asn3971Asp)
|
|
|
|
NM_182914.3(SYNE2):c.11930_11932dup (p.Ile3977_Lys3978insIle)
|
|
|
|
NM_182914.3(SYNE2):c.11931A>G (p.Ile3977Met)
|
rs1316072697
|
|
|
NM_182914.3(SYNE2):c.11950A>T (p.Thr3984Ser)
|
|
|
|
NM_182914.3(SYNE2):c.11976+5G>A
|
rs772490248
|
|
|
NM_182914.3(SYNE2):c.11996A>G (p.Asn3999Ser)
|
rs1232744942
|
|
|
NM_182914.3(SYNE2):c.12014T>C (p.Ile4005Thr)
|
|
|
|
NM_182914.3(SYNE2):c.12057C>A (p.Phe4019Leu)
|
|
|
|
NM_182914.3(SYNE2):c.12077C>G (p.Pro4026Arg)
|
rs1009708251
|
|
|
NM_182914.3(SYNE2):c.12089_12096dup (p.Pro4033fs)
|
|
|
|
NM_182914.3(SYNE2):c.12103C>G (p.Leu4035Val)
|
rs1395737115
|
|
|
NM_182914.3(SYNE2):c.12209A>G (p.His4070Arg)
|
rs2153635653
|
|
|
NM_182914.3(SYNE2):c.12224AAG[1] (p.Glu4076del)
|
rs748493867
|
|
|
NM_182914.3(SYNE2):c.12226G>A (p.Glu4076Lys)
|
rs1567288490
|
|
|
NM_182914.3(SYNE2):c.12239G>A (p.Arg4080Lys)
|
rs886042419
|
|
|
NM_182914.3(SYNE2):c.12243T>A (p.Asp4081Glu)
|
|
|
|
NM_182914.3(SYNE2):c.12253G>A (p.Ala4085Thr)
|
rs772564360
|
|
|
NM_182914.3(SYNE2):c.12254C>T (p.Ala4085Val)
|
rs2153635686
|
|
|
NM_182914.3(SYNE2):c.12274G>A (p.Gly4092Arg)
|
|
|
|
NM_182914.3(SYNE2):c.12287G>A (p.Arg4096Lys)
|
|
|
|
NM_182914.3(SYNE2):c.12295T>C (p.Ser4099Pro)
|
|
|
|
NM_182914.3(SYNE2):c.12299A>C (p.Glu4100Ala)
|
rs779963258
|
|
|
NM_182914.3(SYNE2):c.12299A>T (p.Glu4100Val)
|
|
|
|
NM_182914.3(SYNE2):c.12301C>T (p.Arg4101Trp)
|
|
|
|
NM_182914.3(SYNE2):c.12314G>A (p.Arg4105Lys)
|
rs2097697463
|
|
|
NM_182914.3(SYNE2):c.12320G>C (p.Gly4107Ala)
|
|
|
|
NM_182914.3(SYNE2):c.12325A>G (p.Met4109Val)
|
rs1296085055
|
|
|
NM_182914.3(SYNE2):c.12350A>G (p.Glu4117Gly)
|
|
|
|
NM_182914.3(SYNE2):c.12356T>G (p.Val4119Gly)
|
rs932903871
|
|
|
NM_182914.3(SYNE2):c.12370G>A (p.Val4124Met)
|
rs370255444
|
|
|
NM_182914.3(SYNE2):c.1238C>A (p.Ser413Tyr)
|
|
|
|
NM_182914.3(SYNE2):c.12397G>C (p.Ala4133Pro)
|
rs758104840
|
|
|
NM_182914.3(SYNE2):c.1240C>T (p.Gln414Ter)
|
|
|
|
NM_182914.3(SYNE2):c.12424T>A (p.Ser4142Thr)
|
|
|
|
NM_182914.3(SYNE2):c.12445G>T (p.Asp4149Tyr)
|
rs1555485325
|
|
|
NM_182914.3(SYNE2):c.12457G>C (p.Asp4153His)
|
rs1595531126
|
|
|
NM_182914.3(SYNE2):c.12470C>T (p.Ser4157Leu)
|
rs1567303775
|
|
|
NM_182914.3(SYNE2):c.12475T>C (p.Ser4159Pro)
|
|
|
|
NM_182914.3(SYNE2):c.1247A>T (p.His416Leu)
|
|
|
|
NM_182914.3(SYNE2):c.12485T>C (p.Ile4162Thr)
|
|
|
|
NM_182914.3(SYNE2):c.12508A>G (p.Ile4170Val)
|
rs2153650321
|
|
|
NM_182914.3(SYNE2):c.1255G>A (p.Ala419Thr)
|
|
|
|
NM_182914.3(SYNE2):c.12569A>C (p.Gln4190Pro)
|
rs1178890933
|
|
|
NM_182914.3(SYNE2):c.12613A>C (p.Thr4205Pro)
|
rs1421677072
|
|
|
NM_182914.3(SYNE2):c.12620C>T (p.Pro4207Leu)
|
|
|
|
NM_182914.3(SYNE2):c.12623C>T (p.Pro4208Leu)
|
|
|
|
NM_182914.3(SYNE2):c.12625A>G (p.Ile4209Val)
|
|
|
|
NM_182914.3(SYNE2):c.12647C>G (p.Ser4216Cys)
|
|
|
|
NM_182914.3(SYNE2):c.12655G>C (p.Ala4219Pro)
|
rs138644399
|
|
|
NM_182914.3(SYNE2):c.12703A>G (p.Thr4235Ala)
|
rs2153657597
|
|
|
NM_182914.3(SYNE2):c.12726G>T (p.Lys4242Asn)
|
|
|
|
NM_182914.3(SYNE2):c.12742C>G (p.Leu4248Val)
|
|
|
|
NM_182914.3(SYNE2):c.12747G>T (p.Glu4249Asp)
|
|
|
|
NM_182914.3(SYNE2):c.12757C>G (p.Gln4253Glu)
|
|
|
|
NM_182914.3(SYNE2):c.12764C>T (p.Ala4255Val)
|
|
|
|
NM_182914.3(SYNE2):c.12766A>C (p.Asn4256His)
|
|
|
|
NM_182914.3(SYNE2):c.12776T>C (p.Val4259Ala)
|
|
|
|
NM_182914.3(SYNE2):c.12799G>A (p.Asp4267Asn)
|
rs1274566063
|
|
|
NM_182914.3(SYNE2):c.12840+1G>A
|
rs2097829846
|
|
|
NM_182914.3(SYNE2):c.12964G>T (p.Val4322Leu)
|
|
|
|
NM_182914.3(SYNE2):c.13001A>G (p.Gln4334Arg)
|
|
|
|
NM_182914.3(SYNE2):c.13015G>A (p.Glu4339Lys)
|
|
|
|
NM_182914.3(SYNE2):c.13020_13023+12delinsGATCT
|
rs1555495562
|
|
|
NM_182914.3(SYNE2):c.13020_13023+9del
|
|
|
|
NM_182914.3(SYNE2):c.13022A>G (p.Gln4341Arg)
|
rs773368959
|
|
|
NM_182914.3(SYNE2):c.13033A>G (p.Ile4345Val)
|
|
|
|
NM_182914.3(SYNE2):c.13128C>G (p.Phe4376Leu)
|
|
|
|
NM_182914.3(SYNE2):c.13141G>T (p.Asp4381Tyr)
|
rs1595663501
|
|
|
NM_182914.3(SYNE2):c.13159G>A (p.Val4387Ile)
|
|
|
|
NM_182914.3(SYNE2):c.13159G>C (p.Val4387Leu)
|
rs764515386
|
|
|
NM_182914.3(SYNE2):c.13159G>T (p.Val4387Phe)
|
|
|
|
NM_182914.3(SYNE2):c.13188A>T (p.Lys4396Asn)
|
|
|
|
NM_182914.3(SYNE2):c.13234C>T (p.Gln4412Ter)
|
rs1427446795
|
|
|
NM_182914.3(SYNE2):c.13291T>A (p.Ser4431Thr)
|
|
|
|
NM_182914.3(SYNE2):c.13312C>T (p.Pro4438Ser)
|
|
|
|
NM_182914.3(SYNE2):c.13335G>C (p.Gln4445His)
|
|
|
|
NM_182914.3(SYNE2):c.13366C>T (p.His4456Tyr)
|
|
|
|
NM_182914.3(SYNE2):c.13371T>G (p.His4457Gln)
|
rs778640413
|
|
|
NM_182914.3(SYNE2):c.13423-5A>G
|
rs2153670816
|
|
|
NM_182914.3(SYNE2):c.13453G>A (p.Val4485Met)
|
|
|
|
NM_182914.3(SYNE2):c.13467C>T (p.Asn4489=)
|
|
|
|
NM_182914.3(SYNE2):c.13489G>T (p.Glu4497Ter)
|
rs1350663000
|
|
|
NM_182914.3(SYNE2):c.13526G>A (p.Arg4509His)
|
rs200946949
|
|
|
NM_182914.3(SYNE2):c.1352A>G (p.Asp451Gly)
|
|
|
|
NM_182914.3(SYNE2):c.13549A>G (p.Thr4517Ala)
|
rs980737727
|
|
|
NM_182914.3(SYNE2):c.13554+3A>G
|
|
|
|
NM_182914.3(SYNE2):c.13554+6del
|
rs772829991
|
|
|
NM_182914.3(SYNE2):c.13576T>C (p.Tyr4526His)
|
|
|
|
NM_182914.3(SYNE2):c.13577A>G (p.Tyr4526Cys)
|
|
|
|
NM_182914.3(SYNE2):c.13583A>C (p.Asn4528Thr)
|
|
|
|
NM_182914.3(SYNE2):c.13588G>T (p.Asp4530Tyr)
|
|
|
|
NM_182914.3(SYNE2):c.13645del (p.Glu4549fs)
|
rs2097945797
|
|
|
NM_182914.3(SYNE2):c.13660C>G (p.Pro4554Ala)
|
|
|
|
NM_182914.3(SYNE2):c.13664G>C (p.Arg4555Thr)
|
|
|
|
NM_182914.3(SYNE2):c.13675G>A (p.Glu4559Lys)
|
|
|
|
NM_182914.3(SYNE2):c.13687G>C (p.Gly4563Arg)
|
rs1595697916
|
|
|
NM_182914.3(SYNE2):c.13688G>A (p.Gly4563Asp)
|
rs749516915
|
|
|
NM_182914.3(SYNE2):c.13697T>C (p.Val4566Ala)
|
rs2097946367
|
|
|
NM_182914.3(SYNE2):c.13705_13706delinsTT (p.Glu4569Leu)
|
rs2153672414
|
|
|
NM_182914.3(SYNE2):c.1372G>C (p.Val458Leu)
|
|
|
|
NM_182914.3(SYNE2):c.13747A>C (p.Ser4583Arg)
|
rs886042291
|
|
|
NM_182914.3(SYNE2):c.13760G>A (p.Gly4587Asp)
|
|
|
|
NM_182914.3(SYNE2):c.13775C>T (p.Ala4592Val)
|
rs2153672678
|
|
|
NM_182914.3(SYNE2):c.13777A>T (p.Met4593Leu)
|
rs777253540
|
|
|
NM_182914.3(SYNE2):c.1379C>T (p.Pro460Leu)
|
|
|
|
NM_182914.3(SYNE2):c.13826A>G (p.Asn4609Ser)
|
|
|
|
NM_182914.3(SYNE2):c.13838G>C (p.Cys4613Ser)
|
|
|
|
NM_182914.3(SYNE2):c.13858G>C (p.Ala4620Pro)
|
rs778607522
|
|
|
NM_182914.3(SYNE2):c.13875C>T (p.Ser4625=)
|
rs762342233
|
|
|
NM_182914.3(SYNE2):c.1388T>G (p.Leu463Trp)
|
|
|
|
NM_182914.3(SYNE2):c.13904A>G (p.Asn4635Ser)
|
|
|
|
NM_182914.3(SYNE2):c.13906C>T (p.Arg4636Cys)
|
rs767673156
|
|
|
NM_182914.3(SYNE2):c.13918-3C>T
|
|
|
|
NM_182914.3(SYNE2):c.13919A>G (p.Asn4640Ser)
|
|
|
|
NM_182914.3(SYNE2):c.13953G>A (p.Lys4651=)
|
|
|
|
NM_182914.3(SYNE2):c.1398G>T (p.Met466Ile)
|
rs2096557553
|
|
|
NM_182914.3(SYNE2):c.14003T>C (p.Val4668Ala)
|
|
|
|
NM_182914.3(SYNE2):c.14044C>G (p.Leu4682Val)
|
rs184218195
|
|
|
NM_182914.3(SYNE2):c.14050A>G (p.Asn4684Asp)
|
|
|
|
NM_182914.3(SYNE2):c.14053G>T (p.Ala4685Ser)
|
rs779457100
|
|
|
NM_182914.3(SYNE2):c.1405C>T (p.Arg469Ter)
|
rs772555259
|
|
|
NM_182914.3(SYNE2):c.140G>A (p.Arg47Lys)
|
|
|
|
NM_182914.3(SYNE2):c.14117T>C (p.Leu4706Pro)
|
rs2097995502
|
|
|
NM_182914.3(SYNE2):c.14120AGG[1] (p.Glu4708del)
|
|
|
|
NM_182914.3(SYNE2):c.1412A>G (p.Asn471Ser)
|
rs1596005286
|
|
|
NM_182914.3(SYNE2):c.14146C>T (p.Leu4716Phe)
|
|
|
|
NM_182914.3(SYNE2):c.14157G>A (p.Met4719Ile)
|
rs140797941
|
|
|
NM_182914.3(SYNE2):c.14157G>T (p.Met4719Ile)
|
rs140797941
|
|
|
NM_182914.3(SYNE2):c.14178G>T (p.Arg4726Ser)
|
|
|
|
NM_182914.3(SYNE2):c.14179T>G (p.Tyr4727Asp)
|
rs2097999211
|
|
|
NM_182914.3(SYNE2):c.14198C>G (p.Pro4733Arg)
|
|
|
|
NM_182914.3(SYNE2):c.14224G>C (p.Ala4742Pro)
|
rs768191476
|
|
|
NM_182914.3(SYNE2):c.14237G>T (p.Gly4746Val)
|
rs2153678880
|
|
|
NM_182914.3(SYNE2):c.14258T>C (p.Ile4753Thr)
|
|
|
|
NM_182914.3(SYNE2):c.14279A>G (p.His4760Arg)
|
rs1006840235
|
|
|
NM_182914.3(SYNE2):c.1432T>A (p.Phe478Ile)
|
|
|
|
NM_182914.3(SYNE2):c.14354A>G (p.Lys4785Arg)
|
rs2153681761
|
|
|
NM_182914.3(SYNE2):c.14369T>C (p.Met4790Thr)
|
rs2153681775
|
|
|
NM_182914.3(SYNE2):c.14371TTG[1] (p.Leu4792del)
|
|
|
|
NM_182914.3(SYNE2):c.14378T>C (p.Ile4793Thr)
|
rs1281282356
|
|
|
NM_182914.3(SYNE2):c.14381A>G (p.Gln4794Arg)
|
|
|
|
NM_182914.3(SYNE2):c.14414T>C (p.Leu4805Ser)
|
rs2153681833
|
|
|
NM_182914.3(SYNE2):c.14421C>G (p.Asn4807Lys)
|
|
|
|
NM_182914.3(SYNE2):c.1444C>G (p.Leu482Val)
|
|
|
|
NM_182914.3(SYNE2):c.14480G>A (p.Arg4827His)
|
|
|
|
NM_182914.3(SYNE2):c.14491A>G (p.Met4831Val)
|
|
|
|
NM_182914.3(SYNE2):c.14527T>C (p.Phe4843Leu)
|
rs1357447966
|
|
|
NM_182914.3(SYNE2):c.14560C>G (p.Leu4854Val)
|
rs1475889359
|
|
|
NM_182914.3(SYNE2):c.14561T>G (p.Leu4854Arg)
|
|
|
|
NM_182914.3(SYNE2):c.14609C>G (p.Thr4870Arg)
|
|
|
|
NM_182914.3(SYNE2):c.1460A>G (p.Tyr487Cys)
|
|
|
|
NM_182914.3(SYNE2):c.14617A>G (p.Arg4873Gly)
|
rs2153684012
|
|
|
NM_182914.3(SYNE2):c.14644C>T (p.Gln4882Ter)
|
rs1555503635
|
|
|
NM_182914.3(SYNE2):c.14662A>G (p.Ile4888Val)
|
|
|
|
NM_182914.3(SYNE2):c.14676C>A (p.His4892Gln)
|
rs375987275
|
|
|
NM_182914.3(SYNE2):c.14680C>T (p.Arg4894Trp)
|
|
|
|
NM_182914.3(SYNE2):c.146C>G (p.Thr49Ser)
|
rs754768287
|
|
|
NM_182914.3(SYNE2):c.14703A>T (p.Glu4901Asp)
|
|
|
|
NM_182914.3(SYNE2):c.14715G>C (p.Leu4905Phe)
|
rs2098107665
|
|
|
NM_182914.3(SYNE2):c.1471G>A (p.Val491Ile)
|
rs1596005659
|
|
|
NM_182914.3(SYNE2):c.14732G>A (p.Cys4911Tyr)
|
|
|
|
NM_182914.3(SYNE2):c.14792A>C (p.Lys4931Thr)
|
|
|
|
NM_182914.3(SYNE2):c.14797G>C (p.Asp4933His)
|
|
|
|
NM_182914.3(SYNE2):c.14798A>G (p.Asp4933Gly)
|
rs2153688211
|
|
|
NM_182914.3(SYNE2):c.14812A>G (p.Arg4938Gly)
|
rs1258752132
|
|
|
NM_182914.3(SYNE2):c.14900T>C (p.Leu4967Pro)
|
rs1555506605
|
|
|
NM_182914.3(SYNE2):c.14927A>G (p.Asn4976Ser)
|
rs148883036
|
|
|
NM_182914.3(SYNE2):c.14938G>C (p.Asp4980His)
|
|
|
|
NM_182914.3(SYNE2):c.14944G>C (p.Asp4982His)
|
|
|
|
NM_182914.3(SYNE2):c.14966A>G (p.Asn4989Ser)
|
|
|
|
NM_182914.3(SYNE2):c.14975T>G (p.Phe4992Cys)
|
|
|
|
NM_182914.3(SYNE2):c.1498T>A (p.Ser500Thr)
|
rs2153471030
|
|
|
NM_182914.3(SYNE2):c.14993T>G (p.Val4998Gly)
|
rs1463128504
|
|
|
NM_182914.3(SYNE2):c.15008C>T (p.Ser5003Phe)
|
|
|
|
NM_182914.3(SYNE2):c.15013A>G (p.Lys5005Glu)
|
|
|
|
NM_182914.3(SYNE2):c.15017C>T (p.Thr5006Ile)
|
rs1334553031
|
|
|
NM_182914.3(SYNE2):c.15022G>A (p.Val5008Ile)
|
|
|
|
NM_182914.3(SYNE2):c.15034G>A (p.Gly5012Arg)
|
|
|
|
NM_182914.3(SYNE2):c.15050A>T (p.His5017Leu)
|
rs1387380431
|
|
|
NM_182914.3(SYNE2):c.15052C>G (p.Leu5018Val)
|
|
|
|
NM_182914.3(SYNE2):c.15092C>A (p.Ala5031Glu)
|
rs2098138765
|
|
|
NM_182914.3(SYNE2):c.15142C>G (p.Gln5048Glu)
|
rs2153692395
|
|
|
NM_182914.3(SYNE2):c.15154C>T (p.His5052Tyr)
|
rs142758563
|
|
|
NM_182914.3(SYNE2):c.15156C>A (p.His5052Gln)
|
|
|
|
NM_182914.3(SYNE2):c.15159+2T>G
|
|
|
|
NM_182914.3(SYNE2):c.15181T>A (p.Ser5061Thr)
|
|
|
|
NM_182914.3(SYNE2):c.15189A>C (p.Lys5063Asn)
|
rs2098142550
|
|
|
NM_182914.3(SYNE2):c.15216G>A (p.Met5072Ile)
|
|
|
|
NM_182914.3(SYNE2):c.15229C>T (p.His5077Tyr)
|
|
|
|
NM_182914.3(SYNE2):c.15233A>C (p.Gln5078Pro)
|
rs751092033
|
|
|
NM_182914.3(SYNE2):c.15243T>G (p.Asp5081Glu)
|
rs1439636138
|
|
|
NM_182914.3(SYNE2):c.15290T>A (p.Leu5097His)
|
|
|
|
NM_182914.3(SYNE2):c.15352G>C (p.Val5118Leu)
|
|
|
|
NM_182914.3(SYNE2):c.15386A>T (p.Asp5129Val)
|
|
|
|
NM_182914.3(SYNE2):c.15400C>T (p.Arg5134Cys)
|
|
|
|
NM_182914.3(SYNE2):c.15401G>A (p.Arg5134His)
|
|
|
|
NM_182914.3(SYNE2):c.15407A>G (p.Glu5136Gly)
|
rs2098160730
|
|
|
NM_182914.3(SYNE2):c.15412A>G (p.Thr5138Ala)
|
|
|
|
NM_182914.3(SYNE2):c.15419T>C (p.Phe5140Ser)
|
|
|
|
NM_182914.3(SYNE2):c.15424G>A (p.Glu5142Lys)
|
rs777915070
|
|
|
NM_182914.3(SYNE2):c.15429C>G (p.His5143Gln)
|
|
|
|
NM_182914.3(SYNE2):c.15436dup (p.Glu5146fs)
|
|
|
|
NM_182914.3(SYNE2):c.15446G>T (p.Arg5149Leu)
|
rs142206385
|
|
|
NM_182914.3(SYNE2):c.15457C>A (p.Arg5153Ser)
|
|
|
|
NM_182914.3(SYNE2):c.15471G>T (p.Met5157Ile)
|
rs774589129
|
|
|
NM_182914.3(SYNE2):c.15527A>T (p.Glu5176Val)
|
rs1595828652
|
|
|
NM_182914.3(SYNE2):c.15556_15557delinsAC (p.Leu5186Thr)
|
rs2153697219
|
|
|
NM_182914.3(SYNE2):c.15575G>T (p.Arg5192Ile)
|
|
|
|
NM_182914.3(SYNE2):c.15599A>G (p.Glu5200Gly)
|
rs2153697258
|
|
|
NM_182914.3(SYNE2):c.15603T>G (p.Ser5201Arg)
|
|
|
|
NM_182914.3(SYNE2):c.15611C>T (p.Ser5204Leu)
|
|
|
|
NM_182914.3(SYNE2):c.15645A>G (p.Ile5215Met)
|
rs2153704568
|
|
|
NM_182914.3(SYNE2):c.1566G>T (p.Trp522Cys)
|
|
|
|
NM_182914.3(SYNE2):c.1569+2T>G
|
rs1029219568
|
|
|
NM_182914.3(SYNE2):c.15724C>T (p.Pro5242Ser)
|
rs2153704617
|
|
|
NM_182914.3(SYNE2):c.1573T>C (p.Phe525Leu)
|
|
|
|
NM_182914.3(SYNE2):c.1574T>G (p.Phe525Cys)
|
rs2096578814
|
|
|
NM_182914.3(SYNE2):c.15792+3A>G
|
|
|
|
NM_182914.3(SYNE2):c.15812C>A (p.Ser5271Tyr)
|
|
|
|
NM_182914.3(SYNE2):c.15818A>G (p.Gln5273Arg)
|
|
|
|
NM_182914.3(SYNE2):c.15869_15877del (p.Asn5290_Met5292del)
|
rs2098305444
|
|
|
NM_182914.3(SYNE2):c.15878C>T (p.Thr5293Ile)
|
|
|
|
NM_182914.3(SYNE2):c.15884G>T (p.Arg5295Leu)
|
rs769633528
|
|
|
NM_182914.3(SYNE2):c.15909C>A (p.Ser5303Arg)
|
|
|
|
NM_182914.3(SYNE2):c.15916G>A (p.Val5306Met)
|
|
|
|
NM_182914.3(SYNE2):c.15965C>T (p.Ser5322Phe)
|
|
|
|
NM_182914.3(SYNE2):c.1601G>A (p.Arg534Gln)
|
|
|
|
NM_182914.3(SYNE2):c.16034A>G (p.Lys5345Arg)
|
|
|
|
NM_182914.3(SYNE2):c.16037G>A (p.Gly5346Asp)
|
rs751652922
|
|
|
NM_182914.3(SYNE2):c.16066G>A (p.Glu5356Lys)
|
|
|
|
NM_182914.3(SYNE2):c.16117A>G (p.Ile5373Val)
|
rs139545002
|
|
|
NM_182914.3(SYNE2):c.16141C>T (p.Gln5381Ter)
|
rs2153715425
|
|
|
NM_182914.3(SYNE2):c.16160G>C (p.Trp5387Ser)
|
|
|
|
NM_182914.3(SYNE2):c.16169A>T (p.Tyr5390Phe)
|
|
|
|
NM_182914.3(SYNE2):c.16178C>G (p.Ala5393Gly)
|
|
|
|
NM_182914.3(SYNE2):c.16234G>A (p.Ala5412Thr)
|
|
|
|
NM_182914.3(SYNE2):c.16270A>T (p.Ile5424Phe)
|
rs2098335261
|
|
|
NM_182914.3(SYNE2):c.16288C>G (p.Gln5430Glu)
|
|
|
|
NM_182914.3(SYNE2):c.16294A>G (p.Ile5432Val)
|
|
|
|
NM_182914.3(SYNE2):c.16339C>T (p.Leu5447Phe)
|
rs2153717796
|
|
|
NM_182914.3(SYNE2):c.16348T>G (p.Ser5450Ala)
|
rs916780390
|
|
|
NM_182914.3(SYNE2):c.16349C>G (p.Ser5450Cys)
|
rs757857559
|
|
|
NM_182914.3(SYNE2):c.16385C>T (p.Ser5462Phe)
|
|
|
|
NM_182914.3(SYNE2):c.16390A>G (p.Thr5464Ala)
|
|
|
|
NM_182914.3(SYNE2):c.16411C>G (p.Pro5471Ala)
|
|
|
|
NM_182914.3(SYNE2):c.16417C>T (p.His5473Tyr)
|
|
|
|
NM_182914.3(SYNE2):c.16449G>C (p.Lys5483Asn)
|
rs1324537542
|
|
|
NM_182914.3(SYNE2):c.16456C>T (p.Leu5486Phe)
|
|
|
|
NM_182914.3(SYNE2):c.16468A>C (p.Asn5490His)
|
rs776258589
|
|
|
NM_182914.3(SYNE2):c.16480-1G>A
|
rs1595931919
|
|
|
NM_182914.3(SYNE2):c.16505T>C (p.Phe5502Ser)
|
|
|
|
NM_182914.3(SYNE2):c.16510G>A (p.Val5504Ile)
|
rs1405152996
|
|
|
NM_182914.3(SYNE2):c.16514G>A (p.Arg5505Gln)
|
rs552897930
|
|
|
NM_182914.3(SYNE2):c.16526T>C (p.Leu5509Ser)
|
|
|
|
NM_182914.3(SYNE2):c.16554G>C (p.Glu5518Asp)
|
|
|
|
NM_182914.3(SYNE2):c.16568T>G (p.Leu5523Arg)
|
rs2153721084
|
|
|
NM_182914.3(SYNE2):c.16572_16574del (p.His5524del)
|
rs1176126760
|
|
|
NM_182914.3(SYNE2):c.16573C>A (p.Gln5525Lys)
|
|
|
|
NM_182914.3(SYNE2):c.16589A>G (p.Asn5530Ser)
|
rs1040531942
|
|
|
NM_182914.3(SYNE2):c.16595A>T (p.Asp5532Val)
|
|
|
|
NM_182914.3(SYNE2):c.16604T>A (p.Leu5535Gln)
|
rs2098368827
|
|
|
NM_182914.3(SYNE2):c.16607A>G (p.Asn5536Ser)
|
|
|
|
NM_182914.3(SYNE2):c.16636C>A (p.Pro5546Thr)
|
|
|
|
NM_182914.3(SYNE2):c.16642A>G (p.Ile5548Val)
|
|
|
|
NM_182914.3(SYNE2):c.16653G>T (p.Leu5551Phe)
|
|
|
|
NM_182914.3(SYNE2):c.16718G>T (p.Arg5573Leu)
|
|
|
|
NM_182914.3(SYNE2):c.16721A>G (p.Gln5574Arg)
|
|
|
|
NM_182914.3(SYNE2):c.1672A>G (p.Lys558Glu)
|
rs761401589
|
|
|
NM_182914.3(SYNE2):c.16734CACGGC[1] (p.5579TA[1])
|
|
|
|
NM_182914.3(SYNE2):c.16736C>T (p.Thr5579Met)
|
|
|
|
NM_182914.3(SYNE2):c.16742C>T (p.Thr5581Met)
|
|
|
|
NM_182914.3(SYNE2):c.16761-10A>G
|
rs2098386877
|
|
|
NM_182914.3(SYNE2):c.1676A>G (p.Gln559Arg)
|
rs764895998
|
|
|
NM_182914.3(SYNE2):c.16772G>T (p.Gly5591Val)
|
|
|
|
NM_182914.3(SYNE2):c.16816A>G (p.Ile5606Val)
|
rs1595946488
|
|
|
NM_182914.3(SYNE2):c.16837G>A (p.Glu5613Lys)
|
rs2153723228
|
|
|
NM_182914.3(SYNE2):c.16855G>A (p.Asp5619Asn)
|
rs1220986968
|
|
|
NM_182914.3(SYNE2):c.16905+2T>A
|
rs2098387803
|
|
|
NM_182914.3(SYNE2):c.16908G>A (p.Met5636Ile)
|
|
|
|
NM_182914.3(SYNE2):c.16924T>C (p.Ser5642Pro)
|
rs145661639
|
|
|
NM_182914.3(SYNE2):c.16924T>G (p.Ser5642Ala)
|
rs145661639
|
|
|
NM_182914.3(SYNE2):c.16939A>G (p.Ile5647Val)
|
|
|
|
NM_182914.3(SYNE2):c.16952A>T (p.Tyr5651Phe)
|
|
|
|
NM_182914.3(SYNE2):c.16994A>T (p.Glu5665Val)
|
|
|
|
NM_182914.3(SYNE2):c.17001A>G (p.Arg5667=)
|
|
|
|
NM_182914.3(SYNE2):c.17012T>C (p.Ile5671Thr)
|
|
|
|
NM_182914.3(SYNE2):c.1703G>T (p.Cys568Phe)
|
|
|
|
NM_182914.3(SYNE2):c.17065C>T (p.Arg5689Trp)
|
|
|
|
NM_182914.3(SYNE2):c.17066G>A (p.Arg5689Gln)
|
rs574093957
|
|
|
NM_182914.3(SYNE2):c.17068C>A (p.Gln5690Lys)
|
|
|
|
NM_182914.3(SYNE2):c.17119A>T (p.Thr5707Ser)
|
|
|
|
NM_182914.3(SYNE2):c.17125G>T (p.Val5709Leu)
|
rs753925813
|
|
|
NM_182914.3(SYNE2):c.17150C>G (p.Thr5717Ser)
|
|
|
|
NM_182914.3(SYNE2):c.17183G>A (p.Gly5728Asp)
|
|
|
|
NM_182914.3(SYNE2):c.17200C>G (p.Leu5734Val)
|
|
|
|
NM_182914.3(SYNE2):c.17235+1_17235+4del
|
|
|
|
NM_182914.3(SYNE2):c.17249A>G (p.His5750Arg)
|
|
|
|
NM_182914.3(SYNE2):c.17293G>A (p.Gly5765Arg)
|
|
|
|
NM_182914.3(SYNE2):c.17403G>A (p.Met5801Ile)
|
rs2098427539
|
|
|
NM_182914.3(SYNE2):c.17403G>C (p.Met5801Ile)
|
|
|
|
NM_182914.3(SYNE2):c.17431A>G (p.Thr5811Ala)
|
rs1596007501
|
|
|
NM_182914.3(SYNE2):c.17441A>G (p.Gln5814Arg)
|
|
|
|
NM_182914.3(SYNE2):c.17454A>T (p.Lys5818Asn)
|
|
|
|
NM_182914.3(SYNE2):c.17474G>C (p.Arg5825Thr)
|
|
|
|
NM_182914.3(SYNE2):c.17523C>A (p.His5841Gln)
|
|
|
|
NM_182914.3(SYNE2):c.17539G>C (p.Glu5847Gln)
|
rs201427580
|
|
|
NM_182914.3(SYNE2):c.17549T>C (p.Leu5850Pro)
|
|
|
|
NM_182914.3(SYNE2):c.17552T>G (p.Ile5851Ser)
|
|
|
|
NM_182914.3(SYNE2):c.17557G>A (p.Glu5853Lys)
|
|
|
|
NM_182914.3(SYNE2):c.17557G>C (p.Glu5853Gln)
|
rs1158170304
|
|
|
NM_182914.3(SYNE2):c.17570C>A (p.Ser5857Tyr)
|
|
|
|
NM_182914.3(SYNE2):c.17576C>T (p.Ala5859Val)
|
|
|
|
NM_182914.3(SYNE2):c.17583G>T (p.Trp5861Cys)
|
|
|
|
NM_182914.3(SYNE2):c.17589_17590del (p.Asn5864fs)
|
rs2098491533
|
|
|
NM_182914.3(SYNE2):c.1760G>T (p.Cys587Phe)
|
rs1555410673
|
|
|
NM_182914.3(SYNE2):c.17618C>T (p.Ala5873Val)
|
|
|
|
NM_182914.3(SYNE2):c.17629C>T (p.Arg5877Trp)
|
|
|
|
NM_182914.3(SYNE2):c.17712+1G>T
|
|
|
|
NM_182914.3(SYNE2):c.17712+5G>A
|
|
|
|
NM_182914.3(SYNE2):c.17712G>A (p.Arg5904=)
|
|
|
|
NM_182914.3(SYNE2):c.17713-2A>G
|
|
|
|
NM_182914.3(SYNE2):c.17722C>T (p.Arg5908Cys)
|
rs201147247
|
|
|
NM_182914.3(SYNE2):c.1774G>C (p.Val592Leu)
|
rs2153473289
|
|
|
NM_182914.3(SYNE2):c.1774G>T (p.Val592Leu)
|
rs2153473289
|
|
|
NM_182914.3(SYNE2):c.17812A>G (p.Asn5938Asp)
|
|
|
|
NM_182914.3(SYNE2):c.17815A>C (p.Lys5939Gln)
|
|
|
|
NM_182914.3(SYNE2):c.17836A>T (p.Ile5946Phe)
|
|
|
|
NM_182914.3(SYNE2):c.1786C>A (p.Arg596Ser)
|
|
|
|
NM_182914.3(SYNE2):c.1786C>T (p.Arg596Cys)
|
|
|
|
NM_182914.3(SYNE2):c.1787G>A (p.Arg596His)
|
rs764379968
|
|
|
NM_182914.3(SYNE2):c.17889A>G (p.Ile5963Met)
|
|
|
|
NM_182914.3(SYNE2):c.17902G>C (p.Glu5968Gln)
|
|
|
|
NM_182914.3(SYNE2):c.17908A>T (p.Lys5970Ter)
|
rs2098511234
|
|
|
NM_182914.3(SYNE2):c.17927T>C (p.Met5976Thr)
|
|
|
|
NM_182914.3(SYNE2):c.1792C>A (p.Leu598Ile)
|
|
|
|
NM_182914.3(SYNE2):c.17940G>T (p.Leu5980Phe)
|
rs778928941
|
|
|
NM_182914.3(SYNE2):c.18015T>G (p.His6005Gln)
|
rs1323946751
|
|
|
NM_182914.3(SYNE2):c.18028A>G (p.Ile6010Val)
|
|
|
|
NM_182914.3(SYNE2):c.18075G>A (p.Gln6025=)
|
|
|
|
NM_182914.3(SYNE2):c.18085A>G (p.Lys6029Glu)
|
rs1016575974
|
|
|
NM_182914.3(SYNE2):c.18091A>G (p.Met6031Val)
|
rs2098581525
|
|
|
NM_182914.3(SYNE2):c.18098A>C (p.Asn6033Thr)
|
|
|
|
NM_182914.3(SYNE2):c.18114G>A (p.Leu6038=)
|
rs1567630913
|
|
|
NM_182914.3(SYNE2):c.18119G>A (p.Arg6040Gln)
|
|
|
|
NM_182914.3(SYNE2):c.18137C>A (p.Ser6046Tyr)
|
|
|
|
NM_182914.3(SYNE2):c.18145GTT[1] (p.Val6050del)
|
|
|
|
NM_182914.3(SYNE2):c.18148G>A (p.Val6050Ile)
|
|
|
|
NM_182914.3(SYNE2):c.18169C>G (p.Gln6057Glu)
|
rs919132800
|
|
|
NM_182914.3(SYNE2):c.18190G>T (p.Ala6064Ser)
|
rs182079744
|
|
|
NM_182914.3(SYNE2):c.1823A>G (p.Glu608Gly)
|
rs765250294
|
|
|
NM_182914.3(SYNE2):c.18262G>A (p.Asp6088Asn)
|
|
|
|
NM_182914.3(SYNE2):c.18274C>T (p.His6092Tyr)
|
rs891176573
|
|
|
NM_182914.3(SYNE2):c.18302C>T (p.Thr6101Ile)
|
|
|
|
NM_182914.3(SYNE2):c.18312_18316del (p.Ser6105fs)
|
rs1177756267
|
|
|
NM_182914.3(SYNE2):c.18324G>T (p.Gln6108His)
|
rs1761645258
|
|
|
NM_182914.3(SYNE2):c.18326C>T (p.Thr6109Ile)
|
rs1248550076
|
|
|
NM_182914.3(SYNE2):c.18389+15C>G
|
|
|
|
NM_182914.3(SYNE2):c.18390A>G (p.Lys6130=)
|
|
|
|
NM_182914.3(SYNE2):c.18394G>A (p.Glu6132Lys)
|
|
|
|
NM_182914.3(SYNE2):c.18394GAG[1] (p.Glu6133del)
|
|
|
|
NM_182914.3(SYNE2):c.18401C>T (p.Thr6134Met)
|
|
|
|
NM_182914.3(SYNE2):c.18417G>T (p.Gln6139His)
|
|
|
|
NM_182914.3(SYNE2):c.18427G>A (p.Asp6143Asn)
|
rs2140144167
|
|
|
NM_182914.3(SYNE2):c.18473C>G (p.Thr6158Arg)
|
|
|
|
NM_182914.3(SYNE2):c.18497A>T (p.Glu6166Val)
|
|
|
|
NM_182914.3(SYNE2):c.18553C>T (p.Gln6185Ter)
|
rs1171077128
|
|
|
NM_182914.3(SYNE2):c.18560A>G (p.His6187Arg)
|
|
|
|
NM_182914.3(SYNE2):c.18576G>C (p.Gln6192His)
|
|
|
|
NM_182914.3(SYNE2):c.1860G>C (p.Gln620His)
|
|
|
|
NM_182914.3(SYNE2):c.18640A>G (p.Arg6214Gly)
|
rs2098631907
|
|
|
NM_182914.3(SYNE2):c.18653T>C (p.Met6218Thr)
|
|
|
|
NM_182914.3(SYNE2):c.18662A>G (p.Glu6221Gly)
|
rs1410409309
|
|
|
NM_182914.3(SYNE2):c.18674G>A (p.Arg6225His)
|
rs749491228
|
|
|
NM_182914.3(SYNE2):c.18674G>T (p.Arg6225Leu)
|
|
|
|
NM_182914.3(SYNE2):c.18767G>A (p.Ser6256Asn)
|
|
|
|
NM_182914.3(SYNE2):c.1876G>A (p.Ala626Thr)
|
rs766378548
|
|
|
NM_182914.3(SYNE2):c.18789_18790del (p.Glu6263fs)
|
|
|
|
NM_182914.3(SYNE2):c.18797T>G (p.Leu6266Arg)
|
|
|
|
NM_182914.3(SYNE2):c.1879A>G (p.Thr627Ala)
|
rs1189381604
|
|
|
NM_182914.3(SYNE2):c.18829A>G (p.Ser6277Gly)
|
|
|
|
NM_182914.3(SYNE2):c.1882T>G (p.Leu628Val)
|
|
|
|
NM_182914.3(SYNE2):c.18861T>C (p.Asn6287=)
|
|
|
|
NM_182914.3(SYNE2):c.18889A>T (p.Thr6297Ser)
|
|
|
|
NM_182914.3(SYNE2):c.18911T>C (p.Ile6304Thr)
|
|
|
|
NM_182914.3(SYNE2):c.18922G>A (p.Glu6308Lys)
|
|
|
|
NM_182914.3(SYNE2):c.18941G>T (p.Ser6314Ile)
|
rs548600640
|
|
|
NM_182914.3(SYNE2):c.18943G>A (p.Glu6315Lys)
|
|
|
|
NM_182914.3(SYNE2):c.18991C>T (p.Arg6331Cys)
|
|
|
|
NM_182914.3(SYNE2):c.18998G>A (p.Cys6333Tyr)
|
rs768044506
|
|
|
NM_182914.3(SYNE2):c.18G>C (p.Glu6Asp)
|
rs2095442604
|
|
|
NM_182914.3(SYNE2):c.19011T>G (p.Phe6337Leu)
|
rs761432348
|
|
|
NM_182914.3(SYNE2):c.19016G>A (p.Arg6339Lys)
|
|
|
|
NM_182914.3(SYNE2):c.19037G>T (p.Arg6346Leu)
|
rs144633663
|
|
|
NM_182914.3(SYNE2):c.1903T>G (p.Leu635Val)
|
|
|
|
NM_182914.3(SYNE2):c.1909G>A (p.Glu637Lys)
|
|
|
|
NM_182914.3(SYNE2):c.19115A>T (p.Glu6372Val)
|
|
|
|
NM_182914.3(SYNE2):c.19159C>A (p.Pro6387Thr)
|
|
|
|
NM_182914.3(SYNE2):c.19219G>A (p.Glu6407Lys)
|
|
|
|
NM_182914.3(SYNE2):c.19289C>G (p.Ser6430Cys)
|
rs2098656312
|
|
|
NM_182914.3(SYNE2):c.19297G>C (p.Glu6433Gln)
|
|
|
|
NM_182914.3(SYNE2):c.19309G>A (p.Gly6437Ser)
|
|
|
|
NM_182914.3(SYNE2):c.1930_1931delinsAA (p.Gly644Lys)
|
|
|
|
NM_182914.3(SYNE2):c.19310G>A (p.Gly6437Asp)
|
rs1555551887
|
|
|
NM_182914.3(SYNE2):c.19324G>A (p.Ala6442Thr)
|
|
|
|
NM_182914.3(SYNE2):c.19328T>C (p.Leu6443Pro)
|
rs1555551908
|
|
|
NM_182914.3(SYNE2):c.19336G>A (p.Val6446Ile)
|
|
|
|
NM_182914.3(SYNE2):c.1933T>A (p.Ser645Thr)
|
rs770407837
|
|
|
NM_182914.3(SYNE2):c.1933T>C (p.Ser645Pro)
|
|
|
|
NM_182914.3(SYNE2):c.19345C>A (p.Pro6449Thr)
|
|
|
|
NM_182914.3(SYNE2):c.19346C>G (p.Pro6449Arg)
|
|
|
|
NM_182914.3(SYNE2):c.1937C>G (p.Ser646Cys)
|
|
|
|
NM_182914.3(SYNE2):c.19391A>C (p.Lys6464Thr)
|
rs1555552449
|
|
|
NM_182914.3(SYNE2):c.19400C>T (p.Ser6467Phe)
|
|
|
|
NM_182914.3(SYNE2):c.19402+18C>T
|
rs2140269081
|
|
|
NM_182914.3(SYNE2):c.19417G>A (p.Asp6473Asn)
|
|
|
|
NM_182914.3(SYNE2):c.19441G>A (p.Asp6481Asn)
|
rs202052357
|
|
|
NM_182914.3(SYNE2):c.19441G>C (p.Asp6481His)
|
rs202052357
|
|
|
NM_182914.3(SYNE2):c.19465C>T (p.His6489Tyr)
|
|
|
|
NM_182914.3(SYNE2):c.19493A>T (p.Asn6498Ile)
|
|
|
|
NM_182914.3(SYNE2):c.19523C>G (p.Thr6508Ser)
|
rs2098666518
|
|
|
NM_182914.3(SYNE2):c.19538C>G (p.Pro6513Arg)
|
|
|
|
NM_182914.3(SYNE2):c.19538C>T (p.Pro6513Leu)
|
|
|
|
NM_182914.3(SYNE2):c.19539del (p.Tyr6514fs)
|
rs2140289822
|
|
|
NM_182914.3(SYNE2):c.19541A>G (p.Tyr6514Cys)
|
|
|
|
NM_182914.3(SYNE2):c.19543-8C>A
|
rs746189092
|
|
|
NM_182914.3(SYNE2):c.19549CTA[1] (p.Leu6519del)
|
rs886043261
|
|
|
NM_182914.3(SYNE2):c.19558C>G (p.Pro6520Ala)
|
rs2098676992
|
|
|
NM_182914.3(SYNE2):c.19561C>G (p.Pro6521Ala)
|
|
|
|
NM_182914.3(SYNE2):c.19568C>T (p.Thr6523Met)
|
|
|
|
NM_182914.3(SYNE2):c.19570G>C (p.Asp6524His)
|
|
|
|
NM_182914.3(SYNE2):c.19628G>T (p.Gly6543Val)
|
|
|
|
NM_182914.3(SYNE2):c.19630C>G (p.Leu6544Val)
|
|
|
|
NM_182914.3(SYNE2):c.19646A>G (p.Glu6549Gly)
|
rs1567679516
|
|
|
NM_182914.3(SYNE2):c.19658G>A (p.Gly6553Asp)
|
rs1005373982
|
|
|
NM_182914.3(SYNE2):c.19691A>G (p.Gln6564Arg)
|
rs1567682749
|
|
|
NM_182914.3(SYNE2):c.19697T>C (p.Leu6566Pro)
|
|
|
|
NM_182914.3(SYNE2):c.19703A>G (p.Asn6568Ser)
|
|
|
|
NM_182914.3(SYNE2):c.19723_19724del (p.Asn6575fs)
|
rs2140352990
|
|
|
NM_182914.3(SYNE2):c.19738A>G (p.Asn6580Asp)
|
|
|
|
NM_182914.3(SYNE2):c.19741T>G (p.Ser6581Ala)
|
rs2140353373
|
|
|
NM_182914.3(SYNE2):c.19745A>G (p.Asp6582Gly)
|
|
|
|
NM_182914.3(SYNE2):c.19752C>G (p.Ser6584Arg)
|
|
|
|
NM_182914.3(SYNE2):c.19753G>A (p.Ala6585Thr)
|
|
|
|
NM_182914.3(SYNE2):c.19763C>T (p.Thr6588Ile)
|
rs752030533
|
|
|
NM_182914.3(SYNE2):c.19780G>A (p.Glu6594Lys)
|
|
|
|
NM_182914.3(SYNE2):c.19783G>A (p.Ala6595Thr)
|
|
|
|
NM_182914.3(SYNE2):c.19806_19813del (p.Met6602fs)
|
rs2098683425
|
|
|
NM_182914.3(SYNE2):c.1984G>C (p.Val662Leu)
|
|
|
|
NM_182914.3(SYNE2):c.19850A>G (p.Lys6617Arg)
|
|
|
|
NM_182914.3(SYNE2):c.19864A>G (p.Ile6622Val)
|
|
|
|
NM_182914.3(SYNE2):c.19903T>C (p.Ser6635Pro)
|
|
|
|
NM_182914.3(SYNE2):c.19920C>A (p.Ser6640Arg)
|
|
|
|
NM_182914.3(SYNE2):c.19967G>C (p.Ser6656Thr)
|
|
|
|
NM_182914.3(SYNE2):c.19973T>A (p.Leu6658His)
|
rs1555558485
|
|
|
NM_182914.3(SYNE2):c.19976G>A (p.Arg6659His)
|
|
|
|
NM_182914.3(SYNE2):c.19985G>T (p.Ser6662Ile)
|
rs2098689595
|
|
|
NM_182914.3(SYNE2):c.19986C>G (p.Ser6662Arg)
|
|
|
|
NM_182914.3(SYNE2):c.20021G>A (p.Ser6674Asn)
|
|
|
|
NM_182914.3(SYNE2):c.20029G>A (p.Gly6677Arg)
|
rs767622970
|
|
|
NM_182914.3(SYNE2):c.20038C>T (p.Arg6680Ter)
|
rs753598628
|
|
|
NM_182914.3(SYNE2):c.20041C>T (p.Gln6681Ter)
|
rs2098689813
|
|
|
NM_182914.3(SYNE2):c.2009A>G (p.Asn670Ser)
|
|
|
|
NM_182914.3(SYNE2):c.20102C>T (p.Ala6701Val)
|
rs769553105
|
|
|
NM_182914.3(SYNE2):c.20144C>T (p.Pro6715Leu)
|
|
|
|
NM_182914.3(SYNE2):c.20150C>G (p.Ala6717Gly)
|
|
|
|
NM_182914.3(SYNE2):c.20172_20173insAAGCCAAATGACTTGCAGGAATGGAGAGCCACAGTCCACAGAACTGAGGACATAGGTGCTCTCGATATCC (p.Cys6725fs)
|
rs1567693129
|
|
|
NM_182914.3(SYNE2):c.20257C>T (p.Leu6753Phe)
|
rs2140451342
|
|
|
NM_182914.3(SYNE2):c.20296GAA[1] (p.Glu6767del)
|
rs2098703250
|
|
|
NM_182914.3(SYNE2):c.2031dup (p.Gln678fs)
|
rs750736888
|
|
|
NM_182914.3(SYNE2):c.20338C>G (p.Arg6780Gly)
|
rs138437515
|
|
|
NM_182914.3(SYNE2):c.20338C>T (p.Arg6780Trp)
|
rs138437515
|
|
|
NM_182914.3(SYNE2):c.20339G>T (p.Arg6780Leu)
|
|
|
|
NM_182914.3(SYNE2):c.20366C>A (p.Ala6789Asp)
|
rs765411016
|
|
|
NM_182914.3(SYNE2):c.20382+1G>A
|
rs113757671
|
|
|
NM_182914.3(SYNE2):c.20387C>T (p.Pro6796Leu)
|
|
|
|
NM_182914.3(SYNE2):c.20395C>T (p.Pro6799Ser)
|
|
|
|
NM_182914.3(SYNE2):c.20449G>A (p.Val6817Met)
|
rs202235545
|
|
|
NM_182914.3(SYNE2):c.20449G>T (p.Val6817Leu)
|
rs202235545
|
|
|
NM_182914.3(SYNE2):c.2044A>C (p.Thr682Pro)
|
rs1594659210
|
|
|
NM_182914.3(SYNE2):c.20461C>T (p.Arg6821Ter)
|
rs1423117372
|
|
|
NM_182914.3(SYNE2):c.20494G>A (p.Gly6832Ser)
|
rs368740030
|
|
|
NM_182914.3(SYNE2):c.20497GAG[2] (p.Glu6835del)
|
rs780096549
|
|
|
NM_182914.3(SYNE2):c.20499_20516+4dup
|
rs2098712389
|
|
|
NM_182914.3(SYNE2):c.20516+5C>T
|
|
|
|
NM_182914.3(SYNE2):c.20521C>T (p.Pro6841Ser)
|
rs1356063795
|
|
|
NM_182914.3(SYNE2):c.20524G>A (p.Gly6842Ser)
|
rs201538331
|
|
|
NM_182914.3(SYNE2):c.20534G>A (p.Arg6845Gln)
|
|
|
|
NM_182914.3(SYNE2):c.2054A>G (p.Asn685Ser)
|
|
|
|
NM_182914.3(SYNE2):c.20566C>T (p.Arg6856Trp)
|
|
|
|
NM_182914.3(SYNE2):c.20567G>T (p.Arg6856Leu)
|
rs756327978
|
|
|
NM_182914.3(SYNE2):c.20578C>A (p.Pro6860Thr)
|
rs1284163131
|
|
|
NM_182914.3(SYNE2):c.20595_20612del (p.Leu6866_Leu6871del)
|
rs750984033
|
|
|
NM_182914.3(SYNE2):c.20608C>T (p.Leu6870Phe)
|
|
|
|
NM_182914.3(SYNE2):c.20632_20634delinsGAA (p.Ser6878Glu)
|
rs1555564487
|
|
|
NM_182914.3(SYNE2):c.20635G>A (p.Glu6879Lys)
|
rs371152824
|
|
|
NM_182914.3(SYNE2):c.20636A>T (p.Glu6879Val)
|
rs757149542
|
|
|
NM_182914.3(SYNE2):c.20637AGA[1] (p.Glu6880del)
|
rs781275793
|
|
|
NM_182914.3(SYNE2):c.20641G>C (p.Asp6881His)
|
rs1345320685
|
|
|
NM_182914.3(SYNE2):c.20674C>T (p.Arg6892Trp)
|
rs534020975
|
|
|
NM_182914.3(SYNE2):c.20675G>A (p.Arg6892Gln)
|
rs774785412
|
|
|
NM_182914.3(SYNE2):c.20693T>G (p.Leu6898Arg)
|
rs2098715170
|
|
|
NM_182914.3(SYNE2):c.20711C>T (p.Pro6904Leu)
|
|
|
|
NM_182914.3(SYNE2):c.20718dup (p.Thr6907fs)
|
|
|
|
NM_182914.3(SYNE2):c.2082G>T (p.Glu694Asp)
|
rs2096604651
|
|
|
NM_182914.3(SYNE2):c.2125C>T (p.Pro709Ser)
|
rs749973572
|
|
|
NM_182914.3(SYNE2):c.2156G>C (p.Gly719Ala)
|
rs2096626654
|
|
|
NM_182914.3(SYNE2):c.2165A>G (p.His722Arg)
|
|
|
|
NM_182914.3(SYNE2):c.2198T>G (p.Leu733Arg)
|
|
|
|
NM_182914.3(SYNE2):c.2203G>A (p.Val735Met)
|
rs994577244
|
|
|
NM_182914.3(SYNE2):c.2233C>G (p.Gln745Glu)
|
rs2153479422
|
|
|
NM_182914.3(SYNE2):c.2279A>G (p.Asp760Gly)
|
rs1594681467
|
|
|
NM_182914.3(SYNE2):c.2284G>A (p.Val762Met)
|
|
|
|
NM_182914.3(SYNE2):c.2291C>T (p.Thr764Ile)
|
rs2153479469
|
|
|
NM_182914.3(SYNE2):c.2313+1G>A
|
rs2096627723
|
|
|
NM_182914.3(SYNE2):c.2314-12T>G
|
|
|
|
NM_182914.3(SYNE2):c.2314-14A>G
|
|
|
|
NM_182914.3(SYNE2):c.2337G>A (p.Met779Ile)
|
|
|
|
NM_182914.3(SYNE2):c.2351T>G (p.Met784Arg)
|
|
|
|
NM_182914.3(SYNE2):c.2354C>T (p.Ala785Val)
|
rs2153485003
|
|
|
NM_182914.3(SYNE2):c.2360G>C (p.Ser787Thr)
|
|
|
|
NM_182914.3(SYNE2):c.237+6A>T
|
|
|
|
NM_182914.3(SYNE2):c.238C>T (p.Pro80Ser)
|
rs1595771772
|
|
|
NM_182914.3(SYNE2):c.2426C>T (p.Thr809Ile)
|
|
|
|
NM_182914.3(SYNE2):c.2429C>G (p.Thr810Ser)
|
|
|
|
NM_182914.3(SYNE2):c.2441C>T (p.Ala814Val)
|
|
|
|
NM_182914.3(SYNE2):c.2472+3C>A
|
|
|
|
NM_182914.3(SYNE2):c.2472+5C>G
|
rs537534571
|
|
|
NM_182914.3(SYNE2):c.2472G>T (p.Gln824His)
|
rs760909392
|
|
|
NM_182914.3(SYNE2):c.2489T>G (p.Leu830Arg)
|
rs868572266
|
|
|
NM_182914.3(SYNE2):c.2492T>C (p.Ile831Thr)
|
|
|
|
NM_182914.3(SYNE2):c.2498C>T (p.Ala833Val)
|
rs200503488
|
|
|
NM_182914.3(SYNE2):c.2525C>A (p.Pro842Gln)
|
rs1230958792
|
|
|
NM_182914.3(SYNE2):c.2563A>G (p.Lys855Glu)
|
|
|
|
NM_182914.3(SYNE2):c.256A>G (p.Asn86Asp)
|
|
|
|
NM_182914.3(SYNE2):c.2591C>T (p.Ala864Val)
|
|
|
|
NM_182914.3(SYNE2):c.2593del (p.Gln865fs)
|
rs2153485914
|
|
|
NM_182914.3(SYNE2):c.2596C>A (p.Gln866Lys)
|
|
|
|
NM_182914.3(SYNE2):c.2650G>A (p.Ala884Thr)
|
|
|
|
NM_182914.3(SYNE2):c.2672A>G (p.Lys891Arg)
|
|
|
|
NM_182914.3(SYNE2):c.2722A>C (p.Thr908Pro)
|
|
|
|
NM_182914.3(SYNE2):c.2727G>T (p.Glu909Asp)
|
rs2096689999
|
|
|
NM_182914.3(SYNE2):c.2738T>C (p.Met913Thr)
|
rs770869083
|
|
|
NM_182914.3(SYNE2):c.2746G>A (p.Glu916Lys)
|
rs2096690257
|
|
|
NM_182914.3(SYNE2):c.2779G>C (p.Glu927Gln)
|
|
|
|
NM_182914.3(SYNE2):c.2806T>C (p.Tyr936His)
|
|
|
|
NM_182914.3(SYNE2):c.2815C>A (p.Gln939Lys)
|
|
|
|
NM_182914.3(SYNE2):c.2831T>C (p.Ile944Thr)
|
|
|
|
NM_182914.3(SYNE2):c.2844G>C (p.Lys948Asn)
|
|
|
|
NM_182914.3(SYNE2):c.2857A>G (p.Ile953Val)
|
rs2096703120
|
|
|
NM_182914.3(SYNE2):c.2899A>G (p.Ile967Val)
|
|
|
|
NM_182914.3(SYNE2):c.28G>C (p.Glu10Gln)
|
rs781375790
|
|
|
NM_182914.3(SYNE2):c.2908G>A (p.Gly970Arg)
|
rs767335788
|
|
|
NM_182914.3(SYNE2):c.290C>G (p.Ala97Gly)
|
|
|
|
NM_182914.3(SYNE2):c.2942C>T (p.Ala981Val)
|
rs1466945953
|
|
|
NM_182914.3(SYNE2):c.2972A>C (p.Gln991Pro)
|
|
|
|
NM_182914.3(SYNE2):c.3042A>T (p.Glu1014Asp)
|
rs750783509
|
|
|
NM_182914.3(SYNE2):c.3076A>T (p.Ile1026Leu)
|
rs1395621217
|
|
|
NM_182914.3(SYNE2):c.3113T>C (p.Met1038Thr)
|
rs2096719569
|
|
|
NM_182914.3(SYNE2):c.3140C>T (p.Thr1047Met)
|
|
|
|
NM_182914.3(SYNE2):c.3152+5G>T
|
|
|
|
NM_182914.3(SYNE2):c.3152A>G (p.Glu1051Gly)
|
|
|
|
NM_182914.3(SYNE2):c.316-2A>G
|
rs2153417734
|
|
|
NM_182914.3(SYNE2):c.3160A>T (p.Ile1054Phe)
|
|
|
|
NM_182914.3(SYNE2):c.3176A>G (p.Asn1059Ser)
|
|
|
|
NM_182914.3(SYNE2):c.3177T>G (p.Asn1059Lys)
|
rs1594758891
|
|
|
NM_182914.3(SYNE2):c.3197_3207del (p.Ser1066fs)
|
|
|
|
NM_182914.3(SYNE2):c.3247A>G (p.Met1083Val)
|
rs1335909602
|
|
|
NM_182914.3(SYNE2):c.3275C>T (p.Ala1092Val)
|
rs1555421275
|
|
|
NM_182914.3(SYNE2):c.3287G>A (p.Arg1096Lys)
|
rs2096728053
|
|
|
NM_182914.3(SYNE2):c.330_333del (p.Ile111fs)
|
|
|
|
NM_182914.3(SYNE2):c.3354-3C>T
|
|
|
|
NM_182914.3(SYNE2):c.3362C>A (p.Thr1121Lys)
|
rs2153500223
|
|
|
NM_182914.3(SYNE2):c.3395A>T (p.Asn1132Ile)
|
rs1175611635
|
|
|
NM_182914.3(SYNE2):c.3407G>T (p.Arg1136Met)
|
|
|
|
NM_182914.3(SYNE2):c.3416C>T (p.Ser1139Phe)
|
|
|
|
NM_182914.3(SYNE2):c.3425C>G (p.Ser1142Cys)
|
|
|
|
NM_182914.3(SYNE2):c.3445A>C (p.Ser1149Arg)
|
rs2096734093
|
|
|
NM_182914.3(SYNE2):c.3452G>A (p.Cys1151Tyr)
|
rs1555421819
|
|
|
NM_182914.3(SYNE2):c.3472G>C (p.Asp1158His)
|
rs750773485
|
|
|
NM_182914.3(SYNE2):c.3486A>G (p.Ile1162Met)
|
|
|
|
NM_182914.3(SYNE2):c.3506G>T (p.Arg1169Leu)
|
rs200437377
|
|
|
NM_182914.3(SYNE2):c.3541del (p.Glu1181fs)
|
rs2096746644
|
|
|
NM_182914.3(SYNE2):c.3550G>C (p.Val1184Leu)
|
|
|
|
NM_182914.3(SYNE2):c.3577A>G (p.Ile1193Val)
|
|
|
|
NM_182914.3(SYNE2):c.358A>C (p.Asn120His)
|
rs1595773305
|
|
|
NM_182914.3(SYNE2):c.3611G>A (p.Arg1204Lys)
|
|
|
|
NM_182914.3(SYNE2):c.3631A>G (p.Asn1211Asp)
|
rs2096747451
|
|
|
NM_182914.3(SYNE2):c.3641T>C (p.Met1214Thr)
|
|
|
|
NM_182914.3(SYNE2):c.3688G>A (p.Ala1230Thr)
|
rs1294862758
|
|
|
NM_182914.3(SYNE2):c.3730A>G (p.Met1244Val)
|
rs886042631
|
|
|
NM_182914.3(SYNE2):c.3739C>A (p.Gln1247Lys)
|
rs1594783691
|
|
|
NM_182914.3(SYNE2):c.3766C>T (p.Arg1256Cys)
|
|
|
|
NM_182914.3(SYNE2):c.3788A>C (p.Asn1263Thr)
|
rs1021504217
|
|
|
NM_182914.3(SYNE2):c.3794A>G (p.Gln1265Arg)
|
rs759543992
|
|
|
NM_182914.3(SYNE2):c.3797A>G (p.Asp1266Gly)
|
rs752582359
|
|
|
NM_182914.3(SYNE2):c.3812A>G (p.Gln1271Arg)
|
rs2096765172
|
|
|
NM_182914.3(SYNE2):c.3824G>A (p.Cys1275Tyr)
|
rs1309435421
|
|
|
NM_182914.3(SYNE2):c.3853G>T (p.Val1285Leu)
|
|
|
|
NM_182914.3(SYNE2):c.3870C>G (p.His1290Gln)
|
|
|
|
NM_182914.3(SYNE2):c.3871C>G (p.Pro1291Ala)
|
|
|
|
NM_182914.3(SYNE2):c.3875T>C (p.Phe1292Ser)
|
rs2096765769
|
|
|
NM_182914.3(SYNE2):c.3880C>A (p.Leu1294Ile)
|
|
|
|
NM_182914.3(SYNE2):c.3883C>A (p.His1295Asn)
|
rs749089209
|
|
|
NM_182914.3(SYNE2):c.3885C>G (p.His1295Gln)
|
rs570341792
|
|
|
NM_182914.3(SYNE2):c.3903A>G (p.Ile1301Met)
|
|
|
|
NM_182914.3(SYNE2):c.3916A>G (p.Thr1306Ala)
|
rs2096766111
|
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|
NM_182914.3(SYNE2):c.3950_3961del (p.Arg1317_Asp1320del)
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NM_182914.3(SYNE2):c.3953G>C (p.Ser1318Thr)
|
rs2153505738
|
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|
NM_182914.3(SYNE2):c.39G>T (p.Gln13His)
|
rs1187262903
|
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|
NM_182914.3(SYNE2):c.4027A>G (p.Thr1343Ala)
|
rs2096767067
|
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NM_182914.3(SYNE2):c.4070C>A (p.Thr1357Lys)
|
rs769845003
|
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NM_182914.3(SYNE2):c.407A>T (p.His136Leu)
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|
NM_182914.3(SYNE2):c.4092G>C (p.Glu1364Asp)
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|
NM_182914.3(SYNE2):c.4102C>G (p.His1368Asp)
|
rs1166480761
|
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NM_182914.3(SYNE2):c.4114G>T (p.Asp1372Tyr)
|
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|
NM_182914.3(SYNE2):c.4136A>G (p.Lys1379Arg)
|
rs2153505913
|
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NM_182914.3(SYNE2):c.4178G>T (p.Arg1393Leu)
|
|
|
|
NM_182914.3(SYNE2):c.4196G>A (p.Cys1399Tyr)
|
|
|
|
NM_182914.3(SYNE2):c.4219dup (p.Ser1407fs)
|
rs1567023881
|
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NM_182914.3(SYNE2):c.4228T>G (p.Leu1410Val)
|
|
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|
NM_182914.3(SYNE2):c.4242T>A (p.His1414Gln)
|
|
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|
NM_182914.3(SYNE2):c.4249G>A (p.Gly1417Arg)
|
|
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|
NM_182914.3(SYNE2):c.424C>G (p.Gln142Glu)
|
rs2096122537
|
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|
NM_182914.3(SYNE2):c.4351A>G (p.Ser1451Gly)
|
rs535438406
|
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NM_182914.3(SYNE2):c.4367A>G (p.Lys1456Arg)
|
rs373113826
|
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|
NM_182914.3(SYNE2):c.4370A>G (p.Asp1457Gly)
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|
|
|
NM_182914.3(SYNE2):c.438C>G (p.Cys146Trp)
|
rs765943821
|
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NM_182914.3(SYNE2):c.4406C>G (p.Ser1469Ter)
|
rs1191099437
|
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|
NM_182914.3(SYNE2):c.440A>G (p.Asn147Ser)
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|
|
|
NM_182914.3(SYNE2):c.4418T>G (p.Leu1473Arg)
|
rs772693998
|
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|
NM_182914.3(SYNE2):c.4432G>C (p.Asp1478His)
|
rs1423801252
|
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|
NM_182914.3(SYNE2):c.4457A>G (p.His1486Arg)
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|
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|
NM_182914.3(SYNE2):c.446A>G (p.Asn149Ser)
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|
NM_182914.3(SYNE2):c.4471G>A (p.Ala1491Thr)
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NM_182914.3(SYNE2):c.4474A>G (p.Asn1492Asp)
|
rs759496296
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NM_182914.3(SYNE2):c.4576T>C (p.Cys1526Arg)
|
rs2153513257
|
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NM_182914.3(SYNE2):c.4577+6del
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NM_182914.3(SYNE2):c.4585C>T (p.Gln1529Ter)
|
rs2096831020
|
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NM_182914.3(SYNE2):c.4597G>T (p.Val1533Phe)
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NM_182914.3(SYNE2):c.4603G>C (p.Glu1535Gln)
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NM_182914.3(SYNE2):c.4640T>C (p.Leu1547Ser)
|
rs1594836938
|
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|
NM_182914.3(SYNE2):c.4646C>G (p.Thr1549Ser)
|
rs1223928872
|
|
|
NM_182914.3(SYNE2):c.4672A>G (p.Ile1558Val)
|
rs781515176
|
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|
NM_182914.3(SYNE2):c.4697G>A (p.Gly1566Glu)
|
rs906789317
|
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|
NM_182914.3(SYNE2):c.4699A>G (p.Lys1567Glu)
|
|
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|
NM_182914.3(SYNE2):c.4720A>G (p.Ile1574Val)
|
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NM_182914.3(SYNE2):c.4726G>A (p.Glu1576Lys)
|
|
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|
NM_182914.3(SYNE2):c.475G>T (p.Val159Phe)
|
rs1323596481
|
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NM_182914.3(SYNE2):c.4768G>T (p.Val1590Phe)
|
rs1018808319
|
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|
NM_182914.3(SYNE2):c.4769T>C (p.Val1590Ala)
|
rs1345072464
|
|
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NM_182914.3(SYNE2):c.476T>C (p.Val159Ala)
|
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|
|
NM_182914.3(SYNE2):c.4787A>C (p.Gln1596Pro)
|
rs2096893453
|
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|
NM_182914.3(SYNE2):c.478G>A (p.Asp160Asn)
|
rs1566887934
|
|
|
NM_182914.3(SYNE2):c.4799A>C (p.Asn1600Thr)
|
rs2096893538
|
|
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NM_182914.3(SYNE2):c.4810T>C (p.Tyr1604His)
|
|
|
|
NM_182914.3(SYNE2):c.4819A>G (p.Lys1607Glu)
|
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NM_182914.3(SYNE2):c.4826A>C (p.Lys1609Thr)
|
|
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NM_182914.3(SYNE2):c.4844C>A (p.Pro1615His)
|
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|
NM_182914.3(SYNE2):c.4861A>C (p.Asn1621His)
|
rs746284520
|
|
|
NM_182914.3(SYNE2):c.4864ATT[1] (p.Ile1623del)
|
rs1430734342
|
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NM_182914.3(SYNE2):c.4905A>C (p.Glu1635Asp)
|
|
|
|
NM_182914.3(SYNE2):c.4909T>C (p.Tyr1637His)
|
|
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|
NM_182914.3(SYNE2):c.4924G>A (p.Gly1642Ser)
|
rs1555431607
|
|
|
NM_182914.3(SYNE2):c.4927C>T (p.Arg1643Ter)
|
|
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|
NM_182914.3(SYNE2):c.4933C>G (p.Leu1645Val)
|
rs1555431632
|
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|
NM_182914.3(SYNE2):c.4964A>C (p.Lys1655Thr)
|
rs1594893225
|
|
|
NM_182914.3(SYNE2):c.5023A>G (p.Thr1675Ala)
|
|
|
|
NM_182914.3(SYNE2):c.5060A>G (p.Gln1687Arg)
|
rs1448142743
|
|
|
NM_182914.3(SYNE2):c.5066A>G (p.His1689Arg)
|
|
|
|
NM_182914.3(SYNE2):c.5068G>A (p.Glu1690Lys)
|
rs2096924669
|
|
|
NM_182914.3(SYNE2):c.5069A>G (p.Glu1690Gly)
|
|
|
|
NM_182914.3(SYNE2):c.5131G>A (p.Glu1711Lys)
|
|
|
|
NM_182914.3(SYNE2):c.5132A>G (p.Glu1711Gly)
|
|
|
|
NM_182914.3(SYNE2):c.5151+17_5151+18insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAATTTTTATTTA
|
|
|
|
NM_182914.3(SYNE2):c.5151+1G>T
|
rs2153531508
|
|
|
NM_182914.3(SYNE2):c.515G>T (p.Cys172Phe)
|
rs2096123588
|
|
|
NM_182914.3(SYNE2):c.5162C>T (p.Ser1721Phe)
|
|
|
|
NM_182914.3(SYNE2):c.5222A>G (p.His1741Arg)
|
rs1221262801
|
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|
NM_182914.3(SYNE2):c.5234G>A (p.Gly1745Asp)
|
|
|
|
NM_182914.3(SYNE2):c.5276C>G (p.Thr1759Ser)
|
|
|
|
NM_182914.3(SYNE2):c.5297C>T (p.Ser1766Phe)
|
|
|
|
NM_182914.3(SYNE2):c.5312T>C (p.Leu1771Pro)
|
|
|
|
NM_182914.3(SYNE2):c.5352+6A>G
|
rs572125775
|
|
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NM_182914.3(SYNE2):c.5422A>G (p.Thr1808Ala)
|
|
|
|
NM_182914.3(SYNE2):c.544del (p.Ser182fs)
|
rs2153430619
|
|
|
NM_182914.3(SYNE2):c.5500G>C (p.Asp1834His)
|
rs760548610
|
|
|
NM_182914.3(SYNE2):c.550A>G (p.Arg184Gly)
|
|
|
|
NM_182914.3(SYNE2):c.5545G>T (p.Asp1849Tyr)
|
|
|
|
NM_182914.3(SYNE2):c.55G>A (p.Asp19Asn)
|
|
|
|
NM_182914.3(SYNE2):c.5606dup (p.Ser1870fs)
|
|
|
|
NM_182914.3(SYNE2):c.5646G>T (p.Leu1882Phe)
|
rs747913558
|
|
|
NM_182914.3(SYNE2):c.5650C>T (p.Leu1884Phe)
|
|
|
|
NM_182914.3(SYNE2):c.566T>C (p.Leu189Ser)
|
|
|
|
NM_182914.3(SYNE2):c.5688C>A (p.Ser1896Arg)
|
|
|
|
NM_182914.3(SYNE2):c.5726A>G (p.His1909Arg)
|
rs750862490
|
|
|
NM_182914.3(SYNE2):c.5728G>A (p.Val1910Met)
|
rs2096960883
|
|
|
NM_182914.3(SYNE2):c.5729T>C (p.Val1910Ala)
|
rs758536054
|
|
|
NM_182914.3(SYNE2):c.5737C>T (p.Leu1913Phe)
|
rs780436538
|
|
|
NM_182914.3(SYNE2):c.5746T>G (p.Trp1916Gly)
|
|
|
|
NM_182914.3(SYNE2):c.5752G>A (p.Val1918Met)
|
rs199898588
|
|
|
NM_182914.3(SYNE2):c.5767G>A (p.Glu1923Lys)
|
|
|
|
NM_182914.3(SYNE2):c.5768A>T (p.Glu1923Val)
|
|
|
|
NM_182914.3(SYNE2):c.5776A>G (p.Lys1926Glu)
|
|
|
|
NM_182914.3(SYNE2):c.5792G>A (p.Cys1931Tyr)
|
rs2153537144
|
|
|
NM_182914.3(SYNE2):c.5796G>T (p.Gln1932His)
|
rs1567083049
|
|
|
NM_182914.3(SYNE2):c.5864T>C (p.Leu1955Pro)
|
|
|
|
NM_182914.3(SYNE2):c.5896T>C (p.Trp1966Arg)
|
|
|
|
NM_182914.3(SYNE2):c.58G>A (p.Asp20Asn)
|
|
|
|
NM_182914.3(SYNE2):c.58G>T (p.Asp20Tyr)
|
rs770930910
|
|
|
NM_182914.3(SYNE2):c.590+6T>C
|
rs1011848200
|
|
|
NM_182914.3(SYNE2):c.5906T>G (p.Met1969Arg)
|
rs4902264
|
|
|
NM_182914.3(SYNE2):c.590C>T (p.Thr197Ile)
|
|
|
|
NM_182914.3(SYNE2):c.5912A>G (p.Glu1971Gly)
|
|
|
|
NM_182914.3(SYNE2):c.5918G>C (p.Gly1973Ala)
|
|
|
|
NM_182914.3(SYNE2):c.6019GAA[3] (p.Glu2010del)
|
rs908642792
|
|
|
NM_182914.3(SYNE2):c.6063A>G (p.Arg2021=)
|
rs2096968604
|
|
|
NM_182914.3(SYNE2):c.6081A>T (p.Arg2027Ser)
|
|
|
|
NM_182914.3(SYNE2):c.6097G>A (p.Glu2033Lys)
|
|
|
|
NM_182914.3(SYNE2):c.6124G>A (p.Glu2042Lys)
|
|
|
|
NM_182914.3(SYNE2):c.6154G>C (p.Asp2052His)
|
|
|
|
NM_182914.3(SYNE2):c.6173A>G (p.Lys2058Arg)
|
|
|
|
NM_182914.3(SYNE2):c.6185A>G (p.Glu2062Gly)
|
|
|
|
NM_182914.3(SYNE2):c.6201G>C (p.Leu2067Phe)
|
rs2096969652
|
|
|
NM_182914.3(SYNE2):c.6211G>A (p.Glu2071Lys)
|
rs551783338
|
|
|
NM_182914.3(SYNE2):c.6250A>C (p.Lys2084Gln)
|
|
|
|
NM_182914.3(SYNE2):c.6252+3A>G
|
|
|
|
NM_182914.3(SYNE2):c.6307C>G (p.Gln2103Glu)
|
rs2096981266
|
|
|
NM_182914.3(SYNE2):c.6314A>G (p.Glu2105Gly)
|
|
|
|
NM_182914.3(SYNE2):c.6324G>C (p.Glu2108Asp)
|
|
|
|
NM_182914.3(SYNE2):c.6325G>A (p.Ala2109Thr)
|
rs1342257701
|
|
|
NM_182914.3(SYNE2):c.6328C>T (p.Pro2110Ser)
|
|
|
|
NM_182914.3(SYNE2):c.6383A>T (p.His2128Leu)
|
|
|
|
NM_182914.3(SYNE2):c.6384T>A (p.His2128Gln)
|
rs752995209
|
|
|
NM_182914.3(SYNE2):c.6412G>A (p.Glu2138Lys)
|
rs2153540879
|
|
|
NM_182914.3(SYNE2):c.644C>T (p.Ala215Val)
|
|
|
|
NM_182914.3(SYNE2):c.6466T>G (p.Leu2156Val)
|
rs2096990417
|
|
|
NM_182914.3(SYNE2):c.6476T>C (p.Ile2159Thr)
|
|
|
|
NM_182914.3(SYNE2):c.6485A>G (p.Lys2162Arg)
|
rs2096990635
|
|
|
NM_182914.3(SYNE2):c.6557A>C (p.Lys2186Thr)
|
|
|
|
NM_182914.3(SYNE2):c.6579A>T (p.Gln2193His)
|
rs373963217
|
|
|
NM_182914.3(SYNE2):c.6601G>A (p.Glu2201Lys)
|
|
|
|
NM_182914.3(SYNE2):c.6620A>G (p.Asn2207Ser)
|
rs2153541057
|
|
|
NM_182914.3(SYNE2):c.6621C>G (p.Asn2207Lys)
|
|
|
|
NM_182914.3(SYNE2):c.6658G>A (p.Glu2220Lys)
|
|
|
|
NM_182914.3(SYNE2):c.6674A>C (p.Glu2225Ala)
|
|
|
|
NM_182914.3(SYNE2):c.6676A>G (p.Ile2226Val)
|
rs2153541111
|
|
|
NM_182914.3(SYNE2):c.6708A>C (p.Gln2236His)
|
|
|
|
NM_182914.3(SYNE2):c.670C>T (p.Arg224Ter)
|
|
|
|
NM_182914.3(SYNE2):c.6714G>A (p.Gln2238=)
|
|
|
|
NM_182914.3(SYNE2):c.671G>A (p.Arg224Gln)
|
rs764128650
|
|
|
NM_182914.3(SYNE2):c.6735C>A (p.Asp2245Glu)
|
|
|
|
NM_182914.3(SYNE2):c.6752A>T (p.His2251Leu)
|
rs2153543846
|
|
|
NM_182914.3(SYNE2):c.6817G>C (p.Val2273Leu)
|
rs1274502678
|
|
|
NM_182914.3(SYNE2):c.6836C>T (p.Pro2279Leu)
|
rs2097019470
|
|
|
NM_182914.3(SYNE2):c.6879+5T>C
|
|
|
|
NM_182914.3(SYNE2):c.688A>G (p.Met230Val)
|
|
|
|
NM_182914.3(SYNE2):c.6907G>A (p.Asp2303Asn)
|
rs2097030466
|
|
|
NM_182914.3(SYNE2):c.6908A>G (p.Asp2303Gly)
|
|
|
|
NM_182914.3(SYNE2):c.690G>C (p.Met230Ile)
|
rs2096220312
|
|
|
NM_182914.3(SYNE2):c.697G>A (p.Val233Met)
|
rs2153436709
|
|
|
NM_182914.3(SYNE2):c.6991G>T (p.Asp2331Tyr)
|
rs2153545498
|
|
|
NM_182914.3(SYNE2):c.7156G>A (p.Val2386Met)
|
|
|
|
NM_182914.3(SYNE2):c.718G>A (p.Asp240Asn)
|
rs1226057811
|
|
|
NM_182914.3(SYNE2):c.7221+5G>C
|
|
|
|
NM_182914.3(SYNE2):c.7254A>C (p.Gln2418His)
|
rs984046422
|
|
|
NM_182914.3(SYNE2):c.7256T>C (p.Leu2419Pro)
|
rs2097198733
|
|
|
NM_182914.3(SYNE2):c.7268C>A (p.Ala2423Asp)
|
|
|
|
NM_182914.3(SYNE2):c.7318C>A (p.Gln2440Lys)
|
|
|
|
NM_182914.3(SYNE2):c.739A>G (p.Arg247Gly)
|
|
|
|
NM_182914.3(SYNE2):c.7417A>C (p.Lys2473Gln)
|
rs2097210469
|
|
|
NM_182914.3(SYNE2):c.744T>G (p.Ile248Met)
|
|
|
|
NM_182914.3(SYNE2):c.7451C>T (p.Thr2484Ile)
|
|
|
|
NM_182914.3(SYNE2):c.7467G>T (p.Leu2489Phe)
|
|
|
|
NM_182914.3(SYNE2):c.7478A>G (p.Asn2493Ser)
|
|
|
|
NM_182914.3(SYNE2):c.7489T>C (p.Ser2497Pro)
|
rs2153573752
|
|
|
NM_182914.3(SYNE2):c.7513C>T (p.Leu2505Phe)
|
rs749522550
|
|
|
NM_182914.3(SYNE2):c.7522C>T (p.Leu2508Phe)
|
rs1434034677
|
|
|
NM_182914.3(SYNE2):c.7526T>C (p.Ile2509Thr)
|
|
|
|
NM_182914.3(SYNE2):c.7536G>C (p.Lys2512Asn)
|
rs2097211326
|
|
|
NM_182914.3(SYNE2):c.7579G>A (p.Glu2527Lys)
|
rs1483967595
|
|
|
NM_182914.3(SYNE2):c.7601C>A (p.Ser2534Tyr)
|
rs749911464
|
|
|
NM_182914.3(SYNE2):c.7617G>T (p.Leu2539Phe)
|
rs200359168
|
|
|
NM_182914.3(SYNE2):c.7642G>A (p.Val2548Ile)
|
|
|
|
NM_182914.3(SYNE2):c.766C>T (p.Pro256Ser)
|
rs1195315926
|
|
|
NM_182914.3(SYNE2):c.7703A>G (p.Glu2568Gly)
|
rs1460075302
|
|
|
NM_182914.3(SYNE2):c.7718C>G (p.Ser2573Cys)
|
rs2097227855
|
|
|
NM_182914.3(SYNE2):c.772T>G (p.Leu258Val)
|
rs935787094
|
|
|
NM_182914.3(SYNE2):c.7748A>G (p.Asn2583Ser)
|
|
|
|
NM_182914.3(SYNE2):c.7760A>G (p.His2587Arg)
|
|
|
|
NM_182914.3(SYNE2):c.7768G>C (p.Asp2590His)
|
rs1555452706
|
|
|
NM_182914.3(SYNE2):c.7811A>T (p.Glu2604Val)
|
|
|
|
NM_182914.3(SYNE2):c.7816G>T (p.Gly2606Cys)
|
rs201069405
|
|
|
NM_182914.3(SYNE2):c.7875TGA[1] (p.Asp2626del)
|
|
|
|
NM_182914.3(SYNE2):c.7877A>G (p.Asp2626Gly)
|
rs2097229314
|
|
|
NM_182914.3(SYNE2):c.7880A>G (p.Glu2627Gly)
|
rs1440652896
|
|
|
NM_182914.3(SYNE2):c.7889C>A (p.Thr2630Asn)
|
rs1595152259
|
|
|
NM_182914.3(SYNE2):c.7895T>C (p.Met2632Thr)
|
|
|
|
NM_182914.3(SYNE2):c.79+3A>T
|
rs760448281
|
|
|
NM_182914.3(SYNE2):c.79+5T>A
|
rs776230510
|
|
|
NM_182914.3(SYNE2):c.7931_7932insTCTACAGTTGCAACA (p.Gln2643_Gln2644insHisLeuGlnLeuGln)
|
rs2097229779
|
|
|
NM_182914.3(SYNE2):c.7974A>C (p.Glu2658Asp)
|
rs2097230167
|
|
|
NM_182914.3(SYNE2):c.7976G>C (p.Arg2659Pro)
|
rs199561218
|
|
|
NM_182914.3(SYNE2):c.8000C>A (p.Ala2667Asp)
|
|
|
|
NM_182914.3(SYNE2):c.8000C>T (p.Ala2667Val)
|
|
|
|
NM_182914.3(SYNE2):c.8013C>G (p.Asp2671Glu)
|
rs1324986561
|
|
|
NM_182914.3(SYNE2):c.8019G>C (p.Gln2673His)
|
rs2097230524
|
|
|
NM_182914.3(SYNE2):c.8026A>G (p.Lys2676Glu)
|
rs756185609
|
|
|
NM_182914.3(SYNE2):c.802G>A (p.Asp268Asn)
|
rs1555400535
|
|
|
NM_182914.3(SYNE2):c.803A>T (p.Asp268Val)
|
rs1566917767
|
|
|
NM_182914.3(SYNE2):c.8042T>C (p.Val2681Ala)
|
|
|
|
NM_182914.3(SYNE2):c.8069T>C (p.Met2690Thr)
|
rs560226719
|
|
|
NM_182914.3(SYNE2):c.8125T>A (p.Leu2709Met)
|
|
|
|
NM_182914.3(SYNE2):c.8167_8172del (p.Ala2723_Glu2724del)
|
|
|
|
NM_182914.3(SYNE2):c.8257T>C (p.Ser2753Pro)
|
rs1214897374
|
|
|
NM_182914.3(SYNE2):c.8264C>G (p.Pro2755Arg)
|
|
|
|
NM_182914.3(SYNE2):c.8282T>C (p.Ile2761Thr)
|
|
|
|
NM_182914.3(SYNE2):c.8309T>C (p.Val2770Ala)
|
|
|
|
NM_182914.3(SYNE2):c.833T>C (p.Val278Ala)
|
|
|
|
NM_182914.3(SYNE2):c.8345T>C (p.Val2782Ala)
|
rs201852964
|
|
|
NM_182914.3(SYNE2):c.8351C>T (p.Ser2784Leu)
|
rs765459823
|
|
|
NM_182914.3(SYNE2):c.8377G>T (p.Val2793Phe)
|
rs747840683
|
|
|
NM_182914.3(SYNE2):c.8407G>A (p.Asp2803Asn)
|
|
|
|
NM_182914.3(SYNE2):c.8408A>G (p.Asp2803Gly)
|
|
|
|
NM_182914.3(SYNE2):c.8434C>T (p.Arg2812Trp)
|
|
|
|
NM_182914.3(SYNE2):c.8499G>T (p.Leu2833Phe)
|
rs2153576700
|
|
|
NM_182914.3(SYNE2):c.8512A>G (p.Asn2838Asp)
|
rs2153576715
|
|
|
NM_182914.3(SYNE2):c.8528T>A (p.Ile2843Lys)
|
|
|
|
NM_182914.3(SYNE2):c.8531G>A (p.Arg2844Lys)
|
|
|
|
NM_182914.3(SYNE2):c.8532_8535del (p.Arg2844fs)
|
rs2153576735
|
|
|
NM_182914.3(SYNE2):c.8584G>C (p.Glu2862Gln)
|
|
|
|
NM_182914.3(SYNE2):c.8591C>T (p.Ala2864Val)
|
rs2153576784
|
|
|
NM_182914.3(SYNE2):c.8626A>C (p.Thr2876Pro)
|
rs1322044514
|
|
|
NM_182914.3(SYNE2):c.865C>T (p.Pro289Ser)
|
rs1459614876
|
|
|
NM_182914.3(SYNE2):c.8698A>C (p.Asn2900His)
|
|
|
|
NM_182914.3(SYNE2):c.8698A>G (p.Asn2900Asp)
|
|
|
|
NM_182914.3(SYNE2):c.8726A>G (p.Glu2909Gly)
|
|
|
|
NM_182914.3(SYNE2):c.8756A>G (p.Asn2919Ser)
|
|
|
|
NM_182914.3(SYNE2):c.8764A>G (p.Ile2922Val)
|
|
|
|
NM_182914.3(SYNE2):c.8765T>C (p.Ile2922Thr)
|
rs2097236290
|
|
|
NM_182914.3(SYNE2):c.8798A>G (p.Asn2933Ser)
|
|
|
|
NM_182914.3(SYNE2):c.8819A>G (p.His2940Arg)
|
|
|
|
NM_182914.3(SYNE2):c.8834G>A (p.Cys2945Tyr)
|
|
|
|
NM_182914.3(SYNE2):c.8884A>G (p.Ile2962Val)
|
rs2153576994
|
|
|
NM_182914.3(SYNE2):c.8900T>C (p.Leu2967Pro)
|
|
|
|
NM_182914.3(SYNE2):c.8908A>G (p.Asn2970Asp)
|
|
|
|
NM_182914.3(SYNE2):c.896T>A (p.Val299Glu)
|
|
|
|
NM_182914.3(SYNE2):c.9004A>C (p.Lys3002Gln)
|
|
|
|
NM_182914.3(SYNE2):c.9034T>G (p.Trp3012Gly)
|
rs373784533
|
|
|
NM_182914.3(SYNE2):c.9037G>A (p.Asp3013Asn)
|
|
|
|
NM_182914.3(SYNE2):c.9048A>C (p.Gln3016His)
|
|
|
|
NM_182914.3(SYNE2):c.9065C>T (p.Thr3022Ile)
|
|
|
|
NM_182914.3(SYNE2):c.9081del (p.Glu3028fs)
|
rs1253969126
|
|
|
NM_182914.3(SYNE2):c.9085A>G (p.Lys3029Glu)
|
|
|
|
NM_182914.3(SYNE2):c.9144T>G (p.Tyr3048Ter)
|
rs1331113396
|
|
|
NM_182914.3(SYNE2):c.9157A>C (p.Ser3053Arg)
|
rs2153577267
|
|
|
NM_182914.3(SYNE2):c.9189G>C (p.Lys3063Asn)
|
|
|
|
NM_182914.3(SYNE2):c.9286T>C (p.Cys3096Arg)
|
rs2153577355
|
|
|
NM_182914.3(SYNE2):c.942G>T (p.Gln314His)
|
rs2096356090
|
|
|
NM_182914.3(SYNE2):c.9442G>A (p.Glu3148Lys)
|
|
|
|
NM_182914.3(SYNE2):c.9443A>T (p.Glu3148Val)
|
|
|
|
NM_182914.3(SYNE2):c.9466G>A (p.Asp3156Asn)
|
|
|
|
NM_182914.3(SYNE2):c.9478A>C (p.Thr3160Pro)
|
|
|
|
NM_182914.3(SYNE2):c.9508T>C (p.Ser3170Pro)
|
|
|
|
NM_182914.3(SYNE2):c.9509C>A (p.Ser3170Tyr)
|
|
|
|
NM_182914.3(SYNE2):c.9529C>T (p.Leu3177Phe)
|
rs780632657
|
|
|
NM_182914.3(SYNE2):c.9554T>C (p.Ile3185Thr)
|
|
|
|
NM_182914.3(SYNE2):c.9558A>C (p.Gln3186His)
|
rs776801026
|
|
|
NM_182914.3(SYNE2):c.9576T>G (p.Cys3192Trp)
|
|
|
|
NM_182914.3(SYNE2):c.9610T>G (p.Cys3204Gly)
|
rs531451940
|
|
|
NM_182914.3(SYNE2):c.9634A>G (p.Ile3212Val)
|
|
|
|
NM_182914.3(SYNE2):c.9670A>T (p.Ser3224Cys)
|
rs545062561
|
|
|
NM_182914.3(SYNE2):c.9683C>T (p.Thr3228Ile)
|
|
|
|
NM_182914.3(SYNE2):c.9711G>T (p.Gln3237His)
|
rs1406827932
|
|
|
NM_182914.3(SYNE2):c.9739C>T (p.Arg3247Cys)
|
|
|
|
NM_182914.3(SYNE2):c.9777_9778del (p.Arg3260fs)
|
rs2153580475
|
|
|
NM_182914.3(SYNE2):c.9812G>A (p.Ser3271Asn)
|
rs756481940
|
|
|
NM_182914.3(SYNE2):c.9825C>T (p.Leu3275=)
|
|
|
|
NM_182914.3(SYNE2):c.9893G>A (p.Arg3298Gln)
|
rs770399154
|
|
|
NM_182914.3(SYNE2):c.9925_9926inv (p.His3309Cys)
|
|
|
|
NM_182914.3(SYNE2):c.9929T>C (p.Ile3310Thr)
|
|
|
|
NM_182914.3(SYNE2):c.9952G>A (p.Gly3318Arg)
|
|
|
|
NM_182914.3(SYNE2):c.995T>G (p.Leu332Arg)
|
rs2153454245
|
|
|
NM_182914.3(SYNE2):c.9967C>T (p.Pro3323Ser)
|
|
|
|
NM_182914.3(SYNE2):c.9994A>G (p.Thr3332Ala)
|
rs2153580640
|
|
|
NM_182961.4(SYNE1):c.10020A>G (p.Ile3340Met)
|
rs756088149
|
|
|
NM_182961.4(SYNE1):c.10051A>G (p.Thr3351Ala)
|
rs2097039682
|
|
|
NM_182961.4(SYNE1):c.10051A>T (p.Thr3351Ser)
|
rs2097039682
|
|
|
NM_182961.4(SYNE1):c.10078C>G (p.Gln3360Glu)
|
|
|
|
NM_182961.4(SYNE1):c.10112C>T (p.Ala3371Val)
|
rs748579024
|
|
|
NM_182961.4(SYNE1):c.10132A>C (p.Ile3378Leu)
|
rs758060339
|
|
|
NM_182961.4(SYNE1):c.10133T>C (p.Ile3378Thr)
|
|
|
|
NM_182961.4(SYNE1):c.10135C>T (p.Arg3379Cys)
|
|
|
|
NM_182961.4(SYNE1):c.10181A>T (p.Tyr3394Phe)
|
rs754599705
|
|
|
NM_182961.4(SYNE1):c.10190_10191delinsCA (p.Gly3397Ala)
|
rs2154069302
|
|
|
NM_182961.4(SYNE1):c.10212G>T (p.Trp3404Cys)
|
rs1179568983
|
|
|
NM_182961.4(SYNE1):c.10217A>T (p.Asp3406Val)
|
rs546645393
|
|
|
NM_182961.4(SYNE1):c.10223T>C (p.Met3408Thr)
|
rs1212823311
|
|
|
NM_182961.4(SYNE1):c.10259C>A (p.Ala3420Glu)
|
rs748911036
|
|
|
NM_182961.4(SYNE1):c.10277C>T (p.Thr3426Ile)
|
rs2096943501
|
|
|
NM_182961.4(SYNE1):c.10280C>G (p.Thr3427Arg)
|
|
|
|
NM_182961.4(SYNE1):c.10283T>C (p.Met3428Thr)
|
|
|
|
NM_182961.4(SYNE1):c.10288G>A (p.Gly3430Arg)
|
rs1047722501
|
|
|
NM_182961.4(SYNE1):c.10313A>T (p.Glu3438Val)
|
|
|
|
NM_182961.4(SYNE1):c.10347C>G (p.Ile3449Met)
|
rs201204269
|
|
|
NM_182961.4(SYNE1):c.1034A>C (p.Gln345Pro)
|
rs200003096
|
|
|
NM_182961.4(SYNE1):c.10379A>G (p.Tyr3460Cys)
|
|
|
|
NM_182961.4(SYNE1):c.10430A>G (p.Gln3477Arg)
|
|
|
|
NM_182961.4(SYNE1):c.10450G>A (p.Val3484Ile)
|
|
|
|
NM_182961.4(SYNE1):c.10469T>C (p.Leu3490Pro)
|
|
|
|
NM_182961.4(SYNE1):c.1047+4T>G
|
rs9397106
|
|
|
NM_182961.4(SYNE1):c.1048-4_1048-3del
|
rs755509246
|
|
|
NM_182961.4(SYNE1):c.10539A>C (p.Glu3513Asp)
|
|
|
|
NM_182961.4(SYNE1):c.10543C>T (p.Leu3515Phe)
|
rs1447737732
|
|
|
NM_182961.4(SYNE1):c.10574C>T (p.Ala3525Val)
|
|
|
|
NM_182961.4(SYNE1):c.1058A>C (p.His353Pro)
|
|
|
|
NM_182961.4(SYNE1):c.10597C>A (p.Arg3533Ser)
|
rs776816480
|
|
|
NM_182961.4(SYNE1):c.10633G>A (p.Gly3545Arg)
|
|
|
|
NM_182961.4(SYNE1):c.10649A>G (p.Asn3550Ser)
|
|
|
|
NM_182961.4(SYNE1):c.1066G>A (p.Val356Ile)
|
rs1156294695
|
|
|
NM_182961.4(SYNE1):c.10699G>A (p.Ala3567Thr)
|
|
|
|
NM_182961.4(SYNE1):c.10700C>T (p.Ala3567Val)
|
rs2154051091
|
|
|
NM_182961.4(SYNE1):c.1072T>C (p.Tyr358His)
|
rs779366372
|
|
|
NM_182961.4(SYNE1):c.10735T>C (p.Trp3579Arg)
|
|
|
|
NM_182961.4(SYNE1):c.10749G>C (p.Gln3583His)
|
|
|
|
NM_182961.4(SYNE1):c.1075G>A (p.Glu359Lys)
|
|
|
|
NM_182961.4(SYNE1):c.10766C>G (p.Thr3589Ser)
|
|
|
|
NM_182961.4(SYNE1):c.10786G>T (p.Val3596Leu)
|
rs143034104
|
|
|
NM_182961.4(SYNE1):c.1078A>G (p.Met360Val)
|
rs2098931426
|
|
|
NM_182961.4(SYNE1):c.10791G>A (p.Val3597=)
|
|
|
|
NM_182961.4(SYNE1):c.10807A>G (p.Met3603Val)
|
|
|
|
NM_182961.4(SYNE1):c.10818G>C (p.Lys3606Asn)
|
|
|
|
NM_182961.4(SYNE1):c.10847C>T (p.Thr3616Ile)
|
|
|
|
NM_182961.4(SYNE1):c.10855G>A (p.Glu3619Lys)
|
rs1214109688
|
|
|
NM_182961.4(SYNE1):c.10863_10866del (p.Ser3622fs)
|
|
|
|
NM_182961.4(SYNE1):c.10969G>C (p.Glu3657Gln)
|
|
|
|
NM_182961.4(SYNE1):c.10981A>G (p.Arg3661Gly)
|
rs767172575
|
|
|
NM_182961.4(SYNE1):c.11007C>A (p.Ser3669Arg)
|
|
|
|
NM_182961.4(SYNE1):c.11010C>A (p.His3670Gln)
|
rs143673038
|
|
|
NM_182961.4(SYNE1):c.11011G>A (p.Val3671Met)
|
rs567753957
|
|
|
NM_182961.4(SYNE1):c.11059C>A (p.Gln3687Lys)
|
|
|
|
NM_182961.4(SYNE1):c.11076A>C (p.Gln3692His)
|
|
|
|
NM_182961.4(SYNE1):c.11089A>G (p.Ile3697Val)
|
|
|
|
NM_182961.4(SYNE1):c.11115G>C (p.Gln3705His)
|
rs2154045109
|
|
|
NM_182961.4(SYNE1):c.11208C>A (p.Asp3736Glu)
|
|
|
|
NM_182961.4(SYNE1):c.11253+6C>A
|
rs2096773869
|
|
|
NM_182961.4(SYNE1):c.11284A>C (p.Ser3762Arg)
|
rs953580081
|
|
|
NM_182961.4(SYNE1):c.11344G>A (p.Glu3782Lys)
|
|
|
|
NM_182961.4(SYNE1):c.1135T>C (p.Ser379Pro)
|
|
|
|
NM_182961.4(SYNE1):c.11408C>T (p.Thr3803Ile)
|
rs2096753111
|
|
|
NM_182961.4(SYNE1):c.11414G>A (p.Arg3805Gln)
|
|
|
|
NM_182961.4(SYNE1):c.11420A>G (p.Glu3807Gly)
|
rs2096752876
|
|
|
NM_182961.4(SYNE1):c.11425A>G (p.Met3809Val)
|
|
|
|
NM_182961.4(SYNE1):c.11463C>A (p.Phe3821Leu)
|
rs2154039505
|
|
|
NM_182961.4(SYNE1):c.11464T>A (p.Ser3822Thr)
|
|
|
|
NM_182961.4(SYNE1):c.11475C>T (p.Cys3825=)
|
rs146919170
|
|
|
NM_182961.4(SYNE1):c.11486C>T (p.Thr3829Ile)
|
rs770523249
|
|
|
NM_182961.4(SYNE1):c.11494A>T (p.Ile3832Leu)
|
|
|
|
NM_182961.4(SYNE1):c.11560G>C (p.Ala3854Pro)
|
rs776601282
|
|
|
NM_182961.4(SYNE1):c.11569T>C (p.Ser3857Pro)
|
|
|
|
NM_182961.4(SYNE1):c.11652G>C (p.Leu3884Phe)
|
|
|
|
NM_182961.4(SYNE1):c.11656C>A (p.Leu3886Met)
|
rs755039909
|
|
|
NM_182961.4(SYNE1):c.11657T>C (p.Leu3886Pro)
|
|
|
|
NM_182961.4(SYNE1):c.11662C>A (p.Gln3888Lys)
|
rs1590820792
|
|
|
NM_182961.4(SYNE1):c.11666A>G (p.Asp3889Gly)
|
|
|
|
NM_182961.4(SYNE1):c.11669T>A (p.Val3890Asp)
|
rs750372071
|
|
|
NM_182961.4(SYNE1):c.11690A>G (p.Asp3897Gly)
|
rs935958519
|
|
|
NM_182961.4(SYNE1):c.1171A>G (p.Arg391Gly)
|
|
|
|
NM_182961.4(SYNE1):c.1173A>C (p.Arg391Ser)
|
|
|
|
NM_182961.4(SYNE1):c.1178C>T (p.Thr393Ile)
|
|
|
|
NM_182961.4(SYNE1):c.11902-3C>T
|
|
|
|
NM_182961.4(SYNE1):c.11920G>T (p.Ala3974Ser)
|
rs2154025706
|
|
|
NM_182961.4(SYNE1):c.11935C>A (p.Arg3979Ser)
|
rs755560676
|
|
|
NM_182961.4(SYNE1):c.11936G>T (p.Arg3979Leu)
|
|
|
|
NM_182961.4(SYNE1):c.11999C>T (p.Ala4000Val)
|
|
|
|
NM_182961.4(SYNE1):c.12035G>T (p.Gly4012Val)
|
rs745342797
|
|
|
NM_182961.4(SYNE1):c.12056C>A (p.Ala4019Glu)
|
rs756840607
|
|
|
NM_182961.4(SYNE1):c.12059T>A (p.Ile4020Asn)
|
rs2154025477
|
|
|
NM_182961.4(SYNE1):c.12060C>G (p.Ile4020Met)
|
rs2096650506
|
|
|
NM_182961.4(SYNE1):c.12068C>G (p.Thr4023Arg)
|
|
|
|
NM_182961.4(SYNE1):c.12071C>T (p.Ala4024Val)
|
rs2154025456
|
|
|
NM_182961.4(SYNE1):c.1208T>C (p.Leu403Pro)
|
|
|
|
NM_182961.4(SYNE1):c.12097C>T (p.His4033Tyr)
|
|
|
|
NM_182961.4(SYNE1):c.12128A>T (p.Asp4043Val)
|
rs761744256
|
|
|
NM_182961.4(SYNE1):c.12185G>A (p.Ser4062Asn)
|
|
|
|
NM_182961.4(SYNE1):c.12194C>G (p.Pro4065Arg)
|
|
|
|
NM_182961.4(SYNE1):c.12203G>A (p.Ser4068Asn)
|
rs1366322267
|
|
|
NM_182961.4(SYNE1):c.12215C>T (p.Ala4072Val)
|
|
|
|
NM_182961.4(SYNE1):c.12256G>A (p.Ala4086Thr)
|
|
|
|
NM_182961.4(SYNE1):c.12287T>A (p.Met4096Lys)
|
rs771323185
|
|
|
NM_182961.4(SYNE1):c.12287T>C (p.Met4096Thr)
|
rs771323185
|
|
|
NM_182961.4(SYNE1):c.12291T>G (p.Cys4097Trp)
|
rs1554492224
|
|
|
NM_182961.4(SYNE1):c.12349A>G (p.Thr4117Ala)
|
|
|
|
NM_182961.4(SYNE1):c.12354T>G (p.Ile4118Met)
|
rs144274149
|
|
|
NM_182961.4(SYNE1):c.12371A>C (p.Gln4124Pro)
|
rs911413208
|
|
|
NM_182961.4(SYNE1):c.12380A>G (p.Asn4127Ser)
|
|
|
|
NM_182961.4(SYNE1):c.12400G>A (p.Glu4134Lys)
|
rs898572784
|
|
|
NM_182961.4(SYNE1):c.12446C>A (p.Ala4149Asp)
|
|
|
|
NM_182961.4(SYNE1):c.12457C>A (p.Leu4153Met)
|
rs2096403501
|
|
|
NM_182961.4(SYNE1):c.12470A>G (p.Lys4157Arg)
|
|
|
|
NM_182961.4(SYNE1):c.12492G>T (p.Glu4164Asp)
|
rs763067012
|
|
|
NM_182961.4(SYNE1):c.12496A>C (p.Asn4166His)
|
rs147385939
|
|
|
NM_182961.4(SYNE1):c.12535_12537del (p.Val4179del)
|
rs1356327027
|
|
|
NM_182961.4(SYNE1):c.12552C>G (p.Ser4184Arg)
|
|
|
|
NM_182961.4(SYNE1):c.12574A>G (p.Ile4192Val)
|
|
|
|
NM_182961.4(SYNE1):c.12585G>T (p.Lys4195Asn)
|
rs149536991
|
|
|
NM_182961.4(SYNE1):c.12598A>G (p.Thr4200Ala)
|
|
|
|
NM_182961.4(SYNE1):c.1259G>A (p.Arg420Lys)
|
|
|
|
NM_182961.4(SYNE1):c.12638A>G (p.His4213Arg)
|
rs1032510868
|
|
|
NM_182961.4(SYNE1):c.12647A>G (p.Asp4216Gly)
|
rs1363382711
|
|
|
NM_182961.4(SYNE1):c.12666C>G (p.Cys4222Trp)
|
rs866991892
|
|
|
NM_182961.4(SYNE1):c.12668G>A (p.Arg4223His)
|
|
|
|
NM_182961.4(SYNE1):c.12668G>T (p.Arg4223Leu)
|
rs140492158
|
|
|
NM_182961.4(SYNE1):c.12676A>C (p.Asn4226His)
|
rs2096319568
|
|
|
NM_182961.4(SYNE1):c.12679A>C (p.Asn4227His)
|
|
|
|
NM_182961.4(SYNE1):c.12719G>A (p.Arg4240Lys)
|
|
|
|
NM_182961.4(SYNE1):c.1271C>T (p.Ala424Val)
|
|
|
|
NM_182961.4(SYNE1):c.12734G>A (p.Cys4245Tyr)
|
rs1590300572
|
|
|
NM_182961.4(SYNE1):c.12743T>C (p.Val4248Ala)
|
|
|
|
NM_182961.4(SYNE1):c.12795A>G (p.Arg4265=)
|
rs1554474578
|
|
|
NM_182961.4(SYNE1):c.12809G>A (p.Ser4270Asn)
|
|
|
|
NM_182961.4(SYNE1):c.1284A>C (p.Glu428Asp)
|
|
|
|
NM_182961.4(SYNE1):c.12887A>T (p.Lys4296Ile)
|
|
|
|
NM_182961.4(SYNE1):c.129+3A>G
|
|
|
|
NM_182961.4(SYNE1):c.12907A>G (p.Ile4303Val)
|
rs758301679
|
|
|
NM_182961.4(SYNE1):c.12914A>T (p.His4305Leu)
|
|
|
|
NM_182961.4(SYNE1):c.1291G>A (p.Val431Ile)
|
|
|
|
NM_182961.4(SYNE1):c.12923T>C (p.Leu4308Ser)
|
|
|
|
NM_182961.4(SYNE1):c.12941T>C (p.Val4314Ala)
|
rs2153974951
|
|
|
NM_182961.4(SYNE1):c.12956G>A (p.Ser4319Asn)
|
rs2153974889
|
|
|
NM_182961.4(SYNE1):c.12971G>A (p.Arg4324His)
|
|
|
|
NM_182961.4(SYNE1):c.12997A>G (p.Lys4333Glu)
|
|
|
|
NM_182961.4(SYNE1):c.13011A>T (p.Gln4337His)
|
|
|
|
NM_182961.4(SYNE1):c.13064A>G (p.Glu4355Gly)
|
rs2153974617
|
|
|
NM_182961.4(SYNE1):c.1309G>A (p.Glu437Lys)
|
rs2154294590
|
|
|
NM_182961.4(SYNE1):c.13102G>T (p.Ala4368Ser)
|
rs201900423
|
|
|
NM_182961.4(SYNE1):c.13120A>G (p.Ser4374Gly)
|
|
|
|
NM_182961.4(SYNE1):c.13136T>C (p.Met4379Thr)
|
|
|
|
NM_182961.4(SYNE1):c.13153A>G (p.Met4385Val)
|
|
|
|
NM_182961.4(SYNE1):c.13187C>T (p.Ala4396Val)
|
|
|
|
NM_182961.4(SYNE1):c.13195A>T (p.Met4399Leu)
|
|
|
|
NM_182961.4(SYNE1):c.13197G>T (p.Met4399Ile)
|
|
|
|
NM_182961.4(SYNE1):c.13240G>T (p.Asp4414Tyr)
|
|
|
|
NM_182961.4(SYNE1):c.13259G>A (p.Arg4420Gln)
|
rs766831979
|
|
|
NM_182961.4(SYNE1):c.13279C>G (p.Leu4427Val)
|
|
|
|
NM_182961.4(SYNE1):c.13289C>T (p.Ala4430Val)
|
|
|
|
NM_182961.4(SYNE1):c.13307G>A (p.Cys4436Tyr)
|
rs1405025412
|
|
|
NM_182961.4(SYNE1):c.13372T>A (p.Phe4458Ile)
|
rs2153973664
|
|
|
NM_182961.4(SYNE1):c.13381G>A (p.Ala4461Thr)
|
|
|
|
NM_182961.4(SYNE1):c.13418A>G (p.Glu4473Gly)
|
rs1202464044
|
|
|
NM_182961.4(SYNE1):c.13436G>T (p.Arg4479Leu)
|
rs768085752
|
|
|
NM_182961.4(SYNE1):c.13475A>T (p.Gln4492Leu)
|
|
|
|
NM_182961.4(SYNE1):c.13486T>G (p.Cys4496Gly)
|
rs2153973254
|
|
|
NM_182961.4(SYNE1):c.13511A>C (p.Lys4504Thr)
|
|
|
|
NM_182961.4(SYNE1):c.13513A>T (p.Thr4505Ser)
|
|
|
|
NM_182961.4(SYNE1):c.13532C>T (p.Thr4511Ile)
|
rs1554471456
|
|
|
NM_182961.4(SYNE1):c.13535G>C (p.Gly4512Ala)
|
rs933108692
|
|
|
NM_182961.4(SYNE1):c.13537C>G (p.Leu4513Val)
|
|
|
|
NM_182961.4(SYNE1):c.13543G>C (p.Ala4515Pro)
|
|
|
|
NM_182961.4(SYNE1):c.13562T>C (p.Met4521Thr)
|
|
|
|
NM_182961.4(SYNE1):c.13587G>C (p.Lys4529Asn)
|
rs1265607198
|
|
|
NM_182961.4(SYNE1):c.13598T>C (p.Leu4533Pro)
|
rs2096237841
|
|
|
NM_182961.4(SYNE1):c.1360C>G (p.Gln454Glu)
|
rs542819749
|
|
|
NM_182961.4(SYNE1):c.13620G>C (p.Gln4540His)
|
rs755192690
|
|
|
NM_182961.4(SYNE1):c.13628A>T (p.Tyr4543Phe)
|
rs138770612
|
|
|
NM_182961.4(SYNE1):c.13658G>A (p.Arg4553Gln)
|
|
|
|
NM_182961.4(SYNE1):c.13749_13751delinsGTG (p.Ile4583_Val4584delinsMetCys)
|
rs1590225545
|
|
|
NM_182961.4(SYNE1):c.13751T>A (p.Val4584Asp)
|
rs968829958
|
|
|
NM_182961.4(SYNE1):c.13796A>G (p.His4599Arg)
|
|
|
|
NM_182961.4(SYNE1):c.13825C>A (p.Leu4609Ile)
|
rs2153972296
|
|
|
NM_182961.4(SYNE1):c.13832A>T (p.Gln4611Leu)
|
rs762392590
|
|
|
NM_182961.4(SYNE1):c.13851TCT[1] (p.Leu4620del)
|
rs1085307610
|
|
|
NM_182961.4(SYNE1):c.13877G>C (p.Gly4626Ala)
|
rs2096230090
|
|
|
NM_182961.4(SYNE1):c.13934_13935insTTT (p.Leu4645dup)
|
rs886043161
|
|
|
NM_182961.4(SYNE1):c.13952A>G (p.Gln4651Arg)
|
rs374697325
|
|
|
NM_182961.4(SYNE1):c.1410G>T (p.Arg470Ser)
|
|
|
|
NM_182961.4(SYNE1):c.14116G>C (p.Val4706Leu)
|
rs374596074
|
|
|
NM_182961.4(SYNE1):c.14147G>A (p.Cys4716Tyr)
|
rs1346910826
|
|
|
NM_182961.4(SYNE1):c.14180G>A (p.Gly4727Glu)
|
|
|
|
NM_182961.4(SYNE1):c.14198T>A (p.Leu4733Gln)
|
|
|
|
NM_182961.4(SYNE1):c.14234A>G (p.Gln4745Arg)
|
|
|
|
NM_182961.4(SYNE1):c.1424T>C (p.Ile475Thr)
|
|
|
|
NM_182961.4(SYNE1):c.14253G>C (p.Lys4751Asn)
|
rs766721753
|
|
|
NM_182961.4(SYNE1):c.14279A>T (p.His4760Leu)
|
|
|
|
NM_182961.4(SYNE1):c.14318T>C (p.Leu4773Ser)
|
|
|
|
NM_182961.4(SYNE1):c.14319A>T (p.Leu4773Phe)
|
|
|
|
NM_182961.4(SYNE1):c.1432C>T (p.Pro478Ser)
|
rs756636517
|
|
|
NM_182961.4(SYNE1):c.14335G>A (p.Ala4779Thr)
|
rs368490158
|
|
|
NM_182961.4(SYNE1):c.14353A>G (p.Lys4785Glu)
|
rs2153970528
|
|
|
NM_182961.4(SYNE1):c.14359T>C (p.Cys4787Arg)
|
|
|
|
NM_182961.4(SYNE1):c.14378A>G (p.Gln4793Arg)
|
|
|
|
NM_182961.4(SYNE1):c.14398G>C (p.Glu4800Gln)
|
rs2096215013
|
|
|
NM_182961.4(SYNE1):c.14423C>T (p.Thr4808Met)
|
rs373040273
|
|
|
NM_182961.4(SYNE1):c.14441A>G (p.Lys4814Arg)
|
|
|
|
NM_182961.4(SYNE1):c.14465C>A (p.Ala4822Glu)
|
|
|
|
NM_182961.4(SYNE1):c.14522A>G (p.Asp4841Gly)
|
rs2096212044
|
|
|
NM_182961.4(SYNE1):c.14548G>A (p.Ala4850Thr)
|
|
|
|
NM_182961.4(SYNE1):c.1455G>A (p.Met485Ile)
|
rs2154279827
|
|
|
NM_182961.4(SYNE1):c.14578T>A (p.Ser4860Thr)
|
|
|
|
NM_182961.4(SYNE1):c.1459G>A (p.Glu487Lys)
|
|
|
|
NM_182961.4(SYNE1):c.14609C>T (p.Ser4870Phe)
|
|
|
|
NM_182961.4(SYNE1):c.14611G>A (p.Ala4871Thr)
|
rs2096210316
|
|
|
NM_182961.4(SYNE1):c.14617G>A (p.Gly4873Ser)
|
rs2153969748
|
|
|
NM_182961.4(SYNE1):c.14626G>A (p.Val4876Met)
|
rs1297328408
|
|
|
NM_182961.4(SYNE1):c.14636G>A (p.Cys4879Tyr)
|
|
|
|
NM_182961.4(SYNE1):c.14639A>G (p.Glu4880Gly)
|
|
|
|
NM_182961.4(SYNE1):c.14649G>A (p.Met4883Ile)
|
rs922999800
|
|
|
NM_182961.4(SYNE1):c.14681G>A (p.Ser4894Asn)
|
rs2096207947
|
|
|
NM_182961.4(SYNE1):c.14695T>C (p.Trp4899Arg)
|
rs753891807
|
|
|
NM_182961.4(SYNE1):c.14738T>C (p.Leu4913Pro)
|
rs2096206184
|
|
|
NM_182961.4(SYNE1):c.14741A>G (p.Asp4914Gly)
|
|
|
|
NM_182961.4(SYNE1):c.14750T>A (p.Leu4917Gln)
|
rs2153969244
|
|
|
NM_182961.4(SYNE1):c.14756A>G (p.Asp4919Gly)
|
rs2096205614
|
|
|
NM_182961.4(SYNE1):c.14782C>G (p.Gln4928Glu)
|
|
|
|
NM_182961.4(SYNE1):c.14809A>C (p.Ser4937Arg)
|
rs780093837
|
|
|
NM_182961.4(SYNE1):c.1481C>T (p.Ser494Phe)
|
|
|
|
NM_182961.4(SYNE1):c.14854T>C (p.Phe4952Leu)
|
rs1044018341
|
|
|
NM_182961.4(SYNE1):c.148G>A (p.Val50Met)
|
rs1023433513
|
|
|
NM_182961.4(SYNE1):c.14917C>G (p.Leu4973Val)
|
rs35085679
|
|
|
NM_182961.4(SYNE1):c.14956-19T>A
|
|
|
|
NM_182961.4(SYNE1):c.14978G>A (p.Ser4993Asn)
|
|
|
|
NM_182961.4(SYNE1):c.15065G>T (p.Gly5022Val)
|
|
|
|
NM_182961.4(SYNE1):c.15073G>A (p.Val5025Met)
|
|
|
|
NM_182961.4(SYNE1):c.15080G>A (p.Ser5027Asn)
|
|
|
|
NM_182961.4(SYNE1):c.15089A>G (p.Glu5030Gly)
|
rs1563087715
|
|
|
NM_182961.4(SYNE1):c.15095T>C (p.Leu5032Pro)
|
rs2153955400
|
|
|
NM_182961.4(SYNE1):c.15122C>T (p.Thr5041Ile)
|
|
|
|
NM_182961.4(SYNE1):c.15124G>A (p.Glu5042Lys)
|
rs533927341
|
|
|
NM_182961.4(SYNE1):c.15140G>T (p.Ser5047Ile)
|
|
|
|
NM_182961.4(SYNE1):c.15151_15152delinsAT (p.Glu5051Met)
|
rs2096068834
|
|
|
NM_182961.4(SYNE1):c.15162C>A (p.Ser5054Arg)
|
|
|
|
NM_182961.4(SYNE1):c.15181C>G (p.Pro5061Ala)
|
rs886042595
|
|
|
NM_182961.4(SYNE1):c.15188T>C (p.Ile5063Thr)
|
rs1486769103
|
|
|
NM_182961.4(SYNE1):c.15220A>G (p.Lys5074Glu)
|
|
|
|
NM_182961.4(SYNE1):c.15227C>T (p.Ala5076Val)
|
rs756766678
|
|
|
NM_182961.4(SYNE1):c.1528T>A (p.Tyr510Asn)
|
rs2154279114
|
|
|
NM_182961.4(SYNE1):c.152A>G (p.Asp51Gly)
|
|
|
|
NM_182961.4(SYNE1):c.1532G>A (p.Arg511His)
|
rs1432273399
|
|
|
NM_182961.4(SYNE1):c.15335A>C (p.Glu5112Ala)
|
rs2153953000
|
|
|
NM_182961.4(SYNE1):c.15341T>C (p.Ile5114Thr)
|
|
|
|
NM_182961.4(SYNE1):c.15364A>G (p.Lys5122Glu)
|
rs1309063617
|
|
|
NM_182961.4(SYNE1):c.15368A>G (p.Lys5123Arg)
|
rs2153952840
|
|
|
NM_182961.4(SYNE1):c.15423A>C (p.Lys5141Asn)
|
|
|
|
NM_182961.4(SYNE1):c.15428C>T (p.Ser5143Leu)
|
|
|
|
NM_182961.4(SYNE1):c.15434A>G (p.His5145Arg)
|
rs2153952625
|
|
|
NM_182961.4(SYNE1):c.1546C>A (p.Leu516Met)
|
|
|
|
NM_182961.4(SYNE1):c.15470A>T (p.Glu5157Val)
|
|
|
|
NM_182961.4(SYNE1):c.15497C>T (p.Ala5166Val)
|
rs2153949505
|
|
|
NM_182961.4(SYNE1):c.154G>A (p.Asp52Asn)
|
rs560155321
|
|
|
NM_182961.4(SYNE1):c.15500C>T (p.Ser5167Leu)
|
|
|
|
NM_182961.4(SYNE1):c.15533A>T (p.Lys5178Ile)
|
rs2096026505
|
|
|
NM_182961.4(SYNE1):c.15535G>A (p.Ala5179Thr)
|
|
|
|
NM_182961.4(SYNE1):c.15554T>C (p.Met5185Thr)
|
|
|
|
NM_182961.4(SYNE1):c.15580C>G (p.Arg5194Gly)
|
|
|
|
NM_182961.4(SYNE1):c.15581G>A (p.Arg5194His)
|
rs751121212
|
|
|
NM_182961.4(SYNE1):c.15584T>G (p.Leu5195Arg)
|
rs758161214
|
|
|
NM_182961.4(SYNE1):c.15587G>C (p.Arg5196Pro)
|
rs752229373
|
|
|
NM_182961.4(SYNE1):c.15620A>G (p.Glu5207Gly)
|
|
|
|
NM_182961.4(SYNE1):c.15641C>T (p.Thr5214Met)
|
|
|
|
NM_182961.4(SYNE1):c.15678G>A (p.Met5226Ile)
|
rs2095955611
|
|
|
NM_182961.4(SYNE1):c.15704C>T (p.Pro5235Leu)
|
rs2095954870
|
|
|
NM_182961.4(SYNE1):c.15763G>A (p.Asp5255Asn)
|
|
|
|
NM_182961.4(SYNE1):c.15767C>G (p.Thr5256Arg)
|
rs1379759625
|
|
|
NM_182961.4(SYNE1):c.15767C>T (p.Thr5256Met)
|
|
|
|
NM_182961.4(SYNE1):c.15772G>A (p.Val5258Ile)
|
|
|
|
NM_182961.4(SYNE1):c.15791A>G (p.Gln5264Arg)
|
rs2153938686
|
|
|
NM_182961.4(SYNE1):c.15830G>A (p.Ser5277Asn)
|
rs2095950565
|
|
|
NM_182961.4(SYNE1):c.15841G>A (p.Asp5281Asn)
|
rs1322082202
|
|
|
NM_182961.4(SYNE1):c.15850G>A (p.Ala5284Thr)
|
|
|
|
NM_182961.4(SYNE1):c.15860C>T (p.Pro5287Leu)
|
rs758942889
|
|
|
NM_182961.4(SYNE1):c.15880A>G (p.Met5294Val)
|
rs768403781
|
|
|
NM_182961.4(SYNE1):c.15881T>C (p.Met5294Thr)
|
rs748905719
|
|
|
NM_182961.4(SYNE1):c.15898A>T (p.Met5300Leu)
|
rs1221150819
|
|
|
NM_182961.4(SYNE1):c.15907C>A (p.Arg5303=)
|
rs149215868
|
|
|
NM_182961.4(SYNE1):c.15913C>A (p.Leu5305Met)
|
rs2153937753
|
|
|
NM_182961.4(SYNE1):c.15917+3A>T
|
rs2153937725
|
|
|
NM_182961.4(SYNE1):c.15919A>T (p.Met5307Leu)
|
rs1554441847
|
|
|
NM_182961.4(SYNE1):c.15951G>C (p.Leu5317Phe)
|
|
|
|
NM_182961.4(SYNE1):c.15978A>C (p.Glu5326Asp)
|
rs2095874810
|
|
|
NM_182961.4(SYNE1):c.16021G>A (p.Glu5341Lys)
|
rs765080592
|
|
|
NM_182961.4(SYNE1):c.16039G>T (p.Gly5347Trp)
|
|
|
|
NM_182961.4(SYNE1):c.1603T>A (p.Ser535Thr)
|
|
|
|
NM_182961.4(SYNE1):c.16048A>G (p.Thr5350Ala)
|
rs2095873538
|
|
|
NM_182961.4(SYNE1):c.16050AATAGA[1] (p.Glu5352_Ile5353del)
|
rs1487695655
|
|
|
NM_182961.4(SYNE1):c.16067A>T (p.Gln5356Leu)
|
|
|
|
NM_182961.4(SYNE1):c.16102A>G (p.Thr5368Ala)
|
rs1342214470
|
|
|
NM_182961.4(SYNE1):c.16158A>T (p.Leu5386Phe)
|
rs942561370
|
|
|
NM_182961.4(SYNE1):c.16204G>A (p.Glu5402Lys)
|
rs1320150804
|
|
|
NM_182961.4(SYNE1):c.16205A>T (p.Glu5402Val)
|
rs2153923807
|
|
|
NM_182961.4(SYNE1):c.16228C>G (p.Arg5410Gly)
|
|
|
|
NM_182961.4(SYNE1):c.16236+4A>C
|
|
|
|
NM_182961.4(SYNE1):c.16248A>C (p.Lys5416Asn)
|
rs2095804308
|
|
|
NM_182961.4(SYNE1):c.1632+3G>A
|
|
|
|
NM_182961.4(SYNE1):c.16349C>A (p.Ala5450Glu)
|
rs181649865
|
|
|
NM_182961.4(SYNE1):c.16349C>T (p.Ala5450Val)
|
rs181649865
|
|
|
NM_182961.4(SYNE1):c.16355C>T (p.Thr5452Ile)
|
|
|
|
NM_182961.4(SYNE1):c.16388A>T (p.Lys5463Met)
|
|
|
|
NM_182961.4(SYNE1):c.16415G>A (p.Cys5472Tyr)
|
|
|
|
NM_182961.4(SYNE1):c.16442C>T (p.Ala5481Val)
|
|
|
|
NM_182961.4(SYNE1):c.16472G>T (p.Gly5491Val)
|
rs530429418
|
|
|
NM_182961.4(SYNE1):c.16495A>C (p.Lys5499Gln)
|
rs2153899250
|
|
|
NM_182961.4(SYNE1):c.16501A>G (p.Ile5501Val)
|
rs2153899235
|
|
|
NM_182961.4(SYNE1):c.16534A>G (p.Ile5512Val)
|
rs2095781749
|
|
|
NM_182961.4(SYNE1):c.16575A>G (p.Ala5525=)
|
|
|
|
NM_182961.4(SYNE1):c.16619T>C (p.Leu5540Ser)
|
rs1563012099
|
|
|
NM_182961.4(SYNE1):c.16641A>T (p.Lys5547Asn)
|
rs2153893118
|
|
|
NM_182961.4(SYNE1):c.16648G>C (p.Ala5550Pro)
|
|
|
|
NM_182961.4(SYNE1):c.16666T>A (p.Trp5556Arg)
|
rs2095739223
|
|
|
NM_182961.4(SYNE1):c.16673C>T (p.Ser5558Phe)
|
rs1379717748
|
|
|
NM_182961.4(SYNE1):c.16688G>A (p.Arg5563Gln)
|
|
|
|
NM_182961.4(SYNE1):c.16763A>G (p.Glu5588Gly)
|
|
|
|
NM_182961.4(SYNE1):c.167A>G (p.Asp56Gly)
|
|
|
|
NM_182961.4(SYNE1):c.16811A>C (p.Gln5604Pro)
|
rs886043922
|
|
|
NM_182961.4(SYNE1):c.16813C>A (p.Gln5605Lys)
|
rs1045463275
|
|
|
NM_182961.4(SYNE1):c.16834G>A (p.Glu5612Lys)
|
|
|
|
NM_182961.4(SYNE1):c.16859T>G (p.Ile5620Ser)
|
rs765080468
|
|
|
NM_182961.4(SYNE1):c.16897-6C>G
|
rs372179792
|
|
|
NM_182961.4(SYNE1):c.16909T>A (p.Phe5637Ile)
|
|
|
|
NM_182961.4(SYNE1):c.16945G>A (p.Glu5649Lys)
|
rs2153836745
|
|
|
NM_182961.4(SYNE1):c.16958C>A (p.Ala5653Glu)
|
rs776905124
|
|
|
NM_182961.4(SYNE1):c.16978G>A (p.Val5660Ile)
|
|
|
|
NM_182961.4(SYNE1):c.16984C>T (p.Arg5662Cys)
|
rs145899734
|
|
|
NM_182961.4(SYNE1):c.17015G>A (p.Arg5672Gln)
|
rs886043150
|
|
|
NM_182961.4(SYNE1):c.17037G>A (p.Met5679Ile)
|
rs2095499163
|
|
|
NM_182961.4(SYNE1):c.17051C>T (p.Pro5684Leu)
|
|
|
|
NM_182961.4(SYNE1):c.17053A>G (p.Lys5685Glu)
|
|
|
|
NM_182961.4(SYNE1):c.17063C>A (p.Ala5688Glu)
|
|
|
|
NM_182961.4(SYNE1):c.17065G>A (p.Val5689Met)
|
rs1479722158
|
|
|
NM_182961.4(SYNE1):c.1707G>A (p.Met569Ile)
|
|
|
|
NM_182961.4(SYNE1):c.17134G>T (p.Ala5712Ser)
|
rs2153836097
|
|
|
NM_182961.4(SYNE1):c.17150A>G (p.Glu5717Gly)
|
rs780396166
|
|
|
NM_182961.4(SYNE1):c.1715A>G (p.Lys572Arg)
|
rs1192063694
|
|
|
NM_182961.4(SYNE1):c.17161C>T (p.Arg5721Trp)
|
rs138941941
|
|
|
NM_182961.4(SYNE1):c.17176G>A (p.Ala5726Thr)
|
rs775685010
|
|
|
NM_182961.4(SYNE1):c.17176G>T (p.Ala5726Ser)
|
|
|
|
NM_182961.4(SYNE1):c.17202G>A (p.Gln5734=)
|
|
|
|
NM_182961.4(SYNE1):c.17308A>G (p.Asn5770Asp)
|
|
|
|
NM_182961.4(SYNE1):c.17314C>A (p.Gln5772Lys)
|
rs2095448965
|
|
|
NM_182961.4(SYNE1):c.17326G>A (p.Ala5776Thr)
|
rs774018511
|
|
|
NM_182961.4(SYNE1):c.17346+17C>T
|
|
|
|
NM_182961.4(SYNE1):c.17347-13A>G
|
|
|
|
NM_182961.4(SYNE1):c.17368G>A (p.Gly5790Ser)
|
rs764611066
|
|
|
NM_182961.4(SYNE1):c.17369G>A (p.Gly5790Asp)
|
rs2153813360
|
|
|
NM_182961.4(SYNE1):c.17426C>G (p.Ala5809Gly)
|
rs2095195177
|
|
|
NM_182961.4(SYNE1):c.17450C>T (p.Thr5817Met)
|
|
|
|
NM_182961.4(SYNE1):c.17458G>A (p.Glu5820Lys)
|
rs918895767
|
|
|
NM_182961.4(SYNE1):c.17458G>C (p.Glu5820Gln)
|
rs918895767
|
|
|
NM_182961.4(SYNE1):c.17459A>G (p.Glu5820Gly)
|
rs886042413
|
|
|
NM_182961.4(SYNE1):c.17471T>A (p.Leu5824Gln)
|
|
|
|
NM_182961.4(SYNE1):c.17488G>C (p.Asp5830His)
|
rs2095191599
|
|
|
NM_182961.4(SYNE1):c.17501A>T (p.Glu5834Val)
|
rs2153813002
|
|
|
NM_182961.4(SYNE1):c.17542-5G>A
|
rs776747142
|
|
|
NM_182961.4(SYNE1):c.17582C>A (p.Thr5861Asn)
|
rs1450245566
|
|
|
NM_182961.4(SYNE1):c.17597A>C (p.Glu5866Ala)
|
|
|
|
NM_182961.4(SYNE1):c.17605A>G (p.Thr5869Ala)
|
rs2153809663
|
|
|
NM_182961.4(SYNE1):c.17639G>T (p.Arg5880Leu)
|
rs767844376
|
|
|
NM_182961.4(SYNE1):c.17682+4C>T
|
|
|
|
NM_182961.4(SYNE1):c.17698C>G (p.Gln5900Glu)
|
|
|
|
NM_182961.4(SYNE1):c.1774G>A (p.Ala592Thr)
|
rs747150703
|
|
|
NM_182961.4(SYNE1):c.17758G>T (p.Ala5920Ser)
|
rs765300968
|
|
|
NM_182961.4(SYNE1):c.17850+4A>G
|
rs200922100
|
|
|
NM_182961.4(SYNE1):c.1786A>C (p.Asn596His)
|
|
|
|
NM_182961.4(SYNE1):c.17890C>T (p.Arg5964Cys)
|
|
|
|
NM_182961.4(SYNE1):c.17956C>A (p.Leu5986Ile)
|
|
|
|
NM_182961.4(SYNE1):c.17959A>G (p.Ser5987Gly)
|
|
|
|
NM_182961.4(SYNE1):c.17967C>A (p.Ser5989Arg)
|
rs2153782971
|
|
|
NM_182961.4(SYNE1):c.17990A>G (p.Glu5997Gly)
|
rs1554363340
|
|
|
NM_182961.4(SYNE1):c.18004G>A (p.Glu6002Lys)
|
rs1589456322
|
|
|
NM_182961.4(SYNE1):c.18007C>T (p.His6003Tyr)
|
|
|
|
NM_182961.4(SYNE1):c.18013-3C>T
|
rs2153732604
|
|
|
NM_182961.4(SYNE1):c.18052A>G (p.Asn6018Asp)
|
|
|
|
NM_182961.4(SYNE1):c.18073G>T (p.Ala6025Ser)
|
|
|
|
NM_182961.4(SYNE1):c.18080A>G (p.Glu6027Gly)
|
rs780920250
|
|
|
NM_182961.4(SYNE1):c.18106G>C (p.Asp6036His)
|
rs147615757
|
|
|
NM_182961.4(SYNE1):c.18161T>C (p.Met6054Thr)
|
rs2153731962
|
|
|
NM_182961.4(SYNE1):c.18207+13T>G
|
|
|
|
NM_182961.4(SYNE1):c.18208-4A>G
|
rs1246664941
|
|
|
NM_182961.4(SYNE1):c.18208G>A (p.Glu6070Lys)
|
rs886043015
|
|
|
NM_182961.4(SYNE1):c.18242A>G (p.Gln6081Arg)
|
|
|
|
NM_182961.4(SYNE1):c.1825G>A (p.Glu609Lys)
|
rs2154269816
|
|
|
NM_182961.4(SYNE1):c.18308A>G (p.Lys6103Arg)
|
|
|
|
NM_182961.4(SYNE1):c.18361_18362delinsAT (p.Ala6121Ile)
|
rs2153724594
|
|
|
NM_182961.4(SYNE1):c.18381+3A>C
|
rs2153724535
|
|
|
NM_182961.4(SYNE1):c.18389T>G (p.Leu6130Arg)
|
|
|
|
NM_182961.4(SYNE1):c.18487G>A (p.Glu6163Lys)
|
|
|
|
NM_182961.4(SYNE1):c.18504G>T (p.Lys6168Asn)
|
|
|
|
NM_182961.4(SYNE1):c.18520G>A (p.Gly6174Arg)
|
|
|
|
NM_182961.4(SYNE1):c.18565A>G (p.Asn6189Asp)
|
|
|
|
NM_182961.4(SYNE1):c.18570G>A (p.Met6190Ile)
|
rs886044368
|
|
|
NM_182961.4(SYNE1):c.18592GAG[1] (p.Glu6199del)
|
rs771543751
|
|
|
NM_182961.4(SYNE1):c.18602A>G (p.Asp6201Gly)
|
rs375829264
|
|
|
NM_182961.4(SYNE1):c.18602A>T (p.Asp6201Val)
|
rs375829264
|
|
|
NM_182961.4(SYNE1):c.18605T>A (p.Val6202Asp)
|
|
|
|
NM_182961.4(SYNE1):c.18658C>A (p.Arg6220Ser)
|
rs201685248
|
|
|
NM_182961.4(SYNE1):c.18659G>T (p.Arg6220Leu)
|
rs377307244
|
|
|
NM_182961.4(SYNE1):c.1867G>A (p.Ala623Thr)
|
|
|
|
NM_182961.4(SYNE1):c.18680G>A (p.Arg6227Gln)
|
|
|
|
NM_182961.4(SYNE1):c.18680G>T (p.Arg6227Leu)
|
rs778929049
|
|
|
NM_182961.4(SYNE1):c.18683A>G (p.Gln6228Arg)
|
|
|
|
NM_182961.4(SYNE1):c.18705+6G>A
|
rs2153679070
|
|
|
NM_182961.4(SYNE1):c.1871G>A (p.Ser624Asn)
|
|
|
|
NM_182961.4(SYNE1):c.18737G>A (p.Ser6246Asn)
|
rs2092878526
|
|
|
NM_182961.4(SYNE1):c.18823C>T (p.Pro6275Ser)
|
|
|
|
NM_182961.4(SYNE1):c.18824C>T (p.Pro6275Leu)
|
rs2092093757
|
|
|
NM_182961.4(SYNE1):c.18840G>A (p.Gln6280=)
|
|
|
|
NM_182961.4(SYNE1):c.18876A>C (p.Glu6292Asp)
|
rs778537486
|
|
|
NM_182961.4(SYNE1):c.18885G>A (p.Met6295Ile)
|
|
|
|
NM_182961.4(SYNE1):c.1891G>T (p.Asp631Tyr)
|
rs771327791
|
|
|
NM_182961.4(SYNE1):c.18964G>C (p.Glu6322Gln)
|
rs376472604
|
|
|
NM_182961.4(SYNE1):c.18972G>C (p.Val6324=)
|
rs1316935433
|
|
|
NM_182961.4(SYNE1):c.19001C>T (p.Ser6334Phe)
|
|
|
|
NM_182961.4(SYNE1):c.19010C>G (p.Pro6337Arg)
|
rs2090949177
|
|
|
NM_182961.4(SYNE1):c.19051G>A (p.Val6351Ile)
|
rs2090941359
|
|
|
NM_182961.4(SYNE1):c.19084T>A (p.Phe6362Ile)
|
rs2090937224
|
|
|
NM_182961.4(SYNE1):c.19093G>T (p.Val6365Phe)
|
rs2153628762
|
|
|
NM_182961.4(SYNE1):c.19114G>A (p.Ala6372Thr)
|
rs769911507
|
|
|
NM_182961.4(SYNE1):c.19114G>T (p.Ala6372Ser)
|
|
|
|
NM_182961.4(SYNE1):c.19117A>G (p.Lys6373Glu)
|
rs1554285472
|
|
|
NM_182961.4(SYNE1):c.19122G>T (p.Arg6374Ser)
|
|
|
|
NM_182961.4(SYNE1):c.19130T>C (p.Ile6377Thr)
|
rs1588858602
|
|
|
NM_182961.4(SYNE1):c.19132C>G (p.His6378Asp)
|
rs781479222
|
|
|
NM_182961.4(SYNE1):c.1913A>G (p.Gln638Arg)
|
rs1554756030
|
|
|
NM_182961.4(SYNE1):c.19141C>A (p.Gln6381Lys)
|
|
|
|
NM_182961.4(SYNE1):c.19163C>T (p.Ser6388Leu)
|
|
|
|
NM_182961.4(SYNE1):c.19166C>G (p.Ala6389Gly)
|
|
|
|
NM_182961.4(SYNE1):c.19182G>A (p.Leu6394=)
|
rs2090636581
|
|
|
NM_182961.4(SYNE1):c.19193A>C (p.Glu6398Ala)
|
|
|
|
NM_182961.4(SYNE1):c.19203A>T (p.Leu6401Phe)
|
rs966960053
|
|
|
NM_182961.4(SYNE1):c.19214C>T (p.Thr6405Ile)
|
rs2153623229
|
|
|
NM_182961.4(SYNE1):c.19260+3A>G
|
|
|
|
NM_182961.4(SYNE1):c.19289C>G (p.Ser6430Cys)
|
|
|
|
NM_182961.4(SYNE1):c.19300G>C (p.Asp6434His)
|
|
|
|
NM_182961.4(SYNE1):c.19305G>C (p.Lys6435Asn)
|
|
|
|
NM_182961.4(SYNE1):c.19306A>T (p.Asn6436Tyr)
|
rs996252466
|
|
|
NM_182961.4(SYNE1):c.19311A>T (p.Lys6437Asn)
|
rs2090468441
|
|
|
NM_182961.4(SYNE1):c.19316T>C (p.Leu6439Ser)
|
|
|
|
NM_182961.4(SYNE1):c.19345G>T (p.Asp6449Tyr)
|
rs1315831856
|
|
|
NM_182961.4(SYNE1):c.19373T>C (p.Leu6458Ser)
|
rs2153620062
|
|
|
NM_182961.4(SYNE1):c.19433A>G (p.Gln6478Arg)
|
rs2153619732
|
|
|
NM_182961.4(SYNE1):c.1945A>G (p.Asn649Asp)
|
|
|
|
NM_182961.4(SYNE1):c.1948T>G (p.Leu650Val)
|
rs2154267666
|
|
|
NM_182961.4(SYNE1):c.19496C>T (p.Ser6499Leu)
|
rs779049973
|
|
|
NM_182961.4(SYNE1):c.194C>T (p.Ala65Val)
|
|
|
|
NM_182961.4(SYNE1):c.19577T>C (p.Ile6526Thr)
|
rs2086639076
|
|
|
NM_182961.4(SYNE1):c.19580A>T (p.Gln6527Leu)
|
|
|
|
NM_182961.4(SYNE1):c.19588G>A (p.Glu6530Lys)
|
rs2086635846
|
|
|
NM_182961.4(SYNE1):c.19624G>A (p.Glu6542Lys)
|
rs1290381941
|
|
|
NM_182961.4(SYNE1):c.19635G>C (p.Arg6545Ser)
|
rs147143947
|
|
|
NM_182961.4(SYNE1):c.19663C>G (p.Pro6555Ala)
|
|
|
|
NM_182961.4(SYNE1):c.19680C>G (p.Leu6560=)
|
|
|
|
NM_182961.4(SYNE1):c.19720A>G (p.Ile6574Val)
|
|
|
|
NM_182961.4(SYNE1):c.19787A>G (p.Gln6596Arg)
|
rs2085923878
|
|
|
NM_182961.4(SYNE1):c.19826T>C (p.Met6609Thr)
|
rs769943207
|
|
|
NM_182961.4(SYNE1):c.19853C>T (p.Ser6618Phe)
|
|
|
|
NM_182961.4(SYNE1):c.19893+5A>G
|
rs374102244
|
|
|
NM_182961.4(SYNE1):c.19893+6T>C
|
rs377413112
|
|
|
NM_182961.4(SYNE1):c.19918C>T (p.His6640Tyr)
|
|
|
|
NM_182961.4(SYNE1):c.19951A>C (p.Ile6651Leu)
|
|
|
|
NM_182961.4(SYNE1):c.19980_19981delinsAA (p.Gln6661Lys)
|
rs2153551621
|
|
|
NM_182961.4(SYNE1):c.19987C>T (p.His6663Tyr)
|
|
|
|
NM_182961.4(SYNE1):c.20000T>C (p.Met6667Thr)
|
rs2085071185
|
|
|
NM_182961.4(SYNE1):c.20002G>T (p.Ala6668Ser)
|
rs770873356
|
|
|
NM_182961.4(SYNE1):c.20008G>A (p.Ala6670Thr)
|
|
|
|
NM_182961.4(SYNE1):c.20017G>T (p.Val6673Leu)
|
rs578055399
|
|
|
NM_182961.4(SYNE1):c.20029G>T (p.Ala6677Ser)
|
rs1376604930
|
|
|
NM_182961.4(SYNE1):c.20104A>G (p.Ser6702Gly)
|
rs2084228622
|
|
|
NM_182961.4(SYNE1):c.20111A>T (p.Gln6704Leu)
|
rs1189558235
|
|
|
NM_182961.4(SYNE1):c.20122G>C (p.Val6708Leu)
|
rs765132195
|
|
|
NM_182961.4(SYNE1):c.20157G>C (p.Glu6719Asp)
|
rs769305344
|
|
|
NM_182961.4(SYNE1):c.20162A>G (p.Asn6721Ser)
|
|
|
|
NM_182961.4(SYNE1):c.20230C>T (p.Pro6744Ser)
|
|
|
|
NM_182961.4(SYNE1):c.20315T>G (p.Leu6772Arg)
|
|
|
|
NM_182961.4(SYNE1):c.20362C>A (p.His6788Asn)
|
rs949257779
|
|
|
NM_182961.4(SYNE1):c.20364C>A (p.His6788Gln)
|
|
|
|
NM_182961.4(SYNE1):c.20395A>G (p.Arg6799Gly)
|
rs2153534806
|
|
|
NM_182961.4(SYNE1):c.20401C>G (p.Gln6801Glu)
|
|
|
|
NM_182961.4(SYNE1):c.20419C>G (p.Leu6807Val)
|
rs2083603543
|
|
|
NM_182961.4(SYNE1):c.20441C>T (p.Ala6814Val)
|
rs1562385964
|
|
|
NM_182961.4(SYNE1):c.20450G>A (p.Arg6817Gln)
|
|
|
|
NM_182961.4(SYNE1):c.20506C>T (p.Arg6836Cys)
|
|
|
|
NM_182961.4(SYNE1):c.20507G>A (p.Arg6836His)
|
|
|
|
NM_182961.4(SYNE1):c.20614G>T (p.Val6872Leu)
|
|
|
|
NM_182961.4(SYNE1):c.20636C>T (p.Ser6879Phe)
|
rs769820392
|
|
|
NM_182961.4(SYNE1):c.20645C>G (p.Ser6882Trp)
|
|
|
|
NM_182961.4(SYNE1):c.20648G>A (p.Arg6883His)
|
rs758105121
|
|
|
NM_182961.4(SYNE1):c.20648G>T (p.Arg6883Leu)
|
|
|
|
NM_182961.4(SYNE1):c.20666C>G (p.Thr6889Ser)
|
rs2083351978
|
|
|
NM_182961.4(SYNE1):c.20687C>T (p.Pro6896Leu)
|
|
|
|
NM_182961.4(SYNE1):c.20690C>T (p.Ala6897Val)
|
rs369855513
|
|
|
NM_182961.4(SYNE1):c.20692G>T (p.Val6898Phe)
|
|
|
|
NM_182961.4(SYNE1):c.20712G>T (p.Gln6904His)
|
|
|
|
NM_182961.4(SYNE1):c.20746A>G (p.Ile6916Val)
|
|
|
|
NM_182961.4(SYNE1):c.20773C>G (p.Leu6925Val)
|
|
|
|
NM_182961.4(SYNE1):c.20795A>C (p.Lys6932Thr)
|
|
|
|
NM_182961.4(SYNE1):c.20817T>A (p.Asn6939Lys)
|
|
|
|
NM_182961.4(SYNE1):c.20818T>G (p.Ser6940Ala)
|
|
|
|
NM_182961.4(SYNE1):c.20843A>G (p.Glu6948Gly)
|
rs886044105
|
|
|
NM_182961.4(SYNE1):c.20851C>G (p.Gln6951Glu)
|
rs2153517122
|
|
|
NM_182961.4(SYNE1):c.20862+5T>A
|
|
|
|
NM_182961.4(SYNE1):c.20900T>C (p.Val6967Ala)
|
|
|
|
NM_182961.4(SYNE1):c.20928A>C (p.Gln6976His)
|
rs763904392
|
|
|
NM_182961.4(SYNE1):c.20941G>T (p.Asp6981Tyr)
|
|
|
|
NM_182961.4(SYNE1):c.20956C>T (p.Arg6986Cys)
|
|
|
|
NM_182961.4(SYNE1):c.20975T>A (p.Phe6992Tyr)
|
rs2082727720
|
|
|
NM_182961.4(SYNE1):c.21005_21006delinsAG (p.Ser7002Lys)
|
|
|
|
NM_182961.4(SYNE1):c.21007T>A (p.Trp7003Arg)
|
rs2082723314
|
|
|
NM_182961.4(SYNE1):c.21007T>C (p.Trp7003Arg)
|
rs2082723314
|
|
|
NM_182961.4(SYNE1):c.21011A>G (p.Gln7004Arg)
|
|
|
|
NM_182961.4(SYNE1):c.21040A>C (p.Ile7014Leu)
|
|
|
|
NM_182961.4(SYNE1):c.21042C>A (p.Ile7014=)
|
|
|
|
NM_182961.4(SYNE1):c.21058T>G (p.Leu7020Val)
|
|
|
|
NM_182961.4(SYNE1):c.21090T>G (p.Asn7030Lys)
|
rs758318901
|
|
|
NM_182961.4(SYNE1):c.21113T>C (p.Phe7038Ser)
|
rs2153509730
|
|
|
NM_182961.4(SYNE1):c.21131G>A (p.Arg7044Lys)
|
|
|
|
NM_182961.4(SYNE1):c.2116A>T (p.Met706Leu)
|
rs2098742431
|
|
|
NM_182961.4(SYNE1):c.21179C>T (p.Ala7060Val)
|
|
|
|
NM_182961.4(SYNE1):c.21184A>C (p.Lys7062Gln)
|
rs771203839
|
|
|
NM_182961.4(SYNE1):c.21187G>C (p.Asp7063His)
|
rs1267961945
|
|
|
NM_182961.4(SYNE1):c.21193C>G (p.Gln7065Glu)
|
rs2153509038
|
|
|
NM_182961.4(SYNE1):c.21195+17G>A
|
|
|
|
NM_182961.4(SYNE1):c.21221A>G (p.Lys7074Arg)
|
rs749981989
|
|
|
NM_182961.4(SYNE1):c.21235G>C (p.Glu7079Gln)
|
rs2081454702
|
|
|
NM_182961.4(SYNE1):c.2123G>A (p.Arg708Lys)
|
|
|
|
NM_182961.4(SYNE1):c.21251A>G (p.Asn7084Ser)
|
|
|
|
NM_182961.4(SYNE1):c.21259G>T (p.Ala7087Ser)
|
rs1321824454
|
|
|
NM_182961.4(SYNE1):c.21271A>T (p.Asn7091Tyr)
|
rs777618601
|
|
|
NM_182961.4(SYNE1):c.21317A>T (p.Glu7106Val)
|
rs2153485074
|
|
|
NM_182961.4(SYNE1):c.21351+4A>G
|
rs2081431126
|
|
|
NM_182961.4(SYNE1):c.21370C>G (p.Leu7124Val)
|
|
|
|
NM_182961.4(SYNE1):c.21426A>G (p.Ile7142Met)
|
rs775691059
|
|
|
NM_182961.4(SYNE1):c.21436C>T (p.Leu7146Phe)
|
rs776459203
|
|
|
NM_182961.4(SYNE1):c.21445G>A (p.Ala7149Thr)
|
|
|
|
NM_182961.4(SYNE1):c.21464G>A (p.Arg7155Gln)
|
|
|
|
NM_182961.4(SYNE1):c.21468C>G (p.Phe7156Leu)
|
|
|
|
NM_182961.4(SYNE1):c.2147G>A (p.Cys716Tyr)
|
rs369355230
|
|
|
NM_182961.4(SYNE1):c.21522+6del
|
|
|
|
NM_182961.4(SYNE1):c.21586C>A (p.Gln7196Lys)
|
rs780059512
|
|
|
NM_182961.4(SYNE1):c.21602G>A (p.Cys7201Tyr)
|
rs794727041
|
|
|
NM_182961.4(SYNE1):c.21685G>A (p.Glu7229Lys)
|
|
|
|
NM_182961.4(SYNE1):c.21694C>G (p.Gln7232Glu)
|
|
|
|
NM_182961.4(SYNE1):c.21820A>T (p.Ile7274Phe)
|
rs775870306
|
|
|
NM_182961.4(SYNE1):c.21826G>A (p.Asp7276Asn)
|
|
|
|
NM_182961.4(SYNE1):c.21832G>A (p.Glu7278Lys)
|
|
|
|
NM_182961.4(SYNE1):c.2186A>G (p.Lys729Arg)
|
rs2098742034
|
|
|
NM_182961.4(SYNE1):c.21881G>A (p.Gly7294Asp)
|
rs1377401737
|
|
|
NM_182961.4(SYNE1):c.218A>C (p.Gln73Pro)
|
rs2154353751
|
|
|
NM_182961.4(SYNE1):c.21909C>G (p.Leu7303=)
|
|
|
|
NM_182961.4(SYNE1):c.21911A>G (p.His7304Arg)
|
rs557878312
|
|
|
NM_182961.4(SYNE1):c.21936A>T (p.Gln7312His)
|
rs968163245
|
|
|
NM_182961.4(SYNE1):c.21961G>A (p.Ala7321Thr)
|
|
|
|
NM_182961.4(SYNE1):c.21977A>T (p.Gln7326Leu)
|
|
|
|
NM_182961.4(SYNE1):c.21978A>C (p.Gln7326His)
|
|
|
|
NM_182961.4(SYNE1):c.21986T>C (p.Leu7329Ser)
|
rs2079440770
|
|
|
NM_182961.4(SYNE1):c.21989G>T (p.Ser7330Ile)
|
rs1588081530
|
|
|
NM_182961.4(SYNE1):c.22009G>C (p.Glu7337Gln)
|
|
|
|
NM_182961.4(SYNE1):c.22042C>G (p.Gln7348Glu)
|
rs2079430530
|
|
|
NM_182961.4(SYNE1):c.22043A>G (p.Gln7348Arg)
|
|
|
|
NM_182961.4(SYNE1):c.2204T>C (p.Leu735Ser)
|
|
|
|
NM_182961.4(SYNE1):c.22054C>A (p.Leu7352Ile)
|
rs1199232781
|
|
|
NM_182961.4(SYNE1):c.22060T>C (p.Tyr7354His)
|
rs944485518
|
|
|
NM_182961.4(SYNE1):c.22066A>G (p.Thr7356Ala)
|
|
|
|
NM_182961.4(SYNE1):c.22073C>T (p.Ala7358Val)
|
|
|
|
NM_182961.4(SYNE1):c.2209G>A (p.Val737Ile)
|
rs2154266865
|
|
|
NM_182961.4(SYNE1):c.2209G>T (p.Val737Phe)
|
|
|
|
NM_182961.4(SYNE1):c.22106T>C (p.Val7369Ala)
|
|
|
|
NM_182961.4(SYNE1):c.22118A>T (p.Glu7373Val)
|
rs1588067419
|
|
|
NM_182961.4(SYNE1):c.22135G>A (p.Asp7379Asn)
|
|
|
|
NM_182961.4(SYNE1):c.22153G>A (p.Asp7385Asn)
|
rs886043280
|
|
|
NM_182961.4(SYNE1):c.22154A>T (p.Asp7385Val)
|
rs2153454164
|
|
|
NM_182961.4(SYNE1):c.22191+4A>G
|
rs2153454005
|
|
|
NM_182961.4(SYNE1):c.22192-14A>G
|
|
|
|
NM_182961.4(SYNE1):c.22200G>A (p.Met7400Ile)
|
|
|
|
NM_182961.4(SYNE1):c.22214G>T (p.Ser7405Ile)
|
rs778036632
|
|
|
NM_182961.4(SYNE1):c.22241A>G (p.Asn7414Ser)
|
rs760439015
|
|
|
NM_182961.4(SYNE1):c.22245G>T (p.Glu7415Asp)
|
rs767375107
|
|
|
NM_182961.4(SYNE1):c.22253A>G (p.Tyr7418Cys)
|
rs554483231
|
|
|
NM_182961.4(SYNE1):c.22320CTC[1] (p.Ser7442del)
|
rs756712103
|
|
|
NM_182961.4(SYNE1):c.22346+6G>A
|
|
|
|
NM_182961.4(SYNE1):c.22362T>A (p.Phe7454Leu)
|
rs371289584
|
|
|
NM_182961.4(SYNE1):c.22377G>T (p.Gln7459His)
|
|
|
|
NM_182961.4(SYNE1):c.22433A>C (p.Lys7478Thr)
|
|
|
|
NM_182961.4(SYNE1):c.22445A>G (p.Glu7482Gly)
|
rs1587952687
|
|
|
NM_182961.4(SYNE1):c.22479G>T (p.Gln7493His)
|
|
|
|
NM_182961.4(SYNE1):c.22491C>G (p.His7497Gln)
|
|
|
|
NM_182961.4(SYNE1):c.22494+4A>G
|
|
|
|
NM_182961.4(SYNE1):c.22494G>A (p.Glu7498=)
|
|
|
|
NM_182961.4(SYNE1):c.225+5G>C
|
rs1594697066
|
|
|
NM_182961.4(SYNE1):c.22546A>G (p.Ile7516Val)
|
rs963496863
|
|
|
NM_182961.4(SYNE1):c.22561C>A (p.Leu7521Ile)
|
|
|
|
NM_182961.4(SYNE1):c.22579G>A (p.Val7527Ile)
|
rs1554568810
|
|
|
NM_182961.4(SYNE1):c.22582G>A (p.Asp7528Asn)
|
|
|
|
NM_182961.4(SYNE1):c.22589+4G>A
|
|
|
|
NM_182961.4(SYNE1):c.22589+4G>T
|
rs563408259
|
|
|
NM_182961.4(SYNE1):c.22590-3T>C
|
rs1400330082
|
|
|
NM_182961.4(SYNE1):c.22592A>T (p.Asp7531Val)
|
rs2153409793
|
|
|
NM_182961.4(SYNE1):c.22664G>A (p.Arg7555Gln)
|
|
|
|
NM_182961.4(SYNE1):c.22669A>T (p.Ile7557Phe)
|
rs760818352
|
|
|
NM_182961.4(SYNE1):c.22673T>C (p.Ile7558Thr)
|
|
|
|
NM_182961.4(SYNE1):c.22688G>A (p.Arg7563His)
|
rs768489386
|
|
|
NM_182961.4(SYNE1):c.226C>G (p.Pro76Ala)
|
rs775028308
|
|
|
NM_182961.4(SYNE1):c.22726C>T (p.Arg7576Cys)
|
|
|
|
NM_182961.4(SYNE1):c.22727G>A (p.Arg7576His)
|
|
|
|
NM_182961.4(SYNE1):c.22777G>T (p.Val7593Phe)
|
rs2076839550
|
|
|
NM_182961.4(SYNE1):c.22790T>G (p.Leu7597Arg)
|
rs2153408771
|
|
|
NM_182961.4(SYNE1):c.22792C>G (p.Gln7598Glu)
|
|
|
|
NM_182961.4(SYNE1):c.22814A>G (p.Asp7605Gly)
|
rs2153408610
|
|
|
NM_182961.4(SYNE1):c.22825-3C>A
|
rs2153398590
|
|
|
NM_182961.4(SYNE1):c.22856G>A (p.Gly7619Asp)
|
rs2153398375
|
|
|
NM_182961.4(SYNE1):c.22874T>G (p.Val7625Gly)
|
|
|
|
NM_182961.4(SYNE1):c.22879G>T (p.Ala7627Ser)
|
rs2153398279
|
|
|
NM_182961.4(SYNE1):c.22896_22898del (p.Leu7633del)
|
rs1360697609
|
|
|
NM_182961.4(SYNE1):c.22904C>T (p.Ala7635Val)
|
rs555792275
|
|
|
NM_182961.4(SYNE1):c.22924G>A (p.Ala7642Thr)
|
rs776115026
|
|
|
NM_182961.4(SYNE1):c.22927T>G (p.Leu7643Val)
|
|
|
|
NM_182961.4(SYNE1):c.22936G>A (p.Glu7646Lys)
|
|
|
|
NM_182961.4(SYNE1):c.22952A>G (p.Gln7651Arg)
|
rs993798442
|
|
|
NM_182961.4(SYNE1):c.2296A>G (p.Ile766Val)
|
|
|
|
NM_182961.4(SYNE1):c.23047G>A (p.Ala7683Thr)
|
rs1161832578
|
|
|
NM_182961.4(SYNE1):c.23052T>G (p.Asp7684Glu)
|
rs1201437684
|
|
|
NM_182961.4(SYNE1):c.23059G>C (p.Glu7687Gln)
|
rs768705708
|
|
|
NM_182961.4(SYNE1):c.2308G>A (p.Ala770Thr)
|
rs767407271
|
|
|
NM_182961.4(SYNE1):c.23093A>G (p.Gln7698Arg)
|
rs1452755990
|
|
|
NM_182961.4(SYNE1):c.23131C>A (p.Gln7711Lys)
|
|
|
|
NM_182961.4(SYNE1):c.23170T>C (p.Trp7724Arg)
|
|
|
|
NM_182961.4(SYNE1):c.23196C>G (p.Ser7732Arg)
|
rs1554518143
|
|
|
NM_182961.4(SYNE1):c.23222A>C (p.Tyr7741Ser)
|
|
|
|
NM_182961.4(SYNE1):c.23222A>T (p.Tyr7741Phe)
|
|
|
|
NM_182961.4(SYNE1):c.23234A>G (p.Asp7745Gly)
|
|
|
|
NM_182961.4(SYNE1):c.23242T>A (p.Ser7748Thr)
|
rs2153229567
|
|
|
NM_182961.4(SYNE1):c.23245A>G (p.Ile7749Val)
|
|
|
|
NM_182961.4(SYNE1):c.23257C>T (p.Arg7753Cys)
|
rs138747167
|
|
|
NM_182961.4(SYNE1):c.23296C>T (p.His7766Tyr)
|
rs886043037
|
|
|
NM_182961.4(SYNE1):c.2330_2353dup (p.Glu784_Met785insSerProGlnGluGluGlyLysGlu)
|
|
|
|
NM_182961.4(SYNE1):c.23327G>A (p.Gly7776Asp)
|
|
|
|
NM_182961.4(SYNE1):c.23335T>G (p.Leu7779Val)
|
rs200800604
|
|
|
NM_182961.4(SYNE1):c.23374C>T (p.Leu7792Phe)
|
|
|
|
NM_182961.4(SYNE1):c.23378G>T (p.Cys7793Phe)
|
|
|
|
NM_182961.4(SYNE1):c.23407G>A (p.Val7803Ile)
|
|
|
|
NM_182961.4(SYNE1):c.23419G>A (p.Gly7807Arg)
|
rs2067600593
|
|
|
NM_182961.4(SYNE1):c.23470G>A (p.Glu7824Lys)
|
|
|
|
NM_182961.4(SYNE1):c.23548A>T (p.Ser7850Cys)
|
rs2066481563
|
|
|
NM_182961.4(SYNE1):c.23562G>T (p.Glu7854Asp)
|
rs894257787
|
|
|
NM_182961.4(SYNE1):c.2359G>A (p.Ala787Thr)
|
|
|
|
NM_182961.4(SYNE1):c.2359_2360delinsAA (p.Ala787Lys)
|
rs1593187196
|
|
|
NM_182961.4(SYNE1):c.2360C>T (p.Ala787Val)
|
rs147406318
|
|
|
NM_182961.4(SYNE1):c.23617A>C (p.Ile7873Leu)
|
|
|
|
NM_182961.4(SYNE1):c.23618T>C (p.Ile7873Thr)
|
rs1331488136
|
|
|
NM_182961.4(SYNE1):c.23635A>G (p.Lys7879Glu)
|
rs2153026780
|
|
|
NM_182961.4(SYNE1):c.2367G>C (p.Met789Ile)
|
|
|
|
NM_182961.4(SYNE1):c.23681T>C (p.Met7894Thr)
|
|
|
|
NM_182961.4(SYNE1):c.23685C>A (p.Ser7895Arg)
|
rs192734406
|
|
|
NM_182961.4(SYNE1):c.23694G>T (p.Arg7898Ser)
|
rs1028548586
|
|
|
NM_182961.4(SYNE1):c.23696C>T (p.Thr7899Ile)
|
rs757122298
|
|
|
NM_182961.4(SYNE1):c.23716T>G (p.Ser7906Ala)
|
rs2063146847
|
|
|
NM_182961.4(SYNE1):c.23717C>T (p.Ser7906Leu)
|
rs2153025842
|
|
|
NM_182961.4(SYNE1):c.23735T>C (p.Ile7912Thr)
|
rs2153025589
|
|
|
NM_182961.4(SYNE1):c.23779A>C (p.Asn7927His)
|
rs2063133832
|
|
|
NM_182961.4(SYNE1):c.23791-6C>G
|
|
|
|
NM_182961.4(SYNE1):c.23815C>T (p.His7939Tyr)
|
|
|
|
NM_182961.4(SYNE1):c.23824G>A (p.Gly7942Ser)
|
|
|
|
NM_182961.4(SYNE1):c.23903C>G (p.Ser7968Cys)
|
rs1554441768
|
|
|
NM_182961.4(SYNE1):c.23905A>G (p.Ile7969Val)
|
rs766732148
|
|
|
NM_182961.4(SYNE1):c.23914G>A (p.Ala7972Thr)
|
rs1000667542
|
|
|
NM_182961.4(SYNE1):c.23950T>C (p.Cys7984Arg)
|
rs1586408465
|
|
|
NM_182961.4(SYNE1):c.23956A>G (p.Met7986Val)
|
|
|
|
NM_182961.4(SYNE1):c.23990C>T (p.Thr7997Met)
|
rs757366114
|
|
|
NM_182961.4(SYNE1):c.23999T>C (p.Leu8000Ser)
|
|
|
|
NM_182961.4(SYNE1):c.2404T>C (p.Cys802Arg)
|
rs2098714288
|
|
|
NM_182961.4(SYNE1):c.2405G>A (p.Cys802Tyr)
|
|
|
|
NM_182961.4(SYNE1):c.24120G>C (p.Lys8040Asn)
|
rs2152941881
|
|
|
NM_182961.4(SYNE1):c.24122A>C (p.Lys8041Thr)
|
rs2152941858
|
|
|
NM_182961.4(SYNE1):c.24130-3T>C
|
|
|
|
NM_182961.4(SYNE1):c.24160A>T (p.Thr8054Ser)
|
|
|
|
NM_182961.4(SYNE1):c.24191G>T (p.Arg8064Leu)
|
|
|
|
NM_182961.4(SYNE1):c.24194G>A (p.Arg8065His)
|
rs201956180
|
|
|
NM_182961.4(SYNE1):c.24232C>G (p.Leu8078Val)
|
|
|
|
NM_182961.4(SYNE1):c.24263G>A (p.Arg8088Lys)
|
|
|
|
NM_182961.4(SYNE1):c.24284G>A (p.Arg8095His)
|
rs119103246
|
|
|
NM_182961.4(SYNE1):c.24310A>G (p.Lys8104Glu)
|
rs1563054108
|
|
|
NM_182961.4(SYNE1):c.24328C>T (p.Arg8110Cys)
|
rs749473816
|
|
|
NM_182961.4(SYNE1):c.2436G>C (p.Gln812His)
|
|
|
|
NM_182961.4(SYNE1):c.24373A>C (p.Thr8125Pro)
|
rs2152915749
|
|
|
NM_182961.4(SYNE1):c.24433A>G (p.Lys8145Glu)
|
|
|
|
NM_182961.4(SYNE1):c.24450+8A>G
|
|
|
|
NM_182961.4(SYNE1):c.24462G>C (p.Gln8154His)
|
|
|
|
NM_182961.4(SYNE1):c.2446C>A (p.Pro816Thr)
|
rs2098714101
|
|
|
NM_182961.4(SYNE1):c.2447C>T (p.Pro816Leu)
|
|
|
|
NM_182961.4(SYNE1):c.24481A>G (p.Asn8161Asp)
|
rs36215251
|
|
|
NM_182961.4(SYNE1):c.24497T>C (p.Ile8166Thr)
|
rs201904925
|
|
|
NM_182961.4(SYNE1):c.24503C>A (p.Ala8168Asp)
|
rs1297857077
|
|
|
NM_182961.4(SYNE1):c.24551T>C (p.Ile8184Thr)
|
rs1344598258
|
|
|
NM_182961.4(SYNE1):c.24555C>G (p.Ile8185Met)
|
rs201799566
|
|
|
NM_182961.4(SYNE1):c.245G>T (p.Arg82Leu)
|
rs143900928
|
|
|
NM_182961.4(SYNE1):c.24664C>G (p.Leu8222Val)
|
rs2152881730
|
|
|
NM_182961.4(SYNE1):c.24673A>G (p.Arg8225Gly)
|
rs759109611
|
|
|
NM_182961.4(SYNE1):c.24675G>T (p.Arg8225Ser)
|
|
|
|
NM_182961.4(SYNE1):c.24679C>A (p.Leu8227Met)
|
|
|
|
NM_182961.4(SYNE1):c.24683A>G (p.Glu8228Gly)
|
|
|
|
NM_182961.4(SYNE1):c.24694T>C (p.Ser8232Pro)
|
|
|
|
NM_182961.4(SYNE1):c.24707C>T (p.Ser8236Leu)
|
|
|
|
NM_182961.4(SYNE1):c.24709G>T (p.Asp8237Tyr)
|
rs2152881229
|
|
|
NM_182961.4(SYNE1):c.24757C>G (p.Pro8253Ala)
|
rs952705892
|
|
|
NM_182961.4(SYNE1):c.24805C>T (p.Arg8269Trp)
|
|
|
|
NM_182961.4(SYNE1):c.24806G>A (p.Arg8269Gln)
|
|
|
|
NM_182961.4(SYNE1):c.24806G>T (p.Arg8269Leu)
|
rs148367376
|
|
|
NM_182961.4(SYNE1):c.24832G>A (p.Val8278Met)
|
rs200663180
|
|
|
NM_182961.4(SYNE1):c.24837C>G (p.Asp8279Glu)
|
|
|
|
NM_182961.4(SYNE1):c.24875G>A (p.Ser8292Asn)
|
rs754883031
|
|
|
NM_182961.4(SYNE1):c.24892G>A (p.Ala8298Thr)
|
|
|
|
NM_182961.4(SYNE1):c.24929G>A (p.Gly8310Asp)
|
rs1253089660
|
|
|
NM_182961.4(SYNE1):c.24972A>C (p.Leu8324Phe)
|
rs1554420700
|
|
|
NM_182961.4(SYNE1):c.24989C>T (p.Ala8330Val)
|
|
|
|
NM_182961.4(SYNE1):c.24992T>C (p.Leu8331Pro)
|
rs532387179
|
|
|
NM_182961.4(SYNE1):c.25014_25015delinsCT (p.Gly8339Cys)
|
rs2152832436
|
|
|
NM_182961.4(SYNE1):c.25030G>A (p.Asp8344Asn)
|
|
|
|
NM_182961.4(SYNE1):c.25037_25038delinsTC (p.Arg8346Leu)
|
|
|
|
NM_182961.4(SYNE1):c.25051C>G (p.Gln8351Glu)
|
rs886044213
|
|
|
NM_182961.4(SYNE1):c.25091C>G (p.Pro8364Arg)
|
|
|
|
NM_182961.4(SYNE1):c.25115G>T (p.Gly8372Val)
|
|
|
|
NM_182961.4(SYNE1):c.25120-3C>T
|
rs749447242
|
|
|
NM_182961.4(SYNE1):c.25139G>T (p.Cys8380Phe)
|
|
|
|
NM_182961.4(SYNE1):c.25150A>G (p.Ile8384Val)
|
rs1421570389
|
|
|
NM_182961.4(SYNE1):c.25151T>C (p.Ile8384Thr)
|
|
|
|
NM_182961.4(SYNE1):c.25159G>T (p.Val8387Leu)
|
rs119103247
|
|
|
NM_182961.4(SYNE1):c.25192GAG[1] (p.Glu8399del)
|
|
|
|
NM_182961.4(SYNE1):c.25193A>G (p.Glu8398Gly)
|
rs2152810960
|
|
|
NM_182961.4(SYNE1):c.25199G>A (p.Ser8400Asn)
|
rs769976238
|
|
|
NM_182961.4(SYNE1):c.25199G>T (p.Ser8400Ile)
|
rs769976238
|
|
|
NM_182961.4(SYNE1):c.25231G>C (p.Glu8411Gln)
|
rs371211999
|
|
|
NM_182961.4(SYNE1):c.25234A>G (p.Thr8412Ala)
|
|
|
|
NM_182961.4(SYNE1):c.25259G>A (p.Arg8420Gln)
|
rs556231915
|
|
|
NM_182961.4(SYNE1):c.25267C>T (p.Leu8423Phe)
|
|
|
|
NM_182961.4(SYNE1):c.25375A>C (p.Thr8459Pro)
|
rs754937504
|
|
|
NM_182961.4(SYNE1):c.25384G>A (p.Glu8462Lys)
|
|
|
|
NM_182961.4(SYNE1):c.25386G>C (p.Glu8462Asp)
|
|
|
|
NM_182961.4(SYNE1):c.25435G>A (p.Glu8479Lys)
|
rs754577367
|
|
|
NM_182961.4(SYNE1):c.25439T>A (p.Leu8480His)
|
rs2152799197
|
|
|
NM_182961.4(SYNE1):c.25498C>G (p.Leu8500Val)
|
|
|
|
NM_182961.4(SYNE1):c.25504A>G (p.Ile8502Val)
|
rs2057180997
|
|
|
NM_182961.4(SYNE1):c.25528A>C (p.Thr8510Pro)
|
|
|
|
NM_182961.4(SYNE1):c.25529C>T (p.Thr8510Ile)
|
rs1404247560
|
|
|
NM_182961.4(SYNE1):c.25589G>A (p.Arg8530His)
|
|
|
|
NM_182961.4(SYNE1):c.25591T>A (p.Trp8531Arg)
|
|
|
|
NM_182961.4(SYNE1):c.25598G>A (p.Arg8533Gln)
|
rs1420121296
|
|
|
NM_182961.4(SYNE1):c.25604G>A (p.Cys8535Tyr)
|
|
|
|
NM_182961.4(SYNE1):c.25634T>G (p.Leu8545Arg)
|
|
|
|
NM_182961.4(SYNE1):c.25679A>G (p.His8560Arg)
|
rs1164254591
|
|
|
NM_182961.4(SYNE1):c.25705A>G (p.Ile8569Val)
|
rs1260198851
|
|
|
NM_182961.4(SYNE1):c.25717A>G (p.Lys8573Glu)
|
rs1562922141
|
|
|
NM_182961.4(SYNE1):c.25747C>G (p.Leu8583Val)
|
|
|
|
NM_182961.4(SYNE1):c.25750G>A (p.Asp8584Asn)
|
|
|
|
NM_182961.4(SYNE1):c.25751A>G (p.Asp8584Gly)
|
|
|
|
NM_182961.4(SYNE1):c.25756G>A (p.Glu8586Lys)
|
|
|
|
NM_182961.4(SYNE1):c.25776C>A (p.His8592Gln)
|
rs544950546
|
|
|
NM_182961.4(SYNE1):c.25788+6A>G
|
|
|
|
NM_182961.4(SYNE1):c.25791A>T (p.Gln8597His)
|
|
|
|
NM_182961.4(SYNE1):c.25797G>T (p.Lys8599Asn)
|
|
|
|
NM_182961.4(SYNE1):c.25820T>C (p.Leu8607Pro)
|
rs2152720317
|
|
|
NM_182961.4(SYNE1):c.25840G>C (p.Asp8614His)
|
rs756313747
|
|
|
NM_182961.4(SYNE1):c.25843A>C (p.Met8615Leu)
|
|
|
|
NM_182961.4(SYNE1):c.25904T>C (p.Val8635Ala)
|
|
|
|
NM_182961.4(SYNE1):c.25916G>C (p.Gly8639Ala)
|
|
|
|
NM_182961.4(SYNE1):c.2591A>G (p.Asn864Ser)
|
rs13210845
|
|
|
NM_182961.4(SYNE1):c.2593T>A (p.Cys865Ser)
|
rs1192925822
|
|
|
NM_182961.4(SYNE1):c.25984G>A (p.Val8662Met)
|
|
|
|
NM_182961.4(SYNE1):c.26023G>A (p.Ala8675Thr)
|
rs1554376325
|
|
|
NM_182961.4(SYNE1):c.26066G>A (p.Gly8689Glu)
|
rs2152705585
|
|
|
NM_182961.4(SYNE1):c.26068A>G (p.Arg8690Gly)
|
|
|
|
NM_182961.4(SYNE1):c.26073C>A (p.Ser8691Arg)
|
|
|
|
NM_182961.4(SYNE1):c.26138G>T (p.Ser8713Ile)
|
|
|
|
NM_182961.4(SYNE1):c.26153+6T>C
|
|
|
|
NM_182961.4(SYNE1):c.26180C>T (p.Ser8727Phe)
|
rs1585315718
|
|
|
NM_182961.4(SYNE1):c.26195G>A (p.Gly8732Glu)
|
rs1554349162
|
|
|
NM_182961.4(SYNE1):c.26204G>T (p.Arg8735Leu)
|
rs2295192
|
|
|
NM_182961.4(SYNE1):c.26207C>A (p.Ser8736Tyr)
|
rs1258213221
|
|
|
NM_182961.4(SYNE1):c.26266CTC[2] (p.Leu8758del)
|
rs1310428962
|
|
|
NM_182961.4(SYNE1):c.26285C>T (p.Ala8762Val)
|
rs983040762
|
|
|
NM_182961.4(SYNE1):c.26308G>A (p.Glu8770Lys)
|
|
|
|
NM_182961.4(SYNE1):c.26352C>A (p.Phe8784Leu)
|
rs2051624339
|
|
|
NM_182961.4(SYNE1):c.26372C>A (p.Thr8791Lys)
|
rs567376316
|
|
|
NM_182961.4(SYNE1):c.26372C>T (p.Thr8791Met)
|
rs567376316
|
|
|
NM_182961.4(SYNE1):c.26375A>G (p.Asn8792Ser)
|
rs754932611
|
|
|
NM_182961.4(SYNE1):c.2684C>G (p.Thr895Arg)
|
rs373633207
|
|
|
NM_182961.4(SYNE1):c.2684C>T (p.Thr895Met)
|
rs373633207
|
|
|
NM_182961.4(SYNE1):c.2688G>C (p.Arg896Ser)
|
|
|
|
NM_182961.4(SYNE1):c.2728-14T>C
|
|
|
|
NM_182961.4(SYNE1):c.2728A>T (p.Ser910Cys)
|
rs141214076
|
|
|
NM_182961.4(SYNE1):c.274A>G (p.Ile92Val)
|
rs756151309
|
|
|
NM_182961.4(SYNE1):c.2761C>T (p.His921Tyr)
|
rs746476950
|
|
|
NM_182961.4(SYNE1):c.2779C>T (p.Arg927Cys)
|
|
|
|
NM_182961.4(SYNE1):c.2780G>A (p.Arg927His)
|
|
|
|
NM_182961.4(SYNE1):c.2798A>G (p.Glu933Gly)
|
rs2098689694
|
|
|
NM_182961.4(SYNE1):c.2810C>A (p.Ala937Glu)
|
|
|
|
NM_182961.4(SYNE1):c.281C>T (p.Thr94Met)
|
|
|
|
NM_182961.4(SYNE1):c.2821A>G (p.Lys941Glu)
|
rs2154257288
|
|
|
NM_182961.4(SYNE1):c.2830C>T (p.Arg944Trp)
|
|
|
|
NM_182961.4(SYNE1):c.2831G>A (p.Arg944Gln)
|
|
|
|
NM_182961.4(SYNE1):c.2846G>A (p.Gly949Asp)
|
|
|
|
NM_182961.4(SYNE1):c.2869G>C (p.Glu957Gln)
|
rs2154257153
|
|
|
NM_182961.4(SYNE1):c.2974C>A (p.Gln992Lys)
|
|
|
|
NM_182961.4(SYNE1):c.2975A>C (p.Gln992Pro)
|
rs1564137172
|
|
|
NM_182961.4(SYNE1):c.2998G>A (p.Ala1000Thr)
|
rs771446969
|
|
|
NM_182961.4(SYNE1):c.299A>C (p.Glu100Ala)
|
|
|
|
NM_182961.4(SYNE1):c.3077T>C (p.Val1026Ala)
|
rs776586157
|
|
|
NM_182961.4(SYNE1):c.3083A>G (p.Lys1028Arg)
|
rs369619658
|
|
|
NM_182961.4(SYNE1):c.309+3A>G
|
rs2099133351
|
|
|
NM_182961.4(SYNE1):c.309+5G>C
|
rs2154348308
|
|
|
NM_182961.4(SYNE1):c.3090G>T (p.Arg1030Ser)
|
rs925892033
|
|
|
NM_182961.4(SYNE1):c.310-482C>T
|
rs561359644
|
|
|
NM_182961.4(SYNE1):c.310-7T>A
|
rs1341089745
|
|
|
NM_182961.4(SYNE1):c.3109G>A (p.Glu1037Lys)
|
rs545152377
|
|
|
NM_182961.4(SYNE1):c.3180G>C (p.Glu1060Asp)
|
|
|
|
NM_182961.4(SYNE1):c.3208C>A (p.Pro1070Thr)
|
|
|
|
NM_182961.4(SYNE1):c.3211C>T (p.His1071Tyr)
|
|
|
|
NM_182961.4(SYNE1):c.3217C>T (p.Leu1073Phe)
|
|
|
|
NM_182961.4(SYNE1):c.3230G>C (p.Arg1077Thr)
|
|
|
|
NM_182961.4(SYNE1):c.3230G>T (p.Arg1077Met)
|
|
|
|
NM_182961.4(SYNE1):c.323A>G (p.Asn108Ser)
|
|
|
|
NM_182961.4(SYNE1):c.3254G>A (p.Cys1085Tyr)
|
|
|
|
NM_182961.4(SYNE1):c.3256G>A (p.Val1086Met)
|
rs1592962615
|
|
|
NM_182961.4(SYNE1):c.3262C>T (p.Leu1088Phe)
|
rs2098641244
|
|
|
NM_182961.4(SYNE1):c.3304C>T (p.His1102Tyr)
|
rs2098640852
|
|
|
NM_182961.4(SYNE1):c.3319_3320delinsAT (p.Glu1107Met)
|
|
|
|
NM_182961.4(SYNE1):c.3321G>T (p.Glu1107Asp)
|
rs2154250248
|
|
|
NM_182961.4(SYNE1):c.3341G>A (p.Ser1114Asn)
|
rs377684975
|
|
|
NM_182961.4(SYNE1):c.3376T>C (p.Trp1126Arg)
|
|
|
|
NM_182961.4(SYNE1):c.3388A>T (p.Thr1130Ser)
|
rs1194769025
|
|
|
NM_182961.4(SYNE1):c.338A>G (p.Asp113Gly)
|
rs886044019
|
|
|
NM_182961.4(SYNE1):c.3419T>C (p.Ile1140Thr)
|
rs1352916426
|
|
|
NM_182961.4(SYNE1):c.3446G>A (p.Gly1149Glu)
|
rs1592939078
|
|
|
NM_182961.4(SYNE1):c.3494G>T (p.Arg1165Leu)
|
rs201354687
|
|
|
NM_182961.4(SYNE1):c.3504+5G>C
|
rs1398879746
|
|
|
NM_182961.4(SYNE1):c.3549G>T (p.Trp1183Cys)
|
rs2098603484
|
|
|
NM_182961.4(SYNE1):c.3556T>C (p.Ser1186Pro)
|
|
|
|
NM_182961.4(SYNE1):c.3630A>T (p.Leu1210Phe)
|
|
|
|
NM_182961.4(SYNE1):c.3649C>A (p.Leu1217Ile)
|
rs2154244956
|
|
|
NM_182961.4(SYNE1):c.3650T>C (p.Leu1217Pro)
|
|
|
|
NM_182961.4(SYNE1):c.3720A>G (p.Ile1240Met)
|
|
|
|
NM_182961.4(SYNE1):c.3736G>C (p.Glu1246Gln)
|
|
|
|
NM_182961.4(SYNE1):c.3749C>G (p.Ser1250Cys)
|
rs775456029
|
|
|
NM_182961.4(SYNE1):c.3769G>A (p.Glu1257Lys)
|
|
|
|
NM_182961.4(SYNE1):c.3772C>A (p.Gln1258Lys)
|
|
|
|
NM_182961.4(SYNE1):c.3803T>A (p.Leu1268Gln)
|
rs2154239333
|
|
|
NM_182961.4(SYNE1):c.3869G>C (p.Arg1290Thr)
|
|
|
|
NM_182961.4(SYNE1):c.3873T>G (p.Asp1291Glu)
|
|
|
|
NM_182961.4(SYNE1):c.3899A>G (p.Gln1300Arg)
|
|
|
|
NM_182961.4(SYNE1):c.38A>G (p.Asp13Gly)
|
rs2099690291
|
|
|
NM_182961.4(SYNE1):c.3911G>T (p.Gly1304Val)
|
|
|
|
NM_182961.4(SYNE1):c.3913G>A (p.Gly1305Arg)
|
rs1350747356
|
|
|
NM_182961.4(SYNE1):c.3914G>T (p.Gly1305Val)
|
|
|
|
NM_182961.4(SYNE1):c.3917T>C (p.Leu1306Pro)
|
rs1417438989
|
|
|
NM_182961.4(SYNE1):c.3926G>C (p.Arg1309Pro)
|
|
|
|
NM_182961.4(SYNE1):c.3956G>A (p.Ser1319Asn)
|
|
|
|
NM_182961.4(SYNE1):c.3958A>G (p.Thr1320Ala)
|
|
|
|
NM_182961.4(SYNE1):c.3971T>G (p.Leu1324Arg)
|
rs911005692
|
|
|
NM_182961.4(SYNE1):c.3977G>A (p.Arg1326His)
|
rs371842938
|
|
|
NM_182961.4(SYNE1):c.3977G>T (p.Arg1326Leu)
|
rs371842938
|
|
|
NM_182961.4(SYNE1):c.3982C>T (p.Arg1328Trp)
|
rs1465224604
|
|
|
NM_182961.4(SYNE1):c.4000C>G (p.Arg1334Gly)
|
|
|
|
NM_182961.4(SYNE1):c.4008+5G>T
|
rs1350714036
|
|
|
NM_182961.4(SYNE1):c.4063T>C (p.Tyr1355His)
|
|
|
|
NM_182961.4(SYNE1):c.4103G>C (p.Ser1368Thr)
|
rs998116525
|
|
|
NM_182961.4(SYNE1):c.4121G>A (p.Ser1374Asn)
|
rs1554707111
|
|
|
NM_182961.4(SYNE1):c.4156T>C (p.Ser1386Pro)
|
rs1554696981
|
|
|
NM_182961.4(SYNE1):c.4163G>A (p.Arg1388Gln)
|
|
|
|
NM_182961.4(SYNE1):c.4183C>A (p.Gln1395Lys)
|
rs2098471423
|
|
|
NM_182961.4(SYNE1):c.4220C>T (p.Pro1407Leu)
|
|
|
|
NM_182961.4(SYNE1):c.4292A>G (p.Glu1431Gly)
|
rs779044367
|
|
|
NM_182961.4(SYNE1):c.4298C>A (p.Thr1433Lys)
|
rs139798419
|
|
|
NM_182961.4(SYNE1):c.4313T>A (p.Ile1438Asn)
|
rs886044260
|
|
|
NM_182961.4(SYNE1):c.4373T>C (p.Leu1458Pro)
|
rs2154210873
|
|
|
NM_182961.4(SYNE1):c.4378G>C (p.Val1460Leu)
|
|
|
|
NM_182961.4(SYNE1):c.4378G>T (p.Val1460Phe)
|
|
|
|
NM_182961.4(SYNE1):c.4388C>G (p.Thr1463Ser)
|
rs2154210826
|
|
|
NM_182961.4(SYNE1):c.4411G>A (p.Ala1471Thr)
|
rs1350630909
|
|
|
NM_182961.4(SYNE1):c.4444C>G (p.Gln1482Glu)
|
|
|
|
NM_182961.4(SYNE1):c.4449C>G (p.Ile1483Met)
|
|
|
|
NM_182961.4(SYNE1):c.4462G>A (p.Val1488Ile)
|
rs2154201681
|
|
|
NM_182961.4(SYNE1):c.4523_4524insTCA (p.Ala1507_Gln1508insHis)
|
rs2098420279
|
|
|
NM_182961.4(SYNE1):c.4528T>C (p.Phe1510Leu)
|
rs1554687302
|
|
|
NM_182961.4(SYNE1):c.4535A>G (p.Gln1512Arg)
|
rs141597053
|
|
|
NM_182961.4(SYNE1):c.4603G>A (p.Glu1535Lys)
|
rs1209224800
|
|
|
NM_182961.4(SYNE1):c.4619C>A (p.Ala1540Glu)
|
rs1187109031
|
|
|
NM_182961.4(SYNE1):c.4625G>A (p.Cys1542Tyr)
|
rs1487588055
|
|
|
NM_182961.4(SYNE1):c.4659G>C (p.Gln1553His)
|
rs144533000
|
|
|
NM_182961.4(SYNE1):c.4676A>T (p.Glu1559Val)
|
rs1554686616
|
|
|
NM_182961.4(SYNE1):c.4680C>A (p.Asn1560Lys)
|
|
|
|
NM_182961.4(SYNE1):c.4695G>T (p.Gln1565His)
|
rs2154201077
|
|
|
NM_182961.4(SYNE1):c.4703T>C (p.Val1568Ala)
|
rs2154201070
|
|
|
NM_182961.4(SYNE1):c.4729G>C (p.Val1577Leu)
|
rs2098415660
|
|
|
NM_182961.4(SYNE1):c.4744T>A (p.Cys1582Ser)
|
rs1394715779
|
|
|
NM_182961.4(SYNE1):c.4756A>G (p.Thr1586Ala)
|
rs749571011
|
|
|
NM_182961.4(SYNE1):c.4765T>C (p.Tyr1589His)
|
|
|
|
NM_182961.4(SYNE1):c.4787T>A (p.Met1596Lys)
|
|
|
|
NM_182961.4(SYNE1):c.4789-3T>C
|
rs1228194784
|
|
|
NM_182961.4(SYNE1):c.4889C>G (p.Ala1630Gly)
|
rs566004273
|
|
|
NM_182961.4(SYNE1):c.4892C>T (p.Ala1631Val)
|
rs1268913905
|
|
|
NM_182961.4(SYNE1):c.4909G>C (p.Glu1637Gln)
|
|
|
|
NM_182961.4(SYNE1):c.4928C>G (p.Ala1643Gly)
|
|
|
|
NM_182961.4(SYNE1):c.4981G>A (p.Glu1661Lys)
|
rs2154197911
|
|
|
NM_182961.4(SYNE1):c.5018G>C (p.Arg1673Pro)
|
rs749115727
|
|
|
NM_182961.4(SYNE1):c.5026G>T (p.Ala1676Ser)
|
|
|
|
NM_182961.4(SYNE1):c.509G>T (p.Arg170Leu)
|
rs779239788
|
|
|
NM_182961.4(SYNE1):c.5105T>C (p.Leu1702Pro)
|
|
|
|
NM_182961.4(SYNE1):c.5138A>T (p.Tyr1713Phe)
|
rs2098338003
|
|
|
NM_182961.4(SYNE1):c.5146C>G (p.Leu1716Val)
|
rs202081505
|
|
|
NM_182961.4(SYNE1):c.514G>T (p.Val172Leu)
|
|
|
|
NM_182961.4(SYNE1):c.5163A>C (p.Glu1721Asp)
|
|
|
|
NM_182961.4(SYNE1):c.5165C>T (p.Ser1722Leu)
|
|
|
|
NM_182961.4(SYNE1):c.521C>G (p.Thr174Ser)
|
|
|
|
NM_182961.4(SYNE1):c.5260A>G (p.Asn1754Asp)
|
rs2154194638
|
|
|
NM_182961.4(SYNE1):c.5287G>A (p.Val1763Met)
|
|
|
|
NM_182961.4(SYNE1):c.5346A>G (p.Lys1782=)
|
rs2098221960
|
|
|
NM_182961.4(SYNE1):c.5414G>A (p.Arg1805Gln)
|
rs749200824
|
|
|
NM_182961.4(SYNE1):c.5461C>G (p.Gln1821Glu)
|
rs1289357494
|
|
|
NM_182961.4(SYNE1):c.5489T>G (p.Leu1830Trp)
|
rs763296949
|
|
|
NM_182961.4(SYNE1):c.5539G>A (p.Glu1847Lys)
|
rs778264930
|
|
|
NM_182961.4(SYNE1):c.554T>C (p.Leu185Ser)
|
|
|
|
NM_182961.4(SYNE1):c.5563_5564delinsAT (p.Glu1855Met)
|
rs2154182549
|
|
|
NM_182961.4(SYNE1):c.561G>T (p.Trp187Cys)
|
rs376693048
|
|
|
NM_182961.4(SYNE1):c.5658G>C (p.Gln1886His)
|
rs1305356670
|
|
|
NM_182961.4(SYNE1):c.5675A>G (p.Glu1892Gly)
|
rs757761843
|
|
|
NM_182961.4(SYNE1):c.5686A>C (p.Ser1896Arg)
|
rs989623011
|
|
|
NM_182961.4(SYNE1):c.5717A>G (p.Glu1906Gly)
|
rs2154182301
|
|
|
NM_182961.4(SYNE1):c.5734G>A (p.Ala1912Thr)
|
|
|
|
NM_182961.4(SYNE1):c.578G>A (p.Gly193Asp)
|
rs555846215
|
|
|
NM_182961.4(SYNE1):c.5798C>T (p.Ala1933Val)
|
rs2154182197
|
|
|
NM_182961.4(SYNE1):c.5809C>A (p.Leu1937Met)
|
rs1384241452
|
|
|
NM_182961.4(SYNE1):c.580A>G (p.Lys194Glu)
|
|
|
|
NM_182961.4(SYNE1):c.581+3A>T
|
|
|
|
NM_182961.4(SYNE1):c.581A>G (p.Lys194Arg)
|
rs2099078036
|
|
|
NM_182961.4(SYNE1):c.582-12T>C
|
|
|
|
NM_182961.4(SYNE1):c.5828A>G (p.Glu1943Gly)
|
rs963256304
|
|
|
NM_182961.4(SYNE1):c.5834G>A (p.Arg1945Lys)
|
|
|
|
NM_182961.4(SYNE1):c.5848G>A (p.Ala1950Thr)
|
|
|
|
NM_182961.4(SYNE1):c.5852C>T (p.Thr1951Met)
|
|
|
|
NM_182961.4(SYNE1):c.5951A>G (p.Gln1984Arg)
|
|
|
|
NM_182961.4(SYNE1):c.5965G>C (p.Glu1989Gln)
|
rs2098157118
|
|
|
NM_182961.4(SYNE1):c.5966A>G (p.Glu1989Gly)
|
rs762574786
|
|
|
NM_182961.4(SYNE1):c.5981T>C (p.Ile1994Thr)
|
|
|
|
NM_182961.4(SYNE1):c.5990T>C (p.Ile1997Thr)
|
|
|
|
NM_182961.4(SYNE1):c.6014G>A (p.Arg2005Gln)
|
|
|
|
NM_182961.4(SYNE1):c.6014G>T (p.Arg2005Leu)
|
|
|
|
NM_182961.4(SYNE1):c.6032G>C (p.Arg2011Pro)
|
rs1199419170
|
|
|
NM_182961.4(SYNE1):c.6037G>A (p.Ala2013Thr)
|
|
|
|
NM_182961.4(SYNE1):c.609T>G (p.Phe203Leu)
|
|
|
|
NM_182961.4(SYNE1):c.611G>A (p.Gly204Glu)
|
|
|
|
NM_182961.4(SYNE1):c.6145G>A (p.Asp2049Asn)
|
rs774941465
|
|
|
NM_182961.4(SYNE1):c.6157G>T (p.Ala2053Ser)
|
rs2154176994
|
|
|
NM_182961.4(SYNE1):c.6185G>A (p.Arg2062His)
|
|
|
|
NM_182961.4(SYNE1):c.6185G>T (p.Arg2062Leu)
|
rs542032376
|
|
|
NM_182961.4(SYNE1):c.6191A>G (p.Glu2064Gly)
|
|
|
|
NM_182961.4(SYNE1):c.6193G>C (p.Val2065Leu)
|
|
|
|
NM_182961.4(SYNE1):c.6199T>A (p.Trp2067Arg)
|
|
|
|
NM_182961.4(SYNE1):c.6201G>C (p.Trp2067Cys)
|
rs2154176931
|
|
|
NM_182961.4(SYNE1):c.6202G>A (p.Asp2068Asn)
|
|
|
|
NM_182961.4(SYNE1):c.6231T>G (p.Asn2077Lys)
|
rs2097980458
|
|
|
NM_182961.4(SYNE1):c.6275A>G (p.Gln2092Arg)
|
|
|
|
NM_182961.4(SYNE1):c.628G>A (p.Gly210Arg)
|
|
|
|
NM_182961.4(SYNE1):c.6292G>C (p.Val2098Leu)
|
|
|
|
NM_182961.4(SYNE1):c.6332C>T (p.Thr2111Ile)
|
rs760835706
|
|
|
NM_182961.4(SYNE1):c.6349G>A (p.Asp2117Asn)
|
|
|
|
NM_182961.4(SYNE1):c.6349G>T (p.Asp2117Tyr)
|
rs200640405
|
|
|
NM_182961.4(SYNE1):c.6358G>A (p.Asp2120Asn)
|
|
|
|
NM_182961.4(SYNE1):c.6370G>T (p.Ala2124Ser)
|
|
|
|
NM_182961.4(SYNE1):c.6398A>G (p.Asn2133Ser)
|
|
|
|
NM_182961.4(SYNE1):c.6415C>A (p.Gln2139Lys)
|
|
|
|
NM_182961.4(SYNE1):c.6421G>T (p.Asp2141Tyr)
|
|
|
|
NM_182961.4(SYNE1):c.6444A>C (p.Lys2148Asn)
|
|
|
|
NM_182961.4(SYNE1):c.6461C>T (p.Ser2154Phe)
|
|
|
|
NM_182961.4(SYNE1):c.6478C>T (p.His2160Tyr)
|
|
|
|
NM_182961.4(SYNE1):c.647T>C (p.Val216Ala)
|
rs1564513288
|
|
|
NM_182961.4(SYNE1):c.6482G>A (p.Ser2161Asn)
|
|
|
|
NM_182961.4(SYNE1):c.6526G>A (p.Asp2176Asn)
|
|
|
|
NM_182961.4(SYNE1):c.658A>C (p.Ile220Leu)
|
rs146053885
|
|
|
NM_182961.4(SYNE1):c.661C>A (p.Arg221=)
|
rs750266004
|
|
|
NM_182961.4(SYNE1):c.6636G>T (p.Trp2212Cys)
|
rs2154165420
|
|
|
NM_182961.4(SYNE1):c.6646T>A (p.Cys2216Ser)
|
|
|
|
NM_182961.4(SYNE1):c.664C>T (p.Pro222Ser)
|
rs2099051828
|
|
|
NM_182961.4(SYNE1):c.6658A>G (p.Met2220Val)
|
rs2097912504
|
|
|
NM_182961.4(SYNE1):c.665C>T (p.Pro222Leu)
|
|
|
|
NM_182961.4(SYNE1):c.6661G>A (p.Ala2221Thr)
|
rs2154165359
|
|
|
NM_182961.4(SYNE1):c.6680T>A (p.Leu2227Gln)
|
|
|
|
NM_182961.4(SYNE1):c.6719T>C (p.Phe2240Ser)
|
|
|
|
NM_182961.4(SYNE1):c.6738C>A (p.Asn2246Lys)
|
|
|
|
NM_182961.4(SYNE1):c.6811C>G (p.Pro2271Ala)
|
|
|
|
NM_182961.4(SYNE1):c.681G>T (p.Leu227Phe)
|
rs867285350
|
|
|
NM_182961.4(SYNE1):c.6895C>G (p.Leu2299Val)
|
|
|
|
NM_182961.4(SYNE1):c.6900G>T (p.Lys2300Asn)
|
|
|
|
NM_182961.4(SYNE1):c.6907A>G (p.Thr2303Ala)
|
|
|
|
NM_182961.4(SYNE1):c.6913C>A (p.Gln2305Lys)
|
|
|
|
NM_182961.4(SYNE1):c.6926T>C (p.Val2309Ala)
|
rs1384232957
|
|
|
NM_182961.4(SYNE1):c.6937A>G (p.Ile2313Val)
|
rs2154150998
|
|
|
NM_182961.4(SYNE1):c.6944A>G (p.Asp2315Gly)
|
rs1395736433
|
|
|
NM_182961.4(SYNE1):c.6959T>C (p.Phe2320Ser)
|
rs2097810439
|
|
|
NM_182961.4(SYNE1):c.6975A>T (p.Glu2325Asp)
|
|
|
|
NM_182961.4(SYNE1):c.6982A>G (p.Met2328Val)
|
rs1250755900
|
|
|
NM_182961.4(SYNE1):c.6983T>C (p.Met2328Thr)
|
rs1317403604
|
|
|
NM_182961.4(SYNE1):c.69T>A (p.Asp23Glu)
|
rs1564735123
|
|
|
NM_182961.4(SYNE1):c.7023A>T (p.Lys2341Asn)
|
|
|
|
NM_182961.4(SYNE1):c.707G>A (p.Arg236Gln)
|
|
|
|
NM_182961.4(SYNE1):c.7091A>G (p.Asn2364Ser)
|
rs776339735
|
|
|
NM_182961.4(SYNE1):c.7109A>G (p.Tyr2370Cys)
|
|
|
|
NM_182961.4(SYNE1):c.7141G>T (p.Ala2381Ser)
|
rs766789322
|
|
|
NM_182961.4(SYNE1):c.7156A>T (p.Ile2386Leu)
|
|
|
|
NM_182961.4(SYNE1):c.7165C>T (p.His2389Tyr)
|
|
|
|
NM_182961.4(SYNE1):c.7181A>C (p.Gln2394Pro)
|
rs1244195756
|
|
|
NM_182961.4(SYNE1):c.7201G>A (p.Ala2401Thr)
|
rs780924006
|
|
|
NM_182961.4(SYNE1):c.7261T>C (p.Trp2421Arg)
|
|
|
|
NM_182961.4(SYNE1):c.7280C>T (p.Ala2427Val)
|
rs2097770762
|
|
|
NM_182961.4(SYNE1):c.7303C>G (p.Arg2435Gly)
|
rs370082646
|
|
|
NM_182961.4(SYNE1):c.7312G>T (p.Asp2438Tyr)
|
|
|
|
NM_182961.4(SYNE1):c.7334A>C (p.Lys2445Thr)
|
rs2154145830
|
|
|
NM_182961.4(SYNE1):c.7335G>C (p.Lys2445Asn)
|
rs770329883
|
|
|
NM_182961.4(SYNE1):c.7345C>T (p.Leu2449Phe)
|
rs757562714
|
|
|
NM_182961.4(SYNE1):c.7392T>G (p.Asp2464Glu)
|
|
|
|
NM_182961.4(SYNE1):c.739G>A (p.Glu247Lys)
|
|
|
|
NM_182961.4(SYNE1):c.7402C>G (p.Gln2468Glu)
|
rs1384323646
|
|
|
NM_182961.4(SYNE1):c.7406A>G (p.Glu2469Gly)
|
rs371796151
|
|
|
NM_182961.4(SYNE1):c.742A>G (p.Thr248Ala)
|
rs2154331462
|
|
|
NM_182961.4(SYNE1):c.7462C>G (p.Gln2488Glu)
|
rs756083446
|
|
|
NM_182961.4(SYNE1):c.7502A>C (p.Lys2501Thr)
|
|
|
|
NM_182961.4(SYNE1):c.7550T>A (p.Leu2517His)
|
|
|
|
NM_182961.4(SYNE1):c.7619C>T (p.Thr2540Met)
|
rs550027519
|
|
|
NM_182961.4(SYNE1):c.7644G>C (p.Gln2548His)
|
rs2097719630
|
|
|
NM_182961.4(SYNE1):c.7666G>A (p.Glu2556Lys)
|
rs2154141021
|
|
|
NM_182961.4(SYNE1):c.7672C>A (p.His2558Asn)
|
rs2097719253
|
|
|
NM_182961.4(SYNE1):c.7685T>C (p.Met2562Thr)
|
|
|
|
NM_182961.4(SYNE1):c.7709C>G (p.Ala2570Gly)
|
|
|
|
NM_182961.4(SYNE1):c.7724A>T (p.Asp2575Val)
|
rs1382595953
|
|
|
NM_182961.4(SYNE1):c.7754G>C (p.Ser2585Thr)
|
|
|
|
NM_182961.4(SYNE1):c.7778A>T (p.Gln2593Leu)
|
rs761902124
|
|
|
NM_182961.4(SYNE1):c.7781A>G (p.Glu2594Gly)
|
rs1591742558
|
|
|
NM_182961.4(SYNE1):c.7801C>G (p.Leu2601Val)
|
|
|
|
NM_182961.4(SYNE1):c.7814A>G (p.His2605Arg)
|
rs2097627280
|
|
|
NM_182961.4(SYNE1):c.7853G>A (p.Ser2618Asn)
|
|
|
|
NM_182961.4(SYNE1):c.7858C>A (p.Gln2620Lys)
|
|
|
|
NM_182961.4(SYNE1):c.7870C>G (p.Gln2624Glu)
|
|
|
|
NM_182961.4(SYNE1):c.7878C>A (p.His2626Gln)
|
|
|
|
NM_182961.4(SYNE1):c.7885C>G (p.Leu2629Val)
|
|
|
|
NM_182961.4(SYNE1):c.7946G>C (p.Cys2649Ser)
|
|
|
|
NM_182961.4(SYNE1):c.7951G>A (p.Glu2651Lys)
|
rs147040672
|
|
|
NM_182961.4(SYNE1):c.7988G>A (p.Arg2663Gln)
|
rs370644295
|
|
|
NM_182961.4(SYNE1):c.7996C>A (p.Gln2666Lys)
|
rs577888458
|
|
|
NM_182961.4(SYNE1):c.8003A>G (p.Gln2668Arg)
|
rs2154133685
|
|
|
NM_182961.4(SYNE1):c.8005-7_8005-6insA
|
|
|
|
NM_182961.4(SYNE1):c.8014C>G (p.Leu2672Val)
|
rs1563634104
|
|
|
NM_182961.4(SYNE1):c.8051C>T (p.Ala2684Val)
|
|
|
|
NM_182961.4(SYNE1):c.8063G>A (p.Gly2688Glu)
|
|
|
|
NM_182961.4(SYNE1):c.8065G>C (p.Glu2689Gln)
|
|
|
|
NM_182961.4(SYNE1):c.8069A>C (p.Gln2690Pro)
|
rs1591716331
|
|
|
NM_182961.4(SYNE1):c.8098C>G (p.Gln2700Glu)
|
rs2097590125
|
|
|
NM_182961.4(SYNE1):c.8147A>G (p.Asp2716Gly)
|
|
|
|
NM_182961.4(SYNE1):c.8151C>G (p.Ile2717Met)
|
|
|
|
NM_182961.4(SYNE1):c.8152A>G (p.Met2718Val)
|
rs765054617
|
|
|
NM_182961.4(SYNE1):c.8204G>T (p.Trp2735Leu)
|
|
|
|
NM_182961.4(SYNE1):c.8210A>G (p.Asp2737Gly)
|
rs886044469
|
|
|
NM_182961.4(SYNE1):c.821A>G (p.Tyr274Cys)
|
rs2099036274
|
|
|
NM_182961.4(SYNE1):c.8248G>A (p.Glu2750Lys)
|
|
|
|
NM_182961.4(SYNE1):c.8276C>T (p.Pro2759Leu)
|
rs1438857220
|
|
|
NM_182961.4(SYNE1):c.8285C>A (p.Pro2762Gln)
|
|
|
|
NM_182961.4(SYNE1):c.8325C>A (p.His2775Gln)
|
rs770073509
|
|
|
NM_182961.4(SYNE1):c.832T>A (p.Phe278Ile)
|
|
|
|
NM_182961.4(SYNE1):c.8360C>G (p.Thr2787Arg)
|
|
|
|
NM_182961.4(SYNE1):c.8389T>G (p.Ser2797Ala)
|
|
|
|
NM_182961.4(SYNE1):c.83T>G (p.Val28Gly)
|
rs1554878579
|
|
|
NM_182961.4(SYNE1):c.8470A>T (p.Ile2824Leu)
|
|
|
|
NM_182961.4(SYNE1):c.8487+6T>C
|
rs2097536510
|
|
|
NM_182961.4(SYNE1):c.8531T>A (p.Met2844Lys)
|
rs577620830
|
|
|
NM_182961.4(SYNE1):c.8543C>T (p.Ala2848Val)
|
|
|
|
NM_182961.4(SYNE1):c.8555T>A (p.Phe2852Tyr)
|
|
|
|
NM_182961.4(SYNE1):c.8570A>G (p.His2857Arg)
|
|
|
|
NM_182961.4(SYNE1):c.8593C>G (p.Arg2865Gly)
|
rs757720748
|
|
|
NM_182961.4(SYNE1):c.8594G>A (p.Arg2865Gln)
|
|
|
|
NM_182961.4(SYNE1):c.8609C>T (p.Ser2870Phe)
|
rs2097516831
|
|
|
NM_182961.4(SYNE1):c.8652+3C>T
|
|
|
|
NM_182961.4(SYNE1):c.8657T>A (p.Leu2886Gln)
|
|
|
|
NM_182961.4(SYNE1):c.8663A>T (p.Asp2888Val)
|
rs1184722528
|
|
|
NM_182961.4(SYNE1):c.8701G>A (p.Glu2901Lys)
|
|
|
|
NM_182961.4(SYNE1):c.8705C>G (p.Ser2902Trp)
|
rs576979843
|
|
|
NM_182961.4(SYNE1):c.8719G>T (p.Val2907Leu)
|
|
|
|
NM_182961.4(SYNE1):c.8773G>T (p.Ala2925Ser)
|
|
|
|
NM_182961.4(SYNE1):c.8779C>G (p.Arg2927Gly)
|
rs372633466
|
|
|
NM_182961.4(SYNE1):c.8779C>T (p.Arg2927Cys)
|
rs372633466
|
|
|
NM_182961.4(SYNE1):c.8819C>T (p.Thr2940Met)
|
|
|
|
NM_182961.4(SYNE1):c.8825G>C (p.Ser2942Thr)
|
rs2154115485
|
|
|
NM_182961.4(SYNE1):c.888+4G>A
|
rs749258298
|
|
|
NM_182961.4(SYNE1):c.8884G>C (p.Val2962Leu)
|
rs2097406538
|
|
|
NM_182961.4(SYNE1):c.8888C>A (p.Ala2963Asp)
|
rs570962334
|
|
|
NM_182961.4(SYNE1):c.8914T>A (p.Phe2972Ile)
|
|
|
|
NM_182961.4(SYNE1):c.892A>G (p.Ile298Val)
|
rs2154319036
|
|
|
NM_182961.4(SYNE1):c.8957T>C (p.Leu2986Pro)
|
|
|
|
NM_182961.4(SYNE1):c.8983A>T (p.Ile2995Leu)
|
|
|
|
NM_182961.4(SYNE1):c.898C>T (p.Pro300Ser)
|
|
|
|
NM_182961.4(SYNE1):c.9009+5G>T
|
rs1252397404
|
|
|
NM_182961.4(SYNE1):c.9016C>G (p.Leu3006Val)
|
|
|
|
NM_182961.4(SYNE1):c.9052G>T (p.Asp3018Tyr)
|
rs910446340
|
|
|
NM_182961.4(SYNE1):c.9082C>A (p.Arg3028=)
|
rs369163343
|
|
|
NM_182961.4(SYNE1):c.9083G>A (p.Arg3028Gln)
|
|
|
|
NM_182961.4(SYNE1):c.9124G>A (p.Gly3042Ser)
|
rs1554580101
|
|
|
NM_182961.4(SYNE1):c.9160G>A (p.Ala3054Thr)
|
rs2154103548
|
|
|
NM_182961.4(SYNE1):c.916G>A (p.Ala306Thr)
|
|
|
|
NM_182961.4(SYNE1):c.9170G>T (p.Gly3057Val)
|
rs761071366
|
|
|
NM_182961.4(SYNE1):c.9178A>G (p.Asn3060Asp)
|
|
|
|
NM_182961.4(SYNE1):c.9209G>A (p.Arg3070Gln)
|
|
|
|
NM_182961.4(SYNE1):c.9214G>A (p.Ala3072Thr)
|
|
|
|
NM_182961.4(SYNE1):c.9250A>G (p.Lys3084Glu)
|
rs1391282600
|
|
|
NM_182961.4(SYNE1):c.9289A>G (p.Ile3097Val)
|
rs2154103329
|
|
|
NM_182961.4(SYNE1):c.9304A>C (p.Thr3102Pro)
|
|
|
|
NM_182961.4(SYNE1):c.9333G>T (p.Leu3111Phe)
|
|
|
|
NM_182961.4(SYNE1):c.9337G>C (p.Glu3113Gln)
|
rs2154097171
|
|
|
NM_182961.4(SYNE1):c.9347A>T (p.Asn3116Ile)
|
|
|
|
NM_182961.4(SYNE1):c.9374T>C (p.Leu3125Pro)
|
rs1563477104
|
|
|
NM_182961.4(SYNE1):c.9382G>A (p.Gly3128Arg)
|
|
|
|
NM_182961.4(SYNE1):c.9389T>A (p.Leu3130His)
|
|
|
|
NM_182961.4(SYNE1):c.9394A>T (p.Ser3132Cys)
|
rs138481762
|
|
|
NM_182961.4(SYNE1):c.941G>T (p.Arg314Ile)
|
rs1554795128
|
|
|
NM_182961.4(SYNE1):c.9449C>G (p.Ala3150Gly)
|
|
|
|
NM_182961.4(SYNE1):c.9469T>C (p.Phe3157Leu)
|
|
|
|
NM_182961.4(SYNE1):c.946G>A (p.Asp316Asn)
|
rs369574011
|
|
|
NM_182961.4(SYNE1):c.9484C>T (p.His3162Tyr)
|
|
|
|
NM_182961.4(SYNE1):c.9494_9495delinsTG (p.Glu3165Val)
|
|
|
|
NM_182961.4(SYNE1):c.9495A>C (p.Glu3165Asp)
|
rs6913579
|
|
|
NM_182961.4(SYNE1):c.9514A>G (p.Lys3172Glu)
|
rs2154085901
|
|
|
NM_182961.4(SYNE1):c.9524T>C (p.Met3175Thr)
|
|
|
|
NM_182961.4(SYNE1):c.9543T>G (p.Ser3181Arg)
|
|
|
|
NM_182961.4(SYNE1):c.9544_9545delinsAA (p.Ala3182Asn)
|
rs1057519421
|
|
|
NM_182961.4(SYNE1):c.955A>G (p.Ile319Val)
|
|
|
|
NM_182961.4(SYNE1):c.9572A>T (p.Lys3191Ile)
|
rs1563437567
|
|
|
NM_182961.4(SYNE1):c.9586G>A (p.Val3196Ile)
|
|
|
|
NM_182961.4(SYNE1):c.9596G>T (p.Ser3199Ile)
|
rs768692140
|
|
|
NM_182961.4(SYNE1):c.9634G>A (p.Glu3212Lys)
|
|
|
|
NM_182961.4(SYNE1):c.9634G>C (p.Glu3212Gln)
|
rs751257864
|
|
|
NM_182961.4(SYNE1):c.9649C>A (p.Gln3217Lys)
|
rs2154085638
|
|
|
NM_182961.4(SYNE1):c.9670C>G (p.His3224Asp)
|
|
|
|
NM_182961.4(SYNE1):c.9676T>C (p.Tyr3226His)
|
|
|
|
NM_182961.4(SYNE1):c.9682C>T (p.Pro3228Ser)
|
rs1563432555
|
|
|
NM_182961.4(SYNE1):c.9695G>A (p.Arg3232Lys)
|
|
|
|
NM_182961.4(SYNE1):c.9733G>T (p.Ala3245Ser)
|
rs753548717
|
|
|
NM_182961.4(SYNE1):c.9746G>A (p.Ser3249Asn)
|
rs886061206
|
|
|
NM_182961.4(SYNE1):c.9847A>T (p.Asn3283Tyr)
|
rs745707616
|
|
|
NM_182961.4(SYNE1):c.9925C>A (p.Pro3309Thr)
|
rs1247321590
|
|
|
NM_182961.4(SYNE1):c.998A>G (p.Asp333Gly)
|
rs2154300492
|
|
|
NM_213569.2(NEBL):c.358-4751_358-4740del
|
rs2130816665
|
|
|
Single allele
|
|
|