NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln)
|
rs34324426
|
0.00294
|
NM_021870.3(FGG):c.323C>G (p.Ala108Gly)
|
rs148685782
|
0.00222
|
NM_001354604.2(MITF):c.1273G>A (p.Glu425Lys)
|
rs149617956
|
0.00160
|
NM_007254.4(PNKP):c.1029+2T>C
|
rs199919568
|
0.00115
|
NM_004130.4(GYG1):c.304G>C (p.Asp102His)
|
rs143137713
|
0.00109
|
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg)
|
rs121918054
|
0.00096
|
NM_000488.4(SERPINC1):c.218C>T (p.Pro73Leu)
|
rs121909551
|
0.00092
|
NM_005609.4(PYGM):c.1094C>T (p.Ala365Val)
|
rs116135678
|
0.00074
|
NM_001243279.3(ACSF3):c.1075G>A (p.Glu359Lys)
|
rs150487794
|
0.00071
|
NM_001039141.3(TRIOBP):c.5014G>T (p.Gly1672Ter)
|
rs200045032
|
0.00054
|
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu)
|
rs140455771
|
0.00041
|
NM_019616.4(F7):c.995C>T (p.Ala332Val)
|
rs36209567
|
0.00038
|
NM_000463.3(UGT1A1):c.674T>G (p.Val225Gly)
|
rs35003977
|
0.00034
|
NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala)
|
rs140522266
|
0.00034
|
NM_014053.4(FLVCR1):c.1092+5G>A
|
rs556788423
|
0.00032
|
NM_001953.5(TYMP):c.622G>A (p.Val208Met)
|
rs121913039
|
0.00027
|
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe)
|
rs137853011
|
0.00026
|
NM_015340.4(LARS2):c.1565C>A (p.Thr522Asn)
|
rs199589947
|
0.00025
|
NM_080916.3(DGUOK):c.462T>A (p.Asn154Lys)
|
rs144181978
|
0.00021
|
NM_000488.4(SERPINC1):c.236G>A (p.Arg79His)
|
rs121909552
|
0.00018
|
NM_000392.5(ABCC2):c.3258+1G>A
|
rs762243203
|
0.00017
|
NM_001177316.2(SLC34A3):c.448+1G>A
|
rs150841256
|
0.00017
|
NM_000492.4(CFTR):c.1853T>C (p.Ile618Thr)
|
rs139468767
|
0.00016
|
NM_213599.3(ANO5):c.172C>T (p.Arg58Trp)
|
rs201725369
|
0.00016
|
NM_015506.3(MMACHC):c.389A>G (p.Tyr130Cys)
|
rs200094982
|
0.00014
|
NM_000071.3(CBS):c.146C>T (p.Pro49Leu)
|
rs148865119
|
0.00013
|
NM_138477.2(CDAN1):c.2015C>T (p.Pro672Leu)
|
rs120074167
|
0.00013
|
NM_012452.3(TNFRSF13B):c.512T>G (p.Leu171Arg)
|
rs143027621
|
0.00012
|
NM_001079866.2(BCS1L):c.550C>T (p.Arg184Cys)
|
rs121908578
|
0.00011
|
NM_002693.3(POLG):c.3139C>T (p.Arg1047Trp)
|
rs181860632
|
0.00010
|
NM_000492.4(CFTR):c.2657+2_2657+3insA
|
rs397508414
|
0.00009
|
NM_138477.4(CDAN1):c.156C>G (p.Phe52Leu)
|
rs80338694
|
0.00009
|
NM_016239.4(MYO15A):c.4777G>A (p.Glu1593Lys)
|
rs376469502
|
0.00008
|
NM_138477.4(CDAN1):c.2140C>T (p.Arg714Trp)
|
rs80338696
|
0.00008
|
NM_001349206.2(LPIN1):c.1807-2A>G
|
rs533651991
|
0.00007
|
NM_000128.4(F11):c.1288G>A (p.Ala430Thr)
|
rs753909969
|
0.00006
|
NM_000152.5(GAA):c.1124G>A (p.Arg375His)
|
rs142752477
|
0.00006
|
NM_000190.4(HMBS):c.500G>A (p.Arg167Gln)
|
rs118204095
|
0.00006
|
NM_000404.4(GLB1):c.464T>G (p.Leu155Arg)
|
rs376710410
|
0.00006
|
NM_153700.2(STRC):c.4219-1G>A
|
rs748854592
|
0.00006
|
NM_000175.5(GPI):c.671C>T (p.Thr224Met)
|
rs61754634
|
0.00005
|
NM_000374.5(UROD):c.199G>T (p.Glu67Ter)
|
rs763086647
|
0.00005
|
NM_001292063.2(OTOG):c.3664C>T (p.Arg1222Ter)
|
rs560339163
|
0.00005
|
NM_004168.4(SDHA):c.1534C>T (p.Arg512Ter)
|
rs748089700
|
0.00005
|
NM_138477.4(CDAN1):c.3389C>T (p.Pro1130Leu)
|
rs80338699
|
0.00005
|
NM_138694.4(PKHD1):c.9530T>C (p.Ile3177Thr)
|
rs200511261
|
0.00005
|
NM_000053.4(ATP7B):c.3443T>C (p.Ile1148Thr)
|
rs60431989
|
0.00004
|
NM_000092.5(COL4A4):c.2320G>C (p.Gly774Arg)
|
rs569681869
|
0.00004
|
NM_000190.4(HMBS):c.601C>T (p.Arg201Trp)
|
rs118204109
|
0.00004
|
NM_000431.4(MVK):c.608T>C (p.Val203Ala)
|
rs104895332
|
0.00004
|
NM_000435.3(NOTCH3):c.1732C>T (p.Arg578Cys)
|
rs769773673
|
0.00004
|
NM_001130987.2(DYSF):c.853C>T (p.Arg285Trp)
|
rs149827237
|
0.00004
|
NM_032581.4(HYCC1):c.125dup (p.Tyr42Ter)
|
rs780540757
|
0.00004
|
NM_138694.4(PKHD1):c.2414C>T (p.Pro805Leu)
|
rs199531851
|
0.00004
|
NM_000053.4(ATP7B):c.3121C>T (p.Arg1041Trp)
|
rs746485916
|
0.00003
|
NM_000182.5(HADHA):c.1793_1794del (p.His598fs)
|
rs769580842
|
0.00003
|
NM_000199.5(SGSH):c.1139A>G (p.Gln380Arg)
|
rs144143780
|
0.00003
|
NM_000492.4(CFTR):c.3468G>A (p.Leu1156=)
|
rs139729994
|
0.00003
|
NM_000527.5(LDLR):c.1474G>C (p.Asp492His)
|
rs373646964
|
0.00003
|
NM_001114753.3(ENG):c.1134G>A (p.Ala378=)
|
rs1329127701
|
0.00003
|
NM_000057.4(BLM):c.3439A>T (p.Lys1147Ter)
|
rs770311534
|
0.00002
|
NM_000091.5(COL4A3):c.898G>A (p.Gly300Arg)
|
rs772708743
|
0.00002
|
NM_000179.3(MSH6):c.10C>T (p.Gln4Ter)
|
rs786201042
|
0.00002
|
NM_000186.4(CFH):c.1873G>T (p.Glu625Ter)
|
rs150694809
|
0.00002
|
NM_001355436.2(SPTB):c.4291C>T (p.Arg1431Ter)
|
rs757836263
|
0.00002
|
NM_006005.3(WFS1):c.2002C>T (p.Gln668Ter)
|
rs1335308693
|
0.00002
|
NM_000030.3(AGXT):c.116_117dup (p.Ala40fs)
|
rs180177166
|
0.00001
|
NM_000037.4(ANK1):c.5497C>T (p.Arg1833Ter)
|
rs137852831
|
0.00001
|
NM_000053.4(ATP7B):c.3107dup (p.Arg1038fs)
|
rs886043423
|
0.00001
|
NM_000053.4(ATP7B):c.3140A>T (p.Asp1047Val)
|
rs1395504465
|
0.00001
|
NM_000053.4(ATP7B):c.51+4A>T
|
rs369488210
|
0.00001
|
NM_000080.4(CHRNE):c.1033-1G>C
|
rs755303686
|
0.00001
|
NM_000082.4(ERCC8):c.479C>T (p.Ala160Val)
|
rs121434325
|
0.00001
|
NM_000089.4(COL1A2):c.2701G>A (p.Gly901Ser)
|
rs72659306
|
0.00001
|
NM_000128.4(F11):c.595+3A>G
|
rs933333847
|
0.00001
|
NM_000155.4(GALT):c.265T>G (p.Tyr89Asp)
|
rs111033666
|
0.00001
|
NM_000155.4(GALT):c.772C>T (p.Arg258Cys)
|
rs368166217
|
0.00001
|
NM_000157.4(GBA1):c.701G>A (p.Gly234Glu)
|
rs74462743
|
0.00001
|
NM_000218.3(KCNQ1):c.1085A>G (p.Lys362Arg)
|
rs12720458
|
0.00001
|
NM_000249.4(MLH1):c.207+1G>A
|
rs267607718
|
0.00001
|
NM_000257.4(MYH7):c.1491G>T (p.Glu497Asp)
|
rs267606911
|
0.00001
|
NM_000271.5(NPC1):c.2819C>T (p.Ser940Leu)
|
rs143124972
|
0.00001
|
NM_000298.6(PKLR):c.307del (p.Arg103fs)
|
rs1433205059
|
0.00001
|
NM_000303.3(PMM2):c.53C>G (p.Thr18Ser)
|
rs760265100
|
0.00001
|
NM_000335.5(SCN5A):c.5126C>T (p.Ser1709Leu)
|
rs137854604
|
0.00001
|
NM_000363.5(TNNI3):c.497C>T (p.Ser166Phe)
|
rs727504242
|
0.00001
|
NM_000374.5(UROD):c.424C>T (p.Arg142Ter)
|
rs780227281
|
0.00001
|
NM_000435.3(NOTCH3):c.3062A>G (p.Tyr1021Cys)
|
rs1167405466
|
0.00001
|
NM_000454.5(SOD1):c.449T>C (p.Ile150Thr)
|
rs1424014997
|
0.00001
|
NM_000527.5(LDLR):c.1329G>C (p.Trp443Cys)
|
rs879254867
|
0.00001
|
NM_000527.5(LDLR):c.1414G>T (p.Asp472Tyr)
|
rs730882102
|
0.00001
|
NM_000527.5(LDLR):c.1784G>A (p.Arg595Gln)
|
rs201102492
|
0.00001
|
NM_001114753.3(ENG):c.1309C>T (p.Arg437Trp)
|
rs1434169817
|
0.00001
|
NM_001122764.3(PPOX):c.1303C>T (p.Gln435Ter)
|
rs754313121
|
0.00001
|
NM_002055.5(GFAP):c.1154C>G (p.Ser385Cys)
|
rs797044590
|
0.00001
|
NM_003000.3(SDHB):c.689G>A (p.Arg230His)
|
rs587782604
|
0.00001
|
NM_003742.4(ABCB11):c.22C>T (p.Arg8Ter)
|
rs886043986
|
0.00001
|
NM_014141.6(CNTNAP2):c.3283C>T (p.Arg1095Ter)
|
rs771533907
|
0.00001
|
NM_020975.6(RET):c.1996A>G (p.Lys666Glu)
|
rs143795581
|
0.00001
|
NM_024306.5(FA2H):c.589C>T (p.Arg197Ter)
|
rs1463651673
|
0.00001
|
NM_024577.4(SH3TC2):c.2642A>G (p.Asn881Ser)
|
rs80338930
|
0.00001
|
NM_138413.4(HOGA1):c.123del (p.Pro41_Val42insTer)
|
rs1419840309
|
0.00001
|
NM_144997.7(FLCN):c.1522_1524del (p.Lys508del)
|
rs398124529
|
0.00001
|
NM_000020.3(ACVRL1):c.1048+1G>A
|
rs2139074368
|
|
NM_000020.3(ACVRL1):c.1415G>A (p.Trp472Ter)
|
rs1555154144
|
|
NM_000020.3(ACVRL1):c.546C>A (p.Cys182Ter)
|
rs2139068677
|
|
NM_000020.3(ACVRL1):c.626-3C>G
|
rs1555152899
|
|
NM_000020.3(ACVRL1):c.698C>T (p.Ser233Leu)
|
rs762773076
|
|
NM_000037.4(ANK1):c.1801-17G>A
|
rs786205243
|
|
NM_000037.4(ANK1):c.409C>T (p.Gln137Ter)
|
rs2150661792
|
|
NM_000038.6(APC):c.1229dup (p.Leu410fs)
|
rs863225308
|
|
NM_000038.6(APC):c.1626+1G>A
|
rs1554081934
|
|
NM_000038.6(APC):c.1866C>A (p.Tyr622Ter)
|
rs876658355
|
|
NM_000038.6(APC):c.220+2T>A
|
rs587781809
|
|
NM_000038.6(APC):c.3815C>G (p.Ser1272Ter)
|
rs863225348
|
|
NM_000038.6(APC):c.475dup (p.Tyr159fs)
|
rs863225361
|
|
NM_000038.6(APC):c.5145del (p.Asp1715fs)
|
rs863225363
|
|
NM_000038.6(APC):c.5804dup (p.Ser1936fs)
|
rs863225367
|
|
NM_000038.6(APC):c.7511G>A (p.Trp2504Ter)
|
rs755046558
|
|
NM_000038.6(APC):c.935dup (p.Glu313fs)
|
rs587781451
|
|
NM_000051.4(ATM):c.4741dup (p.Ile1581fs)
|
rs864622164
|
|
NM_000051.4(ATM):c.8395_8404del (p.Phe2799fs)
|
rs786202800
|
|
NM_000053.4(ATP7B):c.3529C>T (p.Gln1177Ter)
|
rs1057516479
|
|
NM_000053.4(ATP7B):c.3664G>A (p.Asp1222Asn)
|
rs2138663905
|
|
NM_000053.4(ATP7B):c.778dup (p.Gln260fs)
|
rs786204570
|
|
NM_000059.4(BRCA2):c.7964A>G (p.Gln2655Arg)
|
rs80359024
|
|
NM_000059.4(BRCA2):c.8488-1G>A
|
rs397507404
|
|
NM_000059.4(BRCA2):c.9004G>A (p.Glu3002Lys)
|
rs80359152
|
|
NM_000088.4(COL1A1):c.976G>C (p.Gly326Arg)
|
rs72645355
|
|
NM_000133.4(F9):c.1328T>C (p.Ile443Thr)
|
rs137852268
|
|
NM_000138.5(FBN1):c.7540G>A (p.Gly2514Arg)
|
rs363811
|
|
NM_000143.4(FH):c.668_669del (p.Lys223fs)
|
rs886039364
|
|
NM_000153.4(GALC):c.293dup (p.Leu98fs)
|
rs757799254
|
|
NM_000179.3(MSH6):c.1135_1139del (p.Arg378_Arg379insTer)
|
rs267608077
|
|
NM_000179.3(MSH6):c.1168_1170delinsAA (p.Asp390fs)
|
rs863225398
|
|
NM_000179.3(MSH6):c.1352del (p.Phe451fs)
|
rs869312769
|
|
NM_000179.3(MSH6):c.1483C>T (p.Arg495Ter)
|
rs587779212
|
|
NM_000179.3(MSH6):c.2061T>A (p.Cys687Ter)
|
rs267608068
|
|
NM_000179.3(MSH6):c.2932C>T (p.Gln978Ter)
|
rs587781372
|
|
NM_000179.3(MSH6):c.3037_3041del (p.Lys1013fs)
|
rs587782712
|
|
NM_000179.3(MSH6):c.3108_3109del (p.Phe1037fs)
|
rs1553414519
|
|
NM_000179.3(MSH6):c.3173-1G>C
|
rs397515875
|
|
NM_000179.3(MSH6):c.3476dup (p.Tyr1159Ter)
|
rs587782111
|
|
NM_000179.3(MSH6):c.3528_3532del (p.Leu1177fs)
|
rs863225408
|
|
NM_000179.3(MSH6):c.3716_3717del (p.Ile1239fs)
|
rs1064794384
|
|
NM_000179.3(MSH6):c.3799_3800del (p.Met1267fs)
|
rs267608114
|
|
NM_000179.3(MSH6):c.3980_3983dup (p.Leu1330fs)
|
rs1553333738
|
|
NM_000179.3(MSH6):c.3991C>T (p.Arg1331Ter)
|
rs267608094
|
|
NM_000186.4(CFH):c.694C>T (p.Arg232Ter)
|
rs755790570
|
|
NM_000190.4(HMBS):c.866_869del (p.Asp289fs)
|
|
|
NM_000190.4(HMBS):c.940_941del (p.Gln314fs)
|
rs1407093112
|
|
NM_000214.3(JAG1):c.2682+1G>T
|
rs1568792238
|
|
NM_000218.3(KCNQ1):c.1046C>G (p.Ser349Trp)
|
rs199472765
|
|
NM_000218.3(KCNQ1):c.1702G>A (p.Gly568Arg)
|
rs199472807
|
|
NM_000238.4(KCNH2):c.209A>G (p.His70Arg)
|
rs199473419
|
|
NM_000238.4(KCNH2):c.214C>T (p.Pro72Ser)
|
rs794728411
|
|
NM_000249.4(MLH1):c.2252_2253del (p.Lys751fs)
|
rs267607901
|
|
NM_000249.4(MLH1):c.583A>T (p.Lys195Ter)
|
rs863225383
|
|
NM_000251.3(MSH2):c.1237C>T (p.Gln413Ter)
|
rs863225387
|
|
NM_000251.3(MSH2):c.1276+2T>C
|
rs267607953
|
|
NM_000251.3(MSH2):c.1759+1G>A
|
rs587779108
|
|
NM_000251.3(MSH2):c.1911del (p.Arg638fs)
|
rs63750893
|
|
NM_000251.3(MSH2):c.1982_1985del (p.Lys661fs)
|
rs587779120
|
|
NM_000251.3(MSH2):c.20del (p.Glu7fs)
|
rs267607915
|
|
NM_000251.3(MSH2):c.2502_2508del (p.Asn835fs)
|
rs63751447
|
|
NM_000251.3(MSH2):c.528_529del (p.Cys176_Glu177delinsTer)
|
rs587779164
|
|
NM_000251.3(MSH2):c.871del (p.Glu290_Leu291insTer)
|
rs1064794809
|
|
NM_000256.3(MYBPC3):c.1791-1G>A
|
rs2142859427
|
|
NM_000256.3(MYBPC3):c.2995-1G>A
|
rs730880584
|
|
NM_000257.4(MYH7):c.1063G>A (p.Ala355Thr)
|
rs397516088
|
|
NM_000293.3(PHKB):c.2457del (p.Glu820fs)
|
rs1322527832
|
|
NM_000298.6(PKLR):c.993C>A (p.Asp331Glu)
|
rs138476691
|
|
NM_000312.4(PROC):c.1212dup (p.Pro405fs)
|
rs1333329860
|
|
NM_000314.8(PTEN):c.39_40del (p.Arg14fs)
|
rs587776671
|
|
NM_000334.4(SCN4A):c.2095G>A (p.Ala699Thr)
|
rs1057518865
|
|
NM_000342.3(SLC4A1):c.2608C>T (p.Arg870Trp)
|
rs28931585
|
|
NM_000342.4(SLC4A1):c.1030C>T (p.Arg344Ter)
|
rs750930293
|
|
NM_000342.4(SLC4A1):c.1561C>T (p.Gln521Ter)
|
rs2144612096
|
|
NM_000342.4(SLC4A1):c.202G>T (p.Glu68Ter)
|
rs13306787
|
|
NM_000342.4(SLC4A1):c.2169G>A (p.Trp723Ter)
|
rs2047358814
|
|
NM_000342.4(SLC4A1):c.2510C>T (p.Thr837Met)
|
rs2047337144
|
|
NM_000377.3(WAS):c.244T>C (p.Ser82Pro)
|
rs132630272
|
|
NM_000382.3(ALDH3A2):c.1297_1298del (p.Glu433fs)
|
rs387906256
|
|
NM_000382.3(ALDH3A2):c.1307_1311dup (p.Leu438fs)
|
rs387906257
|
|
NM_000402.4(G6PD):c.727G>T (p.Val243Leu)
|
rs137852326
|
|
NM_000435.3(NOTCH3):c.1364G>A (p.Cys455Tyr)
|
rs886041513
|
|
NM_000435.3(NOTCH3):c.3182G>A (p.Cys1061Tyr)
|
rs1064794216
|
|
NM_000492.4(CFTR):c.1367T>C (p.Val456Ala)
|
rs193922500
|
|
NM_000492.4(CFTR):c.1543_1555del (p.Tyr515fs)
|
rs1301983423
|
|
NM_000492.4(CFTR):c.743+1G>C
|
rs397508791
|
|
NM_000520.6(HEXA):c.590A>C (p.Lys197Thr)
|
rs121907973
|
|
NM_000527.5(LDLR):c.2096C>T (p.Pro699Leu)
|
|
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NM_000530.8(MPZ):c.130_137del (p.Ser44fs)
|
rs1571820186
|
|
NM_000535.7(PMS2):c.2095G>C (p.Asp699His)
|
rs587781317
|
|
NM_000546.6(TP53):c.404G>A (p.Cys135Tyr)
|
rs587781991
|
|
NM_000548.5(TSC2):c.2113G>A (p.Val705Met)
|
rs397515241
|
|
NM_000551.4(VHL):c.257C>G (p.Pro86Arg)
|
rs730882034
|
|
NM_000552.5(VWF):c.7483del (p.Leu2495fs)
|
rs1229452874
|
|
NM_001039141.3(TRIOBP):c.3854_3855del (p.Arg1285fs)
|
rs750744696
|
|
NM_001040436.3(YARS2):c.201dup (p.Gly68fs)
|
rs1555137047
|
|
NM_001042492.3(NF1):c.204+1G>T
|
rs886039548
|
|
NM_001042492.3(NF1):c.2268del (p.Arg758fs)
|
rs2151426865
|
|
NM_001042492.3(NF1):c.4369A>G (p.Lys1457Glu)
|
rs878853893
|
|
NM_001083961.2(WDR62):c.2396_2397del (p.Glu799fs)
|
rs747870811
|
|
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp)
|
rs61751444
|
|
NM_001114753.3(ENG):c.1311G>C (p.Arg437=)
|
rs1554809448
|
|
NM_001114753.3(ENG):c.1429-1G>A
|
rs2131876244
|
|
NM_001114753.3(ENG):c.899T>C (p.Leu300Pro)
|
rs1335718486
|
|
NM_001122764.3(PPOX):c.199del (p.Ala66_Leu67insTer)
|
rs786204784
|
|
NM_001142864.4(PIEZO1):c.1792G>A (p.Val598Met)
|
rs2142820621
|
|
NM_001142864.4(PIEZO1):c.5289C>G (p.Tyr1763Ter)
|
rs72811487
|
|
NM_001142864.4(PIEZO1):c.6058G>A (p.Ala2020Thr)
|
rs587776989
|
|
NM_001267550.2(TTN):c.47479C>T (p.Gln15827Ter)
|
rs794729261
|
|
NM_001267550.2(TTN):c.80584del (p.Ser26862fs)
|
rs794729348
|
|
NM_001267550.2(TTN):c.94103_94107del (p.Ile31368fs)
|
rs769488730
|
|
NM_001278716.2(FBXL4):c.1067del (p.Gly356fs)
|
rs1554219474
|
|
NM_001289104.2(PRKCSH):c.1285G>T (p.Glu429Ter)
|
|
|
NM_001292063.2(OTOG):c.432del (p.Gln145fs)
|
rs1393191930
|
|
NM_001355436.2(SPTB):c.1A>G (p.Met1Val)
|
rs121918651
|
|
NM_001355436.2(SPTB):c.208C>T (p.Arg70Ter)
|
rs1566775577
|
|
NM_001355436.2(SPTB):c.3916C>T (p.Arg1306Ter)
|
rs150471537
|
|
NM_001355436.2(SPTB):c.4735C>T (p.Arg1579Ter)
|
rs760938057
|
|
NM_001355436.2(SPTB):c.4973+5G>A
|
rs1555367789
|
|
NM_001356.5(DDX3X):c.1486G>A (p.Val496Met)
|
rs1555954154
|
|
NM_001376013.1(EPB41):c.628A>G (p.Met210Val)
|
rs1557948192
|
|
NM_001845.6(COL4A1):c.3307G>A (p.Gly1103Arg)
|
rs1877796698
|
|
NM_001849.4(COL6A2):c.1458+1G>A
|
rs886044526
|
|
NM_002180.3(IGHMBP2):c.2911_2912del (p.Arg971fs)
|
rs724159994
|
|
NM_002633.3(PGM1):c.1144+3A>T
|
|
|
NM_002880.4(RAF1):c.776C>G (p.Ser259Cys)
|
rs397516827
|
|
NM_003126.4(SPTA1):c.1350+1G>C
|
|
|
NM_003126.4(SPTA1):c.1833+1G>A
|
rs1035389616
|
|
NM_003126.4(SPTA1):c.2938C>T (p.Gln980Ter)
|
rs539524312
|
|
NM_003126.4(SPTA1):c.4398T>G (p.Tyr1466Ter)
|
|
|
NM_003126.4(SPTA1):c.6154del (p.Ala2052fs)
|
|
|
NM_003640.5(ELP1):c.138dup (p.Val47fs)
|
rs1564110292
|
|
NM_003640.5(ELP1):c.2894_2906del (p.Ile965fs)
|
|
|
NM_004115.4(FGF14):c.564del (p.Thr190fs)
|
rs2035456443
|
|
NM_004360.5(CDH1):c.2195G>A (p.Arg732Gln)
|
rs1060501244
|
|
NM_004820.5(CYP7B1):c.1150del (p.Asp384fs)
|
rs2129629942
|
|
NM_005097.4(LGI1):c.108del (p.Lys36fs)
|
rs2133975489
|
|
NM_005138.3(SCO2):c.577G>A (p.Gly193Ser)
|
|
|
NM_005359.6(SMAD4):c.1351_1375del (p.Ala451fs)
|
rs587780124
|
|
NM_006493.4(CLN5):c.808_823del (p.Gly270fs)
|
rs386833983
|
|
NM_006516.4(SLC2A1):c.843_854del (p.Gln282_Ser285del)
|
rs2124448824
|
|
NM_007272.3(CTRC):c.649G>C (p.Gly217Arg)
|
rs202058123
|
|
NM_014334.4(FRRS1L):c.566del (p.Pro189fs)
|
rs1831184766
|
|
NM_014946.4(SPAST):c.1196C>T (p.Ser399Leu)
|
rs1553317025
|
|
NM_014946.4(SPAST):c.1775T>A (p.Ile592Lys)
|
rs1553321237
|
|
NM_015346.4(ZFYVE26):c.1343_1344del (p.Leu448fs)
|
rs1190463308
|
|
NM_015915.5(ATL1):c.1243C>T (p.Arg415Trp)
|
rs119476050
|
|
NM_015915.5(ATL1):c.757G>A (p.Val253Ile)
|
rs864622520
|
|
NM_016239.4(MYO15A):c.6004del (p.Glu2002fs)
|
|
|
NM_022124.6(CDH23):c.1152C>A (p.Ser384Arg)
|
|
|
NM_024306.5(FA2H):c.443C>T (p.Pro148Leu)
|
rs372350326
|
|
NM_032043.3(BRIP1):c.2990_2993del (p.Thr997fs)
|
rs771028677
|
|
NM_033380.3(COL4A5):c.874G>A (p.Gly292Arg)
|
rs104886073
|
|
NM_144997.7(FLCN):c.1432+1G>A
|
rs755959303
|
|
NM_144997.7(FLCN):c.189del (p.Ala64fs)
|
rs876660611
|
|
NM_144997.7(FLCN):c.521_527del (p.Thr174fs)
|
rs1085307478
|
|
NM_152419.3(HGSNAT):c.1170del (p.Trp390fs)
|
rs748387885
|
|
NM_152564.5(VPS13B):c.4771C>T (p.Arg1591Ter)
|
rs752429062
|
|
NM_172107.4(KCNQ2):c.927+1G>A
|
rs1555870346
|
|
NM_198253.3(TERT):c.2638G>A (p.Ala880Thr)
|
rs1748613571
|
|
NM_201525.4(ADGRG1):c.272G>C (p.Cys91Ser)
|
rs121908465
|
|
Single allele
|
|
|