NM_022489.4(INF2):c.1276C>T (p.Pro426Ser)
|
rs766635668
|
0.00138
|
NM_181882.3(PRX):c.1574T>C (p.Val525Ala)
|
rs149715830
|
0.00136
|
NM_181882.3(PRX):c.3186G>T (p.Lys1062Asn)
|
rs139188673
|
0.00105
|
NM_181882.3(PRX):c.2548C>G (p.Pro850Ala)
|
rs141686828
|
0.00078
|
NM_004990.4(MARS1):c.2391A>C (p.Thr797=)
|
rs140573721
|
0.00068
|
NM_004990.4(MARS1):c.2390C>T (p.Thr797Ile)
|
rs146851019
|
0.00066
|
NM_030962.4(SBF2):c.5014_5016del (p.Lys1672del)
|
rs750958357
|
0.00065
|
NM_004990.4(MARS1):c.617C>T (p.Pro206Leu)
|
rs138776588
|
0.00063
|
NM_030962.4(SBF2):c.1424A>G (p.Gln475Arg)
|
rs199894823
|
0.00059
|
NM_030962.4(SBF2):c.3824G>A (p.Arg1275His)
|
rs150028248
|
0.00059
|
NM_181882.3(PRX):c.3769G>A (p.Gly1257Arg)
|
rs200332462
|
0.00058
|
NM_006096.4(NDRG1):c.122A>G (p.His41Arg)
|
rs2233318
|
0.00054
|
NM_030973.4(MED25):c.602C>T (p.Pro201Leu)
|
rs144354024
|
0.00054
|
NM_030962.4(SBF2):c.1408C>A (p.Pro470Thr)
|
rs149967939
|
0.00052
|
NM_181882.3(PRX):c.2728G>A (p.Ala910Thr)
|
rs145203783
|
0.00052
|
NM_030962.4(SBF2):c.2081C>T (p.Ala694Val)
|
rs141368249
|
0.00051
|
NM_004990.4(MARS1):c.2116C>T (p.Arg706Cys)
|
rs148501787
|
0.00049
|
NM_030962.4(SBF2):c.4805A>G (p.Lys1602Arg)
|
rs147772705
|
0.00048
|
NM_030962.4(SBF2):c.5054C>G (p.Ser1685Trp)
|
rs148468522
|
0.00048
|
NM_018972.4(GDAP1):c.574C>A (p.Leu192Ile)
|
rs144199299
|
0.00046
|
NM_004990.4(MARS1):c.746C>T (p.Pro249Leu)
|
rs146146070
|
0.00044
|
NM_006096.4(NDRG1):c.891+5G>A
|
rs150968034
|
0.00044
|
NM_024577.4(SH3TC2):c.2812C>T (p.His938Tyr)
|
rs144688852
|
0.00043
|
NM_181882.3(PRX):c.1397C>T (p.Pro466Leu)
|
rs144530674
|
0.00042
|
NM_020631.6(PLEKHG5):c.719A>G (p.Asp240Gly)
|
rs199794578
|
0.00041
|
NM_030973.4(MED25):c.1677G>C (p.Met559Ile)
|
rs369006637
|
0.00041
|
NM_004990.4(MARS1):c.986C>A (p.Pro329His)
|
rs145260922
|
0.00040
|
NM_018972.4(GDAP1):c.556A>G (p.Ile186Val)
|
rs148508128
|
0.00040
|
NM_014845.6(FIG4):c.2459+5G>A
|
rs367944508
|
0.00038
|
NM_181882.3(PRX):c.4265G>A (p.Arg1422Gln)
|
rs142436702
|
0.00038
|
NM_004990.4(MARS1):c.1127G>A (p.Arg376Gln)
|
rs150428018
|
0.00037
|
NM_030973.4(MED25):c.679G>A (p.Val227Met)
|
rs369825113
|
0.00036
|
NM_001005373.4(LRSAM1):c.21_41dup (p.Pro10_Lys16dup)
|
rs760944483
|
0.00035
|
NM_015271.5(TRIM2):c.2215C>T (p.Pro739Ser)
|
rs199912457
|
0.00035
|
NM_015271.5(TRIM2):c.1094C>G (p.Thr365Ser)
|
rs146686472
|
0.00034
|
NM_020631.6(PLEKHG5):c.1705G>A (p.Asp569Asn)
|
rs200641225
|
0.00034
|
NM_001370298.3(FGD4):c.740T>C (p.Leu247Pro)
|
rs142609007
|
0.00033
|
NM_000263.4(NAGLU):c.170C>G (p.Ala57Gly)
|
rs181735466
|
0.00032
|
NM_014874.4(MFN2):c.2146G>A (p.Ala716Thr)
|
rs144860227
|
0.00032
|
NM_004990.4(MARS1):c.1388A>G (p.Glu463Gly)
|
rs149432418
|
0.00031
|
NM_014845.6(FIG4):c.730C>T (p.Arg244Cys)
|
rs138376077
|
0.00031
|
NM_020631.6(PLEKHG5):c.2525G>A (p.Arg842Gln)
|
rs149682441
|
0.00029
|
NM_030962.4(SBF2):c.1519G>A (p.Glu507Lys)
|
rs139217120
|
0.00029
|
NM_030962.4(SBF2):c.4522C>T (p.Arg1508Cys)
|
rs141108330
|
0.00029
|
NM_181882.3(PRX):c.361C>T (p.Arg121Trp)
|
rs750435566
|
0.00029
|
NM_020631.6(PLEKHG5):c.620C>T (p.Ser207Leu)
|
rs572530276
|
0.00026
|
NM_024577.4(SH3TC2):c.385+3A>G
|
rs184593694
|
0.00026
|
NM_181882.3(PRX):c.2837C>T (p.Ala946Val)
|
rs139700059
|
0.00026
|
NM_181882.3(PRX):c.1568T>C (p.Leu523Pro)
|
rs550446238
|
0.00025
|
NM_001005373.4(LRSAM1):c.2042G>A (p.Arg681Gln)
|
rs143479340
|
0.00024
|
NM_001005373.4(LRSAM1):c.720C>G (p.Asp240Glu)
|
rs150820300
|
0.00024
|
NM_001365951.3(KIF1B):c.2159C>T (p.Thr720Ile)
|
rs41274468
|
0.00024
|
NM_001605.3(AARS1):c.480-12C>G
|
rs199728312
|
0.00024
|
NM_006096.4(NDRG1):c.686A>G (p.Asn229Ser)
|
rs137993172
|
0.00024
|
NM_014365.3(HSPB8):c.114C>A (p.Asp38Glu)
|
rs141871482
|
0.00024
|
NM_030962.4(SBF2):c.2938A>G (p.Ile980Val)
|
rs148625171
|
0.00024
|
NM_001122955.4(BSCL2):c.299G>T (p.Cys100Phe)
|
rs147314661
|
0.00023
|
NM_021629.4(GNB4):c.853T>G (p.Leu285Val)
|
rs554623238
|
0.00023
|
NM_030962.4(SBF2):c.3433A>G (p.Arg1145Gly)
|
rs145647154
|
0.00023
|
NM_014845.6(FIG4):c.2460-8A>G
|
rs201965891
|
0.00022
|
NM_181882.3(PRX):c.3580C>G (p.Leu1194Val)
|
rs149732789
|
0.00022
|
NM_001005373.4(LRSAM1):c.1780C>T (p.Arg594Cys)
|
rs150062009
|
0.00021
|
NM_001136472.2(LITAF):c.226G>A (p.Val76Met)
|
rs371334679
|
0.00021
|
NM_001376.5(DYNC1H1):c.5050-3C>T
|
rs372462176
|
0.00021
|
NM_006096.4(NDRG1):c.613G>A (p.Val205Met)
|
rs138839833
|
0.00021
|
NM_181882.3(PRX):c.1510C>T (p.Leu504Phe)
|
rs192607896
|
0.00021
|
NM_001136472.2(LITAF):c.302A>G (p.Lys101Arg)
|
rs201283647
|
0.00020
|
NM_006096.4(NDRG1):c.63+6T>C
|
rs199597649
|
0.00020
|
NM_030962.4(SBF2):c.3831C>G (p.Ile1277Met)
|
rs139522696
|
0.00020
|
NM_030973.4(MED25):c.1132G>A (p.Gly378Ser)
|
rs138166258
|
0.00020
|
NM_181882.3(PRX):c.1987C>T (p.Pro663Ser)
|
rs149183991
|
0.00020
|
NM_001005373.4(LRSAM1):c.497C>T (p.Pro166Leu)
|
rs142085060
|
0.00019
|
NM_001122955.4(BSCL2):c.785C>T (p.Ala262Val)
|
rs140896339
|
0.00019
|
NM_001122955.4(BSCL2):c.992G>A (p.Arg331His)
|
rs201229787
|
0.00019
|
NM_001303256.3(MORC2):c.969C>A (p.Asp323Glu)
|
rs199973357
|
0.00019
|
NM_004990.4(MARS1):c.352C>T (p.Arg118Trp)
|
rs151196994
|
0.00019
|
NM_006096.4(NDRG1):c.1027C>T (p.Arg343Cys)
|
rs146613168
|
0.00019
|
NM_020631.6(PLEKHG5):c.1783G>C (p.Glu595Gln)
|
rs140597591
|
0.00019
|
NM_020631.6(PLEKHG5):c.2575C>T (p.Arg859Cys)
|
rs150666859
|
0.00019
|
NM_030962.4(SBF2):c.1967G>C (p.Cys656Ser)
|
rs138120231
|
0.00019
|
NM_030962.4(SBF2):c.3223C>T (p.Arg1075Cys)
|
rs750021823
|
0.00019
|
NM_181882.3(PRX):c.257G>A (p.Cys86Tyr)
|
rs565094384
|
0.00019
|
NM_181882.3(PRX):c.3209G>A (p.Arg1070Gln)
|
rs146222815
|
0.00019
|
NM_181882.3(PRX):c.4366G>C (p.Ala1456Pro)
|
rs149093940
|
0.00019
|
NM_181882.3(PRX):c.500G>C (p.Arg167Pro)
|
rs757322355
|
0.00019
|
NM_014845.6(FIG4):c.328A>G (p.Ile110Val)
|
rs140331779
|
0.00018
|
NM_030973.4(MED25):c.1482C>T (p.Phe494=)
|
rs185234938
|
0.00018
|
NM_030973.4(MED25):c.247C>G (p.Gln83Glu)
|
rs143148835
|
0.00018
|
NM_000263.4(NAGLU):c.1880C>T (p.Ala627Val)
|
rs140905880
|
0.00017
|
NM_000263.4(NAGLU):c.683G>A (p.Arg228Gln)
|
rs146456266
|
0.00017
|
NM_001005373.4(LRSAM1):c.94G>A (p.Asp32Asn)
|
rs150784835
|
0.00017
|
NM_001365951.3(KIF1B):c.1955C>T (p.Thr652Ile)
|
rs142881321
|
0.00017
|
NM_015271.5(TRIM2):c.520G>A (p.Ala174Thr)
|
rs200706275
|
0.00017
|
NM_016156.6(MTMR2):c.1897G>A (p.Ala633Thr)
|
rs532885622
|
0.00017
|
NM_181882.3(PRX):c.2278G>A (p.Val760Met)
|
rs548905150
|
0.00017
|
NM_181882.3(PRX):c.3656C>T (p.Pro1219Leu)
|
rs201393544
|
0.00017
|
NM_001365951.3(KIF1B):c.3131G>A (p.Ser1044Asn)
|
rs769602520
|
0.00016
|
NM_001370298.3(FGD4):c.1759A>G (p.Met587Val)
|
rs201186597
|
0.00016
|
NM_004990.4(MARS1):c.2138G>A (p.Arg713Gln)
|
rs200011880
|
0.00016
|
NM_004990.4(MARS1):c.661G>A (p.Glu221Lys)
|
rs200334446
|
0.00016
|
NM_018972.4(GDAP1):c.256A>G (p.Ile86Val)
|
rs144037310
|
0.00016
|
NM_020631.6(PLEKHG5):c.2614C>T (p.His872Tyr)
|
rs372143370
|
0.00016
|
NM_020631.6(PLEKHG5):c.83C>T (p.Pro28Leu)
|
rs143585428
|
0.00016
|
NM_021625.5(TRPV4):c.1584C>T (p.Asn528=)
|
rs142749412
|
0.00016
|
NM_021625.5(TRPV4):c.281C>T (p.Ser94Leu)
|
rs201927283
|
0.00016
|
NM_021625.5(TRPV4):c.661G>A (p.Gly221Ser)
|
rs373539744
|
0.00016
|
NM_021625.5(TRPV4):c.956C>T (p.Ser319Leu)
|
rs377518118
|
0.00016
|
NM_022489.4(INF2):c.2053A>G (p.Ile685Val)
|
rs199526439
|
0.00016
|
NM_024577.4(SH3TC2):c.1973G>A (p.Arg658His)
|
rs138040787
|
0.00016
|
NM_030962.4(SBF2):c.3127A>G (p.Ile1043Val)
|
rs147438385
|
0.00016
|
NM_030973.4(MED25):c.733G>C (p.Val245Leu)
|
rs771068558
|
0.00016
|
NM_181882.3(PRX):c.641C>G (p.Pro214Arg)
|
rs368874138
|
0.00016
|
NM_000263.4(NAGLU):c.1495C>T (p.Arg499Trp)
|
rs200981229
|
0.00015
|
NM_001365951.3(KIF1B):c.1376G>A (p.Ser459Asn)
|
rs375389310
|
0.00015
|
NM_001370298.3(FGD4):c.1973A>G (p.Asp658Gly)
|
rs141237776
|
0.00015
|
NM_006096.4(NDRG1):c.664G>A (p.Gly222Ser)
|
rs199995009
|
0.00015
|
NM_020631.6(PLEKHG5):c.1616C>T (p.Ala539Val)
|
rs370515061
|
0.00015
|
NM_022489.4(INF2):c.2054T>C (p.Ile685Thr)
|
rs201203979
|
0.00015
|
NM_030962.4(SBF2):c.2050C>G (p.Leu684Val)
|
rs146987383
|
0.00015
|
NM_001005373.4(LRSAM1):c.1199G>A (p.Arg400Gln)
|
rs150344223
|
0.00014
|
NM_001005373.4(LRSAM1):c.62A>G (p.Gln21Arg)
|
rs372408222
|
0.00014
|
NM_001122955.4(BSCL2):c.844G>A (p.Ala282Thr)
|
rs190842600
|
0.00014
|
NM_004990.4(MARS1):c.2415G>A (p.Leu805=)
|
rs374963162
|
0.00014
|
NM_004990.4(MARS1):c.95C>G (p.Thr32Ser)
|
rs11540809
|
0.00014
|
NM_006096.4(NDRG1):c.1088G>A (p.Arg363His)
|
rs181121989
|
0.00014
|
NM_014845.6(FIG4):c.1348C>T (p.Arg450Cys)
|
rs201072058
|
0.00014
|
NM_015271.5(TRIM2):c.461A>G (p.Glu154Gly)
|
rs959109286
|
0.00014
|
NM_016156.6(MTMR2):c.16A>T (p.Ser6Cys)
|
rs377006678
|
0.00014
|
NM_016156.6(MTMR2):c.604C>G (p.Pro202Ala)
|
rs186380748
|
0.00014
|
NM_020631.6(PLEKHG5):c.2746A>C (p.Thr916Pro)
|
rs187886272
|
0.00014
|
NM_030962.4(SBF2):c.2197C>G (p.Gln733Glu)
|
rs145199888
|
0.00014
|
NM_030973.4(MED25):c.1966C>A (p.Pro656Thr)
|
rs199761611
|
0.00014
|
NM_030973.4(MED25):c.629C>T (p.Pro210Leu)
|
rs370423922
|
0.00014
|
NM_181882.3(PRX):c.2449C>T (p.Arg817Cys)
|
rs147441856
|
0.00014
|
NM_001303256.3(MORC2):c.2066C>T (p.Ala689Val)
|
rs560948457
|
0.00013
|
NM_001365951.3(KIF1B):c.1594C>G (p.Pro532Ala)
|
rs201500946
|
0.00013
|
NM_001365951.3(KIF1B):c.4820G>A (p.Cys1607Tyr)
|
rs145969842
|
0.00013
|
NM_001370298.3(FGD4):c.2506A>G (p.Met836Val)
|
rs140220443
|
0.00013
|
NM_002180.3(IGHMBP2):c.1754A>G (p.Lys585Arg)
|
rs146450269
|
0.00013
|
NM_014845.6(FIG4):c.205C>T (p.Arg69Cys)
|
rs540674198
|
0.00013
|
NM_015271.5(TRIM2):c.2197A>G (p.Ile733Val)
|
rs201921014
|
0.00013
|
NM_020631.6(PLEKHG5):c.1738G>A (p.Glu580Lys)
|
rs760122001
|
0.00013
|
NM_030962.4(SBF2):c.5010C>G (p.Asp1670Glu)
|
rs142672124
|
0.00013
|
NM_030973.4(MED25):c.1090G>A (p.Ala364Thr)
|
rs370994862
|
0.00013
|
NM_030973.4(MED25):c.1786G>A (p.Val596Ile)
|
rs369707406
|
0.00013
|
NM_181882.3(PRX):c.1387G>T (p.Val463Phe)
|
rs764004836
|
0.00013
|
NM_181882.3(PRX):c.4151C>T (p.Ala1384Val)
|
rs201618230
|
0.00013
|
NM_002180.3(IGHMBP2):c.1784G>A (p.Arg595Gln)
|
rs143766075
|
0.00012
|
NM_006096.4(NDRG1):c.280G>A (p.Val94Met)
|
rs747475972
|
0.00012
|
NM_014845.6(FIG4):c.1271+5A>G
|
rs374583399
|
0.00012
|
NM_020631.6(PLEKHG5):c.971T>C (p.Ile324Thr)
|
rs746862312
|
0.00012
|
NM_022489.4(INF2):c.1264C>T (p.Pro422Ser)
|
rs767748953
|
0.00012
|
NM_030962.4(SBF2):c.1498C>T (p.Arg500Trp)
|
rs146366305
|
0.00012
|
NM_001005373.4(LRSAM1):c.1046A>G (p.Gln349Arg)
|
rs200595164
|
0.00011
|
NM_001005373.4(LRSAM1):c.1405C>T (p.Arg469Trp)
|
rs376468970
|
0.00011
|
NM_001005373.4(LRSAM1):c.2110C>T (p.Arg704Cys)
|
rs150984897
|
0.00011
|
NM_001370298.3(FGD4):c.1142C>T (p.Ser381Leu)
|
rs201915829
|
0.00011
|
NM_001370298.3(FGD4):c.506C>T (p.Ser169Leu)
|
rs143251785
|
0.00011
|
NM_002047.4(GARS1):c.236G>A (p.Arg79Gln)
|
rs369466037
|
0.00011
|
NM_003680.4(YARS1):c.1348C>T (p.Arg450Cys)
|
rs141955005
|
0.00011
|
NM_006158.5(NEFL):c.579G>A (p.Met193Ile)
|
rs367943135
|
0.00011
|
NM_014874.4(MFN2):c.1199G>A (p.Arg400Gln)
|
rs138072432
|
0.00011
|
NM_015271.5(TRIM2):c.653A>G (p.His218Arg)
|
rs952772847
|
0.00011
|
NM_030962.4(SBF2):c.4712A>G (p.Asn1571Ser)
|
rs371960255
|
0.00011
|
NM_030973.4(MED25):c.1438C>G (p.Leu480Val)
|
rs148214958
|
0.00011
|
NM_030973.4(MED25):c.286A>G (p.Thr96Ala)
|
rs201460460
|
0.00011
|
NM_181882.3(PRX):c.718C>T (p.Arg240Trp)
|
rs199863083
|
0.00011
|
NM_001005373.4(LRSAM1):c.620-3C>T
|
rs373015900
|
0.00010
|
NM_001122955.4(BSCL2):c.1313C>T (p.Pro438Leu)
|
rs1473465067
|
0.00010
|
NM_001303256.3(MORC2):c.712C>T (p.Arg238Cys)
|
rs371713427
|
0.00010
|
NM_001370298.3(FGD4):c.2029A>G (p.Ile677Val)
|
rs1230547567
|
0.00010
|
NM_001370298.3(FGD4):c.2123C>A (p.Pro708His)
|
rs145071617
|
0.00010
|
NM_001605.3(AARS1):c.1811A>G (p.Asn604Ser)
|
rs371595630
|
0.00010
|
NM_001605.3(AARS1):c.333+3A>C
|
rs747431164
|
0.00010
|
NM_001605.3(AARS1):c.497T>G (p.Ile166Ser)
|
rs199997425
|
0.00010
|
NM_002180.3(IGHMBP2):c.1826C>A (p.Ala609Glu)
|
rs776775995
|
0.00010
|
NM_002180.3(IGHMBP2):c.2375C>T (p.Ala792Val)
|
rs375300165
|
0.00010
|
NM_002180.3(IGHMBP2):c.856C>T (p.Arg286Trp)
|
rs751421003
|
0.00010
|
NM_003680.4(YARS1):c.795G>C (p.Lys265Asn)
|
rs141482636
|
0.00010
|
NM_006096.4(NDRG1):c.874C>A (p.Leu292Ile)
|
rs745520295
|
0.00010
|
NM_006158.5(NEFL):c.1276G>A (p.Gly426Ser)
|
rs372245403
|
0.00010
|
NM_016156.6(MTMR2):c.1741A>G (p.Ile581Val)
|
rs149476960
|
0.00010
|
NM_016156.6(MTMR2):c.1843C>G (p.Gln615Glu)
|
rs886048770
|
0.00010
|
NM_020631.6(PLEKHG5):c.2212A>G (p.Met738Val)
|
rs778686532
|
0.00010
|
NM_020631.6(PLEKHG5):c.2789G>A (p.Arg930Gln)
|
rs376237905
|
0.00010
|
NM_022489.4(INF2):c.2489G>T (p.Gly830Val)
|
rs377340315
|
0.00010
|
NM_024577.4(SH3TC2):c.2273C>A (p.Ala758Asp)
|
rs200006756
|
0.00010
|
NM_024577.4(SH3TC2):c.3013G>A (p.Glu1005Lys)
|
rs147895061
|
0.00010
|
NM_024577.4(SH3TC2):c.3413G>A (p.Ser1138Asn)
|
rs150805608
|
0.00010
|
NM_030962.4(SBF2):c.2474A>G (p.Lys825Arg)
|
rs753921188
|
0.00010
|
NM_170707.4(LMNA):c.1202G>A (p.Arg401His)
|
rs141490569
|
0.00010
|
NM_181882.3(PRX):c.16C>G (p.Arg6Gly)
|
rs759056060
|
0.00010
|
NM_181882.3(PRX):c.2909G>A (p.Arg970Gln)
|
rs764162630
|
0.00010
|
NM_181882.3(PRX):c.4118G>A (p.Arg1373Gln)
|
rs763294661
|
0.00010
|
NM_000263.4(NAGLU):c.1430G>C (p.Ser477Thr)
|
rs369970264
|
0.00009
|
NM_000263.4(NAGLU):c.1435G>A (p.Ala479Thr)
|
rs202115696
|
0.00009
|
NM_000263.4(NAGLU):c.1474G>A (p.Ala492Thr)
|
rs930823153
|
0.00009
|
NM_000263.4(NAGLU):c.788C>T (p.Thr263Met)
|
rs777479452
|
0.00009
|
NM_001005361.3(DNM2):c.2543+6G>T
|
rs531145240
|
0.00009
|
NM_001005373.4(LRSAM1):c.1153G>A (p.Val385Ile)
|
rs373570877
|
0.00009
|
NM_001005373.4(LRSAM1):c.563C>T (p.Pro188Leu)
|
rs138830549
|
0.00009
|
NM_001136472.2(LITAF):c.448A>C (p.Asn150His)
|
rs764014476
|
0.00009
|
NM_001365951.3(KIF1B):c.146C>A (p.Ser49Tyr)
|
rs143654307
|
0.00009
|
NM_001365951.3(KIF1B):c.3407T>C (p.Ile1136Thr)
|
rs374098797
|
0.00009
|
NM_001365951.3(KIF1B):c.59C>T (p.Thr20Ile)
|
rs538135467
|
0.00009
|
NM_001365951.3(KIF1B):c.899A>G (p.Lys300Arg)
|
rs373698346
|
0.00009
|
NM_001370298.3(FGD4):c.1508T>C (p.Leu503Ser)
|
rs555510533
|
0.00009
|
NM_002180.3(IGHMBP2):c.451G>A (p.Ala151Thr)
|
rs536962342
|
0.00009
|
NM_002180.3(IGHMBP2):c.679A>G (p.Ile227Val)
|
rs779639460
|
0.00009
|
NM_002180.3(IGHMBP2):c.809G>A (p.Arg270His)
|
rs756408576
|
0.00009
|
NM_003680.4(YARS1):c.347A>T (p.Lys116Met)
|
rs148823175
|
0.00009
|
NM_004990.4(MARS1):c.1033C>T (p.Arg345Cys)
|
rs772759631
|
0.00009
|
NM_004990.4(MARS1):c.1049C>T (p.Ser350Leu)
|
rs147637407
|
0.00009
|
NM_004990.4(MARS1):c.1181G>A (p.Arg394His)
|
rs769544594
|
0.00009
|
NM_004990.4(MARS1):c.2672C>T (p.Pro891Leu)
|
rs148245567
|
0.00009
|
NM_004990.4(MARS1):c.298C>G (p.Leu100Val)
|
rs200701235
|
0.00009
|
NM_005391.5(PDK3):c.562G>A (p.Asp188Asn)
|
rs1165981822
|
0.00009
|
NM_014365.3(HSPB8):c.14A>G (p.Gln5Arg)
|
rs146900850
|
0.00009
|
NM_014365.3(HSPB8):c.512T>C (p.Val171Ala)
|
rs878854979
|
0.00009
|
NM_014845.6(FIG4):c.350C>T (p.Ala117Val)
|
rs551339249
|
0.00009
|
NM_014874.4(MFN2):c.1150C>T (p.Arg384Trp)
|
rs777353788
|
0.00009
|
NM_016156.6(MTMR2):c.263-3C>T
|
rs553551578
|
0.00009
|
NM_018972.4(GDAP1):c.58G>A (p.Ala20Thr)
|
rs375536495
|
0.00009
|
NM_018972.4(GDAP1):c.693A>T (p.Pro231=)
|
rs181157785
|
0.00009
|
NM_020631.6(PLEKHG5):c.2215C>T (p.Arg739Trp)
|
rs189468475
|
0.00009
|
NM_020631.6(PLEKHG5):c.2390C>T (p.Thr797Met)
|
rs111724922
|
0.00009
|
NM_020631.6(PLEKHG5):c.2885C>T (p.Ser962Leu)
|
rs369440409
|
0.00009
|
NM_020631.6(PLEKHG5):c.518G>A (p.Arg173Gln)
|
rs142378760
|
0.00009
|
NM_021625.5(TRPV4):c.2609C>T (p.Pro870Leu)
|
rs756526036
|
0.00009
|
NM_024577.4(SH3TC2):c.259G>C (p.Glu87Gln)
|
rs947749200
|
0.00009
|
NM_030962.4(SBF2):c.1907C>A (p.Pro636His)
|
rs544091616
|
0.00009
|
NM_030962.4(SBF2):c.4076C>T (p.Ala1359Val)
|
rs368839717
|
0.00009
|
NM_030973.4(MED25):c.1055C>T (p.Pro352Leu)
|
rs764267049
|
0.00009
|
NM_181882.3(PRX):c.1091G>A (p.Arg364Gln)
|
rs561482109
|
0.00009
|
NM_181882.3(PRX):c.2463C>T (p.Gly821=)
|
rs368481955
|
0.00009
|
NM_181882.3(PRX):c.3346G>T (p.Val1116Leu)
|
rs148075077
|
0.00009
|
NM_181882.3(PRX):c.3673G>A (p.Val1225Met)
|
rs140880177
|
0.00009
|
NM_181882.3(PRX):c.4111C>T (p.Arg1371Trp)
|
rs753339248
|
0.00009
|
NM_181882.3(PRX):c.4129C>T (p.Arg1377Cys)
|
rs768524850
|
0.00009
|
NM_181882.3(PRX):c.862G>A (p.Val288Met)
|
rs568618329
|
0.00009
|
NM_001005373.4(LRSAM1):c.1717C>A (p.Gln573Lys)
|
rs150882646
|
0.00008
|
NM_001122955.4(BSCL2):c.1202G>A (p.Gly401Glu)
|
rs767463971
|
0.00008
|
NM_001136472.2(LITAF):c.268C>T (p.Arg90Cys)
|
rs375665454
|
0.00008
|
NM_001365951.3(KIF1B):c.215G>A (p.Arg72His)
|
rs761343609
|
0.00008
|
NM_001605.3(AARS1):c.2105C>T (p.Pro702Leu)
|
rs776471315
|
0.00008
|
NM_002180.3(IGHMBP2):c.2188C>T (p.Arg730Trp)
|
rs146409569
|
0.00008
|
NM_002180.3(IGHMBP2):c.2191G>A (p.Ala731Thr)
|
rs139871647
|
0.00008
|
NM_004990.4(MARS1):c.1000G>A (p.Asp334Asn)
|
rs760487210
|
0.00008
|
NM_004990.4(MARS1):c.1340G>A (p.Ser447Asn)
|
rs748377952
|
0.00008
|
NM_006096.4(NDRG1):c.1051C>T (p.Arg351Ter)
|
rs765621411
|
0.00008
|
NM_014365.3(HSPB8):c.391G>A (p.Glu131Lys)
|
rs754993844
|
0.00008
|
NM_014845.6(FIG4):c.101C>T (p.Thr34Met)
|
rs375691683
|
0.00008
|
NM_014845.6(FIG4):c.1804G>A (p.Glu602Lys)
|
rs143184413
|
0.00008
|
NM_014845.6(FIG4):c.1940A>G (p.Tyr647Cys)
|
rs150301327
|
0.00008
|
NM_014874.4(MFN2):c.160G>A (p.Ala54Thr)
|
rs61733203
|
0.00008
|
NM_014874.4(MFN2):c.857T>C (p.Val286Ala)
|
rs765825496
|
0.00008
|
NM_015271.5(TRIM2):c.497G>A (p.Arg166Gln)
|
rs146252965
|
0.00008
|
NM_020631.6(PLEKHG5):c.2543G>A (p.Arg848Gln)
|
rs761000380
|
0.00008
|
NM_021625.5(TRPV4):c.1729G>A (p.Val577Met)
|
rs140535889
|
0.00008
|
NM_021629.4(GNB4):c.44G>A (p.Arg15Gln)
|
rs138187021
|
0.00008
|
NM_030962.4(SBF2):c.783G>T (p.Gln261His)
|
rs759932929
|
0.00008
|
NM_030973.4(MED25):c.1801G>A (p.Ala601Thr)
|
rs767338688
|
0.00008
|
NM_170707.4(LMNA):c.1381-5G>A
|
rs730880133
|
0.00008
|
NM_170707.4(LMNA):c.1488+6T>G
|
rs369642101
|
0.00008
|
NM_181882.3(PRX):c.1546C>T (p.Arg516Trp)
|
rs144305922
|
0.00008
|
NM_181882.3(PRX):c.1646C>T (p.Pro549Leu)
|
rs150582069
|
0.00008
|
NM_181882.3(PRX):c.3271G>A (p.Ala1091Thr)
|
rs368459753
|
0.00008
|
NM_181882.3(PRX):c.4017C>A (p.Ser1339Arg)
|
rs758057597
|
0.00008
|
NM_181882.3(PRX):c.553C>T (p.Arg185Cys)
|
rs376863946
|
0.00008
|
NM_181882.3(PRX):c.574C>T (p.Arg192Trp)
|
rs780147663
|
0.00008
|
NM_000263.4(NAGLU):c.593T>A (p.Phe198Tyr)
|
rs752264680
|
0.00007
|
NM_001005361.3(DNM2):c.234A>G (p.Thr78=)
|
rs747545894
|
0.00007
|
NM_001122955.4(BSCL2):c.895G>A (p.Ala299Thr)
|
rs141377075
|
0.00007
|
NM_001303256.3(MORC2):c.2702_2704dup (p.Leu901_Ser902insMet)
|
rs779496791
|
0.00007
|
NM_001365951.3(KIF1B):c.4171C>T (p.Leu1391=)
|
rs1035373795
|
0.00007
|
NM_001605.3(AARS1):c.622G>A (p.Asp208Asn)
|
rs780893599
|
0.00007
|
NM_001605.3(AARS1):c.958C>T (p.Arg320Cys)
|
rs138490305
|
0.00007
|
NM_002180.3(IGHMBP2):c.1108G>A (p.Asp370Asn)
|
rs200007067
|
0.00007
|
NM_004990.4(MARS1):c.734A>G (p.Glu245Gly)
|
rs778753999
|
0.00007
|
NM_006096.4(NDRG1):c.185A>G (p.Tyr62Cys)
|
rs142426003
|
0.00007
|
NM_006096.4(NDRG1):c.431A>G (p.Tyr144Cys)
|
rs139220402
|
0.00007
|
NM_006158.5(NEFL):c.1559C>T (p.Thr520Ile)
|
rs750697495
|
0.00007
|
NM_014845.6(FIG4):c.2096G>A (p.Arg699His)
|
rs750091928
|
0.00007
|
NM_014845.6(FIG4):c.2141C>T (p.Thr714Ile)
|
rs146689226
|
0.00007
|
NM_016156.6(MTMR2):c.1861C>T (p.Arg621Ter)
|
rs753364428
|
0.00007
|
NM_016156.6(MTMR2):c.810A>C (p.Leu270Phe)
|
rs587779385
|
0.00007
|
NM_016156.6(MTMR2):c.894A>T (p.Glu298Asp)
|
rs200898934
|
0.00007
|
NM_020631.6(PLEKHG5):c.1510G>A (p.Glu504Lys)
|
rs552364487
|
0.00007
|
NM_020631.6(PLEKHG5):c.2227G>A (p.Gly743Ser)
|
rs145073653
|
0.00007
|
NM_020631.6(PLEKHG5):c.541G>A (p.Ala181Thr)
|
rs527341275
|
0.00007
|
NM_020631.6(PLEKHG5):c.718G>A (p.Asp240Asn)
|
rs765882140
|
0.00007
|
NM_021625.5(TRPV4):c.143C>T (p.Ser48Leu)
|
rs756185743
|
0.00007
|
NM_021625.5(TRPV4):c.655C>T (p.Arg219Cys)
|
rs754023659
|
0.00007
|
NM_022489.4(INF2):c.*1+1G>C
|
rs758452999
|
0.00007
|
NM_022489.4(INF2):c.2236G>A (p.Glu746Lys)
|
rs569586169
|
0.00007
|
NM_024577.4(SH3TC2):c.3095G>A (p.Arg1032His)
|
rs372839905
|
0.00007
|
NM_030962.4(SBF2):c.1436G>A (p.Arg479Gln)
|
rs775059182
|
0.00007
|
NM_030962.4(SBF2):c.1499G>A (p.Arg500Gln)
|
rs759084094
|
0.00007
|
NM_030962.4(SBF2):c.2014A>G (p.Thr672Ala)
|
rs770839510
|
0.00007
|
NM_030962.4(SBF2):c.3410A>G (p.Tyr1137Cys)
|
rs370742916
|
0.00007
|
NM_030962.4(SBF2):c.3574A>G (p.Thr1192Ala)
|
rs761285334
|
0.00007
|
NM_030962.4(SBF2):c.3866G>A (p.Arg1289Gln)
|
rs757836523
|
0.00007
|
NM_030962.4(SBF2):c.4257+6C>G
|
rs370274486
|
0.00007
|
NM_030962.4(SBF2):c.5074T>C (p.Ser1692Pro)
|
rs776642521
|
0.00007
|
NM_030973.4(MED25):c.1101+4G>A
|
rs746210338
|
0.00007
|
NM_030973.4(MED25):c.1756C>T (p.Arg586Cys)
|
rs752175666
|
0.00007
|
NM_181882.3(PRX):c.1040G>A (p.Arg347Gln)
|
rs141288626
|
0.00007
|
NM_181882.3(PRX):c.2036G>A (p.Arg679Gln)
|
rs145856805
|
0.00007
|
NM_181882.3(PRX):c.3037G>A (p.Asp1013Asn)
|
rs548086012
|
0.00007
|
NM_181882.3(PRX):c.3385T>C (p.Ser1129Pro)
|
rs139125398
|
0.00007
|
NM_181882.3(PRX):c.922A>G (p.Thr308Ala)
|
rs753330520
|
0.00007
|
NM_000263.4(NAGLU):c.1192C>A (p.Gln398Lys)
|
rs553293896
|
0.00006
|
NM_001005361.3(DNM2):c.2074C>T (p.His692Tyr)
|
rs752473055
|
0.00006
|
NM_001005361.3(DNM2):c.535A>G (p.Met179Val)
|
rs748887276
|
0.00006
|
NM_001005361.3(DNM2):c.601A>G (p.Ile201Val)
|
rs969140793
|
0.00006
|
NM_001005373.4(LRSAM1):c.103G>A (p.Asp35Asn)
|
rs551183702
|
0.00006
|
NM_001005373.4(LRSAM1):c.1067T>C (p.Leu356Ser)
|
rs142958539
|
0.00006
|
NM_001005373.4(LRSAM1):c.1422+6C>T
|
rs745690669
|
0.00006
|
NM_001005373.4(LRSAM1):c.1949C>T (p.Thr650Met)
|
rs773505699
|
0.00006
|
NM_001005373.4(LRSAM1):c.436G>A (p.Val146Met)
|
rs555377969
|
0.00006
|
NM_001005373.4(LRSAM1):c.913C>T (p.Arg305Trp)
|
rs376566243
|
0.00006
|
NM_001122955.4(BSCL2):c.1147G>A (p.Gly383Arg)
|
rs772516974
|
0.00006
|
NM_001136472.2(LITAF):c.197C>T (p.Ala66Val)
|
rs140714668
|
0.00006
|
NM_001136472.2(LITAF):c.310G>A (p.Val104Met)
|
rs373445989
|
0.00006
|
NM_001303256.3(MORC2):c.2203A>G (p.Ser735Gly)
|
rs186049675
|
0.00006
|
NM_001303256.3(MORC2):c.258G>C (p.Lys86Asn)
|
rs150980372
|
0.00006
|
NM_001303256.3(MORC2):c.2668G>A (p.Glu890Lys)
|
rs201090445
|
0.00006
|
NM_001303256.3(MORC2):c.2677C>T (p.Arg893Cys)
|
rs150496681
|
0.00006
|
NM_001365951.3(KIF1B):c.1364C>T (p.Thr455Met)
|
rs201474903
|
0.00006
|
NM_001365951.3(KIF1B):c.1769G>A (p.Ser590Asn)
|
rs768672234
|
0.00006
|
NM_001365951.3(KIF1B):c.2115+6A>T
|
rs149407490
|
0.00006
|
NM_001365951.3(KIF1B):c.2675+3A>G
|
rs200684032
|
0.00006
|
NM_001365951.3(KIF1B):c.4019C>A (p.Ser1340Tyr)
|
rs202229713
|
0.00006
|
NM_001365951.3(KIF1B):c.4265G>A (p.Arg1422His)
|
rs149417293
|
0.00006
|
NM_001365951.3(KIF1B):c.85C>G (p.Gln29Glu)
|
rs760368705
|
0.00006
|
NM_001370298.3(FGD4):c.1078A>C (p.Asn360His)
|
rs761788290
|
0.00006
|
NM_001370298.3(FGD4):c.792A>G (p.Ile264Met)
|
rs774466701
|
0.00006
|
NM_001370298.3(FGD4):c.808G>A (p.Asp270Asn)
|
rs113416502
|
0.00006
|
NM_001370298.3(FGD4):c.980T>A (p.Leu327Gln)
|
rs144980336
|
0.00006
|
NM_001605.3(AARS1):c.1399A>G (p.Ile467Val)
|
rs376215607
|
0.00006
|
NM_001605.3(AARS1):c.940C>T (p.Arg314Trp)
|
rs753667245
|
0.00006
|
NM_002047.4(GARS1):c.1451A>C (p.Lys484Thr)
|
rs528223570
|
0.00006
|
NM_002047.4(GARS1):c.1852G>A (p.Val618Ile)
|
rs369894731
|
0.00006
|
NM_002047.4(GARS1):c.2065C>G (p.Arg689Gly)
|
rs376308368
|
0.00006
|
NM_002180.3(IGHMBP2):c.1018G>A (p.Glu340Lys)
|
rs750580259
|
0.00006
|
NM_002180.3(IGHMBP2):c.1913C>T (p.Thr638Met)
|
rs747465472
|
0.00006
|
NM_002180.3(IGHMBP2):c.2753G>A (p.Arg918His)
|
rs368584364
|
0.00006
|
NM_002180.3(IGHMBP2):c.284C>T (p.Ala95Val)
|
rs372940951
|
0.00006
|
NM_002180.3(IGHMBP2):c.724G>A (p.Ala242Thr)
|
rs746259825
|
0.00006
|
NM_002180.3(IGHMBP2):c.7T>G (p.Ser3Ala)
|
rs751910797
|
0.00006
|
NM_003680.4(YARS1):c.1349G>A (p.Arg450His)
|
rs147005844
|
0.00006
|
NM_003680.4(YARS1):c.1570G>C (p.Gly524Arg)
|
rs141974881
|
0.00006
|
NM_003680.4(YARS1):c.946G>A (p.Ala316Thr)
|
rs138454151
|
0.00006
|
NM_004990.4(MARS1):c.1540-3C>T
|
rs372013808
|
0.00006
|
NM_004990.4(MARS1):c.1813G>A (p.Asp605Asn)
|
rs139600659
|
0.00006
|
NM_004990.4(MARS1):c.2236G>T (p.Val746Leu)
|
rs765690389
|
0.00006
|
NM_004990.4(MARS1):c.699T>G (p.Ile233Met)
|
rs201597392
|
0.00006
|
NM_005391.5(PDK3):c.422C>T (p.Pro141Leu)
|
rs898354567
|
0.00006
|
NM_006096.4(NDRG1):c.205C>T (p.His69Tyr)
|
rs373590447
|
0.00006
|
NM_006096.4(NDRG1):c.704G>A (p.Arg235His)
|
rs748331213
|
0.00006
|
NM_006158.5(NEFL):c.1340T>C (p.Val447Ala)
|
rs1045761358
|
0.00006
|
NM_014845.6(FIG4):c.1187C>G (p.Ala396Gly)
|
rs758599286
|
0.00006
|
NM_014845.6(FIG4):c.1544T>C (p.Ile515Thr)
|
rs370249754
|
0.00006
|
NM_014845.6(FIG4):c.1880C>A (p.Thr627Lys)
|
rs770831509
|
0.00006
|
NM_014845.6(FIG4):c.535C>T (p.Leu179Phe)
|
rs141116831
|
0.00006
|
NM_014845.6(FIG4):c.923C>T (p.Ala308Val)
|
rs180689715
|
0.00006
|
NM_014874.4(MFN2):c.1709A>G (p.Asn570Ser)
|
rs376925978
|
0.00006
|
NM_015271.5(TRIM2):c.346G>A (p.Val116Met)
|
rs763365056
|
0.00006
|
NM_016156.6(MTMR2):c.1402G>C (p.Asp468His)
|
rs142460913
|
0.00006
|
NM_016156.6(MTMR2):c.14C>G (p.Ser5Trp)
|
rs778430688
|
0.00006
|
NM_018972.4(GDAP1):c.1039A>G (p.Met347Val)
|
rs112786851
|
0.00006
|
NM_018972.4(GDAP1):c.694+5G>A
|
rs752550394
|
0.00006
|
NM_020631.6(PLEKHG5):c.1066C>T (p.Arg356Trp)
|
rs764053619
|
0.00006
|
NM_020631.6(PLEKHG5):c.124G>C (p.Glu42Gln)
|
rs373611638
|
0.00006
|
NM_020631.6(PLEKHG5):c.1697T>A (p.Leu566Gln)
|
rs376513313
|
0.00006
|
NM_020631.6(PLEKHG5):c.1924C>T (p.Arg642Trp)
|
rs139188442
|
0.00006
|
NM_020631.6(PLEKHG5):c.274G>A (p.Val92Ile)
|
rs371516662
|
0.00006
|
NM_020631.6(PLEKHG5):c.568C>T (p.Arg190Cys)
|
rs763551102
|
0.00006
|
NM_020631.6(PLEKHG5):c.665C>T (p.Thr222Met)
|
rs373678202
|
0.00006
|
NM_021625.5(TRPV4):c.1139C>T (p.Thr380Met)
|
rs764949536
|
0.00006
|
NM_021625.5(TRPV4):c.1491+5G>C
|
rs375360273
|
0.00006
|
NM_021625.5(TRPV4):c.1982G>A (p.Arg661His)
|
rs368448939
|
0.00006
|
NM_021625.5(TRPV4):c.226C>T (p.Arg76Cys)
|
rs777647151
|
0.00006
|
NM_021625.5(TRPV4):c.25C>T (p.Arg9Cys)
|
rs758741868
|
0.00006
|
NM_021625.5(TRPV4):c.2605G>A (p.Ala869Thr)
|
rs138396764
|
0.00006
|
NM_021625.5(TRPV4):c.709C>T (p.Arg237Ter)
|
rs746368269
|
0.00006
|
NM_021625.5(TRPV4):c.745C>T (p.Arg249Cys)
|
rs148041016
|
0.00006
|
NM_021625.5(TRPV4):c.746G>A (p.Arg249His)
|
rs771294425
|
0.00006
|
NM_021625.5(TRPV4):c.958C>T (p.Arg320Ter)
|
rs142902080
|
0.00006
|
NM_022489.4(INF2):c.2179G>A (p.Ala727Thr)
|
rs762960061
|
0.00006
|
NM_022489.4(INF2):c.507+6C>T
|
rs749868411
|
0.00006
|
NM_024577.4(SH3TC2):c.1529A>C (p.Tyr510Ser)
|
rs757294130
|
0.00006
|
NM_024577.4(SH3TC2):c.1921C>T (p.Arg641Cys)
|
rs752002618
|
0.00006
|
NM_024577.4(SH3TC2):c.2492G>A (p.Ser831Asn)
|
rs375034766
|
0.00006
|
NM_024577.4(SH3TC2):c.3035G>A (p.Arg1012Gln)
|
rs140666774
|
0.00006
|
NM_024577.4(SH3TC2):c.3077G>A (p.Cys1026Tyr)
|
rs367656036
|
0.00006
|
NM_024577.4(SH3TC2):c.3094C>T (p.Arg1032Cys)
|
rs375603885
|
0.00006
|
NM_024577.4(SH3TC2):c.3847G>C (p.Gly1283Arg)
|
rs370844006
|
0.00006
|
NM_030962.4(SBF2):c.1894G>A (p.Ala632Thr)
|
rs1386270581
|
0.00006
|
NM_030962.4(SBF2):c.2424T>A (p.Asn808Lys)
|
rs146868794
|
0.00006
|
NM_030962.4(SBF2):c.3006G>T (p.Lys1002Asn)
|
rs572884226
|
0.00006
|
NM_030962.4(SBF2):c.3617T>C (p.Val1206Ala)
|
rs766573319
|
0.00006
|
NM_030962.4(SBF2):c.3812G>A (p.Arg1271His)
|
rs201249004
|
0.00006
|
NM_030962.4(SBF2):c.3877A>G (p.Lys1293Glu)
|
rs200594508
|
0.00006
|
NM_030962.4(SBF2):c.3989T>C (p.Val1330Ala)
|
rs147350002
|
0.00006
|
NM_030973.4(MED25):c.1762C>T (p.Pro588Ser)
|
rs777358313
|
0.00006
|
NM_030973.4(MED25):c.802G>A (p.Val268Ile)
|
rs1015978148
|
0.00006
|
NM_170707.4(LMNA):c.1004G>A (p.Arg335Gln)
|
rs138592977
|
0.00006
|
NM_170707.4(LMNA):c.1567G>A (p.Gly523Arg)
|
rs201583907
|
0.00006
|
NM_170707.4(LMNA):c.937-7C>G
|
rs267607681
|
0.00006
|
NM_181882.3(PRX):c.1100C>A (p.Ala367Asp)
|
rs143400291
|
0.00006
|
NM_181882.3(PRX):c.1402G>A (p.Val468Met)
|
rs763489447
|
0.00006
|
NM_181882.3(PRX):c.1479G>C (p.Glu493Asp)
|
rs367946424
|
0.00006
|
NM_181882.3(PRX):c.154C>A (p.Pro52Thr)
|
rs1012350923
|
0.00006
|
NM_181882.3(PRX):c.1828G>A (p.Glu610Lys)
|
rs537664679
|
0.00006
|
NM_181882.3(PRX):c.1979C>T (p.Pro660Leu)
|
rs748737580
|
0.00006
|
NM_181882.3(PRX):c.2056C>A (p.Pro686Thr)
|
rs374232032
|
0.00006
|
NM_181882.3(PRX):c.2296G>A (p.Val766Met)
|
rs763619423
|
0.00006
|
NM_181882.3(PRX):c.3799G>A (p.Gly1267Arg)
|
rs542711361
|
0.00006
|
NM_181882.3(PRX):c.3832G>A (p.Asp1278Asn)
|
rs377639106
|
0.00006
|
NM_181882.3(PRX):c.3886G>C (p.Gly1296Arg)
|
rs769014032
|
0.00006
|
NM_181882.3(PRX):c.4112G>A (p.Arg1371Gln)
|
rs377009047
|
0.00006
|
NM_181882.3(PRX):c.4219T>G (p.Ser1407Ala)
|
rs146468976
|
0.00006
|
NM_181882.3(PRX):c.4307G>A (p.Arg1436Gln)
|
rs368827070
|
0.00006
|
NM_181882.3(PRX):c.727G>A (p.Gly243Arg)
|
rs774726424
|
0.00006
|
NM_181882.3(PRX):c.839C>T (p.Pro280Leu)
|
rs557355077
|
0.00006
|
NM_181882.3(PRX):c.992C>T (p.Pro331Leu)
|
rs566629777
|
0.00006
|
NM_000263.4(NAGLU):c.1441C>T (p.Arg481Trp)
|
rs747529593
|
0.00005
|
NM_000263.4(NAGLU):c.1906G>A (p.Asp636Asn)
|
rs375068243
|
0.00005
|
NM_001005361.3(DNM2):c.1969C>T (p.Arg657Cys)
|
rs772920450
|
0.00005
|
NM_001005361.3(DNM2):c.2305C>T (p.Arg769Cys)
|
rs374864354
|
0.00005
|
NM_001005361.3(DNM2):c.868C>T (p.Arg290Trp)
|
rs587778235
|
0.00005
|
NM_001005373.4(LRSAM1):c.1347+5G>A
|
rs368570954
|
0.00005
|
NM_001005373.4(LRSAM1):c.1588C>T (p.Arg530Trp)
|
rs772793971
|
0.00005
|
NM_001005373.4(LRSAM1):c.368T>C (p.Ile123Thr)
|
rs542497718
|
0.00005
|
NM_001005373.4(LRSAM1):c.458G>A (p.Arg153His)
|
rs368689811
|
0.00005
|
NM_001005373.4(LRSAM1):c.568C>T (p.Arg190Trp)
|
rs767583106
|
0.00005
|
NM_001122955.4(BSCL2):c.1144T>C (p.Ser382Pro)
|
rs757846034
|
0.00005
|
NM_001122955.4(BSCL2):c.1201G>A (p.Gly401Arg)
|
rs138964424
|
0.00005
|
NM_001122955.4(BSCL2):c.866A>G (p.Tyr289Cys)
|
rs760470794
|
0.00005
|
NM_001136472.2(LITAF):c.*185T>C
|
rs565356536
|
0.00005
|
NM_001303256.3(MORC2):c.2644G>A (p.Ala882Thr)
|
rs372199572
|
0.00005
|
NM_001370298.3(FGD4):c.1409A>G (p.Gln470Arg)
|
rs200149526
|
0.00005
|
NM_001376.5(DYNC1H1):c.9263+5G>A
|
rs200144865
|
0.00005
|
NM_001605.3(AARS1):c.1367G>T (p.Gly456Val)
|
rs879254125
|
0.00005
|
NM_001605.3(AARS1):c.1846C>T (p.Arg616Cys)
|
rs372221218
|
0.00005
|
NM_001605.3(AARS1):c.418G>A (p.Gly140Arg)
|
rs200438841
|
0.00005
|
NM_002047.4(GARS1):c.123C>A (p.Cys41Ter)
|
rs988893052
|
0.00005
|
NM_002180.3(IGHMBP2):c.1632+4C>T
|
rs775832239
|
0.00005
|
NM_002180.3(IGHMBP2):c.1795G>A (p.Val599Met)
|
rs199770424
|
0.00005
|
NM_002180.3(IGHMBP2):c.2554G>C (p.Glu852Gln)
|
rs202143060
|
0.00005
|
NM_002180.3(IGHMBP2):c.265G>A (p.Val89Met)
|
rs1384314579
|
0.00005
|
NM_002180.3(IGHMBP2):c.2852A>C (p.Tyr951Ser)
|
rs541833561
|
0.00005
|
NM_002180.3(IGHMBP2):c.2857G>A (p.Gly953Ser)
|
rs775514650
|
0.00005
|
NM_002180.3(IGHMBP2):c.761G>A (p.Arg254His)
|
rs761191746
|
0.00005
|
NM_003680.4(YARS1):c.989C>A (p.Thr330Asn)
|
rs568526224
|
0.00005
|
NM_004990.4(MARS1):c.1091+2dup
|
rs754216322
|
0.00005
|
NM_004990.4(MARS1):c.1567A>G (p.Ile523Val)
|
rs759198038
|
0.00005
|
NM_004990.4(MARS1):c.1651T>C (p.Phe551Leu)
|
rs778475853
|
0.00005
|
NM_004990.4(MARS1):c.2024C>G (p.Thr675Ser)
|
rs776411681
|
0.00005
|
NM_004990.4(MARS1):c.2179C>T (p.Arg727Trp)
|
rs369861995
|
0.00005
|
NM_004990.4(MARS1):c.740T>C (p.Leu247Ser)
|
rs763613524
|
0.00005
|
NM_014845.6(FIG4):c.109C>T (p.Arg37Cys)
|
rs368625871
|
0.00005
|
NM_014845.6(FIG4):c.2096+3A>G
|
rs374223402
|
0.00005
|
NM_014845.6(FIG4):c.2200G>A (p.Glu734Lys)
|
rs372846619
|
0.00005
|
NM_014845.6(FIG4):c.53A>G (p.Tyr18Cys)
|
rs762687855
|
0.00005
|
NM_014845.6(FIG4):c.584A>T (p.Gln195Leu)
|
rs749696803
|
0.00005
|
NM_014845.6(FIG4):c.829A>T (p.Ser277Cys)
|
rs892208077
|
0.00005
|
NM_014874.4(MFN2):c.1460C>G (p.Thr487Ser)
|
rs142110794
|
0.00005
|
NM_014874.4(MFN2):c.179C>T (p.Thr60Met)
|
rs138345244
|
0.00005
|
NM_015271.5(TRIM2):c.561G>T (p.Gln187His)
|
rs752837955
|
0.00005
|
NM_016156.6(MTMR2):c.629A>G (p.Asp210Gly)
|
rs753316100
|
0.00005
|
NM_016156.6(MTMR2):c.80G>C (p.Ser27Thr)
|
rs879253940
|
0.00005
|
NM_018972.4(GDAP1):c.1006G>T (p.Ala336Ser)
|
rs140811185
|
0.00005
|
NM_020631.6(PLEKHG5):c.1507G>C (p.Glu503Gln)
|
rs868161574
|
0.00005
|
NM_020631.6(PLEKHG5):c.2172C>T (p.Gly724=)
|
rs759430357
|
0.00005
|
NM_020631.6(PLEKHG5):c.2326G>A (p.Asp776Asn)
|
rs542531545
|
0.00005
|
NM_020631.6(PLEKHG5):c.2569C>T (p.Arg857Cys)
|
rs193245630
|
0.00005
|
NM_020631.6(PLEKHG5):c.2864A>G (p.Lys955Arg)
|
rs771066341
|
0.00005
|
NM_020631.6(PLEKHG5):c.638C>T (p.Ala213Val)
|
rs367543633
|
0.00005
|
NM_020631.6(PLEKHG5):c.654G>C (p.Gln218His)
|
rs909536143
|
0.00005
|
NM_021625.5(TRPV4):c.1063C>T (p.Arg355Cys)
|
rs143604694
|
0.00005
|
NM_021625.5(TRPV4):c.1846C>T (p.Arg616Ter)
|
rs545966662
|
0.00005
|
NM_021625.5(TRPV4):c.202C>T (p.Arg68Cys)
|
rs199624080
|
0.00005
|
NM_021625.5(TRPV4):c.2270G>A (p.Arg757His)
|
rs143835743
|
0.00005
|
NM_021625.5(TRPV4):c.847T>A (p.Tyr283Asn)
|
rs200210023
|
0.00005
|
NM_021629.4(GNB4):c.598G>A (p.Val200Ile)
|
rs775578986
|
0.00005
|
NM_021629.4(GNB4):c.910C>T (p.Arg304Cys)
|
rs201776673
|
0.00005
|
NM_022489.4(INF2):c.1950-3C>A
|
rs777132952
|
0.00005
|
NM_024577.4(SH3TC2):c.2257C>T (p.Arg753Trp)
|
rs530824367
|
0.00005
|
NM_024577.4(SH3TC2):c.2348C>T (p.Ala783Val)
|
rs377372640
|
0.00005
|
NM_030962.4(SBF2):c.1210C>T (p.Leu404Phe)
|
rs764058215
|
0.00005
|
NM_030962.4(SBF2):c.2593C>A (p.Leu865Ile)
|
rs371380984
|
0.00005
|
NM_030962.4(SBF2):c.2954A>T (p.Asp985Val)
|
rs143883319
|
0.00005
|
NM_030962.4(SBF2):c.3758C>T (p.Thr1253Ile)
|
rs368392902
|
0.00005
|
NM_030962.4(SBF2):c.4039C>T (p.Arg1347Trp)
|
rs750938785
|
0.00005
|
NM_030962.4(SBF2):c.4563A>T (p.Leu1521Phe)
|
rs148988271
|
0.00005
|
NM_030973.4(MED25):c.1841C>T (p.Pro614Leu)
|
rs201294692
|
0.00005
|
NM_170707.4(LMNA):c.1488G>A (p.Thr496=)
|
rs375516745
|
0.00005
|
NM_170707.4(LMNA):c.329G>A (p.Arg110His)
|
rs556237236
|
0.00005
|
NM_181882.3(PRX):c.1837G>A (p.Val613Met)
|
rs773222045
|
0.00005
|
NM_181882.3(PRX):c.2164A>G (p.Met722Val)
|
rs376309142
|
0.00005
|
NM_181882.3(PRX):c.2468C>T (p.Ala823Val)
|
rs780212559
|
0.00005
|
NM_181882.3(PRX):c.296C>G (p.Thr99Ser)
|
rs561203828
|
0.00005
|
NM_181882.3(PRX):c.3238C>T (p.Arg1080Cys)
|
rs200045096
|
0.00005
|
NM_181882.3(PRX):c.3239G>A (p.Arg1080His)
|
rs762213719
|
0.00005
|
NM_181882.3(PRX):c.3422C>T (p.Ala1141Val)
|
rs201233076
|
0.00005
|
NM_181882.3(PRX):c.3809G>A (p.Arg1270His)
|
rs775221457
|
0.00005
|
NM_181882.3(PRX):c.4231C>T (p.Arg1411Cys)
|
rs533966999
|
0.00005
|
NM_181882.3(PRX):c.4376C>T (p.Ala1459Val)
|
rs373051724
|
0.00005
|
NM_181882.3(PRX):c.848T>G (p.Val283Gly)
|
rs776556523
|
0.00005
|
NM_000263.4(NAGLU):c.1073C>T (p.Pro358Leu)
|
rs368687817
|
0.00004
|
NM_000263.4(NAGLU):c.203G>A (p.Gly68Asp)
|
rs929286583
|
0.00004
|
NM_000263.4(NAGLU):c.2185A>C (p.Lys729Gln)
|
rs144807822
|
0.00004
|
NM_000263.4(NAGLU):c.569A>G (p.Asn190Ser)
|
rs375458666
|
0.00004
|
NM_001005361.3(DNM2):c.1373G>A (p.Arg458Gln)
|
rs375653221
|
0.00004
|
NM_001005361.3(DNM2):c.1456A>G (p.Ile486Val)
|
rs758246840
|
0.00004
|
NM_001005361.3(DNM2):c.1990G>A (p.Val664Met)
|
rs757366208
|
0.00004
|
NM_001005361.3(DNM2):c.2237C>T (p.Thr746Met)
|
rs202136528
|
0.00004
|
NM_001005361.3(DNM2):c.2276G>A (p.Ser759Asn)
|
rs879254300
|
0.00004
|
NM_001005361.3(DNM2):c.497G>A (p.Arg166Gln)
|
rs200002469
|
0.00004
|
NM_001005361.3(DNM2):c.869G>A (p.Arg290Gln)
|
rs117398902
|
0.00004
|
NM_001005373.4(LRSAM1):c.1013G>A (p.Arg338Gln)
|
rs762000052
|
0.00004
|
NM_001005373.4(LRSAM1):c.1141C>T (p.Arg381Trp)
|
rs763390117
|
0.00004
|
NM_001005373.4(LRSAM1):c.1145G>A (p.Arg382Gln)
|
rs369596799
|
0.00004
|
NM_001005373.4(LRSAM1):c.1280G>A (p.Arg427Gln)
|
rs200963472
|
0.00004
|
NM_001005373.4(LRSAM1):c.136T>C (p.Phe46Leu)
|
rs546739304
|
0.00004
|
NM_001005373.4(LRSAM1):c.1514C>T (p.Ser505Leu)
|
rs146106537
|
0.00004
|
NM_001005373.4(LRSAM1):c.16C>T (p.Arg6Trp)
|
rs140467743
|
0.00004
|
NM_001005373.4(LRSAM1):c.1757A>G (p.Tyr586Cys)
|
rs768302528
|
0.00004
|
NM_001005373.4(LRSAM1):c.1781G>A (p.Arg594His)
|
rs537838691
|
0.00004
|
NM_001005373.4(LRSAM1):c.1837G>A (p.Val613Ile)
|
rs746831085
|
0.00004
|
NM_001005373.4(LRSAM1):c.1877T>G (p.Val626Gly)
|
rs574202204
|
0.00004
|
NM_001005373.4(LRSAM1):c.1905C>G (p.Ile635Met)
|
rs369161790
|
0.00004
|
NM_001005373.4(LRSAM1):c.2152C>T (p.Arg718Cys)
|
rs368202093
|
0.00004
|
NM_001005373.4(LRSAM1):c.252+3A>G
|
rs764331245
|
0.00004
|
NM_001005373.4(LRSAM1):c.392C>T (p.Thr131Ile)
|
rs772202137
|
0.00004
|
NM_001005373.4(LRSAM1):c.44G>A (p.Arg15Gln)
|
rs368646898
|
0.00004
|
NM_001005373.4(LRSAM1):c.484A>G (p.Ile162Val)
|
rs1039329590
|
0.00004
|
NM_001005373.4(LRSAM1):c.514G>A (p.Val172Ile)
|
rs529333601
|
0.00004
|
NM_001005373.4(LRSAM1):c.962G>A (p.Arg321Gln)
|
rs145881988
|
0.00004
|
NM_001005373.4(LRSAM1):c.992C>T (p.Thr331Met)
|
rs775480266
|
0.00004
|
NM_001122955.4(BSCL2):c.1145C>T (p.Ser382Leu)
|
rs149907021
|
0.00004
|
NM_001122955.4(BSCL2):c.1282C>T (p.Pro428Ser)
|
rs369732238
|
0.00004
|
NM_001122955.4(BSCL2):c.359A>G (p.Tyr120Cys)
|
rs370905417
|
0.00004
|
NM_001122955.4(BSCL2):c.620C>G (p.Ser207Cys)
|
rs746973203
|
0.00004
|
NM_001122955.4(BSCL2):c.934G>A (p.Val312Ile)
|
rs754683462
|
0.00004
|
NM_001303256.3(MORC2):c.1000C>G (p.Gln334Glu)
|
rs777252717
|
0.00004
|
NM_001303256.3(MORC2):c.1451G>A (p.Arg484His)
|
rs143046507
|
0.00004
|
NM_001303256.3(MORC2):c.1949C>T (p.Thr650Ile)
|
rs371710965
|
0.00004
|
NM_001303256.3(MORC2):c.2605G>A (p.Gly869Arg)
|
rs143046823
|
0.00004
|
NM_001303256.3(MORC2):c.3004G>A (p.Val1002Met)
|
rs778221935
|
0.00004
|
NM_001303256.3(MORC2):c.776G>A (p.Gly259Glu)
|
rs368260550
|
0.00004
|
NM_001303256.3(MORC2):c.976C>T (p.Arg326Trp)
|
rs558057376
|
0.00004
|
NM_001365951.3(KIF1B):c.2459T>G (p.Phe820Cys)
|
rs763979844
|
0.00004
|
NM_001365951.3(KIF1B):c.2611G>A (p.Glu871Lys)
|
rs763122049
|
0.00004
|
NM_001365951.3(KIF1B):c.2824G>A (p.Asp942Asn)
|
rs370647925
|
0.00004
|
NM_001365951.3(KIF1B):c.2986G>A (p.Val996Ile)
|
rs145596547
|
0.00004
|
NM_001365951.3(KIF1B):c.3259+3A>C
|
rs1388178227
|
0.00004
|
NM_001365951.3(KIF1B):c.3959G>A (p.Arg1320Gln)
|
rs371798689
|
0.00004
|
NM_001365951.3(KIF1B):c.4282G>A (p.Gly1428Ser)
|
rs754234374
|
0.00004
|
NM_001365951.3(KIF1B):c.4525C>T (p.Arg1509Cys)
|
rs757850683
|
0.00004
|
NM_001365951.3(KIF1B):c.4810G>A (p.Val1604Ile)
|
rs769092155
|
0.00004
|
NM_001365951.3(KIF1B):c.5324G>A (p.Arg1775His)
|
rs374303355
|
0.00004
|
NM_001370298.3(FGD4):c.2518G>A (p.Ala840Thr)
|
rs145630882
|
0.00004
|
NM_001370298.3(FGD4):c.433T>C (p.Ser145Pro)
|
rs369365466
|
0.00004
|
NM_001370298.3(FGD4):c.472T>C (p.Ser158Pro)
|
rs989660324
|
0.00004
|
NM_001376.5(DYNC1H1):c.2869-3C>T
|
rs750614475
|
0.00004
|
NM_001376.5(DYNC1H1):c.3571C>T (p.Arg1191Cys)
|
rs774198261
|
0.00004
|
NM_001376.5(DYNC1H1):c.6857+5G>A
|
rs371934648
|
0.00004
|
NM_001376.5(DYNC1H1):c.7116C>A (p.Asp2372Glu)
|
rs377242217
|
0.00004
|
NM_001540.5(HSPB1):c.364G>A (p.Gly122Ser)
|
rs780988351
|
0.00004
|
NM_001605.3(AARS1):c.1102C>T (p.Pro368Ser)
|
rs371184292
|
0.00004
|
NM_001605.3(AARS1):c.1361G>T (p.Gly454Val)
|
rs761208550
|
0.00004
|
NM_001605.3(AARS1):c.1420C>T (p.Arg474Trp)
|
rs377163632
|
0.00004
|
NM_001605.3(AARS1):c.1528C>T (p.Arg510Cys)
|
rs369797061
|
0.00004
|
NM_001605.3(AARS1):c.1786-5T>C
|
rs77814513
|
0.00004
|
NM_001605.3(AARS1):c.1897C>T (p.Arg633Cys)
|
rs758423103
|
0.00004
|
NM_001605.3(AARS1):c.2548G>A (p.Asp850Asn)
|
rs772849771
|
0.00004
|
NM_001605.3(AARS1):c.2552G>A (p.Ser851Asn)
|
rs368011194
|
0.00004
|
NM_001605.3(AARS1):c.2681A>G (p.Asn894Ser)
|
rs775024070
|
0.00004
|
NM_001605.3(AARS1):c.343T>C (p.Cys115Arg)
|
rs773582597
|
0.00004
|
NM_001605.3(AARS1):c.592C>T (p.Arg198Trp)
|
rs753033177
|
0.00004
|
NM_001605.3(AARS1):c.601G>A (p.Ala201Thr)
|
rs760716722
|
0.00004
|
NM_001605.3(AARS1):c.959G>A (p.Arg320His)
|
rs557600847
|
0.00004
|
NM_002047.4(GARS1):c.1219G>A (p.Gly407Ser)
|
rs370650205
|
0.00004
|
NM_002047.4(GARS1):c.1694T>A (p.Leu565Gln)
|
rs200726600
|
0.00004
|
NM_002047.4(GARS1):c.1779C>A (p.Phe593Leu)
|
rs372368483
|
0.00004
|
NM_002047.4(GARS1):c.1991T>C (p.Ile664Thr)
|
rs1064797334
|
0.00004
|
NM_002047.4(GARS1):c.324+3G>A
|
rs372776194
|
0.00004
|
NM_002047.4(GARS1):c.3G>T (p.Met1Ile)
|
rs781520666
|
0.00004
|
NM_002047.4(GARS1):c.757G>A (p.Glu253Lys)
|
rs760051768
|
0.00004
|
NM_002047.4(GARS1):c.782A>G (p.Tyr261Cys)
|
rs780902152
|
0.00004
|
NM_002180.3(IGHMBP2):c.128G>A (p.Arg43Gln)
|
rs1021399630
|
0.00004
|
NM_002180.3(IGHMBP2):c.1340C>G (p.Ala447Gly)
|
rs144240271
|
0.00004
|
NM_002180.3(IGHMBP2):c.1419G>A (p.Arg473=)
|
rs750407517
|
0.00004
|
NM_002180.3(IGHMBP2):c.1546C>T (p.Arg516Cys)
|
rs757425203
|
0.00004
|
NM_002180.3(IGHMBP2):c.217G>A (p.Gly73Arg)
|
rs376644749
|
0.00004
|
NM_002180.3(IGHMBP2):c.2317G>A (p.Gly773Arg)
|
rs754559345
|
0.00004
|
NM_002180.3(IGHMBP2):c.2495C>T (p.Thr832Met)
|
rs751046981
|
0.00004
|
NM_002180.3(IGHMBP2):c.2531C>T (p.Ala844Val)
|
rs371546836
|
0.00004
|
NM_002180.3(IGHMBP2):c.2646C>A (p.Asp882Glu)
|
rs372629862
|
0.00004
|
NM_002180.3(IGHMBP2):c.2713G>A (p.Gly905Ser)
|
rs772387164
|
0.00004
|
NM_002180.3(IGHMBP2):c.2798G>T (p.Gly933Val)
|
rs759609027
|
0.00004
|
NM_002180.3(IGHMBP2):c.389G>A (p.Arg130Gln)
|
rs150123428
|
0.00004
|
NM_002180.3(IGHMBP2):c.742G>A (p.Val248Met)
|
rs201112136
|
0.00004
|
NM_002180.3(IGHMBP2):c.89C>T (p.Ser30Phe)
|
rs772945179
|
0.00004
|
NM_003680.4(YARS1):c.1435G>A (p.Glu479Lys)
|
rs142142194
|
0.00004
|
NM_003680.4(YARS1):c.221C>T (p.Ala74Val)
|
rs1429267110
|
0.00004
|
NM_004637.6(RAB7A):c.568A>G (p.Ile190Val)
|
rs147480945
|
0.00004
|
NM_004990.4(MARS1):c.1337C>T (p.Ser446Leu)
|
rs562565076
|
0.00004
|
NM_004990.4(MARS1):c.1448G>A (p.Arg483His)
|
rs779123068
|
0.00004
|
NM_004990.4(MARS1):c.1459C>T (p.Arg487Trp)
|
rs551633010
|
0.00004
|
NM_004990.4(MARS1):c.2053G>A (p.Val685Ile)
|
rs558631075
|
0.00004
|
NM_004990.4(MARS1):c.2446C>T (p.Arg816Cys)
|
rs368028253
|
0.00004
|
NM_004990.4(MARS1):c.2569C>T (p.Arg857Ter)
|
rs768234938
|
0.00004
|
NM_004990.4(MARS1):c.266C>T (p.Ala89Val)
|
rs781061568
|
0.00004
|
NM_004990.4(MARS1):c.353G>A (p.Arg118Gln)
|
rs141397530
|
0.00004
|
NM_004990.4(MARS1):c.478G>A (p.Ala160Thr)
|
rs764006401
|
0.00004
|
NM_004990.4(MARS1):c.650C>T (p.Thr217Ile)
|
rs759101321
|
0.00004
|
NM_004990.4(MARS1):c.823G>A (p.Val275Ile)
|
rs1017657436
|
0.00004
|
NM_004990.4(MARS1):c.854T>C (p.Ile285Thr)
|
rs141105798
|
0.00004
|
NM_004990.4(MARS1):c.988C>A (p.Gln330Lys)
|
rs745584505
|
0.00004
|
NM_005391.5(PDK3):c.820G>A (p.Val274Ile)
|
rs773597771
|
0.00004
|
NM_006096.4(NDRG1):c.1082G>A (p.Arg361His)
|
rs754767167
|
0.00004
|
NM_006096.4(NDRG1):c.109A>T (p.Ile37Phe)
|
rs200046476
|
0.00004
|
NM_006096.4(NDRG1):c.304G>A (p.Gly102Ser)
|
rs200433822
|
0.00004
|
NM_006158.5(NEFL):c.1310G>A (p.Arg437His)
|
rs369991241
|
0.00004
|
NM_006158.5(NEFL):c.215A>C (p.Asp72Ala)
|
rs777547427
|
0.00004
|
NM_006158.5(NEFL):c.677T>C (p.Val226Ala)
|
rs1586128391
|
0.00004
|
NM_014365.3(HSPB8):c.229G>A (p.Ala77Thr)
|
rs752044307
|
0.00004
|
NM_014365.3(HSPB8):c.523T>G (p.Ser175Ala)
|
rs1000728639
|
0.00004
|
NM_014845.6(FIG4):c.1091T>A (p.Met364Lys)
|
rs772677048
|
0.00004
|
NM_014845.6(FIG4):c.1220C>T (p.Pro407Leu)
|
rs769415369
|
0.00004
|
NM_014845.6(FIG4):c.1405G>A (p.Gly469Arg)
|
rs201742496
|
0.00004
|
NM_014845.6(FIG4):c.1601A>G (p.Tyr534Cys)
|
rs749672655
|
0.00004
|
NM_014845.6(FIG4):c.2080A>G (p.Met694Val)
|
rs143531641
|
0.00004
|
NM_014845.6(FIG4):c.2095C>T (p.Arg699Cys)
|
rs764799053
|
0.00004
|
NM_014845.6(FIG4):c.2147G>A (p.Arg716His)
|
rs758496638
|
0.00004
|
NM_014845.6(FIG4):c.2323C>T (p.Arg775Cys)
|
rs745511182
|
0.00004
|
NM_014845.6(FIG4):c.266C>T (p.Ala89Val)
|
rs763532414
|
0.00004
|
NM_014845.6(FIG4):c.2704A>G (p.Ile902Val)
|
rs143685038
|
0.00004
|
NM_014845.6(FIG4):c.422G>A (p.Arg141Gln)
|
rs762663195
|
0.00004
|
NM_014845.6(FIG4):c.446+4T>A
|
rs956953729
|
0.00004
|
NM_014845.6(FIG4):c.446+5G>C
|
rs370857139
|
0.00004
|
NM_014845.6(FIG4):c.794G>A (p.Arg265Gln)
|
rs768713956
|
0.00004
|
NM_014874.4(MFN2):c.1108G>C (p.Glu370Gln)
|
rs377402479
|
0.00004
|
NM_014874.4(MFN2):c.1528C>T (p.Arg510Trp)
|
rs146092040
|
0.00004
|
NM_014874.4(MFN2):c.1762C>T (p.Pro588Ser)
|
rs771043011
|
0.00004
|
NM_014874.4(MFN2):c.58C>T (p.His20Tyr)
|
rs201715603
|
0.00004
|
NM_015271.5(TRIM2):c.1349G>A (p.Arg450Gln)
|
rs777541972
|
0.00004
|
NM_015271.5(TRIM2):c.1834C>T (p.Arg612Cys)
|
rs770933241
|
0.00004
|
NM_015271.5(TRIM2):c.1990A>G (p.Ile664Val)
|
rs140853898
|
0.00004
|
NM_015271.5(TRIM2):c.445G>A (p.Asp149Asn)
|
rs140886410
|
0.00004
|
NM_015271.5(TRIM2):c.756A>C (p.Glu252Asp)
|
rs138228404
|
0.00004
|
NM_015271.5(TRIM2):c.962G>A (p.Arg321Gln)
|
rs368629463
|
0.00004
|
NM_016156.6(MTMR2):c.262+4C>T
|
rs760282236
|
0.00004
|
NM_016156.6(MTMR2):c.35C>T (p.Ser12Phe)
|
rs755619139
|
0.00004
|
NM_018972.4(GDAP1):c.248G>C (p.Gly83Ala)
|
rs371138642
|
0.00004
|
NM_020631.6(PLEKHG5):c.100G>A (p.Ala34Thr)
|
rs760113279
|
0.00004
|
NM_020631.6(PLEKHG5):c.1145G>C (p.Arg382Pro)
|
rs1020039192
|
0.00004
|
NM_020631.6(PLEKHG5):c.1729G>A (p.Ala577Thr)
|
rs143545780
|
0.00004
|
NM_020631.6(PLEKHG5):c.2149G>A (p.Glu717Lys)
|
rs184242303
|
0.00004
|
NM_020631.6(PLEKHG5):c.2720T>C (p.Leu907Pro)
|
rs764378556
|
0.00004
|
NM_020631.6(PLEKHG5):c.430C>T (p.Arg144Cys)
|
rs778272514
|
0.00004
|
NM_020631.6(PLEKHG5):c.571C>T (p.Arg191Trp)
|
rs183712624
|
0.00004
|
NM_020631.6(PLEKHG5):c.793C>T (p.Arg265Trp)
|
rs879253921
|
0.00004
|
NM_020631.6(PLEKHG5):c.823G>A (p.Gly275Ser)
|
rs201267486
|
0.00004
|
NM_020631.6(PLEKHG5):c.916G>A (p.Asp306Asn)
|
rs781614887
|
0.00004
|
NM_021625.5(TRPV4):c.1039G>T (p.Asp347Tyr)
|
rs1006063188
|
0.00004
|
NM_021625.5(TRPV4):c.1175G>A (p.Arg392Gln)
|
rs770364304
|
0.00004
|
NM_021625.5(TRPV4):c.1543G>T (p.Val515Phe)
|
rs777901220
|
0.00004
|
NM_021625.5(TRPV4):c.190C>T (p.Arg64Ter)
|
rs372452565
|
0.00004
|
NM_021625.5(TRPV4):c.656G>A (p.Arg219His)
|
rs767331924
|
0.00004
|
NM_021625.5(TRPV4):c.711A>G (p.Arg237=)
|
rs927188562
|
0.00004
|
NM_021629.4(GNB4):c.911G>A (p.Arg304His)
|
rs771664047
|
0.00004
|
NM_022489.4(INF2):c.1183G>A (p.Glu395Lys)
|
rs374769850
|
0.00004
|
NM_022489.4(INF2):c.2418+3G>A
|
rs748896420
|
0.00004
|
NM_022489.4(INF2):c.3461A>T (p.Asp1154Val)
|
rs753263522
|
0.00004
|
NM_022489.4(INF2):c.3719A>G (p.Asn1240Ser)
|
rs1306025921
|
0.00004
|
NM_022489.4(INF2):c.3727A>G (p.Lys1243Glu)
|
rs1026924897
|
0.00004
|
NM_024577.4(SH3TC2):c.1318C>T (p.Arg440Cys)
|
rs768012192
|
0.00004
|
NM_024577.4(SH3TC2):c.181C>T (p.Arg61Cys)
|
rs773087313
|
0.00004
|
NM_024577.4(SH3TC2):c.1901G>C (p.Arg634Thr)
|
rs1293958398
|
0.00004
|
NM_024577.4(SH3TC2):c.1922G>A (p.Arg641His)
|
rs199991156
|
0.00004
|
NM_024577.4(SH3TC2):c.265C>T (p.Arg89Cys)
|
rs142488510
|
0.00004
|
NM_024577.4(SH3TC2):c.32G>A (p.Arg11Gln)
|
rs558800325
|
0.00004
|
NM_024577.4(SH3TC2):c.3610A>G (p.Lys1204Glu)
|
rs571409696
|
0.00004
|
NM_024577.4(SH3TC2):c.3611A>G (p.Lys1204Arg)
|
rs143436632
|
0.00004
|
NM_024577.4(SH3TC2):c.3675+5G>C
|
rs1302647300
|
0.00004
|
NM_024577.4(SH3TC2):c.3736G>A (p.Asp1246Asn)
|
rs753142542
|
0.00004
|
NM_024577.4(SH3TC2):c.86C>T (p.Ser29Leu)
|
rs559570623
|
0.00004
|
NM_030962.4(SBF2):c.1067G>A (p.Arg356Gln)
|
rs188588431
|
0.00004
|
NM_030962.4(SBF2):c.136G>C (p.Glu46Gln)
|
rs878855130
|
0.00004
|
NM_030962.4(SBF2):c.1559G>A (p.Arg520Gln)
|
rs546485749
|
0.00004
|
NM_030962.4(SBF2):c.2164C>T (p.Arg722Cys)
|
rs753111342
|
0.00004
|
NM_030962.4(SBF2):c.2183G>C (p.Ser728Thr)
|
rs751653396
|
0.00004
|
NM_030962.4(SBF2):c.2883G>C (p.Gln961His)
|
rs768147206
|
0.00004
|
NM_030962.4(SBF2):c.2891A>G (p.Gln964Arg)
|
rs747309148
|
0.00004
|
NM_030962.4(SBF2):c.3163A>G (p.Ile1055Val)
|
rs142891020
|
0.00004
|
NM_030962.4(SBF2):c.3169C>T (p.Arg1057Trp)
|
rs536949808
|
0.00004
|
NM_030962.4(SBF2):c.3283A>G (p.Ser1095Gly)
|
rs2942402
|
0.00004
|
NM_030962.4(SBF2):c.3845C>T (p.Ser1282Phe)
|
rs1442358051
|
0.00004
|
NM_030962.4(SBF2):c.3865C>T (p.Arg1289Trp)
|
rs145107442
|
0.00004
|
NM_030962.4(SBF2):c.4038C>G (p.Ile1346Met)
|
rs752638300
|
0.00004
|
NM_030962.4(SBF2):c.4127C>T (p.Ala1376Val)
|
rs922840746
|
0.00004
|
NM_030962.4(SBF2):c.4523G>A (p.Arg1508His)
|
rs770619905
|
0.00004
|
NM_030973.4(MED25):c.1076C>T (p.Thr359Met)
|
rs750201507
|
0.00004
|
NM_030973.4(MED25):c.1873G>A (p.Ala625Thr)
|
rs1038939766
|
0.00004
|
NM_030973.4(MED25):c.1964C>T (p.Pro655Leu)
|
rs202187834
|
0.00004
|
NM_030973.4(MED25):c.2209G>A (p.Val737Ile)
|
rs767118345
|
0.00004
|
NM_030973.4(MED25):c.232C>G (p.Pro78Ala)
|
rs773539397
|
0.00004
|
NM_030973.4(MED25):c.309C>A (p.Phe103Leu)
|
rs918394135
|
0.00004
|
NM_030973.4(MED25):c.4G>C (p.Val2Leu)
|
rs780512266
|
0.00004
|
NM_030973.4(MED25):c.800C>T (p.Pro267Leu)
|
rs757939861
|
0.00004
|
NM_170707.4(LMNA):c.1189C>T (p.Arg397Cys)
|
rs374726751
|
0.00004
|
NM_170707.4(LMNA):c.1196G>A (p.Arg399His)
|
rs267607563
|
0.00004
|
NM_170707.4(LMNA):c.1556C>T (p.Thr519Ile)
|
rs753988867
|
0.00004
|
NM_170707.4(LMNA):c.1664A>G (p.Asp555Gly)
|
rs141578711
|
0.00004
|
NM_170707.4(LMNA):c.350A>G (p.Lys117Arg)
|
rs397517901
|
0.00004
|
NM_170707.4(LMNA):c.467G>A (p.Arg156His)
|
rs764475194
|
0.00004
|
NM_170707.4(LMNA):c.692A>G (p.Asn231Ser)
|
rs760388350
|
0.00004
|
NM_170707.4(LMNA):c.848A>G (p.Asn283Ser)
|
rs765241364
|
0.00004
|
NM_181882.3(PRX):c.1103G>A (p.Arg368Gln)
|
rs758888846
|
0.00004
|
NM_181882.3(PRX):c.1222C>T (p.Pro408Ser)
|
rs150244426
|
0.00004
|
NM_181882.3(PRX):c.1282G>A (p.Gly428Arg)
|
rs151110565
|
0.00004
|
NM_181882.3(PRX):c.1391G>A (p.Arg464Gln)
|
rs553211374
|
0.00004
|
NM_181882.3(PRX):c.1645C>T (p.Pro549Ser)
|
rs1397900999
|
0.00004
|
NM_181882.3(PRX):c.1936G>A (p.Glu646Lys)
|
rs750625856
|
0.00004
|
NM_181882.3(PRX):c.2243C>T (p.Pro748Leu)
|
rs111252437
|
0.00004
|
NM_181882.3(PRX):c.2260C>T (p.Arg754Trp)
|
rs372473354
|
0.00004
|
NM_181882.3(PRX):c.2464G>A (p.Glu822Lys)
|
rs772009400
|
0.00004
|
NM_181882.3(PRX):c.2620G>A (p.Ala874Thr)
|
rs145790961
|
0.00004
|
NM_181882.3(PRX):c.2677G>A (p.Glu893Lys)
|
rs201270794
|
0.00004
|
NM_181882.3(PRX):c.2690G>A (p.Arg897Gln)
|
rs752531623
|
0.00004
|
NM_181882.3(PRX):c.2731G>A (p.Val911Met)
|
rs377457671
|
0.00004
|
NM_181882.3(PRX):c.3352G>A (p.Val1118Ile)
|
rs143654708
|
0.00004
|
NM_181882.3(PRX):c.3775G>A (p.Glu1259Lys)
|
rs751742049
|
0.00004
|
NM_181882.3(PRX):c.3845C>T (p.Ser1282Leu)
|
rs753530396
|
0.00004
|
NM_181882.3(PRX):c.3906C>A (p.His1302Gln)
|
rs756103463
|
0.00004
|
NM_181882.3(PRX):c.4130G>A (p.Arg1377His)
|
rs200835105
|
0.00004
|
NM_181882.3(PRX):c.4301G>A (p.Arg1434Gln)
|
rs759435622
|
0.00004
|
NM_181882.3(PRX):c.4333A>G (p.Thr1445Ala)
|
rs368067072
|
0.00004
|
NM_181882.3(PRX):c.4349C>T (p.Pro1450Leu)
|
rs369949312
|
0.00004
|
NM_181882.3(PRX):c.466G>A (p.Val156Ile)
|
rs562267802
|
0.00004
|
NM_181882.3(PRX):c.625G>A (p.Ala209Thr)
|
rs769143653
|
0.00004
|
NM_181882.3(PRX):c.943C>T (p.Arg315Trp)
|
rs763185527
|
0.00004
|
NM_000263.4(NAGLU):c.1285G>A (p.Ala429Thr)
|
rs372165410
|
0.00003
|
NM_000263.4(NAGLU):c.1786G>T (p.Gly596Cys)
|
rs772901588
|
0.00003
|
NM_000263.4(NAGLU):c.1877G>A (p.Arg626Gln)
|
rs376545731
|
0.00003
|
NM_000263.4(NAGLU):c.2159G>A (p.Arg720Gln)
|
rs774971794
|
0.00003
|
NM_000263.4(NAGLU):c.455G>A (p.Arg152Gln)
|
rs141018386
|
0.00003
|
NM_000263.4(NAGLU):c.845C>T (p.Ala282Val)
|
rs144771528
|
0.00003
|
NM_000263.4(NAGLU):c.848C>T (p.Pro283Leu)
|
rs750625891
|
0.00003
|
NM_001005361.3(DNM2):c.1358G>A (p.Arg453Gln)
|
rs140043676
|
0.00003
|
NM_001005361.3(DNM2):c.1372C>G (p.Arg458Gly)
|
rs745748213
|
0.00003
|
NM_001005361.3(DNM2):c.1378G>A (p.Val460Ile)
|
rs143992936
|
0.00003
|
NM_001005361.3(DNM2):c.149A>G (p.Asn50Ser)
|
rs757121012
|
0.00003
|
NM_001005361.3(DNM2):c.1858T>C (p.Phe620Leu)
|
rs1274228418
|
0.00003
|
NM_001005361.3(DNM2):c.2452G>A (p.Val818Met)
|
rs755608537
|
0.00003
|
NM_001005361.3(DNM2):c.2560G>T (p.Ala854Ser)
|
rs886054141
|
0.00003
|
NM_001005361.3(DNM2):c.677C>T (p.Pro226Leu)
|
rs779734638
|
0.00003
|
NM_001005361.3(DNM2):c.700G>C (p.Val234Leu)
|
rs377159042
|
0.00003
|
NM_001005361.3(DNM2):c.890G>A (p.Arg297His)
|
rs763894364
|
0.00003
|
NM_001005361.3(DNM2):c.8A>G (p.Asn3Ser)
|
rs890297188
|
0.00003
|
NM_001005373.4(LRSAM1):c.1352C>T (p.Ala451Val)
|
rs751593173
|
0.00003
|
NM_001005373.4(LRSAM1):c.1498C>T (p.Leu500Phe)
|
rs749192098
|
0.00003
|
NM_001005373.4(LRSAM1):c.1660C>T (p.Arg554Trp)
|
rs757208185
|
0.00003
|
NM_001005373.4(LRSAM1):c.1939G>A (p.Val647Ile)
|
rs879254326
|
0.00003
|
NM_001122955.4(BSCL2):c.1168G>A (p.Glu390Lys)
|
rs141518903
|
0.00003
|
NM_001122955.4(BSCL2):c.443T>C (p.Phe148Ser)
|
rs751277966
|
0.00003
|
NM_001122955.4(BSCL2):c.773C>T (p.Pro258Leu)
|
rs769219167
|
0.00003
|
NM_001122955.4(BSCL2):c.955A>G (p.Met319Val)
|
rs369511412
|
0.00003
|
NM_001136472.2(LITAF):c.209A>G (p.Asn70Ser)
|
rs746577483
|
0.00003
|
NM_001136472.2(LITAF):c.220+4C>T
|
rs771956181
|
0.00003
|
NM_001136472.2(LITAF):c.239A>G (p.Tyr80Cys)
|
rs539627278
|
0.00003
|
NM_001136472.2(LITAF):c.457G>A (p.Ala153Thr)
|
rs543022814
|
0.00003
|
NM_001303256.3(MORC2):c.1027C>T (p.Arg343Cys)
|
rs368475981
|
0.00003
|
NM_001303256.3(MORC2):c.158-3C>T
|
rs776368889
|
0.00003
|
NM_001303256.3(MORC2):c.1605-3C>T
|
rs111618347
|
0.00003
|
NM_001303256.3(MORC2):c.1667C>T (p.Thr556Met)
|
rs776665575
|
0.00003
|
NM_001303256.3(MORC2):c.1823G>A (p.Arg608His)
|
rs781443418
|
0.00003
|
NM_001303256.3(MORC2):c.2106C>A (p.Asn702Lys)
|
rs201032497
|
0.00003
|
NM_001303256.3(MORC2):c.2192C>T (p.Pro731Leu)
|
rs760522350
|
0.00003
|
NM_001303256.3(MORC2):c.2270A>G (p.Glu757Gly)
|
rs774444542
|
0.00003
|
NM_001303256.3(MORC2):c.2634G>C (p.Gln878His)
|
rs1388475410
|
0.00003
|
NM_001303256.3(MORC2):c.2944A>G (p.Thr982Ala)
|
rs771410096
|
0.00003
|
NM_001303256.3(MORC2):c.536G>A (p.Arg179His)
|
rs541114863
|
0.00003
|
NM_001303256.3(MORC2):c.743A>G (p.Tyr248Cys)
|
rs1355363942
|
0.00003
|
NM_001303256.3(MORC2):c.919C>T (p.Arg307Trp)
|
rs772692197
|
0.00003
|
NM_001365951.3(KIF1B):c.1705A>G (p.Ile569Val)
|
rs374848403
|
0.00003
|
NM_001365951.3(KIF1B):c.2516A>G (p.Tyr839Cys)
|
rs778288202
|
0.00003
|
NM_001365951.3(KIF1B):c.2586G>A (p.Met862Ile)
|
rs199818954
|
0.00003
|
NM_001365951.3(KIF1B):c.3043G>A (p.Ala1015Thr)
|
rs200614254
|
0.00003
|
NM_001365951.3(KIF1B):c.3045G>A (p.Ala1015=)
|
rs772919031
|
0.00003
|
NM_001365951.3(KIF1B):c.3151A>G (p.Met1051Val)
|
rs765659089
|
0.00003
|
NM_001365951.3(KIF1B):c.3433C>T (p.Arg1145Cys)
|
rs1394199064
|
0.00003
|
NM_001365951.3(KIF1B):c.3628A>C (p.Asn1210His)
|
rs779559577
|
0.00003
|
NM_001365951.3(KIF1B):c.3824C>G (p.Thr1275Arg)
|
rs749610931
|
0.00003
|
NM_001365951.3(KIF1B):c.439A>G (p.Met147Val)
|
rs796287290
|
0.00003
|
NM_001365951.3(KIF1B):c.4843A>G (p.Ile1615Val)
|
rs372421679
|
0.00003
|
NM_001365951.3(KIF1B):c.5203A>G (p.Ser1735Gly)
|
rs775692548
|
0.00003
|
NM_001370298.3(FGD4):c.1586G>A (p.Ser529Asn)
|
rs781528826
|
0.00003
|
NM_001370298.3(FGD4):c.1961A>G (p.Gln654Arg)
|
rs199546503
|
0.00003
|
NM_001370298.3(FGD4):c.1975G>A (p.Ala659Thr)
|
rs750531320
|
0.00003
|
NM_001370298.3(FGD4):c.2289A>C (p.Glu763Asp)
|
rs907657345
|
0.00003
|
NM_001370298.3(FGD4):c.2425C>G (p.Leu809Val)
|
rs187012686
|
0.00003
|
NM_001370298.3(FGD4):c.2512A>G (p.Arg838Gly)
|
rs756201273
|
0.00003
|
NM_001370298.3(FGD4):c.2644G>C (p.Gly882Arg)
|
rs775920519
|
0.00003
|
NM_001370298.3(FGD4):c.461C>G (p.Pro154Arg)
|
rs371407163
|
0.00003
|
NM_001370298.3(FGD4):c.469G>A (p.Val157Ile)
|
rs755068251
|
0.00003
|
NM_001370298.3(FGD4):c.487C>T (p.Arg163Cys)
|
rs758603361
|
0.00003
|
NM_001370298.3(FGD4):c.953G>A (p.Arg318Lys)
|
rs750143546
|
0.00003
|
NM_001376.5(DYNC1H1):c.10262A>G (p.Asp3421Gly)
|
rs569322395
|
0.00003
|
NM_001376.5(DYNC1H1):c.1043C>T (p.Thr348Met)
|
rs372041146
|
0.00003
|
NM_001376.5(DYNC1H1):c.11460+4G>A
|
rs201518717
|
0.00003
|
NM_001376.5(DYNC1H1):c.11733A>T (p.Gly3911=)
|
rs1241394733
|
0.00003
|
NM_001376.5(DYNC1H1):c.2028C>G (p.His676Gln)
|
rs758895614
|
0.00003
|
NM_001376.5(DYNC1H1):c.6763G>A (p.Asp2255Asn)
|
rs376274132
|
0.00003
|
NM_001376.5(DYNC1H1):c.7394C>T (p.Ala2465Val)
|
rs1327313169
|
0.00003
|
NM_001376.5(DYNC1H1):c.851C>T (p.Ala284Val)
|
rs774677904
|
0.00003
|
NM_001540.5(HSPB1):c.379C>A (p.Arg127=)
|
rs29001571
|
0.00003
|
NM_001540.5(HSPB1):c.539C>G (p.Thr180Ser)
|
rs1422978230
|
0.00003
|
NM_001540.5(HSPB1):c.70C>A (p.Pro24Thr)
|
rs1414148792
|
0.00003
|
NM_001605.3(AARS1):c.1244A>G (p.Tyr415Cys)
|
rs373069396
|
0.00003
|
NM_001605.3(AARS1):c.1347G>A (p.Gln449=)
|
rs200557581
|
0.00003
|
NM_001605.3(AARS1):c.1421G>A (p.Arg474Gln)
|
rs202036345
|
0.00003
|
NM_001605.3(AARS1):c.1847G>A (p.Arg616His)
|
rs781270199
|
0.00003
|
NM_001605.3(AARS1):c.1969A>G (p.Asn657Asp)
|
rs749039663
|
0.00003
|
NM_001605.3(AARS1):c.2218G>C (p.Val740Leu)
|
rs749217453
|
0.00003
|
NM_001605.3(AARS1):c.2249G>A (p.Arg750Gln)
|
rs1383041194
|
0.00003
|
NM_001605.3(AARS1):c.2324C>T (p.Ser775Phe)
|
rs372602483
|
0.00003
|
NM_001605.3(AARS1):c.2752G>A (p.Glu918Lys)
|
rs778342335
|
0.00003
|
NM_001605.3(AARS1):c.391G>A (p.Glu131Lys)
|
rs769706358
|
0.00003
|
NM_001605.3(AARS1):c.503C>T (p.Pro168Leu)
|
rs763378637
|
0.00003
|
NM_001605.3(AARS1):c.525C>G (p.Phe175Leu)
|
rs369147317
|
0.00003
|
NM_001605.3(AARS1):c.542C>G (p.Thr181Arg)
|
rs202099051
|
0.00003
|
NM_001605.3(AARS1):c.713T>C (p.Ile238Thr)
|
rs372680730
|
0.00003
|
NM_001605.3(AARS1):c.937G>A (p.Gly313Ser)
|
rs141331431
|
0.00003
|
NM_002047.4(GARS1):c.163A>G (p.Met55Val)
|
rs900324585
|
0.00003
|
NM_002047.4(GARS1):c.1760C>T (p.Thr587Met)
|
rs750292154
|
0.00003
|
NM_002047.4(GARS1):c.262C>G (p.Gln88Glu)
|
rs201728920
|
0.00003
|
NM_002047.4(GARS1):c.305A>G (p.Lys102Arg)
|
rs369224847
|
0.00003
|
NM_002047.4(GARS1):c.52C>A (p.Leu18Met)
|
rs368574634
|
0.00003
|
NM_002047.4(GARS1):c.866G>A (p.Gly289Glu)
|
rs1343637666
|
0.00003
|
NM_002180.3(IGHMBP2):c.1451C>T (p.Thr484Met)
|
rs1170552394
|
0.00003
|
NM_002180.3(IGHMBP2):c.1560G>T (p.Leu520Phe)
|
rs375645505
|
0.00003
|
NM_002180.3(IGHMBP2):c.1598G>A (p.Arg533His)
|
rs369816416
|
0.00003
|
NM_002180.3(IGHMBP2):c.1605T>G (p.Ile535Met)
|
rs1225363387
|
0.00003
|
NM_002180.3(IGHMBP2):c.1723G>C (p.Val575Leu)
|
rs748775914
|
0.00003
|
NM_002180.3(IGHMBP2):c.1756+4C>T
|
rs778913429
|
0.00003
|
NM_002180.3(IGHMBP2):c.1814G>A (p.Arg605Gln)
|
rs141107419
|
0.00003
|
NM_002180.3(IGHMBP2):c.1933G>A (p.Asp645Asn)
|
rs775138577
|
0.00003
|
NM_002180.3(IGHMBP2):c.193G>T (p.Val65Phe)
|
rs920864493
|
0.00003
|
NM_002180.3(IGHMBP2):c.1966T>C (p.Ser656Pro)
|
rs755082503
|
0.00003
|
NM_002180.3(IGHMBP2):c.2035C>T (p.Arg679Trp)
|
rs371157210
|
0.00003
|
NM_002180.3(IGHMBP2):c.204G>T (p.Glu68Asp)
|
rs1470672532
|
0.00003
|
NM_002180.3(IGHMBP2):c.2287G>A (p.Glu763Lys)
|
rs768670979
|
0.00003
|
NM_002180.3(IGHMBP2):c.440G>A (p.Arg147Gln)
|
rs138448914
|
0.00003
|
NM_002180.3(IGHMBP2):c.4G>T (p.Ala2Ser)
|
rs778232785
|
0.00003
|
NM_002180.3(IGHMBP2):c.781C>T (p.Arg261Trp)
|
rs141836800
|
0.00003
|
NM_002180.3(IGHMBP2):c.808C>T (p.Arg270Cys)
|
rs201054207
|
0.00003
|
NM_002180.3(IGHMBP2):c.815T>C (p.Leu272Pro)
|
rs773582904
|
0.00003
|
NM_003680.4(YARS1):c.1154A>C (p.Asp385Ala)
|
rs1057524362
|
0.00003
|
NM_003680.4(YARS1):c.1405del (p.Phe468_Val469insTer)
|
rs777156625
|
0.00003
|
NM_003680.4(YARS1):c.1448C>T (p.Pro483Leu)
|
rs769592872
|
0.00003
|
NM_003680.4(YARS1):c.1507G>A (p.Ala503Thr)
|
rs778099655
|
0.00003
|
NM_003680.4(YARS1):c.211A>G (p.Ile71Val)
|
rs145768628
|
0.00003
|
NM_003680.4(YARS1):c.298G>A (p.Val100Met)
|
rs766704849
|
0.00003
|
NM_003680.4(YARS1):c.362C>G (p.Thr121Ser)
|
rs748842928
|
0.00003
|
NM_003680.4(YARS1):c.569A>G (p.Lys190Arg)
|
rs750198437
|
0.00003
|
NM_003680.4(YARS1):c.937G>A (p.Val313Ile)
|
rs147074773
|
0.00003
|
NM_004637.6(RAB7A):c.506T>C (p.Ile169Thr)
|
rs375630134
|
0.00003
|
NM_004637.6(RAB7A):c.602C>T (p.Ser201Leu)
|
rs866854462
|
0.00003
|
NM_004990.4(MARS1):c.1278T>G (p.Asn426Lys)
|
rs767132960
|
0.00003
|
NM_004990.4(MARS1):c.1378C>T (p.Arg460Ter)
|
rs764820125
|
0.00003
|
NM_004990.4(MARS1):c.1454G>A (p.Trp485Ter)
|
rs746422516
|
0.00003
|
NM_004990.4(MARS1):c.1673C>A (p.Pro558His)
|
rs771808261
|
0.00003
|
NM_004990.4(MARS1):c.1732G>A (p.Val578Ile)
|
rs544343105
|
0.00003
|
NM_004990.4(MARS1):c.1945A>G (p.Asn649Asp)
|
rs748955220
|
0.00003
|
NM_004990.4(MARS1):c.228G>T (p.Glu76Asp)
|
rs369313141
|
0.00003
|
NM_004990.4(MARS1):c.2477C>T (p.Pro826Leu)
|
rs138343927
|
0.00003
|
NM_004990.4(MARS1):c.365C>A (p.Thr122Asn)
|
rs201007223
|
0.00003
|
NM_004990.4(MARS1):c.751C>T (p.Arg251Trp)
|
rs765580781
|
0.00003
|
NM_005572.4(LMNA):c.1712G>A (p.Arg571His)
|
rs200917748
|
0.00003
|
NM_006096.4(NDRG1):c.1087C>T (p.Arg363Cys)
|
rs530143616
|
0.00003
|
NM_006096.4(NDRG1):c.14T>C (p.Met5Thr)
|
rs138555940
|
0.00003
|
NM_006096.4(NDRG1):c.167G>A (p.Arg56Gln)
|
rs151322132
|
0.00003
|
NM_006096.4(NDRG1):c.307G>A (p.Ala103Thr)
|
rs374160497
|
0.00003
|
NM_006096.4(NDRG1):c.345G>T (p.Met115Ile)
|
rs1345503929
|
0.00003
|
NM_006096.4(NDRG1):c.373G>A (p.Val125Ile)
|
rs200593999
|
0.00003
|
NM_006158.5(NEFL):c.1315T>A (p.Phe439Ile)
|
rs199775873
|
0.00003
|
NM_006158.5(NEFL):c.1327T>A (p.Tyr443Asn)
|
rs774761874
|
0.00003
|
NM_006158.5(NEFL):c.1391A>T (p.Glu464Val)
|
rs373274253
|
0.00003
|
NM_006158.5(NEFL):c.1585A>G (p.Lys529Glu)
|
rs773979111
|
0.00003
|
NM_006158.5(NEFL):c.1597G>C (p.Ala533Pro)
|
rs371037868
|
0.00003
|
NM_006158.5(NEFL):c.182C>T (p.Ser61Phe)
|
rs1368855205
|
0.00003
|
NM_006158.5(NEFL):c.755C>T (p.Pro252Leu)
|
rs373569840
|
0.00003
|
NM_014365.3(HSPB8):c.311G>A (p.Ser104Asn)
|
rs1036182864
|
0.00003
|
NM_014365.3(HSPB8):c.319C>T (p.Pro107Ser)
|
rs146000958
|
0.00003
|
NM_014845.6(FIG4):c.136C>T (p.Pro46Ser)
|
rs1260601343
|
0.00003
|
NM_014845.6(FIG4):c.14C>T (p.Ala5Val)
|
rs915749340
|
0.00003
|
NM_014845.6(FIG4):c.1990T>C (p.Phe664Leu)
|
rs370602258
|
0.00003
|
NM_014845.6(FIG4):c.2035C>T (p.Arg679Trp)
|
rs188910818
|
0.00003
|
NM_014845.6(FIG4):c.2146C>T (p.Arg716Cys)
|
rs139235893
|
0.00003
|
NM_014845.6(FIG4):c.2360G>A (p.Ser787Asn)
|
rs377017892
|
0.00003
|
NM_014845.6(FIG4):c.2376+5G>A
|
rs528952794
|
0.00003
|
NM_014845.6(FIG4):c.2567C>T (p.Ser856Leu)
|
rs200970494
|
0.00003
|
NM_014845.6(FIG4):c.382G>A (p.Glu128Lys)
|
rs769125243
|
0.00003
|
NM_014845.6(FIG4):c.421C>T (p.Arg141Trp)
|
rs750102036
|
0.00003
|
NM_014845.6(FIG4):c.815T>C (p.Ile272Thr)
|
rs765737780
|
0.00003
|
NM_014845.6(FIG4):c.872G>A (p.Cys291Tyr)
|
rs766829595
|
0.00003
|
NM_014845.6(FIG4):c.919G>A (p.Asp307Asn)
|
rs573441014
|
0.00003
|
NM_014874.4(MFN2):c.1171G>A (p.Glu391Lys)
|
rs756800190
|
0.00003
|
NM_014874.4(MFN2):c.1181G>A (p.Arg394His)
|
rs538243357
|
0.00003
|
NM_014874.4(MFN2):c.119A>G (p.Asn40Ser)
|
rs1354203259
|
0.00003
|
NM_014874.4(MFN2):c.1759C>T (p.Pro587Ser)
|
rs771675874
|
0.00003
|
NM_014874.4(MFN2):c.1816G>A (p.Gly606Ser)
|
rs149122641
|
0.00003
|
NM_014874.4(MFN2):c.1976G>A (p.Arg659Lys)
|
rs863224063
|
0.00003
|
NM_014874.4(MFN2):c.1988G>T (p.Arg663Leu)
|
rs766735605
|
0.00003
|
NM_014874.4(MFN2):c.2166G>C (p.Glu722Asp)
|
rs764268203
|
0.00003
|
NM_014874.4(MFN2):c.2182C>A (p.Gln728Lys)
|
rs761544980
|
0.00003
|
NM_014874.4(MFN2):c.2215G>A (p.Gly739Ser)
|
rs1402367279
|
0.00003
|
NM_014874.4(MFN2):c.765C>G (p.Ile255Met)
|
rs376327713
|
0.00003
|
NM_015271.5(TRIM2):c.1144G>T (p.Gly382Cys)
|
rs760086023
|
0.00003
|
NM_015271.5(TRIM2):c.1381G>C (p.Val461Leu)
|
rs147859999
|
0.00003
|
NM_015271.5(TRIM2):c.2132T>C (p.Ile711Thr)
|
rs772742492
|
0.00003
|
NM_015271.5(TRIM2):c.91G>A (p.Glu31Lys)
|
rs961206561
|
0.00003
|
NM_016156.6(MTMR2):c.1190C>G (p.Ala397Gly)
|
rs145714734
|
0.00003
|
NM_016156.6(MTMR2):c.1386A>G (p.Leu462=)
|
rs139369561
|
0.00003
|
NM_016156.6(MTMR2):c.1523T>C (p.Ile508Thr)
|
rs769280444
|
0.00003
|
NM_016156.6(MTMR2):c.1851G>C (p.Glu617Asp)
|
rs369804894
|
0.00003
|
NM_016156.6(MTMR2):c.185G>A (p.Arg62Lys)
|
rs528638298
|
0.00003
|
NM_016156.6(MTMR2):c.230C>T (p.Pro77Leu)
|
rs377327553
|
0.00003
|
NM_018972.4(GDAP1):c.721G>A (p.Gly241Ser)
|
rs533081002
|
0.00003
|
NM_020631.6(PLEKHG5):c.1170C>G (p.Ile390Met)
|
rs771928245
|
0.00003
|
NM_020631.6(PLEKHG5):c.1184G>A (p.Arg395His)
|
rs779612506
|
0.00003
|
NM_020631.6(PLEKHG5):c.1345A>G (p.Met449Val)
|
rs767686554
|
0.00003
|
NM_020631.6(PLEKHG5):c.161G>A (p.Ser54Asn)
|
rs376703933
|
0.00003
|
NM_020631.6(PLEKHG5):c.1736C>T (p.Pro579Leu)
|
rs757727499
|
0.00003
|
NM_020631.6(PLEKHG5):c.2131C>G (p.Gln711Glu)
|
rs761272621
|
0.00003
|
NM_020631.6(PLEKHG5):c.2432G>A (p.Arg811His)
|
rs891527256
|
0.00003
|
NM_020631.6(PLEKHG5):c.395C>T (p.Thr132Ile)
|
rs761640668
|
0.00003
|
NM_020631.6(PLEKHG5):c.607C>T (p.Arg203Cys)
|
rs1315441735
|
0.00003
|
NM_020631.6(PLEKHG5):c.73C>T (p.Arg25Trp)
|
rs377503203
|
0.00003
|
NM_020631.6(PLEKHG5):c.784G>C (p.Ala262Pro)
|
rs550362834
|
0.00003
|
NM_020631.6(PLEKHG5):c.998G>A (p.Arg333Gln)
|
rs759306471
|
0.00003
|
NM_021625.5(TRPV4):c.114T>A (p.Asn38Lys)
|
rs878853090
|
0.00003
|
NM_021625.5(TRPV4):c.1211G>A (p.Arg404His)
|
rs377257364
|
0.00003
|
NM_021625.5(TRPV4):c.1379G>A (p.Arg460Gln)
|
rs202244562
|
0.00003
|
NM_021625.5(TRPV4):c.1496C>T (p.Pro499Leu)
|
rs115358347
|
0.00003
|
NM_021625.5(TRPV4):c.1514C>T (p.Thr505Met)
|
rs375574238
|
0.00003
|
NM_021625.5(TRPV4):c.1912C>G (p.Pro638Ala)
|
rs760044422
|
0.00003
|
NM_021625.5(TRPV4):c.1981C>T (p.Arg661Cys)
|
rs772074281
|
0.00003
|
NM_021625.5(TRPV4):c.2236C>T (p.Arg746Cys)
|
rs375189134
|
0.00003
|
NM_021625.5(TRPV4):c.2513C>T (p.Pro838Leu)
|
rs140602150
|
0.00003
|
NM_021625.5(TRPV4):c.2540G>T (p.Ser847Ile)
|
rs145184680
|
0.00003
|
NM_021625.5(TRPV4):c.2584C>T (p.Arg862Cys)
|
rs149267166
|
0.00003
|
NM_021625.5(TRPV4):c.37G>T (p.Gly13Trp)
|
rs763302555
|
0.00003
|
NM_021625.5(TRPV4):c.478C>T (p.Arg160Trp)
|
rs780102339
|
0.00003
|
NM_021625.5(TRPV4):c.742C>T (p.Arg248Cys)
|
rs370289434
|
0.00003
|
NM_021629.4(GNB4):c.125G>A (p.Arg42Gln)
|
rs749082388
|
0.00003
|
NM_021629.4(GNB4):c.34G>C (p.Glu12Gln)
|
rs142308226
|
0.00003
|
NM_021629.4(GNB4):c.596T>A (p.Phe199Tyr)
|
rs760894139
|
0.00003
|
NM_021629.4(GNB4):c.86C>T (p.Thr29Met)
|
rs762114369
|
0.00003
|
NM_022489.4(INF2):c.1949+3G>A
|
rs747818846
|
0.00003
|
NM_022489.4(INF2):c.2801C>T (p.Ala934Val)
|
rs1001885245
|
0.00003
|
NM_022489.4(INF2):c.3223C>T (p.Arg1075Cys)
|
rs376685243
|
0.00003
|
NM_024577.4(SH3TC2):c.1342G>C (p.Asp448His)
|
rs587781252
|
0.00003
|
NM_024577.4(SH3TC2):c.1654G>A (p.Glu552Lys)
|
rs551953142
|
0.00003
|
NM_024577.4(SH3TC2):c.2056C>T (p.Pro686Ser)
|
rs767415595
|
0.00003
|
NM_024577.4(SH3TC2):c.2107G>A (p.Gly703Arg)
|
rs912282924
|
0.00003
|
NM_024577.4(SH3TC2):c.223C>T (p.Arg75Trp)
|
rs769679412
|
0.00003
|
NM_024577.4(SH3TC2):c.2398C>T (p.Leu800Phe)
|
rs764616291
|
0.00003
|
NM_024577.4(SH3TC2):c.2861G>A (p.Arg954Gln)
|
rs776426059
|
0.00003
|
NM_024577.4(SH3TC2):c.908C>A (p.Pro303His)
|
rs778572329
|
0.00003
|
NM_030962.4(SBF2):c.1166A>G (p.Lys389Arg)
|
rs1490002752
|
0.00003
|
NM_030962.4(SBF2):c.1573T>C (p.Cys525Arg)
|
rs746860317
|
0.00003
|
NM_030962.4(SBF2):c.190A>G (p.Thr64Ala)
|
rs374114606
|
0.00003
|
NM_030962.4(SBF2):c.2350A>G (p.Ile784Val)
|
rs758912920
|
0.00003
|
NM_030962.4(SBF2):c.2450G>A (p.Arg817Gln)
|
rs369653070
|
0.00003
|
NM_030962.4(SBF2):c.2457T>G (p.Ile819Met)
|
rs746363004
|
0.00003
|
NM_030962.4(SBF2):c.257A>G (p.Tyr86Cys)
|
rs745669920
|
0.00003
|
NM_030962.4(SBF2):c.2611-18A>G
|
rs374144072
|
0.00003
|
NM_030962.4(SBF2):c.2789C>T (p.Thr930Ile)
|
rs755578344
|
0.00003
|
NM_030962.4(SBF2):c.2807-3C>T
|
rs375252298
|
0.00003
|
NM_030962.4(SBF2):c.3170G>A (p.Arg1057Gln)
|
rs138612196
|
0.00003
|
NM_030962.4(SBF2):c.3376A>T (p.Ile1126Leu)
|
rs747669195
|
0.00003
|
NM_030962.4(SBF2):c.403-15T>G
|
rs887143579
|
0.00003
|
NM_030962.4(SBF2):c.4733A>G (p.Lys1578Arg)
|
rs775360425
|
0.00003
|
NM_030962.4(SBF2):c.4970C>T (p.Pro1657Leu)
|
rs771021009
|
0.00003
|
NM_030962.4(SBF2):c.566A>G (p.His189Arg)
|
rs764000654
|
0.00003
|
NM_030962.4(SBF2):c.56G>T (p.Gly19Val)
|
rs375560902
|
0.00003
|
NM_030962.4(SBF2):c.832T>A (p.Ser278Thr)
|
rs746749228
|
0.00003
|
NM_030962.4(SBF2):c.898A>G (p.Ile300Val)
|
rs141669540
|
0.00003
|
NM_030973.4(MED25):c.1141C>T (p.Pro381Ser)
|
rs751399299
|
0.00003
|
NM_030973.4(MED25):c.1168G>A (p.Gly390Ser)
|
rs752599816
|
0.00003
|
NM_030973.4(MED25):c.1508C>T (p.Thr503Met)
|
rs759574296
|
0.00003
|
NM_030973.4(MED25):c.2045C>T (p.Pro682Leu)
|
rs764017333
|
0.00003
|
NM_030973.4(MED25):c.2098C>T (p.Pro700Ser)
|
rs745533616
|
0.00003
|
NM_030973.4(MED25):c.764C>G (p.Ala255Gly)
|
rs763825256
|
0.00003
|
NM_030973.4(MED25):c.904C>T (p.Arg302Cys)
|
rs775122561
|
0.00003
|
NM_030973.4(MED25):c.956C>A (p.Pro319His)
|
rs139822988
|
0.00003
|
NM_170707.4(LMNA):c.1001G>A (p.Ser334Asn)
|
rs370656306
|
0.00003
|
NM_170707.4(LMNA):c.1028G>A (p.Arg343Gln)
|
rs61177390
|
0.00003
|
NM_170707.4(LMNA):c.1256G>A (p.Arg419His)
|
rs777648901
|
0.00003
|
NM_170707.4(LMNA):c.1324G>A (p.Val442Met)
|
rs368542816
|
0.00003
|
NM_170707.4(LMNA):c.1517A>C (p.His506Pro)
|
rs878855233
|
0.00003
|
NM_170707.4(LMNA):c.1756G>A (p.Val586Met)
|
rs758048062
|
0.00003
|
NM_170707.4(LMNA):c.524C>T (p.Ala175Val)
|
rs369714176
|
0.00003
|
NM_170707.4(LMNA):c.731C>T (p.Ala244Val)
|
rs1183097458
|
0.00003
|
NM_181882.3(PRX):c.1144C>G (p.Pro382Ala)
|
rs759440986
|
0.00003
|
NM_181882.3(PRX):c.1211G>A (p.Arg404Gln)
|
rs146948818
|
0.00003
|
NM_181882.3(PRX):c.1219G>T (p.Ala407Ser)
|
rs752941494
|
0.00003
|
NM_181882.3(PRX):c.1460C>T (p.Pro487Leu)
|
rs778936443
|
0.00003
|
NM_181882.3(PRX):c.1714G>A (p.Val572Met)
|
rs370979792
|
0.00003
|
NM_181882.3(PRX):c.1752G>C (p.Glu584Asp)
|
rs759029769
|
0.00003
|
NM_181882.3(PRX):c.2282C>T (p.Pro761Leu)
|
rs530370432
|
0.00003
|
NM_181882.3(PRX):c.2285A>G (p.Lys762Arg)
|
rs202165534
|
0.00003
|
NM_181882.3(PRX):c.2573A>G (p.Glu858Gly)
|
rs1017754371
|
0.00003
|
NM_181882.3(PRX):c.2790G>C (p.Lys930Asn)
|
rs758614032
|
0.00003
|
NM_181882.3(PRX):c.2816C>T (p.Ser939Leu)
|
rs761769929
|
0.00003
|
NM_181882.3(PRX):c.3041T>C (p.Leu1014Pro)
|
rs766119564
|
0.00003
|
NM_181882.3(PRX):c.3508G>A (p.Ala1170Thr)
|
rs759410504
|
0.00003
|
NM_181882.3(PRX):c.3587G>C (p.Gly1196Ala)
|
rs199640290
|
0.00003
|
NM_181882.3(PRX):c.3707C>T (p.Ala1236Val)
|
rs142501082
|
0.00003
|
NM_181882.3(PRX):c.3853G>A (p.Gly1285Arg)
|
rs374370759
|
0.00003
|
NM_181882.3(PRX):c.3866C>A (p.Ala1289Asp)
|
rs752531823
|
0.00003
|
NM_181882.3(PRX):c.4121T>G (p.Val1374Gly)
|
rs773512610
|
0.00003
|
NM_181882.3(PRX):c.4124G>A (p.Arg1375Gln)
|
rs762053224
|
0.00003
|
NM_181882.3(PRX):c.4157C>A (p.Pro1386His)
|
rs372582520
|
0.00003
|
NM_181882.3(PRX):c.4270G>C (p.Gly1424Arg)
|
rs754032938
|
0.00003
|
NM_181882.3(PRX):c.4318G>A (p.Val1440Met)
|
rs138437458
|
0.00003
|
NM_181882.3(PRX):c.4334C>T (p.Thr1445Ile)
|
rs746338096
|
0.00003
|
NM_181882.3(PRX):c.559C>T (p.Arg187Cys)
|
rs768929130
|
0.00003
|
NM_181882.3(PRX):c.716C>T (p.Pro239Leu)
|
rs528907584
|
0.00003
|
NM_181882.3(PRX):c.793G>A (p.Gly265Ser)
|
rs1298913150
|
0.00003
|
NM_181882.3(PRX):c.80C>A (p.Thr27Asn)
|
rs1291881750
|
0.00003
|
NM_181882.3(PRX):c.847G>A (p.Val283Met)
|
rs535087433
|
0.00003
|
NM_181882.3(PRX):c.899T>C (p.Leu300Ser)
|
rs748380935
|
0.00003
|
NM_000263.4(NAGLU):c.1000G>A (p.Val334Ile)
|
rs749140168
|
0.00002
|
NM_000263.4(NAGLU):c.1559G>A (p.Arg520Gln)
|
rs1207098238
|
0.00002
|
NM_000263.4(NAGLU):c.1703T>G (p.Val568Gly)
|
rs777283283
|
0.00002
|
NM_000263.4(NAGLU):c.647C>G (p.Pro216Arg)
|
rs750276054
|
0.00002
|
NM_000263.4(NAGLU):c.682C>T (p.Arg228Trp)
|
rs368907396
|
0.00002
|
NM_001005361.3(DNM2):c.1196+710G>A
|
rs140208362
|
0.00002
|
NM_001005361.3(DNM2):c.1641C>A (p.Ala547=)
|
rs538253489
|
0.00002
|
NM_001005361.3(DNM2):c.1786G>A (p.Val596Ile)
|
rs763762422
|
0.00002
|
NM_001005361.3(DNM2):c.1912G>A (p.Ala638Thr)
|
rs587778236
|
0.00002
|
NM_001005361.3(DNM2):c.2195C>T (p.Ala732Val)
|
rs375577182
|
0.00002
|
NM_001005361.3(DNM2):c.2291+5G>A
|
rs747057769
|
0.00002
|
NM_001005361.3(DNM2):c.2309G>A (p.Arg770Gln)
|
rs768817257
|
0.00002
|
NM_001005361.3(DNM2):c.2327A>C (p.His776Pro)
|
rs1277774683
|
0.00002
|
NM_001005361.3(DNM2):c.2328C>G (p.His776Gln)
|
rs766387630
|
0.00002
|
NM_001005361.3(DNM2):c.414G>A (p.Pro138=)
|
rs1222869455
|
0.00002
|
NM_001005361.3(DNM2):c.5G>A (p.Gly2Asp)
|
rs1375606719
|
0.00002
|
NM_001005361.3(DNM2):c.676C>T (p.Pro226Ser)
|
rs757892950
|
0.00002
|
NM_001005361.3(DNM2):c.797G>A (p.Arg266Gln)
|
rs754507545
|
0.00002
|
NM_001005361.3(DNM2):c.812G>A (p.Arg271His)
|
rs781546006
|
0.00002
|
NM_001005361.3(DNM2):c.889C>T (p.Arg297Cys)
|
rs760254039
|
0.00002
|
NM_001005361.3(DNM2):c.919C>G (p.Leu307Val)
|
rs755458594
|
0.00002
|
NM_001005373.4(LRSAM1):c.1043+5G>A
|
rs780868977
|
0.00002
|
NM_001005373.4(LRSAM1):c.1058C>G (p.Ser353Cys)
|
rs748144981
|
0.00002
|
NM_001005373.4(LRSAM1):c.1142G>A (p.Arg381Gln)
|
rs145877456
|
0.00002
|
NM_001005373.4(LRSAM1):c.1147C>T (p.Arg383Cys)
|
rs1006024672
|
0.00002
|
NM_001005373.4(LRSAM1):c.1162G>A (p.Ala388Thr)
|
rs138715791
|
0.00002
|
NM_001005373.4(LRSAM1):c.1239G>T (p.Leu413Phe)
|
rs751314768
|
0.00002
|
NM_001005373.4(LRSAM1):c.1541T>A (p.Leu514Gln)
|
rs758290295
|
0.00002
|
NM_001005373.4(LRSAM1):c.1714C>T (p.Arg572Cys)
|
rs1359751742
|
0.00002
|
NM_001005373.4(LRSAM1):c.1849G>T (p.Gly617Cys)
|
rs770758847
|
0.00002
|
NM_001005373.4(LRSAM1):c.2009T>C (p.Val670Ala)
|
rs748185533
|
0.00002
|
NM_001005373.4(LRSAM1):c.2128C>T (p.Arg710Cys)
|
rs746213887
|
0.00002
|
NM_001005373.4(LRSAM1):c.23G>A (p.Arg8Gln)
|
rs777784051
|
0.00002
|
NM_001005373.4(LRSAM1):c.457C>T (p.Arg153Cys)
|
rs772739566
|
0.00002
|
NM_001005373.4(LRSAM1):c.49C>T (p.Arg17Cys)
|
rs770259167
|
0.00002
|
NM_001005373.4(LRSAM1):c.50G>A (p.Arg17His)
|
rs776039231
|
0.00002
|
NM_001005373.4(LRSAM1):c.695G>A (p.Arg232Gln)
|
rs778692919
|
0.00002
|
NM_001005373.4(LRSAM1):c.698A>C (p.Asp233Ala)
|
rs747872731
|
0.00002
|
NM_001005373.4(LRSAM1):c.835C>T (p.Arg279Trp)
|
rs766288153
|
0.00002
|
NM_001005373.4(LRSAM1):c.904-4del
|
rs757987823
|
0.00002
|
NM_001005373.4(LRSAM1):c.914G>A (p.Arg305Gln)
|
rs201329646
|
0.00002
|
NM_001005373.4(LRSAM1):c.955G>A (p.Ala319Thr)
|
rs756492485
|
0.00002
|
NM_001122955.4(BSCL2):c.1034G>A (p.Arg345Gln)
|
rs202072835
|
0.00002
|
NM_001122955.4(BSCL2):c.1193C>G (p.Pro398Arg)
|
rs778931376
|
0.00002
|
NM_001122955.4(BSCL2):c.1288C>T (p.Pro430Ser)
|
rs377310581
|
0.00002
|
NM_001122955.4(BSCL2):c.199A>C (p.Asn67His)
|
rs1057524897
|
0.00002
|
NM_001122955.4(BSCL2):c.469A>G (p.Lys157Glu)
|
rs773548699
|
0.00002
|
NM_001122955.4(BSCL2):c.610A>G (p.Ile204Val)
|
rs759642646
|
0.00002
|
NM_001122955.4(BSCL2):c.632T>C (p.Val211Ala)
|
rs1291966839
|
0.00002
|
NM_001122955.4(BSCL2):c.809G>A (p.Arg270His)
|
rs763884653
|
0.00002
|
NM_001122955.4(BSCL2):c.835C>T (p.Arg279Cys)
|
rs759231362
|
0.00002
|
NM_001122955.4(BSCL2):c.986G>A (p.Arg329Gln)
|
rs771322168
|
0.00002
|
NM_001136472.2(LITAF):c.100C>A (p.Pro34Thr)
|
rs759905004
|
0.00002
|
NM_001136472.2(LITAF):c.115C>T (p.Pro39Ser)
|
rs375202318
|
0.00002
|
NM_001136472.2(LITAF):c.378-3C>T
|
rs774213197
|
0.00002
|
NM_001136472.2(LITAF):c.410G>A (p.Cys137Tyr)
|
rs144232569
|
0.00002
|
NM_001136472.2(LITAF):c.418G>A (p.Ala140Thr)
|
rs754821950
|
0.00002
|
NM_001136472.2(LITAF):c.479G>A (p.Arg160His)
|
rs864622744
|
0.00002
|
NM_001303256.3(MORC2):c.1118A>G (p.Asn373Ser)
|
rs762901266
|
0.00002
|
NM_001303256.3(MORC2):c.158-10T>G
|
rs543329880
|
0.00002
|
NM_001303256.3(MORC2):c.187A>T (p.Met63Leu)
|
rs748092969
|
0.00002
|
NM_001303256.3(MORC2):c.2018C>G (p.Ala673Gly)
|
rs778099643
|
0.00002
|
NM_001303256.3(MORC2):c.2060G>A (p.Arg687Gln)
|
rs201772330
|
0.00002
|
NM_001303256.3(MORC2):c.2128C>T (p.Pro710Ser)
|
rs780648306
|
0.00002
|
NM_001303256.3(MORC2):c.2243T>C (p.Val748Ala)
|
rs746418433
|
0.00002
|
NM_001303256.3(MORC2):c.238A>G (p.Ser80Gly)
|
rs376351739
|
0.00002
|
NM_001303256.3(MORC2):c.457C>T (p.Arg153Trp)
|
rs774502307
|
0.00002
|
NM_001303256.3(MORC2):c.683C>T (p.Thr228Met)
|
rs774960940
|
0.00002
|
NM_001303256.3(MORC2):c.839C>T (p.Thr280Met)
|
rs764379949
|
0.00002
|
NM_001303256.3(MORC2):c.848G>A (p.Arg283His)
|
rs1482880426
|
0.00002
|
NM_001303256.3(MORC2):c.940C>T (p.Arg314Trp)
|
rs369654856
|
0.00002
|
NM_001303256.3(MORC2):c.988-10A>G
|
rs370880177
|
0.00002
|
NM_001365951.3(KIF1B):c.1693C>T (p.Arg565Trp)
|
rs758740011
|
0.00002
|
NM_001365951.3(KIF1B):c.1804C>T (p.Arg602Cys)
|
rs767848662
|
0.00002
|
NM_001365951.3(KIF1B):c.187G>A (p.Glu63Lys)
|
rs1025709021
|
0.00002
|
NM_001365951.3(KIF1B):c.1943C>A (p.Pro648His)
|
rs771169398
|
0.00002
|
NM_001365951.3(KIF1B):c.214C>T (p.Arg72Cys)
|
rs953019155
|
0.00002
|
NM_001365951.3(KIF1B):c.224A>G (p.Asn75Ser)
|
rs1048688213
|
0.00002
|
NM_001365951.3(KIF1B):c.2448G>C (p.Glu816Asp)
|
rs146335819
|
0.00002
|
NM_001365951.3(KIF1B):c.2558G>A (p.Arg853Gln)
|
rs752039135
|
0.00002
|
NM_001365951.3(KIF1B):c.2605G>A (p.Glu869Lys)
|
rs370243199
|
0.00002
|
NM_001365951.3(KIF1B):c.2693G>A (p.Gly898Asp)
|
rs766101107
|
0.00002
|
NM_001365951.3(KIF1B):c.2744C>T (p.Thr915Met)
|
rs749523745
|
0.00002
|
NM_001365951.3(KIF1B):c.3013T>G (p.Phe1005Val)
|
rs142096228
|
0.00002
|
NM_001365951.3(KIF1B):c.3119A>G (p.Tyr1040Cys)
|
rs751434716
|
0.00002
|
NM_001365951.3(KIF1B):c.3434G>A (p.Arg1145His)
|
rs373663596
|
0.00002
|
NM_001365951.3(KIF1B):c.3925A>G (p.Lys1309Glu)
|
rs772177176
|
0.00002
|
NM_001365951.3(KIF1B):c.3952C>T (p.Arg1318Cys)
|
rs776039242
|
0.00002
|
NM_001365951.3(KIF1B):c.3953G>A (p.Arg1318His)
|
rs368637007
|
0.00002
|
NM_001365951.3(KIF1B):c.4037C>G (p.Ser1346Cys)
|
rs1377919163
|
0.00002
|
NM_001365951.3(KIF1B):c.4067G>A (p.Arg1356His)
|
rs140769726
|
0.00002
|
NM_001365951.3(KIF1B):c.4304C>T (p.Ser1435Leu)
|
rs776370957
|
0.00002
|
NM_001365951.3(KIF1B):c.4445G>A (p.Arg1482Gln)
|
rs367778973
|
0.00002
|
NM_001365951.3(KIF1B):c.4543C>T (p.Arg1515Cys)
|
rs774445070
|
0.00002
|
NM_001365951.3(KIF1B):c.4590A>T (p.Leu1530Phe)
|
rs751046833
|
0.00002
|
NM_001365951.3(KIF1B):c.4711A>C (p.Ile1571Leu)
|
rs766977555
|
0.00002
|
NM_001365951.3(KIF1B):c.5039G>A (p.Arg1680Gln)
|
rs775552504
|
0.00002
|
NM_001365951.3(KIF1B):c.5053G>A (p.Glu1685Lys)
|
rs764494187
|
0.00002
|
NM_001365951.3(KIF1B):c.5225G>A (p.Arg1742His)
|
rs768058092
|
0.00002
|
NM_001365951.3(KIF1B):c.5423G>A (p.Arg1808His)
|
rs770215708
|
0.00002
|
NM_001365951.3(KIF1B):c.668T>C (p.Ile223Thr)
|
rs923434398
|
0.00002
|
NM_001365951.3(KIF1B):c.782A>G (p.Lys261Arg)
|
rs868622074
|
0.00002
|
NM_001370298.3(FGD4):c.1248-3C>A
|
rs755168497
|
0.00002
|
NM_001370298.3(FGD4):c.1339A>G (p.Met447Val)
|
rs368451193
|
0.00002
|
NM_001370298.3(FGD4):c.1463G>A (p.Arg488Gln)
|
rs138762438
|
0.00002
|
NM_001370298.3(FGD4):c.1536T>G (p.Asp512Glu)
|
rs778471949
|
0.00002
|
NM_001370298.3(FGD4):c.1612A>C (p.Lys538Gln)
|
rs749692745
|
0.00002
|
NM_001370298.3(FGD4):c.1657A>G (p.Ile553Val)
|
rs1060501903
|
0.00002
|
NM_001370298.3(FGD4):c.2171A>G (p.Tyr724Cys)
|
rs759496422
|
0.00002
|
NM_001370298.3(FGD4):c.2429T>C (p.Val810Ala)
|
rs776258252
|
0.00002
|
NM_001370298.3(FGD4):c.431C>G (p.Ala144Gly)
|
rs1161650860
|
0.00002
|
NM_001376.5(DYNC1H1):c.11926G>C (p.Glu3976Gln)
|
rs1459731964
|
0.00002
|
NM_001376.5(DYNC1H1):c.1363G>A (p.Ala455Thr)
|
rs1247065537
|
0.00002
|
NM_001376.5(DYNC1H1):c.1942A>G (p.Ile648Val)
|
rs775473086
|
0.00002
|
NM_001376.5(DYNC1H1):c.3079C>T (p.Pro1027Ser)
|
rs1060502206
|
0.00002
|
NM_001376.5(DYNC1H1):c.3766G>A (p.Asp1256Asn)
|
rs760571415
|
0.00002
|
NM_001376.5(DYNC1H1):c.4127G>A (p.Arg1376Gln)
|
rs778731013
|
0.00002
|
NM_001376.5(DYNC1H1):c.8224G>A (p.Ala2742Thr)
|
rs773460120
|
0.00002
|
NM_001376.5(DYNC1H1):c.8977A>G (p.Ile2993Val)
|
rs1187943520
|
0.00002
|
NM_001376.5(DYNC1H1):c.9178C>T (p.Arg3060Cys)
|
rs773658296
|
0.00002
|
NM_001376.5(DYNC1H1):c.9797A>T (p.Lys3266Met)
|
rs765825369
|
0.00002
|
NM_001540.5(HSPB1):c.321C>A (p.Asp107Glu)
|
rs1433396777
|
0.00002
|
NM_001540.5(HSPB1):c.369G>C (p.Lys123Asn)
|
rs755233365
|
0.00002
|
NM_001540.5(HSPB1):c.3G>A (p.Met1Ile)
|
rs1173242313
|
0.00002
|
NM_001540.5(HSPB1):c.598G>A (p.Asp200Asn)
|
rs147500292
|
0.00002
|
NM_001605.3(AARS1):c.1043C>T (p.Thr348Met)
|
rs762241422
|
0.00002
|
NM_001605.3(AARS1):c.1064A>G (p.Gln355Arg)
|
rs1597441035
|
0.00002
|
NM_001605.3(AARS1):c.1375G>A (p.Gly459Arg)
|
rs769182022
|
0.00002
|
NM_001605.3(AARS1):c.1432C>G (p.Leu478Val)
|
rs767099595
|
0.00002
|
NM_001605.3(AARS1):c.1529G>A (p.Arg510His)
|
rs202176955
|
0.00002
|
NM_001605.3(AARS1):c.1645G>A (p.Val549Met)
|
rs558645844
|
0.00002
|
NM_001605.3(AARS1):c.1936A>G (p.Thr646Ala)
|
rs763252550
|
0.00002
|
NM_001605.3(AARS1):c.2003C>T (p.Thr668Ile)
|
rs773483658
|
0.00002
|
NM_001605.3(AARS1):c.2129C>T (p.Pro710Leu)
|
rs754391789
|
0.00002
|
NM_001605.3(AARS1):c.2287-15G>A
|
rs774569911
|
0.00002
|
NM_001605.3(AARS1):c.2446C>T (p.Arg816Trp)
|
rs778478316
|
0.00002
|
NM_001605.3(AARS1):c.2460A>T (p.Lys820Asn)
|
rs759906749
|
0.00002
|
NM_001605.3(AARS1):c.2596G>A (p.Ala866Thr)
|
rs374478964
|
0.00002
|
NM_001605.3(AARS1):c.278A>G (p.Tyr93Cys)
|
rs1251929931
|
0.00002
|
NM_001605.3(AARS1):c.80A>G (p.His27Arg)
|
rs77753666
|
0.00002
|
NM_002047.4(GARS1):c.-6A>G
|
rs747409671
|
0.00002
|
NM_002047.4(GARS1):c.1108G>C (p.Asp370His)
|
rs769026859
|
0.00002
|
NM_002047.4(GARS1):c.112G>A (p.Ala38Thr)
|
rs759499740
|
0.00002
|
NM_002047.4(GARS1):c.1138G>A (p.Ala380Thr)
|
rs772145843
|
0.00002
|
NM_002047.4(GARS1):c.1359C>T (p.Tyr453=)
|
rs901778260
|
0.00002
|
NM_002047.4(GARS1):c.1817G>A (p.Ser606Asn)
|
rs773316961
|
0.00002
|
NM_002047.4(GARS1):c.196C>T (p.Pro66Ser)
|
rs776478280
|
0.00002
|
NM_002047.4(GARS1):c.403G>T (p.Asp135Tyr)
|
rs778553007
|
0.00002
|
NM_002047.4(GARS1):c.637C>T (p.Arg213Cys)
|
rs769780656
|
0.00002
|
NM_002180.3(IGHMBP2):c.1213C>T (p.Pro405Ser)
|
rs1004816448
|
0.00002
|
NM_002180.3(IGHMBP2):c.1316C>T (p.Thr439Met)
|
rs373649545
|
0.00002
|
NM_002180.3(IGHMBP2):c.1342A>G (p.Ile448Val)
|
rs139000973
|
0.00002
|
NM_002180.3(IGHMBP2):c.1349G>A (p.Arg450His)
|
rs771485988
|
0.00002
|
NM_002180.3(IGHMBP2):c.1423C>T (p.Leu475Phe)
|
rs776158939
|
0.00002
|
NM_002180.3(IGHMBP2):c.1552G>A (p.Val518Ile)
|
rs373828321
|
0.00002
|
NM_002180.3(IGHMBP2):c.1597C>T (p.Arg533Cys)
|
rs374185933
|
0.00002
|
NM_002180.3(IGHMBP2):c.1627C>G (p.Leu543Val)
|
rs772592429
|
0.00002
|
NM_002180.3(IGHMBP2):c.1766G>T (p.Gly589Val)
|
rs764900781
|
0.00002
|
NM_002180.3(IGHMBP2):c.1783C>T (p.Arg595Trp)
|
rs746014167
|
0.00002
|
NM_002180.3(IGHMBP2):c.1843C>T (p.Arg615Cys)
|
rs1448152495
|
0.00002
|
NM_002180.3(IGHMBP2):c.1952A>G (p.Tyr651Cys)
|
rs761885813
|
0.00002
|
NM_002180.3(IGHMBP2):c.2185T>C (p.Phe729Leu)
|
rs763014565
|
0.00002
|
NM_002180.3(IGHMBP2):c.2189G>A (p.Arg730Gln)
|
rs765230277
|
0.00002
|
NM_002180.3(IGHMBP2):c.2398G>A (p.Gly800Ser)
|
rs751122806
|
0.00002
|
NM_002180.3(IGHMBP2):c.242A>G (p.Asn81Ser)
|
rs757006949
|
0.00002
|
NM_002180.3(IGHMBP2):c.2456C>T (p.Pro819Leu)
|
rs200072932
|
0.00002
|
NM_002180.3(IGHMBP2):c.2648T>C (p.Phe883Ser)
|
rs774483778
|
0.00002
|
NM_002180.3(IGHMBP2):c.2756G>C (p.Arg919Pro)
|
rs148605058
|
0.00002
|
NM_002180.3(IGHMBP2):c.547C>T (p.His183Tyr)
|
rs548256623
|
0.00002
|
NM_002180.3(IGHMBP2):c.581C>T (p.Thr194Ile)
|
rs375694606
|
0.00002
|
NM_002180.3(IGHMBP2):c.622G>A (p.Glu208Lys)
|
rs374952782
|
0.00002
|
NM_002180.3(IGHMBP2):c.665C>T (p.Thr222Met)
|
rs745416724
|
0.00002
|
NM_002180.3(IGHMBP2):c.736A>G (p.Ile246Val)
|
rs377678376
|
0.00002
|
NM_003680.4(YARS1):c.1042+3A>C
|
rs772446297
|
0.00002
|
NM_003680.4(YARS1):c.1227C>A (p.Phe409Leu)
|
rs763636325
|
0.00002
|
NM_003680.4(YARS1):c.1243C>A (p.Leu415Met)
|
rs774750132
|
0.00002
|
NM_003680.4(YARS1):c.1303G>A (p.Glu435Lys)
|
rs777567617
|
0.00002
|
NM_003680.4(YARS1):c.1487A>G (p.Lys496Arg)
|
rs768160751
|
0.00002
|
NM_003680.4(YARS1):c.209C>T (p.Thr70Ile)
|
rs771657997
|
0.00002
|
NM_003680.4(YARS1):c.260G>A (p.Trp87Ter)
|
rs776952611
|
0.00002
|
NM_003680.4(YARS1):c.310A>G (p.Met104Val)
|
rs763185222
|
0.00002
|
NM_003680.4(YARS1):c.684+3A>G
|
rs375332060
|
0.00002
|
NM_003680.4(YARS1):c.874T>G (p.Tyr292Asp)
|
rs753211165
|
0.00002
|
NM_004637.6(RAB7A):c.167T>C (p.Leu56Pro)
|
rs775104487
|
0.00002
|
NM_004637.6(RAB7A):c.508G>A (p.Ala170Thr)
|
rs750766845
|
0.00002
|
NM_004637.6(RAB7A):c.577G>A (p.Asp193Asn)
|
rs756968558
|
0.00002
|
NM_004990.4(MARS1):c.1180C>T (p.Arg394Cys)
|
rs916967743
|
0.00002
|
NM_004990.4(MARS1):c.1201G>A (p.Val401Met)
|
rs774447812
|
0.00002
|
NM_004990.4(MARS1):c.1261T>C (p.Cys421Arg)
|
rs751129809
|
0.00002
|
NM_004990.4(MARS1):c.1873C>T (p.Arg625Trp)
|
rs754546247
|
0.00002
|
NM_004990.4(MARS1):c.201-3C>T
|
rs374880860
|
0.00002
|
NM_004990.4(MARS1):c.2170C>T (p.Pro724Ser)
|
rs770756933
|
0.00002
|
NM_004990.4(MARS1):c.2285C>T (p.Thr762Met)
|
rs776051748
|
0.00002
|
NM_004990.4(MARS1):c.2294C>T (p.Ala765Val)
|
rs559255944
|
0.00002
|
NM_004990.4(MARS1):c.2384T>C (p.Ile795Thr)
|
rs758314169
|
0.00002
|
NM_004990.4(MARS1):c.2447G>A (p.Arg816His)
|
rs150482634
|
0.00002
|
NM_004990.4(MARS1):c.244A>C (p.Asn82His)
|
rs758051760
|
0.00002
|
NM_004990.4(MARS1):c.2471C>T (p.Thr824Met)
|
rs759262797
|
0.00002
|
NM_004990.4(MARS1):c.2531C>T (p.Ala844Val)
|
rs773914259
|
0.00002
|
NM_004990.4(MARS1):c.277C>T (p.Gln93Ter)
|
rs958058841
|
0.00002
|
NM_004990.4(MARS1):c.31G>A (p.Gly11Ser)
|
rs750309467
|
0.00002
|
NM_004990.4(MARS1):c.331G>C (p.Glu111Gln)
|
rs376785642
|
0.00002
|
NM_005391.5(PDK3):c.1126G>A (p.Ala376Thr)
|
rs781166988
|
0.00002
|
NM_005391.5(PDK3):c.1211C>T (p.Ala404Val)
|
rs375862167
|
0.00002
|
NM_006096.4(NDRG1):c.100-3C>T
|
rs775475505
|
0.00002
|
NM_006096.4(NDRG1):c.1057C>T (p.Arg353Cys)
|
rs777244818
|
0.00002
|
NM_006096.4(NDRG1):c.1081C>T (p.Arg361Cys)
|
rs779065972
|
0.00002
|
NM_006096.4(NDRG1):c.1133C>T (p.Ser378Leu)
|
rs373815729
|
0.00002
|
NM_006096.4(NDRG1):c.1156G>A (p.Gly386Arg)
|
rs768918074
|
0.00002
|
NM_006096.4(NDRG1):c.427G>A (p.Ala143Thr)
|
rs776830575
|
0.00002
|
NM_006096.4(NDRG1):c.4T>G (p.Ser2Ala)
|
rs781381539
|
0.00002
|
NM_006096.4(NDRG1):c.634C>T (p.Arg212Cys)
|
rs138285479
|
0.00002
|
NM_006096.4(NDRG1):c.635G>A (p.Arg212His)
|
rs931069567
|
0.00002
|
NM_006096.4(NDRG1):c.703C>T (p.Arg235Cys)
|
rs772268356
|
0.00002
|
NM_006096.4(NDRG1):c.731C>T (p.Pro244Leu)
|
rs748984505
|
0.00002
|
NM_006096.4(NDRG1):c.904G>A (p.Ala302Thr)
|
rs373637595
|
0.00002
|
NM_006158.5(NEFL):c.1170-19C>T
|
rs762116919
|
0.00002
|
NM_006158.5(NEFL):c.1408C>T (p.Pro470Ser)
|
rs758305388
|
0.00002
|
NM_006158.5(NEFL):c.1528G>A (p.Glu510Lys)
|
rs749256770
|
0.00002
|
NM_006158.5(NEFL):c.1534G>T (p.Gly512Cys)
|
rs267601870
|
0.00002
|
NM_006158.5(NEFL):c.532T>A (p.Tyr178Asn)
|
rs550216338
|
0.00002
|
NM_006158.5(NEFL):c.716A>G (p.Gln239Arg)
|
rs1170226456
|
0.00002
|
NM_006158.5(NEFL):c.743A>C (p.Asp248Ala)
|
rs927119938
|
0.00002
|
NM_014365.3(HSPB8):c.164G>A (p.Arg55His)
|
rs752911264
|
0.00002
|
NM_014365.3(HSPB8):c.65G>A (p.Arg22Gln)
|
rs747381453
|
0.00002
|
NM_014845.6(FIG4):c.107A>G (p.Tyr36Cys)
|
rs760770423
|
0.00002
|
NM_014845.6(FIG4):c.1313A>G (p.Glu438Gly)
|
rs535554973
|
0.00002
|
NM_014845.6(FIG4):c.1376G>A (p.Arg459Gln)
|
rs141309562
|
0.00002
|
NM_014845.6(FIG4):c.1427G>A (p.Arg476His)
|
rs192823053
|
0.00002
|
NM_014845.6(FIG4):c.1474C>T (p.Arg492Cys)
|
rs747284213
|
0.00002
|
NM_014845.6(FIG4):c.1728A>G (p.Arg576=)
|
rs1006163300
|
0.00002
|
NM_014845.6(FIG4):c.1769C>T (p.Ser590Phe)
|
rs773166475
|
0.00002
|
NM_014845.6(FIG4):c.2113A>G (p.Thr705Ala)
|
rs766031746
|
0.00002
|
NM_014845.6(FIG4):c.2405A>G (p.Tyr802Cys)
|
rs370293982
|
0.00002
|
NM_014845.6(FIG4):c.2449A>G (p.Ile817Val)
|
rs781056036
|
0.00002
|
NM_014845.6(FIG4):c.2599A>G (p.Arg867Gly)
|
rs533419433
|
0.00002
|
NM_014845.6(FIG4):c.2661dup (p.Gln888fs)
|
rs778839285
|
0.00002
|
NM_014845.6(FIG4):c.2690T>C (p.Met897Thr)
|
rs764958115
|
0.00002
|
NM_014845.6(FIG4):c.2705T>C (p.Ile902Thr)
|
rs1162967341
|
0.00002
|
NM_014845.6(FIG4):c.321T>G (p.Ile107Met)
|
rs372854425
|
0.00002
|
NM_014845.6(FIG4):c.469G>A (p.Val157Met)
|
rs1455052760
|
0.00002
|
NM_014845.6(FIG4):c.50T>C (p.Leu17Pro)
|
rs587777713
|
0.00002
|
NM_014845.6(FIG4):c.645C>T (p.Ser215=)
|
rs751619327
|
0.00002
|
NM_014845.6(FIG4):c.731G>A (p.Arg244His)
|
rs768175169
|
0.00002
|
NM_014845.6(FIG4):c.809C>T (p.Thr270Ile)
|
rs762123072
|
0.00002
|
NM_014845.6(FIG4):c.904G>A (p.Glu302Lys)
|
rs587777714
|
0.00002
|
NM_014845.6(FIG4):c.974G>C (p.Arg325Thr)
|
rs1060501400
|
0.00002
|
NM_014874.4(MFN2):c.1061T>C (p.Val354Ala)
|
rs1057518235
|
0.00002
|
NM_014874.4(MFN2):c.1112C>T (p.Ala371Val)
|
rs201675158
|
0.00002
|
NM_014874.4(MFN2):c.1180C>T (p.Arg394Cys)
|
rs186448929
|
0.00002
|
NM_014874.4(MFN2):c.1238A>C (p.Gln413Pro)
|
rs375335641
|
0.00002
|
NM_014874.4(MFN2):c.1257T>G (p.Ile419Met)
|
rs749893944
|
0.00002
|
NM_014874.4(MFN2):c.1402C>T (p.Arg468Cys)
|
rs746852710
|
0.00002
|
NM_014874.4(MFN2):c.1480C>A (p.Gln494Lys)
|
rs141775063
|
0.00002
|
NM_014874.4(MFN2):c.1522T>A (p.Ser508Thr)
|
rs751397699
|
0.00002
|
NM_014874.4(MFN2):c.187A>C (p.Asn63His)
|
rs761216583
|
0.00002
|
NM_014874.4(MFN2):c.34G>A (p.Val12Ile)
|
rs367715413
|
0.00002
|
NM_014874.4(MFN2):c.445G>A (p.Glu149Lys)
|
rs754016178
|
0.00002
|
NM_014874.4(MFN2):c.538A>C (p.Ser180Arg)
|
rs756851126
|
0.00002
|
NM_014874.4(MFN2):c.544A>G (p.Met182Val)
|
rs1338701016
|
0.00002
|
NM_014874.4(MFN2):c.610G>A (p.Asp204Asn)
|
rs781651055
|
0.00002
|
NM_014874.4(MFN2):c.740G>A (p.Arg247His)
|
rs762189054
|
0.00002
|
NM_014874.4(MFN2):c.823C>T (p.Arg275Trp)
|
rs368499636
|
0.00002
|
NM_014874.4(MFN2):c.824G>A (p.Arg275Gln)
|
rs560470663
|
0.00002
|
NM_015271.5(TRIM2):c.121C>T (p.Arg41Cys)
|
rs763080800
|
0.00002
|
NM_015271.5(TRIM2):c.1897G>A (p.Gly633Arg)
|
rs1331932809
|
0.00002
|
NM_015271.5(TRIM2):c.388A>G (p.Ile130Val)
|
rs776363552
|
0.00002
|
NM_016156.6(MTMR2):c.1101G>C (p.Lys367Asn)
|
rs747178197
|
0.00002
|
NM_016156.6(MTMR2):c.11G>C (p.Ser4Thr)
|
rs771823531
|
0.00002
|
NM_016156.6(MTMR2):c.1345G>A (p.Val449Met)
|
rs776520645
|
0.00002
|
NM_016156.6(MTMR2):c.139T>C (p.Ser47Pro)
|
rs372095826
|
0.00002
|
NM_016156.6(MTMR2):c.1450A>G (p.Ile484Val)
|
rs886048771
|
0.00002
|
NM_016156.6(MTMR2):c.1832T>C (p.Val611Ala)
|
rs1271455669
|
0.00002
|
NM_016156.6(MTMR2):c.1870_1878dup (p.Ser624_Ser626dup)
|
rs748069614
|
0.00002
|
NM_016156.6(MTMR2):c.22G>A (p.Glu8Lys)
|
rs756912172
|
0.00002
|
NM_016156.6(MTMR2):c.350T>C (p.Met117Thr)
|
rs752402777
|
0.00002
|
NM_016156.6(MTMR2):c.356G>A (p.Arg119Gln)
|
rs759086106
|
0.00002
|
NM_016156.6(MTMR2):c.403G>A (p.Val135Ile)
|
rs951220118
|
0.00002
|
NM_016156.6(MTMR2):c.485G>A (p.Arg162Gln)
|
rs756723587
|
0.00002
|
NM_016156.6(MTMR2):c.759A>C (p.Glu253Asp)
|
rs753939570
|
0.00002
|
NM_016156.6(MTMR2):c.841A>G (p.Ile281Val)
|
rs887196115
|
0.00002
|
NM_018972.4(GDAP1):c.260T>C (p.Ile87Thr)
|
rs751297226
|
0.00002
|
NM_018972.4(GDAP1):c.374G>A (p.Arg125Gln)
|
rs771810975
|
0.00002
|
NM_018972.4(GDAP1):c.389C>A (p.Ser130Tyr)
|
rs147295250
|
0.00002
|
NM_018972.4(GDAP1):c.681T>A (p.Asn227Lys)
|
rs762473236
|
0.00002
|
NM_018972.4(GDAP1):c.782T>C (p.Leu261Pro)
|
rs745398081
|
0.00002
|
NM_020631.6(PLEKHG5):c.1280T>C (p.Met427Thr)
|
rs754678569
|
0.00002
|
NM_020631.6(PLEKHG5):c.1397C>T (p.Ala466Val)
|
rs199839017
|
0.00002
|
NM_020631.6(PLEKHG5):c.1621G>A (p.Val541Met)
|
rs376903637
|
0.00002
|
NM_020631.6(PLEKHG5):c.1643A>G (p.Tyr548Cys)
|
rs749530565
|
0.00002
|
NM_020631.6(PLEKHG5):c.1715C>T (p.Ala572Val)
|
rs761560984
|
0.00002
|
NM_020631.6(PLEKHG5):c.1826C>T (p.Thr609Met)
|
rs553151077
|
0.00002
|
NM_020631.6(PLEKHG5):c.1897G>A (p.Val633Met)
|
rs768944520
|
0.00002
|
NM_020631.6(PLEKHG5):c.1988C>T (p.Thr663Met)
|
rs397515456
|
0.00002
|
NM_020631.6(PLEKHG5):c.2017C>T (p.Arg673Cys)
|
rs747057331
|
0.00002
|
NM_020631.6(PLEKHG5):c.2173G>A (p.Glu725Lys)
|
rs776282542
|
0.00002
|
NM_020631.6(PLEKHG5):c.2213T>A (p.Met738Lys)
|
rs1305950436
|
0.00002
|
NM_020631.6(PLEKHG5):c.2216G>A (p.Arg739Gln)
|
rs754583609
|
0.00002
|
NM_020631.6(PLEKHG5):c.2524C>T (p.Arg842Trp)
|
rs770870023
|
0.00002
|
NM_020631.6(PLEKHG5):c.2579G>A (p.Arg860His)
|
rs765235144
|
0.00002
|
NM_020631.6(PLEKHG5):c.2582G>A (p.Arg861His)
|
rs565558161
|
0.00002
|
NM_020631.6(PLEKHG5):c.2609C>T (p.Pro870Leu)
|
rs772693344
|
0.00002
|
NM_020631.6(PLEKHG5):c.2812G>A (p.Gly938Ser)
|
rs573883242
|
0.00002
|
NM_020631.6(PLEKHG5):c.2867G>A (p.Arg956Lys)
|
rs773530688
|
0.00002
|
NM_020631.6(PLEKHG5):c.2900G>T (p.Arg967Met)
|
rs376606416
|
0.00002
|
NM_020631.6(PLEKHG5):c.2932G>C (p.Ala978Pro)
|
rs368905339
|
0.00002
|
NM_020631.6(PLEKHG5):c.2978C>A (p.Thr993Asn)
|
rs769576836
|
0.00002
|
NM_020631.6(PLEKHG5):c.487G>A (p.Asp163Asn)
|
rs886471004
|
0.00002
|
NM_020631.6(PLEKHG5):c.733C>T (p.Arg245Trp)
|
rs766490061
|
0.00002
|
NM_020631.6(PLEKHG5):c.767C>T (p.Ser256Phe)
|
rs376782083
|
0.00002
|
NM_020631.6(PLEKHG5):c.82C>T (p.Pro28Ser)
|
rs373539850
|
0.00002
|
NM_020631.6(PLEKHG5):c.865C>T (p.Pro289Ser)
|
rs373198302
|
0.00002
|
NM_020631.6(PLEKHG5):c.895T>G (p.Trp299Gly)
|
rs112657733
|
0.00002
|
NM_021625.5(TRPV4):c.1108G>A (p.Gly370Ser)
|
rs146053143
|
0.00002
|
NM_021625.5(TRPV4):c.1158T>G (p.Phe386Leu)
|
rs760428569
|
0.00002
|
NM_021625.5(TRPV4):c.1171C>T (p.Arg391Trp)
|
rs775385702
|
0.00002
|
NM_021625.5(TRPV4):c.1198C>T (p.Arg400Trp)
|
rs781711282
|
0.00002
|
NM_021625.5(TRPV4):c.1199G>A (p.Arg400Gln)
|
rs926925253
|
0.00002
|
NM_021625.5(TRPV4):c.1328T>C (p.Ile443Thr)
|
rs1032807952
|
0.00002
|
NM_021625.5(TRPV4):c.1376T>G (p.Leu459Arg)
|
rs201132615
|
0.00002
|
NM_021625.5(TRPV4):c.1465G>A (p.Ala489Thr)
|
rs758280554
|
0.00002
|
NM_021625.5(TRPV4):c.1549A>G (p.Thr517Ala)
|
rs1085307827
|
0.00002
|
NM_021625.5(TRPV4):c.183C>T (p.Gly61=)
|
rs773744592
|
0.00002
|
NM_021625.5(TRPV4):c.191G>A (p.Arg64Gln)
|
rs1199457372
|
0.00002
|
NM_021625.5(TRPV4):c.2158G>A (p.Glu720Lys)
|
rs1481500312
|
0.00002
|
NM_021625.5(TRPV4):c.2269C>T (p.Arg757Cys)
|
rs757814511
|
0.00002
|
NM_021625.5(TRPV4):c.2432C>T (p.Ser811Leu)
|
rs756076344
|
0.00002
|
NM_021625.5(TRPV4):c.2554C>T (p.Arg852Cys)
|
rs372583866
|
0.00002
|
NM_021625.5(TRPV4):c.2585G>A (p.Arg862His)
|
rs371989034
|
0.00002
|
NM_021625.5(TRPV4):c.29C>T (p.Ala10Val)
|
rs772563295
|
0.00002
|
NM_021625.5(TRPV4):c.479G>A (p.Arg160Gln)
|
rs139300843
|
0.00002
|
NM_021625.5(TRPV4):c.523A>G (p.Thr175Ala)
|
rs146304351
|
0.00002
|
NM_021625.5(TRPV4):c.616C>T (p.Arg206Cys)
|
rs200497189
|
0.00002
|
NM_021625.5(TRPV4):c.646A>G (p.Ile216Val)
|
rs1318320106
|
0.00002
|
NM_021625.5(TRPV4):c.704A>G (p.Tyr235Cys)
|
rs754848195
|
0.00002
|
NM_021625.5(TRPV4):c.743G>A (p.Arg248His)
|
rs759859968
|
0.00002
|
NM_021629.4(GNB4):c.137G>A (p.Arg46Gln)
|
rs755914601
|
0.00002
|
NM_021629.4(GNB4):c.751C>T (p.Arg251Trp)
|
rs756270613
|
0.00002
|
NM_021629.4(GNB4):c.759T>G (p.Phe253Leu)
|
rs368061934
|
0.00002
|
NM_022489.4(INF2):c.1279C>A (p.Pro427Thr)
|
rs1208616690
|
0.00002
|
NM_022489.4(INF2):c.1316C>T (p.Pro439Leu)
|
rs1375222598
|
0.00002
|
NM_022489.4(INF2):c.2005G>A (p.Val669Met)
|
rs756038490
|
0.00002
|
NM_022489.4(INF2):c.2053-3C>T
|
rs754983807
|
0.00002
|
NM_022489.4(INF2):c.3040+2T>C
|
rs1437272364
|
0.00002
|
NM_022489.4(INF2):c.3704_3705del (p.Pro1235fs)
|
rs763988639
|
0.00002
|
NM_022489.4(INF2):c.951C>A (p.Ser317Arg)
|
rs763642754
|
0.00002
|
NM_024577.4(SH3TC2):c.100G>A (p.Ala34Thr)
|
rs1189763508
|
0.00002
|
NM_024577.4(SH3TC2):c.1096A>G (p.Thr366Ala)
|
rs772832716
|
0.00002
|
NM_024577.4(SH3TC2):c.1129C>T (p.Arg377Trp)
|
rs753775570
|
0.00002
|
NM_024577.4(SH3TC2):c.1178-3C>T
|
rs1380474010
|
0.00002
|
NM_024577.4(SH3TC2):c.1254G>T (p.Gln418His)
|
rs146997517
|
0.00002
|
NM_024577.4(SH3TC2):c.1390G>A (p.Ala464Thr)
|
rs764054256
|
0.00002
|
NM_024577.4(SH3TC2):c.142A>G (p.Ile48Val)
|
rs543440112
|
0.00002
|
NM_024577.4(SH3TC2):c.1843G>A (p.Val615Met)
|
rs577783066
|
0.00002
|
NM_024577.4(SH3TC2):c.2096A>T (p.Gln699Leu)
|
rs747615941
|
0.00002
|
NM_024577.4(SH3TC2):c.2578C>T (p.Leu860Phe)
|
rs139958177
|
0.00002
|
NM_024577.4(SH3TC2):c.2671G>A (p.Ala891Thr)
|
rs779223727
|
0.00002
|
NM_024577.4(SH3TC2):c.2873-3C>T
|
rs749316605
|
0.00002
|
NM_024577.4(SH3TC2):c.2999A>C (p.Glu1000Ala)
|
rs192187328
|
0.00002
|
NM_024577.4(SH3TC2):c.3103A>G (p.Ile1035Val)
|
rs369953562
|
0.00002
|
NM_024577.4(SH3TC2):c.3190G>A (p.Glu1064Lys)
|
rs756108498
|
0.00002
|
NM_024577.4(SH3TC2):c.320C>A (p.Ala107Asp)
|
rs1371951870
|
0.00002
|
NM_024577.4(SH3TC2):c.3293C>T (p.Thr1098Ile)
|
rs199514987
|
0.00002
|
NM_024577.4(SH3TC2):c.3457G>T (p.Ala1153Ser)
|
rs778351829
|
0.00002
|
NM_024577.4(SH3TC2):c.3503C>T (p.Ala1168Val)
|
rs372797350
|
0.00002
|
NM_024577.4(SH3TC2):c.3650G>A (p.Gly1217Asp)
|
rs758669363
|
0.00002
|
NM_024577.4(SH3TC2):c.3683A>G (p.His1228Arg)
|
rs1163101801
|
0.00002
|
NM_024577.4(SH3TC2):c.3722C>T (p.Ala1241Val)
|
rs141712019
|
0.00002
|
NM_024577.4(SH3TC2):c.436C>T (p.Leu146Phe)
|
rs755754277
|
0.00002
|
NM_024577.4(SH3TC2):c.892A>G (p.Ile298Val)
|
rs746615255
|
0.00002
|
NM_030962.4(SBF2):c.1072G>A (p.Val358Ile)
|
rs1372841015
|
0.00002
|
NM_030962.4(SBF2):c.1130T>C (p.Ile377Thr)
|
rs371432409
|
0.00002
|
NM_030962.4(SBF2):c.1327G>C (p.Val443Leu)
|
rs765958389
|
0.00002
|
NM_030962.4(SBF2):c.2078A>G (p.His693Arg)
|
rs1269738427
|
0.00002
|
NM_030962.4(SBF2):c.2122T>C (p.Tyr708His)
|
rs368259453
|
0.00002
|
NM_030962.4(SBF2):c.2449C>T (p.Arg817Trp)
|
rs747325449
|
0.00002
|
NM_030962.4(SBF2):c.2597C>T (p.Pro866Leu)
|
rs143887793
|
0.00002
|
NM_030962.4(SBF2):c.2602A>G (p.Ile868Val)
|
rs750641739
|
0.00002
|
NM_030962.4(SBF2):c.2828G>A (p.Arg943Gln)
|
rs753298285
|
0.00002
|
NM_030962.4(SBF2):c.3109C>T (p.Arg1037Cys)
|
rs770723203
|
0.00002
|
NM_030962.4(SBF2):c.3230G>C (p.Gly1077Ala)
|
rs775746690
|
0.00002
|
NM_030962.4(SBF2):c.3313A>G (p.Thr1105Ala)
|
rs1217278816
|
0.00002
|
NM_030962.4(SBF2):c.3353A>T (p.Tyr1118Phe)
|
rs1206899890
|
0.00002
|
NM_030962.4(SBF2):c.3533A>G (p.Asn1178Ser)
|
rs1310790545
|
0.00002
|
NM_030962.4(SBF2):c.3536G>A (p.Arg1179His)
|
rs751750978
|
0.00002
|
NM_030962.4(SBF2):c.3733C>T (p.His1245Tyr)
|
rs753626252
|
0.00002
|
NM_030962.4(SBF2):c.3818G>A (p.Ser1273Asn)
|
rs774935915
|
0.00002
|
NM_030962.4(SBF2):c.3935G>A (p.Arg1312Gln)
|
rs768571931
|
0.00002
|
NM_030962.4(SBF2):c.4394G>A (p.Gly1465Glu)
|
rs762165359
|
0.00002
|
NM_030962.4(SBF2):c.4588A>G (p.Lys1530Glu)
|
rs746575779
|
0.00002
|
NM_030962.4(SBF2):c.4852C>T (p.Arg1618Trp)
|
rs200696363
|
0.00002
|
NM_030962.4(SBF2):c.4853G>A (p.Arg1618Gln)
|
rs770439158
|
0.00002
|
NM_030962.4(SBF2):c.4932T>C (p.Ser1644=)
|
rs757095964
|
0.00002
|
NM_030962.4(SBF2):c.4960A>C (p.Asn1654His)
|
rs927212697
|
0.00002
|
NM_030962.4(SBF2):c.5017G>A (p.Glu1673Lys)
|
rs764823510
|
0.00002
|
NM_030962.4(SBF2):c.5036G>A (p.Arg1679His)
|
rs769919130
|
0.00002
|
NM_030962.4(SBF2):c.5410A>G (p.Met1804Val)
|
rs755264093
|
0.00002
|
NM_030962.4(SBF2):c.5468G>A (p.Arg1823His)
|
rs369992460
|
0.00002
|
NM_030962.4(SBF2):c.5546C>T (p.Ala1849Val)
|
rs1048725630
|
0.00002
|
NM_030962.4(SBF2):c.580A>C (p.Ile194Leu)
|
rs746246566
|
0.00002
|
NM_030973.4(MED25):c.1094C>T (p.Pro365Leu)
|
rs536678372
|
0.00002
|
NM_030973.4(MED25):c.1314C>G (p.Asn438Lys)
|
rs149030211
|
0.00002
|
NM_030973.4(MED25):c.131T>G (p.Ile44Ser)
|
rs376462101
|
0.00002
|
NM_030973.4(MED25):c.1604A>G (p.Asn535Ser)
|
rs1198078458
|
0.00002
|
NM_030973.4(MED25):c.1691C>T (p.Ala564Val)
|
rs750211605
|
0.00002
|
NM_030973.4(MED25):c.1861C>T (p.Pro621Ser)
|
rs543247926
|
0.00002
|
NM_030973.4(MED25):c.1891C>T (p.Pro631Ser)
|
rs764083423
|
0.00002
|
NM_030973.4(MED25):c.1900A>G (p.Ile634Val)
|
rs776084741
|
0.00002
|
NM_030973.4(MED25):c.1973C>T (p.Thr658Ile)
|
rs768469811
|
0.00002
|
NM_030973.4(MED25):c.2113C>A (p.Pro705Thr)
|
rs367802464
|
0.00002
|
NM_030973.4(MED25):c.315C>T (p.Gly105=)
|
rs1441161522
|
0.00002
|
NM_030973.4(MED25):c.368A>C (p.Gln123Pro)
|
rs750315392
|
0.00002
|
NM_030973.4(MED25):c.557G>A (p.Arg186Gln)
|
rs1376475717
|
0.00002
|
NM_030973.4(MED25):c.569C>T (p.Ala190Val)
|
rs780526739
|
0.00002
|
NM_030973.4(MED25):c.697G>A (p.Gly233Ser)
|
rs778397363
|
0.00002
|
NM_030973.4(MED25):c.748G>A (p.Ala250Thr)
|
rs371817340
|
0.00002
|
NM_030973.4(MED25):c.769C>G (p.Leu257Val)
|
rs1057519203
|
0.00002
|
NM_030973.4(MED25):c.846G>T (p.Gln282His)
|
rs762885909
|
0.00002
|
NM_030973.4(MED25):c.943G>A (p.Gly315Arg)
|
rs1483220422
|
0.00002
|
NM_170707.4(LMNA):c.1157+6C>G
|
rs374768416
|
0.00002
|
NM_170707.4(LMNA):c.1187A>T (p.Gln396Leu)
|
rs61693978
|
0.00002
|
NM_170707.4(LMNA):c.1279C>T (p.Arg427Cys)
|
rs373584456
|
0.00002
|
NM_170707.4(LMNA):c.149G>A (p.Arg50His)
|
rs60695352
|
0.00002
|
NM_170707.4(LMNA):c.1504G>A (p.Ala502Thr)
|
rs1215424724
|
0.00002
|
NM_170707.4(LMNA):c.1608+10C>T
|
rs748917147
|
0.00002
|
NM_170707.4(LMNA):c.1879C>T (p.Arg627Cys)
|
rs777841827
|
0.00002
|
NM_170707.4(LMNA):c.1960C>T (p.Arg654Ter)
|
rs267607544
|
0.00002
|
NM_170707.4(LMNA):c.364A>G (p.Lys122Glu)
|
rs1222398892
|
0.00002
|
NM_170707.4(LMNA):c.504G>C (p.Gln168His)
|
rs747771347
|
0.00002
|
NM_170707.4(LMNA):c.566G>A (p.Arg189Gln)
|
rs766856162
|
0.00002
|
NM_170707.4(LMNA):c.658C>T (p.Arg220Cys)
|
rs370134870
|
0.00002
|
NM_170707.4(LMNA):c.884C>T (p.Ser295Leu)
|
rs769210828
|
0.00002
|
NM_170707.4(LMNA):c.886C>T (p.Arg296Cys)
|
rs375987939
|
0.00002
|
NM_170707.4(LMNA):c.977C>T (p.Ser326Leu)
|
rs745540806
|
0.00002
|
NM_170707.4(LMNA):c.986G>A (p.Arg329His)
|
rs397517913
|
0.00002
|
NM_181882.3(PRX):c.1166C>G (p.Pro389Arg)
|
rs377089486
|
0.00002
|
NM_181882.3(PRX):c.1465G>A (p.Val489Met)
|
rs753734869
|
0.00002
|
NM_181882.3(PRX):c.1472T>C (p.Leu491Pro)
|
rs1235376433
|
0.00002
|
NM_181882.3(PRX):c.1585A>G (p.Lys529Glu)
|
rs767098112
|
0.00002
|
NM_181882.3(PRX):c.161C>T (p.Ala54Val)
|
rs774974168
|
0.00002
|
NM_181882.3(PRX):c.16C>T (p.Arg6Trp)
|
rs759056060
|
0.00002
|
NM_181882.3(PRX):c.1906C>T (p.Leu636Phe)
|
rs756785716
|
0.00002
|
NM_181882.3(PRX):c.2098G>A (p.Ala700Thr)
|
rs1160407003
|
0.00002
|
NM_181882.3(PRX):c.2306C>T (p.Pro769Leu)
|
rs371887816
|
0.00002
|
NM_181882.3(PRX):c.2385G>A (p.Met795Ile)
|
rs929097201
|
0.00002
|
NM_181882.3(PRX):c.2395T>C (p.Phe799Leu)
|
rs372370577
|
0.00002
|
NM_181882.3(PRX):c.2534C>T (p.Ala845Val)
|
rs750952608
|
0.00002
|
NM_181882.3(PRX):c.2707A>G (p.Ile903Val)
|
rs941768924
|
0.00002
|
NM_181882.3(PRX):c.2807T>C (p.Phe936Ser)
|
rs765270572
|
0.00002
|
NM_181882.3(PRX):c.2892C>G (p.Ile964Met)
|
rs758668778
|
0.00002
|
NM_181882.3(PRX):c.2908C>T (p.Arg970Trp)
|
rs369224308
|
0.00002
|
NM_181882.3(PRX):c.2999C>T (p.Ala1000Val)
|
rs765924621
|
0.00002
|
NM_181882.3(PRX):c.3646G>A (p.Val1216Met)
|
rs774413102
|
0.00002
|
NM_181882.3(PRX):c.3686G>A (p.Arg1229Gln)
|
rs778017594
|
0.00002
|
NM_181882.3(PRX):c.3698C>T (p.Ala1233Val)
|
rs767851512
|
0.00002
|
NM_181882.3(PRX):c.3919C>T (p.Arg1307Trp)
|
rs752593001
|
0.00002
|
NM_181882.3(PRX):c.4003C>T (p.Arg1335Ter)
|
rs559968504
|
0.00002
|
NM_181882.3(PRX):c.4057G>A (p.Glu1353Lys)
|
rs150914430
|
0.00002
|
NM_181882.3(PRX):c.4117C>T (p.Arg1373Trp)
|
rs766729202
|
0.00002
|
NM_181882.3(PRX):c.4138C>T (p.Arg1380Cys)
|
rs771840476
|
0.00002
|
NM_181882.3(PRX):c.4290G>C (p.Glu1430Asp)
|
rs1347473458
|
0.00002
|
NM_181882.3(PRX):c.457C>T (p.Pro153Ser)
|
rs760295364
|
0.00002
|
NM_181882.3(PRX):c.502C>T (p.Arg168Trp)
|
rs374193988
|
0.00002
|
NM_181882.3(PRX):c.634C>A (p.Pro212Thr)
|
rs771156102
|
0.00002
|
NM_181882.3(PRX):c.668T>C (p.Val223Ala)
|
rs1054277008
|
0.00002
|
NM_181882.3(PRX):c.826G>A (p.Gly276Arg)
|
rs768077877
|
0.00002
|
NM_181882.3(PRX):c.833C>T (p.Pro278Leu)
|
rs886054440
|
0.00002
|
NM_181882.3(PRX):c.902C>A (p.Pro301His)
|
rs1186753867
|
0.00002
|
NC_000012.11:g.57892346A>G
|
rs766466297
|
0.00001
|
NM_000263.4(NAGLU):c.1028C>T (p.Thr343Ile)
|
rs1469114327
|
0.00001
|
NM_000263.4(NAGLU):c.109G>T (p.Ala37Ser)
|
rs2092906065
|
0.00001
|
NM_000263.4(NAGLU):c.1129C>T (p.Arg377Cys)
|
rs762372103
|
0.00001
|
NM_000263.4(NAGLU):c.1130G>A (p.Arg377His)
|
rs199850748
|
0.00001
|
NM_000263.4(NAGLU):c.1178G>A (p.Arg393His)
|
rs753409259
|
0.00001
|
NM_000263.4(NAGLU):c.1267G>A (p.Val423Met)
|
rs1237047553
|
0.00001
|
NM_000263.4(NAGLU):c.1331C>T (p.Ala444Val)
|
rs767179184
|
0.00001
|
NM_000263.4(NAGLU):c.1442G>A (p.Arg481Gln)
|
rs868244206
|
0.00001
|
NM_000263.4(NAGLU):c.1463C>T (p.Pro488Leu)
|
rs748902330
|
0.00001
|
NM_000263.4(NAGLU):c.1487T>C (p.Leu496Pro)
|
rs569519789
|
0.00001
|
NM_000263.4(NAGLU):c.1501G>A (p.Val501Met)
|
rs1300652650
|
0.00001
|
NM_000263.4(NAGLU):c.1565C>T (p.Ser522Phe)
|
rs764446533
|
0.00001
|
NM_000263.4(NAGLU):c.1621C>T (p.Arg541Trp)
|
rs780527821
|
0.00001
|
NM_000263.4(NAGLU):c.1643C>T (p.Pro548Leu)
|
rs1362489439
|
0.00001
|
NM_000263.4(NAGLU):c.1660C>T (p.Pro554Ser)
|
rs1049965915
|
0.00001
|
NM_000263.4(NAGLU):c.1661C>T (p.Pro554Leu)
|
rs1166458645
|
0.00001
|
NM_000263.4(NAGLU):c.176A>G (p.Lys59Arg)
|
rs1217324478
|
0.00001
|
NM_000263.4(NAGLU):c.1783G>A (p.Gly595Arg)
|
rs773277748
|
0.00001
|
NM_000263.4(NAGLU):c.1822G>A (p.Glu608Lys)
|
rs756138287
|
0.00001
|
NM_000263.4(NAGLU):c.1843C>T (p.Arg615Cys)
|
rs199729746
|
0.00001
|
NM_000263.4(NAGLU):c.1858A>G (p.Ser620Gly)
|
rs777994015
|
0.00001
|
NM_000263.4(NAGLU):c.188A>G (p.Asp63Gly)
|
rs1264514990
|
0.00001
|
NM_000263.4(NAGLU):c.1892G>A (p.Ser631Asn)
|
rs1227171021
|
0.00001
|
NM_000263.4(NAGLU):c.1948G>A (p.Gly650Arg)
|
rs1197265081
|
0.00001
|
NM_000263.4(NAGLU):c.1991C>T (p.Ala664Val)
|
rs746006696
|
0.00001
|
NM_000263.4(NAGLU):c.2026C>T (p.Arg676Trp)
|
rs774918711
|
0.00001
|
NM_000263.4(NAGLU):c.2042C>T (p.Ala681Val)
|
rs540744217
|
0.00001
|
NM_000263.4(NAGLU):c.2083C>T (p.His695Tyr)
|
rs146582131
|
0.00001
|
NM_000263.4(NAGLU):c.2109A>C (p.Gln703His)
|
rs754927686
|
0.00001
|
NM_000263.4(NAGLU):c.212G>C (p.Gly71Ala)
|
rs1329966515
|
0.00001
|
NM_000263.4(NAGLU):c.2164G>A (p.Asp722Asn)
|
rs367726645
|
0.00001
|
NM_000263.4(NAGLU):c.2221G>A (p.Gly741Ser)
|
rs553153753
|
0.00001
|
NM_000263.4(NAGLU):c.2222G>A (p.Gly741Asp)
|
rs1455286651
|
0.00001
|
NM_000263.4(NAGLU):c.262G>C (p.Gly88Arg)
|
rs1227387097
|
0.00001
|
NM_000263.4(NAGLU):c.277C>G (p.Leu93Val)
|
rs1285791183
|
0.00001
|
NM_000263.4(NAGLU):c.383+5C>G
|
rs762932040
|
0.00001
|
NM_000263.4(NAGLU):c.384-10C>G
|
rs772996063
|
0.00001
|
NM_000263.4(NAGLU):c.508G>A (p.Gly170Ser)
|
rs762238741
|
0.00001
|
NM_000263.4(NAGLU):c.530G>A (p.Arg177Gln)
|
rs1323850779
|
0.00001
|
NM_000263.4(NAGLU):c.576C>A (p.Phe192Leu)
|
rs765009822
|
0.00001
|
NM_000263.4(NAGLU):c.59G>T (p.Gly20Val)
|
rs1344891508
|
0.00001
|
NM_000263.4(NAGLU):c.604G>A (p.Gly202Arg)
|
rs762576999
|
0.00001
|
NM_000263.4(NAGLU):c.709G>A (p.Gly237Ser)
|
rs1347490896
|
0.00001
|
NM_000263.4(NAGLU):c.737C>T (p.Ala246Val)
|
rs1405289098
|
0.00001
|
NM_000263.4(NAGLU):c.757G>A (p.Val253Ile)
|
rs764452721
|
0.00001
|
NM_000263.4(NAGLU):c.827C>T (p.Ser276Phe)
|
rs769713129
|
0.00001
|
NM_000263.4(NAGLU):c.890G>A (p.Arg297Gln)
|
rs200625281
|
0.00001
|
NM_001005361.3(DNM2):c.10C>T (p.Arg4Cys)
|
rs1202955393
|
0.00001
|
NM_001005361.3(DNM2):c.1128+5T>G
|
rs2071835923
|
0.00001
|
NM_001005361.3(DNM2):c.1196+626G>A
|
rs773756665
|
0.00001
|
NM_001005361.3(DNM2):c.1196+698C>A
|
rs879253980
|
0.00001
|
NM_001005361.3(DNM2):c.1196+735A>G
|
rs778187114
|
0.00001
|
NM_001005361.3(DNM2):c.1196+747A>G
|
rs1280243348
|
0.00001
|
NM_001005361.3(DNM2):c.1351C>T (p.Arg451Trp)
|
rs372593558
|
0.00001
|
NM_001005361.3(DNM2):c.1352G>A (p.Arg451Gln)
|
rs749154067
|
0.00001
|
NM_001005361.3(DNM2):c.1418A>T (p.Asp473Val)
|
rs766613900
|
0.00001
|
NM_001005361.3(DNM2):c.1511C>T (p.Thr504Met)
|
rs759366882
|
0.00001
|
NM_001005361.3(DNM2):c.1541A>G (p.Asn514Ser)
|
rs141132980
|
0.00001
|
NM_001005361.3(DNM2):c.1586A>G (p.Asn529Ser)
|
rs1406718069
|
0.00001
|
NM_001005361.3(DNM2):c.161+6C>T
|
rs2068821980
|
0.00001
|
NM_001005361.3(DNM2):c.1676A>G (p.Lys559Arg)
|
rs886043756
|
0.00001
|
NM_001005361.3(DNM2):c.1772C>T (p.Thr591Met)
|
rs372876881
|
0.00001
|
NM_001005361.3(DNM2):c.1973A>G (p.Asn658Ser)
|
rs753175954
|
0.00001
|
NM_001005361.3(DNM2):c.2017G>A (p.Asp673Asn)
|
rs1423993325
|
0.00001
|
NM_001005361.3(DNM2):c.2035A>G (p.Ile679Val)
|
rs1381561772
|
0.00001
|
NM_001005361.3(DNM2):c.20A>G (p.Glu7Gly)
|
rs1435133623
|
0.00001
|
NM_001005361.3(DNM2):c.2105C>T (p.Ser702Leu)
|
rs745382488
|
0.00001
|
NM_001005361.3(DNM2):c.2135C>T (p.Ser712Leu)
|
rs763393555
|
0.00001
|
NM_001005361.3(DNM2):c.2152C>T (p.Arg718Trp)
|
rs763927287
|
0.00001
|
NM_001005361.3(DNM2):c.2153G>A (p.Arg718Gln)
|
rs753677038
|
0.00001
|
NM_001005361.3(DNM2):c.2158G>A (p.Asp720Asn)
|
rs1253996634
|
0.00001
|
NM_001005361.3(DNM2):c.2173A>G (p.Met725Val)
|
rs757876109
|
0.00001
|
NM_001005361.3(DNM2):c.2209G>A (p.Gly737Ser)
|
rs774897265
|
0.00001
|
NM_001005361.3(DNM2):c.2264C>T (p.Thr755Ile)
|
rs754691182
|
0.00001
|
NM_001005361.3(DNM2):c.2269C>T (p.Leu757Phe)
|
rs375820696
|
0.00001
|
NM_001005361.3(DNM2):c.2292C>T (p.Ser764=)
|
rs779394836
|
0.00001
|
NM_001005361.3(DNM2):c.2326C>T (p.His776Tyr)
|
rs762624510
|
0.00001
|
NM_001005361.3(DNM2):c.2330C>T (p.Pro777Leu)
|
rs1282571887
|
0.00001
|
NM_001005361.3(DNM2):c.2363C>T (p.Thr788Ile)
|
rs763624831
|
0.00001
|
NM_001005361.3(DNM2):c.2371C>T (p.Pro791Ser)
|
rs758644162
|
0.00001
|
NM_001005361.3(DNM2):c.2374C>A (p.Pro792Thr)
|
rs1443504332
|
0.00001
|
NM_001005361.3(DNM2):c.2411T>C (p.Phe804Ser)
|
rs1237677745
|
0.00001
|
NM_001005361.3(DNM2):c.2414C>T (p.Ser805Leu)
|
rs779081943
|
0.00001
|
NM_001005361.3(DNM2):c.2417C>T (p.Ala806Val)
|
rs138527500
|
0.00001
|
NM_001005361.3(DNM2):c.2434C>T (p.Arg812Trp)
|
rs2073292486
|
0.00001
|
NM_001005361.3(DNM2):c.2497T>C (p.Ser833Pro)
|
rs1253864930
|
0.00001
|
NM_001005361.3(DNM2):c.2584C>T (p.Arg862Cys)
|
rs774180125
|
0.00001
|
NM_001005361.3(DNM2):c.2593G>A (p.Glu865Lys)
|
rs746818628
|
0.00001
|
NM_001005361.3(DNM2):c.266A>G (p.Lys89Arg)
|
rs1340636700
|
0.00001
|
NM_001005361.3(DNM2):c.292C>T (p.Arg98Trp)
|
rs200408053
|
0.00001
|
NM_001005361.3(DNM2):c.320G>A (p.Arg107Lys)
|
rs761564812
|
0.00001
|
NM_001005361.3(DNM2):c.335A>G (p.Asn112Ser)
|
rs1220312465
|
0.00001
|
NM_001005361.3(DNM2):c.439G>A (p.Asp147Asn)
|
rs370086632
|
0.00001
|
NM_001005361.3(DNM2):c.496C>T (p.Arg166Trp)
|
rs1366377441
|
0.00001
|
NM_001005361.3(DNM2):c.636G>T (p.Glu212Asp)
|
rs542515194
|
0.00001
|
NM_001005361.3(DNM2):c.688G>C (p.Gly230Arg)
|
rs1245632083
|
0.00001
|
NM_001005361.3(DNM2):c.689-3C>T
|
rs373330742
|
0.00001
|
NM_001005361.3(DNM2):c.800A>G (p.His267Arg)
|
rs1412618988
|
0.00001
|
NM_001005361.3(DNM2):c.808G>A (p.Asp270Asn)
|
rs1217925152
|
0.00001
|
NM_001005361.3(DNM2):c.811C>T (p.Arg271Cys)
|
rs138128705
|
0.00001
|
NM_001005361.3(DNM2):c.821C>T (p.Thr274Met)
|
rs746387165
|
0.00001
|
NM_001005361.3(DNM2):c.83A>T (p.His28Leu)
|
rs774962668
|
0.00001
|
NM_001005361.3(DNM2):c.881C>T (p.Pro294Leu)
|
rs774185418
|
0.00001
|
NM_001005361.3(DNM2):c.88G>A (p.Asp30Asn)
|
rs1344949726
|
0.00001
|
NM_001005361.3(DNM2):c.934G>A (p.Glu312Lys)
|
rs370636702
|
0.00001
|
NM_001005361.3(DNM2):c.944A>G (p.Lys315Arg)
|
rs148105340
|
0.00001
|
NM_001005361.3(DNM2):c.952C>T (p.Arg318Trp)
|
rs778020908
|
0.00001
|
NM_001005373.4(LRSAM1):c.1037A>G (p.Asn346Ser)
|
rs1188237904
|
0.00001
|
NM_001005373.4(LRSAM1):c.1060G>A (p.Glu354Lys)
|
rs773122117
|
0.00001
|
NM_001005373.4(LRSAM1):c.1076T>G (p.Leu359Arg)
|
rs1466479388
|
0.00001
|
NM_001005373.4(LRSAM1):c.1094G>A (p.Arg365Lys)
|
rs1381062773
|
0.00001
|
NM_001005373.4(LRSAM1):c.1102C>G (p.Gln368Glu)
|
rs776814240
|
0.00001
|
NM_001005373.4(LRSAM1):c.1109T>C (p.Met370Thr)
|
rs377079293
|
0.00001
|
NM_001005373.4(LRSAM1):c.1160C>A (p.Ser387Tyr)
|
rs758094270
|
0.00001
|
NM_001005373.4(LRSAM1):c.1168C>G (p.Gln390Glu)
|
rs1258411555
|
0.00001
|
NM_001005373.4(LRSAM1):c.1198C>T (p.Arg400Trp)
|
rs749575647
|
0.00001
|
NM_001005373.4(LRSAM1):c.122T>C (p.Leu41Pro)
|
rs762731732
|
0.00001
|
NM_001005373.4(LRSAM1):c.1267G>A (p.Glu423Lys)
|
rs767351229
|
0.00001
|
NM_001005373.4(LRSAM1):c.1347+3G>T
|
rs375937623
|
0.00001
|
NM_001005373.4(LRSAM1):c.1355T>C (p.Met452Thr)
|
rs765226810
|
0.00001
|
NM_001005373.4(LRSAM1):c.1454T>C (p.Leu485Pro)
|
rs369939320
|
0.00001
|
NM_001005373.4(LRSAM1):c.1522C>T (p.Arg508Cys)
|
rs375737634
|
0.00001
|
NM_001005373.4(LRSAM1):c.1544T>A (p.Leu515His)
|
rs1835983507
|
0.00001
|
NM_001005373.4(LRSAM1):c.1567C>G (p.Gln523Glu)
|
rs1468375975
|
0.00001
|
NM_001005373.4(LRSAM1):c.1589G>A (p.Arg530Gln)
|
rs760321710
|
0.00001
|
NM_001005373.4(LRSAM1):c.1599G>A (p.Leu533=)
|
rs1316186546
|
0.00001
|
NM_001005373.4(LRSAM1):c.1619G>T (p.Ser540Ile)
|
rs1400819662
|
0.00001
|
NM_001005373.4(LRSAM1):c.1699-3C>T
|
rs756218616
|
0.00001
|
NM_001005373.4(LRSAM1):c.17G>A (p.Arg6Gln)
|
rs778740625
|
0.00001
|
NM_001005373.4(LRSAM1):c.1802G>C (p.Ser601Thr)
|
rs201137230
|
0.00001
|
NM_001005373.4(LRSAM1):c.184G>A (p.Val62Ile)
|
rs570688892
|
0.00001
|
NM_001005373.4(LRSAM1):c.1870C>G (p.Arg624Gly)
|
rs375938990
|
0.00001
|
NM_001005373.4(LRSAM1):c.1871G>A (p.Arg624Gln)
|
rs775743246
|
0.00001
|
NM_001005373.4(LRSAM1):c.1921C>T (p.Pro641Ser)
|
rs1479286608
|
0.00001
|
NM_001005373.4(LRSAM1):c.1952C>T (p.Ala651Val)
|
rs777233045
|
0.00001
|
NM_001005373.4(LRSAM1):c.1993C>G (p.Pro665Ala)
|
rs749204843
|
0.00001
|
NM_001005373.4(LRSAM1):c.2041C>T (p.Arg681Trp)
|
rs773899723
|
0.00001
|
NM_001005373.4(LRSAM1):c.2046G>A (p.Glu682=)
|
rs767249563
|
0.00001
|
NM_001005373.4(LRSAM1):c.206C>G (p.Ser69Cys)
|
rs942116544
|
0.00001
|
NM_001005373.4(LRSAM1):c.2095T>C (p.Cys699Arg)
|
rs1341295542
|
0.00001
|
NM_001005373.4(LRSAM1):c.2122C>A (p.Leu708Met)
|
rs1836448549
|
0.00001
|
NM_001005373.4(LRSAM1):c.2129G>A (p.Arg710His)
|
rs770106776
|
0.00001
|
NM_001005373.4(LRSAM1):c.2146C>T (p.Arg716Cys)
|
rs772786050
|
0.00001
|
NM_001005373.4(LRSAM1):c.2153G>A (p.Arg718His)
|
rs764890552
|
0.00001
|
NM_001005373.4(LRSAM1):c.22C>T (p.Arg8Trp)
|
rs752596738
|
0.00001
|
NM_001005373.4(LRSAM1):c.259G>T (p.Asp87Tyr)
|
rs1172570035
|
0.00001
|
NM_001005373.4(LRSAM1):c.261T>G (p.Asp87Glu)
|
rs746714138
|
0.00001
|
NM_001005373.4(LRSAM1):c.274C>A (p.Gln92Lys)
|
rs1231990557
|
0.00001
|
NM_001005373.4(LRSAM1):c.306G>C (p.Gln102His)
|
rs1392534147
|
0.00001
|
NM_001005373.4(LRSAM1):c.323T>C (p.Val108Ala)
|
rs1324443410
|
0.00001
|
NM_001005373.4(LRSAM1):c.362G>A (p.Arg121His)
|
rs143910539
|
0.00001
|
NM_001005373.4(LRSAM1):c.449G>A (p.Arg150Gln)
|
rs200115008
|
0.00001
|
NM_001005373.4(LRSAM1):c.541G>C (p.Asp181His)
|
rs1255236822
|
0.00001
|
NM_001005373.4(LRSAM1):c.544G>A (p.Ala182Thr)
|
rs780636250
|
0.00001
|
NM_001005373.4(LRSAM1):c.551C>T (p.Ala184Val)
|
rs947752458
|
0.00001
|
NM_001005373.4(LRSAM1):c.598A>G (p.Ile200Val)
|
rs542077582
|
0.00001
|
NM_001005373.4(LRSAM1):c.5C>T (p.Pro2Leu)
|
rs553074777
|
0.00001
|
NM_001005373.4(LRSAM1):c.604C>G (p.Gln202Glu)
|
rs746274685
|
0.00001
|
NM_001005373.4(LRSAM1):c.64A>T (p.Met22Leu)
|
rs769236666
|
0.00001
|
NM_001005373.4(LRSAM1):c.694C>T (p.Arg232Trp)
|
rs754527468
|
0.00001
|
NM_001005373.4(LRSAM1):c.775A>T (p.Arg259Trp)
|
rs548898578
|
0.00001
|
NM_001005373.4(LRSAM1):c.805G>A (p.Glu269Lys)
|
rs1414933191
|
0.00001
|
NM_001005373.4(LRSAM1):c.821T>C (p.Leu274Pro)
|
rs1160703093
|
0.00001
|
NM_001005373.4(LRSAM1):c.82G>T (p.Ala28Ser)
|
rs1564248714
|
0.00001
|
NM_001005373.4(LRSAM1):c.893C>T (p.Thr298Met)
|
rs747368361
|
0.00001
|
NM_001005373.4(LRSAM1):c.968G>A (p.Arg323Gln)
|
rs776157689
|
0.00001
|
NM_001005373.4(LRSAM1):c.98T>G (p.Ile33Ser)
|
rs1276292442
|
0.00001
|
NM_001122955.4(BSCL2):c.1016G>A (p.Arg339Gln)
|
rs757850010
|
0.00001
|
NM_001122955.4(BSCL2):c.1022G>A (p.Arg341Lys)
|
rs144725547
|
0.00001
|
NM_001122955.4(BSCL2):c.1033C>T (p.Arg345Trp)
|
rs767820877
|
0.00001
|
NM_001122955.4(BSCL2):c.1049G>A (p.Arg350Gln)
|
rs749917957
|
0.00001
|
NM_001122955.4(BSCL2):c.1069C>T (p.Pro357Ser)
|
rs781022347
|
0.00001
|
NM_001122955.4(BSCL2):c.1071A>G (p.Pro357=)
|
rs113336810
|
0.00001
|
NM_001122955.4(BSCL2):c.1096A>G (p.Thr366Ala)
|
rs776379711
|
0.00001
|
NM_001122955.4(BSCL2):c.1106C>T (p.Ser369Leu)
|
rs771698323
|
0.00001
|
NM_001122955.4(BSCL2):c.1160A>G (p.Gln387Arg)
|
rs779682500
|
0.00001
|
NM_001122955.4(BSCL2):c.1234+6G>A
|
rs762726296
|
0.00001
|
NM_001122955.4(BSCL2):c.1281_1286dup (p.428PA[4])
|
rs1383028616
|
0.00001
|
NM_001122955.4(BSCL2):c.1298C>T (p.Ala433Val)
|
rs141657385
|
0.00001
|
NM_001122955.4(BSCL2):c.1354G>T (p.Ala452Ser)
|
rs1060503382
|
0.00001
|
NM_001122955.4(BSCL2):c.1361G>A (p.Arg454Gln)
|
rs143017094
|
0.00001
|
NM_001122955.4(BSCL2):c.209C>T (p.Pro70Leu)
|
rs764226928
|
0.00001
|
NM_001122955.4(BSCL2):c.214C>G (p.Pro72Ala)
|
rs2083513120
|
0.00001
|
NM_001122955.4(BSCL2):c.257G>A (p.Gly86Asp)
|
rs772832629
|
0.00001
|
NM_001122955.4(BSCL2):c.270G>T (p.Arg90Ser)
|
rs756668260
|
0.00001
|
NM_001122955.4(BSCL2):c.285T>G (p.Phe95Leu)
|
rs568354548
|
0.00001
|
NM_001122955.4(BSCL2):c.344C>T (p.Ser115Phe)
|
rs765023622
|
0.00001
|
NM_001122955.4(BSCL2):c.389T>C (p.Val130Ala)
|
rs1471285147
|
0.00001
|
NM_001122955.4(BSCL2):c.405-11A>G
|
rs1434874435
|
0.00001
|
NM_001122955.4(BSCL2):c.466A>G (p.Thr156Ala)
|
rs137930278
|
0.00001
|
NM_001122955.4(BSCL2):c.485G>A (p.Arg162Gln)
|
rs768780378
|
0.00001
|
NM_001122955.4(BSCL2):c.505C>T (p.Pro169Ser)
|
rs878855171
|
0.00001
|
NM_001122955.4(BSCL2):c.512G>T (p.Arg171Leu)
|
rs377609967
|
0.00001
|
NM_001122955.4(BSCL2):c.514G>T (p.Val172Phe)
|
rs1945403974
|
0.00001
|
NM_001122955.4(BSCL2):c.605G>A (p.Arg202Gln)
|
rs771534001
|
0.00001
|
NM_001122955.4(BSCL2):c.641A>G (p.His214Arg)
|
rs544020840
|
0.00001
|
NM_001122955.4(BSCL2):c.666G>C (p.Met222Ile)
|
rs755623017
|
0.00001
|
NM_001122955.4(BSCL2):c.765G>A (p.Ser255=)
|
rs774120735
|
0.00001
|
NM_001122955.4(BSCL2):c.808C>T (p.Arg270Cys)
|
rs751664305
|
0.00001
|
NM_001122955.4(BSCL2):c.902T>C (p.Ile301Thr)
|
rs776986432
|
0.00001
|
NM_001122955.4(BSCL2):c.940G>A (p.Val314Met)
|
rs916916343
|
0.00001
|
NM_001122955.4(BSCL2):c.991C>T (p.Arg331Cys)
|
rs773431994
|
0.00001
|
NM_001136472.2(LITAF):c.124G>T (p.Gly42Trp)
|
rs775942980
|
0.00001
|
NM_001136472.2(LITAF):c.151C>T (p.Pro51Ser)
|
rs752978718
|
0.00001
|
NM_001136472.2(LITAF):c.157G>A (p.Gly53Arg)
|
rs755155866
|
0.00001
|
NM_001136472.2(LITAF):c.172C>T (p.Pro58Ser)
|
rs1342498271
|
0.00001
|
NM_001136472.2(LITAF):c.173C>T (p.Pro58Leu)
|
rs1313689306
|
0.00001
|
NM_001136472.2(LITAF):c.17C>T (p.Pro6Leu)
|
rs774532093
|
0.00001
|
NM_001136472.2(LITAF):c.223A>G (p.Thr75Ala)
|
rs756539992
|
0.00001
|
NM_001136472.2(LITAF):c.233C>T (p.Thr78Met)
|
rs1228516620
|
0.00001
|
NM_001136472.2(LITAF):c.251C>T (p.Pro84Leu)
|
rs761746674
|
0.00001
|
NM_001136472.2(LITAF):c.269G>A (p.Arg90His)
|
rs200789696
|
0.00001
|
NM_001136472.2(LITAF):c.26C>T (p.Ala9Val)
|
rs529766640
|
0.00001
|
NM_001136472.2(LITAF):c.386C>T (p.Ala129Val)
|
rs201512884
|
0.00001
|
NM_001136472.2(LITAF):c.88A>T (p.Asn30Tyr)
|
rs368574479
|
0.00001
|
NM_001303256.3(MORC2):c.1039G>A (p.Asp347Asn)
|
rs138994326
|
0.00001
|
NM_001303256.3(MORC2):c.1298C>G (p.Ala433Gly)
|
rs1370510062
|
0.00001
|
NM_001303256.3(MORC2):c.1310G>A (p.Arg437Gln)
|
rs2040679348
|
0.00001
|
NM_001303256.3(MORC2):c.1357G>A (p.Asp453Asn)
|
rs1007541711
|
0.00001
|
NM_001303256.3(MORC2):c.1370-3C>T
|
rs770913783
|
0.00001
|
NM_001303256.3(MORC2):c.1447C>G (p.Leu483Val)
|
rs367704663
|
0.00001
|
NM_001303256.3(MORC2):c.1497C>T (p.Cys499=)
|
rs1345120667
|
0.00001
|
NM_001303256.3(MORC2):c.1499-3C>T
|
rs1266866371
|
0.00001
|
NM_001303256.3(MORC2):c.1561G>T (p.Asp521Tyr)
|
rs749364295
|
0.00001
|
NM_001303256.3(MORC2):c.1603C>T (p.Arg535Trp)
|
rs576981610
|
0.00001
|
NM_001303256.3(MORC2):c.1604G>A (p.Arg535Gln)
|
rs750003469
|
0.00001
|
NM_001303256.3(MORC2):c.164G>A (p.Arg55Gln)
|
rs574524678
|
0.00001
|
NM_001303256.3(MORC2):c.1650C>G (p.Phe550Leu)
|
rs1338480863
|
0.00001
|
NM_001303256.3(MORC2):c.1705C>T (p.Arg569Cys)
|
rs267606222
|
0.00001
|
NM_001303256.3(MORC2):c.1753C>T (p.Arg585Cys)
|
rs548292999
|
0.00001
|
NM_001303256.3(MORC2):c.176G>A (p.Arg59Gln)
|
rs781481050
|
0.00001
|
NM_001303256.3(MORC2):c.1799G>A (p.Arg600Lys)
|
rs200774292
|
0.00001
|
NM_001303256.3(MORC2):c.1812G>A (p.Glu604=)
|
rs1214680334
|
0.00001
|
NM_001303256.3(MORC2):c.1820T>C (p.Val607Ala)
|
rs1555937777
|
0.00001
|
NM_001303256.3(MORC2):c.1835G>A (p.Arg612His)
|
rs763388376
|
0.00001
|
NM_001303256.3(MORC2):c.1841G>A (p.Arg614Gln)
|
rs1399556111
|
0.00001
|
NM_001303256.3(MORC2):c.1874C>G (p.Ala625Gly)
|
rs773737902
|
0.00001
|
NM_001303256.3(MORC2):c.1924C>T (p.Arg642Ter)
|
rs373881103
|
0.00001
|
NM_001303256.3(MORC2):c.1925G>A (p.Arg642Gln)
|
rs765892287
|
0.00001
|
NM_001303256.3(MORC2):c.1942A>G (p.Ser648Gly)
|
rs200703581
|
0.00001
|
NM_001303256.3(MORC2):c.1994C>G (p.Ser665Cys)
|
rs1402143255
|
0.00001
|
NM_001303256.3(MORC2):c.2024G>A (p.Arg675Gln)
|
rs563612262
|
0.00001
|
NM_001303256.3(MORC2):c.2072T>C (p.Leu691Pro)
|
rs142307145
|
0.00001
|
NM_001303256.3(MORC2):c.2092T>C (p.Ser698Pro)
|
rs897158764
|
0.00001
|
NM_001303256.3(MORC2):c.2120G>A (p.Arg707Gln)
|
rs768807060
|
0.00001
|
NM_001303256.3(MORC2):c.2171A>G (p.Glu724Gly)
|
rs1031845854
|
0.00001
|
NM_001303256.3(MORC2):c.2188T>A (p.Ser730Thr)
|
rs759091855
|
0.00001
|
NM_001303256.3(MORC2):c.2207G>A (p.Arg736Gln)
|
rs957333682
|
0.00001
|
NM_001303256.3(MORC2):c.2228C>A (p.Ser743Tyr)
|
rs142840638
|
0.00001
|
NM_001303256.3(MORC2):c.227G>A (p.Ser76Asn)
|
rs762809030
|
0.00001
|
NM_001303256.3(MORC2):c.2281C>T (p.Arg761Trp)
|
rs369384586
|
0.00001
|
NM_001303256.3(MORC2):c.2292T>G (p.Phe764Leu)
|
rs1396767941
|
0.00001
|
NM_001303256.3(MORC2):c.2381-3C>T
|
rs1309634022
|
0.00001
|
NM_001303256.3(MORC2):c.2395G>A (p.Val799Met)
|
rs370149816
|
0.00001
|
NM_001303256.3(MORC2):c.2411A>G (p.Asn804Ser)
|
rs759734334
|
0.00001
|
NM_001303256.3(MORC2):c.2432G>A (p.Arg811His)
|
rs1163301326
|
0.00001
|
NM_001303256.3(MORC2):c.2467C>T (p.Arg823Trp)
|
rs2040597155
|
0.00001
|
NM_001303256.3(MORC2):c.2504C>T (p.Thr835Met)
|
rs760341830
|
0.00001
|
NM_001303256.3(MORC2):c.2633A>T (p.Gln878Leu)
|
rs767254485
|
0.00001
|
NM_001303256.3(MORC2):c.2708C>G (p.Thr903Ser)
|
rs762499940
|
0.00001
|
NM_001303256.3(MORC2):c.2725G>A (p.Asp909Asn)
|
rs770586964
|
0.00001
|
NM_001303256.3(MORC2):c.2747+6T>C
|
rs368417146
|
0.00001
|
NM_001303256.3(MORC2):c.2776A>G (p.Ser926Gly)
|
rs768569356
|
0.00001
|
NM_001303256.3(MORC2):c.286C>G (p.Gln96Glu)
|
rs749060708
|
0.00001
|
NM_001303256.3(MORC2):c.2880C>G (p.Asn960Lys)
|
rs750335952
|
0.00001
|
NM_001303256.3(MORC2):c.2888A>G (p.Asn963Ser)
|
rs781162787
|
0.00001
|
NM_001303256.3(MORC2):c.2903G>A (p.Arg968His)
|
rs370918395
|
0.00001
|
NM_001303256.3(MORC2):c.2914C>T (p.Arg972Trp)
|
rs1485425350
|
0.00001
|
NM_001303256.3(MORC2):c.2941C>T (p.Arg981Cys)
|
rs1307310663
|
0.00001
|
NM_001303256.3(MORC2):c.2962C>T (p.Arg988Cys)
|
rs748910060
|
0.00001
|
NM_001303256.3(MORC2):c.2963G>A (p.Arg988His)
|
rs747693260
|
0.00001
|
NM_001303256.3(MORC2):c.2969C>T (p.Thr990Met)
|
rs745339848
|
0.00001
|
NM_001303256.3(MORC2):c.3028G>C (p.Glu1010Gln)
|
rs1202036526
|
0.00001
|
NM_001303256.3(MORC2):c.3030+6C>G
|
rs1388656367
|
0.00001
|
NM_001303256.3(MORC2):c.458G>A (p.Arg153Gln)
|
rs768748502
|
0.00001
|
NM_001303256.3(MORC2):c.470C>G (p.Pro157Arg)
|
rs370868047
|
0.00001
|
NM_001303256.3(MORC2):c.481A>C (p.Asn161His)
|
rs1316437948
|
0.00001
|
NM_001303256.3(MORC2):c.493T>C (p.Phe165Leu)
|
rs1602491814
|
0.00001
|
NM_001303256.3(MORC2):c.509A>G (p.Glu170Gly)
|
rs1457131129
|
0.00001
|
NM_001303256.3(MORC2):c.518A>C (p.Tyr173Ser)
|
rs144248516
|
0.00001
|
NM_001303256.3(MORC2):c.541G>A (p.Glu181Lys)
|
rs750265510
|
0.00001
|
NM_001303256.3(MORC2):c.562T>A (p.Phe188Ile)
|
rs1360752364
|
0.00001
|
NM_001303256.3(MORC2):c.649A>G (p.Ile217Val)
|
rs375266158
|
0.00001
|
NM_001303256.3(MORC2):c.709C>T (p.Arg237Trp)
|
rs762233089
|
0.00001
|
NM_001303256.3(MORC2):c.815A>T (p.Tyr272Phe)
|
rs987083509
|
0.00001
|
NM_001303256.3(MORC2):c.825-3C>A
|
rs752040112
|
0.00001
|
NM_001303256.3(MORC2):c.828G>A (p.Met276Ile)
|
rs1235679626
|
0.00001
|
NM_001303256.3(MORC2):c.917C>T (p.Ala306Val)
|
rs554250414
|
0.00001
|
NM_001303256.3(MORC2):c.941G>A (p.Arg314Gln)
|
rs751140985
|
0.00001
|
NM_001365951.3(KIF1B):c.109A>G (p.Ile37Val)
|
rs779530504
|
0.00001
|
NM_001365951.3(KIF1B):c.1133G>A (p.Arg378Gln)
|
rs750790168
|
0.00001
|
NM_001365951.3(KIF1B):c.1151G>A (p.Arg384His)
|
rs753524217
|
0.00001
|
NM_001365951.3(KIF1B):c.1346G>A (p.Ser449Asn)
|
rs776678008
|
0.00001
|
NM_001365951.3(KIF1B):c.1393A>T (p.Met465Leu)
|
rs560710521
|
0.00001
|
NM_001365951.3(KIF1B):c.1696C>T (p.Arg566Cys)
|
rs985819179
|
0.00001
|
NM_001365951.3(KIF1B):c.1751G>T (p.Arg584Leu)
|
rs1169892801
|
0.00001
|
NM_001365951.3(KIF1B):c.1765A>G (p.Asn589Asp)
|
rs1415991152
|
0.00001
|
NM_001365951.3(KIF1B):c.1855C>T (p.Arg619Cys)
|
rs752648536
|
0.00001
|
NM_001365951.3(KIF1B):c.185C>T (p.Pro62Leu)
|
rs1262165101
|
0.00001
|
NM_001365951.3(KIF1B):c.1911G>A (p.Pro637=)
|
rs138876135
|
0.00001
|
NM_001365951.3(KIF1B):c.1922G>A (p.Arg641Gln)
|
rs1357742021
|
0.00001
|
NM_001365951.3(KIF1B):c.1938G>T (p.Lys646Asn)
|
rs1458739115
|
0.00001
|
NM_001365951.3(KIF1B):c.2120A>T (p.Tyr707Phe)
|
rs140536329
|
0.00001
|
NM_001365951.3(KIF1B):c.2254C>T (p.Arg752Trp)
|
rs368066001
|
0.00001
|
NM_001365951.3(KIF1B):c.2304C>T (p.Gly768=)
|
rs1467745413
|
0.00001
|
NM_001365951.3(KIF1B):c.2461C>T (p.Pro821Ser)
|
rs1381096991
|
0.00001
|
NM_001365951.3(KIF1B):c.2468C>T (p.Thr823Ile)
|
rs901431074
|
0.00001
|
NM_001365951.3(KIF1B):c.253G>T (p.Ala85Ser)
|
rs765957120
|
0.00001
|
NM_001365951.3(KIF1B):c.2572A>G (p.Arg858Gly)
|
rs779626536
|
0.00001
|
NM_001365951.3(KIF1B):c.2624C>T (p.Thr875Ile)
|
rs757797211
|
0.00001
|
NM_001365951.3(KIF1B):c.2635C>G (p.Pro879Ala)
|
rs767998327
|
0.00001
|
NM_001365951.3(KIF1B):c.2642A>G (p.Tyr881Cys)
|
rs755850268
|
0.00001
|
NM_001365951.3(KIF1B):c.2704G>A (p.Glu902Lys)
|
rs368663292
|
0.00001
|
NM_001365951.3(KIF1B):c.2719C>T (p.Arg907Cys)
|
rs1334915559
|
0.00001
|
NM_001365951.3(KIF1B):c.2749G>A (p.Asp917Asn)
|
rs768941996
|
0.00001
|
NM_001365951.3(KIF1B):c.2818G>A (p.Val940Met)
|
rs764144206
|
0.00001
|
NM_001365951.3(KIF1B):c.2839G>T (p.Ala947Ser)
|
rs748284088
|
0.00001
|
NM_001365951.3(KIF1B):c.2846C>T (p.Thr949Met)
|
rs141942131
|
0.00001
|
NM_001365951.3(KIF1B):c.287A>G (p.Tyr96Cys)
|
rs774337231
|
0.00001
|
NM_001365951.3(KIF1B):c.2925-3T>C
|
rs958025550
|
0.00001
|
NM_001365951.3(KIF1B):c.2959G>A (p.Val987Met)
|
rs768340319
|
0.00001
|
NM_001365951.3(KIF1B):c.3043+4G>A
|
rs1331772399
|
0.00001
|
NM_001365951.3(KIF1B):c.3134A>G (p.Asp1045Gly)
|
rs775328436
|
0.00001
|
NM_001365951.3(KIF1B):c.3220A>G (p.Ile1074Val)
|
rs1171524410
|
0.00001
|
NM_001365951.3(KIF1B):c.3262T>G (p.Leu1088Val)
|
rs1001609597
|
0.00001
|
NM_001365951.3(KIF1B):c.3271A>G (p.Ser1091Gly)
|
rs753279755
|
0.00001
|
NM_001365951.3(KIF1B):c.3349T>G (p.Phe1117Val)
|
rs180870886
|
0.00001
|
NM_001365951.3(KIF1B):c.3565A>G (p.Ile1189Val)
|
rs190481457
|
0.00001
|
NM_001365951.3(KIF1B):c.3625C>G (p.Leu1209Val)
|
rs1320246121
|
0.00001
|
NM_001365951.3(KIF1B):c.3649C>T (p.Arg1217Cys)
|
rs763460099
|
0.00001
|
NM_001365951.3(KIF1B):c.3688+5G>A
|
rs373470177
|
0.00001
|
NM_001365951.3(KIF1B):c.3725G>T (p.Ser1242Ile)
|
rs745380720
|
0.00001
|
NM_001365951.3(KIF1B):c.3743G>A (p.Ser1248Asn)
|
rs1183079670
|
0.00001
|
NM_001365951.3(KIF1B):c.3754C>T (p.Leu1252Phe)
|
rs369250279
|
0.00001
|
NM_001365951.3(KIF1B):c.3772A>G (p.Ile1258Val)
|
rs746270104
|
0.00001
|
NM_001365951.3(KIF1B):c.3827C>T (p.Ala1276Val)
|
rs747752091
|
0.00001
|
NM_001365951.3(KIF1B):c.391A>G (p.Asn131Asp)
|
rs770849620
|
0.00001
|
NM_001365951.3(KIF1B):c.392A>G (p.Asn131Ser)
|
rs776533873
|
0.00001
|
NM_001365951.3(KIF1B):c.3935G>A (p.Arg1312His)
|
rs766432835
|
0.00001
|
NM_001365951.3(KIF1B):c.4078G>A (p.Val1360Met)
|
rs1553170068
|
0.00001
|
NM_001365951.3(KIF1B):c.4155G>T (p.Leu1385Phe)
|
rs760253167
|
0.00001
|
NM_001365951.3(KIF1B):c.4157C>T (p.Ser1386Leu)
|
rs1481645640
|
0.00001
|
NM_001365951.3(KIF1B):c.4195G>A (p.Val1399Ile)
|
rs770566165
|
0.00001
|
NM_001365951.3(KIF1B):c.4256G>A (p.Arg1419His)
|
rs567728453
|
0.00001
|
NM_001365951.3(KIF1B):c.4297C>A (p.Pro1433Thr)
|
rs757899517
|
0.00001
|
NM_001365951.3(KIF1B):c.4444C>T (p.Arg1482Trp)
|
rs1461624745
|
0.00001
|
NM_001365951.3(KIF1B):c.4450C>T (p.Arg1484Cys)
|
rs1638533355
|
0.00001
|
NM_001365951.3(KIF1B):c.445A>G (p.Ile149Val)
|
rs1051917954
|
0.00001
|
NM_001365951.3(KIF1B):c.4522A>G (p.Thr1508Ala)
|
rs78662124
|
0.00001
|
NM_001365951.3(KIF1B):c.4538T>C (p.Leu1513Pro)
|
rs745654802
|
0.00001
|
NM_001365951.3(KIF1B):c.4544G>A (p.Arg1515His)
|
rs375130478
|
0.00001
|
NM_001365951.3(KIF1B):c.4580G>A (p.Ser1527Asn)
|
rs121908164
|
0.00001
|
NM_001365951.3(KIF1B):c.4582G>T (p.Asp1528Tyr)
|
rs1242181470
|
0.00001
|
NM_001365951.3(KIF1B):c.4600C>T (p.Leu1534Phe)
|
rs200971835
|
0.00001
|
NM_001365951.3(KIF1B):c.4601T>G (p.Leu1534Arg)
|
rs1011009249
|
0.00001
|
NM_001365951.3(KIF1B):c.4633A>G (p.Ile1545Val)
|
rs148387809
|
0.00001
|
NM_001365951.3(KIF1B):c.4669G>A (p.Ala1557Thr)
|
rs200255510
|
0.00001
|
NM_001365951.3(KIF1B):c.4684G>A (p.Glu1562Lys)
|
rs761322006
|
0.00001
|
NM_001365951.3(KIF1B):c.4697A>G (p.Tyr1566Cys)
|
rs1460523196
|
0.00001
|
NM_001365951.3(KIF1B):c.47A>G (p.Asn16Ser)
|
rs1409278786
|
0.00001
|
NM_001365951.3(KIF1B):c.4844T>C (p.Ile1615Thr)
|
rs376471111
|
0.00001
|
NM_001365951.3(KIF1B):c.4850G>A (p.Arg1617Gln)
|
rs775481158
|
0.00001
|
NM_001365951.3(KIF1B):c.4966C>T (p.Arg1656Trp)
|
rs758454220
|
0.00001
|
NM_001365951.3(KIF1B):c.4970C>T (p.Ala1657Val)
|
rs758879647
|
0.00001
|
NM_001365951.3(KIF1B):c.5003A>G (p.Gln1668Arg)
|
rs1638828437
|
0.00001
|
NM_001365951.3(KIF1B):c.5008G>A (p.Val1670Ile)
|
rs745444286
|
0.00001
|
NM_001365951.3(KIF1B):c.5014G>C (p.Ala1672Pro)
|
rs909290817
|
0.00001
|
NM_001365951.3(KIF1B):c.5176C>T (p.Arg1726Cys)
|
rs754479325
|
0.00001
|
NM_001365951.3(KIF1B):c.5177G>A (p.Arg1726His)
|
rs778439251
|
0.00001
|
NM_001365951.3(KIF1B):c.5214C>G (p.Asp1738Glu)
|
rs774464311
|
0.00001
|
NM_001365951.3(KIF1B):c.5291C>T (p.Thr1764Ile)
|
rs777106047
|
0.00001
|
NM_001365951.3(KIF1B):c.5329G>T (p.Val1777Phe)
|
rs781002245
|
0.00001
|
NM_001365951.3(KIF1B):c.5348A>G (p.Asn1783Ser)
|
rs549813751
|
0.00001
|
NM_001365951.3(KIF1B):c.5369G>C (p.Trp1790Ser)
|
rs367884252
|
0.00001
|
NM_001365951.3(KIF1B):c.5406A>G (p.Ile1802Met)
|
rs150737970
|
0.00001
|
NM_001365951.3(KIF1B):c.5407C>T (p.Arg1803Trp)
|
rs759957126
|
0.00001
|
NM_001365951.3(KIF1B):c.5422C>T (p.Arg1808Cys)
|
rs1060501912
|
0.00001
|
NM_001365951.3(KIF1B):c.549G>C (p.Lys183Asn)
|
rs1308362049
|
0.00001
|
NM_001365951.3(KIF1B):c.574A>G (p.Ile192Val)
|
rs1332621585
|
0.00001
|
NM_001365951.3(KIF1B):c.5C>T (p.Ser2Leu)
|
rs1272900057
|
0.00001
|
NM_001365951.3(KIF1B):c.61A>G (p.Ser21Gly)
|
rs769237267
|
0.00001
|
NM_001365951.3(KIF1B):c.65A>G (p.Lys22Arg)
|
rs762280202
|
0.00001
|
NM_001365951.3(KIF1B):c.791G>A (p.Arg264Gln)
|
rs376807805
|
0.00001
|
NM_001370298.3(FGD4):c.1098T>G (p.Asp366Glu)
|
rs765738675
|
0.00001
|
NM_001370298.3(FGD4):c.1136G>A (p.Arg379Gln)
|
rs372866502
|
0.00001
|
NM_001370298.3(FGD4):c.1235G>A (p.Arg412Gln)
|
rs756169087
|
0.00001
|
NM_001370298.3(FGD4):c.1276C>T (p.Leu426Phe)
|
rs1204289708
|
0.00001
|
NM_001370298.3(FGD4):c.1348G>A (p.Val450Ile)
|
rs768392772
|
0.00001
|
NM_001370298.3(FGD4):c.1366C>T (p.Arg456Cys)
|
rs1131691854
|
0.00001
|
NM_001370298.3(FGD4):c.1404+5T>C
|
rs373712001
|
0.00001
|
NM_001370298.3(FGD4):c.1472G>A (p.Arg491Gln)
|
rs1415031307
|
0.00001
|
NM_001370298.3(FGD4):c.1502G>C (p.Arg501Thr)
|
rs755934741
|
0.00001
|
NM_001370298.3(FGD4):c.1603-9A>G
|
rs1555217855
|
0.00001
|
NM_001370298.3(FGD4):c.1603G>A (p.Glu535Lys)
|
rs756885149
|
0.00001
|
NM_001370298.3(FGD4):c.1609C>G (p.Leu537Val)
|
rs750265200
|
0.00001
|
NM_001370298.3(FGD4):c.1749+3G>A
|
rs542398408
|
0.00001
|
NM_001370298.3(FGD4):c.1846G>A (p.Val616Ile)
|
rs1949690181
|
0.00001
|
NM_001370298.3(FGD4):c.1936A>G (p.Lys646Glu)
|
rs1217036684
|
0.00001
|
NM_001370298.3(FGD4):c.1963G>A (p.Glu655Lys)
|
rs769604865
|
0.00001
|
NM_001370298.3(FGD4):c.1972G>A (p.Asp658Asn)
|
rs774787616
|
0.00001
|
NM_001370298.3(FGD4):c.2263A>G (p.Ile755Val)
|
rs764635514
|
0.00001
|
NM_001370298.3(FGD4):c.2402G>C (p.Cys801Ser)
|
rs749404822
|
0.00001
|
NM_001370298.3(FGD4):c.2523C>A (p.Asp841Glu)
|
rs751777807
|
0.00001
|
NM_001370298.3(FGD4):c.2597A>G (p.Gln866Arg)
|
rs777302433
|
0.00001
|
NM_001370298.3(FGD4):c.2608A>G (p.Lys870Glu)
|
rs746459196
|
0.00001
|
NM_001370298.3(FGD4):c.2610A>C (p.Lys870Asn)
|
rs770729087
|
0.00001
|
NM_001370298.3(FGD4):c.2645G>T (p.Gly882Val)
|
rs1951104872
|
0.00001
|
NM_001370298.3(FGD4):c.430G>A (p.Ala144Thr)
|
rs374980260
|
0.00001
|
NM_001370298.3(FGD4):c.499_501dup (p.Gly167_Ser168insGly)
|
rs1223446306
|
0.00001
|
NM_001370298.3(FGD4):c.593C>T (p.Thr198Ile)
|
rs1390487641
|
0.00001
|
NM_001370298.3(FGD4):c.595C>T (p.Pro199Ser)
|
rs1555209302
|
0.00001
|
NM_001370298.3(FGD4):c.596C>T (p.Pro199Leu)
|
rs747690428
|
0.00001
|
NM_001370298.3(FGD4):c.638G>A (p.Gly213Glu)
|
rs61754560
|
0.00001
|
NM_001370298.3(FGD4):c.674G>A (p.Cys225Tyr)
|
rs201660852
|
0.00001
|
NM_001370298.3(FGD4):c.708G>T (p.Gln236His)
|
rs936490141
|
0.00001
|
NM_001370298.3(FGD4):c.721G>A (p.Glu241Lys)
|
rs752621629
|
0.00001
|
NM_001370298.3(FGD4):c.789C>G (p.His263Gln)
|
rs757469397
|
0.00001
|
NM_001370298.3(FGD4):c.790A>G (p.Ile264Val)
|
rs768685900
|
0.00001
|
NM_001370298.3(FGD4):c.809A>G (p.Asp270Gly)
|
rs759415605
|
0.00001
|
NM_001370298.3(FGD4):c.848G>T (p.Ser283Ile)
|
rs1208033042
|
0.00001
|
NM_001370298.3(FGD4):c.871A>G (p.Ser291Gly)
|
rs1242400732
|
0.00001
|
NM_001370298.3(FGD4):c.949G>A (p.Glu317Lys)
|
rs148406003
|
0.00001
|
NM_001370298.3(FGD4):c.984G>T (p.Glu328Asp)
|
rs1487363420
|
0.00001
|
NM_001376.5(DYNC1H1):c.10070A>G (p.Glu3357Gly)
|
rs1458996905
|
0.00001
|
NM_001376.5(DYNC1H1):c.10241A>G (p.Asn3414Ser)
|
rs1555411393
|
0.00001
|
NM_001376.5(DYNC1H1):c.10333G>A (p.Ala3445Thr)
|
rs755126314
|
0.00001
|
NM_001376.5(DYNC1H1):c.10336C>T (p.Arg3446Cys)
|
rs1407151844
|
0.00001
|
NM_001376.5(DYNC1H1):c.1061G>A (p.Arg354Lys)
|
rs1020301877
|
0.00001
|
NM_001376.5(DYNC1H1):c.10657C>G (p.Leu3553Val)
|
rs1595626695
|
0.00001
|
NM_001376.5(DYNC1H1):c.10682G>A (p.Arg3561His)
|
rs1064796932
|
0.00001
|
NM_001376.5(DYNC1H1):c.10703C>T (p.Pro3568Leu)
|
rs148203153
|
0.00001
|
NM_001376.5(DYNC1H1):c.10960C>T (p.Arg3654Trp)
|
rs2048604040
|
0.00001
|
NM_001376.5(DYNC1H1):c.11176G>A (p.Glu3726Lys)
|
rs2048608186
|
0.00001
|
NM_001376.5(DYNC1H1):c.11206+4G>T
|
rs1164135384
|
0.00001
|
NM_001376.5(DYNC1H1):c.11457G>C (p.Lys3819Asn)
|
rs756719644
|
0.00001
|
NM_001376.5(DYNC1H1):c.11543G>T (p.Gly3848Val)
|
rs754712755
|
0.00001
|
NM_001376.5(DYNC1H1):c.1165A>G (p.Ser389Gly)
|
rs1239478672
|
0.00001
|
NM_001376.5(DYNC1H1):c.11764C>T (p.Pro3922Ser)
|
rs1288938461
|
0.00001
|
NM_001376.5(DYNC1H1):c.11776G>C (p.Gly3926Arg)
|
rs879254035
|
0.00001
|
NM_001376.5(DYNC1H1):c.11863G>A (p.Glu3955Lys)
|
rs767837334
|
0.00001
|
NM_001376.5(DYNC1H1):c.12005T>C (p.Leu4002Ser)
|
rs771049687
|
0.00001
|
NM_001376.5(DYNC1H1):c.12112A>C (p.Asn4038His)
|
rs1271427633
|
0.00001
|
NM_001376.5(DYNC1H1):c.12115A>G (p.Thr4039Ala)
|
rs774809334
|
0.00001
|
NM_001376.5(DYNC1H1):c.12418C>T (p.Arg4140Cys)
|
rs764278958
|
0.00001
|
NM_001376.5(DYNC1H1):c.12422C>T (p.Ala4141Val)
|
rs751754403
|
0.00001
|
NM_001376.5(DYNC1H1):c.12512A>G (p.Lys4171Arg)
|
rs771674356
|
0.00001
|
NM_001376.5(DYNC1H1):c.12573A>G (p.Gln4191=)
|
rs760020083
|
0.00001
|
NM_001376.5(DYNC1H1):c.12589G>A (p.Ala4197Thr)
|
rs879254018
|
0.00001
|
NM_001376.5(DYNC1H1):c.12677C>G (p.Thr4226Arg)
|
rs776972173
|
0.00001
|
NM_001376.5(DYNC1H1):c.12812G>A (p.Arg4271His)
|
rs1434208432
|
0.00001
|
NM_001376.5(DYNC1H1):c.12883C>G (p.Gln4295Glu)
|
rs772591144
|
0.00001
|
NM_001376.5(DYNC1H1):c.12905G>A (p.Arg4302Gln)
|
rs755680664
|
0.00001
|
NM_001376.5(DYNC1H1):c.13105A>G (p.Thr4369Ala)
|
rs1446933049
|
0.00001
|
NM_001376.5(DYNC1H1):c.13286A>G (p.Gln4429Arg)
|
rs763724110
|
0.00001
|
NM_001376.5(DYNC1H1):c.13396C>T (p.His4466Tyr)
|
rs1431567490
|
0.00001
|
NM_001376.5(DYNC1H1):c.13501G>A (p.Ala4501Thr)
|
rs1341526440
|
0.00001
|
NM_001376.5(DYNC1H1):c.13529G>T (p.Cys4510Phe)
|
rs888890361
|
0.00001
|
NM_001376.5(DYNC1H1):c.1360C>T (p.Pro454Ser)
|
rs1362114769
|
0.00001
|
NM_001376.5(DYNC1H1):c.13663G>A (p.Ala4555Thr)
|
rs375286762
|
0.00001
|
NM_001376.5(DYNC1H1):c.13682C>T (p.Thr4561Met)
|
rs1376784009
|
0.00001
|
NM_001376.5(DYNC1H1):c.13812+6G>A
|
rs1258593391
|
0.00001
|
NM_001376.5(DYNC1H1):c.13912C>T (p.Arg4638Trp)
|
rs200224597
|
0.00001
|
NM_001376.5(DYNC1H1):c.1461+4A>G
|
rs767995276
|
0.00001
|
NM_001376.5(DYNC1H1):c.1620A>G (p.Lys540=)
|
rs1213499788
|
0.00001
|
NM_001376.5(DYNC1H1):c.1650G>A (p.Met550Ile)
|
rs1469299067
|
0.00001
|
NM_001376.5(DYNC1H1):c.1713G>T (p.Gln571His)
|
rs746635345
|
0.00001
|
NM_001376.5(DYNC1H1):c.1774T>C (p.Phe592Leu)
|
rs1371614408
|
0.00001
|
NM_001376.5(DYNC1H1):c.184C>A (p.Leu62Met)
|
rs777022618
|
0.00001
|
NM_001376.5(DYNC1H1):c.1916G>A (p.Arg639His)
|
rs1244748017
|
0.00001
|
NM_001376.5(DYNC1H1):c.2052G>C (p.Gln684His)
|
rs1462327866
|
0.00001
|
NM_001376.5(DYNC1H1):c.2147G>A (p.Arg716His)
|
rs759802064
|
0.00001
|
NM_001376.5(DYNC1H1):c.2294T>C (p.Val765Ala)
|
rs1001125376
|
0.00001
|
NM_001376.5(DYNC1H1):c.2504G>A (p.Arg835His)
|
rs1463717963
|
0.00001
|
NM_001376.5(DYNC1H1):c.2584C>T (p.Arg862Cys)
|
rs865971340
|
0.00001
|
NM_001376.5(DYNC1H1):c.3015+3A>G
|
rs1057522534
|
0.00001
|
NM_001376.5(DYNC1H1):c.3107C>T (p.Ser1036Leu)
|
rs369033191
|
0.00001
|
NM_001376.5(DYNC1H1):c.3130G>T (p.Val1044Leu)
|
rs1035544174
|
0.00001
|
NM_001376.5(DYNC1H1):c.3218G>A (p.Gly1073Glu)
|
rs775900761
|
0.00001
|
NM_001376.5(DYNC1H1):c.3444+3G>A
|
rs1475876803
|
0.00001
|
NM_001376.5(DYNC1H1):c.345-3T>G
|
rs1060502203
|
0.00001
|
NM_001376.5(DYNC1H1):c.3572G>A (p.Arg1191His)
|
rs1003718521
|
0.00001
|
NM_001376.5(DYNC1H1):c.3583C>T (p.Arg1195Cys)
|
rs767427937
|
0.00001
|
NM_001376.5(DYNC1H1):c.3743G>A (p.Arg1248Gln)
|
rs779578539
|
0.00001
|
NM_001376.5(DYNC1H1):c.3980A>G (p.Gln1327Arg)
|
rs763711252
|
0.00001
|
NM_001376.5(DYNC1H1):c.4454G>A (p.Arg1485His)
|
rs1305558731
|
0.00001
|
NM_001376.5(DYNC1H1):c.4542+6G>A
|
rs375822798
|
0.00001
|
NM_001376.5(DYNC1H1):c.4627C>T (p.Arg1543Trp)
|
rs1312121057
|
0.00001
|
NM_001376.5(DYNC1H1):c.4651T>C (p.Phe1551Leu)
|
rs762246186
|
0.00001
|
NM_001376.5(DYNC1H1):c.4765A>G (p.Met1589Val)
|
rs376671826
|
0.00001
|
NM_001376.5(DYNC1H1):c.4943C>G (p.Ala1648Gly)
|
rs2048175185
|
0.00001
|
NM_001376.5(DYNC1H1):c.4976C>T (p.Ala1659Val)
|
rs1452214964
|
0.00001
|
NM_001376.5(DYNC1H1):c.5002G>A (p.Glu1668Lys)
|
rs925942859
|
0.00001
|
NM_001376.5(DYNC1H1):c.5017G>A (p.Val1673Ile)
|
rs2048176208
|
0.00001
|
NM_001376.5(DYNC1H1):c.503C>G (p.Ser168Cys)
|
rs1321265961
|
0.00001
|
NM_001376.5(DYNC1H1):c.5050G>A (p.Val1684Ile)
|
rs781664182
|
0.00001
|
NM_001376.5(DYNC1H1):c.5155G>A (p.Glu1719Lys)
|
rs1555409562
|
0.00001
|
NM_001376.5(DYNC1H1):c.5225T>C (p.Ile1742Thr)
|
rs1555409568
|
0.00001
|
NM_001376.5(DYNC1H1):c.5251G>T (p.Val1751Phe)
|
rs1441272851
|
0.00001
|
NM_001376.5(DYNC1H1):c.5392A>G (p.Met1798Val)
|
rs2048183332
|
0.00001
|
NM_001376.5(DYNC1H1):c.5433+4A>G
|
rs558658822
|
0.00001
|
NM_001376.5(DYNC1H1):c.5660G>A (p.Arg1887His)
|
rs768520247
|
0.00001
|
NM_001376.5(DYNC1H1):c.5800G>A (p.Glu1934Lys)
|
rs1424457974
|
0.00001
|
NM_001376.5(DYNC1H1):c.5976G>A (p.Lys1992=)
|
rs895478584
|
0.00001
|
NM_001376.5(DYNC1H1):c.6405+4C>T
|
rs868691855
|
0.00001
|
NM_001376.5(DYNC1H1):c.6405+5G>A
|
rs774226163
|
0.00001
|
NM_001376.5(DYNC1H1):c.6502G>A (p.Val2168Ile)
|
rs1567010429
|
0.00001
|
NM_001376.5(DYNC1H1):c.66G>C (p.Gln22His)
|
rs1377924324
|
0.00001
|
NM_001376.5(DYNC1H1):c.6739G>A (p.Val2247Met)
|
rs1064796963
|
0.00001
|
NM_001376.5(DYNC1H1):c.679C>A (p.Pro227Thr)
|
rs745425454
|
0.00001
|
NM_001376.5(DYNC1H1):c.6857+4C>T
|
rs374773368
|
0.00001
|
NM_001376.5(DYNC1H1):c.7078G>A (p.Gly2360Ser)
|
rs1473788247
|
0.00001
|
NM_001376.5(DYNC1H1):c.7186C>T (p.Arg2396Trp)
|
rs763030235
|
0.00001
|
NM_001376.5(DYNC1H1):c.7242+4C>T
|
rs760664042
|
0.00001
|
NM_001376.5(DYNC1H1):c.7242+5G>A
|
rs770870431
|
0.00001
|
NM_001376.5(DYNC1H1):c.7274C>A (p.Pro2425Gln)
|
rs1406145337
|
0.00001
|
NM_001376.5(DYNC1H1):c.7291G>A (p.Gly2431Ser)
|
rs773669775
|
0.00001
|
NM_001376.5(DYNC1H1):c.7349C>T (p.Thr2450Ile)
|
rs1595617173
|
0.00001
|
NM_001376.5(DYNC1H1):c.7399C>T (p.Arg2467Cys)
|
rs2048316541
|
0.00001
|
NM_001376.5(DYNC1H1):c.7475G>A (p.Arg2492Gln)
|
rs1292509595
|
0.00001
|
NM_001376.5(DYNC1H1):c.7829G>A (p.Arg2610Gln)
|
rs1595617746
|
0.00001
|
NM_001376.5(DYNC1H1):c.7864T>C (p.Phe2622Leu)
|
rs1237088147
|
0.00001
|
NM_001376.5(DYNC1H1):c.8038A>G (p.Ile2680Val)
|
rs1308813075
|
0.00001
|
NM_001376.5(DYNC1H1):c.8177+6A>G
|
rs190495300
|
0.00001
|
NM_001376.5(DYNC1H1):c.8178G>A (p.Arg2726=)
|
rs777685040
|
0.00001
|
NM_001376.5(DYNC1H1):c.8186G>A (p.Arg2729His)
|
rs1000550855
|
0.00001
|
NM_001376.5(DYNC1H1):c.8343+4C>T
|
rs771447934
|
0.00001
|
NM_001376.5(DYNC1H1):c.8343+5G>A
|
rs369653555
|
0.00001
|
NM_001376.5(DYNC1H1):c.8426C>T (p.Ala2809Val)
|
rs759983101
|
0.00001
|
NM_001376.5(DYNC1H1):c.8468G>A (p.Arg2823Gln)
|
rs1034689180
|
0.00001
|
NM_001376.5(DYNC1H1):c.8507+3A>G
|
rs1167512575
|
0.00001
|
NM_001376.5(DYNC1H1):c.8519A>G (p.Asp2840Gly)
|
rs1475477801
|
0.00001
|
NM_001376.5(DYNC1H1):c.8677G>A (p.Val2893Ile)
|
rs1285270824
|
0.00001
|
NM_001376.5(DYNC1H1):c.8749G>A (p.Asp2917Asn)
|
rs1595622920
|
0.00001
|
NM_001376.5(DYNC1H1):c.8843G>A (p.Arg2948His)
|
rs780690762
|
0.00001
|
NM_001376.5(DYNC1H1):c.8876A>G (p.Tyr2959Cys)
|
rs797045536
|
0.00001
|
NM_001376.5(DYNC1H1):c.8886+4C>T
|
rs1349379812
|
0.00001
|
NM_001376.5(DYNC1H1):c.8954G>C (p.Cys2985Ser)
|
rs1269870036
|
0.00001
|
NM_001376.5(DYNC1H1):c.9077A>G (p.Tyr3026Cys)
|
rs1032073396
|
0.00001
|
NM_001376.5(DYNC1H1):c.9179G>A (p.Arg3060His)
|
rs1408182872
|
0.00001
|
NM_001376.5(DYNC1H1):c.9193G>A (p.Val3065Met)
|
rs377668381
|
0.00001
|
NM_001376.5(DYNC1H1):c.9263+3A>G
|
rs751390841
|
0.00001
|
NM_001376.5(DYNC1H1):c.940G>A (p.Val314Ile)
|
rs747831868
|
0.00001
|
NM_001376.5(DYNC1H1):c.9565G>A (p.Glu3189Lys)
|
rs756550022
|
0.00001
|
NM_001376.5(DYNC1H1):c.9642+13C>T
|
rs760557941
|
0.00001
|
NM_001376.5(DYNC1H1):c.9714C>G (p.Asp3238Glu)
|
rs1220860441
|
0.00001
|
NM_001376.5(DYNC1H1):c.9762+6G>A
|
rs773552333
|
0.00001
|
NM_001376.5(DYNC1H1):c.994T>C (p.Tyr332His)
|
rs764842673
|
0.00001
|
NM_001540.5(HSPB1):c.117G>A (p.Pro39=)
|
rs752555764
|
0.00001
|
NM_001540.5(HSPB1):c.127T>C (p.Ser43Pro)
|
rs1346600366
|
0.00001
|
NM_001540.5(HSPB1):c.142G>A (p.Gly48Ser)
|
rs546699221
|
0.00001
|
NM_001540.5(HSPB1):c.17T>C (p.Val6Ala)
|
rs773864816
|
0.00001
|
NM_001540.5(HSPB1):c.226G>C (p.Ala76Pro)
|
rs968191590
|
0.00001
|
NM_001540.5(HSPB1):c.229C>T (p.Leu77Phe)
|
rs1231796327
|
0.00001
|
NM_001540.5(HSPB1):c.236G>A (p.Arg79Gln)
|
rs926257693
|
0.00001
|
NM_001540.5(HSPB1):c.253G>T (p.Val85Phe)
|
rs773758650
|
0.00001
|
NM_001540.5(HSPB1):c.257C>T (p.Ser86Leu)
|
rs749378020
|
0.00001
|
NM_001540.5(HSPB1):c.266G>A (p.Arg89Gln)
|
rs1060503022
|
0.00001
|
NM_001540.5(HSPB1):c.280C>A (p.Arg94Ser)
|
rs767672401
|
0.00001
|
NM_001540.5(HSPB1):c.286C>A (p.Arg96Ser)
|
rs761660005
|
0.00001
|
NM_001540.5(HSPB1):c.29T>A (p.Leu10His)
|
rs772216758
|
0.00001
|
NM_001540.5(HSPB1):c.349G>A (p.Val117Met)
|
rs1803031652
|
0.00001
|
NM_001540.5(HSPB1):c.356A>T (p.Glu119Val)
|
rs759984050
|
0.00001
|
NM_001540.5(HSPB1):c.365-5_365-4del
|
rs752802110
|
0.00001
|
NM_001540.5(HSPB1):c.425A>G (p.Tyr142Cys)
|
rs1276548832
|
0.00001
|
NM_001540.5(HSPB1):c.428C>A (p.Thr143Lys)
|
rs748414486
|
0.00001
|
NM_001540.5(HSPB1):c.429-3C>T
|
rs1353004501
|
0.00001
|
NM_001540.5(HSPB1):c.451A>C (p.Thr151Pro)
|
rs771232749
|
0.00001
|
NM_001540.5(HSPB1):c.47G>A (p.Trp16Ter)
|
rs973126266
|
0.00001
|
NM_001540.5(HSPB1):c.491C>T (p.Thr164Ile)
|
rs1193492001
|
0.00001
|
NM_001540.5(HSPB1):c.508C>A (p.Pro170Thr)
|
rs544435502
|
0.00001
|
NM_001540.5(HSPB1):c.570G>C (p.Gln190His)
|
rs764297134
|
0.00001
|
NM_001540.5(HSPB1):c.572_584del (p.Leu191fs)
|
rs771457306
|
0.00001
|
NM_001540.5(HSPB1):c.91C>G (p.Gln31Glu)
|
rs775728229
|
0.00001
|
NM_001605.3(AARS1):c.1003G>A (p.Ala335Thr)
|
rs765846298
|
0.00001
|
NM_001605.3(AARS1):c.1007A>G (p.His336Arg)
|
rs1025002934
|
0.00001
|
NM_001605.3(AARS1):c.1067C>T (p.Ser356Phe)
|
rs771898925
|
0.00001
|
NM_001605.3(AARS1):c.1073G>T (p.Gly358Val)
|
rs370368784
|
0.00001
|
NM_001605.3(AARS1):c.1075G>A (p.Asp359Asn)
|
rs1130535
|
0.00001
|
NM_001605.3(AARS1):c.1079C>G (p.Ala360Gly)
|
rs561829699
|
0.00001
|
NM_001605.3(AARS1):c.1093A>G (p.Lys365Glu)
|
rs774143119
|
0.00001
|
NM_001605.3(AARS1):c.1110G>C (p.Met370Ile)
|
rs1468385890
|
0.00001
|
NM_001605.3(AARS1):c.1120A>G (p.Ile374Val)
|
rs142128800
|
0.00001
|
NM_001605.3(AARS1):c.1168C>T (p.Arg390Cys)
|
rs759713590
|
0.00001
|
NM_001605.3(AARS1):c.1220C>A (p.Pro407His)
|
rs770557635
|
0.00001
|
NM_001605.3(AARS1):c.1261C>G (p.Pro421Ala)
|
rs1157450521
|
0.00001
|
NM_001605.3(AARS1):c.1285G>A (p.Ala429Thr)
|
rs1446399906
|
0.00001
|
NM_001605.3(AARS1):c.1334G>T (p.Arg445Met)
|
rs776515117
|
0.00001
|
NM_001605.3(AARS1):c.1347+14A>T
|
rs915904032
|
0.00001
|
NM_001605.3(AARS1):c.1388T>C (p.Ile463Thr)
|
rs1597439359
|
0.00001
|
NM_001605.3(AARS1):c.1426C>T (p.Arg476Trp)
|
rs780059987
|
0.00001
|
NM_001605.3(AARS1):c.1435G>A (p.Glu479Lys)
|
rs146082956
|
0.00001
|
NM_001605.3(AARS1):c.1504A>G (p.Thr502Ala)
|
rs758003106
|
0.00001
|
NM_001605.3(AARS1):c.1537A>C (p.Lys513Gln)
|
rs1960156160
|
0.00001
|
NM_001605.3(AARS1):c.155T>C (p.Ile52Thr)
|
rs200582917
|
0.00001
|
NM_001605.3(AARS1):c.1561A>G (p.Thr521Ala)
|
rs369465026
|
0.00001
|
NM_001605.3(AARS1):c.1588G>A (p.Asp530Asn)
|
rs1479302877
|
0.00001
|
NM_001605.3(AARS1):c.1604A>G (p.Tyr535Cys)
|
rs756650948
|
0.00001
|
NM_001605.3(AARS1):c.1624A>T (p.Ile542Phe)
|
rs572187967
|
0.00001
|
NM_001605.3(AARS1):c.1633G>A (p.Glu545Lys)
|
rs764124393
|
0.00001
|
NM_001605.3(AARS1):c.1664G>T (p.Ser555Ile)
|
rs144982168
|
0.00001
|
NM_001605.3(AARS1):c.169A>G (p.Ile57Val)
|
rs372131127
|
0.00001
|
NM_001605.3(AARS1):c.170T>C (p.Ile57Thr)
|
rs567262501
|
0.00001
|
NM_001605.3(AARS1):c.1726A>C (p.Ile576Leu)
|
rs755027471
|
0.00001
|
NM_001605.3(AARS1):c.1727T>C (p.Ile576Thr)
|
rs753863962
|
0.00001
|
NM_001605.3(AARS1):c.1764G>C (p.Gln588His)
|
rs771478786
|
0.00001
|
NM_001605.3(AARS1):c.176C>T (p.Pro59Leu)
|
rs1337985053
|
0.00001
|
NM_001605.3(AARS1):c.1790G>A (p.Arg597Gln)
|
rs777597230
|
0.00001
|
NM_001605.3(AARS1):c.1805T>C (p.Met602Thr)
|
rs1319699374
|
0.00001
|
NM_001605.3(AARS1):c.1840G>T (p.Ala614Ser)
|
rs780198710
|
0.00001
|
NM_001605.3(AARS1):c.1894G>C (p.Asp632His)
|
rs765977339
|
0.00001
|
NM_001605.3(AARS1):c.1907T>G (p.Phe636Cys)
|
rs766999932
|
0.00001
|
NM_001605.3(AARS1):c.1943A>G (p.Gln648Arg)
|
rs746047868
|
0.00001
|
NM_001605.3(AARS1):c.1949A>G (p.Lys650Arg)
|
rs142233951
|
0.00001
|
NM_001605.3(AARS1):c.1997T>C (p.Val666Ala)
|
rs145056270
|
0.00001
|
NM_001605.3(AARS1):c.2027C>T (p.Ala676Val)
|
rs371114066
|
0.00001
|
NM_001605.3(AARS1):c.2047C>T (p.Arg683Trp)
|
rs866956348
|
0.00001
|
NM_001605.3(AARS1):c.2048G>A (p.Arg683Gln)
|
rs371048516
|
0.00001
|
NM_001605.3(AARS1):c.2084G>A (p.Arg695Gln)
|
rs377378009
|
0.00001
|
NM_001605.3(AARS1):c.2095A>T (p.Ile699Phe)
|
rs1427798398
|
0.00001
|
NM_001605.3(AARS1):c.2118G>C (p.Leu706Phe)
|
rs201097032
|
0.00001
|
NM_001605.3(AARS1):c.2137C>T (p.Pro713Ser)
|
rs750769245
|
0.00001
|
NM_001605.3(AARS1):c.2267C>T (p.Thr756Ile)
|
rs769394060
|
0.00001
|
NM_001605.3(AARS1):c.226A>G (p.Ile76Val)
|
rs1274784611
|
0.00001
|
NM_001605.3(AARS1):c.2285A>G (p.Lys762Arg)
|
rs1224948634
|
0.00001
|
NM_001605.3(AARS1):c.2288C>T (p.Ala763Val)
|
rs777776042
|
0.00001
|
NM_001605.3(AARS1):c.2335G>A (p.Ala779Thr)
|
rs767954906
|
0.00001
|
NM_001605.3(AARS1):c.2395G>A (p.Gly799Arg)
|
rs1161734697
|
0.00001
|
NM_001605.3(AARS1):c.2396G>T (p.Gly799Val)
|
rs1959931902
|
0.00001
|
NM_001605.3(AARS1):c.2440G>A (p.Glu814Lys)
|
rs533029846
|
0.00001
|
NM_001605.3(AARS1):c.2453C>T (p.Thr818Ile)
|
rs753158346
|
0.00001
|
NM_001605.3(AARS1):c.2478G>A (p.Met826Ile)
|
rs1385044712
|
0.00001
|
NM_001605.3(AARS1):c.2491C>T (p.Arg831Ter)
|
rs1959913185
|
0.00001
|
NM_001605.3(AARS1):c.2562C>G (p.Asn854Lys)
|
rs1260237711
|
0.00001
|
NM_001605.3(AARS1):c.2569C>G (p.Leu857Val)
|
rs780261077
|
0.00001
|
NM_001605.3(AARS1):c.259G>A (p.Asp87Asn)
|
rs763757370
|
0.00001
|
NM_001605.3(AARS1):c.2628G>C (p.Lys876Asn)
|
rs758488318
|
0.00001
|
NM_001605.3(AARS1):c.2629C>G (p.Leu877Val)
|
rs1959893208
|
0.00001
|
NM_001605.3(AARS1):c.2665C>T (p.Leu889Phe)
|
rs751242154
|
0.00001
|
NM_001605.3(AARS1):c.267C>T (p.Gly89=)
|
rs1960568594
|
0.00001
|
NM_001605.3(AARS1):c.2686G>A (p.Ala896Thr)
|
rs1295851671
|
0.00001
|
NM_001605.3(AARS1):c.2721+3C>G
|
rs1318032456
|
0.00001
|
NM_001605.3(AARS1):c.2735G>A (p.Arg912Gln)
|
rs777686119
|
0.00001
|
NM_001605.3(AARS1):c.2845C>G (p.Gln949Glu)
|
rs375263515
|
0.00001
|
NM_001605.3(AARS1):c.284A>C (p.His95Pro)
|
rs764793550
|
0.00001
|
NM_001605.3(AARS1):c.295G>A (p.Glu99Lys)
|
rs777170136
|
0.00001
|
NM_001605.3(AARS1):c.310T>C (p.Trp104Arg)
|
rs1057520616
|
0.00001
|
NM_001605.3(AARS1):c.479+5G>T
|
rs1487772006
|
0.00001
|
NM_001605.3(AARS1):c.482T>C (p.Leu161Pro)
|
rs1960417011
|
0.00001
|
NM_001605.3(AARS1):c.506G>A (p.Gly169Asp)
|
rs1362856733
|
0.00001
|
NM_001605.3(AARS1):c.510C>A (p.Asn170Lys)
|
rs775904247
|
0.00001
|
NM_001605.3(AARS1):c.56A>G (p.Lys19Arg)
|
rs776616726
|
0.00001
|
NM_001605.3(AARS1):c.577G>A (p.Asp193Asn)
|
rs376700046
|
0.00001
|
NM_001605.3(AARS1):c.580C>T (p.Arg194Trp)
|
rs764675357
|
0.00001
|
NM_001605.3(AARS1):c.581G>A (p.Arg194Gln)
|
rs1033300766
|
0.00001
|
NM_001605.3(AARS1):c.5A>G (p.Asp2Gly)
|
rs1485992879
|
0.00001
|
NM_001605.3(AARS1):c.620A>G (p.Asp207Gly)
|
rs1960410669
|
0.00001
|
NM_001605.3(AARS1):c.663G>C (p.Gln221His)
|
rs1028028699
|
0.00001
|
NM_001605.3(AARS1):c.704A>G (p.Lys235Arg)
|
rs755350912
|
0.00001
|
NM_001605.3(AARS1):c.70A>C (p.Thr24Pro)
|
rs768158204
|
0.00001
|
NM_001605.3(AARS1):c.71C>T (p.Thr24Met)
|
rs1227942516
|
0.00001
|
NM_001605.3(AARS1):c.726G>A (p.Met242Ile)
|
rs780360628
|
0.00001
|
NM_001605.3(AARS1):c.760A>C (p.Lys254Gln)
|
rs770790585
|
0.00001
|
NM_001605.3(AARS1):c.783C>G (p.Asp261Glu)
|
rs1374950172
|
0.00001
|
NM_001605.3(AARS1):c.829C>T (p.Arg277Ter)
|
rs200032881
|
0.00001
|
NM_001605.3(AARS1):c.835T>C (p.Tyr279His)
|
rs1232484436
|
0.00001
|
NM_001605.3(AARS1):c.848T>C (p.Val283Ala)
|
rs761545263
|
0.00001
|
NM_001605.3(AARS1):c.886C>T (p.Arg296Trp)
|
rs1225401608
|
0.00001
|
NM_001605.3(AARS1):c.889G>C (p.Val297Leu)
|
rs1329713999
|
0.00001
|
NM_001605.3(AARS1):c.8C>G (p.Ser3Cys)
|
rs946227383
|
0.00001
|
NM_001605.3(AARS1):c.907C>T (p.Arg303Trp)
|
rs1302363015
|
0.00001
|
NM_001605.3(AARS1):c.919G>A (p.Val307Met)
|
rs1316227824
|
0.00001
|
NM_001605.3(AARS1):c.91A>G (p.Thr31Ala)
|
rs886052256
|
0.00001
|
NM_001605.3(AARS1):c.935G>A (p.Gly312Asp)
|
rs777824151
|
0.00001
|
NM_001605.3(AARS1):c.952A>G (p.Thr318Ala)
|
rs868291701
|
0.00001
|
NM_001605.3(AARS1):c.963A>G (p.Gly321=)
|
rs775592737
|
0.00001
|
NM_001605.3(AARS1):c.998G>A (p.Arg333Gln)
|
rs778511459
|
0.00001
|
NM_002047.4(GARS1):c.1000A>G (p.Ile334Val)
|
rs1554338260
|
0.00001
|
NM_002047.4(GARS1):c.101G>A (p.Arg34Gln)
|
rs1189675611
|
0.00001
|
NM_002047.4(GARS1):c.1042A>G (p.Met348Val)
|
rs368832379
|
0.00001
|
NM_002047.4(GARS1):c.1087C>G (p.Pro363Ala)
|
rs267601479
|
0.00001
|
NM_002047.4(GARS1):c.1234C>T (p.Arg412Cys)
|
rs770924455
|
0.00001
|
NM_002047.4(GARS1):c.1253C>T (p.Thr418Met)
|
rs746139865
|
0.00001
|
NM_002047.4(GARS1):c.125C>T (p.Pro42Leu)
|
rs1316245045
|
0.00001
|
NM_002047.4(GARS1):c.1268C>T (p.Ser423Phe)
|
rs774169230
|
0.00001
|
NM_002047.4(GARS1):c.1359+1G>A
|
rs868796615
|
0.00001
|
NM_002047.4(GARS1):c.1399T>A (p.Tyr467Asn)
|
rs368388267
|
0.00001
|
NM_002047.4(GARS1):c.1432G>A (p.Val478Ile)
|
rs1238026762
|
0.00001
|
NM_002047.4(GARS1):c.1454C>T (p.Pro485Leu)
|
rs1159290036
|
0.00001
|
NM_002047.4(GARS1):c.1487A>G (p.Gln496Arg)
|
rs1325522512
|
0.00001
|
NM_002047.4(GARS1):c.1511T>C (p.Ile504Thr)
|
rs762264480
|
0.00001
|
NM_002047.4(GARS1):c.1573T>C (p.Cys525Arg)
|
rs752812365
|
0.00001
|
NM_002047.4(GARS1):c.1612G>C (p.Gly538Arg)
|
rs1415135637
|
0.00001
|
NM_002047.4(GARS1):c.1624A>G (p.Ile542Val)
|
rs1060502837
|
0.00001
|
NM_002047.4(GARS1):c.1729C>A (p.Pro577Thr)
|
rs754547488
|
0.00001
|
NM_002047.4(GARS1):c.1751T>A (p.Ile584Asn)
|
rs864622616
|
0.00001
|
NM_002047.4(GARS1):c.1755G>A (p.Met585Ile)
|
rs780441296
|
0.00001
|
NM_002047.4(GARS1):c.1829T>C (p.Val610Ala)
|
rs1554340666
|
0.00001
|
NM_002047.4(GARS1):c.1859C>T (p.Pro620Leu)
|
rs892958904
|
0.00001
|
NM_002047.4(GARS1):c.186G>C (p.Glu62Asp)
|
rs1554336540
|
0.00001
|
NM_002047.4(GARS1):c.1904-3T>A
|
rs775575408
|
0.00001
|
NM_002047.4(GARS1):c.1905G>A (p.Ser635=)
|
rs773889809
|
0.00001
|
NM_002047.4(GARS1):c.1960A>G (p.Ile654Val)
|
rs1406586832
|
0.00001
|
NM_002047.4(GARS1):c.1969C>T (p.Arg657Cys)
|
rs781585447
|
0.00001
|
NM_002047.4(GARS1):c.2008G>C (p.Val670Leu)
|
rs376585160
|
0.00001
|
NM_002047.4(GARS1):c.2042C>T (p.Pro681Leu)
|
rs879254346
|
0.00001
|
NM_002047.4(GARS1):c.2044C>A (p.His682Asn)
|
rs1437642803
|
0.00001
|
NM_002047.4(GARS1):c.208G>C (p.Ala70Pro)
|
rs1008199275
|
0.00001
|
NM_002047.4(GARS1):c.2108C>T (p.Pro703Leu)
|
rs1002052289
|
0.00001
|
NM_002047.4(GARS1):c.2123A>T (p.Asp708Val)
|
rs776108138
|
0.00001
|
NM_002047.4(GARS1):c.2156T>C (p.Val719Ala)
|
rs750501453
|
0.00001
|
NM_002047.4(GARS1):c.2177T>C (p.Phe726Ser)
|
rs1397264514
|
0.00001
|
NM_002047.4(GARS1):c.227A>G (p.Asp76Gly)
|
rs780858299
|
0.00001
|
NM_002047.4(GARS1):c.281C>A (p.Ala94Glu)
|
rs1389930859
|
0.00001
|
NM_002047.4(GARS1):c.332C>T (p.Ala111Val)
|
rs370531212
|
0.00001
|
NM_002047.4(GARS1):c.352A>G (p.Ile118Val)
|
rs200025018
|
0.00001
|
NM_002047.4(GARS1):c.362G>A (p.Arg121Gln)
|
rs1363263798
|
0.00001
|
NM_002047.4(GARS1):c.37C>T (p.Arg13Cys)
|
rs1467460367
|
0.00001
|
NM_002047.4(GARS1):c.401A>G (p.Tyr134Cys)
|
rs898879117
|
0.00001
|
NM_002047.4(GARS1):c.436G>A (p.Gly146Ser)
|
rs1309618721
|
0.00001
|
NM_002047.4(GARS1):c.471G>C (p.Leu157Phe)
|
rs367915362
|
0.00001
|
NM_002047.4(GARS1):c.478A>G (p.Asn160Asp)
|
rs372198757
|
0.00001
|
NM_002047.4(GARS1):c.662A>G (p.His221Arg)
|
rs1279978899
|
0.00001
|
NM_002047.4(GARS1):c.668A>G (p.Gln223Arg)
|
rs750901652
|
0.00001
|
NM_002047.4(GARS1):c.671A>T (p.Lys224Ile)
|
rs756641901
|
0.00001
|
NM_002047.4(GARS1):c.733C>A (p.Gln245Lys)
|
rs756629704
|
0.00001
|
NM_002047.4(GARS1):c.737T>G (p.Leu246Arg)
|
rs200437855
|
0.00001
|
NM_002047.4(GARS1):c.843G>A (p.Met281Ile)
|
rs545669679
|
0.00001
|
NM_002047.4(GARS1):c.855C>G (p.Phe285Leu)
|
rs786204099
|
0.00001
|
NM_002047.4(GARS1):c.980G>C (p.Gly327Ala)
|
rs774283805
|
0.00001
|
NM_002180.3(IGHMBP2):c.1006G>A (p.Ala336Thr)
|
rs145076368
|
0.00001
|
NM_002180.3(IGHMBP2):c.1022G>A (p.Ser341Asn)
|
rs1022216138
|
0.00001
|
NM_002180.3(IGHMBP2):c.1036A>G (p.Asn346Asp)
|
rs567322475
|
0.00001
|
NM_002180.3(IGHMBP2):c.1051A>G (p.Thr351Ala)
|
rs1033402228
|
0.00001
|
NM_002180.3(IGHMBP2):c.1088T>C (p.Leu363Ser)
|
rs1398038802
|
0.00001
|
NM_002180.3(IGHMBP2):c.1096G>A (p.Glu366Lys)
|
rs759014082
|
0.00001
|
NM_002180.3(IGHMBP2):c.1106T>A (p.Phe369Tyr)
|
rs756791529
|
0.00001
|
NM_002180.3(IGHMBP2):c.1111G>A (p.Val371Met)
|
rs770912338
|
0.00001
|
NM_002180.3(IGHMBP2):c.1148C>T (p.Ala383Val)
|
rs876661217
|
0.00001
|
NM_002180.3(IGHMBP2):c.1154G>C (p.Cys385Ser)
|
rs372477029
|
0.00001
|
NM_002180.3(IGHMBP2):c.1241C>T (p.Ala414Val)
|
rs1465465295
|
0.00001
|
NM_002180.3(IGHMBP2):c.1263C>A (p.Ser421Arg)
|
rs749343954
|
0.00001
|
NM_002180.3(IGHMBP2):c.1277T>G (p.Leu426Arg)
|
rs1555247218
|
0.00001
|
NM_002180.3(IGHMBP2):c.1327C>T (p.Arg443Cys)
|
rs751549678
|
0.00001
|
NM_002180.3(IGHMBP2):c.1328G>A (p.Arg443His)
|
rs757304363
|
0.00001
|
NM_002180.3(IGHMBP2):c.1334A>G (p.His445Arg)
|
rs571142182
|
0.00001
|
NM_002180.3(IGHMBP2):c.1338G>T (p.Gln446His)
|
rs149628807
|
0.00001
|
NM_002180.3(IGHMBP2):c.1348C>T (p.Arg450Cys)
|
rs374363750
|
0.00001
|
NM_002180.3(IGHMBP2):c.1373T>G (p.Leu458Arg)
|
rs751446350
|
0.00001
|
NM_002180.3(IGHMBP2):c.1399G>C (p.Val467Leu)
|
rs755120725
|
0.00001
|
NM_002180.3(IGHMBP2):c.1442C>G (p.Thr481Arg)
|
rs1555247334
|
0.00001
|
NM_002180.3(IGHMBP2):c.1537+17A>G
|
rs1164525405
|
0.00001
|
NM_002180.3(IGHMBP2):c.1547G>A (p.Arg516His)
|
rs373017768
|
0.00001
|
NM_002180.3(IGHMBP2):c.1561C>T (p.His521Tyr)
|
rs759965718
|
0.00001
|
NM_002180.3(IGHMBP2):c.1652G>T (p.Ser551Ile)
|
rs768685672
|
0.00001
|
NM_002180.3(IGHMBP2):c.166C>T (p.Arg56Cys)
|
rs201649839
|
0.00001
|
NM_002180.3(IGHMBP2):c.167G>A (p.Arg56His)
|
rs571887680
|
0.00001
|
NM_002180.3(IGHMBP2):c.1756+5G>A
|
rs1352994155
|
0.00001
|
NM_002180.3(IGHMBP2):c.1808G>A (p.Arg603His)
|
rs151079750
|
0.00001
|
NM_002180.3(IGHMBP2):c.1810G>A (p.Ala604Thr)
|
rs1240484547
|
0.00001
|
NM_002180.3(IGHMBP2):c.1816C>T (p.Arg606Cys)
|
rs536556753
|
0.00001
|
NM_002180.3(IGHMBP2):c.1826C>T (p.Ala609Val)
|
rs776775995
|
0.00001
|
NM_002180.3(IGHMBP2):c.1833C>G (p.Ile611Met)
|
rs752495359
|
0.00001
|
NM_002180.3(IGHMBP2):c.1856A>G (p.Asn619Ser)
|
rs943195178
|
0.00001
|
NM_002180.3(IGHMBP2):c.185G>A (p.Arg62Gln)
|
rs774522176
|
0.00001
|
NM_002180.3(IGHMBP2):c.1874C>T (p.Thr625Ile)
|
rs886048605
|
0.00001
|
NM_002180.3(IGHMBP2):c.1888T>C (p.Phe630Leu)
|
rs1264599893
|
0.00001
|
NM_002180.3(IGHMBP2):c.1963A>T (p.Asn655Tyr)
|
rs375023053
|
0.00001
|
NM_002180.3(IGHMBP2):c.1984G>A (p.Ala662Thr)
|
rs370166700
|
0.00001
|
NM_002180.3(IGHMBP2):c.1990A>C (p.Thr664Pro)
|
rs1310268610
|
0.00001
|
NM_002180.3(IGHMBP2):c.1995G>C (p.Lys665Asn)
|
rs1317117261
|
0.00001
|
NM_002180.3(IGHMBP2):c.2002G>A (p.Gly668Arg)
|
rs1566446312
|
0.00001
|
NM_002180.3(IGHMBP2):c.2012C>T (p.Thr671Met)
|
rs377743886
|
0.00001
|
NM_002180.3(IGHMBP2):c.2036G>A (p.Arg679Gln)
|
rs767422655
|
0.00001
|
NM_002180.3(IGHMBP2):c.2081G>A (p.Arg694Gln)
|
rs943141487
|
0.00001
|
NM_002180.3(IGHMBP2):c.2097G>T (p.Gly699=)
|
rs372382180
|
0.00001
|
NM_002180.3(IGHMBP2):c.2123C>G (p.Ser708Cys)
|
rs1042372226
|
0.00001
|
NM_002180.3(IGHMBP2):c.212G>T (p.Arg71Leu)
|
rs766757770
|
0.00001
|
NM_002180.3(IGHMBP2):c.2155G>A (p.Gly719Arg)
|
rs1191974842
|
0.00001
|
NM_002180.3(IGHMBP2):c.2158G>A (p.Val720Met)
|
rs1462234845
|
0.00001
|
NM_002180.3(IGHMBP2):c.2173G>A (p.Gly725Ser)
|
rs771844457
|
0.00001
|
NM_002180.3(IGHMBP2):c.2194A>G (p.Met732Val)
|
rs750717921
|
0.00001
|
NM_002180.3(IGHMBP2):c.224C>T (p.Ala75Val)
|
rs1444267409
|
0.00001
|
NM_002180.3(IGHMBP2):c.2308G>A (p.Asp770Asn)
|
rs760946663
|
0.00001
|
NM_002180.3(IGHMBP2):c.2312G>T (p.Ser771Ile)
|
rs1317637789
|
0.00001
|
NM_002180.3(IGHMBP2):c.2359C>T (p.Pro787Ser)
|
rs543060051
|
0.00001
|
NM_002180.3(IGHMBP2):c.2363G>C (p.Arg788Pro)
|
rs769685389
|
0.00001
|
NM_002180.3(IGHMBP2):c.2365C>A (p.Pro789Thr)
|
rs761789207
|
0.00001
|
NM_002180.3(IGHMBP2):c.2438C>T (p.Ala813Val)
|
rs779854653
|
0.00001
|
NM_002180.3(IGHMBP2):c.2460_2474dup (p.Glu821_Pro825dup)
|
rs1267983821
|
0.00001
|
NM_002180.3(IGHMBP2):c.2542C>T (p.Pro848Ser)
|
rs1131691275
|
0.00001
|
NM_002180.3(IGHMBP2):c.2561A>G (p.Gln854Arg)
|
rs1300949116
|
0.00001
|
NM_002180.3(IGHMBP2):c.2649T>G (p.Phe883Leu)
|
rs772539742
|
0.00001
|
NM_002180.3(IGHMBP2):c.2677G>A (p.Ala893Thr)
|
rs149294713
|
0.00001
|
NM_002180.3(IGHMBP2):c.2707A>G (p.Thr903Ala)
|
rs766526224
|
0.00001
|
NM_002180.3(IGHMBP2):c.2716G>A (p.Val906Ile)
|
rs748491290
|
0.00001
|
NM_002180.3(IGHMBP2):c.2752C>T (p.Arg918Cys)
|
rs199962477
|
0.00001
|
NM_002180.3(IGHMBP2):c.2787C>G (p.Ile929Met)
|
rs761854167
|
0.00001
|
NM_002180.3(IGHMBP2):c.2812G>A (p.Ala938Thr)
|
rs763336691
|
0.00001
|
NM_002180.3(IGHMBP2):c.2821C>T (p.Arg941Trp)
|
rs557641477
|
0.00001
|
NM_002180.3(IGHMBP2):c.2822G>A (p.Arg941Gln)
|
rs373408947
|
0.00001
|
NM_002180.3(IGHMBP2):c.286A>G (p.Asn96Asp)
|
rs760004229
|
0.00001
|
NM_002180.3(IGHMBP2):c.2875G>A (p.Gly959Arg)
|
rs199574747
|
0.00001
|
NM_002180.3(IGHMBP2):c.2897G>A (p.Arg966Lys)
|
rs1361120114
|
0.00001
|
NM_002180.3(IGHMBP2):c.2912G>A (p.Arg971Lys)
|
rs1471799706
|
0.00001
|
NM_002180.3(IGHMBP2):c.2978C>T (p.Thr993Met)
|
rs777591006
|
0.00001
|
NM_002180.3(IGHMBP2):c.322C>T (p.Arg108Trp)
|
rs750026880
|
0.00001
|
NM_002180.3(IGHMBP2):c.350C>T (p.Ala117Val)
|
rs1034569953
|
0.00001
|
NM_002180.3(IGHMBP2):c.381C>G (p.Ser127Arg)
|
rs775782198
|
0.00001
|
NM_002180.3(IGHMBP2):c.393G>T (p.Glu131Asp)
|
rs761440964
|
0.00001
|
NM_002180.3(IGHMBP2):c.479C>A (p.Ser160Tyr)
|
rs767665196
|
0.00001
|
NM_002180.3(IGHMBP2):c.482G>T (p.Gly161Val)
|
rs750539690
|
0.00001
|
NM_002180.3(IGHMBP2):c.500T>C (p.Ile167Thr)
|
rs754051200
|
0.00001
|
NM_002180.3(IGHMBP2):c.531T>G (p.Ser177Arg)
|
rs779086573
|
0.00001
|
NM_002180.3(IGHMBP2):c.596C>T (p.Ala199Val)
|
rs780802298
|
0.00001
|
NM_002180.3(IGHMBP2):c.607G>A (p.Ala203Thr)
|
rs768493454
|
0.00001
|
NM_002180.3(IGHMBP2):c.739G>A (p.Ala247Thr)
|
rs774700020
|
0.00001
|
NM_002180.3(IGHMBP2):c.760C>T (p.Arg254Cys)
|
rs1033094612
|
0.00001
|
NM_002180.3(IGHMBP2):c.830A>G (p.Gln277Arg)
|
rs112495985
|
0.00001
|
NM_002180.3(IGHMBP2):c.83G>A (p.Arg28His)
|
rs892885630
|
0.00001
|
NM_002180.3(IGHMBP2):c.860G>A (p.Ser287Asn)
|
rs899517052
|
0.00001
|
NM_002180.3(IGHMBP2):c.862G>A (p.Asp288Asn)
|
rs768803582
|
0.00001
|
NM_002180.3(IGHMBP2):c.877G>A (p.Val293Ile)
|
rs761171176
|
0.00001
|
NM_002180.3(IGHMBP2):c.919A>C (p.Asn307His)
|
rs758520241
|
0.00001
|
NM_002180.3(IGHMBP2):c.925A>G (p.Lys309Glu)
|
rs200079527
|
0.00001
|
NM_002180.3(IGHMBP2):c.929C>G (p.Thr310Ser)
|
rs555235493
|
0.00001
|
NM_002180.3(IGHMBP2):c.947A>G (p.Lys316Arg)
|
rs1323805346
|
0.00001
|
NM_002180.3(IGHMBP2):c.986A>T (p.Glu329Val)
|
rs201726883
|
0.00001
|
NM_003680.4(YARS1):c.1012A>G (p.Ser338Gly)
|
rs763921769
|
0.00001
|
NM_003680.4(YARS1):c.1014C>G (p.Ser338Arg)
|
rs142035566
|
0.00001
|
NM_003680.4(YARS1):c.1049T>C (p.Met350Thr)
|
rs1490757097
|
0.00001
|
NM_003680.4(YARS1):c.1100G>A (p.Arg367Gln)
|
rs762473756
|
0.00001
|
NM_003680.4(YARS1):c.1140+6C>T
|
rs1653037113
|
0.00001
|
NM_003680.4(YARS1):c.1180G>A (p.Val394Met)
|
rs863224717
|
0.00001
|
NM_003680.4(YARS1):c.1199G>A (p.Arg400Gln)
|
rs746892773
|
0.00001
|
NM_003680.4(YARS1):c.1207G>A (p.Val403Met)
|
rs745651845
|
0.00001
|
NM_003680.4(YARS1):c.1373C>T (p.Pro458Leu)
|
rs762042274
|
0.00001
|
NM_003680.4(YARS1):c.1415A>G (p.Tyr472Cys)
|
rs1214337748
|
0.00001
|
NM_003680.4(YARS1):c.1531A>G (p.Met511Val)
|
rs1569696187
|
0.00001
|
NM_003680.4(YARS1):c.1543G>A (p.Gly515Ser)
|
rs879254282
|
0.00001
|
NM_003680.4(YARS1):c.1549A>G (p.Ile517Val)
|
rs371220818
|
0.00001
|
NM_003680.4(YARS1):c.1584C>G (p.Ser528Arg)
|
rs774884649
|
0.00001
|
NM_003680.4(YARS1):c.166A>G (p.Met56Val)
|
rs141115281
|
0.00001
|
NM_003680.4(YARS1):c.176T>C (p.Ile59Thr)
|
rs774466323
|
0.00001
|
NM_003680.4(YARS1):c.181G>A (p.Asp61Asn)
|
rs776582429
|
0.00001
|
NM_003680.4(YARS1):c.190A>C (p.Lys64Gln)
|
rs1322723317
|
0.00001
|
NM_003680.4(YARS1):c.277C>T (p.Arg93Ter)
|
rs781579762
|
0.00001
|
NM_003680.4(YARS1):c.322A>G (p.Ile108Val)
|
rs1467446637
|
0.00001
|
NM_003680.4(YARS1):c.502G>A (p.Gly168Arg)
|
rs1473184666
|
0.00001
|
NM_003680.4(YARS1):c.557T>C (p.Ile186Thr)
|
rs766166915
|
0.00001
|
NM_003680.4(YARS1):c.57+1G>A
|
rs1309507387
|
0.00001
|
NM_003680.4(YARS1):c.58-2A>G
|
rs371699331
|
0.00001
|
NM_003680.4(YARS1):c.602C>T (p.Ala201Val)
|
rs1380442148
|
0.00001
|
NM_003680.4(YARS1):c.642G>A (p.Met214Ile)
|
rs930469813
|
0.00001
|
NM_003680.4(YARS1):c.709C>T (p.Arg237Trp)
|
rs1385295171
|
0.00001
|
NM_003680.4(YARS1):c.746T>G (p.Phe249Cys)
|
rs1009349245
|
0.00001
|
NM_003680.4(YARS1):c.763G>A (p.Val255Met)
|
rs768654208
|
0.00001
|
NM_003680.4(YARS1):c.827T>A (p.Val276Glu)
|
rs1395864629
|
0.00001
|
NM_003680.4(YARS1):c.830T>G (p.Ile277Ser)
|
rs760914990
|
0.00001
|
NM_003680.4(YARS1):c.877G>A (p.Val293Met)
|
rs746614278
|
0.00001
|
NM_003680.4(YARS1):c.880G>A (p.Asp294Asn)
|
rs779432834
|
0.00001
|
NM_003680.4(YARS1):c.922G>T (p.Asp308Tyr)
|
rs1207371448
|
0.00001
|
NM_003680.4(YARS1):c.977A>G (p.Glu326Gly)
|
rs1433806469
|
0.00001
|
NM_004637.6(RAB7A):c.152T>C (p.Met51Thr)
|
rs769771992
|
0.00001
|
NM_004637.6(RAB7A):c.481A>G (p.Asn161Asp)
|
rs963894786
|
0.00001
|
NM_004637.6(RAB7A):c.482A>G (p.Asn161Ser)
|
rs121909080
|
0.00001
|
NM_004637.6(RAB7A):c.533C>T (p.Thr178Met)
|
rs142747565
|
0.00001
|
NM_004637.6(RAB7A):c.590G>A (p.Arg197Gln)
|
rs779472408
|
0.00001
|
NM_004990.4(MARS1):c.1073C>G (p.Thr358Ser)
|
rs746654999
|
0.00001
|
NM_004990.4(MARS1):c.1091+4A>G
|
rs987991720
|
0.00001
|
NM_004990.4(MARS1):c.1108T>C (p.Phe370Leu)
|
rs140467171
|
0.00001
|
NM_004990.4(MARS1):c.1162C>T (p.Arg388Ter)
|
rs754698410
|
0.00001
|
NM_004990.4(MARS1):c.1241G>A (p.Arg414Gln)
|
rs1280661109
|
0.00001
|
NM_004990.4(MARS1):c.1297C>T (p.Pro433Ser)
|
rs1450179852
|
0.00001
|
NM_004990.4(MARS1):c.1309G>A (p.Val437Ile)
|
rs1484877370
|
0.00001
|
NM_004990.4(MARS1):c.1318T>G (p.Ser440Ala)
|
rs1359914043
|
0.00001
|
NM_004990.4(MARS1):c.1366A>G (p.Lys456Glu)
|
rs1395622723
|
0.00001
|
NM_004990.4(MARS1):c.1379G>A (p.Arg460Gln)
|
rs750231101
|
0.00001
|
NM_004990.4(MARS1):c.1385A>G (p.Glu462Gly)
|
rs1408685568
|
0.00001
|
NM_004990.4(MARS1):c.1387G>T (p.Glu463Ter)
|
rs1313001176
|
0.00001
|
NM_004990.4(MARS1):c.1422G>C (p.Trp474Cys)
|
rs781462684
|
0.00001
|
NM_004990.4(MARS1):c.1430A>G (p.Asn477Ser)
|
rs778085997
|
0.00001
|
NM_004990.4(MARS1):c.1445C>T (p.Thr482Ile)
|
rs1173899198
|
0.00001
|
NM_004990.4(MARS1):c.1477C>T (p.Arg493Cys)
|
rs747598332
|
0.00001
|
NM_004990.4(MARS1):c.1594T>A (p.Tyr532Asn)
|
rs375218777
|
0.00001
|
NM_004990.4(MARS1):c.1772A>T (p.Asp591Val)
|
rs775880924
|
0.00001
|
NM_004990.4(MARS1):c.1792C>T (p.Arg598Cys)
|
rs764601965
|
0.00001
|
NM_004990.4(MARS1):c.1793G>A (p.Arg598His)
|
rs749954063
|
0.00001
|
NM_004990.4(MARS1):c.1795G>A (p.Gly599Ser)
|
rs765972233
|
0.00001
|
NM_004990.4(MARS1):c.1852C>T (p.Arg618Cys)
|
rs587777718
|
0.00001
|
NM_004990.4(MARS1):c.188G>A (p.Ser63Asn)
|
rs932854507
|
0.00001
|
NM_004990.4(MARS1):c.1931C>G (p.Ser644Cys)
|
rs1276192658
|
0.00001
|
NM_004990.4(MARS1):c.1968-8C>T
|
rs1209991469
|
0.00001
|
NM_004990.4(MARS1):c.1976T>C (p.Met659Thr)
|
rs1156891377
|
0.00001
|
NM_004990.4(MARS1):c.2086C>T (p.Leu696Phe)
|
rs1877703051
|
0.00001
|
NM_004990.4(MARS1):c.2098C>T (p.Arg700Trp)
|
rs771306648
|
0.00001
|
NM_004990.4(MARS1):c.2104C>T (p.Arg702Trp)
|
rs587777228
|
0.00001
|
NM_004990.4(MARS1):c.2132T>C (p.Ile711Thr)
|
rs1051420158
|
0.00001
|
NM_004990.4(MARS1):c.2146A>G (p.Asn716Asp)
|
rs1386767973
|
0.00001
|
NM_004990.4(MARS1):c.2153A>G (p.Tyr718Cys)
|
rs769280984
|
0.00001
|
NM_004990.4(MARS1):c.2157T>G (p.Ile719Met)
|
rs1877717622
|
0.00001
|
NM_004990.4(MARS1):c.2237T>G (p.Val746Gly)
|
rs758918563
|
0.00001
|
NM_004990.4(MARS1):c.2290A>G (p.Ser764Gly)
|
rs773571063
|
0.00001
|
NM_004990.4(MARS1):c.2318T>C (p.Leu773Pro)
|
rs755480968
|
0.00001
|
NM_004990.4(MARS1):c.2347A>G (p.Thr783Ala)
|
rs946923506
|
0.00001
|
NM_004990.4(MARS1):c.2381A>G (p.Gln794Arg)
|
rs1489534290
|
0.00001
|
NM_004990.4(MARS1):c.2391+3A>G
|
rs995030286
|
0.00001
|
NM_004990.4(MARS1):c.2470A>C (p.Thr824Pro)
|
rs200404964
|
0.00001
|
NM_004990.4(MARS1):c.2521C>G (p.Gln841Glu)
|
rs368995987
|
0.00001
|
NM_004990.4(MARS1):c.2612C>T (p.Ala871Val)
|
rs370631429
|
0.00001
|
NM_004990.4(MARS1):c.2631_2635dup (p.Leu879fs)
|
rs1172463219
|
0.00001
|
NM_004990.4(MARS1):c.2650G>A (p.Ala884Thr)
|
rs778165066
|
0.00001
|
NM_004990.4(MARS1):c.2666A>G (p.Lys889Arg)
|
rs779548081
|
0.00001
|
NM_004990.4(MARS1):c.2693A>C (p.Lys898Thr)
|
rs28382854
|
0.00001
|
NM_004990.4(MARS1):c.2T>A (p.Met1Lys)
|
rs760194380
|
0.00001
|
NM_004990.4(MARS1):c.303C>G (p.Tyr101Ter)
|
rs912847491
|
0.00001
|
NM_004990.4(MARS1):c.323A>G (p.Lys108Arg)
|
rs1037400402
|
0.00001
|
NM_004990.4(MARS1):c.328G>C (p.Gly110Arg)
|
rs774655266
|
0.00001
|
NM_004990.4(MARS1):c.550C>T (p.Arg184Ter)
|
rs753083306
|
0.00001
|
NM_004990.4(MARS1):c.595C>T (p.Arg199Trp)
|
rs776361792
|
0.00001
|
NM_004990.4(MARS1):c.631G>A (p.Ala211Thr)
|
rs147034935
|
0.00001
|
NM_004990.4(MARS1):c.643G>A (p.Ala215Thr)
|
rs187172640
|
0.00001
|
NM_004990.4(MARS1):c.653A>G (p.Asn218Ser)
|
rs1875839426
|
0.00001
|
NM_004990.4(MARS1):c.70G>A (p.Gly24Ser)
|
rs1227531274
|
0.00001
|
NM_004990.4(MARS1):c.749T>C (p.Leu250Pro)
|
rs139033078
|
0.00001
|
NM_004990.4(MARS1):c.770T>C (p.Val257Ala)
|
rs200308742
|
0.00001
|
NM_004990.4(MARS1):c.782C>T (p.Ala261Val)
|
rs769280509
|
0.00001
|
NM_004990.4(MARS1):c.853A>T (p.Ile285Phe)
|
rs776026574
|
0.00001
|
NM_004990.4(MARS1):c.97del (p.Thr32_Val33insTer)
|
rs773474721
|
0.00001
|
NM_005391.5(PDK3):c.1148C>T (p.Thr383Met)
|
rs1442646183
|
0.00001
|
NM_005391.5(PDK3):c.1205A>G (p.Tyr402Cys)
|
rs762702094
|
0.00001
|
NM_005391.5(PDK3):c.149G>A (p.Arg50Gln)
|
rs757407648
|
0.00001
|
NM_005391.5(PDK3):c.160C>T (p.Pro54Ser)
|
rs1569221445
|
0.00001
|
NM_005391.5(PDK3):c.203C>T (p.Pro68Leu)
|
rs373610926
|
0.00001
|
NM_005391.5(PDK3):c.320+6T>C
|
rs748960946
|
0.00001
|
NM_005391.5(PDK3):c.338T>C (p.Ile113Thr)
|
rs1569223291
|
0.00001
|
NM_005391.5(PDK3):c.427A>G (p.Ile143Val)
|
rs1057438680
|
0.00001
|
NM_005391.5(PDK3):c.474C>T (p.Arg158=)
|
rs756879455
|
0.00001
|
NM_005391.5(PDK3):c.577G>A (p.Val193Met)
|
rs764909872
|
0.00001
|
NM_005391.5(PDK3):c.595+3A>G
|
rs1227104182
|
0.00001
|
NM_005391.5(PDK3):c.692C>G (p.Pro231Arg)
|
rs1051776582
|
0.00001
|
NM_005391.5(PDK3):c.811A>G (p.Lys271Glu)
|
rs1569227273
|
0.00001
|
NM_005391.5(PDK3):c.883C>A (p.Arg295=)
|
rs868382375
|
0.00001
|
NM_006096.4(NDRG1):c.1022G>A (p.Arg341His)
|
rs1392179290
|
0.00001
|
NM_006096.4(NDRG1):c.1028G>A (p.Arg343His)
|
rs144714216
|
0.00001
|
NM_006096.4(NDRG1):c.1046G>A (p.Gly349Asp)
|
rs1209851405
|
0.00001
|
NM_006096.4(NDRG1):c.1052G>A (p.Arg351Gln)
|
rs1282857383
|
0.00001
|
NM_006096.4(NDRG1):c.106G>T (p.Asp36Tyr)
|
rs745832151
|
0.00001
|
NM_006096.4(NDRG1):c.1085G>A (p.Ser362Asn)
|
rs749124058
|
0.00001
|
NM_006096.4(NDRG1):c.1091C>T (p.Ser364Leu)
|
rs767058269
|
0.00001
|
NM_006096.4(NDRG1):c.112G>A (p.Glu38Lys)
|
rs1399039574
|
0.00001
|
NM_006096.4(NDRG1):c.1136G>A (p.Gly379Asp)
|
rs1417950013
|
0.00001
|
NM_006096.4(NDRG1):c.1153G>A (p.Ala385Thr)
|
rs1276408714
|
0.00001
|
NM_006096.4(NDRG1):c.140C>T (p.Thr47Met)
|
rs756570592
|
0.00001
|
NM_006096.4(NDRG1):c.166C>T (p.Arg56Trp)
|
rs769720211
|
0.00001
|
NM_006096.4(NDRG1):c.175A>C (p.Ile59Leu)
|
rs1404219858
|
0.00001
|
NM_006096.4(NDRG1):c.196G>A (p.Gly66Ser)
|
rs780329667
|
0.00001
|
NM_006096.4(NDRG1):c.201G>A (p.Met67Ile)
|
rs1240902905
|
0.00001
|
NM_006096.4(NDRG1):c.217T>C (p.Tyr73His)
|
rs368584363
|
0.00001
|
NM_006096.4(NDRG1):c.311C>A (p.Ala104Asp)
|
rs1346600957
|
0.00001
|
NM_006096.4(NDRG1):c.322G>A (p.Ala108Thr)
|
rs144310406
|
0.00001
|
NM_006096.4(NDRG1):c.337C>T (p.Pro113Ser)
|
rs750194735
|
0.00001
|
NM_006096.4(NDRG1):c.38T>C (p.Val13Ala)
|
rs551852206
|
0.00001
|
NM_006096.4(NDRG1):c.400A>G (p.Ile134Val)
|
rs762263620
|
0.00001
|
NM_006096.4(NDRG1):c.488T>C (p.Ile163Thr)
|
rs748782766
|
0.00001
|
NM_006096.4(NDRG1):c.537+6G>A
|
rs556570301
|
0.00001
|
NM_006096.4(NDRG1):c.559C>G (p.Leu187Val)
|
rs746650111
|
0.00001
|
NM_006096.4(NDRG1):c.563C>T (p.Pro188Leu)
|
rs779194865
|
0.00001
|
NM_006096.4(NDRG1):c.571G>A (p.Val191Met)
|
rs749716207
|
0.00001
|
NM_006096.4(NDRG1):c.574G>A (p.Val192Met)
|
rs1256911364
|
0.00001
|
NM_006096.4(NDRG1):c.582C>G (p.His194Gln)
|
rs1305919985
|
0.00001
|
NM_006096.4(NDRG1):c.583C>T (p.Leu195Phe)
|
rs1295024326
|
0.00001
|
NM_006096.4(NDRG1):c.637C>A (p.Gln213Lys)
|
rs1213776109
|
0.00001
|
NM_006096.4(NDRG1):c.640C>T (p.His214Tyr)
|
rs1855954315
|
0.00001
|
NM_006096.4(NDRG1):c.643A>G (p.Ile215Val)
|
rs1390282778
|
0.00001
|
NM_006096.4(NDRG1):c.64A>G (p.Thr22Ala)
|
rs755696955
|
0.00001
|
NM_006096.4(NDRG1):c.656T>A (p.Met219Lys)
|
rs147184316
|
0.00001
|
NM_006096.4(NDRG1):c.699-3C>T
|
rs931942837
|
0.00001
|
NM_006096.4(NDRG1):c.701G>A (p.Arg234Gln)
|
rs755968590
|
0.00001
|
NM_006096.4(NDRG1):c.706G>A (p.Asp236Asn)
|
rs1337832950
|
0.00001
|
NM_006096.4(NDRG1):c.722G>A (p.Arg241Gln)
|
rs1463129303
|
0.00001
|
NM_006096.4(NDRG1):c.727A>G (p.Met243Val)
|
rs767505621
|
0.00001
|
NM_006096.4(NDRG1):c.73G>C (p.Gly25Arg)
|
rs377527660
|
0.00001
|
NM_006096.4(NDRG1):c.788C>T (p.Ser263Leu)
|
rs770044182
|
0.00001
|
NM_006096.4(NDRG1):c.7C>T (p.Arg3Trp)
|
rs537161398
|
0.00001
|
NM_006096.4(NDRG1):c.805G>A (p.Val269Met)
|
rs750779893
|
0.00001
|
NM_006096.4(NDRG1):c.860C>T (p.Ala287Val)
|
rs761760894
|
0.00001
|
NM_006096.4(NDRG1):c.893C>T (p.Pro298Leu)
|
rs753836263
|
0.00001
|
NM_006096.4(NDRG1):c.899A>G (p.Lys300Arg)
|
rs1337997229
|
0.00001
|
NM_006096.4(NDRG1):c.925G>A (p.Val309Met)
|
rs1855413937
|
0.00001
|
NM_006096.4(NDRG1):c.947C>G (p.Pro316Arg)
|
rs1033985666
|
0.00001
|
NM_006096.4(NDRG1):c.950C>T (p.Ser317Leu)
|
rs904186690
|
0.00001
|
NM_006158.5(NEFL):c.1029C>G (p.Asp343Glu)
|
rs781084022
|
0.00001
|
NM_006158.5(NEFL):c.1037C>A (p.Ala346Asp)
|
rs368370291
|
0.00001
|
NM_006158.5(NEFL):c.1044+5G>C
|
rs779620367
|
0.00001
|
NM_006158.5(NEFL):c.1049C>T (p.Thr350Met)
|
rs745370680
|
0.00001
|
NM_006158.5(NEFL):c.1160C>A (p.Ala387Glu)
|
rs767498943
|
0.00001
|
NM_006158.5(NEFL):c.1196G>A (p.Arg399Gln)
|
rs372997416
|
0.00001
|
NM_006158.5(NEFL):c.1213G>A (p.Val405Met)
|
rs558941336
|
0.00001
|
NM_006158.5(NEFL):c.1273G>A (p.Gly425Ser)
|
rs756314395
|
0.00001
|
NM_006158.5(NEFL):c.1302G>A (p.Met434Ile)
|
rs922905627
|
0.00001
|
NM_006158.5(NEFL):c.1309C>T (p.Arg437Cys)
|
rs1231546543
|
0.00001
|
NM_006158.5(NEFL):c.1351C>G (p.Gln451Glu)
|
rs773307364
|
0.00001
|
NM_006158.5(NEFL):c.1357G>A (p.Glu453Lys)
|
rs1249514180
|
0.00001
|
NM_006158.5(NEFL):c.1429G>A (p.Glu477Lys)
|
rs749163947
|
0.00001
|
NM_006158.5(NEFL):c.1462G>A (p.Glu488Lys)
|
rs773570365
|
0.00001
|
NM_006158.5(NEFL):c.1492G>A (p.Ala498Thr)
|
rs151208148
|
0.00001
|
NM_006158.5(NEFL):c.1505C>T (p.Ser502Phe)
|
rs1054913532
|
0.00001
|
NM_006158.5(NEFL):c.1529A>G (p.Glu510Gly)
|
rs777727985
|
0.00001
|
NM_006158.5(NEFL):c.1532G>A (p.Gly511Glu)
|
rs377758736
|
0.00001
|
NM_006158.5(NEFL):c.1588G>T (p.Val530Phe)
|
rs749130357
|
0.00001
|
NM_006158.5(NEFL):c.1595G>A (p.Gly532Asp)
|
rs769793484
|
0.00001
|
NM_006158.5(NEFL):c.1612G>A (p.Ala538Thr)
|
rs779888473
|
0.00001
|
NM_006158.5(NEFL):c.216C>A (p.Asp72Glu)
|
rs1411798677
|
0.00001
|
NM_006158.5(NEFL):c.217C>G (p.Leu73Val)
|
rs755889503
|
0.00001
|
NM_006158.5(NEFL):c.235A>G (p.Ile79Val)
|
rs765260132
|
0.00001
|
NM_006158.5(NEFL):c.270G>C (p.Glu90Asp)
|
rs767370918
|
0.00001
|
NM_006158.5(NEFL):c.418G>A (p.Glu140Lys)
|
rs121913663
|
0.00001
|
NM_006158.5(NEFL):c.487G>A (p.Glu163Lys)
|
rs876661155
|
0.00001
|
NM_006158.5(NEFL):c.490C>G (p.Arg164Gly)
|
rs752771636
|
0.00001
|
NM_006158.5(NEFL):c.530G>T (p.Arg177Leu)
|
rs1450236716
|
0.00001
|
NM_006158.5(NEFL):c.637A>G (p.Ile213Val)
|
rs538481538
|
0.00001
|
NM_006158.5(NEFL):c.648G>C (p.Leu216Phe)
|
rs35575466
|
0.00001
|
NM_006158.5(NEFL):c.690G>C (p.Glu230Asp)
|
rs750224223
|
0.00001
|
NM_006158.5(NEFL):c.721G>A (p.Ala241Thr)
|
rs1415523458
|
0.00001
|
NM_006158.5(NEFL):c.808G>T (p.Ala270Ser)
|
rs749160052
|
0.00001
|
NM_006158.5(NEFL):c.856G>T (p.Val286Leu)
|
rs902640009
|
0.00001
|
NM_006158.5(NEFL):c.874G>T (p.Ala292Ser)
|
rs761264386
|
0.00001
|
NM_014365.3(HSPB8):c.10G>A (p.Gly4Ser)
|
rs762887808
|
0.00001
|
NM_014365.3(HSPB8):c.116C>T (p.Pro39Leu)
|
rs771827550
|
0.00001
|
NM_014365.3(HSPB8):c.140C>G (p.Ser47Cys)
|
rs1183371665
|
0.00001
|
NM_014365.3(HSPB8):c.17T>C (p.Met6Thr)
|
rs530083542
|
0.00001
|
NM_014365.3(HSPB8):c.200G>T (p.Gly67Val)
|
rs771852827
|
0.00001
|
NM_014365.3(HSPB8):c.208C>T (p.Pro70Ser)
|
rs924785682
|
0.00001
|
NM_014365.3(HSPB8):c.211C>T (p.Arg71Trp)
|
rs977617023
|
0.00001
|
NM_014365.3(HSPB8):c.212G>A (p.Arg71Gln)
|
rs1312255584
|
0.00001
|
NM_014365.3(HSPB8):c.250G>A (p.Glu84Lys)
|
rs757293016
|
0.00001
|
NM_014365.3(HSPB8):c.280G>A (p.Glu94Lys)
|
rs769296712
|
0.00001
|
NM_014365.3(HSPB8):c.397G>A (p.Gly133Ser)
|
rs1179250162
|
0.00001
|
NM_014365.3(HSPB8):c.44G>A (p.Arg15His)
|
rs752348447
|
0.00001
|
NM_014365.3(HSPB8):c.479C>T (p.Pro160Leu)
|
rs1403551142
|
0.00001
|
NM_014365.3(HSPB8):c.47T>G (p.Leu16Arg)
|
rs1256697965
|
0.00001
|
NM_014365.3(HSPB8):c.49C>T (p.Arg17Cys)
|
rs200120006
|
0.00001
|
NM_014365.3(HSPB8):c.52C>T (p.Arg18Ter)
|
rs759005659
|
0.00001
|
NM_014365.3(HSPB8):c.536A>G (p.Glu179Gly)
|
rs863224767
|
0.00001
|
NM_014365.3(HSPB8):c.584G>A (p.Cys195Tyr)
|
rs778223243
|
0.00001
|
NM_014845.6(FIG4):c.1039+3G>A
|
rs760007124
|
0.00001
|
NM_014845.6(FIG4):c.1051G>C (p.Asp351His)
|
rs879253941
|
0.00001
|
NM_014845.6(FIG4):c.1064A>G (p.His355Arg)
|
rs772356514
|
0.00001
|
NM_014845.6(FIG4):c.110G>A (p.Arg37His)
|
rs192324110
|
0.00001
|
NM_014845.6(FIG4):c.1137+5G>T
|
rs746766125
|
0.00001
|
NM_014845.6(FIG4):c.1165A>G (p.Ile389Val)
|
rs765216035
|
0.00001
|
NM_014845.6(FIG4):c.116T>C (p.Leu39Ser)
|
rs373630745
|
0.00001
|
NM_014845.6(FIG4):c.121A>G (p.Ile41Val)
|
rs1775389277
|
0.00001
|
NM_014845.6(FIG4):c.1228A>G (p.Thr410Ala)
|
rs142463699
|
0.00001
|
NM_014845.6(FIG4):c.125A>G (p.Asp42Gly)
|
rs780739049
|
0.00001
|
NM_014845.6(FIG4):c.1334G>A (p.Gly445Asp)
|
rs1255518113
|
0.00001
|
NM_014845.6(FIG4):c.1338C>G (p.Phe446Leu)
|
rs1353768172
|
0.00001
|
NM_014845.6(FIG4):c.1375C>T (p.Arg459Trp)
|
rs1220742669
|
0.00001
|
NM_014845.6(FIG4):c.1432C>G (p.Gln478Glu)
|
rs1331703765
|
0.00001
|
NM_014845.6(FIG4):c.1434G>A (p.Gln478=)
|
rs1430381590
|
0.00001
|
NM_014845.6(FIG4):c.1490A>T (p.Gln497Leu)
|
rs748473120
|
0.00001
|
NM_014845.6(FIG4):c.1555A>G (p.Asn519Asp)
|
rs374129146
|
0.00001
|
NM_014845.6(FIG4):c.155T>C (p.Ile52Thr)
|
rs754533235
|
0.00001
|
NM_014845.6(FIG4):c.1750+3A>G
|
rs758390500
|
0.00001
|
NM_014845.6(FIG4):c.1793T>A (p.Phe598Tyr)
|
rs751399063
|
0.00001
|
NM_014845.6(FIG4):c.180A>G (p.Gln60=)
|
rs376730932
|
0.00001
|
NM_014845.6(FIG4):c.1834A>G (p.Thr612Ala)
|
rs758695444
|
0.00001
|
NM_014845.6(FIG4):c.1838A>G (p.Asp613Gly)
|
rs1243225247
|
0.00001
|
NM_014845.6(FIG4):c.2018T>A (p.Ile673Asn)
|
rs774499394
|
0.00001
|
NM_014845.6(FIG4):c.202G>A (p.Gly68Ser)
|
rs745860370
|
0.00001
|
NM_014845.6(FIG4):c.2036G>A (p.Arg679Gln)
|
rs192447225
|
0.00001
|
NM_014845.6(FIG4):c.2042A>G (p.Tyr681Cys)
|
rs554382573
|
0.00001
|
NM_014845.6(FIG4):c.2069T>C (p.Phe690Ser)
|
rs1237449502
|
0.00001
|
NM_014845.6(FIG4):c.2116G>A (p.Val706Ile)
|
rs754830354
|
0.00001
|
NM_014845.6(FIG4):c.2222C>T (p.Thr741Met)
|
rs1274229885
|
0.00001
|
NM_014845.6(FIG4):c.2240C>T (p.Pro747Leu)
|
rs1266127215
|
0.00001
|
NM_014845.6(FIG4):c.2256G>C (p.Glu752Asp)
|
rs375960403
|
0.00001
|
NM_014845.6(FIG4):c.2296C>T (p.Arg766Trp)
|
rs552937585
|
0.00001
|
NM_014845.6(FIG4):c.2308G>A (p.Gly770Ser)
|
rs779329699
|
0.00001
|
NM_014845.6(FIG4):c.2339A>G (p.Lys780Arg)
|
rs373590484
|
0.00001
|
NM_014845.6(FIG4):c.2444T>C (p.Phe815Ser)
|
rs375414729
|
0.00001
|
NM_014845.6(FIG4):c.244G>A (p.Gly82Arg)
|
rs774546266
|
0.00001
|
NM_014845.6(FIG4):c.2464G>C (p.Val822Leu)
|
rs1208125100
|
0.00001
|
NM_014845.6(FIG4):c.2469G>T (p.Gln823His)
|
rs768773104
|
0.00001
|
NM_014845.6(FIG4):c.251C>T (p.Ser84Leu)
|
rs768384237
|
0.00001
|
NM_014845.6(FIG4):c.2547-1G>A
|
rs769858739
|
0.00001
|
NM_014845.6(FIG4):c.2558C>T (p.Ser853Leu)
|
rs774805375
|
0.00001
|
NM_014845.6(FIG4):c.2617A>C (p.Thr873Pro)
|
rs199765196
|
0.00001
|
NM_014845.6(FIG4):c.2654G>T (p.Gly885Val)
|
rs550030053
|
0.00001
|
NM_014845.6(FIG4):c.2660T>C (p.Met887Thr)
|
rs780643086
|
0.00001
|
NM_014845.6(FIG4):c.2687C>G (p.Ser896Cys)
|
rs776236607
|
0.00001
|
NM_014845.6(FIG4):c.2695C>T (p.Arg899Ter)
|
rs750069994
|
0.00001
|
NM_014845.6(FIG4):c.2713C>T (p.Arg905Cys)
|
rs754970037
|
0.00001
|
NM_014845.6(FIG4):c.353A>G (p.Asp118Gly)
|
rs771093157
|
0.00001
|
NM_014845.6(FIG4):c.374A>G (p.Tyr125Cys)
|
rs145466148
|
0.00001
|
NM_014845.6(FIG4):c.396G>A (p.Met132Ile)
|
rs1775847696
|
0.00001
|
NM_014845.6(FIG4):c.521C>T (p.Ser174Leu)
|
rs775391378
|
0.00001
|
NM_014845.6(FIG4):c.52T>C (p.Tyr18His)
|
rs1774396046
|
0.00001
|
NM_014845.6(FIG4):c.548G>A (p.Arg183Gln)
|
rs781588508
|
0.00001
|
NM_014845.6(FIG4):c.559G>A (p.Glu187Lys)
|
rs370115339
|
0.00001
|
NM_014845.6(FIG4):c.589C>T (p.Arg197Cys)
|
rs770528195
|
0.00001
|
NM_014845.6(FIG4):c.641G>A (p.Gly214Glu)
|
rs1776128339
|
0.00001
|
NM_014845.6(FIG4):c.685G>A (p.Val229Ile)
|
rs779593250
|
0.00001
|
NM_014845.6(FIG4):c.764G>A (p.Cys255Tyr)
|
rs1776227536
|
0.00001
|
NM_014845.6(FIG4):c.776A>C (p.Lys259Thr)
|
rs1045259801
|
0.00001
|
NM_014845.6(FIG4):c.788A>G (p.Tyr263Cys)
|
rs370148297
|
0.00001
|
NM_014845.6(FIG4):c.80T>C (p.Val27Ala)
|
rs769687105
|
0.00001
|
NM_014845.6(FIG4):c.827C>T (p.Ser276Phe)
|
rs1311885951
|
0.00001
|
NM_014874.4(MFN2):c.1064A>G (p.Lys355Arg)
|
rs143747551
|
0.00001
|
NM_014874.4(MFN2):c.1118G>A (p.Arg373Gln)
|
rs142042485
|
0.00001
|
NM_014874.4(MFN2):c.1162G>A (p.Val388Ile)
|
rs924011766
|
0.00001
|
NM_014874.4(MFN2):c.1189C>T (p.Arg397Trp)
|
rs758948968
|
0.00001
|
NM_014874.4(MFN2):c.1190G>A (p.Arg397Gln)
|
rs778219078
|
0.00001
|
NM_014874.4(MFN2):c.1202T>G (p.Leu401Arg)
|
rs1161492440
|
0.00001
|
NM_014874.4(MFN2):c.1208T>G (p.Phe403Cys)
|
rs769905428
|
0.00001
|
NM_014874.4(MFN2):c.1253G>A (p.Arg418Gln)
|
rs766998571
|
0.00001
|
NM_014874.4(MFN2):c.1267A>G (p.Thr423Ala)
|
rs765921889
|
0.00001
|
NM_014874.4(MFN2):c.1292C>T (p.Ser431Leu)
|
rs764374251
|
0.00001
|
NM_014874.4(MFN2):c.1304C>G (p.Ala435Gly)
|
rs1030984908
|
0.00001
|
NM_014874.4(MFN2):c.1318C>T (p.Arg440Cys)
|
rs756110507
|
0.00001
|
NM_014874.4(MFN2):c.1367C>T (p.Pro456Leu)
|
rs78658090
|
0.00001
|
NM_014874.4(MFN2):c.1424G>A (p.Gly475Asp)
|
rs774967287
|
0.00001
|
NM_014874.4(MFN2):c.1432A>G (p.Met478Val)
|
rs953946892
|
0.00001
|
NM_014874.4(MFN2):c.1441C>T (p.Arg481Cys)
|
rs762264240
|
0.00001
|
NM_014874.4(MFN2):c.1442G>A (p.Arg481His)
|
rs767718891
|
0.00001
|
NM_014874.4(MFN2):c.1453G>A (p.Ala485Thr)
|
rs1320374657
|
0.00001
|
NM_014874.4(MFN2):c.1537A>G (p.Ile513Val)
|
rs755657087
|
0.00001
|
NM_014874.4(MFN2):c.1556G>A (p.Arg519His)
|
rs373809750
|
0.00001
|
NM_014874.4(MFN2):c.1564T>C (p.Phe522Leu)
|
rs747397065
|
0.00001
|
NM_014874.4(MFN2):c.163A>T (p.Thr55Ser)
|
rs776423551
|
0.00001
|
NM_014874.4(MFN2):c.1675C>T (p.Pro559Ser)
|
rs1369308807
|
0.00001
|
NM_014874.4(MFN2):c.1679A>G (p.Lys560Arg)
|
rs754458177
|
0.00001
|
NM_014874.4(MFN2):c.1687C>T (p.Arg563Cys)
|
rs747733583
|
0.00001
|
NM_014874.4(MFN2):c.1688G>A (p.Arg563His)
|
rs771845093
|
0.00001
|
NM_014874.4(MFN2):c.1691G>A (p.Arg564Gln)
|
rs746213217
|
0.00001
|
NM_014874.4(MFN2):c.1701G>A (p.Met567Ile)
|
rs776026191
|
0.00001
|
NM_014874.4(MFN2):c.1724G>A (p.Arg575His)
|
rs564375950
|
0.00001
|
NM_014874.4(MFN2):c.1729A>G (p.Ile577Val)
|
rs749606728
|
0.00001
|
NM_014874.4(MFN2):c.1750C>A (p.Pro584Thr)
|
rs773308500
|
0.00001
|
NM_014874.4(MFN2):c.175G>T (p.Asp59Tyr)
|
rs1311434220
|
0.00001
|
NM_014874.4(MFN2):c.1778C>T (p.Ser593Leu)
|
rs759372833
|
0.00001
|
NM_014874.4(MFN2):c.1822G>A (p.Ala608Thr)
|
rs1639431440
|
0.00001
|
NM_014874.4(MFN2):c.1858G>A (p.Val620Ile)
|
rs200936779
|
0.00001
|
NM_014874.4(MFN2):c.1909T>A (p.Ser637Thr)
|
rs763185826
|
0.00001
|
NM_014874.4(MFN2):c.190G>A (p.Ala64Thr)
|
rs922058129
|
0.00001
|
NM_014874.4(MFN2):c.1922A>G (p.Tyr641Cys)
|
rs866276988
|
0.00001
|
NM_014874.4(MFN2):c.1946G>A (p.Arg649His)
|
rs763492075
|
0.00001
|
NM_014874.4(MFN2):c.1951A>G (p.Thr651Ala)
|
rs772756022
|
0.00001
|
NM_014874.4(MFN2):c.1978G>A (p.Ala660Thr)
|
rs762292163
|
0.00001
|
NM_014874.4(MFN2):c.1979C>A (p.Ala660Asp)
|
rs377090439
|
0.00001
|
NM_014874.4(MFN2):c.1981T>C (p.Phe661Leu)
|
rs1204925465
|
0.00001
|
NM_014874.4(MFN2):c.1995T>G (p.Phe665Leu)
|
rs755219120
|
0.00001
|
NM_014874.4(MFN2):c.2020C>A (p.Gln674Lys)
|
rs770361817
|
0.00001
|
NM_014874.4(MFN2):c.2021A>C (p.Gln674Pro)
|
rs1410698026
|
0.00001
|
NM_014874.4(MFN2):c.2048A>G (p.Asn683Ser)
|
rs762213417
|
0.00001
|
NM_014874.4(MFN2):c.2060A>G (p.Gln687Arg)
|
rs879253910
|
0.00001
|
NM_014874.4(MFN2):c.2147C>T (p.Ala716Val)
|
rs771589792
|
0.00001
|
NM_014874.4(MFN2):c.2158A>G (p.Lys720Glu)
|
rs1450205264
|
0.00001
|
NM_014874.4(MFN2):c.2162T>C (p.Ile721Thr)
|
rs150946795
|
0.00001
|
NM_014874.4(MFN2):c.2185A>G (p.Ser729Gly)
|
rs1274191966
|
0.00001
|
NM_014874.4(MFN2):c.2258dup (p.Gln754fs)
|
rs773371488
|
0.00001
|
NM_014874.4(MFN2):c.227T>G (p.Leu76Arg)
|
rs28940293
|
0.00001
|
NM_014874.4(MFN2):c.232G>A (p.Val78Ile)
|
rs764695837
|
0.00001
|
NM_014874.4(MFN2):c.236A>G (p.Lys79Arg)
|
rs1262941514
|
0.00001
|
NM_014874.4(MFN2):c.31A>G (p.Ile11Val)
|
rs763735861
|
0.00001
|
NM_014874.4(MFN2):c.32T>C (p.Ile11Thr)
|
rs777625403
|
0.00001
|
NM_014874.4(MFN2):c.404G>A (p.Arg135Gln)
|
rs1443036026
|
0.00001
|
NM_014874.4(MFN2):c.415A>G (p.Thr139Ala)
|
rs1349977366
|
0.00001
|
NM_014874.4(MFN2):c.46A>C (p.Lys16Gln)
|
rs748233037
|
0.00001
|
NM_014874.4(MFN2):c.541G>A (p.Val181Met)
|
rs863224064
|
0.00001
|
NM_014874.4(MFN2):c.608T>C (p.Ile203Thr)
|
rs200715905
|
0.00001
|
NM_014874.4(MFN2):c.725A>G (p.His242Arg)
|
rs863224065
|
0.00001
|
NM_014874.4(MFN2):c.739C>T (p.Arg247Cys)
|
rs369948853
|
0.00001
|
NM_014874.4(MFN2):c.816+4C>T
|
rs374018931
|
0.00001
|
NM_014874.4(MFN2):c.899G>A (p.Arg300His)
|
rs1226075443
|
0.00001
|
NM_014874.4(MFN2):c.932A>G (p.Asn311Ser)
|
rs748838916
|
0.00001
|
NM_014874.4(MFN2):c.946A>G (p.Lys316Glu)
|
rs1424551887
|
0.00001
|
NM_014874.4(MFN2):c.977C>T (p.Ala326Val)
|
rs778350613
|
0.00001
|
NM_014874.4(MFN2):c.982G>A (p.Ala328Thr)
|
rs771900151
|
0.00001
|
NM_015271.5(TRIM2):c.1028G>C (p.Gly343Ala)
|
rs1488492161
|
0.00001
|
NM_015271.5(TRIM2):c.1043C>G (p.Thr348Ser)
|
rs752113810
|
0.00001
|
NM_015271.5(TRIM2):c.1073C>T (p.Thr358Met)
|
rs756377335
|
0.00001
|
NM_015271.5(TRIM2):c.1093A>C (p.Thr365Pro)
|
rs1231802080
|
0.00001
|
NM_015271.5(TRIM2):c.1113G>A (p.Met371Ile)
|
rs761644850
|
0.00001
|
NM_015271.5(TRIM2):c.1166A>G (p.Asn389Ser)
|
rs1393756687
|
0.00001
|
NM_015271.5(TRIM2):c.1180G>A (p.Ala394Thr)
|
rs745973166
|
0.00001
|
NM_015271.5(TRIM2):c.119T>C (p.Val40Ala)
|
rs773535787
|
0.00001
|
NM_015271.5(TRIM2):c.1348C>T (p.Arg450Ter)
|
rs374278756
|
0.00001
|
NM_015271.5(TRIM2):c.1391G>A (p.Arg464His)
|
rs1235210272
|
0.00001
|
NM_015271.5(TRIM2):c.1411G>A (p.Gly471Ser)
|
rs147042335
|
0.00001
|
NM_015271.5(TRIM2):c.1451T>A (p.Met484Lys)
|
rs1470965446
|
0.00001
|
NM_015271.5(TRIM2):c.1609G>A (p.Val537Met)
|
rs1324448372
|
0.00001
|
NM_015271.5(TRIM2):c.1615A>T (p.Ile539Leu)
|
rs113767540
|
0.00001
|
NM_015271.5(TRIM2):c.1625A>G (p.Asn542Ser)
|
rs374300347
|
0.00001
|
NM_015271.5(TRIM2):c.1646G>A (p.Arg549His)
|
rs1579646798
|
0.00001
|
NM_015271.5(TRIM2):c.1656A>G (p.Ile552Met)
|
rs767256297
|
0.00001
|
NM_015271.5(TRIM2):c.166C>T (p.Arg56Trp)
|
rs980047319
|
0.00001
|
NM_015271.5(TRIM2):c.1670C>T (p.Pro557Leu)
|
rs778099061
|
0.00001
|
NM_015271.5(TRIM2):c.1673G>A (p.Gly558Glu)
|
rs1305793582
|
0.00001
|
NM_015271.5(TRIM2):c.1831G>A (p.Asp611Asn)
|
rs371608836
|
0.00001
|
NM_015271.5(TRIM2):c.1835G>A (p.Arg612His)
|
rs114415780
|
0.00001
|
NM_015271.5(TRIM2):c.1875C>T (p.Cys625=)
|
rs372665843
|
0.00001
|
NM_015271.5(TRIM2):c.1910C>T (p.Thr637Ile)
|
rs1769292601
|
0.00001
|
NM_015271.5(TRIM2):c.2023-10T>C
|
rs1310667550
|
0.00001
|
NM_015271.5(TRIM2):c.367A>T (p.Ser123Cys)
|
rs778183525
|
0.00001
|
NM_015271.5(TRIM2):c.506C>T (p.Thr169Met)
|
rs762398531
|
0.00001
|
NM_015271.5(TRIM2):c.541C>T (p.Leu181Phe)
|
rs754986666
|
0.00001
|
NM_015271.5(TRIM2):c.568G>A (p.Ala190Thr)
|
rs1316458872
|
0.00001
|
NM_015271.5(TRIM2):c.583C>A (p.Gln195Lys)
|
rs745623327
|
0.00001
|
NM_015271.5(TRIM2):c.605+6G>A
|
rs776278913
|
0.00001
|
NM_015271.5(TRIM2):c.648C>G (p.Ile216Met)
|
rs1352327505
|
0.00001
|
NM_015271.5(TRIM2):c.659T>C (p.Leu220Ser)
|
rs759938444
|
0.00001
|
NM_015271.5(TRIM2):c.677G>A (p.Ser226Asn)
|
rs143032564
|
0.00001
|
NM_015271.5(TRIM2):c.786A>C (p.Lys262Asn)
|
rs746187978
|
0.00001
|
NM_015271.5(TRIM2):c.878C>T (p.Thr293Met)
|
rs767633857
|
0.00001
|
NM_015271.5(TRIM2):c.916G>C (p.Glu306Gln)
|
rs750001904
|
0.00001
|
NM_015271.5(TRIM2):c.928G>A (p.Glu310Lys)
|
rs1214293124
|
0.00001
|
NM_015271.5(TRIM2):c.959C>T (p.Pro320Leu)
|
rs1279083060
|
0.00001
|
NM_016156.6(MTMR2):c.1091G>A (p.Arg364Gln)
|
rs768976966
|
0.00001
|
NM_016156.6(MTMR2):c.1096C>G (p.Leu366Val)
|
rs925169921
|
0.00001
|
NM_016156.6(MTMR2):c.1121T>C (p.Ile374Thr)
|
rs114883605
|
0.00001
|
NM_016156.6(MTMR2):c.1312T>C (p.Tyr438His)
|
rs1360581554
|
0.00001
|
NM_016156.6(MTMR2):c.1319G>A (p.Arg440Gln)
|
rs1383802560
|
0.00001
|
NM_016156.6(MTMR2):c.1328G>A (p.Arg443Gln)
|
rs1590978311
|
0.00001
|
NM_016156.6(MTMR2):c.146C>G (p.Ser49Cys)
|
rs1170327910
|
0.00001
|
NM_016156.6(MTMR2):c.1489G>A (p.Ala497Thr)
|
rs752626893
|
0.00001
|
NM_016156.6(MTMR2):c.1511T>C (p.Phe504Ser)
|
rs1221811087
|
0.00001
|
NM_016156.6(MTMR2):c.1594-9T>G
|
rs774704606
|
0.00001
|
NM_016156.6(MTMR2):c.1630A>G (p.Ile544Val)
|
rs781368440
|
0.00001
|
NM_016156.6(MTMR2):c.1661C>T (p.Pro554Leu)
|
rs750110066
|
0.00001
|
NM_016156.6(MTMR2):c.1770G>A (p.Gln590=)
|
rs778532655
|
0.00001
|
NM_016156.6(MTMR2):c.1900C>T (p.Gln634Ter)
|
rs923973985
|
0.00001
|
NM_016156.6(MTMR2):c.1910C>T (p.Thr637Ile)
|
rs1555056657
|
0.00001
|
NM_016156.6(MTMR2):c.197A>G (p.Glu66Gly)
|
rs756405288
|
0.00001
|
NM_016156.6(MTMR2):c.248A>C (p.Asn83Thr)
|
rs757664332
|
0.00001
|
NM_016156.6(MTMR2):c.269A>T (p.Asp90Val)
|
rs147341114
|
0.00001
|
NM_016156.6(MTMR2):c.301G>A (p.Val101Ile)
|
rs1340382592
|
0.00001
|
NM_016156.6(MTMR2):c.309A>T (p.Gly103=)
|
rs114274243
|
0.00001
|
NM_016156.6(MTMR2):c.327T>G (p.Asn109Lys)
|
rs1322357085
|
0.00001
|
NM_016156.6(MTMR2):c.34T>A (p.Ser12Thr)
|
rs1867035083
|
0.00001
|
NM_016156.6(MTMR2):c.357+4A>C
|
rs863224750
|
0.00001
|
NM_016156.6(MTMR2):c.458C>G (p.Thr153Ser)
|
rs1864437012
|
0.00001
|
NM_016156.6(MTMR2):c.460G>A (p.Val154Met)
|
rs1464362553
|
0.00001
|
NM_016156.6(MTMR2):c.479A>C (p.Asn160Thr)
|
rs1286568485
|
0.00001
|
NM_016156.6(MTMR2):c.494A>C (p.His165Pro)
|
rs1360315392
|
0.00001
|
NM_016156.6(MTMR2):c.52C>T (p.Arg18Trp)
|
rs1177699275
|
0.00001
|
NM_016156.6(MTMR2):c.572C>T (p.Pro191Leu)
|
rs1258314907
|
0.00001
|
NM_016156.6(MTMR2):c.626A>G (p.Tyr209Cys)
|
rs967619161
|
0.00001
|
NM_016156.6(MTMR2):c.77C>T (p.Ser26Phe)
|
rs1295900396
|
0.00001
|
NM_016156.6(MTMR2):c.791G>A (p.Arg264Lys)
|
rs1590984978
|
0.00001
|
NM_016156.6(MTMR2):c.797G>A (p.Arg266His)
|
rs775237206
|
0.00001
|
NM_016156.6(MTMR2):c.805-9C>G
|
rs767328220
|
0.00001
|
NM_016156.6(MTMR2):c.829A>C (p.Ser277Arg)
|
rs779257949
|
0.00001
|
NM_016156.6(MTMR2):c.848G>A (p.Arg283Gln)
|
rs374629187
|
0.00001
|
NM_016156.6(MTMR2):c.884G>A (p.Arg295Gln)
|
rs777854770
|
0.00001
|
NM_016156.6(MTMR2):c.92C>T (p.Ser31Phe)
|
rs748872681
|
0.00001
|
NM_018972.4(GDAP1):c.106A>C (p.Ser36Arg)
|
rs1448664085
|
0.00001
|
NM_018972.4(GDAP1):c.109T>A (p.Ser37Thr)
|
rs756121249
|
0.00001
|
NM_018972.4(GDAP1):c.151T>C (p.Cys51Arg)
|
rs960211384
|
0.00001
|
NM_018972.4(GDAP1):c.153C>T (p.Cys51=)
|
rs1413222465
|
0.00001
|
NM_018972.4(GDAP1):c.161A>G (p.His54Arg)
|
rs1441803924
|
0.00001
|
NM_018972.4(GDAP1):c.209G>T (p.Arg70Leu)
|
rs775739690
|
0.00001
|
NM_018972.4(GDAP1):c.338A>G (p.Lys113Arg)
|
rs1290008555
|
0.00001
|
NM_018972.4(GDAP1):c.385G>A (p.Asp129Asn)
|
rs1279013936
|
0.00001
|
NM_018972.4(GDAP1):c.400G>T (p.Asp134Tyr)
|
rs1809295867
|
0.00001
|
NM_018972.4(GDAP1):c.419G>T (p.Cys140Phe)
|
rs1375032292
|
0.00001
|
NM_018972.4(GDAP1):c.484+4T>C
|
rs1318164702
|
0.00001
|
NM_018972.4(GDAP1):c.523G>C (p.Ala175Pro)
|
rs1362886530
|
0.00001
|
NM_018972.4(GDAP1):c.526G>A (p.Glu176Lys)
|
rs1475695228
|
0.00001
|
NM_018972.4(GDAP1):c.577A>C (p.Lys193Gln)
|
rs1085307665
|
0.00001
|
NM_018972.4(GDAP1):c.5C>G (p.Ala2Gly)
|
rs376868259
|
0.00001
|
NM_018972.4(GDAP1):c.614T>C (p.Leu205Ser)
|
rs878855054
|
0.00001
|
NM_018972.4(GDAP1):c.619A>G (p.Lys207Glu)
|
rs1443360585
|
0.00001
|
NM_018972.4(GDAP1):c.620A>C (p.Lys207Thr)
|
rs140384868
|
0.00001
|
NM_018972.4(GDAP1):c.680A>G (p.Asn227Ser)
|
rs1026680509
|
0.00001
|
NM_018972.4(GDAP1):c.695-9T>A
|
rs906225606
|
0.00001
|
NM_018972.4(GDAP1):c.70G>T (p.Val24Phe)
|
rs1406620213
|
0.00001
|
NM_018972.4(GDAP1):c.710C>G (p.Pro237Arg)
|
rs763963750
|
0.00001
|
NM_018972.4(GDAP1):c.745G>A (p.Val249Ile)
|
rs753181104
|
0.00001
|
NM_018972.4(GDAP1):c.770G>A (p.Arg257Gln)
|
rs1425323007
|
0.00001
|
NM_018972.4(GDAP1):c.874G>A (p.Val292Ile)
|
rs767553697
|
0.00001
|
NM_018972.4(GDAP1):c.892A>C (p.Asn298His)
|
rs1470584902
|
0.00001
|
NM_018972.4(GDAP1):c.907G>T (p.Ala303Ser)
|
rs368055667
|
0.00001
|
NM_018972.4(GDAP1):c.919A>G (p.Thr307Ala)
|
rs1356175561
|
0.00001
|
NM_018972.4(GDAP1):c.985C>T (p.Leu329Phe)
|
rs879254196
|
0.00001
|
NM_020631.6(PLEKHG5):c.1054A>G (p.Ile352Val)
|
rs200802048
|
0.00001
|
NM_020631.6(PLEKHG5):c.1067G>A (p.Arg356Gln)
|
rs61743372
|
0.00001
|
NM_020631.6(PLEKHG5):c.1081-3C>T
|
rs772519809
|
0.00001
|
NM_020631.6(PLEKHG5):c.1082T>G (p.Leu361Arg)
|
rs762368406
|
0.00001
|
NM_020631.6(PLEKHG5):c.10G>A (p.Asp4Asn)
|
rs372434052
|
0.00001
|
NM_020631.6(PLEKHG5):c.1131+5G>T
|
rs1293986972
|
0.00001
|
NM_020631.6(PLEKHG5):c.1139C>T (p.Ala380Val)
|
rs374286001
|
0.00001
|
NM_020631.6(PLEKHG5):c.1142A>G (p.Glu381Gly)
|
rs1327802744
|
0.00001
|
NM_020631.6(PLEKHG5):c.1183C>G (p.Arg395Gly)
|
rs1644589733
|
0.00001
|
NM_020631.6(PLEKHG5):c.1200C>G (p.Ser400Arg)
|
rs755513110
|
0.00001
|
NM_020631.6(PLEKHG5):c.1231C>T (p.Arg411Cys)
|
rs1271841187
|
0.00001
|
NM_020631.6(PLEKHG5):c.1264C>T (p.Leu422Phe)
|
rs779799130
|
0.00001
|
NM_020631.6(PLEKHG5):c.1267A>G (p.Lys423Glu)
|
rs1297083613
|
0.00001
|
NM_020631.6(PLEKHG5):c.1270G>A (p.Gly424Ser)
|
rs1366436495
|
0.00001
|
NM_020631.6(PLEKHG5):c.1286G>C (p.Gly429Ala)
|
rs1304686030
|
0.00001
|
NM_020631.6(PLEKHG5):c.1295T>C (p.Phe432Ser)
|
rs1384133118
|
0.00001
|
NM_020631.6(PLEKHG5):c.1360C>T (p.Arg454Cys)
|
rs200086651
|
0.00001
|
NM_020631.6(PLEKHG5):c.1391C>T (p.Thr464Met)
|
rs777612808
|
0.00001
|
NM_020631.6(PLEKHG5):c.1392G>A (p.Thr464=)
|
rs1412619450
|
0.00001
|
NM_020631.6(PLEKHG5):c.140A>C (p.Asp47Ala)
|
rs1180280762
|
0.00001
|
NM_020631.6(PLEKHG5):c.1414T>G (p.Cys472Gly)
|
rs1382976948
|
0.00001
|
NM_020631.6(PLEKHG5):c.1448A>G (p.Lys483Arg)
|
rs1242593815
|
0.00001
|
NM_020631.6(PLEKHG5):c.148G>C (p.Gly50Arg)
|
rs779791612
|
0.00001
|
NM_020631.6(PLEKHG5):c.1496T>G (p.Leu499Arg)
|
rs768323924
|
0.00001
|
NM_020631.6(PLEKHG5):c.1514C>T (p.Pro505Leu)
|
rs770934745
|
0.00001
|
NM_020631.6(PLEKHG5):c.1535T>A (p.Val512Asp)
|
rs548243654
|
0.00001
|
NM_020631.6(PLEKHG5):c.1552G>A (p.Val518Met)
|
rs377602965
|
0.00001
|
NM_020631.6(PLEKHG5):c.1558C>T (p.Arg520Cys)
|
rs999436825
|
0.00001
|
NM_020631.6(PLEKHG5):c.155G>A (p.Arg52Gln)
|
rs1022969911
|
0.00001
|
NM_020631.6(PLEKHG5):c.1576A>G (p.Asn526Asp)
|
rs774755047
|
0.00001
|
NM_020631.6(PLEKHG5):c.1604G>A (p.Arg535Gln)
|
rs752167528
|
0.00001
|
NM_020631.6(PLEKHG5):c.1610G>A (p.Arg537Gln)
|
rs1322468026
|
0.00001
|
NM_020631.6(PLEKHG5):c.1681-3C>T
|
rs370601982
|
0.00001
|
NM_020631.6(PLEKHG5):c.1741G>A (p.Glu581Lys)
|
rs267598690
|
0.00001
|
NM_020631.6(PLEKHG5):c.1874G>A (p.Arg625Lys)
|
rs765998625
|
0.00001
|
NM_020631.6(PLEKHG5):c.1930C>G (p.Pro644Ala)
|
rs781318885
|
0.00001
|
NM_020631.6(PLEKHG5):c.1933+4A>G
|
rs754759840
|
0.00001
|
NM_020631.6(PLEKHG5):c.1934-4C>G
|
rs951050550
|
0.00001
|
NM_020631.6(PLEKHG5):c.1934G>C (p.Gly645Ala)
|
rs749072819
|
0.00001
|
NM_020631.6(PLEKHG5):c.1951T>G (p.Tyr651Asp)
|
rs1644501019
|
0.00001
|
NM_020631.6(PLEKHG5):c.19G>A (p.Val7Ile)
|
rs779425195
|
0.00001
|
NM_020631.6(PLEKHG5):c.2042A>G (p.Asn681Ser)
|
rs936501984
|
0.00001
|
NM_020631.6(PLEKHG5):c.211-3C>T
|
rs754653668
|
0.00001
|
NM_020631.6(PLEKHG5):c.2127T>A (p.Asp709Glu)
|
rs910994587
|
0.00001
|
NM_020631.6(PLEKHG5):c.2249+4C>T
|
rs751575330
|
0.00001
|
NM_020631.6(PLEKHG5):c.2306C>T (p.Thr769Met)
|
rs1000775772
|
0.00001
|
NM_020631.6(PLEKHG5):c.23G>A (p.Arg8His)
|
rs779969203
|
0.00001
|
NM_020631.6(PLEKHG5):c.2411C>T (p.Pro804Leu)
|
rs1400722803
|
0.00001
|
NM_020631.6(PLEKHG5):c.2419C>T (p.Pro807Ser)
|
rs1175956588
|
0.00001
|
NM_020631.6(PLEKHG5):c.2420C>T (p.Pro807Leu)
|
rs371547045
|
0.00001
|
NM_020631.6(PLEKHG5):c.2435C>T (p.Ser812Phe)
|
rs145009237
|
0.00001
|
NM_020631.6(PLEKHG5):c.2438G>A (p.Cys813Tyr)
|
rs771230935
|
0.00001
|
NM_020631.6(PLEKHG5):c.2506A>G (p.Met836Val)
|
rs752621606
|
0.00001
|
NM_020631.6(PLEKHG5):c.2564C>T (p.Ser855Leu)
|
rs768995193
|
0.00001
|
NM_020631.6(PLEKHG5):c.2578C>T (p.Arg860Cys)
|
rs557256913
|
0.00001
|
NM_020631.6(PLEKHG5):c.259A>T (p.Ile87Phe)
|
rs756639742
|
0.00001
|
NM_020631.6(PLEKHG5):c.2642G>A (p.Ser881Asn)
|
rs769702301
|
0.00001
|
NM_020631.6(PLEKHG5):c.2683C>G (p.Pro895Ala)
|
rs753662166
|
0.00001
|
NM_020631.6(PLEKHG5):c.2698C>T (p.Arg900Cys)
|
rs750132016
|
0.00001
|
NM_020631.6(PLEKHG5):c.2713C>T (p.Leu905Phe)
|
rs774696513
|
0.00001
|
NM_020631.6(PLEKHG5):c.271A>T (p.Ile91Phe)
|
rs993754184
|
0.00001
|
NM_020631.6(PLEKHG5):c.2728C>T (p.Pro910Ser)
|
rs1334075760
|
0.00001
|
NM_020631.6(PLEKHG5):c.2737G>C (p.Gly913Arg)
|
rs1407992685
|
0.00001
|
NM_020631.6(PLEKHG5):c.2759C>T (p.Pro920Leu)
|
rs1436307319
|
0.00001
|
NM_020631.6(PLEKHG5):c.2801G>C (p.Ser934Thr)
|
rs1404826523
|
0.00001
|
NM_020631.6(PLEKHG5):c.2818G>A (p.Gly940Arg)
|
rs755699992
|
0.00001
|
NM_020631.6(PLEKHG5):c.2837C>T (p.Ala946Val)
|
rs751158651
|
0.00001
|
NM_020631.6(PLEKHG5):c.292A>G (p.Lys98Glu)
|
rs770771316
|
0.00001
|
NM_020631.6(PLEKHG5):c.2933C>T (p.Ala978Val)
|
rs150133974
|
0.00001
|
NM_020631.6(PLEKHG5):c.2968C>T (p.Arg990Ter)
|
rs772171318
|
0.00001
|
NM_020631.6(PLEKHG5):c.2969G>A (p.Arg990Gln)
|
rs762876171
|
0.00001
|
NM_020631.6(PLEKHG5):c.2989C>G (p.Leu997Val)
|
rs1360003341
|
0.00001
|
NM_020631.6(PLEKHG5):c.2999C>T (p.Thr1000Met)
|
rs781065380
|
0.00001
|
NM_020631.6(PLEKHG5):c.3011+3G>A
|
rs929173295
|
0.00001
|
NM_020631.6(PLEKHG5):c.400G>A (p.Glu134Lys)
|
rs768676402
|
0.00001
|
NM_020631.6(PLEKHG5):c.411G>T (p.Arg137Ser)
|
rs762546636
|
0.00001
|
NM_020631.6(PLEKHG5):c.422A>G (p.His141Arg)
|
rs371931309
|
0.00001
|
NM_020631.6(PLEKHG5):c.47C>G (p.Ser16Cys)
|
rs201090415
|
0.00001
|
NM_020631.6(PLEKHG5):c.484A>G (p.Lys162Glu)
|
rs1644685170
|
0.00001
|
NM_020631.6(PLEKHG5):c.527G>C (p.Gly176Ala)
|
rs531190324
|
0.00001
|
NM_020631.6(PLEKHG5):c.538C>T (p.Pro180Ser)
|
rs752485682
|
0.00001
|
NM_020631.6(PLEKHG5):c.550C>T (p.Arg184Cys)
|
rs760118221
|
0.00001
|
NM_020631.6(PLEKHG5):c.58C>T (p.Arg20Trp)
|
rs776026198
|
0.00001
|
NM_020631.6(PLEKHG5):c.608G>A (p.Arg203His)
|
rs939508255
|
0.00001
|
NM_020631.6(PLEKHG5):c.631G>C (p.Gly211Arg)
|
rs1428031986
|
0.00001
|
NM_020631.6(PLEKHG5):c.649G>A (p.Gly217Arg)
|
rs1253304988
|
0.00001
|
NM_020631.6(PLEKHG5):c.655G>A (p.Glu219Lys)
|
rs774845320
|
0.00001
|
NM_020631.6(PLEKHG5):c.701G>C (p.Gly234Ala)
|
rs1348491680
|
0.00001
|
NM_020631.6(PLEKHG5):c.707C>T (p.Thr236Ile)
|
rs1180691543
|
0.00001
|
NM_020631.6(PLEKHG5):c.746G>A (p.Arg249His)
|
rs1172862216
|
0.00001
|
NM_020631.6(PLEKHG5):c.835A>G (p.Thr279Ala)
|
rs376817987
|
0.00001
|
NM_020631.6(PLEKHG5):c.850G>A (p.Gly284Arg)
|
rs569434019
|
0.00001
|
NM_020631.6(PLEKHG5):c.86C>T (p.Pro29Leu)
|
rs998963899
|
0.00001
|
NM_020631.6(PLEKHG5):c.877C>T (p.Arg293Cys)
|
rs374645103
|
0.00001
|
NM_020631.6(PLEKHG5):c.884A>T (p.Asp295Val)
|
rs1356599252
|
0.00001
|
NM_020631.6(PLEKHG5):c.913G>A (p.Glu305Lys)
|
rs750943470
|
0.00001
|
NM_020631.6(PLEKHG5):c.917A>G (p.Asp306Gly)
|
rs145340974
|
0.00001
|
NM_020631.6(PLEKHG5):c.919G>A (p.Glu307Lys)
|
rs148745591
|
0.00001
|
NM_020631.6(PLEKHG5):c.931A>C (p.Asn311His)
|
rs146020517
|
0.00001
|
NM_020631.6(PLEKHG5):c.95G>C (p.Ser32Thr)
|
rs763262703
|
0.00001
|
NM_020631.6(PLEKHG5):c.961C>T (p.Arg321Trp)
|
rs761456870
|
0.00001
|
NM_020631.6(PLEKHG5):c.995G>A (p.Arg332Gln)
|
rs769390222
|
0.00001
|
NM_021625.5(TRPV4):c.1007G>A (p.Arg336His)
|
rs768028153
|
0.00001
|
NM_021625.5(TRPV4):c.1064G>A (p.Arg355His)
|
rs764715510
|
0.00001
|
NM_021625.5(TRPV4):c.1073C>T (p.Pro358Leu)
|
rs752782460
|
0.00001
|
NM_021625.5(TRPV4):c.1075G>A (p.Asp359Asn)
|
rs774779620
|
0.00001
|
NM_021625.5(TRPV4):c.1084C>A (p.Leu362Met)
|
rs1238768782
|
0.00001
|
NM_021625.5(TRPV4):c.1115C>T (p.Ser372Leu)
|
rs1479394096
|
0.00001
|
NM_021625.5(TRPV4):c.1148T>C (p.Ile383Thr)
|
rs759729089
|
0.00001
|
NM_021625.5(TRPV4):c.1162C>T (p.His388Tyr)
|
rs1201172376
|
0.00001
|
NM_021625.5(TRPV4):c.1184C>T (p.Thr395Met)
|
rs374197231
|
0.00001
|
NM_021625.5(TRPV4):c.1277C>T (p.Thr426Met)
|
rs757522459
|
0.00001
|
NM_021625.5(TRPV4):c.1336C>T (p.Arg446Cys)
|
rs145900289
|
0.00001
|
NM_021625.5(TRPV4):c.1342G>A (p.Glu448Lys)
|
rs373103155
|
0.00001
|
NM_021625.5(TRPV4):c.1390C>T (p.Arg464Cys)
|
rs373049874
|
0.00001
|
NM_021625.5(TRPV4):c.145C>A (p.Pro49Thr)
|
rs546287338
|
0.00001
|
NM_021625.5(TRPV4):c.1469A>G (p.Tyr490Cys)
|
rs745759761
|
0.00001
|
NM_021625.5(TRPV4):c.1478C>T (p.Pro493Leu)
|
rs757284253
|
0.00001
|
NM_021625.5(TRPV4):c.1493C>T (p.Pro498Leu)
|
rs1051494811
|
0.00001
|
NM_021625.5(TRPV4):c.1507C>T (p.Arg503Cys)
|
rs750992130
|
0.00001
|
NM_021625.5(TRPV4):c.1508G>A (p.Arg503His)
|
rs765199576
|
0.00001
|
NM_021625.5(TRPV4):c.1510A>G (p.Thr504Ala)
|
rs762000967
|
0.00001
|
NM_021625.5(TRPV4):c.1522T>C (p.Tyr508His)
|
rs1167973138
|
0.00001
|
NM_021625.5(TRPV4):c.1528C>T (p.Arg510Trp)
|
rs918220829
|
0.00001
|
NM_021625.5(TRPV4):c.1577T>G (p.Phe526Cys)
|
rs1329377960
|
0.00001
|
NM_021625.5(TRPV4):c.1586T>C (p.Ile529Thr)
|
rs976191720
|
0.00001
|
NM_021625.5(TRPV4):c.159T>A (p.Asp53Glu)
|
rs765021989
|
0.00001
|
NM_021625.5(TRPV4):c.1600A>G (p.Met534Val)
|
rs761079651
|
0.00001
|
NM_021625.5(TRPV4):c.1634T>A (p.Ile545Asn)
|
rs757630049
|
0.00001
|
NM_021625.5(TRPV4):c.1658+5G>A
|
rs756714651
|
0.00001
|
NM_021625.5(TRPV4):c.166C>T (p.Arg56Cys)
|
rs775092573
|
0.00001
|
NM_021625.5(TRPV4):c.16G>A (p.Glu6Lys)
|
rs769769057
|
0.00001
|
NM_021625.5(TRPV4):c.1700A>T (p.Tyr567Phe)
|
rs763889344
|
0.00001
|
NM_021625.5(TRPV4):c.1701C>A (p.Tyr567Ter)
|
rs515726156
|
0.00001
|
NM_021625.5(TRPV4):c.184G>A (p.Asp62Asn)
|
rs770149544
|
0.00001
|
NM_021625.5(TRPV4):c.1909A>T (p.Asn637Tyr)
|
rs1417825919
|
0.00001
|
NM_021625.5(TRPV4):c.19G>T (p.Gly7Cys)
|
rs1258802633
|
0.00001
|
NM_021625.5(TRPV4):c.2035G>A (p.Gly679Ser)
|
rs1413159026
|
0.00001
|
NM_021625.5(TRPV4):c.2038A>G (p.Met680Val)
|
rs114408421
|
0.00001
|
NM_021625.5(TRPV4):c.2042G>A (p.Gly681Asp)
|
rs766420746
|
0.00001
|
NM_021625.5(TRPV4):c.2077G>A (p.Val693Met)
|
rs761952727
|
0.00001
|
NM_021625.5(TRPV4):c.209A>T (p.Lys70Met)
|
rs1437603973
|
0.00001
|
NM_021625.5(TRPV4):c.20G>A (p.Gly7Asp)
|
rs1213728059
|
0.00001
|
NM_021625.5(TRPV4):c.214C>T (p.Gln72Ter)
|
rs866577166
|
0.00001
|
NM_021625.5(TRPV4):c.2162C>G (p.Thr721Arg)
|
rs1423138633
|
0.00001
|
NM_021625.5(TRPV4):c.2167G>A (p.Gly723Ser)
|
rs1889833666
|
0.00001
|
NM_021625.5(TRPV4):c.2198G>A (p.Trp733Ter)
|
rs200757159
|
0.00001
|
NM_021625.5(TRPV4):c.2209-1G>A
|
rs1262326007
|
0.00001
|
NM_021625.5(TRPV4):c.2236C>G (p.Arg746Gly)
|
rs375189134
|
0.00001
|
NM_021625.5(TRPV4):c.2267T>A (p.Phe756Tyr)
|
rs779238510
|
0.00001
|
NM_021625.5(TRPV4):c.227G>T (p.Arg76Leu)
|
rs1435404361
|
0.00001
|
NM_021625.5(TRPV4):c.2336+1G>A
|
rs771778984
|
0.00001
|
NM_021625.5(TRPV4):c.2387A>G (p.Asn796Ser)
|
rs1188535536
|
0.00001
|
NM_021625.5(TRPV4):c.2425G>A (p.Gly809Ser)
|
rs375851168
|
0.00001
|
NM_021625.5(TRPV4):c.2440G>T (p.Val814Leu)
|
rs202075458
|
0.00001
|
NM_021625.5(TRPV4):c.2446C>T (p.Arg816Cys)
|
rs748742151
|
0.00001
|
NM_021625.5(TRPV4):c.2447G>A (p.Arg816His)
|
rs1431224527
|
0.00001
|
NM_021625.5(TRPV4):c.2452C>T (p.Arg818Cys)
|
rs776544875
|
0.00001
|
NM_021625.5(TRPV4):c.2458G>T (p.Asp820Tyr)
|
rs768849310
|
0.00001
|
NM_021625.5(TRPV4):c.2459A>G (p.Asp820Gly)
|
rs754158623
|
0.00001
|
NM_021625.5(TRPV4):c.2499C>A (p.Asn833Lys)
|
rs147045782
|
0.00001
|
NM_021625.5(TRPV4):c.2507C>T (p.Ser836Leu)
|
rs768620169
|
0.00001
|
NM_021625.5(TRPV4):c.2555G>A (p.Arg852His)
|
rs1276147923
|
0.00001
|
NM_021625.5(TRPV4):c.2558G>A (p.Cys853Tyr)
|
rs771139646
|
0.00001
|
NM_021625.5(TRPV4):c.2560G>A (p.Asp854Asn)
|
rs368963822
|
0.00001
|
NM_021625.5(TRPV4):c.26G>A (p.Arg9His)
|
rs776163103
|
0.00001
|
NM_021625.5(TRPV4):c.331G>A (p.Gly111Ser)
|
rs768721947
|
0.00001
|
NM_021625.5(TRPV4):c.340C>T (p.Arg114Cys)
|
rs747135844
|
0.00001
|
NM_021625.5(TRPV4):c.341G>A (p.Arg114His)
|
rs780302795
|
0.00001
|
NM_021625.5(TRPV4):c.345C>G (p.His115Gln)
|
rs1420465373
|
0.00001
|
NM_021625.5(TRPV4):c.384A>G (p.Ile128Met)
|
rs1891728218
|
0.00001
|
NM_021625.5(TRPV4):c.395C>T (p.Pro132Leu)
|
rs779371027
|
0.00001
|
NM_021625.5(TRPV4):c.425C>T (p.Pro142Leu)
|
rs1193945019
|
0.00001
|
NM_021625.5(TRPV4):c.442G>A (p.Val148Ile)
|
rs998631604
|
0.00001
|
NM_021625.5(TRPV4):c.472G>A (p.Val158Met)
|
rs746905653
|
0.00001
|
NM_021625.5(TRPV4):c.502G>A (p.Gly168Arg)
|
rs756559560
|
0.00001
|
NM_021625.5(TRPV4):c.50A>G (p.Glu17Gly)
|
rs989621170
|
0.00001
|
NM_021625.5(TRPV4):c.536G>A (p.Arg179His)
|
rs1362478789
|
0.00001
|
NM_021625.5(TRPV4):c.556C>T (p.Arg186Ter)
|
rs773622769
|
0.00001
|
NM_021625.5(TRPV4):c.58G>A (p.Gly20Arg)
|
rs764970185
|
0.00001
|
NM_021625.5(TRPV4):c.593C>G (p.Ala198Gly)
|
rs775317084
|
0.00001
|
NM_021625.5(TRPV4):c.622G>A (p.Asp208Asn)
|
rs769445973
|
0.00001
|
NM_021625.5(TRPV4):c.650C>T (p.Ala217Val)
|
rs548909101
|
0.00001
|
NM_021625.5(TRPV4):c.686C>T (p.Ser229Leu)
|
rs373980330
|
0.00001
|
NM_021625.5(TRPV4):c.69T>G (p.Ser23Arg)
|
rs970940485
|
0.00001
|
NM_021625.5(TRPV4):c.712+5G>A
|
rs372251308
|
0.00001
|
NM_021625.5(TRPV4):c.737T>C (p.Ile246Thr)
|
rs1200887655
|
0.00001
|
NM_021625.5(TRPV4):c.799C>G (p.Gln267Glu)
|
rs1323996959
|
0.00001
|
NM_021625.5(TRPV4):c.811C>T (p.Arg271Cys)
|
rs1227793261
|
0.00001
|
NM_021625.5(TRPV4):c.877G>A (p.Ala293Thr)
|
rs1054889070
|
0.00001
|
NM_021625.5(TRPV4):c.904A>T (p.Asn302Tyr)
|
rs780551685
|
0.00001
|
NM_021625.5(TRPV4):c.915G>A (p.Thr305=)
|
rs1565870990
|
0.00001
|
NM_021625.5(TRPV4):c.922C>T (p.Pro308Ser)
|
rs1257302371
|
0.00001
|
NM_021625.5(TRPV4):c.935C>T (p.Ala312Val)
|
rs751139506
|
0.00001
|
NM_021625.5(TRPV4):c.940A>G (p.Met314Val)
|
rs151101009
|
0.00001
|
NM_021629.4(GNB4):c.204-2A>G
|
rs1410643364
|
0.00001
|
NM_021629.4(GNB4):c.43C>T (p.Arg15Trp)
|
rs765056278
|
0.00001
|
NM_021629.4(GNB4):c.592A>T (p.Thr198Ser)
|
rs776836938
|
0.00001
|
NM_021629.4(GNB4):c.630A>T (p.Leu210Phe)
|
rs779372670
|
0.00001
|
NM_021629.4(GNB4):c.689A>G (p.Asn230Ser)
|
rs1459911526
|
0.00001
|
NM_021629.4(GNB4):c.700-3T>C
|
rs199620294
|
0.00001
|
NM_021629.4(GNB4):c.714A>G (p.Gly238=)
|
rs1433615086
|
0.00001
|
NM_021629.4(GNB4):c.766C>T (p.Arg256Cys)
|
rs971032854
|
0.00001
|
NM_021629.4(GNB4):c.797A>G (p.His266Arg)
|
rs375559586
|
0.00001
|
NM_021629.4(GNB4):c.799G>A (p.Asp267Asn)
|
rs752762550
|
0.00001
|
NM_021629.4(GNB4):c.7G>A (p.Glu3Lys)
|
rs955229785
|
0.00001
|
NM_021629.4(GNB4):c.898C>G (p.Leu300Val)
|
rs1390536220
|
0.00001
|
NM_021629.4(GNB4):c.903A>T (p.Lys301Asn)
|
rs1167931862
|
0.00001
|
NM_021629.4(GNB4):c.915A>G (p.Ala305=)
|
rs1281047589
|
0.00001
|
NM_021629.4(GNB4):c.927T>A (p.Ala309=)
|
rs769787081
|
0.00001
|
NM_021629.4(GNB4):c.941G>A (p.Arg314His)
|
rs747095396
|
0.00001
|
NM_021629.4(GNB4):c.95A>G (p.Gln32Arg)
|
rs1440906446
|
0.00001
|
NM_022489.4(INF2):c.1109G>T (p.Gly370Val)
|
rs772790262
|
0.00001
|
NM_022489.4(INF2):c.1337T>A (p.Leu446Gln)
|
rs775331561
|
0.00001
|
NM_022489.4(INF2):c.1414C>A (p.Pro472Thr)
|
rs1316096936
|
0.00001
|
NM_022489.4(INF2):c.1423C>G (p.Pro475Ala)
|
rs1271375014
|
0.00001
|
NM_022489.4(INF2):c.1436C>T (p.Pro479Leu)
|
rs1203712573
|
0.00001
|
NM_022489.4(INF2):c.1447T>G (p.Ser483Ala)
|
rs1218562289
|
0.00001
|
NM_022489.4(INF2):c.1471C>T (p.Pro491Ser)
|
rs1378009593
|
0.00001
|
NM_022489.4(INF2):c.1484C>T (p.Pro495Leu)
|
rs756913857
|
0.00001
|
NM_022489.4(INF2):c.1577G>A (p.Cys526Tyr)
|
rs751942076
|
0.00001
|
NM_022489.4(INF2):c.1593G>A (p.Ala531=)
|
rs186326868
|
0.00001
|
NM_022489.4(INF2):c.1601T>C (p.Met534Thr)
|
rs772037388
|
0.00001
|
NM_022489.4(INF2):c.1612A>G (p.Ile538Val)
|
rs377402690
|
0.00001
|
NM_022489.4(INF2):c.1646C>T (p.Ala549Val)
|
rs1191795011
|
0.00001
|
NM_022489.4(INF2):c.1734T>G (p.Arg578=)
|
rs762313731
|
0.00001
|
NM_022489.4(INF2):c.1777G>A (p.Glu593Lys)
|
rs775320095
|
0.00001
|
NM_022489.4(INF2):c.1959G>C (p.Glu653Asp)
|
rs1047172155
|
0.00001
|
NM_022489.4(INF2):c.1962G>C (p.Glu654Asp)
|
rs1378876029
|
0.00001
|
NM_022489.4(INF2):c.2090A>T (p.Lys697Met)
|
rs1256555211
|
0.00001
|
NM_022489.4(INF2):c.2128G>C (p.Ala710Pro)
|
rs373806518
|
0.00001
|
NM_022489.4(INF2):c.2180C>T (p.Ala727Val)
|
rs1156240396
|
0.00001
|
NM_022489.4(INF2):c.2310_2310+2dup
|
rs1424859343
|
0.00001
|
NM_022489.4(INF2):c.2315G>C (p.Ser772Thr)
|
rs774280485
|
0.00001
|
NM_022489.4(INF2):c.2491A>T (p.Ile831Phe)
|
rs751004003
|
0.00001
|
NM_022489.4(INF2):c.2585A>G (p.Gln862Arg)
|
rs1471229828
|
0.00001
|
NM_022489.4(INF2):c.2596A>G (p.Thr866Ala)
|
rs753660816
|
0.00001
|
NM_022489.4(INF2):c.2641G>A (p.Glu881Lys)
|
rs1314746427
|
0.00001
|
NM_022489.4(INF2):c.2671C>T (p.Arg891Trp)
|
rs926222455
|
0.00001
|
NM_022489.4(INF2):c.2841G>C (p.Glu947Asp)
|
rs1243295333
|
0.00001
|
NM_022489.4(INF2):c.2843A>C (p.Glu948Ala)
|
rs1473555311
|
0.00001
|
NM_022489.4(INF2):c.2863G>C (p.Glu955Gln)
|
rs1440140886
|
0.00001
|
NM_022489.4(INF2):c.2879-3C>T
|
rs757145852
|
0.00001
|
NM_022489.4(INF2):c.2908G>A (p.Val970Met)
|
rs977752085
|
0.00001
|
NM_022489.4(INF2):c.2923G>T (p.Ala975Ser)
|
rs776214674
|
0.00001
|
NM_022489.4(INF2):c.3037C>A (p.Pro1013Thr)
|
rs1389268909
|
0.00001
|
NM_022489.4(INF2):c.3041-3C>T
|
rs1157403781
|
0.00001
|
NM_022489.4(INF2):c.3083G>A (p.Arg1028His)
|
rs1368908308
|
0.00001
|
NM_022489.4(INF2):c.3104G>A (p.Gly1035Asp)
|
rs751648279
|
0.00001
|
NM_022489.4(INF2):c.3115A>G (p.Thr1039Ala)
|
rs1316234873
|
0.00001
|
NM_022489.4(INF2):c.3305C>T (p.Pro1102Leu)
|
rs779176784
|
0.00001
|
NM_022489.4(INF2):c.3412C>G (p.Leu1138Val)
|
rs759925463
|
0.00001
|
NM_022489.4(INF2):c.3605C>T (p.Ser1202Leu)
|
rs751351877
|
0.00001
|
NM_022489.4(INF2):c.3625A>G (p.Arg1209Gly)
|
rs989477091
|
0.00001
|
NM_022489.4(INF2):c.3662G>C (p.Arg1221Pro)
|
rs754128326
|
0.00001
|
NM_022489.4(INF2):c.368G>A (p.Gly123Asp)
|
rs994483790
|
0.00001
|
NM_022489.4(INF2):c.3712G>A (p.Asp1238Asn)
|
rs1290467030
|
0.00001
|
NM_022489.4(INF2):c.410T>G (p.Val137Gly)
|
rs760611306
|
0.00001
|
NM_022489.4(INF2):c.509C>T (p.Thr170Met)
|
rs767698763
|
0.00001
|
NM_022489.4(INF2):c.571G>A (p.Val191Met)
|
rs1416500072
|
0.00001
|
NM_022489.4(INF2):c.634C>T (p.Arg212Cys)
|
rs748481552
|
0.00001
|
NM_022489.4(INF2):c.667G>A (p.Gly223Arg)
|
rs1209201341
|
0.00001
|
NM_022489.4(INF2):c.695G>A (p.Arg232His)
|
rs767940514
|
0.00001
|
NM_022489.4(INF2):c.706C>G (p.Leu236Val)
|
rs774921607
|
0.00001
|
NM_022489.4(INF2):c.745G>A (p.Glu249Lys)
|
rs375843743
|
0.00001
|
NM_022489.4(INF2):c.76A>C (p.Thr26Pro)
|
rs1889488972
|
0.00001
|
NM_022489.4(INF2):c.782G>A (p.Arg261Gln)
|
rs749543418
|
0.00001
|
NM_022489.4(INF2):c.986-9C>G
|
rs761206810
|
0.00001
|
NM_024577.4(SH3TC2):c.1002-5T>A
|
rs769711653
|
0.00001
|
NM_024577.4(SH3TC2):c.1006A>G (p.Arg336Gly)
|
rs781032352
|
0.00001
|
NM_024577.4(SH3TC2):c.1130G>A (p.Arg377Gln)
|
rs1450931349
|
0.00001
|
NM_024577.4(SH3TC2):c.1196T>A (p.Phe399Tyr)
|
rs763564639
|
0.00001
|
NM_024577.4(SH3TC2):c.11G>T (p.Cys4Phe)
|
rs562967549
|
0.00001
|
NM_024577.4(SH3TC2):c.1217G>T (p.Arg406Ile)
|
rs761907624
|
0.00001
|
NM_024577.4(SH3TC2):c.1260C>A (p.Ser420Arg)
|
rs766814812
|
0.00001
|
NM_024577.4(SH3TC2):c.1265C>T (p.Ser422Phe)
|
rs754865697
|
0.00001
|
NM_024577.4(SH3TC2):c.1319G>A (p.Arg440His)
|
rs755748579
|
0.00001
|
NM_024577.4(SH3TC2):c.1335T>G (p.Asp445Glu)
|
rs1234203055
|
0.00001
|
NM_024577.4(SH3TC2):c.1355T>C (p.Leu452Pro)
|
rs1235312791
|
0.00001
|
NM_024577.4(SH3TC2):c.1383G>T (p.Glu461Asp)
|
rs1326032447
|
0.00001
|
NM_024577.4(SH3TC2):c.1436A>G (p.Tyr479Cys)
|
rs757167683
|
0.00001
|
NM_024577.4(SH3TC2):c.1448T>G (p.Phe483Cys)
|
rs751644174
|
0.00001
|
NM_024577.4(SH3TC2):c.1460A>G (p.Tyr487Cys)
|
rs763417948
|
0.00001
|
NM_024577.4(SH3TC2):c.1468T>G (p.Ser490Ala)
|
rs372841815
|
0.00001
|
NM_024577.4(SH3TC2):c.152-8T>A
|
rs1350673664
|
0.00001
|
NM_024577.4(SH3TC2):c.1606C>T (p.Arg536Trp)
|
rs777043032
|
0.00001
|
NM_024577.4(SH3TC2):c.1639G>A (p.Ala547Thr)
|
rs1324539774
|
0.00001
|
NM_024577.4(SH3TC2):c.1651T>C (p.Phe551Leu)
|
rs1554121720
|
0.00001
|
NM_024577.4(SH3TC2):c.1763G>T (p.Gly588Val)
|
rs760899669
|
0.00001
|
NM_024577.4(SH3TC2):c.179G>A (p.Ser60Asn)
|
rs1436597179
|
0.00001
|
NM_024577.4(SH3TC2):c.1832A>G (p.His611Arg)
|
rs1252838387
|
0.00001
|
NM_024577.4(SH3TC2):c.1840G>A (p.Asp614Asn)
|
rs201789838
|
0.00001
|
NM_024577.4(SH3TC2):c.1877T>C (p.Val626Ala)
|
rs779061678
|
0.00001
|
NM_024577.4(SH3TC2):c.1889C>T (p.Pro630Leu)
|
rs749260578
|
0.00001
|
NM_024577.4(SH3TC2):c.1915G>A (p.Ala639Thr)
|
rs781671812
|
0.00001
|
NM_024577.4(SH3TC2):c.2039A>G (p.Tyr680Cys)
|
rs763952745
|
0.00001
|
NM_024577.4(SH3TC2):c.2041G>T (p.Asp681Tyr)
|
rs1329516289
|
0.00001
|
NM_024577.4(SH3TC2):c.2083C>G (p.Gln695Glu)
|
rs770170997
|
0.00001
|
NM_024577.4(SH3TC2):c.2140G>C (p.Val714Leu)
|
rs1303051798
|
0.00001
|
NM_024577.4(SH3TC2):c.214G>A (p.Glu72Lys)
|
rs779075488
|
0.00001
|
NM_024577.4(SH3TC2):c.224G>A (p.Arg75Gln)
|
rs749772988
|
0.00001
|
NM_024577.4(SH3TC2):c.2256C>G (p.Asp752Glu)
|
rs897500539
|
0.00001
|
NM_024577.4(SH3TC2):c.2305G>A (p.Glu769Lys)
|
rs764436192
|
0.00001
|
NM_024577.4(SH3TC2):c.2309A>G (p.His770Arg)
|
rs926165676
|
0.00001
|
NM_024577.4(SH3TC2):c.230G>A (p.Arg77Gln)
|
rs756666549
|
0.00001
|
NM_024577.4(SH3TC2):c.2317C>T (p.Pro773Ser)
|
rs1416387782
|
0.00001
|
NM_024577.4(SH3TC2):c.2352G>T (p.Leu784Phe)
|
rs754938951
|
0.00001
|
NM_024577.4(SH3TC2):c.2407G>A (p.Ala803Thr)
|
rs377434575
|
0.00001
|
NM_024577.4(SH3TC2):c.2470T>C (p.Cys824Arg)
|
rs1554121601
|
0.00001
|
NM_024577.4(SH3TC2):c.2506G>A (p.Gly836Arg)
|
rs768389060
|
0.00001
|
NM_024577.4(SH3TC2):c.2516A>G (p.Tyr839Cys)
|
rs202139757
|
0.00001
|
NM_024577.4(SH3TC2):c.2528G>A (p.Gly843Glu)
|
rs1463859150
|
0.00001
|
NM_024577.4(SH3TC2):c.2749A>G (p.Met917Val)
|
rs1232735360
|
0.00001
|
NM_024577.4(SH3TC2):c.279+4A>G
|
rs371909418
|
0.00001
|
NM_024577.4(SH3TC2):c.2894C>T (p.Ser965Phe)
|
rs1220087441
|
0.00001
|
NM_024577.4(SH3TC2):c.2951A>G (p.His984Arg)
|
rs978452363
|
0.00001
|
NM_024577.4(SH3TC2):c.3097A>G (p.Ile1033Val)
|
rs794727104
|
0.00001
|
NM_024577.4(SH3TC2):c.3116A>C (p.Glu1039Ala)
|
rs777209545
|
0.00001
|
NM_024577.4(SH3TC2):c.3149C>T (p.Ala1050Val)
|
rs570067509
|
0.00001
|
NM_024577.4(SH3TC2):c.3157C>T (p.Leu1053Phe)
|
rs772753479
|
0.00001
|
NM_024577.4(SH3TC2):c.3160C>T (p.His1054Tyr)
|
rs769133498
|
0.00001
|
NM_024577.4(SH3TC2):c.3204+6C>T
|
rs763394102
|
0.00001
|
NM_024577.4(SH3TC2):c.3211A>G (p.Ile1071Val)
|
rs1753764548
|
0.00001
|
NM_024577.4(SH3TC2):c.3254A>G (p.Lys1085Arg)
|
rs750149369
|
0.00001
|
NM_024577.4(SH3TC2):c.3283T>C (p.Phe1095Leu)
|
rs1248817393
|
0.00001
|
NM_024577.4(SH3TC2):c.3286A>G (p.Asn1096Asp)
|
rs1228973233
|
0.00001
|
NM_024577.4(SH3TC2):c.3308A>G (p.His1103Arg)
|
rs780363659
|
0.00001
|
NM_024577.4(SH3TC2):c.3332G>T (p.Gly1111Val)
|
rs200801053
|
0.00001
|
NM_024577.4(SH3TC2):c.3340C>G (p.Pro1114Ala)
|
rs757935041
|
0.00001
|
NM_024577.4(SH3TC2):c.3374A>G (p.Glu1125Gly)
|
rs1169028062
|
0.00001
|
NM_024577.4(SH3TC2):c.3409A>G (p.Ile1137Val)
|
rs913598475
|
0.00001
|
NM_024577.4(SH3TC2):c.3526T>G (p.Tyr1176Asp)
|
rs777028943
|
0.00001
|
NM_024577.4(SH3TC2):c.3682C>T (p.His1228Tyr)
|
rs1371380897
|
0.00001
|
NM_024577.4(SH3TC2):c.3710C>T (p.Ala1237Val)
|
rs778953792
|
0.00001
|
NM_024577.4(SH3TC2):c.3760A>G (p.Arg1254Gly)
|
rs765921861
|
0.00001
|
NM_024577.4(SH3TC2):c.3761G>A (p.Arg1254Lys)
|
rs1229941957
|
0.00001
|
NM_024577.4(SH3TC2):c.3818G>A (p.Cys1273Tyr)
|
rs781625125
|
0.00001
|
NM_024577.4(SH3TC2):c.443G>A (p.Cys148Tyr)
|
rs1483097983
|
0.00001
|
NM_024577.4(SH3TC2):c.450G>C (p.Leu150Phe)
|
rs542260900
|
0.00001
|
NM_024577.4(SH3TC2):c.509T>G (p.Leu170Arg)
|
rs1754392249
|
0.00001
|
NM_024577.4(SH3TC2):c.53-3C>T
|
rs771541595
|
0.00001
|
NM_024577.4(SH3TC2):c.559G>A (p.Val187Met)
|
rs745613768
|
0.00001
|
NM_024577.4(SH3TC2):c.56A>G (p.Lys19Arg)
|
rs778863028
|
0.00001
|
NM_024577.4(SH3TC2):c.578A>G (p.Lys193Arg)
|
rs569256459
|
0.00001
|
NM_024577.4(SH3TC2):c.596C>T (p.Thr199Ile)
|
rs368872316
|
0.00001
|
NM_024577.4(SH3TC2):c.629T>C (p.Met210Thr)
|
rs1472681520
|
0.00001
|
NM_024577.4(SH3TC2):c.635A>G (p.Glu212Gly)
|
rs774120657
|
0.00001
|
NM_024577.4(SH3TC2):c.646G>A (p.Glu216Lys)
|
rs867509336
|
0.00001
|
NM_024577.4(SH3TC2):c.657C>T (p.Gly219=)
|
rs781321213
|
0.00001
|
NM_024577.4(SH3TC2):c.680G>A (p.Arg227Gln)
|
rs1257812868
|
0.00001
|
NM_024577.4(SH3TC2):c.713T>G (p.Leu238Arg)
|
rs1210345750
|
0.00001
|
NM_024577.4(SH3TC2):c.739C>G (p.Leu247Val)
|
rs772820273
|
0.00001
|
NM_024577.4(SH3TC2):c.75T>A (p.Asp25Glu)
|
rs755164059
|
0.00001
|
NM_024577.4(SH3TC2):c.815G>A (p.Arg272His)
|
rs746737375
|
0.00001
|
NM_024577.4(SH3TC2):c.82G>C (p.Val28Leu)
|
rs1399431033
|
0.00001
|
NM_024577.4(SH3TC2):c.880A>T (p.Ser294Cys)
|
rs748663288
|
0.00001
|
NM_024577.4(SH3TC2):c.89G>A (p.Ser30Asn)
|
rs765890403
|
0.00001
|
NM_024577.4(SH3TC2):c.904A>G (p.Ile302Val)
|
rs745345448
|
0.00001
|
NM_024577.4(SH3TC2):c.924C>A (p.Phe308Leu)
|
rs753884201
|
0.00001
|
NM_024577.4(SH3TC2):c.956G>T (p.Gly319Val)
|
rs753423455
|
0.00001
|
NM_030962.4(SBF2):c.1025G>A (p.Arg342Gln)
|
rs954771068
|
0.00001
|
NM_030962.4(SBF2):c.1050G>A (p.Met350Ile)
|
rs1947549366
|
0.00001
|
NM_030962.4(SBF2):c.1061A>C (p.Glu354Ala)
|
rs761829741
|
0.00001
|
NM_030962.4(SBF2):c.1083A>G (p.Arg361=)
|
rs1362168505
|
0.00001
|
NM_030962.4(SBF2):c.109G>C (p.Asp37His)
|
rs759977048
|
0.00001
|
NM_030962.4(SBF2):c.1124A>G (p.Gln375Arg)
|
rs770153492
|
0.00001
|
NM_030962.4(SBF2):c.1158T>G (p.His386Gln)
|
rs780071398
|
0.00001
|
NM_030962.4(SBF2):c.1163A>G (p.His388Arg)
|
rs1397329019
|
0.00001
|
NM_030962.4(SBF2):c.118C>T (p.Pro40Ser)
|
rs1194397200
|
0.00001
|
NM_030962.4(SBF2):c.1222C>T (p.Leu408Phe)
|
rs1220835376
|
0.00001
|
NM_030962.4(SBF2):c.1226G>T (p.Ser409Ile)
|
rs1183650459
|
0.00001
|
NM_030962.4(SBF2):c.1277C>A (p.Ser426Tyr)
|
rs759009170
|
0.00001
|
NM_030962.4(SBF2):c.1316A>T (p.Glu439Val)
|
rs754505342
|
0.00001
|
NM_030962.4(SBF2):c.1337A>G (p.Asn446Ser)
|
rs762615474
|
0.00001
|
NM_030962.4(SBF2):c.1345G>C (p.Val449Leu)
|
rs1441833591
|
0.00001
|
NM_030962.4(SBF2):c.141+5G>A
|
rs1284700305
|
0.00001
|
NM_030962.4(SBF2):c.1460G>A (p.Arg487Gln)
|
rs538390886
|
0.00001
|
NM_030962.4(SBF2):c.1582C>G (p.Pro528Ala)
|
rs745328047
|
0.00001
|
NM_030962.4(SBF2):c.1594C>T (p.Pro532Ser)
|
rs1001858508
|
0.00001
|
NM_030962.4(SBF2):c.1598T>C (p.Val533Ala)
|
rs756897983
|
0.00001
|
NM_030962.4(SBF2):c.1604C>T (p.Ser535Leu)
|
rs542028180
|
0.00001
|
NM_030962.4(SBF2):c.1610T>C (p.Met537Thr)
|
rs1278738726
|
0.00001
|
NM_030962.4(SBF2):c.1799G>A (p.Arg600Gln)
|
rs185968327
|
0.00001
|
NM_030962.4(SBF2):c.1847A>G (p.Asn616Ser)
|
rs1043801815
|
0.00001
|
NM_030962.4(SBF2):c.1852A>G (p.Thr618Ala)
|
rs779355592
|
0.00001
|
NM_030962.4(SBF2):c.1897G>A (p.Ala633Thr)
|
rs775198025
|
0.00001
|
NM_030962.4(SBF2):c.1902A>T (p.Leu634Phe)
|
rs1861220165
|
0.00001
|
NM_030962.4(SBF2):c.1964C>T (p.Thr655Met)
|
rs777190196
|
0.00001
|
NM_030962.4(SBF2):c.2024A>G (p.Asn675Ser)
|
rs375407366
|
0.00001
|
NM_030962.4(SBF2):c.2101G>A (p.Asp701Asn)
|
rs746473762
|
0.00001
|
NM_030962.4(SBF2):c.2113G>A (p.Asp705Asn)
|
rs1388585918
|
0.00001
|
NM_030962.4(SBF2):c.2155G>A (p.Glu719Lys)
|
rs149162783
|
0.00001
|
NM_030962.4(SBF2):c.2165G>A (p.Arg722His)
|
rs768079951
|
0.00001
|
NM_030962.4(SBF2):c.2254A>G (p.Asn752Asp)
|
rs775455068
|
0.00001
|
NM_030962.4(SBF2):c.2284G>A (p.Asp762Asn)
|
rs929805760
|
0.00001
|
NM_030962.4(SBF2):c.230G>A (p.Arg77Gln)
|
rs747102118
|
0.00001
|
NM_030962.4(SBF2):c.2318C>T (p.Ala773Val)
|
rs750527598
|
0.00001
|
NM_030962.4(SBF2):c.2338G>A (p.Gly780Arg)
|
rs775404093
|
0.00001
|
NM_030962.4(SBF2):c.2388C>G (p.Ser796Arg)
|
rs1857121600
|
0.00001
|
NM_030962.4(SBF2):c.2431A>G (p.Ile811Val)
|
rs764765082
|
0.00001
|
NM_030962.4(SBF2):c.2447T>C (p.Val816Ala)
|
rs982821887
|
0.00001
|
NM_030962.4(SBF2):c.2492G>A (p.Gly831Glu)
|
rs770201190
|
0.00001
|
NM_030962.4(SBF2):c.2516G>C (p.Ser839Thr)
|
rs1060500002
|
0.00001
|
NM_030962.4(SBF2):c.2546C>T (p.Ala849Val)
|
rs751319241
|
0.00001
|
NM_030962.4(SBF2):c.2579G>A (p.Arg860Gln)
|
rs1210393129
|
0.00001
|
NM_030962.4(SBF2):c.2662G>A (p.Gly888Ser)
|
rs369589966
|
0.00001
|
NM_030962.4(SBF2):c.2669G>A (p.Arg890Gln)
|
rs755699993
|
0.00001
|
NM_030962.4(SBF2):c.2681A>G (p.Asp894Gly)
|
rs552340604
|
0.00001
|
NM_030962.4(SBF2):c.2704A>G (p.Thr902Ala)
|
rs376463609
|
0.00001
|
NM_030962.4(SBF2):c.2716C>A (p.Leu906Ile)
|
rs760903950
|
0.00001
|
NM_030962.4(SBF2):c.2776C>A (p.Leu926Ile)
|
rs1193714532
|
0.00001
|
NM_030962.4(SBF2):c.2804T>C (p.Leu935Ser)
|
rs751248866
|
0.00001
|
NM_030962.4(SBF2):c.2819C>T (p.Thr940Ile)
|
rs756720332
|
0.00001
|
NM_030962.4(SBF2):c.2872A>G (p.Met958Val)
|
rs901770002
|
0.00001
|
NM_030962.4(SBF2):c.2882A>G (p.Gln961Arg)
|
rs776603587
|
0.00001
|
NM_030962.4(SBF2):c.2935-3T>A
|
rs202116086
|
0.00001
|
NM_030962.4(SBF2):c.2963T>G (p.Val988Gly)
|
rs778766567
|
0.00001
|
NM_030962.4(SBF2):c.3011G>A (p.Arg1004His)
|
rs1157037356
|
0.00001
|
NM_030962.4(SBF2):c.3040G>A (p.Ala1014Thr)
|
rs1404127728
|
0.00001
|
NM_030962.4(SBF2):c.3082A>G (p.Lys1028Glu)
|
rs929108873
|
0.00001
|
NM_030962.4(SBF2):c.3086A>G (p.Gln1029Arg)
|
rs1297679145
|
0.00001
|
NM_030962.4(SBF2):c.3110+5G>T
|
rs898995159
|
0.00001
|
NM_030962.4(SBF2):c.3155A>G (p.Lys1052Arg)
|
rs556594133
|
0.00001
|
NM_030962.4(SBF2):c.3203T>G (p.Ile1068Ser)
|
rs765970008
|
0.00001
|
NM_030962.4(SBF2):c.3277C>T (p.Pro1093Ser)
|
rs953467120
|
0.00001
|
NM_030962.4(SBF2):c.3278C>T (p.Pro1093Leu)
|
rs762973514
|
0.00001
|
NM_030962.4(SBF2):c.3304G>A (p.Glu1102Lys)
|
rs778262784
|
0.00001
|
NM_030962.4(SBF2):c.3316A>G (p.Met1106Val)
|
rs753427715
|
0.00001
|
NM_030962.4(SBF2):c.3436A>T (p.Met1146Leu)
|
rs377277274
|
0.00001
|
NM_030962.4(SBF2):c.3445C>T (p.Leu1149Phe)
|
rs766709811
|
0.00001
|
NM_030962.4(SBF2):c.3451C>T (p.Arg1151Trp)
|
rs140550985
|
0.00001
|
NM_030962.4(SBF2):c.3452G>A (p.Arg1151Gln)
|
rs750893713
|
0.00001
|
NM_030962.4(SBF2):c.3466C>T (p.Leu1156Phe)
|
rs1433995523
|
0.00001
|
NM_030962.4(SBF2):c.350C>G (p.Ala117Gly)
|
rs767514383
|
0.00001
|
NM_030962.4(SBF2):c.3517C>T (p.Arg1173Cys)
|
rs779290368
|
0.00001
|
NM_030962.4(SBF2):c.3518G>A (p.Arg1173His)
|
rs757577170
|
0.00001
|
NM_030962.4(SBF2):c.3527G>A (p.Arg1176Gln)
|
rs185264589
|
0.00001
|
NM_030962.4(SBF2):c.3565A>G (p.Arg1189Gly)
|
rs769777008
|
0.00001
|
NM_030962.4(SBF2):c.3598T>C (p.Phe1200Leu)
|
rs749729139
|
0.00001
|
NM_030962.4(SBF2):c.3652G>A (p.Ala1218Thr)
|
rs763594624
|
0.00001
|
NM_030962.4(SBF2):c.3658A>G (p.Thr1220Ala)
|
rs753811515
|
0.00001
|
NM_030962.4(SBF2):c.3668T>C (p.Leu1223Ser)
|
rs760210827
|
0.00001
|
NM_030962.4(SBF2):c.3679A>G (p.Ser1227Gly)
|
rs368618956
|
0.00001
|
NM_030962.4(SBF2):c.3680G>C (p.Ser1227Thr)
|
rs1261598853
|
0.00001
|
NM_030962.4(SBF2):c.3686T>C (p.Ile1229Thr)
|
rs1443759629
|
0.00001
|
NM_030962.4(SBF2):c.3731T>C (p.Val1244Ala)
|
rs757063919
|
0.00001
|
NM_030962.4(SBF2):c.3770G>A (p.Arg1257Lys)
|
rs775982886
|
0.00001
|
NM_030962.4(SBF2):c.3811C>T (p.Arg1271Cys)
|
rs765001700
|
0.00001
|
NM_030962.4(SBF2):c.3814T>A (p.Ser1272Thr)
|
rs760386811
|
0.00001
|
NM_030962.4(SBF2):c.3823C>T (p.Arg1275Cys)
|
rs956737183
|
0.00001
|
NM_030962.4(SBF2):c.3887C>T (p.Ser1296Leu)
|
rs767811228
|
0.00001
|
NM_030962.4(SBF2):c.3931A>G (p.Lys1311Glu)
|
rs200167746
|
0.00001
|
NM_030962.4(SBF2):c.3968C>T (p.Ser1323Leu)
|
rs369288449
|
0.00001
|
NM_030962.4(SBF2):c.4051G>A (p.Ala1351Thr)
|
rs527347035
|
0.00001
|
NM_030962.4(SBF2):c.4102G>A (p.Asp1368Asn)
|
rs144063037
|
0.00001
|
NM_030962.4(SBF2):c.4118T>A (p.Phe1373Tyr)
|
rs753564262
|
0.00001
|
NM_030962.4(SBF2):c.4120C>G (p.Leu1374Val)
|
rs746286799
|
0.00001
|
NM_030962.4(SBF2):c.4123A>G (p.Lys1375Glu)
|
rs1217139040
|
0.00001
|
NM_030962.4(SBF2):c.4138T>A (p.Ser1380Thr)
|
rs1564876099
|
0.00001
|
NM_030962.4(SBF2):c.413G>C (p.Gly138Ala)
|
rs1949191748
|
0.00001
|
NM_030962.4(SBF2):c.4156C>G (p.Leu1386Val)
|
rs771436343
|
0.00001
|
NM_030962.4(SBF2):c.4180G>C (p.Val1394Leu)
|
rs142029000
|
0.00001
|
NM_030962.4(SBF2):c.4186G>A (p.Val1396Ile)
|
rs751799091
|
0.00001
|
NM_030962.4(SBF2):c.4204A>C (p.Asn1402His)
|
rs1590132478
|
0.00001
|
NM_030962.4(SBF2):c.4247T>C (p.Ile1416Thr)
|
rs370601742
|
0.00001
|
NM_030962.4(SBF2):c.4258-4C>G
|
rs757097139
|
0.00001
|
NM_030962.4(SBF2):c.427G>A (p.Val143Met)
|
rs142469360
|
0.00001
|
NM_030962.4(SBF2):c.4288C>T (p.Pro1430Ser)
|
rs1312716983
|
0.00001
|
NM_030962.4(SBF2):c.4373G>A (p.Ser1458Asn)
|
rs1343934459
|
0.00001
|
NM_030962.4(SBF2):c.4443+6T>C
|
rs1450773584
|
0.00001
|
NM_030962.4(SBF2):c.4459C>T (p.Pro1487Ser)
|
rs1590103742
|
0.00001
|
NM_030962.4(SBF2):c.446A>G (p.Asn149Ser)
|
rs1337725457
|
0.00001
|
NM_030962.4(SBF2):c.4640G>A (p.Arg1547Lys)
|
rs200338241
|
0.00001
|
NM_030962.4(SBF2):c.4666T>C (p.Phe1556Leu)
|
rs189911105
|
0.00001
|
NM_030962.4(SBF2):c.474C>G (p.Asn158Lys)
|
rs745535685
|
0.00001
|
NM_030962.4(SBF2):c.4808A>G (p.His1603Arg)
|
rs757498268
|
0.00001
|
NM_030962.4(SBF2):c.4932+5G>A
|
rs764275849
|
0.00001
|
NM_030962.4(SBF2):c.5005G>A (p.Val1669Met)
|
rs757185849
|
0.00001
|
NM_030962.4(SBF2):c.5035C>T (p.Arg1679Cys)
|
rs79401259
|
0.00001
|
NM_030962.4(SBF2):c.5137G>C (p.Glu1713Gln)
|
rs1852290948
|
0.00001
|
NM_030962.4(SBF2):c.5150C>T (p.Ser1717Phe)
|
rs1428957767
|
0.00001
|
NM_030962.4(SBF2):c.5168A>G (p.Asn1723Ser)
|
rs752274961
|
0.00001
|
NM_030962.4(SBF2):c.5180G>A (p.Arg1727Gln)
|
rs765612411
|
0.00001
|
NM_030962.4(SBF2):c.5245A>G (p.Thr1749Ala)
|
rs1288312315
|
0.00001
|
NM_030962.4(SBF2):c.5288G>A (p.Arg1763His)
|
rs770839463
|
0.00001
|
NM_030962.4(SBF2):c.5323C>T (p.Arg1775Cys)
|
rs938347502
|
0.00001
|
NM_030962.4(SBF2):c.5324G>A (p.Arg1775His)
|
rs574665066
|
0.00001
|
NM_030962.4(SBF2):c.5330A>G (p.Tyr1777Cys)
|
rs185926762
|
0.00001
|
NM_030962.4(SBF2):c.5365A>G (p.Ile1789Val)
|
rs746542104
|
0.00001
|
NM_030962.4(SBF2):c.5399C>T (p.Ala1800Val)
|
rs745534248
|
0.00001
|
NM_030962.4(SBF2):c.546G>T (p.Gln182His)
|
rs886047534
|
0.00001
|
NM_030962.4(SBF2):c.5483G>A (p.Cys1828Tyr)
|
rs146064484
|
0.00001
|
NM_030962.4(SBF2):c.5485G>A (p.Ala1829Thr)
|
rs750660963
|
0.00001
|
NM_030962.4(SBF2):c.586G>A (p.Gly196Ser)
|
rs150725040
|
0.00001
|
NM_030962.4(SBF2):c.64G>A (p.Glu22Lys)
|
rs749815764
|
0.00001
|
NM_030962.4(SBF2):c.670G>A (p.Val224Ile)
|
rs1209039793
|
0.00001
|
NM_030962.4(SBF2):c.703A>G (p.Ser235Gly)
|
rs1441387053
|
0.00001
|
NM_030962.4(SBF2):c.761A>G (p.Tyr254Cys)
|
rs1947932613
|
0.00001
|
NM_030962.4(SBF2):c.763A>G (p.Ile255Val)
|
rs1259744769
|
0.00001
|
NM_030962.4(SBF2):c.769A>G (p.Ile257Val)
|
rs756866661
|
0.00001
|
NM_030962.4(SBF2):c.811C>A (p.Pro271Thr)
|
rs1044734721
|
0.00001
|
NM_030962.4(SBF2):c.812C>G (p.Pro271Arg)
|
rs1223197381
|
0.00001
|
NM_030962.4(SBF2):c.830A>C (p.His277Pro)
|
rs1284766357
|
0.00001
|
NM_030962.4(SBF2):c.854A>G (p.His285Arg)
|
rs146971151
|
0.00001
|
NM_030962.4(SBF2):c.869T>G (p.Val290Gly)
|
rs771827174
|
0.00001
|
NM_030962.4(SBF2):c.87G>C (p.Gln29His)
|
rs751336040
|
0.00001
|
NM_030962.4(SBF2):c.8G>A (p.Arg3Gln)
|
rs1964355306
|
0.00001
|
NM_030962.4(SBF2):c.913T>C (p.Cys305Arg)
|
rs758820956
|
0.00001
|
NM_030962.4(SBF2):c.925T>G (p.Ser309Ala)
|
rs1300253311
|
0.00001
|
NM_030973.4(MED25):c.1003G>A (p.Ala335Thr)
|
rs1018204701
|
0.00001
|
NM_030973.4(MED25):c.1006C>T (p.Pro336Ser)
|
rs780177056
|
0.00001
|
NM_030973.4(MED25):c.1039G>C (p.Val347Leu)
|
rs146715554
|
0.00001
|
NM_030973.4(MED25):c.1101+1G>A
|
rs769486726
|
0.00001
|
NM_030973.4(MED25):c.1103C>A (p.Ala368Glu)
|
rs769174134
|
0.00001
|
NM_030973.4(MED25):c.1103C>T (p.Ala368Val)
|
rs769174134
|
0.00001
|
NM_030973.4(MED25):c.1108A>G (p.Thr370Ala)
|
rs201553319
|
0.00001
|
NM_030973.4(MED25):c.112C>A (p.His38Asn)
|
rs1191519479
|
0.00001
|
NM_030973.4(MED25):c.1157C>T (p.Ala386Val)
|
rs1427321438
|
0.00001
|
NM_030973.4(MED25):c.117C>G (p.Tyr39Ter)
|
rs749356375
|
0.00001
|
NM_030973.4(MED25):c.1190A>G (p.Asn397Ser)
|
rs756897347
|
0.00001
|
NM_030973.4(MED25):c.1210G>A (p.Gly404Arg)
|
rs1213960931
|
0.00001
|
NM_030973.4(MED25):c.1230+7G>T
|
rs1412475364
|
0.00001
|
NM_030973.4(MED25):c.1271C>T (p.Thr424Met)
|
rs2074060664
|
0.00001
|
NM_030973.4(MED25):c.1308C>T (p.Gly436=)
|
rs750031901
|
0.00001
|
NM_030973.4(MED25):c.1317-3C>T
|
rs367774572
|
0.00001
|
NM_030973.4(MED25):c.1322C>T (p.Thr441Met)
|
rs754342751
|
0.00001
|
NM_030973.4(MED25):c.135-3C>T
|
rs750459702
|
0.00001
|
NM_030973.4(MED25):c.1366C>T (p.Gln456Ter)
|
rs758524310
|
0.00001
|
NM_030973.4(MED25):c.1395C>A (p.Phe465Leu)
|
rs143046644
|
0.00001
|
NM_030973.4(MED25):c.1396C>T (p.Arg466Trp)
|
rs759187460
|
0.00001
|
NM_030973.4(MED25):c.1442A>G (p.Glu481Gly)
|
rs2074064696
|
0.00001
|
NM_030973.4(MED25):c.1455C>T (p.Gly485=)
|
rs765634152
|
0.00001
|
NM_030973.4(MED25):c.145G>T (p.Gly49Cys)
|
rs780112917
|
0.00001
|
NM_030973.4(MED25):c.1511C>T (p.Ala504Val)
|
rs1479368676
|
0.00001
|
NM_030973.4(MED25):c.1525C>T (p.Arg509Cys)
|
rs1418129935
|
0.00001
|
NM_030973.4(MED25):c.1678G>C (p.Gly560Arg)
|
rs866498468
|
0.00001
|
NM_030973.4(MED25):c.16G>C (p.Glu6Gln)
|
rs755457665
|
0.00001
|
NM_030973.4(MED25):c.1757G>A (p.Arg586His)
|
rs1184393042
|
0.00001
|
NM_030973.4(MED25):c.1778_1779del (p.Gln593fs)
|
rs763039409
|
0.00001
|
NM_030973.4(MED25):c.1888C>A (p.Pro630Thr)
|
rs900142190
|
0.00001
|
NM_030973.4(MED25):c.2023G>A (p.Ala675Thr)
|
rs1448159136
|
0.00001
|
NM_030973.4(MED25):c.2042C>T (p.Pro681Leu)
|
rs974538844
|
0.00001
|
NM_030973.4(MED25):c.2116G>A (p.Ala706Thr)
|
rs762953015
|
0.00001
|
NM_030973.4(MED25):c.2168G>A (p.Gly723Asp)
|
rs2074102870
|
0.00001
|
NM_030973.4(MED25):c.2192C>T (p.Pro731Leu)
|
rs765135124
|
0.00001
|
NM_030973.4(MED25):c.235G>A (p.Glu79Lys)
|
rs1359745073
|
0.00001
|
NM_030973.4(MED25):c.23C>T (p.Pro8Leu)
|
rs980805046
|
0.00001
|
NM_030973.4(MED25):c.292C>T (p.Leu98Phe)
|
rs753652217
|
0.00001
|
NM_030973.4(MED25):c.295G>A (p.Asp99Asn)
|
rs778775959
|
0.00001
|
NM_030973.4(MED25):c.29G>T (p.Arg10Leu)
|
rs545524810
|
0.00001
|
NM_030973.4(MED25):c.316G>A (p.Gly106Arg)
|
rs535472885
|
0.00001
|
NM_030973.4(MED25):c.344C>T (p.Ala115Val)
|
rs764375282
|
0.00001
|
NM_030973.4(MED25):c.407G>A (p.Gly136Asp)
|
rs1391030807
|
0.00001
|
NM_030973.4(MED25):c.413C>T (p.Thr138Met)
|
rs200785685
|
0.00001
|
NM_030973.4(MED25):c.502A>T (p.Asn168Tyr)
|
rs1189793403
|
0.00001
|
NM_030973.4(MED25):c.508G>A (p.Val170Met)
|
rs561534872
|
0.00001
|
NM_030973.4(MED25):c.525+6G>A
|
rs1012023208
|
0.00001
|
NM_030973.4(MED25):c.556C>T (p.Arg186Trp)
|
rs776291104
|
0.00001
|
NM_030973.4(MED25):c.574C>T (p.Arg192Trp)
|
rs201157765
|
0.00001
|
NM_030973.4(MED25):c.617C>T (p.Pro206Leu)
|
rs368059409
|
0.00001
|
NM_030973.4(MED25):c.688+20C>T
|
rs763013887
|
0.00001
|
NM_030973.4(MED25):c.751G>A (p.Ala251Thr)
|
rs775622130
|
0.00001
|
NM_030973.4(MED25):c.911C>T (p.Ser304Leu)
|
rs546822136
|
0.00001
|
NM_030973.4(MED25):c.931C>G (p.Gln311Glu)
|
rs2074049438
|
0.00001
|
NM_170707.4(LMNA):c.1016C>A (p.Ala339Glu)
|
rs756538414
|
0.00001
|
NM_170707.4(LMNA):c.1027C>T (p.Arg343Trp)
|
rs749784223
|
0.00001
|
NM_170707.4(LMNA):c.1044G>T (p.Met348Ile)
|
rs587777892
|
0.00001
|
NM_170707.4(LMNA):c.1171C>G (p.Pro391Ala)
|
rs1436409162
|
0.00001
|
NM_170707.4(LMNA):c.1184C>T (p.Ser395Leu)
|
rs267607561
|
0.00001
|
NM_170707.4(LMNA):c.1186C>A (p.Gln396Lys)
|
rs1651605822
|
0.00001
|
NM_170707.4(LMNA):c.1195C>T (p.Arg399Cys)
|
rs58672172
|
0.00001
|
NM_170707.4(LMNA):c.11C>T (p.Pro4Leu)
|
rs267607620
|
0.00001
|
NM_170707.4(LMNA):c.1210T>A (p.Ser404Thr)
|
rs1466205936
|
0.00001
|
NM_170707.4(LMNA):c.1231G>T (p.Gly411Cys)
|
rs727504852
|
0.00001
|
NM_170707.4(LMNA):c.1234G>C (p.Gly412Arg)
|
rs966050612
|
0.00001
|
NM_170707.4(LMNA):c.1262T>C (p.Leu421Pro)
|
rs267607564
|
0.00001
|
NM_170707.4(LMNA):c.1270A>G (p.Thr424Ala)
|
rs1166140426
|
0.00001
|
NM_170707.4(LMNA):c.1280G>A (p.Arg427His)
|
rs747139279
|
0.00001
|
NM_170707.4(LMNA):c.1282A>G (p.Ser428Gly)
|
rs1651628416
|
0.00001
|
NM_170707.4(LMNA):c.1284C>G (p.Ser428Arg)
|
rs368831495
|
0.00001
|
NM_170707.4(LMNA):c.1300G>A (p.Ala434Thr)
|
rs748433620
|
0.00001
|
NM_170707.4(LMNA):c.1306A>G (p.Thr436Ala)
|
rs876657849
|
0.00001
|
NM_170707.4(LMNA):c.1363C>T (p.Arg455Cys)
|
rs397517892
|
0.00001
|
NM_170707.4(LMNA):c.1364G>A (p.Arg455His)
|
rs267607597
|
0.00001
|
NM_170707.4(LMNA):c.1381G>T (p.Asp461Tyr)
|
rs267607642
|
0.00001
|
NM_170707.4(LMNA):c.1397A>G (p.Asn466Ser)
|
rs1159123077
|
0.00001
|
NM_170707.4(LMNA):c.1480G>T (p.Val494Leu)
|
rs760277884
|
0.00001
|
NM_170707.4(LMNA):c.1487C>T (p.Thr496Met)
|
rs200466188
|
0.00001
|
NM_170707.4(LMNA):c.1592T>A (p.Ile531Asn)
|
rs1464388906
|
0.00001
|
NM_170707.4(LMNA):c.1601C>G (p.Thr534Ser)
|
rs144740174
|
0.00001
|
NM_170707.4(LMNA):c.1604G>A (p.Gly535Glu)
|
rs747717293
|
0.00001
|
NM_170707.4(LMNA):c.1608A>G (p.Glu536=)
|
rs1651737692
|
0.00001
|
NM_170707.4(LMNA):c.1633C>T (p.Arg545Cys)
|
rs267607613
|
0.00001
|
NM_170707.4(LMNA):c.1645G>A (p.Val549Met)
|
rs781774834
|
0.00001
|
NM_170707.4(LMNA):c.1660G>A (p.Glu554Lys)
|
rs71630616
|
0.00001
|
NM_170707.4(LMNA):c.1729G>A (p.Ala577Thr)
|
rs1439261714
|
0.00001
|
NM_170707.4(LMNA):c.1750C>T (p.Arg584Cys)
|
rs578193315
|
0.00001
|
NM_170707.4(LMNA):c.1765G>A (p.Gly589Arg)
|
rs372201662
|
0.00001
|
NM_170707.4(LMNA):c.1774G>A (p.Gly592Arg)
|
rs786205448
|
0.00001
|
NM_170707.4(LMNA):c.1814C>T (p.Ala605Val)
|
rs1651866275
|
0.00001
|
NM_170707.4(LMNA):c.1822G>T (p.Gly608Cys)
|
rs61064130
|
0.00001
|
NM_170707.4(LMNA):c.1825G>A (p.Gly609Arg)
|
rs397517898
|
0.00001
|
NM_170707.4(LMNA):c.1870C>T (p.Arg624Cys)
|
rs140455668
|
0.00001
|
NM_170707.4(LMNA):c.1871G>A (p.Arg624His)
|
rs13768
|
0.00001
|
NM_170707.4(LMNA):c.1880G>A (p.Arg627His)
|
rs745997478
|
0.00001
|
NM_170707.4(LMNA):c.1891G>A (p.Gly631Ser)
|
rs951584348
|
0.00001
|
NM_170707.4(LMNA):c.1892G>A (p.Gly631Asp)
|
rs267607648
|
0.00001
|
NM_170707.4(LMNA):c.191C>A (p.Thr64Asn)
|
rs753191587
|
0.00001
|
NM_170707.4(LMNA):c.1961G>A (p.Arg654Gln)
|
rs768986279
|
0.00001
|
NM_170707.4(LMNA):c.20G>A (p.Arg7Gln)
|
rs751916168
|
0.00001
|
NM_170707.4(LMNA):c.23G>A (p.Arg8His)
|
rs1329278578
|
0.00001
|
NM_170707.4(LMNA):c.293A>G (p.Glu98Gly)
|
rs1441670218
|
0.00001
|
NM_170707.4(LMNA):c.328C>A (p.Arg110Ser)
|
rs1064797121
|
0.00001
|
NM_170707.4(LMNA):c.439G>A (p.Ala147Thr)
|
rs139875047
|
0.00001
|
NM_170707.4(LMNA):c.466C>T (p.Arg156Cys)
|
rs760743233
|
0.00001
|
NM_170707.4(LMNA):c.480C>T (p.Gly160=)
|
rs758848135
|
0.00001
|
NM_170707.4(LMNA):c.565C>T (p.Arg189Trp)
|
rs267607626
|
0.00001
|
NM_170707.4(LMNA):c.598A>G (p.Met200Val)
|
rs777419380
|
0.00001
|
NM_170707.4(LMNA):c.659G>A (p.Arg220His)
|
rs780066296
|
0.00001
|
NM_170707.4(LMNA):c.65C>T (p.Ser22Leu)
|
rs1016767319
|
0.00001
|
NM_170707.4(LMNA):c.662G>A (p.Arg221His)
|
rs372567202
|
0.00001
|
NM_170707.4(LMNA):c.704G>A (p.Arg235His)
|
rs759829161
|
0.00001
|
NM_170707.4(LMNA):c.718C>T (p.Arg240Trp)
|
rs775964460
|
0.00001
|
NM_170707.4(LMNA):c.71C>T (p.Thr24Ile)
|
rs1195524446
|
0.00001
|
NM_170707.4(LMNA):c.749C>T (p.Ala250Val)
|
rs397517907
|
0.00001
|
NM_170707.4(LMNA):c.7A>G (p.Thr3Ala)
|
rs1183004393
|
0.00001
|
NM_170707.4(LMNA):c.835G>A (p.Glu279Lys)
|
rs1651446094
|
0.00001
|
NM_170707.4(LMNA):c.952G>A (p.Ala318Thr)
|
rs267607574
|
0.00001
|
NM_170707.4(LMNA):c.953C>T (p.Ala318Val)
|
rs1212920276
|
0.00001
|
NM_170707.4(LMNA):c.985C>G (p.Arg329Gly)
|
rs775159300
|
0.00001
|
NM_170707.4(LMNA):c.997A>G (p.Thr333Ala)
|
rs1308777587
|
0.00001
|
NM_170707.4(LMNA):c.998C>T (p.Thr333Ile)
|
rs763069566
|
0.00001
|
NM_181882.3(PRX):c.1006G>T (p.Asp336Tyr)
|
rs1299537537
|
0.00001
|
NM_181882.3(PRX):c.1019C>T (p.Pro340Leu)
|
rs780373582
|
0.00001
|
NM_181882.3(PRX):c.1255A>T (p.Thr419Ser)
|
rs766358380
|
0.00001
|
NM_181882.3(PRX):c.1286T>C (p.Val429Ala)
|
rs776312092
|
0.00001
|
NM_181882.3(PRX):c.1300G>C (p.Val434Leu)
|
rs746471273
|
0.00001
|
NM_181882.3(PRX):c.1315G>A (p.Gly439Arg)
|
rs756439826
|
0.00001
|
NM_181882.3(PRX):c.134G>A (p.Arg45Gln)
|
rs751441856
|
0.00001
|
NM_181882.3(PRX):c.138G>C (p.Glu46Asp)
|
rs1477884504
|
0.00001
|
NM_181882.3(PRX):c.13A>G (p.Ser5Gly)
|
rs767350599
|
0.00001
|
NM_181882.3(PRX):c.1468C>T (p.Arg490Trp)
|
rs760423138
|
0.00001
|
NM_181882.3(PRX):c.148G>T (p.Asp50Tyr)
|
rs528136982
|
0.00001
|
NM_181882.3(PRX):c.1490C>T (p.Pro497Leu)
|
rs1167411868
|
0.00001
|
NM_181882.3(PRX):c.1529T>C (p.Met510Thr)
|
rs780375180
|
0.00001
|
NM_181882.3(PRX):c.1538C>T (p.Pro513Leu)
|
rs148742209
|
0.00001
|
NM_181882.3(PRX):c.15C>G (p.Ser5Arg)
|
rs1408677034
|
0.00001
|
NM_181882.3(PRX):c.1616C>T (p.Pro539Leu)
|
rs762424034
|
0.00001
|
NM_181882.3(PRX):c.1777A>G (p.Met593Val)
|
rs1389523539
|
0.00001
|
NM_181882.3(PRX):c.1790A>G (p.Glu597Gly)
|
rs746698242
|
0.00001
|
NM_181882.3(PRX):c.1797A>T (p.Lys599Asn)
|
rs757931043
|
0.00001
|
NM_181882.3(PRX):c.17G>A (p.Arg6Gln)
|
rs774078598
|
0.00001
|
NM_181882.3(PRX):c.1834G>A (p.Ala612Thr)
|
rs2079438994
|
0.00001
|
NM_181882.3(PRX):c.1919A>G (p.Lys640Arg)
|
rs781739632
|
0.00001
|
NM_181882.3(PRX):c.1925C>T (p.Pro642Leu)
|
rs751935470
|
0.00001
|
NM_181882.3(PRX):c.1993A>G (p.Met665Val)
|
rs747528144
|
0.00001
|
NM_181882.3(PRX):c.2018T>C (p.Met673Thr)
|
rs760571664
|
0.00001
|
NM_181882.3(PRX):c.2173C>T (p.Pro725Ser)
|
rs1387072587
|
0.00001
|
NM_181882.3(PRX):c.2188C>T (p.Pro730Ser)
|
rs2079433440
|
0.00001
|
NM_181882.3(PRX):c.2209G>A (p.Val737Met)
|
rs1237761863
|
0.00001
|
NM_181882.3(PRX):c.2221C>T (p.His741Tyr)
|
rs1599653314
|
0.00001
|
NM_181882.3(PRX):c.2245A>C (p.Lys749Gln)
|
rs755014286
|
0.00001
|
NM_181882.3(PRX):c.2252C>T (p.Ser751Leu)
|
rs570569581
|
0.00001
|
NM_181882.3(PRX):c.2267C>T (p.Pro756Leu)
|
rs749585237
|
0.00001
|
NM_181882.3(PRX):c.2274G>T (p.Met758Ile)
|
rs770109023
|
0.00001
|
NM_181882.3(PRX):c.2335G>A (p.Ala779Thr)
|
rs369505684
|
0.00001
|
NM_181882.3(PRX):c.2339C>T (p.Pro780Leu)
|
rs371562775
|
0.00001
|
NM_181882.3(PRX):c.2345T>G (p.Val782Gly)
|
rs747153697
|
0.00001
|
NM_181882.3(PRX):c.2353A>G (p.Lys785Glu)
|
rs780270731
|
0.00001
|
NM_181882.3(PRX):c.2432G>T (p.Arg811Met)
|
rs2079430119
|
0.00001
|
NM_181882.3(PRX):c.2558C>T (p.Thr853Ile)
|
rs2079428604
|
0.00001
|
NM_181882.3(PRX):c.256T>C (p.Cys86Arg)
|
rs765676916
|
0.00001
|
NM_181882.3(PRX):c.2582T>C (p.Leu861Pro)
|
rs1192034174
|
0.00001
|
NM_181882.3(PRX):c.2591C>G (p.Ala864Gly)
|
rs777582529
|
0.00001
|
NM_181882.3(PRX):c.25G>A (p.Glu9Lys)
|
rs1020492565
|
0.00001
|
NM_181882.3(PRX):c.2642G>A (p.Arg881Gln)
|
rs570264094
|
0.00001
|
NM_181882.3(PRX):c.2657A>T (p.Glu886Val)
|
rs1212378012
|
0.00001
|
NM_181882.3(PRX):c.27+5G>C
|
rs371520525
|
0.00001
|
NM_181882.3(PRX):c.2804A>C (p.Lys935Thr)
|
rs1179595016
|
0.00001
|
NM_181882.3(PRX):c.2851G>T (p.Ala951Ser)
|
rs748622767
|
0.00001
|
NM_181882.3(PRX):c.2860G>T (p.Ala954Ser)
|
rs747471167
|
0.00001
|
NM_181882.3(PRX):c.2T>C (p.Met1Thr)
|
rs1352237419
|
0.00001
|
NM_181882.3(PRX):c.3050A>G (p.Lys1017Arg)
|
rs538922683
|
0.00001
|
NM_181882.3(PRX):c.3052G>A (p.Gly1018Arg)
|
rs772827175
|
0.00001
|
NM_181882.3(PRX):c.307G>A (p.Gly103Arg)
|
rs754510516
|
0.00001
|
NM_181882.3(PRX):c.3094G>A (p.Asp1032Asn)
|
rs772431799
|
0.00001
|
NM_181882.3(PRX):c.3109G>A (p.Glu1037Lys)
|
rs571311308
|
0.00001
|
NM_181882.3(PRX):c.3281T>G (p.Leu1094Arg)
|
rs1270740440
|
0.00001
|
NM_181882.3(PRX):c.3292G>A (p.Glu1098Lys)
|
rs565167885
|
0.00001
|
NM_181882.3(PRX):c.335T>C (p.Val112Ala)
|
rs760944190
|
0.00001
|
NM_181882.3(PRX):c.3376C>A (p.Leu1126Met)
|
rs1483705612
|
0.00001
|
NM_181882.3(PRX):c.3392C>A (p.Ala1131Asp)
|
rs750801377
|
0.00001
|
NM_181882.3(PRX):c.3416A>G (p.His1139Arg)
|
rs1268527552
|
0.00001
|
NM_181882.3(PRX):c.3419A>T (p.Asp1140Val)
|
rs923473427
|
0.00001
|
NM_181882.3(PRX):c.346G>A (p.Glu116Lys)
|
rs770713710
|
0.00001
|
NM_181882.3(PRX):c.3562C>A (p.Pro1188Thr)
|
rs878855284
|
0.00001
|
NM_181882.3(PRX):c.3583C>T (p.Pro1195Ser)
|
rs1555800544
|
0.00001
|
NM_181882.3(PRX):c.358C>A (p.Pro120Thr)
|
rs762808329
|
0.00001
|
NM_181882.3(PRX):c.3622G>A (p.Glu1208Lys)
|
rs767504243
|
0.00001
|
NM_181882.3(PRX):c.3624G>C (p.Glu1208Asp)
|
rs1030878933
|
0.00001
|
NM_181882.3(PRX):c.3640C>T (p.Pro1214Ser)
|
rs1303392170
|
0.00001
|
NM_181882.3(PRX):c.3674T>C (p.Val1225Ala)
|
rs1329396084
|
0.00001
|
NM_181882.3(PRX):c.3703G>A (p.Glu1235Lys)
|
rs1385904344
|
0.00001
|
NM_181882.3(PRX):c.3722G>C (p.Gly1241Ala)
|
rs139120811
|
0.00001
|
NM_181882.3(PRX):c.3805G>A (p.Glu1269Lys)
|
rs916285011
|
0.00001
|
NM_181882.3(PRX):c.381+6C>T
|
rs778983888
|
0.00001
|
NM_181882.3(PRX):c.3835G>T (p.Val1279Leu)
|
rs747247972
|
0.00001
|
NM_181882.3(PRX):c.3841C>T (p.Leu1281Phe)
|
rs2079410935
|
0.00001
|
NM_181882.3(PRX):c.3901G>A (p.Gly1301Arg)
|
rs749251511
|
0.00001
|
NM_181882.3(PRX):c.3928C>T (p.Arg1310Trp)
|
rs751126995
|
0.00001
|
NM_181882.3(PRX):c.392G>A (p.Ser131Asn)
|
rs781394276
|
0.00001
|
NM_181882.3(PRX):c.4090G>A (p.Gly1364Arg)
|
rs1481896317
|
0.00001
|
NM_181882.3(PRX):c.4103C>T (p.Ser1368Leu)
|
rs768636520
|
0.00001
|
NM_181882.3(PRX):c.4109G>A (p.Arg1370His)
|
rs756687548
|
0.00001
|
NM_181882.3(PRX):c.4115G>T (p.Gly1372Val)
|
rs751906783
|
0.00001
|
NM_181882.3(PRX):c.4165G>A (p.Ala1389Thr)
|
rs752060706
|
0.00001
|
NM_181882.3(PRX):c.4180G>A (p.Glu1394Lys)
|
rs1486029743
|
0.00001
|
NM_181882.3(PRX):c.4232G>T (p.Arg1411Leu)
|
rs1005254872
|
0.00001
|
NM_181882.3(PRX):c.4335_4336del (p.Ala1447fs)
|
rs778270475
|
0.00001
|
NM_181882.3(PRX):c.485A>C (p.Lys162Thr)
|
rs879254072
|
0.00001
|
NM_181882.3(PRX):c.494G>A (p.Arg165His)
|
rs780278195
|
0.00001
|
NM_181882.3(PRX):c.503G>A (p.Arg168Gln)
|
rs763833871
|
0.00001
|
NM_181882.3(PRX):c.557G>A (p.Arg186Gln)
|
rs569213133
|
0.00001
|
NM_181882.3(PRX):c.575G>A (p.Arg192Gln)
|
rs944160754
|
0.00001
|
NM_181882.3(PRX):c.598G>A (p.Glu200Lys)
|
rs767207935
|
0.00001
|
NM_181882.3(PRX):c.59T>C (p.Ile20Thr)
|
rs767446213
|
0.00001
|
NM_181882.3(PRX):c.628G>A (p.Ala210Thr)
|
rs775981300
|
0.00001
|
NM_181882.3(PRX):c.62T>C (p.Val21Ala)
|
rs1167676481
|
0.00001
|
NM_181882.3(PRX):c.673G>T (p.Ala225Ser)
|
rs754734195
|
0.00001
|
NM_181882.3(PRX):c.707T>C (p.Leu236Pro)
|
rs876661240
|
0.00001
|
NM_181882.3(PRX):c.815C>T (p.Thr272Ile)
|
rs747384252
|
0.00001
|
NM_181882.3(PRX):c.820G>C (p.Gly274Arg)
|
rs750022799
|
0.00001
|
NM_181882.3(PRX):c.82G>A (p.Gly28Arg)
|
rs2079513379
|
0.00001
|
NM_181882.3(PRX):c.830C>T (p.Ala277Val)
|
rs1393962979
|
0.00001
|
NM_181882.3(PRX):c.901C>T (p.Pro301Ser)
|
rs1453242996
|
0.00001
|
NM_181882.3(PRX):c.959C>T (p.Ser320Leu)
|
rs760647416
|
0.00001
|
NM_181882.3(PRX):c.994A>G (p.Thr332Ala)
|
rs143710873
|
0.00001
|
NC_000001.10:g.(?_10394568)_(10566215_?)del
|
|
|
NC_000001.10:g.(?_10428505)_(10428616_?)dup
|
|
|
NC_000001.10:g.(?_11906066)_(12066770_?)dup
|
|
|
NC_000001.10:g.(?_12008023)_(12059162_?)dup
|
|
|
NC_000001.10:g.(?_12030707)_(12071622_?)dup
|
|
|
NC_000001.10:g.(?_12064039)_(12069793_?)dup
|
|
|
NC_000001.10:g.(?_12069639)_(12069793_?)del
|
|
|
NC_000001.10:g.(?_12071543)_(12071632_?)dup
|
|
|
NC_000001.10:g.(?_154141761)_(156851434_?)dup
|
|
|
NC_000001.10:g.(?_155870169)_(156108907_?)dup
|
|
|
NC_000001.10:g.(?_156083461)_(156110880_?)dup
|
|
|
NC_000001.10:g.(?_156084690)_(156109650_?)dup
|
|
|
NC_000001.10:g.(?_156084707)_(156108897_?)dup
|
|
|
NC_000001.10:g.(?_156084710)_(156085085_?)dup
|
|
|
NC_000001.10:g.(?_156084710)_(156108897_?)dup
|
|
|
NC_000001.10:g.(?_156108851)_(156108897_?)del
|
|
|
NC_000001.10:g.(?_33241563)_(46663513_?)dup
|
|
|
NC_000001.10:g.(?_33246629)_(33248160_?)del
|
|
|
NC_000001.10:g.(?_33247985)_(33248160_?)del
|
|
|
NC_000001.10:g.(?_33251953)_(33252686_?)del
|
|
|
NC_000001.10:g.(?_33256743)_(33272232_?)del
|
|
|
NC_000001.10:g.(?_33276172)_(33276678_?)del
|
|
|
NC_000001.10:g.(?_33276172)_(33282845_?)dup
|
|
|
NC_000001.10:g.(?_6527623)_(6537631_?)dup
|
|
|
NC_000001.10:g.(?_9304994)_(12569078_?)dup
|
|
|
NC_000001.11:g.(?_10232329)_(10371272_?)dup
|
|
|
NC_000001.11:g.(?_32775971)_(32797853_?)dup
|
|
|
NC_000001.11:g.(?_32810581)_(32811067_?)del
|
|
|
NC_000001.11:g.(?_32810591)_(32811057_?)del
|
|
|
NC_000003.11:g.(?_128514201)_(128631967_?)dup
|
|
|
NC_000003.11:g.(?_179118981)_(179144008_?)dup
|
|
|
NC_000003.11:g.(?_179119001)_(179138735_?)dup
|
|
|
NC_000003.11:g.(?_179119001)_(179143988_?)dup
|
|
|
NC_000003.12:g.(?_179401203)_(179426210_?)dup
|
|
|
NC_000004.12:g.(?_153204511)_(153276150_?)del
|
|
|
NC_000005.9:g.(?_148384274)_(148442585_?)dup
|
|
|
NC_000006.11:g.(?_109690054)_(110266416_?)dup
|
|
|
NC_000006.11:g.(?_109765394)_(110064995_?)dup
|
|
|
NC_000006.11:g.(?_110012639)_(110098283_?)dup
|
|
|
NC_000006.11:g.(?_110106153)_(110113887_?)del
|
|
|
NC_000006.11:g.(?_110106153)_(110146468_?)dup
|
|
|
NC_000006.11:g.(?_110117948)_(110118074_?)dup
|
|
|
NC_000006.12:g.(?_109825078)_(109825275_?)del
|
|
|
NC_000007.13:g.(?_30642630)_(30649366_?)del
|
|
|
NC_000007.13:g.(?_30655492)_(31018859_?)dup
|
|
|
NC_000007.13:g.(?_75931813)_(75933510_?)dup
|
|
|
NC_000007.13:g.(?_75932030)_(75933490_?)del
|
|
|
NC_000007.13:g.(?_75932030)_(75933490_?)dup
|
|
|
NC_000007.13:g.(?_75932366)_(75934037_?)del
|
|
|
NC_000007.14:g.(?_30598776)_(30598917_?)del
|
|
|
NC_000007.14:g.(?_30615886)_(30633870_?)dup
|
|
|
NC_000007.14:g.(?_76301442)_(76304183_?)dup
|
|
|
NC_000008.10:g.(?_133141489)_(134296574_?)dup
|
|
|
NC_000008.10:g.(?_134251111)_(134296564_?)dup
|
|
|
NC_000008.10:g.(?_134251121)_(134296554_?)dup
|
|
|
NC_000008.10:g.(?_134266772)_(134276905_?)del
|
|
|
NC_000008.10:g.(?_134274280)_(134296564_?)dup
|
|
|
NC_000008.10:g.(?_24810303)_(24814049_?)dup
|
|
|
NC_000008.10:g.(?_24810313)_(24811829_?)del
|
|
|
NC_000008.10:g.(?_24810313)_(24814039_?)dup
|
|
|
NC_000008.10:g.(?_24810323)_(24811839_?)del
|
|
|
NC_000008.10:g.(?_74888497)_(75274233_?)dup
|
|
|
NC_000008.10:g.(?_74888517)_(75276602_?)dup
|
|
|
NC_000008.11:g.(?_133236171)_(133298304_?)dup
|
|
|
NC_000008.11:g.(?_73976132)_(74367120_?)dup
|
|
|
NC_000008.11:g.(?_74349383)_(74368110_?)dup
|
|
|
NC_000009.11:g.(?_130216797)_(130224662_?)dup
|
|
|
NC_000009.11:g.(?_130216807)_(130265178_?)dup
|
|
|
NC_000009.11:g.(?_130221262)_(130224672_?)del
|
|
|
NC_000009.12:g.(?_127454518)_(127502909_?)dup
|
|
|
NC_000009.12:g.(?_127461163)_(127473941_?)del
|
|
|
NC_000009.12:g.(?_127502774)_(127503501_?)del
|
|
|
NC_000011.10:g.(?_10028442)_(10193997_?)del
|
|
|
NC_000011.10:g.(?_10294005)_(10294079_?)dup
|
|
|
NC_000011.10:g.(?_68908125)_(68908651_?)del
|
|
|
NC_000011.10:g.(?_9807990)_(9858406_?)del
|
|
|
NC_000011.9:g.(?_62457819)_(62462203_?)dup
|
|
|
NC_000011.9:g.(?_62457839)_(62462203_?)dup
|
|
|
NC_000011.9:g.(?_95568444)_(95568625_?)dup
|
|
|
NC_000011.9:g.(?_95568454)_(95657118_?)dup
|
|
|
NC_000011.9:g.(?_95574771)_(95598850_?)dup
|
|
|
NC_000011.9:g.(?_9801955)_(10064538_?)dup
|
|
|
NC_000012.11:g.(?_110221426)_(110224662_?)dup
|
|
|
NC_000012.11:g.(?_110252196)_(110252601_?)del
|
|
|
NC_000012.11:g.(?_119617118)_(119624913_?)dup
|
|
|
NC_000012.11:g.(?_119624810)_(119624913_?)del
|
|
|
NC_000012.11:g.(?_119631484)_(119631663_?)dup
|
|
|
NC_000012.11:g.(?_119631494)_(119631673_?)dup
|
|
|
NC_000012.11:g.(?_32729292)_(32793467_?)dup
|
|
|
NC_000012.11:g.(?_32786463)_(32793467_?)dup
|
|
|
NC_000012.11:g.(?_32786463)_(32832419_?)dup
|
|
|
NC_000012.11:g.(?_57883659)_(57884447_?)del
|
|
|
NC_000012.11:g.(?_57891920)_(57898102_?)dup
|
|
|
NC_000012.11:g.(?_57894084)_(57894325_?)del
|
|
|
NC_000012.11:g.(?_57906514)_(57976962_?)dup
|
|
|
NC_000012.12:g.(?_32598477)_(32598606_?)del
|
|
|
NC_000012.12:g.(?_32633539)_(32640543_?)dup
|
|
|
NC_000014.8:g.(?_102228231)_(105861009_?)dup
|
|
|
NC_000014.8:g.(?_102442029)_(105861009_?)del
|
|
|
NC_000014.8:g.(?_102460501)_(102516900_?)del
|
|
|
NC_000014.8:g.(?_102463352)_(102469322_?)del
|
|
|
NC_000014.8:g.(?_102492901)_(102516910_?)dup
|
|
|
NC_000014.8:g.(?_105167683)_(105185180_?)dup
|
|
|
NC_000014.8:g.(?_105167703)_(105213340_?)dup
|
|
|
NC_000014.8:g.(?_105167703)_(105861009_?)del
|
|
|
NC_000014.8:g.(?_105172352)_(105181676_?)dup
|
|
|
NC_000014.8:g.(?_105176405)_(105185180_?)dup
|
|
|
NC_000014.9:g.(?_101925141)_(101964947_?)del
|
|
|
NC_000014.9:g.(?_102026564)_(102050573_?)dup
|
|
|
NC_000014.9:g.(?_104701356)_(104703963_?)del
|
|
|
NC_000016.10:g.(?_11549637)_(11556730_?)dup
|
|
|
NC_000016.10:g.(?_70264948)_(70282773_?)del
|
|
|
NC_000016.10:g.(?_70267649)_(70268389_?)del
|
|
|
NC_000016.10:g.(?_70267649)_(70271982_?)del
|
|
|
NC_000016.9:g.(?_11643473)_(11650606_?)dup
|
|
|
NC_000016.9:g.(?_11643493)_(11650586_?)del
|
|
|
NC_000016.9:g.(?_11647369)_(11647565_?)dup
|
|
|
NC_000016.9:g.(?_11650347)_(11650606_?)del
|
|
|
NC_000016.9:g.(?_70286604)_(70296447_?)dup
|
|
|
NC_000016.9:g.(?_70286614)_(70296437_?)dup
|
|
|
NC_000016.9:g.(?_70286614)_(70669268_?)dup
|
|
|
NC_000016.9:g.(?_70286624)_(70293109_?)del
|
|
|
NC_000016.9:g.(?_70286624)_(70296447_?)dup
|
|
|
NC_000016.9:g.(?_70286624)_(70305895_?)del
|
|
|
NC_000016.9:g.(?_70301542)_(70305895_?)del
|
|
|
NC_000016.9:g.(?_70310369)_(70311077_?)del
|
|
|
NC_000016.9:g.(?_70310369)_(70316686_?)dup
|
|
|
NC_000016.9:g.(?_70310389)_(70316666_?)dup
|
|
|
NC_000016.9:g.(?_8829597)_(11650586_?)dup
|
|
|
NC_000017.10:g.(?_40688291)_(40690793_?)dup
|
|
|
NC_000017.10:g.(?_40688291)_(40729741_?)dup
|
|
|
NC_000019.10:g.(?_10718233)_(10759821_?)dup
|
|
|
NC_000019.10:g.(?_10718233)_(10786716_?)dup
|
|
|
NC_000019.10:g.(?_10819960)_(10823919_?)dup
|
|
|
NC_000019.10:g.(?_10819970)_(10823909_?)dup
|
|
|
NC_000019.10:g.(?_10819970)_(10831057_?)dup
|
|
|
NC_000019.10:g.(?_49828429)_(49829110_?)del
|
|
|
NC_000019.9:g.(?_10828899)_(10897402_?)dup
|
|
|
NC_000019.9:g.(?_10828909)_(10829089_?)dup
|
|
|
NC_000019.9:g.(?_10828919)_(10829099_?)dup
|
|
|
NC_000019.9:g.(?_10828919)_(13482613_?)dup
|
|
|
NC_000019.9:g.(?_10870394)_(10870507_?)del
|
|
|
NC_000019.9:g.(?_10939692)_(10941723_?)dup
|
|
|
NC_000019.9:g.(?_10940783)_(10941723_?)dup
|
|
|
NC_000019.9:g.(?_40899863)_(40913849_?)dup
|
|
|
NC_000019.9:g.(?_40899873)_(40904743_?)dup
|
|
|
NC_000023.10:g.(?_24483553)_(24557301_?)dup
|
|
|
NC_000023.10:g.(?_24483563)_(24557291_?)dup
|
|
|
NC_000023.10:g.(?_24483573)_(24483698_?)del
|
|
|
NC_000023.10:g.(?_24483573)_(24557281_?)del
|
|
|
NC_000023.10:g.(?_24512849)_(24537137_?)dup
|
|
|
NC_000023.10:g.(?_24544295)_(24557281_?)dup
|
|
|
NC_000023.10:g.(?_24549754)_(24549907_?)del
|
|
|
NC_000023.11:g.(?_24465436)_(24465581_?)del
|
|
|
NC_000023.11:g.(?_24494722)_(24539184_?)del
|
|
|
NM_000263.4(NAGLU):c.1016C>T (p.Thr339Ile)
|
|
|
NM_000263.4(NAGLU):c.1041G>T (p.Trp347Cys)
|
|
|
NM_000263.4(NAGLU):c.1052G>C (p.Gly351Ala)
|
|
|
NM_000263.4(NAGLU):c.1057C>G (p.Leu353Val)
|
|
|
NM_000263.4(NAGLU):c.1072C>T (p.Pro358Ser)
|
|
|
NM_000263.4(NAGLU):c.1090G>A (p.Ala364Thr)
|
|
|
NM_000263.4(NAGLU):c.1090G>T (p.Ala364Ser)
|
rs1459252305
|
|
NM_000263.4(NAGLU):c.1106T>C (p.Val369Ala)
|
rs2143107785
|
|
NM_000263.4(NAGLU):c.1112G>A (p.Gly371Glu)
|
|
|
NM_000263.4(NAGLU):c.1123C>T (p.Arg375Cys)
|
|
|
NM_000263.4(NAGLU):c.1132C>T (p.Leu378Phe)
|
rs2143107974
|
|
NM_000263.4(NAGLU):c.1141C>G (p.Leu381Val)
|
|
|
NM_000263.4(NAGLU):c.1142T>C (p.Leu381Pro)
|
rs2143108019
|
|
NM_000263.4(NAGLU):c.1177C>T (p.Arg393Cys)
|
|
|
NM_000263.4(NAGLU):c.1178G>C (p.Arg393Pro)
|
|
|
NM_000263.4(NAGLU):c.1184C>G (p.Ala395Gly)
|
rs1599260536
|
|
NM_000263.4(NAGLU):c.1189T>G (p.Phe397Val)
|
|
|
NM_000263.4(NAGLU):c.1199A>C (p.Gln400Pro)
|
|
|
NM_000263.4(NAGLU):c.119T>G (p.Leu40Arg)
|
|
|
NM_000263.4(NAGLU):c.1212G>C (p.Trp404Cys)
|
rs777670507
|
|
NM_000263.4(NAGLU):c.1229T>A (p.Phe410Tyr)
|
|
|
NM_000263.4(NAGLU):c.1229T>C (p.Phe410Ser)
|
rs574688121
|
|
NM_000263.4(NAGLU):c.1264G>A (p.Ala422Thr)
|
|
|
NM_000263.4(NAGLU):c.1272C>A (p.Asn424Lys)
|
|
|
NM_000263.4(NAGLU):c.1273G>A (p.Gly425Arg)
|
|
|
NM_000263.4(NAGLU):c.1288G>T (p.Ala430Ser)
|
|
|
NM_000263.4(NAGLU):c.1291C>T (p.Arg431Cys)
|
|
|
NM_000263.4(NAGLU):c.1304A>C (p.Asn435Thr)
|
rs764815033
|
|
NM_000263.4(NAGLU):c.1304A>G (p.Asn435Ser)
|
rs764815033
|
|
NM_000263.4(NAGLU):c.1305C>G (p.Asn435Lys)
|
|
|
NM_000263.4(NAGLU):c.1318G>C (p.Gly440Arg)
|
rs2143109259
|
|
NM_000263.4(NAGLU):c.1328T>C (p.Met443Thr)
|
|
|
NM_000263.4(NAGLU):c.1329G>A (p.Met443Ile)
|
rs1370763282
|
|
NM_000263.4(NAGLU):c.1348C>G (p.Gln450Glu)
|
|
|
NM_000263.4(NAGLU):c.1391G>A (p.Arg464Gln)
|
|
|
NM_000263.4(NAGLU):c.1391G>C (p.Arg464Pro)
|
|
|
NM_000263.4(NAGLU):c.1405C>G (p.Pro469Ala)
|
rs894998392
|
|
NM_000263.4(NAGLU):c.1409A>T (p.Asp470Val)
|
|
|
NM_000263.4(NAGLU):c.1439C>T (p.Ala480Val)
|
|
|
NM_000263.4(NAGLU):c.1453G>C (p.Val485Leu)
|
rs1332288767
|
|
NM_000263.4(NAGLU):c.145_147del (p.Ser49del)
|
rs2092906185
|
|
NM_000263.4(NAGLU):c.1461C>A (p.His487Gln)
|
rs965655357
|
|
NM_000263.4(NAGLU):c.146C>T (p.Ser49Phe)
|
|
|
NM_000263.4(NAGLU):c.1472G>A (p.Gly491Glu)
|
|
|
NM_000263.4(NAGLU):c.1477G>A (p.Ala493Thr)
|
|
|
NM_000263.4(NAGLU):c.1484G>A (p.Arg495Lys)
|
|
|
NM_000263.4(NAGLU):c.1484G>T (p.Arg495Met)
|
|
|
NM_000263.4(NAGLU):c.1485G>T (p.Arg495Ser)
|
rs2143110806
|
|
NM_000263.4(NAGLU):c.148G>C (p.Val50Leu)
|
|
|
NM_000263.4(NAGLU):c.1490T>C (p.Leu497Pro)
|
rs2092927686
|
|
NM_000263.4(NAGLU):c.1496G>A (p.Arg499Gln)
|
|
|
NM_000263.4(NAGLU):c.1508A>G (p.Asn503Ser)
|
|
|
NM_000263.4(NAGLU):c.1509C>A (p.Asn503Lys)
|
rs781603010
|
|
NM_000263.4(NAGLU):c.1522G>T (p.Ala508Ser)
|
|
|
NM_000263.4(NAGLU):c.1531G>A (p.Gly511Ser)
|
rs770129454
|
|
NM_000263.4(NAGLU):c.1538A>G (p.Asn513Ser)
|
|
|
NM_000263.4(NAGLU):c.1540C>T (p.Arg514Cys)
|
|
|
NM_000263.4(NAGLU):c.1541G>A (p.Arg514His)
|
|
|
NM_000263.4(NAGLU):c.1543A>G (p.Ser515Gly)
|
|
|
NM_000263.4(NAGLU):c.1556G>A (p.Arg519Lys)
|
|
|
NM_000263.4(NAGLU):c.1585A>G (p.Ile529Val)
|
|
|
NM_000263.4(NAGLU):c.1598G>A (p.Arg533Gln)
|
|
|
NM_000263.4(NAGLU):c.1601C>T (p.Ser534Phe)
|
rs2092928280
|
|
NM_000263.4(NAGLU):c.1612G>C (p.Glu538Gln)
|
|
|
NM_000263.4(NAGLU):c.1622G>A (p.Arg541Gln)
|
|
|
NM_000263.4(NAGLU):c.1639G>A (p.Ala547Thr)
|
|
|
NM_000263.4(NAGLU):c.163G>A (p.Ala55Thr)
|
|
|
NM_000263.4(NAGLU):c.1650G>A (p.Leu550=)
|
|
|
NM_000263.4(NAGLU):c.1655C>T (p.Thr552Ile)
|
|
|
NM_000263.4(NAGLU):c.1663G>A (p.Ala555Thr)
|
|
|
NM_000263.4(NAGLU):c.1664C>T (p.Ala555Val)
|
|
|
NM_000263.4(NAGLU):c.1670G>A (p.Arg557His)
|
|
|
NM_000263.4(NAGLU):c.1699G>T (p.Ala567Ser)
|
rs2092928703
|
|
NM_000263.4(NAGLU):c.1710G>T (p.Glu570Asp)
|
rs2092928775
|
|
NM_000263.4(NAGLU):c.1717A>G (p.Ser573Gly)
|
|
|
NM_000263.4(NAGLU):c.172G>A (p.Ala58Thr)
|
|
|
NM_000263.4(NAGLU):c.172G>C (p.Ala58Pro)
|
|
|
NM_000263.4(NAGLU):c.1735G>A (p.Ala579Thr)
|
|
|
NM_000263.4(NAGLU):c.1737AAG[1] (p.Arg580del)
|
|
|
NM_000263.4(NAGLU):c.1744G>A (p.Ala582Thr)
|
rs144238669
|
|
NM_000263.4(NAGLU):c.176A>T (p.Lys59Met)
|
rs1217324478
|
|
NM_000263.4(NAGLU):c.1778G>A (p.Arg593Lys)
|
rs1274337932
|
|
NM_000263.4(NAGLU):c.1789G>A (p.Val597Ile)
|
rs759978970
|
|
NM_000263.4(NAGLU):c.1789G>C (p.Val597Leu)
|
rs759978970
|
|
NM_000263.4(NAGLU):c.1804C>A (p.Leu602Met)
|
|
|
NM_000263.4(NAGLU):c.1822G>C (p.Glu608Gln)
|
|
|
NM_000263.4(NAGLU):c.1825G>A (p.Val609Met)
|
|
|
NM_000263.4(NAGLU):c.1828C>A (p.Leu610Met)
|
|
|
NM_000263.4(NAGLU):c.1853T>C (p.Leu618Pro)
|
rs2143114107
|
|
NM_000263.4(NAGLU):c.1864C>G (p.Leu622Val)
|
|
|
NM_000263.4(NAGLU):c.1879G>A (p.Ala627Thr)
|
|
|
NM_000263.4(NAGLU):c.1883C>T (p.Ala628Val)
|
|
|
NM_000263.4(NAGLU):c.1888G>A (p.Val630Ile)
|
|
|
NM_000263.4(NAGLU):c.1888G>T (p.Val630Phe)
|
rs764322586
|
|
NM_000263.4(NAGLU):c.1889T>G (p.Val630Gly)
|
|
|
NM_000263.4(NAGLU):c.1903G>A (p.Ala635Thr)
|
|
|
NM_000263.4(NAGLU):c.1909T>C (p.Phe637Leu)
|
|
|
NM_000263.4(NAGLU):c.190A>G (p.Thr64Ala)
|
|
|
NM_000263.4(NAGLU):c.1911C>G (p.Phe637Leu)
|
|
|
NM_000263.4(NAGLU):c.1913A>G (p.Tyr638Cys)
|
rs2143114630
|
|
NM_000263.4(NAGLU):c.1915G>A (p.Glu639Lys)
|
|
|
NM_000263.4(NAGLU):c.1915G>C (p.Glu639Gln)
|
|
|
NM_000263.4(NAGLU):c.1921A>T (p.Asn641Tyr)
|
|
|
NM_000263.4(NAGLU):c.1923C>G (p.Asn641Lys)
|
|
|
NM_000263.4(NAGLU):c.1930T>G (p.Tyr644Asp)
|
rs2143114887
|
|
NM_000263.4(NAGLU):c.193T>C (p.Tyr65His)
|
rs2143076321
|
|
NM_000263.4(NAGLU):c.1940C>T (p.Thr647Ile)
|
|
|
NM_000263.4(NAGLU):c.1967T>C (p.Leu656Pro)
|
rs2092930000
|
|
NM_000263.4(NAGLU):c.197G>A (p.Ser66Asn)
|
|
|
NM_000263.4(NAGLU):c.200T>G (p.Leu67Arg)
|
|
|
NM_000263.4(NAGLU):c.2015C>T (p.Thr672Ile)
|
rs1358789110
|
|
NM_000263.4(NAGLU):c.2027G>T (p.Arg676Leu)
|
rs1341421909
|
|
NM_000263.4(NAGLU):c.202G>A (p.Gly68Ser)
|
|
|
NM_000263.4(NAGLU):c.202_203insCCG (p.Leu67_Gly68insAla)
|
rs1469781984
|
|
NM_000263.4(NAGLU):c.2032T>C (p.Phe678Leu)
|
rs2143115795
|
|
NM_000263.4(NAGLU):c.203GCG[5] (p.Gly71dup)
|
rs1186888836
|
|
NM_000263.4(NAGLU):c.203GCG[6] (p.Gly70_Gly71dup)
|
rs1186888836
|
|
NM_000263.4(NAGLU):c.2042C>G (p.Ala681Gly)
|
|
|
NM_000263.4(NAGLU):c.2053A>C (p.Ser685Arg)
|
|
|
NM_000263.4(NAGLU):c.2054G>C (p.Ser685Thr)
|
|
|
NM_000263.4(NAGLU):c.2059G>A (p.Ala687Thr)
|
|
|
NM_000263.4(NAGLU):c.2068A>G (p.Ile690Val)
|
|
|
NM_000263.4(NAGLU):c.2068A>T (p.Ile690Phe)
|
rs143906118
|
|
NM_000263.4(NAGLU):c.2076C>G (p.Phe692Leu)
|
rs2092930476
|
|
NM_000263.4(NAGLU):c.2085C>G (p.His695Gln)
|
rs1038367205
|
|
NM_000263.4(NAGLU):c.2092G>A (p.Asp698Asn)
|
rs897126193
|
|
NM_000263.4(NAGLU):c.2099A>G (p.Asn700Ser)
|
|
|
NM_000263.4(NAGLU):c.20_31dup (p.Ala7_Val10dup)
|
rs1555621404
|
|
NM_000263.4(NAGLU):c.2124C>G (p.Phe708Leu)
|
rs139195906
|
|
NM_000263.4(NAGLU):c.2125G>A (p.Val709Ile)
|
|
|
NM_000263.4(NAGLU):c.2131A>G (p.Ser711Gly)
|
rs1482294617
|
|
NM_000263.4(NAGLU):c.2137dup (p.Gln713fs)
|
|
|
NM_000263.4(NAGLU):c.2139G>C (p.Gln713His)
|
|
|
NM_000263.4(NAGLU):c.214G>C (p.Ala72Pro)
|
rs2143076526
|
|
NM_000263.4(NAGLU):c.2158C>T (p.Arg720Ter)
|
rs1555622589
|
|
NM_000263.4(NAGLU):c.217G>A (p.Ala73Thr)
|
|
|
NM_000263.4(NAGLU):c.2183AGA[1] (p.Lys729del)
|
rs1216052074
|
|
NM_000263.4(NAGLU):c.2191T>C (p.Phe731Leu)
|
rs760180817
|
|
NM_000263.4(NAGLU):c.2201A>G (p.Tyr734Cys)
|
rs2143116999
|
|
NM_000263.4(NAGLU):c.2201_2204dup (p.Tyr735Ter)
|
rs2092930997
|
|
NM_000263.4(NAGLU):c.2205C>A (p.Tyr735Ter)
|
|
|
NM_000263.4(NAGLU):c.2207C>T (p.Pro736Leu)
|
|
|
NM_000263.4(NAGLU):c.2209C>T (p.Arg737Cys)
|
rs86312
|
|
NM_000263.4(NAGLU):c.2210G>A (p.Arg737His)
|
|
|
NM_000263.4(NAGLU):c.2215G>A (p.Val739Met)
|
|
|
NM_000263.4(NAGLU):c.2218G>A (p.Ala740Thr)
|
|
|
NM_000263.4(NAGLU):c.2229G>A (p.Trp743Ter)
|
rs749371796
|
|
NM_000263.4(NAGLU):c.222C>G (p.Arg74=)
|
rs2143076606
|
|
NM_000263.4(NAGLU):c.2232A>G (p.Ter744Trp)
|
rs1555622606
|
|
NM_000263.4(NAGLU):c.223G>A (p.Val75Met)
|
|
|
NM_000263.4(NAGLU):c.223G>C (p.Val75Leu)
|
rs1460838744
|
|
NM_000263.4(NAGLU):c.239C>T (p.Ser80Phe)
|
rs2092906616
|
|
NM_000263.4(NAGLU):c.241A>G (p.Thr81Ala)
|
rs2092906625
|
|
NM_000263.4(NAGLU):c.242C>T (p.Thr81Met)
|
|
|
NM_000263.4(NAGLU):c.259G>T (p.Ala87Ser)
|
|
|
NM_000263.4(NAGLU):c.26C>G (p.Ala9Gly)
|
rs1176961335
|
|
NM_000263.4(NAGLU):c.26C>T (p.Ala9Val)
|
|
|
NM_000263.4(NAGLU):c.277C>A (p.Leu93Met)
|
rs1285791183
|
|
NM_000263.4(NAGLU):c.278T>C (p.Leu93Pro)
|
|
|
NM_000263.4(NAGLU):c.28G>A (p.Val10Met)
|
rs1248922504
|
|
NM_000263.4(NAGLU):c.28G>C (p.Val10Leu)
|
|
|
NM_000263.4(NAGLU):c.304G>A (p.Ala102Thr)
|
|
|
NM_000263.4(NAGLU):c.311C>A (p.Ser104Tyr)
|
rs2143077245
|
|
NM_000263.4(NAGLU):c.313G>A (p.Gly105Ser)
|
rs1181544224
|
|
NM_000263.4(NAGLU):c.314G>C (p.Gly105Ala)
|
|
|
NM_000263.4(NAGLU):c.317C>T (p.Ser106Phe)
|
|
|
NM_000263.4(NAGLU):c.31G>C (p.Gly11Arg)
|
|
|
NM_000263.4(NAGLU):c.326G>A (p.Arg109His)
|
rs1224387286
|
|
NM_000263.4(NAGLU):c.326G>T (p.Arg109Leu)
|
|
|
NM_000263.4(NAGLU):c.32G>T (p.Gly11Val)
|
rs1217361905
|
|
NM_000263.4(NAGLU):c.332C>T (p.Pro111Leu)
|
rs1567890347
|
|
NM_000263.4(NAGLU):c.348C>A (p.Ala116=)
|
|
|
NM_000263.4(NAGLU):c.349G>C (p.Val117Leu)
|
|
|
NM_000263.4(NAGLU):c.359A>G (p.Glu120Gly)
|
|
|
NM_000263.4(NAGLU):c.362T>C (p.Leu121Pro)
|
|
|
NM_000263.4(NAGLU):c.377C>T (p.Pro126Leu)
|
|
|
NM_000263.4(NAGLU):c.379A>C (p.Asn127His)
|
rs2143077833
|
|
NM_000263.4(NAGLU):c.37C>T (p.Leu13Phe)
|
|
|
NM_000263.4(NAGLU):c.380A>G (p.Asn127Ser)
|
|
|
NM_000263.4(NAGLU):c.383+3A>G
|
|
|
NM_000263.4(NAGLU):c.383+5C>A
|
rs762932040
|
|
NM_000263.4(NAGLU):c.383+5C>T
|
|
|
NM_000263.4(NAGLU):c.383+6G>T
|
|
|
NM_000263.4(NAGLU):c.384-3C>A
|
rs1216280532
|
|
NM_000263.4(NAGLU):c.392A>G (p.Tyr131Cys)
|
rs762337946
|
|
NM_000263.4(NAGLU):c.40C>A (p.Leu14Ile)
|
|
|
NM_000263.4(NAGLU):c.410C>T (p.Thr137Met)
|
|
|
NM_000263.4(NAGLU):c.423_425del (p.Phe142del)
|
rs1555621579
|
|
NM_000263.4(NAGLU):c.437A>T (p.Asp146Val)
|
rs2143082071
|
|
NM_000263.4(NAGLU):c.446G>C (p.Arg149Pro)
|
|
|
NM_000263.4(NAGLU):c.446G>T (p.Arg149Leu)
|
|
|
NM_000263.4(NAGLU):c.453G>T (p.Glu151Asp)
|
|
|
NM_000263.4(NAGLU):c.455G>T (p.Arg152Leu)
|
rs141018386
|
|
NM_000263.4(NAGLU):c.472G>T (p.Ala158Ser)
|
|
|
NM_000263.4(NAGLU):c.474_475delinsAA (p.Leu159Met)
|
rs2143082294
|
|
NM_000263.4(NAGLU):c.502T>C (p.Trp168Arg)
|
rs2092910000
|
|
NM_000263.4(NAGLU):c.503G>C (p.Trp168Ser)
|
rs398123281
|
|
NM_000263.4(NAGLU):c.526C>A (p.Gln176Lys)
|
|
|
NM_000263.4(NAGLU):c.527A>G (p.Gln176Arg)
|
|
|
NM_000263.4(NAGLU):c.541G>T (p.Ala181Ser)
|
|
|
NM_000263.4(NAGLU):c.546G>C (p.Leu182Phe)
|
|
|
NM_000263.4(NAGLU):c.547G>C (p.Gly183Arg)
|
rs1056643237
|
|
NM_000263.4(NAGLU):c.56G>A (p.Gly19Glu)
|
|
|
NM_000263.4(NAGLU):c.5A>G (p.Glu2Gly)
|
|
|
NM_000263.4(NAGLU):c.610A>G (p.Met204Val)
|
rs2143086735
|
|
NM_000263.4(NAGLU):c.612G>T (p.Met204Ile)
|
|
|
NM_000263.4(NAGLU):c.614G>C (p.Gly205Ala)
|
|
|
NM_000263.4(NAGLU):c.617A>G (p.Asn206Ser)
|
rs1291552393
|
|
NM_000263.4(NAGLU):c.619C>G (p.Leu207Val)
|
|
|
NM_000263.4(NAGLU):c.626C>T (p.Thr209Ile)
|
rs2143086833
|
|
NM_000263.4(NAGLU):c.643C>T (p.Pro215Ser)
|
|
|
NM_000263.4(NAGLU):c.647C>A (p.Pro216His)
|
|
|
NM_000263.4(NAGLU):c.683G>C (p.Arg228Pro)
|
rs146456266
|
|
NM_000263.4(NAGLU):c.689_694del (p.Leu230_Asp231del)
|
rs2143087937
|
|
NM_000263.4(NAGLU):c.703T>C (p.Ser235Pro)
|
rs2143088010
|
|
NM_000263.4(NAGLU):c.707T>C (p.Phe236Ser)
|
|
|
NM_000263.4(NAGLU):c.718C>T (p.Pro240Ser)
|
|
|
NM_000263.4(NAGLU):c.719C>T (p.Pro240Leu)
|
|
|
NM_000263.4(NAGLU):c.721G>T (p.Val241Leu)
|
|
|
NM_000263.4(NAGLU):c.725T>C (p.Leu242Pro)
|
|
|
NM_000263.4(NAGLU):c.733T>C (p.Phe245Leu)
|
|
|
NM_000263.4(NAGLU):c.737C>A (p.Ala246Glu)
|
|
|
NM_000263.4(NAGLU):c.73G>A (p.Glu25Lys)
|
|
|
NM_000263.4(NAGLU):c.745G>A (p.Val249Ile)
|
rs2092914005
|
|
NM_000263.4(NAGLU):c.74A>G (p.Glu25Gly)
|
|
|
NM_000263.4(NAGLU):c.761C>T (p.Thr254Ile)
|
|
|
NM_000263.4(NAGLU):c.763A>C (p.Arg255=)
|
|
|
NM_000263.4(NAGLU):c.763A>T (p.Arg255Trp)
|
|
|
NM_000263.4(NAGLU):c.764+5G>A
|
|
|
NM_000263.4(NAGLU):c.764G>C (p.Arg255Thr)
|
rs2143088503
|
|
NM_000263.4(NAGLU):c.772C>T (p.Pro258Ser)
|
|
|
NM_000263.4(NAGLU):c.77C>A (p.Ala26Asp)
|
rs988433554
|
|
NM_000263.4(NAGLU):c.77C>T (p.Ala26Val)
|
rs988433554
|
|
NM_000263.4(NAGLU):c.782A>G (p.Asn261Ser)
|
|
|
NM_000263.4(NAGLU):c.787A>G (p.Thr263Ala)
|
rs2143097981
|
|
NM_000263.4(NAGLU):c.7G>T (p.Ala3Ser)
|
rs968875282
|
|
NM_000263.4(NAGLU):c.80_82dup (p.Arg27_Glu28insGly)
|
|
|
NM_000263.4(NAGLU):c.818G>A (p.Cys273Tyr)
|
|
|
NM_000263.4(NAGLU):c.824A>G (p.Tyr275Cys)
|
rs1025860195
|
|
NM_000263.4(NAGLU):c.82_114del (p.Glu28_Arg38del)
|
rs2092905949
|
|
NM_000263.4(NAGLU):c.830_832del (p.Cys277del)
|
rs398123282
|
|
NM_000263.4(NAGLU):c.849G>A (p.Pro283=)
|
|
|
NM_000263.4(NAGLU):c.854A>T (p.Asp285Val)
|
|
|
NM_000263.4(NAGLU):c.857C>T (p.Pro286Leu)
|
|
|
NM_000263.4(NAGLU):c.859A>G (p.Ile287Val)
|
rs2143098654
|
|
NM_000263.4(NAGLU):c.878G>A (p.Ser293Asn)
|
|
|
NM_000263.4(NAGLU):c.884T>G (p.Phe295Cys)
|
|
|
NM_000263.4(NAGLU):c.886C>A (p.Leu296Met)
|
|
|
NM_000263.4(NAGLU):c.899T>C (p.Ile300Thr)
|
|
|
NM_000263.4(NAGLU):c.8C>T (p.Ala3Val)
|
rs2092905628
|
|
NM_000263.4(NAGLU):c.92C>G (p.Ala31Gly)
|
|
|
NM_000263.4(NAGLU):c.946G>A (p.Glu316Lys)
|
rs2143099484
|
|
NM_000263.4(NAGLU):c.949A>G (p.Met317Val)
|
|
|
NM_000263.4(NAGLU):c.951G>A (p.Met317Ile)
|
|
|
NM_000263.4(NAGLU):c.951G>C (p.Met317Ile)
|
|
|
NM_000263.4(NAGLU):c.959C>T (p.Pro320Leu)
|
|
|
NM_000263.4(NAGLU):c.962C>T (p.Ser321Phe)
|
|
|
NM_000263.4(NAGLU):c.971C>T (p.Pro324Leu)
|
|
|
NM_000263.4(NAGLU):c.979C>T (p.Leu327Phe)
|
|
|
NM_000263.4(NAGLU):c.985G>A (p.Ala329Thr)
|
|
|
NM_000263.4(NAGLU):c.994A>G (p.Thr332Ala)
|
|
|
NM_001005361.3(DNM2):c.-23_12del (p.Met1fs)
|
|
|
NM_001005361.3(DNM2):c.1010G>T (p.Gly337Val)
|
rs767838513
|
|
NM_001005361.3(DNM2):c.1012G>A (p.Val338Met)
|
rs753224039
|
|
NM_001005361.3(DNM2):c.1016A>G (p.Asp339Gly)
|
rs1568304280
|
|
NM_001005361.3(DNM2):c.102C>G (p.Ile34Met)
|
rs552741402
|
|
NM_001005361.3(DNM2):c.1033G>A (p.Glu345Lys)
|
|
|
NM_001005361.3(DNM2):c.1040C>T (p.Ser347Leu)
|
rs2071834284
|
|
NM_001005361.3(DNM2):c.1048C>G (p.Gln350Glu)
|
rs2071834543
|
|
NM_001005361.3(DNM2):c.1051G>A (p.Val351Met)
|
rs876661176
|
|
NM_001005361.3(DNM2):c.1058C>A (p.Thr353Asn)
|
|
|
NM_001005361.3(DNM2):c.1078G>A (p.Ala360Thr)
|
|
|
NM_001005361.3(DNM2):c.1088A>G (p.Asn363Ser)
|
rs2146014211
|
|
NM_001005361.3(DNM2):c.1090C>G (p.Arg364Gly)
|
rs1568304333
|
|
NM_001005361.3(DNM2):c.1091G>A (p.Arg364His)
|
rs2071835414
|
|
NM_001005361.3(DNM2):c.1091G>T (p.Arg364Leu)
|
|
|
NM_001005361.3(DNM2):c.1093A>G (p.Ile365Val)
|
|
|
NM_001005361.3(DNM2):c.109G>T (p.Val37Leu)
|
|
|
NM_001005361.3(DNM2):c.1124T>C (p.Val375Ala)
|
rs587783594
|
|
NM_001005361.3(DNM2):c.1134G>C (p.Glu378Asp)
|
rs1223342362
|
|
NM_001005361.3(DNM2):c.1141G>A (p.Glu381Lys)
|
rs2071896749
|
|
NM_001005361.3(DNM2):c.1147G>T (p.Asp383Tyr)
|
rs1568305190
|
|
NM_001005361.3(DNM2):c.1156C>T (p.Arg386Trp)
|
|
|
NM_001005361.3(DNM2):c.1161G>T (p.Glu387Asp)
|
rs2071897159
|
|
NM_001005361.3(DNM2):c.1178A>C (p.Lys393Thr)
|
rs2071897365
|
|
NM_001005361.3(DNM2):c.1187A>G (p.His396Arg)
|
|
|
NM_001005361.3(DNM2):c.1196+4A>G
|
|
|
NM_001005361.3(DNM2):c.1196+613C>G
|
|
|
NM_001005361.3(DNM2):c.1196+619C>T
|
rs748695148
|
|
NM_001005361.3(DNM2):c.1196+660T>C
|
rs2146025971
|
|
NM_001005361.3(DNM2):c.1196+680A>G
|
rs2071923540
|
|
NM_001005361.3(DNM2):c.1196+681A>C
|
rs931176769
|
|
NM_001005361.3(DNM2):c.1196+681A>G
|
rs931176769
|
|
NM_001005361.3(DNM2):c.1196+686A>G
|
|
|
NM_001005361.3(DNM2):c.1196+701A>T
|
|
|
NM_001005361.3(DNM2):c.1196+704T>C
|
rs1409309807
|
|
NM_001005361.3(DNM2):c.1196+707G>C
|
rs2071924630
|
|
NM_001005361.3(DNM2):c.1196+708T>C
|
|
|
NM_001005361.3(DNM2):c.1196+715G>A
|
rs1338938129
|
|
NM_001005361.3(DNM2):c.1196+723A>G
|
|
|
NM_001005361.3(DNM2):c.1196+729T>G
|
rs1555710681
|
|
NM_001005361.3(DNM2):c.1196+740G>T
|
rs2146026442
|
|
NM_001005361.3(DNM2):c.1196+745G>T
|
|
|
NM_001005361.3(DNM2):c.1196+761G>A
|
rs1431565635
|
|
NM_001005361.3(DNM2):c.126C>A (p.Ala42=)
|
|
|
NM_001005361.3(DNM2):c.1336-3C>A
|
rs2146038756
|
|
NM_001005361.3(DNM2):c.1336-5C>G
|
|
|
NM_001005361.3(DNM2):c.1343C>A (p.Ser448Tyr)
|
rs2072020474
|
|
NM_001005361.3(DNM2):c.1352G>T (p.Arg451Leu)
|
rs749154067
|
|
NM_001005361.3(DNM2):c.1354T>G (p.Leu452Val)
|
rs770599060
|
|
NM_001005361.3(DNM2):c.1356G>T (p.Leu452Phe)
|
|
|
NM_001005361.3(DNM2):c.1370A>G (p.Glu457Gly)
|
rs1555711301
|
|
NM_001005361.3(DNM2):c.1385C>T (p.Thr462Ile)
|
|
|
NM_001005361.3(DNM2):c.1388A>G (p.Tyr463Cys)
|
|
|
NM_001005361.3(DNM2):c.1400G>T (p.Arg467Leu)
|
|
|
NM_001005361.3(DNM2):c.1422+6G>A
|
rs2146039132
|
|
NM_001005361.3(DNM2):c.1423-1G>T
|
rs2072180672
|
|
NM_001005361.3(DNM2):c.1426C>A (p.Leu476Ile)
|
rs1568309121
|
|
NM_001005361.3(DNM2):c.1438G>A (p.Asp480Asn)
|
rs764027808
|
|
NM_001005361.3(DNM2):c.1438G>C (p.Asp480His)
|
|
|
NM_001005361.3(DNM2):c.1442T>C (p.Ile481Thr)
|
|
|
NM_001005361.3(DNM2):c.1451C>G (p.Ser484Cys)
|
rs2146061357
|
|
NM_001005361.3(DNM2):c.1463C>T (p.Thr488Met)
|
rs746903992
|
|
NM_001005361.3(DNM2):c.1480A>G (p.Ile494Val)
|
rs2146061452
|
|
NM_001005361.3(DNM2):c.1483G>A (p.Gly495Arg)
|
|
|
NM_001005361.3(DNM2):c.1493+5G>A
|
rs2072182574
|
|
NM_001005361.3(DNM2):c.1493A>C (p.Asn498Thr)
|
|
|
NM_001005361.3(DNM2):c.1514del (p.Gln505fs)
|
rs2146080349
|
|
NM_001005361.3(DNM2):c.1521C>A (p.Asn507Lys)
|
|
|
NM_001005361.3(DNM2):c.1523A>G (p.Lys508Arg)
|
|
|
NM_001005361.3(DNM2):c.1523AGA[1] (p.Lys509del)
|
rs752875857
|
|
NM_001005361.3(DNM2):c.1524G>C (p.Lys508Asn)
|
|
|
NM_001005361.3(DNM2):c.1526A>G (p.Lys509Arg)
|
rs1555712608
|
|
NM_001005361.3(DNM2):c.1552A>G (p.Ile518Val)
|
rs753402698
|
|
NM_001005361.3(DNM2):c.1558G>C (p.Val520Leu)
|
rs2072577212
|
|
NM_001005361.3(DNM2):c.1570G>C (p.Gly524Arg)
|
|
|
NM_001005361.3(DNM2):c.1586ACA[1] (p.Asn530del)
|
rs1342132509
|
|
NM_001005361.3(DNM2):c.1594A>G (p.Ser532Gly)
|
rs368752035
|
|
NM_001005361.3(DNM2):c.1601T>G (p.Met534Arg)
|
|
|
NM_001005361.3(DNM2):c.1606G>A (p.Gly536Ser)
|
rs2072578382
|
|
NM_001005361.3(DNM2):c.160C>G (p.Arg54Gly)
|
rs1295054396
|
|
NM_001005361.3(DNM2):c.161+3G>A
|
rs1555696272
|
|
NM_001005361.3(DNM2):c.1616A>T (p.Lys539Met)
|
rs1568314284
|
|
NM_001005361.3(DNM2):c.162G>A (p.Arg54=)
|
|
|
NM_001005361.3(DNM2):c.162G>C (p.Arg54=)
|
rs762111033
|
|
NM_001005361.3(DNM2):c.1663G>A (p.Asp555Asn)
|
|
|
NM_001005361.3(DNM2):c.1664_1671+1del
|
rs1568314339
|
|
NM_001005361.3(DNM2):c.1671+3G>A
|
|
|
NM_001005361.3(DNM2):c.1671+3G>C
|
rs942932745
|
|
NM_001005361.3(DNM2):c.1696C>A (p.Pro566Thr)
|
|
|
NM_001005361.3(DNM2):c.1697C>T (p.Pro566Leu)
|
|
|
NM_001005361.3(DNM2):c.16A>G (p.Met6Val)
|
|
|
NM_001005361.3(DNM2):c.1705A>C (p.Asn569His)
|
|
|
NM_001005361.3(DNM2):c.1708C>T (p.Leu570Phe)
|
rs2072921679
|
|
NM_001005361.3(DNM2):c.170_192del (p.Leu57fs)
|
rs2145855560
|
|
NM_001005361.3(DNM2):c.1712A>G (p.Lys571Arg)
|
|
|
NM_001005361.3(DNM2):c.1713G>T (p.Lys571Asn)
|
|
|
NM_001005361.3(DNM2):c.1717C>T (p.Arg573Cys)
|
|
|
NM_001005361.3(DNM2):c.1718G>A (p.Arg573His)
|
rs1555715216
|
|
NM_001005361.3(DNM2):c.1721A>C (p.Asp574Ala)
|
rs1300578677
|
|
NM_001005361.3(DNM2):c.1723G>A (p.Val575Met)
|
|
|
NM_001005361.3(DNM2):c.1726G>A (p.Glu576Lys)
|
|
|
NM_001005361.3(DNM2):c.1731G>C (p.Lys577Asn)
|
rs35365412
|
|
NM_001005361.3(DNM2):c.1732G>A (p.Gly578Ser)
|
|
|
NM_001005361.3(DNM2):c.1735_1737dup (p.Phe579dup)
|
rs2072922521
|
|
NM_001005361.3(DNM2):c.1747A>G (p.Lys583Glu)
|
rs1568318798
|
|
NM_001005361.3(DNM2):c.1753G>A (p.Val585Ile)
|
rs762777422
|
|
NM_001005361.3(DNM2):c.175C>T (p.Arg59Cys)
|
|
|
NM_001005361.3(DNM2):c.1781+6G>C
|
|
|
NM_001005361.3(DNM2):c.1781+6G>T
|
rs1568318838
|
|
NM_001005361.3(DNM2):c.1801C>T (p.Arg601Trp)
|
|
|
NM_001005361.3(DNM2):c.1806G>C (p.Gln602His)
|
rs2073058875
|
|
NM_001005361.3(DNM2):c.1809C>G (p.Ile603Met)
|
rs780409124
|
|
NM_001005361.3(DNM2):c.1816G>T (p.Ala606Ser)
|
rs2146181196
|
|
NM_001005361.3(DNM2):c.1847G>A (p.Trp616Ter)
|
|
|
NM_001005361.3(DNM2):c.1852G>T (p.Ala618Ser)
|
rs773598203
|
|
NM_001005361.3(DNM2):c.1871G>T (p.Gly624Val)
|
|
|
NM_001005361.3(DNM2):c.187A>G (p.Ile63Val)
|
|
|
NM_001005361.3(DNM2):c.1882G>A (p.Glu628Lys)
|
rs775361247
|
|
NM_001005361.3(DNM2):c.1893+1G>A
|
rs2073061878
|
|
NM_001005361.3(DNM2):c.1903G>A (p.Glu635Lys)
|
rs761198315
|
|
NM_001005361.3(DNM2):c.1906G>A (p.Asp636Asn)
|
|
|
NM_001005361.3(DNM2):c.1938C>A (p.Asp646Glu)
|
|
|
NM_001005361.3(DNM2):c.1952G>A (p.Arg651Gln)
|
rs1568321851
|
|
NM_001005361.3(DNM2):c.1966A>T (p.Ile656Phe)
|
rs776410455
|
|
NM_001005361.3(DNM2):c.1967T>C (p.Ile656Thr)
|
|
|
NM_001005361.3(DNM2):c.196C>T (p.Arg66Trp)
|
|
|
NM_001005361.3(DNM2):c.1970G>A (p.Arg657His)
|
rs2146188021
|
|
NM_001005361.3(DNM2):c.1998C>G (p.Ile666Met)
|
rs2073100886
|
|
NM_001005361.3(DNM2):c.19G>C (p.Glu7Gln)
|
rs1008731390
|
|
NM_001005361.3(DNM2):c.200G>A (p.Arg67Gln)
|
rs752080566
|
|
NM_001005361.3(DNM2):c.2011A>G (p.Ile671Val)
|
rs1568321953
|
|
NM_001005361.3(DNM2):c.2014C>T (p.Arg672Cys)
|
|
|
NM_001005361.3(DNM2):c.2023A>G (p.Met675Val)
|
rs1555716140
|
|
NM_001005361.3(DNM2):c.2041C>A (p.His681Asn)
|
rs1437296623
|
|
NM_001005361.3(DNM2):c.2047A>G (p.Met683Val)
|
|
|
NM_001005361.3(DNM2):c.2057A>G (p.Asn686Ser)
|
rs2073102227
|
|
NM_001005361.3(DNM2):c.2058+3G>A
|
rs747966753
|
|
NM_001005361.3(DNM2):c.2058T>G (p.Asn686Lys)
|
rs1368089327
|
|
NM_001005361.3(DNM2):c.205C>T (p.Leu69Phe)
|
rs2145855703
|
|
NM_001005361.3(DNM2):c.2060C>T (p.Thr687Met)
|
|
|
NM_001005361.3(DNM2):c.208A>G (p.Ile70Val)
|
|
|
NM_001005361.3(DNM2):c.2100CTC[1] (p.Ser702del)
|
rs1324559612
|
|
NM_001005361.3(DNM2):c.2102C>T (p.Ser701Phe)
|
|
|
NM_001005361.3(DNM2):c.2110G>A (p.Asp704Asn)
|
|
|
NM_001005361.3(DNM2):c.2116A>T (p.Ser706Cys)
|
rs2146205490
|
|
NM_001005361.3(DNM2):c.2144A>G (p.Gln715Arg)
|
rs374041367
|
|
NM_001005361.3(DNM2):c.2144A>T (p.Gln715Leu)
|
|
|
NM_001005361.3(DNM2):c.2146G>C (p.Ala716Pro)
|
|
|
NM_001005361.3(DNM2):c.2147C>T (p.Ala716Val)
|
|
|
NM_001005361.3(DNM2):c.2156G>A (p.Arg719Gln)
|
|
|
NM_001005361.3(DNM2):c.2159del (p.Asp720fs)
|
|
|
NM_001005361.3(DNM2):c.2161G>A (p.Asp721Asn)
|
rs1012446714
|
|
NM_001005361.3(DNM2):c.2168T>A (p.Leu723Gln)
|
|
|
NM_001005361.3(DNM2):c.2170C>T (p.Arg724Cys)
|
|
|
NM_001005361.3(DNM2):c.2171G>A (p.Arg724His)
|
rs1160341992
|
|
NM_001005361.3(DNM2):c.2174T>C (p.Met725Thr)
|
|
|
NM_001005361.3(DNM2):c.2180A>G (p.His727Arg)
|
|
|
NM_001005361.3(DNM2):c.2185C>G (p.Leu729Val)
|
|
|
NM_001005361.3(DNM2):c.2197C>T (p.Leu733Phe)
|
rs1568324227
|
|
NM_001005361.3(DNM2):c.2215A>G (p.Ile739Val)
|
rs2073249809
|
|
NM_001005361.3(DNM2):c.2233T>A (p.Ser745Thr)
|
rs1568324267
|
|
NM_001005361.3(DNM2):c.2245C>T (p.Pro749Ser)
|
rs773884005
|
|
NM_001005361.3(DNM2):c.2246C>A (p.Pro749His)
|
rs765111629
|
|
NM_001005361.3(DNM2):c.2248C>A (p.Pro750Thr)
|
rs1173091380
|
|
NM_001005361.3(DNM2):c.2249C>T (p.Pro750Leu)
|
rs375350902
|
|
NM_001005361.3(DNM2):c.2252C>A (p.Pro751His)
|
|
|
NM_001005361.3(DNM2):c.2257G>T (p.Asp753Tyr)
|
rs368325934
|
|
NM_001005361.3(DNM2):c.2264C>A (p.Thr755Asn)
|
rs754691182
|
|
NM_001005361.3(DNM2):c.2274G>T (p.Gln758His)
|
rs2146206095
|
|
NM_001005361.3(DNM2):c.2278G>A (p.Ala760Thr)
|
rs779315825
|
|
NM_001005361.3(DNM2):c.2286C>A (p.Ser762Arg)
|
rs1568324385
|
|
NM_001005361.3(DNM2):c.2292-3C>T
|
|
|
NM_001005361.3(DNM2):c.2292-7C>G
|
rs2073285852
|
|
NM_001005361.3(DNM2):c.2292-8C>A
|
rs757620658
|
|
NM_001005361.3(DNM2):c.2297C>T (p.Thr766Ile)
|
rs2073286326
|
|
NM_001005361.3(DNM2):c.2306G>A (p.Arg769His)
|
|
|
NM_001005361.3(DNM2):c.2308C>T (p.Arg770Ter)
|
rs1599641077
|
|
NM_001005361.3(DNM2):c.2311C>A (p.Pro771Thr)
|
rs1862203120
|
|
NM_001005361.3(DNM2):c.231A>C (p.Lys77Asn)
|
rs2145855757
|
|
NM_001005361.3(DNM2):c.2323A>C (p.Ile775Leu)
|
rs773124483
|
|
NM_001005361.3(DNM2):c.2328C>A (p.His776Gln)
|
rs766387630
|
|
NM_001005361.3(DNM2):c.2332C>A (p.Pro778Thr)
|
rs774220956
|
|
NM_001005361.3(DNM2):c.2335G>A (p.Gly779Ser)
|
|
|
NM_001005361.3(DNM2):c.2338C>T (p.Arg780Trp)
|
rs1221582515
|
|
NM_001005361.3(DNM2):c.235+4A>G
|
|
|
NM_001005361.3(DNM2):c.2356G>T (p.Gly786Cys)
|
rs1555717200
|
|
NM_001005361.3(DNM2):c.2357G>T (p.Gly786Val)
|
|
|
NM_001005361.3(DNM2):c.2359C>G (p.Pro787Ala)
|
rs752357434
|
|
NM_001005361.3(DNM2):c.2372C>A (p.Pro791His)
|
rs780738840
|
|
NM_001005361.3(DNM2):c.2372C>T (p.Pro791Leu)
|
rs780738840
|
|
NM_001005361.3(DNM2):c.2377_2378del (p.Leu793fs)
|
|
|
NM_001005361.3(DNM2):c.2377del (p.Pro792_Leu793insTer)
|
rs764391392
|
|
NM_001005361.3(DNM2):c.2378T>C (p.Leu793Pro)
|
|
|
NM_001005361.3(DNM2):c.2378del (p.Leu793fs)
|
rs2073289875
|
|
NM_001005361.3(DNM2):c.2383C>G (p.Pro795Ala)
|
|
|
NM_001005361.3(DNM2):c.2389C>A (p.Pro797Thr)
|
|
|
NM_001005361.3(DNM2):c.2390C>T (p.Pro797Leu)
|
|
|
NM_001005361.3(DNM2):c.2395G>A (p.Gly799Arg)
|
rs2073290642
|
|
NM_001005361.3(DNM2):c.2399C>T (p.Ala800Val)
|
|
|
NM_001005361.3(DNM2):c.2411_2413del (p.Phe804del)
|
rs752014734
|
|
NM_001005361.3(DNM2):c.2420C>T (p.Pro807Leu)
|
|
|
NM_001005361.3(DNM2):c.2435G>A (p.Arg812Gln)
|
rs1285468865
|
|
NM_001005361.3(DNM2):c.2437C>T (p.Pro813Ser)
|
rs2073292666
|
|
NM_001005361.3(DNM2):c.2443C>T (p.Pro815Ser)
|
rs1438459794
|
|
NM_001005361.3(DNM2):c.244G>A (p.Glu82Lys)
|
|
|
NM_001005361.3(DNM2):c.2451C>G (p.Ser817Arg)
|
rs751961437
|
|
NM_001005361.3(DNM2):c.2462A>G (p.Asn821Ser)
|
|
|
NM_001005361.3(DNM2):c.2465G>A (p.Ser822Asn)
|
rs1301279979
|
|
NM_001005361.3(DNM2):c.2479G>A (p.Ala827Thr)
|
rs1599641452
|
|
NM_001005361.3(DNM2):c.2495C>T (p.Pro832Leu)
|
rs2073294248
|
|
NM_001005361.3(DNM2):c.2513T>G (p.Ile838Ser)
|
|
|
NM_001005361.3(DNM2):c.2526T>G (p.Ile842Met)
|
|
|
NM_001005361.3(DNM2):c.2527C>T (p.Pro843Ser)
|
rs2146210571
|
|
NM_001005361.3(DNM2):c.2531C>T (p.Pro844Leu)
|
rs1398139585
|
|
NM_001005361.3(DNM2):c.2534G>T (p.Gly845Val)
|
|
|
NM_001005361.3(DNM2):c.2543+1G>A
|
rs2146210623
|
|
NM_001005361.3(DNM2):c.2543+5G>C
|
rs2073295708
|
|
NM_001005361.3(DNM2):c.2544-3C>T
|
rs2073330199
|
|
NM_001005361.3(DNM2):c.2555C>G (p.Pro852Arg)
|
|
|
NM_001005361.3(DNM2):c.2555C>T (p.Pro852Leu)
|
|
|
NM_001005361.3(DNM2):c.2561C>T (p.Ala854Val)
|
rs776073354
|
|
NM_001005361.3(DNM2):c.2571_2593del (p.Pro858fs)
|
|
|
NM_001005361.3(DNM2):c.2571_2593dup (p.Glu865fs)
|
rs2146213977
|
|
NM_001005361.3(DNM2):c.2572C>T (p.Pro858Ser)
|
|
|
NM_001005361.3(DNM2):c.2573C>A (p.Pro858His)
|
rs2146214048
|
|
NM_001005361.3(DNM2):c.2573C>T (p.Pro858Leu)
|
rs2146214048
|
|
NM_001005361.3(DNM2):c.2573CCA[1] (p.Thr859del)
|
rs1599643472
|
|
NM_001005361.3(DNM2):c.2576_2581del (p.Thr859_Ile860del)
|
rs876661117
|
|
NM_001005361.3(DNM2):c.2581A>T (p.Ile861Phe)
|
|
|
NM_001005361.3(DNM2):c.2585G>C (p.Arg862Pro)
|
|
|
NM_001005361.3(DNM2):c.2593G>C (p.Glu865Gln)
|
rs746818628
|
|
NM_001005361.3(DNM2):c.2593_2597del (p.Glu865fs)
|
|
|
NM_001005361.3(DNM2):c.2596C>T (p.Pro866Ser)
|
rs1242764198
|
|
NM_001005361.3(DNM2):c.2600C>A (p.Ser867Tyr)
|
|
|
NM_001005361.3(DNM2):c.2603T>C (p.Leu868Pro)
|
|
|
NM_001005361.3(DNM2):c.2606T>C (p.Leu869Pro)
|
rs1703984974
|
|
NM_001005361.3(DNM2):c.296A>G (p.Gln99Arg)
|
|
|
NM_001005361.3(DNM2):c.313A>T (p.Thr105Ser)
|
|
|
NM_001005361.3(DNM2):c.31C>T (p.Pro11Ser)
|
rs1014814501
|
|
NM_001005361.3(DNM2):c.322G>C (p.Val108Leu)
|
|
|
NM_001005361.3(DNM2):c.323T>G (p.Val108Gly)
|
|
|
NM_001005361.3(DNM2):c.331A>G (p.Thr111Ala)
|
rs2145911597
|
|
NM_001005361.3(DNM2):c.331A>T (p.Thr111Ser)
|
rs2145911597
|
|
NM_001005361.3(DNM2):c.345C>G (p.Ile115Met)
|
rs753176358
|
|
NM_001005361.3(DNM2):c.368G>A (p.Arg123Gln)
|
|
|
NM_001005361.3(DNM2):c.376T>G (p.Ser126Ala)
|
rs2071018084
|
|
NM_001005361.3(DNM2):c.37G>A (p.Val13Ile)
|
|
|
NM_001005361.3(DNM2):c.385+12G>A
|
|
|
NM_001005361.3(DNM2):c.385+6C>T
|
rs746068458
|
|
NM_001005361.3(DNM2):c.385G>A (p.Val129Met)
|
|
|
NM_001005361.3(DNM2):c.3G>T (p.Met1Ile)
|
|
|
NM_001005361.3(DNM2):c.41A>G (p.Asn14Ser)
|
rs2145637630
|
|
NM_001005361.3(DNM2):c.427G>C (p.Val143Leu)
|
rs1366173686
|
|
NM_001005361.3(DNM2):c.433G>A (p.Val145Met)
|
|
|
NM_001005361.3(DNM2):c.438C>T (p.Gly146=)
|
|
|
NM_001005361.3(DNM2):c.439G>C (p.Asp147His)
|
rs370086632
|
|
NM_001005361.3(DNM2):c.448C>T (p.Pro150Ser)
|
rs2071133001
|
|
NM_001005361.3(DNM2):c.451G>A (p.Asp151Asn)
|
rs2145924541
|
|
NM_001005361.3(DNM2):c.454A>G (p.Ile152Val)
|
|
|
NM_001005361.3(DNM2):c.471G>T (p.Lys157Asn)
|
rs757708760
|
|
NM_001005361.3(DNM2):c.481C>A (p.Leu161Met)
|
rs1060503547
|
|
NM_001005361.3(DNM2):c.494G>A (p.Ser165Asn)
|
rs1599529964
|
|
NM_001005361.3(DNM2):c.499G>A (p.Glu167Lys)
|
|
|
NM_001005361.3(DNM2):c.533A>G (p.Asn178Ser)
|
rs777564981
|
|
NM_001005361.3(DNM2):c.54C>A (p.Asp18Glu)
|
rs2068819294
|
|
NM_001005361.3(DNM2):c.556G>T (p.Ala186Ser)
|
|
|
NM_001005361.3(DNM2):c.565C>A (p.Leu189Met)
|
|
|
NM_001005361.3(DNM2):c.577G>A (p.Val193Ile)
|
rs2145924827
|
|
NM_001005361.3(DNM2):c.589+5C>A
|
rs1290724089
|
|
NM_001005361.3(DNM2):c.590G>A (p.Gly197Asp)
|
|
|
NM_001005361.3(DNM2):c.596G>A (p.Arg199Gln)
|
rs1568294706
|
|
NM_001005361.3(DNM2):c.645C>A (p.Asp215Glu)
|
rs148900299
|
|
NM_001005361.3(DNM2):c.646G>T (p.Ala216Ser)
|
rs2071182880
|
|
NM_001005361.3(DNM2):c.655G>A (p.Val219Ile)
|
rs111845811
|
|
NM_001005361.3(DNM2):c.658T>G (p.Leu220Val)
|
|
|
NM_001005361.3(DNM2):c.65C>G (p.Ser22Cys)
|
rs2145637734
|
|
NM_001005361.3(DNM2):c.661G>A (p.Glu221Lys)
|
|
|
NM_001005361.3(DNM2):c.670T>A (p.Leu224Met)
|
rs2145929613
|
|
NM_001005361.3(DNM2):c.688G>A (p.Gly230Ser)
|
rs1245632083
|
|
NM_001005361.3(DNM2):c.695T>C (p.Ile232Thr)
|
rs749672066
|
|
NM_001005361.3(DNM2):c.695T>G (p.Ile232Ser)
|
rs749672066
|
|
NM_001005361.3(DNM2):c.700G>A (p.Val234Met)
|
rs377159042
|
|
NM_001005361.3(DNM2):c.700G>T (p.Val234Leu)
|
|
|
NM_001005361.3(DNM2):c.726T>G (p.Ile242Met)
|
|
|
NM_001005361.3(DNM2):c.733A>G (p.Lys245Glu)
|
rs2071429703
|
|
NM_001005361.3(DNM2):c.739G>C (p.Asp247His)
|
|
|
NM_001005361.3(DNM2):c.742A>G (p.Ile248Val)
|
|
|
NM_001005361.3(DNM2):c.744C>G (p.Ile248Met)
|
|
|
NM_001005361.3(DNM2):c.746G>A (p.Arg249His)
|
|
|
NM_001005361.3(DNM2):c.758C>T (p.Ala253Val)
|
rs752195631
|
|
NM_001005361.3(DNM2):c.767G>T (p.Arg256Met)
|
|
|
NM_001005361.3(DNM2):c.770A>G (p.Lys257Arg)
|
rs1568298074
|
|
NM_001005361.3(DNM2):c.776T>C (p.Phe259Ser)
|
|
|
NM_001005361.3(DNM2):c.778C>G (p.Leu260Val)
|
rs145607989
|
|
NM_001005361.3(DNM2):c.77G>C (p.Ser26Thr)
|
|
|
NM_001005361.3(DNM2):c.782C>G (p.Ser261Cys)
|
rs2071430985
|
|
NM_001005361.3(DNM2):c.784C>T (p.His262Tyr)
|
|
|
NM_001005361.3(DNM2):c.787C>T (p.Pro263Ser)
|
|
|
NM_001005361.3(DNM2):c.788C>G (p.Pro263Arg)
|
|
|
NM_001005361.3(DNM2):c.796C>T (p.Arg266Trp)
|
rs552366130
|
|
NM_001005361.3(DNM2):c.79T>G (p.Cys27Gly)
|
rs2068820028
|
|
NM_001005361.3(DNM2):c.802A>G (p.Met268Val)
|
|
|
NM_001005361.3(DNM2):c.806C>T (p.Ala269Val)
|
rs868210157
|
|
NM_001005361.3(DNM2):c.812G>T (p.Arg271Leu)
|
rs781546006
|
|
NM_001005361.3(DNM2):c.838A>G (p.Thr280Ala)
|
rs2071433079
|
|
NM_001005361.3(DNM2):c.848A>G (p.Gln283Arg)
|
|
|
NM_001005361.3(DNM2):c.852A>G (p.Gln284=)
|
|
|
NM_001005361.3(DNM2):c.857C>T (p.Thr286Ile)
|
rs747798217
|
|
NM_001005361.3(DNM2):c.860A>G (p.Asn287Ser)
|
rs1224102421
|
|
NM_001005361.3(DNM2):c.868C>G (p.Arg290Gly)
|
rs587778235
|
|
NM_001005361.3(DNM2):c.884C>T (p.Ala295Val)
|
|
|
NM_001005361.3(DNM2):c.890G>T (p.Arg297Leu)
|
rs763894364
|
|
NM_001005361.3(DNM2):c.892A>G (p.Ser298Gly)
|
|
|
NM_001005361.3(DNM2):c.896A>G (p.Lys299Arg)
|
|
|
NM_001005361.3(DNM2):c.90C>G (p.Asp30Glu)
|
rs759919549
|
|
NM_001005361.3(DNM2):c.931G>A (p.Val311Met)
|
rs2145978014
|
|
NM_001005361.3(DNM2):c.949T>C (p.Phe317Leu)
|
rs1057518858
|
|
NM_001005361.3(DNM2):c.95C>T (p.Pro32Leu)
|
rs2145637847
|
|
NM_001005361.3(DNM2):c.961G>A (p.Asp321Asn)
|
rs745794161
|
|
NM_001005361.3(DNM2):c.982G>A (p.Ala328Thr)
|
rs2145978260
|
|
NM_001005361.3(DNM2):c.992+20C>G
|
|
|
NM_001005361.3(DNM2):c.992+3A>G
|
rs1053695479
|
|
NM_001005361.3(DNM2):c.992+4T>C
|
rs1225723240
|
|
NM_001005361.3(DNM2):c.992+4T>G
|
rs1225723240
|
|
NM_001005361.3(DNM2):c.997G>A (p.Val333Ile)
|
|
|
NM_001005373.4(LRSAM1):c.1012C>T (p.Arg338Trp)
|
|
|
NM_001005373.4(LRSAM1):c.1019A>G (p.Gln340Arg)
|
|
|
NM_001005373.4(LRSAM1):c.1035C>G (p.Asp345Glu)
|
rs766701971
|
|
NM_001005373.4(LRSAM1):c.1044-7T>A
|
|
|
NM_001005373.4(LRSAM1):c.1055G>T (p.Ser352Ile)
|
rs915109407
|
|
NM_001005373.4(LRSAM1):c.1063A>G (p.Ile355Val)
|
|
|
NM_001005373.4(LRSAM1):c.106A>G (p.Ile36Val)
|
|
|
NM_001005373.4(LRSAM1):c.1081A>C (p.Asn361His)
|
rs1835524755
|
|
NM_001005373.4(LRSAM1):c.1082A>G (p.Asn361Ser)
|
rs1835524861
|
|
NM_001005373.4(LRSAM1):c.1091T>C (p.Ile364Thr)
|
rs1588123900
|
|
NM_001005373.4(LRSAM1):c.1092A>G (p.Ile364Met)
|
|
|
NM_001005373.4(LRSAM1):c.110C>G (p.Ser37Cys)
|
|
|
NM_001005373.4(LRSAM1):c.1159+3G>A
|
|
|
NM_001005373.4(LRSAM1):c.1159+5G>A
|
|
|
NM_001005373.4(LRSAM1):c.1165A>C (p.Met389Leu)
|
|
|
NM_001005373.4(LRSAM1):c.1183G>A (p.Glu395Lys)
|
rs2132080972
|
|
NM_001005373.4(LRSAM1):c.1217A>G (p.Tyr406Cys)
|
|
|
NM_001005373.4(LRSAM1):c.1236C>A (p.Asn412Lys)
|
rs186139632
|
|
NM_001005373.4(LRSAM1):c.1264G>A (p.Ala422Thr)
|
|
|
NM_001005373.4(LRSAM1):c.1264G>T (p.Ala422Ser)
|
rs372452916
|
|
NM_001005373.4(LRSAM1):c.1270A>G (p.Met424Val)
|
rs750243357
|
|
NM_001005373.4(LRSAM1):c.1274A>G (p.Asp425Gly)
|
|
|
NM_001005373.4(LRSAM1):c.1298C>T (p.Ser433Leu)
|
|
|
NM_001005373.4(LRSAM1):c.1311G>A (p.Met437Ile)
|
|
|
NM_001005373.4(LRSAM1):c.1324G>A (p.Ala442Thr)
|
|
|
NM_001005373.4(LRSAM1):c.132T>G (p.Ile44Met)
|
|
|
NM_001005373.4(LRSAM1):c.1332C>A (p.Ser444Arg)
|
rs1299926632
|
|
NM_001005373.4(LRSAM1):c.1347+6C>T
|
rs1588128875
|
|
NM_001005373.4(LRSAM1):c.1349G>A (p.Ser450Asn)
|
|
|
NM_001005373.4(LRSAM1):c.134C>T (p.Pro45Leu)
|
|
|
NM_001005373.4(LRSAM1):c.1351G>A (p.Ala451Thr)
|
rs202166023
|
|
NM_001005373.4(LRSAM1):c.1367C>T (p.Ala456Val)
|
rs1299851938
|
|
NM_001005373.4(LRSAM1):c.1382A>G (p.Gln461Arg)
|
|
|
NM_001005373.4(LRSAM1):c.13T>C (p.Phe5Leu)
|
rs201473713
|
|
NM_001005373.4(LRSAM1):c.1401G>C (p.Met467Ile)
|
|
|
NM_001005373.4(LRSAM1):c.1416G>C (p.Arg472Ser)
|
rs2132092071
|
|
NM_001005373.4(LRSAM1):c.1419C>A (p.Ser473Arg)
|
rs1345645228
|
|
NM_001005373.4(LRSAM1):c.1430T>C (p.Leu477Ser)
|
rs1835920830
|
|
NM_001005373.4(LRSAM1):c.146T>C (p.Phe49Ser)
|
rs942509436
|
|
NM_001005373.4(LRSAM1):c.147T>G (p.Phe49Leu)
|
|
|
NM_001005373.4(LRSAM1):c.148G>C (p.Ala50Pro)
|
|
|
NM_001005373.4(LRSAM1):c.1495T>C (p.Ser499Pro)
|
|
|
NM_001005373.4(LRSAM1):c.1503+4T>C
|
|
|
NM_001005373.4(LRSAM1):c.1503+6T>C
|
rs2132098269
|
|
NM_001005373.4(LRSAM1):c.1504-14G>A
|
|
|
NM_001005373.4(LRSAM1):c.1510A>T (p.Ile504Phe)
|
rs1472578658
|
|
NM_001005373.4(LRSAM1):c.1537T>C (p.Ser513Pro)
|
rs748161826
|
|
NM_001005373.4(LRSAM1):c.158A>G (p.Lys53Arg)
|
rs754095363
|
|
NM_001005373.4(LRSAM1):c.1598T>G (p.Leu533Arg)
|
|
|
NM_001005373.4(LRSAM1):c.1605_1607dup (p.Leu536_Glu537insLeu)
|
|
|
NM_001005373.4(LRSAM1):c.160G>A (p.Val54Ile)
|
|
|
NM_001005373.4(LRSAM1):c.1619G>A (p.Ser540Asn)
|
|
|
NM_001005373.4(LRSAM1):c.1642T>A (p.Trp548Arg)
|
|
|
NM_001005373.4(LRSAM1):c.1659A>T (p.Gln553His)
|
|
|
NM_001005373.4(LRSAM1):c.1666T>A (p.Leu556Met)
|
|
|
NM_001005373.4(LRSAM1):c.166C>A (p.Gln56Lys)
|
|
|
NM_001005373.4(LRSAM1):c.1698+6G>A
|
|
|
NM_001005373.4(LRSAM1):c.1698A>G (p.Gln566=)
|
rs1256215388
|
|
NM_001005373.4(LRSAM1):c.1714C>G (p.Arg572Gly)
|
|
|
NM_001005373.4(LRSAM1):c.1715G>A (p.Arg572His)
|
rs1451403749
|
|
NM_001005373.4(LRSAM1):c.1730T>C (p.Leu577Pro)
|
rs1836124813
|
|
NM_001005373.4(LRSAM1):c.173A>G (p.Lys58Arg)
|
rs1235938569
|
|
NM_001005373.4(LRSAM1):c.1747G>A (p.Ala583Thr)
|
rs1202628332
|
|
NM_001005373.4(LRSAM1):c.1751A>C (p.Glu584Ala)
|
|
|
NM_001005373.4(LRSAM1):c.1753C>G (p.His585Asp)
|
rs1183629673
|
|
NM_001005373.4(LRSAM1):c.176T>C (p.Val59Ala)
|
rs1834556433
|
|
NM_001005373.4(LRSAM1):c.1773_1774delinsAA (p.His592Asn)
|
rs1836128229
|
|
NM_001005373.4(LRSAM1):c.1775A>G (p.His592Arg)
|
|
|
NM_001005373.4(LRSAM1):c.1775A>T (p.His592Leu)
|
|
|
NM_001005373.4(LRSAM1):c.1778A>G (p.His593Arg)
|
|
|
NM_001005373.4(LRSAM1):c.1806A>T (p.Gln602His)
|
rs1462342285
|
|
NM_001005373.4(LRSAM1):c.1817G>A (p.Gly606Glu)
|
|
|
NM_001005373.4(LRSAM1):c.1819G>T (p.Asp607Tyr)
|
rs1480003668
|
|
NM_001005373.4(LRSAM1):c.182T>C (p.Ile61Thr)
|
rs1834556629
|
|
NM_001005373.4(LRSAM1):c.1831G>A (p.Val611Met)
|
rs771783337
|
|
NM_001005373.4(LRSAM1):c.1840T>C (p.Ser614Pro)
|
|
|
NM_001005373.4(LRSAM1):c.1864A>G (p.Ile622Val)
|
rs1836186573
|
|
NM_001005373.4(LRSAM1):c.1867C>T (p.Leu623Phe)
|
|
|
NM_001005373.4(LRSAM1):c.1870C>T (p.Arg624Trp)
|
rs375938990
|
|
NM_001005373.4(LRSAM1):c.1886T>G (p.Leu629Arg)
|
rs1836188217
|
|
NM_001005373.4(LRSAM1):c.1892A>G (p.Asp631Gly)
|
rs1564283787
|
|
NM_001005373.4(LRSAM1):c.1912+4_1912+5delinsTC
|
rs1836189857
|
|
NM_001005373.4(LRSAM1):c.1918A>G (p.Lys640Glu)
|
|
|
NM_001005373.4(LRSAM1):c.191C>T (p.Thr64Met)
|
|
|
NM_001005373.4(LRSAM1):c.1921CCA[1] (p.Pro642del)
|
|
|
NM_001005373.4(LRSAM1):c.1922C>T (p.Pro641Leu)
|
|
|
NM_001005373.4(LRSAM1):c.1927A>G (p.Met643Val)
|
|
|
NM_001005373.4(LRSAM1):c.1930G>A (p.Gly644Ser)
|
rs201284198
|
|
NM_001005373.4(LRSAM1):c.1930G>T (p.Gly644Cys)
|
rs201284198
|
|
NM_001005373.4(LRSAM1):c.1936G>A (p.Val646Ile)
|
rs748358043
|
|
NM_001005373.4(LRSAM1):c.1943C>T (p.Thr648Ile)
|
|
|
NM_001005373.4(LRSAM1):c.1963C>T (p.Pro655Ser)
|
rs1291622809
|
|
NM_001005373.4(LRSAM1):c.1964C>T (p.Pro655Leu)
|
rs376913816
|
|
NM_001005373.4(LRSAM1):c.1985C>T (p.Ser662Phe)
|
|
|
NM_001005373.4(LRSAM1):c.1987G>A (p.Ala663Thr)
|
|
|
NM_001005373.4(LRSAM1):c.1990C>A (p.Pro664Thr)
|
rs148846371
|
|
NM_001005373.4(LRSAM1):c.1990C>T (p.Pro664Ser)
|
|
|
NM_001005373.4(LRSAM1):c.1A>T (p.Met1Leu)
|
rs1399738186
|
|
NM_001005373.4(LRSAM1):c.2008G>A (p.Val670Met)
|
|
|
NM_001005373.4(LRSAM1):c.2008del (p.Val670fs)
|
rs1836372698
|
|
NM_001005373.4(LRSAM1):c.2023T>A (p.Cys675Ser)
|
|
|
NM_001005373.4(LRSAM1):c.2026G>T (p.Val676Phe)
|
|
|
NM_001005373.4(LRSAM1):c.2029G>A (p.Val677Met)
|
|
|
NM_001005373.4(LRSAM1):c.2029_2046+7del
|
rs1836374325
|
|
NM_001005373.4(LRSAM1):c.2032T>C (p.Cys678Arg)
|
|
|
NM_001005373.4(LRSAM1):c.2033G>A (p.Cys678Tyr)
|
|
|
NM_001005373.4(LRSAM1):c.2033G>C (p.Cys678Ser)
|
rs2132128518
|
|
NM_001005373.4(LRSAM1):c.2036T>C (p.Leu679Pro)
|
rs1564286814
|
|
NM_001005373.4(LRSAM1):c.2042G>C (p.Arg681Pro)
|
rs143479340
|
|
NM_001005373.4(LRSAM1):c.2046+1G>A
|
|
|
NM_001005373.4(LRSAM1):c.2046_2046+12del
|
rs2132128595
|
|
NM_001005373.4(LRSAM1):c.2056A>G (p.Ile686Val)
|
rs1836444367
|
|
NM_001005373.4(LRSAM1):c.2060T>C (p.Phe687Ser)
|
rs1836444481
|
|
NM_001005373.4(LRSAM1):c.2069G>A (p.Cys690Tyr)
|
rs2132133792
|
|
NM_001005373.4(LRSAM1):c.2074C>G (p.His692Asp)
|
rs1836445139
|
|
NM_001005373.4(LRSAM1):c.2074C>T (p.His692Tyr)
|
rs1836445139
|
|
NM_001005373.4(LRSAM1):c.2076C>A (p.His692Gln)
|
rs753650841
|
|
NM_001005373.4(LRSAM1):c.2077G>A (p.Val693Ile)
|
|
|
NM_001005373.4(LRSAM1):c.2077G>C (p.Val693Leu)
|
|
|
NM_001005373.4(LRSAM1):c.2086T>A (p.Cys696Ser)
|
rs2132133880
|
|
NM_001005373.4(LRSAM1):c.2087G>A (p.Cys696Tyr)
|
rs1588144651
|
|
NM_001005373.4(LRSAM1):c.2087G>T (p.Cys696Phe)
|
|
|
NM_001005373.4(LRSAM1):c.2096G>T (p.Cys699Phe)
|
rs1275428830
|
|
NM_001005373.4(LRSAM1):c.2098T>C (p.Cys700Arg)
|
|
|
NM_001005373.4(LRSAM1):c.2108T>C (p.Leu703Pro)
|
rs1588144691
|
|
NM_001005373.4(LRSAM1):c.2110C>A (p.Arg704Ser)
|
rs150984897
|
|
NM_001005373.4(LRSAM1):c.2120C>G (p.Pro707Arg)
|
|
|
NM_001005373.4(LRSAM1):c.2161_2163del (p.His721del)
|
rs1196955593
|
|
NM_001005373.4(LRSAM1):c.247A>G (p.Ile83Val)
|
|
|
NM_001005373.4(LRSAM1):c.253G>A (p.Val85Ile)
|
rs765537196
|
|
NM_001005373.4(LRSAM1):c.253G>T (p.Val85Phe)
|
|
|
NM_001005373.4(LRSAM1):c.262C>A (p.Leu88Ile)
|
rs757094037
|
|
NM_001005373.4(LRSAM1):c.275A>G (p.Gln92Arg)
|
rs769569457
|
|
NM_001005373.4(LRSAM1):c.301G>A (p.Gly101Arg)
|
rs558871054
|
|
NM_001005373.4(LRSAM1):c.322-2_322-1insACGTGGAAA
|
|
|
NM_001005373.4(LRSAM1):c.341A>G (p.Asn114Ser)
|
rs2132010693
|
|
NM_001005373.4(LRSAM1):c.355C>G (p.Leu119Val)
|
rs1224073398
|
|
NM_001005373.4(LRSAM1):c.361C>T (p.Arg121Cys)
|
|
|
NM_001005373.4(LRSAM1):c.368T>A (p.Ile123Asn)
|
|
|
NM_001005373.4(LRSAM1):c.370G>A (p.Gly124Arg)
|
|
|
NM_001005373.4(LRSAM1):c.375C>A (p.Asn125Lys)
|
rs779873656
|
|
NM_001005373.4(LRSAM1):c.382C>A (p.Gln128Lys)
|
rs1168470052
|
|
NM_001005373.4(LRSAM1):c.405A>G (p.Lys135=)
|
rs1834732440
|
|
NM_001005373.4(LRSAM1):c.406+5G>A
|
rs1834732559
|
|
NM_001005373.4(LRSAM1):c.431A>C (p.Asp144Ala)
|
|
|
NM_001005373.4(LRSAM1):c.436G>C (p.Val146Leu)
|
rs555377969
|
|
NM_001005373.4(LRSAM1):c.44G>T (p.Arg15Leu)
|
|
|
NM_001005373.4(LRSAM1):c.484A>T (p.Ile162Phe)
|
|
|
NM_001005373.4(LRSAM1):c.497C>G (p.Pro166Arg)
|
rs142085060
|
|
NM_001005373.4(LRSAM1):c.506T>A (p.Leu169Gln)
|
rs2132014587
|
|
NM_001005373.4(LRSAM1):c.518G>A (p.Arg173Gln)
|
|
|
NM_001005373.4(LRSAM1):c.521C>T (p.Thr174Ile)
|
rs2132014659
|
|
NM_001005373.4(LRSAM1):c.528+6T>C
|
|
|
NM_001005373.4(LRSAM1):c.528G>A (p.Glu176=)
|
rs1564255509
|
|
NM_001005373.4(LRSAM1):c.533T>C (p.Leu178Pro)
|
|
|
NM_001005373.4(LRSAM1):c.544G>T (p.Ala182Ser)
|
rs780636250
|
|
NM_001005373.4(LRSAM1):c.553A>G (p.Met185Val)
|
|
|
NM_001005373.4(LRSAM1):c.565C>A (p.Pro189Thr)
|
|
|
NM_001005373.4(LRSAM1):c.572A>T (p.Glu191Val)
|
|
|
NM_001005373.4(LRSAM1):c.578G>A (p.Cys193Tyr)
|
|
|
NM_001005373.4(LRSAM1):c.580G>A (p.Gly194Ser)
|
rs1193320677
|
|
NM_001005373.4(LRSAM1):c.593C>A (p.Ala198Glu)
|
rs758867006
|
|
NM_001005373.4(LRSAM1):c.593C>T (p.Ala198Val)
|
rs758867006
|
|
NM_001005373.4(LRSAM1):c.595G>A (p.Ala199Thr)
|
rs745326217
|
|
NM_001005373.4(LRSAM1):c.618A>G (p.Lys206=)
|
|
|
NM_001005373.4(LRSAM1):c.620-7_620-6del
|
rs1468536961
|
|
NM_001005373.4(LRSAM1):c.625G>A (p.Gly209Arg)
|
|
|
NM_001005373.4(LRSAM1):c.640C>T (p.Pro214Ser)
|
|
|
NM_001005373.4(LRSAM1):c.643C>A (p.Pro215Thr)
|
rs765389102
|
|
NM_001005373.4(LRSAM1):c.643C>G (p.Pro215Ala)
|
rs765389102
|
|
NM_001005373.4(LRSAM1):c.676G>A (p.Asp226Asn)
|
rs1419447675
|
|
NM_001005373.4(LRSAM1):c.684C>G (p.Ile228Met)
|
rs376671005
|
|
NM_001005373.4(LRSAM1):c.689A>T (p.Asn230Ile)
|
rs2132047940
|
|
NM_001005373.4(LRSAM1):c.695G>T (p.Arg232Leu)
|
|
|
NM_001005373.4(LRSAM1):c.707A>G (p.Asp236Gly)
|
|
|
NM_001005373.4(LRSAM1):c.716C>G (p.Thr239Arg)
|
|
|
NM_001005373.4(LRSAM1):c.716C>T (p.Thr239Met)
|
rs565827207
|
|
NM_001005373.4(LRSAM1):c.72+10del
|
rs1554753226
|
|
NM_001005373.4(LRSAM1):c.735G>C (p.Glu245Asp)
|
rs2132048170
|
|
NM_001005373.4(LRSAM1):c.756G>T (p.Arg252Ser)
|
|
|
NM_001005373.4(LRSAM1):c.766T>C (p.Tyr256His)
|
rs2132060933
|
|
NM_001005373.4(LRSAM1):c.781-15A>T
|
|
|
NM_001005373.4(LRSAM1):c.781G>A (p.Glu261Lys)
|
rs2132062152
|
|
NM_001005373.4(LRSAM1):c.792G>A (p.Met264Ile)
|
rs773572737
|
|
NM_001005373.4(LRSAM1):c.815G>A (p.Arg272Gln)
|
|
|
NM_001005373.4(LRSAM1):c.818G>A (p.Arg273His)
|
rs368088593
|
|
NM_001005373.4(LRSAM1):c.818G>C (p.Arg273Pro)
|
|
|
NM_001005373.4(LRSAM1):c.823G>A (p.Glu275Lys)
|
rs767107676
|
|
NM_001005373.4(LRSAM1):c.836G>A (p.Arg279Gln)
|
|
|
NM_001005373.4(LRSAM1):c.842A>G (p.His281Arg)
|
|
|
NM_001005373.4(LRSAM1):c.847C>G (p.Gln283Glu)
|
|
|
NM_001005373.4(LRSAM1):c.850C>T (p.Leu284Phe)
|
rs1835452387
|
|
NM_001005373.4(LRSAM1):c.866G>A (p.Ser289Asn)
|
|
|
NM_001005373.4(LRSAM1):c.89C>A (p.Ala30Glu)
|
rs769070078
|
|
NM_001005373.4(LRSAM1):c.904-20A>T
|
rs1588120687
|
|
NM_001005373.4(LRSAM1):c.904-3C>T
|
|
|
NM_001005373.4(LRSAM1):c.917T>C (p.Leu306Pro)
|
rs140151379
|
|
NM_001005373.4(LRSAM1):c.91G>A (p.Asp31Asn)
|
rs1564248731
|
|
NM_001005373.4(LRSAM1):c.929T>G (p.Leu310Arg)
|
|
|
NM_001005373.4(LRSAM1):c.937C>T (p.His313Tyr)
|
rs1588120809
|
|
NM_001005373.4(LRSAM1):c.951_952inv (p.Asn318Asp)
|
|
|
NM_001005373.4(LRSAM1):c.953A>G (p.Asn318Ser)
|
|
|
NM_001005373.4(LRSAM1):c.961C>T (p.Arg321Trp)
|
|
|
NM_001005373.4(LRSAM1):c.982C>G (p.Leu328Val)
|
rs2132064383
|
|
NM_001122955.4(BSCL2):c.1005+3C>T
|
rs372166360
|
|
NM_001122955.4(BSCL2):c.1022G>C (p.Arg341Thr)
|
|
|
NM_001122955.4(BSCL2):c.1024G>C (p.Asp342His)
|
|
|
NM_001122955.4(BSCL2):c.1025A>C (p.Asp342Ala)
|
|
|
NM_001122955.4(BSCL2):c.1026C>G (p.Asp342Glu)
|
rs1945297760
|
|
NM_001122955.4(BSCL2):c.1028A>G (p.Asn343Ser)
|
rs1440384464
|
|
NM_001122955.4(BSCL2):c.1034G>T (p.Arg345Leu)
|
rs202072835
|
|
NM_001122955.4(BSCL2):c.1038G>T (p.Lys346Asn)
|
rs1565143263
|
|
NM_001122955.4(BSCL2):c.1048C>G (p.Arg350Gly)
|
rs763070770
|
|
NM_001122955.4(BSCL2):c.1063C>T (p.His355Tyr)
|
|
|
NM_001122955.4(BSCL2):c.1072+3A>G
|
|
|
NM_001122955.4(BSCL2):c.1075C>T (p.Pro359Ser)
|
rs2134690233
|
|
NM_001122955.4(BSCL2):c.1087GAG[1] (p.Glu364del)
|
|
|
NM_001122955.4(BSCL2):c.1090_1091inv (p.Glu364Ser)
|
|
|
NM_001122955.4(BSCL2):c.1097C>G (p.Thr366Ser)
|
rs1424325463
|
|
NM_001122955.4(BSCL2):c.1120G>C (p.Asp374His)
|
rs778455259
|
|
NM_001122955.4(BSCL2):c.1120G>T (p.Asp374Tyr)
|
rs778455259
|
|
NM_001122955.4(BSCL2):c.1141C>A (p.Pro381Thr)
|
rs1294077057
|
|
NM_001122955.4(BSCL2):c.1150A>G (p.Thr384Ala)
|
|
|
NM_001122955.4(BSCL2):c.1152A>G (p.Thr384=)
|
|
|
NM_001122955.4(BSCL2):c.1153G>C (p.Glu385Gln)
|
|
|
NM_001122955.4(BSCL2):c.1168G>C (p.Glu390Gln)
|
|
|
NM_001122955.4(BSCL2):c.1168GAG[2] (p.Glu392del)
|
rs769661232
|
|
NM_001122955.4(BSCL2):c.1171G>A (p.Glu391Lys)
|
rs1195655527
|
|
NM_001122955.4(BSCL2):c.1220C>T (p.Pro407Leu)
|
|
|
NM_001122955.4(BSCL2):c.1233T>C (p.Asp411=)
|
|
|
NM_001122955.4(BSCL2):c.1235-2_1235-1insCCAA
|
|
|
NM_001122955.4(BSCL2):c.1244C>T (p.Ser415Phe)
|
rs1590868109
|
|
NM_001122955.4(BSCL2):c.1268C>T (p.Thr423Met)
|
rs1266361176
|
|
NM_001122955.4(BSCL2):c.1270G>C (p.Glu424Gln)
|
|
|
NM_001122955.4(BSCL2):c.1276A>G (p.Asn426Asp)
|
rs1554982825
|
|
NM_001122955.4(BSCL2):c.1277A>G (p.Asn426Ser)
|
rs1450251165
|
|
NM_001122955.4(BSCL2):c.1282CCTGCT[4] (p.428PA[4])
|
rs771054711
|
|
NM_001122955.4(BSCL2):c.1288C>A (p.Pro430Thr)
|
|
|
NM_001122955.4(BSCL2):c.1291G>C (p.Ala431Pro)
|
|
|
NM_001122955.4(BSCL2):c.1295C>T (p.Pro432Leu)
|
|
|
NM_001122955.4(BSCL2):c.1299TTCTGC[1] (p.434SA[1])
|
rs747175358
|
|
NM_001122955.4(BSCL2):c.1299TTCTGC[3] (p.434SA[3])
|
rs747175358
|
|
NM_001122955.4(BSCL2):c.1300T>C (p.Ser434Pro)
|
rs199584887
|
|
NM_001122955.4(BSCL2):c.1300T>G (p.Ser434Ala)
|
rs199584887
|
|
NM_001122955.4(BSCL2):c.1309G>C (p.Ala437Pro)
|
rs199787351
|
|
NM_001122955.4(BSCL2):c.1330G>A (p.Gly444Ser)
|
rs1488410118
|
|
NM_001122955.4(BSCL2):c.1352G>C (p.Gly451Ala)
|
rs779952369
|
|
NM_001122955.4(BSCL2):c.1373C>T (p.Thr458Ile)
|
rs1945272396
|
|
NM_001122955.4(BSCL2):c.1376G>A (p.Cys459Tyr)
|
rs775890636
|
|
NM_001122955.4(BSCL2):c.193A>G (p.Met65Val)
|
|
|
NM_001122955.4(BSCL2):c.205C>T (p.Pro69Ser)
|
|
|
NM_001122955.4(BSCL2):c.234G>A (p.Gln78=)
|
rs2083512739
|
|
NM_001122955.4(BSCL2):c.247G>A (p.Val83Ile)
|
rs770641122
|
|
NM_001122955.4(BSCL2):c.250T>G (p.Leu84Val)
|
|
|
NM_001122955.4(BSCL2):c.260G>A (p.Arg87His)
|
|
|
NM_001122955.4(BSCL2):c.265C>T (p.Arg89Cys)
|
|
|
NM_001122955.4(BSCL2):c.266G>C (p.Arg89Pro)
|
rs780387759
|
|
NM_001122955.4(BSCL2):c.266G>T (p.Arg89Leu)
|
rs780387759
|
|
NM_001122955.4(BSCL2):c.268A>T (p.Arg90Trp)
|
rs1428360757
|
|
NM_001122955.4(BSCL2):c.289G>A (p.Val97Met)
|
rs2083510633
|
|
NM_001122955.4(BSCL2):c.311T>A (p.Leu104His)
|
rs990055355
|
|
NM_001122955.4(BSCL2):c.329T>G (p.Val110Gly)
|
|
|
NM_001122955.4(BSCL2):c.334C>T (p.Leu112Phe)
|
rs1057517657
|
|
NM_001122955.4(BSCL2):c.350A>G (p.Tyr117Cys)
|
|
|
NM_001122955.4(BSCL2):c.359A>T (p.Tyr120Phe)
|
rs370905417
|
|
NM_001122955.4(BSCL2):c.361A>G (p.Met121Val)
|
rs2134740508
|
|
NM_001122955.4(BSCL2):c.363G>T (p.Met121Ile)
|
rs2134740499
|
|
NM_001122955.4(BSCL2):c.367A>T (p.Thr123Ser)
|
rs1349958377
|
|
NM_001122955.4(BSCL2):c.368C>T (p.Thr123Ile)
|
rs1308826157
|
|
NM_001122955.4(BSCL2):c.376C>T (p.His126Tyr)
|
|
|
NM_001122955.4(BSCL2):c.388G>T (p.Val130Leu)
|
rs2083508973
|
|
NM_001122955.4(BSCL2):c.396C>G (p.Phe132Leu)
|
|
|
NM_001122955.4(BSCL2):c.409G>A (p.Asp137Asn)
|
rs879253900
|
|
NM_001122955.4(BSCL2):c.419C>G (p.Ser140Cys)
|
rs1590881712
|
|
NM_001122955.4(BSCL2):c.422C>T (p.Ser141Phe)
|
rs1590881708
|
|
NM_001122955.4(BSCL2):c.440C>T (p.Ser147Phe)
|
|
|
NM_001122955.4(BSCL2):c.445C>A (p.Pro149Thr)
|
|
|
NM_001122955.4(BSCL2):c.452C>G (p.Ala151Gly)
|
rs1003234218
|
|
NM_001122955.4(BSCL2):c.478C>A (p.Arg160Ser)
|
rs772536764
|
|
NM_001122955.4(BSCL2):c.478C>T (p.Arg160Cys)
|
rs772536764
|
|
NM_001122955.4(BSCL2):c.479G>A (p.Arg160His)
|
|
|
NM_001122955.4(BSCL2):c.506C>T (p.Pro169Leu)
|
rs1325008761
|
|
NM_001122955.4(BSCL2):c.509A>T (p.Tyr170Phe)
|
|
|
NM_001122955.4(BSCL2):c.511C>T (p.Arg171Cys)
|
|
|
NM_001122955.4(BSCL2):c.512G>A (p.Arg171His)
|
rs377609967
|
|
NM_001122955.4(BSCL2):c.555A>T (p.Gln185His)
|
|
|
NM_001122955.4(BSCL2):c.559T>G (p.Leu187Val)
|
|
|
NM_001122955.4(BSCL2):c.630+4A>G
|
|
|
NM_001122955.4(BSCL2):c.630+5G>T
|
rs906321138
|
|
NM_001122955.4(BSCL2):c.630G>A (p.Ser210=)
|
rs150158560
|
|
NM_001122955.4(BSCL2):c.630G>C (p.Ser210=)
|
rs150158560
|
|
NM_001122955.4(BSCL2):c.630G>T (p.Ser210=)
|
|
|
NM_001122955.4(BSCL2):c.631-5G>A
|
|
|
NM_001122955.4(BSCL2):c.631-7C>A
|
rs1945347921
|
|
NM_001122955.4(BSCL2):c.652G>C (p.Asp218His)
|
|
|
NM_001122955.4(BSCL2):c.666G>A (p.Met222Ile)
|
|
|
NM_001122955.4(BSCL2):c.679G>T (p.Val227Phe)
|
rs1565144788
|
|
NM_001122955.4(BSCL2):c.680TCT[1] (p.Phe228del)
|
rs1131691748
|
|
NM_001122955.4(BSCL2):c.711A>C (p.Ala237=)
|
|
|
NM_001122955.4(BSCL2):c.742T>C (p.Tyr248His)
|
rs1945345474
|
|
NM_001122955.4(BSCL2):c.745G>T (p.Ala249Ser)
|
rs10776
|
|
NM_001122955.4(BSCL2):c.748G>A (p.Asp250Asn)
|
|
|
NM_001122955.4(BSCL2):c.765G>T (p.Ser255=)
|
rs774120735
|
|
NM_001122955.4(BSCL2):c.776C>T (p.Thr259Ile)
|
rs1565144468
|
|
NM_001122955.4(BSCL2):c.790_792del (p.Ile264del)
|
|
|
NM_001122955.4(BSCL2):c.806A>G (p.Lys269Arg)
|
rs781217574
|
|
NM_001122955.4(BSCL2):c.812T>A (p.Ile271Asn)
|
rs2134695330
|
|
NM_001122955.4(BSCL2):c.829T>C (p.Tyr277His)
|
|
|
NM_001122955.4(BSCL2):c.830A>C (p.Tyr277Ser)
|
|
|
NM_001122955.4(BSCL2):c.836G>A (p.Arg279His)
|
|
|
NM_001122955.4(BSCL2):c.836G>T (p.Arg279Leu)
|
rs142608646
|
|
NM_001122955.4(BSCL2):c.849C>G (p.His283Gln)
|
rs911982128
|
|
NM_001122955.4(BSCL2):c.853A>G (p.Thr285Ala)
|
rs749862649
|
|
NM_001122955.4(BSCL2):c.859C>T (p.Leu287Phe)
|
rs1945335146
|
|
NM_001122955.4(BSCL2):c.864-16C>G
|
|
|
NM_001122955.4(BSCL2):c.882C>G (p.Phe294Leu)
|
rs786204131
|
|
NM_001122955.4(BSCL2):c.883C>A (p.Pro295Thr)
|
rs935812889
|
|
NM_001122955.4(BSCL2):c.887T>C (p.Met296Thr)
|
|
|
NM_001122955.4(BSCL2):c.908T>C (p.Val303Ala)
|
|
|
NM_001122955.4(BSCL2):c.921C>A (p.Phe307Leu)
|
|
|
NM_001122955.4(BSCL2):c.923C>T (p.Thr308Ile)
|
rs758460754
|
|
NM_001122955.4(BSCL2):c.925T>A (p.Phe309Ile)
|
|
|
NM_001122955.4(BSCL2):c.928C>T (p.Leu310Phe)
|
|
|
NM_001122955.4(BSCL2):c.932G>A (p.Ser311Asn)
|
|
|
NM_001122955.4(BSCL2):c.947T>G (p.Phe316Cys)
|
rs1470975752
|
|
NM_001122955.4(BSCL2):c.968G>C (p.Trp323Ser)
|
rs367783346
|
|
NM_001122955.4(BSCL2):c.968G>T (p.Trp323Leu)
|
rs367783346
|
|
NM_001122955.4(BSCL2):c.971G>C (p.Gly324Ala)
|
rs1945304059
|
|
NM_001122955.4(BSCL2):c.973G>A (p.Gly325Ser)
|
rs760106114
|
|
NM_001122955.4(BSCL2):c.973G>T (p.Gly325Cys)
|
rs760106114
|
|
NM_001136472.2(LITAF):c.100C>T (p.Pro34Ser)
|
|
|
NM_001136472.2(LITAF):c.112G>A (p.Ala38Thr)
|
|
|
NM_001136472.2(LITAF):c.134C>T (p.Thr45Met)
|
|
|
NM_001136472.2(LITAF):c.143T>C (p.Val48Ala)
|
|
|
NM_001136472.2(LITAF):c.149G>T (p.Gly50Val)
|
|
|
NM_001136472.2(LITAF):c.168del (p.Met56fs)
|
rs2064272514
|
|
NM_001136472.2(LITAF):c.176C>G (p.Pro59Arg)
|
|
|
NM_001136472.2(LITAF):c.182A>G (p.Tyr61Cys)
|
rs2141716501
|
|
NM_001136472.2(LITAF):c.199C>T (p.Pro67Ser)
|
rs2064271547
|
|
NM_001136472.2(LITAF):c.205C>T (p.Pro69Ser)
|
rs1555466907
|
|
NM_001136472.2(LITAF):c.215A>G (p.Asn72Ser)
|
|
|
NM_001136472.2(LITAF):c.226G>T (p.Val76Leu)
|
rs371334679
|
|
NM_001136472.2(LITAF):c.232A>G (p.Thr78Ala)
|
|
|
NM_001136472.2(LITAF):c.236T>C (p.Val79Ala)
|
rs1597329501
|
|
NM_001136472.2(LITAF):c.241G>T (p.Val81Leu)
|
|
|
NM_001136472.2(LITAF):c.271C>T (p.Pro91Ser)
|
|
|
NM_001136472.2(LITAF):c.272C>G (p.Pro91Arg)
|
rs11544251
|
|
NM_001136472.2(LITAF):c.272C>T (p.Pro91Leu)
|
rs11544251
|
|
NM_001136472.2(LITAF):c.283T>C (p.Cys95Arg)
|
rs2064218551
|
|
NM_001136472.2(LITAF):c.284G>A (p.Cys95Tyr)
|
|
|
NM_001136472.2(LITAF):c.310G>T (p.Val104Leu)
|
rs373445989
|
|
NM_001136472.2(LITAF):c.332C>T (p.Ala111Val)
|
rs281865134
|
|
NM_001136472.2(LITAF):c.335G>A (p.Gly112Asp)
|
|
|
NM_001136472.2(LITAF):c.340C>G (p.Leu114Val)
|
rs1567235442
|
|
NM_001136472.2(LITAF):c.348G>C (p.Trp116Cys)
|
|
|
NM_001136472.2(LITAF):c.358G>A (p.Gly120Arg)
|
|
|
NM_001136472.2(LITAF):c.371T>C (p.Leu124Pro)
|
rs1597329148
|
|
NM_001136472.2(LITAF):c.374T>C (p.Leu125Pro)
|
rs2064215657
|
|
NM_001136472.2(LITAF):c.382A>G (p.Ile128Val)
|
|
|
NM_001136472.2(LITAF):c.385G>A (p.Ala129Thr)
|
rs797044847
|
|
NM_001136472.2(LITAF):c.388G>T (p.Gly130Cys)
|
rs879254325
|
|
NM_001136472.2(LITAF):c.389G>C (p.Gly130Ala)
|
rs2141682573
|
|
NM_001136472.2(LITAF):c.392G>A (p.Cys131Tyr)
|
|
|
NM_001136472.2(LITAF):c.3G>A (p.Met1Ile)
|
rs560130408
|
|
NM_001136472.2(LITAF):c.3G>T (p.Met1Ile)
|
|
|
NM_001136472.2(LITAF):c.404C>T (p.Pro135Leu)
|
rs797044848
|
|
NM_001136472.2(LITAF):c.407T>C (p.Phe136Ser)
|
rs2141682435
|
|
NM_001136472.2(LITAF):c.409T>C (p.Cys137Arg)
|
rs2064155943
|
|
NM_001136472.2(LITAF):c.409T>G (p.Cys137Gly)
|
rs2064155943
|
|
NM_001136472.2(LITAF):c.412G>A (p.Val138Met)
|
rs780788687
|
|
NM_001136472.2(LITAF):c.415G>C (p.Asp139His)
|
|
|
NM_001136472.2(LITAF):c.424C>T (p.Gln142Ter)
|
rs1174214039
|
|
NM_001136472.2(LITAF):c.429C>A (p.Asp143Glu)
|
rs374918259
|
|
NM_001136472.2(LITAF):c.430G>T (p.Val144Leu)
|
rs121908615
|
|
NM_001136472.2(LITAF):c.449A>G (p.Asn150Ser)
|
|
|
NM_001136472.2(LITAF):c.450C>A (p.Asn150Lys)
|
|
|
NM_001136472.2(LITAF):c.450C>G (p.Asn150Lys)
|
|
|
NM_001136472.2(LITAF):c.458C>T (p.Ala153Val)
|
|
|
NM_001136472.2(LITAF):c.468C>T (p.Gly156=)
|
rs774123275
|
|
NM_001136472.2(LITAF):c.46G>T (p.Ala16Ser)
|
rs2064275795
|
|
NM_001136472.2(LITAF):c.470C>G (p.Thr157Ser)
|
|
|
NM_001136472.2(LITAF):c.473A>G (p.Tyr158Cys)
|
rs772527709
|
|
NM_001136472.2(LITAF):c.483G>C (p.Leu161Phe)
|
|
|
NM_001136472.2(LITAF):c.50C>T (p.Pro17Leu)
|
|
|
NM_001136472.2(LITAF):c.55G>A (p.Ala19Thr)
|
rs753060675
|
|
NM_001136472.2(LITAF):c.56C>T (p.Ala19Val)
|
|
|
NM_001136472.2(LITAF):c.5C>T (p.Ser2Leu)
|
|
|
NM_001136472.2(LITAF):c.85G>A (p.Val29Ile)
|
rs767809270
|
|
NM_001142386.3(PDK3):c.1218A>G (p.Gln406=)
|
|
|
NM_001142386.3(PDK3):c.1226T>C (p.Ile409Thr)
|
|
|
NM_001190716.2(DNM2):c.2544-3_2544-1del
|
|
|
NM_001303256.3(MORC2):c.1018A>G (p.Ile340Val)
|
rs1602487890
|
|
NM_001303256.3(MORC2):c.1028G>A (p.Arg343His)
|
rs753651729
|
|
NM_001303256.3(MORC2):c.1028G>T (p.Arg343Leu)
|
|
|
NM_001303256.3(MORC2):c.1073G>A (p.Arg358Gln)
|
|
|
NM_001303256.3(MORC2):c.1074-20G>C
|
|
|
NM_001303256.3(MORC2):c.1074-7T>G
|
|
|
NM_001303256.3(MORC2):c.1075G>T (p.Ala359Ser)
|
rs2147257419
|
|
NM_001303256.3(MORC2):c.1078C>T (p.Leu360Phe)
|
rs1268129848
|
|
NM_001303256.3(MORC2):c.1083_1086del (p.Lys361fs)
|
rs1602486072
|
|
NM_001303256.3(MORC2):c.109G>C (p.Val37Leu)
|
|
|
NM_001303256.3(MORC2):c.1129C>T (p.Arg377Trp)
|
|
|
NM_001303256.3(MORC2):c.1130G>A (p.Arg377Gln)
|
|
|
NM_001303256.3(MORC2):c.1133A>T (p.Asp378Val)
|
rs2040683848
|
|
NM_001303256.3(MORC2):c.1166G>A (p.Arg389Gln)
|
|
|
NM_001303256.3(MORC2):c.1186A>G (p.Lys396Glu)
|
|
|
NM_001303256.3(MORC2):c.1191G>A (p.Val397=)
|
|
|
NM_001303256.3(MORC2):c.1206dup (p.Gly403fs)
|
|
|
NM_001303256.3(MORC2):c.1213A>G (p.Met405Val)
|
rs1489926879
|
|
NM_001303256.3(MORC2):c.1215-11_1215-10delinsCT
|
|
|
NM_001303256.3(MORC2):c.1226GGGTTGTTG[3] (p.409GVV[3])
|
rs1555938722
|
|
NM_001303256.3(MORC2):c.123-3C>T
|
|
|
NM_001303256.3(MORC2):c.1245T>A (p.Asp415Glu)
|
|
|
NM_001303256.3(MORC2):c.1250C>G (p.Pro417Arg)
|
rs2147256638
|
|
NM_001303256.3(MORC2):c.1280A>G (p.Lys427Arg)
|
rs2147256585
|
|
NM_001303256.3(MORC2):c.1304A>T (p.Glu435Val)
|
|
|
NM_001303256.3(MORC2):c.1305G>T (p.Glu435Asp)
|
rs2040679430
|
|
NM_001303256.3(MORC2):c.1340T>G (p.Leu447Arg)
|
rs2040678770
|
|
NM_001303256.3(MORC2):c.1346A>G (p.Gln449Arg)
|
rs2040678442
|
|
NM_001303256.3(MORC2):c.1366A>G (p.Ile456Val)
|
rs1237819801
|
|
NM_001303256.3(MORC2):c.1368C>A (p.Ile456=)
|
rs777612473
|
|
NM_001303256.3(MORC2):c.1369G>A (p.Ala457Thr)
|
|
|
NM_001303256.3(MORC2):c.1379G>A (p.Gly460Glu)
|
rs1569192110
|
|
NM_001303256.3(MORC2):c.1381A>G (p.Ile461Val)
|
rs2147255910
|
|
NM_001303256.3(MORC2):c.1430A>T (p.Gln477Leu)
|
|
|
NM_001303256.3(MORC2):c.1446G>T (p.Glu482Asp)
|
rs897870181
|
|
NM_001303256.3(MORC2):c.1459C>T (p.Arg487Cys)
|
|
|
NM_001303256.3(MORC2):c.1462C>T (p.Arg488Trp)
|
rs1356503784
|
|
NM_001303256.3(MORC2):c.1466G>A (p.Arg489Lys)
|
rs1602485184
|
|
NM_001303256.3(MORC2):c.1468G>A (p.Ala490Thr)
|
rs1569192031
|
|
NM_001303256.3(MORC2):c.1531C>T (p.Gln511Ter)
|
|
|
NM_001303256.3(MORC2):c.1532A>G (p.Gln511Arg)
|
rs2040663423
|
|
NM_001303256.3(MORC2):c.1541C>G (p.Ser514Cys)
|
rs1407971807
|
|
NM_001303256.3(MORC2):c.1558C>T (p.Pro520Ser)
|
rs1555938391
|
|
NM_001303256.3(MORC2):c.1565C>T (p.Thr522Ile)
|
rs778121452
|
|
NM_001303256.3(MORC2):c.1569G>A (p.Trp523Ter)
|
rs2147253941
|
|
NM_001303256.3(MORC2):c.1576T>C (p.Ser526Pro)
|
|
|
NM_001303256.3(MORC2):c.158-5T>A
|
|
|
NM_001303256.3(MORC2):c.158-5T>G
|
rs764556739
|
|
NM_001303256.3(MORC2):c.158-8T>C
|
|
|
NM_001303256.3(MORC2):c.1586C>A (p.Pro529His)
|
|
|
NM_001303256.3(MORC2):c.1592C>G (p.Pro531Arg)
|
|
|
NM_001303256.3(MORC2):c.160A>G (p.Arg54Gly)
|
|
|
NM_001303256.3(MORC2):c.1626G>T (p.Lys542Asn)
|
rs2040655936
|
|
NM_001303256.3(MORC2):c.16T>G (p.Tyr6Asp)
|
|
|
NM_001303256.3(MORC2):c.1723C>A (p.Leu575Met)
|
rs2040654543
|
|
NM_001303256.3(MORC2):c.1727A>C (p.Glu576Ala)
|
rs2147252673
|
|
NM_001303256.3(MORC2):c.1729G>T (p.Ala577Ser)
|
rs756912389
|
|
NM_001303256.3(MORC2):c.172C>G (p.Leu58Val)
|
rs760345377
|
|
NM_001303256.3(MORC2):c.1738-17T>A
|
|
|
NM_001303256.3(MORC2):c.1747C>A (p.Pro583Thr)
|
rs770774096
|
|
NM_001303256.3(MORC2):c.1804T>A (p.Ser602Thr)
|
|
|
NM_001303256.3(MORC2):c.1812+5dup
|
|
|
NM_001303256.3(MORC2):c.1813-3T>A
|
rs1825781520
|
|
NM_001303256.3(MORC2):c.1813-6T>G
|
|
|
NM_001303256.3(MORC2):c.1817C>T (p.Pro606Leu)
|
rs1602482166
|
|
NM_001303256.3(MORC2):c.1822C>T (p.Arg608Cys)
|
rs373963382
|
|
NM_001303256.3(MORC2):c.1828C>T (p.Pro610Ser)
|
|
|
NM_001303256.3(MORC2):c.1832A>G (p.Gln611Arg)
|
rs751657222
|
|
NM_001303256.3(MORC2):c.1859dup (p.Val621fs)
|
rs1569190645
|
|
NM_001303256.3(MORC2):c.1909C>A (p.Pro637Thr)
|
rs777740636
|
|
NM_001303256.3(MORC2):c.190C>G (p.Leu64Val)
|
rs2147286618
|
|
NM_001303256.3(MORC2):c.1918C>G (p.Gln640Glu)
|
rs1602481898
|
|
NM_001303256.3(MORC2):c.1956G>C (p.Lys652Asn)
|
rs763542037
|
|
NM_001303256.3(MORC2):c.1960C>T (p.Pro654Ser)
|
|
|
NM_001303256.3(MORC2):c.1972G>A (p.Ala658Thr)
|
|
|
NM_001303256.3(MORC2):c.1976G>A (p.Arg659Gln)
|
rs769791429
|
|
NM_001303256.3(MORC2):c.1976G>C (p.Arg659Pro)
|
rs769791429
|
|
NM_001303256.3(MORC2):c.1984G>A (p.Ala662Thr)
|
|
|
NM_001303256.3(MORC2):c.1988G>A (p.Ser663Asn)
|
rs2147248609
|
|
NM_001303256.3(MORC2):c.19A>G (p.Ser7Gly)
|
|
|
NM_001303256.3(MORC2):c.2009C>T (p.Pro670Leu)
|
rs747230744
|
|
NM_001303256.3(MORC2):c.2023C>G (p.Arg675Gly)
|
|
|
NM_001303256.3(MORC2):c.2023C>T (p.Arg675Ter)
|
|
|
NM_001303256.3(MORC2):c.2032G>A (p.Ala678Thr)
|
|
|
NM_001303256.3(MORC2):c.2038A>G (p.Thr680Ala)
|
rs2040630159
|
|
NM_001303256.3(MORC2):c.2072_2074delinsACC (p.Leu691_Val692delinsHisLeu)
|
rs2147248271
|
|
NM_001303256.3(MORC2):c.2076GCA[1] (p.Gln694del)
|
rs2147248245
|
|
NM_001303256.3(MORC2):c.2119C>G (p.Arg707Gly)
|
|
|
NM_001303256.3(MORC2):c.2122G>A (p.Glu708Lys)
|
|
|
NM_001303256.3(MORC2):c.2134C>T (p.Pro712Ser)
|
|
|
NM_001303256.3(MORC2):c.2138A>G (p.Lys713Arg)
|
|
|
NM_001303256.3(MORC2):c.2176C>G (p.Pro726Ala)
|
rs2040627406
|
|
NM_001303256.3(MORC2):c.2179A>G (p.Ile727Val)
|
rs1602481313
|
|
NM_001303256.3(MORC2):c.2193G>A (p.Pro731=)
|
|
|
NM_001303256.3(MORC2):c.219G>A (p.Met73Ile)
|
|
|
NM_001303256.3(MORC2):c.2213G>A (p.Arg738Gln)
|
|
|
NM_001303256.3(MORC2):c.221A>G (p.Asp74Gly)
|
rs1555942389
|
|
NM_001303256.3(MORC2):c.2221G>A (p.Ala741Thr)
|
|
|
NM_001303256.3(MORC2):c.223C>T (p.Pro75Ser)
|
|
|
NM_001303256.3(MORC2):c.2247GGA[1] (p.Glu751del)
|
rs1247915167
|
|
NM_001303256.3(MORC2):c.2267A>C (p.Lys756Thr)
|
rs2040618367
|
|
NM_001303256.3(MORC2):c.2282G>A (p.Arg761Gln)
|
rs754626172
|
|
NM_001303256.3(MORC2):c.2290T>C (p.Phe764Leu)
|
|
|
NM_001303256.3(MORC2):c.2291T>A (p.Phe764Tyr)
|
|
|
NM_001303256.3(MORC2):c.2325+18G>C
|
|
|
NM_001303256.3(MORC2):c.2326-11T>A
|
|
|
NM_001303256.3(MORC2):c.2326C>T (p.Leu776Phe)
|
|
|
NM_001303256.3(MORC2):c.2329T>C (p.Ser777Pro)
|
|
|
NM_001303256.3(MORC2):c.2346A>C (p.Glu782Asp)
|
rs751495570
|
|
NM_001303256.3(MORC2):c.2361C>A (p.Asp787Glu)
|
rs766384151
|
|
NM_001303256.3(MORC2):c.2372C>G (p.Ala791Gly)
|
|
|
NM_001303256.3(MORC2):c.2379A>C (p.Lys793Asn)
|
|
|
NM_001303256.3(MORC2):c.2379A>T (p.Lys793Asn)
|
rs2040606407
|
|
NM_001303256.3(MORC2):c.2380+6C>G
|
rs1555936909
|
|
NM_001303256.3(MORC2):c.2386G>A (p.Gly796Arg)
|
|
|
NM_001303256.3(MORC2):c.239G>A (p.Ser80Asn)
|
rs2040863533
|
|
NM_001303256.3(MORC2):c.2405G>A (p.Arg802His)
|
|
|
NM_001303256.3(MORC2):c.2423A>G (p.Tyr808Cys)
|
|
|
NM_001303256.3(MORC2):c.2431C>T (p.Arg811Cys)
|
|
|
NM_001303256.3(MORC2):c.2443G>T (p.Val815Leu)
|
|
|
NM_001303256.3(MORC2):c.2452G>A (p.Gly818Ser)
|
rs2040597405
|
|
NM_001303256.3(MORC2):c.2454C>T (p.Gly818=)
|
|
|
NM_001303256.3(MORC2):c.2456A>C (p.Lys819Thr)
|
|
|
NM_001303256.3(MORC2):c.2464G>T (p.Val822Leu)
|
rs2040597232
|
|
NM_001303256.3(MORC2):c.2468G>A (p.Arg823Gln)
|
rs764479914
|
|
NM_001303256.3(MORC2):c.2522+17G>C
|
|
|
NM_001303256.3(MORC2):c.2522+3A>G
|
rs2040596380
|
|
NM_001303256.3(MORC2):c.2596C>T (p.Gln866Ter)
|
|
|
NM_001303256.3(MORC2):c.2610G>C (p.Glu870Asp)
|
|
|
NM_001303256.3(MORC2):c.2617G>C (p.Val873Leu)
|
rs138350528
|
|
NM_001303256.3(MORC2):c.2630C>T (p.Ala877Val)
|
rs1602477856
|
|
NM_001303256.3(MORC2):c.2635C>G (p.Gln879Glu)
|
rs1399798893
|
|
NM_001303256.3(MORC2):c.2644G>C (p.Ala882Pro)
|
|
|
NM_001303256.3(MORC2):c.2666C>T (p.Ser889Phe)
|
|
|
NM_001303256.3(MORC2):c.2678G>C (p.Arg893Pro)
|
|
|
NM_001303256.3(MORC2):c.2680A>G (p.Ile894Val)
|
|
|
NM_001303256.3(MORC2):c.2684A>G (p.Glu895Gly)
|
|
|
NM_001303256.3(MORC2):c.2698G>T (p.Ala900Ser)
|
rs1555936530
|
|
NM_001303256.3(MORC2):c.269G>A (p.Arg90Gln)
|
|
|
NM_001303256.3(MORC2):c.2719A>T (p.Thr907Ser)
|
rs2147240880
|
|
NM_001303256.3(MORC2):c.2734G>T (p.Val912Phe)
|
rs1569188333
|
|
NM_001303256.3(MORC2):c.2738A>G (p.Gln913Arg)
|
|
|
NM_001303256.3(MORC2):c.2747+4del
|
|
|
NM_001303256.3(MORC2):c.2747G>A (p.Arg916Gln)
|
|
|
NM_001303256.3(MORC2):c.2748-3T>C
|
rs1602477344
|
|
NM_001303256.3(MORC2):c.2748-6_2748-4del
|
rs1407551364
|
|
NM_001303256.3(MORC2):c.2759G>A (p.Arg920Gln)
|
rs762057484
|
|
NM_001303256.3(MORC2):c.2779T>C (p.Phe927Leu)
|
|
|
NM_001303256.3(MORC2):c.2796G>T (p.Lys932Asn)
|
rs1413895387
|
|
NM_001303256.3(MORC2):c.2798A>C (p.Gln933Pro)
|
rs2147240279
|
|
NM_001303256.3(MORC2):c.2813A>G (p.Asn938Ser)
|
rs1349107983
|
|
NM_001303256.3(MORC2):c.2827A>G (p.Ile943Val)
|
|
|
NM_001303256.3(MORC2):c.284C>T (p.Thr95Ile)
|
|
|
NM_001303256.3(MORC2):c.2852T>G (p.Phe951Cys)
|
|
|
NM_001303256.3(MORC2):c.2902C>T (p.Arg968Cys)
|
|
|
NM_001303256.3(MORC2):c.2912C>T (p.Ser971Phe)
|
|
|
NM_001303256.3(MORC2):c.2915G>A (p.Arg972Gln)
|
rs1278082078
|
|
NM_001303256.3(MORC2):c.2950G>A (p.Glu984Lys)
|
|
|
NM_001303256.3(MORC2):c.2968A>C (p.Thr990Pro)
|
|
|
NM_001303256.3(MORC2):c.2974_2979del (p.Glu992_Lys993del)
|
rs2040516792
|
|
NM_001303256.3(MORC2):c.3007G>A (p.Ala1003Thr)
|
|
|
NM_001303256.3(MORC2):c.3008C>T (p.Ala1003Val)
|
|
|
NM_001303256.3(MORC2):c.3024G>A (p.Val1008=)
|
|
|
NM_001303256.3(MORC2):c.3046A>G (p.Thr1016Ala)
|
|
|
NM_001303256.3(MORC2):c.3064G>A (p.Ala1022Thr)
|
|
|
NM_001303256.3(MORC2):c.3082A>G (p.Ile1028Val)
|
|
|
NM_001303256.3(MORC2):c.318G>A (p.Ser106=)
|
|
|
NM_001303256.3(MORC2):c.325A>G (p.Met109Val)
|
|
|
NM_001303256.3(MORC2):c.326T>C (p.Met109Thr)
|
|
|
NM_001303256.3(MORC2):c.335G>A (p.Gly112Glu)
|
|
|
NM_001303256.3(MORC2):c.347T>C (p.Ile116Thr)
|
rs2040817042
|
|
NM_001303256.3(MORC2):c.355A>G (p.Thr119Ala)
|
rs748216749
|
|
NM_001303256.3(MORC2):c.35C>G (p.Ala12Gly)
|
|
|
NM_001303256.3(MORC2):c.361A>G (p.Lys121Glu)
|
rs2040816732
|
|
NM_001303256.3(MORC2):c.398C>T (p.Thr133Met)
|
|
|
NM_001303256.3(MORC2):c.419T>C (p.Ile140Thr)
|
|
|
NM_001303256.3(MORC2):c.427-3C>T
|
|
|
NM_001303256.3(MORC2):c.439C>G (p.Leu147Val)
|
|
|
NM_001303256.3(MORC2):c.464G>A (p.Arg155Gln)
|
|
|
NM_001303256.3(MORC2):c.480C>A (p.Asp160Glu)
|
|
|
NM_001303256.3(MORC2):c.518A>G (p.Tyr173Cys)
|
|
|
NM_001303256.3(MORC2):c.530C>T (p.Pro177Leu)
|
rs2147267049
|
|
NM_001303256.3(MORC2):c.539C>G (p.Thr180Ser)
|
rs1344522060
|
|
NM_001303256.3(MORC2):c.560A>T (p.Gln187Leu)
|
|
|
NM_001303256.3(MORC2):c.564T>G (p.Phe188Leu)
|
rs1569195312
|
|
NM_001303256.3(MORC2):c.566T>C (p.Met189Thr)
|
rs1555940315
|
|
NM_001303256.3(MORC2):c.585C>T (p.Ser195=)
|
rs751813402
|
|
NM_001303256.3(MORC2):c.587-3C>T
|
|
|
NM_001303256.3(MORC2):c.595G>A (p.Val199Met)
|
rs752850286
|
|
NM_001303256.3(MORC2):c.603C>T (p.Ile201=)
|
|
|
NM_001303256.3(MORC2):c.619A>G (p.Met207Val)
|
|
|
NM_001303256.3(MORC2):c.633G>C (p.Glu211Asp)
|
rs1049739010
|
|
NM_001303256.3(MORC2):c.658C>T (p.Pro220Ser)
|
|
|
NM_001303256.3(MORC2):c.671A>G (p.Gln224Arg)
|
|
|
NM_001303256.3(MORC2):c.672G>T (p.Gln224His)
|
rs893153652
|
|
NM_001303256.3(MORC2):c.68+4A>C
|
|
|
NM_001303256.3(MORC2):c.700A>G (p.Lys234Glu)
|
rs199928683
|
|
NM_001303256.3(MORC2):c.704del (p.Pro235fs)
|
rs2040742194
|
|
NM_001303256.3(MORC2):c.706G>C (p.Glu236Gln)
|
|
|
NM_001303256.3(MORC2):c.712C>A (p.Arg238Ser)
|
rs371713427
|
|
NM_001303256.3(MORC2):c.713G>A (p.Arg238His)
|
rs367766290
|
|
NM_001303256.3(MORC2):c.713G>T (p.Arg238Leu)
|
rs367766290
|
|
NM_001303256.3(MORC2):c.721C>T (p.Arg241Cys)
|
|
|
NM_001303256.3(MORC2):c.722G>A (p.Arg241His)
|
|
|
NM_001303256.3(MORC2):c.728A>G (p.Tyr243Cys)
|
|
|
NM_001303256.3(MORC2):c.733G>A (p.Ala245Thr)
|
|
|
NM_001303256.3(MORC2):c.800T>G (p.Leu267Arg)
|
rs1555939986
|
|
NM_001303256.3(MORC2):c.802T>C (p.Ser268Pro)
|
rs2040740411
|
|
NM_001303256.3(MORC2):c.892G>C (p.Val298Leu)
|
rs772766261
|
|
NM_001303256.3(MORC2):c.916G>A (p.Ala306Thr)
|
rs1320772373
|
|
NM_001303256.3(MORC2):c.931A>G (p.Ser311Gly)
|
rs1368116984
|
|
NM_001303256.3(MORC2):c.955C>T (p.Arg319Cys)
|
|
|
NM_001303256.3(MORC2):c.95_96delinsGT (p.Ala32Gly)
|
|
|
NM_001303256.3(MORC2):c.987+4A>C
|
|
|
NM_001303256.3(MORC2):c.988-2del
|
rs2147260886
|
|
NM_001303256.3(MORC2):c.988-5T>G
|
|
|
NM_001303256.3(MORC2):c.988G>A (p.Val330Met)
|
rs1390155636
|
|
NM_001303256.3(MORC2):c.988G>T (p.Val330Leu)
|
|
|
NM_001303256.3(MORC2):c.991A>G (p.Met331Val)
|
|
|
NM_001365951.3(KIF1B):c.*1_*4dup (p.Ter1817=)
|
rs2102365849
|
|
NM_001365951.3(KIF1B):c.1037+4C>T
|
rs2102222404
|
|
NM_001365951.3(KIF1B):c.1038A>G (p.Arg346=)
|
|
|
NM_001365951.3(KIF1B):c.1048C>T (p.Arg350Cys)
|
rs1649205873
|
|
NM_001365951.3(KIF1B):c.1049G>A (p.Arg350His)
|
|
|
NM_001365951.3(KIF1B):c.1051G>T (p.Ala351Ser)
|
|
|
NM_001365951.3(KIF1B):c.1055A>C (p.Lys352Thr)
|
|
|
NM_001365951.3(KIF1B):c.1064A>C (p.Lys355Thr)
|
|
|
NM_001365951.3(KIF1B):c.1075G>C (p.Val359Leu)
|
|
|
NM_001365951.3(KIF1B):c.1075G>T (p.Val359Phe)
|
rs1437891155
|
|
NM_001365951.3(KIF1B):c.107G>A (p.Ser36Asn)
|
|
|
NM_001365951.3(KIF1B):c.1082A>G (p.Asn361Ser)
|
|
|
NM_001365951.3(KIF1B):c.1109G>A (p.Arg370His)
|
rs764203468
|
|
NM_001365951.3(KIF1B):c.1130C>T (p.Thr377Ile)
|
rs1372224953
|
|
NM_001365951.3(KIF1B):c.1132C>T (p.Arg378Trp)
|
|
|
NM_001365951.3(KIF1B):c.1145T>G (p.Leu382Arg)
|
|
|
NM_001365951.3(KIF1B):c.1179T>C (p.Asp393=)
|
rs1060501914
|
|
NM_001365951.3(KIF1B):c.1298C>G (p.Thr433Arg)
|
|
|
NM_001365951.3(KIF1B):c.1300G>A (p.Ala434Thr)
|
|
|
NM_001365951.3(KIF1B):c.1304C>T (p.Ser435Phe)
|
|
|
NM_001365951.3(KIF1B):c.1308G>T (p.Met436Ile)
|
|
|
NM_001365951.3(KIF1B):c.1319C>G (p.Thr440Ser)
|
rs1649455397
|
|
NM_001365951.3(KIF1B):c.1328C>T (p.Pro443Leu)
|
|
|
NM_001365951.3(KIF1B):c.1345A>G (p.Ser449Gly)
|
|
|
NM_001365951.3(KIF1B):c.1346G>T (p.Ser449Ile)
|
|
|
NM_001365951.3(KIF1B):c.1354G>A (p.Val452Met)
|
|
|
NM_001365951.3(KIF1B):c.135A>C (p.Glu45Asp)
|
|
|
NM_001365951.3(KIF1B):c.1362G>C (p.Leu454Phe)
|
rs2102232805
|
|
NM_001365951.3(KIF1B):c.1364C>A (p.Thr455Lys)
|
|
|
NM_001365951.3(KIF1B):c.1369G>A (p.Val457Met)
|
rs1649459479
|
|
NM_001365951.3(KIF1B):c.137C>T (p.Ala46Val)
|
rs770626277
|
|
NM_001365951.3(KIF1B):c.1415A>G (p.Glu472Gly)
|
|
|
NM_001365951.3(KIF1B):c.1417G>A (p.Ala473Thr)
|
|
|
NM_001365951.3(KIF1B):c.1427G>A (p.Arg476His)
|
|
|
NM_001365951.3(KIF1B):c.1434+5del
|
rs1569695564
|
|
NM_001365951.3(KIF1B):c.1450A>T (p.Ile484Phe)
|
rs2102247580
|
|
NM_001365951.3(KIF1B):c.1486C>T (p.Arg496Cys)
|
|
|
NM_001365951.3(KIF1B):c.1487G>A (p.Arg496His)
|
rs1418377932
|
|
NM_001365951.3(KIF1B):c.1507A>G (p.Met503Val)
|
rs1060501913
|
|
NM_001365951.3(KIF1B):c.1508T>C (p.Met503Thr)
|
|
|
NM_001365951.3(KIF1B):c.1514+6G>A
|
|
|
NM_001365951.3(KIF1B):c.1515A>G (p.Arg505=)
|
|
|
NM_001365951.3(KIF1B):c.153C>G (p.Ser51Arg)
|
|
|
NM_001365951.3(KIF1B):c.1549C>T (p.Arg517Trp)
|
|
|
NM_001365951.3(KIF1B):c.1550G>A (p.Arg517Gln)
|
|
|
NM_001365951.3(KIF1B):c.157G>A (p.Asp53Asn)
|
|
|
NM_001365951.3(KIF1B):c.1589A>G (p.Lys530Arg)
|
|
|
NM_001365951.3(KIF1B):c.1590+4G>C
|
rs2102249437
|
|
NM_001365951.3(KIF1B):c.1590+5G>A
|
|
|
NM_001365951.3(KIF1B):c.1590+6A>G
|
|
|
NM_001365951.3(KIF1B):c.1591-11A>G
|
|
|
NM_001365951.3(KIF1B):c.1612A>G (p.Asn538Asp)
|
rs1569742672
|
|
NM_001365951.3(KIF1B):c.161A>G (p.Tyr54Cys)
|
|
|
NM_001365951.3(KIF1B):c.1671-3C>A
|
|
|
NM_001365951.3(KIF1B):c.1671-3C>G
|
rs1302986414
|
|
NM_001365951.3(KIF1B):c.1671G>T (p.Arg557Ser)
|
|
|
NM_001365951.3(KIF1B):c.1694G>A (p.Arg565Gln)
|
|
|
NM_001365951.3(KIF1B):c.1697G>T (p.Arg566Leu)
|
rs751881065
|
|
NM_001365951.3(KIF1B):c.1717G>A (p.Gly573Arg)
|
|
|
NM_001365951.3(KIF1B):c.1720G>A (p.Ala574Thr)
|
|
|
NM_001365951.3(KIF1B):c.1720G>C (p.Ala574Pro)
|
rs749223318
|
|
NM_001365951.3(KIF1B):c.1731A>G (p.Lys577=)
|
|
|
NM_001365951.3(KIF1B):c.1751G>A (p.Arg584Gln)
|
|
|
NM_001365951.3(KIF1B):c.1768A>G (p.Ser590Gly)
|
|
|
NM_001365951.3(KIF1B):c.1770C>G (p.Ser590Arg)
|
rs139764209
|
|
NM_001365951.3(KIF1B):c.1772G>T (p.Gly591Val)
|
|
|
NM_001365951.3(KIF1B):c.1777+1G>T
|
|
|
NM_001365951.3(KIF1B):c.1777+5G>C
|
|
|
NM_001365951.3(KIF1B):c.1778T>A (p.Val593Asp)
|
rs1462866416
|
|
NM_001365951.3(KIF1B):c.1780A>G (p.Ile594Val)
|
rs1650274413
|
|
NM_001365951.3(KIF1B):c.1783G>A (p.Val595Met)
|
|
|
NM_001365951.3(KIF1B):c.1786A>G (p.Thr596Ala)
|
|
|
NM_001365951.3(KIF1B):c.1787C>T (p.Thr596Ile)
|
|
|
NM_001365951.3(KIF1B):c.1801G>C (p.Glu601Gln)
|
|
|
NM_001365951.3(KIF1B):c.1802A>G (p.Glu601Gly)
|
rs2102258159
|
|
NM_001365951.3(KIF1B):c.1805G>A (p.Arg602His)
|
|
|
NM_001365951.3(KIF1B):c.1819G>A (p.Val607Ile)
|
|
|
NM_001365951.3(KIF1B):c.183A>G (p.Ser61=)
|
rs756935623
|
|
NM_001365951.3(KIF1B):c.1840C>A (p.Gln614Lys)
|
|
|
NM_001365951.3(KIF1B):c.1844C>G (p.Pro615Arg)
|
|
|
NM_001365951.3(KIF1B):c.1856G>A (p.Arg619His)
|
|
|
NM_001365951.3(KIF1B):c.185C>G (p.Pro62Arg)
|
rs1262165101
|
|
NM_001365951.3(KIF1B):c.1861+3G>A
|
|
|
NM_001365951.3(KIF1B):c.1862-1_1881dup
|
|
|
NM_001365951.3(KIF1B):c.1865A>C (p.Asn622Thr)
|
|
|
NM_001365951.3(KIF1B):c.1868G>A (p.Arg623His)
|
rs1650293838
|
|
NM_001365951.3(KIF1B):c.1876A>G (p.Met626Val)
|
rs1391371944
|
|
NM_001365951.3(KIF1B):c.1892T>C (p.Val631Ala)
|
|
|
NM_001365951.3(KIF1B):c.1906C>G (p.His636Asp)
|
rs772578159
|
|
NM_001365951.3(KIF1B):c.1909C>G (p.Pro637Ala)
|
|
|
NM_001365951.3(KIF1B):c.1921C>T (p.Arg641Ter)
|
rs1650296802
|
|
NM_001365951.3(KIF1B):c.1925C>T (p.Ala642Val)
|
|
|
NM_001365951.3(KIF1B):c.1934A>G (p.Glu645Gly)
|
|
|
NM_001365951.3(KIF1B):c.1940C>T (p.Thr647Ile)
|
rs1178666545
|
|
NM_001365951.3(KIF1B):c.1942C>T (p.Pro648Ser)
|
rs2102259084
|
|
NM_001365951.3(KIF1B):c.1945_1947del (p.Ser649del)
|
rs766127664
|
|
NM_001365951.3(KIF1B):c.194C>A (p.Pro65His)
|
|
|
NM_001365951.3(KIF1B):c.1955C>A (p.Thr652Asn)
|
rs142881321
|
|
NM_001365951.3(KIF1B):c.1958C>G (p.Pro653Arg)
|
|
|
NM_001365951.3(KIF1B):c.1969G>A (p.Val657Met)
|
|
|
NM_001365951.3(KIF1B):c.2069A>G (p.Lys690Arg)
|
rs2102259539
|
|
NM_001365951.3(KIF1B):c.2126G>A (p.Ser709Asn)
|
|
|
NM_001365951.3(KIF1B):c.2159C>G (p.Thr720Ser)
|
|
|
NM_001365951.3(KIF1B):c.2162G>A (p.Arg721Gln)
|
|
|
NM_001365951.3(KIF1B):c.2170G>T (p.Ala724Ser)
|
|
|
NM_001365951.3(KIF1B):c.2176G>A (p.Glu726Lys)
|
|
|
NM_001365951.3(KIF1B):c.2190GGA[1] (p.Glu736del)
|
rs770689187
|
|
NM_001365951.3(KIF1B):c.2192AGGAAGAAG[1] (p.Glu734_Glu736del)
|
rs1187447780
|
|
NM_001365951.3(KIF1B):c.2255G>A (p.Arg752Gln)
|
|
|
NM_001365951.3(KIF1B):c.2265G>C (p.Lys755Asn)
|
|
|
NM_001365951.3(KIF1B):c.2269C>T (p.His757Tyr)
|
|
|
NM_001365951.3(KIF1B):c.2273A>G (p.Gln758Arg)
|
|
|
NM_001365951.3(KIF1B):c.2281T>G (p.Ser761Ala)
|
rs1651532692
|
|
NM_001365951.3(KIF1B):c.2296C>T (p.Leu766Phe)
|
|
|
NM_001365951.3(KIF1B):c.229A>G (p.Ile77Val)
|
|
|
NM_001365951.3(KIF1B):c.2303G>A (p.Gly768Asp)
|
rs2102296302
|
|
NM_001365951.3(KIF1B):c.2311G>A (p.Val771Met)
|
|
|
NM_001365951.3(KIF1B):c.2358+1G>A
|
rs1651536655
|
|
NM_001365951.3(KIF1B):c.2358G>C (p.Lys786Asn)
|
|
|
NM_001365951.3(KIF1B):c.2359G>A (p.Val787Met)
|
|
|
NM_001365951.3(KIF1B):c.2363A>G (p.Gln788Arg)
|
|
|
NM_001365951.3(KIF1B):c.2368C>G (p.Gln790Glu)
|
|
|
NM_001365951.3(KIF1B):c.236A>G (p.Lys79Arg)
|
rs1647931694
|
|
NM_001365951.3(KIF1B):c.2384C>G (p.Thr795Ser)
|
rs2102298851
|
|
NM_001365951.3(KIF1B):c.2390C>T (p.Thr797Ile)
|
rs767564247
|
|
NM_001365951.3(KIF1B):c.2392C>G (p.Leu798Val)
|
|
|
NM_001365951.3(KIF1B):c.2393T>C (p.Leu798Pro)
|
rs1651619133
|
|
NM_001365951.3(KIF1B):c.2399C>A (p.Ser800Tyr)
|
rs1651619501
|
|
NM_001365951.3(KIF1B):c.2399C>T (p.Ser800Phe)
|
|
|
NM_001365951.3(KIF1B):c.23T>C (p.Val8Ala)
|
|
|
NM_001365951.3(KIF1B):c.2422C>T (p.Pro808Ser)
|
|
|
NM_001365951.3(KIF1B):c.2437A>G (p.Lys813Glu)
|
|
|
NM_001365951.3(KIF1B):c.2444A>G (p.His815Arg)
|
|
|
NM_001365951.3(KIF1B):c.2464C>T (p.Arg822Cys)
|
|
|
NM_001365951.3(KIF1B):c.2472G>A (p.Val824=)
|
rs2102299017
|
|
NM_001365951.3(KIF1B):c.2479G>A (p.Val827Ile)
|
|
|
NM_001365951.3(KIF1B):c.2495T>G (p.Leu832Trp)
|
|
|
NM_001365951.3(KIF1B):c.2504G>A (p.Gly835Glu)
|
rs2102299042
|
|
NM_001365951.3(KIF1B):c.2538-3T>C
|
|
|
NM_001365951.3(KIF1B):c.2563A>T (p.Met855Leu)
|
rs781647232
|
|
NM_001365951.3(KIF1B):c.2564T>A (p.Met855Lys)
|
|
|
NM_001365951.3(KIF1B):c.2564T>C (p.Met855Thr)
|
|
|
NM_001365951.3(KIF1B):c.2581G>A (p.Glu861Lys)
|
|
|
NM_001365951.3(KIF1B):c.2584A>C (p.Met862Leu)
|
|
|
NM_001365951.3(KIF1B):c.2584A>G (p.Met862Val)
|
rs1345626148
|
|
NM_001365951.3(KIF1B):c.2588C>T (p.Ala863Val)
|
|
|
NM_001365951.3(KIF1B):c.2590T>A (p.Ser864Thr)
|
|
|
NM_001365951.3(KIF1B):c.2594G>A (p.Ser865Asn)
|
|
|
NM_001365951.3(KIF1B):c.2609G>A (p.Ser870Asn)
|
rs1553167616
|
|
NM_001365951.3(KIF1B):c.2613A>C (p.Glu871Asp)
|
|
|
NM_001365951.3(KIF1B):c.2615C>G (p.Thr872Ser)
|
|
|
NM_001365951.3(KIF1B):c.2617A>C (p.Thr873Pro)
|
|
|
NM_001365951.3(KIF1B):c.2620G>A (p.Val874Met)
|
|
|
NM_001365951.3(KIF1B):c.2624C>A (p.Thr875Asn)
|
|
|
NM_001365951.3(KIF1B):c.2626G>A (p.Gly876Ser)
|
|
|
NM_001365951.3(KIF1B):c.2636C>T (p.Pro879Leu)
|
|
|
NM_001365951.3(KIF1B):c.2647C>A (p.Arg883=)
|
rs2102300290
|
|
NM_001365951.3(KIF1B):c.2647C>T (p.Arg883Trp)
|
|
|
NM_001365951.3(KIF1B):c.2653C>A (p.His885Asn)
|
rs1483652105
|
|
NM_001365951.3(KIF1B):c.2664A>G (p.Lys888=)
|
rs2102300309
|
|
NM_001365951.3(KIF1B):c.2672G>A (p.Gly891Glu)
|
|
|
NM_001365951.3(KIF1B):c.2676-3T>C
|
|
|
NM_001365951.3(KIF1B):c.2678C>T (p.Ser893Phe)
|
|
|
NM_001365951.3(KIF1B):c.2692G>A (p.Gly898Ser)
|
|
|
NM_001365951.3(KIF1B):c.2696G>A (p.Cys899Tyr)
|
|
|
NM_001365951.3(KIF1B):c.2707C>G (p.Arg903Gly)
|
rs868254486
|
|
NM_001365951.3(KIF1B):c.2708G>C (p.Arg903Pro)
|
rs778403355
|
|
NM_001365951.3(KIF1B):c.2716G>A (p.Asp906Asn)
|
rs758389718
|
|
NM_001365951.3(KIF1B):c.2716G>T (p.Asp906Tyr)
|
|
|
NM_001365951.3(KIF1B):c.2720G>A (p.Arg907His)
|
rs1651714039
|
|
NM_001365951.3(KIF1B):c.2753C>T (p.Ser918Phe)
|
|
|
NM_001365951.3(KIF1B):c.2776G>A (p.Glu926Lys)
|
|
|
NM_001365951.3(KIF1B):c.2786A>T (p.Asp929Val)
|
rs2102301786
|
|
NM_001365951.3(KIF1B):c.2837A>G (p.Asp946Gly)
|
rs2102301877
|
|
NM_001365951.3(KIF1B):c.2854G>C (p.Gly952Arg)
|
|
|
NM_001365951.3(KIF1B):c.2863C>T (p.Leu955Phe)
|
|
|
NM_001365951.3(KIF1B):c.2869A>G (p.Ser957Gly)
|
rs556117169
|
|
NM_001365951.3(KIF1B):c.2875_2883del (p.Gly959_Asp961del)
|
rs1651722145
|
|
NM_001365951.3(KIF1B):c.2876G>T (p.Gly959Val)
|
|
|
NM_001365951.3(KIF1B):c.2885C>T (p.Pro962Leu)
|
rs762619916
|
|
NM_001365951.3(KIF1B):c.2899T>A (p.Ser967Thr)
|
|
|
NM_001365951.3(KIF1B):c.2905T>C (p.Trp969Arg)
|
rs1569831309
|
|
NM_001365951.3(KIF1B):c.2918T>G (p.Val973Gly)
|
|
|
NM_001365951.3(KIF1B):c.2924+5G>A
|
|
|
NM_001365951.3(KIF1B):c.2951T>C (p.Leu984Pro)
|
|
|
NM_001365951.3(KIF1B):c.2956C>T (p.Pro986Ser)
|
|
|
NM_001365951.3(KIF1B):c.2965_2966del (p.Leu989fs)
|
|
|
NM_001365951.3(KIF1B):c.2971del (p.His991fs)
|
rs761398418
|
|
NM_001365951.3(KIF1B):c.2980G>T (p.Ala994Ser)
|
|
|
NM_001365951.3(KIF1B):c.3003A>G (p.Glu1001=)
|
rs1652092259
|
|
NM_001365951.3(KIF1B):c.3008G>A (p.Arg1003Gln)
|
|
|
NM_001365951.3(KIF1B):c.3019C>T (p.Arg1007Cys)
|
|
|
NM_001365951.3(KIF1B):c.3020G>A (p.Arg1007His)
|
rs145494902
|
|
NM_001365951.3(KIF1B):c.3020G>T (p.Arg1007Leu)
|
|
|
NM_001365951.3(KIF1B):c.3023T>C (p.Val1008Ala)
|
|
|
NM_001365951.3(KIF1B):c.3032A>G (p.Gln1011Arg)
|
|
|
NM_001365951.3(KIF1B):c.3034G>A (p.Ala1012Thr)
|
|
|
NM_001365951.3(KIF1B):c.3040G>A (p.Ala1014Thr)
|
rs772779601
|
|
NM_001365951.3(KIF1B):c.3040G>T (p.Ala1014Ser)
|
|
|
NM_001365951.3(KIF1B):c.3043+3A>T
|
rs753646018
|
|
NM_001365951.3(KIF1B):c.3044C>T (p.Ala1015Val)
|
|
|
NM_001365951.3(KIF1B):c.3046G>A (p.Asp1016Asn)
|
|
|
NM_001365951.3(KIF1B):c.3055G>A (p.Ala1019Thr)
|
|
|
NM_001365951.3(KIF1B):c.3061G>A (p.Asp1021Asn)
|
|
|
NM_001365951.3(KIF1B):c.3070T>C (p.Ser1024Pro)
|
|
|
NM_001365951.3(KIF1B):c.3079C>T (p.Arg1027Ter)
|
rs886042662
|
|
NM_001365951.3(KIF1B):c.3080G>A (p.Arg1027Gln)
|
rs2102315292
|
|
NM_001365951.3(KIF1B):c.3097A>G (p.Lys1033Glu)
|
rs1279714159
|
|
NM_001365951.3(KIF1B):c.3104C>A (p.Ser1035Tyr)
|
rs1652195142
|
|
NM_001365951.3(KIF1B):c.3112A>G (p.Asn1038Asp)
|
rs1342716199
|
|
NM_001365951.3(KIF1B):c.3125A>C (p.Asn1042Thr)
|
|
|
NM_001365951.3(KIF1B):c.3125A>G (p.Asn1042Ser)
|
rs201731199
|
|
NM_001365951.3(KIF1B):c.3153G>A (p.Met1051Ile)
|
rs368851581
|
|
NM_001365951.3(KIF1B):c.3155C>T (p.Thr1052Ile)
|
|
|
NM_001365951.3(KIF1B):c.3157C>G (p.Arg1053Gly)
|
|
|
NM_001365951.3(KIF1B):c.3158G>A (p.Arg1053His)
|
|
|
NM_001365951.3(KIF1B):c.3160T>C (p.Ser1054Pro)
|
|
|
NM_001365951.3(KIF1B):c.3161C>G (p.Ser1054Cys)
|
|
|
NM_001365951.3(KIF1B):c.3170C>G (p.Ser1057Cys)
|
|
|
NM_001365951.3(KIF1B):c.3208A>G (p.Ser1070Gly)
|
|
|
NM_001365951.3(KIF1B):c.3227C>T (p.Pro1076Leu)
|
|
|
NM_001365951.3(KIF1B):c.3233A>C (p.Glu1078Ala)
|
|
|
NM_001365951.3(KIF1B):c.3245G>C (p.Arg1082Pro)
|
|
|
NM_001365951.3(KIF1B):c.3250A>C (p.Asn1084His)
|
|
|
NM_001365951.3(KIF1B):c.3259+3A>G
|
|
|
NM_001365951.3(KIF1B):c.3259+6T>C
|
|
|
NM_001365951.3(KIF1B):c.3266A>T (p.Lys1089Met)
|
rs1652219026
|
|
NM_001365951.3(KIF1B):c.3284A>C (p.Asp1095Ala)
|
|
|
NM_001365951.3(KIF1B):c.3323_3324delinsCA (p.Gly1108Ala)
|
|
|
NM_001365951.3(KIF1B):c.3334A>G (p.Lys1112Glu)
|
|
|
NM_001365951.3(KIF1B):c.333A>G (p.Gln111=)
|
rs2102186835
|
|
NM_001365951.3(KIF1B):c.3359G>A (p.Arg1120Gln)
|
|
|
NM_001365951.3(KIF1B):c.3379A>G (p.Ser1127Gly)
|
|
|
NM_001365951.3(KIF1B):c.3380G>A (p.Ser1127Asn)
|
|
|
NM_001365951.3(KIF1B):c.3391C>T (p.Pro1131Ser)
|
rs1232790642
|
|
NM_001365951.3(KIF1B):c.3431A>G (p.His1144Arg)
|
rs777585476
|
|
NM_001365951.3(KIF1B):c.3440A>T (p.Asp1147Val)
|
|
|
NM_001365951.3(KIF1B):c.3452C>T (p.Ser1151Phe)
|
|
|
NM_001365951.3(KIF1B):c.3455C>T (p.Thr1152Met)
|
rs775773486
|
|
NM_001365951.3(KIF1B):c.3459G>T (p.Glu1153Asp)
|
|
|
NM_001365951.3(KIF1B):c.3470A>G (p.Asn1157Ser)
|
|
|
NM_001365951.3(KIF1B):c.3475G>C (p.Gly1159Arg)
|
|
|
NM_001365951.3(KIF1B):c.3479G>A (p.Arg1160Lys)
|
|
|
NM_001365951.3(KIF1B):c.3484A>G (p.Ser1162Gly)
|
|
|
NM_001365951.3(KIF1B):c.3510G>T (p.Gln1170His)
|
|
|
NM_001365951.3(KIF1B):c.3516T>G (p.Ile1172Met)
|
|
|
NM_001365951.3(KIF1B):c.352A>G (p.Ile118Val)
|
|
|
NM_001365951.3(KIF1B):c.3540T>G (p.Phe1180Leu)
|
|
|
NM_001365951.3(KIF1B):c.3576A>C (p.Glu1192Asp)
|
|
|
NM_001365951.3(KIF1B):c.3607C>A (p.His1203Asn)
|
|
|
NM_001365951.3(KIF1B):c.3610C>G (p.Leu1204Val)
|
|
|
NM_001365951.3(KIF1B):c.3620A>G (p.Gln1207Arg)
|
|
|
NM_001365951.3(KIF1B):c.3628A>G (p.Asn1210Asp)
|
|
|
NM_001365951.3(KIF1B):c.3644C>T (p.Pro1215Leu)
|
rs369255811
|
|
NM_001365951.3(KIF1B):c.3649C>G (p.Arg1217Gly)
|
|
|
NM_001365951.3(KIF1B):c.3650G>A (p.Arg1217His)
|
rs1652465916
|
|
NM_001365951.3(KIF1B):c.3655T>A (p.Phe1219Ile)
|
|
|
NM_001365951.3(KIF1B):c.3691C>T (p.Pro1231Ser)
|
|
|
NM_001365951.3(KIF1B):c.3710C>T (p.Thr1237Met)
|
|
|
NM_001365951.3(KIF1B):c.3712A>G (p.Met1238Val)
|
|
|
NM_001365951.3(KIF1B):c.3713T>C (p.Met1238Thr)
|
|
|
NM_001365951.3(KIF1B):c.3760G>A (p.Val1254Ile)
|
rs1490841470
|
|
NM_001365951.3(KIF1B):c.3764G>C (p.Trp1255Ser)
|
rs2102326792
|
|
NM_001365951.3(KIF1B):c.3776G>A (p.Ser1259Asn)
|
rs756530731
|
|
NM_001365951.3(KIF1B):c.3785A>G (p.Glu1262Gly)
|
|
|
NM_001365951.3(KIF1B):c.3798-3T>C
|
|
|
NM_001365951.3(KIF1B):c.3812T>C (p.Val1271Ala)
|
rs756516917
|
|
NM_001365951.3(KIF1B):c.3815T>C (p.Val1272Ala)
|
|
|
NM_001365951.3(KIF1B):c.3834G>T (p.Leu1278Phe)
|
|
|
NM_001365951.3(KIF1B):c.3848C>A (p.Thr1283Lys)
|
|
|
NM_001365951.3(KIF1B):c.3886G>C (p.Val1296Leu)
|
|
|
NM_001365951.3(KIF1B):c.3890C>T (p.Thr1297Ile)
|
|
|
NM_001365951.3(KIF1B):c.3892A>G (p.Ile1298Val)
|
rs529804940
|
|
NM_001365951.3(KIF1B):c.3893T>C (p.Ile1298Thr)
|
|
|
NM_001365951.3(KIF1B):c.3912C>T (p.Ser1304=)
|
|
|
NM_001365951.3(KIF1B):c.3913G>A (p.Glu1305Lys)
|
|
|
NM_001365951.3(KIF1B):c.3916C>T (p.Leu1306Phe)
|
|
|
NM_001365951.3(KIF1B):c.3927A>C (p.Lys1309Asn)
|
|
|
NM_001365951.3(KIF1B):c.3958C>T (p.Arg1320Trp)
|
|
|
NM_001365951.3(KIF1B):c.3968C>T (p.Pro1323Leu)
|
rs1279580508
|
|
NM_001365951.3(KIF1B):c.3977A>T (p.Asp1326Val)
|
rs879368394
|
|
NM_001365951.3(KIF1B):c.399C>G (p.Asn133Lys)
|
rs996589396
|
|
NM_001365951.3(KIF1B):c.400T>C (p.Cys134Arg)
|
|
|
NM_001365951.3(KIF1B):c.4046A>C (p.Asn1349Thr)
|
rs1462863753
|
|
NM_001365951.3(KIF1B):c.4052G>C (p.Ser1351Thr)
|
|
|
NM_001365951.3(KIF1B):c.4060T>C (p.Phe1354Leu)
|
|
|
NM_001365951.3(KIF1B):c.4066C>T (p.Arg1356Cys)
|
rs1231187230
|
|
NM_001365951.3(KIF1B):c.4074G>A (p.Glu1358=)
|
rs1291020748
|
|
NM_001365951.3(KIF1B):c.4076C>T (p.Ala1359Val)
|
|
|
NM_001365951.3(KIF1B):c.4094T>C (p.Leu1365Pro)
|
|
|
NM_001365951.3(KIF1B):c.4106T>G (p.Leu1369Arg)
|
rs1339145498
|
|
NM_001365951.3(KIF1B):c.4139A>T (p.Lys1380Met)
|
|
|
NM_001365951.3(KIF1B):c.4140G>T (p.Lys1380Asn)
|
|
|
NM_001365951.3(KIF1B):c.4151C>T (p.Thr1384Ile)
|
|
|
NM_001365951.3(KIF1B):c.415T>G (p.Ser139Ala)
|
|
|
NM_001365951.3(KIF1B):c.4186C>A (p.Gln1396Lys)
|
|
|
NM_001365951.3(KIF1B):c.4196T>C (p.Val1399Ala)
|
rs147043919
|
|
NM_001365951.3(KIF1B):c.4210G>A (p.Val1404Met)
|
rs1557737152
|
|
NM_001365951.3(KIF1B):c.4216A>C (p.Met1406Leu)
|
|
|
NM_001365951.3(KIF1B):c.4225T>C (p.Tyr1409His)
|
|
|
NM_001365951.3(KIF1B):c.422C>G (p.Ser141Cys)
|
rs2102194265
|
|
NM_001365951.3(KIF1B):c.4237G>A (p.Ala1413Thr)
|
rs1553170117
|
|
NM_001365951.3(KIF1B):c.4255C>T (p.Arg1419Cys)
|
|
|
NM_001365951.3(KIF1B):c.4264C>T (p.Arg1422Cys)
|
|
|
NM_001365951.3(KIF1B):c.4280G>C (p.Ser1427Thr)
|
rs755113137
|
|
NM_001365951.3(KIF1B):c.4298_4299delinsGG (p.Pro1433Arg)
|
|
|
NM_001365951.3(KIF1B):c.430-15C>G
|
|
|
NM_001365951.3(KIF1B):c.4305-2A>T
|
|
|
NM_001365951.3(KIF1B):c.4310G>A (p.Arg1437Gln)
|
|
|
NM_001365951.3(KIF1B):c.4338A>C (p.Leu1446Phe)
|
rs143112560
|
|
NM_001365951.3(KIF1B):c.4347G>A (p.Met1449Ile)
|
rs1638475945
|
|
NM_001365951.3(KIF1B):c.4366+4A>T
|
|
|
NM_001365951.3(KIF1B):c.4388A>G (p.Lys1463Arg)
|
|
|
NM_001365951.3(KIF1B):c.4390A>G (p.Ile1464Val)
|
|
|
NM_001365951.3(KIF1B):c.4405G>A (p.Val1469Met)
|
rs1638531827
|
|
NM_001365951.3(KIF1B):c.4418G>A (p.Arg1473Gln)
|
|
|
NM_001365951.3(KIF1B):c.4418G>T (p.Arg1473Leu)
|
|
|
NM_001365951.3(KIF1B):c.4421G>C (p.Gly1474Ala)
|
|
|
NM_001365951.3(KIF1B):c.4451G>A (p.Arg1484His)
|
|
|
NM_001365951.3(KIF1B):c.4457A>G (p.Asp1486Gly)
|
rs2102349923
|
|
NM_001365951.3(KIF1B):c.4466T>C (p.Ile1489Thr)
|
rs1638533756
|
|
NM_001365951.3(KIF1B):c.4501C>G (p.Leu1501Val)
|
|
|
NM_001365951.3(KIF1B):c.4548G>T (p.Glu1516Asp)
|
|
|
NM_001365951.3(KIF1B):c.4574_4575delinsAT (p.Ser1525Tyr)
|
rs1638543931
|
|
NM_001365951.3(KIF1B):c.4586C>G (p.Ser1529Trp)
|
|
|
NM_001365951.3(KIF1B):c.4586C>T (p.Ser1529Leu)
|
rs781051649
|
|
NM_001365951.3(KIF1B):c.4615C>T (p.Leu1539Phe)
|
|
|
NM_001365951.3(KIF1B):c.4627A>G (p.Thr1543Ala)
|
rs1638546150
|
|
NM_001365951.3(KIF1B):c.4644G>T (p.Gln1548His)
|
rs199611419
|
|
NM_001365951.3(KIF1B):c.4651A>G (p.Thr1551Ala)
|
|
|
NM_001365951.3(KIF1B):c.4657A>C (p.Thr1553Pro)
|
|
|
NM_001365951.3(KIF1B):c.4700A>T (p.Asp1567Val)
|
|
|
NM_001365951.3(KIF1B):c.4714G>A (p.Glu1572Lys)
|
|
|
NM_001365951.3(KIF1B):c.4723G>A (p.Val1575Met)
|
rs756027011
|
|
NM_001365951.3(KIF1B):c.4751A>C (p.Lys1584Thr)
|
|
|
NM_001365951.3(KIF1B):c.4753-3T>C
|
|
|
NM_001365951.3(KIF1B):c.4761A>G (p.Gln1587=)
|
rs960083901
|
|
NM_001365951.3(KIF1B):c.4779C>A (p.Phe1593Leu)
|
|
|
NM_001365951.3(KIF1B):c.4793G>C (p.Ser1598Thr)
|
|
|
NM_001365951.3(KIF1B):c.4804G>T (p.Gly1602Cys)
|
|
|
NM_001365951.3(KIF1B):c.4808G>A (p.Ser1603Asn)
|
|
|
NM_001365951.3(KIF1B):c.4813A>G (p.Ser1605Gly)
|
|
|
NM_001365951.3(KIF1B):c.4814G>A (p.Ser1605Asn)
|
rs978846620
|
|
NM_001365951.3(KIF1B):c.4816G>C (p.Asp1606His)
|
rs780601677
|
|
NM_001365951.3(KIF1B):c.4824+3G>A
|
rs1638638432
|
|
NM_001365951.3(KIF1B):c.4825-13G>A
|
|
|
NM_001365951.3(KIF1B):c.4834A>C (p.Ile1612Leu)
|
|
|
NM_001365951.3(KIF1B):c.4847G>A (p.Gly1616Glu)
|
rs2102358105
|
|
NM_001365951.3(KIF1B):c.4858T>C (p.Ser1620Pro)
|
|
|
NM_001365951.3(KIF1B):c.488A>G (p.Lys163Arg)
|
|
|
NM_001365951.3(KIF1B):c.4895C>T (p.Ser1632Phe)
|
|
|
NM_001365951.3(KIF1B):c.4900A>G (p.Thr1634Ala)
|
|
|
NM_001365951.3(KIF1B):c.4904G>T (p.Cys1635Phe)
|
rs142714491
|
|
NM_001365951.3(KIF1B):c.4928G>T (p.Ser1643Ile)
|
rs2102358222
|
|
NM_001365951.3(KIF1B):c.4931A>G (p.Asn1644Ser)
|
|
|
NM_001365951.3(KIF1B):c.4939G>A (p.Asp1647Asn)
|
rs2102358247
|
|
NM_001365951.3(KIF1B):c.4952C>G (p.Pro1651Arg)
|
|
|
NM_001365951.3(KIF1B):c.4988A>C (p.Glu1663Ala)
|
rs1638827878
|
|
NM_001365951.3(KIF1B):c.4999T>C (p.Phe1667Leu)
|
|
|
NM_001365951.3(KIF1B):c.49T>C (p.Ser17Pro)
|
|
|
NM_001365951.3(KIF1B):c.500G>A (p.Arg167His)
|
rs2102205265
|
|
NM_001365951.3(KIF1B):c.5024C>T (p.Thr1675Ile)
|
|
|
NM_001365951.3(KIF1B):c.5079T>G (p.Ile1693Met)
|
rs752044197
|
|
NM_001365951.3(KIF1B):c.5080G>A (p.Glu1694Lys)
|
|
|
NM_001365951.3(KIF1B):c.5092C>G (p.Pro1698Ala)
|
|
|
NM_001365951.3(KIF1B):c.5095A>G (p.Ser1699Gly)
|
|
|
NM_001365951.3(KIF1B):c.5099C>T (p.Ser1700Leu)
|
|
|
NM_001365951.3(KIF1B):c.5118A>G (p.Gly1706=)
|
|
|
NM_001365951.3(KIF1B):c.5137C>G (p.Pro1713Ala)
|
rs755893509
|
|
NM_001365951.3(KIF1B):c.514C>A (p.Pro172Thr)
|
|
|
NM_001365951.3(KIF1B):c.5156C>T (p.Ala1719Val)
|
rs2102363299
|
|
NM_001365951.3(KIF1B):c.5176C>G (p.Arg1726Gly)
|
|
|
NM_001365951.3(KIF1B):c.5185T>C (p.Tyr1729His)
|
|
|
NM_001365951.3(KIF1B):c.5189T>C (p.Val1730Ala)
|
|
|
NM_001365951.3(KIF1B):c.5198A>G (p.Tyr1733Cys)
|
|
|
NM_001365951.3(KIF1B):c.5208C>A (p.Asp1736Glu)
|
rs749483779
|
|
NM_001365951.3(KIF1B):c.520C>T (p.Leu174Phe)
|
rs1648530496
|
|
NM_001365951.3(KIF1B):c.5236A>C (p.Asn1746His)
|
rs556099463
|
|
NM_001365951.3(KIF1B):c.5251C>T (p.Gln1751Ter)
|
rs2102363451
|
|
NM_001365951.3(KIF1B):c.5260T>G (p.Tyr1754Asp)
|
rs1361142669
|
|
NM_001365951.3(KIF1B):c.5277G>A (p.Gln1759=)
|
|
|
NM_001365951.3(KIF1B):c.5277G>C (p.Gln1759His)
|
|
|
NM_001365951.3(KIF1B):c.5278G>A (p.Ala1760Thr)
|
|
|
NM_001365951.3(KIF1B):c.5286G>A (p.Val1762=)
|
|
|
NM_001365951.3(KIF1B):c.5290-3C>T
|
|
|
NM_001365951.3(KIF1B):c.5293C>G (p.Pro1765Ala)
|
|
|
NM_001365951.3(KIF1B):c.5294C>T (p.Pro1765Leu)
|
rs1638850153
|
|
NM_001365951.3(KIF1B):c.5303T>G (p.Phe1768Cys)
|
|
|
NM_001365951.3(KIF1B):c.5322C>G (p.His1774Gln)
|
rs1638851135
|
|
NM_001365951.3(KIF1B):c.5324G>T (p.Arg1775Leu)
|
|
|
NM_001365951.3(KIF1B):c.5356G>A (p.Asp1786Asn)
|
|
|
NM_001365951.3(KIF1B):c.5386C>A (p.Pro1796Thr)
|
|
|
NM_001365951.3(KIF1B):c.5398G>A (p.Gly1800Ser)
|
|
|
NM_001365951.3(KIF1B):c.5408+6A>C
|
|
|
NM_001365951.3(KIF1B):c.5408G>A (p.Arg1803Gln)
|
|
|
NM_001365951.3(KIF1B):c.5431C>A (p.Pro1811Thr)
|
|
|
NM_001365951.3(KIF1B):c.5441C>T (p.Ser1814Leu)
|
rs761319935
|
|
NM_001365951.3(KIF1B):c.551T>C (p.Leu184Ser)
|
|
|
NM_001365951.3(KIF1B):c.554C>T (p.Ala185Val)
|
|
|
NM_001365951.3(KIF1B):c.560C>G (p.Thr187Ser)
|
|
|
NM_001365951.3(KIF1B):c.586A>G (p.Met196Val)
|
rs2102205493
|
|
NM_001365951.3(KIF1B):c.608+3A>G
|
|
|
NM_001365951.3(KIF1B):c.655G>T (p.Ala219Ser)
|
|
|
NM_001365951.3(KIF1B):c.662T>G (p.Phe221Cys)
|
rs1648577899
|
|
NM_001365951.3(KIF1B):c.665C>T (p.Thr222Met)
|
rs2102206895
|
|
NM_001365951.3(KIF1B):c.691G>T (p.Asp231Tyr)
|
rs760067826
|
|
NM_001365951.3(KIF1B):c.692A>G (p.Asp231Gly)
|
|
|
NM_001365951.3(KIF1B):c.704A>G (p.Asn235Ser)
|
|
|
NM_001365951.3(KIF1B):c.715G>A (p.Glu239Lys)
|
|
|
NM_001365951.3(KIF1B):c.730A>G (p.Ile244Val)
|
|
|
NM_001365951.3(KIF1B):c.731T>C (p.Ile244Thr)
|
rs2102213204
|
|
NM_001365951.3(KIF1B):c.776G>A (p.Gly259Asp)
|
rs767229413
|
|
NM_001365951.3(KIF1B):c.783A>G (p.Lys261=)
|
rs1648800243
|
|
NM_001365951.3(KIF1B):c.79A>G (p.Ile27Val)
|
|
|
NM_001365951.3(KIF1B):c.817A>T (p.Lys273Ter)
|
|
|
NM_001365951.3(KIF1B):c.82A>C (p.Ile28Leu)
|
rs1646994908
|
|
NM_001365951.3(KIF1B):c.833T>G (p.Leu278Trp)
|
rs1648841810
|
|
NM_001365951.3(KIF1B):c.861G>C (p.Glu287Asp)
|
|
|
NM_001365951.3(KIF1B):c.87G>C (p.Gln29His)
|
rs2102129325
|
|
NM_001365951.3(KIF1B):c.887A>G (p.Lys296Arg)
|
|
|
NM_001365951.3(KIF1B):c.891GAA[2] (p.Lys300del)
|
rs1180929845
|
|
NM_001365951.3(KIF1B):c.955T>A (p.Leu319Ile)
|
|
|
NM_001365951.3(KIF1B):c.958+5G>A
|
|
|
NM_001365951.3(KIF1B):c.959-10A>G
|
|
|
NM_001365951.3(KIF1B):c.965A>G (p.Asn322Ser)
|
rs2102222233
|
|
NM_001365951.3(KIF1B):c.979A>G (p.Met327Val)
|
|
|
NM_001365951.3(KIF1B):c.985G>A (p.Ala329Thr)
|
rs2102222288
|
|
NM_001365951.3(KIF1B):c.98A>G (p.Asn33Ser)
|
|
|
NM_001370298.3(FGD4):c.1004A>G (p.Glu335Gly)
|
rs1304257221
|
|
NM_001370298.3(FGD4):c.1008G>C (p.Met336Ile)
|
rs1592295526
|
|
NM_001370298.3(FGD4):c.1051C>A (p.Leu351Ile)
|
|
|
NM_001370298.3(FGD4):c.1067G>C (p.Arg356Thr)
|
rs1211624997
|
|
NM_001370298.3(FGD4):c.1079A>C (p.Asn360Thr)
|
|
|
NM_001370298.3(FGD4):c.1082G>A (p.Arg361Gln)
|
rs903824731
|
|
NM_001370298.3(FGD4):c.1101+6A>T
|
rs1948094442
|
|
NM_001370298.3(FGD4):c.1129G>A (p.Ala377Thr)
|
|
|
NM_001370298.3(FGD4):c.1141T>C (p.Ser381Pro)
|
|
|
NM_001370298.3(FGD4):c.1151C>T (p.Ala384Val)
|
rs1295394925
|
|
NM_001370298.3(FGD4):c.1156A>G (p.Met386Val)
|
rs1948410675
|
|
NM_001370298.3(FGD4):c.1158G>A (p.Met386Ile)
|
|
|
NM_001370298.3(FGD4):c.1202A>T (p.His401Leu)
|
rs2136650004
|
|
NM_001370298.3(FGD4):c.1220C>A (p.Pro407Gln)
|
|
|
NM_001370298.3(FGD4):c.1248-3C>T
|
|
|
NM_001370298.3(FGD4):c.1268G>T (p.Gly423Val)
|
rs2136658541
|
|
NM_001370298.3(FGD4):c.1286T>C (p.Leu429Ser)
|
rs2136658634
|
|
NM_001370298.3(FGD4):c.1327T>C (p.Phe443Leu)
|
rs2136659122
|
|
NM_001370298.3(FGD4):c.1333A>T (p.Asn445Tyr)
|
|
|
NM_001370298.3(FGD4):c.1334A>C (p.Asn445Thr)
|
rs1451834045
|
|
NM_001370298.3(FGD4):c.1344A>T (p.Glu448Asp)
|
|
|
NM_001370298.3(FGD4):c.1370T>C (p.Ile457Thr)
|
|
|
NM_001370298.3(FGD4):c.1372C>T (p.Pro458Ser)
|
rs2136659608
|
|
NM_001370298.3(FGD4):c.1387G>A (p.Val463Met)
|
rs2136659690
|
|
NM_001370298.3(FGD4):c.1390G>A (p.Val464Ile)
|
rs2082190695
|
|
NM_001370298.3(FGD4):c.1390G>T (p.Val464Phe)
|
|
|
NM_001370298.3(FGD4):c.1391T>C (p.Val464Ala)
|
rs2136659782
|
|
NM_001370298.3(FGD4):c.1404+4A>T
|
rs767855809
|
|
NM_001370298.3(FGD4):c.1404+5dup
|
rs2136659935
|
|
NM_001370298.3(FGD4):c.1404+6A>T
|
rs2136659955
|
|
NM_001370298.3(FGD4):c.1444A>G (p.Met482Val)
|
rs1404084092
|
|
NM_001370298.3(FGD4):c.1454C>A (p.Pro485His)
|
rs928398769
|
|
NM_001370298.3(FGD4):c.1463G>C (p.Arg488Pro)
|
rs138762438
|
|
NM_001370298.3(FGD4):c.1472G>T (p.Arg491Leu)
|
|
|
NM_001370298.3(FGD4):c.1491G>T (p.Lys497Asn)
|
rs1948897635
|
|
NM_001370298.3(FGD4):c.1493A>G (p.Asp498Gly)
|
|
|
NM_001370298.3(FGD4):c.1514C>T (p.Pro505Leu)
|
rs1948899992
|
|
NM_001370298.3(FGD4):c.1535A>T (p.Asp512Val)
|
rs754600353
|
|
NM_001370298.3(FGD4):c.1543A>C (p.Lys515Gln)
|
rs2136725845
|
|
NM_001370298.3(FGD4):c.1546T>G (p.Ser516Ala)
|
rs1396328756
|
|
NM_001370298.3(FGD4):c.1562C>T (p.Ser521Phe)
|
rs1949089197
|
|
NM_001370298.3(FGD4):c.1605G>T (p.Glu535Asp)
|
rs746263549
|
|
NM_001370298.3(FGD4):c.1619T>G (p.Leu540Arg)
|
|
|
NM_001370298.3(FGD4):c.1644AGA[3] (p.Glu551del)
|
rs1264651352
|
|
NM_001370298.3(FGD4):c.1650A>C (p.Glu550Asp)
|
|
|
NM_001370298.3(FGD4):c.1667C>T (p.Pro556Leu)
|
rs773514635
|
|
NM_001370298.3(FGD4):c.1669T>A (p.Ser557Thr)
|
rs759385629
|
|
NM_001370298.3(FGD4):c.1730A>G (p.Gln577Arg)
|
rs2136769216
|
|
NM_001370298.3(FGD4):c.1735C>T (p.Arg579Cys)
|
rs1949117700
|
|
NM_001370298.3(FGD4):c.1738T>C (p.Tyr580His)
|
rs1555217941
|
|
NM_001370298.3(FGD4):c.1798T>C (p.Ser600Pro)
|
rs2136879170
|
|
NM_001370298.3(FGD4):c.1814G>A (p.Arg605Gln)
|
|
|
NM_001370298.3(FGD4):c.1817C>G (p.Thr606Ser)
|
rs2136879434
|
|
NM_001370298.3(FGD4):c.1840A>C (p.Lys614Gln)
|
rs1949689887
|
|
NM_001370298.3(FGD4):c.1922+4A>G
|
rs760192025
|
|
NM_001370298.3(FGD4):c.1924T>G (p.Ser642Ala)
|
|
|
NM_001370298.3(FGD4):c.2024A>G (p.Asn675Ser)
|
rs1592452330
|
|
NM_001370298.3(FGD4):c.2030T>G (p.Ile677Ser)
|
rs760696455
|
|
NM_001370298.3(FGD4):c.2035T>A (p.Ser679Thr)
|
rs150746174
|
|
NM_001370298.3(FGD4):c.2103G>A (p.Met701Ile)
|
rs1267580970
|
|
NM_001370298.3(FGD4):c.2117A>G (p.Lys706Arg)
|
rs1950119263
|
|
NM_001370298.3(FGD4):c.2122C>G (p.Pro708Ala)
|
rs144693221
|
|
NM_001370298.3(FGD4):c.2122C>T (p.Pro708Ser)
|
rs144693221
|
|
NM_001370298.3(FGD4):c.2123C>T (p.Pro708Leu)
|
rs145071617
|
|
NM_001370298.3(FGD4):c.2141G>A (p.Arg714Gln)
|
rs372890690
|
|
NM_001370298.3(FGD4):c.2162C>T (p.Ala721Val)
|
|
|
NM_001370298.3(FGD4):c.2164T>C (p.Cys722Arg)
|
rs1432249262
|
|
NM_001370298.3(FGD4):c.2228A>G (p.Lys743Arg)
|
rs1950617596
|
|
NM_001370298.3(FGD4):c.2243G>T (p.Cys748Phe)
|
rs1950618963
|
|
NM_001370298.3(FGD4):c.2249A>C (p.Asp750Ala)
|
rs1950619446
|
|
NM_001370298.3(FGD4):c.2259A>C (p.Gln753His)
|
|
|
NM_001370298.3(FGD4):c.2278G>C (p.Asp760His)
|
rs2137024260
|
|
NM_001370298.3(FGD4):c.2285A>G (p.Glu762Gly)
|
rs139663812
|
|
NM_001370298.3(FGD4):c.2288A>T (p.Glu763Val)
|
rs1484964809
|
|
NM_001370298.3(FGD4):c.2292_2294del (p.Lys765del)
|
|
|
NM_001370298.3(FGD4):c.2313+5G>C
|
rs777362500
|
|
NM_001370298.3(FGD4):c.2330T>C (p.Val777Ala)
|
|
|
NM_001370298.3(FGD4):c.2340C>A (p.Asn780Lys)
|
rs1555224749
|
|
NM_001370298.3(FGD4):c.2345T>C (p.Val782Ala)
|
rs1296247975
|
|
NM_001370298.3(FGD4):c.2371G>C (p.Glu791Gln)
|
rs1276989118
|
|
NM_001370298.3(FGD4):c.2404G>A (p.Val802Met)
|
rs768786804
|
|
NM_001370298.3(FGD4):c.2423C>T (p.Pro808Leu)
|
|
|
NM_001370298.3(FGD4):c.2450C>T (p.Pro817Leu)
|
|
|
NM_001370298.3(FGD4):c.2492A>G (p.Tyr831Cys)
|
rs760349455
|
|
NM_001370298.3(FGD4):c.2518G>T (p.Ala840Ser)
|
rs145630882
|
|
NM_001370298.3(FGD4):c.2538C>G (p.Phe846Leu)
|
rs1336663423
|
|
NM_001370298.3(FGD4):c.2554A>G (p.Lys852Glu)
|
rs1951098766
|
|
NM_001370298.3(FGD4):c.2560G>T (p.Val854Leu)
|
rs61753359
|
|
NM_001370298.3(FGD4):c.2563C>T (p.His855Tyr)
|
rs908838682
|
|
NM_001370298.3(FGD4):c.2590C>G (p.Leu864Val)
|
rs1592515601
|
|
NM_001370298.3(FGD4):c.2591T>A (p.Leu864Gln)
|
rs1592515619
|
|
NM_001370298.3(FGD4):c.2626G>A (p.Val876Ile)
|
rs1411372303
|
|
NM_001370298.3(FGD4):c.2644G>A (p.Gly882Ser)
|
rs775920519
|
|
NM_001370298.3(FGD4):c.2663del (p.Pro888fs)
|
rs745923777
|
|
NM_001370298.3(FGD4):c.2665G>C (p.Ala889Pro)
|
|
|
NM_001370298.3(FGD4):c.2666C>A (p.Ala889Asp)
|
rs2137094596
|
|
NM_001370298.3(FGD4):c.2666C>T (p.Ala889Val)
|
rs2137094596
|
|
NM_001370298.3(FGD4):c.2680C>T (p.His894Tyr)
|
rs1161666501
|
|
NM_001370298.3(FGD4):c.2704G>T (p.Glu902Ter)
|
rs752612218
|
|
NM_001370298.3(FGD4):c.412A>G (p.Met138Val)
|
rs1946127146
|
|
NM_001370298.3(FGD4):c.457A>G (p.Lys153Glu)
|
rs2136376441
|
|
NM_001370298.3(FGD4):c.488G>T (p.Arg163Leu)
|
rs540449675
|
|
NM_001370298.3(FGD4):c.493G>C (p.Glu165Gln)
|
|
|
NM_001370298.3(FGD4):c.503+3A>C
|
rs2136376879
|
|
NM_001370298.3(FGD4):c.536A>G (p.Glu179Gly)
|
|
|
NM_001370298.3(FGD4):c.607CTC[1] (p.Leu204del)
|
rs763887179
|
|
NM_001370298.3(FGD4):c.610C>G (p.Leu204Val)
|
rs906371311
|
|
NM_001370298.3(FGD4):c.614C>T (p.Ser205Phe)
|
|
|
NM_001370298.3(FGD4):c.643G>A (p.Asp215Asn)
|
|
|
NM_001370298.3(FGD4):c.671C>G (p.Thr224Ser)
|
rs1282163986
|
|
NM_001370298.3(FGD4):c.674G>T (p.Cys225Phe)
|
rs201660852
|
|
NM_001370298.3(FGD4):c.683A>G (p.Asn228Ser)
|
rs1465985805
|
|
NM_001370298.3(FGD4):c.685G>A (p.Gly229Ser)
|
|
|
NM_001370298.3(FGD4):c.716G>A (p.Cys239Tyr)
|
rs1946667139
|
|
NM_001370298.3(FGD4):c.719_733del (p.Glu240_Ala244del)
|
rs1314855895
|
|
NM_001370298.3(FGD4):c.727A>G (p.Lys243Glu)
|
rs1320412245
|
|
NM_001370298.3(FGD4):c.733G>A (p.Ala245Thr)
|
rs1946669350
|
|
NM_001370298.3(FGD4):c.755C>G (p.Ser252Cys)
|
rs1946671502
|
|
NM_001370298.3(FGD4):c.764C>T (p.Ala255Val)
|
rs1946672101
|
|
NM_001370298.3(FGD4):c.785C>G (p.Thr262Arg)
|
rs200732890
|
|
NM_001370298.3(FGD4):c.808G>T (p.Asp270Tyr)
|
|
|
NM_001370298.3(FGD4):c.823G>C (p.Ala275Pro)
|
|
|
NM_001370298.3(FGD4):c.824C>A (p.Ala275Asp)
|
|
|
NM_001370298.3(FGD4):c.838A>G (p.Thr280Ala)
|
rs1463004734
|
|
NM_001370298.3(FGD4):c.845_846delinsTT (p.Asp282Val)
|
|
|
NM_001370298.3(FGD4):c.854A>T (p.Asp285Val)
|
rs1565869688
|
|
NM_001370298.3(FGD4):c.862G>A (p.Ala288Thr)
|
|
|
NM_001370298.3(FGD4):c.900_902del (p.Val301del)
|
|
|
NM_001370298.3(FGD4):c.907C>T (p.Pro303Ser)
|
|
|
NM_001370298.3(FGD4):c.950A>G (p.Glu317Gly)
|
rs1452437045
|
|
NM_001370298.3(FGD4):c.955G>A (p.Glu319Lys)
|
rs1592295272
|
|
NM_001370298.3(FGD4):c.958A>G (p.Asn320Asp)
|
rs1946688403
|
|
NM_001376.5(DYNC1H1):c.10041C>A (p.Phe3347Leu)
|
|
|
NM_001376.5(DYNC1H1):c.10054G>A (p.Val3352Ile)
|
|
|
NM_001376.5(DYNC1H1):c.10085C>T (p.Ala3362Val)
|
rs2152591666
|
|
NM_001376.5(DYNC1H1):c.10096A>G (p.Lys3366Glu)
|
|
|
NM_001376.5(DYNC1H1):c.10103A>G (p.Lys3368Arg)
|
rs1356616117
|
|
NM_001376.5(DYNC1H1):c.10134_10135inv (p.Asn3378_Tyr3379delinsLysAsn)
|
|
|
NM_001376.5(DYNC1H1):c.10136A>T (p.Tyr3379Phe)
|
|
|
NM_001376.5(DYNC1H1):c.10150C>A (p.Arg3384=)
|
|
|
NM_001376.5(DYNC1H1):c.10174A>G (p.Met3392Val)
|
rs2152591694
|
|
NM_001376.5(DYNC1H1):c.10182A>G (p.Lys3394=)
|
rs867202471
|
|
NM_001376.5(DYNC1H1):c.10198-15A>G
|
|
|
NM_001376.5(DYNC1H1):c.10198-3C>A
|
|
|
NM_001376.5(DYNC1H1):c.10198C>T (p.Leu3400Phe)
|
|
|
NM_001376.5(DYNC1H1):c.10213A>G (p.Met3405Val)
|
rs2048531389
|
|
NM_001376.5(DYNC1H1):c.10216T>G (p.Leu3406Val)
|
|
|
NM_001376.5(DYNC1H1):c.10238G>A (p.Arg3413His)
|
|
|
NM_001376.5(DYNC1H1):c.10294G>A (p.Glu3432Lys)
|
rs2152591792
|
|
NM_001376.5(DYNC1H1):c.10312C>T (p.Arg3438Ter)
|
|
|
NM_001376.5(DYNC1H1):c.10315G>A (p.Asp3439Asn)
|
rs766521055
|
|
NM_001376.5(DYNC1H1):c.10346A>G (p.Glu3449Gly)
|
|
|
NM_001376.5(DYNC1H1):c.10354G>A (p.Ala3452Thr)
|
rs1555411400
|
|
NM_001376.5(DYNC1H1):c.10381A>G (p.Ile3461Val)
|
|
|
NM_001376.5(DYNC1H1):c.10385A>G (p.Lys3462Arg)
|
|
|
NM_001376.5(DYNC1H1):c.10413+3A>G
|
rs2048533401
|
|
NM_001376.5(DYNC1H1):c.10414-14G>A
|
rs2152592099
|
|
NM_001376.5(DYNC1H1):c.10414G>A (p.Val3472Ile)
|
|
|
NM_001376.5(DYNC1H1):c.10414G>T (p.Val3472Leu)
|
|
|
NM_001376.5(DYNC1H1):c.10421G>A (p.Arg3474Gln)
|
rs2152592111
|
|
NM_001376.5(DYNC1H1):c.10488C>A (p.Phe3496Leu)
|
|
|
NM_001376.5(DYNC1H1):c.10488C>G (p.Phe3496Leu)
|
rs2152592159
|
|
NM_001376.5(DYNC1H1):c.10526T>C (p.Leu3509Ser)
|
|
|
NM_001376.5(DYNC1H1):c.10535C>G (p.Ala3512Gly)
|
|
|
NM_001376.5(DYNC1H1):c.10547A>G (p.Tyr3516Cys)
|
|
|
NM_001376.5(DYNC1H1):c.10549G>A (p.Ala3517Thr)
|
rs2152592178
|
|
NM_001376.5(DYNC1H1):c.10558T>C (p.Phe3520Leu)
|
|
|
NM_001376.5(DYNC1H1):c.10564C>T (p.Gln3522Ter)
|
rs2152592188
|
|
NM_001376.5(DYNC1H1):c.10613A>G (p.Gln3538Arg)
|
rs2048543572
|
|
NM_001376.5(DYNC1H1):c.10627-6T>C
|
rs1555411461
|
|
NM_001376.5(DYNC1H1):c.10649C>T (p.Thr3550Met)
|
|
|
NM_001376.5(DYNC1H1):c.10661C>T (p.Ser3554Phe)
|
rs1567019533
|
|
NM_001376.5(DYNC1H1):c.10676G>A (p.Arg3559His)
|
|
|
NM_001376.5(DYNC1H1):c.10694G>C (p.Ser3565Thr)
|
|
|
NM_001376.5(DYNC1H1):c.10695C>G (p.Ser3565Arg)
|
|
|
NM_001376.5(DYNC1H1):c.10726A>G (p.Asn3576Asp)
|
|
|
NM_001376.5(DYNC1H1):c.10735A>G (p.Met3579Val)
|
rs2152592339
|
|
NM_001376.5(DYNC1H1):c.10736T>C (p.Met3579Thr)
|
|
|
NM_001376.5(DYNC1H1):c.10745G>A (p.Arg3582Gln)
|
rs866994746
|
|
NM_001376.5(DYNC1H1):c.10752T>C (p.Asn3584=)
|
rs181445947
|
|
NM_001376.5(DYNC1H1):c.10754+3A>G
|
rs2152592348
|
|
NM_001376.5(DYNC1H1):c.10760C>T (p.Pro3587Leu)
|
|
|
NM_001376.5(DYNC1H1):c.10768A>C (p.Ile3590Leu)
|
rs2152593630
|
|
NM_001376.5(DYNC1H1):c.10786G>A (p.Ala3596Thr)
|
|
|
NM_001376.5(DYNC1H1):c.10802T>C (p.Met3601Thr)
|
|
|
NM_001376.5(DYNC1H1):c.10805A>G (p.Asn3602Ser)
|
|
|
NM_001376.5(DYNC1H1):c.10813A>G (p.Lys3605Glu)
|
|
|
NM_001376.5(DYNC1H1):c.10819C>T (p.Arg3607Cys)
|
rs773374068
|
|
NM_001376.5(DYNC1H1):c.10820G>A (p.Arg3607His)
|
rs1321841274
|
|
NM_001376.5(DYNC1H1):c.10826T>C (p.Ile3609Thr)
|
rs2048577600
|
|
NM_001376.5(DYNC1H1):c.10832G>C (p.Arg3611Pro)
|
|
|
NM_001376.5(DYNC1H1):c.10843C>G (p.Leu3615Val)
|
|
|
NM_001376.5(DYNC1H1):c.10850A>G (p.Asp3617Gly)
|
rs2152593675
|
|
NM_001376.5(DYNC1H1):c.10852G>A (p.Ala3618Thr)
|
|
|
NM_001376.5(DYNC1H1):c.1085C>T (p.Thr362Ile)
|
rs1818621543
|
|
NM_001376.5(DYNC1H1):c.10887C>G (p.Phe3629Leu)
|
rs141133453
|
|
NM_001376.5(DYNC1H1):c.10888G>A (p.Gly3630Ser)
|
rs2048578300
|
|
NM_001376.5(DYNC1H1):c.1088A>G (p.His363Arg)
|
|
|
NM_001376.5(DYNC1H1):c.10912G>A (p.Val3638Met)
|
|
|
NM_001376.5(DYNC1H1):c.10939C>G (p.Pro3647Ala)
|
rs2152594696
|
|
NM_001376.5(DYNC1H1):c.10940C>T (p.Pro3647Leu)
|
rs2152594699
|
|
NM_001376.5(DYNC1H1):c.10957G>A (p.Val3653Met)
|
rs2152594710
|
|
NM_001376.5(DYNC1H1):c.10958T>C (p.Val3653Ala)
|
rs2152594711
|
|
NM_001376.5(DYNC1H1):c.10968_10969del (p.Gly3658fs)
|
|
|
NM_001376.5(DYNC1H1):c.10972_10974dup (p.Gly3658_Arg3659insGly)
|
|
|
NM_001376.5(DYNC1H1):c.10988C>T (p.Thr3663Ile)
|
rs2152594727
|
|
NM_001376.5(DYNC1H1):c.10993G>A (p.Gly3665Arg)
|
rs2152594732
|
|
NM_001376.5(DYNC1H1):c.11005A>G (p.Ile3669Val)
|
|
|
NM_001376.5(DYNC1H1):c.11006T>C (p.Ile3669Thr)
|
rs2152594739
|
|
NM_001376.5(DYNC1H1):c.11014T>C (p.Ser3672Pro)
|
rs2152594742
|
|
NM_001376.5(DYNC1H1):c.11014T>G (p.Ser3672Ala)
|
|
|
NM_001376.5(DYNC1H1):c.1102C>T (p.Arg368Ter)
|
|
|
NM_001376.5(DYNC1H1):c.1103G>A (p.Arg368Gln)
|
rs2141272334
|
|
NM_001376.5(DYNC1H1):c.11055+6G>A
|
rs1595629239
|
|
NM_001376.5(DYNC1H1):c.11152A>G (p.Lys3718Glu)
|
|
|
NM_001376.5(DYNC1H1):c.11206G>A (p.Gly3736Arg)
|
rs2048608382
|
|
NM_001376.5(DYNC1H1):c.11207-19G>T
|
rs2048610504
|
|
NM_001376.5(DYNC1H1):c.11218C>T (p.Leu3740Phe)
|
|
|
NM_001376.5(DYNC1H1):c.1121T>A (p.Ile374Asn)
|
|
|
NM_001376.5(DYNC1H1):c.11221C>T (p.Arg3741Cys)
|
rs2048610848
|
|
NM_001376.5(DYNC1H1):c.11272G>C (p.Gly3758Arg)
|
|
|
NM_001376.5(DYNC1H1):c.11275C>T (p.Arg3759Cys)
|
|
|
NM_001376.5(DYNC1H1):c.11290G>A (p.Asp3764Asn)
|
|
|
NM_001376.5(DYNC1H1):c.11294C>T (p.Thr3765Met)
|
|
|
NM_001376.5(DYNC1H1):c.112G>C (p.Val38Leu)
|
rs2141258546
|
|
NM_001376.5(DYNC1H1):c.11305A>C (p.Thr3769Pro)
|
rs2152594953
|
|
NM_001376.5(DYNC1H1):c.1130C>G (p.Ala377Gly)
|
|
|
NM_001376.5(DYNC1H1):c.11344A>G (p.Arg3782Gly)
|
rs2152594974
|
|
NM_001376.5(DYNC1H1):c.11345G>A (p.Arg3782Lys)
|
|
|
NM_001376.5(DYNC1H1):c.11350G>C (p.Val3784Leu)
|
rs1482714496
|
|
NM_001376.5(DYNC1H1):c.11371A>G (p.Met3791Val)
|
|
|
NM_001376.5(DYNC1H1):c.11379G>T (p.Glu3793Asp)
|
rs2152594990
|
|
NM_001376.5(DYNC1H1):c.11408C>G (p.Pro3803Arg)
|
rs571126286
|
|
NM_001376.5(DYNC1H1):c.11408C>T (p.Pro3803Leu)
|
rs571126286
|
|
NM_001376.5(DYNC1H1):c.11460+1G>T
|
|
|
NM_001376.5(DYNC1H1):c.11474A>G (p.Tyr3825Cys)
|
|
|
NM_001376.5(DYNC1H1):c.11495T>C (p.Phe3832Ser)
|
|
|
NM_001376.5(DYNC1H1):c.11531C>T (p.Pro3844Leu)
|
|
|
NM_001376.5(DYNC1H1):c.11549C>A (p.Thr3850Asn)
|
|
|
NM_001376.5(DYNC1H1):c.11558C>A (p.Thr3853Lys)
|
|
|
NM_001376.5(DYNC1H1):c.11563C>T (p.Arg3855Cys)
|
|
|
NM_001376.5(DYNC1H1):c.11573T>C (p.Ile3858Thr)
|
|
|
NM_001376.5(DYNC1H1):c.11608C>T (p.Arg3870Ter)
|
rs2152595277
|
|
NM_001376.5(DYNC1H1):c.11617C>T (p.Arg3873Ter)
|
|
|
NM_001376.5(DYNC1H1):c.11683A>G (p.Thr3895Ala)
|
rs1326124955
|
|
NM_001376.5(DYNC1H1):c.11683A>T (p.Thr3895Ser)
|
|
|
NM_001376.5(DYNC1H1):c.11690+3A>T
|
rs1482293429
|
|
NM_001376.5(DYNC1H1):c.11690+5G>A
|
rs1336913296
|
|
NM_001376.5(DYNC1H1):c.11698A>G (p.Thr3900Ala)
|
rs2048630829
|
|
NM_001376.5(DYNC1H1):c.11717A>G (p.Gln3906Arg)
|
|
|
NM_001376.5(DYNC1H1):c.11735A>G (p.Asn3912Ser)
|
|
|
NM_001376.5(DYNC1H1):c.11743G>A (p.Val3915Ile)
|
|
|
NM_001376.5(DYNC1H1):c.11749A>T (p.Ser3917Cys)
|
|
|
NM_001376.5(DYNC1H1):c.11752G>A (p.Ala3918Thr)
|
rs2048631708
|
|
NM_001376.5(DYNC1H1):c.11765C>G (p.Pro3922Arg)
|
rs141696238
|
|
NM_001376.5(DYNC1H1):c.11771T>A (p.Ile3924Asn)
|
|
|
NM_001376.5(DYNC1H1):c.11773C>G (p.Gln3925Glu)
|
rs771773704
|
|
NM_001376.5(DYNC1H1):c.11791C>A (p.Gln3931Lys)
|
|
|
NM_001376.5(DYNC1H1):c.11801C>A (p.Ala3934Glu)
|
rs751780173
|
|
NM_001376.5(DYNC1H1):c.11802G>T (p.Ala3934=)
|
|
|
NM_001376.5(DYNC1H1):c.11804T>C (p.Val3935Ala)
|
|
|
NM_001376.5(DYNC1H1):c.11824C>T (p.Pro3942Ser)
|
rs1006593304
|
|
NM_001376.5(DYNC1H1):c.11828C>T (p.Ala3943Val)
|
|
|
NM_001376.5(DYNC1H1):c.11836G>A (p.Asp3946Asn)
|
rs2152595704
|
|
NM_001376.5(DYNC1H1):c.11851G>A (p.Val3951Ile)
|
|
|
NM_001376.5(DYNC1H1):c.11851G>T (p.Val3951Phe)
|
rs2152595709
|
|
NM_001376.5(DYNC1H1):c.11855A>G (p.Gln3952Arg)
|
rs1595630600
|
|
NM_001376.5(DYNC1H1):c.11857G>A (p.Ala3953Thr)
|
rs2048633996
|
|
NM_001376.5(DYNC1H1):c.11865+7_11865+9dup
|
|
|
NM_001376.5(DYNC1H1):c.11870T>C (p.Phe3957Ser)
|
rs2048637475
|
|
NM_001376.5(DYNC1H1):c.11890A>C (p.Ser3964Arg)
|
|
|
NM_001376.5(DYNC1H1):c.11893T>G (p.Ser3965Ala)
|
|
|
NM_001376.5(DYNC1H1):c.11917C>T (p.Leu3973Phe)
|
|
|
NM_001376.5(DYNC1H1):c.1192A>G (p.Thr398Ala)
|
rs1314946037
|
|
NM_001376.5(DYNC1H1):c.11936C>G (p.Pro3979Arg)
|
|
|
NM_001376.5(DYNC1H1):c.11940A>G (p.Ala3980=)
|
|
|
NM_001376.5(DYNC1H1):c.11941+2T>A
|
rs1595630836
|
|
NM_001376.5(DYNC1H1):c.11941+2T>G
|
|
|
NM_001376.5(DYNC1H1):c.11941+6C>T
|
rs2048638511
|
|
NM_001376.5(DYNC1H1):c.11942-3C>T
|
rs2152596249
|
|
NM_001376.5(DYNC1H1):c.11950G>C (p.Gly3984Arg)
|
|
|
NM_001376.5(DYNC1H1):c.11956G>A (p.Ala3986Thr)
|
|
|
NM_001376.5(DYNC1H1):c.11966G>T (p.Arg3989Leu)
|
|
|
NM_001376.5(DYNC1H1):c.11974C>G (p.Leu3992Val)
|
|
|
NM_001376.5(DYNC1H1):c.11990G>A (p.Arg3997Gln)
|
|
|
NM_001376.5(DYNC1H1):c.11C>T (p.Pro4Leu)
|
|
|
NM_001376.5(DYNC1H1):c.12007G>A (p.Ala4003Thr)
|
rs2152596279
|
|
NM_001376.5(DYNC1H1):c.12019A>C (p.Met4007Leu)
|
|
|
NM_001376.5(DYNC1H1):c.12024del (p.Phe4008fs)
|
|
|
NM_001376.5(DYNC1H1):c.12025G>A (p.Val4009Ile)
|
rs2152596295
|
|
NM_001376.5(DYNC1H1):c.12028T>C (p.Ser4010Pro)
|
|
|
NM_001376.5(DYNC1H1):c.12029C>T (p.Ser4010Leu)
|
|
|
NM_001376.5(DYNC1H1):c.12038T>A (p.Leu4013His)
|
rs2152596304
|
|
NM_001376.5(DYNC1H1):c.12053T>C (p.Met4018Thr)
|
rs2048651644
|
|
NM_001376.5(DYNC1H1):c.12058A>T (p.Ile4020Phe)
|
rs2152596319
|
|
NM_001376.5(DYNC1H1):c.12067C>T (p.Gln4023Ter)
|
|
|
NM_001376.5(DYNC1H1):c.1206G>C (p.Met402Ile)
|
|
|
NM_001376.5(DYNC1H1):c.12070C>G (p.Pro4024Ala)
|
|
|
NM_001376.5(DYNC1H1):c.1208A>G (p.His403Arg)
|
rs1451197374
|
|
NM_001376.5(DYNC1H1):c.12102+4A>G
|
rs559197482
|
|
NM_001376.5(DYNC1H1):c.12103G>T (p.Val4035Leu)
|
|
|
NM_001376.5(DYNC1H1):c.12109_12110delinsTT (p.Pro4037Phe)
|
rs1595631704
|
|
NM_001376.5(DYNC1H1):c.1213G>A (p.Ala405Thr)
|
|
|
NM_001376.5(DYNC1H1):c.12146A>T (p.Tyr4049Phe)
|
rs2048657881
|
|
NM_001376.5(DYNC1H1):c.12161A>G (p.His4054Arg)
|
|
|
NM_001376.5(DYNC1H1):c.12181G>A (p.Glu4061Lys)
|
rs797045530
|
|
NM_001376.5(DYNC1H1):c.12223G>A (p.Glu4075Lys)
|
|
|
NM_001376.5(DYNC1H1):c.12232A>C (p.Asn4078His)
|
rs2152596574
|
|
NM_001376.5(DYNC1H1):c.12241G>C (p.Asp4081His)
|
|
|
NM_001376.5(DYNC1H1):c.12247G>T (p.Ala4083Ser)
|
|
|
NM_001376.5(DYNC1H1):c.12257C>T (p.Thr4086Ile)
|
|
|
NM_001376.5(DYNC1H1):c.12268T>G (p.Ser4090Ala)
|
|
|
NM_001376.5(DYNC1H1):c.12269C>T (p.Ser4090Leu)
|
|
|
NM_001376.5(DYNC1H1):c.12275+6C>T
|
rs2152596589
|
|
NM_001376.5(DYNC1H1):c.12276-3C>T
|
|
|
NM_001376.5(DYNC1H1):c.12293A>G (p.Asn4098Ser)
|
rs2152596637
|
|
NM_001376.5(DYNC1H1):c.12317T>A (p.Leu4106Gln)
|
rs2152596641
|
|
NM_001376.5(DYNC1H1):c.12322C>G (p.Gln4108Glu)
|
rs2152596646
|
|
NM_001376.5(DYNC1H1):c.12331AAG[1] (p.Lys4112del)
|
|
|
NM_001376.5(DYNC1H1):c.12332A>C (p.Lys4111Thr)
|
|
|
NM_001376.5(DYNC1H1):c.12340C>T (p.His4114Tyr)
|
|
|
NM_001376.5(DYNC1H1):c.12341A>G (p.His4114Arg)
|
|
|
NM_001376.5(DYNC1H1):c.12353C>T (p.Pro4118Leu)
|
|
|
NM_001376.5(DYNC1H1):c.1237A>T (p.Met413Leu)
|
|
|
NM_001376.5(DYNC1H1):c.12431T>A (p.Ile4144Asn)
|
|
|
NM_001376.5(DYNC1H1):c.12441C>G (p.Phe4147Leu)
|
rs146075696
|
|
NM_001376.5(DYNC1H1):c.12442G>A (p.Glu4148Lys)
|
|
|
NM_001376.5(DYNC1H1):c.12449C>T (p.Pro4150Leu)
|
|
|
NM_001376.5(DYNC1H1):c.12457G>T (p.Val4153Leu)
|
rs2048667081
|
|
NM_001376.5(DYNC1H1):c.12507A>G (p.Ile4169Met)
|
|
|
NM_001376.5(DYNC1H1):c.12509G>A (p.Cys4170Tyr)
|
|
|
NM_001376.5(DYNC1H1):c.12513+2T>C
|
rs2152596793
|
|
NM_001376.5(DYNC1H1):c.12513+3A>T
|
|
|
NM_001376.5(DYNC1H1):c.12513G>A (p.Lys4171=)
|
|
|
NM_001376.5(DYNC1H1):c.12514-19T>G
|
|
|
NM_001376.5(DYNC1H1):c.12514-2_12518del
|
rs2152597446
|
|
NM_001376.5(DYNC1H1):c.12527G>A (p.Arg4176His)
|
|
|
NM_001376.5(DYNC1H1):c.12533G>A (p.Arg4178His)
|
rs2152597456
|
|
NM_001376.5(DYNC1H1):c.12563C>T (p.Ala4188Val)
|
|
|
NM_001376.5(DYNC1H1):c.12583C>T (p.Arg4195Ter)
|
rs2152597488
|
|
NM_001376.5(DYNC1H1):c.12590C>T (p.Ala4197Val)
|
rs2048683611
|
|
NM_001376.5(DYNC1H1):c.12597G>A (p.Leu4199=)
|
|
|
NM_001376.5(DYNC1H1):c.12607AAG[1] (p.Lys4204del)
|
rs2152597501
|
|
NM_001376.5(DYNC1H1):c.12618A>C (p.Glu4206Asp)
|
|
|
NM_001376.5(DYNC1H1):c.12655G>A (p.Val4219Met)
|
|
|
NM_001376.5(DYNC1H1):c.12677C>T (p.Thr4226Met)
|
rs776972173
|
|
NM_001376.5(DYNC1H1):c.12679G>A (p.Ala4227Thr)
|
|
|
NM_001376.5(DYNC1H1):c.12682A>C (p.Lys4228Gln)
|
|
|
NM_001376.5(DYNC1H1):c.12684+2C>T
|
rs2152597551
|
|
NM_001376.5(DYNC1H1):c.12684+2_12684+5dup
|
rs769593920
|
|
NM_001376.5(DYNC1H1):c.12684+6T>C
|
|
|
NM_001376.5(DYNC1H1):c.12721T>C (p.Ser4241Pro)
|
|
|
NM_001376.5(DYNC1H1):c.12749C>G (p.Ser4250Cys)
|
rs1595633349
|
|
NM_001376.5(DYNC1H1):c.12751A>G (p.Ile4251Val)
|
rs1467036408
|
|
NM_001376.5(DYNC1H1):c.12756T>G (p.Tyr4252Ter)
|
rs2048688862
|
|
NM_001376.5(DYNC1H1):c.12760G>A (p.Gly4254Arg)
|
|
|
NM_001376.5(DYNC1H1):c.12775G>A (p.Glu4259Lys)
|
|
|
NM_001376.5(DYNC1H1):c.12797A>C (p.Asn4266Thr)
|
rs760229878
|
|
NM_001376.5(DYNC1H1):c.12800C>T (p.Thr4267Ile)
|
|
|
NM_001376.5(DYNC1H1):c.12812G>T (p.Arg4271Leu)
|
|
|
NM_001376.5(DYNC1H1):c.12854C>T (p.Ala4285Val)
|
|
|
NM_001376.5(DYNC1H1):c.12878A>C (p.Asp4293Ala)
|
|
|
NM_001376.5(DYNC1H1):c.12902+4T>C
|
|
|
NM_001376.5(DYNC1H1):c.12903G>A (p.Arg4301=)
|
|
|
NM_001376.5(DYNC1H1):c.12908A>G (p.Glu4303Gly)
|
|
|
NM_001376.5(DYNC1H1):c.12928G>A (p.Glu4310Lys)
|
|
|
NM_001376.5(DYNC1H1):c.12942C>A (p.Asp4314Glu)
|
|
|
NM_001376.5(DYNC1H1):c.12982G>A (p.Glu4328Lys)
|
|
|
NM_001376.5(DYNC1H1):c.12987_12988del (p.Arg4329fs)
|
rs929395563
|
|
NM_001376.5(DYNC1H1):c.13001C>G (p.Thr4334Arg)
|
rs2048693948
|
|
NM_001376.5(DYNC1H1):c.13001C>T (p.Thr4334Ile)
|
|
|
NM_001376.5(DYNC1H1):c.13006+4G>A
|
rs1595633618
|
|
NM_001376.5(DYNC1H1):c.13006+6C>G
|
|
|
NM_001376.5(DYNC1H1):c.13006G>A (p.Gly4336Ser)
|
|
|
NM_001376.5(DYNC1H1):c.13012G>A (p.Asp4338Asn)
|
|
|
NM_001376.5(DYNC1H1):c.13030C>A (p.Leu4344Met)
|
rs2152600128
|
|
NM_001376.5(DYNC1H1):c.13076A>G (p.Glu4359Gly)
|
rs1253900818
|
|
NM_001376.5(DYNC1H1):c.13082AGA[2] (p.Lys4363del)
|
|
|
NM_001376.5(DYNC1H1):c.13085A>G (p.Lys4362Arg)
|
rs2152600168
|
|
NM_001376.5(DYNC1H1):c.13091C>G (p.Thr4364Arg)
|
|
|
NM_001376.5(DYNC1H1):c.13091_13093del (p.Thr4364del)
|
|
|
NM_001376.5(DYNC1H1):c.13091_13093dup (p.Thr4364_Arg4365insThr)
|
|
|
NM_001376.5(DYNC1H1):c.13100A>C (p.Asp4367Ala)
|
|
|
NM_001376.5(DYNC1H1):c.13123G>A (p.Ala4375Thr)
|
rs1472613465
|
|
NM_001376.5(DYNC1H1):c.13133G>A (p.Arg4378Gln)
|
|
|
NM_001376.5(DYNC1H1):c.13165C>T (p.His4389Tyr)
|
rs1567025279
|
|
NM_001376.5(DYNC1H1):c.13168C>G (p.Leu4390Val)
|
rs2048750450
|
|
NM_001376.5(DYNC1H1):c.13180A>G (p.Thr4394Ala)
|
rs1555412552
|
|
NM_001376.5(DYNC1H1):c.13189C>T (p.His4397Tyr)
|
rs2152600243
|
|
NM_001376.5(DYNC1H1):c.13198C>T (p.Arg4400Cys)
|
rs1455844874
|
|
NM_001376.5(DYNC1H1):c.13199G>A (p.Arg4400His)
|
rs879254217
|
|
NM_001376.5(DYNC1H1):c.13202C>A (p.Thr4401Asn)
|
|
|
NM_001376.5(DYNC1H1):c.13207G>C (p.Glu4403Gln)
|
|
|
NM_001376.5(DYNC1H1):c.13216A>C (p.Lys4406Gln)
|
rs2048750992
|
|
NM_001376.5(DYNC1H1):c.13218+4G>C
|
|
|
NM_001376.5(DYNC1H1):c.13218+5C>T
|
|
|
NM_001376.5(DYNC1H1):c.13224T>G (p.Pro4408=)
|
|
|
NM_001376.5(DYNC1H1):c.13227G>T (p.Leu4409Phe)
|
|
|
NM_001376.5(DYNC1H1):c.13256T>C (p.Met4419Thr)
|
|
|
NM_001376.5(DYNC1H1):c.13266G>C (p.Lys4422Asn)
|
rs1291353621
|
|
NM_001376.5(DYNC1H1):c.13274A>G (p.Gln4425Arg)
|
|
|
NM_001376.5(DYNC1H1):c.13285C>G (p.Gln4429Glu)
|
|
|
NM_001376.5(DYNC1H1):c.13295C>G (p.Ala4432Gly)
|
rs2048759187
|
|
NM_001376.5(DYNC1H1):c.13304T>C (p.Val4435Ala)
|
rs1469263725
|
|
NM_001376.5(DYNC1H1):c.13309G>C (p.Val4437Leu)
|
|
|
NM_001376.5(DYNC1H1):c.13321AAG[2] (p.Lys4443del)
|
|
|
NM_001376.5(DYNC1H1):c.13345C>T (p.Arg4449Cys)
|
rs2048759812
|
|
NM_001376.5(DYNC1H1):c.13360G>A (p.Glu4454Lys)
|
rs1064797194
|
|
NM_001376.5(DYNC1H1):c.13362G>C (p.Glu4454Asp)
|
|
|
NM_001376.5(DYNC1H1):c.13372+5G>A
|
|
|
NM_001376.5(DYNC1H1):c.13372+6T>G
|
|
|
NM_001376.5(DYNC1H1):c.13373-3C>G
|
rs1567025991
|
|
NM_001376.5(DYNC1H1):c.13377C>G (p.Ile4459Met)
|
|
|
NM_001376.5(DYNC1H1):c.13384C>T (p.Arg4462Trp)
|
rs879253914
|
|
NM_001376.5(DYNC1H1):c.13441G>A (p.Asp4481Asn)
|
rs1243385324
|
|
NM_001376.5(DYNC1H1):c.13452G>C (p.Glu4484Asp)
|
rs2048774638
|
|
NM_001376.5(DYNC1H1):c.13474A>C (p.Ile4492Leu)
|
rs2048775017
|
|
NM_001376.5(DYNC1H1):c.13474A>G (p.Ile4492Val)
|
rs2048775017
|
|
NM_001376.5(DYNC1H1):c.13483G>A (p.Ala4495Thr)
|
rs1567026040
|
|
NM_001376.5(DYNC1H1):c.13493C>T (p.Ser4498Phe)
|
|
|
NM_001376.5(DYNC1H1):c.13495G>A (p.Gly4499Ser)
|
rs2048775221
|
|
NM_001376.5(DYNC1H1):c.13495G>C (p.Gly4499Arg)
|
|
|
NM_001376.5(DYNC1H1):c.13508_13515+7dup
|
|
|
NM_001376.5(DYNC1H1):c.13515+2T>C
|
rs2152601082
|
|
NM_001376.5(DYNC1H1):c.13515+3G>A
|
rs2048775565
|
|
NM_001376.5(DYNC1H1):c.13516-10C>A
|
rs1595637656
|
|
NM_001376.5(DYNC1H1):c.13516-13C>G
|
rs2152601181
|
|
NM_001376.5(DYNC1H1):c.13516-2A>G
|
|
|
NM_001376.5(DYNC1H1):c.13518del (p.Asn4506fs)
|
|
|
NM_001376.5(DYNC1H1):c.13523A>G (p.His4508Arg)
|
|
|
NM_001376.5(DYNC1H1):c.13525G>A (p.Val4509Met)
|
|
|
NM_001376.5(DYNC1H1):c.1358A>G (p.Asn453Ser)
|
|
|
NM_001376.5(DYNC1H1):c.13590G>C (p.Gln4530His)
|
|
|
NM_001376.5(DYNC1H1):c.1359C>A (p.Asn453Lys)
|
rs2141272545
|
|
NM_001376.5(DYNC1H1):c.13609G>A (p.Glu4537Lys)
|
rs2048779548
|
|
NM_001376.5(DYNC1H1):c.13625A>G (p.Glu4542Gly)
|
|
|
NM_001376.5(DYNC1H1):c.13640C>T (p.Thr4547Ile)
|
rs2048780089
|
|
NM_001376.5(DYNC1H1):c.13649G>A (p.Gly4550Asp)
|
rs2152601253
|
|
NM_001376.5(DYNC1H1):c.13657C>T (p.Leu4553Phe)
|
rs997929938
|
|
NM_001376.5(DYNC1H1):c.13665_13668del (p.Cys4556fs)
|
|
|
NM_001376.5(DYNC1H1):c.13670G>C (p.Ser4557Thr)
|
rs2152601267
|
|
NM_001376.5(DYNC1H1):c.13684G>A (p.Gly4562Ser)
|
|
|
NM_001376.5(DYNC1H1):c.136G>A (p.Gly46Ser)
|
|
|
NM_001376.5(DYNC1H1):c.13709G>A (p.Cys4570Tyr)
|
|
|
NM_001376.5(DYNC1H1):c.13710CAA[3] (p.Asn4573del)
|
rs1013209915
|
|
NM_001376.5(DYNC1H1):c.13712A>G (p.Asn4571Ser)
|
|
|
NM_001376.5(DYNC1H1):c.13714A>C (p.Asn4572His)
|
|
|
NM_001376.5(DYNC1H1):c.13715A>G (p.Asn4572Ser)
|
rs2152601484
|
|
NM_001376.5(DYNC1H1):c.13719C>G (p.Asn4573Lys)
|
rs886050377
|
|
NM_001376.5(DYNC1H1):c.13730T>C (p.Leu4577Pro)
|
rs1567026417
|
|
NM_001376.5(DYNC1H1):c.13730T>G (p.Leu4577Arg)
|
|
|
NM_001376.5(DYNC1H1):c.13735A>G (p.Asn4579Asp)
|
|
|
NM_001376.5(DYNC1H1):c.13736A>G (p.Asn4579Ser)
|
|
|
NM_001376.5(DYNC1H1):c.13742T>C (p.Ile4581Thr)
|
rs2048787027
|
|
NM_001376.5(DYNC1H1):c.13747A>G (p.Thr4583Ala)
|
|
|
NM_001376.5(DYNC1H1):c.13751C>T (p.Ala4584Val)
|
|
|
NM_001376.5(DYNC1H1):c.13753C>T (p.Leu4585Phe)
|
|
|
NM_001376.5(DYNC1H1):c.13765C>G (p.Gln4589Glu)
|
rs2152601525
|
|
NM_001376.5(DYNC1H1):c.13766A>G (p.Gln4589Arg)
|
|
|
NM_001376.5(DYNC1H1):c.13777G>A (p.Val4593Ile)
|
rs750566844
|
|
NM_001376.5(DYNC1H1):c.13784A>G (p.Gln4595Arg)
|
rs2048787955
|
|
NM_001376.5(DYNC1H1):c.13787C>G (p.Thr4596Arg)
|
|
|
NM_001376.5(DYNC1H1):c.13796A>C (p.Glu4599Ala)
|
rs2152601545
|
|
NM_001376.5(DYNC1H1):c.13798A>C (p.Lys4600Gln)
|
rs1060502205
|
|
NM_001376.5(DYNC1H1):c.137G>T (p.Gly46Val)
|
rs1566991081
|
|
NM_001376.5(DYNC1H1):c.13801_13802delinsGC (p.Lys4601Ala)
|
rs2048788225
|
|
NM_001376.5(DYNC1H1):c.13803G>C (p.Lys4601Asn)
|
rs2048788302
|
|
NM_001376.5(DYNC1H1):c.13805C>A (p.Ala4602Asp)
|
|
|
NM_001376.5(DYNC1H1):c.13817C>T (p.Thr4606Ile)
|
|
|
NM_001376.5(DYNC1H1):c.13836C>T (p.Asn4612=)
|
|
|
NM_001376.5(DYNC1H1):c.1384C>T (p.Arg462Cys)
|
|
|
NM_001376.5(DYNC1H1):c.1385G>A (p.Arg462His)
|
rs202204063
|
|
NM_001376.5(DYNC1H1):c.13874A>C (p.Glu4625Ala)
|
|
|
NM_001376.5(DYNC1H1):c.13882A>G (p.Thr4628Ala)
|
rs2048794686
|
|
NM_001376.5(DYNC1H1):c.13885A>G (p.Lys4629Glu)
|
|
|
NM_001376.5(DYNC1H1):c.13887GGA[1] (p.Glu4630del)
|
rs2152601717
|
|
NM_001376.5(DYNC1H1):c.13895C>T (p.Pro4632Leu)
|
|
|
NM_001376.5(DYNC1H1):c.13906T>C (p.Tyr4636His)
|
|
|
NM_001376.5(DYNC1H1):c.1390G>C (p.Asp464His)
|
|
|
NM_001376.5(DYNC1H1):c.13925T>C (p.Val4642Ala)
|
|
|
NM_001376.5(DYNC1H1):c.13939T>G (p.Ter4647Glu)
|
|
|
NM_001376.5(DYNC1H1):c.1395G>C (p.Gln465His)
|
rs747183743
|
|
NM_001376.5(DYNC1H1):c.1407T>G (p.Phe469Leu)
|
|
|
NM_001376.5(DYNC1H1):c.1415A>T (p.Gln472Leu)
|
|
|
NM_001376.5(DYNC1H1):c.1417C>T (p.His473Tyr)
|
|
|
NM_001376.5(DYNC1H1):c.1441G>A (p.Val481Ile)
|
rs770305875
|
|
NM_001376.5(DYNC1H1):c.1442T>A (p.Val481Asp)
|
rs776102509
|
|
NM_001376.5(DYNC1H1):c.1454G>A (p.Arg485Lys)
|
rs879254275
|
|
NM_001376.5(DYNC1H1):c.1460A>C (p.Gln487Pro)
|
rs2141272621
|
|
NM_001376.5(DYNC1H1):c.1461+5G>A
|
rs2047892846
|
|
NM_001376.5(DYNC1H1):c.1461+5G>T
|
rs2047892846
|
|
NM_001376.5(DYNC1H1):c.1462G>A (p.Val488Ile)
|
|
|
NM_001376.5(DYNC1H1):c.1474G>A (p.Ala492Thr)
|
rs75648834
|
|
NM_001376.5(DYNC1H1):c.1493_1494insCTC (p.Glu498delinsAspSer)
|
|
|
NM_001376.5(DYNC1H1):c.1496T>A (p.Val499Asp)
|
|
|
NM_001376.5(DYNC1H1):c.1499C>T (p.Pro500Leu)
|
|
|
NM_001376.5(DYNC1H1):c.1507C>G (p.Gln503Glu)
|
rs1060502209
|
|
NM_001376.5(DYNC1H1):c.151G>T (p.Ala51Ser)
|
|
|
NM_001376.5(DYNC1H1):c.152C>T (p.Ala51Val)
|
|
|
NM_001376.5(DYNC1H1):c.1547A>T (p.Asp516Val)
|
|
|
NM_001376.5(DYNC1H1):c.1550C>G (p.Ala517Gly)
|
|
|
NM_001376.5(DYNC1H1):c.1564G>A (p.Glu522Lys)
|
rs1595600778
|
|
NM_001376.5(DYNC1H1):c.157G>A (p.Glu53Lys)
|
|
|
NM_001376.5(DYNC1H1):c.1588G>A (p.Val530Ile)
|
rs1302970492
|
|
NM_001376.5(DYNC1H1):c.1610A>G (p.Asp537Gly)
|
|
|
NM_001376.5(DYNC1H1):c.161_172del (p.50AALE[1])
|
|
|
NM_001376.5(DYNC1H1):c.1633G>A (p.Ala545Thr)
|
rs2047930968
|
|
NM_001376.5(DYNC1H1):c.1688G>A (p.Arg563Gln)
|
|
|
NM_001376.5(DYNC1H1):c.1697C>G (p.Ala566Gly)
|
|
|
NM_001376.5(DYNC1H1):c.1699C>T (p.Arg567Cys)
|
|
|
NM_001376.5(DYNC1H1):c.169GAG[1] (p.Glu58del)
|
rs2141258625
|
|
NM_001376.5(DYNC1H1):c.1705C>T (p.Arg569Trp)
|
|
|
NM_001376.5(DYNC1H1):c.1709A>T (p.Asp570Val)
|
rs2141274653
|
|
NM_001376.5(DYNC1H1):c.170A>G (p.Glu57Gly)
|
rs2047646207
|
|
NM_001376.5(DYNC1H1):c.1730A>T (p.Asn577Ile)
|
|
|
NM_001376.5(DYNC1H1):c.1754T>C (p.Phe585Ser)
|
rs2141274680
|
|
NM_001376.5(DYNC1H1):c.1756T>C (p.Ser586Pro)
|
|
|
NM_001376.5(DYNC1H1):c.17G>C (p.Gly6Ala)
|
rs2047642596
|
|
NM_001376.5(DYNC1H1):c.17_18insTGG (p.Gly9_Glu10insGly)
|
|
|
NM_001376.5(DYNC1H1):c.1804C>T (p.Arg602Cys)
|
|
|
NM_001376.5(DYNC1H1):c.1817C>T (p.Thr606Ile)
|
rs1566999079
|
|
NM_001376.5(DYNC1H1):c.1826T>G (p.Ile609Ser)
|
rs2047933165
|
|
NM_001376.5(DYNC1H1):c.1827C>G (p.Ile609Met)
|
rs760971556
|
|
NM_001376.5(DYNC1H1):c.1832G>A (p.Arg611His)
|
rs907022997
|
|
NM_001376.5(DYNC1H1):c.1847T>C (p.Ile616Thr)
|
rs1002760127
|
|
NM_001376.5(DYNC1H1):c.184C>G (p.Leu62Val)
|
|
|
NM_001376.5(DYNC1H1):c.1852T>C (p.Ser618Pro)
|
rs2141274736
|
|
NM_001376.5(DYNC1H1):c.1873G>A (p.Val625Ile)
|
|
|
NM_001376.5(DYNC1H1):c.1930G>T (p.Val644Leu)
|
|
|
NM_001376.5(DYNC1H1):c.1963G>A (p.Asp655Asn)
|
|
|
NM_001376.5(DYNC1H1):c.1990C>T (p.Arg664Trp)
|
rs2141274831
|
|
NM_001376.5(DYNC1H1):c.1991G>A (p.Arg664Gln)
|
rs2047934872
|
|
NM_001376.5(DYNC1H1):c.1996G>A (p.Glu666Lys)
|
rs2141274838
|
|
NM_001376.5(DYNC1H1):c.1999G>A (p.Asp667Asn)
|
|
|
NM_001376.5(DYNC1H1):c.2002G>A (p.Val668Ile)
|
rs1406149790
|
|
NM_001376.5(DYNC1H1):c.2011A>G (p.Lys671Glu)
|
rs387906742
|
|
NM_001376.5(DYNC1H1):c.2032G>A (p.Glu678Lys)
|
|
|
NM_001376.5(DYNC1H1):c.2069G>A (p.Arg690His)
|
|
|
NM_001376.5(DYNC1H1):c.2071A>G (p.Met691Val)
|
|
|
NM_001376.5(DYNC1H1):c.2080A>C (p.Asn694His)
|
rs2141274886
|
|
NM_001376.5(DYNC1H1):c.2083A>G (p.Thr695Ala)
|
rs2141274888
|
|
NM_001376.5(DYNC1H1):c.2102A>C (p.Asp701Ala)
|
|
|
NM_001376.5(DYNC1H1):c.210G>A (p.Ser70=)
|
rs2141258672
|
|
NM_001376.5(DYNC1H1):c.2121G>T (p.Gln707His)
|
|
|
NM_001376.5(DYNC1H1):c.2146C>T (p.Arg716Cys)
|
|
|
NM_001376.5(DYNC1H1):c.2149A>G (p.Ile717Val)
|
|
|
NM_001376.5(DYNC1H1):c.2150T>G (p.Ile717Ser)
|
rs2141274940
|
|
NM_001376.5(DYNC1H1):c.2161G>A (p.Glu721Lys)
|
rs2141274951
|
|
NM_001376.5(DYNC1H1):c.2176C>T (p.Arg726Trp)
|
|
|
NM_001376.5(DYNC1H1):c.2182C>T (p.Arg728Ter)
|
rs1595601098
|
|
NM_001376.5(DYNC1H1):c.2186C>T (p.Thr729Ile)
|
|
|
NM_001376.5(DYNC1H1):c.2194G>A (p.Val732Met)
|
|
|
NM_001376.5(DYNC1H1):c.2204T>C (p.Leu735Pro)
|
rs1002689170
|
|
NM_001376.5(DYNC1H1):c.221T>C (p.Val74Ala)
|
|
|
NM_001376.5(DYNC1H1):c.2243A>G (p.Lys748Arg)
|
|
|
NM_001376.5(DYNC1H1):c.2244A>G (p.Lys748=)
|
rs2141274997
|
|
NM_001376.5(DYNC1H1):c.2266C>T (p.Leu756Phe)
|
|
|
NM_001376.5(DYNC1H1):c.2267T>A (p.Leu756His)
|
|
|
NM_001376.5(DYNC1H1):c.2275C>T (p.Arg759Cys)
|
rs1303476982
|
|
NM_001376.5(DYNC1H1):c.2278G>T (p.Val760Phe)
|
|
|
NM_001376.5(DYNC1H1):c.2284C>A (p.Leu762Met)
|
|
|
NM_001376.5(DYNC1H1):c.2349G>C (p.Glu783Asp)
|
|
|
NM_001376.5(DYNC1H1):c.2353G>T (p.Val785Phe)
|
rs766014166
|
|
NM_001376.5(DYNC1H1):c.2363A>G (p.Tyr788Cys)
|
|
|
NM_001376.5(DYNC1H1):c.2366A>T (p.Glu789Val)
|
|
|
NM_001376.5(DYNC1H1):c.2368C>T (p.Arg790Trp)
|
|
|
NM_001376.5(DYNC1H1):c.2392C>T (p.Arg798Trp)
|
rs749479158
|
|
NM_001376.5(DYNC1H1):c.2408T>A (p.Leu803His)
|
|
|
NM_001376.5(DYNC1H1):c.2412G>C (p.Leu804Phe)
|
rs2047940382
|
|
NM_001376.5(DYNC1H1):c.2483A>G (p.Lys828Arg)
|
|
|
NM_001376.5(DYNC1H1):c.248C>T (p.Thr83Met)
|
rs1400787976
|
|
NM_001376.5(DYNC1H1):c.2532A>G (p.Gln844=)
|
rs1174175150
|
|
NM_001376.5(DYNC1H1):c.2538+5G>A
|
|
|
NM_001376.5(DYNC1H1):c.2539-6C>A
|
rs535465221
|
|
NM_001376.5(DYNC1H1):c.2539-6_2539-3del
|
rs2141275733
|
|
NM_001376.5(DYNC1H1):c.2539G>A (p.Val847Met)
|
|
|
NM_001376.5(DYNC1H1):c.2541G>A (p.Val847=)
|
rs1595601645
|
|
NM_001376.5(DYNC1H1):c.2564A>G (p.Glu855Gly)
|
rs2047949907
|
|
NM_001376.5(DYNC1H1):c.257-6T>A
|
rs2141266656
|
|
NM_001376.5(DYNC1H1):c.2588C>A (p.Ser863Tyr)
|
rs2047950008
|
|
NM_001376.5(DYNC1H1):c.2588C>T (p.Ser863Phe)
|
|
|
NM_001376.5(DYNC1H1):c.2624C>G (p.Ser875Trp)
|
rs184868637
|
|
NM_001376.5(DYNC1H1):c.262G>A (p.Val88Ile)
|
|
|
NM_001376.5(DYNC1H1):c.2678A>G (p.Tyr893Cys)
|
rs2141275840
|
|
NM_001376.5(DYNC1H1):c.2684A>G (p.Asn895Ser)
|
|
|
NM_001376.5(DYNC1H1):c.269A>T (p.Asp90Val)
|
rs2141266676
|
|
NM_001376.5(DYNC1H1):c.26G>A (p.Gly9Asp)
|
|
|
NM_001376.5(DYNC1H1):c.2713A>G (p.Met905Val)
|
rs2047951002
|
|
NM_001376.5(DYNC1H1):c.2715_2718+2del
|
|
|
NM_001376.5(DYNC1H1):c.2718+6G>A
|
|
|
NM_001376.5(DYNC1H1):c.2721T>G (p.Ile907Met)
|
rs114021657
|
|
NM_001376.5(DYNC1H1):c.2737G>T (p.Val913Phe)
|
rs372740994
|
|
NM_001376.5(DYNC1H1):c.2750C>G (p.Ala917Gly)
|
|
|
NM_001376.5(DYNC1H1):c.2766G>C (p.Trp922Cys)
|
rs2141276645
|
|
NM_001376.5(DYNC1H1):c.2773G>A (p.Val925Ile)
|
rs753727576
|
|
NM_001376.5(DYNC1H1):c.277GAA[2] (p.Glu95del)
|
rs913021962
|
|
NM_001376.5(DYNC1H1):c.2794G>A (p.Asp932Asn)
|
|
|
NM_001376.5(DYNC1H1):c.2813T>C (p.Met938Thr)
|
|
|
NM_001376.5(DYNC1H1):c.2813T>G (p.Met938Arg)
|
rs2047964248
|
|
NM_001376.5(DYNC1H1):c.2820dup (p.Asp941fs)
|
rs1595602265
|
|
NM_001376.5(DYNC1H1):c.2828C>T (p.Pro943Leu)
|
|
|
NM_001376.5(DYNC1H1):c.2833G>A (p.Val945Ile)
|
rs2141276701
|
|
NM_001376.5(DYNC1H1):c.283G>A (p.Glu95Lys)
|
|
|
NM_001376.5(DYNC1H1):c.2851G>A (p.Gly951Arg)
|
rs2141276704
|
|
NM_001376.5(DYNC1H1):c.2860A>G (p.Lys954Glu)
|
rs2141276707
|
|
NM_001376.5(DYNC1H1):c.2872G>A (p.Val958Ile)
|
|
|
NM_001376.5(DYNC1H1):c.2878C>A (p.His960Asn)
|
|
|
NM_001376.5(DYNC1H1):c.2906T>G (p.Ile969Ser)
|
rs2141278577
|
|
NM_001376.5(DYNC1H1):c.290A>G (p.Glu97Gly)
|
|
|
NM_001376.5(DYNC1H1):c.2912T>A (p.Leu971Ter)
|
|
|
NM_001376.5(DYNC1H1):c.2923A>G (p.Ile975Val)
|
rs939424759
|
|
NM_001376.5(DYNC1H1):c.2951A>G (p.Gln984Arg)
|
rs2141278608
|
|
NM_001376.5(DYNC1H1):c.2956A>G (p.Met986Val)
|
|
|
NM_001376.5(DYNC1H1):c.295A>G (p.Ile99Val)
|
rs1595595758
|
|
NM_001376.5(DYNC1H1):c.2971A>G (p.Met991Val)
|
rs1057518524
|
|
NM_001376.5(DYNC1H1):c.2974G>A (p.Val992Ile)
|
|
|
NM_001376.5(DYNC1H1):c.2986C>G (p.Leu996Val)
|
rs1194361096
|
|
NM_001376.5(DYNC1H1):c.2987dup (p.Arg998fs)
|
rs2141278640
|
|
NM_001376.5(DYNC1H1):c.2989C>G (p.Pro997Ala)
|
|
|
NM_001376.5(DYNC1H1):c.2995A>T (p.Ile999Phe)
|
|
|
NM_001376.5(DYNC1H1):c.3020G>A (p.Gly1007Asp)
|
|
|
NM_001376.5(DYNC1H1):c.3031G>A (p.Glu1011Lys)
|
|
|
NM_001376.5(DYNC1H1):c.3037A>G (p.Thr1013Ala)
|
rs2141280415
|
|
NM_001376.5(DYNC1H1):c.3044A>G (p.Glu1015Gly)
|
|
|
NM_001376.5(DYNC1H1):c.3055T>A (p.Tyr1019Asn)
|
rs2048031484
|
|
NM_001376.5(DYNC1H1):c.305A>C (p.Asn102Thr)
|
rs1002004066
|
|
NM_001376.5(DYNC1H1):c.3064G>T (p.Ala1022Ser)
|
|
|
NM_001376.5(DYNC1H1):c.3078G>A (p.Met1026Ile)
|
rs2048031667
|
|
NM_001376.5(DYNC1H1):c.307A>G (p.Ile103Val)
|
|
|
NM_001376.5(DYNC1H1):c.3097C>G (p.Leu1033Val)
|
|
|
NM_001376.5(DYNC1H1):c.3098T>C (p.Leu1033Pro)
|
|
|
NM_001376.5(DYNC1H1):c.3100G>A (p.Glu1034Lys)
|
rs2048031969
|
|
NM_001376.5(DYNC1H1):c.311del (p.Asn104fs)
|
|
|
NM_001376.5(DYNC1H1):c.3121A>C (p.Met1041Leu)
|
rs867890249
|
|
NM_001376.5(DYNC1H1):c.3121A>T (p.Met1041Leu)
|
rs867890249
|
|
NM_001376.5(DYNC1H1):c.3122T>C (p.Met1041Thr)
|
|
|
NM_001376.5(DYNC1H1):c.3125G>A (p.Gly1042Asp)
|
rs2048032260
|
|
NM_001376.5(DYNC1H1):c.312C>G (p.Asn104Lys)
|
|
|
NM_001376.5(DYNC1H1):c.313A>T (p.Ile105Leu)
|
rs778763364
|
|
NM_001376.5(DYNC1H1):c.3156+3A>G
|
|
|
NM_001376.5(DYNC1H1):c.3156+6A>G
|
|
|
NM_001376.5(DYNC1H1):c.3157-3C>A
|
|
|
NM_001376.5(DYNC1H1):c.3170A>G (p.Tyr1057Cys)
|
rs2048038246
|
|
NM_001376.5(DYNC1H1):c.3183G>C (p.Trp1061Cys)
|
|
|
NM_001376.5(DYNC1H1):c.3193G>A (p.Ala1065Thr)
|
rs2141280767
|
|
NM_001376.5(DYNC1H1):c.3222A>C (p.Glu1074Asp)
|
rs2048038698
|
|
NM_001376.5(DYNC1H1):c.3225T>A (p.Asp1075Glu)
|
|
|
NM_001376.5(DYNC1H1):c.323A>G (p.His108Arg)
|
|
|
NM_001376.5(DYNC1H1):c.3241G>C (p.Ala1081Pro)
|
|
|
NM_001376.5(DYNC1H1):c.3250G>A (p.Val1084Ile)
|
|
|
NM_001376.5(DYNC1H1):c.3277T>C (p.Phe1093Leu)
|
|
|
NM_001376.5(DYNC1H1):c.3287C>T (p.Ala1096Val)
|
rs2048039336
|
|
NM_001376.5(DYNC1H1):c.3313G>T (p.Val1105Leu)
|
|
|
NM_001376.5(DYNC1H1):c.3320T>C (p.Ile1107Thr)
|
|
|
NM_001376.5(DYNC1H1):c.3325T>A (p.Tyr1109Asn)
|
rs2048039792
|
|
NM_001376.5(DYNC1H1):c.3371A>G (p.His1124Arg)
|
|
|
NM_001376.5(DYNC1H1):c.3378G>C (p.Glu1126Asp)
|
|
|
NM_001376.5(DYNC1H1):c.3379G>T (p.Val1127Phe)
|
rs2048042790
|
|
NM_001376.5(DYNC1H1):c.3400A>T (p.Met1134Leu)
|
|
|
NM_001376.5(DYNC1H1):c.3403C>G (p.Leu1135Val)
|
rs2141280981
|
|
NM_001376.5(DYNC1H1):c.3412A>G (p.Asn1138Asp)
|
|
|
NM_001376.5(DYNC1H1):c.3423A>C (p.Glu1141Asp)
|
rs2048043377
|
|
NM_001376.5(DYNC1H1):c.343A>G (p.Ser115Gly)
|
rs2141266719
|
|
NM_001376.5(DYNC1H1):c.3479C>T (p.Thr1160Met)
|
rs200290958
|
|
NM_001376.5(DYNC1H1):c.3493G>A (p.Asp1165Asn)
|
|
|
NM_001376.5(DYNC1H1):c.3499G>T (p.Val1167Leu)
|
|
|
NM_001376.5(DYNC1H1):c.34G>C (p.Gly12Arg)
|
rs2047643021
|
|
NM_001376.5(DYNC1H1):c.3503C>G (p.Thr1168Ser)
|
rs2141281089
|
|
NM_001376.5(DYNC1H1):c.3511A>G (p.Thr1171Ala)
|
rs2141281094
|
|
NM_001376.5(DYNC1H1):c.3515A>C (p.Tyr1172Ser)
|
|
|
NM_001376.5(DYNC1H1):c.3515A>G (p.Tyr1172Cys)
|
rs775012149
|
|
NM_001376.5(DYNC1H1):c.3515A>T (p.Tyr1172Phe)
|
|
|
NM_001376.5(DYNC1H1):c.3521A>G (p.Gln1174Arg)
|
|
|
NM_001376.5(DYNC1H1):c.3560T>C (p.Val1187Ala)
|
rs2141281137
|
|
NM_001376.5(DYNC1H1):c.3564+14A>G
|
|
|
NM_001376.5(DYNC1H1):c.3564+6C>G
|
|
|
NM_001376.5(DYNC1H1):c.3571C>A (p.Arg1191Ser)
|
rs774198261
|
|
NM_001376.5(DYNC1H1):c.3574A>C (p.Asn1192His)
|
rs1265590172
|
|
NM_001376.5(DYNC1H1):c.3580C>T (p.Gln1194Ter)
|
|
|
NM_001376.5(DYNC1H1):c.3584G>A (p.Arg1195His)
|
|
|
NM_001376.5(DYNC1H1):c.3598C>A (p.Gln1200Lys)
|
rs2141282625
|
|
NM_001376.5(DYNC1H1):c.3616C>G (p.Pro1206Ala)
|
|
|
NM_001376.5(DYNC1H1):c.361C>G (p.Arg121Gly)
|
rs2141269354
|
|
NM_001376.5(DYNC1H1):c.362G>A (p.Arg121His)
|
|
|
NM_001376.5(DYNC1H1):c.3632T>C (p.Ile1211Thr)
|
rs2048071348
|
|
NM_001376.5(DYNC1H1):c.3633T>A (p.Ile1211=)
|
rs2141282643
|
|
NM_001376.5(DYNC1H1):c.3642C>A (p.Ile1214=)
|
rs778273904
|
|
NM_001376.5(DYNC1H1):c.3643G>A (p.Glu1215Lys)
|
|
|
NM_001376.5(DYNC1H1):c.3665A>G (p.Asn1222Ser)
|
rs2048071678
|
|
NM_001376.5(DYNC1H1):c.3676C>T (p.Arg1226Trp)
|
|
|
NM_001376.5(DYNC1H1):c.3680G>A (p.Arg1227Gln)
|
rs2048071941
|
|
NM_001376.5(DYNC1H1):c.3689C>G (p.Ser1230Cys)
|
rs2048071968
|
|
NM_001376.5(DYNC1H1):c.3730del (p.Val1244fs)
|
|
|
NM_001376.5(DYNC1H1):c.3734A>G (p.Gln1245Arg)
|
rs2141282700
|
|
NM_001376.5(DYNC1H1):c.3742C>T (p.Arg1248Trp)
|
rs1217320477
|
|
NM_001376.5(DYNC1H1):c.3748G>A (p.Val1250Met)
|
|
|
NM_001376.5(DYNC1H1):c.3748G>T (p.Val1250Leu)
|
rs369914512
|
|
NM_001376.5(DYNC1H1):c.3795G>T (p.Lys1265Asn)
|
rs1555408996
|
|
NM_001376.5(DYNC1H1):c.3803C>A (p.Thr1268Lys)
|
|
|
NM_001376.5(DYNC1H1):c.3803C>T (p.Thr1268Met)
|
rs751865408
|
|
NM_001376.5(DYNC1H1):c.3803_3804+1dup
|
|
|
NM_001376.5(DYNC1H1):c.3809A>C (p.Asn1270Thr)
|
rs1246328675
|
|
NM_001376.5(DYNC1H1):c.3846A>G (p.Ile1282Met)
|
|
|
NM_001376.5(DYNC1H1):c.3847T>C (p.Tyr1283His)
|
rs2141285009
|
|
NM_001376.5(DYNC1H1):c.386A>C (p.Lys129Thr)
|
|
|
NM_001376.5(DYNC1H1):c.3877G>A (p.Asp1293Asn)
|
|
|
NM_001376.5(DYNC1H1):c.388C>A (p.Pro130Thr)
|
|
|
NM_001376.5(DYNC1H1):c.3908C>T (p.Ala1303Val)
|
|
|
NM_001376.5(DYNC1H1):c.3937A>G (p.Ser1313Gly)
|
|
|
NM_001376.5(DYNC1H1):c.3953G>A (p.Arg1318His)
|
|
|
NM_001376.5(DYNC1H1):c.3959A>C (p.Gln1320Pro)
|
|
|
NM_001376.5(DYNC1H1):c.3960+1G>C
|
|
|
NM_001376.5(DYNC1H1):c.3960+4T>C
|
|
|
NM_001376.5(DYNC1H1):c.3961-3C>T
|
rs113172372
|
|
NM_001376.5(DYNC1H1):c.3965C>T (p.Ala1322Val)
|
rs2141285225
|
|
NM_001376.5(DYNC1H1):c.3970G>A (p.Glu1324Lys)
|
rs2141285228
|
|
NM_001376.5(DYNC1H1):c.4000T>G (p.Ser1334Ala)
|
|
|
NM_001376.5(DYNC1H1):c.4012A>G (p.Lys1338Glu)
|
|
|
NM_001376.5(DYNC1H1):c.4016T>C (p.Val1339Ala)
|
|
|
NM_001376.5(DYNC1H1):c.4030G>A (p.Asp1344Asn)
|
rs575285403
|
|
NM_001376.5(DYNC1H1):c.4037T>C (p.Met1346Thr)
|
|
|
NM_001376.5(DYNC1H1):c.4070G>A (p.Arg1357Gln)
|
|
|
NM_001376.5(DYNC1H1):c.4074+4_4074+5delinsAT
|
rs2141285280
|
|
NM_001376.5(DYNC1H1):c.4075-15T>A
|
|
|
NM_001376.5(DYNC1H1):c.4075-15del
|
|
|
NM_001376.5(DYNC1H1):c.4079G>A (p.Arg1360Gln)
|
|
|
NM_001376.5(DYNC1H1):c.4107G>T (p.Gln1369His)
|
|
|
NM_001376.5(DYNC1H1):c.4133G>A (p.Arg1378Gln)
|
rs2048124807
|
|
NM_001376.5(DYNC1H1):c.4139A>G (p.Tyr1380Cys)
|
|
|
NM_001376.5(DYNC1H1):c.4142C>T (p.Ala1381Val)
|
|
|
NM_001376.5(DYNC1H1):c.4148A>G (p.Tyr1383Cys)
|
rs2141285806
|
|
NM_001376.5(DYNC1H1):c.4172A>G (p.Lys1391Arg)
|
|
|
NM_001376.5(DYNC1H1):c.4173A>C (p.Lys1391Asn)
|
rs1555409283
|
|
NM_001376.5(DYNC1H1):c.4190A>G (p.Asn1397Ser)
|
|
|
NM_001376.5(DYNC1H1):c.4193T>C (p.Met1398Thr)
|
rs1567006255
|
|
NM_001376.5(DYNC1H1):c.4196T>A (p.Leu1399Gln)
|
rs2048126271
|
|
NM_001376.5(DYNC1H1):c.4202T>C (p.Ile1401Thr)
|
|
|
NM_001376.5(DYNC1H1):c.4222C>G (p.Leu1408Val)
|
|
|
NM_001376.5(DYNC1H1):c.4227A>C (p.Lys1409Asn)
|
rs1941718258
|
|
NM_001376.5(DYNC1H1):c.4231C>T (p.Arg1411Cys)
|
rs1567006266
|
|
NM_001376.5(DYNC1H1):c.4232G>A (p.Arg1411His)
|
|
|
NM_001376.5(DYNC1H1):c.4242A>C (p.Lys1414Asn)
|
|
|
NM_001376.5(DYNC1H1):c.4249A>T (p.Met1417Leu)
|
|
|
NM_001376.5(DYNC1H1):c.4250T>C (p.Met1417Thr)
|
|
|
NM_001376.5(DYNC1H1):c.4257G>C (p.Arg1419Ser)
|
rs2048126705
|
|
NM_001376.5(DYNC1H1):c.4276G>T (p.Val1426Phe)
|
|
|
NM_001376.5(DYNC1H1):c.4282G>A (p.Glu1428Lys)
|
rs2048126921
|
|
NM_001376.5(DYNC1H1):c.4289C>A (p.Thr1430Asn)
|
rs1171366952
|
|
NM_001376.5(DYNC1H1):c.4291del (p.Gly1432fs)
|
|
|
NM_001376.5(DYNC1H1):c.4315T>G (p.Leu1439Val)
|
rs2048127456
|
|
NM_001376.5(DYNC1H1):c.431C>T (p.Ser144Leu)
|
|
|
NM_001376.5(DYNC1H1):c.4351C>G (p.Leu1451Val)
|
|
|
NM_001376.5(DYNC1H1):c.4382A>G (p.Glu1461Gly)
|
|
|
NM_001376.5(DYNC1H1):c.4384T>A (p.Phe1462Ile)
|
|
|
NM_001376.5(DYNC1H1):c.4410G>A (p.Trp1470Ter)
|
|
|
NM_001376.5(DYNC1H1):c.4435A>C (p.Asn1479His)
|
|
|
NM_001376.5(DYNC1H1):c.4453C>T (p.Arg1485Cys)
|
|
|
NM_001376.5(DYNC1H1):c.4461C>G (p.Ile1487Met)
|
|
|
NM_001376.5(DYNC1H1):c.4471G>A (p.Asp1491Asn)
|
|
|
NM_001376.5(DYNC1H1):c.4482C>G (p.Phe1494Leu)
|
|
|
NM_001376.5(DYNC1H1):c.4502T>C (p.Ile1501Thr)
|
|
|
NM_001376.5(DYNC1H1):c.4505A>G (p.Asn1502Ser)
|
|
|
NM_001376.5(DYNC1H1):c.4514C>T (p.Ser1505Leu)
|
|
|
NM_001376.5(DYNC1H1):c.4525C>T (p.Leu1509Phe)
|
|
|
NM_001376.5(DYNC1H1):c.4542+6G>T
|
rs375822798
|
|
NM_001376.5(DYNC1H1):c.4572A>T (p.Glu1524Asp)
|
rs2048144507
|
|
NM_001376.5(DYNC1H1):c.4573G>C (p.Asp1525His)
|
|
|
NM_001376.5(DYNC1H1):c.4594G>A (p.Ala1532Thr)
|
|
|
NM_001376.5(DYNC1H1):c.461G>A (p.Ser154Asn)
|
|
|
NM_001376.5(DYNC1H1):c.4624A>G (p.Arg1542Gly)
|
rs1567006939
|
|
NM_001376.5(DYNC1H1):c.4709+6G>T
|
rs1555409403
|
|
NM_001376.5(DYNC1H1):c.4710-6T>A
|
|
|
NM_001376.5(DYNC1H1):c.473C>T (p.Ala158Val)
|
|
|
NM_001376.5(DYNC1H1):c.4744G>A (p.Val1582Met)
|
|
|
NM_001376.5(DYNC1H1):c.4759C>G (p.Leu1587Val)
|
rs866469461
|
|
NM_001376.5(DYNC1H1):c.4784A>G (p.Gln1595Arg)
|
|
|
NM_001376.5(DYNC1H1):c.4811T>G (p.Leu1604Trp)
|
rs2141287084
|
|
NM_001376.5(DYNC1H1):c.4838A>G (p.Lys1613Arg)
|
|
|
NM_001376.5(DYNC1H1):c.4864G>C (p.Glu1622Gln)
|
|
|
NM_001376.5(DYNC1H1):c.4889A>G (p.Tyr1630Cys)
|
rs2048174582
|
|
NM_001376.5(DYNC1H1):c.491A>G (p.Tyr164Cys)
|
|
|
NM_001376.5(DYNC1H1):c.4944del (p.Lys1649fs)
|
|
|
NM_001376.5(DYNC1H1):c.499G>A (p.Glu167Lys)
|
rs1057031512
|
|
NM_001376.5(DYNC1H1):c.5007T>A (p.Asp1669Glu)
|
|
|
NM_001376.5(DYNC1H1):c.5008A>C (p.Asn1670His)
|
|
|
NM_001376.5(DYNC1H1):c.5015_5016delinsCA (p.Val1672Ala)
|
|
|
NM_001376.5(DYNC1H1):c.5049+5A>G
|
rs2048176551
|
|
NM_001376.5(DYNC1H1):c.5049+5del
|
rs936106375
|
|
NM_001376.5(DYNC1H1):c.5053A>G (p.Met1685Val)
|
rs1555409556
|
|
NM_001376.5(DYNC1H1):c.50A>G (p.Glu17Gly)
|
|
|
NM_001376.5(DYNC1H1):c.5123A>T (p.Glu1708Val)
|
rs2141288705
|
|
NM_001376.5(DYNC1H1):c.5165C>T (p.Thr1722Met)
|
rs1555409563
|
|
NM_001376.5(DYNC1H1):c.517A>G (p.Arg173Gly)
|
rs1465527547
|
|
NM_001376.5(DYNC1H1):c.518+4A>G
|
|
|
NM_001376.5(DYNC1H1):c.5191A>G (p.Thr1731Ala)
|
|
|
NM_001376.5(DYNC1H1):c.5192C>T (p.Thr1731Ile)
|
rs2141288753
|
|
NM_001376.5(DYNC1H1):c.5195C>G (p.Ser1732Ter)
|
|
|
NM_001376.5(DYNC1H1):c.5203C>T (p.Pro1735Ser)
|
|
|
NM_001376.5(DYNC1H1):c.5209A>G (p.Thr1737Ala)
|
rs1064797192
|
|
NM_001376.5(DYNC1H1):c.5218A>G (p.Thr1740Ala)
|
|
|
NM_001376.5(DYNC1H1):c.521A>T (p.Asp174Val)
|
rs1595597551
|
|
NM_001376.5(DYNC1H1):c.5237A>G (p.Gln1746Arg)
|
|
|
NM_001376.5(DYNC1H1):c.5240C>G (p.Ala1747Gly)
|
|
|
NM_001376.5(DYNC1H1):c.5248G>T (p.Val1750Leu)
|
|
|
NM_001376.5(DYNC1H1):c.5263C>A (p.Gln1755Lys)
|
|
|
NM_001376.5(DYNC1H1):c.5272T>C (p.Trp1758Arg)
|
|
|
NM_001376.5(DYNC1H1):c.5276_5316del (p.Ser1759fs)
|
|
|
NM_001376.5(DYNC1H1):c.5282A>G (p.Asn1761Ser)
|
rs2048181510
|
|
NM_001376.5(DYNC1H1):c.5291C>T (p.Thr1764Ile)
|
rs2141288926
|
|
NM_001376.5(DYNC1H1):c.5303G>T (p.Ser1768Ile)
|
|
|
NM_001376.5(DYNC1H1):c.5304C>G (p.Ser1768Arg)
|
|
|
NM_001376.5(DYNC1H1):c.5307G>C (p.Met1769Ile)
|
rs2141288959
|
|
NM_001376.5(DYNC1H1):c.5365C>G (p.Leu1789Val)
|
|
|
NM_001376.5(DYNC1H1):c.5405C>A (p.Pro1802Gln)
|
rs1346194464
|
|
NM_001376.5(DYNC1H1):c.5417G>A (p.Arg1806Gln)
|
rs2048183544
|
|
NM_001376.5(DYNC1H1):c.5432T>C (p.Leu1811Ser)
|
|
|
NM_001376.5(DYNC1H1):c.5433G>A (p.Leu1811=)
|
|
|
NM_001376.5(DYNC1H1):c.5433_5433+27dup
|
rs1382359405
|
|
NM_001376.5(DYNC1H1):c.544G>T (p.Val182Phe)
|
|
|
NM_001376.5(DYNC1H1):c.5485A>C (p.Lys1829Gln)
|
|
|
NM_001376.5(DYNC1H1):c.5486A>G (p.Lys1829Arg)
|
rs2141289585
|
|
NM_001376.5(DYNC1H1):c.5495del (p.Asn1832fs)
|
rs1555409622
|
|
NM_001376.5(DYNC1H1):c.5500A>C (p.Lys1834Gln)
|
|
|
NM_001376.5(DYNC1H1):c.5504C>A (p.Ser1835Tyr)
|
|
|
NM_001376.5(DYNC1H1):c.5515C>G (p.Leu1839Val)
|
|
|
NM_001376.5(DYNC1H1):c.5519G>T (p.Ser1840Ile)
|
rs2141289622
|
|
NM_001376.5(DYNC1H1):c.5527C>T (p.Arg1843Ter)
|
rs2048192622
|
|
NM_001376.5(DYNC1H1):c.5533T>C (p.Tyr1845His)
|
rs2141289638
|
|
NM_001376.5(DYNC1H1):c.5551A>T (p.Thr1851Ser)
|
|
|
NM_001376.5(DYNC1H1):c.5572T>A (p.Ser1858Thr)
|
|
|
NM_001376.5(DYNC1H1):c.5594A>C (p.Lys1865Thr)
|
|
|
NM_001376.5(DYNC1H1):c.5595A>T (p.Lys1865Asn)
|
|
|
NM_001376.5(DYNC1H1):c.5624T>C (p.Val1875Ala)
|
|
|
NM_001376.5(DYNC1H1):c.5626C>G (p.Gln1876Glu)
|
|
|
NM_001376.5(DYNC1H1):c.5650dup (p.Leu1884fs)
|
|
|
NM_001376.5(DYNC1H1):c.5659C>A (p.Arg1887Ser)
|
|
|
NM_001376.5(DYNC1H1):c.5717-3C>T
|
|
|
NM_001376.5(DYNC1H1):c.5717-7T>G
|
rs2141290370
|
|
NM_001376.5(DYNC1H1):c.5766G>C (p.Gln1922His)
|
|
|
NM_001376.5(DYNC1H1):c.5773C>T (p.Arg1925Trp)
|
|
|
NM_001376.5(DYNC1H1):c.5797G>A (p.Asp1933Asn)
|
|
|
NM_001376.5(DYNC1H1):c.5828G>A (p.Arg1943Gln)
|
rs372377918
|
|
NM_001376.5(DYNC1H1):c.5828G>T (p.Arg1943Leu)
|
rs372377918
|
|
NM_001376.5(DYNC1H1):c.5861G>A (p.Trp1954Ter)
|
|
|
NM_001376.5(DYNC1H1):c.5873A>G (p.Asp1958Gly)
|
|
|
NM_001376.5(DYNC1H1):c.5906C>T (p.Ser1969Leu)
|
rs2141291313
|
|
NM_001376.5(DYNC1H1):c.5945T>G (p.Leu1982Arg)
|
|
|
NM_001376.5(DYNC1H1):c.5960A>T (p.Asn1987Ile)
|
rs957164618
|
|
NM_001376.5(DYNC1H1):c.5971_5973del (p.Asp1991del)
|
rs1278877639
|
|
NM_001376.5(DYNC1H1):c.5977+6A>C
|
|
|
NM_001376.5(DYNC1H1):c.598A>G (p.Ile200Val)
|
rs1566996430
|
|
NM_001376.5(DYNC1H1):c.6011A>G (p.Lys2004Arg)
|
|
|
NM_001376.5(DYNC1H1):c.6026G>T (p.Ser2009Ile)
|
|
|
NM_001376.5(DYNC1H1):c.6028C>G (p.Pro2010Ala)
|
rs2048239251
|
|
NM_001376.5(DYNC1H1):c.6034A>G (p.Met2012Val)
|
|
|
NM_001376.5(DYNC1H1):c.6043T>C (p.Phe2015Leu)
|
rs2152577497
|
|
NM_001376.5(DYNC1H1):c.6044T>C (p.Phe2015Ser)
|
rs2048239365
|
|
NM_001376.5(DYNC1H1):c.6068C>T (p.Ala2023Val)
|
|
|
NM_001376.5(DYNC1H1):c.608C>T (p.Pro203Leu)
|
|
|
NM_001376.5(DYNC1H1):c.6092A>G (p.Asn2031Ser)
|
|
|
NM_001376.5(DYNC1H1):c.6109C>T (p.Arg2037Trp)
|
rs2048239679
|
|
NM_001376.5(DYNC1H1):c.6125C>A (p.Thr2042Asn)
|
|
|
NM_001376.5(DYNC1H1):c.6133G>A (p.Asp2045Asn)
|
|
|
NM_001376.5(DYNC1H1):c.6137G>A (p.Arg2046Gln)
|
|
|
NM_001376.5(DYNC1H1):c.6208G>A (p.Val2070Ile)
|
|
|
NM_001376.5(DYNC1H1):c.6215T>C (p.Phe2072Ser)
|
|
|
NM_001376.5(DYNC1H1):c.624_625delinsAG (p.Ile209Val)
|
rs1555407906
|
|
NM_001376.5(DYNC1H1):c.6272G>C (p.Arg2091Pro)
|
|
|
NM_001376.5(DYNC1H1):c.6274G>T (p.Ala2092Ser)
|
|
|
NM_001376.5(DYNC1H1):c.6287_6288del (p.Val2096fs)
|
|
|
NM_001376.5(DYNC1H1):c.6307G>A (p.Val2103Met)
|
|
|
NM_001376.5(DYNC1H1):c.6333A>G (p.Ile2111Met)
|
|
|
NM_001376.5(DYNC1H1):c.6343A>C (p.Lys2115Gln)
|
rs2152577826
|
|
NM_001376.5(DYNC1H1):c.6347A>G (p.Glu2116Gly)
|
|
|
NM_001376.5(DYNC1H1):c.634A>T (p.Met212Leu)
|
|
|
NM_001376.5(DYNC1H1):c.6353G>A (p.Arg2118Gln)
|
rs1060502207
|
|
NM_001376.5(DYNC1H1):c.6355G>C (p.Gly2119Arg)
|
rs1595614266
|
|
NM_001376.5(DYNC1H1):c.636G>A (p.Met212Ile)
|
|
|
NM_001376.5(DYNC1H1):c.6376G>A (p.Glu2126Lys)
|
|
|
NM_001376.5(DYNC1H1):c.6381T>G (p.Ile2127Met)
|
|
|
NM_001376.5(DYNC1H1):c.6382G>A (p.Ala2128Thr)
|
|
|
NM_001376.5(DYNC1H1):c.6405+4_6405+44del
|
rs1266891331
|
|
NM_001376.5(DYNC1H1):c.641C>T (p.Thr214Ile)
|
rs2141269742
|
|
NM_001376.5(DYNC1H1):c.6431C>T (p.Thr2144Met)
|
|
|
NM_001376.5(DYNC1H1):c.6446T>G (p.Leu2149Arg)
|
|
|
NM_001376.5(DYNC1H1):c.6464C>T (p.Pro2155Leu)
|
rs1390255004
|
|
NM_001376.5(DYNC1H1):c.6507G>T (p.Gln2169His)
|
rs2152578187
|
|
NM_001376.5(DYNC1H1):c.6511C>T (p.His2171Tyr)
|
rs1060502208
|
|
NM_001376.5(DYNC1H1):c.6517G>A (p.Gly2173Ser)
|
rs2152578197
|
|
NM_001376.5(DYNC1H1):c.6541G>C (p.Glu2181Gln)
|
|
|
NM_001376.5(DYNC1H1):c.6550A>G (p.Lys2184Glu)
|
rs2152578236
|
|
NM_001376.5(DYNC1H1):c.6593A>C (p.Glu2198Ala)
|
|
|
NM_001376.5(DYNC1H1):c.65A>G (p.Gln22Arg)
|
rs2141258494
|
|
NM_001376.5(DYNC1H1):c.6604A>C (p.Met2202Leu)
|
|
|
NM_001376.5(DYNC1H1):c.6611T>C (p.Val2204Ala)
|
|
|
NM_001376.5(DYNC1H1):c.6618+5C>T
|
rs777017923
|
|
NM_001376.5(DYNC1H1):c.6618+6_6618+7del
|
|
|
NM_001376.5(DYNC1H1):c.6619-10G>A
|
|
|
NM_001376.5(DYNC1H1):c.6636G>T (p.Gln2212His)
|
rs2048263087
|
|
NM_001376.5(DYNC1H1):c.6703C>T (p.Arg2235Cys)
|
rs2048263659
|
|
NM_001376.5(DYNC1H1):c.6718G>T (p.Ala2240Ser)
|
|
|
NM_001376.5(DYNC1H1):c.6724G>T (p.Glu2242Ter)
|
|
|
NM_001376.5(DYNC1H1):c.6745G>A (p.Gly2249Ser)
|
|
|
NM_001376.5(DYNC1H1):c.6779G>A (p.Ser2260Asn)
|
|
|
NM_001376.5(DYNC1H1):c.682A>G (p.Lys228Glu)
|
rs2141269775
|
|
NM_001376.5(DYNC1H1):c.684A>C (p.Lys228Asn)
|
rs1232919238
|
|
NM_001376.5(DYNC1H1):c.6858-14T>A
|
|
|
NM_001376.5(DYNC1H1):c.6858-9C>G
|
|
|
NM_001376.5(DYNC1H1):c.6862A>G (p.Ile2288Val)
|
rs1567010983
|
|
NM_001376.5(DYNC1H1):c.6865G>A (p.Asp2289Asn)
|
|
|
NM_001376.5(DYNC1H1):c.6883_6884delinsGG (p.Leu2295Gly)
|
rs2152579373
|
|
NM_001376.5(DYNC1H1):c.6892C>T (p.Arg2298Cys)
|
rs2152579378
|
|
NM_001376.5(DYNC1H1):c.6896A>C (p.Gln2299Pro)
|
|
|
NM_001376.5(DYNC1H1):c.6910G>A (p.Asp2304Asn)
|
|
|
NM_001376.5(DYNC1H1):c.6928G>A (p.Glu2310Lys)
|
|
|
NM_001376.5(DYNC1H1):c.6933G>A (p.Trp2311Ter)
|
|
|
NM_001376.5(DYNC1H1):c.694T>G (p.Phe232Val)
|
|
|
NM_001376.5(DYNC1H1):c.6964A>G (p.Asn2322Asp)
|
|
|
NM_001376.5(DYNC1H1):c.6977C>G (p.Thr2326Ser)
|
|
|
NM_001376.5(DYNC1H1):c.6997C>T (p.Leu2333Phe)
|
rs1131691358
|
|
NM_001376.5(DYNC1H1):c.7000A>T (p.Ser2334Cys)
|
|
|
NM_001376.5(DYNC1H1):c.7003C>A (p.Leu2335Ile)
|
|
|
NM_001376.5(DYNC1H1):c.7007C>T (p.Pro2336Leu)
|
|
|
NM_001376.5(DYNC1H1):c.7014+3A>G
|
rs1426193095
|
|
NM_001376.5(DYNC1H1):c.7014T>C (p.Asn2338=)
|
|
|
NM_001376.5(DYNC1H1):c.701A>G (p.Asp234Gly)
|
|
|
NM_001376.5(DYNC1H1):c.7047A>C (p.Lys2349Asn)
|
rs765427772
|
|
NM_001376.5(DYNC1H1):c.7052C>T (p.Ala2351Val)
|
|
|
NM_001376.5(DYNC1H1):c.7060G>A (p.Ala2354Thr)
|
|
|
NM_001376.5(DYNC1H1):c.7070C>T (p.Ser2357Leu)
|
|
|
NM_001376.5(DYNC1H1):c.7072C>T (p.Arg2358Cys)
|
rs879254019
|
|
NM_001376.5(DYNC1H1):c.7118T>A (p.Met2373Lys)
|
|
|
NM_001376.5(DYNC1H1):c.7125C>A (p.Phe2375Leu)
|
|
|
NM_001376.5(DYNC1H1):c.7139C>T (p.Ala2380Val)
|
|
|
NM_001376.5(DYNC1H1):c.7148G>T (p.Arg2383Leu)
|
|
|
NM_001376.5(DYNC1H1):c.7189C>T (p.Arg2397Trp)
|
rs1595616794
|
|
NM_001376.5(DYNC1H1):c.7193G>C (p.Arg2398Pro)
|
rs912429154
|
|
NM_001376.5(DYNC1H1):c.719C>T (p.Thr240Ile)
|
|
|
NM_001376.5(DYNC1H1):c.7209T>A (p.Asp2403Glu)
|
rs2048307376
|
|
NM_001376.5(DYNC1H1):c.7212G>T (p.Glu2404Asp)
|
|
|
NM_001376.5(DYNC1H1):c.7213G>C (p.Gly2405Arg)
|
|
|
NM_001376.5(DYNC1H1):c.7218G>C (p.Glu2406Asp)
|
rs2152581615
|
|
NM_001376.5(DYNC1H1):c.7235T>C (p.Met2412Thr)
|
rs1296667481
|
|
NM_001376.5(DYNC1H1):c.7250G>A (p.Arg2417Lys)
|
rs927181915
|
|
NM_001376.5(DYNC1H1):c.7267A>G (p.Met2423Val)
|
|
|
NM_001376.5(DYNC1H1):c.7268T>C (p.Met2423Thr)
|
|
|
NM_001376.5(DYNC1H1):c.7289A>G (p.Asn2430Ser)
|
rs2152581954
|
|
NM_001376.5(DYNC1H1):c.7300A>C (p.Thr2434Pro)
|
rs2152581974
|
|
NM_001376.5(DYNC1H1):c.730C>G (p.Gln244Glu)
|
rs2047843892
|
|
NM_001376.5(DYNC1H1):c.7318G>A (p.Ala2440Thr)
|
rs757980661
|
|
NM_001376.5(DYNC1H1):c.731A>G (p.Gln244Arg)
|
|
|
NM_001376.5(DYNC1H1):c.7336A>T (p.Ile2446Phe)
|
|
|
NM_001376.5(DYNC1H1):c.7352G>A (p.Arg2451His)
|
|
|
NM_001376.5(DYNC1H1):c.7357C>T (p.Arg2453Cys)
|
|
|
NM_001376.5(DYNC1H1):c.7366G>A (p.Gly2456Ser)
|
|
|
NM_001376.5(DYNC1H1):c.7370C>T (p.Ser2457Leu)
|
rs2152582020
|
|
NM_001376.5(DYNC1H1):c.7372C>T (p.Leu2458Phe)
|
rs1161281176
|
|
NM_001376.5(DYNC1H1):c.7392G>A (p.Gln2464=)
|
rs2152582036
|
|
NM_001376.5(DYNC1H1):c.739T>C (p.Ser247Pro)
|
|
|
NM_001376.5(DYNC1H1):c.73_74delinsAA (p.Ala25Lys)
|
rs1595590120
|
|
NM_001376.5(DYNC1H1):c.7400G>A (p.Arg2467His)
|
rs1441059709
|
|
NM_001376.5(DYNC1H1):c.7400G>T (p.Arg2467Leu)
|
|
|
NM_001376.5(DYNC1H1):c.7405G>A (p.Val2469Met)
|
rs2152582047
|
|
NM_001376.5(DYNC1H1):c.7412A>G (p.Gln2471Arg)
|
|
|
NM_001376.5(DYNC1H1):c.7426C>T (p.His2476Tyr)
|
|
|
NM_001376.5(DYNC1H1):c.7434C>A (p.Asp2478Glu)
|
|
|
NM_001376.5(DYNC1H1):c.7438C>G (p.Pro2480Ala)
|
rs1018948570
|
|
NM_001376.5(DYNC1H1):c.7439C>T (p.Pro2480Leu)
|
rs1229845145
|
|
NM_001376.5(DYNC1H1):c.7473+3C>T
|
rs2048318089
|
|
NM_001376.5(DYNC1H1):c.7473+6G>T
|
|
|
NM_001376.5(DYNC1H1):c.7474-12C>T
|
|
|
NM_001376.5(DYNC1H1):c.7474-3T>A
|
|
|
NM_001376.5(DYNC1H1):c.7474C>A (p.Arg2492=)
|
|
|
NM_001376.5(DYNC1H1):c.7492A>T (p.Ile2498Leu)
|
|
|
NM_001376.5(DYNC1H1):c.7502C>T (p.Ser2501Phe)
|
rs2152582351
|
|
NM_001376.5(DYNC1H1):c.751C>G (p.Arg251Gly)
|
rs879253979
|
|
NM_001376.5(DYNC1H1):c.7529T>C (p.Met2510Thr)
|
|
|
NM_001376.5(DYNC1H1):c.7543G>A (p.Gly2515Ser)
|
rs753894340
|
|
NM_001376.5(DYNC1H1):c.7559G>A (p.Arg2520Lys)
|
rs985261953
|
|
NM_001376.5(DYNC1H1):c.7582A>G (p.Thr2528Ala)
|
|
|
NM_001376.5(DYNC1H1):c.7594A>G (p.Ile2532Val)
|
|
|
NM_001376.5(DYNC1H1):c.7600A>G (p.Ile2534Val)
|
rs1778579601
|
|
NM_001376.5(DYNC1H1):c.7614+6C>T
|
rs1567012532
|
|
NM_001376.5(DYNC1H1):c.7621A>G (p.Ile2541Val)
|
|
|
NM_001376.5(DYNC1H1):c.7640C>T (p.Pro2547Leu)
|
rs1057518888
|
|
NM_001376.5(DYNC1H1):c.7649C>T (p.Ala2550Val)
|
|
|
NM_001376.5(DYNC1H1):c.7679A>G (p.His2560Arg)
|
rs1567012734
|
|
NM_001376.5(DYNC1H1):c.7711A>G (p.Thr2571Ala)
|
|
|
NM_001376.5(DYNC1H1):c.7726C>T (p.Arg2576Cys)
|
rs2048329586
|
|
NM_001376.5(DYNC1H1):c.7727G>A (p.Arg2576His)
|
rs756288729
|
|
NM_001376.5(DYNC1H1):c.7729C>T (p.His2577Tyr)
|
|
|
NM_001376.5(DYNC1H1):c.7732G>A (p.Glu2578Lys)
|
rs749628606
|
|
NM_001376.5(DYNC1H1):c.774+2_774+5del
|
|
|
NM_001376.5(DYNC1H1):c.7768C>G (p.Pro2590Ala)
|
rs2152582733
|
|
NM_001376.5(DYNC1H1):c.7789C>T (p.Pro2597Ser)
|
rs2048330369
|
|
NM_001376.5(DYNC1H1):c.780_788del (p.Lys261_Asp263del)
|
|
|
NM_001376.5(DYNC1H1):c.7825C>T (p.Leu2609Phe)
|
|
|
NM_001376.5(DYNC1H1):c.7828C>T (p.Arg2610Trp)
|
|
|
NM_001376.5(DYNC1H1):c.7843A>C (p.Met2615Leu)
|
rs1207825074
|
|
NM_001376.5(DYNC1H1):c.7848+6G>C
|
|
|
NM_001376.5(DYNC1H1):c.7849-7T>G
|
rs2048332125
|
|
NM_001376.5(DYNC1H1):c.7851G>A (p.Val2617=)
|
rs1041508059
|
|
NM_001376.5(DYNC1H1):c.7879A>G (p.Thr2627Ala)
|
|
|
NM_001376.5(DYNC1H1):c.7905del (p.Phe2635fs)
|
rs2048332709
|
|
NM_001376.5(DYNC1H1):c.790C>T (p.Arg264Ter)
|
|
|
NM_001376.5(DYNC1H1):c.7912T>C (p.Tyr2638His)
|
rs2048332764
|
|
NM_001376.5(DYNC1H1):c.7918G>A (p.Glu2640Lys)
|
rs797045535
|
|
NM_001376.5(DYNC1H1):c.7925G>A (p.Arg2642Lys)
|
rs1336516693
|
|
NM_001376.5(DYNC1H1):c.7937A>T (p.Asn2646Ile)
|
rs2048333160
|
|
NM_001376.5(DYNC1H1):c.7945G>A (p.Val2649Ile)
|
|
|
NM_001376.5(DYNC1H1):c.7951G>A (p.Ala2651Thr)
|
rs1240479409
|
|
NM_001376.5(DYNC1H1):c.7957G>C (p.Val2653Leu)
|
rs1208612980
|
|
NM_001376.5(DYNC1H1):c.7966G>A (p.Gly2656Arg)
|
|
|
NM_001376.5(DYNC1H1):c.797C>T (p.Pro266Leu)
|
rs2047849651
|
|
NM_001376.5(DYNC1H1):c.7981T>G (p.Leu2661Val)
|
rs367991209
|
|
NM_001376.5(DYNC1H1):c.799G>A (p.Ala267Thr)
|
rs2141270143
|
|
NM_001376.5(DYNC1H1):c.8012T>C (p.Met2671Thr)
|
|
|
NM_001376.5(DYNC1H1):c.8013G>A (p.Met2671Ile)
|
|
|
NM_001376.5(DYNC1H1):c.802T>C (p.Ser268Pro)
|
|
|
NM_001376.5(DYNC1H1):c.8052A>G (p.Arg2684=)
|
|
|
NM_001376.5(DYNC1H1):c.8055+6T>A
|
rs766505305
|
|
NM_001376.5(DYNC1H1):c.8056A>T (p.Met2686Leu)
|
|
|
NM_001376.5(DYNC1H1):c.805G>C (p.Gly269Arg)
|
|
|
NM_001376.5(DYNC1H1):c.8068G>A (p.Gly2690Arg)
|
rs1555410313
|
|
NM_001376.5(DYNC1H1):c.8078A>G (p.Tyr2693Cys)
|
|
|
NM_001376.5(DYNC1H1):c.8110G>A (p.Glu2704Lys)
|
|
|
NM_001376.5(DYNC1H1):c.8165C>A (p.Pro2722His)
|
|
|
NM_001376.5(DYNC1H1):c.8176A>C (p.Arg2726=)
|
rs1285457241
|
|
NM_001376.5(DYNC1H1):c.8178-3C>T
|
|
|
NM_001376.5(DYNC1H1):c.8194C>T (p.Pro2732Ser)
|
|
|
NM_001376.5(DYNC1H1):c.8230C>G (p.Leu2744Val)
|
|
|
NM_001376.5(DYNC1H1):c.8233A>C (p.Thr2745Pro)
|
|
|
NM_001376.5(DYNC1H1):c.8257C>T (p.Arg2753Cys)
|
rs2048350905
|
|
NM_001376.5(DYNC1H1):c.8283_8284delinsAG (p.Leu2762Val)
|
|
|
NM_001376.5(DYNC1H1):c.8303C>T (p.Pro2768Leu)
|
|
|
NM_001376.5(DYNC1H1):c.8328C>G (p.Phe2776Leu)
|
|
|
NM_001376.5(DYNC1H1):c.8343+3A>G
|
|
|
NM_001376.5(DYNC1H1):c.8343+5G>T
|
|
|
NM_001376.5(DYNC1H1):c.8377A>G (p.Ile2793Val)
|
|
|
NM_001376.5(DYNC1H1):c.8389C>G (p.Arg2797Gly)
|
|
|
NM_001376.5(DYNC1H1):c.8390G>A (p.Arg2797His)
|
rs2152584603
|
|
NM_001376.5(DYNC1H1):c.83C>G (p.Ser28Trp)
|
rs765882472
|
|
NM_001376.5(DYNC1H1):c.8400T>A (p.Thr2800=)
|
|
|
NM_001376.5(DYNC1H1):c.8425G>A (p.Ala2809Thr)
|
|
|
NM_001376.5(DYNC1H1):c.8461C>G (p.Leu2821Val)
|
rs2048366964
|
|
NM_001376.5(DYNC1H1):c.8467C>T (p.Arg2823Trp)
|
rs1248835520
|
|
NM_001376.5(DYNC1H1):c.847C>T (p.Arg283Cys)
|
rs764341361
|
|
NM_001376.5(DYNC1H1):c.8485G>T (p.Ala2829Ser)
|
|
|
NM_001376.5(DYNC1H1):c.8486C>T (p.Ala2829Val)
|
rs2048367270
|
|
NM_001376.5(DYNC1H1):c.848G>A (p.Arg283His)
|
rs1595597922
|
|
NM_001376.5(DYNC1H1):c.8492G>A (p.Arg2831His)
|
rs2152584657
|
|
NM_001376.5(DYNC1H1):c.8507G>A (p.Arg2836Lys)
|
rs2048367430
|
|
NM_001376.5(DYNC1H1):c.8508-3C>T
|
|
|
NM_001376.5(DYNC1H1):c.8517G>C (p.Glu2839Asp)
|
|
|
NM_001376.5(DYNC1H1):c.8523G>C (p.Glu2841Asp)
|
|
|
NM_001376.5(DYNC1H1):c.8528G>A (p.Arg2843Lys)
|
|
|
NM_001376.5(DYNC1H1):c.8535G>T (p.Trp2845Cys)
|
rs2048401118
|
|
NM_001376.5(DYNC1H1):c.8548A>G (p.Ile2850Val)
|
|
|
NM_001376.5(DYNC1H1):c.8548A>T (p.Ile2850Phe)
|
|
|
NM_001376.5(DYNC1H1):c.854T>C (p.Leu285Ser)
|
|
|
NM_001376.5(DYNC1H1):c.8570del (p.His2857fs)
|
|
|
NM_001376.5(DYNC1H1):c.8576C>T (p.Pro2859Leu)
|
|
|
NM_001376.5(DYNC1H1):c.8581A>G (p.Ile2861Val)
|
rs2152586413
|
|
NM_001376.5(DYNC1H1):c.8599A>G (p.Met2867Val)
|
|
|
NM_001376.5(DYNC1H1):c.85G>C (p.Val29Leu)
|
|
|
NM_001376.5(DYNC1H1):c.8606G>C (p.Arg2869Pro)
|
|
|
NM_001376.5(DYNC1H1):c.860G>A (p.Arg287His)
|
|
|
NM_001376.5(DYNC1H1):c.8630T>G (p.Leu2877Arg)
|
|
|
NM_001376.5(DYNC1H1):c.8638-3T>C
|
|
|
NM_001376.5(DYNC1H1):c.8653G>C (p.Asp2885His)
|
rs2048454256
|
|
NM_001376.5(DYNC1H1):c.8694G>C (p.Lys2898Asn)
|
|
|
NM_001376.5(DYNC1H1):c.8702A>G (p.Tyr2901Cys)
|
|
|
NM_001376.5(DYNC1H1):c.8704GAA[2] (p.Glu2904del)
|
|
|
NM_001376.5(DYNC1H1):c.8734T>C (p.Phe2912Leu)
|
|
|
NM_001376.5(DYNC1H1):c.8751C>G (p.Asp2917Glu)
|
rs2152588718
|
|
NM_001376.5(DYNC1H1):c.8755G>A (p.Val2919Met)
|
|
|
NM_001376.5(DYNC1H1):c.8771+5G>C
|
|
|
NM_001376.5(DYNC1H1):c.8771+6C>A
|
rs756924858
|
|
NM_001376.5(DYNC1H1):c.8771G>A (p.Arg2924Lys)
|
rs2152588723
|
|
NM_001376.5(DYNC1H1):c.8779C>T (p.Arg2927Cys)
|
rs2152588919
|
|
NM_001376.5(DYNC1H1):c.8782_8783delinsTT (p.Gln2928Leu)
|
rs2152588934
|
|
NM_001376.5(DYNC1H1):c.8786C>G (p.Pro2929Arg)
|
|
|
NM_001376.5(DYNC1H1):c.8808T>A (p.Ile2936=)
|
rs886050370
|
|
NM_001376.5(DYNC1H1):c.8842C>T (p.Arg2948Cys)
|
|
|
NM_001376.5(DYNC1H1):c.8848G>A (p.Val2950Ile)
|
|
|
NM_001376.5(DYNC1H1):c.8851G>A (p.Ala2951Thr)
|
|
|
NM_001376.5(DYNC1H1):c.8856G>A (p.Trp2952Ter)
|
|
|
NM_001376.5(DYNC1H1):c.8859G>A (p.Met2953Ile)
|
|
|
NM_001376.5(DYNC1H1):c.8864G>A (p.Gly2955Asp)
|
|
|
NM_001376.5(DYNC1H1):c.886G>C (p.Glu296Gln)
|
|
|
NM_001376.5(DYNC1H1):c.8873T>C (p.Val2958Ala)
|
rs1555410902
|
|
NM_001376.5(DYNC1H1):c.8891del (p.His2964fs)
|
|
|
NM_001376.5(DYNC1H1):c.8902A>G (p.Thr2968Ala)
|
rs2152589038
|
|
NM_001376.5(DYNC1H1):c.892C>T (p.Leu298Phe)
|
|
|
NM_001376.5(DYNC1H1):c.8965A>G (p.Lys2989Glu)
|
|
|
NM_001376.5(DYNC1H1):c.8995G>C (p.Val2999Leu)
|
|
|
NM_001376.5(DYNC1H1):c.9048+4dup
|
|
|
NM_001376.5(DYNC1H1):c.9053C>G (p.Pro3018Arg)
|
rs2152589129
|
|
NM_001376.5(DYNC1H1):c.9073G>A (p.Glu3025Lys)
|
|
|
NM_001376.5(DYNC1H1):c.9087_9088delinsTT (p.Leu3029_Met3030delinsPheLeu)
|
|
|
NM_001376.5(DYNC1H1):c.9109G>A (p.Ala3037Thr)
|
|
|
NM_001376.5(DYNC1H1):c.9113_9116del (p.Gln3038fs)
|
rs2152589159
|
|
NM_001376.5(DYNC1H1):c.9139C>T (p.His3047Tyr)
|
rs1555410940
|
|
NM_001376.5(DYNC1H1):c.91C>T (p.Gln31Ter)
|
|
|
NM_001376.5(DYNC1H1):c.9215C>T (p.Ser3072Leu)
|
|
|
NM_001376.5(DYNC1H1):c.9219G>A (p.Glu3073=)
|
rs2048466890
|
|
NM_001376.5(DYNC1H1):c.9232C>T (p.Arg3078Trp)
|
|
|
NM_001376.5(DYNC1H1):c.9242C>T (p.Thr3081Ile)
|
rs1555410958
|
|
NM_001376.5(DYNC1H1):c.9263+5G>T
|
|
|
NM_001376.5(DYNC1H1):c.9264G>A (p.Arg3088=)
|
rs2048468944
|
|
NM_001376.5(DYNC1H1):c.9295A>G (p.Thr3099Ala)
|
rs2152589296
|
|
NM_001376.5(DYNC1H1):c.932A>T (p.His311Leu)
|
|
|
NM_001376.5(DYNC1H1):c.9331A>G (p.Ser3111Gly)
|
rs1595623556
|
|
NM_001376.5(DYNC1H1):c.9335A>G (p.Lys3112Arg)
|
rs374952401
|
|
NM_001376.5(DYNC1H1):c.9337A>G (p.Met3113Val)
|
rs1046324894
|
|
NM_001376.5(DYNC1H1):c.9342T>A (p.Asp3114Glu)
|
rs2152589319
|
|
NM_001376.5(DYNC1H1):c.9367C>T (p.Pro3123Ser)
|
rs2048469916
|
|
NM_001376.5(DYNC1H1):c.9374A>G (p.Tyr3125Cys)
|
rs2152589339
|
|
NM_001376.5(DYNC1H1):c.9376A>G (p.Met3126Val)
|
rs2152589343
|
|
NM_001376.5(DYNC1H1):c.9401C>T (p.Pro3134Leu)
|
rs905098104
|
|
NM_001376.5(DYNC1H1):c.9424G>A (p.Ala3142Thr)
|
|
|
NM_001376.5(DYNC1H1):c.9424G>T (p.Ala3142Ser)
|
|
|
NM_001376.5(DYNC1H1):c.9434A>G (p.Asn3145Ser)
|
rs2048470595
|
|
NM_001376.5(DYNC1H1):c.9455A>G (p.Gln3152Arg)
|
rs1053560376
|
|
NM_001376.5(DYNC1H1):c.9456G>C (p.Gln3152His)
|
rs2048470929
|
|
NM_001376.5(DYNC1H1):c.9463C>T (p.His3155Tyr)
|
|
|
NM_001376.5(DYNC1H1):c.9466C>T (p.Gln3156Ter)
|
|
|
NM_001376.5(DYNC1H1):c.9482T>C (p.Leu3161Pro)
|
|
|
NM_001376.5(DYNC1H1):c.9503C>T (p.Thr3168Met)
|
rs2048487270
|
|
NM_001376.5(DYNC1H1):c.9554A>C (p.Asn3185Thr)
|
rs1311056505
|
|
NM_001376.5(DYNC1H1):c.9554A>G (p.Asn3185Ser)
|
|
|
NM_001376.5(DYNC1H1):c.9554A>T (p.Asn3185Ile)
|
|
|
NM_001376.5(DYNC1H1):c.9561C>G (p.Phe3187Leu)
|
|
|
NM_001376.5(DYNC1H1):c.9571C>T (p.Arg3191Trp)
|
|
|
NM_001376.5(DYNC1H1):c.9577G>A (p.Glu3193Lys)
|
rs1567017804
|
|
NM_001376.5(DYNC1H1):c.9584A>T (p.Glu3195Val)
|
rs2152590164
|
|
NM_001376.5(DYNC1H1):c.9589C>G (p.Gln3197Glu)
|
|
|
NM_001376.5(DYNC1H1):c.9592C>G (p.Gln3198Glu)
|
|
|
NM_001376.5(DYNC1H1):c.959C>G (p.Thr320Arg)
|
|
|
NM_001376.5(DYNC1H1):c.9607G>A (p.Val3203Met)
|
rs1567017825
|
|
NM_001376.5(DYNC1H1):c.9608T>A (p.Val3203Glu)
|
rs2152590172
|
|
NM_001376.5(DYNC1H1):c.961+10A>G
|
|
|
NM_001376.5(DYNC1H1):c.961+5C>G
|
|
|
NM_001376.5(DYNC1H1):c.9642+4C>T
|
rs773101138
|
|
NM_001376.5(DYNC1H1):c.9642+5G>T
|
|
|
NM_001376.5(DYNC1H1):c.9655C>T (p.Arg3219Cys)
|
rs1555411141
|
|
NM_001376.5(DYNC1H1):c.9656G>A (p.Arg3219His)
|
rs1460582982
|
|
NM_001376.5(DYNC1H1):c.9659G>A (p.Arg3220His)
|
rs868813394
|
|
NM_001376.5(DYNC1H1):c.9691G>T (p.Val3231Leu)
|
rs1567017900
|
|
NM_001376.5(DYNC1H1):c.9703G>A (p.Ala3235Thr)
|
|
|
NM_001376.5(DYNC1H1):c.9745G>A (p.Glu3249Lys)
|
|
|
NM_001376.5(DYNC1H1):c.9762+3A>G
|
|
|
NM_001376.5(DYNC1H1):c.9762+4T>C
|
|
|
NM_001376.5(DYNC1H1):c.9762+6del
|
rs1341822110
|
|
NM_001376.5(DYNC1H1):c.9784G>C (p.Glu3262Gln)
|
rs1567018077
|
|
NM_001376.5(DYNC1H1):c.9827T>A (p.Met3276Lys)
|
rs1199619119
|
|
NM_001376.5(DYNC1H1):c.9827T>G (p.Met3276Arg)
|
|
|
NM_001376.5(DYNC1H1):c.9850A>C (p.Lys3284Gln)
|
|
|
NM_001376.5(DYNC1H1):c.9851A>G (p.Lys3284Arg)
|
|
|
NM_001376.5(DYNC1H1):c.9853G>A (p.Val3285Met)
|
rs2048495282
|
|
NM_001376.5(DYNC1H1):c.9865G>A (p.Val3289Ile)
|
|
|
NM_001376.5(DYNC1H1):c.9865G>C (p.Val3289Leu)
|
|
|
NM_001376.5(DYNC1H1):c.9869T>C (p.Ile3290Thr)
|
rs750222078
|
|
NM_001376.5(DYNC1H1):c.9874G>T (p.Ala3292Ser)
|
rs2048495474
|
|
NM_001376.5(DYNC1H1):c.9883+3A>G
|
rs2048495549
|
|
NM_001376.5(DYNC1H1):c.9893C>T (p.Ser3298Leu)
|
|
|
NM_001376.5(DYNC1H1):c.9896T>C (p.Ile3299Thr)
|
|
|
NM_001376.5(DYNC1H1):c.9919G>T (p.Val3307Leu)
|
rs2048518278
|
|
NM_001376.5(DYNC1H1):c.999T>A (p.Asn333Lys)
|
|
|
NM_001376.5(DYNC1H1):c.99C>A (p.His33Gln)
|
|
|
NM_001376.5(DYNC1H1):c.99C>G (p.His33Gln)
|
|
|
NM_001540.5(HSPB1):c.109C>T (p.Arg37Trp)
|
|
|
NM_001540.5(HSPB1):c.112C>A (p.Leu38Met)
|
|
|
NM_001540.5(HSPB1):c.118G>T (p.Glu40Ter)
|
|
|
NM_001540.5(HSPB1):c.119A>T (p.Glu40Val)
|
|
|
NM_001540.5(HSPB1):c.11G>A (p.Arg4His)
|
|
|
NM_001540.5(HSPB1):c.128C>G (p.Ser43Trp)
|
rs950234286
|
|
NM_001540.5(HSPB1):c.134G>A (p.Trp45Ter)
|
rs753747742
|
|
NM_001540.5(HSPB1):c.136T>G (p.Leu46Val)
|
|
|
NM_001540.5(HSPB1):c.139G>A (p.Gly47Ser)
|
rs778311776
|
|
NM_001540.5(HSPB1):c.149G>T (p.Ser50Ile)
|
rs1404212306
|
|
NM_001540.5(HSPB1):c.152G>A (p.Trp51Ter)
|
|
|
NM_001540.5(HSPB1):c.153G>A (p.Trp51Ter)
|
rs769118115
|
|
NM_001540.5(HSPB1):c.155C>G (p.Pro52Arg)
|
|
|
NM_001540.5(HSPB1):c.169C>T (p.Pro57Ser)
|
rs1803021885
|
|
NM_001540.5(HSPB1):c.16G>T (p.Val6Phe)
|
|
|
NM_001540.5(HSPB1):c.172del (p.Leu58fs)
|
rs768456339
|
|
NM_001540.5(HSPB1):c.175C>T (p.Pro59Ser)
|
rs763084460
|
|
NM_001540.5(HSPB1):c.179C>G (p.Pro60Arg)
|
rs112075084
|
|
NM_001540.5(HSPB1):c.180del (p.Ala61fs)
|
rs1064796370
|
|
NM_001540.5(HSPB1):c.181GCC[3] (p.Ala62dup)
|
rs748560388
|
|
NM_001540.5(HSPB1):c.184G>C (p.Ala62Pro)
|
rs1064796602
|
|
NM_001540.5(HSPB1):c.190G>A (p.Glu64Lys)
|
rs1803023708
|
|
NM_001540.5(HSPB1):c.192G>C (p.Glu64Asp)
|
rs1803023868
|
|
NM_001540.5(HSPB1):c.196C>T (p.Pro66Ser)
|
|
|
NM_001540.5(HSPB1):c.199G>A (p.Ala67Thr)
|
|
|
NM_001540.5(HSPB1):c.19C>T (p.Pro7Ser)
|
rs1563651698
|
|
NM_001540.5(HSPB1):c.1A>C (p.Met1Leu)
|
rs200190722
|
|
NM_001540.5(HSPB1):c.202G>C (p.Val68Leu)
|
rs757158514
|
|
NM_001540.5(HSPB1):c.208G>A (p.Ala70Thr)
|
|
|
NM_001540.5(HSPB1):c.223C>T (p.Arg75Cys)
|
|
|
NM_001540.5(HSPB1):c.233_234delinsTT (p.Ser78Ile)
|
rs1803026258
|
|
NM_001540.5(HSPB1):c.247A>T (p.Ser83Cys)
|
rs1178583914
|
|
NM_001540.5(HSPB1):c.248_249delinsAT (p.Ser83Asn)
|
rs1563651975
|
|
NM_001540.5(HSPB1):c.251G>A (p.Gly84Glu)
|
rs1803027735
|
|
NM_001540.5(HSPB1):c.253G>A (p.Val85Ile)
|
rs773758650
|
|
NM_001540.5(HSPB1):c.264C>G (p.Ile88Met)
|
rs1803028479
|
|
NM_001540.5(HSPB1):c.275C>T (p.Ala92Val)
|
rs771014888
|
|
NM_001540.5(HSPB1):c.281G>A (p.Arg94His)
|
rs776411885
|
|
NM_001540.5(HSPB1):c.305A>G (p.Asn102Ser)
|
rs765142574
|
|
NM_001540.5(HSPB1):c.305A>T (p.Asn102Ile)
|
rs765142574
|
|
NM_001540.5(HSPB1):c.314C>A (p.Ala105Asp)
|
rs2117158764
|
|
NM_001540.5(HSPB1):c.329C>T (p.Thr110Met)
|
|
|
NM_001540.5(HSPB1):c.331G>A (p.Val111Ile)
|
rs1803031093
|
|
NM_001540.5(HSPB1):c.340A>C (p.Lys114Gln)
|
rs1803031436
|
|
NM_001540.5(HSPB1):c.347G>A (p.Gly116Asp)
|
|
|
NM_001540.5(HSPB1):c.355_357del (p.Glu119del)
|
rs1484884861
|
|
NM_001540.5(HSPB1):c.362C>G (p.Thr121Ser)
|
|
|
NM_001540.5(HSPB1):c.364+6C>G
|
rs753061670
|
|
NM_001540.5(HSPB1):c.364+9_364+26del
|
|
|
NM_001540.5(HSPB1):c.365-11_365-9delinsATA
|
rs2117160979
|
|
NM_001540.5(HSPB1):c.365-3A>G
|
rs2117161041
|
|
NM_001540.5(HSPB1):c.365G>A (p.Gly122Asp)
|
|
|
NM_001540.5(HSPB1):c.373GAG[1] (p.Glu126del)
|
rs1554614633
|
|
NM_001540.5(HSPB1):c.37G>A (p.Gly13Ser)
|
rs1475184454
|
|
NM_001540.5(HSPB1):c.380G>A (p.Arg127Gln)
|
rs587781250
|
|
NM_001540.5(HSPB1):c.385G>A (p.Asp129Asn)
|
rs2117161160
|
|
NM_001540.5(HSPB1):c.398A>G (p.Tyr133Cys)
|
rs1583966042
|
|
NM_001540.5(HSPB1):c.40C>T (p.Pro14Ser)
|
|
|
NM_001540.5(HSPB1):c.421A>C (p.Lys141Gln)
|
rs1554614650
|
|
NM_001540.5(HSPB1):c.428+5G>C
|
rs1169656002
|
|
NM_001540.5(HSPB1):c.429-7C>G
|
|
|
NM_001540.5(HSPB1):c.437C>G (p.Pro146Arg)
|
rs780691682
|
|
NM_001540.5(HSPB1):c.457G>A (p.Val153Ile)
|
|
|
NM_001540.5(HSPB1):c.460T>G (p.Ser154Ala)
|
rs1158758405
|
|
NM_001540.5(HSPB1):c.460TCC[2] (p.Ser156del)
|
rs2117161860
|
|
NM_001540.5(HSPB1):c.473C>G (p.Ser158Cys)
|
rs1327017762
|
|
NM_001540.5(HSPB1):c.478G>C (p.Glu160Gln)
|
|
|
NM_001540.5(HSPB1):c.498G>C (p.Glu166Asp)
|
rs148357753
|
|
NM_001540.5(HSPB1):c.502C>T (p.Pro168Ser)
|
|
|
NM_001540.5(HSPB1):c.503C>T (p.Pro168Leu)
|
|
|
NM_001540.5(HSPB1):c.507G>A (p.Met169Ile)
|
|
|
NM_001540.5(HSPB1):c.518C>T (p.Ala173Val)
|
|
|
NM_001540.5(HSPB1):c.52C>A (p.Pro18Thr)
|
rs1803014417
|
|
NM_001540.5(HSPB1):c.52C>T (p.Pro18Ser)
|
rs1803014417
|
|
NM_001540.5(HSPB1):c.530A>T (p.Asn177Ile)
|
rs931154885
|
|
NM_001540.5(HSPB1):c.536T>C (p.Ile179Thr)
|
|
|
NM_001540.5(HSPB1):c.538A>C (p.Thr180Pro)
|
rs1803071312
|
|
NM_001540.5(HSPB1):c.544C>A (p.Pro182Thr)
|
rs104894020
|
|
NM_001540.5(HSPB1):c.551C>T (p.Thr184Ile)
|
rs1803072212
|
|
NM_001540.5(HSPB1):c.554T>C (p.Phe185Ser)
|
rs777225392
|
|
NM_001540.5(HSPB1):c.560C>T (p.Ser187Leu)
|
rs774585320
|
|
NM_001540.5(HSPB1):c.565G>A (p.Ala189Thr)
|
rs1803072933
|
|
NM_001540.5(HSPB1):c.571_583del (p.Leu191fs)
|
|
|
NM_001540.5(HSPB1):c.576_578del (p.Gly193del)
|
rs777055559
|
|
NM_001540.5(HSPB1):c.58C>A (p.Arg20Ser)
|
|
|
NM_001540.5(HSPB1):c.599A>T (p.Asp200Val)
|
|
|
NM_001540.5(HSPB1):c.600T>G (p.Asp200Glu)
|
|
|
NM_001540.5(HSPB1):c.602A>G (p.Glu201Gly)
|
|
|
NM_001540.5(HSPB1):c.607GCC[1] (p.Ala204del)
|
rs1276065076
|
|
NM_001540.5(HSPB1):c.609dup (p.Ala204fs)
|
rs1563653037
|
|
NM_001540.5(HSPB1):c.610G>A (p.Ala204Thr)
|
rs367857772
|
|
NM_001540.5(HSPB1):c.610G>T (p.Ala204Ser)
|
rs367857772
|
|
NM_001540.5(HSPB1):c.615G>T (p.Lys205Asn)
|
rs1310856057
|
|
NM_001540.5(HSPB1):c.66G>C (p.Trp22Cys)
|
rs2117157792
|
|
NM_001540.5(HSPB1):c.74_95dup (p.Ala32_Phe33insTer)
|
rs2117157815
|
|
NM_001540.5(HSPB1):c.75T>G (p.His25Gln)
|
|
|
NM_001540.5(HSPB1):c.7G>A (p.Glu3Lys)
|
rs748003351
|
|
NM_001540.5(HSPB1):c.80G>A (p.Arg27His)
|
|
|
NM_001540.5(HSPB1):c.80G>T (p.Arg27Leu)
|
rs367662394
|
|
NM_001540.5(HSPB1):c.89A>C (p.Asp30Ala)
|
rs771709777
|
|
NM_001540.5(HSPB1):c.94G>T (p.Ala32Ser)
|
|
|
NM_001540.5(HSPB1):c.95C>A (p.Ala32Asp)
|
|
|
NM_001605.3(AARS1):c.1006C>T (p.His336Tyr)
|
rs756594937
|
|
NM_001605.3(AARS1):c.1012A>G (p.Lys338Glu)
|
rs1960315664
|
|
NM_001605.3(AARS1):c.1026C>G (p.Ser342Arg)
|
|
|
NM_001605.3(AARS1):c.1027A>G (p.Arg343Gly)
|
rs1960315228
|
|
NM_001605.3(AARS1):c.1029G>T (p.Arg343Ser)
|
|
|
NM_001605.3(AARS1):c.1033T>A (p.Phe345Ile)
|
|
|
NM_001605.3(AARS1):c.1036T>C (p.Phe346Leu)
|
rs765790521
|
|
NM_001605.3(AARS1):c.1042A>G (p.Thr348Ala)
|
rs1483525127
|
|
NM_001605.3(AARS1):c.1049T>C (p.Val350Ala)
|
|
|
NM_001605.3(AARS1):c.104A>T (p.Asp35Val)
|
|
|
NM_001605.3(AARS1):c.1050G>A (p.Val350=)
|
|
|
NM_001605.3(AARS1):c.1055T>G (p.Val352Gly)
|
rs1597441040
|
|
NM_001605.3(AARS1):c.1060G>T (p.Val354Phe)
|
rs762395098
|
|
NM_001605.3(AARS1):c.1065G>T (p.Gln355His)
|
rs1960314004
|
|
NM_001605.3(AARS1):c.1071+5G>T
|
|
|
NM_001605.3(AARS1):c.1072-3C>G
|
|
|
NM_001605.3(AARS1):c.1076A>G (p.Asp359Gly)
|
rs1960298879
|
|
NM_001605.3(AARS1):c.1078G>C (p.Ala360Pro)
|
rs761669458
|
|
NM_001605.3(AARS1):c.1082T>G (p.Phe361Cys)
|
rs2152160274
|
|
NM_001605.3(AARS1):c.109C>T (p.Pro37Ser)
|
rs1005079274
|
|
NM_001605.3(AARS1):c.10A>G (p.Thr4Ala)
|
|
|
NM_001605.3(AARS1):c.1106A>T (p.Asp369Val)
|
rs2152160238
|
|
NM_001605.3(AARS1):c.110C>T (p.Pro37Leu)
|
|
|
NM_001605.3(AARS1):c.1114A>G (p.Lys372Glu)
|
|
|
NM_001605.3(AARS1):c.1123A>G (p.Ile375Val)
|
|
|
NM_001605.3(AARS1):c.1129G>A (p.Glu377Lys)
|
rs2152160216
|
|
NM_001605.3(AARS1):c.113C>T (p.Thr38Ile)
|
rs761574997
|
|
NM_001605.3(AARS1):c.1150A>C (p.Lys384Gln)
|
rs1597440683
|
|
NM_001605.3(AARS1):c.1169G>A (p.Arg390His)
|
rs1465496890
|
|
NM_001605.3(AARS1):c.1171C>T (p.Arg391Cys)
|
rs147580372
|
|
NM_001605.3(AARS1):c.1172G>A (p.Arg391His)
|
|
|
NM_001605.3(AARS1):c.1174A>G (p.Ile392Val)
|
|
|
NM_001605.3(AARS1):c.1178T>A (p.Leu393Gln)
|
|
|
NM_001605.3(AARS1):c.1180G>T (p.Asp394Tyr)
|
rs2152160177
|
|
NM_001605.3(AARS1):c.118C>T (p.Leu40Phe)
|
rs1350361999
|
|
NM_001605.3(AARS1):c.1191T>G (p.Ile397Met)
|
rs2152160165
|
|
NM_001605.3(AARS1):c.1196G>A (p.Ser399Asn)
|
|
|
NM_001605.3(AARS1):c.11C>A (p.Thr4Asn)
|
|
|
NM_001605.3(AARS1):c.11C>T (p.Thr4Ile)
|
rs1335517508
|
|
NM_001605.3(AARS1):c.1209C>G (p.Ser403Arg)
|
|
|
NM_001605.3(AARS1):c.1209C>T (p.Ser403=)
|
rs769521539
|
|
NM_001605.3(AARS1):c.1216A>T (p.Ile406Phe)
|
|
|
NM_001605.3(AARS1):c.1222+5_1222+7delinsTTTTTGC
|
rs1960294143
|
|
NM_001605.3(AARS1):c.1222G>A (p.Gly408Arg)
|
rs369135192
|
|
NM_001605.3(AARS1):c.1222G>C (p.Gly408Arg)
|
rs369135192
|
|
NM_001605.3(AARS1):c.1243T>A (p.Tyr415Asn)
|
|
|
NM_001605.3(AARS1):c.1244A>C (p.Tyr415Ser)
|
|
|
NM_001605.3(AARS1):c.1283T>G (p.Ile428Ser)
|
|
|
NM_001605.3(AARS1):c.1294A>C (p.Lys432Gln)
|
|
|
NM_001605.3(AARS1):c.1295A>G (p.Lys432Arg)
|
|
|
NM_001605.3(AARS1):c.1297G>A (p.Gly433Ser)
|
|
|
NM_001605.3(AARS1):c.1298G>C (p.Gly433Ala)
|
|
|
NM_001605.3(AARS1):c.1298G>T (p.Gly433Val)
|
|
|
NM_001605.3(AARS1):c.1301T>A (p.Leu434Gln)
|
rs1960243047
|
|
NM_001605.3(AARS1):c.1310A>G (p.Asp437Gly)
|
|
|
NM_001605.3(AARS1):c.1321T>C (p.Phe441Leu)
|
|
|
NM_001605.3(AARS1):c.1334G>C (p.Arg445Thr)
|
|
|
NM_001605.3(AARS1):c.133G>A (p.Gly45Ser)
|
rs1960729134
|
|
NM_001605.3(AARS1):c.133G>C (p.Gly45Arg)
|
|
|
NM_001605.3(AARS1):c.1348C>G (p.Leu450Val)
|
rs767096851
|
|
NM_001605.3(AARS1):c.1349T>A (p.Leu450Gln)
|
|
|
NM_001605.3(AARS1):c.1360G>A (p.Gly454Ser)
|
|
|
NM_001605.3(AARS1):c.1382A>G (p.Asp461Gly)
|
|
|
NM_001605.3(AARS1):c.1382A>T (p.Asp461Val)
|
rs1195150104
|
|
NM_001605.3(AARS1):c.1393C>G (p.Leu465Val)
|
rs1555540828
|
|
NM_001605.3(AARS1):c.13C>G (p.Leu5Val)
|
|
|
NM_001605.3(AARS1):c.1406C>T (p.Ala469Val)
|
rs1482868893
|
|
NM_001605.3(AARS1):c.1408A>T (p.Ile470Phe)
|
rs879254145
|
|
NM_001605.3(AARS1):c.1409T>A (p.Ile470Asn)
|
rs1567605658
|
|
NM_001605.3(AARS1):c.1410C>G (p.Ile470Met)
|
rs79785372
|
|
NM_001605.3(AARS1):c.1417C>T (p.Leu473Phe)
|
|
|
NM_001605.3(AARS1):c.1427G>A (p.Arg476Gln)
|
rs755833227
|
|
NM_001605.3(AARS1):c.1429G>A (p.Gly477Ser)
|
rs1228135551
|
|
NM_001605.3(AARS1):c.1439T>C (p.Val480Ala)
|
|
|
NM_001605.3(AARS1):c.144+4A>G
|
|
|
NM_001605.3(AARS1):c.144+6G>T
|
|
|
NM_001605.3(AARS1):c.1441A>C (p.Thr481Pro)
|
|
|
NM_001605.3(AARS1):c.1444G>C (p.Asp482His)
|
rs763513667
|
|
NM_001605.3(AARS1):c.145-3T>C
|
rs1006628756
|
|
NM_001605.3(AARS1):c.1458G>C (p.Lys486Asn)
|
|
|
NM_001605.3(AARS1):c.1463A>G (p.Asn488Ser)
|
|
|
NM_001605.3(AARS1):c.1463A>T (p.Asn488Ile)
|
|
|
NM_001605.3(AARS1):c.1466A>G (p.Tyr489Cys)
|
|
|
NM_001605.3(AARS1):c.1468C>T (p.His490Tyr)
|
|
|
NM_001605.3(AARS1):c.1469A>G (p.His490Arg)
|
|
|
NM_001605.3(AARS1):c.147T>G (p.Phe49Leu)
|
|
|
NM_001605.3(AARS1):c.148A>G (p.Lys50Glu)
|
|
|
NM_001605.3(AARS1):c.1492+3A>T
|
|
|
NM_001605.3(AARS1):c.1492+5G>A
|
rs2152158281
|
|
NM_001605.3(AARS1):c.1492G>T (p.Val498Leu)
|
rs1960227997
|
|
NM_001605.3(AARS1):c.1496T>G (p.Phe499Cys)
|
|
|
NM_001605.3(AARS1):c.1517T>A (p.Val506Glu)
|
|
|
NM_001605.3(AARS1):c.1519A>G (p.Met507Val)
|
rs1064797212
|
|
NM_001605.3(AARS1):c.1523C>G (p.Ala508Gly)
|
|
|
NM_001605.3(AARS1):c.1525C>G (p.Leu509Val)
|
rs761096936
|
|
NM_001605.3(AARS1):c.1529G>T (p.Arg510Leu)
|
|
|
NM_001605.3(AARS1):c.1534G>A (p.Glu512Lys)
|
|
|
NM_001605.3(AARS1):c.1534G>C (p.Glu512Gln)
|
|
|
NM_001605.3(AARS1):c.1535AGA[1] (p.Lys513del)
|
rs762162379
|
|
NM_001605.3(AARS1):c.1537A>G (p.Lys513Glu)
|
|
|
NM_001605.3(AARS1):c.1538A>C (p.Lys513Thr)
|
rs2152156683
|
|
NM_001605.3(AARS1):c.1538A>G (p.Lys513Arg)
|
|
|
NM_001605.3(AARS1):c.1545C>A (p.Phe515Leu)
|
rs200578293
|
|
NM_001605.3(AARS1):c.1546G>A (p.Val516Met)
|
rs143844046
|
|
NM_001605.3(AARS1):c.1579G>A (p.Val527Met)
|
|
|
NM_001605.3(AARS1):c.1586T>C (p.Leu529Pro)
|
|
|
NM_001605.3(AARS1):c.1591A>G (p.Lys531Glu)
|
|
|
NM_001605.3(AARS1):c.1606G>T (p.Ala536Ser)
|
rs1179099210
|
|
NM_001605.3(AARS1):c.1613A>G (p.Gln538Arg)
|
|
|
NM_001605.3(AARS1):c.1614A>C (p.Gln538His)
|
|
|
NM_001605.3(AARS1):c.1640A>G (p.Tyr547Cys)
|
rs1328218106
|
|
NM_001605.3(AARS1):c.1651G>A (p.Val551Met)
|
rs1060503691
|
|
NM_001605.3(AARS1):c.1654G>T (p.Asp552Tyr)
|
|
|
NM_001605.3(AARS1):c.1657G>A (p.Asp553Asn)
|
|
|
NM_001605.3(AARS1):c.1658A>G (p.Asp553Gly)
|
|
|
NM_001605.3(AARS1):c.1676C>T (p.Thr559Ile)
|
rs1960123149
|
|
NM_001605.3(AARS1):c.1680G>C (p.Glu560Asp)
|
rs863224707
|
|
NM_001605.3(AARS1):c.1687G>A (p.Val563Met)
|
|
|
NM_001605.3(AARS1):c.1699C>G (p.Gln567Glu)
|
|
|
NM_001605.3(AARS1):c.1706G>A (p.Arg569Gln)
|
|
|
NM_001605.3(AARS1):c.1718T>G (p.Val573Gly)
|
rs1167508772
|
|
NM_001605.3(AARS1):c.1725C>A (p.His575Gln)
|
|
|
NM_001605.3(AARS1):c.1728T>G (p.Ile576Met)
|
|
|
NM_001605.3(AARS1):c.1735A>G (p.Ile579Val)
|
rs1960121476
|
|
NM_001605.3(AARS1):c.1735A>T (p.Ile579Phe)
|
rs1960121476
|
|
NM_001605.3(AARS1):c.1736T>C (p.Ile579Thr)
|
|
|
NM_001605.3(AARS1):c.1741G>A (p.Gly581Ser)
|
rs762734676
|
|
NM_001605.3(AARS1):c.176C>A (p.Pro59Gln)
|
rs1337985053
|
|
NM_001605.3(AARS1):c.1776T>G (p.Phe592Leu)
|
|
|
NM_001605.3(AARS1):c.1778T>C (p.Ile593Thr)
|
|
|
NM_001605.3(AARS1):c.1785+4A>G
|
rs2152155700
|
|
NM_001605.3(AARS1):c.1785+5G>T
|
|
|
NM_001605.3(AARS1):c.1785G>A (p.Glu595=)
|
rs1462458743
|
|
NM_001605.3(AARS1):c.1790G>T (p.Arg597Leu)
|
rs777597230
|
|
NM_001605.3(AARS1):c.1793G>A (p.Arg598Gln)
|
|
|
NM_001605.3(AARS1):c.1797A>T (p.Arg599Ser)
|
rs753398944
|
|
NM_001605.3(AARS1):c.1799C>A (p.Pro600His)
|
rs1355373452
|
|
NM_001605.3(AARS1):c.1819G>A (p.Ala607Thr)
|
rs377247120
|
|
NM_001605.3(AARS1):c.1822A>T (p.Thr608Ser)
|
|
|
NM_001605.3(AARS1):c.1828A>G (p.Ile610Val)
|
|
|
NM_001605.3(AARS1):c.182A>G (p.His61Arg)
|
|
|
NM_001605.3(AARS1):c.1837T>C (p.Phe613Leu)
|
|
|
NM_001605.3(AARS1):c.1840G>C (p.Ala614Pro)
|
|
|
NM_001605.3(AARS1):c.1847G>T (p.Arg616Leu)
|
|
|
NM_001605.3(AARS1):c.184C>A (p.Pro62Thr)
|
rs779066703
|
|
NM_001605.3(AARS1):c.1852G>T (p.Val618Leu)
|
|
|
NM_001605.3(AARS1):c.1855C>T (p.Leu619Phe)
|
|
|
NM_001605.3(AARS1):c.1856T>C (p.Leu619Pro)
|
|
|
NM_001605.3(AARS1):c.1861G>A (p.Glu621Lys)
|
|
|
NM_001605.3(AARS1):c.1875A>T (p.Lys625Asn)
|
|
|
NM_001605.3(AARS1):c.1877G>C (p.Gly626Ala)
|
rs2152154443
|
|
NM_001605.3(AARS1):c.188T>A (p.Met63Lys)
|
|
|
NM_001605.3(AARS1):c.188T>C (p.Met63Thr)
|
|
|
NM_001605.3(AARS1):c.1898G>A (p.Arg633His)
|
|
|
NM_001605.3(AARS1):c.1905A>G (p.Arg635=)
|
rs2152154405
|
|
NM_001605.3(AARS1):c.1912T>A (p.Phe638Ile)
|
rs1960068620
|
|
NM_001605.3(AARS1):c.1915A>T (p.Thr639Ser)
|
|
|
NM_001605.3(AARS1):c.1916C>T (p.Thr639Ile)
|
|
|
NM_001605.3(AARS1):c.1921A>G (p.Lys641Glu)
|
rs1960068371
|
|
NM_001605.3(AARS1):c.1922A>G (p.Lys641Arg)
|
|
|
NM_001605.3(AARS1):c.1947C>G (p.Ile649Met)
|
|
|
NM_001605.3(AARS1):c.1948A>C (p.Lys650Gln)
|
rs573789791
|
|
NM_001605.3(AARS1):c.1953G>C (p.Lys651Asn)
|
rs771099188
|
|
NM_001605.3(AARS1):c.1970A>T (p.Asn657Ile)
|
|
|
NM_001605.3(AARS1):c.1971T>A (p.Asn657Lys)
|
|
|
NM_001605.3(AARS1):c.1975A>G (p.Met659Val)
|
rs2152154324
|
|
NM_001605.3(AARS1):c.1981G>A (p.Glu661Lys)
|
|
|
NM_001605.3(AARS1):c.1985C>A (p.Ala662Glu)
|
rs2152154318
|
|
NM_001605.3(AARS1):c.1992+5G>A
|
rs1064796467
|
|
NM_001605.3(AARS1):c.2000A>C (p.Tyr667Ser)
|
|
|
NM_001605.3(AARS1):c.2008G>C (p.Asp670His)
|
|
|
NM_001605.3(AARS1):c.2018T>A (p.Leu673Gln)
|
|
|
NM_001605.3(AARS1):c.2031A>T (p.Lys677Asn)
|
|
|
NM_001605.3(AARS1):c.2045T>A (p.Leu682Gln)
|
|
|
NM_001605.3(AARS1):c.2059G>A (p.Asp687Asn)
|
rs1597435277
|
|
NM_001605.3(AARS1):c.2059G>C (p.Asp687His)
|
|
|
NM_001605.3(AARS1):c.2069A>C (p.Tyr690Ser)
|
rs563959372
|
|
NM_001605.3(AARS1):c.2069A>G (p.Tyr690Cys)
|
|
|
NM_001605.3(AARS1):c.2071C>A (p.Pro691Thr)
|
|
|
NM_001605.3(AARS1):c.2089G>A (p.Val697Ile)
|
rs368191672
|
|
NM_001605.3(AARS1):c.208G>C (p.Ala70Pro)
|
rs1960569577
|
|
NM_001605.3(AARS1):c.2092T>A (p.Ser698Thr)
|
rs374062105
|
|
NM_001605.3(AARS1):c.2092T>G (p.Ser698Ala)
|
|
|
NM_001605.3(AARS1):c.2096T>C (p.Ile699Thr)
|
rs769778018
|
|
NM_001605.3(AARS1):c.2099G>T (p.Gly700Val)
|
|
|
NM_001605.3(AARS1):c.2116T>A (p.Leu706Met)
|
|
|
NM_001605.3(AARS1):c.2118G>T (p.Leu706Phe)
|
|
|
NM_001605.3(AARS1):c.2123A>G (p.Asp708Gly)
|
|
|
NM_001605.3(AARS1):c.2125G>A (p.Asp709Asn)
|
rs367806417
|
|
NM_001605.3(AARS1):c.212A>G (p.Asn71Ser)
|
rs757167895
|
|
NM_001605.3(AARS1):c.2132C>G (p.Ser711Cys)
|
|
|
NM_001605.3(AARS1):c.2138C>T (p.Pro713Leu)
|
|
|
NM_001605.3(AARS1):c.215C>A (p.Thr72Asn)
|
|
|
NM_001605.3(AARS1):c.215C>T (p.Thr72Ile)
|
rs2152167036
|
|
NM_001605.3(AARS1):c.2162A>C (p.Glu721Ala)
|
|
|
NM_001605.3(AARS1):c.2170G>A (p.Gly724Arg)
|
|
|
NM_001605.3(AARS1):c.2176A>C (p.Thr726Pro)
|
rs1312337697
|
|
NM_001605.3(AARS1):c.2176A>G (p.Thr726Ala)
|
rs1312337697
|
|
NM_001605.3(AARS1):c.2177+5G>A
|
rs2152153454
|
|
NM_001605.3(AARS1):c.2177+6T>A
|
|
|
NM_001605.3(AARS1):c.2177C>T (p.Thr726Met)
|
rs1480620711
|
|
NM_001605.3(AARS1):c.2178_2179delinsTT (p.His727Tyr)
|
rs2152151946
|
|
NM_001605.3(AARS1):c.2201C>T (p.Ala734Val)
|
|
|
NM_001605.3(AARS1):c.2216T>C (p.Ile739Thr)
|
rs2152151875
|
|
NM_001605.3(AARS1):c.2217C>G (p.Ile739Met)
|
rs770980206
|
|
NM_001605.3(AARS1):c.2218G>A (p.Val740Met)
|
rs749217453
|
|
NM_001605.3(AARS1):c.2222C>A (p.Thr741Lys)
|
rs148383122
|
|
NM_001605.3(AARS1):c.2227G>A (p.Glu743Lys)
|
rs1358716596
|
|
NM_001605.3(AARS1):c.2233A>C (p.Ile745Leu)
|
|
|
NM_001605.3(AARS1):c.2248C>T (p.Arg750Trp)
|
rs751300562
|
|
NM_001605.3(AARS1):c.2255T>C (p.Ile752Thr)
|
|
|
NM_001605.3(AARS1):c.2257G>A (p.Val753Met)
|
|
|
NM_001605.3(AARS1):c.2260G>A (p.Ala754Thr)
|
rs1959974421
|
|
NM_001605.3(AARS1):c.2270G>A (p.Gly757Asp)
|
rs2152151798
|
|
NM_001605.3(AARS1):c.2274C>G (p.Ala758=)
|
|
|
NM_001605.3(AARS1):c.2279C>G (p.Ala760Gly)
|
|
|
NM_001605.3(AARS1):c.2286+6C>T
|
|
|
NM_001605.3(AARS1):c.2286+9G>A
|
|
|
NM_001605.3(AARS1):c.2287-3C>T
|
|
|
NM_001605.3(AARS1):c.2294G>A (p.Arg765Lys)
|
rs758250941
|
|
NM_001605.3(AARS1):c.229C>T (p.Arg77Trp)
|
rs1597446225
|
|
NM_001605.3(AARS1):c.2330T>C (p.Met777Thr)
|
rs573846062
|
|
NM_001605.3(AARS1):c.2331G>A (p.Met777Ile)
|
rs1335792344
|
|
NM_001605.3(AARS1):c.2339A>C (p.Lys780Thr)
|
|
|
NM_001605.3(AARS1):c.2352G>T (p.Gln784His)
|
|
|
NM_001605.3(AARS1):c.2353A>G (p.Thr785Ala)
|
|
|
NM_001605.3(AARS1):c.2354C>G (p.Thr785Ser)
|
rs774737730
|
|
NM_001605.3(AARS1):c.236G>C (p.Gly79Ala)
|
rs1960569020
|
|
NM_001605.3(AARS1):c.2371G>A (p.Val791Met)
|
|
|
NM_001605.3(AARS1):c.2375A>G (p.Gln792Arg)
|
rs1959932678
|
|
NM_001605.3(AARS1):c.2385C>G (p.Ile795Met)
|
rs1283711323
|
|
NM_001605.3(AARS1):c.23G>A (p.Ser8Asn)
|
|
|
NM_001605.3(AARS1):c.2400+5G>A
|
|
|
NM_001605.3(AARS1):c.2402C>T (p.Ala801Val)
|
|
|
NM_001605.3(AARS1):c.2405T>A (p.Leu802Gln)
|
rs1959916452
|
|
NM_001605.3(AARS1):c.2411C>G (p.Thr804Ser)
|
|
|
NM_001605.3(AARS1):c.2414C>T (p.Ala805Val)
|
rs865779159
|
|
NM_001605.3(AARS1):c.2428T>C (p.Trp810Arg)
|
|
|
NM_001605.3(AARS1):c.2435A>G (p.Lys812Arg)
|
rs1179785822
|
|
NM_001605.3(AARS1):c.2452A>G (p.Thr818Ala)
|
rs1567601050
|
|
NM_001605.3(AARS1):c.2471A>G (p.Lys824Arg)
|
rs2152150233
|
|
NM_001605.3(AARS1):c.2476A>C (p.Met826Leu)
|
|
|
NM_001605.3(AARS1):c.2476A>G (p.Met826Val)
|
|
|
NM_001605.3(AARS1):c.2477T>C (p.Met826Thr)
|
|
|
NM_001605.3(AARS1):c.2481T>A (p.Asp827Glu)
|
rs1959913690
|
|
NM_001605.3(AARS1):c.2494G>T (p.Ala832Ser)
|
|
|
NM_001605.3(AARS1):c.2495C>T (p.Ala832Val)
|
rs2152150203
|
|
NM_001605.3(AARS1):c.2509G>A (p.Val837Ile)
|
|
|
NM_001605.3(AARS1):c.250G>T (p.Asp84Tyr)
|
|
|
NM_001605.3(AARS1):c.2520+12C>T
|
|
|
NM_001605.3(AARS1):c.2521-4_2521-3delinsAA
|
rs1959908890
|
|
NM_001605.3(AARS1):c.2521G>A (p.Val841Met)
|
rs1377534422
|
|
NM_001605.3(AARS1):c.2527G>C (p.Glu843Gln)
|
|
|
NM_001605.3(AARS1):c.2534C>T (p.Thr845Met)
|
rs1959908249
|
|
NM_001605.3(AARS1):c.2545A>G (p.Ile849Val)
|
|
|
NM_001605.3(AARS1):c.2552_2553delinsAA (p.Ser851Lys)
|
|
|
NM_001605.3(AARS1):c.2555A>G (p.Asn852Ser)
|
rs1959907229
|
|
NM_001605.3(AARS1):c.2561A>G (p.Asn854Ser)
|
|
|
NM_001605.3(AARS1):c.2567C>T (p.Pro856Leu)
|
rs1273114725
|
|
NM_001605.3(AARS1):c.2586G>A (p.Met862Ile)
|
|
|
NM_001605.3(AARS1):c.2591G>A (p.Ser864Asn)
|
|
|
NM_001605.3(AARS1):c.2595C>T (p.Gly865=)
|
rs751781504
|
|
NM_001605.3(AARS1):c.2600C>T (p.Ser867Leu)
|
|
|
NM_001605.3(AARS1):c.2607+2C>T
|
|
|
NM_001605.3(AARS1):c.2612T>C (p.Leu871Pro)
|
rs2152149764
|
|
NM_001605.3(AARS1):c.2630T>C (p.Leu877Pro)
|
rs2152149752
|
|
NM_001605.3(AARS1):c.2630T>G (p.Leu877Arg)
|
|
|
NM_001605.3(AARS1):c.2638A>G (p.Met880Val)
|
|
|
NM_001605.3(AARS1):c.2641C>T (p.His881Tyr)
|
|
|
NM_001605.3(AARS1):c.2642A>G (p.His881Arg)
|
|
|
NM_001605.3(AARS1):c.2643C>G (p.His881Gln)
|
|
|
NM_001605.3(AARS1):c.2653A>G (p.Thr885Ala)
|
|
|
NM_001605.3(AARS1):c.2664G>A (p.Met888Ile)
|
|
|
NM_001605.3(AARS1):c.2694G>T (p.Lys898Asn)
|
|
|
NM_001605.3(AARS1):c.2713G>T (p.Val905Phe)
|
|
|
NM_001605.3(AARS1):c.2720A>G (p.Gln907Arg)
|
|
|
NM_001605.3(AARS1):c.2722-28_2740dup
|
rs768242660
|
|
NM_001605.3(AARS1):c.2722-2A>C
|
|
|
NM_001605.3(AARS1):c.2722-2A>T
|
rs1273121575
|
|
NM_001605.3(AARS1):c.2724T>A (p.Asn908Lys)
|
|
|
NM_001605.3(AARS1):c.2728G>A (p.Ala910Thr)
|
|
|
NM_001605.3(AARS1):c.2738G>T (p.Gly913Val)
|
rs369774476
|
|
NM_001605.3(AARS1):c.2741del (p.Gly913_Leu914insTer)
|
rs747345978
|
|
NM_001605.3(AARS1):c.2749A>C (p.Ser917Arg)
|
rs2152149427
|
|
NM_001605.3(AARS1):c.2757G>A (p.Trp919Ter)
|
rs1959876202
|
|
NM_001605.3(AARS1):c.2765A>T (p.Gln922Leu)
|
rs2152149415
|
|
NM_001605.3(AARS1):c.277T>C (p.Tyr93His)
|
|
|
NM_001605.3(AARS1):c.2785G>A (p.Gly929Ser)
|
|
|
NM_001605.3(AARS1):c.2817G>T (p.Gln939His)
|
rs140048586
|
|
NM_001605.3(AARS1):c.2818G>T (p.Ala940Ser)
|
|
|
NM_001605.3(AARS1):c.2819C>T (p.Ala940Val)
|
rs1959874409
|
|
NM_001605.3(AARS1):c.2822C>G (p.Thr941Arg)
|
|
|
NM_001605.3(AARS1):c.2822C>T (p.Thr941Ile)
|
|
|
NM_001605.3(AARS1):c.2837G>T (p.Gly946Val)
|
|
|
NM_001605.3(AARS1):c.2849A>T (p.Glu950Val)
|
rs1205588554
|
|
NM_001605.3(AARS1):c.2859G>C (p.Gln953His)
|
|
|
NM_001605.3(AARS1):c.2863G>C (p.Ala955Pro)
|
|
|
NM_001605.3(AARS1):c.2867C>G (p.Thr956Ser)
|
|
|
NM_001605.3(AARS1):c.2867C>T (p.Thr956Ile)
|
rs747833388
|
|
NM_001605.3(AARS1):c.286A>G (p.Thr96Ala)
|
|
|
NM_001605.3(AARS1):c.2870C>A (p.Ser957Tyr)
|
|
|
NM_001605.3(AARS1):c.2870C>G (p.Ser957Cys)
|
rs146540551
|
|
NM_001605.3(AARS1):c.2879A>C (p.Gln960Pro)
|
rs1959872136
|
|
NM_001605.3(AARS1):c.2880G>C (p.Gln960His)
|
|
|
NM_001605.3(AARS1):c.2882T>C (p.Leu961Pro)
|
|
|
NM_001605.3(AARS1):c.2890G>A (p.Gly964Arg)
|
|
|
NM_001605.3(AARS1):c.289TTC[1] (p.Phe98del)
|
rs773602581
|
|
NM_001605.3(AARS1):c.2901G>C (p.Lys967Asn)
|
rs762241810
|
|
NM_001605.3(AARS1):c.2906G>C (p.Ter969Ser)
|
|
|
NM_001605.3(AARS1):c.299T>C (p.Met100Thr)
|
|
|
NM_001605.3(AARS1):c.29T>C (p.Ile10Thr)
|
|
|
NM_001605.3(AARS1):c.333+3A>G
|
rs747431164
|
|
NM_001605.3(AARS1):c.333+4A>C
|
rs2152166953
|
|
NM_001605.3(AARS1):c.333G>A (p.Lys111=)
|
rs1597446167
|
|
NM_001605.3(AARS1):c.334G>A (p.Glu112Lys)
|
|
|
NM_001605.3(AARS1):c.339G>C (p.Leu113Phe)
|
rs1960558852
|
|
NM_001605.3(AARS1):c.352G>C (p.Ala118Pro)
|
|
|
NM_001605.3(AARS1):c.35A>G (p.Gln12Arg)
|
rs1960733766
|
|
NM_001605.3(AARS1):c.377T>A (p.Phe126Tyr)
|
|
|
NM_001605.3(AARS1):c.377T>C (p.Phe126Ser)
|
|
|
NM_001605.3(AARS1):c.380G>T (p.Gly127Val)
|
|
|
NM_001605.3(AARS1):c.386C>T (p.Pro129Leu)
|
|
|
NM_001605.3(AARS1):c.388A>G (p.Ile130Val)
|
|
|
NM_001605.3(AARS1):c.390T>G (p.Ile130Met)
|
|
|
NM_001605.3(AARS1):c.397C>G (p.Leu133Val)
|
|
|
NM_001605.3(AARS1):c.400T>C (p.Tyr134His)
|
rs1960556610
|
|
NM_001605.3(AARS1):c.406A>G (p.Thr136Ala)
|
|
|
NM_001605.3(AARS1):c.427G>A (p.Ala143Thr)
|
rs2152166712
|
|
NM_001605.3(AARS1):c.428C>T (p.Ala143Val)
|
|
|
NM_001605.3(AARS1):c.431_445del (p.Ala144_Ala148del)
|
|
|
NM_001605.3(AARS1):c.43A>C (p.Ile15Leu)
|
|
|
NM_001605.3(AARS1):c.443C>T (p.Ala148Val)
|
rs1960555053
|
|
NM_001605.3(AARS1):c.445G>C (p.Asp149His)
|
|
|
NM_001605.3(AARS1):c.461A>C (p.Gln154Pro)
|
|
|
NM_001605.3(AARS1):c.461A>G (p.Gln154Arg)
|
|
|
NM_001605.3(AARS1):c.462G>C (p.Gln154His)
|
rs1164802341
|
|
NM_001605.3(AARS1):c.465C>G (p.Ile155Met)
|
|
|
NM_001605.3(AARS1):c.46G>A (p.Asp16Asn)
|
|
|
NM_001605.3(AARS1):c.479+5G>A
|
rs1487772006
|
|
NM_001605.3(AARS1):c.480G>C (p.Gly160=)
|
rs2152163363
|
|
NM_001605.3(AARS1):c.488A>G (p.Asp163Gly)
|
rs1597443484
|
|
NM_001605.3(AARS1):c.493A>G (p.Lys165Glu)
|
rs2152163346
|
|
NM_001605.3(AARS1):c.499C>T (p.Leu167Phe)
|
|
|
NM_001605.3(AARS1):c.502C>T (p.Pro168Ser)
|
|
|
NM_001605.3(AARS1):c.50T>C (p.Phe17Ser)
|
|
|
NM_001605.3(AARS1):c.535G>A (p.Gly179Ser)
|
|
|
NM_001605.3(AARS1):c.542C>T (p.Thr181Met)
|
|
|
NM_001605.3(AARS1):c.556C>T (p.Pro186Ser)
|
|
|
NM_001605.3(AARS1):c.571C>T (p.His191Tyr)
|
|
|
NM_001605.3(AARS1):c.583A>G (p.Ile195Val)
|
|
|
NM_001605.3(AARS1):c.58A>T (p.Arg20Trp)
|
rs770697148
|
|
NM_001605.3(AARS1):c.593G>A (p.Arg198Gln)
|
|
|
NM_001605.3(AARS1):c.598G>A (p.Ala200Thr)
|
|
|
NM_001605.3(AARS1):c.601G>C (p.Ala201Pro)
|
rs760716722
|
|
NM_001605.3(AARS1):c.601G>T (p.Ala201Ser)
|
rs760716722
|
|
NM_001605.3(AARS1):c.602C>G (p.Ala201Gly)
|
rs1028669019
|
|
NM_001605.3(AARS1):c.615C>G (p.Asn205Lys)
|
rs1180375496
|
|
NM_001605.3(AARS1):c.617A>G (p.Gln206Arg)
|
|
|
NM_001605.3(AARS1):c.61A>G (p.Asn21Asp)
|
|
|
NM_001605.3(AARS1):c.621C>G (p.Asp207Glu)
|
rs147424208
|
|
NM_001605.3(AARS1):c.622G>C (p.Asp208His)
|
rs780893599
|
|
NM_001605.3(AARS1):c.623A>C (p.Asp208Ala)
|
|
|
NM_001605.3(AARS1):c.624C>G (p.Asp208Glu)
|
rs1960410317
|
|
NM_001605.3(AARS1):c.63C>G (p.Asn21Lys)
|
|
|
NM_001605.3(AARS1):c.641T>G (p.Ile214Ser)
|
rs1960409749
|
|
NM_001605.3(AARS1):c.648C>G (p.Asn216Lys)
|
rs753186792
|
|
NM_001605.3(AARS1):c.658A>C (p.Ile220Leu)
|
|
|
NM_001605.3(AARS1):c.664T>A (p.Tyr222Asn)
|
rs1960408934
|
|
NM_001605.3(AARS1):c.665A>G (p.Tyr222Cys)
|
|
|
NM_001605.3(AARS1):c.672-10G>T
|
|
|
NM_001605.3(AARS1):c.672-16C>T
|
|
|
NM_001605.3(AARS1):c.682G>A (p.Gly228Ser)
|
|
|
NM_001605.3(AARS1):c.686T>C (p.Ile229Thr)
|
rs530889354
|
|
NM_001605.3(AARS1):c.68A>G (p.His23Arg)
|
|
|
NM_001605.3(AARS1):c.695C>G (p.Pro232Arg)
|
|
|
NM_001605.3(AARS1):c.701C>G (p.Pro234Arg)
|
rs1960368917
|
|
NM_001605.3(AARS1):c.706A>G (p.Lys236Glu)
|
|
|
NM_001605.3(AARS1):c.709A>G (p.Ser237Gly)
|
rs2152162176
|
|
NM_001605.3(AARS1):c.70A>T (p.Thr24Ser)
|
|
|
NM_001605.3(AARS1):c.722G>C (p.Gly241Ala)
|
|
|
NM_001605.3(AARS1):c.726G>C (p.Met242Ile)
|
rs780360628
|
|
NM_001605.3(AARS1):c.739C>A (p.Leu247Met)
|
rs557956516
|
|
NM_001605.3(AARS1):c.743T>C (p.Val248Ala)
|
rs565851586
|
|
NM_001605.3(AARS1):c.74A>G (p.Tyr25Cys)
|
rs1300927114
|
|
NM_001605.3(AARS1):c.756G>C (p.Gln252His)
|
|
|
NM_001605.3(AARS1):c.761A>C (p.Lys254Thr)
|
rs1037360663
|
|
NM_001605.3(AARS1):c.767C>A (p.Ser256Tyr)
|
|
|
NM_001605.3(AARS1):c.773A>G (p.Tyr258Cys)
|
rs1597442205
|
|
NM_001605.3(AARS1):c.778A>G (p.Thr260Ala)
|
rs1165867512
|
|
NM_001605.3(AARS1):c.785_793del (p.Leu262_Val264del)
|
|
|
NM_001605.3(AARS1):c.797A>G (p.Tyr266Cys)
|
rs1567607754
|
|
NM_001605.3(AARS1):c.811C>G (p.Gln271Glu)
|
rs1597442182
|
|
NM_001605.3(AARS1):c.815A>C (p.Lys272Thr)
|
|
|
NM_001605.3(AARS1):c.816+6G>T
|
rs2152162075
|
|
NM_001605.3(AARS1):c.817-3T>C
|
|
|
NM_001605.3(AARS1):c.81C>G (p.His27Gln)
|
|
|
NM_001605.3(AARS1):c.821C>G (p.Thr274Arg)
|
|
|
NM_001605.3(AARS1):c.826G>A (p.Ala276Thr)
|
|
|
NM_001605.3(AARS1):c.830G>C (p.Arg277Pro)
|
|
|
NM_001605.3(AARS1):c.832C>G (p.Pro278Ala)
|
rs1251770154
|
|
NM_001605.3(AARS1):c.832C>T (p.Pro278Ser)
|
|
|
NM_001605.3(AARS1):c.836A>C (p.Tyr279Ser)
|
|
|
NM_001605.3(AARS1):c.83C>T (p.Ser28Leu)
|
rs1326668375
|
|
NM_001605.3(AARS1):c.841G>C (p.Gly281Arg)
|
rs750278639
|
|
NM_001605.3(AARS1):c.850G>A (p.Gly284Ser)
|
|
|
NM_001605.3(AARS1):c.853G>T (p.Ala285Ser)
|
rs2152161765
|
|
NM_001605.3(AARS1):c.856G>A (p.Glu286Lys)
|
rs2152161761
|
|
NM_001605.3(AARS1):c.877A>G (p.Met293Val)
|
rs762420332
|
|
NM_001605.3(AARS1):c.877A>T (p.Met293Leu)
|
|
|
NM_001605.3(AARS1):c.887G>A (p.Arg296Gln)
|
|
|
NM_001605.3(AARS1):c.887G>C (p.Arg296Pro)
|
rs1375611364
|
|
NM_001605.3(AARS1):c.893T>A (p.Leu298Gln)
|
|
|
NM_001605.3(AARS1):c.896C>T (p.Ala299Val)
|
|
|
NM_001605.3(AARS1):c.89C>T (p.Ala30Val)
|
|
|
NM_001605.3(AARS1):c.907C>G (p.Arg303Gly)
|
rs1302363015
|
|
NM_001605.3(AARS1):c.911C>A (p.Thr304Asn)
|
|
|
NM_001605.3(AARS1):c.911C>T (p.Thr304Ile)
|
rs2152161709
|
|
NM_001605.3(AARS1):c.913A>C (p.Ile305Leu)
|
|
|
NM_001605.3(AARS1):c.923C>T (p.Ala308Val)
|
|
|
NM_001605.3(AARS1):c.926T>C (p.Leu309Pro)
|
rs1960350126
|
|
NM_001605.3(AARS1):c.937G>T (p.Gly313Cys)
|
|
|
NM_001605.3(AARS1):c.938G>A (p.Gly313Asp)
|
rs1679069745
|
|
NM_001605.3(AARS1):c.941G>A (p.Arg314Gln)
|
rs370496079
|
|
NM_001605.3(AARS1):c.958C>G (p.Arg320Gly)
|
rs138490305
|
|
NM_001605.3(AARS1):c.967G>T (p.Val323Leu)
|
rs2152160767
|
|
NM_001605.3(AARS1):c.982C>A (p.Leu328Ile)
|
|
|
NM_002047.4(GARS1):c.1001T>C (p.Ile334Thr)
|
rs1554338262
|
|
NM_002047.4(GARS1):c.1002C>G (p.Ile334Met)
|
rs1303447354
|
|
NM_002047.4(GARS1):c.1009C>T (p.Arg337Ter)
|
rs767696937
|
|
NM_002047.4(GARS1):c.1010G>A (p.Arg337Gln)
|
|
|
NM_002047.4(GARS1):c.101G>T (p.Arg34Leu)
|
|
|
NM_002047.4(GARS1):c.1031+1G>A
|
rs1554338272
|
|
NM_002047.4(GARS1):c.1031+6G>T
|
rs2128134034
|
|
NM_002047.4(GARS1):c.1032-6T>C
|
|
|
NM_002047.4(GARS1):c.1046C>T (p.Ala349Val)
|
|
|
NM_002047.4(GARS1):c.104C>G (p.Ser35Cys)
|
rs770934994
|
|
NM_002047.4(GARS1):c.1067A>G (p.Asp356Gly)
|
|
|
NM_002047.4(GARS1):c.1068T>A (p.Asp356Glu)
|
rs1344399581
|
|
NM_002047.4(GARS1):c.1088C>G (p.Pro363Arg)
|
|
|
NM_002047.4(GARS1):c.1092G>T (p.Lys364Asn)
|
rs1357360844
|
|
NM_002047.4(GARS1):c.1109A>G (p.Asp370Gly)
|
|
|
NM_002047.4(GARS1):c.110G>A (p.Ser37Asn)
|
rs2128131936
|
|
NM_002047.4(GARS1):c.110del (p.Ser37fs)
|
rs1284420601
|
|
NM_002047.4(GARS1):c.1154A>G (p.Gln385Arg)
|
rs2128134481
|
|
NM_002047.4(GARS1):c.1155G>C (p.Gln385His)
|
rs1584038245
|
|
NM_002047.4(GARS1):c.1162C>G (p.Arg388Gly)
|
rs759277467
|
|
NM_002047.4(GARS1):c.1162C>T (p.Arg388Trp)
|
rs759277467
|
|
NM_002047.4(GARS1):c.1168A>G (p.Met390Val)
|
|
|
NM_002047.4(GARS1):c.1171C>A (p.Arg391Ser)
|
rs370057212
|
|
NM_002047.4(GARS1):c.1171C>T (p.Arg391Cys)
|
rs370057212
|
|
NM_002047.4(GARS1):c.1172G>T (p.Arg391Leu)
|
|
|
NM_002047.4(GARS1):c.1181A>G (p.Asp394Gly)
|
rs1278294610
|
|
NM_002047.4(GARS1):c.1186G>A (p.Val396Ile)
|
rs1060502836
|
|
NM_002047.4(GARS1):c.1198G>A (p.Val400Met)
|
rs1782903666
|
|
NM_002047.4(GARS1):c.11C>G (p.Pro4Arg)
|
|
|
NM_002047.4(GARS1):c.1208A>G (p.Asn403Ser)
|
rs1000458033
|
|
NM_002047.4(GARS1):c.1225T>G (p.Phe409Val)
|
rs1782904125
|
|
NM_002047.4(GARS1):c.1227C>A (p.Phe409Leu)
|
rs1241301935
|
|
NM_002047.4(GARS1):c.1235G>A (p.Arg412His)
|
|
|
NM_002047.4(GARS1):c.1237A>G (p.Ile413Val)
|
|
|
NM_002047.4(GARS1):c.1264A>C (p.Ile422Leu)
|
|
|
NM_002047.4(GARS1):c.1282C>T (p.Arg428Cys)
|
rs951085877
|
|
NM_002047.4(GARS1):c.1283G>T (p.Arg428Leu)
|
rs1203971547
|
|
NM_002047.4(GARS1):c.1289G>A (p.Arg430Gln)
|
rs1430190191
|
|
NM_002047.4(GARS1):c.128C>G (p.Pro43Arg)
|
rs570608946
|
|
NM_002047.4(GARS1):c.1291C>A (p.Gln431Lys)
|
rs375133923
|
|
NM_002047.4(GARS1):c.1315C>T (p.His439Tyr)
|
rs1782906838
|
|
NM_002047.4(GARS1):c.131T>G (p.Ile44Ser)
|
rs1791215308
|
|
NM_002047.4(GARS1):c.1337A>T (p.Asp446Val)
|
rs1554338834
|
|
NM_002047.4(GARS1):c.1348A>G (p.Lys450Glu)
|
|
|
NM_002047.4(GARS1):c.1359+3A>G
|
|
|
NM_002047.4(GARS1):c.1379G>C (p.Gly460Ala)
|
rs924595179
|
|
NM_002047.4(GARS1):c.1381T>C (p.Cys461Arg)
|
|
|
NM_002047.4(GARS1):c.1387G>T (p.Asp463Tyr)
|
rs1554339284
|
|
NM_002047.4(GARS1):c.1391_1407del (p.Arg464fs)
|
rs2128135088
|
|
NM_002047.4(GARS1):c.1396T>C (p.Cys466Arg)
|
rs2128135092
|
|
NM_002047.4(GARS1):c.1397G>T (p.Cys466Phe)
|
rs756498678
|
|
NM_002047.4(GARS1):c.1400A>T (p.Tyr467Phe)
|
|
|
NM_002047.4(GARS1):c.1409C>G (p.Ser470Cys)
|
|
|
NM_002047.4(GARS1):c.1411T>A (p.Cys471Ser)
|
|
|
NM_002047.4(GARS1):c.1421G>A (p.Arg474Gln)
|
rs1345590827
|
|
NM_002047.4(GARS1):c.1433T>A (p.Val478Asp)
|
rs2128135103
|
|
NM_002047.4(GARS1):c.1447G>A (p.Glu483Lys)
|
|
|
NM_002047.4(GARS1):c.1454C>G (p.Pro485Arg)
|
|
|
NM_002047.4(GARS1):c.145G>C (p.Ala49Pro)
|
|
|
NM_002047.4(GARS1):c.1490T>G (p.Phe497Cys)
|
|
|
NM_002047.4(GARS1):c.1499G>C (p.Ser500Thr)
|
|
|
NM_002047.4(GARS1):c.1510A>G (p.Ile504Val)
|
|
|
NM_002047.4(GARS1):c.1531G>C (p.Asp511His)
|
|
|
NM_002047.4(GARS1):c.154C>G (p.Arg52Gly)
|
|
|
NM_002047.4(GARS1):c.1568A>T (p.Asp523Val)
|
rs779225125
|
|
NM_002047.4(GARS1):c.1574G>A (p.Cys525Tyr)
|
rs758225567
|
|
NM_002047.4(GARS1):c.1592A>C (p.Glu531Ala)
|
rs1783032476
|
|
NM_002047.4(GARS1):c.1592A>G (p.Glu531Gly)
|
|
|
NM_002047.4(GARS1):c.1613+3A>G
|
|
|
NM_002047.4(GARS1):c.1614-13T>A
|
|
|
NM_002047.4(GARS1):c.1622C>G (p.Thr541Arg)
|
rs745739050
|
|
NM_002047.4(GARS1):c.1625T>C (p.Ile542Thr)
|
|
|
NM_002047.4(GARS1):c.1646T>C (p.Phe549Ser)
|
|
|
NM_002047.4(GARS1):c.164T>C (p.Met55Thr)
|
|
|
NM_002047.4(GARS1):c.1657A>G (p.Lys553Glu)
|
rs1783125497
|
|
NM_002047.4(GARS1):c.1675A>G (p.Lys559Glu)
|
|
|
NM_002047.4(GARS1):c.1697A>G (p.Tyr566Cys)
|
|
|
NM_002047.4(GARS1):c.1699+6T>A
|
rs1362621582
|
|
NM_002047.4(GARS1):c.1700-1G>A
|
rs1584051498
|
|
NM_002047.4(GARS1):c.1719T>G (p.Asn573Lys)
|
rs1242186885
|
|
NM_002047.4(GARS1):c.1720G>A (p.Val574Ile)
|
|
|
NM_002047.4(GARS1):c.1744_1745delinsAA (p.Gly582Asn)
|
|
|
NM_002047.4(GARS1):c.1745G>A (p.Gly582Asp)
|
rs2128135873
|
|
NM_002047.4(GARS1):c.1786C>T (p.Arg596Ter)
|
|
|
NM_002047.4(GARS1):c.1790_1792del (p.Glu597del)
|
rs879254345
|
|
NM_002047.4(GARS1):c.17C>T (p.Pro6Leu)
|
|
|
NM_002047.4(GARS1):c.1805G>A (p.Arg602Lys)
|
|
|
NM_002047.4(GARS1):c.1809+1G>A
|
rs1554340340
|
|
NM_002047.4(GARS1):c.1810-2A>T
|
|
|
NM_002047.4(GARS1):c.1817G>C (p.Ser606Thr)
|
|
|
NM_002047.4(GARS1):c.1850C>A (p.Ser617Tyr)
|
rs765235116
|
|
NM_002047.4(GARS1):c.1885C>G (p.Pro629Ala)
|
|
|
NM_002047.4(GARS1):c.1902A>G (p.Leu634=)
|
rs2128136213
|
|
NM_002047.4(GARS1):c.1903+16T>A
|
|
|
NM_002047.4(GARS1):c.190_192dup (p.Leu64dup)
|
rs1562769487
|
|
NM_002047.4(GARS1):c.1927G>A (p.Val643Ile)
|
rs1554340789
|
|
NM_002047.4(GARS1):c.1943A>G (p.Asp648Gly)
|
|
|
NM_002047.4(GARS1):c.194C>A (p.Ala65Glu)
|
|
|
NM_002047.4(GARS1):c.194C>T (p.Ala65Val)
|
rs1179352387
|
|
NM_002047.4(GARS1):c.1970G>A (p.Arg657His)
|
|
|
NM_002047.4(GARS1):c.197C>G (p.Pro66Arg)
|
|
|
NM_002047.4(GARS1):c.1981A>G (p.Thr661Ala)
|
rs1783252231
|
|
NM_002047.4(GARS1):c.1A>T (p.Met1Leu)
|
rs1345458433
|
|
NM_002047.4(GARS1):c.2005G>A (p.Gly669Ser)
|
|
|
NM_002047.4(GARS1):c.2014A>G (p.Ile672Val)
|
rs1562784262
|
|
NM_002047.4(GARS1):c.2015T>C (p.Ile672Thr)
|
rs1554340824
|
|
NM_002047.4(GARS1):c.2029G>C (p.Val677Leu)
|
rs2128136305
|
|
NM_002047.4(GARS1):c.2037del (p.Thr680fs)
|
|
|
NM_002047.4(GARS1):c.2047A>G (p.Thr683Ala)
|
|
|
NM_002047.4(GARS1):c.2062G>C (p.Asp688His)
|
|
|
NM_002047.4(GARS1):c.2065C>T (p.Arg689Cys)
|
rs376308368
|
|
NM_002047.4(GARS1):c.2073_2074del (p.Met692fs)
|
|
|
NM_002047.4(GARS1):c.2110A>G (p.Ser704Gly)
|
|
|
NM_002047.4(GARS1):c.2121A>C (p.Gln707His)
|
rs1554340999
|
|
NM_002047.4(GARS1):c.212T>C (p.Val71Ala)
|
|
|
NM_002047.4(GARS1):c.2159A>T (p.Glu720Val)
|
|
|
NM_002047.4(GARS1):c.2165_2169del (p.Arg722fs)
|
|
|
NM_002047.4(GARS1):c.2182G>A (p.Gly728Arg)
|
rs1422434626
|
|
NM_002047.4(GARS1):c.2188G>C (p.Glu730Gln)
|
rs1783283131
|
|
NM_002047.4(GARS1):c.218A>T (p.Gln73Leu)
|
|
|
NM_002047.4(GARS1):c.2193T>A (p.Thr731=)
|
|
|
NM_002047.4(GARS1):c.2198A>T (p.Lys733Ile)
|
|
|
NM_002047.4(GARS1):c.2206A>G (p.Thr736Ala)
|
rs1785775131
|
|
NM_002047.4(GARS1):c.2209A>G (p.Ile737Val)
|
|
|
NM_002047.4(GARS1):c.2218T>A (p.Ter740Arg)
|
|
|
NM_002047.4(GARS1):c.2219G>A (p.Ter740=)
|
|
|
NM_002047.4(GARS1):c.222+6G>A
|
|
|
NM_002047.4(GARS1):c.2220A>C (p.Ter740Cys)
|
rs1783284502
|
|
NM_002047.4(GARS1):c.250G>A (p.Asp84Asn)
|
rs2128132417
|
|
NM_002047.4(GARS1):c.263A>G (p.Gln88Arg)
|
|
|
NM_002047.4(GARS1):c.28A>G (p.Arg10Gly)
|
|
|
NM_002047.4(GARS1):c.309G>C (p.Arg103Ser)
|
rs768571328
|
|
NM_002047.4(GARS1):c.311T>C (p.Val104Ala)
|
|
|
NM_002047.4(GARS1):c.313C>G (p.Leu105Val)
|
rs1791317535
|
|
NM_002047.4(GARS1):c.324G>A (p.Lys108=)
|
|
|
NM_002047.4(GARS1):c.325-2A>G
|
|
|
NM_002047.4(GARS1):c.325G>A (p.Glu109Lys)
|
rs1036198120
|
|
NM_002047.4(GARS1):c.344A>G (p.Lys115Arg)
|
rs1554336991
|
|
NM_002047.4(GARS1):c.348T>G (p.Asp116Glu)
|
rs2128132552
|
|
NM_002047.4(GARS1):c.353T>C (p.Ile118Thr)
|
rs1791340048
|
|
NM_002047.4(GARS1):c.373G>C (p.Glu125Gln)
|
rs797044855
|
|
NM_002047.4(GARS1):c.376G>A (p.Asp126Asn)
|
|
|
NM_002047.4(GARS1):c.377A>T (p.Asp126Val)
|
rs766540026
|
|
NM_002047.4(GARS1):c.38_39delinsCT (p.Arg13Pro)
|
rs1554336495
|
|
NM_002047.4(GARS1):c.406C>A (p.Gln136Lys)
|
rs2128132565
|
|
NM_002047.4(GARS1):c.418A>C (p.Ile140Leu)
|
rs888805042
|
|
NM_002047.4(GARS1):c.418A>G (p.Ile140Val)
|
|
|
NM_002047.4(GARS1):c.427G>A (p.Gly143Ser)
|
rs1584022929
|
|
NM_002047.4(GARS1):c.446A>G (p.Asp149Gly)
|
rs1791365947
|
|
NM_002047.4(GARS1):c.450T>A (p.Phe150Leu)
|
rs751505742
|
|
NM_002047.4(GARS1):c.463T>A (p.Cys155Ser)
|
|
|
NM_002047.4(GARS1):c.47TGC[6] (p.Leu20dup)
|
rs150213018
|
|
NM_002047.4(GARS1):c.47TGC[7] (p.Leu19_Leu20dup)
|
rs150213018
|
|
NM_002047.4(GARS1):c.516_517delinsTA (p.Glu172_Glu173delinsAspLys)
|
rs2128132720
|
|
NM_002047.4(GARS1):c.532A>G (p.Ile178Val)
|
rs1791369066
|
|
NM_002047.4(GARS1):c.534C>G (p.Ile178Met)
|
rs774732829
|
|
NM_002047.4(GARS1):c.535G>A (p.Asp179Asn)
|
|
|
NM_002047.4(GARS1):c.542C>T (p.Thr181Ile)
|
rs1425456318
|
|
NM_002047.4(GARS1):c.570-8T>G
|
|
|
NM_002047.4(GARS1):c.575C>G (p.Ser192Cys)
|
|
|
NM_002047.4(GARS1):c.578G>A (p.Gly193Asp)
|
rs1791411808
|
|
NM_002047.4(GARS1):c.5C>T (p.Pro2Leu)
|
|
|
NM_002047.4(GARS1):c.614A>T (p.Asp205Val)
|
rs2128132956
|
|
NM_002047.4(GARS1):c.614_615delinsTA (p.Asp205Val)
|
rs2128132958
|
|
NM_002047.4(GARS1):c.616G>A (p.Val206Ile)
|
rs1584026136
|
|
NM_002047.4(GARS1):c.628G>T (p.Glu210Ter)
|
rs1791412752
|
|
NM_002047.4(GARS1):c.638G>A (p.Arg213His)
|
rs780116880
|
|
NM_002047.4(GARS1):c.641C>A (p.Ala214Asp)
|
|
|
NM_002047.4(GARS1):c.656A>C (p.Lys219Thr)
|
|
|
NM_002047.4(GARS1):c.659-14C>G
|
|
|
NM_002047.4(GARS1):c.659-3del
|
rs1791421299
|
|
NM_002047.4(GARS1):c.659C>A (p.Ala220Asp)
|
|
|
NM_002047.4(GARS1):c.683A>C (p.Asp228Ala)
|
rs1791422443
|
|
NM_002047.4(GARS1):c.685AAG[1] (p.Lys230del)
|
|
|
NM_002047.4(GARS1):c.689A>G (p.Lys230Arg)
|
|
|
NM_002047.4(GARS1):c.691T>G (p.Cys231Gly)
|
rs1584026626
|
|
NM_002047.4(GARS1):c.694del (p.Ser232fs)
|
rs1791422813
|
|
NM_002047.4(GARS1):c.695C>T (p.Ser232Phe)
|
|
|
NM_002047.4(GARS1):c.701A>G (p.Glu234Gly)
|
|
|
NM_002047.4(GARS1):c.705G>T (p.Lys235Asn)
|
rs759012168
|
|
NM_002047.4(GARS1):c.710C>A (p.Ser237Ter)
|
rs2128133017
|
|
NM_002047.4(GARS1):c.719A>C (p.Glu240Ala)
|
rs1791423440
|
|
NM_002047.4(GARS1):c.719A>T (p.Glu240Val)
|
rs1791423440
|
|
NM_002047.4(GARS1):c.722G>C (p.Ser241Thr)
|
rs775140242
|
|
NM_002047.4(GARS1):c.751C>G (p.Gln251Glu)
|
|
|
NM_002047.4(GARS1):c.764C>A (p.Ala255Glu)
|
rs765478968
|
|
NM_002047.4(GARS1):c.770T>A (p.Leu257His)
|
|
|
NM_002047.4(GARS1):c.790_792del (p.Lys264del)
|
rs1791556326
|
|
NM_002047.4(GARS1):c.801T>G (p.Ile267Met)
|
|
|
NM_002047.4(GARS1):c.80G>A (p.Arg27Gln)
|
|
|
NM_002047.4(GARS1):c.818C>T (p.Ser273Phe)
|
rs1554337983
|
|
NM_002047.4(GARS1):c.835A>G (p.Asn279Asp)
|
|
|
NM_002047.4(GARS1):c.837C>A (p.Asn279Lys)
|
|
|
NM_002047.4(GARS1):c.842T>A (p.Met281Lys)
|
rs1791558334
|
|
NM_002047.4(GARS1):c.857T>C (p.Ile286Thr)
|
|
|
NM_002047.4(GARS1):c.878C>T (p.Pro293Leu)
|
|
|
NM_002047.4(GARS1):c.883T>A (p.Tyr295Asn)
|
rs1782769087
|
|
NM_002047.4(GARS1):c.884dup (p.Tyr295Ter)
|
|
|
NM_002047.4(GARS1):c.895G>C (p.Glu299Gln)
|
|
|
NM_002047.4(GARS1):c.8C>A (p.Ser3Tyr)
|
rs1184401493
|
|
NM_002047.4(GARS1):c.93_94delinsCG (p.Leu32Val)
|
|
|
NM_002047.4(GARS1):c.944A>G (p.Asn315Ser)
|
|
|
NM_002047.4(GARS1):c.953A>T (p.Lys318Met)
|
rs2128134017
|
|
NM_002047.4(GARS1):c.968C>T (p.Ala323Val)
|
rs2128134021
|
|
NM_002047.4(GARS1):c.979G>C (p.Gly327Arg)
|
rs1584034430
|
|
NM_002047.4(GARS1):c.982A>G (p.Asn328Asp)
|
|
|
NM_002180.2(IGHMBP2):c.57_58inv (p.Glu20Lys)
|
|
|
NM_002180.3(IGHMBP2):c.1000G>A (p.Glu334Lys)
|
rs1594431740
|
|
NM_002180.3(IGHMBP2):c.103A>C (p.Ile35Leu)
|
rs199586231
|
|
NM_002180.3(IGHMBP2):c.1041_1043del (p.Val348del)
|
rs1858730437
|
|
NM_002180.3(IGHMBP2):c.1058C>G (p.Thr353Arg)
|
rs1368446033
|
|
NM_002180.3(IGHMBP2):c.1067C>T (p.Ser356Phe)
|
rs2154008237
|
|
NM_002180.3(IGHMBP2):c.1079C>G (p.Pro360Arg)
|
rs1768499175
|
|
NM_002180.3(IGHMBP2):c.1117G>T (p.Val373Phe)
|
rs2154008241
|
|
NM_002180.3(IGHMBP2):c.1136A>G (p.Gln379Arg)
|
rs2154008248
|
|
NM_002180.3(IGHMBP2):c.1160T>A (p.Ile387Asn)
|
|
|
NM_002180.3(IGHMBP2):c.1208A>G (p.Gln403Arg)
|
rs1555246489
|
|
NM_002180.3(IGHMBP2):c.1214C>G (p.Pro405Arg)
|
|
|
NM_002180.3(IGHMBP2):c.1244T>A (p.Leu415Gln)
|
|
|
NM_002180.3(IGHMBP2):c.1279G>C (p.Ala427Pro)
|
rs1594451196
|
|
NM_002180.3(IGHMBP2):c.1291G>A (p.Gly431Ser)
|
|
|
NM_002180.3(IGHMBP2):c.1294_1295delinsTT (p.Ala432Leu)
|
rs1859389487
|
|
NM_002180.3(IGHMBP2):c.1301T>G (p.Val434Gly)
|
rs1464006744
|
|
NM_002180.3(IGHMBP2):c.1323G>C (p.Gln441His)
|
rs2154008602
|
|
NM_002180.3(IGHMBP2):c.1328G>C (p.Arg443Pro)
|
|
|
NM_002180.3(IGHMBP2):c.1360G>A (p.Asp454Asn)
|
rs1859394402
|
|
NM_002180.3(IGHMBP2):c.1363A>C (p.Thr455Pro)
|
rs775232759
|
|
NM_002180.3(IGHMBP2):c.1372C>T (p.Leu458Phe)
|
|
|
NM_002180.3(IGHMBP2):c.1399G>A (p.Val467Met)
|
rs755120725
|
|
NM_002180.3(IGHMBP2):c.1418+4_1418+5del
|
|
|
NM_002180.3(IGHMBP2):c.1418+5G>A
|
|
|
NM_002180.3(IGHMBP2):c.1418G>A (p.Arg473Lys)
|
rs1594451539
|
|
NM_002180.3(IGHMBP2):c.1432G>A (p.Val478Met)
|
rs2154008642
|
|
NM_002180.3(IGHMBP2):c.1460C>G (p.Pro487Arg)
|
|
|
NM_002180.3(IGHMBP2):c.1471G>A (p.Val491Met)
|
|
|
NM_002180.3(IGHMBP2):c.1489G>A (p.Gly497Arg)
|
rs764111837
|
|
NM_002180.3(IGHMBP2):c.1489G>T (p.Gly497Trp)
|
rs764111837
|
|
NM_002180.3(IGHMBP2):c.1528G>A (p.Gly510Arg)
|
rs1049595127
|
|
NM_002180.3(IGHMBP2):c.1529G>C (p.Gly510Ala)
|
rs772984773
|
|
NM_002180.3(IGHMBP2):c.1531A>T (p.Asn511Tyr)
|
rs1859418981
|
|
NM_002180.3(IGHMBP2):c.154G>A (p.Val52Ile)
|
rs926718557
|
|
NM_002180.3(IGHMBP2):c.154G>C (p.Val52Leu)
|
rs926718557
|
|
NM_002180.3(IGHMBP2):c.1562A>G (p.His521Arg)
|
rs1555247556
|
|
NM_002180.3(IGHMBP2):c.1564A>G (p.Ile522Val)
|
rs1859447330
|
|
NM_002180.3(IGHMBP2):c.1568A>G (p.Gln523Arg)
|
rs1594452962
|
|
NM_002180.3(IGHMBP2):c.158C>T (p.Ser53Phe)
|
rs1178878248
|
|
NM_002180.3(IGHMBP2):c.1591C>A (p.Pro531Thr)
|
rs756985703
|
|
NM_002180.3(IGHMBP2):c.1633G>T (p.Val545Leu)
|
rs1859480727
|
|
NM_002180.3(IGHMBP2):c.1637A>C (p.Asp546Ala)
|
rs1566445036
|
|
NM_002180.3(IGHMBP2):c.1664G>A (p.Arg555Lys)
|
rs2154008764
|
|
NM_002180.3(IGHMBP2):c.1669C>A (p.Pro557Thr)
|
rs7122089
|
|
NM_002180.3(IGHMBP2):c.166C>A (p.Arg56Ser)
|
rs201649839
|
|
NM_002180.3(IGHMBP2):c.1681A>G (p.Ile561Val)
|
|
|
NM_002180.3(IGHMBP2):c.1684A>G (p.Lys562Glu)
|
rs1566445093
|
|
NM_002180.3(IGHMBP2):c.1699T>G (p.Phe567Val)
|
rs1859483901
|
|
NM_002180.3(IGHMBP2):c.1709G>A (p.Arg570Gln)
|
|
|
NM_002180.3(IGHMBP2):c.1718A>G (p.Glu573Gly)
|
rs1566445153
|
|
NM_002180.3(IGHMBP2):c.1736T>G (p.Phe579Cys)
|
rs1566445212
|
|
NM_002180.3(IGHMBP2):c.173G>C (p.Gly58Ala)
|
rs2154006539
|
|
NM_002180.3(IGHMBP2):c.1762G>A (p.Val588Ile)
|
rs1566445855
|
|
NM_002180.3(IGHMBP2):c.1781A>C (p.Asp594Ala)
|
rs777841793
|
|
NM_002180.3(IGHMBP2):c.1805C>T (p.Thr602Ile)
|
rs779182888
|
|
NM_002180.3(IGHMBP2):c.181G>A (p.Gly61Arg)
|
rs1057518943
|
|
NM_002180.3(IGHMBP2):c.1822G>A (p.Val608Met)
|
rs573382473
|
|
NM_002180.3(IGHMBP2):c.184C>G (p.Arg62Gly)
|
rs768631087
|
|
NM_002180.3(IGHMBP2):c.184C>T (p.Arg62Trp)
|
rs768631087
|
|
NM_002180.3(IGHMBP2):c.1859A>G (p.His620Arg)
|
|
|
NM_002180.3(IGHMBP2):c.1890C>G (p.Phe630Leu)
|
|
|
NM_002180.3(IGHMBP2):c.1892C>G (p.Thr631Arg)
|
|
|
NM_002180.3(IGHMBP2):c.1898A>G (p.His633Arg)
|
rs1594455594
|
|
NM_002180.3(IGHMBP2):c.1905A>G (p.Glu635=)
|
|
|
NM_002180.3(IGHMBP2):c.1924T>C (p.Tyr642His)
|
rs1413846126
|
|
NM_002180.3(IGHMBP2):c.193G>A (p.Val65Ile)
|
|
|
NM_002180.3(IGHMBP2):c.1958A>C (p.His653Pro)
|
rs1859530717
|
|
NM_002180.3(IGHMBP2):c.1964A>G (p.Asn655Ser)
|
rs753926352
|
|
NM_002180.3(IGHMBP2):c.2012C>G (p.Thr671Arg)
|
rs377743886
|
|
NM_002180.3(IGHMBP2):c.2043G>C (p.Glu681Asp)
|
rs1859535346
|
|
NM_002180.3(IGHMBP2):c.2054A>T (p.Glu685Val)
|
rs1859535801
|
|
NM_002180.3(IGHMBP2):c.2056G>A (p.Ala686Thr)
|
rs1859535898
|
|
NM_002180.3(IGHMBP2):c.2116G>A (p.Ala706Thr)
|
rs746334377
|
|
NM_002180.3(IGHMBP2):c.2129C>T (p.Pro710Leu)
|
rs1594456094
|
|
NM_002180.3(IGHMBP2):c.2132G>C (p.Ser711Thr)
|
|
|
NM_002180.3(IGHMBP2):c.2133C>G (p.Ser711Arg)
|
rs879254320
|
|
NM_002180.3(IGHMBP2):c.2152G>C (p.Glu718Gln)
|
|
|
NM_002180.3(IGHMBP2):c.2183A>G (p.His728Arg)
|
|
|
NM_002180.3(IGHMBP2):c.2183A>T (p.His728Leu)
|
rs536678728
|
|
NM_002180.3(IGHMBP2):c.2205G>C (p.Glu735Asp)
|
rs1594456265
|
|
NM_002180.3(IGHMBP2):c.2209A>G (p.Met737Val)
|
rs1042285874
|
|
NM_002180.3(IGHMBP2):c.2222A>G (p.Lys741Arg)
|
rs1859546493
|
|
NM_002180.3(IGHMBP2):c.2240C>G (p.Pro747Arg)
|
|
|
NM_002180.3(IGHMBP2):c.2265G>T (p.Arg755Ser)
|
|
|
NM_002180.3(IGHMBP2):c.2270G>A (p.Arg757Gln)
|
|
|
NM_002180.3(IGHMBP2):c.2295C>G (p.His765Gln)
|
rs149185954
|
|
NM_002180.3(IGHMBP2):c.229G>C (p.Ala77Pro)
|
rs778774954
|
|
NM_002180.3(IGHMBP2):c.2349C>T (p.Ser783=)
|
|
|
NM_002180.3(IGHMBP2):c.2374G>A (p.Ala792Thr)
|
rs766802836
|
|
NM_002180.3(IGHMBP2):c.2383C>T (p.Pro795Ser)
|
rs760161861
|
|
NM_002180.3(IGHMBP2):c.2386C>G (p.Pro796Ala)
|
rs1438075631
|
|
NM_002180.3(IGHMBP2):c.2392G>A (p.Gly798Arg)
|
|
|
NM_002180.3(IGHMBP2):c.2425C>T (p.Pro809Ser)
|
rs1464851091
|
|
NM_002180.3(IGHMBP2):c.2437G>A (p.Ala813Thr)
|
|
|
NM_002180.3(IGHMBP2):c.2438C>A (p.Ala813Glu)
|
rs779854653
|
|
NM_002180.3(IGHMBP2):c.2446G>C (p.Glu816Gln)
|
rs950453484
|
|
NM_002180.3(IGHMBP2):c.2452C>A (p.Pro818Thr)
|
|
|
NM_002180.3(IGHMBP2):c.250A>G (p.Thr84Ala)
|
rs2154006546
|
|
NM_002180.3(IGHMBP2):c.2513T>G (p.Leu838Arg)
|
rs755843076
|
|
NM_002180.3(IGHMBP2):c.254C>T (p.Ser85Phe)
|
|
|
NM_002180.3(IGHMBP2):c.2558A>G (p.Gln853Arg)
|
|
|
NM_002180.3(IGHMBP2):c.257G>A (p.Gly86Asp)
|
rs1594417834
|
|
NM_002180.3(IGHMBP2):c.2592G>T (p.Lys864Asn)
|
rs766051417
|
|
NM_002180.3(IGHMBP2):c.2599A>G (p.Lys867Glu)
|
rs753639706
|
|
NM_002180.3(IGHMBP2):c.2606_2611dup (p.Ala869_Lys870dup)
|
rs2154008959
|
|
NM_002180.3(IGHMBP2):c.2611G>A (p.Gly871Arg)
|
rs1859576991
|
|
NM_002180.3(IGHMBP2):c.2617C>G (p.Pro873Ala)
|
rs914944175
|
|
NM_002180.3(IGHMBP2):c.2636C>T (p.Thr879Met)
|
rs17612126
|
|
NM_002180.3(IGHMBP2):c.2653G>A (p.Ala885Thr)
|
rs1386297763
|
|
NM_002180.3(IGHMBP2):c.2704T>C (p.Cys902Arg)
|
rs1064796817
|
|
NM_002180.3(IGHMBP2):c.2711C>T (p.Ala904Val)
|
|
|
NM_002180.3(IGHMBP2):c.2755C>A (p.Arg919Ser)
|
rs145945230
|
|
NM_002180.3(IGHMBP2):c.2755C>T (p.Arg919Cys)
|
rs145945230
|
|
NM_002180.3(IGHMBP2):c.2756G>A (p.Arg919His)
|
rs148605058
|
|
NM_002180.3(IGHMBP2):c.2771A>C (p.His924Pro)
|
rs1566448570
|
|
NM_002180.3(IGHMBP2):c.2785-3C>G
|
rs1859669997
|
|
NM_002180.3(IGHMBP2):c.2785-3C>T
|
rs1859669997
|
|
NM_002180.3(IGHMBP2):c.2785-7_2785-4del
|
|
|
NM_002180.3(IGHMBP2):c.2788C>T (p.His930Tyr)
|
|
|
NM_002180.3(IGHMBP2):c.2789A>G (p.His930Arg)
|
rs1594459783
|
|
NM_002180.3(IGHMBP2):c.2809C>T (p.Arg937Cys)
|
|
|
NM_002180.3(IGHMBP2):c.2816A>G (p.His939Arg)
|
rs751847212
|
|
NM_002180.3(IGHMBP2):c.2818G>A (p.Ala940Thr)
|
rs757839224
|
|
NM_002180.3(IGHMBP2):c.2829A>C (p.Arg943Ser)
|
rs1859672618
|
|
NM_002180.3(IGHMBP2):c.2840A>G (p.Glu947Gly)
|
|
|
NM_002180.3(IGHMBP2):c.2852A>G (p.Tyr951Cys)
|
|
|
NM_002180.3(IGHMBP2):c.2857G>T (p.Gly953Cys)
|
rs775514650
|
|
NM_002180.3(IGHMBP2):c.2858G>T (p.Gly953Val)
|
rs1859674357
|
|
NM_002180.3(IGHMBP2):c.2861G>A (p.Ser954Asn)
|
rs2154009288
|
|
NM_002180.3(IGHMBP2):c.2863G>A (p.Gly955Arg)
|
|
|
NM_002180.3(IGHMBP2):c.2863G>C (p.Gly955Arg)
|
rs764208218
|
|
NM_002180.3(IGHMBP2):c.2894A>G (p.Lys965Arg)
|
|
|
NM_002180.3(IGHMBP2):c.292G>C (p.Gly98Arg)
|
rs1858277137
|
|
NM_002180.3(IGHMBP2):c.2946C>G (p.Asn982Lys)
|
rs865849237
|
|
NM_002180.3(IGHMBP2):c.2954C>G (p.Thr985Ser)
|
rs2154009308
|
|
NM_002180.3(IGHMBP2):c.2959C>T (p.Arg987Trp)
|
rs1440519538
|
|
NM_002180.3(IGHMBP2):c.2963G>A (p.Arg988Lys)
|
|
|
NM_002180.3(IGHMBP2):c.2975G>T (p.Gly992Val)
|
rs886048608
|
|
NM_002180.3(IGHMBP2):c.2977A>C (p.Thr993Pro)
|
rs1271968797
|
|
NM_002180.3(IGHMBP2):c.314T>C (p.Ile105Thr)
|
rs1858278685
|
|
NM_002180.3(IGHMBP2):c.320C>G (p.Thr107Ser)
|
rs767244307
|
|
NM_002180.3(IGHMBP2):c.333G>C (p.Gln111His)
|
rs1858279805
|
|
NM_002180.3(IGHMBP2):c.333G>T (p.Gln111His)
|
rs1858279805
|
|
NM_002180.3(IGHMBP2):c.361T>A (p.Ser121Thr)
|
rs1858281719
|
|
NM_002180.3(IGHMBP2):c.364C>A (p.His122Asn)
|
|
|
NM_002180.3(IGHMBP2):c.367G>A (p.Asp123Asn)
|
rs1004055119
|
|
NM_002180.3(IGHMBP2):c.367G>C (p.Asp123His)
|
rs1004055119
|
|
NM_002180.3(IGHMBP2):c.375G>T (p.Gln125His)
|
|
|
NM_002180.3(IGHMBP2):c.464T>C (p.Leu155Pro)
|
rs1594418365
|
|
NM_002180.3(IGHMBP2):c.46C>G (p.Leu16Val)
|
|
|
NM_002180.3(IGHMBP2):c.470A>T (p.Lys157Met)
|
rs1858294631
|
|
NM_002180.3(IGHMBP2):c.521C>T (p.Ser174Phe)
|
|
|
NM_002180.3(IGHMBP2):c.532C>G (p.Pro178Ala)
|
rs1566425176
|
|
NM_002180.3(IGHMBP2):c.532C>T (p.Pro178Ser)
|
rs1566425176
|
|
NM_002180.3(IGHMBP2):c.538A>G (p.Ser180Gly)
|
|
|
NM_002180.3(IGHMBP2):c.551C>G (p.Pro184Arg)
|
|
|
NM_002180.3(IGHMBP2):c.588G>C (p.Gln196His)
|
rs1280728139
|
|
NM_002180.3(IGHMBP2):c.598G>A (p.Val200Ile)
|
rs369509318
|
|
NM_002180.3(IGHMBP2):c.613T>C (p.Ser205Pro)
|
|
|
NM_002180.3(IGHMBP2):c.617A>G (p.Gln206Arg)
|
|
|
NM_002180.3(IGHMBP2):c.641G>C (p.Gly214Ala)
|
rs1566427330
|
|
NM_002180.3(IGHMBP2):c.644C>G (p.Pro215Arg)
|
rs752135303
|
|
NM_002180.3(IGHMBP2):c.64G>T (p.Asp22Tyr)
|
rs771853806
|
|
NM_002180.3(IGHMBP2):c.659A>G (p.Lys220Arg)
|
rs1555243301
|
|
NM_002180.3(IGHMBP2):c.660A>C (p.Lys220Asn)
|
rs863224881
|
|
NM_002180.3(IGHMBP2):c.660A>T (p.Lys220Asn)
|
|
|
NM_002180.3(IGHMBP2):c.664A>G (p.Thr222Ala)
|
rs1858437723
|
|
NM_002180.3(IGHMBP2):c.678G>C (p.Glu226Asp)
|
rs1594422735
|
|
NM_002180.3(IGHMBP2):c.686T>G (p.Leu229Arg)
|
rs2154006946
|
|
NM_002180.3(IGHMBP2):c.70G>A (p.Glu24Lys)
|
|
|
NM_002180.3(IGHMBP2):c.715C>G (p.Leu239Val)
|
rs1858583764
|
|
NM_002180.3(IGHMBP2):c.728C>G (p.Pro243Arg)
|
rs1858584931
|
|
NM_002180.3(IGHMBP2):c.730T>G (p.Ser244Ala)
|
rs775600808
|
|
NM_002180.3(IGHMBP2):c.734A>C (p.Asn245Thr)
|
rs1555243999
|
|
NM_002180.3(IGHMBP2):c.734A>G (p.Asn245Ser)
|
rs1555243999
|
|
NM_002180.3(IGHMBP2):c.745G>A (p.Asp249Asn)
|
|
|
NM_002180.3(IGHMBP2):c.746A>G (p.Asp249Gly)
|
|
|
NM_002180.3(IGHMBP2):c.754G>A (p.Val252Met)
|
rs1284064613
|
|
NM_002180.3(IGHMBP2):c.772T>C (p.Cys258Arg)
|
rs1566430083
|
|
NM_002180.3(IGHMBP2):c.844G>A (p.Ala282Thr)
|
rs2154007219
|
|
NM_002180.3(IGHMBP2):c.847G>A (p.Val283Ile)
|
rs2154007221
|
|
NM_002180.3(IGHMBP2):c.884A>G (p.Asp295Gly)
|
rs759987473
|
|
NM_002180.3(IGHMBP2):c.887T>C (p.Ile296Thr)
|
rs375554721
|
|
NM_002180.3(IGHMBP2):c.893A>G (p.Lys298Arg)
|
rs763867470
|
|
NM_002180.3(IGHMBP2):c.894G>C (p.Lys298Asn)
|
|
|
NM_002180.3(IGHMBP2):c.912+4G>C
|
|
|
NM_002180.3(IGHMBP2):c.922A>C (p.Lys308Gln)
|
rs201177129
|
|
NM_002180.3(IGHMBP2):c.926A>T (p.Lys309Met)
|
|
|
NM_002180.3(IGHMBP2):c.927G>T (p.Lys309Asn)
|
rs1858724192
|
|
NM_002180.3(IGHMBP2):c.928A>T (p.Thr310Ser)
|
rs747287368
|
|
NM_002180.3(IGHMBP2):c.965A>C (p.Glu322Ala)
|
rs1858726463
|
|
NM_002180.3(IGHMBP2):c.998G>A (p.Arg333Lys)
|
rs759353094
|
|
NM_003680.4(YARS1):c.1005_1006insT (p.Leu336fs)
|
rs2148601348
|
|
NM_003680.4(YARS1):c.1005del (p.Lys335fs)
|
rs1653090321
|
|
NM_003680.4(YARS1):c.1010C>G (p.Ala337Gly)
|
|
|
NM_003680.4(YARS1):c.101G>A (p.Arg34Gln)
|
|
|
NM_003680.4(YARS1):c.1033T>G (p.Ser345Ala)
|
|
|
NM_003680.4(YARS1):c.1042+6G>A
|
rs1653088376
|
|
NM_003680.4(YARS1):c.1042A>G (p.Lys348Glu)
|
rs2148601296
|
|
NM_003680.4(YARS1):c.1048A>G (p.Met350Val)
|
rs1553122785
|
|
NM_003680.4(YARS1):c.1078C>G (p.Pro360Ala)
|
|
|
NM_003680.4(YARS1):c.1086G>C (p.Glu362Asp)
|
|
|
NM_003680.4(YARS1):c.1094del (p.Pro365fs)
|
rs1413975578
|
|
NM_003680.4(YARS1):c.1117G>A (p.Gly373Arg)
|
rs764584188
|
|
NM_003680.4(YARS1):c.1118_1135dup (p.Val378_Glu379insGlyLysIleIleThrVal)
|
|
|
NM_003680.4(YARS1):c.1124T>A (p.Ile375Asn)
|
|
|
NM_003680.4(YARS1):c.112del (p.Ile38fs)
|
rs771840678
|
|
NM_003680.4(YARS1):c.1138A>C (p.Lys380Gln)
|
rs1405248711
|
|
NM_003680.4(YARS1):c.1140+4C>G
|
|
|
NM_003680.4(YARS1):c.1165G>A (p.Val389Ile)
|
|
|
NM_003680.4(YARS1):c.1175T>C (p.Ile392Thr)
|
rs749411607
|
|
NM_003680.4(YARS1):c.1181T>G (p.Val394Gly)
|
rs2148599987
|
|
NM_003680.4(YARS1):c.1190C>T (p.Ala397Val)
|
|
|
NM_003680.4(YARS1):c.1195C>T (p.Pro399Ser)
|
|
|
NM_003680.4(YARS1):c.1198C>T (p.Arg400Trp)
|
rs1179946635
|
|
NM_003680.4(YARS1):c.1204G>A (p.Val402Met)
|
|
|
NM_003680.4(YARS1):c.1222C>T (p.Gln408Ter)
|
|
|
NM_003680.4(YARS1):c.122G>A (p.Gly41Glu)
|
rs1569778143
|
|
NM_003680.4(YARS1):c.1249G>A (p.Asp417Asn)
|
|
|
NM_003680.4(YARS1):c.1252A>G (p.Arg418Gly)
|
rs2148599905
|
|
NM_003680.4(YARS1):c.1255C>T (p.Leu419=)
|
|
|
NM_003680.4(YARS1):c.125C>T (p.Thr42Met)
|
|
|
NM_003680.4(YARS1):c.1261G>A (p.Val421Met)
|
|
|
NM_003680.4(YARS1):c.1276del (p.Asn425_Leu426insTer)
|
rs764028295
|
|
NM_003680.4(YARS1):c.1281dup (p.Pro428fs)
|
rs1653003533
|
|
NM_003680.4(YARS1):c.1285C>T (p.Gln429Ter)
|
|
|
NM_003680.4(YARS1):c.1298G>T (p.Gly433Val)
|
rs2148599873
|
|
NM_003680.4(YARS1):c.1324T>G (p.Cys442Gly)
|
|
|
NM_003680.4(YARS1):c.1328C>A (p.Ala443Asp)
|
|
|
NM_003680.4(YARS1):c.1330T>G (p.Ser444Ala)
|
rs2148599848
|
|
NM_003680.4(YARS1):c.1337A>T (p.Glu446Val)
|
|
|
NM_003680.4(YARS1):c.1349G>C (p.Arg450Pro)
|
rs147005844
|
|
NM_003680.4(YARS1):c.1349G>T (p.Arg450Leu)
|
|
|
NM_003680.4(YARS1):c.1353G>C (p.Gln451His)
|
|
|
NM_003680.4(YARS1):c.1361C>T (p.Pro454Leu)
|
rs1569705205
|
|
NM_003680.4(YARS1):c.1385C>G (p.Ala462Gly)
|
|
|
NM_003680.4(YARS1):c.1387C>G (p.Pro463Ala)
|
rs1230021901
|
|
NM_003680.4(YARS1):c.1396C>G (p.His466Asp)
|
|
|
NM_003680.4(YARS1):c.1400T>G (p.Val467Gly)
|
|
|
NM_003680.4(YARS1):c.140A>G (p.Lys47Arg)
|
|
|
NM_003680.4(YARS1):c.1418A>G (p.Glu473Gly)
|
rs770972459
|
|
NM_003680.4(YARS1):c.1433A>T (p.Asp478Val)
|
|
|
NM_003680.4(YARS1):c.1435GAG[1] (p.Glu480del)
|
|
|
NM_003680.4(YARS1):c.1439A>G (p.Glu480Gly)
|
|
|
NM_003680.4(YARS1):c.1451A>G (p.Lys484Arg)
|
|
|
NM_003680.4(YARS1):c.1476+2T>C
|
rs1553122620
|
|
NM_003680.4(YARS1):c.1480G>A (p.Asp494Asn)
|
rs367622240
|
|
NM_003680.4(YARS1):c.1487A>C (p.Lys496Thr)
|
rs768160751
|
|
NM_003680.4(YARS1):c.1507G>C (p.Ala503Pro)
|
|
|
NM_003680.4(YARS1):c.1507G>T (p.Ala503Ser)
|
rs778099655
|
|
NM_003680.4(YARS1):c.1514G>A (p.Trp505Ter)
|
rs1553122276
|
|
NM_003680.4(YARS1):c.1523C>A (p.Thr508Asn)
|
|
|
NM_003680.4(YARS1):c.1523C>T (p.Thr508Ile)
|
|
|
NM_003680.4(YARS1):c.1568A>G (p.Lys523Arg)
|
|
|
NM_003680.4(YARS1):c.1571G>C (p.Gly524Ala)
|
rs201687117
|
|
NM_003680.4(YARS1):c.1571G>T (p.Gly524Val)
|
rs201687117
|
|
NM_003680.4(YARS1):c.1574G>A (p.Gly525Glu)
|
rs774982567
|
|
NM_003680.4(YARS1):c.1577A>T (p.Asn526Ile)
|
rs771633110
|
|
NM_003680.4(YARS1):c.1579A>G (p.Ile527Val)
|
|
|
NM_003680.4(YARS1):c.161T>C (p.Val54Ala)
|
|
|
NM_003680.4(YARS1):c.167T>C (p.Met56Thr)
|
|
|
NM_003680.4(YARS1):c.177T>G (p.Ile59Met)
|
rs1240096439
|
|
NM_003680.4(YARS1):c.178G>A (p.Ala60Thr)
|
rs367649729
|
|
NM_003680.4(YARS1):c.17G>A (p.Ser6Asn)
|
rs751101041
|
|
NM_003680.4(YARS1):c.194_202del (p.Ala65_Cys67del)
|
rs2148616655
|
|
NM_003680.4(YARS1):c.205-2A>G
|
rs538137948
|
|
NM_003680.4(YARS1):c.206dup (p.Thr70fs)
|
|
|
NM_003680.4(YARS1):c.209C>G (p.Thr70Arg)
|
rs771657997
|
|
NM_003680.4(YARS1):c.214C>A (p.Leu72Met)
|
|
|
NM_003680.4(YARS1):c.232G>A (p.Ala78Thr)
|
rs778307213
|
|
NM_003680.4(YARS1):c.233C>G (p.Ala78Gly)
|
|
|
NM_003680.4(YARS1):c.241G>C (p.Asp81His)
|
rs587777891
|
|
NM_003680.4(YARS1):c.244A>G (p.Asn82Asp)
|
|
|
NM_003680.4(YARS1):c.248T>C (p.Met83Thr)
|
|
|
NM_003680.4(YARS1):c.265C>T (p.Leu89Phe)
|
rs2148616548
|
|
NM_003680.4(YARS1):c.271G>C (p.Glu91Gln)
|
|
|
NM_003680.4(YARS1):c.290A>G (p.Tyr97Cys)
|
rs1360212575
|
|
NM_003680.4(YARS1):c.294G>C (p.Glu98Asp)
|
rs146442827
|
|
NM_003680.4(YARS1):c.326G>A (p.Gly109Asp)
|
rs1638562641
|
|
NM_003680.4(YARS1):c.331C>T (p.Pro111Ser)
|
|
|
NM_003680.4(YARS1):c.347A>G (p.Lys116Arg)
|
rs148823175
|
|
NM_003680.4(YARS1):c.380+4A>G
|
rs1638561575
|
|
NM_003680.4(YARS1):c.386A>G (p.Tyr129Cys)
|
|
|
NM_003680.4(YARS1):c.389C>T (p.Thr130Ile)
|
|
|
NM_003680.4(YARS1):c.395A>T (p.Asp132Val)
|
rs2148614994
|
|
NM_003680.4(YARS1):c.397G>A (p.Val133Met)
|
|
|
NM_003680.4(YARS1):c.40A>T (p.Ile14Phe)
|
rs763337272
|
|
NM_003680.4(YARS1):c.416T>C (p.Val139Ala)
|
|
|
NM_003680.4(YARS1):c.41T>C (p.Ile14Thr)
|
rs1553127237
|
|
NM_003680.4(YARS1):c.424C>A (p.Gln142Lys)
|
rs1470898248
|
|
NM_003680.4(YARS1):c.424C>T (p.Gln142Ter)
|
|
|
NM_003680.4(YARS1):c.425A>G (p.Gln142Arg)
|
rs1638471229
|
|
NM_003680.4(YARS1):c.43A>G (p.Thr15Ala)
|
|
|
NM_003680.4(YARS1):c.440A>C (p.Lys147Thr)
|
rs769290451
|
|
NM_003680.4(YARS1):c.44C>A (p.Thr15Asn)
|
rs1638772500
|
|
NM_003680.4(YARS1):c.451G>A (p.Glu151Lys)
|
rs2148614952
|
|
NM_003680.4(YARS1):c.457G>A (p.Val153Ile)
|
|
|
NM_003680.4(YARS1):c.466G>A (p.Val156Met)
|
|
|
NM_003680.4(YARS1):c.488G>T (p.Gly163Val)
|
rs1638469949
|
|
NM_003680.4(YARS1):c.497A>G (p.Tyr166Cys)
|
rs2148614924
|
|
NM_003680.4(YARS1):c.501del (p.Gly168fs)
|
|
|
NM_003680.4(YARS1):c.511-3C>G
|
|
|
NM_003680.4(YARS1):c.523G>T (p.Glu175Ter)
|
rs1553124472
|
|
NM_003680.4(YARS1):c.542C>A (p.Ala181Asp)
|
rs1191925938
|
|
NM_003680.4(YARS1):c.560A>G (p.Asp187Gly)
|
rs1653653041
|
|
NM_003680.4(YARS1):c.564G>C (p.Gln188His)
|
|
|
NM_003680.4(YARS1):c.57+1G>T
|
|
|
NM_003680.4(YARS1):c.57+4A>T
|
rs2148620986
|
|
NM_003680.4(YARS1):c.58-4A>G
|
|
|
NM_003680.4(YARS1):c.587A>G (p.Glu196Gly)
|
rs2148610315
|
|
NM_003680.4(YARS1):c.591+3G>C
|
rs2148610311
|
|
NM_003680.4(YARS1):c.591+4_591+7del
|
|
|
NM_003680.4(YARS1):c.602C>G (p.Ala201Gly)
|
rs1380442148
|
|
NM_003680.4(YARS1):c.619C>T (p.Arg207Trp)
|
rs1653403342
|
|
NM_003680.4(YARS1):c.622G>A (p.Val208Ile)
|
|
|
NM_003680.4(YARS1):c.631A>T (p.Met211Leu)
|
rs1426757940
|
|
NM_003680.4(YARS1):c.640A>G (p.Met214Val)
|
|
|
NM_003680.4(YARS1):c.642G>C (p.Met214Ile)
|
|
|
NM_003680.4(YARS1):c.644T>C (p.Val215Ala)
|
rs2148606461
|
|
NM_003680.4(YARS1):c.662G>A (p.Ser221Asn)
|
rs1653401735
|
|
NM_003680.4(YARS1):c.670A>G (p.Ser224Gly)
|
|
|
NM_003680.4(YARS1):c.689C>A (p.Ser230Tyr)
|
rs766904685
|
|
NM_003680.4(YARS1):c.692A>C (p.Lys231Thr)
|
rs2148604150
|
|
NM_003680.4(YARS1):c.695T>C (p.Ile232Thr)
|
|
|
NM_003680.4(YARS1):c.695T>G (p.Ile232Ser)
|
rs1553123310
|
|
NM_003680.4(YARS1):c.700C>G (p.Leu234Val)
|
rs1653252713
|
|
NM_003680.4(YARS1):c.710G>A (p.Arg237Gln)
|
|
|
NM_003680.4(YARS1):c.715G>A (p.Glu239Lys)
|
|
|
NM_003680.4(YARS1):c.718_726del (p.Asp240_Lys242del)
|
|
|
NM_003680.4(YARS1):c.727A>G (p.Lys243Glu)
|
|
|
NM_003680.4(YARS1):c.736A>T (p.Lys246Ter)
|
rs2148604127
|
|
NM_003680.4(YARS1):c.737A>G (p.Lys246Arg)
|
|
|
NM_003680.4(YARS1):c.739_740delinsGC (p.Lys247Ala)
|
rs1553123307
|
|
NM_003680.4(YARS1):c.749G>A (p.Cys250Tyr)
|
|
|
NM_003680.4(YARS1):c.749G>C (p.Cys250Ser)
|
|
|
NM_003680.4(YARS1):c.76A>G (p.Lys26Glu)
|
|
|
NM_003680.4(YARS1):c.773A>G (p.Asn258Ser)
|
|
|
NM_003680.4(YARS1):c.779T>C (p.Val260Ala)
|
|
|
NM_003680.4(YARS1):c.799G>A (p.Val267Ile)
|
rs1230847972
|
|
NM_003680.4(YARS1):c.799G>C (p.Val267Leu)
|
rs1230847972
|
|
NM_003680.4(YARS1):c.802C>T (p.Leu268Phe)
|
|
|
NM_003680.4(YARS1):c.808C>G (p.Pro270Ala)
|
|
|
NM_003680.4(YARS1):c.815A>G (p.Lys272Arg)
|
|
|
NM_003680.4(YARS1):c.820G>A (p.Glu274Lys)
|
rs758897498
|
|
NM_003680.4(YARS1):c.820G>C (p.Glu274Gln)
|
|
|
NM_003680.4(YARS1):c.821-3T>C
|
rs757673905
|
|
NM_003680.4(YARS1):c.833T>C (p.Leu278Pro)
|
|
|
NM_003680.4(YARS1):c.835C>T (p.Arg279Ter)
|
rs767579114
|
|
NM_003680.4(YARS1):c.836G>A (p.Arg279Gln)
|
|
|
NM_003680.4(YARS1):c.839A>G (p.Asp280Gly)
|
|
|
NM_003680.4(YARS1):c.854del (p.Gly285fs)
|
|
|
NM_003680.4(YARS1):c.857A>G (p.Asn286Ser)
|
rs761748976
|
|
NM_003680.4(YARS1):c.88A>T (p.Ile30Leu)
|
|
|
NM_003680.4(YARS1):c.899C>T (p.Ala300Val)
|
rs1653226667
|
|
NM_003680.4(YARS1):c.910G>T (p.Val304Leu)
|
rs2148601486
|
|
NM_003680.4(YARS1):c.92T>C (p.Leu31Pro)
|
rs781102946
|
|
NM_003680.4(YARS1):c.970A>G (p.Ile324Val)
|
|
|
NM_003680.4(YARS1):c.973C>T (p.Arg325Trp)
|
|
|
NM_003680.4(YARS1):c.986A>G (p.Asn329Ser)
|
|
|
NM_003680.4(YARS1):c.992C>G (p.Pro331Arg)
|
|
|
NM_004637.6(RAB7A):c.148G>A (p.Val50Met)
|
rs1933610846
|
|
NM_004637.6(RAB7A):c.151A>G (p.Met51Val)
|
|
|
NM_004637.6(RAB7A):c.180+4A>T
|
rs1933611370
|
|
NM_004637.6(RAB7A):c.181-3C>T
|
rs1411160897
|
|
NM_004637.6(RAB7A):c.311A>G (p.Asp104Gly)
|
|
|
NM_004637.6(RAB7A):c.351C>G (p.Asn117Lys)
|
|
|
NM_004637.6(RAB7A):c.377A>G (p.Lys126Arg)
|
rs1933806941
|
|
NM_004637.6(RAB7A):c.403G>A (p.Ala135Thr)
|
rs368804888
|
|
NM_004637.6(RAB7A):c.421G>A (p.Ala141Thr)
|
|
|
NM_004637.6(RAB7A):c.434G>A (p.Ser145Asn)
|
rs2107616079
|
|
NM_004637.6(RAB7A):c.448C>A (p.Pro150Thr)
|
rs1320514833
|
|
NM_004637.6(RAB7A):c.464G>A (p.Ser155Asn)
|
|
|
NM_004637.6(RAB7A):c.467C>G (p.Ala156Gly)
|
rs2107616088
|
|
NM_004637.6(RAB7A):c.489G>C (p.Glu163Asp)
|
|
|
NM_004637.6(RAB7A):c.528+2dup
|
|
|
NM_004637.6(RAB7A):c.544C>A (p.Leu182Met)
|
|
|
NM_004637.6(RAB7A):c.570C>G (p.Ile190Met)
|
|
|
NM_004637.6(RAB7A):c.572A>G (p.Lys191Arg)
|
rs2107618433
|
|
NM_004637.6(RAB7A):c.589C>T (p.Arg197Trp)
|
rs745507763
|
|
NM_004637.6(RAB7A):c.592G>A (p.Ala198Thr)
|
|
|
NM_004637.6(RAB7A):c.592G>T (p.Ala198Ser)
|
rs748832566
|
|
NM_004637.6(RAB7A):c.605C>G (p.Ala202Gly)
|
rs2107618449
|
|
NM_004637.6(RAB7A):c.74T>C (p.Met25Thr)
|
|
|
NM_004637.6(RAB7A):c.89A>G (p.Asn30Ser)
|
|
|
NM_004990.4(MARS1):c.1013T>C (p.Ile338Thr)
|
|
|
NM_004990.4(MARS1):c.1016T>C (p.Ile339Thr)
|
|
|
NM_004990.4(MARS1):c.1019A>G (p.His340Arg)
|
|
|
NM_004990.4(MARS1):c.1024G>A (p.Asp342Asn)
|
|
|
NM_004990.4(MARS1):c.1027A>G (p.Ile343Val)
|
|
|
NM_004990.4(MARS1):c.1027_1028del (p.Ile343fs)
|
|
|
NM_004990.4(MARS1):c.1034G>A (p.Arg345His)
|
|
|
NM_004990.4(MARS1):c.1043A>T (p.Asn348Ile)
|
|
|
NM_004990.4(MARS1):c.1052T>C (p.Phe351Ser)
|
rs2140017178
|
|
NM_004990.4(MARS1):c.109+7GTGCTG[3]
|
rs763091763
|
|
NM_004990.4(MARS1):c.1091+3A>G
|
rs2140017230
|
|
NM_004990.4(MARS1):c.1092-3C>T
|
|
|
NM_004990.4(MARS1):c.1097C>G (p.Thr366Ser)
|
|
|
NM_004990.4(MARS1):c.109G>A (p.Asp37Asn)
|
|
|
NM_004990.4(MARS1):c.1102G>T (p.Asp368Tyr)
|
|
|
NM_004990.4(MARS1):c.1126C>T (p.Arg376Ter)
|
|
|
NM_004990.4(MARS1):c.1145A>C (p.Asp382Ala)
|
|
|
NM_004990.4(MARS1):c.1151T>C (p.Val384Ala)
|
|
|
NM_004990.4(MARS1):c.115G>A (p.Val39Met)
|
rs564742568
|
|
NM_004990.4(MARS1):c.115G>C (p.Val39Leu)
|
|
|
NM_004990.4(MARS1):c.1165T>C (p.Cys389Arg)
|
|
|
NM_004990.4(MARS1):c.1171C>G (p.His391Asp)
|
|
|
NM_004990.4(MARS1):c.1195C>T (p.Arg399Cys)
|
|
|
NM_004990.4(MARS1):c.119del (p.Val40fs)
|
|
|
NM_004990.4(MARS1):c.1210G>A (p.Val404Met)
|
rs370559405
|
|
NM_004990.4(MARS1):c.1229A>G (p.Tyr410Cys)
|
|
|
NM_004990.4(MARS1):c.1244G>T (p.Gly415Val)
|
rs1594821386
|
|
NM_004990.4(MARS1):c.1270C>G (p.Leu424Val)
|
rs2140019644
|
|
NM_004990.4(MARS1):c.1271T>C (p.Leu424Pro)
|
|
|
NM_004990.4(MARS1):c.1273A>G (p.Ile425Val)
|
|
|
NM_004990.4(MARS1):c.1285G>A (p.Glu429Lys)
|
|
|
NM_004990.4(MARS1):c.1293+5G>A
|
rs1876872609
|
|
NM_004990.4(MARS1):c.1294-13T>C
|
|
|
NM_004990.4(MARS1):c.1294-5C>G
|
rs149946100
|
|
NM_004990.4(MARS1):c.1321T>C (p.Cys441Arg)
|
|
|
NM_004990.4(MARS1):c.1331T>C (p.Val444Ala)
|
rs780028144
|
|
NM_004990.4(MARS1):c.1334A>G (p.Gln445Arg)
|
|
|
NM_004990.4(MARS1):c.1369-6_1369-2del
|
|
|
NM_004990.4(MARS1):c.137C>G (p.Pro46Arg)
|
|
|
NM_004990.4(MARS1):c.1392G>T (p.Trp464Cys)
|
|
|
NM_004990.4(MARS1):c.13G>A (p.Val5Met)
|
rs587777227
|
|
NM_004990.4(MARS1):c.1436A>G (p.Gln479Arg)
|
|
|
NM_004990.4(MARS1):c.1450T>C (p.Ser484Pro)
|
|
|
NM_004990.4(MARS1):c.1460G>A (p.Arg487Gln)
|
|
|
NM_004990.4(MARS1):c.1480T>C (p.Cys494Arg)
|
|
|
NM_004990.4(MARS1):c.1489C>T (p.Arg497Ter)
|
|
|
NM_004990.4(MARS1):c.148G>A (p.Val50Ile)
|
|
|
NM_004990.4(MARS1):c.1490G>A (p.Arg497Gln)
|
|
|
NM_004990.4(MARS1):c.1500del (p.Lys500fs)
|
rs754505518
|
|
NM_004990.4(MARS1):c.1514dup (p.Pro506fs)
|
rs1877536163
|
|
NM_004990.4(MARS1):c.1518del (p.Pro506_Leu507insTer)
|
rs2140033925
|
|
NM_004990.4(MARS1):c.1531_1539+14del
|
|
|
NM_004990.4(MARS1):c.1534del (p.Asp512fs)
|
|
|
NM_004990.4(MARS1):c.1535A>G (p.Asp512Gly)
|
rs567401794
|
|
NM_004990.4(MARS1):c.1539G>T (p.Lys513Asn)
|
|
|
NM_004990.4(MARS1):c.1595A>G (p.Tyr532Cys)
|
|
|
NM_004990.4(MARS1):c.1598C>G (p.Thr533Arg)
|
|
|
NM_004990.4(MARS1):c.1635+4A>G
|
|
|
NM_004990.4(MARS1):c.163A>G (p.Ser55Gly)
|
rs1875708945
|
|
NM_004990.4(MARS1):c.165C>G (p.Ser55Arg)
|
|
|
NM_004990.4(MARS1):c.1662_1667del (p.Lys554_Asp555del)
|
rs1555168270
|
|
NM_004990.4(MARS1):c.1705C>G (p.Leu569Val)
|
|
|
NM_004990.4(MARS1):c.1709_1710delinsTT (p.Gly570Val)
|
|
|
NM_004990.4(MARS1):c.1721A>C (p.Asn574Thr)
|
|
|
NM_004990.4(MARS1):c.1727C>G (p.Thr576Ser)
|
rs1357906437
|
|
NM_004990.4(MARS1):c.1754-1G>A
|
rs1594833474
|
|
NM_004990.4(MARS1):c.1754-1G>C
|
rs1594833474
|
|
NM_004990.4(MARS1):c.1754A>C (p.Glu585Ala)
|
|
|
NM_004990.4(MARS1):c.1802G>C (p.Gly601Ala)
|
rs2140034963
|
|
NM_004990.4(MARS1):c.1809T>A (p.Phe603Leu)
|
rs2140034972
|
|
NM_004990.4(MARS1):c.1829C>T (p.Thr610Met)
|
|
|
NM_004990.4(MARS1):c.1853G>A (p.Arg618His)
|
|
|
NM_004990.4(MARS1):c.1853G>T (p.Arg618Leu)
|
|
|
NM_004990.4(MARS1):c.1859_1862del (p.Tyr620fs)
|
|
|
NM_004990.4(MARS1):c.1859_1862dup (p.Leu622fs)
|
|
|
NM_004990.4(MARS1):c.1870A>G (p.Ile624Val)
|
|
|
NM_004990.4(MARS1):c.1874G>A (p.Arg625Gln)
|
|
|
NM_004990.4(MARS1):c.1874G>T (p.Arg625Leu)
|
|
|
NM_004990.4(MARS1):c.1892G>T (p.Ser631Ile)
|
|
|
NM_004990.4(MARS1):c.1901C>T (p.Ser634Phe)
|
rs769611828
|
|
NM_004990.4(MARS1):c.1906A>G (p.Thr636Ala)
|
|
|
NM_004990.4(MARS1):c.1907C>T (p.Thr636Met)
|
|
|
NM_004990.4(MARS1):c.1910dup (p.Asp637fs)
|
|
|
NM_004990.4(MARS1):c.1925A>G (p.Asn642Ser)
|
|
|
NM_004990.4(MARS1):c.1932_1933insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAAGAATAATTCT (p.Glu645delinsPhePhePhePhePhePheXaaXaaXaaXaaTer)
|
|
|
NM_004990.4(MARS1):c.1940T>C (p.Leu647Pro)
|
|
|
NM_004990.4(MARS1):c.1967+15G>T
|
|
|
NM_004990.4(MARS1):c.1967+3A>G
|
rs183042263
|
|
NM_004990.4(MARS1):c.1970C>G (p.Ala657Gly)
|
rs1594835469
|
|
NM_004990.4(MARS1):c.1979T>G (p.Phe660Cys)
|
rs2140036938
|
|
NM_004990.4(MARS1):c.200+4A>G
|
rs774241581
|
|
NM_004990.4(MARS1):c.200G>A (p.Arg67Gln)
|
|
|
NM_004990.4(MARS1):c.201-14C>G
|
|
|
NM_004990.4(MARS1):c.2017G>A (p.Val673Met)
|
|
|
NM_004990.4(MARS1):c.2017G>T (p.Val673Leu)
|
rs145672326
|
|
NM_004990.4(MARS1):c.2033A>G (p.Asp678Gly)
|
rs1205620243
|
|
NM_004990.4(MARS1):c.2039G>A (p.Arg680His)
|
|
|
NM_004990.4(MARS1):c.2071C>T (p.His691Tyr)
|
|
|
NM_004990.4(MARS1):c.2077C>T (p.His693Tyr)
|
|
|
NM_004990.4(MARS1):c.2099+6dup
|
|
|
NM_004990.4(MARS1):c.2100-1G>A
|
|
|
NM_004990.4(MARS1):c.2111C>G (p.Ala704Gly)
|
|
|
NM_004990.4(MARS1):c.2114dup (p.Leu705fs)
|
rs777324495
|
|
NM_004990.4(MARS1):c.2117G>A (p.Arg706His)
|
|
|
NM_004990.4(MARS1):c.212del (p.Leu71fs)
|
rs751080704
|
|
NM_004990.4(MARS1):c.2131A>G (p.Ile711Val)
|
|
|
NM_004990.4(MARS1):c.2134T>C (p.Ser712Pro)
|
|
|
NM_004990.4(MARS1):c.2149C>A (p.Gln717Lys)
|
|
|
NM_004990.4(MARS1):c.2150A>G (p.Gln717Arg)
|
|
|
NM_004990.4(MARS1):c.2155A>G (p.Ile719Val)
|
|
|
NM_004990.4(MARS1):c.2161G>A (p.Val721Met)
|
|
|
NM_004990.4(MARS1):c.2204+3A>C
|
rs752787448
|
|
NM_004990.4(MARS1):c.2204+3A>G
|
|
|
NM_004990.4(MARS1):c.2204+4_2204+7del
|
rs1327486572
|
|
NM_004990.4(MARS1):c.2204+6T>C
|
|
|
NM_004990.4(MARS1):c.2204+9G>A
|
|
|
NM_004990.4(MARS1):c.2209C>T (p.Arg737Trp)
|
rs139536122
|
|
NM_004990.4(MARS1):c.2224A>G (p.Thr742Ala)
|
rs2140037579
|
|
NM_004990.4(MARS1):c.2227G>A (p.Gly743Ser)
|
|
|
NM_004990.4(MARS1):c.2241T>G (p.Asn747Lys)
|
|
|
NM_004990.4(MARS1):c.2244A>G (p.Ile748Met)
|
|
|
NM_004990.4(MARS1):c.2246C>T (p.Ala749Val)
|
|
|
NM_004990.4(MARS1):c.2264T>C (p.Met755Thr)
|
|
|
NM_004990.4(MARS1):c.227A>C (p.Glu76Ala)
|
|
|
NM_004990.4(MARS1):c.2280G>A (p.Met760Ile)
|
rs1594836361
|
|
NM_004990.4(MARS1):c.2286G>A (p.Thr762=)
|
|
|
NM_004990.4(MARS1):c.2291G>C (p.Ser764Thr)
|
rs1565652335
|
|
NM_004990.4(MARS1):c.2302C>G (p.Gln768Glu)
|
|
|
NM_004990.4(MARS1):c.2314C>T (p.Gln772Ter)
|
rs1248367484
|
|
NM_004990.4(MARS1):c.2323C>G (p.Pro775Ala)
|
|
|
NM_004990.4(MARS1):c.2333G>A (p.Cys778Tyr)
|
|
|
NM_004990.4(MARS1):c.2336G>C (p.Ser779Thr)
|
|
|
NM_004990.4(MARS1):c.2356C>T (p.Leu786=)
|
|
|
NM_004990.4(MARS1):c.2380C>A (p.Gln794Lys)
|
|
|
NM_004990.4(MARS1):c.2391+1G>C
|
|
|
NM_004990.4(MARS1):c.2422G>T (p.Asp808Tyr)
|
|
|
NM_004990.4(MARS1):c.2438T>A (p.Leu813Ter)
|
|
|
NM_004990.4(MARS1):c.2446C>G (p.Arg816Gly)
|
rs368028253
|
|
NM_004990.4(MARS1):c.2458G>A (p.Gly820Ser)
|
|
|
NM_004990.4(MARS1):c.2462A>G (p.Gln821Arg)
|
|
|
NM_004990.4(MARS1):c.2489T>C (p.Val830Ala)
|
|
|
NM_004990.4(MARS1):c.2504C>A (p.Thr835Lys)
|
|
|
NM_004990.4(MARS1):c.2504del (p.Thr835fs)
|
|
|
NM_004990.4(MARS1):c.2507C>G (p.Thr836Arg)
|
rs1159370358
|
|
NM_004990.4(MARS1):c.2514G>C (p.Lys838Asn)
|
|
|
NM_004990.4(MARS1):c.2527C>A (p.Gln843Lys)
|
|
|
NM_004990.4(MARS1):c.2540A>C (p.Asp847Ala)
|
|
|
NM_004990.4(MARS1):c.2549C>T (p.Thr850Ile)
|
|
|
NM_004990.4(MARS1):c.2556+1G>A
|
rs1877828714
|
|
NM_004990.4(MARS1):c.2556+3A>G
|
|
|
NM_004990.4(MARS1):c.2556+3A>T
|
|
|
NM_004990.4(MARS1):c.2556+4T>A
|
|
|
NM_004990.4(MARS1):c.2556+5G>A
|
|
|
NM_004990.4(MARS1):c.2590G>A (p.Ala864Thr)
|
|
|
NM_004990.4(MARS1):c.2607del (p.Ala870fs)
|
|
|
NM_004990.4(MARS1):c.2621C>G (p.Ala874Gly)
|
|
|
NM_004990.4(MARS1):c.265G>A (p.Ala89Thr)
|
|
|
NM_004990.4(MARS1):c.2662G>A (p.Gly888Arg)
|
|
|
NM_004990.4(MARS1):c.2673_2674insTTC (p.Pro891_Glu892insPhe)
|
|
|
NM_004990.4(MARS1):c.2677G>A (p.Ala893Thr)
|
|
|
NM_004990.4(MARS1):c.2678C>T (p.Ala893Val)
|
rs1027516483
|
|
NM_004990.4(MARS1):c.2685A>T (p.Lys895Asn)
|
rs1181373475
|
|
NM_004990.4(MARS1):c.2685dup (p.Gly896fs)
|
|
|
NM_004990.4(MARS1):c.2686G>C (p.Gly896Arg)
|
|
|
NM_004990.4(MARS1):c.2691G>C (p.Lys897Asn)
|
|
|
NM_004990.4(MARS1):c.2701_*3del (p.Ter901del)
|
rs1409128703
|
|
NM_004990.4(MARS1):c.279+5G>A
|
|
|
NM_004990.4(MARS1):c.280C>T (p.Pro94Ser)
|
|
|
NM_004990.4(MARS1):c.295G>T (p.Ala99Ser)
|
|
|
NM_004990.4(MARS1):c.311T>A (p.Val104Glu)
|
|
|
NM_004990.4(MARS1):c.31G>C (p.Gly11Arg)
|
|
|
NM_004990.4(MARS1):c.337G>T (p.Val113Phe)
|
|
|
NM_004990.4(MARS1):c.343G>A (p.Gly115Ser)
|
rs2139997870
|
|
NM_004990.4(MARS1):c.349G>A (p.Val117Met)
|
|
|
NM_004990.4(MARS1):c.371T>C (p.Ile124Thr)
|
|
|
NM_004990.4(MARS1):c.379A>G (p.Ser127Gly)
|
rs1046282755
|
|
NM_004990.4(MARS1):c.389G>C (p.Arg130Pro)
|
|
|
NM_004990.4(MARS1):c.38T>C (p.Leu13Ser)
|
rs1875583589
|
|
NM_004990.4(MARS1):c.397T>G (p.Cys133Gly)
|
|
|
NM_004990.4(MARS1):c.398G>A (p.Cys133Tyr)
|
rs2139998020
|
|
NM_004990.4(MARS1):c.414+1G>T
|
|
|
NM_004990.4(MARS1):c.415-5C>G
|
rs747351446
|
|
NM_004990.4(MARS1):c.425C>G (p.Ser142Cys)
|
|
|
NM_004990.4(MARS1):c.427C>G (p.Leu143Val)
|
|
|
NM_004990.4(MARS1):c.433G>A (p.Asp145Asn)
|
|
|
NM_004990.4(MARS1):c.437T>C (p.Ile146Thr)
|
|
|
NM_004990.4(MARS1):c.460C>A (p.Pro154Thr)
|
|
|
NM_004990.4(MARS1):c.478G>T (p.Ala160Ser)
|
|
|
NM_004990.4(MARS1):c.509A>G (p.His170Arg)
|
|
|
NM_004990.4(MARS1):c.511A>G (p.Ser171Gly)
|
rs142331178
|
|
NM_004990.4(MARS1):c.520C>T (p.Gln174Ter)
|
|
|
NM_004990.4(MARS1):c.533C>T (p.Thr178Ile)
|
|
|
NM_004990.4(MARS1):c.542C>T (p.Pro181Leu)
|
|
|
NM_004990.4(MARS1):c.564T>G (p.Thr188=)
|
|
|
NM_004990.4(MARS1):c.577C>G (p.Gln193Glu)
|
|
|
NM_004990.4(MARS1):c.580G>T (p.Gly194Cys)
|
|
|
NM_004990.4(MARS1):c.590C>T (p.Ala197Val)
|
|
|
NM_004990.4(MARS1):c.596G>A (p.Arg199Gln)
|
|
|
NM_004990.4(MARS1):c.5G>C (p.Arg2Thr)
|
|
|
NM_004990.4(MARS1):c.616C>T (p.Pro206Ser)
|
rs1565637642
|
|
NM_004990.4(MARS1):c.636G>C (p.Glu212Asp)
|
|
|
NM_004990.4(MARS1):c.652A>G (p.Asn218Asp)
|
rs1875839232
|
|
NM_004990.4(MARS1):c.659del (p.Pro220fs)
|
rs777370844
|
|
NM_004990.4(MARS1):c.667G>A (p.Glu223Lys)
|
rs1249955185
|
|
NM_004990.4(MARS1):c.673_696dup (p.Glu232_Ile233insLeuAlaThrLeuSerGluGluGlu)
|
|
|
NM_004990.4(MARS1):c.67C>G (p.Arg23Gly)
|
rs2139993470
|
|
NM_004990.4(MARS1):c.683T>C (p.Leu228Pro)
|
|
|
NM_004990.4(MARS1):c.688GAG[2] (p.Glu232del)
|
|
|
NM_004990.4(MARS1):c.68G>A (p.Arg23Gln)
|
rs1247809884
|
|
NM_004990.4(MARS1):c.692A>T (p.Glu231Val)
|
rs755863042
|
|
NM_004990.4(MARS1):c.703A>G (p.Met235Val)
|
|
|
NM_004990.4(MARS1):c.709G>A (p.Val237Ile)
|
|
|
NM_004990.4(MARS1):c.712dup (p.Thr238fs)
|
|
|
NM_004990.4(MARS1):c.71G>C (p.Gly24Ala)
|
|
|
NM_004990.4(MARS1):c.73A>G (p.Arg25Gly)
|
|
|
NM_004990.4(MARS1):c.743C>T (p.Pro248Leu)
|
|
|
NM_004990.4(MARS1):c.764A>G (p.Asn255Ser)
|
|
|
NM_004990.4(MARS1):c.770+18_770+19del
|
|
|
NM_004990.4(MARS1):c.789A>C (p.Glu263Asp)
|
|
|
NM_004990.4(MARS1):c.804C>G (p.Ile268Met)
|
rs1421551773
|
|
NM_004990.4(MARS1):c.86T>C (p.Leu29Pro)
|
|
|
NM_004990.4(MARS1):c.874G>C (p.Asp292His)
|
|
|
NM_004990.4(MARS1):c.875A>G (p.Asp292Gly)
|
|
|
NM_004990.4(MARS1):c.886A>T (p.Arg296Trp)
|
|
|
NM_004990.4(MARS1):c.887+5A>G
|
rs1565643835
|
|
NM_004990.4(MARS1):c.890A>C (p.Tyr297Ser)
|
rs1876748489
|
|
NM_004990.4(MARS1):c.895C>T (p.Arg299Cys)
|
|
|
NM_004990.4(MARS1):c.896G>A (p.Arg299His)
|
|
|
NM_004990.4(MARS1):c.89T>G (p.Ile30Ser)
|
|
|
NM_004990.4(MARS1):c.902G>A (p.Arg301His)
|
|
|
NM_004990.4(MARS1):c.906_919delinsCTC (p.Gln302fs)
|
rs1555166943
|
|
NM_004990.4(MARS1):c.907T>C (p.Trp303Arg)
|
|
|
NM_004990.4(MARS1):c.965C>T (p.Ala322Val)
|
|
|
NM_004990.4(MARS1):c.971A>G (p.Glu324Gly)
|
|
|
NM_004990.4(MARS1):c.986C>T (p.Pro329Leu)
|
rs145260922
|
|
NM_004990.4(MARS1):c.989A>C (p.Gln330Pro)
|
rs747834192
|
|
NM_004990.4(MARS1):c.995T>C (p.Ile332Thr)
|
|
|
NM_004990.4(MARS1):c.996C>G (p.Ile332Met)
|
|
|
NM_005391.5(PDK3):c.1028A>C (p.Lys343Thr)
|
rs2148203320
|
|
NM_005391.5(PDK3):c.1077+2T>G
|
|
|
NM_005391.5(PDK3):c.1079C>T (p.Ala360Val)
|
rs1569228203
|
|
NM_005391.5(PDK3):c.1087dup (p.Ser363fs)
|
rs1569228214
|
|
NM_005391.5(PDK3):c.1097T>G (p.Phe366Cys)
|
rs1922715042
|
|
NM_005391.5(PDK3):c.1106T>C (p.Leu369Pro)
|
rs1922715462
|
|
NM_005391.5(PDK3):c.1159G>A (p.Asp387Asn)
|
|
|
NM_005391.5(PDK3):c.1193A>G (p.Asp398Gly)
|
|
|
NM_005391.5(PDK3):c.1202A>G (p.Lys401Arg)
|
rs371788046
|
|
NM_005391.5(PDK3):c.1213A>G (p.Lys405Glu)
|
|
|
NM_005391.5(PDK3):c.1217del (p.Gln406fs)
|
|
|
NM_005391.5(PDK3):c.1218dup (p.Ter407ValextTer?)
|
rs2148204361
|
|
NM_005391.5(PDK3):c.132_134del (p.Ser45del)
|
|
|
NM_005391.5(PDK3):c.137A>G (p.Tyr46Cys)
|
rs2148188298
|
|
NM_005391.5(PDK3):c.13C>T (p.Arg5Trp)
|
rs1940054079
|
|
NM_005391.5(PDK3):c.149_158dup (p.Pro54fs)
|
|
|
NM_005391.5(PDK3):c.18G>C (p.Trp6Cys)
|
rs2148176546
|
|
NM_005391.5(PDK3):c.217_226del (p.Asn73fs)
|
|
|
NM_005391.5(PDK3):c.220C>T (p.Arg74Cys)
|
|
|
NM_005391.5(PDK3):c.221G>A (p.Arg74His)
|
|
|
NM_005391.5(PDK3):c.223C>A (p.Pro75Thr)
|
rs2148188335
|
|
NM_005391.5(PDK3):c.23T>C (p.Leu8Pro)
|
|
|
NM_005391.5(PDK3):c.248+3A>G
|
|
|
NM_005391.5(PDK3):c.293G>A (p.Ser98Asn)
|
|
|
NM_005391.5(PDK3):c.302A>G (p.Asp101Gly)
|
|
|
NM_005391.5(PDK3):c.308A>G (p.Gln103Arg)
|
rs2148190126
|
|
NM_005391.5(PDK3):c.316G>A (p.Asp106Asn)
|
|
|
NM_005391.5(PDK3):c.321-3C>T
|
|
|
NM_005391.5(PDK3):c.335T>C (p.Leu112Pro)
|
rs2148191720
|
|
NM_005391.5(PDK3):c.340A>G (p.Lys114Glu)
|
|
|
NM_005391.5(PDK3):c.355C>T (p.His119Tyr)
|
|
|
NM_005391.5(PDK3):c.382C>A (p.Gln128Lys)
|
|
|
NM_005391.5(PDK3):c.382C>G (p.Gln128Glu)
|
|
|
NM_005391.5(PDK3):c.392T>C (p.Ile131Thr)
|
|
|
NM_005391.5(PDK3):c.434C>G (p.Thr145Ser)
|
|
|
NM_005391.5(PDK3):c.472C>G (p.Arg158Gly)
|
|
|
NM_005391.5(PDK3):c.485G>A (p.Arg162His)
|
rs867468579
|
|
NM_005391.5(PDK3):c.49G>C (p.Glu17Gln)
|
rs2148176569
|
|
NM_005391.5(PDK3):c.505+3A>T
|
rs1921912997
|
|
NM_005391.5(PDK3):c.577G>C (p.Val193Leu)
|
rs764909872
|
|
NM_005391.5(PDK3):c.596A>G (p.Asp199Gly)
|
|
|
NM_005391.5(PDK3):c.597del (p.Asp199fs)
|
rs1569225940
|
|
NM_005391.5(PDK3):c.608C>G (p.Thr203Arg)
|
rs1555949588
|
|
NM_005391.5(PDK3):c.674-5T>G
|
rs2148201118
|
|
NM_005391.5(PDK3):c.707A>G (p.Tyr236Cys)
|
rs2148201163
|
|
NM_005391.5(PDK3):c.86T>A (p.Ile29Asn)
|
|
|
NM_005391.5(PDK3):c.895C>T (p.Arg299Cys)
|
|
|
NM_005391.5(PDK3):c.896G>A (p.Arg299His)
|
|
|
NM_005391.5(PDK3):c.940G>T (p.Glu314Ter)
|
rs1922567942
|
|
NM_005391.5(PDK3):c.974G>T (p.Gly325Val)
|
|
|
NM_005572.4(LMNA):c.1711C>T (p.Arg571Cys)
|
rs80338938
|
|
NM_006096.4(NDRG1):c.1000G>A (p.Val334Ile)
|
rs568119325
|
|
NM_006096.4(NDRG1):c.1021C>T (p.Arg341Cys)
|
|
|
NM_006096.4(NDRG1):c.1023CAGCCGCTCCCACACCAGCGAGGGCACCCG[3] (p.Gly369_Ala370insThrArgSerArgSerHisThrSerGluGlyThrArgSerArgSerHisThrSerGluGly)
|
|
|
NM_006096.4(NDRG1):c.1023_1052dup (p.Gly369_Ala370insThrArgSerArgSerHisThrSerGluGly)
|
|
|
NM_006096.4(NDRG1):c.1032_1091del (p.340TRSRSHTSEG[1])
|
rs1554747479
|
|
NM_006096.4(NDRG1):c.1042G>C (p.Glu348Gln)
|
rs775650624
|
|
NM_006096.4(NDRG1):c.1043A>G (p.Glu348Gly)
|
rs2130656034
|
|
NM_006096.4(NDRG1):c.1047_1106del (p.340TRSRSHTSEG[1])
|
rs1855219414
|
|
NM_006096.4(NDRG1):c.1053_1082del (p.340TRSRSHTSEG[2])
|
rs751274009
|
|
NM_006096.4(NDRG1):c.1058G>A (p.Arg353His)
|
|
|
NM_006096.4(NDRG1):c.1062_1091del (p.340_349TRSRSHTSEG[2])
|
rs763499117
|
|
NM_006096.4(NDRG1):c.1062_1091dup (p.340_349TRSRSHTSEG[4])
|
rs763499117
|
|
NM_006096.4(NDRG1):c.1066A>G (p.Thr356Ala)
|
rs111835070
|
|
NM_006096.4(NDRG1):c.1072G>A (p.Glu358Lys)
|
rs2130655766
|
|
NM_006096.4(NDRG1):c.1076G>A (p.Gly359Asp)
|
rs144379016
|
|
NM_006096.4(NDRG1):c.1077_1106del (p.340TRSRSHTSEG[2])
|
rs1554747463
|
|
NM_006096.4(NDRG1):c.10G>A (p.Glu4Lys)
|
rs1857979450
|
|
NM_006096.4(NDRG1):c.1102G>A (p.Glu368Lys)
|
|
|
NM_006096.4(NDRG1):c.1105G>C (p.Gly369Arg)
|
|
|
NM_006096.4(NDRG1):c.1109C>G (p.Ala370Gly)
|
rs367925853
|
|
NM_006096.4(NDRG1):c.1109C>T (p.Ala370Val)
|
rs367925853
|
|
NM_006096.4(NDRG1):c.1112_1114delinsTTT (p.His371Leu)
|
rs1554747447
|
|
NM_006096.4(NDRG1):c.1132T>C (p.Ser378Pro)
|
|
|
NM_006096.4(NDRG1):c.1144G>A (p.Gly382Arg)
|
|
|
NM_006096.4(NDRG1):c.1150A>C (p.Ser384Arg)
|
|
|
NM_006096.4(NDRG1):c.1151G>A (p.Ser384Asn)
|
|
|
NM_006096.4(NDRG1):c.1171G>A (p.Glu391Lys)
|
rs1413072034
|
|
NM_006096.4(NDRG1):c.1178_1180del (p.Ser393del)
|
rs745669327
|
|
NM_006096.4(NDRG1):c.12G>T (p.Glu4Asp)
|
rs1286565668
|
|
NM_006096.4(NDRG1):c.139A>G (p.Thr47Ala)
|
rs2130743246
|
|
NM_006096.4(NDRG1):c.158A>C (p.Lys53Thr)
|
|
|
NM_006096.4(NDRG1):c.158A>G (p.Lys53Arg)
|
rs140634799
|
|
NM_006096.4(NDRG1):c.176T>C (p.Ile59Thr)
|
rs1856819839
|
|
NM_006096.4(NDRG1):c.18G>C (p.Gln6His)
|
|
|
NM_006096.4(NDRG1):c.196G>T (p.Gly66Cys)
|
rs780329667
|
|
NM_006096.4(NDRG1):c.212C>A (p.Thr71Asn)
|
rs1554591949
|
|
NM_006096.4(NDRG1):c.217T>A (p.Tyr73Asn)
|
rs368584363
|
|
NM_006096.4(NDRG1):c.218A>G (p.Tyr73Cys)
|
|
|
NM_006096.4(NDRG1):c.250_252del (p.Glu84del)
|
rs1278099164
|
|
NM_006096.4(NDRG1):c.251A>G (p.Glu84Gly)
|
rs1372913345
|
|
NM_006096.4(NDRG1):c.260A>C (p.Gln87Pro)
|
rs1350908820
|
|
NM_006096.4(NDRG1):c.274T>C (p.Cys92Arg)
|
rs2130736126
|
|
NM_006096.4(NDRG1):c.307G>T (p.Ala103Ser)
|
rs374160497
|
|
NM_006096.4(NDRG1):c.314C>G (p.Ser105Cys)
|
rs570291930
|
|
NM_006096.4(NDRG1):c.314C>T (p.Ser105Phe)
|
rs570291930
|
|
NM_006096.4(NDRG1):c.319C>T (p.Pro107Ser)
|
rs1856684767
|
|
NM_006096.4(NDRG1):c.326+5G>C
|
|
|
NM_006096.4(NDRG1):c.328T>C (p.Tyr110His)
|
rs1586440110
|
|
NM_006096.4(NDRG1):c.332T>G (p.Met111Arg)
|
|
|
NM_006096.4(NDRG1):c.340T>A (p.Ser114Thr)
|
|
|
NM_006096.4(NDRG1):c.343A>G (p.Met115Val)
|
|
|
NM_006096.4(NDRG1):c.347A>T (p.Asp116Val)
|
rs2130727469
|
|
NM_006096.4(NDRG1):c.350A>T (p.Gln117Leu)
|
rs2130727461
|
|
NM_006096.4(NDRG1):c.355G>C (p.Ala119Pro)
|
rs1856537884
|
|
NM_006096.4(NDRG1):c.380A>G (p.Gln127Arg)
|
|
|
NM_006096.4(NDRG1):c.387T>G (p.Phe129Leu)
|
rs574238421
|
|
NM_006096.4(NDRG1):c.389G>A (p.Gly130Glu)
|
rs759258704
|
|
NM_006096.4(NDRG1):c.410T>C (p.Met137Thr)
|
rs1856491809
|
|
NM_006096.4(NDRG1):c.416C>G (p.Thr139Arg)
|
rs863224745
|
|
NM_006096.4(NDRG1):c.448G>A (p.Ala150Thr)
|
rs150796527
|
|
NM_006096.4(NDRG1):c.455A>C (p.Asn152Thr)
|
|
|
NM_006096.4(NDRG1):c.456C>G (p.Asn152Lys)
|
rs760921567
|
|
NM_006096.4(NDRG1):c.468G>A (p.Met156Ile)
|
rs1856402568
|
|
NM_006096.4(NDRG1):c.469G>A (p.Val157Met)
|
|
|
NM_006096.4(NDRG1):c.47T>C (p.Leu16Ser)
|
rs1857976213
|
|
NM_006096.4(NDRG1):c.498C>A (p.Asn166Lys)
|
rs1856400076
|
|
NM_006096.4(NDRG1):c.4T>C (p.Ser2Pro)
|
rs781381539
|
|
NM_006096.4(NDRG1):c.506C>T (p.Ala169Val)
|
rs963190299
|
|
NM_006096.4(NDRG1):c.50T>A (p.Val17Glu)
|
rs1857975791
|
|
NM_006096.4(NDRG1):c.521A>T (p.Asp174Val)
|
|
|
NM_006096.4(NDRG1):c.523T>C (p.Trp175Arg)
|
rs1586434783
|
|
NM_006096.4(NDRG1):c.529G>A (p.Ala177Thr)
|
rs753878542
|
|
NM_006096.4(NDRG1):c.52G>A (p.Glu18Lys)
|
|
|
NM_006096.4(NDRG1):c.538-5T>A
|
rs1175681774
|
|
NM_006096.4(NDRG1):c.584T>A (p.Leu195His)
|
rs1856262402
|
|
NM_006096.4(NDRG1):c.595-6A>G
|
rs1554749794
|
|
NM_006096.4(NDRG1):c.601A>G (p.Met201Val)
|
|
|
NM_006096.4(NDRG1):c.605A>C (p.Gln202Pro)
|
|
|
NM_006096.4(NDRG1):c.63G>A (p.Glu21=)
|
|
|
NM_006096.4(NDRG1):c.646G>T (p.Val216Leu)
|
|
|
NM_006096.4(NDRG1):c.650A>G (p.Asn217Ser)
|
|
|
NM_006096.4(NDRG1):c.67A>G (p.Ile23Val)
|
|
|
NM_006096.4(NDRG1):c.698+5T>G
|
|
|
NM_006096.4(NDRG1):c.698+6G>T
|
|
|
NM_006096.4(NDRG1):c.730C>T (p.Pro244Ser)
|
rs1187584644
|
|
NM_006096.4(NDRG1):c.73G>T (p.Gly25Cys)
|
rs377527660
|
|
NM_006096.4(NDRG1):c.742A>G (p.Thr248Ala)
|
rs1276502410
|
|
NM_006096.4(NDRG1):c.758G>A (p.Cys253Tyr)
|
rs1855781697
|
|
NM_006096.4(NDRG1):c.761C>T (p.Pro254Leu)
|
|
|
NM_006096.4(NDRG1):c.770T>C (p.Leu257Ser)
|
|
|
NM_006096.4(NDRG1):c.775G>A (p.Val259Ile)
|
|
|
NM_006096.4(NDRG1):c.776T>C (p.Val259Ala)
|
rs201759485
|
|
NM_006096.4(NDRG1):c.794C>T (p.Ala265Val)
|
rs1855777702
|
|
NM_006096.4(NDRG1):c.800A>G (p.Asp267Gly)
|
rs1287073036
|
|
NM_006096.4(NDRG1):c.802G>T (p.Ala268Ser)
|
rs752290896
|
|
NM_006096.4(NDRG1):c.818A>G (p.Asn273Ser)
|
|
|
NM_006096.4(NDRG1):c.835A>G (p.Thr279Ala)
|
|
|
NM_006096.4(NDRG1):c.842C>A (p.Thr281Asn)
|
|
|
NM_006096.4(NDRG1):c.845C>G (p.Thr282Ser)
|
rs1449128690
|
|
NM_006096.4(NDRG1):c.855+4C>G
|
rs1045595033
|
|
NM_006096.4(NDRG1):c.863_872del (p.Asp288fs)
|
|
|
NM_006096.4(NDRG1):c.866_875del (p.Cys289fs)
|
rs2130676399
|
|
NM_006096.4(NDRG1):c.871G>A (p.Gly291Ser)
|
|
|
NM_006096.4(NDRG1):c.892C>T (p.Pro298Ser)
|
|
|
NM_006096.4(NDRG1):c.943+5G>A
|
rs778982295
|
|
NM_006096.4(NDRG1):c.956G>A (p.Ser319Asn)
|
rs1564277421
|
|
NM_006096.4(NDRG1):c.956G>T (p.Ser319Ile)
|
|
|
NM_006096.4(NDRG1):c.964C>T (p.Arg322Cys)
|
rs368404338
|
|
NM_006096.4(NDRG1):c.965G>T (p.Arg322Leu)
|
rs1307068606
|
|
NM_006096.4(NDRG1):c.980G>A (p.Arg327His)
|
rs565705964
|
|
NM_006096.4(NDRG1):c.980_981delinsTT (p.Arg327Leu)
|
|
|
NM_006096.4(NDRG1):c.983C>T (p.Thr328Ile)
|
|
|
NM_006096.4(NDRG1):c.986C>A (p.Ala329Asp)
|
|
|
NM_006096.4(NDRG1):c.99+18C>G
|
|
|
NM_006158.5(NEFL):c.1009G>C (p.Glu337Gln)
|
|
|
NM_006158.5(NEFL):c.1016A>C (p.Lys339Thr)
|
rs1586127945
|
|
NM_006158.5(NEFL):c.1018C>G (p.Gln340Glu)
|
|
|
NM_006158.5(NEFL):c.1027G>A (p.Asp343Asn)
|
rs973190345
|
|
NM_006158.5(NEFL):c.1032C>G (p.Ile344Met)
|
rs1586127924
|
|
NM_006158.5(NEFL):c.1044G>A (p.Gln348=)
|
rs1234285997
|
|
NM_006158.5(NEFL):c.1047C>G (p.Asp349Glu)
|
|
|
NM_006158.5(NEFL):c.104C>T (p.Thr35Ile)
|
|
|
NM_006158.5(NEFL):c.1054A>C (p.Asn352His)
|
rs748970912
|
|
NM_006158.5(NEFL):c.1065A>T (p.Glu355Asp)
|
|
|
NM_006158.5(NEFL):c.1069G>A (p.Glu357Lys)
|
rs1060503693
|
|
NM_006158.5(NEFL):c.1077G>C (p.Arg359Ser)
|
|
|
NM_006158.5(NEFL):c.1097C>T (p.Ala366Val)
|
|
|
NM_006158.5(NEFL):c.109C>T (p.Arg37Cys)
|
|
|
NM_006158.5(NEFL):c.1100G>A (p.Arg367Gln)
|
rs758969477
|
|
NM_006158.5(NEFL):c.1124T>A (p.Leu375His)
|
|
|
NM_006158.5(NEFL):c.1127T>C (p.Leu376Pro)
|
|
|
NM_006158.5(NEFL):c.1128C>A (p.Leu376=)
|
|
|
NM_006158.5(NEFL):c.1136A>C (p.Lys379Thr)
|
|
|
NM_006158.5(NEFL):c.1145T>C (p.Leu382Ser)
|
rs775218507
|
|
NM_006158.5(NEFL):c.1153G>C (p.Glu385Gln)
|
|
|
NM_006158.5(NEFL):c.1154A>T (p.Glu385Val)
|
rs1563251398
|
|
NM_006158.5(NEFL):c.1156A>G (p.Ile386Val)
|
|
|
NM_006158.5(NEFL):c.1157T>G (p.Ile386Ser)
|
rs2117252327
|
|
NM_006158.5(NEFL):c.1166A>C (p.Tyr389Ser)
|
|
|
NM_006158.5(NEFL):c.1167C>T (p.Tyr389=)
|
rs1586126978
|
|
NM_006158.5(NEFL):c.1170-3C>T
|
rs2117251902
|
|
NM_006158.5(NEFL):c.1171A>G (p.Lys391Glu)
|
rs2117251897
|
|
NM_006158.5(NEFL):c.1180G>A (p.Glu394Lys)
|
rs2117251886
|
|
NM_006158.5(NEFL):c.1190A>G (p.Glu397Gly)
|
rs2117251875
|
|
NM_006158.5(NEFL):c.1196G>C (p.Arg399Pro)
|
rs372997416
|
|
NM_006158.5(NEFL):c.1201_1318del (p.Ser401fs)
|
rs2117251668
|
|
NM_006158.5(NEFL):c.1247C>T (p.Ser416Phe)
|
|
|
NM_006158.5(NEFL):c.1248C>T (p.Ser416=)
|
|
|
NM_006158.5(NEFL):c.1262G>A (p.Arg421Gln)
|
|
|
NM_006158.5(NEFL):c.1265C>T (p.Ser422Phe)
|
rs1803002899
|
|
NM_006158.5(NEFL):c.126C>G (p.Ser42Arg)
|
|
|
NM_006158.5(NEFL):c.1284G>A (p.Gln428=)
|
rs931901985
|
|
NM_006158.5(NEFL):c.1292C>G (p.Ser431Cys)
|
rs559215942
|
|
NM_006158.5(NEFL):c.1315T>C (p.Phe439Leu)
|
rs199775873
|
|
NM_006158.5(NEFL):c.1324TAC[1] (p.Tyr443del)
|
rs1554497354
|
|
NM_006158.5(NEFL):c.1325A>G (p.Tyr442Cys)
|
rs1461577846
|
|
NM_006158.5(NEFL):c.1326C>T (p.Tyr442=)
|
|
|
NM_006158.5(NEFL):c.1332del (p.Ser445fs)
|
|
|
NM_006158.5(NEFL):c.1333A>G (p.Ser445Gly)
|
rs1563251190
|
|
NM_006158.5(NEFL):c.1343A>G (p.Gln448Arg)
|
rs2117251585
|
|
NM_006158.5(NEFL):c.1347G>C (p.Glu449Asp)
|
rs1027193109
|
|
NM_006158.5(NEFL):c.134C>T (p.Ala45Val)
|
|
|
NM_006158.5(NEFL):c.1356C>G (p.Ile452Met)
|
rs375151853
|
|
NM_006158.5(NEFL):c.1373T>C (p.Ile458Thr)
|
rs372034119
|
|
NM_006158.5(NEFL):c.1379C>T (p.Ala460Val)
|
rs2117251550
|
|
NM_006158.5(NEFL):c.1386G>A (p.Lys462=)
|
|
|
NM_006158.5(NEFL):c.1412C>A (p.Pro471His)
|
rs756696405
|
|
NM_006158.5(NEFL):c.1412C>G (p.Pro471Arg)
|
|
|
NM_006158.5(NEFL):c.1438_1440delinsAGA (p.Glu480Arg)
|
rs1586126391
|
|
NM_006158.5(NEFL):c.1441_1443del (p.Lys481del)
|
rs756788675
|
|
NM_006158.5(NEFL):c.1457C>A (p.Ala486Asp)
|
rs968491415
|
|
NM_006158.5(NEFL):c.1459G>T (p.Glu487Ter)
|
rs558065942
|
|
NM_006158.5(NEFL):c.1471G>C (p.Ala491Pro)
|
|
|
NM_006158.5(NEFL):c.1471_1472delinsTT (p.Ala491Leu)
|
rs1554497315
|
|
NM_006158.5(NEFL):c.1489+6A>T
|
rs1802996927
|
|
NM_006158.5(NEFL):c.1502_1503del (p.Glu501fs)
|
|
|
NM_006158.5(NEFL):c.1512A>T (p.Glu504Asp)
|
rs2117250817
|
|
NM_006158.5(NEFL):c.1513G>A (p.Ala505Thr)
|
rs1060503694
|
|
NM_006158.5(NEFL):c.1514C>T (p.Ala505Val)
|
|
|
NM_006158.5(NEFL):c.1517AAG[4] (p.Glu510del)
|
rs570816238
|
|
NM_006158.5(NEFL):c.1517AAG[6] (p.Glu510dup)
|
rs570816238
|
|
NM_006158.5(NEFL):c.1525G>A (p.Glu509Lys)
|
|
|
NM_006158.5(NEFL):c.1532_1537dup (p.Gly511_Gly512dup)
|
rs777344234
|
|
NM_006158.5(NEFL):c.1540G>C (p.Gly514Arg)
|
rs1586126037
|
|
NM_006158.5(NEFL):c.1544AAG[1] (p.Glu516del)
|
rs758240691
|
|
NM_006158.5(NEFL):c.1558A>T (p.Thr520Ser)
|
rs2117250713
|
|
NM_006158.5(NEFL):c.1576G>A (p.Glu526Lys)
|
|
|
NM_006158.5(NEFL):c.1597G>T (p.Ala533Ser)
|
|
|
NM_006158.5(NEFL):c.1618A>G (p.Lys540Glu)
|
rs1157404996
|
|
NM_006158.5(NEFL):c.1627G>A (p.Asp543Asn)
|
rs1802987647
|
|
NM_006158.5(NEFL):c.193A>G (p.Met65Val)
|
|
|
NM_006158.5(NEFL):c.194T>C (p.Met65Thr)
|
|
|
NM_006158.5(NEFL):c.194T>G (p.Met65Arg)
|
|
|
NM_006158.5(NEFL):c.200G>A (p.Ser67Asn)
|
|
|
NM_006158.5(NEFL):c.214G>T (p.Asp72Tyr)
|
rs748849867
|
|
NM_006158.5(NEFL):c.220A>T (p.Ser74Cys)
|
rs1803055066
|
|
NM_006158.5(NEFL):c.229G>C (p.Ala77Pro)
|
|
|
NM_006158.5(NEFL):c.22C>G (p.Pro8Ala)
|
rs886043551
|
|
NM_006158.5(NEFL):c.22C>T (p.Pro8Ser)
|
rs886043551
|
|
NM_006158.5(NEFL):c.236T>A (p.Ile79Asn)
|
|
|
NM_006158.5(NEFL):c.243C>A (p.Asn81Lys)
|
rs761847300
|
|
NM_006158.5(NEFL):c.262A>C (p.Thr88Pro)
|
rs2117255599
|
|
NM_006158.5(NEFL):c.263C>A (p.Thr88Lys)
|
|
|
NM_006158.5(NEFL):c.269A>G (p.Glu90Gly)
|
rs1803053844
|
|
NM_006158.5(NEFL):c.26A>G (p.Tyr9Cys)
|
rs1586129246
|
|
NM_006158.5(NEFL):c.275_286del (p.Ala92_Gln95del)
|
|
|
NM_006158.5(NEFL):c.281T>A (p.Leu94His)
|
|
|
NM_006158.5(NEFL):c.287A>T (p.Asp96Val)
|
|
|
NM_006158.5(NEFL):c.289C>A (p.Leu97Ile)
|
rs587777888
|
|
NM_006158.5(NEFL):c.289C>T (p.Leu97Phe)
|
rs587777888
|
|
NM_006158.5(NEFL):c.290T>C (p.Leu97Pro)
|
rs1803053378
|
|
NM_006158.5(NEFL):c.290T>G (p.Leu97Arg)
|
rs1803053378
|
|
NM_006158.5(NEFL):c.292A>G (p.Asn98Asp)
|
|
|
NM_006158.5(NEFL):c.294T>G (p.Asn98Lys)
|
rs1057517776
|
|
NM_006158.5(NEFL):c.299G>C (p.Arg100Pro)
|
|
|
NM_006158.5(NEFL):c.29A>C (p.Tyr10Ser)
|
|
|
NM_006158.5(NEFL):c.304G>T (p.Ala102Ser)
|
rs1323026981
|
|
NM_006158.5(NEFL):c.316G>A (p.Glu106Lys)
|
|
|
NM_006158.5(NEFL):c.331C>G (p.Leu111Val)
|
|
|
NM_006158.5(NEFL):c.334G>A (p.Glu112Lys)
|
rs2117255452
|
|
NM_006158.5(NEFL):c.365T>G (p.Leu122Arg)
|
|
|
NM_006158.5(NEFL):c.377G>A (p.Arg126His)
|
rs1364995930
|
|
NM_006158.5(NEFL):c.398C>T (p.Ser133Phe)
|
|
|
NM_006158.5(NEFL):c.415T>A (p.Tyr139Asn)
|
rs868126991
|
|
NM_006158.5(NEFL):c.422A>C (p.Gln141Pro)
|
|
|
NM_006158.5(NEFL):c.443T>A (p.Leu148Gln)
|
rs1338365987
|
|
NM_006158.5(NEFL):c.446C>T (p.Ala149Val)
|
rs59101996
|
|
NM_006158.5(NEFL):c.44A>C (p.Lys15Thr)
|
rs776351925
|
|
NM_006158.5(NEFL):c.44A>G (p.Lys15Arg)
|
rs776351925
|
|
NM_006158.5(NEFL):c.46C>T (p.Arg16Trp)
|
|
|
NM_006158.5(NEFL):c.475_996del (p.Ala159_Gln332del)
|
|
|
NM_006158.5(NEFL):c.484G>A (p.Gly162Ser)
|
rs1437779457
|
|
NM_006158.5(NEFL):c.486C>T (p.Gly162=)
|
rs1803048212
|
|
NM_006158.5(NEFL):c.491G>A (p.Arg164His)
|
|
|
NM_006158.5(NEFL):c.493G>A (p.Glu165Lys)
|
rs1323700017
|
|
NM_006158.5(NEFL):c.494A>C (p.Glu165Ala)
|
|
|
NM_006158.5(NEFL):c.503A>G (p.Glu168Gly)
|
|
|
NM_006158.5(NEFL):c.507G>C (p.Glu169Asp)
|
|
|
NM_006158.5(NEFL):c.509C>A (p.Thr170Asn)
|
rs541360328
|
|
NM_006158.5(NEFL):c.509C>T (p.Thr170Ile)
|
rs541360328
|
|
NM_006158.5(NEFL):c.514C>T (p.Arg172Cys)
|
|
|
NM_006158.5(NEFL):c.531C>T (p.Arg177=)
|
|
|
NM_006158.5(NEFL):c.533A>G (p.Tyr178Cys)
|
|
|
NM_006158.5(NEFL):c.542A>C (p.Glu181Ala)
|
|
|
NM_006158.5(NEFL):c.551G>A (p.Ser184Asn)
|
|
|
NM_006158.5(NEFL):c.556G>C (p.Glu186Gln)
|
|
|
NM_006158.5(NEFL):c.55G>A (p.Val19Met)
|
rs1424618809
|
|
NM_006158.5(NEFL):c.569G>T (p.Gly190Val)
|
rs1803044984
|
|
NM_006158.5(NEFL):c.572G>A (p.Arg191Gln)
|
rs755170407
|
|
NM_006158.5(NEFL):c.581A>G (p.Glu194Gly)
|
|
|
NM_006158.5(NEFL):c.586C>A (p.Arg196Ser)
|
|
|
NM_006158.5(NEFL):c.58G>A (p.Glu20Lys)
|
rs779821785
|
|
NM_006158.5(NEFL):c.593G>C (p.Gly198Ala)
|
rs1554497605
|
|
NM_006158.5(NEFL):c.596C>T (p.Ala199Val)
|
|
|
NM_006158.5(NEFL):c.598G>A (p.Asp200Asn)
|
|
|
NM_006158.5(NEFL):c.598G>C (p.Asp200His)
|
rs1312229375
|
|
NM_006158.5(NEFL):c.603G>T (p.Glu201Asp)
|
rs1217355732
|
|
NM_006158.5(NEFL):c.604G>A (p.Ala202Thr)
|
|
|
NM_006158.5(NEFL):c.608C>T (p.Ala203Val)
|
rs753319598
|
|
NM_006158.5(NEFL):c.614C>T (p.Ala205Val)
|
rs556617527
|
|
NM_006158.5(NEFL):c.616C>G (p.Arg206Gly)
|
rs771763817
|
|
NM_006158.5(NEFL):c.619G>C (p.Ala207Pro)
|
rs868855966
|
|
NM_006158.5(NEFL):c.62_64delinsTTT (p.Thr21_Pro22delinsIleSer)
|
rs2117255966
|
|
NM_006158.5(NEFL):c.648G>A (p.Leu216=)
|
|
|
NM_006158.5(NEFL):c.649A>C (p.Met217Leu)
|
|
|
NM_006158.5(NEFL):c.64C>G (p.Pro22Ala)
|
rs28928910
|
|
NM_006158.5(NEFL):c.65C>A (p.Pro22His)
|
rs267607538
|
|
NM_006158.5(NEFL):c.65C>T (p.Pro22Leu)
|
rs267607538
|
|
NM_006158.5(NEFL):c.662C>T (p.Ser221Phe)
|
|
|
NM_006158.5(NEFL):c.668T>C (p.Leu223Pro)
|
rs1563251953
|
|
NM_006158.5(NEFL):c.67C>G (p.Arg23Gly)
|
rs772092001
|
|
NM_006158.5(NEFL):c.67C>T (p.Arg23Trp)
|
rs772092001
|
|
NM_006158.5(NEFL):c.682G>A (p.Glu228Lys)
|
|
|
NM_006158.5(NEFL):c.682G>C (p.Glu228Gln)
|
rs895511770
|
|
NM_006158.5(NEFL):c.688G>A (p.Glu230Lys)
|
rs758201328
|
|
NM_006158.5(NEFL):c.68G>C (p.Arg23Pro)
|
rs745353207
|
|
NM_006158.5(NEFL):c.705G>A (p.Gln235=)
|
|
|
NM_006158.5(NEFL):c.709C>G (p.Gln237Glu)
|
|
|
NM_006158.5(NEFL):c.712A>T (p.Ile238Phe)
|
rs534615840
|
|
NM_006158.5(NEFL):c.748A>C (p.Thr250Pro)
|
|
|
NM_006158.5(NEFL):c.74_88del (p.His25_Val29del)
|
|
|
NM_006158.5(NEFL):c.761T>C (p.Leu254Pro)
|
rs1554497578
|
|
NM_006158.5(NEFL):c.763T>C (p.Ser255Pro)
|
|
|
NM_006158.5(NEFL):c.767C>G (p.Ala256Gly)
|
|
|
NM_006158.5(NEFL):c.767C>T (p.Ala256Val)
|
rs775775697
|
|
NM_006158.5(NEFL):c.769G>A (p.Ala257Thr)
|
rs1803039812
|
|
NM_006158.5(NEFL):c.789G>A (p.Ala263=)
|
|
|
NM_006158.5(NEFL):c.797A>G (p.Glu266Gly)
|
rs1367433683
|
|
NM_006158.5(NEFL):c.797A>T (p.Glu266Val)
|
rs1367433683
|
|
NM_006158.5(NEFL):c.79T>C (p.Ser27Pro)
|
rs2117255911
|
|
NM_006158.5(NEFL):c.818T>C (p.Met273Thr)
|
|
|
NM_006158.5(NEFL):c.820C>G (p.Gln274Glu)
|
rs2117254497
|
|
NM_006158.5(NEFL):c.836G>T (p.Trp279Leu)
|
|
|
NM_006158.5(NEFL):c.841A>G (p.Lys281Glu)
|
|
|
NM_006158.5(NEFL):c.845G>A (p.Ser282Asn)
|
rs1803037186
|
|
NM_006158.5(NEFL):c.867G>C (p.Glu289Asp)
|
|
|
NM_006158.5(NEFL):c.868A>G (p.Ser290Gly)
|
rs777110668
|
|
NM_006158.5(NEFL):c.86T>C (p.Val29Ala)
|
rs372748927
|
|
NM_006158.5(NEFL):c.870C>G (p.Ser290Arg)
|
rs2117254420
|
|
NM_006158.5(NEFL):c.873C>A (p.Ala291=)
|
|
|
NM_006158.5(NEFL):c.882C>A (p.Asn294Lys)
|
rs946938553
|
|
NM_006158.5(NEFL):c.882C>G (p.Asn294Lys)
|
rs946938553
|
|
NM_006158.5(NEFL):c.88C>A (p.Arg30Ser)
|
|
|
NM_006158.5(NEFL):c.898GCC[1] (p.Ala301del)
|
rs765310700
|
|
NM_006158.5(NEFL):c.925C>T (p.Arg309Cys)
|
rs1803035476
|
|
NM_006158.5(NEFL):c.932T>C (p.Leu311Pro)
|
|
|
NM_006158.5(NEFL):c.935T>C (p.Leu312Pro)
|
|
|
NM_006158.5(NEFL):c.940G>A (p.Ala314Thr)
|
|
|
NM_006158.5(NEFL):c.940_945del (p.Ala314_Lys315del)
|
|
|
NM_006158.5(NEFL):c.94G>C (p.Gly32Arg)
|
|
|
NM_006158.5(NEFL):c.958G>A (p.Glu320Lys)
|
|
|
NM_006158.5(NEFL):c.968G>A (p.Arg323Gln)
|
|
|
NM_006158.5(NEFL):c.973A>G (p.Met325Val)
|
rs2117254246
|
|
NM_006158.5(NEFL):c.983C>A (p.Ala328Glu)
|
rs768190580
|
|
NM_006158.5(NEFL):c.985C>G (p.Leu329Val)
|
|
|
NM_006158.5(NEFL):c.990_1013dup (p.Glu330_Glu337dup)
|
rs1586127947
|
|
NM_006158.5(NEFL):c.997C>G (p.Leu333Val)
|
|
|
NM_006158.5(NEFL):c.998T>C (p.Leu333Pro)
|
rs60930717
|
|
NM_014365.3(HSPB8):c.11G>A (p.Gly4Asp)
|
rs1172676336
|
|
NM_014365.3(HSPB8):c.121C>T (p.Pro41Ser)
|
rs920906527
|
|
NM_014365.3(HSPB8):c.127G>A (p.Asp43Asn)
|
rs1954622196
|
|
NM_014365.3(HSPB8):c.134C>G (p.Thr45Arg)
|
rs1249375553
|
|
NM_014365.3(HSPB8):c.137C>A (p.Ala46Asp)
|
rs1954622275
|
|
NM_014365.3(HSPB8):c.142T>C (p.Trp48Arg)
|
rs2136079909
|
|
NM_014365.3(HSPB8):c.143G>A (p.Trp48Ter)
|
|
|
NM_014365.3(HSPB8):c.148G>A (p.Asp50Asn)
|
|
|
NM_014365.3(HSPB8):c.149A>T (p.Asp50Val)
|
rs374254847
|
|
NM_014365.3(HSPB8):c.150C>A (p.Asp50Glu)
|
rs2136079920
|
|
NM_014365.3(HSPB8):c.166C>A (p.Leu56Ile)
|
|
|
NM_014365.3(HSPB8):c.184_185del (p.Gly62fs)
|
rs1954622635
|
|
NM_014365.3(HSPB8):c.185G>A (p.Gly62Asp)
|
|
|
NM_014365.3(HSPB8):c.188C>T (p.Thr63Ile)
|
rs771054805
|
|
NM_014365.3(HSPB8):c.194G>A (p.Arg65Lys)
|
rs1265247622
|
|
NM_014365.3(HSPB8):c.201C>T (p.Gly67=)
|
rs1565927038
|
|
NM_014365.3(HSPB8):c.204G>A (p.Met68Ile)
|
|
|
NM_014365.3(HSPB8):c.215G>A (p.Gly72Asp)
|
|
|
NM_014365.3(HSPB8):c.218C>T (p.Pro73Leu)
|
|
|
NM_014365.3(HSPB8):c.239G>C (p.Gly80Ala)
|
|
|
NM_014365.3(HSPB8):c.241G>A (p.Val81Met)
|
rs767880226
|
|
NM_014365.3(HSPB8):c.266C>A (p.Pro89Gln)
|
rs35909818
|
|
NM_014365.3(HSPB8):c.266C>T (p.Pro89Leu)
|
rs35909818
|
|
NM_014365.3(HSPB8):c.266del (p.Pro89fs)
|
|
|
NM_014365.3(HSPB8):c.266dup (p.Pro90fs)
|
rs773017653
|
|
NM_014365.3(HSPB8):c.26C>T (p.Ser9Phe)
|
|
|
NM_014365.3(HSPB8):c.27_28delinsGG (p.Cys10Gly)
|
|
|
NM_014365.3(HSPB8):c.281A>G (p.Glu94Gly)
|
|
|
NM_014365.3(HSPB8):c.317A>G (p.Lys106Arg)
|
|
|
NM_014365.3(HSPB8):c.32A>C (p.His11Pro)
|
|
|
NM_014365.3(HSPB8):c.334del (p.Met111_Val112insTer)
|
rs1954624384
|
|
NM_014365.3(HSPB8):c.364T>C (p.Ser122Pro)
|
|
|
NM_014365.3(HSPB8):c.365C>A (p.Ser122Tyr)
|
rs1427416227
|
|
NM_014365.3(HSPB8):c.374A>G (p.His125Arg)
|
rs138733926
|
|
NM_014365.3(HSPB8):c.388C>G (p.Gln130Glu)
|
|
|
NM_014365.3(HSPB8):c.421A>C (p.Lys141Gln)
|
rs104894351
|
|
NM_014365.3(HSPB8):c.430C>G (p.Gln144Glu)
|
|
|
NM_014365.3(HSPB8):c.432-10T>C
|
|
|
NM_014365.3(HSPB8):c.437C>G (p.Pro146Arg)
|
rs1565930539
|
|
NM_014365.3(HSPB8):c.439G>A (p.Ala147Thr)
|
|
|
NM_014365.3(HSPB8):c.43C>T (p.Arg15Cys)
|
rs1954619848
|
|
NM_014365.3(HSPB8):c.451C>T (p.Pro151Ser)
|
rs2136086280
|
|
NM_014365.3(HSPB8):c.461T>C (p.Val154Ala)
|
rs1954726459
|
|
NM_014365.3(HSPB8):c.472C>T (p.Leu158Phe)
|
rs144662422
|
|
NM_014365.3(HSPB8):c.502G>A (p.Ala168Thr)
|
rs1592932884
|
|
NM_014365.3(HSPB8):c.506C>T (p.Pro169Leu)
|
rs1592932892
|
|
NM_014365.3(HSPB8):c.508C>A (p.Gln170Lys)
|
|
|
NM_014365.3(HSPB8):c.50G>A (p.Arg17His)
|
rs146997263
|
|
NM_014365.3(HSPB8):c.50G>C (p.Arg17Pro)
|
|
|
NM_014365.3(HSPB8):c.510G>C (p.Gln170His)
|
|
|
NM_014365.3(HSPB8):c.511G>A (p.Val171Ile)
|
|
|
NM_014365.3(HSPB8):c.515del (p.Pro172fs)
|
rs1954727159
|
|
NM_014365.3(HSPB8):c.518C>T (p.Pro173Leu)
|
rs757849883
|
|
NM_014365.3(HSPB8):c.523T>C (p.Ser175Pro)
|
|
|
NM_014365.3(HSPB8):c.526A>G (p.Thr176Ala)
|
rs1592932914
|
|
NM_014365.3(HSPB8):c.540C>G (p.Ser180Arg)
|
|
|
NM_014365.3(HSPB8):c.541A>T (p.Ser181Cys)
|
rs760688825
|
|
NM_014365.3(HSPB8):c.556C>T (p.Leu186Phe)
|
rs1954727649
|
|
NM_014365.3(HSPB8):c.559C>T (p.Pro187Ser)
|
rs1829801528
|
|
NM_014365.3(HSPB8):c.563dup (p.Asp189fs)
|
rs2136086393
|
|
NM_014365.3(HSPB8):c.566A>G (p.Asp189Gly)
|
|
|
NM_014365.3(HSPB8):c.570C>A (p.Ser190Arg)
|
rs551013013
|
|
NM_014365.3(HSPB8):c.580A>T (p.Thr194Ser)
|
rs771995241
|
|
NM_014365.3(HSPB8):c.581C>A (p.Thr194Asn)
|
|
|
NM_014365.3(HSPB8):c.58C>T (p.Pro20Ser)
|
rs2136079863
|
|
NM_014365.3(HSPB8):c.85C>A (p.Arg29Ser)
|
rs748320300
|
|
NM_014365.3(HSPB8):c.85C>T (p.Arg29Cys)
|
rs748320300
|
|
NM_014365.3(HSPB8):c.86G>A (p.Arg29His)
|
|
|
NM_014365.3(HSPB8):c.95A>C (p.Asp32Ala)
|
|
|
NM_014365.3(HSPB8):c.95A>G (p.Asp32Gly)
|
|
|
NM_014365.3(HSPB8):c.9C>G (p.Asp3Glu)
|
rs952834680
|
|
NM_014845.6(FIG4):c.1012A>G (p.Thr338Ala)
|
|
|
NM_014845.6(FIG4):c.1012A>T (p.Thr338Ser)
|
rs771265385
|
|
NM_014845.6(FIG4):c.1015A>G (p.Met339Val)
|
rs2128386978
|
|
NM_014845.6(FIG4):c.1039+5G>T
|
|
|
NM_014845.6(FIG4):c.1039+6T>C
|
|
|
NM_014845.6(FIG4):c.1066G>A (p.Val356Met)
|
|
|
NM_014845.6(FIG4):c.1085A>T (p.Asp362Val)
|
rs1776394936
|
|
NM_014845.6(FIG4):c.1090A>C (p.Met364Leu)
|
rs2295837
|
|
NM_014845.6(FIG4):c.1097A>G (p.Gln366Arg)
|
|
|
NM_014845.6(FIG4):c.1101G>T (p.Arg367Ser)
|
|
|
NM_014845.6(FIG4):c.1112C>G (p.Pro371Arg)
|
rs2128387082
|
|
NM_014845.6(FIG4):c.1116C>G (p.Ile372Met)
|
rs754932535
|
|
NM_014845.6(FIG4):c.112G>A (p.Val38Ile)
|
rs761940298
|
|
NM_014845.6(FIG4):c.1163G>T (p.Arg388Ile)
|
rs2128391017
|
|
NM_014845.6(FIG4):c.1181TTG[1] (p.Val395del)
|
rs1777062850
|
|
NM_014845.6(FIG4):c.1187C>T (p.Ala396Val)
|
rs758599286
|
|
NM_014845.6(FIG4):c.1199A>G (p.Tyr400Cys)
|
rs755232396
|
|
NM_014845.6(FIG4):c.120G>T (p.Lys40Asn)
|
rs1346518731
|
|
NM_014845.6(FIG4):c.1224G>T (p.Glu408Asp)
|
|
|
NM_014845.6(FIG4):c.1225C>A (p.His409Asn)
|
rs748995164
|
|
NM_014845.6(FIG4):c.1225C>T (p.His409Tyr)
|
rs748995164
|
|
NM_014845.6(FIG4):c.1232T>C (p.Ile411Thr)
|
|
|
NM_014845.6(FIG4):c.1270A>G (p.Ser424Gly)
|
rs1777066450
|
|
NM_014845.6(FIG4):c.1272-3C>T
|
|
|
NM_014845.6(FIG4):c.1274A>G (p.Lys425Arg)
|
rs2128391428
|
|
NM_014845.6(FIG4):c.1312G>A (p.Glu438Lys)
|
rs2128391437
|
|
NM_014845.6(FIG4):c.1316G>A (p.Ser439Asn)
|
|
|
NM_014845.6(FIG4):c.131C>T (p.Thr44Ile)
|
rs375629140
|
|
NM_014845.6(FIG4):c.1349G>A (p.Arg450His)
|
rs188547769
|
|
NM_014845.6(FIG4):c.1349G>T (p.Arg450Leu)
|
rs188547769
|
|
NM_014845.6(FIG4):c.1355A>G (p.Asp452Gly)
|
rs1777129902
|
|
NM_014845.6(FIG4):c.1363T>G (p.Cys455Gly)
|
rs1012991465
|
|
NM_014845.6(FIG4):c.137C>G (p.Pro46Arg)
|
rs1562642404
|
|
NM_014845.6(FIG4):c.1388+5G>T
|
rs200730266
|
|
NM_014845.6(FIG4):c.1388+8T>A
|
rs1255543487
|
|
NM_014845.6(FIG4):c.1424G>A (p.Gly475Asp)
|
rs1777192183
|
|
NM_014845.6(FIG4):c.1435A>G (p.Thr479Ala)
|
|
|
NM_014845.6(FIG4):c.1504A>G (p.Lys502Glu)
|
|
|
NM_014845.6(FIG4):c.1548C>G (p.Asp516Glu)
|
|
|
NM_014845.6(FIG4):c.1557T>G (p.Asn519Lys)
|
|
|
NM_014845.6(FIG4):c.1571C>T (p.Thr524Ile)
|
|
|
NM_014845.6(FIG4):c.1574A>G (p.Asp525Gly)
|
|
|
NM_014845.6(FIG4):c.157G>A (p.Asp53Asn)
|
rs121908290
|
|
NM_014845.6(FIG4):c.1583+3A>G
|
rs866431185
|
|
NM_014845.6(FIG4):c.1584-3T>C
|
|
|
NM_014845.6(FIG4):c.1658G>C (p.Arg553Pro)
|
rs1422048624
|
|
NM_014845.6(FIG4):c.1679T>C (p.Ile560Thr)
|
|
|
NM_014845.6(FIG4):c.16G>T (p.Ala6Ser)
|
rs868101103
|
|
NM_014845.6(FIG4):c.1708A>G (p.Ile570Val)
|
|
|
NM_014845.6(FIG4):c.170T>A (p.Val57Asp)
|
rs1775432556
|
|
NM_014845.6(FIG4):c.1712T>G (p.Met571Arg)
|
rs2128392626
|
|
NM_014845.6(FIG4):c.1752T>A (p.Asp584Glu)
|
rs1060501402
|
|
NM_014845.6(FIG4):c.175A>G (p.Thr59Ala)
|
rs748869342
|
|
NM_014845.6(FIG4):c.1765G>C (p.Asp589His)
|
rs1777637029
|
|
NM_014845.6(FIG4):c.1799C>T (p.Pro600Leu)
|
|
|
NM_014845.6(FIG4):c.1801A>G (p.Thr601Ala)
|
rs986837200
|
|
NM_014845.6(FIG4):c.1802C>T (p.Thr601Ile)
|
rs1777638670
|
|
NM_014845.6(FIG4):c.1808G>A (p.Gly603Glu)
|
rs754127221
|
|
NM_014845.6(FIG4):c.1823G>T (p.Trp608Leu)
|
rs1375864580
|
|
NM_014845.6(FIG4):c.182A>G (p.Gln61Arg)
|
rs1775433375
|
|
NM_014845.6(FIG4):c.183A>G (p.Gln61=)
|
rs1775433473
|
|
NM_014845.6(FIG4):c.1870C>T (p.Leu624Phe)
|
rs1777642023
|
|
NM_014845.6(FIG4):c.1877C>T (p.Pro626Leu)
|
rs772937400
|
|
NM_014845.6(FIG4):c.1879A>G (p.Thr627Ala)
|
rs762859144
|
|
NM_014845.6(FIG4):c.1887A>C (p.Arg629Ser)
|
rs1399283870
|
|
NM_014845.6(FIG4):c.1890-14T>G
|
rs1562682595
|
|
NM_014845.6(FIG4):c.1913A>G (p.Glu638Gly)
|
|
|
NM_014845.6(FIG4):c.1931C>A (p.Pro644Gln)
|
|
|
NM_014845.6(FIG4):c.1948+3A>T
|
|
|
NM_014845.6(FIG4):c.1949-10T>A
|
rs896444437
|
|
NM_014845.6(FIG4):c.1949-10TC[2]
|
|
|
NM_014845.6(FIG4):c.1949-6_1949-3del
|
|
|
NM_014845.6(FIG4):c.1952T>C (p.Ile651Thr)
|
rs2128396248
|
|
NM_014845.6(FIG4):c.1954T>C (p.Cys652Arg)
|
|
|
NM_014845.6(FIG4):c.1978A>T (p.Ile660Leu)
|
rs1777954967
|
|
NM_014845.6(FIG4):c.1981G>T (p.Val661Leu)
|
|
|
NM_014845.6(FIG4):c.1995C>G (p.His665Gln)
|
|
|
NM_014845.6(FIG4):c.1996A>G (p.Lys666Glu)
|
rs781038961
|
|
NM_014845.6(FIG4):c.1999T>C (p.Tyr667His)
|
rs1777955968
|
|
NM_014845.6(FIG4):c.19C>T (p.Pro7Ser)
|
rs1367256224
|
|
NM_014845.6(FIG4):c.2011A>G (p.Ile671Val)
|
rs1554307877
|
|
NM_014845.6(FIG4):c.2031C>G (p.Phe677Leu)
|
|
|
NM_014845.6(FIG4):c.2047T>G (p.Leu683Val)
|
rs761084217
|
|
NM_014845.6(FIG4):c.2052C>A (p.Ser684Arg)
|
rs183958565
|
|
NM_014845.6(FIG4):c.2066C>A (p.Thr689Asn)
|
rs1470703929
|
|
NM_014845.6(FIG4):c.206G>A (p.Arg69His)
|
|
|
NM_014845.6(FIG4):c.2080A>C (p.Met694Leu)
|
|
|
NM_014845.6(FIG4):c.2098G>T (p.Asp700Tyr)
|
rs1554308483
|
|
NM_014845.6(FIG4):c.2149A>G (p.Lys717Glu)
|
rs1259009213
|
|
NM_014845.6(FIG4):c.2152C>G (p.Pro718Ala)
|
rs199801181
|
|
NM_014845.6(FIG4):c.2177T>G (p.Leu726Trp)
|
rs1778084158
|
|
NM_014845.6(FIG4):c.2180+3A>G
|
rs1778084325
|
|
NM_014845.6(FIG4):c.2181-10C>A
|
rs1583740892
|
|
NM_014845.6(FIG4):c.2183A>G (p.Asn728Ser)
|
rs1778129763
|
|
NM_014845.6(FIG4):c.2192A>G (p.Asn731Ser)
|
rs1467094847
|
|
NM_014845.6(FIG4):c.2201A>G (p.Glu734Gly)
|
|
|
NM_014845.6(FIG4):c.2204C>G (p.Ala735Gly)
|
rs2128397245
|
|
NM_014845.6(FIG4):c.2215C>T (p.Arg739Trp)
|
rs773877685
|
|
NM_014845.6(FIG4):c.2242C>T (p.Pro748Ser)
|
|
|
NM_014845.6(FIG4):c.2260G>A (p.Val754Met)
|
rs200691981
|
|
NM_014845.6(FIG4):c.2296C>G (p.Arg766Gly)
|
rs552937585
|
|
NM_014845.6(FIG4):c.2297G>A (p.Arg766Gln)
|
|
|
NM_014845.6(FIG4):c.2324G>A (p.Arg775His)
|
rs775280287
|
|
NM_014845.6(FIG4):c.2327C>G (p.Ser776Cys)
|
rs760215765
|
|
NM_014845.6(FIG4):c.2329A>C (p.Thr777Pro)
|
rs1778137467
|
|
NM_014845.6(FIG4):c.2376+4C>G
|
|
|
NM_014845.6(FIG4):c.2376+4C>T
|
|
|
NM_014845.6(FIG4):c.2376+5G>C
|
rs528952794
|
|
NM_014845.6(FIG4):c.2378A>C (p.Asn793Thr)
|
|
|
NM_014845.6(FIG4):c.2433AGA[2] (p.Glu813del)
|
rs876661144
|
|
NM_014845.6(FIG4):c.2443T>C (p.Phe815Leu)
|
|
|
NM_014845.6(FIG4):c.2445C>G (p.Phe815Leu)
|
|
|
NM_014845.6(FIG4):c.2459G>T (p.Arg820Ile)
|
|
|
NM_014845.6(FIG4):c.2460-10T>C
|
rs749053854
|
|
NM_014845.6(FIG4):c.2460-12T>A
|
rs1264436643
|
|
NM_014845.6(FIG4):c.2460-5T>A
|
|
|
NM_014845.6(FIG4):c.2485C>T (p.His829Tyr)
|
rs1778299963
|
|
NM_014845.6(FIG4):c.2546+5G>A
|
rs1060501401
|
|
NM_014845.6(FIG4):c.2547-3T>A
|
rs537171532
|
|
NM_014845.6(FIG4):c.2551C>T (p.Pro851Ser)
|
rs773347231
|
|
NM_014845.6(FIG4):c.2559_2560delinsAT (p.Ala854Ser)
|
rs2128402653
|
|
NM_014845.6(FIG4):c.2582A>G (p.Tyr861Cys)
|
rs2128402659
|
|
NM_014845.6(FIG4):c.2591A>G (p.Gln864Arg)
|
rs539773516
|
|
NM_014845.6(FIG4):c.2607C>G (p.Asp869Glu)
|
|
|
NM_014845.6(FIG4):c.2623A>T (p.Ile875Phe)
|
|
|
NM_014845.6(FIG4):c.2639T>A (p.Ile880Asn)
|
rs746915624
|
|
NM_014845.6(FIG4):c.263G>T (p.Arg88Leu)
|
|
|
NM_014845.6(FIG4):c.2645C>A (p.Ala882Asp)
|
rs2128402682
|
|
NM_014845.6(FIG4):c.2653G>A (p.Gly885Ser)
|
rs2128402684
|
|
NM_014845.6(FIG4):c.2662C>T (p.Gln888Ter)
|
rs1306576733
|
|
NM_014845.6(FIG4):c.2669T>G (p.Leu890Arg)
|
rs2128402689
|
|
NM_014845.6(FIG4):c.2672G>A (p.Gly891Glu)
|
|
|
NM_014845.6(FIG4):c.2680G>A (p.Asp894Asn)
|
|
|
NM_014845.6(FIG4):c.2714G>A (p.Arg905His)
|
rs780921285
|
|
NM_014845.6(FIG4):c.281G>A (p.Gly94Asp)
|
rs1775437078
|
|
NM_014845.6(FIG4):c.299G>T (p.Arg100Met)
|
|
|
NM_014845.6(FIG4):c.29G>A (p.Ser10Asn)
|
rs979929537
|
|
NM_014845.6(FIG4):c.301T>C (p.Phe101Leu)
|
rs1209947403
|
|
NM_014845.6(FIG4):c.314A>G (p.Tyr105Cys)
|
|
|
NM_014845.6(FIG4):c.326TAA[1] (p.Ile110del)
|
|
|
NM_014845.6(FIG4):c.337A>C (p.Arg113=)
|
|
|
NM_014845.6(FIG4):c.359G>A (p.Gly120Glu)
|
rs1775846393
|
|
NM_014845.6(FIG4):c.38A>G (p.Gln13Arg)
|
rs1774392570
|
|
NM_014845.6(FIG4):c.395T>G (p.Met132Arg)
|
|
|
NM_014845.6(FIG4):c.397A>G (p.Ile133Val)
|
rs777011122
|
|
NM_014845.6(FIG4):c.3_23dup (p.Met1_Pro7dup)
|
rs1462234190
|
|
NM_014845.6(FIG4):c.401A>G (p.Tyr134Cys)
|
rs571563767
|
|
NM_014845.6(FIG4):c.413A>G (p.Asp138Gly)
|
rs1775848896
|
|
NM_014845.6(FIG4):c.414T>A (p.Asp138Glu)
|
rs1562648534
|
|
NM_014845.6(FIG4):c.434C>T (p.Pro145Leu)
|
rs1775849908
|
|
NM_014845.6(FIG4):c.446+3A>G
|
rs201642753
|
|
NM_014845.6(FIG4):c.447-565_447-564inv
|
|
|
NM_014845.6(FIG4):c.449A>G (p.Tyr150Cys)
|
rs1233666827
|
|
NM_014845.6(FIG4):c.475C>G (p.Leu159Val)
|
|
|
NM_014845.6(FIG4):c.485A>T (p.Asn162Ile)
|
rs2128385214
|
|
NM_014845.6(FIG4):c.497G>A (p.Ser166Asn)
|
|
|
NM_014845.6(FIG4):c.506A>G (p.Tyr169Cys)
|
|
|
NM_014845.6(FIG4):c.512_514del (p.Leu171del)
|
rs763532476
|
|
NM_014845.6(FIG4):c.527A>G (p.Gln176Arg)
|
rs1776123608
|
|
NM_014845.6(FIG4):c.533A>C (p.Asn178Thr)
|
|
|
NM_014845.6(FIG4):c.535C>G (p.Leu179Val)
|
rs141116831
|
|
NM_014845.6(FIG4):c.539C>T (p.Thr180Ile)
|
|
|
NM_014845.6(FIG4):c.553C>A (p.Pro185Thr)
|
|
|
NM_014845.6(FIG4):c.57G>C (p.Glu19Asp)
|
rs2128375315
|
|
NM_014845.6(FIG4):c.590G>A (p.Arg197His)
|
|
|
NM_014845.6(FIG4):c.590G>T (p.Arg197Leu)
|
rs543462663
|
|
NM_014845.6(FIG4):c.592C>G (p.Gln198Glu)
|
|
|
NM_014845.6(FIG4):c.61A>G (p.Arg21Gly)
|
|
|
NM_014845.6(FIG4):c.62G>A (p.Arg21Lys)
|
rs1041331138
|
|
NM_014845.6(FIG4):c.676A>G (p.Met226Val)
|
|
|
NM_014845.6(FIG4):c.67A>G (p.Arg23Gly)
|
rs1775386814
|
|
NM_014845.6(FIG4):c.725T>C (p.Val242Ala)
|
|
|
NM_014845.6(FIG4):c.756T>G (p.His252Gln)
|
|
|
NM_014845.6(FIG4):c.760T>C (p.Phe254Leu)
|
rs2128386168
|
|
NM_014845.6(FIG4):c.775+5C>G
|
rs1776227879
|
|
NM_014845.6(FIG4):c.7A>T (p.Thr3Ser)
|
|
|
NM_014845.6(FIG4):c.803A>G (p.Tyr268Cys)
|
|
|
NM_014845.6(FIG4):c.805G>T (p.Val269Phe)
|
rs1474263523
|
|
NM_014845.6(FIG4):c.848G>A (p.Arg283His)
|
rs1562655830
|
|
NM_014845.6(FIG4):c.865G>A (p.Ala289Thr)
|
rs1776324068
|
|
NM_014845.6(FIG4):c.892G>C (p.Glu298Gln)
|
|
|
NM_014845.6(FIG4):c.911T>C (p.Ile304Thr)
|
|
|
NM_014845.6(FIG4):c.915C>T (p.Leu305=)
|
|
|
NM_014845.6(FIG4):c.935C>G (p.Ser312Cys)
|
|
|
NM_014845.6(FIG4):c.962A>G (p.Tyr321Cys)
|
|
|
NM_014845.6(FIG4):c.976G>A (p.Gly326Arg)
|
rs778157600
|
|
NM_014845.6(FIG4):c.998C>T (p.Ser333Phe)
|
|
|
NM_014874.4(MFN2):c.1003A>G (p.Met335Val)
|
rs1557527886
|
|
NM_014874.4(MFN2):c.1024G>C (p.Glu342Gln)
|
rs1557527906
|
|
NM_014874.4(MFN2):c.1039-12T>C
|
|
|
NM_014874.4(MFN2):c.1042T>C (p.Cys348Arg)
|
rs1639195979
|
|
NM_014874.4(MFN2):c.1061T>G (p.Val354Gly)
|
rs1057518235
|
|
NM_014874.4(MFN2):c.1064_1066del (p.Lys355del)
|
rs1569853941
|
|
NM_014874.4(MFN2):c.1065G>T (p.Lys355Asn)
|
|
|
NM_014874.4(MFN2):c.1067C>A (p.Thr356Asn)
|
rs1569853976
|
|
NM_014874.4(MFN2):c.1090C>A (p.Arg364=)
|
rs119103265
|
|
NM_014874.4(MFN2):c.1094C>T (p.Ala365Val)
|
rs868500000
|
|
NM_014874.4(MFN2):c.10C>T (p.Leu4Phe)
|
|
|
NM_014874.4(MFN2):c.1102A>G (p.Ile368Val)
|
|
|
NM_014874.4(MFN2):c.1121T>G (p.Leu374Arg)
|
|
|
NM_014874.4(MFN2):c.1136T>C (p.Leu379Pro)
|
rs1064797107
|
|
NM_014874.4(MFN2):c.113A>T (p.Lys38Met)
|
|
|
NM_014874.4(MFN2):c.1141A>G (p.Met381Val)
|
rs762210837
|
|
NM_014874.4(MFN2):c.1141A>T (p.Met381Leu)
|
rs762210837
|
|
NM_014874.4(MFN2):c.1150C>G (p.Arg384Gly)
|
|
|
NM_014874.4(MFN2):c.1151G>A (p.Arg384Gln)
|
rs565042936
|
|
NM_014874.4(MFN2):c.1161G>C (p.Gln387His)
|
|
|
NM_014874.4(MFN2):c.1161G>T (p.Gln387His)
|
rs2100847056
|
|
NM_014874.4(MFN2):c.1168T>C (p.Cys390Arg)
|
rs1569859647
|
|
NM_014874.4(MFN2):c.118A>C (p.Asn40His)
|
rs1026123951
|
|
NM_014874.4(MFN2):c.118A>G (p.Asn40Asp)
|
rs1026123951
|
|
NM_014874.4(MFN2):c.1210A>G (p.Ile404Val)
|
|
|
NM_014874.4(MFN2):c.1220A>G (p.Gln407Arg)
|
rs1639295881
|
|
NM_014874.4(MFN2):c.1221G>T (p.Gln407His)
|
rs1279266159
|
|
NM_014874.4(MFN2):c.1225G>C (p.Glu409Gln)
|
|
|
NM_014874.4(MFN2):c.1228C>A (p.Leu410Ile)
|
|
|
NM_014874.4(MFN2):c.122G>A (p.Gly41Asp)
|
rs2100802868
|
|
NM_014874.4(MFN2):c.1241A>T (p.Asp414Val)
|
rs1569860081
|
|
NM_014874.4(MFN2):c.1243T>C (p.Tyr415His)
|
|
|
NM_014874.4(MFN2):c.1244A>G (p.Tyr415Cys)
|
rs1278360900
|
|
NM_014874.4(MFN2):c.1247A>T (p.Lys416Met)
|
rs1639297626
|
|
NM_014874.4(MFN2):c.1252C>G (p.Arg418Gly)
|
|
|
NM_014874.4(MFN2):c.1253G>T (p.Arg418Leu)
|
rs766998571
|
|
NM_014874.4(MFN2):c.1268C>T (p.Thr423Met)
|
rs8192303
|
|
NM_014874.4(MFN2):c.1271A>G (p.Glu424Gly)
|
rs1557530247
|
|
NM_014874.4(MFN2):c.1284G>T (p.Arg428Ser)
|
rs2100847602
|
|
NM_014874.4(MFN2):c.1287+4A>G
|
rs1162804216
|
|
NM_014874.4(MFN2):c.1287+6A>G
|
rs778274550
|
|
NM_014874.4(MFN2):c.1288G>A (p.Val430Met)
|
|
|
NM_014874.4(MFN2):c.1301T>A (p.Met434Lys)
|
|
|
NM_014874.4(MFN2):c.1306G>A (p.Glu436Lys)
|
|
|
NM_014874.4(MFN2):c.1306GAG[1] (p.Glu437del)
|
rs766213721
|
|
NM_014874.4(MFN2):c.1319G>A (p.Arg440His)
|
|
|
NM_014874.4(MFN2):c.1322T>C (p.Leu441Pro)
|
rs1557530701
|
|
NM_014874.4(MFN2):c.1327G>A (p.Val443Ile)
|
rs780450613
|
|
NM_014874.4(MFN2):c.1327G>C (p.Val443Leu)
|
|
|
NM_014874.4(MFN2):c.1330C>G (p.Leu444Val)
|
rs1639318979
|
|
NM_014874.4(MFN2):c.1331T>C (p.Leu444Pro)
|
rs1569861490
|
|
NM_014874.4(MFN2):c.1333G>A (p.Val445Met)
|
rs1639319467
|
|
NM_014874.4(MFN2):c.1339G>A (p.Asp447Asn)
|
rs368032696
|
|
NM_014874.4(MFN2):c.1357C>T (p.His453Tyr)
|
|
|
NM_014874.4(MFN2):c.1360C>A (p.Pro454Thr)
|
|
|
NM_014874.4(MFN2):c.1375C>T (p.Leu459Phe)
|
rs1639321356
|
|
NM_014874.4(MFN2):c.1385A>G (p.Tyr462Cys)
|
rs2100849130
|
|
NM_014874.4(MFN2):c.1392+3G>A
|
|
|
NM_014874.4(MFN2):c.1406A>G (p.His469Arg)
|
|
|
NM_014874.4(MFN2):c.140G>C (p.Gly47Ala)
|
rs1263406133
|
|
NM_014874.4(MFN2):c.1427G>A (p.Arg476Gln)
|
|
|
NM_014874.4(MFN2):c.142G>A (p.Ala48Thr)
|
|
|
NM_014874.4(MFN2):c.1433T>C (p.Met478Thr)
|
|
|
NM_014874.4(MFN2):c.1434G>A (p.Met478Ile)
|
|
|
NM_014874.4(MFN2):c.1436C>G (p.Ser479Cys)
|
rs1639333679
|
|
NM_014874.4(MFN2):c.1447T>C (p.Ser483Pro)
|
rs1639334188
|
|
NM_014874.4(MFN2):c.1448C>T (p.Ser483Phe)
|
|
|
NM_014874.4(MFN2):c.1454C>T (p.Ala485Val)
|
|
|
NM_014874.4(MFN2):c.1489A>G (p.Met497Val)
|
rs2100850292
|
|
NM_014874.4(MFN2):c.1493T>C (p.Ile498Thr)
|
|
|
NM_014874.4(MFN2):c.1495+3_1495+6dup
|
rs2100850333
|
|
NM_014874.4(MFN2):c.1496-8C>G
|
rs1639377731
|
|
NM_014874.4(MFN2):c.1496A>T (p.Asp499Val)
|
|
|
NM_014874.4(MFN2):c.1498G>A (p.Gly500Ser)
|
rs1639378150
|
|
NM_014874.4(MFN2):c.1502T>C (p.Leu501Ser)
|
|
|
NM_014874.4(MFN2):c.1511T>C (p.Leu504Pro)
|
rs1553145023
|
|
NM_014874.4(MFN2):c.1516C>T (p.Pro506Ser)
|
|
|
NM_014874.4(MFN2):c.1523C>G (p.Ser508Cys)
|
|
|
NM_014874.4(MFN2):c.1525G>A (p.Val509Met)
|
|
|
NM_014874.4(MFN2):c.1525G>T (p.Val509Leu)
|
rs945014959
|
|
NM_014874.4(MFN2):c.1535A>G (p.Gln512Arg)
|
rs2100852773
|
|
NM_014874.4(MFN2):c.1555C>T (p.Arg519Cys)
|
rs369140232
|
|
NM_014874.4(MFN2):c.1570C>T (p.Leu524Phe)
|
rs866494871
|
|
NM_014874.4(MFN2):c.1573A>G (p.Asn525Asp)
|
|
|
NM_014874.4(MFN2):c.1588T>C (p.Cys530Arg)
|
|
|
NM_014874.4(MFN2):c.1598T>C (p.Leu533Pro)
|
|
|
NM_014874.4(MFN2):c.1601G>A (p.Cys534Tyr)
|
|
|
NM_014874.4(MFN2):c.1612C>G (p.Gln538Glu)
|
|
|
NM_014874.4(MFN2):c.161C>T (p.Ala54Val)
|
|
|
NM_014874.4(MFN2):c.1621A>G (p.Ile541Val)
|
rs1639383535
|
|
NM_014874.4(MFN2):c.1625A>C (p.Glu542Ala)
|
|
|
NM_014874.4(MFN2):c.1629C>G (p.Phe543Leu)
|
rs2100853178
|
|
NM_014874.4(MFN2):c.1631A>G (p.His544Arg)
|
rs1639384043
|
|
NM_014874.4(MFN2):c.1642G>A (p.Gly548Arg)
|
rs373368672
|
|
NM_014874.4(MFN2):c.1642G>C (p.Gly548Arg)
|
|
|
NM_014874.4(MFN2):c.1649C>A (p.Thr550Asn)
|
rs2100853288
|
|
NM_014874.4(MFN2):c.1651A>G (p.Met551Val)
|
rs2100853294
|
|
NM_014874.4(MFN2):c.1653G>A (p.Met551Ile)
|
rs1553145126
|
|
NM_014874.4(MFN2):c.1654C>G (p.Leu552Val)
|
|
|
NM_014874.4(MFN2):c.1664G>C (p.Arg555Thr)
|
|
|
NM_014874.4(MFN2):c.1682A>C (p.Asn561Thr)
|
rs778719488
|
|
NM_014874.4(MFN2):c.1690C>G (p.Arg564Gly)
|
|
|
NM_014874.4(MFN2):c.1690C>T (p.Arg564Trp)
|
|
|
NM_014874.4(MFN2):c.1693G>A (p.Ala565Thr)
|
rs1639388309
|
|
NM_014874.4(MFN2):c.1694C>A (p.Ala565Asp)
|
rs770243526
|
|
NM_014874.4(MFN2):c.1698G>C (p.Leu566Phe)
|
rs1557532315
|
|
NM_014874.4(MFN2):c.1699A>G (p.Met567Val)
|
rs863224067
|
|
NM_014874.4(MFN2):c.1708A>G (p.Asn570Asp)
|
|
|
NM_014874.4(MFN2):c.1713C>G (p.Asp571Glu)
|
|
|
NM_014874.4(MFN2):c.1716+5G>A
|
rs1639389952
|
|
NM_014874.4(MFN2):c.1716+6C>G
|
rs1569866132
|
|
NM_014874.4(MFN2):c.1717G>A (p.Val573Ile)
|
|
|
NM_014874.4(MFN2):c.1717G>C (p.Val573Leu)
|
|
|
NM_014874.4(MFN2):c.1723C>T (p.Arg575Cys)
|
rs786204244
|
|
NM_014874.4(MFN2):c.1727C>T (p.Pro576Leu)
|
|
|
NM_014874.4(MFN2):c.1739C>T (p.Thr580Met)
|
|
|
NM_014874.4(MFN2):c.175+5G>A
|
|
|
NM_014874.4(MFN2):c.175+6G>T
|
rs762489839
|
|
NM_014874.4(MFN2):c.1753A>C (p.Ser585Arg)
|
|
|
NM_014874.4(MFN2):c.1755C>G (p.Ser585Arg)
|
rs1335576013
|
|
NM_014874.4(MFN2):c.1758G>A (p.Met586Ile)
|
|
|
NM_014874.4(MFN2):c.1759C>A (p.Pro587Thr)
|
rs771675874
|
|
NM_014874.4(MFN2):c.176-14A>G
|
|
|
NM_014874.4(MFN2):c.176-3C>T
|
rs975369655
|
|
NM_014874.4(MFN2):c.1763C>T (p.Pro588Leu)
|
rs1639428648
|
|
NM_014874.4(MFN2):c.1775G>A (p.Gly592Asp)
|
|
|
NM_014874.4(MFN2):c.1777T>A (p.Ser593Thr)
|
rs1639429397
|
|
NM_014874.4(MFN2):c.1780C>A (p.Leu594Ile)
|
rs1280803045
|
|
NM_014874.4(MFN2):c.1807A>G (p.Met603Val)
|
|
|
NM_014874.4(MFN2):c.1810G>A (p.Val604Ile)
|
rs1553145384
|
|
NM_014874.4(MFN2):c.1823C>T (p.Ala608Val)
|
rs1060501924
|
|
NM_014874.4(MFN2):c.1834T>A (p.Ser612Thr)
|
rs2100856360
|
|
NM_014874.4(MFN2):c.1846A>G (p.Met616Val)
|
rs753132224
|
|
NM_014874.4(MFN2):c.1846A>T (p.Met616Leu)
|
rs753132224
|
|
NM_014874.4(MFN2):c.1847T>C (p.Met616Thr)
|
|
|
NM_014874.4(MFN2):c.1856TTG[2] (p.Val621del)
|
|
|
NM_014874.4(MFN2):c.1858G>C (p.Val620Leu)
|
|
|
NM_014874.4(MFN2):c.1859T>C (p.Val620Ala)
|
|
|
NM_014874.4(MFN2):c.1861G>A (p.Val621Ile)
|
rs1639433425
|
|
NM_014874.4(MFN2):c.1862T>C (p.Val621Ala)
|
|
|
NM_014874.4(MFN2):c.1872+13T>G
|
|
|
NM_014874.4(MFN2):c.1872+5G>A
|
|
|
NM_014874.4(MFN2):c.1879A>G (p.Lys627Glu)
|
rs1163976600
|
|
NM_014874.4(MFN2):c.1909T>G (p.Ser637Ala)
|
|
|
NM_014874.4(MFN2):c.1910C>T (p.Ser637Phe)
|
rs1569870801
|
|
NM_014874.4(MFN2):c.1915G>C (p.Gly639Arg)
|
rs2100858120
|
|
NM_014874.4(MFN2):c.1918C>A (p.Leu640Ile)
|
|
|
NM_014874.4(MFN2):c.1918C>T (p.Leu640Phe)
|
rs764683093
|
|
NM_014874.4(MFN2):c.1921T>G (p.Tyr641Asp)
|
rs1569870930
|
|
NM_014874.4(MFN2):c.1927CTC[1] (p.Leu644del)
|
rs2100858186
|
|
NM_014874.4(MFN2):c.1936G>A (p.Val646Ile)
|
rs754683866
|
|
NM_014874.4(MFN2):c.1936G>C (p.Val646Leu)
|
rs754683866
|
|
NM_014874.4(MFN2):c.1952C>G (p.Thr651Ser)
|
rs746502519
|
|
NM_014874.4(MFN2):c.195A>C (p.Glu65Asp)
|
rs1297357606
|
|
NM_014874.4(MFN2):c.1966G>A (p.Ala656Thr)
|
|
|
NM_014874.4(MFN2):c.1974G>C (p.Glu658Asp)
|
rs2100858415
|
|
NM_014874.4(MFN2):c.1975A>G (p.Arg659Gly)
|
|
|
NM_014874.4(MFN2):c.1979C>T (p.Ala660Val)
|
rs377090439
|
|
NM_014874.4(MFN2):c.1988G>A (p.Arg663His)
|
rs766735605
|
|
NM_014874.4(MFN2):c.1988G>C (p.Arg663Pro)
|
rs766735605
|
|
NM_014874.4(MFN2):c.2003A>G (p.His668Arg)
|
rs747947098
|
|
NM_014874.4(MFN2):c.2016G>C (p.Lys672Asn)
|
|
|
NM_014874.4(MFN2):c.2017C>A (p.Leu673Met)
|
rs2100858641
|
|
NM_014874.4(MFN2):c.2018T>C (p.Leu673Pro)
|
rs1569871653
|
|
NM_014874.4(MFN2):c.2042G>C (p.Gly681Ala)
|
|
|
NM_014874.4(MFN2):c.2055CCA[1] (p.His686del)
|
|
|
NM_014874.4(MFN2):c.2068C>G (p.Gln690Glu)
|
rs1218249174
|
|
NM_014874.4(MFN2):c.2069+4A>G
|
rs2100858892
|
|
NM_014874.4(MFN2):c.2093A>T (p.His698Leu)
|
rs1060501916
|
|
NM_014874.4(MFN2):c.2096_2101del (p.Leu699_Cys700del)
|
rs2100868068
|
|
NM_014874.4(MFN2):c.20G>T (p.Arg7Leu)
|
|
|
NM_014874.4(MFN2):c.2108T>C (p.Val703Ala)
|
rs879253944
|
|
NM_014874.4(MFN2):c.211A>G (p.Thr71Ala)
|
rs548809273
|
|
NM_014874.4(MFN2):c.2120G>A (p.Arg707Gln)
|
|
|
NM_014874.4(MFN2):c.2123A>G (p.Glu708Gly)
|
rs1557537210
|
|
NM_014874.4(MFN2):c.2125_2133del (p.Asn709_Glu711del)
|
|
|
NM_014874.4(MFN2):c.2133G>T (p.Glu711Asp)
|
rs1486405515
|
|
NM_014874.4(MFN2):c.2146G>C (p.Ala716Pro)
|
rs144860227
|
|
NM_014874.4(MFN2):c.2146G>T (p.Ala716Ser)
|
rs144860227
|
|
NM_014874.4(MFN2):c.2151G>A (p.Met717Ile)
|
rs1639602553
|
|
NM_014874.4(MFN2):c.2156A>G (p.Lys719Arg)
|
rs2100868327
|
|
NM_014874.4(MFN2):c.2159A>T (p.Lys720Ile)
|
rs2100868363
|
|
NM_014874.4(MFN2):c.2186G>C (p.Ser729Thr)
|
|
|
NM_014874.4(MFN2):c.2187C>A (p.Ser729Arg)
|
|
|
NM_014874.4(MFN2):c.2189A>G (p.Lys730Arg)
|
rs1373071856
|
|
NM_014874.4(MFN2):c.2190A>T (p.Lys730Asn)
|
rs1569883217
|
|
NM_014874.4(MFN2):c.2195A>G (p.Lys732Arg)
|
|
|
NM_014874.4(MFN2):c.2200C>G (p.Leu734Val)
|
rs900143738
|
|
NM_014874.4(MFN2):c.2205G>A (p.Arg735=)
|
rs757975290
|
|
NM_014874.4(MFN2):c.2218T>A (p.Trp740Arg)
|
rs1557539004
|
|
NM_014874.4(MFN2):c.2219G>T (p.Trp740Leu)
|
|
|
NM_014874.4(MFN2):c.221A>G (p.Gln74Arg)
|
rs1569815882
|
|
NM_014874.4(MFN2):c.2224G>C (p.Asp742His)
|
|
|
NM_014874.4(MFN2):c.2227A>G (p.Ser743Gly)
|
rs1553146561
|
|
NM_014874.4(MFN2):c.2228G>A (p.Ser743Asn)
|
rs1639696930
|
|
NM_014874.4(MFN2):c.2232G>T (p.Glu744Asp)
|
rs756693072
|
|
NM_014874.4(MFN2):c.2234T>G (p.Leu745Arg)
|
rs1553146569
|
|
NM_014874.4(MFN2):c.2239A>T (p.Met747Leu)
|
rs1259403735
|
|
NM_014874.4(MFN2):c.223G>A (p.Val75Ile)
|
|
|
NM_014874.4(MFN2):c.2240T>G (p.Met747Arg)
|
rs879254059
|
|
NM_014874.4(MFN2):c.2243T>G (p.Phe748Cys)
|
rs2100874709
|
|
NM_014874.4(MFN2):c.2249A>C (p.His750Pro)
|
rs1569890311
|
|
NM_014874.4(MFN2):c.2249A>G (p.His750Arg)
|
|
|
NM_014874.4(MFN2):c.2258T>C (p.Leu753Pro)
|
rs1639699426
|
|
NM_014874.4(MFN2):c.2260C>T (p.Gln754Ter)
|
rs868571112
|
|
NM_014874.4(MFN2):c.2270G>C (p.Arg757Thr)
|
|
|
NM_014874.4(MFN2):c.22T>C (p.Cys8Arg)
|
rs1342700068
|
|
NM_014874.4(MFN2):c.239G>C (p.Gly80Ala)
|
rs139827903
|
|
NM_014874.4(MFN2):c.239G>T (p.Gly80Val)
|
rs139827903
|
|
NM_014874.4(MFN2):c.248C>G (p.Ser83Cys)
|
rs372451582
|
|
NM_014874.4(MFN2):c.24C>G (p.Cys8Trp)
|
|
|
NM_014874.4(MFN2):c.254_256dup (p.Val85_Arg86insMet)
|
rs1638738352
|
|
NM_014874.4(MFN2):c.271G>T (p.Val91Leu)
|
rs1557519001
|
|
NM_014874.4(MFN2):c.284G>A (p.Arg95Lys)
|
rs1638740596
|
|
NM_014874.4(MFN2):c.288C>A (p.His96Gln)
|
rs779756767
|
|
NM_014874.4(MFN2):c.288C>G (p.His96Gln)
|
|
|
NM_014874.4(MFN2):c.29C>G (p.Ser10Cys)
|
rs757982521
|
|
NM_014874.4(MFN2):c.307G>A (p.Gly103Ser)
|
|
|
NM_014874.4(MFN2):c.312-3T>A
|
|
|
NM_014874.4(MFN2):c.319A>G (p.Asn107Asp)
|
rs1569829556
|
|
NM_014874.4(MFN2):c.321T>G (p.Asn107Lys)
|
rs1638897505
|
|
NM_014874.4(MFN2):c.332C>T (p.Thr111Ile)
|
rs1638898105
|
|
NM_014874.4(MFN2):c.341A>G (p.Asn114Ser)
|
|
|
NM_014874.4(MFN2):c.347T>C (p.Met116Thr)
|
rs1569829691
|
|
NM_014874.4(MFN2):c.349C>G (p.Leu117Val)
|
|
|
NM_014874.4(MFN2):c.373G>A (p.Gly125Arg)
|
rs1569829787
|
|
NM_014874.4(MFN2):c.374G>A (p.Gly125Glu)
|
rs1638900244
|
|
NM_014874.4(MFN2):c.382C>A (p.His128Asn)
|
rs2100822486
|
|
NM_014874.4(MFN2):c.383A>C (p.His128Pro)
|
rs1569829894
|
|
NM_014874.4(MFN2):c.384C>G (p.His128Gln)
|
rs770767909
|
|
NM_014874.4(MFN2):c.386C>T (p.Thr129Ile)
|
rs1060501919
|
|
NM_014874.4(MFN2):c.406G>T (p.Val136Leu)
|
|
|
NM_014874.4(MFN2):c.411G>C (p.Glu137Asp)
|
rs2100822641
|
|
NM_014874.4(MFN2):c.452C>T (p.Ser151Leu)
|
rs2100822731
|
|
NM_014874.4(MFN2):c.462GAG[1] (p.Arg155del)
|
|
|
NM_014874.4(MFN2):c.462_463delinsTT (p.Lys154_Arg155delinsAsnTrp)
|
rs2100822768
|
|
NM_014874.4(MFN2):c.463A>G (p.Arg155Gly)
|
|
|
NM_014874.4(MFN2):c.466A>G (p.Ser156Gly)
|
rs1638905291
|
|
NM_014874.4(MFN2):c.469G>A (p.Ala157Thr)
|
|
|
NM_014874.4(MFN2):c.469_470delinsTT (p.Ala157Phe)
|
|
|
NM_014874.4(MFN2):c.475-5_475-2dup
|
|
|
NM_014874.4(MFN2):c.475A>C (p.Thr159Pro)
|
|
|
NM_014874.4(MFN2):c.479T>C (p.Val160Ala)
|
rs879253861
|
|
NM_014874.4(MFN2):c.486G>C (p.Gln162His)
|
|
|
NM_014874.4(MFN2):c.486_494del (p.Gln162_Ala164del)
|
|
|
NM_014874.4(MFN2):c.488T>C (p.Leu163Pro)
|
rs2100826124
|
|
NM_014874.4(MFN2):c.508G>T (p.Asp170Tyr)
|
|
|
NM_014874.4(MFN2):c.518T>C (p.Leu173Pro)
|
rs2100826229
|
|
NM_014874.4(MFN2):c.524C>T (p.Ala175Val)
|
|
|
NM_014874.4(MFN2):c.548G>T (p.Trp183Leu)
|
rs2100826348
|
|
NM_014874.4(MFN2):c.550C>G (p.Pro184Ala)
|
rs1638959309
|
|
NM_014874.4(MFN2):c.569T>C (p.Leu190Pro)
|
rs1553142726
|
|
NM_014874.4(MFN2):c.57A>T (p.Arg19Ser)
|
|
|
NM_014874.4(MFN2):c.592A>C (p.Met198Leu)
|
|
|
NM_014874.4(MFN2):c.592A>T (p.Met198Leu)
|
rs1569835123
|
|
NM_014874.4(MFN2):c.597C>G (p.Asp199Glu)
|
rs1205882839
|
|
NM_014874.4(MFN2):c.601C>T (p.Pro201Ser)
|
rs1639041254
|
|
NM_014874.4(MFN2):c.604G>A (p.Gly202Ser)
|
|
|
NM_014874.4(MFN2):c.614T>C (p.Val205Ala)
|
rs1639042915
|
|
NM_014874.4(MFN2):c.624G>T (p.Glu208Asp)
|
rs1162977959
|
|
NM_014874.4(MFN2):c.626T>G (p.Leu209Arg)
|
rs1639043428
|
|
NM_014874.4(MFN2):c.64G>T (p.Ala22Ser)
|
rs1178355950
|
|
NM_014874.4(MFN2):c.657T>G (p.Asp219Glu)
|
rs878854989
|
|
NM_014874.4(MFN2):c.661G>A (p.Asp221Asn)
|
rs1569842525
|
|
NM_014874.4(MFN2):c.661G>C (p.Asp221His)
|
rs1569842525
|
|
NM_014874.4(MFN2):c.676G>A (p.Val226Met)
|
rs1569842610
|
|
NM_014874.4(MFN2):c.677_688del (p.Val226_Ser229del)
|
rs1569842627
|
|
NM_014874.4(MFN2):c.690G>C (p.Glu230Asp)
|
rs1569842685
|
|
NM_014874.4(MFN2):c.695C>A (p.Thr232Asn)
|
rs1569842764
|
|
NM_014874.4(MFN2):c.700A>C (p.Met234Leu)
|
rs2100831955
|
|
NM_014874.4(MFN2):c.703C>G (p.Gln235Glu)
|
rs879254210
|
|
NM_014874.4(MFN2):c.708G>A (p.Thr236=)
|
rs1557524867
|
|
NM_014874.4(MFN2):c.721T>C (p.Phe241Leu)
|
|
|
NM_014874.4(MFN2):c.731T>C (p.Val244Ala)
|
rs1060501921
|
|
NM_014874.4(MFN2):c.738G>C (p.Glu246Asp)
|
rs2100832455
|
|
NM_014874.4(MFN2):c.751C>T (p.Pro251Ser)
|
rs28940295
|
|
NM_014874.4(MFN2):c.764T>C (p.Ile255Thr)
|
|
|
NM_014874.4(MFN2):c.773A>G (p.Asn258Ser)
|
rs1639058625
|
|
NM_014874.4(MFN2):c.790_791delinsTT (p.Ala264Phe)
|
rs2100832738
|
|
NM_014874.4(MFN2):c.796G>A (p.Glu266Lys)
|
rs1569844113
|
|
NM_014874.4(MFN2):c.802G>A (p.Glu268Lys)
|
rs1453267972
|
|
NM_014874.4(MFN2):c.808A>C (p.Met270Leu)
|
rs748318825
|
|
NM_014874.4(MFN2):c.808A>T (p.Met270Leu)
|
rs748318825
|
|
NM_014874.4(MFN2):c.813G>C (p.Glu271Asp)
|
|
|
NM_014874.4(MFN2):c.814G>A (p.Glu272Lys)
|
rs1639061149
|
|
NM_014874.4(MFN2):c.816+5G>A
|
|
|
NM_014874.4(MFN2):c.817G>A (p.Val273Met)
|
rs1639165942
|
|
NM_014874.4(MFN2):c.817G>T (p.Val273Leu)
|
|
|
NM_014874.4(MFN2):c.818T>A (p.Val273Glu)
|
rs1458700065
|
|
NM_014874.4(MFN2):c.821GGC[3] (p.Arg275_Gln276insArg)
|
|
|
NM_014874.4(MFN2):c.825GCA[3] (p.Gln276dup)
|
rs1553143791
|
|
NM_014874.4(MFN2):c.832A>G (p.Met278Val)
|
|
|
NM_014874.4(MFN2):c.834G>A (p.Met278Ile)
|
rs1639167341
|
|
NM_014874.4(MFN2):c.857T>G (p.Val286Gly)
|
|
|
NM_014874.4(MFN2):c.864G>C (p.Glu288Asp)
|
rs1569851796
|
|
NM_014874.4(MFN2):c.866T>C (p.Leu289Pro)
|
|
|
NM_014874.4(MFN2):c.880C>G (p.Arg294Gly)
|
rs866604005
|
|
NM_014874.4(MFN2):c.881G>A (p.Arg294Gln)
|
|
|
NM_014874.4(MFN2):c.887A>G (p.Gln296Arg)
|
|
|
NM_014874.4(MFN2):c.890C>T (p.Ala297Val)
|
|
|
NM_014874.4(MFN2):c.910G>C (p.Val304Leu)
|
rs2100839352
|
|
NM_014874.4(MFN2):c.916G>A (p.Ala306Thr)
|
rs1553143847
|
|
NM_014874.4(MFN2):c.91C>T (p.His31Tyr)
|
rs1553140991
|
|
NM_014874.4(MFN2):c.922G>A (p.Glu308Lys)
|
rs1553143852
|
|
NM_014874.4(MFN2):c.922G>C (p.Glu308Gln)
|
|
|
NM_014874.4(MFN2):c.925G>A (p.Val309Met)
|
|
|
NM_014874.4(MFN2):c.931A>G (p.Asn311Asp)
|
|
|
NM_014874.4(MFN2):c.93C>G (p.His31Gln)
|
|
|
NM_014874.4(MFN2):c.949G>T (p.Ala317Ser)
|
rs2100839494
|
|
NM_014874.4(MFN2):c.950C>G (p.Ala317Gly)
|
rs1639173341
|
|
NM_014874.4(MFN2):c.964G>A (p.Glu322Lys)
|
rs1569852256
|
|
NM_014874.4(MFN2):c.969A>G (p.Gly323=)
|
rs1639174381
|
|
NM_014874.4(MFN2):c.970+5T>G
|
|
|
NM_014874.4(MFN2):c.970+6G>A
|
|
|
NM_014874.4(MFN2):c.971-10A>G
|
|
|
NM_014874.4(MFN2):c.971-8C>T
|
rs780000309
|
|
NM_014874.4(MFN2):c.976G>A (p.Ala326Thr)
|
rs1324564667
|
|
NM_014874.4(MFN2):c.990C>T (p.Gly330=)
|
|
|
NM_014874.4(MFN2):c.997G>A (p.Val333Met)
|
rs1009733171
|
|
NM_015271.5(TRIM2):c.1002del (p.Gly334_Leu335insTer)
|
|
|
NM_015271.5(TRIM2):c.1021_1040del (p.Asn341fs)
|
|
|
NM_015271.5(TRIM2):c.106C>A (p.Pro36Thr)
|
rs769878993
|
|
NM_015271.5(TRIM2):c.1073C>A (p.Thr358Lys)
|
|
|
NM_015271.5(TRIM2):c.1080G>C (p.Glu360Asp)
|
|
|
NM_015271.5(TRIM2):c.1087C>T (p.Arg363Trp)
|
rs768541205
|
|
NM_015271.5(TRIM2):c.1113G>C (p.Met371Ile)
|
|
|
NM_015271.5(TRIM2):c.1114T>A (p.Ser372Thr)
|
|
|
NM_015271.5(TRIM2):c.111T>A (p.Ser37Arg)
|
|
|
NM_015271.5(TRIM2):c.1141G>C (p.Asp381His)
|
|
|
NM_015271.5(TRIM2):c.1162G>A (p.Gly388Ser)
|
|
|
NM_015271.5(TRIM2):c.1196C>A (p.Pro399His)
|
rs781013555
|
|
NM_015271.5(TRIM2):c.1196C>G (p.Pro399Arg)
|
rs781013555
|
|
NM_015271.5(TRIM2):c.1198G>A (p.Asp400Asn)
|
rs1341638291
|
|
NM_015271.5(TRIM2):c.1199A>G (p.Asp400Gly)
|
|
|
NM_015271.5(TRIM2):c.1211_1212delinsGC (p.Ala404Gly)
|
rs2150144886
|
|
NM_015271.5(TRIM2):c.1217G>A (p.Gly406Glu)
|
|
|
NM_015271.5(TRIM2):c.1232A>G (p.Asn411Ser)
|
rs889090777
|
|
NM_015271.5(TRIM2):c.1235A>T (p.Lys412Met)
|
|
|
NM_015271.5(TRIM2):c.1243A>G (p.Thr415Ala)
|
rs111861590
|
|
NM_015271.5(TRIM2):c.125A>C (p.Gln42Pro)
|
|
|
NM_015271.5(TRIM2):c.1289T>G (p.Leu430Arg)
|
|
|
NM_015271.5(TRIM2):c.1298G>A (p.Arg433Lys)
|
|
|
NM_015271.5(TRIM2):c.1319G>A (p.Arg440Gln)
|
rs1762656339
|
|
NM_015271.5(TRIM2):c.1330T>C (p.Phe444Leu)
|
rs1579436975
|
|
NM_015271.5(TRIM2):c.1346T>C (p.Ile449Thr)
|
rs748092770
|
|
NM_015271.5(TRIM2):c.1354G>C (p.Ala452Pro)
|
|
|
NM_015271.5(TRIM2):c.1390C>T (p.Arg464Cys)
|
|
|
NM_015271.5(TRIM2):c.1402C>T (p.Pro468Ser)
|
|
|
NM_015271.5(TRIM2):c.1403C>T (p.Pro468Leu)
|
|
|
NM_015271.5(TRIM2):c.1410C>A (p.Ser470Arg)
|
|
|
NM_015271.5(TRIM2):c.1443del (p.Ala482fs)
|
rs2150145898
|
|
NM_015271.5(TRIM2):c.1444G>A (p.Ala482Thr)
|
|
|
NM_015271.5(TRIM2):c.1444G>T (p.Ala482Ser)
|
|
|
NM_015271.5(TRIM2):c.1445C>G (p.Ala482Gly)
|
rs1762681975
|
|
NM_015271.5(TRIM2):c.1453T>C (p.Tyr485His)
|
|
|
NM_015271.5(TRIM2):c.1459A>G (p.Thr487Ala)
|
|
|
NM_015271.5(TRIM2):c.1500C>G (p.Ile500Met)
|
|
|
NM_015271.5(TRIM2):c.1505G>A (p.Arg502Gln)
|
|
|
NM_015271.5(TRIM2):c.1510+1G>C
|
|
|
NM_015271.5(TRIM2):c.1510+3A>G
|
|
|
NM_015271.5(TRIM2):c.1525A>C (p.Asn509His)
|
|
|
NM_015271.5(TRIM2):c.1534G>C (p.Glu512Gln)
|
|
|
NM_015271.5(TRIM2):c.1565C>G (p.Ser522Cys)
|
rs1767402219
|
|
NM_015271.5(TRIM2):c.1591G>A (p.Asp531Asn)
|
rs2149526920
|
|
NM_015271.5(TRIM2):c.1603C>A (p.Gln535Lys)
|
|
|
NM_015271.5(TRIM2):c.1661G>A (p.Gly554Glu)
|
|
|
NM_015271.5(TRIM2):c.1663C>T (p.Arg555Cys)
|
rs2149528038
|
|
NM_015271.5(TRIM2):c.1664G>A (p.Arg555His)
|
rs755651013
|
|
NM_015271.5(TRIM2):c.167G>A (p.Arg56Gln)
|
rs1418080739
|
|
NM_015271.5(TRIM2):c.167G>T (p.Arg56Leu)
|
|
|
NM_015271.5(TRIM2):c.1712G>T (p.Ser571Ile)
|
|
|
NM_015271.5(TRIM2):c.1720A>G (p.Ile574Val)
|
rs2149528266
|
|
NM_015271.5(TRIM2):c.1746A>G (p.Lys582=)
|
rs759415596
|
|
NM_015271.5(TRIM2):c.1768G>A (p.Asp590Asn)
|
|
|
NM_015271.5(TRIM2):c.1793G>T (p.Gly598Val)
|
rs780090814
|
|
NM_015271.5(TRIM2):c.1834C>A (p.Arg612Ser)
|
|
|
NM_015271.5(TRIM2):c.1838A>G (p.Asn613Ser)
|
rs1579720652
|
|
NM_015271.5(TRIM2):c.1846A>G (p.Ile616Val)
|
rs1561013892
|
|
NM_015271.5(TRIM2):c.1871G>T (p.Cys624Phe)
|
|
|
NM_015271.5(TRIM2):c.1876G>A (p.Val626Met)
|
rs759524701
|
|
NM_015271.5(TRIM2):c.1889A>G (p.Gln630Arg)
|
|
|
NM_015271.5(TRIM2):c.1912A>G (p.Arg638Gly)
|
|
|
NM_015271.5(TRIM2):c.1924C>T (p.Arg642Ter)
|
|
|
NM_015271.5(TRIM2):c.1925G>A (p.Arg642Gln)
|
|
|
NM_015271.5(TRIM2):c.1941G>T (p.Arg647Ser)
|
|
|
NM_015271.5(TRIM2):c.1951+20G>A
|
|
|
NM_015271.5(TRIM2):c.1952-3C>T
|
|
|
NM_015271.5(TRIM2):c.1964C>A (p.Ala655Glu)
|
rs1554002777
|
|
NM_015271.5(TRIM2):c.1967C>A (p.Ala656Asp)
|
|
|
NM_015271.5(TRIM2):c.2006dup (p.His669fs)
|
rs2149564124
|
|
NM_015271.5(TRIM2):c.2022+6A>G
|
|
|
NM_015271.5(TRIM2):c.2033A>G (p.Gln678Arg)
|
rs2149583488
|
|
NM_015271.5(TRIM2):c.2049G>A (p.Met683Ile)
|
rs1579783522
|
|
NM_015271.5(TRIM2):c.2096C>T (p.Pro699Leu)
|
|
|
NM_015271.5(TRIM2):c.2104G>A (p.Val702Ile)
|
|
|
NM_015271.5(TRIM2):c.211G>C (p.Glu71Gln)
|
rs2150035596
|
|
NM_015271.5(TRIM2):c.2130C>G (p.Ile710Met)
|
|
|
NM_015271.5(TRIM2):c.2251G>A (p.Asp751Asn)
|
|
|
NM_015271.5(TRIM2):c.2303G>A (p.Arg768Gln)
|
|
|
NM_015271.5(TRIM2):c.2308_2311del (p.Leu770fs)
|
rs2149608145
|
|
NM_015271.5(TRIM2):c.251C>A (p.Thr84Asn)
|
|
|
NM_015271.5(TRIM2):c.251C>T (p.Thr84Ile)
|
rs745985238
|
|
NM_015271.5(TRIM2):c.262C>T (p.Pro88Ser)
|
|
|
NM_015271.5(TRIM2):c.272G>T (p.Arg91Leu)
|
rs1757929207
|
|
NM_015271.5(TRIM2):c.278C>A (p.Thr93Asn)
|
|
|
NM_015271.5(TRIM2):c.305C>T (p.Ala102Val)
|
rs1579254686
|
|
NM_015271.5(TRIM2):c.307G>A (p.Ala103Thr)
|
|
|
NM_015271.5(TRIM2):c.320A>G (p.Asn107Ser)
|
rs1757940364
|
|
NM_015271.5(TRIM2):c.328A>G (p.Ile110Val)
|
rs1435917917
|
|
NM_015271.5(TRIM2):c.358A>G (p.Thr120Ala)
|
|
|
NM_015271.5(TRIM2):c.373G>A (p.Ala125Thr)
|
|
|
NM_015271.5(TRIM2):c.377A>G (p.Glu126Gly)
|
|
|
NM_015271.5(TRIM2):c.404_405delinsTG (p.Thr135Met)
|
|
|
NM_015271.5(TRIM2):c.415G>C (p.Ala139Pro)
|
rs774018426
|
|
NM_015271.5(TRIM2):c.416C>T (p.Ala139Val)
|
rs1012146710
|
|
NM_015271.5(TRIM2):c.425C>G (p.Pro142Arg)
|
|
|
NM_015271.5(TRIM2):c.425C>T (p.Pro142Leu)
|
|
|
NM_015271.5(TRIM2):c.447T>A (p.Asp149Glu)
|
|
|
NM_015271.5(TRIM2):c.485C>A (p.Thr162Asn)
|
rs1579407719
|
|
NM_015271.5(TRIM2):c.496C>T (p.Arg166Trp)
|
|
|
NM_015271.5(TRIM2):c.511G>A (p.Gly171Arg)
|
rs375213888
|
|
NM_015271.5(TRIM2):c.511G>C (p.Gly171Arg)
|
|
|
NM_015271.5(TRIM2):c.511G>T (p.Gly171Trp)
|
|
|
NM_015271.5(TRIM2):c.512G>C (p.Gly171Ala)
|
rs1553992552
|
|
NM_015271.5(TRIM2):c.520G>T (p.Ala174Ser)
|
rs200706275
|
|
NM_015271.5(TRIM2):c.529C>G (p.Pro177Ala)
|
rs974200179
|
|
NM_015271.5(TRIM2):c.550G>A (p.Val184Met)
|
rs1579408437
|
|
NM_015271.5(TRIM2):c.560A>G (p.Gln187Arg)
|
rs1579408472
|
|
NM_015271.5(TRIM2):c.569C>G (p.Ala190Gly)
|
|
|
NM_015271.5(TRIM2):c.582C>A (p.Val194=)
|
|
|
NM_015271.5(TRIM2):c.592G>T (p.Ala198Ser)
|
|
|
NM_015271.5(TRIM2):c.605+3G>A
|
|
|
NM_015271.5(TRIM2):c.633G>A (p.Gln211=)
|
|
|
NM_015271.5(TRIM2):c.636C>A (p.Phe212Leu)
|
|
|
NM_015271.5(TRIM2):c.644A>G (p.Glu215Gly)
|
|
|
NM_015271.5(TRIM2):c.662C>T (p.Thr221Ile)
|
rs2150138936
|
|
NM_015271.5(TRIM2):c.673G>A (p.Ala225Thr)
|
|
|
NM_015271.5(TRIM2):c.673G>T (p.Ala225Ser)
|
rs775717184
|
|
NM_015271.5(TRIM2):c.688G>T (p.Asp230Tyr)
|
rs1560963959
|
|
NM_015271.5(TRIM2):c.701C>T (p.Thr234Ile)
|
|
|
NM_015271.5(TRIM2):c.722C>A (p.Thr241Asn)
|
|
|
NM_015271.5(TRIM2):c.726A>C (p.Leu242Phe)
|
|
|
NM_015271.5(TRIM2):c.731T>C (p.Val244Ala)
|
|
|
NM_015271.5(TRIM2):c.734G>A (p.Arg245His)
|
|
|
NM_015271.5(TRIM2):c.745C>G (p.Leu249Val)
|
|
|
NM_015271.5(TRIM2):c.794A>G (p.Gln265Arg)
|
|
|
NM_015271.5(TRIM2):c.796T>C (p.Ser266Pro)
|
|
|
NM_015271.5(TRIM2):c.797C>A (p.Ser266Ter)
|
rs746386202
|
|
NM_015271.5(TRIM2):c.805G>C (p.Asp269His)
|
|
|
NM_015271.5(TRIM2):c.822G>T (p.Gly274=)
|
rs747440517
|
|
NM_015271.5(TRIM2):c.830G>A (p.Ser277Asn)
|
rs768739196
|
|
NM_015271.5(TRIM2):c.832A>G (p.Ile278Val)
|
|
|
NM_015271.5(TRIM2):c.842G>A (p.Cys281Tyr)
|
|
|
NM_015271.5(TRIM2):c.85G>T (p.Ala29Ser)
|
|
|
NM_015271.5(TRIM2):c.889G>A (p.Val297Ile)
|
|
|
NM_015271.5(TRIM2):c.912G>A (p.Met304Ile)
|
rs1433319336
|
|
NM_015271.5(TRIM2):c.914G>A (p.Ser305Asn)
|
rs1579432032
|
|
NM_015271.5(TRIM2):c.937G>A (p.Asp313Asn)
|
|
|
NM_015271.5(TRIM2):c.95G>A (p.Gly32Asp)
|
|
|
NM_015271.5(TRIM2):c.970G>A (p.Asp324Asn)
|
|
|
NM_016156.6(MTMR2):c.10A>G (p.Ser4Gly)
|
rs1867038226
|
|
NM_016156.6(MTMR2):c.1118A>G (p.Asn373Ser)
|
rs778906960
|
|
NM_016156.6(MTMR2):c.1140G>C (p.Leu380Phe)
|
rs2135433928
|
|
NM_016156.6(MTMR2):c.1175T>C (p.Ile392Thr)
|
rs1555060014
|
|
NM_016156.6(MTMR2):c.1184T>C (p.Ile395Thr)
|
rs774525225
|
|
NM_016156.6(MTMR2):c.1220A>G (p.Glu407Gly)
|
rs1863726953
|
|
NM_016156.6(MTMR2):c.1221G>C (p.Glu407Asp)
|
|
|
NM_016156.6(MTMR2):c.131T>C (p.Val44Ala)
|
|
|
NM_016156.6(MTMR2):c.1349A>T (p.Glu450Val)
|
|
|
NM_016156.6(MTMR2):c.1351A>G (p.Lys451Glu)
|
|
|
NM_016156.6(MTMR2):c.1363A>C (p.Ser455Arg)
|
rs1590978234
|
|
NM_016156.6(MTMR2):c.1364G>A (p.Ser455Asn)
|
rs1565348037
|
|
NM_016156.6(MTMR2):c.1387-3C>T
|
rs2135417340
|
|
NM_016156.6(MTMR2):c.1411C>T (p.His471Tyr)
|
rs1193305699
|
|
NM_016156.6(MTMR2):c.1457G>C (p.Cys486Ser)
|
rs765313279
|
|
NM_016156.6(MTMR2):c.1462T>C (p.Trp488Arg)
|
|
|
NM_016156.6(MTMR2):c.1531C>T (p.His511Tyr)
|
rs761100126
|
|
NM_016156.6(MTMR2):c.1552G>A (p.Gly518Arg)
|
rs1014132718
|
|
NM_016156.6(MTMR2):c.155C>T (p.Thr52Ile)
|
rs2135548901
|
|
NM_016156.6(MTMR2):c.1562T>A (p.Leu521His)
|
rs1565344022
|
|
NM_016156.6(MTMR2):c.157T>A (p.Ser53Thr)
|
rs2135548895
|
|
NM_016156.6(MTMR2):c.1637G>A (p.Ser546Asn)
|
rs376530848
|
|
NM_016156.6(MTMR2):c.1637G>C (p.Ser546Thr)
|
rs376530848
|
|
NM_016156.6(MTMR2):c.163G>A (p.Asp55Asn)
|
|
|
NM_016156.6(MTMR2):c.1643T>A (p.Leu548Gln)
|
rs2135402121
|
|
NM_016156.6(MTMR2):c.1648G>T (p.Asp550Tyr)
|
rs2135402110
|
|
NM_016156.6(MTMR2):c.1651T>C (p.Phe551Leu)
|
rs1863277955
|
|
NM_016156.6(MTMR2):c.1667A>G (p.Tyr556Cys)
|
|
|
NM_016156.6(MTMR2):c.1682A>C (p.Asn561Thr)
|
|
|
NM_016156.6(MTMR2):c.1721A>G (p.Glu574Gly)
|
rs771548803
|
|
NM_016156.6(MTMR2):c.1723C>G (p.Leu575Val)
|
rs1863269909
|
|
NM_016156.6(MTMR2):c.1756C>G (p.Arg586Gly)
|
|
|
NM_016156.6(MTMR2):c.1756C>T (p.Arg586Trp)
|
|
|
NM_016156.6(MTMR2):c.1763A>C (p.Lys588Thr)
|
rs1863268067
|
|
NM_016156.6(MTMR2):c.1770+3A>T
|
|
|
NM_016156.6(MTMR2):c.1770+4T>C
|
rs1565342479
|
|
NM_016156.6(MTMR2):c.1774C>T (p.Pro592Ser)
|
rs749010549
|
|
NM_016156.6(MTMR2):c.1807A>G (p.Lys603Glu)
|
|
|
NM_016156.6(MTMR2):c.1810C>T (p.Arg604Ter)
|
rs138746296
|
|
NM_016156.6(MTMR2):c.1826A>G (p.Lys609Arg)
|
|
|
NM_016156.6(MTMR2):c.1829_1830dup (p.Val611fs)
|
|
|
NM_016156.6(MTMR2):c.1830dup (p.Val611fs)
|
|
|
NM_016156.6(MTMR2):c.1843C>T (p.Gln615Ter)
|
rs886048770
|
|
NM_016156.6(MTMR2):c.1847G>A (p.Arg616Lys)
|
rs2135399090
|
|
NM_016156.6(MTMR2):c.1851_1852del (p.Glu617fs)
|
rs769866540
|
|
NM_016156.6(MTMR2):c.1852A>C (p.Ile618Leu)
|
rs1392067749
|
|
NM_016156.6(MTMR2):c.1856C>G (p.Ser619Cys)
|
|
|
NM_016156.6(MTMR2):c.186+19_186+20delinsTA
|
|
|
NM_016156.6(MTMR2):c.1862G>C (p.Arg621Pro)
|
rs371925152
|
|
NM_016156.6(MTMR2):c.1867A>G (p.Thr623Ala)
|
rs770755992
|
|
NM_016156.6(MTMR2):c.186G>T (p.Arg62Ser)
|
rs2135548808
|
|
NM_016156.6(MTMR2):c.1876T>A (p.Ser626Thr)
|
|
|
NM_016156.6(MTMR2):c.1879G>A (p.Glu627Lys)
|
rs1863216623
|
|
NM_016156.6(MTMR2):c.1884A>C (p.Arg628Ser)
|
rs747684213
|
|
NM_016156.6(MTMR2):c.1916del (p.Val639fs)
|
rs779740723
|
|
NM_016156.6(MTMR2):c.20_21delinsTT (p.Cys7Phe)
|
rs1867037031
|
|
NM_016156.6(MTMR2):c.223G>C (p.Glu75Gln)
|
rs1237939737
|
|
NM_016156.6(MTMR2):c.22G>C (p.Glu8Gln)
|
|
|
NM_016156.6(MTMR2):c.232T>A (p.Leu78Met)
|
rs750344055
|
|
NM_016156.6(MTMR2):c.24G>C (p.Glu8Asp)
|
rs2135659936
|
|
NM_016156.6(MTMR2):c.262+5G>A
|
rs1565361115
|
|
NM_016156.6(MTMR2):c.282A>G (p.Ile94Met)
|
rs769020850
|
|
NM_016156.6(MTMR2):c.305G>A (p.Arg102Gln)
|
rs1864454618
|
|
NM_016156.6(MTMR2):c.308G>A (p.Gly103Glu)
|
rs1590997541
|
|
NM_016156.6(MTMR2):c.313C>G (p.Leu105Val)
|
rs2135475998
|
|
NM_016156.6(MTMR2):c.349A>G (p.Met117Val)
|
rs2135475834
|
|
NM_016156.6(MTMR2):c.352G>A (p.Glu118Lys)
|
rs1864451374
|
|
NM_016156.6(MTMR2):c.355C>G (p.Arg119Gly)
|
rs142774695
|
|
NM_016156.6(MTMR2):c.355C>T (p.Arg119Trp)
|
|
|
NM_016156.6(MTMR2):c.370_372del (p.Val124del)
|
rs2135475047
|
|
NM_016156.6(MTMR2):c.404T>C (p.Val135Ala)
|
rs1864439728
|
|
NM_016156.6(MTMR2):c.408A>C (p.Glu136Asp)
|
rs1555065024
|
|
NM_016156.6(MTMR2):c.431G>A (p.Arg144Gln)
|
rs1555065007
|
|
NM_016156.6(MTMR2):c.432_434del (p.Gly145del)
|
rs1864437836
|
|
NM_016156.6(MTMR2):c.444T>G (p.Ser148=)
|
rs1555065002
|
|
NM_016156.6(MTMR2):c.469-3T>C
|
rs191224855
|
|
NM_016156.6(MTMR2):c.506G>A (p.Gly169Glu)
|
rs1864296648
|
|
NM_016156.6(MTMR2):c.508C>T (p.Arg170Trp)
|
rs1419183415
|
|
NM_016156.6(MTMR2):c.523A>G (p.Ile175Val)
|
rs1864295304
|
|
NM_016156.6(MTMR2):c.533A>G (p.Asn178Ser)
|
rs1055618502
|
|
NM_016156.6(MTMR2):c.553C>T (p.Pro185Ser)
|
rs577896427
|
|
NM_016156.6(MTMR2):c.59C>T (p.Pro20Leu)
|
rs952672162
|
|
NM_016156.6(MTMR2):c.62G>A (p.Ser21Asn)
|
|
|
NM_016156.6(MTMR2):c.637T>G (p.Leu213Val)
|
|
|
NM_016156.6(MTMR2):c.679A>G (p.Ile227Val)
|
|
|
NM_016156.6(MTMR2):c.67G>T (p.Asp23Tyr)
|
rs1225667280
|
|
NM_016156.6(MTMR2):c.698G>A (p.Arg233Gln)
|
rs758629389
|
|
NM_016156.6(MTMR2):c.718T>A (p.Tyr240Asn)
|
rs1863982879
|
|
NM_016156.6(MTMR2):c.721C>T (p.Pro241Ser)
|
rs540766159
|
|
NM_016156.6(MTMR2):c.752C>T (p.Pro251Leu)
|
|
|
NM_016156.6(MTMR2):c.753TGA[1] (p.Asp252del)
|
rs878855016
|
|
NM_016156.6(MTMR2):c.75G>C (p.Leu25Phe)
|
rs1376231939
|
|
NM_016156.6(MTMR2):c.80+6C>T
|
|
|
NM_016156.6(MTMR2):c.800T>C (p.Ile267Thr)
|
rs1863978401
|
|
NM_016156.6(MTMR2):c.812C>T (p.Ser271Leu)
|
|
|
NM_016156.6(MTMR2):c.871G>A (p.Val291Met)
|
|
|
NM_016156.6(MTMR2):c.884G>T (p.Arg295Leu)
|
rs777854770
|
|
NM_016156.6(MTMR2):c.88A>G (p.Thr30Ala)
|
|
|
NM_016156.6(MTMR2):c.892G>A (p.Glu298Lys)
|
rs2135439554
|
|
NM_016156.6(MTMR2):c.8A>G (p.Lys3Arg)
|
rs3824874
|
|
NM_016156.6(MTMR2):c.907C>G (p.Leu303Val)
|
|
|
NM_016156.6(MTMR2):c.946A>T (p.Ile316Phe)
|
|
|
NM_016156.6(MTMR2):c.94C>T (p.His32Tyr)
|
rs1591025020
|
|
NM_016156.6(MTMR2):c.959A>G (p.Asp320Gly)
|
|
|
NM_016156.6(MTMR2):c.965G>A (p.Arg322Gln)
|
rs2135439249
|
|
NM_016156.6(MTMR2):c.971G>A (p.Ser324Asn)
|
rs2135439231
|
|
NM_018972.4(GDAP1):c.1014G>A (p.Met338Ile)
|
|
|
NM_018972.4(GDAP1):c.1014G>C (p.Met338Ile)
|
rs759748392
|
|
NM_018972.4(GDAP1):c.1037G>A (p.Ser346Asn)
|
rs1380854548
|
|
NM_018972.4(GDAP1):c.1042A>G (p.Ile348Val)
|
rs775559344
|
|
NM_018972.4(GDAP1):c.1048G>A (p.Ala350Thr)
|
|
|
NM_018972.4(GDAP1):c.1063C>A (p.Pro355Thr)
|
rs1219244427
|
|
NM_018972.4(GDAP1):c.1063C>T (p.Pro355Ser)
|
rs1219244427
|
|
NM_018972.4(GDAP1):c.1066A>G (p.Asn356Asp)
|
rs765609133
|
|
NM_018972.4(GDAP1):c.1067A>G (p.Asn356Ser)
|
|
|
NM_018972.4(GDAP1):c.108C>A (p.Ser36Arg)
|
|
|
NM_018972.4(GDAP1):c.117+3A>G
|
|
|
NM_018972.4(GDAP1):c.118-3C>G
|
rs750762719
|
|
NM_018972.4(GDAP1):c.118-8T>G
|
|
|
NM_018972.4(GDAP1):c.11G>A (p.Arg4Lys)
|
|
|
NM_018972.4(GDAP1):c.166G>A (p.Val56Ile)
|
rs1808860135
|
|
NM_018972.4(GDAP1):c.171T>G (p.Ser57Arg)
|
rs774799079
|
|
NM_018972.4(GDAP1):c.178T>G (p.Leu60Val)
|
|
|
NM_018972.4(GDAP1):c.182G>A (p.Ser61Asn)
|
rs1808861763
|
|
NM_018972.4(GDAP1):c.200G>T (p.Trp67Leu)
|
|
|
NM_018972.4(GDAP1):c.207G>A (p.Met69Ile)
|
rs770714080
|
|
NM_018972.4(GDAP1):c.215A>G (p.Asn72Ser)
|
|
|
NM_018972.4(GDAP1):c.238C>T (p.Leu80Phe)
|
|
|
NM_018972.4(GDAP1):c.23A>G (p.Gln8Arg)
|
rs879253884
|
|
NM_018972.4(GDAP1):c.244C>A (p.His82Asn)
|
|
|
NM_018972.4(GDAP1):c.245A>G (p.His82Arg)
|
|
|
NM_018972.4(GDAP1):c.247G>A (p.Gly83Arg)
|
rs1586795373
|
|
NM_018972.4(GDAP1):c.250G>C (p.Glu84Gln)
|
|
|
NM_018972.4(GDAP1):c.257T>A (p.Ile86Lys)
|
|
|
NM_018972.4(GDAP1):c.259A>G (p.Ile87Val)
|
rs2131496333
|
|
NM_018972.4(GDAP1):c.25A>G (p.Arg9Gly)
|
|
|
NM_018972.4(GDAP1):c.302T>A (p.Phe101Tyr)
|
rs1808871960
|
|
NM_018972.4(GDAP1):c.310+4A>G
|
rs1808873168
|
|
NM_018972.4(GDAP1):c.310+5T>C
|
|
|
NM_018972.4(GDAP1):c.311-6T>G
|
|
|
NM_018972.4(GDAP1):c.346A>T (p.Met116Leu)
|
|
|
NM_018972.4(GDAP1):c.350A>G (p.Tyr117Cys)
|
rs1809288442
|
|
NM_018972.4(GDAP1):c.363ACA[1] (p.Gln122del)
|
|
|
NM_018972.4(GDAP1):c.373C>G (p.Arg125Gly)
|
|
|
NM_018972.4(GDAP1):c.404C>G (p.Ala135Gly)
|
|
|
NM_018972.4(GDAP1):c.430C>A (p.Pro144Thr)
|
rs570990910
|
|
NM_018972.4(GDAP1):c.445G>C (p.Asp149His)
|
rs1443963090
|
|
NM_018972.4(GDAP1):c.446A>C (p.Asp149Ala)
|
|
|
NM_018972.4(GDAP1):c.446A>G (p.Asp149Gly)
|
rs1586803296
|
|
NM_018972.4(GDAP1):c.449C>T (p.Ser150Phe)
|
|
|
NM_018972.4(GDAP1):c.456C>G (p.Ile152Met)
|
|
|
NM_018972.4(GDAP1):c.458C>A (p.Pro153Gln)
|
|
|
NM_018972.4(GDAP1):c.475A>G (p.Arg159Gly)
|
rs1809303639
|
|
NM_018972.4(GDAP1):c.477G>T (p.Arg159Ser)
|
|
|
NM_018972.4(GDAP1):c.484+3A>G
|
|
|
NM_018972.4(GDAP1):c.484+6T>C
|
rs2131513088
|
|
NM_018972.4(GDAP1):c.485-3C>T
|
rs761332159
|
|
NM_018972.4(GDAP1):c.491T>C (p.Ile164Thr)
|
|
|
NM_018972.4(GDAP1):c.506C>T (p.Ser169Phe)
|
|
|
NM_018972.4(GDAP1):c.506_507delinsTG (p.Ser169Leu)
|
rs1809384050
|
|
NM_018972.4(GDAP1):c.557T>C (p.Ile186Thr)
|
rs1809389310
|
|
NM_018972.4(GDAP1):c.55A>G (p.Lys19Glu)
|
|
|
NM_018972.4(GDAP1):c.568A>G (p.Lys190Glu)
|
rs1809389662
|
|
NM_018972.4(GDAP1):c.586C>G (p.Leu196Val)
|
rs1057524488
|
|
NM_018972.4(GDAP1):c.608A>G (p.Lys203Arg)
|
|
|
NM_018972.4(GDAP1):c.618G>T (p.Lys206Asn)
|
rs780629692
|
|
NM_018972.4(GDAP1):c.61G>A (p.Asp21Asn)
|
rs1367421978
|
|
NM_018972.4(GDAP1):c.643G>T (p.Val215Phe)
|
|
|
NM_018972.4(GDAP1):c.656T>C (p.Val219Ala)
|
rs1586806206
|
|
NM_018972.4(GDAP1):c.65C>G (p.Ala22Gly)
|
|
|
NM_018972.4(GDAP1):c.65C>T (p.Ala22Val)
|
|
|
NM_018972.4(GDAP1):c.671A>C (p.Gln224Pro)
|
rs1586806229
|
|
NM_018972.4(GDAP1):c.689C>G (p.Thr230Ser)
|
|
|
NM_018972.4(GDAP1):c.689C>T (p.Thr230Ile)
|
|
|
NM_018972.4(GDAP1):c.694+3A>G
|
|
|
NM_018972.4(GDAP1):c.695-1G>A
|
rs1809496317
|
|
NM_018972.4(GDAP1):c.697G>A (p.Glu233Lys)
|
|
|
NM_018972.4(GDAP1):c.716T>A (p.Leu239His)
|
|
|
NM_018972.4(GDAP1):c.719G>C (p.Cys240Ser)
|
rs121908115
|
|
NM_018972.4(GDAP1):c.765G>C (p.Leu255Phe)
|
rs1809501318
|
|
NM_018972.4(GDAP1):c.776A>G (p.Lys259Arg)
|
rs778557691
|
|
NM_018972.4(GDAP1):c.77T>C (p.Leu26Pro)
|
|
|
NM_018972.4(GDAP1):c.785G>A (p.Gly262Glu)
|
rs1563445155
|
|
NM_018972.4(GDAP1):c.793A>G (p.Arg265Gly)
|
|
|
NM_018972.4(GDAP1):c.805G>A (p.Gly269Arg)
|
rs2131521657
|
|
NM_018972.4(GDAP1):c.817C>G (p.Arg273Gly)
|
rs150989205
|
|
NM_018972.4(GDAP1):c.820C>G (p.Pro274Ala)
|
rs1563445213
|
|
NM_018972.4(GDAP1):c.857G>C (p.Arg286Thr)
|
|
|
NM_018972.4(GDAP1):c.85T>G (p.Tyr29Asp)
|
|
|
NM_018972.4(GDAP1):c.866T>A (p.Phe289Tyr)
|
|
|
NM_018972.4(GDAP1):c.86A>C (p.Tyr29Ser)
|
rs1563437000
|
|
NM_018972.4(GDAP1):c.872A>G (p.Lys291Arg)
|
rs1809508613
|
|
NM_018972.4(GDAP1):c.874G>C (p.Val292Leu)
|
rs767553697
|
|
NM_018972.4(GDAP1):c.880G>A (p.Gly294Arg)
|
rs976792279
|
|
NM_018972.4(GDAP1):c.897A>G (p.Ile299Met)
|
|
|
NM_018972.4(GDAP1):c.89A>T (p.His30Leu)
|
rs896431562
|
|
NM_018972.4(GDAP1):c.904T>G (p.Ser302Ala)
|
rs1586807478
|
|
NM_018972.4(GDAP1):c.907G>A (p.Ala303Thr)
|
rs368055667
|
|
NM_018972.4(GDAP1):c.908C>T (p.Ala303Val)
|
rs1440025936
|
|
NM_018972.4(GDAP1):c.927C>G (p.Phe309Leu)
|
rs1809513515
|
|
NM_018972.4(GDAP1):c.934G>A (p.Ala312Thr)
|
|
|
NM_018972.4(GDAP1):c.937A>G (p.Lys313Glu)
|
rs1809514361
|
|
NM_018972.4(GDAP1):c.945G>C (p.Arg315Ser)
|
|
|
NM_018972.4(GDAP1):c.947C>A (p.Ala316Asp)
|
|
|
NM_018972.4(GDAP1):c.970C>T (p.Leu324Phe)
|
rs1176626666
|
|
NM_018972.4(GDAP1):c.977T>A (p.Val326Asp)
|
rs1416176817
|
|
NM_018972.4(GDAP1):c.97C>T (p.His33Tyr)
|
|
|
NM_020631.6(PLEKHG5):c.1013A>G (p.Gln338Arg)
|
|
|
NM_020631.6(PLEKHG5):c.1037A>G (p.His346Arg)
|
rs2148587188
|
|
NM_020631.6(PLEKHG5):c.1051T>C (p.Tyr351His)
|
rs1569865241
|
|
NM_020631.6(PLEKHG5):c.1052A>G (p.Tyr351Cys)
|
|
|
NM_020631.6(PLEKHG5):c.1064T>C (p.Leu355Pro)
|
rs372001535
|
|
NM_020631.6(PLEKHG5):c.1073TCA[1] (p.Ile359del)
|
|
|
NM_020631.6(PLEKHG5):c.1080+5G>T
|
rs1644623669
|
|
NM_020631.6(PLEKHG5):c.1086C>G (p.Phe362Leu)
|
|
|
NM_020631.6(PLEKHG5):c.1111G>A (p.Glu371Lys)
|
rs2148585629
|
|
NM_020631.6(PLEKHG5):c.1112A>C (p.Glu371Ala)
|
rs1569861657
|
|
NM_020631.6(PLEKHG5):c.1118G>A (p.Gly373Glu)
|
rs1644599017
|
|
NM_020631.6(PLEKHG5):c.111G>C (p.Leu37Phe)
|
rs1244644253
|
|
NM_020631.6(PLEKHG5):c.112GAG[8] (p.Glu43_Ser44insGluGlu)
|
rs760139855
|
|
NM_020631.6(PLEKHG5):c.112GAG[9] (p.Glu43_Ser44insGluGluGlu)
|
rs760139855
|
|
NM_020631.6(PLEKHG5):c.1131+18_1131+34del
|
|
|
NM_020631.6(PLEKHG5):c.1131+19G>A
|
rs746822140
|
|
NM_020631.6(PLEKHG5):c.1145G>T (p.Arg382Leu)
|
rs1020039192
|
|
NM_020631.6(PLEKHG5):c.1161C>G (p.Ile387Met)
|
rs1644590923
|
|
NM_020631.6(PLEKHG5):c.1162C>T (p.Pro388Ser)
|
rs1644590851
|
|
NM_020631.6(PLEKHG5):c.1163C>G (p.Pro388Arg)
|
rs746094917
|
|
NM_020631.6(PLEKHG5):c.1166A>T (p.Glu389Val)
|
|
|
NM_020631.6(PLEKHG5):c.1251G>T (p.Gln417His)
|
rs568915094
|
|
NM_020631.6(PLEKHG5):c.1256G>A (p.Gly419Glu)
|
rs768648425
|
|
NM_020631.6(PLEKHG5):c.1271G>C (p.Gly424Ala)
|
rs1209779631
|
|
NM_020631.6(PLEKHG5):c.1282-7G>A
|
rs780551776
|
|
NM_020631.6(PLEKHG5):c.1304A>G (p.Tyr435Cys)
|
rs1569857188
|
|
NM_020631.6(PLEKHG5):c.1322AGG[2] (p.Glu443del)
|
|
|
NM_020631.6(PLEKHG5):c.1322AGG[4] (p.Glu443_Gly444insGlu)
|
rs2148583756
|
|
NM_020631.6(PLEKHG5):c.1334G>T (p.Cys445Phe)
|
|
|
NM_020631.6(PLEKHG5):c.1336A>G (p.Met446Val)
|
|
|
NM_020631.6(PLEKHG5):c.1346T>C (p.Met449Thr)
|
rs1553174146
|
|
NM_020631.6(PLEKHG5):c.1379G>A (p.Arg460Gln)
|
rs1309731055
|
|
NM_020631.6(PLEKHG5):c.1385A>G (p.Tyr462Cys)
|
rs2148583545
|
|
NM_020631.6(PLEKHG5):c.1392+8C>T
|
rs771832632
|
|
NM_020631.6(PLEKHG5):c.1396G>A (p.Ala466Thr)
|
|
|
NM_020631.6(PLEKHG5):c.1396G>C (p.Ala466Pro)
|
rs757292650
|
|
NM_020631.6(PLEKHG5):c.1412A>G (p.Gln471Arg)
|
|
|
NM_020631.6(PLEKHG5):c.1415G>A (p.Cys472Tyr)
|
rs2148583006
|
|
NM_020631.6(PLEKHG5):c.1421G>T (p.Arg474Met)
|
rs1644551354
|
|
NM_020631.6(PLEKHG5):c.1428G>C (p.Lys476Asn)
|
rs1243221708
|
|
NM_020631.6(PLEKHG5):c.1435G>A (p.Asp479Asn)
|
rs2148582918
|
|
NM_020631.6(PLEKHG5):c.1439T>G (p.Met480Arg)
|
rs2148582901
|
|
NM_020631.6(PLEKHG5):c.1448A>T (p.Lys483Ile)
|
|
|
NM_020631.6(PLEKHG5):c.1457A>G (p.Gln486Arg)
|
|
|
NM_020631.6(PLEKHG5):c.1469A>T (p.Lys490Met)
|
rs534760199
|
|
NM_020631.6(PLEKHG5):c.1470G>T (p.Lys490Asn)
|
rs2148582809
|
|
NM_020631.6(PLEKHG5):c.1471T>A (p.Tyr491Asn)
|
rs1644549269
|
|
NM_020631.6(PLEKHG5):c.1495C>G (p.Leu499Val)
|
rs1064796900
|
|
NM_020631.6(PLEKHG5):c.1498A>G (p.Arg500Gly)
|
|
|
NM_020631.6(PLEKHG5):c.1500G>C (p.Arg500Ser)
|
|
|
NM_020631.6(PLEKHG5):c.1513C>T (p.Pro505Ser)
|
rs530846615
|
|
NM_020631.6(PLEKHG5):c.1519G>A (p.Ala507Thr)
|
rs868002197
|
|
NM_020631.6(PLEKHG5):c.1519G>C (p.Ala507Pro)
|
rs868002197
|
|
NM_020631.6(PLEKHG5):c.1520C>T (p.Ala507Val)
|
rs1464559999
|
|
NM_020631.6(PLEKHG5):c.1528G>A (p.Ala510Thr)
|
rs1475922783
|
|
NM_020631.6(PLEKHG5):c.1535T>C (p.Val512Ala)
|
|
|
NM_020631.6(PLEKHG5):c.1537G>T (p.Ala513Ser)
|
rs1214327374
|
|
NM_020631.6(PLEKHG5):c.154C>G (p.Arg52Gly)
|
rs777277703
|
|
NM_020631.6(PLEKHG5):c.1559G>T (p.Arg520Leu)
|
rs1464358180
|
|
NM_020631.6(PLEKHG5):c.1570C>T (p.His524Tyr)
|
rs761251191
|
|
NM_020631.6(PLEKHG5):c.1588C>T (p.Arg530Trp)
|
rs1480269028
|
|
NM_020631.6(PLEKHG5):c.1594C>T (p.Arg532Trp)
|
|
|
NM_020631.6(PLEKHG5):c.1598_1612del (p.Gln533_Arg537del)
|
rs1557739505
|
|
NM_020631.6(PLEKHG5):c.1630C>T (p.Arg544Cys)
|
rs1046202834
|
|
NM_020631.6(PLEKHG5):c.1668C>G (p.Asp556Glu)
|
|
|
NM_020631.6(PLEKHG5):c.1747C>G (p.Arg583Gly)
|
rs766560337
|
|
NM_020631.6(PLEKHG5):c.1768A>G (p.Ser590Gly)
|
|
|
NM_020631.6(PLEKHG5):c.1801A>G (p.Met601Val)
|
rs1156760922
|
|
NM_020631.6(PLEKHG5):c.1804G>A (p.Asp602Asn)
|
rs1557738049
|
|
NM_020631.6(PLEKHG5):c.1827G>A (p.Thr609=)
|
|
|
NM_020631.6(PLEKHG5):c.1840G>C (p.Val614Leu)
|
rs752514480
|
|
NM_020631.6(PLEKHG5):c.1868G>C (p.Arg623Thr)
|
rs759538158
|
|
NM_020631.6(PLEKHG5):c.1902C>A (p.Asp634Glu)
|
|
|
NM_020631.6(PLEKHG5):c.1904A>G (p.Lys635Arg)
|
|
|
NM_020631.6(PLEKHG5):c.1955T>C (p.Leu652Pro)
|
rs1644500916
|
|
NM_020631.6(PLEKHG5):c.1966C>T (p.His656Tyr)
|
rs1644500686
|
|
NM_020631.6(PLEKHG5):c.1979G>A (p.Gly660Glu)
|
rs1460646554
|
|
NM_020631.6(PLEKHG5):c.1999A>G (p.Ser667Gly)
|
|
|
NM_020631.6(PLEKHG5):c.1A>G (p.Met1Val)
|
|
|
NM_020631.6(PLEKHG5):c.2001_2002inv (p.Gly668Ser)
|
|
|
NM_020631.6(PLEKHG5):c.2060A>T (p.Gln687Leu)
|
rs1046289350
|
|
NM_020631.6(PLEKHG5):c.2066T>G (p.Leu689Arg)
|
|
|
NM_020631.6(PLEKHG5):c.2068C>A (p.Arg690Ser)
|
|
|
NM_020631.6(PLEKHG5):c.2068C>T (p.Arg690Cys)
|
rs149089640
|
|
NM_020631.6(PLEKHG5):c.2117A>G (p.Glu706Gly)
|
|
|
NM_020631.6(PLEKHG5):c.2138A>C (p.Glu713Ala)
|
rs1241363420
|
|
NM_020631.6(PLEKHG5):c.2142_2153dup (p.Glu723_Gly724insGluGluGluGlu)
|
rs1553173393
|
|
NM_020631.6(PLEKHG5):c.2142_2156del (p.Glu719_Glu723del)
|
|
|
NM_020631.6(PLEKHG5):c.2145GGA[10] (p.Glu723_Gly724insGluGlu)
|
rs113541584
|
|
NM_020631.6(PLEKHG5):c.2145GGA[2] (p.Glu718_Glu723del)
|
rs113541584
|
|
NM_020631.6(PLEKHG5):c.2145GGA[9] (p.Glu723_Gly724insGlu)
|
rs113541584
|
|
NM_020631.6(PLEKHG5):c.2151G>C (p.Glu717Asp)
|
rs761945225
|
|
NM_020631.6(PLEKHG5):c.2156_2157insAGA (p.Glu723_Gly724insGlu)
|
rs1553173388
|
|
NM_020631.6(PLEKHG5):c.2161G>A (p.Glu721Lys)
|
rs1020150780
|
|
NM_020631.6(PLEKHG5):c.2163G>T (p.Glu721Asp)
|
rs62639695
|
|
NM_020631.6(PLEKHG5):c.2165_2170dup (p.Glu723_Gly724insGluGlu)
|
rs960528373
|
|
NM_020631.6(PLEKHG5):c.2166_2167insCAGGAGGAGGAAGAGGAGGAGGAGGAGGAGGAAGAG (p.Glu722_Glu723insGlnGluGluGluGluGluGluGluGluGluGluGlu)
|
|
|
NM_020631.6(PLEKHG5):c.2180G>T (p.Ser727Ile)
|
rs770641755
|
|
NM_020631.6(PLEKHG5):c.2209A>G (p.Ile737Val)
|
rs1644484109
|
|
NM_020631.6(PLEKHG5):c.2210T>G (p.Ile737Ser)
|
|
|
NM_020631.6(PLEKHG5):c.2227G>C (p.Gly743Arg)
|
|
|
NM_020631.6(PLEKHG5):c.2228G>C (p.Gly743Ala)
|
rs1245961862
|
|
NM_020631.6(PLEKHG5):c.2233C>A (p.Pro745Thr)
|
rs756501907
|
|
NM_020631.6(PLEKHG5):c.2234C>G (p.Pro745Arg)
|
|
|
NM_020631.6(PLEKHG5):c.2236G>A (p.Asp746Asn)
|
|
|
NM_020631.6(PLEKHG5):c.2244G>C (p.Gln748His)
|
rs1569839599
|
|
NM_020631.6(PLEKHG5):c.2252C>T (p.Ala751Val)
|
|
|
NM_020631.6(PLEKHG5):c.2279C>T (p.Ala760Val)
|
rs1569836518
|
|
NM_020631.6(PLEKHG5):c.2293G>C (p.Glu765Gln)
|
rs532817130
|
|
NM_020631.6(PLEKHG5):c.2312C>A (p.Ser771Tyr)
|
rs1644465940
|
|
NM_020631.6(PLEKHG5):c.2332G>T (p.Gly778Cys)
|
rs768087057
|
|
NM_020631.6(PLEKHG5):c.2372C>A (p.Thr791Asn)
|
|
|
NM_020631.6(PLEKHG5):c.2381C>T (p.Ser794Leu)
|
rs2148576538
|
|
NM_020631.6(PLEKHG5):c.2428G>T (p.Gly810Cys)
|
rs76625876
|
|
NM_020631.6(PLEKHG5):c.2453C>T (p.Ala818Val)
|
|
|
NM_020631.6(PLEKHG5):c.2458G>C (p.Gly820Arg)
|
rs202191898
|
|
NM_020631.6(PLEKHG5):c.2464C>A (p.Leu822Ile)
|
|
|
NM_020631.6(PLEKHG5):c.2473A>G (p.Thr825Ala)
|
rs779264802
|
|
NM_020631.6(PLEKHG5):c.2489T>C (p.Phe830Ser)
|
rs764007395
|
|
NM_020631.6(PLEKHG5):c.2513A>G (p.Glu838Gly)
|
rs1287801386
|
|
NM_020631.6(PLEKHG5):c.2537C>A (p.Ser846Tyr)
|
rs1180411078
|
|
NM_020631.6(PLEKHG5):c.2539C>T (p.Pro847Ser)
|
rs1390984037
|
|
NM_020631.6(PLEKHG5):c.2652G>T (p.Gln884His)
|
|
|
NM_020631.6(PLEKHG5):c.265A>G (p.Thr89Ala)
|
rs981552118
|
|
NM_020631.6(PLEKHG5):c.2664G>T (p.Gly888=)
|
rs1569832075
|
|
NM_020631.6(PLEKHG5):c.2672C>T (p.Thr891Ile)
|
rs2148575479
|
|
NM_020631.6(PLEKHG5):c.269A>G (p.Glu90Gly)
|
rs1247695536
|
|
NM_020631.6(PLEKHG5):c.2744G>A (p.Arg915Lys)
|
rs1644446616
|
|
NM_020631.6(PLEKHG5):c.2749C>G (p.Gln917Glu)
|
rs910647086
|
|
NM_020631.6(PLEKHG5):c.2751G>C (p.Gln917His)
|
|
|
NM_020631.6(PLEKHG5):c.2789G>T (p.Arg930Leu)
|
rs376237905
|
|
NM_020631.6(PLEKHG5):c.2791G>C (p.Gly931Arg)
|
rs1644443857
|
|
NM_020631.6(PLEKHG5):c.2827G>A (p.Gly943Ser)
|
rs114619322
|
|
NM_020631.6(PLEKHG5):c.286AAG[2] (p.Lys98del)
|
rs781153386
|
|
NM_020631.6(PLEKHG5):c.2879T>G (p.Leu960Arg)
|
rs1320979244
|
|
NM_020631.6(PLEKHG5):c.2887G>T (p.Gly963Trp)
|
rs780100460
|
|
NM_020631.6(PLEKHG5):c.2888G>A (p.Gly963Glu)
|
rs2148574527
|
|
NM_020631.6(PLEKHG5):c.2893_2915del (p.Ser965fs)
|
|
|
NM_020631.6(PLEKHG5):c.2894C>T (p.Ser965Phe)
|
rs1337483830
|
|
NM_020631.6(PLEKHG5):c.2915C>G (p.Pro972Arg)
|
rs777368688
|
|
NM_020631.6(PLEKHG5):c.2915C>T (p.Pro972Leu)
|
rs777368688
|
|
NM_020631.6(PLEKHG5):c.2924G>A (p.Gly975Glu)
|
|
|
NM_020631.6(PLEKHG5):c.2944A>G (p.Lys982Glu)
|
|
|
NM_020631.6(PLEKHG5):c.2956G>A (p.Ala986Thr)
|
|
|
NM_020631.6(PLEKHG5):c.2972T>C (p.Ile991Thr)
|
|
|
NM_020631.6(PLEKHG5):c.2975G>A (p.Arg992Lys)
|
rs750720112
|
|
NM_020631.6(PLEKHG5):c.2987T>C (p.Leu996Pro)
|
rs2148574076
|
|
NM_020631.6(PLEKHG5):c.2T>C (p.Met1Thr)
|
|
|
NM_020631.6(PLEKHG5):c.3008C>T (p.Ala1003Val)
|
|
|
NM_020631.6(PLEKHG5):c.3011+6T>C
|
rs1569827097
|
|
NM_020631.6(PLEKHG5):c.3012-17_3012-6del
|
rs774593947
|
|
NM_020631.6(PLEKHG5):c.3015G>A (p.Glu1005=)
|
|
|
NM_020631.6(PLEKHG5):c.302+6G>A
|
rs1553175409
|
|
NM_020631.6(PLEKHG5):c.307G>T (p.Val103Leu)
|
rs141032388
|
|
NM_020631.6(PLEKHG5):c.341C>T (p.Ala114Val)
|
|
|
NM_020631.6(PLEKHG5):c.34C>T (p.Pro12Ser)
|
rs140687324
|
|
NM_020631.6(PLEKHG5):c.367G>A (p.Asp123Asn)
|
rs759645488
|
|
NM_020631.6(PLEKHG5):c.379A>G (p.Thr127Ala)
|
rs2148591381
|
|
NM_020631.6(PLEKHG5):c.38C>T (p.Pro13Leu)
|
rs776271244
|
|
NM_020631.6(PLEKHG5):c.407A>G (p.Tyr136Cys)
|
rs986133840
|
|
NM_020631.6(PLEKHG5):c.412T>C (p.Phe138Leu)
|
rs1302453044
|
|
NM_020631.6(PLEKHG5):c.415G>A (p.Gly139Arg)
|
rs769529781
|
|
NM_020631.6(PLEKHG5):c.415G>C (p.Gly139Arg)
|
rs769529781
|
|
NM_020631.6(PLEKHG5):c.431G>A (p.Arg144His)
|
rs150152888
|
|
NM_020631.6(PLEKHG5):c.431G>T (p.Arg144Leu)
|
rs150152888
|
|
NM_020631.6(PLEKHG5):c.454G>A (p.Gly152Arg)
|
|
|
NM_020631.6(PLEKHG5):c.479G>A (p.Gly160Asp)
|
|
|
NM_020631.6(PLEKHG5):c.489C>G (p.Asp163Glu)
|
|
|
NM_020631.6(PLEKHG5):c.494A>G (p.Lys165Arg)
|
|
|
NM_020631.6(PLEKHG5):c.495G>C (p.Lys165Asn)
|
rs150772386
|
|
NM_020631.6(PLEKHG5):c.4C>T (p.His2Tyr)
|
rs2148598223
|
|
NM_020631.6(PLEKHG5):c.503G>C (p.Ser168Thr)
|
rs1346810555
|
|
NM_020631.6(PLEKHG5):c.509C>A (p.Pro170Gln)
|
rs59117380
|
|
NM_020631.6(PLEKHG5):c.517C>G (p.Arg173Gly)
|
rs372602993
|
|
NM_020631.6(PLEKHG5):c.517C>T (p.Arg173Trp)
|
rs372602993
|
|
NM_020631.6(PLEKHG5):c.521C>T (p.Pro174Leu)
|
rs1374927816
|
|
NM_020631.6(PLEKHG5):c.535C>T (p.Pro179Ser)
|
rs1644682762
|
|
NM_020631.6(PLEKHG5):c.541G>C (p.Ala181Pro)
|
rs527341275
|
|
NM_020631.6(PLEKHG5):c.547G>A (p.Glu183Lys)
|
rs886046502
|
|
NM_020631.6(PLEKHG5):c.559G>A (p.Ala187Thr)
|
rs199503669
|
|
NM_020631.6(PLEKHG5):c.55G>A (p.Ala19Thr)
|
|
|
NM_020631.6(PLEKHG5):c.562C>A (p.Gln188Lys)
|
|
|
NM_020631.6(PLEKHG5):c.565A>G (p.Ser189Gly)
|
rs1321100552
|
|
NM_020631.6(PLEKHG5):c.567CCG[1] (p.Arg191del)
|
rs1380854015
|
|
NM_020631.6(PLEKHG5):c.569G>A (p.Arg190His)
|
rs770010475
|
|
NM_020631.6(PLEKHG5):c.572G>A (p.Arg191Gln)
|
rs541234129
|
|
NM_020631.6(PLEKHG5):c.583G>A (p.Asp195Asn)
|
|
|
NM_020631.6(PLEKHG5):c.586A>G (p.Ile196Val)
|
rs1159602956
|
|
NM_020631.6(PLEKHG5):c.59G>A (p.Arg20Gln)
|
rs1259066437
|
|
NM_020631.6(PLEKHG5):c.601C>T (p.Arg201Cys)
|
rs561283132
|
|
NM_020631.6(PLEKHG5):c.601CGC[4] (p.Arg203_Lys204insArg)
|
|
|
NM_020631.6(PLEKHG5):c.605G>A (p.Arg202His)
|
|
|
NM_020631.6(PLEKHG5):c.615C>G (p.Asn205Lys)
|
rs2148589091
|
|
NM_020631.6(PLEKHG5):c.618G>T (p.Met206Ile)
|
rs1644658818
|
|
NM_020631.6(PLEKHG5):c.665C>A (p.Thr222Lys)
|
rs373678202
|
|
NM_020631.6(PLEKHG5):c.739G>C (p.Ala247Pro)
|
rs772232182
|
|
NM_020631.6(PLEKHG5):c.740C>T (p.Ala247Val)
|
|
|
NM_020631.6(PLEKHG5):c.745C>T (p.Arg249Cys)
|
rs1436222408
|
|
NM_020631.6(PLEKHG5):c.748T>C (p.Phe250Leu)
|
|
|
NM_020631.6(PLEKHG5):c.74G>A (p.Arg25Gln)
|
rs1201574261
|
|
NM_020631.6(PLEKHG5):c.74G>C (p.Arg25Pro)
|
rs1201574261
|
|
NM_020631.6(PLEKHG5):c.784G>A (p.Ala262Thr)
|
rs550362834
|
|
NM_020631.6(PLEKHG5):c.794G>A (p.Arg265Gln)
|
rs1280977628
|
|
NM_020631.6(PLEKHG5):c.80G>A (p.Cys27Tyr)
|
rs1569889912
|
|
NM_020631.6(PLEKHG5):c.826A>C (p.Lys276Gln)
|
rs1644646685
|
|
NM_020631.6(PLEKHG5):c.845T>A (p.Leu282His)
|
rs2148588292
|
|
NM_020631.6(PLEKHG5):c.869G>A (p.Arg290Gln)
|
|
|
NM_020631.6(PLEKHG5):c.889G>A (p.Asp297Asn)
|
rs1644643276
|
|
NM_020631.6(PLEKHG5):c.893C>T (p.Ser298Phe)
|
|
|
NM_020631.6(PLEKHG5):c.89G>A (p.Arg30His)
|
rs199745947
|
|
NM_020631.6(PLEKHG5):c.903_923del (p.Glu301_Glu307del)
|
rs1465693103
|
|
NM_020631.6(PLEKHG5):c.909_911del (p.Asp304del)
|
rs2148588099
|
|
NM_020631.6(PLEKHG5):c.919G>C (p.Glu307Gln)
|
rs148745591
|
|
NM_020631.6(PLEKHG5):c.91A>G (p.Thr31Ala)
|
rs1644755304
|
|
NM_020631.6(PLEKHG5):c.92C>G (p.Thr31Ser)
|
|
|
NM_020631.6(PLEKHG5):c.935C>A (p.Ala312Asp)
|
|
|
NM_020631.6(PLEKHG5):c.938G>A (p.Cys313Tyr)
|
|
|
NM_020631.6(PLEKHG5):c.951G>C (p.Glu317Asp)
|
rs767511293
|
|
NM_020631.6(PLEKHG5):c.967C>A (p.Leu323Ile)
|
rs1275790736
|
|
NM_020631.6(PLEKHG5):c.984+3G>A
|
rs1282919159
|
|
NM_020631.6(PLEKHG5):c.985-6C>G
|
rs1371350296
|
|
NM_020631.6(PLEKHG5):c.997C>T (p.Arg333Trp)
|
rs148232621
|
|
NM_021625.5(TRPV4):c.1006C>T (p.Arg336Cys)
|
rs781229110
|
|
NM_021625.5(TRPV4):c.1028C>T (p.Thr343Ile)
|
|
|
NM_021625.5(TRPV4):c.1039G>A (p.Asp347Asn)
|
rs1006063188
|
|
NM_021625.5(TRPV4):c.1055A>G (p.Lys352Arg)
|
|
|
NM_021625.5(TRPV4):c.1066C>T (p.Leu356Phe)
|
|
|
NM_021625.5(TRPV4):c.1076_1093del (p.Asp359_Ala364del)
|
rs1592838554
|
|
NM_021625.5(TRPV4):c.1087G>C (p.Glu363Gln)
|
|
|
NM_021625.5(TRPV4):c.1087_1088delinsTT (p.Glu363Leu)
|
rs1890576440
|
|
NM_021625.5(TRPV4):c.1093G>C (p.Val365Leu)
|
|
|
NM_021625.5(TRPV4):c.1105G>A (p.Asp369Asn)
|
|
|
NM_021625.5(TRPV4):c.1124T>C (p.Met375Thr)
|
|
|
NM_021625.5(TRPV4):c.1130C>T (p.Ala377Val)
|
|
|
NM_021625.5(TRPV4):c.1130_1152+16del
|
rs2136516895
|
|
NM_021625.5(TRPV4):c.1133C>A (p.Ala378Asp)
|
|
|
NM_021625.5(TRPV4):c.1136A>G (p.Lys379Arg)
|
rs1890568784
|
|
NM_021625.5(TRPV4):c.113A>G (p.Asn38Ser)
|
|
|
NM_021625.5(TRPV4):c.1159C>G (p.Gln387Glu)
|
rs1890422889
|
|
NM_021625.5(TRPV4):c.1165A>G (p.Ile389Val)
|
|
|
NM_021625.5(TRPV4):c.1172G>A (p.Arg391Gln)
|
|
|
NM_021625.5(TRPV4):c.1175G>C (p.Arg392Pro)
|
rs770364304
|
|
NM_021625.5(TRPV4):c.1205T>C (p.Leu402Pro)
|
rs1890419368
|
|
NM_021625.5(TRPV4):c.1233T>A (p.Tyr411Ter)
|
|
|
NM_021625.5(TRPV4):c.124G>T (p.Gly42Trp)
|
rs1891750610
|
|
NM_021625.5(TRPV4):c.125G>A (p.Gly42Glu)
|
|
|
NM_021625.5(TRPV4):c.125G>T (p.Gly42Val)
|
|
|
NM_021625.5(TRPV4):c.1265C>A (p.Ser422Tyr)
|
rs1890416175
|
|
NM_021625.5(TRPV4):c.1273G>T (p.Asp425Tyr)
|
rs1890415214
|
|
NM_021625.5(TRPV4):c.1282G>A (p.Gly428Arg)
|
|
|
NM_021625.5(TRPV4):c.1283G>A (p.Gly428Glu)
|
rs1890414210
|
|
NM_021625.5(TRPV4):c.1291G>A (p.Ala431Thr)
|
|
|
NM_021625.5(TRPV4):c.1292C>T (p.Ala431Val)
|
rs2136502657
|
|
NM_021625.5(TRPV4):c.1309C>G (p.Leu437Val)
|
rs1890412020
|
|
NM_021625.5(TRPV4):c.1314del (p.Tyr439fs)
|
|
|
NM_021625.5(TRPV4):c.1315T>A (p.Tyr439Asn)
|
rs762416745
|
|
NM_021625.5(TRPV4):c.1316A>T (p.Tyr439Phe)
|
|
|
NM_021625.5(TRPV4):c.1332+1G>A
|
|
|
NM_021625.5(TRPV4):c.1333-3T>C
|
|
|
NM_021625.5(TRPV4):c.1333-4_1333-3del
|
|
|
NM_021625.5(TRPV4):c.1333A>G (p.Asn445Asp)
|
|
|
NM_021625.5(TRPV4):c.1336C>G (p.Arg446Gly)
|
|
|
NM_021625.5(TRPV4):c.1337G>A (p.Arg446His)
|
rs143502097
|
|
NM_021625.5(TRPV4):c.1337G>C (p.Arg446Pro)
|
|
|
NM_021625.5(TRPV4):c.1345A>C (p.Met449Leu)
|
|
|
NM_021625.5(TRPV4):c.1349T>C (p.Leu450Pro)
|
|
|
NM_021625.5(TRPV4):c.1373T>C (p.Leu458Pro)
|
|
|
NM_021625.5(TRPV4):c.1378C>G (p.Arg460Gly)
|
|
|
NM_021625.5(TRPV4):c.1391G>A (p.Arg464His)
|
rs758206734
|
|
NM_021625.5(TRPV4):c.1391G>T (p.Arg464Leu)
|
|
|
NM_021625.5(TRPV4):c.1393A>G (p.Lys465Glu)
|
rs2136484635
|
|
NM_021625.5(TRPV4):c.1403C>T (p.Ala468Val)
|
|
|
NM_021625.5(TRPV4):c.1421A>T (p.Asn474Ile)
|
rs150461804
|
|
NM_021625.5(TRPV4):c.1424T>C (p.Val475Ala)
|
|
|
NM_021625.5(TRPV4):c.1431del (p.Tyr478fs)
|
|
|
NM_021625.5(TRPV4):c.1439G>T (p.Cys480Phe)
|
rs943346163
|
|
NM_021625.5(TRPV4):c.1445T>C (p.Met482Thr)
|
rs1565866454
|
|
NM_021625.5(TRPV4):c.1450A>G (p.Ile484Val)
|
rs1555206591
|
|
NM_021625.5(TRPV4):c.1457C>A (p.Thr486Asn)
|
rs2136483803
|
|
NM_021625.5(TRPV4):c.1463C>T (p.Thr488Ile)
|
|
|
NM_021625.5(TRPV4):c.1467del (p.Tyr490fs)
|
|
|
NM_021625.5(TRPV4):c.1473C>A (p.Tyr491Ter)
|
|
|
NM_021625.5(TRPV4):c.1491+5G>A
|
rs375360273
|
|
NM_021625.5(TRPV4):c.1491A>C (p.Thr497=)
|
|
|
NM_021625.5(TRPV4):c.1492-1_1494del
|
rs2136480490
|
|
NM_021625.5(TRPV4):c.14G>A (p.Ser5Asn)
|
|
|
NM_021625.5(TRPV4):c.1500C>A (p.Tyr500Ter)
|
|
|
NM_021625.5(TRPV4):c.1505A>T (p.Tyr502Phe)
|
rs1592830087
|
|
NM_021625.5(TRPV4):c.1513A>G (p.Thr505Ala)
|
|
|
NM_021625.5(TRPV4):c.1520A>G (p.Asp507Gly)
|
|
|
NM_021625.5(TRPV4):c.1527dup (p.Arg510fs)
|
|
|
NM_021625.5(TRPV4):c.1552C>T (p.Leu518Phe)
|
rs2136479469
|
|
NM_021625.5(TRPV4):c.1559C>A (p.Thr520Asn)
|
rs2136479390
|
|
NM_021625.5(TRPV4):c.155C>T (p.Ala52Val)
|
|
|
NM_021625.5(TRPV4):c.1570TTC[2] (p.Phe526del)
|
rs1393630996
|
|
NM_021625.5(TRPV4):c.1584+1G>C
|
rs775922797
|
|
NM_021625.5(TRPV4):c.1584+5G>C
|
|
|
NM_021625.5(TRPV4):c.1590A>C (p.Lys530Asn)
|
|
|
NM_021625.5(TRPV4):c.1601T>A (p.Met534Lys)
|
rs775011025
|
|
NM_021625.5(TRPV4):c.1616G>T (p.Gly539Val)
|
|
|
NM_021625.5(TRPV4):c.161C>G (p.Ala54Gly)
|
rs753813565
|
|
NM_021625.5(TRPV4):c.1627C>G (p.Leu543Val)
|
|
|
NM_021625.5(TRPV4):c.1627C>T (p.Leu543Phe)
|
rs779325064
|
|
NM_021625.5(TRPV4):c.1636G>A (p.Asp546Asn)
|
|
|
NM_021625.5(TRPV4):c.1639G>T (p.Gly547Cys)
|
|
|
NM_021625.5(TRPV4):c.1642T>C (p.Ser548Pro)
|
rs2136474950
|
|
NM_021625.5(TRPV4):c.1658+1G>A
|
|
|
NM_021625.5(TRPV4):c.1659-1G>A
|
|
|
NM_021625.5(TRPV4):c.1675_1698del (p.Leu559_Leu566del)
|
rs1890129676
|
|
NM_021625.5(TRPV4):c.1678del (p.Leu559_Val560insTer)
|
|
|
NM_021625.5(TRPV4):c.167G>A (p.Arg56His)
|
rs767169716
|
|
NM_021625.5(TRPV4):c.167G>T (p.Arg56Leu)
|
rs767169716
|
|
NM_021625.5(TRPV4):c.1696C>T (p.Leu566Phe)
|
rs144583941
|
|
NM_021625.5(TRPV4):c.1706C>G (p.Ala569Gly)
|
rs1565864489
|
|
NM_021625.5(TRPV4):c.1714G>A (p.Glu572Lys)
|
rs1312427314
|
|
NM_021625.5(TRPV4):c.1714G>C (p.Glu572Gln)
|
rs1312427314
|
|
NM_021625.5(TRPV4):c.1741G>A (p.Ala581Thr)
|
|
|
NM_021625.5(TRPV4):c.1778C>G (p.Thr593Ser)
|
|
|
NM_021625.5(TRPV4):c.1782_1783del (p.Gly595fs)
|
rs1252509184
|
|
NM_021625.5(TRPV4):c.1784G>T (p.Gly595Val)
|
rs2136468285
|
|
NM_021625.5(TRPV4):c.1796C>G (p.Thr599Arg)
|
rs769225216
|
|
NM_021625.5(TRPV4):c.1824+1G>A
|
rs758491211
|
|
NM_021625.5(TRPV4):c.1825-10G>A
|
|
|
NM_021625.5(TRPV4):c.1825A>C (p.Ile609Leu)
|
rs2136466571
|
|
NM_021625.5(TRPV4):c.1828C>T (p.Leu610Phe)
|
rs2136466528
|
|
NM_021625.5(TRPV4):c.1867del (p.Leu623fs)
|
rs1890102629
|
|
NM_021625.5(TRPV4):c.1874T>C (p.Met625Thr)
|
|
|
NM_021625.5(TRPV4):c.1878C>G (p.Ile626Met)
|
|
|
NM_021625.5(TRPV4):c.1879G>A (p.Gly627Ser)
|
rs998369017
|
|
NM_021625.5(TRPV4):c.1907T>C (p.Leu636Pro)
|
|
|
NM_021625.5(TRPV4):c.1919C>T (p.Ala640Val)
|
|
|
NM_021625.5(TRPV4):c.1924A>G (p.Met642Val)
|
|
|
NM_021625.5(TRPV4):c.1924A>T (p.Met642Leu)
|
rs1411091303
|
|
NM_021625.5(TRPV4):c.1925T>A (p.Met642Lys)
|
rs1368161455
|
|
NM_021625.5(TRPV4):c.1949C>A (p.Thr650Asn)
|
rs1249629161
|
|
NM_021625.5(TRPV4):c.1952A>C (p.Asn651Thr)
|
|
|
NM_021625.5(TRPV4):c.1957A>C (p.Thr653Pro)
|
rs769927678
|
|
NM_021625.5(TRPV4):c.1957A>G (p.Thr653Ala)
|
rs769927678
|
|
NM_021625.5(TRPV4):c.1963C>G (p.Pro655Ala)
|
|
|
NM_021625.5(TRPV4):c.1971C>A (p.Tyr657Ter)
|
rs1951172791
|
|
NM_021625.5(TRPV4):c.1972C>A (p.Pro658Thr)
|
|
|
NM_021625.5(TRPV4):c.1987A>G (p.Ser663Gly)
|
rs1889846400
|
|
NM_021625.5(TRPV4):c.1989C>G (p.Ser663Arg)
|
rs778560334
|
|
NM_021625.5(TRPV4):c.1993A>G (p.Thr665Ala)
|
|
|
NM_021625.5(TRPV4):c.2000G>A (p.Ser667Asn)
|
rs756867557
|
|
NM_021625.5(TRPV4):c.2000G>C (p.Ser667Thr)
|
|
|
NM_021625.5(TRPV4):c.203G>A (p.Arg68His)
|
rs747215384
|
|
NM_021625.5(TRPV4):c.203G>T (p.Arg68Leu)
|
rs747215384
|
|
NM_021625.5(TRPV4):c.2044G>A (p.Asp682Asn)
|
rs968378720
|
|
NM_021625.5(TRPV4):c.2045A>G (p.Asp682Gly)
|
|
|
NM_021625.5(TRPV4):c.2117C>A (p.Thr706Asn)
|
rs1889838365
|
|
NM_021625.5(TRPV4):c.213C>G (p.Phe71Leu)
|
|
|
NM_021625.5(TRPV4):c.2184G>C (p.Glu728Asp)
|
rs2136440447
|
|
NM_021625.5(TRPV4):c.2187C>A (p.Ser729Arg)
|
rs1889832143
|
|
NM_021625.5(TRPV4):c.2192A>G (p.His731Arg)
|
rs1463500359
|
|
NM_021625.5(TRPV4):c.2209-13_2209-5dup
|
|
|
NM_021625.5(TRPV4):c.2209T>C (p.Trp737Arg)
|
|
|
NM_021625.5(TRPV4):c.2209T>G (p.Trp737Gly)
|
|
|
NM_021625.5(TRPV4):c.220G>A (p.Ala74Thr)
|
|
|
NM_021625.5(TRPV4):c.2211G>C (p.Trp737Cys)
|
rs1035249096
|
|
NM_021625.5(TRPV4):c.2213C>T (p.Ala738Val)
|
|
|
NM_021625.5(TRPV4):c.223T>C (p.Phe75Leu)
|
|
|
NM_021625.5(TRPV4):c.2240C>T (p.Ser747Phe)
|
|
|
NM_021625.5(TRPV4):c.2246C>G (p.Pro749Arg)
|
rs1555205050
|
|
NM_021625.5(TRPV4):c.2251T>C (p.Phe751Leu)
|
rs1889714537
|
|
NM_021625.5(TRPV4):c.2264C>T (p.Ala755Val)
|
rs746363121
|
|
NM_021625.5(TRPV4):c.2271del (p.Ser758fs)
|
rs1889712036
|
|
NM_021625.5(TRPV4):c.2273C>G (p.Ser758Cys)
|
rs778014423
|
|
NM_021625.5(TRPV4):c.227G>A (p.Arg76His)
|
|
|
NM_021625.5(TRPV4):c.2290G>A (p.Val764Met)
|
rs750416252
|
|
NM_021625.5(TRPV4):c.2290G>T (p.Val764Leu)
|
rs750416252
|
|
NM_021625.5(TRPV4):c.2294G>A (p.Gly765Asp)
|
|
|
NM_021625.5(TRPV4):c.229A>G (p.Lys77Glu)
|
rs1565883324
|
|
NM_021625.5(TRPV4):c.2303C>T (p.Ser768Leu)
|
|
|
NM_021625.5(TRPV4):c.2308G>A (p.Gly770Ser)
|
|
|
NM_021625.5(TRPV4):c.2311A>C (p.Thr771Pro)
|
|
|
NM_021625.5(TRPV4):c.2315C>T (p.Pro772Leu)
|
rs1889708727
|
|
NM_021625.5(TRPV4):c.2321G>A (p.Arg774His)
|
|
|
NM_021625.5(TRPV4):c.2334C>T (p.Phe778=)
|
|
|
NM_021625.5(TRPV4):c.2337-13T>A
|
|
|
NM_021625.5(TRPV4):c.2338G>A (p.Val780Met)
|
|
|
NM_021625.5(TRPV4):c.2338G>T (p.Val780Leu)
|
|
|
NM_021625.5(TRPV4):c.2354G>C (p.Trp785Ser)
|
|
|
NM_021625.5(TRPV4):c.2378G>A (p.Gly793Asp)
|
rs1451788224
|
|
NM_021625.5(TRPV4):c.238C>T (p.Pro80Ser)
|
|
|
NM_021625.5(TRPV4):c.2395C>A (p.Pro799Thr)
|
rs267607147
|
|
NM_021625.5(TRPV4):c.2396C>A (p.Pro799Gln)
|
|
|
NM_021625.5(TRPV4):c.239C>T (p.Pro80Leu)
|
rs2136660243
|
|
NM_021625.5(TRPV4):c.2426G>A (p.Gly809Asp)
|
rs2136417276
|
|
NM_021625.5(TRPV4):c.242A>G (p.Asn81Ser)
|
rs2136660218
|
|
NM_021625.5(TRPV4):c.243C>G (p.Asn81Lys)
|
|
|
NM_021625.5(TRPV4):c.2446C>G (p.Arg816Gly)
|
rs748742151
|
|
NM_021625.5(TRPV4):c.2456G>A (p.Arg819Lys)
|
rs1565857540
|
|
NM_021625.5(TRPV4):c.2457G>A (p.Arg819=)
|
|
|
NM_021625.5(TRPV4):c.2458+4A>C
|
rs2136416943
|
|
NM_021625.5(TRPV4):c.245C>G (p.Pro82Arg)
|
rs767079858
|
|
NM_021625.5(TRPV4):c.2461C>T (p.Arg821Cys)
|
|
|
NM_021625.5(TRPV4):c.2470T>A (p.Ser824Thr)
|
|
|
NM_021625.5(TRPV4):c.2473G>C (p.Val825Leu)
|
rs1889497846
|
|
NM_021625.5(TRPV4):c.247A>G (p.Ile83Val)
|
|
|
NM_021625.5(TRPV4):c.2482C>A (p.Arg828Ser)
|
rs1467984181
|
|
NM_021625.5(TRPV4):c.2482C>T (p.Arg828Cys)
|
|
|
NM_021625.5(TRPV4):c.2485G>C (p.Val829Leu)
|
|
|
NM_021625.5(TRPV4):c.2489T>C (p.Val830Ala)
|
rs1565856891
|
|
NM_021625.5(TRPV4):c.2494C>A (p.Leu832Met)
|
|
|
NM_021625.5(TRPV4):c.2495T>G (p.Leu832Arg)
|
rs1565856842
|
|
NM_021625.5(TRPV4):c.250G>A (p.Asp84Asn)
|
rs908406423
|
|
NM_021625.5(TRPV4):c.2512C>T (p.Pro838Ser)
|
|
|
NM_021625.5(TRPV4):c.2513_2533del (p.Pro838_Pro844del)
|
|
|
NM_021625.5(TRPV4):c.2521G>A (p.Val841Met)
|
rs1592812166
|
|
NM_021625.5(TRPV4):c.2530C>A (p.Pro844Thr)
|
rs2136412583
|
|
NM_021625.5(TRPV4):c.2550C>A (p.Asn850Lys)
|
rs571407723
|
|
NM_021625.5(TRPV4):c.2557_2586del (p.Cys853_Arg862del)
|
rs1555204381
|
|
NM_021625.5(TRPV4):c.2560G>C (p.Asp854His)
|
rs368963822
|
|
NM_021625.5(TRPV4):c.2564G>C (p.Gly855Ala)
|
|
|
NM_021625.5(TRPV4):c.2570A>G (p.Gln857Arg)
|
rs1262126429
|
|
NM_021625.5(TRPV4):c.2575G>T (p.Gly859Cys)
|
|
|
NM_021625.5(TRPV4):c.2584del (p.Arg862fs)
|
rs746597270
|
|
NM_021625.5(TRPV4):c.2592G>T (p.Trp864Cys)
|
rs966904634
|
|
NM_021625.5(TRPV4):c.2595del (p.Thr866fs)
|
|
|
NM_021625.5(TRPV4):c.25C>G (p.Arg9Gly)
|
|
|
NM_021625.5(TRPV4):c.2605G>T (p.Ala869Ser)
|
rs138396764
|
|
NM_021625.5(TRPV4):c.283G>A (p.Val95Met)
|
rs1891735247
|
|
NM_021625.5(TRPV4):c.286G>T (p.Val96Leu)
|
|
|
NM_021625.5(TRPV4):c.28G>A (p.Ala10Thr)
|
|
|
NM_021625.5(TRPV4):c.313G>A (p.Asp105Asn)
|
|
|
NM_021625.5(TRPV4):c.313G>T (p.Asp105Tyr)
|
rs2136659447
|
|
NM_021625.5(TRPV4):c.326A>G (p.Asp109Gly)
|
rs1131691532
|
|
NM_021625.5(TRPV4):c.34C>T (p.Pro12Ser)
|
rs1416476726
|
|
NM_021625.5(TRPV4):c.352dup (p.Ser118fs)
|
|
|
NM_021625.5(TRPV4):c.357CAA[1] (p.Asn120del)
|
|
|
NM_021625.5(TRPV4):c.371G>A (p.Arg124Lys)
|
|
|
NM_021625.5(TRPV4):c.373A>G (p.Lys125Glu)
|
rs1421114267
|
|
NM_021625.5(TRPV4):c.374AGA[1] (p.Lys126del)
|
|
|
NM_021625.5(TRPV4):c.379A>T (p.Ile127Phe)
|
rs1367833016
|
|
NM_021625.5(TRPV4):c.37G>A (p.Gly13Arg)
|
rs763302555
|
|
NM_021625.5(TRPV4):c.37G>C (p.Gly13Arg)
|
rs763302555
|
|
NM_021625.5(TRPV4):c.389A>T (p.Lys130Met)
|
rs1891283509
|
|
NM_021625.5(TRPV4):c.413C>A (p.Pro138His)
|
|
|
NM_021625.5(TRPV4):c.41A>T (p.Glu14Val)
|
|
|
NM_021625.5(TRPV4):c.421C>G (p.Gln141Glu)
|
|
|
NM_021625.5(TRPV4):c.427C>A (p.Pro143Thr)
|
rs201642486
|
|
NM_021625.5(TRPV4):c.427C>T (p.Pro143Ser)
|
rs201642486
|
|
NM_021625.5(TRPV4):c.439A>T (p.Lys147Ter)
|
rs1032750471
|
|
NM_021625.5(TRPV4):c.43G>A (p.Val15Met)
|
|
|
NM_021625.5(TRPV4):c.446T>A (p.Phe149Tyr)
|
|
|
NM_021625.5(TRPV4):c.449A>T (p.Asn150Ile)
|
rs1376333910
|
|
NM_021625.5(TRPV4):c.451C>T (p.Arg151Trp)
|
|
|
NM_021625.5(TRPV4):c.452G>A (p.Arg151Gln)
|
|
|
NM_021625.5(TRPV4):c.478del (p.Arg160fs)
|
rs1064796238
|
|
NM_021625.5(TRPV4):c.500A>T (p.Asp167Val)
|
|
|
NM_021625.5(TRPV4):c.508C>T (p.Leu170Phe)
|
rs2136607765
|
|
NM_021625.5(TRPV4):c.511C>T (p.Pro171Ser)
|
rs2136607717
|
|
NM_021625.5(TRPV4):c.512C>T (p.Pro171Leu)
|
|
|
NM_021625.5(TRPV4):c.524C>A (p.Thr175Asn)
|
|
|
NM_021625.5(TRPV4):c.547G>A (p.Glu183Lys)
|
rs387906324
|
|
NM_021625.5(TRPV4):c.548A>T (p.Glu183Val)
|
rs2136607376
|
|
NM_021625.5(TRPV4):c.573dup (p.Lys192fs)
|
rs1890915679
|
|
NM_021625.5(TRPV4):c.581G>A (p.Cys194Tyr)
|
rs1890914888
|
|
NM_021625.5(TRPV4):c.590A>G (p.Lys197Arg)
|
rs387906903
|
|
NM_021625.5(TRPV4):c.592G>A (p.Ala198Thr)
|
rs761966856
|
|
NM_021625.5(TRPV4):c.5C>T (p.Ala2Val)
|
|
|
NM_021625.5(TRPV4):c.602A>G (p.Asn201Ser)
|
rs1555208698
|
|
NM_021625.5(TRPV4):c.604C>G (p.Leu202Val)
|
rs1890913335
|
|
NM_021625.5(TRPV4):c.617G>A (p.Arg206His)
|
rs373108373
|
|
NM_021625.5(TRPV4):c.617G>T (p.Arg206Leu)
|
rs373108373
|
|
NM_021625.5(TRPV4):c.61G>A (p.Asp21Asn)
|
|
|
NM_021625.5(TRPV4):c.621C>G (p.Asn207Lys)
|
|
|
NM_021625.5(TRPV4):c.634G>A (p.Val212Met)
|
|
|
NM_021625.5(TRPV4):c.648C>G (p.Ile216Met)
|
|
|
NM_021625.5(TRPV4):c.649G>A (p.Ala217Thr)
|
rs187864727
|
|
NM_021625.5(TRPV4):c.662G>A (p.Gly221Asp)
|
|
|
NM_021625.5(TRPV4):c.670_671delinsCA (p.Arg224Gln)
|
rs1555208643
|
|
NM_021625.5(TRPV4):c.673del (p.Glu225fs)
|
rs1191019525
|
|
NM_021625.5(TRPV4):c.689C>T (p.Pro230Leu)
|
rs1890901106
|
|
NM_021625.5(TRPV4):c.701T>C (p.Ile234Thr)
|
rs1555208627
|
|
NM_021625.5(TRPV4):c.706T>C (p.Tyr236His)
|
|
|
NM_021625.5(TRPV4):c.713-2dup
|
rs760776284
|
|
NM_021625.5(TRPV4):c.713-7C>G
|
rs1890730627
|
|
NM_021625.5(TRPV4):c.718A>T (p.Thr240Ser)
|
|
|
NM_021625.5(TRPV4):c.719C>T (p.Thr240Ile)
|
rs750340562
|
|
NM_021625.5(TRPV4):c.733G>A (p.Ala245Thr)
|
rs761829753
|
|
NM_021625.5(TRPV4):c.733G>T (p.Ala245Ser)
|
|
|
NM_021625.5(TRPV4):c.740_741del (p.Glu247fs)
|
|
|
NM_021625.5(TRPV4):c.749G>A (p.Cys250Tyr)
|
rs937032628
|
|
NM_021625.5(TRPV4):c.751A>C (p.Lys251Gln)
|
|
|
NM_021625.5(TRPV4):c.752A>G (p.Lys251Arg)
|
rs1890725320
|
|
NM_021625.5(TRPV4):c.757T>C (p.Tyr253His)
|
rs973315587
|
|
NM_021625.5(TRPV4):c.761_763del (p.Val254del)
|
rs1890724382
|
|
NM_021625.5(TRPV4):c.762G>A (p.Val254=)
|
rs2136537855
|
|
NM_021625.5(TRPV4):c.781G>A (p.Gly261Arg)
|
|
|
NM_021625.5(TRPV4):c.789_790inv (p.Val264Ile)
|
|
|
NM_021625.5(TRPV4):c.79G>A (p.Gly27Ser)
|
|
|
NM_021625.5(TRPV4):c.820C>T (p.Gln274Ter)
|
rs1592842140
|
|
NM_021625.5(TRPV4):c.827A>C (p.Lys276Thr)
|
rs1592842115
|
|
NM_021625.5(TRPV4):c.834G>T (p.Glu278Asp)
|
rs529115496
|
|
NM_021625.5(TRPV4):c.842A>C (p.Tyr281Ser)
|
rs1555208063
|
|
NM_021625.5(TRPV4):c.845dup (p.Tyr283fs)
|
|
|
NM_021625.5(TRPV4):c.872T>C (p.Leu291Pro)
|
|
|
NM_021625.5(TRPV4):c.88G>A (p.Ala30Thr)
|
|
|
NM_021625.5(TRPV4):c.895dup (p.His299fs)
|
|
|
NM_021625.5(TRPV4):c.8A>G (p.Asp3Gly)
|
|
|
NM_021625.5(TRPV4):c.923C>T (p.Pro308Leu)
|
|
|
NM_021625.5(TRPV4):c.925C>T (p.His309Tyr)
|
rs1184985507
|
|
NM_021625.5(TRPV4):c.928A>G (p.Lys310Glu)
|
|
|
NM_021625.5(TRPV4):c.944G>A (p.Arg315Gln)
|
rs1064795696
|
|
NM_021625.5(TRPV4):c.949del (p.Gln317fs)
|
|
|
NM_021625.5(TRPV4):c.962G>T (p.Gly321Val)
|
|
|
NM_021625.5(TRPV4):c.978T>A (p.His326Gln)
|
rs1890587000
|
|
NM_021625.5(TRPV4):c.980C>T (p.Ala327Val)
|
rs1179420073
|
|
NM_021625.5(TRPV4):c.985G>A (p.Val329Met)
|
rs2136519623
|
|
NM_021625.5(TRPV4):c.997G>T (p.Asp333Tyr)
|
rs2136519490
|
|
NM_021629.4(GNB4):c.102del (p.Ser35fs)
|
rs2108595883
|
|
NM_021629.4(GNB4):c.107A>T (p.Asn36Ile)
|
rs1577031106
|
|
NM_021629.4(GNB4):c.135G>A (p.Met45Ile)
|
|
|
NM_021629.4(GNB4):c.136C>T (p.Arg46Ter)
|
rs1252790676
|
|
NM_021629.4(GNB4):c.16C>G (p.Gln6Glu)
|
rs1163990709
|
|
NM_021629.4(GNB4):c.181A>T (p.Met61Leu)
|
|
|
NM_021629.4(GNB4):c.185A>C (p.His62Pro)
|
rs879741255
|
|
NM_021629.4(GNB4):c.196G>A (p.Asp66Asn)
|
rs864622729
|
|
NM_021629.4(GNB4):c.200C>T (p.Ser67Phe)
|
|
|
NM_021629.4(GNB4):c.201C>T (p.Ser67=)
|
|
|
NM_021629.4(GNB4):c.204-3T>C
|
|
|
NM_021629.4(GNB4):c.204-6C>G
|
rs752116156
|
|
NM_021629.4(GNB4):c.254A>G (p.Tyr85Cys)
|
|
|
NM_021629.4(GNB4):c.265A>C (p.Lys89Gln)
|
rs387907341
|
|
NM_021629.4(GNB4):c.296G>A (p.Trp99Ter)
|
|
|
NM_021629.4(GNB4):c.311C>T (p.Ala104Val)
|
rs761510333
|
|
NM_021629.4(GNB4):c.332A>T (p.Tyr111Phe)
|
|
|
NM_021629.4(GNB4):c.334G>A (p.Val112Ile)
|
rs1186398900
|
|
NM_021629.4(GNB4):c.356A>G (p.Asn119Ser)
|
rs2108591079
|
|
NM_021629.4(GNB4):c.35A>G (p.Glu12Gly)
|
|
|
NM_021629.4(GNB4):c.368T>C (p.Ile123Thr)
|
|
|
NM_021629.4(GNB4):c.380dup (p.Thr128fs)
|
|
|
NM_021629.4(GNB4):c.388G>C (p.Glu130Gln)
|
|
|
NM_021629.4(GNB4):c.402A>G (p.Arg134=)
|
|
|
NM_021629.4(GNB4):c.403G>A (p.Val135Ile)
|
|
|
NM_021629.4(GNB4):c.429A>G (p.Thr143=)
|
rs1577029046
|
|
NM_021629.4(GNB4):c.431-11_431-10del
|
rs778339130
|
|
NM_021629.4(GNB4):c.442T>A (p.Cys148Ser)
|
rs1429474978
|
|
NM_021629.4(GNB4):c.449G>A (p.Arg150His)
|
|
|
NM_021629.4(GNB4):c.471T>G (p.Ile157Met)
|
|
|
NM_021629.4(GNB4):c.482C>A (p.Ser161Ter)
|
|
|
NM_021629.4(GNB4):c.491C>A (p.Thr164Lys)
|
rs769949519
|
|
NM_021629.4(GNB4):c.521C>T (p.Ala174Val)
|
rs1714712618
|
|
NM_021629.4(GNB4):c.530C>A (p.Thr177Asn)
|
|
|
NM_021629.4(GNB4):c.540C>G (p.Phe180Leu)
|
|
|
NM_021629.4(GNB4):c.560T>C (p.Val187Ala)
|
|
|
NM_021629.4(GNB4):c.572_575del (p.Leu190_Ser191insTer)
|
|
|
NM_021629.4(GNB4):c.584A>G (p.Asp195Gly)
|
|
|
NM_021629.4(GNB4):c.58G>C (p.Asp20His)
|
|
|
NM_021629.4(GNB4):c.61G>T (p.Ala21Ser)
|
|
|
NM_021629.4(GNB4):c.640C>T (p.Arg214Ter)
|
rs748747265
|
|
NM_021629.4(GNB4):c.641G>A (p.Arg214Gln)
|
|
|
NM_021629.4(GNB4):c.645T>G (p.Asp215Glu)
|
rs755596977
|
|
NM_021629.4(GNB4):c.65G>A (p.Arg22Gln)
|
|
|
NM_021629.4(GNB4):c.700-9C>G
|
rs2108580139
|
|
NM_021629.4(GNB4):c.724G>A (p.Ala242Thr)
|
|
|
NM_021629.4(GNB4):c.733T>A (p.Ser245Thr)
|
rs1714435843
|
|
NM_021629.4(GNB4):c.73T>G (p.Cys25Gly)
|
|
|
NM_021629.4(GNB4):c.745A>C (p.Thr249Pro)
|
|
|
NM_021629.4(GNB4):c.749G>A (p.Cys250Tyr)
|
|
|
NM_021629.4(GNB4):c.74G>A (p.Cys25Tyr)
|
|
|
NM_021629.4(GNB4):c.752G>A (p.Arg251Gln)
|
|
|
NM_021629.4(GNB4):c.783ATT[1] (p.Leu263del)
|
rs771274313
|
|
NM_021629.4(GNB4):c.784_785insC (p.Leu262fs)
|
|
|
NM_021629.4(GNB4):c.800A>G (p.Asp267Gly)
|
rs2108579874
|
|
NM_021629.4(GNB4):c.826G>A (p.Val276Ile)
|
rs139774004
|
|
NM_021629.4(GNB4):c.839A>G (p.Lys280Arg)
|
|
|
NM_021629.4(GNB4):c.83C>G (p.Ala28Gly)
|
rs1023173121
|
|
NM_021629.4(GNB4):c.847C>T (p.Arg283Cys)
|
|
|
NM_021629.4(GNB4):c.848G>A (p.Arg283His)
|
|
|
NM_021629.4(GNB4):c.848G>C (p.Arg283Pro)
|
rs186593898
|
|
NM_021629.4(GNB4):c.863G>C (p.Gly288Ala)
|
|
|
NM_021629.4(GNB4):c.908A>C (p.Asp303Ala)
|
rs1020090528
|
|
NM_021629.4(GNB4):c.916+3T>C
|
rs2108579668
|
|
NM_021629.4(GNB4):c.917-5T>C
|
|
|
NM_021629.4(GNB4):c.919G>T (p.Val307Phe)
|
|
|
NM_021629.4(GNB4):c.923T>C (p.Leu308Pro)
|
rs1168008697
|
|
NM_021629.4(GNB4):c.939_940del (p.Asn313fs)
|
rs1560208074
|
|
NM_021629.4(GNB4):c.958G>T (p.Val320Leu)
|
|
|
NM_021629.4(GNB4):c.96+2T>C
|
rs2108597364
|
|
NM_021629.4(GNB4):c.97-1_98del
|
rs776641307
|
|
NM_022489.4(INF2):c.1010T>A (p.Val337Glu)
|
|
|
NM_022489.4(INF2):c.1039C>T (p.Arg347Ter)
|
rs2140666903
|
|
NM_022489.4(INF2):c.1049C>A (p.Pro350Gln)
|
|
|
NM_022489.4(INF2):c.1053C>A (p.Ser351Arg)
|
rs1889825135
|
|
NM_022489.4(INF2):c.1063_1080dup (p.Val360_Gln361insLysAlaHisLysSerVal)
|
|
|
NM_022489.4(INF2):c.1076G>A (p.Ser359Asn)
|
|
|
NM_022489.4(INF2):c.1093G>A (p.Asp365Asn)
|
|
|
NM_022489.4(INF2):c.1095C>A (p.Asp365Glu)
|
rs2140667164
|
|
NM_022489.4(INF2):c.1105A>G (p.Arg369Gly)
|
rs1889828741
|
|
NM_022489.4(INF2):c.1111A>G (p.Ser371Gly)
|
|
|
NM_022489.4(INF2):c.1126A>T (p.Thr376Ser)
|
rs376942822
|
|
NM_022489.4(INF2):c.1133C>A (p.Thr378Asn)
|
|
|
NM_022489.4(INF2):c.1177G>A (p.Ala393Thr)
|
|
|
NM_022489.4(INF2):c.1177G>C (p.Ala393Pro)
|
rs2140667487
|
|
NM_022489.4(INF2):c.1183G>C (p.Glu395Gln)
|
rs374769850
|
|
NM_022489.4(INF2):c.1186C>G (p.Pro396Ala)
|
rs1416561484
|
|
NM_022489.4(INF2):c.1193A>G (p.Asp398Gly)
|
|
|
NM_022489.4(INF2):c.119G>C (p.Arg40Pro)
|
rs1437016055
|
|
NM_022489.4(INF2):c.1211G>T (p.Ser404Ile)
|
rs759535604
|
|
NM_022489.4(INF2):c.1217_1228del (p.Leu406_Ser409del)
|
|
|
NM_022489.4(INF2):c.1225T>A (p.Ser409Thr)
|
|
|
NM_022489.4(INF2):c.1226C>T (p.Ser409Leu)
|
rs1486781241
|
|
NM_022489.4(INF2):c.1228_1229insCCAGAGTGAG (p.Gln410fs)
|
rs2140667760
|
|
NM_022489.4(INF2):c.1243G>A (p.Glu415Lys)
|
|
|
NM_022489.4(INF2):c.1253C>T (p.Ala418Val)
|
|
|
NM_022489.4(INF2):c.1262CACCCC[1] (p.Pro423_Pro428del)
|
rs573567814
|
|
NM_022489.4(INF2):c.1262CACCCC[6] (p.Pro428_Leu429insProProProPro)
|
|
|
NM_022489.4(INF2):c.1268C>A (p.Pro423Gln)
|
|
|
NM_022489.4(INF2):c.1268C>T (p.Pro423Leu)
|
rs1263040681
|
|
NM_022489.4(INF2):c.1270C>G (p.Pro424Ala)
|
|
|
NM_022489.4(INF2):c.1275_1286del (p.Pro426_Leu429del)
|
|
|
NM_022489.4(INF2):c.1276C>A (p.Pro426Thr)
|
rs766635668
|
|
NM_022489.4(INF2):c.1280C>T (p.Pro427Leu)
|
rs1889838927
|
|
NM_022489.4(INF2):c.1286del (p.Leu429fs)
|
|
|
NM_022489.4(INF2):c.1289_1339del (p.Leu430_Leu446del)
|
rs1566781602
|
|
NM_022489.4(INF2):c.1298C>G (p.Ser433Cys)
|
rs2140668383
|
|
NM_022489.4(INF2):c.1308G>T (p.Glu436Asp)
|
rs1566781633
|
|
NM_022489.4(INF2):c.1310C>T (p.Pro437Leu)
|
rs746697423
|
|
NM_022489.4(INF2):c.1314TCCCCC[1] (p.Pro444_Pro445del)
|
rs980563049
|
|
NM_022489.4(INF2):c.1314TCCCCC[3] (p.Pro445_Leu446insProPro)
|
|
|
NM_022489.4(INF2):c.1325C>T (p.Pro442Leu)
|
|
|
NM_022489.4(INF2):c.1336dup (p.Leu446fs)
|
rs1278804782
|
|
NM_022489.4(INF2):c.1337T>C (p.Leu446Pro)
|
|
|
NM_022489.4(INF2):c.134C>T (p.Pro45Leu)
|
|
|
NM_022489.4(INF2):c.1366A>G (p.Thr456Ala)
|
|
|
NM_022489.4(INF2):c.1376C>T (p.Pro459Leu)
|
|
|
NM_022489.4(INF2):c.1376_1387del (p.Pro459_Pro462del)
|
rs1443005224
|
|
NM_022489.4(INF2):c.1379C>G (p.Pro460Arg)
|
|
|
NM_022489.4(INF2):c.137C>T (p.Ser46Phe)
|
rs1889493279
|
|
NM_022489.4(INF2):c.1381C>T (p.Pro461Ser)
|
|
|
NM_022489.4(INF2):c.1382C>A (p.Pro461Gln)
|
|
|
NM_022489.4(INF2):c.1391C>G (p.Pro464Arg)
|
|
|
NM_022489.4(INF2):c.1396_1446dup (p.Leu466_Gly482dup)
|
rs1566781794
|
|
NM_022489.4(INF2):c.1406T>C (p.Met469Thr)
|
rs1889849217
|
|
NM_022489.4(INF2):c.1411C>G (p.Pro471Ala)
|
|
|
NM_022489.4(INF2):c.1415del (p.Pro472fs)
|
rs2140669082
|
|
NM_022489.4(INF2):c.1421CTC[1] (p.Pro475del)
|
rs1325744353
|
|
NM_022489.4(INF2):c.1435C>A (p.Pro479Thr)
|
|
|
NM_022489.4(INF2):c.1440_1441delinsTT (p.Pro481Ser)
|
|
|
NM_022489.4(INF2):c.1466C>T (p.Pro489Leu)
|
rs1438965620
|
|
NM_022489.4(INF2):c.1474C>T (p.Pro492Ser)
|
|
|
NM_022489.4(INF2):c.1493G>T (p.Gly498Val)
|
rs2140669360
|
|
NM_022489.4(INF2):c.14A>T (p.Glu5Val)
|
|
|
NM_022489.4(INF2):c.150C>A (p.Tyr50Ter)
|
rs1555373267
|
|
NM_022489.4(INF2):c.1511C>A (p.Pro504Gln)
|
|
|
NM_022489.4(INF2):c.1517T>G (p.Leu506Arg)
|
rs1160363735
|
|
NM_022489.4(INF2):c.1526G>A (p.Gly509Asp)
|
|
|
NM_022489.4(INF2):c.1528A>G (p.Met510Val)
|
|
|
NM_022489.4(INF2):c.1571G>C (p.Cys524Ser)
|
rs2140669651
|
|
NM_022489.4(INF2):c.1576T>A (p.Cys526Ser)
|
|
|
NM_022489.4(INF2):c.1579A>C (p.Ser527Arg)
|
|
|
NM_022489.4(INF2):c.1585C>A (p.Pro529Thr)
|
rs1052608799
|
|
NM_022489.4(INF2):c.1587dup (p.Val530fs)
|
rs748929807
|
|
NM_022489.4(INF2):c.1594G>A (p.Gly532Arg)
|
|
|
NM_022489.4(INF2):c.1599C>T (p.Gly533=)
|
rs1889860666
|
|
NM_022489.4(INF2):c.1603G>C (p.Glu535Gln)
|
rs2140669798
|
|
NM_022489.4(INF2):c.1604AGG[1] (p.Glu536del)
|
|
|
NM_022489.4(INF2):c.1618G>A (p.Ala540Thr)
|
|
|
NM_022489.4(INF2):c.1625T>C (p.Val542Ala)
|
rs1467920811
|
|
NM_022489.4(INF2):c.1634G>T (p.Gly545Val)
|
|
|
NM_022489.4(INF2):c.1674C>A (p.Asn558Lys)
|
|
|
NM_022489.4(INF2):c.1710G>C (p.Gln570His)
|
rs2140670180
|
|
NM_022489.4(INF2):c.1733G>A (p.Arg578His)
|
|
|
NM_022489.4(INF2):c.1735+5G>A
|
|
|
NM_022489.4(INF2):c.1736A>G (p.Glu579Gly)
|
rs2140671973
|
|
NM_022489.4(INF2):c.1774G>A (p.Ala592Thr)
|
rs530285485
|
|
NM_022489.4(INF2):c.1780G>C (p.Ala594Pro)
|
|
|
NM_022489.4(INF2):c.1794_1801dup (p.Ser601fs)
|
|
|
NM_022489.4(INF2):c.17G>T (p.Gly6Val)
|
|
|
NM_022489.4(INF2):c.181G>C (p.Asp61His)
|
rs1410857502
|
|
NM_022489.4(INF2):c.1824C>G (p.Phe608Leu)
|
|
|
NM_022489.4(INF2):c.1849A>G (p.Thr617Ala)
|
rs2140672247
|
|
NM_022489.4(INF2):c.1852A>T (p.Met618Leu)
|
|
|
NM_022489.4(INF2):c.1859C>T (p.Ala620Val)
|
|
|
NM_022489.4(INF2):c.1865G>C (p.Arg622Pro)
|
|
|
NM_022489.4(INF2):c.1870A>T (p.Arg624Trp)
|
|
|
NM_022489.4(INF2):c.1879C>A (p.Pro627Thr)
|
|
|
NM_022489.4(INF2):c.1888-8T>G
|
rs889481678
|
|
NM_022489.4(INF2):c.188G>A (p.Gly63Asp)
|
rs990960028
|
|
NM_022489.4(INF2):c.188_208del (p.Gly63_Leu69del)
|
rs1889495846
|
|
NM_022489.4(INF2):c.1892C>T (p.Thr631Ile)
|
rs1595172697
|
|
NM_022489.4(INF2):c.1894T>C (p.Phe632Leu)
|
|
|
NM_022489.4(INF2):c.1900G>A (p.Asp634Asn)
|
|
|
NM_022489.4(INF2):c.1902T>A (p.Asp634Glu)
|
|
|
NM_022489.4(INF2):c.1906A>C (p.Lys636Gln)
|
rs1889898227
|
|
NM_022489.4(INF2):c.1907A>G (p.Lys636Arg)
|
rs761939643
|
|
NM_022489.4(INF2):c.1912A>T (p.Ser638Cys)
|
|
|
NM_022489.4(INF2):c.1913G>A (p.Ser638Asn)
|
|
|
NM_022489.4(INF2):c.1914C>G (p.Ser638Arg)
|
|
|
NM_022489.4(INF2):c.1921C>T (p.Leu641Phe)
|
|
|
NM_022489.4(INF2):c.1932C>G (p.Phe644Leu)
|
rs966287674
|
|
NM_022489.4(INF2):c.1942T>G (p.Phe648Val)
|
|
|
NM_022489.4(INF2):c.1949+1G>A
|
|
|
NM_022489.4(INF2):c.1950-19G>A
|
|
|
NM_022489.4(INF2):c.1958A>G (p.Glu653Gly)
|
rs2140675983
|
|
NM_022489.4(INF2):c.1967C>G (p.Ala656Gly)
|
|
|
NM_022489.4(INF2):c.2008G>T (p.Glu670Ter)
|
|
|
NM_022489.4(INF2):c.200A>G (p.Gln67Arg)
|
|
|
NM_022489.4(INF2):c.2023C>G (p.Leu675Val)
|
|
|
NM_022489.4(INF2):c.2023C>T (p.Leu675Phe)
|
|
|
NM_022489.4(INF2):c.2050G>A (p.Glu684Lys)
|
|
|
NM_022489.4(INF2):c.2052+3A>G
|
rs1382855956
|
|
NM_022489.4(INF2):c.2087C>G (p.Ala696Gly)
|
rs769120676
|
|
NM_022489.4(INF2):c.2093T>C (p.Leu698Pro)
|
rs1889952154
|
|
NM_022489.4(INF2):c.2104G>A (p.Asp702Asn)
|
|
|
NM_022489.4(INF2):c.210_224dup (p.Glu70_Leu74dup)
|
rs1889497296
|
|
NM_022489.4(INF2):c.2122C>A (p.Leu708Met)
|
|
|
NM_022489.4(INF2):c.2128G>A (p.Ala710Thr)
|
rs373806518
|
|
NM_022489.4(INF2):c.2138+4A>G
|
|
|
NM_022489.4(INF2):c.2174A>C (p.Glu725Ala)
|
rs1889975115
|
|
NM_022489.4(INF2):c.2197A>T (p.Met733Leu)
|
|
|
NM_022489.4(INF2):c.2203C>T (p.Arg735Trp)
|
|
|
NM_022489.4(INF2):c.2206C>T (p.Pro736Ser)
|
|
|
NM_022489.4(INF2):c.220C>G (p.Leu74Val)
|
|
|
NM_022489.4(INF2):c.221T>G (p.Leu74Arg)
|
rs1566777566
|
|
NM_022489.4(INF2):c.2225T>G (p.Leu742Arg)
|
rs1595174468
|
|
NM_022489.4(INF2):c.2238A>C (p.Glu746Asp)
|
|
|
NM_022489.4(INF2):c.2264C>G (p.Pro755Arg)
|
|
|
NM_022489.4(INF2):c.226CTG[2] (p.Leu78del)
|
rs1889499325
|
|
NM_022489.4(INF2):c.2288G>A (p.Arg763Lys)
|
|
|
NM_022489.4(INF2):c.2311-3del
|
|
|
NM_022489.4(INF2):c.233T>A (p.Leu78Gln)
|
rs1889500121
|
|
NM_022489.4(INF2):c.2399T>G (p.Leu800Arg)
|
rs1890029024
|
|
NM_022489.4(INF2):c.2419-19T>A
|
rs1890051019
|
|
NM_022489.4(INF2):c.2436C>G (p.His812Gln)
|
|
|
NM_022489.4(INF2):c.2489G>C (p.Gly830Ala)
|
rs377340315
|
|
NM_022489.4(INF2):c.251T>C (p.Leu84Pro)
|
rs1889501966
|
|
NM_022489.4(INF2):c.2523C>A (p.Ser841Arg)
|
|
|
NM_022489.4(INF2):c.2524T>C (p.Ser842Pro)
|
|
|
NM_022489.4(INF2):c.2533A>C (p.Lys845Gln)
|
|
|
NM_022489.4(INF2):c.2538G>T (p.Lys846Asn)
|
rs1890101375
|
|
NM_022489.4(INF2):c.2554C>T (p.Arg852Trp)
|
|
|
NM_022489.4(INF2):c.255G>A (p.Ser85=)
|
rs369037445
|
|
NM_022489.4(INF2):c.2574G>A (p.Val858=)
|
rs371768502
|
|
NM_022489.4(INF2):c.257G>T (p.Gly86Val)
|
rs1566777637
|
|
NM_022489.4(INF2):c.2599G>C (p.Glu867Gln)
|
rs777850657
|
|
NM_022489.4(INF2):c.2611-3_2766delinsA
|
rs1890116449
|
|
NM_022489.4(INF2):c.261_262dup (p.Gly88fs)
|
|
|
NM_022489.4(INF2):c.2621C>T (p.Ser874Leu)
|
|
|
NM_022489.4(INF2):c.262G>A (p.Gly88Ser)
|
rs766891612
|
|
NM_022489.4(INF2):c.262G>T (p.Gly88Cys)
|
rs766891612
|
|
NM_022489.4(INF2):c.265G>A (p.Val89Ile)
|
rs765566674
|
|
NM_022489.4(INF2):c.2664G>T (p.Gln888His)
|
|
|
NM_022489.4(INF2):c.2684A>G (p.Asp895Gly)
|
rs1890119751
|
|
NM_022489.4(INF2):c.2693G>T (p.Cys898Phe)
|
rs1890119995
|
|
NM_022489.4(INF2):c.26G>C (p.Arg9Pro)
|
|
|
NM_022489.4(INF2):c.2709G>C (p.Gln903His)
|
rs762803590
|
|
NM_022489.4(INF2):c.2714C>T (p.Ser905Phe)
|
|
|
NM_022489.4(INF2):c.271C>T (p.Arg91Cys)
|
rs200247054
|
|
NM_022489.4(INF2):c.2726C>T (p.Thr909Met)
|
rs201336550
|
|
NM_022489.4(INF2):c.272G>T (p.Arg91Leu)
|
|
|
NM_022489.4(INF2):c.2749C>T (p.Arg917Trp)
|
rs778308700
|
|
NM_022489.4(INF2):c.2767_2773del (p.Ala923fs)
|
rs1566785235
|
|
NM_022489.4(INF2):c.2768C>T (p.Ala923Val)
|
|
|
NM_022489.4(INF2):c.2775+6G>A
|
rs2140693103
|
|
NM_022489.4(INF2):c.2776-6G>A
|
|
|
NM_022489.4(INF2):c.2778G>C (p.Glu926Asp)
|
|
|
NM_022489.4(INF2):c.2789G>T (p.Arg930Leu)
|
|
|
NM_022489.4(INF2):c.2812G>A (p.Glu938Lys)
|
rs1595178511
|
|
NM_022489.4(INF2):c.281A>G (p.Asp94Gly)
|
rs1889506126
|
|
NM_022489.4(INF2):c.283G>A (p.Ala95Thr)
|
|
|
NM_022489.4(INF2):c.2845G>A (p.Ala949Thr)
|
rs2140695225
|
|
NM_022489.4(INF2):c.2846C>G (p.Ala949Gly)
|
rs912951002
|
|
NM_022489.4(INF2):c.2855C>T (p.Pro952Leu)
|
|
|
NM_022489.4(INF2):c.2858G>C (p.Arg953Pro)
|
|
|
NM_022489.4(INF2):c.2868C>G (p.Asp956Glu)
|
rs748088770
|
|
NM_022489.4(INF2):c.2875C>T (p.Pro959Ser)
|
rs369417066
|
|
NM_022489.4(INF2):c.2877T>C (p.Pro959=)
|
rs1890143462
|
|
NM_022489.4(INF2):c.2878+19_2878+48dup
|
|
|
NM_022489.4(INF2):c.2900AGG[2] (p.Glu969del)
|
|
|
NM_022489.4(INF2):c.2905G>A (p.Glu969Lys)
|
rs1890151516
|
|
NM_022489.4(INF2):c.2906A>T (p.Glu969Val)
|
|
|
NM_022489.4(INF2):c.290T>G (p.Leu97Arg)
|
|
|
NM_022489.4(INF2):c.2938A>G (p.Ile980Val)
|
|
|
NM_022489.4(INF2):c.2942G>C (p.Arg981Thr)
|
|
|
NM_022489.4(INF2):c.2944A>G (p.Lys982Glu)
|
|
|
NM_022489.4(INF2):c.2959C>T (p.Arg987Trp)
|
rs777407891
|
|
NM_022489.4(INF2):c.2977C>G (p.Arg993Gly)
|
rs935688609
|
|
NM_022489.4(INF2):c.2980G>A (p.Gly994Arg)
|
|
|
NM_022489.4(INF2):c.2984A>G (p.Asp995Gly)
|
rs748234626
|
|
NM_022489.4(INF2):c.2994_2996del (p.Gly999del)
|
|
|
NM_022489.4(INF2):c.2996dup (p.Ser1000fs)
|
rs1566785725
|
|
NM_022489.4(INF2):c.3001A>G (p.Lys1001Glu)
|
|
|
NM_022489.4(INF2):c.304G>C (p.Val102Leu)
|
|
|
NM_022489.4(INF2):c.3059C>A (p.Ala1020Glu)
|
rs368372551
|
|
NM_022489.4(INF2):c.3080C>G (p.Thr1027Arg)
|
|
|
NM_022489.4(INF2):c.3091G>C (p.Ala1031Pro)
|
rs1050761365
|
|
NM_022489.4(INF2):c.3103G>C (p.Gly1035Arg)
|
rs368995122
|
|
NM_022489.4(INF2):c.3119C>A (p.Thr1040Lys)
|
|
|
NM_022489.4(INF2):c.3122C>G (p.Ala1041Gly)
|
rs770095888
|
|
NM_022489.4(INF2):c.3145C>A (p.Leu1049Ile)
|
|
|
NM_022489.4(INF2):c.3153C>A (p.Asp1051Glu)
|
rs117457867
|
|
NM_022489.4(INF2):c.3174G>C (p.Gln1058His)
|
|
|
NM_022489.4(INF2):c.3179C>T (p.Thr1060Ile)
|
|
|
NM_022489.4(INF2):c.3205C>T (p.Pro1069Ser)
|
rs1209329545
|
|
NM_022489.4(INF2):c.3206_3207inv (p.Pro1069Leu)
|
|
|
NM_022489.4(INF2):c.3207_3208delinsCT (p.Arg1070Trp)
|
rs1890195225
|
|
NM_022489.4(INF2):c.320_322del (p.Ala107del)
|
rs1889509458
|
|
NM_022489.4(INF2):c.322del (p.Val108fs)
|
rs2140639383
|
|
NM_022489.4(INF2):c.3241G>C (p.Asp1081His)
|
rs571986941
|
|
NM_022489.4(INF2):c.325A>T (p.Met109Leu)
|
rs1889510098
|
|
NM_022489.4(INF2):c.3271C>T (p.Pro1091Ser)
|
|
|
NM_022489.4(INF2):c.3325C>T (p.Gln1109Ter)
|
|
|
NM_022489.4(INF2):c.3329C>A (p.Ala1110Asp)
|
rs2140700719
|
|
NM_022489.4(INF2):c.332C>T (p.Ser111Leu)
|
|
|
NM_022489.4(INF2):c.3340C>G (p.Leu1114Val)
|
|
|
NM_022489.4(INF2):c.3356A>G (p.Asn1119Ser)
|
|
|
NM_022489.4(INF2):c.3361C>T (p.Pro1121Ser)
|
rs1248997686
|
|
NM_022489.4(INF2):c.3365C>T (p.Pro1122Leu)
|
rs1422015907
|
|
NM_022489.4(INF2):c.3374G>C (p.Gly1125Ala)
|
|
|
NM_022489.4(INF2):c.3384G>C (p.Arg1128Ser)
|
|
|
NM_022489.4(INF2):c.338A>G (p.Gln113Arg)
|
rs1889511010
|
|
NM_022489.4(INF2):c.338A>T (p.Gln113Leu)
|
|
|
NM_022489.4(INF2):c.3414G>T (p.Leu1138=)
|
|
|
NM_022489.4(INF2):c.3439A>C (p.Ser1147Arg)
|
|
|
NM_022489.4(INF2):c.3439A>G (p.Ser1147Gly)
|
rs1890205376
|
|
NM_022489.4(INF2):c.344T>G (p.Ile115Ser)
|
rs2140639483
|
|
NM_022489.4(INF2):c.3467T>C (p.Val1156Ala)
|
rs1166494154
|
|
NM_022489.4(INF2):c.346G>A (p.Glu116Lys)
|
|
|
NM_022489.4(INF2):c.3472A>G (p.Ser1158Gly)
|
rs1890207111
|
|
NM_022489.4(INF2):c.34G>A (p.Ala12Thr)
|
rs201814557
|
|
NM_022489.4(INF2):c.3511G>T (p.Asp1171Tyr)
|
|
|
NM_022489.4(INF2):c.3519CGAGGA[1] (p.1171DE[2])
|
rs748373029
|
|
NM_022489.4(INF2):c.3538G>T (p.Ala1180Ser)
|
rs1890210294
|
|
NM_022489.4(INF2):c.3563C>G (p.Ser1188Cys)
|
rs201715539
|
|
NM_022489.4(INF2):c.3579C>G (p.Phe1193Leu)
|
rs1555375657
|
|
NM_022489.4(INF2):c.3583G>C (p.Glu1195Gln)
|
rs1064796974
|
|
NM_022489.4(INF2):c.3598G>C (p.Asp1200His)
|
rs764338863
|
|
NM_022489.4(INF2):c.3604T>C (p.Ser1202Pro)
|
rs1890213193
|
|
NM_022489.4(INF2):c.3614G>A (p.Gly1205Asp)
|
rs956685612
|
|
NM_022489.4(INF2):c.3623C>T (p.Pro1208Leu)
|
|
|
NM_022489.4(INF2):c.3643_3653del (p.Ser1215fs)
|
rs762985148
|
|
NM_022489.4(INF2):c.364C>G (p.Gln122Glu)
|
rs1428719320
|
|
NM_022489.4(INF2):c.3662G>A (p.Arg1221Gln)
|
rs754128326
|
|
NM_022489.4(INF2):c.3665G>A (p.Arg1222Lys)
|
|
|
NM_022489.4(INF2):c.3694+5C>T
|
rs1890217788
|
|
NM_022489.4(INF2):c.3698T>A (p.Val1233Asp)
|
|
|
NM_022489.4(INF2):c.369del (p.Tyr124fs)
|
|
|
NM_022489.4(INF2):c.3700C>T (p.Pro1234Ser)
|
rs2140703863
|
|
NM_022489.4(INF2):c.3709del (p.Ser1237fs)
|
|
|
NM_022489.4(INF2):c.3712GAT[1] (p.Asp1239del)
|
rs1236644699
|
|
NM_022489.4(INF2):c.3714T>A (p.Asp1238Glu)
|
rs775075672
|
|
NM_022489.4(INF2):c.3715G>A (p.Asp1239Asn)
|
|
|
NM_022489.4(INF2):c.3717T>A (p.Asp1239Glu)
|
|
|
NM_022489.4(INF2):c.3725_3728del (p.Thr1242fs)
|
rs1349764218
|
|
NM_022489.4(INF2):c.3729_3732del (p.Lys1243fs)
|
rs1566787039
|
|
NM_022489.4(INF2):c.3730A>G (p.Lys1244Glu)
|
rs1323987101
|
|
NM_022489.4(INF2):c.3731A>G (p.Lys1244Arg)
|
|
|
NM_022489.4(INF2):c.373G>A (p.Val125Met)
|
rs762621935
|
|
NM_022489.4(INF2):c.3740_3741del (p.Val1247fs)
|
rs753327806
|
|
NM_022489.4(INF2):c.3746A>T (p.Gln1249Leu)
|
rs1890248105
|
|
NM_022489.4(INF2):c.3750A>C (p.Ter1250Tyr)
|
|
|
NM_022489.4(INF2):c.391+6C>A
|
|
|
NM_022489.4(INF2):c.427G>A (p.Val143Met)
|
rs1237835000
|
|
NM_022489.4(INF2):c.440T>C (p.Leu147Pro)
|
rs1555373588
|
|
NM_022489.4(INF2):c.446C>T (p.Ala149Val)
|
|
|
NM_022489.4(INF2):c.456C>G (p.Ile152Met)
|
|
|
NM_022489.4(INF2):c.466G>A (p.Glu156Lys)
|
|
|
NM_022489.4(INF2):c.475G>T (p.Val159Leu)
|
rs781188543
|
|
NM_022489.4(INF2):c.490G>A (p.Ala164Thr)
|
|
|
NM_022489.4(INF2):c.507+3G>T
|
|
|
NM_022489.4(INF2):c.507+4G>T
|
|
|
NM_022489.4(INF2):c.554T>C (p.Leu185Pro)
|
rs1555373625
|
|
NM_022489.4(INF2):c.565G>A (p.Asp189Asn)
|
rs753287786
|
|
NM_022489.4(INF2):c.583G>A (p.Val195Ile)
|
rs1595166165
|
|
NM_022489.4(INF2):c.583G>T (p.Val195Phe)
|
rs1595166165
|
|
NM_022489.4(INF2):c.595A>C (p.Ser199Arg)
|
|
|
NM_022489.4(INF2):c.619G>T (p.Gly207Cys)
|
|
|
NM_022489.4(INF2):c.622C>G (p.Pro208Ala)
|
|
|
NM_022489.4(INF2):c.623C>A (p.Pro208His)
|
|
|
NM_022489.4(INF2):c.625G>A (p.Glu209Lys)
|
rs1012899025
|
|
NM_022489.4(INF2):c.637G>A (p.Ala213Thr)
|
|
|
NM_022489.4(INF2):c.637G>C (p.Ala213Pro)
|
rs778267218
|
|
NM_022489.4(INF2):c.638C>A (p.Ala213Glu)
|
|
|
NM_022489.4(INF2):c.644C>T (p.Thr215Ile)
|
|
|
NM_022489.4(INF2):c.664A>G (p.Ile222Val)
|
rs1889626323
|
|
NM_022489.4(INF2):c.664_666dup (p.Ile222dup)
|
rs1889626434
|
|
NM_022489.4(INF2):c.667+5G>A
|
rs2140648957
|
|
NM_022489.4(INF2):c.67T>G (p.Ser23Ala)
|
rs746964937
|
|
NM_022489.4(INF2):c.685G>A (p.Val229Ile)
|
rs752058170
|
|
NM_022489.4(INF2):c.731A>T (p.Gln244Leu)
|
|
|
NM_022489.4(INF2):c.740C>T (p.Ala247Val)
|
rs1211857426
|
|
NM_022489.4(INF2):c.743T>C (p.Phe248Ser)
|
|
|
NM_022489.4(INF2):c.758_763del (p.Ala253_Glu254del)
|
rs1889767212
|
|
NM_022489.4(INF2):c.760G>A (p.Glu254Lys)
|
rs1595169407
|
|
NM_022489.4(INF2):c.772G>A (p.Glu258Lys)
|
|
|
NM_022489.4(INF2):c.77C>T (p.Thr26Met)
|
rs1479164061
|
|
NM_022489.4(INF2):c.781C>T (p.Arg261Ter)
|
|
|
NM_022489.4(INF2):c.798C>A (p.Val266=)
|
rs375005967
|
|
NM_022489.4(INF2):c.799G>C (p.Asp267His)
|
|
|
NM_022489.4(INF2):c.804G>T (p.Met268Ile)
|
|
|
NM_022489.4(INF2):c.83C>T (p.Ala28Val)
|
|
|
NM_022489.4(INF2):c.849C>T (p.Ser283=)
|
|
|
NM_022489.4(INF2):c.854C>T (p.Ser285Phe)
|
rs2140665449
|
|
NM_022489.4(INF2):c.866C>T (p.Ala289Val)
|
|
|
NM_022489.4(INF2):c.878C>T (p.Ser293Leu)
|
|
|
NM_022489.4(INF2):c.923G>A (p.Ser308Asn)
|
|
|
NM_022489.4(INF2):c.940G>A (p.Ala314Thr)
|
rs2140665830
|
|
NM_022489.4(INF2):c.949A>G (p.Ser317Gly)
|
rs762702624
|
|
NM_022489.4(INF2):c.967G>A (p.Val323Met)
|
rs761806103
|
|
NM_022489.4(INF2):c.96C>A (p.Ser32Arg)
|
|
|
NM_022489.4(INF2):c.985+5G>A
|
|
|
NM_022489.4(INF2):c.985+5G>C
|
|
|
NM_022489.4(INF2):c.986C>A (p.Ala329Asp)
|
rs2140666754
|
|
NM_022489.4(INF2):c.994T>G (p.Cys332Gly)
|
rs1399811407
|
|
NM_022489.4(INF2):c.996C>T (p.Cys332=)
|
rs2140666799
|
|
NM_022489.4(INF2):c.997A>G (p.Thr333Ala)
|
rs760664321
|
|
NM_024577.4(SH3TC2):c.1000A>G (p.Met334Val)
|
rs139653980
|
|
NM_024577.4(SH3TC2):c.1001+5G>T
|
rs1754315788
|
|
NM_024577.4(SH3TC2):c.101C>A (p.Ala34Asp)
|
rs1444603403
|
|
NM_024577.4(SH3TC2):c.1031A>G (p.Glu344Gly)
|
rs753849885
|
|
NM_024577.4(SH3TC2):c.1040G>C (p.Cys347Ser)
|
rs1271507097
|
|
NM_024577.4(SH3TC2):c.1057G>C (p.Gly353Arg)
|
rs1299916015
|
|
NM_024577.4(SH3TC2):c.1061G>C (p.Ser354Thr)
|
|
|
NM_024577.4(SH3TC2):c.106T>C (p.Ser36Pro)
|
rs1580917049
|
|
NM_024577.4(SH3TC2):c.1102G>A (p.Ala368Thr)
|
rs2127398548
|
|
NM_024577.4(SH3TC2):c.1106G>T (p.Arg369Leu)
|
rs551803988
|
|
NM_024577.4(SH3TC2):c.1135+3G>A
|
|
|
NM_024577.4(SH3TC2):c.1138G>A (p.Gly380Arg)
|
rs761184149
|
|
NM_024577.4(SH3TC2):c.1152C>G (p.Ile384Met)
|
|
|
NM_024577.4(SH3TC2):c.1172T>C (p.Leu391Pro)
|
rs141544031
|
|
NM_024577.4(SH3TC2):c.1177+5G>A
|
rs1561765688
|
|
NM_024577.4(SH3TC2):c.1178-11T>C
|
|
|
NM_024577.4(SH3TC2):c.1178-8C>A
|
rs202042438
|
|
NM_024577.4(SH3TC2):c.1184A>C (p.Gln395Pro)
|
|
|
NM_024577.4(SH3TC2):c.1190A>G (p.Glu397Gly)
|
|
|
NM_024577.4(SH3TC2):c.1193_1194delinsCC (p.Gly398Ala)
|
rs2127397715
|
|
NM_024577.4(SH3TC2):c.1204G>C (p.Val402Leu)
|
rs549821020
|
|
NM_024577.4(SH3TC2):c.1205T>C (p.Val402Ala)
|
|
|
NM_024577.4(SH3TC2):c.1209G>C (p.Arg403Ser)
|
rs1212536660
|
|
NM_024577.4(SH3TC2):c.1211C>T (p.Pro404Leu)
|
rs774001683
|
|
NM_024577.4(SH3TC2):c.1213G>T (p.Gly405Cys)
|
|
|
NM_024577.4(SH3TC2):c.1223G>T (p.Trp408Leu)
|
rs777133915
|
|
NM_024577.4(SH3TC2):c.1228G>A (p.Glu410Lys)
|
rs1309091718
|
|
NM_024577.4(SH3TC2):c.1244G>C (p.Gly415Ala)
|
rs1561765509
|
|
NM_024577.4(SH3TC2):c.1244G>T (p.Gly415Val)
|
rs1561765509
|
|
NM_024577.4(SH3TC2):c.1253A>C (p.Gln418Pro)
|
rs1441405268
|
|
NM_024577.4(SH3TC2):c.1271A>C (p.Asp424Ala)
|
|
|
NM_024577.4(SH3TC2):c.1272C>G (p.Asp424Glu)
|
rs377342074
|
|
NM_024577.4(SH3TC2):c.1273T>G (p.Ser425Ala)
|
rs1469647354
|
|
NM_024577.4(SH3TC2):c.1297T>C (p.Ser433Pro)
|
|
|
NM_024577.4(SH3TC2):c.1300G>A (p.Ala434Thr)
|
rs1368926236
|
|
NM_024577.4(SH3TC2):c.1306T>A (p.Ser436Thr)
|
rs1754119445
|
|
NM_024577.4(SH3TC2):c.1311C>G (p.Asp437Glu)
|
rs749587305
|
|
NM_024577.4(SH3TC2):c.1338C>A (p.Asp446Glu)
|
rs1580901388
|
|
NM_024577.4(SH3TC2):c.1340T>C (p.Leu447Pro)
|
|
|
NM_024577.4(SH3TC2):c.1346A>G (p.Asp449Gly)
|
rs1489505012
|
|
NM_024577.4(SH3TC2):c.1347C>A (p.Asp449Glu)
|
|
|
NM_024577.4(SH3TC2):c.1360A>G (p.Met454Val)
|
rs1554121765
|
|
NM_024577.4(SH3TC2):c.1373C>A (p.Thr458Asn)
|
rs1234062925
|
|
NM_024577.4(SH3TC2):c.1391C>T (p.Ala464Val)
|
|
|
NM_024577.4(SH3TC2):c.1401C>A (p.Phe467Leu)
|
rs150950962
|
|
NM_024577.4(SH3TC2):c.1408A>G (p.Ile470Val)
|
rs779447016
|
|
NM_024577.4(SH3TC2):c.1427A>G (p.His476Arg)
|
rs1673272488
|
|
NM_024577.4(SH3TC2):c.142A>T (p.Ile48Phe)
|
rs543440112
|
|
NM_024577.4(SH3TC2):c.1451A>T (p.Lys484Met)
|
|
|
NM_024577.4(SH3TC2):c.1463A>G (p.Asp488Gly)
|
rs1416723910
|
|
NM_024577.4(SH3TC2):c.1468T>C (p.Ser490Pro)
|
rs372841815
|
|
NM_024577.4(SH3TC2):c.1469_1471del (p.Ser490del)
|
rs755728218
|
|
NM_024577.4(SH3TC2):c.1490C>T (p.Ser497Phe)
|
rs768299505
|
|
NM_024577.4(SH3TC2):c.1504T>C (p.Ser502Pro)
|
rs1754109858
|
|
NM_024577.4(SH3TC2):c.1531C>G (p.Leu511Val)
|
rs1437440770
|
|
NM_024577.4(SH3TC2):c.1537G>T (p.Ala513Ser)
|
rs1554121737
|
|
NM_024577.4(SH3TC2):c.1579C>T (p.His527Tyr)
|
|
|
NM_024577.4(SH3TC2):c.1589T>C (p.Leu530Pro)
|
|
|
NM_024577.4(SH3TC2):c.1597C>T (p.Leu533Phe)
|
rs1554121725
|
|
NM_024577.4(SH3TC2):c.1603_1611del (p.Gly535_Leu537del)
|
|
|
NM_024577.4(SH3TC2):c.160C>T (p.Leu54Phe)
|
rs759220976
|
|
NM_024577.4(SH3TC2):c.1619G>A (p.Arg540Lys)
|
|
|
NM_024577.4(SH3TC2):c.1627A>G (p.Lys543Glu)
|
rs2127397529
|
|
NM_024577.4(SH3TC2):c.1654G>C (p.Glu552Gln)
|
rs551953142
|
|
NM_024577.4(SH3TC2):c.165C>T (p.Ser55=)
|
|
|
NM_024577.4(SH3TC2):c.1689G>C (p.Glu563Asp)
|
|
|
NM_024577.4(SH3TC2):c.169T>G (p.Cys57Gly)
|
|
|
NM_024577.4(SH3TC2):c.172G>A (p.Val58Ile)
|
|
|
NM_024577.4(SH3TC2):c.1738C>A (p.Leu580Met)
|
rs1561765207
|
|
NM_024577.4(SH3TC2):c.1754G>A (p.Arg585Lys)
|
rs1754104023
|
|
NM_024577.4(SH3TC2):c.1798G>A (p.Ala600Thr)
|
|
|
NM_024577.4(SH3TC2):c.1823G>A (p.Ser608Asn)
|
|
|
NM_024577.4(SH3TC2):c.1837C>T (p.Leu613Phe)
|
|
|
NM_024577.4(SH3TC2):c.1840G>T (p.Asp614Tyr)
|
rs201789838
|
|
NM_024577.4(SH3TC2):c.1849G>A (p.Ala617Thr)
|
|
|
NM_024577.4(SH3TC2):c.1856T>A (p.Val619Glu)
|
rs1196218767
|
|
NM_024577.4(SH3TC2):c.1869G>T (p.Gly623=)
|
rs1219611610
|
|
NM_024577.4(SH3TC2):c.1876G>T (p.Val626Leu)
|
rs1311201400
|
|
NM_024577.4(SH3TC2):c.187A>G (p.Arg63Gly)
|
|
|
NM_024577.4(SH3TC2):c.1880G>A (p.Gly627Asp)
|
rs1380546665
|
|
NM_024577.4(SH3TC2):c.191G>A (p.Arg64Lys)
|
|
|
NM_024577.4(SH3TC2):c.1922G>T (p.Arg641Leu)
|
rs199991156
|
|
NM_024577.4(SH3TC2):c.1941C>T (p.Gly647=)
|
|
|
NM_024577.4(SH3TC2):c.1948G>A (p.Glu650Lys)
|
|
|
NM_024577.4(SH3TC2):c.1960C>T (p.Pro654Ser)
|
rs1754098320
|
|
NM_024577.4(SH3TC2):c.1988C>G (p.Ser663Cys)
|
rs1754097515
|
|
NM_024577.4(SH3TC2):c.200A>G (p.Asn67Ser)
|
rs772378888
|
|
NM_024577.4(SH3TC2):c.2015T>C (p.Val672Ala)
|
rs1754096756
|
|
NM_024577.4(SH3TC2):c.2027T>C (p.Leu676Ser)
|
|
|
NM_024577.4(SH3TC2):c.2051A>G (p.Tyr684Cys)
|
|
|
NM_024577.4(SH3TC2):c.2060A>G (p.His687Arg)
|
rs1171441665
|
|
NM_024577.4(SH3TC2):c.2062C>A (p.Leu688Ile)
|
rs773433720
|
|
NM_024577.4(SH3TC2):c.2089G>A (p.Gly697Ser)
|
|
|
NM_024577.4(SH3TC2):c.2090G>T (p.Gly697Val)
|
rs2127397326
|
|
NM_024577.4(SH3TC2):c.2116C>A (p.Leu706Ile)
|
rs1317532477
|
|
NM_024577.4(SH3TC2):c.2198C>A (p.Ser733Tyr)
|
rs2127397284
|
|
NM_024577.4(SH3TC2):c.21C>G (p.Ile7Met)
|
|
|
NM_024577.4(SH3TC2):c.2201C>T (p.Ala734Val)
|
|
|
NM_024577.4(SH3TC2):c.2218C>T (p.Leu740Phe)
|
rs2127397272
|
|
NM_024577.4(SH3TC2):c.2230C>G (p.Leu744Val)
|
rs962648069
|
|
NM_024577.4(SH3TC2):c.2263A>C (p.Thr755Pro)
|
rs1332446150
|
|
NM_024577.4(SH3TC2):c.2275C>A (p.Leu759Met)
|
rs1754090424
|
|
NM_024577.4(SH3TC2):c.227G>C (p.Arg76Thr)
|
rs1754493155
|
|
NM_024577.4(SH3TC2):c.2285T>C (p.Ile762Thr)
|
rs751351645
|
|
NM_024577.4(SH3TC2):c.2288T>C (p.Leu763Pro)
|
rs1580900331
|
|
NM_024577.4(SH3TC2):c.2297T>C (p.Val766Ala)
|
|
|
NM_024577.4(SH3TC2):c.2299T>C (p.Tyr767His)
|
rs2127397225
|
|
NM_024577.4(SH3TC2):c.2302C>T (p.Leu768Phe)
|
|
|
NM_024577.4(SH3TC2):c.2311A>G (p.Arg771Gly)
|
rs1754089250
|
|
NM_024577.4(SH3TC2):c.2362C>A (p.Gln788Lys)
|
|
|
NM_024577.4(SH3TC2):c.2386T>C (p.Phe796Leu)
|
|
|
NM_024577.4(SH3TC2):c.2398C>G (p.Leu800Val)
|
|
|
NM_024577.4(SH3TC2):c.239C>A (p.Ala80Glu)
|
|
|
NM_024577.4(SH3TC2):c.2410T>G (p.Trp804Gly)
|
|
|
NM_024577.4(SH3TC2):c.2411G>C (p.Trp804Ser)
|
|
|
NM_024577.4(SH3TC2):c.2414C>T (p.Ala805Val)
|
|
|
NM_024577.4(SH3TC2):c.2429G>A (p.Ser810Asn)
|
|
|
NM_024577.4(SH3TC2):c.2433G>T (p.Gln811His)
|
rs746538256
|
|
NM_024577.4(SH3TC2):c.2458G>A (p.Glu820Lys)
|
rs1754083548
|
|
NM_024577.4(SH3TC2):c.2534C>T (p.Ala845Val)
|
|
|
NM_024577.4(SH3TC2):c.2549G>C (p.Gly850Ala)
|
rs749133472
|
|
NM_024577.4(SH3TC2):c.2551C>G (p.Arg851Gly)
|
|
|
NM_024577.4(SH3TC2):c.2551_2552delinsAA (p.Arg851Lys)
|
|
|
NM_024577.4(SH3TC2):c.2555T>G (p.Val852Gly)
|
|
|
NM_024577.4(SH3TC2):c.2576A>G (p.Tyr859Cys)
|
|
|
NM_024577.4(SH3TC2):c.2578C>G (p.Leu860Val)
|
rs139958177
|
|
NM_024577.4(SH3TC2):c.2582G>C (p.Arg861Pro)
|
rs142971473
|
|
NM_024577.4(SH3TC2):c.2600A>T (p.Gln867Leu)
|
|
|
NM_024577.4(SH3TC2):c.2609G>A (p.Gly870Glu)
|
rs1754079774
|
|
NM_024577.4(SH3TC2):c.2615T>C (p.Val872Ala)
|
|
|
NM_024577.4(SH3TC2):c.2664G>T (p.Lys888Asn)
|
|
|
NM_024577.4(SH3TC2):c.266G>T (p.Arg89Leu)
|
rs189591944
|
|
NM_024577.4(SH3TC2):c.2717A>G (p.Tyr906Cys)
|
|
|
NM_024577.4(SH3TC2):c.2738A>G (p.Lys913Arg)
|
rs2127397025
|
|
NM_024577.4(SH3TC2):c.2744C>T (p.Thr915Ile)
|
rs1754076431
|
|
NM_024577.4(SH3TC2):c.275T>C (p.Phe92Ser)
|
rs2127402247
|
|
NM_024577.4(SH3TC2):c.2780C>T (p.Ala927Val)
|
rs1754076016
|
|
NM_024577.4(SH3TC2):c.2785G>C (p.Val929Leu)
|
rs2127397007
|
|
NM_024577.4(SH3TC2):c.280-3T>C
|
|
|
NM_024577.4(SH3TC2):c.2818C>T (p.Leu940Phe)
|
rs1380115510
|
|
NM_024577.4(SH3TC2):c.282C>G (p.Asp94Glu)
|
rs1453743523
|
|
NM_024577.4(SH3TC2):c.2833A>G (p.Met945Val)
|
|
|
NM_024577.4(SH3TC2):c.2836G>T (p.Ala946Ser)
|
rs765951062
|
|
NM_024577.4(SH3TC2):c.283C>T (p.Leu95Phe)
|
rs541695222
|
|
NM_024577.4(SH3TC2):c.2859T>A (p.His953Gln)
|
|
|
NM_024577.4(SH3TC2):c.2864A>C (p.His955Pro)
|
rs1754073175
|
|
NM_024577.4(SH3TC2):c.2864A>T (p.His955Leu)
|
|
|
NM_024577.4(SH3TC2):c.2872+4_2872+7del
|
rs1754073023
|
|
NM_024577.4(SH3TC2):c.2873G>A (p.Ser958Asn)
|
rs1205847384
|
|
NM_024577.4(SH3TC2):c.2884G>C (p.Ala962Pro)
|
|
|
NM_024577.4(SH3TC2):c.2887A>G (p.Thr963Ala)
|
|
|
NM_024577.4(SH3TC2):c.2888C>T (p.Thr963Ile)
|
|
|
NM_024577.4(SH3TC2):c.2897T>C (p.Leu966Pro)
|
rs1060501469
|
|
NM_024577.4(SH3TC2):c.2909A>G (p.Tyr970Cys)
|
|
|
NM_024577.4(SH3TC2):c.2923C>G (p.Pro975Ala)
|
rs1554121529
|
|
NM_024577.4(SH3TC2):c.2935G>T (p.Ala979Ser)
|
rs369258246
|
|
NM_024577.4(SH3TC2):c.2942_2944dup (p.Ile981dup)
|
rs2127396888
|
|
NM_024577.4(SH3TC2):c.2957A>G (p.His986Arg)
|
rs1580899530
|
|
NM_024577.4(SH3TC2):c.295T>A (p.Leu99Met)
|
rs1561770787
|
|
NM_024577.4(SH3TC2):c.2965G>A (p.Ala989Thr)
|
|
|
NM_024577.4(SH3TC2):c.2981T>C (p.Leu994Pro)
|
rs2127396874
|
|
NM_024577.4(SH3TC2):c.2995A>G (p.Met999Val)
|
|
|
NM_024577.4(SH3TC2):c.3006G>T (p.Arg1002Ser)
|
|
|
NM_024577.4(SH3TC2):c.3023G>C (p.Gly1008Ala)
|
rs2127396858
|
|
NM_024577.4(SH3TC2):c.3028C>T (p.Leu1010Phe)
|
rs1243271992
|
|
NM_024577.4(SH3TC2):c.304A>G (p.Ile102Val)
|
rs2127401449
|
|
NM_024577.4(SH3TC2):c.3053+11G>T
|
|
|
NM_024577.4(SH3TC2):c.308A>T (p.Gln103Leu)
|
|
|
NM_024577.4(SH3TC2):c.3099C>G (p.Ile1033Met)
|
rs1554120576
|
|
NM_024577.4(SH3TC2):c.30G>T (p.Glu10Asp)
|
rs755666455
|
|
NM_024577.4(SH3TC2):c.3110T>A (p.Leu1037Gln)
|
rs1580891410
|
|
NM_024577.4(SH3TC2):c.3117G>C (p.Glu1039Asp)
|
|
|
NM_024577.4(SH3TC2):c.311C>G (p.Ser104Cys)
|
|
|
NM_024577.4(SH3TC2):c.3146G>T (p.Gly1049Val)
|
rs2127393379
|
|
NM_024577.4(SH3TC2):c.3155G>A (p.Arg1052Gln)
|
|
|
NM_024577.4(SH3TC2):c.315G>C (p.Gln105His)
|
rs1754426829
|
|
NM_024577.4(SH3TC2):c.3175G>A (p.Glu1059Lys)
|
|
|
NM_024577.4(SH3TC2):c.3181G>A (p.Glu1061Lys)
|
rs760656119
|
|
NM_024577.4(SH3TC2):c.3212T>C (p.Ile1071Thr)
|
|
|
NM_024577.4(SH3TC2):c.322_324del (p.Gln108del)
|
|
|
NM_024577.4(SH3TC2):c.3269C>G (p.Ala1090Gly)
|
|
|
NM_024577.4(SH3TC2):c.3277G>A (p.Val1093Met)
|
rs2127392867
|
|
NM_024577.4(SH3TC2):c.3316G>A (p.Glu1106Lys)
|
|
|
NM_024577.4(SH3TC2):c.3327+6T>G
|
|
|
NM_024577.4(SH3TC2):c.3362C>A (p.Ala1121Glu)
|
rs115577291
|
|
NM_024577.4(SH3TC2):c.3364G>A (p.Val1122Met)
|
rs1554120326
|
|
NM_024577.4(SH3TC2):c.3371C>T (p.Thr1124Ile)
|
rs752094727
|
|
NM_024577.4(SH3TC2):c.3379C>T (p.Arg1127Trp)
|
rs1580888993
|
|
NM_024577.4(SH3TC2):c.3386T>C (p.Phe1129Ser)
|
|
|
NM_024577.4(SH3TC2):c.3418G>A (p.Glu1140Lys)
|
|
|
NM_024577.4(SH3TC2):c.3433G>T (p.Ala1145Ser)
|
rs141715248
|
|
NM_024577.4(SH3TC2):c.343A>C (p.Thr115Pro)
|
|
|
NM_024577.4(SH3TC2):c.3443T>C (p.Phe1148Ser)
|
rs1753736056
|
|
NM_024577.4(SH3TC2):c.3457G>A (p.Ala1153Thr)
|
rs778351829
|
|
NM_024577.4(SH3TC2):c.3478+4G>A
|
|
|
NM_024577.4(SH3TC2):c.3491A>T (p.Gln1164Leu)
|
|
|
NM_024577.4(SH3TC2):c.3500T>G (p.Val1167Gly)
|
rs2127392009
|
|
NM_024577.4(SH3TC2):c.3512G>A (p.Arg1171His)
|
rs200728983
|
|
NM_024577.4(SH3TC2):c.3512G>C (p.Arg1171Pro)
|
rs200728983
|
|
NM_024577.4(SH3TC2):c.3543G>A (p.Met1181Ile)
|
|
|
NM_024577.4(SH3TC2):c.3589C>T (p.Pro1197Ser)
|
rs1343590454
|
|
NM_024577.4(SH3TC2):c.3592C>T (p.Pro1198Ser)
|
rs1561756981
|
|
NM_024577.4(SH3TC2):c.3593_3594inv (p.Pro1198Leu)
|
|
|
NM_024577.4(SH3TC2):c.3602A>T (p.Gln1201Leu)
|
rs776962303
|
|
NM_024577.4(SH3TC2):c.3607C>A (p.Pro1203Thr)
|
|
|
NM_024577.4(SH3TC2):c.3613G>A (p.Glu1205Lys)
|
rs926087682
|
|
NM_024577.4(SH3TC2):c.3617C>A (p.Ala1206Asp)
|
rs1753699992
|
|
NM_024577.4(SH3TC2):c.362A>C (p.Lys121Thr)
|
rs1580912012
|
|
NM_024577.4(SH3TC2):c.362A>T (p.Lys121Met)
|
rs1580912012
|
|
NM_024577.4(SH3TC2):c.3634G>A (p.Val1212Met)
|
rs756174696
|
|
NM_024577.4(SH3TC2):c.3643C>T (p.Arg1215Cys)
|
rs267600481
|
|
NM_024577.4(SH3TC2):c.3650del (p.Gly1217fs)
|
rs369695480
|
|
NM_024577.4(SH3TC2):c.3667C>G (p.Gln1223Glu)
|
|
|
NM_024577.4(SH3TC2):c.3676-1G>A
|
rs1306229414
|
|
NM_024577.4(SH3TC2):c.367T>C (p.Ser123Pro)
|
|
|
NM_024577.4(SH3TC2):c.3684T>A (p.His1228Gln)
|
rs1753659994
|
|
NM_024577.4(SH3TC2):c.3688G>A (p.Ala1230Thr)
|
|
|
NM_024577.4(SH3TC2):c.3728T>C (p.Leu1243Pro)
|
|
|
NM_024577.4(SH3TC2):c.3768G>T (p.Arg1256Ser)
|
|
|
NM_024577.4(SH3TC2):c.3779T>G (p.Ile1260Ser)
|
rs1753657850
|
|
NM_024577.4(SH3TC2):c.3784C>G (p.Gln1262Glu)
|
|
|
NM_024577.4(SH3TC2):c.3789C>A (p.Ser1263Arg)
|
rs1210794926
|
|
NM_024577.4(SH3TC2):c.3790C>G (p.Pro1264Ala)
|
rs945895550
|
|
NM_024577.4(SH3TC2):c.3791C>G (p.Pro1264Arg)
|
rs1753657395
|
|
NM_024577.4(SH3TC2):c.3805A>T (p.Arg1269Trp)
|
rs1753656892
|
|
NM_024577.4(SH3TC2):c.3806G>C (p.Arg1269Thr)
|
|
|
NM_024577.4(SH3TC2):c.3807G>T (p.Arg1269Ser)
|
rs370090569
|
|
NM_024577.4(SH3TC2):c.3846TGG[2] (p.Gly1285del)
|
rs1554120043
|
|
NM_024577.4(SH3TC2):c.3847G>T (p.Gly1283Cys)
|
rs370844006
|
|
NM_024577.4(SH3TC2):c.3851G>A (p.Gly1284Asp)
|
rs771840516
|
|
NM_024577.4(SH3TC2):c.407A>G (p.Glu136Gly)
|
|
|
NM_024577.4(SH3TC2):c.412CTC[1] (p.Leu139del)
|
|
|
NM_024577.4(SH3TC2):c.425A>G (p.His142Arg)
|
rs1168407927
|
|
NM_024577.4(SH3TC2):c.437T>C (p.Leu146Pro)
|
rs2127400975
|
|
NM_024577.4(SH3TC2):c.439A>G (p.Asn147Asp)
|
rs1423301895
|
|
NM_024577.4(SH3TC2):c.43C>T (p.Arg15Trp)
|
|
|
NM_024577.4(SH3TC2):c.440A>G (p.Asn147Ser)
|
|
|
NM_024577.4(SH3TC2):c.452T>C (p.Val151Ala)
|
rs779715536
|
|
NM_024577.4(SH3TC2):c.46G>A (p.Gly16Ser)
|
rs753975938
|
|
NM_024577.4(SH3TC2):c.483T>A (p.Asp161Glu)
|
rs768029461
|
|
NM_024577.4(SH3TC2):c.4G>A (p.Gly2Ser)
|
rs1554124107
|
|
NM_024577.4(SH3TC2):c.508C>G (p.Leu170Val)
|
rs2127400948
|
|
NM_024577.4(SH3TC2):c.515T>G (p.Leu172Arg)
|
rs1408319932
|
|
NM_024577.4(SH3TC2):c.53-5_53-3del
|
|
|
NM_024577.4(SH3TC2):c.530G>A (p.Gly177Asp)
|
|
|
NM_024577.4(SH3TC2):c.535T>G (p.Phe179Val)
|
|
|
NM_024577.4(SH3TC2):c.536TCT[1] (p.Phe180del)
|
rs763476083
|
|
NM_024577.4(SH3TC2):c.538T>G (p.Phe180Val)
|
|
|
NM_024577.4(SH3TC2):c.560T>C (p.Val187Ala)
|
rs1554122762
|
|
NM_024577.4(SH3TC2):c.566C>T (p.Pro189Leu)
|
|
|
NM_024577.4(SH3TC2):c.571G>C (p.Ala191Pro)
|
rs2127400685
|
|
NM_024577.4(SH3TC2):c.581A>G (p.Glu194Gly)
|
|
|
NM_024577.4(SH3TC2):c.588A>T (p.Glu196Asp)
|
|
|
NM_024577.4(SH3TC2):c.601T>G (p.Cys201Gly)
|
|
|
NM_024577.4(SH3TC2):c.602G>A (p.Cys201Tyr)
|
|
|
NM_024577.4(SH3TC2):c.609T>G (p.Asn203Lys)
|
rs1754371704
|
|
NM_024577.4(SH3TC2):c.641G>A (p.Gly214Asp)
|
|
|
NM_024577.4(SH3TC2):c.643T>C (p.Ser215Pro)
|
|
|
NM_024577.4(SH3TC2):c.64C>G (p.Pro22Ala)
|
|
|
NM_024577.4(SH3TC2):c.650T>C (p.Leu217Ser)
|
|
|
NM_024577.4(SH3TC2):c.656G>A (p.Gly219Asp)
|
rs748374150
|
|
NM_024577.4(SH3TC2):c.656G>T (p.Gly219Val)
|
|
|
NM_024577.4(SH3TC2):c.661T>C (p.Ser221Pro)
|
rs747024391
|
|
NM_024577.4(SH3TC2):c.679C>T (p.Arg227Trp)
|
rs532463685
|
|
NM_024577.4(SH3TC2):c.682G>A (p.Gly228Ser)
|
rs751022040
|
|
NM_024577.4(SH3TC2):c.731+4A>G
|
|
|
NM_024577.4(SH3TC2):c.734G>T (p.Trp245Leu)
|
rs751095271
|
|
NM_024577.4(SH3TC2):c.746A>G (p.Asn249Ser)
|
rs760971566
|
|
NM_024577.4(SH3TC2):c.758G>C (p.Ser253Thr)
|
rs2127400485
|
|
NM_024577.4(SH3TC2):c.766C>T (p.Leu256Phe)
|
|
|
NM_024577.4(SH3TC2):c.788C>A (p.Thr263Lys)
|
|
|
NM_024577.4(SH3TC2):c.790G>C (p.Gly264Arg)
|
|
|
NM_024577.4(SH3TC2):c.793T>A (p.Ser265Thr)
|
rs1580909284
|
|
NM_024577.4(SH3TC2):c.826T>A (p.Leu276Met)
|
rs1580908028
|
|
NM_024577.4(SH3TC2):c.828G>C (p.Leu276Phe)
|
rs1754319874
|
|
NM_024577.4(SH3TC2):c.832G>A (p.Gly278Ser)
|
rs1204913371
|
|
NM_024577.4(SH3TC2):c.833G>T (p.Gly278Val)
|
rs757292503
|
|
NM_024577.4(SH3TC2):c.841C>A (p.Pro281Thr)
|
|
|
NM_024577.4(SH3TC2):c.852G>C (p.Lys284Asn)
|
|
|
NM_024577.4(SH3TC2):c.854A>G (p.Asp285Gly)
|
rs763037689
|
|
NM_024577.4(SH3TC2):c.856G>A (p.Glu286Lys)
|
rs2127400005
|
|
NM_024577.4(SH3TC2):c.895G>A (p.Gly299Ser)
|
rs1233598157
|
|
NM_024577.4(SH3TC2):c.8G>A (p.Gly3Asp)
|
rs1465198831
|
|
NM_024577.4(SH3TC2):c.902T>C (p.Val301Ala)
|
rs1754317882
|
|
NM_024577.4(SH3TC2):c.910G>A (p.Gly304Arg)
|
rs1754317705
|
|
NM_024577.4(SH3TC2):c.926T>C (p.Ile309Thr)
|
rs1754317366
|
|
NM_024577.4(SH3TC2):c.947G>A (p.Gly316Glu)
|
rs1251082752
|
|
NM_024577.4(SH3TC2):c.977T>C (p.Ile326Thr)
|
rs1754316407
|
|
NM_024577.4(SH3TC2):c.995C>A (p.Ser332Tyr)
|
|
|
NM_030962.4(SBF2):c.1016C>T (p.Pro339Leu)
|
|
|
NM_030962.4(SBF2):c.1028C>T (p.Thr343Ile)
|
|
|
NM_030962.4(SBF2):c.1045A>G (p.Lys349Glu)
|
rs746685729
|
|
NM_030962.4(SBF2):c.109G>A (p.Asp37Asn)
|
rs759977048
|
|
NM_030962.4(SBF2):c.1102C>G (p.Gln368Glu)
|
rs2134472163
|
|
NM_030962.4(SBF2):c.1112G>C (p.Arg371Thr)
|
|
|
NM_030962.4(SBF2):c.1130T>G (p.Ile377Arg)
|
rs371432409
|
|
NM_030962.4(SBF2):c.1167+4A>G
|
rs1240919799
|
|
NM_030962.4(SBF2):c.116C>T (p.Thr39Ile)
|
rs1957273770
|
|
NM_030962.4(SBF2):c.1183C>A (p.Gln395Lys)
|
rs1590699984
|
|
NM_030962.4(SBF2):c.1189G>T (p.Gly397Cys)
|
rs2134469917
|
|
NM_030962.4(SBF2):c.1214C>G (p.Thr405Ser)
|
rs2134469840
|
|
NM_030962.4(SBF2):c.1216A>G (p.Lys406Glu)
|
rs760704483
|
|
NM_030962.4(SBF2):c.1222C>G (p.Leu408Val)
|
rs1220835376
|
|
NM_030962.4(SBF2):c.1240G>A (p.Ala414Thr)
|
rs1947481086
|
|
NM_030962.4(SBF2):c.1308T>G (p.Phe436Leu)
|
rs2134459399
|
|
NM_030962.4(SBF2):c.1333G>A (p.Glu445Lys)
|
rs1565100821
|
|
NM_030962.4(SBF2):c.1351A>G (p.Met451Val)
|
|
|
NM_030962.4(SBF2):c.1396-3C>G
|
rs375346684
|
|
NM_030962.4(SBF2):c.1399A>G (p.Asn467Asp)
|
|
|
NM_030962.4(SBF2):c.1411C>A (p.His471Asn)
|
|
|
NM_030962.4(SBF2):c.1412A>T (p.His471Leu)
|
rs763176916
|
|
NM_030962.4(SBF2):c.1413T>A (p.His471Gln)
|
rs769911496
|
|
NM_030962.4(SBF2):c.1414A>G (p.Met472Val)
|
rs1590636623
|
|
NM_030962.4(SBF2):c.1441A>G (p.Thr481Ala)
|
|
|
NM_030962.4(SBF2):c.1442C>G (p.Thr481Arg)
|
rs2134388086
|
|
NM_030962.4(SBF2):c.144T>A (p.Phe48Leu)
|
|
|
NM_030962.4(SBF2):c.1517A>C (p.Gln506Pro)
|
rs2134387742
|
|
NM_030962.4(SBF2):c.1520A>G (p.Glu507Gly)
|
|
|
NM_030962.4(SBF2):c.1537C>G (p.Gln513Glu)
|
|
|
NM_030962.4(SBF2):c.1546C>G (p.Pro516Ala)
|
|
|
NM_030962.4(SBF2):c.1553C>A (p.Ala518Asp)
|
rs1474146157
|
|
NM_030962.4(SBF2):c.1555A>G (p.Thr519Ala)
|
rs2134387621
|
|
NM_030962.4(SBF2):c.1571A>C (p.Lys524Thr)
|
rs1207040016
|
|
NM_030962.4(SBF2):c.157G>A (p.Gly53Arg)
|
|
|
NM_030962.4(SBF2):c.1580T>C (p.Val527Ala)
|
rs1867103004
|
|
NM_030962.4(SBF2):c.1600G>C (p.Val534Leu)
|
rs1590635892
|
|
NM_030962.4(SBF2):c.1601-10C>A
|
rs761998992
|
|
NM_030962.4(SBF2):c.1601-3T>G
|
rs2134369689
|
|
NM_030962.4(SBF2):c.1615A>G (p.Lys539Glu)
|
rs775279773
|
|
NM_030962.4(SBF2):c.1618G>T (p.Val540Leu)
|
rs201806063
|
|
NM_030962.4(SBF2):c.1622C>T (p.Thr541Met)
|
rs372109447
|
|
NM_030962.4(SBF2):c.1632C>A (p.Phe544Leu)
|
rs777289065
|
|
NM_030962.4(SBF2):c.1636A>T (p.Ser546Cys)
|
rs2134369489
|
|
NM_030962.4(SBF2):c.1652_1653inv (p.Glu551Val)
|
|
|
NM_030962.4(SBF2):c.1654G>A (p.Val552Ile)
|
|
|
NM_030962.4(SBF2):c.165G>T (p.Gln55His)
|
|
|
NM_030962.4(SBF2):c.1661G>A (p.Arg554Lys)
|
rs1161860280
|
|
NM_030962.4(SBF2):c.1675T>G (p.Phe559Val)
|
|
|
NM_030962.4(SBF2):c.1675_1677inv (p.Phe559Glu)
|
|
|
NM_030962.4(SBF2):c.167T>C (p.Leu56Pro)
|
|
|
NM_030962.4(SBF2):c.1711-5C>A
|
rs770969528
|
|
NM_030962.4(SBF2):c.1758G>C (p.Gln586His)
|
|
|
NM_030962.4(SBF2):c.1768G>A (p.Asp590Asn)
|
rs1565064376
|
|
NM_030962.4(SBF2):c.181A>G (p.Lys61Glu)
|
rs549233218
|
|
NM_030962.4(SBF2):c.1822T>G (p.Phe608Val)
|
rs2134363226
|
|
NM_030962.4(SBF2):c.1831A>T (p.Ile611Leu)
|
rs964428805
|
|
NM_030962.4(SBF2):c.1834A>G (p.Ile612Val)
|
|
|
NM_030962.4(SBF2):c.1837A>G (p.Arg613Gly)
|
|
|
NM_030962.4(SBF2):c.1862A>G (p.Asp621Gly)
|
rs765204789
|
|
NM_030962.4(SBF2):c.187C>T (p.Pro63Ser)
|
|
|
NM_030962.4(SBF2):c.1892C>A (p.Ala631Asp)
|
rs376057124
|
|
NM_030962.4(SBF2):c.1906C>A (p.Pro636Thr)
|
|
|
NM_030962.4(SBF2):c.1911G>C (p.Leu637Phe)
|
rs1373091395
|
|
NM_030962.4(SBF2):c.1925A>G (p.Tyr642Cys)
|
|
|
NM_030962.4(SBF2):c.1928G>A (p.Arg643Lys)
|
|
|
NM_030962.4(SBF2):c.1929+4A>C
|
|
|
NM_030962.4(SBF2):c.1929+4A>G
|
|
|
NM_030962.4(SBF2):c.1931A>C (p.Lys644Thr)
|
rs1857475272
|
|
NM_030962.4(SBF2):c.1953G>C (p.Gln651His)
|
rs2134007186
|
|
NM_030962.4(SBF2):c.1958C>T (p.Ala653Val)
|
rs2134007178
|
|
NM_030962.4(SBF2):c.195C>G (p.Phe65Leu)
|
rs1949709027
|
|
NM_030962.4(SBF2):c.1997A>G (p.Gln666Arg)
|
rs2134006965
|
|
NM_030962.4(SBF2):c.2023A>C (p.Asn675His)
|
|
|
NM_030962.4(SBF2):c.2041G>A (p.Val681Ile)
|
|
|
NM_030962.4(SBF2):c.2083C>G (p.Pro695Ala)
|
|
|
NM_030962.4(SBF2):c.2102A>G (p.Asp701Gly)
|
rs1590235062
|
|
NM_030962.4(SBF2):c.2128_2130del (p.Glu710del)
|
|
|
NM_030962.4(SBF2):c.2140A>G (p.Met714Val)
|
|
|
NM_030962.4(SBF2):c.2149G>A (p.Ala717Thr)
|
|
|
NM_030962.4(SBF2):c.2150C>T (p.Ala717Val)
|
rs1857337701
|
|
NM_030962.4(SBF2):c.215A>C (p.Asp72Ala)
|
rs1060500000
|
|
NM_030962.4(SBF2):c.2203C>G (p.Leu735Val)
|
|
|
NM_030962.4(SBF2):c.2206G>A (p.Val736Met)
|
|
|
NM_030962.4(SBF2):c.2257C>T (p.Leu753Phe)
|
rs1857329536
|
|
NM_030962.4(SBF2):c.2260A>T (p.Met754Leu)
|
rs745452169
|
|
NM_030962.4(SBF2):c.2293A>G (p.Lys765Glu)
|
|
|
NM_030962.4(SBF2):c.2329T>G (p.Trp777Gly)
|
rs1321841784
|
|
NM_030962.4(SBF2):c.2363+15A>G
|
|
|
NM_030962.4(SBF2):c.2381C>T (p.Ala794Val)
|
rs1857121933
|
|
NM_030962.4(SBF2):c.2482A>G (p.Thr828Ala)
|
|
|
NM_030962.4(SBF2):c.2492G>C (p.Gly831Ala)
|
|
|
NM_030962.4(SBF2):c.2513A>G (p.Lys838Arg)
|
|
|
NM_030962.4(SBF2):c.2531T>A (p.Ile844Lys)
|
|
|
NM_030962.4(SBF2):c.2537-10C>G
|
|
|
NM_030962.4(SBF2):c.2537-11A>G
|
|
|
NM_030962.4(SBF2):c.257A>T (p.Tyr86Phe)
|
rs745669920
|
|
NM_030962.4(SBF2):c.2596C>A (p.Pro866Thr)
|
rs1228676321
|
|
NM_030962.4(SBF2):c.2599C>T (p.Pro867Ser)
|
rs1857042661
|
|
NM_030962.4(SBF2):c.2610G>A (p.Lys870=)
|
|
|
NM_030962.4(SBF2):c.2612C>G (p.Pro871Arg)
|
rs1856823248
|
|
NM_030962.4(SBF2):c.2627C>G (p.Pro876Arg)
|
rs912881512
|
|
NM_030962.4(SBF2):c.2653G>T (p.Val885Phe)
|
rs1856820562
|
|
NM_030962.4(SBF2):c.2663G>T (p.Gly888Val)
|
rs777117399
|
|
NM_030962.4(SBF2):c.267G>T (p.Glu89Asp)
|
rs1565165888
|
|
NM_030962.4(SBF2):c.2689G>A (p.Gly897Arg)
|
rs1554924568
|
|
NM_030962.4(SBF2):c.2710G>T (p.Gly904Cys)
|
rs1856816602
|
|
NM_030962.4(SBF2):c.2717T>C (p.Leu906Pro)
|
rs1856816042
|
|
NM_030962.4(SBF2):c.2722G>A (p.Gly908Ser)
|
rs1856815904
|
|
NM_030962.4(SBF2):c.272A>C (p.Asn91Thr)
|
rs1206056257
|
|
NM_030962.4(SBF2):c.2743G>A (p.Glu915Lys)
|
|
|
NM_030962.4(SBF2):c.2743G>C (p.Glu915Gln)
|
|
|
NM_030962.4(SBF2):c.2783G>T (p.Arg928Ile)
|
|
|
NM_030962.4(SBF2):c.2789C>A (p.Thr930Lys)
|
rs755578344
|
|
NM_030962.4(SBF2):c.279+4C>A
|
rs757128114
|
|
NM_030962.4(SBF2):c.2795A>G (p.His932Arg)
|
rs1554924467
|
|
NM_030962.4(SBF2):c.2798A>G (p.Asp933Gly)
|
|
|
NM_030962.4(SBF2):c.280-6_280-5del
|
|
|
NM_030962.4(SBF2):c.2813A>G (p.Glu938Gly)
|
|
|
NM_030962.4(SBF2):c.2827C>T (p.Arg943Trp)
|
rs1324654662
|
|
NM_030962.4(SBF2):c.2839A>G (p.Ile947Val)
|
|
|
NM_030962.4(SBF2):c.2848A>C (p.Ile950Leu)
|
|
|
NM_030962.4(SBF2):c.2863A>G (p.Lys955Glu)
|
rs1856598871
|
|
NM_030962.4(SBF2):c.2867T>C (p.Ile956Thr)
|
rs2133973910
|
|
NM_030962.4(SBF2):c.2894A>G (p.Asn965Ser)
|
rs1008248276
|
|
NM_030962.4(SBF2):c.2897_2898delinsAT (p.Met966Asn)
|
rs2133973790
|
|
NM_030962.4(SBF2):c.2927C>T (p.Ser976Phe)
|
rs1564909729
|
|
NM_030962.4(SBF2):c.293A>G (p.Glu98Gly)
|
|
|
NM_030962.4(SBF2):c.2941A>G (p.Lys981Glu)
|
|
|
NM_030962.4(SBF2):c.2948C>A (p.Ala983Glu)
|
|
|
NM_030962.4(SBF2):c.2975TAG[1] (p.Val993del)
|
|
|
NM_030962.4(SBF2):c.3001A>T (p.Met1001Leu)
|
rs781742897
|
|
NM_030962.4(SBF2):c.3010C>T (p.Arg1004Cys)
|
rs1008990516
|
|
NM_030962.4(SBF2):c.3016C>T (p.Pro1006Ser)
|
rs886048781
|
|
NM_030962.4(SBF2):c.305G>T (p.Gly102Val)
|
|
|
NM_030962.4(SBF2):c.3084A>C (p.Lys1028Asn)
|
|
|
NM_030962.4(SBF2):c.3087G>T (p.Gln1029His)
|
|
|
NM_030962.4(SBF2):c.3098A>G (p.Asn1033Ser)
|
rs1856485648
|
|
NM_030962.4(SBF2):c.3104C>A (p.Ser1035Tyr)
|
rs1856484914
|
|
NM_030962.4(SBF2):c.3110+4A>G
|
|
|
NM_030962.4(SBF2):c.3110G>C (p.Arg1037Pro)
|
rs748477865
|
|
NM_030962.4(SBF2):c.3111-3T>C
|
rs2133961719
|
|
NM_030962.4(SBF2):c.3111-7C>G
|
rs1856254310
|
|
NM_030962.4(SBF2):c.3115T>G (p.Phe1039Val)
|
|
|
NM_030962.4(SBF2):c.3125C>T (p.Thr1042Ile)
|
rs1856252791
|
|
NM_030962.4(SBF2):c.313A>G (p.Lys105Glu)
|
rs139730490
|
|
NM_030962.4(SBF2):c.3142A>G (p.Lys1048Glu)
|
|
|
NM_030962.4(SBF2):c.3167G>C (p.Gly1056Ala)
|
|
|
NM_030962.4(SBF2):c.3194C>T (p.Thr1065Ile)
|
rs2133961495
|
|
NM_030962.4(SBF2):c.3198G>T (p.Gly1066=)
|
rs150130142
|
|
NM_030962.4(SBF2):c.3200C>A (p.Thr1067Lys)
|
|
|
NM_030962.4(SBF2):c.3214A>G (p.Arg1072Gly)
|
|
|
NM_030962.4(SBF2):c.3226C>G (p.Pro1076Ala)
|
|
|
NM_030962.4(SBF2):c.3229G>A (p.Gly1077Arg)
|
rs761048786
|
|
NM_030962.4(SBF2):c.3250G>A (p.Val1084Ile)
|
rs1331366931
|
|
NM_030962.4(SBF2):c.3257-69_3282del
|
rs1855973417
|
|
NM_030962.4(SBF2):c.3257-8C>A
|
rs1855976609
|
|
NM_030962.4(SBF2):c.3278C>G (p.Pro1093Arg)
|
rs762973514
|
|
NM_030962.4(SBF2):c.3298G>A (p.Ala1100Thr)
|
rs1855971560
|
|
NM_030962.4(SBF2):c.3322C>G (p.Gln1108Glu)
|
rs1855969532
|
|
NM_030962.4(SBF2):c.3329T>C (p.Val1110Ala)
|
|
|
NM_030962.4(SBF2):c.332A>C (p.Gln111Pro)
|
rs1949239187
|
|
NM_030962.4(SBF2):c.3340T>G (p.Cys1114Gly)
|
|
|
NM_030962.4(SBF2):c.3376A>G (p.Ile1126Val)
|
rs747669195
|
|
NM_030962.4(SBF2):c.3379A>T (p.Ser1127Cys)
|
rs1167884517
|
|
NM_030962.4(SBF2):c.3382G>A (p.Gly1128Ser)
|
rs1474699941
|
|
NM_030962.4(SBF2):c.3392C>A (p.Ser1131Tyr)
|
|
|
NM_030962.4(SBF2):c.3395G>A (p.Arg1132His)
|
|
|
NM_030962.4(SBF2):c.3428C>T (p.Ser1143Phe)
|
rs2133952172
|
|
NM_030962.4(SBF2):c.344T>G (p.Val115Gly)
|
|
|
NM_030962.4(SBF2):c.3457T>C (p.Tyr1153His)
|
rs1060499998
|
|
NM_030962.4(SBF2):c.3469T>A (p.Leu1157Ile)
|
rs2133937354
|
|
NM_030962.4(SBF2):c.3475G>A (p.Val1159Ile)
|
|
|
NM_030962.4(SBF2):c.3479C>T (p.Pro1160Leu)
|
rs1233967178
|
|
NM_030962.4(SBF2):c.348T>G (p.Phe116Leu)
|
rs1949238558
|
|
NM_030962.4(SBF2):c.3505C>A (p.Pro1169Thr)
|
rs535680998
|
|
NM_030962.4(SBF2):c.353C>T (p.Pro118Leu)
|
rs1949238001
|
|
NM_030962.4(SBF2):c.3547G>T (p.Val1183Leu)
|
rs2133937176
|
|
NM_030962.4(SBF2):c.3550T>C (p.Cys1184Arg)
|
rs762738168
|
|
NM_030962.4(SBF2):c.3587G>A (p.Arg1196Gln)
|
rs376309876
|
|
NM_030962.4(SBF2):c.3602A>G (p.His1201Arg)
|
rs869312970
|
|
NM_030962.4(SBF2):c.3611G>T (p.Gly1204Val)
|
rs781282456
|
|
NM_030962.4(SBF2):c.3632C>G (p.Ser1211Cys)
|
rs1356162033
|
|
NM_030962.4(SBF2):c.3644C>G (p.Pro1215Arg)
|
rs1855445153
|
|
NM_030962.4(SBF2):c.364G>A (p.Val122Met)
|
|
|
NM_030962.4(SBF2):c.3652+5G>A
|
rs199502044
|
|
NM_030962.4(SBF2):c.3656C>T (p.Pro1219Leu)
|
|
|
NM_030962.4(SBF2):c.3659C>T (p.Thr1220Ile)
|
rs1439541685
|
|
NM_030962.4(SBF2):c.3673T>A (p.Ser1225Thr)
|
|
|
NM_030962.4(SBF2):c.3674C>A (p.Ser1225Tyr)
|
rs759215256
|
|
NM_030962.4(SBF2):c.3674_3691dup (p.Glu1230_Gln1231insProSerSerSerIleGlu)
|
rs2133931845
|
|
NM_030962.4(SBF2):c.3712T>A (p.Leu1238Ile)
|
rs1564890006
|
|
NM_030962.4(SBF2):c.3722C>A (p.Ala1241Asp)
|
rs779174513
|
|
NM_030962.4(SBF2):c.3734A>G (p.His1245Arg)
|
rs2133931756
|
|
NM_030962.4(SBF2):c.3741A>T (p.Lys1247Asn)
|
rs1855252886
|
|
NM_030962.4(SBF2):c.3745A>G (p.Arg1249Gly)
|
rs1554914278
|
|
NM_030962.4(SBF2):c.3761T>A (p.Leu1254His)
|
|
|
NM_030962.4(SBF2):c.3761T>C (p.Leu1254Pro)
|
rs762211340
|
|
NM_030962.4(SBF2):c.3784C>G (p.Leu1262Val)
|
rs1270676073
|
|
NM_030962.4(SBF2):c.3812G>T (p.Arg1271Leu)
|
rs201249004
|
|
NM_030962.4(SBF2):c.3823C>G (p.Arg1275Gly)
|
rs956737183
|
|
NM_030962.4(SBF2):c.3857T>C (p.Val1286Ala)
|
rs869312963
|
|
NM_030962.4(SBF2):c.3866G>T (p.Arg1289Leu)
|
rs757836523
|
|
NM_030962.4(SBF2):c.3871G>C (p.Ala1291Pro)
|
rs1488414945
|
|
NM_030962.4(SBF2):c.389C>T (p.Pro130Leu)
|
rs1201147678
|
|
NM_030962.4(SBF2):c.38A>C (p.Tyr13Ser)
|
rs1591380986
|
|
NM_030962.4(SBF2):c.38A>T (p.Tyr13Phe)
|
|
|
NM_030962.4(SBF2):c.3902A>G (p.Asn1301Ser)
|
rs1429630644
|
|
NM_030962.4(SBF2):c.3925C>T (p.Leu1309Phe)
|
rs1564879807
|
|
NM_030962.4(SBF2):c.3938A>G (p.Gln1313Arg)
|
rs1554909178
|
|
NM_030962.4(SBF2):c.394A>G (p.Ile132Val)
|
|
|
NM_030962.4(SBF2):c.3956T>G (p.Phe1319Cys)
|
rs2133911307
|
|
NM_030962.4(SBF2):c.3979-4G>T
|
rs375742620
|
|
NM_030962.4(SBF2):c.402+11_402+21del
|
|
|
NM_030962.4(SBF2):c.4052C>A (p.Ala1351Asp)
|
rs2133904474
|
|
NM_030962.4(SBF2):c.4067T>C (p.Leu1356Pro)
|
rs1854252785
|
|
NM_030962.4(SBF2):c.4090A>G (p.Thr1364Ala)
|
|
|
NM_030962.4(SBF2):c.4094T>G (p.Ile1365Ser)
|
|
|
NM_030962.4(SBF2):c.4111G>A (p.Val1371Met)
|
rs149501654
|
|
NM_030962.4(SBF2):c.4121T>G (p.Leu1374Arg)
|
rs1854248122
|
|
NM_030962.4(SBF2):c.412G>C (p.Gly138Arg)
|
|
|
NM_030962.4(SBF2):c.4133G>A (p.Gly1378Glu)
|
rs1854247198
|
|
NM_030962.4(SBF2):c.4146G>C (p.Trp1382Cys)
|
rs1854246275
|
|
NM_030962.4(SBF2):c.4156-15_4156-5del
|
rs745522461
|
|
NM_030962.4(SBF2):c.415T>G (p.Leu139Val)
|
rs146361949
|
|
NM_030962.4(SBF2):c.4171C>G (p.Gln1391Glu)
|
|
|
NM_030962.4(SBF2):c.4173G>T (p.Gln1391His)
|
|
|
NM_030962.4(SBF2):c.4183G>T (p.Val1395Phe)
|
|
|
NM_030962.4(SBF2):c.4203G>C (p.Glu1401Asp)
|
rs750353766
|
|
NM_030962.4(SBF2):c.4214C>T (p.Ser1405Leu)
|
|
|
NM_030962.4(SBF2):c.4221G>C (p.Leu1407Phe)
|
|
|
NM_030962.4(SBF2):c.4236A>G (p.Glu1412=)
|
|
|
NM_030962.4(SBF2):c.4279C>T (p.Leu1427Phe)
|
rs760329902
|
|
NM_030962.4(SBF2):c.4282A>G (p.Ser1428Gly)
|
rs2133896771
|
|
NM_030962.4(SBF2):c.4283G>T (p.Ser1428Ile)
|
rs1853958713
|
|
NM_030962.4(SBF2):c.4301C>T (p.Thr1434Ile)
|
|
|
NM_030962.4(SBF2):c.4351C>G (p.His1451Asp)
|
rs2133896649
|
|
NM_030962.4(SBF2):c.4377G>C (p.Leu1459Phe)
|
|
|
NM_030962.4(SBF2):c.43C>T (p.His15Tyr)
|
rs1324706227
|
|
NM_030962.4(SBF2):c.4408C>G (p.Pro1470Ala)
|
|
|
NM_030962.4(SBF2):c.4420C>G (p.Gln1474Glu)
|
rs1590130857
|
|
NM_030962.4(SBF2):c.4425C>G (p.Phe1475Leu)
|
|
|
NM_030962.4(SBF2):c.4444G>A (p.Val1482Ile)
|
|
|
NM_030962.4(SBF2):c.4465G>A (p.Glu1489Lys)
|
rs864622502
|
|
NM_030962.4(SBF2):c.4478A>G (p.Asn1493Ser)
|
|
|
NM_030962.4(SBF2):c.4510T>G (p.Tyr1504Asp)
|
rs1853093188
|
|
NM_030962.4(SBF2):c.4516T>G (p.Ser1506Ala)
|
|
|
NM_030962.4(SBF2):c.4522C>G (p.Arg1508Gly)
|
rs141108330
|
|
NM_030962.4(SBF2):c.4564G>C (p.Glu1522Gln)
|
rs1853090043
|
|
NM_030962.4(SBF2):c.456G>A (p.Leu152=)
|
rs1949189908
|
|
NM_030962.4(SBF2):c.4592G>A (p.Gly1531Glu)
|
|
|
NM_030962.4(SBF2):c.45C>G (p.His15Gln)
|
rs1964352895
|
|
NM_030962.4(SBF2):c.4603G>A (p.Ala1535Thr)
|
rs546392558
|
|
NM_030962.4(SBF2):c.4664T>G (p.Phe1555Cys)
|
rs1852677610
|
|
NM_030962.4(SBF2):c.4675T>G (p.Leu1559Val)
|
|
|
NM_030962.4(SBF2):c.4681T>G (p.Ser1561Ala)
|
rs1453584782
|
|
NM_030962.4(SBF2):c.4698+6G>A
|
rs1852674371
|
|
NM_030962.4(SBF2):c.4709C>G (p.Pro1570Arg)
|
|
|
NM_030962.4(SBF2):c.4712A>T (p.Asn1571Ile)
|
rs371960255
|
|
NM_030962.4(SBF2):c.4735A>C (p.Lys1579Gln)
|
rs2133858789
|
|
NM_030962.4(SBF2):c.4785C>G (p.Asp1595Glu)
|
|
|
NM_030962.4(SBF2):c.4799C>G (p.Thr1600Ser)
|
rs183468503
|
|
NM_030962.4(SBF2):c.479G>T (p.Cys160Phe)
|
rs1214507322
|
|
NM_030962.4(SBF2):c.4817C>G (p.Ser1606Cys)
|
|
|
NM_030962.4(SBF2):c.4840G>A (p.Glu1614Lys)
|
rs1852578314
|
|
NM_030962.4(SBF2):c.4890T>A (p.Asp1630Glu)
|
rs963997810
|
|
NM_030962.4(SBF2):c.4913C>G (p.Ala1638Gly)
|
rs758932167
|
|
NM_030962.4(SBF2):c.4919C>A (p.Thr1640Asn)
|
rs1284170057
|
|
NM_030962.4(SBF2):c.494C>T (p.Pro165Leu)
|
rs1949187604
|
|
NM_030962.4(SBF2):c.4967C>T (p.Ala1656Val)
|
rs139634638
|
|
NM_030962.4(SBF2):c.497C>T (p.Ala166Val)
|
|
|
NM_030962.4(SBF2):c.5010C>A (p.Asp1670Glu)
|
rs142672124
|
|
NM_030962.4(SBF2):c.5016A>G (p.Lys1672=)
|
rs1564852595
|
|
NM_030962.4(SBF2):c.5017GAA[1] (p.Glu1674del)
|
rs572571832
|
|
NM_030962.4(SBF2):c.5024C>G (p.Pro1675Arg)
|
rs1852460091
|
|
NM_030962.4(SBF2):c.5030C>T (p.Thr1677Ile)
|
rs760027294
|
|
NM_030962.4(SBF2):c.5038-11_5038-8del
|
rs1189608485
|
|
NM_030962.4(SBF2):c.5067A>T (p.Gly1689=)
|
|
|
NM_030962.4(SBF2):c.506G>A (p.Gly169Glu)
|
rs1949186665
|
|
NM_030962.4(SBF2):c.5077A>T (p.Thr1693Ser)
|
rs935208245
|
|
NM_030962.4(SBF2):c.5102G>A (p.Arg1701Lys)
|
rs914679014
|
|
NM_030962.4(SBF2):c.513+4A>G
|
rs1554990552
|
|
NM_030962.4(SBF2):c.5135G>T (p.Gly1712Val)
|
rs757214892
|
|
NM_030962.4(SBF2):c.5149T>C (p.Ser1717Pro)
|
|
|
NM_030962.4(SBF2):c.5167A>G (p.Asn1723Asp)
|
|
|
NM_030962.4(SBF2):c.5192C>T (p.Thr1731Met)
|
|
|
NM_030962.4(SBF2):c.5198A>G (p.Tyr1733Cys)
|
rs1334739235
|
|
NM_030962.4(SBF2):c.5200A>C (p.Ser1734Arg)
|
rs1411871638
|
|
NM_030962.4(SBF2):c.5204A>T (p.Gln1735Leu)
|
rs2133849923
|
|
NM_030962.4(SBF2):c.5205G>C (p.Gln1735His)
|
rs878855131
|
|
NM_030962.4(SBF2):c.5209A>T (p.Thr1737Ser)
|
rs1564850356
|
|
NM_030962.4(SBF2):c.5213C>G (p.Ser1738Cys)
|
rs2133849900
|
|
NM_030962.4(SBF2):c.5249T>C (p.Leu1750Pro)
|
rs1852233208
|
|
NM_030962.4(SBF2):c.5258G>A (p.Arg1753Lys)
|
rs1852232500
|
|
NM_030962.4(SBF2):c.527T>C (p.Leu176Ser)
|
rs1554990128
|
|
NM_030962.4(SBF2):c.5285C>T (p.Pro1762Leu)
|
rs1051248230
|
|
NM_030962.4(SBF2):c.5291G>C (p.Trp1764Ser)
|
|
|
NM_030962.4(SBF2):c.5354G>A (p.Cys1785Tyr)
|
|
|
NM_030962.4(SBF2):c.536G>A (p.Gly179Glu)
|
|
|
NM_030962.4(SBF2):c.5375C>G (p.Ala1792Gly)
|
rs1554897834
|
|
NM_030962.4(SBF2):c.5375C>T (p.Ala1792Val)
|
rs1554897834
|
|
NM_030962.4(SBF2):c.5398G>A (p.Ala1800Thr)
|
rs1852008750
|
|
NM_030962.4(SBF2):c.5399C>A (p.Ala1800Asp)
|
|
|
NM_030962.4(SBF2):c.5435A>G (p.Asp1812Gly)
|
rs1852006389
|
|
NM_030962.4(SBF2):c.5437A>G (p.Lys1813Glu)
|
rs1590068012
|
|
NM_030962.4(SBF2):c.5438A>C (p.Lys1813Thr)
|
rs1852006110
|
|
NM_030962.4(SBF2):c.5440G>T (p.Ala1814Ser)
|
rs1852005955
|
|
NM_030962.4(SBF2):c.5451+3_5451+6dup
|
rs1428808794
|
|
NM_030962.4(SBF2):c.5470G>A (p.Val1824Met)
|
rs1851934295
|
|
NM_030962.4(SBF2):c.5498A>G (p.Gln1833Arg)
|
rs763965438
|
|
NM_030962.4(SBF2):c.5522A>G (p.Lys1841Arg)
|
|
|
NM_030962.4(SBF2):c.5530_5531del (p.Ser1844fs)
|
rs1293444505
|
|
NM_030962.4(SBF2):c.555G>C (p.Gln185His)
|
rs1254270693
|
|
NM_030962.4(SBF2):c.565C>T (p.His189Tyr)
|
rs1280211892
|
|
NM_030962.4(SBF2):c.568G>A (p.Asp190Asn)
|
rs201738577
|
|
NM_030962.4(SBF2):c.574C>G (p.Leu192Val)
|
rs1949129969
|
|
NM_030962.4(SBF2):c.595G>A (p.Val199Met)
|
|
|
NM_030962.4(SBF2):c.611A>G (p.Gln204Arg)
|
rs2134626742
|
|
NM_030962.4(SBF2):c.614A>C (p.Gln205Pro)
|
rs1949128392
|
|
NM_030962.4(SBF2):c.619+6T>A
|
|
|
NM_030962.4(SBF2):c.61G>A (p.Gly21Arg)
|
rs774844294
|
|
NM_030962.4(SBF2):c.620-10dup
|
rs1948023557
|
|
NM_030962.4(SBF2):c.626A>C (p.Gln209Pro)
|
|
|
NM_030962.4(SBF2):c.673C>T (p.Leu225Phe)
|
|
|
NM_030962.4(SBF2):c.674T>C (p.Leu225Pro)
|
|
|
NM_030962.4(SBF2):c.700C>T (p.Leu234Phe)
|
rs749378136
|
|
NM_030962.4(SBF2):c.716G>A (p.Arg239Lys)
|
|
|
NM_030962.4(SBF2):c.727T>A (p.Ser243Thr)
|
|
|
NM_030962.4(SBF2):c.728C>A (p.Ser243Tyr)
|
rs2134513972
|
|
NM_030962.4(SBF2):c.735G>A (p.Met245Ile)
|
rs1554981022
|
|
NM_030962.4(SBF2):c.745A>G (p.Lys249Glu)
|
|
|
NM_030962.4(SBF2):c.747A>G (p.Lys249=)
|
rs1554981019
|
|
NM_030962.4(SBF2):c.766C>A (p.Pro256Thr)
|
rs879253987
|
|
NM_030962.4(SBF2):c.767C>G (p.Pro256Arg)
|
rs1947932193
|
|
NM_030962.4(SBF2):c.76A>G (p.Lys26Glu)
|
|
|
NM_030962.4(SBF2):c.772C>G (p.Leu258Val)
|
|
|
NM_030962.4(SBF2):c.776C>T (p.Pro259Leu)
|
|
|
NM_030962.4(SBF2):c.782A>G (p.Gln261Arg)
|
|
|
NM_030962.4(SBF2):c.791A>G (p.Glu264Gly)
|
rs928271143
|
|
NM_030962.4(SBF2):c.793G>T (p.Val265Phe)
|
rs1655963955
|
|
NM_030962.4(SBF2):c.796C>G (p.Leu266Val)
|
rs1565116051
|
|
NM_030962.4(SBF2):c.820A>G (p.Ile274Val)
|
|
|
NM_030962.4(SBF2):c.861+5G>C
|
rs879253963
|
|
NM_030962.4(SBF2):c.873_875del (p.Ile292del)
|
rs2134496803
|
|
NM_030962.4(SBF2):c.883T>A (p.Leu295Met)
|
|
|
NM_030962.4(SBF2):c.887A>T (p.Asp296Val)
|
|
|
NM_030962.4(SBF2):c.910G>A (p.Glu304Lys)
|
rs781039677
|
|
NM_030962.4(SBF2):c.910G>C (p.Glu304Gln)
|
rs781039677
|
|
NM_030962.4(SBF2):c.931C>T (p.Leu311Phe)
|
|
|
NM_030962.4(SBF2):c.935C>T (p.Pro312Leu)
|
rs1947799030
|
|
NM_030962.4(SBF2):c.986C>T (p.Pro329Leu)
|
|
|
NM_030962.4(SBF2):c.989A>G (p.Asp330Gly)
|
|
|
NM_030973.4(MED25):c.1025C>T (p.Ser342Phe)
|
rs1600325791
|
|
NM_030973.4(MED25):c.102del (p.Leu35fs)
|
rs2073953986
|
|
NM_030973.4(MED25):c.1048G>A (p.Val350Met)
|
|
|
NM_030973.4(MED25):c.1060T>C (p.Ser354Pro)
|
rs2123880302
|
|
NM_030973.4(MED25):c.1068G>A (p.Leu356=)
|
rs2074050942
|
|
NM_030973.4(MED25):c.1078G>A (p.Ala360Thr)
|
|
|
NM_030973.4(MED25):c.1079C>G (p.Ala360Gly)
|
rs2123880339
|
|
NM_030973.4(MED25):c.107G>A (p.Arg36His)
|
rs1555800954
|
|
NM_030973.4(MED25):c.107G>T (p.Arg36Leu)
|
rs1555800954
|
|
NM_030973.4(MED25):c.1097C>G (p.Ser366Cys)
|
|
|
NM_030973.4(MED25):c.1102-13T>G
|
|
|
NM_030973.4(MED25):c.1128G>A (p.Val376=)
|
|
|
NM_030973.4(MED25):c.112C>T (p.His38Tyr)
|
|
|
NM_030973.4(MED25):c.1131C>T (p.Ser377=)
|
|
|
NM_030973.4(MED25):c.1133G>A (p.Gly378Asp)
|
rs1600326536
|
|
NM_030973.4(MED25):c.1148_1165del (p.Gln383_Ala388del)
|
rs765219800
|
|
NM_030973.4(MED25):c.1148_1165dup (p.Gln383_Ala388dup)
|
rs765219800
|
|
NM_030973.4(MED25):c.1150C>G (p.Leu384Val)
|
rs1248219304
|
|
NM_030973.4(MED25):c.1160C>G (p.Pro387Arg)
|
rs1433808506
|
|
NM_030973.4(MED25):c.1179G>C (p.Gln393His)
|
rs951202638
|
|
NM_030973.4(MED25):c.1201G>A (p.Ala401Thr)
|
rs1219247533
|
|
NM_030973.4(MED25):c.1202C>T (p.Ala401Val)
|
rs868663771
|
|
NM_030973.4(MED25):c.1230+5G>C
|
rs2074057180
|
|
NM_030973.4(MED25):c.1230+6G>A
|
rs2074057196
|
|
NM_030973.4(MED25):c.1231-3C>T
|
|
|
NM_030973.4(MED25):c.1243G>A (p.Ala415Thr)
|
rs771844561
|
|
NM_030973.4(MED25):c.1244C>T (p.Ala415Val)
|
rs775141134
|
|
NM_030973.4(MED25):c.124C>T (p.Pro42Ser)
|
rs199588409
|
|
NM_030973.4(MED25):c.1250T>C (p.Val417Ala)
|
rs2123882109
|
|
NM_030973.4(MED25):c.1288C>G (p.Gln430Glu)
|
rs2074060785
|
|
NM_030973.4(MED25):c.1296C>T (p.Tyr432=)
|
|
|
NM_030973.4(MED25):c.1304A>G (p.His435Arg)
|
|
|
NM_030973.4(MED25):c.1316+1G>A
|
|
|
NM_030973.4(MED25):c.1316+8A>G
|
|
|
NM_030973.4(MED25):c.1350G>A (p.Met450Ile)
|
rs1568623987
|
|
NM_030973.4(MED25):c.1363C>A (p.Gln455Lys)
|
|
|
NM_030973.4(MED25):c.1374G>A (p.Leu458=)
|
rs2074062447
|
|
NM_030973.4(MED25):c.1391del (p.Leu464fs)
|
|
|
NM_030973.4(MED25):c.13_36del (p.Glu6_Ser13del)
|
rs2073952891
|
|
NM_030973.4(MED25):c.140_144del (p.Phe47fs)
|
rs2123860743
|
|
NM_030973.4(MED25):c.1410G>A (p.Met470Ile)
|
|
|
NM_030973.4(MED25):c.1430A>G (p.Asn477Ser)
|
rs2074064545
|
|
NM_030973.4(MED25):c.1438del (p.Leu480fs)
|
rs2123882986
|
|
NM_030973.4(MED25):c.145G>C (p.Gly49Arg)
|
|
|
NM_030973.4(MED25):c.1483-5C>G
|
|
|
NM_030973.4(MED25):c.1501C>T (p.Pro501Ser)
|
rs2074084894
|
|
NM_030973.4(MED25):c.1504del (p.His502fs)
|
rs2123886765
|
|
NM_030973.4(MED25):c.1518_1519del (p.Cys506_Glu507delinsTer)
|
rs775019484
|
|
NM_030973.4(MED25):c.1526G>A (p.Arg509His)
|
rs1156431468
|
|
NM_030973.4(MED25):c.1559A>T (p.Lys520Met)
|
rs2074085416
|
|
NM_030973.4(MED25):c.1566_1569del (p.Phe522fs)
|
rs2074085486
|
|
NM_030973.4(MED25):c.1567A>T (p.Met523Leu)
|
rs1568625142
|
|
NM_030973.4(MED25):c.1590_1603del (p.Ser531fs)
|
rs1239980123
|
|
NM_030973.4(MED25):c.1594G>A (p.Gly532Ser)
|
rs964471885
|
|
NM_030973.4(MED25):c.1615C>G (p.Gln539Glu)
|
|
|
NM_030973.4(MED25):c.1628_1637del (p.Asn543fs)
|
rs770792425
|
|
NM_030973.4(MED25):c.1643A>C (p.Gln548Pro)
|
rs2074086161
|
|
NM_030973.4(MED25):c.1643A>G (p.Gln548Arg)
|
rs2074086161
|
|
NM_030973.4(MED25):c.1655_1663del (p.Leu552_Gln554del)
|
rs2123887022
|
|
NM_030973.4(MED25):c.1677G>A (p.Met559Ile)
|
rs369006637
|
|
NM_030973.4(MED25):c.1677G>T (p.Met559Ile)
|
rs369006637
|
|
NM_030973.4(MED25):c.1679G>C (p.Gly560Ala)
|
|
|
NM_030973.4(MED25):c.1680_1682del (p.Gly561del)
|
|
|
NM_030973.4(MED25):c.1682G>T (p.Gly561Val)
|
rs1474701596
|
|
NM_030973.4(MED25):c.1693C>T (p.Pro565Ser)
|
|
|
NM_030973.4(MED25):c.1696_1697del (p.Pro566fs)
|
rs2074089681
|
|
NM_030973.4(MED25):c.1703T>C (p.Leu568Pro)
|
rs2123887728
|
|
NM_030973.4(MED25):c.170T>C (p.Phe57Ser)
|
rs2073956256
|
|
NM_030973.4(MED25):c.170T>G (p.Phe57Cys)
|
|
|
NM_030973.4(MED25):c.1727C>T (p.Ala576Val)
|
rs193291405
|
|
NM_030973.4(MED25):c.1730G>A (p.Arg577Lys)
|
|
|
NM_030973.4(MED25):c.1753C>T (p.Leu585Phe)
|
|
|
NM_030973.4(MED25):c.1763C>T (p.Pro588Leu)
|
|
|
NM_030973.4(MED25):c.1767_1768delinsAT (p.Pro590Ser)
|
|
|
NM_030973.4(MED25):c.1771C>G (p.Gln591Glu)
|
rs1600331179
|
|
NM_030973.4(MED25):c.1775C>T (p.Pro592Leu)
|
|
|
NM_030973.4(MED25):c.1795_1803del (p.Ser599_Ala601del)
|
rs764613506
|
|
NM_030973.4(MED25):c.1795_1803dup (p.Ser599_Ala601dup)
|
rs764613506
|
|
NM_030973.4(MED25):c.1799G>A (p.Gly600Glu)
|
rs1188355950
|
|
NM_030973.4(MED25):c.1801del (p.Ala601fs)
|
|
|
NM_030973.4(MED25):c.1805C>T (p.Thr602Met)
|
|
|
NM_030973.4(MED25):c.1812GCCCCA[3] (p.605PQ[3])
|
rs2074092563
|
|
NM_030973.4(MED25):c.1831G>A (p.Ala611Thr)
|
rs2074092949
|
|
NM_030973.4(MED25):c.1852C>T (p.Pro618Ser)
|
rs777988894
|
|
NM_030973.4(MED25):c.1853C>T (p.Pro618Leu)
|
rs1600331387
|
|
NM_030973.4(MED25):c.1855C>A (p.Gln619Lys)
|
rs769034498
|
|
NM_030973.4(MED25):c.1885C>T (p.Pro629Ser)
|
rs1368000406
|
|
NM_030973.4(MED25):c.1888C>G (p.Pro630Ala)
|
rs900142190
|
|
NM_030973.4(MED25):c.1889C>T (p.Pro630Leu)
|
rs775342932
|
|
NM_030973.4(MED25):c.189dup (p.Thr64fs)
|
|
|
NM_030973.4(MED25):c.1910C>T (p.Pro637Leu)
|
rs764747321
|
|
NM_030973.4(MED25):c.1912C>T (p.Gln638Ter)
|
|
|
NM_030973.4(MED25):c.1915A>G (p.Asn639Asp)
|
rs776959726
|
|
NM_030973.4(MED25):c.1919del (p.Pro640fs)
|
rs1223073957
|
|
NM_030973.4(MED25):c.1951C>T (p.Leu651Phe)
|
rs2123888587
|
|
NM_030973.4(MED25):c.1952T>G (p.Leu651Arg)
|
rs878855132
|
|
NM_030973.4(MED25):c.1955A>G (p.Asn652Ser)
|
rs1051416581
|
|
NM_030973.4(MED25):c.1967C>T (p.Pro656Leu)
|
|
|
NM_030973.4(MED25):c.1972A>C (p.Thr658Pro)
|
rs1030696258
|
|
NM_030973.4(MED25):c.1976G>T (p.Gly659Val)
|
|
|
NM_030973.4(MED25):c.1981C>G (p.Pro661Ala)
|
rs748129176
|
|
NM_030973.4(MED25):c.2026C>A (p.Pro676Thr)
|
rs1263091655
|
|
NM_030973.4(MED25):c.2028_2030del (p.Ala677del)
|
rs1600331974
|
|
NM_030973.4(MED25):c.2060G>A (p.Gly687Glu)
|
|
|
NM_030973.4(MED25):c.2065C>T (p.Pro689Ser)
|
rs1352294152
|
|
NM_030973.4(MED25):c.2068_2069del (p.Gln690fs)
|
rs2074097900
|
|
NM_030973.4(MED25):c.2070G>C (p.Gln690His)
|
|
|
NM_030973.4(MED25):c.2095C>G (p.Pro699Ala)
|
rs770600111
|
|
NM_030973.4(MED25):c.20G>T (p.Gly7Val)
|
rs2123860220
|
|
NM_030973.4(MED25):c.2132G>A (p.Arg711Gln)
|
|
|
NM_030973.4(MED25):c.2137C>T (p.Pro713Ser)
|
|
|
NM_030973.4(MED25):c.2144dup (p.Gly716fs)
|
rs1568625990
|
|
NM_030973.4(MED25):c.2147-3C>T
|
rs1555803003
|
|
NM_030973.4(MED25):c.2147G>A (p.Gly716Asp)
|
rs2074102680
|
|
NM_030973.4(MED25):c.2185C>T (p.Pro729Ser)
|
rs536619167
|
|
NM_030973.4(MED25):c.2191C>T (p.Pro731Ser)
|
rs1236215092
|
|
NM_030973.4(MED25):c.2200C>T (p.Gln734Ter)
|
rs1600332988
|
|
NM_030973.4(MED25):c.2239A>C (p.Ile747Leu)
|
rs2074103858
|
|
NM_030973.4(MED25):c.229G>C (p.Ala77Pro)
|
rs1290551836
|
|
NM_030973.4(MED25):c.248A>G (p.Gln83Arg)
|
rs2073964192
|
|
NM_030973.4(MED25):c.259C>G (p.Pro87Ala)
|
|
|
NM_030973.4(MED25):c.282dup (p.Val95fs)
|
rs1568618345
|
|
NM_030973.4(MED25):c.283G>A (p.Val95Ile)
|
rs1475262890
|
|
NM_030973.4(MED25):c.287C>G (p.Thr96Ser)
|
rs2123862294
|
|
NM_030973.4(MED25):c.28C>T (p.Arg10Cys)
|
|
|
NM_030973.4(MED25):c.311T>C (p.Met104Thr)
|
|
|
NM_030973.4(MED25):c.316G>C (p.Gly106Arg)
|
|
|
NM_030973.4(MED25):c.320G>C (p.Gly107Ala)
|
rs1448711945
|
|
NM_030973.4(MED25):c.320del (p.Gly107fs)
|
rs776360611
|
|
NM_030973.4(MED25):c.322G>A (p.Gly108Ser)
|
rs2074030164
|
|
NM_030973.4(MED25):c.330C>A (p.Ser110Arg)
|
rs898525772
|
|
NM_030973.4(MED25):c.340A>G (p.Ile114Val)
|
|
|
NM_030973.4(MED25):c.343G>A (p.Ala115Thr)
|
rs1433714797
|
|
NM_030973.4(MED25):c.367C>A (p.Gln123Lys)
|
rs764968113
|
|
NM_030973.4(MED25):c.377A>T (p.Asp126Val)
|
rs751058652
|
|
NM_030973.4(MED25):c.389A>G (p.Lys130Arg)
|
|
|
NM_030973.4(MED25):c.393_394delinsCT (p.Met131_Arg132delinsIleCys)
|
rs1555801968
|
|
NM_030973.4(MED25):c.397G>A (p.Glu133Lys)
|
|
|
NM_030973.4(MED25):c.404+4A>C
|
|
|
NM_030973.4(MED25):c.405T>C (p.Ile135=)
|
rs2123876614
|
|
NM_030973.4(MED25):c.406G>A (p.Gly136Ser)
|
|
|
NM_030973.4(MED25):c.419G>A (p.Arg140Gln)
|
rs748347831
|
|
NM_030973.4(MED25):c.421G>C (p.Val141Leu)
|
rs1398290748
|
|
NM_030973.4(MED25):c.439A>C (p.Asn147His)
|
rs2074034296
|
|
NM_030973.4(MED25):c.440A>C (p.Asn147Thr)
|
rs575908777
|
|
NM_030973.4(MED25):c.440A>G (p.Asn147Ser)
|
|
|
NM_030973.4(MED25):c.449del (p.Pro150fs)
|
rs1600323331
|
|
NM_030973.4(MED25):c.459G>T (p.Leu153Phe)
|
rs1461710400
|
|
NM_030973.4(MED25):c.475A>G (p.Thr159Ala)
|
|
|
NM_030973.4(MED25):c.506T>C (p.Leu169Pro)
|
rs2123876804
|
|
NM_030973.4(MED25):c.518T>C (p.Ile173Thr)
|
rs781753774
|
|
NM_030973.4(MED25):c.520G>A (p.Gly174Arg)
|
|
|
NM_030973.4(MED25):c.525G>A (p.Glu175=)
|
rs2074035059
|
|
NM_030973.4(MED25):c.526-3C>T
|
|
|
NM_030973.4(MED25):c.527G>A (p.Arg176Gln)
|
rs1364981975
|
|
NM_030973.4(MED25):c.544A>G (p.Ile182Val)
|
rs1568622523
|
|
NM_030973.4(MED25):c.547G>A (p.Val183Met)
|
rs1555802134
|
|
NM_030973.4(MED25):c.575G>A (p.Arg192Gln)
|
|
|
NM_030973.4(MED25):c.58T>A (p.Phe20Ile)
|
|
|
NM_030973.4(MED25):c.601C>A (p.Pro201Thr)
|
|
|
NM_030973.4(MED25):c.601C>G (p.Pro201Ala)
|
rs149611039
|
|
NM_030973.4(MED25):c.602del (p.Pro201fs)
|
rs748546983
|
|
NM_030973.4(MED25):c.602dup (p.Ala202fs)
|
rs748546983
|
|
NM_030973.4(MED25):c.61G>A (p.Val21Met)
|
rs2073953656
|
|
NM_030973.4(MED25):c.650C>T (p.Pro217Leu)
|
|
|
NM_030973.4(MED25):c.658A>T (p.Met220Leu)
|
rs905166588
|
|
NM_030973.4(MED25):c.693_695del (p.Gly233del)
|
|
|
NM_030973.4(MED25):c.703G>A (p.Ala235Thr)
|
rs2074043556
|
|
NM_030973.4(MED25):c.740del (p.Leu247fs)
|
rs2074044055
|
|
NM_030973.4(MED25):c.743C>T (p.Pro248Leu)
|
|
|
NM_030973.4(MED25):c.755C>T (p.Pro252Leu)
|
rs2074044376
|
|
NM_030973.4(MED25):c.761G>A (p.Gly254Asp)
|
rs2074044441
|
|
NM_030973.4(MED25):c.769C>T (p.Leu257Phe)
|
|
|
NM_030973.4(MED25):c.773C>T (p.Ser258Leu)
|
rs950408993
|
|
NM_030973.4(MED25):c.784C>T (p.Gln262Ter)
|
rs2074044739
|
|
NM_030973.4(MED25):c.787C>A (p.Gln263Lys)
|
|
|
NM_030973.4(MED25):c.787C>T (p.Gln263Ter)
|
rs765215168
|
|
NM_030973.4(MED25):c.794T>C (p.Leu265Pro)
|
|
|
NM_030973.4(MED25):c.801dup (p.Val268fs)
|
rs775072432
|
|
NM_030973.4(MED25):c.809C>A (p.Pro270Gln)
|
|
|
NM_030973.4(MED25):c.809C>T (p.Pro270Leu)
|
rs756463606
|
|
NM_030973.4(MED25):c.836G>A (p.Ser279Asn)
|
|
|
NM_030973.4(MED25):c.853G>A (p.Ala285Thr)
|
rs1318288681
|
|
NM_030973.4(MED25):c.854C>A (p.Ala285Glu)
|
rs191366132
|
|
NM_030973.4(MED25):c.906C>A (p.Arg302=)
|
rs1182901692
|
|
NM_030973.4(MED25):c.906C>G (p.Arg302=)
|
rs1182901692
|
|
NM_030973.4(MED25):c.906C>T (p.Arg302=)
|
rs1182901692
|
|
NM_030973.4(MED25):c.908-3_908-2del
|
rs766739944
|
|
NM_030973.4(MED25):c.918C>G (p.Ile306Met)
|
rs1447845181
|
|
NM_030973.4(MED25):c.924del (p.Leu309fs)
|
rs2074049374
|
|
NM_030973.4(MED25):c.930A>T (p.Gln310His)
|
rs2074049426
|
|
NM_030973.4(MED25):c.947T>G (p.Val316Gly)
|
|
|
NM_030973.4(MED25):c.955C>T (p.Pro319Ser)
|
rs886357105
|
|
NM_030973.4(MED25):c.956C>T (p.Pro319Leu)
|
rs139822988
|
|
NM_030973.4(MED25):c.959T>G (p.Phe320Cys)
|
rs2074049850
|
|
NM_030973.4(MED25):c.962G>C (p.Ser321Thr)
|
rs377259236
|
|
NM_030973.4(MED25):c.965A>G (p.Gln322Arg)
|
|
|
NM_030973.4(MED25):c.973G>C (p.Ala325Pro)
|
|
|
NM_030973.4(MED25):c.98A>G (p.Glu33Gly)
|
|
|
NM_170707.4(LMNA):c.1004_1005inv (p.Arg335Pro)
|
|
|
NM_170707.4(LMNA):c.1016C>T (p.Ala339Val)
|
rs756538414
|
|
NM_170707.4(LMNA):c.1024G>A (p.Glu342Lys)
|
rs1651558432
|
|
NM_170707.4(LMNA):c.1034T>C (p.Met345Thr)
|
|
|
NM_170707.4(LMNA):c.1040A>C (p.Glu347Ala)
|
rs1449688220
|
|
NM_170707.4(LMNA):c.1040A>G (p.Glu347Gly)
|
rs1449688220
|
|
NM_170707.4(LMNA):c.1048G>C (p.Ala350Pro)
|
rs267607610
|
|
NM_170707.4(LMNA):c.1049C>T (p.Ala350Val)
|
|
|
NM_170707.4(LMNA):c.1051A>G (p.Arg351Gly)
|
rs771623461
|
|
NM_170707.4(LMNA):c.1055T>C (p.Met352Thr)
|
|
|
NM_170707.4(LMNA):c.1061A>G (p.Gln354Arg)
|
rs1651565056
|
|
NM_170707.4(LMNA):c.1063C>A (p.Gln355Lys)
|
|
|
NM_170707.4(LMNA):c.1063C>G (p.Gln355Glu)
|
rs267607617
|
|
NM_170707.4(LMNA):c.1069G>C (p.Asp357His)
|
rs267607567
|
|
NM_170707.4(LMNA):c.1069G>T (p.Asp357Tyr)
|
rs267607567
|
|
NM_170707.4(LMNA):c.1071C>A (p.Asp357Glu)
|
rs376875762
|
|
NM_170707.4(LMNA):c.1086_1088del (p.Leu363del)
|
rs2102887987
|
|
NM_170707.4(LMNA):c.1088T>A (p.Leu363Gln)
|
|
|
NM_170707.4(LMNA):c.108G>T (p.Gln36His)
|
rs2102817523
|
|
NM_170707.4(LMNA):c.109G>A (p.Glu37Lys)
|
rs1354642495
|
|
NM_170707.4(LMNA):c.10C>G (p.Pro4Ala)
|
|
|
NM_170707.4(LMNA):c.10C>T (p.Pro4Ser)
|
rs1477323839
|
|
NM_170707.4(LMNA):c.1108G>A (p.Asp370Asn)
|
rs2102888147
|
|
NM_170707.4(LMNA):c.110A>G (p.Glu37Gly)
|
|
|
NM_170707.4(LMNA):c.1111A>G (p.Met371Val)
|
rs1270221130
|
|
NM_170707.4(LMNA):c.1113G>C (p.Met371Ile)
|
|
|
NM_170707.4(LMNA):c.1123G>A (p.Ala375Thr)
|
rs879254162
|
|
NM_170707.4(LMNA):c.1124C>A (p.Ala375Asp)
|
rs886042239
|
|
NM_170707.4(LMNA):c.1136T>C (p.Leu379Pro)
|
|
|
NM_170707.4(LMNA):c.1141G>A (p.Glu381Lys)
|
rs2102888548
|
|
NM_170707.4(LMNA):c.1157+3G>A
|
|
|
NM_170707.4(LMNA):c.1158G>A (p.Arg386=)
|
rs879253933
|
|
NM_170707.4(LMNA):c.1158G>C (p.Arg386Ser)
|
rs879253933
|
|
NM_170707.4(LMNA):c.1158G>T (p.Arg386Ser)
|
rs879253933
|
|
NM_170707.4(LMNA):c.1160T>A (p.Leu387Gln)
|
|
|
NM_170707.4(LMNA):c.1161_1178dup (p.Arg388_Pro393dup)
|
rs1553265793
|
|
NM_170707.4(LMNA):c.1162C>T (p.Arg388Cys)
|
rs58133342
|
|
NM_170707.4(LMNA):c.1169C>T (p.Ser390Phe)
|
|
|
NM_170707.4(LMNA):c.1181C>T (p.Thr394Ile)
|
rs757887400
|
|
NM_170707.4(LMNA):c.118G>A (p.Asp40Asn)
|
|
|
NM_170707.4(LMNA):c.1193G>C (p.Ser398Thr)
|
|
|
NM_170707.4(LMNA):c.1196G>C (p.Arg399Pro)
|
|
|
NM_170707.4(LMNA):c.1198G>A (p.Gly400Ser)
|
|
|
NM_170707.4(LMNA):c.1199G>A (p.Gly400Asp)
|
rs1651608363
|
|
NM_170707.4(LMNA):c.1220C>A (p.Ser407Tyr)
|
|
|
NM_170707.4(LMNA):c.1225A>C (p.Thr409Pro)
|
|
|
NM_170707.4(LMNA):c.1234G>A (p.Gly412Arg)
|
rs966050612
|
|
NM_170707.4(LMNA):c.1234G>T (p.Gly412Trp)
|
rs966050612
|
|
NM_170707.4(LMNA):c.1237G>T (p.Gly413Cys)
|
rs766811975
|
|
NM_170707.4(LMNA):c.1238G>A (p.Gly413Asp)
|
rs1350031185
|
|
NM_170707.4(LMNA):c.1241G>A (p.Ser414Asn)
|
|
|
NM_170707.4(LMNA):c.1244T>C (p.Val415Ala)
|
|
|
NM_170707.4(LMNA):c.1247C>T (p.Thr416Ile)
|
rs752367284
|
|
NM_170707.4(LMNA):c.1256G>C (p.Arg419Pro)
|
rs777648901
|
|
NM_170707.4(LMNA):c.1271C>G (p.Thr424Ser)
|
rs2102890444
|
|
NM_170707.4(LMNA):c.1271C>T (p.Thr424Ile)
|
|
|
NM_170707.4(LMNA):c.1274A>G (p.Glu425Gly)
|
|
|
NM_170707.4(LMNA):c.1286G>A (p.Ser429Asn)
|
rs1385994420
|
|
NM_170707.4(LMNA):c.1287C>G (p.Ser429Arg)
|
rs1651629254
|
|
NM_170707.4(LMNA):c.1292C>T (p.Ser431Leu)
|
rs1651629810
|
|
NM_170707.4(LMNA):c.130G>T (p.Val44Phe)
|
rs1057518971
|
|
NM_170707.4(LMNA):c.1312G>A (p.Gly438Arg)
|
rs766932100
|
|
NM_170707.4(LMNA):c.1324G>C (p.Val442Leu)
|
rs368542816
|
|
NM_170707.4(LMNA):c.1324G>T (p.Val442Leu)
|
|
|
NM_170707.4(LMNA):c.1325T>C (p.Val442Ala)
|
rs2102891062
|
|
NM_170707.4(LMNA):c.1330G>A (p.Glu444Lys)
|
|
|
NM_170707.4(LMNA):c.1332G>C (p.Glu444Asp)
|
|
|
NM_170707.4(LMNA):c.1334_1342dup (p.Val445_Glu447dup)
|
rs1651638404
|
|
NM_170707.4(LMNA):c.1350G>C (p.Lys450Asn)
|
|
|
NM_170707.4(LMNA):c.1354G>T (p.Val452Phe)
|
rs2102891279
|
|
NM_170707.4(LMNA):c.1355T>C (p.Val452Ala)
|
rs2102891292
|
|
NM_170707.4(LMNA):c.1355T>G (p.Val452Gly)
|
|
|
NM_170707.4(LMNA):c.1361T>C (p.Leu454Pro)
|
rs267607638
|
|
NM_170707.4(LMNA):c.136A>C (p.Ile46Leu)
|
rs267607615
|
|
NM_170707.4(LMNA):c.137T>A (p.Ile46Asn)
|
rs1060502213
|
|
NM_170707.4(LMNA):c.1380G>A (p.Glu460=)
|
rs2102891597
|
|
NM_170707.4(LMNA):c.1381-6C>A
|
rs371635492
|
|
NM_170707.4(LMNA):c.1391T>C (p.Met464Thr)
|
rs1281896947
|
|
NM_170707.4(LMNA):c.1397A>C (p.Asn466Thr)
|
rs1159123077
|
|
NM_170707.4(LMNA):c.139G>C (p.Asp47His)
|
rs267607608
|
|
NM_170707.4(LMNA):c.1422_1424dup (p.Gly474_Asp475insGlu)
|
rs267607579
|
|
NM_170707.4(LMNA):c.1423G>A (p.Asp475Asn)
|
|
|
NM_170707.4(LMNA):c.1424A>G (p.Asp475Gly)
|
rs1651695560
|
|
NM_170707.4(LMNA):c.143G>T (p.Arg48Leu)
|
rs1572332235
|
|
NM_170707.4(LMNA):c.1447T>G (p.Phe483Val)
|
rs1651699171
|
|
NM_170707.4(LMNA):c.1453C>A (p.Pro485Thr)
|
|
|
NM_170707.4(LMNA):c.1453C>G (p.Pro485Ala)
|
rs886042993
|
|
NM_170707.4(LMNA):c.1459T>C (p.Phe487Leu)
|
rs1651700215
|
|
NM_170707.4(LMNA):c.1463C>A (p.Thr488Asn)
|
|
|
NM_170707.4(LMNA):c.1463C>T (p.Thr488Ile)
|
rs2102894189
|
|
NM_170707.4(LMNA):c.1471G>A (p.Ala491Thr)
|
|
|
NM_170707.4(LMNA):c.1474G>A (p.Gly492Arg)
|
rs373480082
|
|
NM_170707.4(LMNA):c.1480G>A (p.Val494Met)
|
|
|
NM_170707.4(LMNA):c.1488+3G>A
|
rs2102894426
|
|
NM_170707.4(LMNA):c.1488+5G>C
|
rs267607543
|
|
NM_170707.4(LMNA):c.1496C>A (p.Ala499Asp)
|
rs2102894911
|
|
NM_170707.4(LMNA):c.1501G>A (p.Gly501Arg)
|
|
|
NM_170707.4(LMNA):c.1508G>A (p.Gly503Glu)
|
|
|
NM_170707.4(LMNA):c.151T>C (p.Ser51Pro)
|
rs1649717627
|
|
NM_170707.4(LMNA):c.1521C>A (p.Ser507Arg)
|
|
|
NM_170707.4(LMNA):c.1523C>A (p.Pro508His)
|
rs1164522299
|
|
NM_170707.4(LMNA):c.1523C>T (p.Pro508Leu)
|
rs1164522299
|
|
NM_170707.4(LMNA):c.1525C>A (p.Pro509Thr)
|
rs762847359
|
|
NM_170707.4(LMNA):c.1525C>T (p.Pro509Ser)
|
rs762847359
|
|
NM_170707.4(LMNA):c.152C>G (p.Ser51Trp)
|
|
|
NM_170707.4(LMNA):c.152C>T (p.Ser51Leu)
|
rs1366035491
|
|
NM_170707.4(LMNA):c.1531G>A (p.Asp511Asn)
|
rs759408439
|
|
NM_170707.4(LMNA):c.1533C>A (p.Asp511Glu)
|
|
|
NM_170707.4(LMNA):c.1546G>A (p.Ala516Thr)
|
rs1383314305
|
|
NM_170707.4(LMNA):c.1547C>T (p.Ala516Val)
|
|
|
NM_170707.4(LMNA):c.1552A>G (p.Asn518Asp)
|
rs757733890
|
|
NM_170707.4(LMNA):c.1565G>A (p.Cys522Tyr)
|
rs1553266145
|
|
NM_170707.4(LMNA):c.1600A>G (p.Thr534Ala)
|
rs1311820114
|
|
NM_170707.4(LMNA):c.1603G>C (p.Gly535Arg)
|
rs1304542176
|
|
NM_170707.4(LMNA):c.1608+4A>G
|
|
|
NM_170707.4(LMNA):c.1609-19G>A
|
|
|
NM_170707.4(LMNA):c.1609-9C>A
|
rs1057522558
|
|
NM_170707.4(LMNA):c.1610A>C (p.Glu537Ala)
|
|
|
NM_170707.4(LMNA):c.1613T>C (p.Val538Ala)
|
rs766555060
|
|
NM_170707.4(LMNA):c.1616C>T (p.Ala539Val)
|
rs1651778506
|
|
NM_170707.4(LMNA):c.1619T>A (p.Met540Lys)
|
|
|
NM_170707.4(LMNA):c.161C>T (p.Thr54Met)
|
rs879253992
|
|
NM_170707.4(LMNA):c.1625A>G (p.Lys542Arg)
|
|
|
NM_170707.4(LMNA):c.1628T>C (p.Leu543Pro)
|
rs886042329
|
|
NM_170707.4(LMNA):c.1630G>A (p.Val544Met)
|
|
|
NM_170707.4(LMNA):c.1631T>C (p.Val544Ala)
|
|
|
NM_170707.4(LMNA):c.1634G>T (p.Arg545Leu)
|
|
|
NM_170707.4(LMNA):c.1640T>C (p.Val547Ala)
|
rs1651784382
|
|
NM_170707.4(LMNA):c.1654G>A (p.Asp552Asn)
|
rs2102898356
|
|
NM_170707.4(LMNA):c.1655A>C (p.Asp552Ala)
|
rs1651785654
|
|
NM_170707.4(LMNA):c.1666G>A (p.Glu556Lys)
|
|
|
NM_170707.4(LMNA):c.1669G>C (p.Asp557His)
|
rs1651789592
|
|
NM_170707.4(LMNA):c.1670A>G (p.Asp557Gly)
|
rs1651789945
|
|
NM_170707.4(LMNA):c.1685T>A (p.Leu562His)
|
rs1057156731
|
|
NM_170707.4(LMNA):c.1687C>T (p.His563Tyr)
|
|
|
NM_170707.4(LMNA):c.1688A>G (p.His563Arg)
|
rs1651792356
|
|
NM_170707.4(LMNA):c.1690C>T (p.His564Tyr)
|
|
|
NM_170707.4(LMNA):c.1692C>A (p.His564Gln)
|
rs1215740582
|
|
NM_170707.4(LMNA):c.1696C>A (p.His566Asn)
|
|
|
NM_170707.4(LMNA):c.1696C>G (p.His566Asp)
|
rs1195284382
|
|
NM_170707.4(LMNA):c.1703C>G (p.Ser568Cys)
|
rs1651856057
|
|
NM_170707.4(LMNA):c.1726C>T (p.Pro576Ser)
|
rs2102901156
|
|
NM_170707.4(LMNA):c.172G>A (p.Gly58Arg)
|
|
|
NM_170707.4(LMNA):c.1748C>G (p.Ser583Trp)
|
rs59601651
|
|
NM_170707.4(LMNA):c.1759C>A (p.Leu587Met)
|
|
|
NM_170707.4(LMNA):c.176T>A (p.Leu59Gln)
|
|
|
NM_170707.4(LMNA):c.1772G>A (p.Cys591Tyr)
|
rs267607556
|
|
NM_170707.4(LMNA):c.1772G>T (p.Cys591Phe)
|
rs267607556
|
|
NM_170707.4(LMNA):c.1775_1786dup (p.Gly592_Ala595dup)
|
rs2102901536
|
|
NM_170707.4(LMNA):c.1778A>G (p.Gln593Arg)
|
rs1164745437
|
|
NM_170707.4(LMNA):c.1784C>G (p.Ala595Gly)
|
|
|
NM_170707.4(LMNA):c.1789A>G (p.Lys597Glu)
|
|
|
NM_170707.4(LMNA):c.1791G>C (p.Lys597Asn)
|
|
|
NM_170707.4(LMNA):c.1791G>T (p.Lys597Asn)
|
|
|
NM_170707.4(LMNA):c.1793C>G (p.Ala598Gly)
|
rs774494686
|
|
NM_170707.4(LMNA):c.1793C>T (p.Ala598Val)
|
rs774494686
|
|
NM_170707.4(LMNA):c.1796C>G (p.Ser599Cys)
|
rs2102901662
|
|
NM_170707.4(LMNA):c.1799C>T (p.Ala600Val)
|
rs1290479309
|
|
NM_170707.4(LMNA):c.1801A>C (p.Ser601Arg)
|
|
|
NM_170707.4(LMNA):c.1811G>A (p.Gly604Glu)
|
rs1651865626
|
|
NM_170707.4(LMNA):c.1812_1823del (p.Ala605_Gly608del)
|
|
|
NM_170707.4(LMNA):c.1813G>T (p.Ala605Ser)
|
rs2102901753
|
|
NM_170707.4(LMNA):c.1814C>A (p.Ala605Asp)
|
|
|
NM_170707.4(LMNA):c.1817A>G (p.Gln606Arg)
|
rs1651866656
|
|
NM_170707.4(LMNA):c.1819del (p.Val607fs)
|
rs1064796394
|
|
NM_170707.4(LMNA):c.1826G>A (p.Gly609Glu)
|
|
|
NM_170707.4(LMNA):c.182T>C (p.Leu61Pro)
|
rs1553261932
|
|
NM_170707.4(LMNA):c.1835C>T (p.Ser612Phe)
|
rs1651868666
|
|
NM_170707.4(LMNA):c.1837T>C (p.Ser613Pro)
|
rs147627124
|
|
NM_170707.4(LMNA):c.1855A>C (p.Ser619Arg)
|
rs1651869846
|
|
NM_170707.4(LMNA):c.1864del (p.Val622fs)
|
|
|
NM_170707.4(LMNA):c.1873A>T (p.Ser625Cys)
|
rs398124550
|
|
NM_170707.4(LMNA):c.1873_1874delinsCC (p.Ser625Pro)
|
rs1553266553
|
|
NM_170707.4(LMNA):c.1880G>C (p.Arg627Pro)
|
rs745997478
|
|
NM_170707.4(LMNA):c.1882A>G (p.Ser628Gly)
|
|
|
NM_170707.4(LMNA):c.1883G>A (p.Ser628Asn)
|
|
|
NM_170707.4(LMNA):c.1885G>A (p.Val629Met)
|
rs1288315740
|
|
NM_170707.4(LMNA):c.1886T>G (p.Val629Gly)
|
|
|
NM_170707.4(LMNA):c.1889G>T (p.Gly630Val)
|
|
|
NM_170707.4(LMNA):c.1892G>C (p.Gly631Ala)
|
rs267607648
|
|
NM_170707.4(LMNA):c.1894A>G (p.Ser632Gly)
|
|
|
NM_170707.4(LMNA):c.1895G>A (p.Ser632Asn)
|
|
|
NM_170707.4(LMNA):c.1896dup (p.Gly633fs)
|
|
|
NM_170707.4(LMNA):c.1900G>A (p.Gly634Ser)
|
rs879254188
|
|
NM_170707.4(LMNA):c.1900G>T (p.Gly634Cys)
|
|
|
NM_170707.4(LMNA):c.1901G>T (p.Gly634Val)
|
rs1470825986
|
|
NM_170707.4(LMNA):c.1907G>A (p.Ser636Asn)
|
rs2102902387
|
|
NM_170707.4(LMNA):c.1916A>G (p.Asp639Gly)
|
rs1572369800
|
|
NM_170707.4(LMNA):c.1917C>A (p.Asp639Glu)
|
rs1558135357
|
|
NM_170707.4(LMNA):c.1918A>G (p.Asn640Asp)
|
|
|
NM_170707.4(LMNA):c.1920T>A (p.Asn640Lys)
|
rs2102902482
|
|
NM_170707.4(LMNA):c.1924G>T (p.Val642Phe)
|
|
|
NM_170707.4(LMNA):c.1928C>T (p.Thr643Ile)
|
rs777900936
|
|
NM_170707.4(LMNA):c.1934C>T (p.Ser645Phe)
|
rs2102902562
|
|
NM_170707.4(LMNA):c.1949A>G (p.Asn650Ser)
|
rs775728847
|
|
NM_170707.4(LMNA):c.1957C>T (p.Pro653Ser)
|
rs2102902626
|
|
NM_170707.4(LMNA):c.1964C>G (p.Thr655Ser)
|
|
|
NM_170707.4(LMNA):c.1969-1G>T
|
rs1060499873
|
|
NM_170707.4(LMNA):c.1970G>A (p.Ser657Asn)
|
rs1651905151
|
|
NM_170707.4(LMNA):c.1971C>A (p.Ser657Arg)
|
rs1023544978
|
|
NM_170707.4(LMNA):c.1985G>A (p.Ser662Asn)
|
|
|
NM_170707.4(LMNA):c.1987A>T (p.Ile663Phe)
|
|
|
NM_170707.4(LMNA):c.1988T>G (p.Ile663Ser)
|
|
|
NM_170707.4(LMNA):c.1990A>T (p.Met664Leu)
|
rs748348868
|
|
NM_170707.4(LMNA):c.1991T>G (p.Met664Arg)
|
|
|
NM_170707.4(LMNA):c.19C>T (p.Arg7Trp)
|
rs1397676761
|
|
NM_170707.4(LMNA):c.200A>G (p.Glu67Gly)
|
rs1649724739
|
|
NM_170707.4(LMNA):c.208G>A (p.Val70Ile)
|
|
|
NM_170707.4(LMNA):c.212G>C (p.Ser71Thr)
|
|
|
NM_170707.4(LMNA):c.212G>T (p.Ser71Ile)
|
|
|
NM_170707.4(LMNA):c.214C>T (p.Arg72Cys)
|
rs17847247
|
|
NM_170707.4(LMNA):c.215G>T (p.Arg72Leu)
|
rs727504340
|
|
NM_170707.4(LMNA):c.224C>A (p.Ser75Tyr)
|
|
|
NM_170707.4(LMNA):c.224C>T (p.Ser75Phe)
|
rs879253975
|
|
NM_170707.4(LMNA):c.226G>A (p.Gly76Ser)
|
rs745651340
|
|
NM_170707.4(LMNA):c.22C>A (p.Arg8Ser)
|
|
|
NM_170707.4(LMNA):c.22C>G (p.Arg8Gly)
|
rs1649697783
|
|
NM_170707.4(LMNA):c.22C>T (p.Arg8Cys)
|
rs1649697783
|
|
NM_170707.4(LMNA):c.230T>C (p.Ile77Thr)
|
rs876657850
|
|
NM_170707.4(LMNA):c.230T>G (p.Ile77Ser)
|
rs876657850
|
|
NM_170707.4(LMNA):c.232A>G (p.Lys78Glu)
|
rs876657851
|
|
NM_170707.4(LMNA):c.234G>C (p.Lys78Asn)
|
rs727505038
|
|
NM_170707.4(LMNA):c.236C>A (p.Ala79Asp)
|
rs1553261972
|
|
NM_170707.4(LMNA):c.238G>C (p.Ala80Pro)
|
rs2102818446
|
|
NM_170707.4(LMNA):c.241T>C (p.Tyr81His)
|
rs1553261977
|
|
NM_170707.4(LMNA):c.242A>G (p.Tyr81Cys)
|
rs879254319
|
|
NM_170707.4(LMNA):c.250G>A (p.Glu84Lys)
|
rs794728602
|
|
NM_170707.4(LMNA):c.251A>G (p.Glu84Gly)
|
|
|
NM_170707.4(LMNA):c.252G>C (p.Glu84Asp)
|
rs794728586
|
|
NM_170707.4(LMNA):c.25G>A (p.Ala9Thr)
|
|
|
NM_170707.4(LMNA):c.25G>C (p.Ala9Pro)
|
|
|
NM_170707.4(LMNA):c.268A>G (p.Lys90Glu)
|
rs1445068583
|
|
NM_170707.4(LMNA):c.272C>T (p.Thr91Ile)
|
rs1306829976
|
|
NM_170707.4(LMNA):c.286G>T (p.Ala96Ser)
|
rs1553262000
|
|
NM_170707.4(LMNA):c.294_295delinsAA (p.Arg99Ser)
|
|
|
NM_170707.4(LMNA):c.295C>T (p.Arg99Cys)
|
rs886045364
|
|
NM_170707.4(LMNA):c.298G>C (p.Ala100Pro)
|
rs886044468
|
|
NM_170707.4(LMNA):c.301C>T (p.Arg101Cys)
|
|
|
NM_170707.4(LMNA):c.302G>A (p.Arg101His)
|
rs267607568
|
|
NM_170707.4(LMNA):c.311T>A (p.Leu104Gln)
|
rs886042953
|
|
NM_170707.4(LMNA):c.313_314delinsTT (p.Glu105Leu)
|
rs2102818950
|
|
NM_170707.4(LMNA):c.315G>C (p.Glu105Asp)
|
rs2102818956
|
|
NM_170707.4(LMNA):c.31C>T (p.Arg11Cys)
|
|
|
NM_170707.4(LMNA):c.322A>G (p.Lys108Glu)
|
|
|
NM_170707.4(LMNA):c.326T>A (p.Val109Glu)
|
rs1649740041
|
|
NM_170707.4(LMNA):c.329G>C (p.Arg110Pro)
|
rs556237236
|
|
NM_170707.4(LMNA):c.32G>T (p.Arg11Leu)
|
rs1649700040
|
|
NM_170707.4(LMNA):c.331GAG[1] (p.Glu112del)
|
rs61726474
|
|
NM_170707.4(LMNA):c.332A>G (p.Glu111Gly)
|
rs1649741467
|
|
NM_170707.4(LMNA):c.334G>A (p.Glu112Lys)
|
rs1553262031
|
|
NM_170707.4(LMNA):c.335A>G (p.Glu112Gly)
|
rs794728587
|
|
NM_170707.4(LMNA):c.339T>A (p.Phe113Leu)
|
rs759878335
|
|
NM_170707.4(LMNA):c.340A>C (p.Lys114Gln)
|
rs767902515
|
|
NM_170707.4(LMNA):c.343G>A (p.Glu115Lys)
|
rs1649743062
|
|
NM_170707.4(LMNA):c.344A>T (p.Glu115Val)
|
rs794728588
|
|
NM_170707.4(LMNA):c.347T>C (p.Leu116Pro)
|
rs2102819141
|
|
NM_170707.4(LMNA):c.352G>T (p.Ala118Ser)
|
rs987482450
|
|
NM_170707.4(LMNA):c.355C>T (p.Arg119Cys)
|
rs17856971
|
|
NM_170707.4(LMNA):c.356+3_356+6del
|
rs1649747081
|
|
NM_170707.4(LMNA):c.356+5G>A
|
rs1572332952
|
|
NM_170707.4(LMNA):c.356G>A (p.Arg119His)
|
|
|
NM_170707.4(LMNA):c.356G>C (p.Arg119Pro)
|
rs397517902
|
|
NM_170707.4(LMNA):c.356G>T (p.Arg119Leu)
|
rs397517902
|
|
NM_170707.4(LMNA):c.364A>C (p.Lys122Gln)
|
rs1222398892
|
|
NM_170707.4(LMNA):c.371A>G (p.Glu124Gly)
|
rs1650969002
|
|
NM_170707.4(LMNA):c.376G>A (p.Asp126Asn)
|
rs1351159308
|
|
NM_170707.4(LMNA):c.378C>A (p.Asp126Glu)
|
rs869025456
|
|
NM_170707.4(LMNA):c.380T>C (p.Leu127Pro)
|
rs2102865527
|
|
NM_170707.4(LMNA):c.389C>A (p.Ala130Asp)
|
rs1650973990
|
|
NM_170707.4(LMNA):c.393G>C (p.Gln131His)
|
rs2102865651
|
|
NM_170707.4(LMNA):c.400C>G (p.Leu134Val)
|
|
|
NM_170707.4(LMNA):c.405_425dup (p.Leu141_Asn142insLysAspLeuGluAlaLeuLeu)
|
|
|
NM_170707.4(LMNA):c.409C>G (p.Leu137Val)
|
rs747998566
|
|
NM_170707.4(LMNA):c.40G>A (p.Ala14Thr)
|
|
|
NM_170707.4(LMNA):c.424A>G (p.Asn142Asp)
|
rs1060502217
|
|
NM_170707.4(LMNA):c.430A>G (p.Lys144Glu)
|
rs2102865891
|
|
NM_170707.4(LMNA):c.430_432del (p.Lys144del)
|
rs1553264615
|
|
NM_170707.4(LMNA):c.431A>G (p.Lys144Arg)
|
|
|
NM_170707.4(LMNA):c.439G>C (p.Ala147Pro)
|
rs139875047
|
|
NM_170707.4(LMNA):c.439G>T (p.Ala147Ser)
|
rs139875047
|
|
NM_170707.4(LMNA):c.44A>C (p.Gln15Pro)
|
rs748918487
|
|
NM_170707.4(LMNA):c.455T>C (p.Leu152Pro)
|
|
|
NM_170707.4(LMNA):c.460G>A (p.Glu154Lys)
|
|
|
NM_170707.4(LMNA):c.470C>G (p.Thr157Arg)
|
rs754097769
|
|
NM_170707.4(LMNA):c.470C>T (p.Thr157Met)
|
rs754097769
|
|
NM_170707.4(LMNA):c.471G>T (p.Thr157=)
|
rs150645079
|
|
NM_170707.4(LMNA):c.475G>C (p.Glu159Gln)
|
|
|
NM_170707.4(LMNA):c.478G>C (p.Gly160Arg)
|
rs765665953
|
|
NM_170707.4(LMNA):c.47C>A (p.Ala16Asp)
|
rs770799870
|
|
NM_170707.4(LMNA):c.47C>T (p.Ala16Val)
|
|
|
NM_170707.4(LMNA):c.489T>G (p.His163Gln)
|
rs1558126350
|
|
NM_170707.4(LMNA):c.490G>A (p.Asp164Asn)
|
|
|
NM_170707.4(LMNA):c.490G>T (p.Asp164Tyr)
|
rs751033102
|
|
NM_170707.4(LMNA):c.491A>G (p.Asp164Gly)
|
rs1650988739
|
|
NM_170707.4(LMNA):c.507G>A (p.Val169=)
|
|
|
NM_170707.4(LMNA):c.511A>G (p.Lys171Glu)
|
rs1650991296
|
|
NM_170707.4(LMNA):c.513+45T>G
|
rs878853220
|
|
NM_170707.4(LMNA):c.513+6G>A
|
rs751256959
|
|
NM_170707.4(LMNA):c.513G>C (p.Lys171Asn)
|
rs267607542
|
|
NM_170707.4(LMNA):c.516T>A (p.Leu172=)
|
|
|
NM_170707.4(LMNA):c.521C>A (p.Ala174Glu)
|
rs762153472
|
|
NM_170707.4(LMNA):c.553G>T (p.Asp185Tyr)
|
|
|
NM_170707.4(LMNA):c.55A>T (p.Thr19Ser)
|
|
|
NM_170707.4(LMNA):c.566G>T (p.Arg189Leu)
|
|
|
NM_170707.4(LMNA):c.575A>G (p.Asp192Gly)
|
rs57045855
|
|
NM_170707.4(LMNA):c.592C>A (p.Gln198Lys)
|
rs1553265165
|
|
NM_170707.4(LMNA):c.59C>T (p.Pro20Leu)
|
rs1553261858
|
|
NM_170707.4(LMNA):c.610C>A (p.Leu204Met)
|
rs1553265177
|
|
NM_170707.4(LMNA):c.610C>G (p.Leu204Val)
|
rs1553265177
|
|
NM_170707.4(LMNA):c.614A>G (p.Asp205Gly)
|
rs1651353565
|
|
NM_170707.4(LMNA):c.622A>C (p.Lys208Gln)
|
rs770744765
|
|
NM_170707.4(LMNA):c.625A>G (p.Asn209Asp)
|
rs2102879291
|
|
NM_170707.4(LMNA):c.629T>C (p.Ile210Thr)
|
rs267607572
|
|
NM_170707.4(LMNA):c.62T>C (p.Leu21Pro)
|
rs1649704361
|
|
NM_170707.4(LMNA):c.634A>C (p.Ser212Arg)
|
|
|
NM_170707.4(LMNA):c.634A>G (p.Ser212Gly)
|
|
|
NM_170707.4(LMNA):c.639+3G>A
|
|
|
NM_170707.4(LMNA):c.639+5G>C
|
rs778763506
|
|
NM_170707.4(LMNA):c.639+6G>A
|
|
|
NM_170707.4(LMNA):c.640-9C>G
|
|
|
NM_170707.4(LMNA):c.647_664dup (p.Arg216_Arg221dup)
|
rs1651388987
|
|
NM_170707.4(LMNA):c.652A>C (p.Thr218Pro)
|
rs886042966
|
|
NM_170707.4(LMNA):c.658C>G (p.Arg220Gly)
|
|
|
NM_170707.4(LMNA):c.661C>T (p.Arg221Cys)
|
rs869025457
|
|
NM_170707.4(LMNA):c.671C>T (p.Thr224Ile)
|
rs1651393059
|
|
NM_170707.4(LMNA):c.676C>G (p.Leu226Val)
|
|
|
NM_170707.4(LMNA):c.679G>A (p.Val227Met)
|
|
|
NM_170707.4(LMNA):c.689A>G (p.Asp230Gly)
|
rs773349450
|
|
NM_170707.4(LMNA):c.691A>G (p.Asn231Asp)
|
|
|
NM_170707.4(LMNA):c.702G>C (p.Gln234His)
|
rs1558129394
|
|
NM_170707.4(LMNA):c.703C>T (p.Arg235Cys)
|
rs201227908
|
|
NM_170707.4(LMNA):c.711_716del (p.Glu238_Ser239del)
|
|
|
NM_170707.4(LMNA):c.719G>A (p.Arg240Gln)
|
|
|
NM_170707.4(LMNA):c.719G>T (p.Arg240Leu)
|
|
|
NM_170707.4(LMNA):c.71C>G (p.Thr24Ser)
|
rs1195524446
|
|
NM_170707.4(LMNA):c.727G>A (p.Asp243Asn)
|
|
|
NM_170707.4(LMNA):c.728A>T (p.Asp243Val)
|
rs1572359925
|
|
NM_170707.4(LMNA):c.729T>G (p.Asp243Glu)
|
rs753243743
|
|
NM_170707.4(LMNA):c.739G>A (p.Glu247Lys)
|
rs727504373
|
|
NM_170707.4(LMNA):c.743T>G (p.Leu248Arg)
|
rs58850446
|
|
NM_170707.4(LMNA):c.748G>A (p.Ala250Thr)
|
rs1572360042
|
|
NM_170707.4(LMNA):c.754C>A (p.His252Asn)
|
rs2102881566
|
|
NM_170707.4(LMNA):c.755A>G (p.His252Arg)
|
|
|
NM_170707.4(LMNA):c.757G>A (p.Glu253Lys)
|
|
|
NM_170707.4(LMNA):c.760G>A (p.Asp254Asn)
|
rs1553265346
|
|
NM_170707.4(LMNA):c.762C>A (p.Asp254Glu)
|
rs1558129629
|
|
NM_170707.4(LMNA):c.76A>G (p.Ile26Val)
|
|
|
NM_170707.4(LMNA):c.772C>G (p.Gln258Glu)
|
rs2102881769
|
|
NM_170707.4(LMNA):c.773A>G (p.Gln258Arg)
|
|
|
NM_170707.4(LMNA):c.778A>G (p.Lys260Glu)
|
|
|
NM_170707.4(LMNA):c.779A>C (p.Lys260Thr)
|
rs2102881862
|
|
NM_170707.4(LMNA):c.781A>G (p.Lys261Glu)
|
|
|
NM_170707.4(LMNA):c.787C>A (p.Leu263Met)
|
rs750246389
|
|
NM_170707.4(LMNA):c.788T>A (p.Leu263Gln)
|
rs267607625
|
|
NM_170707.4(LMNA):c.790_792del (p.Glu264del)
|
rs1553265369
|
|
NM_170707.4(LMNA):c.791AGA[1] (p.Lys265del)
|
rs1553265371
|
|
NM_170707.4(LMNA):c.793A>G (p.Lys265Glu)
|
|
|
NM_170707.4(LMNA):c.800_802dup (p.Tyr267dup)
|
rs2102882045
|
|
NM_170707.4(LMNA):c.805G>C (p.Ala269Pro)
|
rs1558129744
|
|
NM_170707.4(LMNA):c.808A>C (p.Lys270Gln)
|
rs879253920
|
|
NM_170707.4(LMNA):c.80C>G (p.Thr27Ser)
|
rs863225270
|
|
NM_170707.4(LMNA):c.810+4C>A
|
rs780196737
|
|
NM_170707.4(LMNA):c.810+4C>G
|
rs780196737
|
|
NM_170707.4(LMNA):c.824G>A (p.Arg275Lys)
|
|
|
NM_170707.4(LMNA):c.838A>G (p.Arg280Gly)
|
|
|
NM_170707.4(LMNA):c.843C>G (p.Asn281Lys)
|
|
|
NM_170707.4(LMNA):c.853G>T (p.Val285Leu)
|
rs746056534
|
|
NM_170707.4(LMNA):c.859G>A (p.Ala287Thr)
|
|
|
NM_170707.4(LMNA):c.860C>T (p.Ala287Val)
|
rs397517910
|
|
NM_170707.4(LMNA):c.866A>C (p.His289Pro)
|
rs1558130062
|
|
NM_170707.4(LMNA):c.875T>G (p.Leu292Arg)
|
rs1572361004
|
|
NM_170707.4(LMNA):c.877C>G (p.Gln293Glu)
|
rs1553265455
|
|
NM_170707.4(LMNA):c.878A>C (p.Gln293Pro)
|
|
|
NM_170707.4(LMNA):c.878A>G (p.Gln293Arg)
|
|
|
NM_170707.4(LMNA):c.878A>T (p.Gln293Leu)
|
rs1651454980
|
|
NM_170707.4(LMNA):c.883T>C (p.Ser295Pro)
|
rs267607633
|
|
NM_170707.4(LMNA):c.884C>G (p.Ser295Trp)
|
|
|
NM_170707.4(LMNA):c.887G>C (p.Arg296Pro)
|
rs1024051591
|
|
NM_170707.4(LMNA):c.887G>T (p.Arg296Leu)
|
|
|
NM_170707.4(LMNA):c.889A>G (p.Ile297Val)
|
rs886043082
|
|
NM_170707.4(LMNA):c.88C>G (p.Gln30Glu)
|
rs2102817413
|
|
NM_170707.4(LMNA):c.890T>G (p.Ile297Ser)
|
rs1060502212
|
|
NM_170707.4(LMNA):c.893G>T (p.Arg298Leu)
|
rs762653476
|
|
NM_170707.4(LMNA):c.8C>A (p.Thr3Asn)
|
rs1235021953
|
|
NM_170707.4(LMNA):c.902G>A (p.Ser301Asn)
|
rs546272425
|
|
NM_170707.4(LMNA):c.902G>C (p.Ser301Thr)
|
|
|
NM_170707.4(LMNA):c.915G>C (p.Gln305His)
|
|
|
NM_170707.4(LMNA):c.91_92delinsAG (p.Glu31Arg)
|
rs2102817441
|
|
NM_170707.4(LMNA):c.920G>A (p.Ser307Asn)
|
rs759249597
|
|
NM_170707.4(LMNA):c.920G>T (p.Ser307Ile)
|
|
|
NM_170707.4(LMNA):c.931A>G (p.Lys311Glu)
|
rs2102884264
|
|
NM_170707.4(LMNA):c.936G>A (p.Gln312=)
|
rs2102884287
|
|
NM_170707.4(LMNA):c.937-10C>A
|
rs1362695395
|
|
NM_170707.4(LMNA):c.937-9C>A
|
rs1332011298
|
|
NM_170707.4(LMNA):c.937-9_937-8delinsAG
|
rs2102886483
|
|
NM_170707.4(LMNA):c.938T>C (p.Leu313Pro)
|
rs2102886618
|
|
NM_170707.4(LMNA):c.940G>A (p.Ala314Thr)
|
rs769498020
|
|
NM_170707.4(LMNA):c.951G>T (p.Glu317Asp)
|
rs1278448557
|
|
NM_170707.4(LMNA):c.962G>A (p.Arg321Gln)
|
rs1180922815
|
|
NM_170707.4(LMNA):c.971A>G (p.Glu324Gly)
|
rs2102886914
|
|
NM_170707.4(LMNA):c.974A>C (p.Asp325Ala)
|
|
|
NM_170707.4(LMNA):c.976T>G (p.Ser326Ala)
|
rs56851164
|
|
NM_170707.4(LMNA):c.97G>C (p.Glu33Gln)
|
|
|
NM_170707.4(LMNA):c.983C>T (p.Ala328Val)
|
rs1651545788
|
|
NM_170707.4(LMNA):c.985C>A (p.Arg329Ser)
|
rs775159300
|
|
NM_170707.4(LMNA):c.985C>T (p.Arg329Cys)
|
rs775159300
|
|
NM_170707.4(LMNA):c.988G>A (p.Glu330Lys)
|
rs1060502211
|
|
NM_181882.3(PRX):c.1013C>T (p.Ala338Val)
|
rs1368840723
|
|
NM_181882.3(PRX):c.1021G>T (p.Gly341Cys)
|
rs750822167
|
|
NM_181882.3(PRX):c.104C>A (p.Ala35Glu)
|
rs138047753
|
|
NM_181882.3(PRX):c.104C>T (p.Ala35Val)
|
rs138047753
|
|
NM_181882.3(PRX):c.1061C>T (p.Ala354Val)
|
rs2145731516
|
|
NM_181882.3(PRX):c.1097G>A (p.Gly366Glu)
|
|
|
NM_181882.3(PRX):c.112G>C (p.Gly38Arg)
|
|
|
NM_181882.3(PRX):c.113G>A (p.Gly38Asp)
|
|
|
NM_181882.3(PRX):c.1141A>C (p.Ser381Arg)
|
rs1049349860
|
|
NM_181882.3(PRX):c.1160A>G (p.Lys387Arg)
|
rs1438526620
|
|
NM_181882.3(PRX):c.1169G>A (p.Arg390Lys)
|
rs2079447897
|
|
NM_181882.3(PRX):c.1177A>G (p.Met393Val)
|
rs2145731286
|
|
NM_181882.3(PRX):c.1183A>T (p.Thr395Ser)
|
|
|
NM_181882.3(PRX):c.119A>C (p.Glu40Ala)
|
rs2145741372
|
|
NM_181882.3(PRX):c.11G>A (p.Arg4Lys)
|
|
|
NM_181882.3(PRX):c.1228G>A (p.Val410Ile)
|
|
|
NM_181882.3(PRX):c.1283G>C (p.Gly428Ala)
|
|
|
NM_181882.3(PRX):c.130G>C (p.Val44Leu)
|
|
|
NM_181882.3(PRX):c.1324G>A (p.Val442Met)
|
|
|
NM_181882.3(PRX):c.1339G>A (p.Ala447Thr)
|
rs2079445823
|
|
NM_181882.3(PRX):c.1345G>A (p.Glu449Lys)
|
rs2145730978
|
|
NM_181882.3(PRX):c.134G>C (p.Arg45Pro)
|
rs751441856
|
|
NM_181882.3(PRX):c.1369G>C (p.Glu457Gln)
|
rs142064826
|
|
NM_181882.3(PRX):c.1373C>T (p.Ala458Val)
|
|
|
NM_181882.3(PRX):c.1400A>G (p.Glu467Gly)
|
rs2079445212
|
|
NM_181882.3(PRX):c.1404_1481del (p.469ELPKVSEMKLPKVPEMAVPEVRLPEV[1])
|
|
|
NM_181882.3(PRX):c.140T>C (p.Leu47Pro)
|
|
|
NM_181882.3(PRX):c.1450A>G (p.Met484Val)
|
rs1462275457
|
|
NM_181882.3(PRX):c.1466T>A (p.Val489Glu)
|
rs1484709871
|
|
NM_181882.3(PRX):c.1483_1560del (p.469ELPKVSEMKLPKVPEMAVPEVRLPEV[1])
|
rs1555801137
|
|
NM_181882.3(PRX):c.1483_1560dup (p.469ELPKVSEMKLPKVPEMAVPEVRLPEV[3])
|
rs1555801137
|
|
NM_181882.3(PRX):c.1490C>A (p.Pro497His)
|
rs1167411868
|
|
NM_181882.3(PRX):c.1495G>T (p.Val499Leu)
|
|
|
NM_181882.3(PRX):c.1500_1577del (p.Leu523_Leu548del)
|
rs2079442701
|
|
NM_181882.3(PRX):c.151T>C (p.Ser51Pro)
|
rs1462393547
|
|
NM_181882.3(PRX):c.1523C>T (p.Pro508Leu)
|
|
|
NM_181882.3(PRX):c.1547G>A (p.Arg516Gln)
|
rs1035002145
|
|
NM_181882.3(PRX):c.1549C>T (p.Leu517Phe)
|
rs2079443162
|
|
NM_181882.3(PRX):c.1558G>A (p.Val520Ile)
|
rs2079443099
|
|
NM_181882.3(PRX):c.1568_1645del (p.Leu523_Leu548del)
|
|
|
NM_181882.3(PRX):c.1568_1645dup (p.Leu523_Leu548dup)
|
|
|
NM_181882.3(PRX):c.1568_1723del (p.Leu523_Leu574del)
|
rs2079440442
|
|
NM_181882.3(PRX):c.1578_1601dup (p.Lys529_Met536dup)
|
rs764208864
|
|
NM_181882.3(PRX):c.158C>A (p.Ala53Asp)
|
rs753322071
|
|
NM_181882.3(PRX):c.1594_1671dup (p.Lys532_Pro557dup)
|
rs2079441294
|
|
NM_181882.3(PRX):c.1613T>C (p.Val538Ala)
|
rs765791679
|
|
NM_181882.3(PRX):c.1613T>G (p.Val538Gly)
|
|
|
NM_181882.3(PRX):c.1621G>A (p.Val541Met)
|
rs764542785
|
|
NM_181882.3(PRX):c.1627C>T (p.Leu543Phe)
|
rs1370468682
|
|
NM_181882.3(PRX):c.1638_1715del (p.Ser552_Val577del)
|
rs2079440653
|
|
NM_181882.3(PRX):c.1646C>G (p.Pro549Arg)
|
rs150582069
|
|
NM_181882.3(PRX):c.1658A>G (p.Glu553Gly)
|
rs879254301
|
|
NM_181882.3(PRX):c.1664A>G (p.Lys555Arg)
|
rs2145730296
|
|
NM_181882.3(PRX):c.1666_1743del (p.Leu556_Lys581del)
|
rs1599654291
|
|
NM_181882.3(PRX):c.1667T>A (p.Leu556His)
|
rs2079441335
|
|
NM_181882.3(PRX):c.1670C>T (p.Pro557Leu)
|
rs1419440307
|
|
NM_181882.3(PRX):c.1696G>C (p.Glu566Gln)
|
rs2079440933
|
|
NM_181882.3(PRX):c.1708C>G (p.Pro570Ala)
|
rs2145730168
|
|
NM_181882.3(PRX):c.1711G>A (p.Glu571Lys)
|
|
|
NM_181882.3(PRX):c.1718A>G (p.Gln573Arg)
|
rs1289149165
|
|
NM_181882.3(PRX):c.1722_1723delinsCA (p.Pro575Thr)
|
rs2079440418
|
|
NM_181882.3(PRX):c.1724C>T (p.Pro575Leu)
|
rs201829675
|
|
NM_181882.3(PRX):c.1750G>C (p.Glu584Gln)
|
rs2079440126
|
|
NM_181882.3(PRX):c.1759C>T (p.Leu587Phe)
|
rs773206299
|
|
NM_181882.3(PRX):c.1768G>A (p.Val590Met)
|
rs1278199971
|
|
NM_181882.3(PRX):c.176T>C (p.Leu59Pro)
|
rs748318191
|
|
NM_181882.3(PRX):c.1775A>C (p.Glu592Ala)
|
|
|
NM_181882.3(PRX):c.178C>A (p.Gln60Lys)
|
|
|
NM_181882.3(PRX):c.17G>T (p.Arg6Leu)
|
rs774078598
|
|
NM_181882.3(PRX):c.1813C>T (p.Leu605Phe)
|
rs1555801070
|
|
NM_181882.3(PRX):c.184G>A (p.Gly62Arg)
|
rs1205438395
|
|
NM_181882.3(PRX):c.1859A>G (p.Glu620Gly)
|
rs1395113048
|
|
NM_181882.3(PRX):c.1860_2123dup (p.Val714_Cys715insProGluMetLysLeuProGluMetLysLeuProGluValLysLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValProGluMetLysLeuProLysMetProGluMetAlaValProGluValArgLeuProGluValGlnLeuProLysValSerGluMetLysLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysVal)
|
|
|
NM_181882.3(PRX):c.1868T>G (p.Leu623Arg)
|
rs2079438528
|
|
NM_181882.3(PRX):c.1869_1976del (p.Glu633_Pro668del)
|
rs2079436631
|
|
NM_181882.3(PRX):c.1887G>T (p.Met629Ile)
|
|
|
NM_181882.3(PRX):c.1898A>T (p.Glu633Val)
|
rs1599654002
|
|
NM_181882.3(PRX):c.1900_1914del (p.629MKLPE[1])
|
rs575492732
|
|
NM_181882.3(PRX):c.1912G>A (p.Glu638Lys)
|
rs2145729705
|
|
NM_181882.3(PRX):c.191A>G (p.Gln64Arg)
|
|
|
NM_181882.3(PRX):c.1942G>T (p.Ala648Ser)
|
rs950524654
|
|
NM_181882.3(PRX):c.1951G>A (p.Asp651Asn)
|
rs3814290
|
|
NM_181882.3(PRX):c.1955T>C (p.Val652Ala)
|
rs963617308
|
|
NM_181882.3(PRX):c.1959C>A (p.His653Gln)
|
rs760652185
|
|
NM_181882.3(PRX):c.1979C>G (p.Pro660Arg)
|
rs748737580
|
|
NM_181882.3(PRX):c.1991A>G (p.Glu664Gly)
|
rs758728503
|
|
NM_181882.3(PRX):c.1999C>G (p.Leu667Val)
|
rs1599653741
|
|
NM_181882.3(PRX):c.200G>A (p.Ser67Asn)
|
rs1568710768
|
|
NM_181882.3(PRX):c.2028_2213dup (p.Glu677_Pro738dup)
|
rs2145728948
|
|
NM_181882.3(PRX):c.2032G>T (p.Val678Phe)
|
|
|
NM_181882.3(PRX):c.2033T>C (p.Val678Ala)
|
rs1568706919
|
|
NM_181882.3(PRX):c.2077C>G (p.Leu693Val)
|
rs758696889
|
|
NM_181882.3(PRX):c.2107G>C (p.Asp703His)
|
rs756173103
|
|
NM_181882.3(PRX):c.2113C>T (p.His705Tyr)
|
rs2079434434
|
|
NM_181882.3(PRX):c.2115C>G (p.His705Gln)
|
|
|
NM_181882.3(PRX):c.2120C>G (p.Pro707Arg)
|
|
|
NM_181882.3(PRX):c.2134C>T (p.Pro712Ser)
|
rs1463490551
|
|
NM_181882.3(PRX):c.2152A>G (p.Lys718Glu)
|
rs2079433906
|
|
NM_181882.3(PRX):c.2158C>T (p.Pro720Ser)
|
rs1599653417
|
|
NM_181882.3(PRX):c.2176G>A (p.Glu726Lys)
|
|
|
NM_181882.3(PRX):c.2185C>T (p.Leu729Phe)
|
rs2079433471
|
|
NM_181882.3(PRX):c.2215G>A (p.Asp739Asn)
|
rs779294844
|
|
NM_181882.3(PRX):c.2227C>T (p.Pro743Ser)
|
|
|
NM_181882.3(PRX):c.2243C>G (p.Pro748Arg)
|
rs111252437
|
|
NM_181882.3(PRX):c.2245A>G (p.Lys749Glu)
|
rs755014286
|
|
NM_181882.3(PRX):c.2261G>A (p.Arg754Gln)
|
rs760071236
|
|
NM_181882.3(PRX):c.2261G>T (p.Arg754Leu)
|
|
|
NM_181882.3(PRX):c.227A>G (p.Lys76Arg)
|
|
|
NM_181882.3(PRX):c.2281C>T (p.Pro761Ser)
|
rs1430642282
|
|
NM_181882.3(PRX):c.2282C>G (p.Pro761Arg)
|
rs530370432
|
|
NM_181882.3(PRX):c.2293G>A (p.Asp765Asn)
|
rs541455813
|
|
NM_181882.3(PRX):c.2293G>T (p.Asp765Tyr)
|
rs541455813
|
|
NM_181882.3(PRX):c.2305C>T (p.Pro769Ser)
|
|
|
NM_181882.3(PRX):c.2311G>C (p.Ala771Pro)
|
rs1568706134
|
|
NM_181882.3(PRX):c.2312C>T (p.Ala771Val)
|
|
|
NM_181882.3(PRX):c.2317G>C (p.Glu773Gln)
|
|
|
NM_181882.3(PRX):c.2330C>G (p.Pro777Arg)
|
rs2079431092
|
|
NM_181882.3(PRX):c.2332A>G (p.Arg778Gly)
|
rs2079431069
|
|
NM_181882.3(PRX):c.236A>T (p.Asp79Val)
|
rs2079466924
|
|
NM_181882.3(PRX):c.2372_2392del (p.Gln791_Gly798delinsArg)
|
|
|
NM_181882.3(PRX):c.2374G>T (p.Ala792Ser)
|
|
|
NM_181882.3(PRX):c.238G>T (p.Ala80Ser)
|
|
|
NM_181882.3(PRX):c.2399A>G (p.Lys800Arg)
|
rs2145728557
|
|
NM_181882.3(PRX):c.2419C>T (p.Pro807Ser)
|
|
|
NM_181882.3(PRX):c.2440T>C (p.Ser814Pro)
|
rs201809431
|
|
NM_181882.3(PRX):c.2447C>T (p.Ser816Leu)
|
rs556698543
|
|
NM_181882.3(PRX):c.2456A>G (p.Lys819Arg)
|
rs2079429870
|
|
NM_181882.3(PRX):c.2485G>C (p.Gly829Arg)
|
|
|
NM_181882.3(PRX):c.248T>G (p.Leu83Arg)
|
rs1599657876
|
|
NM_181882.3(PRX):c.2509C>G (p.Leu837Val)
|
|
|
NM_181882.3(PRX):c.2582T>G (p.Leu861Arg)
|
rs1192034174
|
|
NM_181882.3(PRX):c.2599C>A (p.Leu867Met)
|
rs2079428174
|
|
NM_181882.3(PRX):c.2605G>A (p.Gly869Arg)
|
rs1555800819
|
|
NM_181882.3(PRX):c.2630G>T (p.Gly877Val)
|
|
|
NM_181882.3(PRX):c.2641C>T (p.Arg881Trp)
|
rs375201649
|
|
NM_181882.3(PRX):c.2645_2646inv (p.Val882Ala)
|
|
|
NM_181882.3(PRX):c.2651G>A (p.Gly884Asp)
|
rs139005780
|
|
NM_181882.3(PRX):c.2666C>A (p.Ala889Glu)
|
rs2145728054
|
|
NM_181882.3(PRX):c.2672T>G (p.Val891Gly)
|
|
|
NM_181882.3(PRX):c.2728G>C (p.Ala910Pro)
|
rs145203783
|
|
NM_181882.3(PRX):c.2744A>T (p.Glu915Val)
|
rs899773763
|
|
NM_181882.3(PRX):c.2750G>A (p.Arg917Gln)
|
|
|
NM_181882.3(PRX):c.2801C>T (p.Pro934Leu)
|
|
|
NM_181882.3(PRX):c.2810G>T (p.Gly937Val)
|
|
|
NM_181882.3(PRX):c.2816C>G (p.Ser939Trp)
|
rs761769929
|
|
NM_181882.3(PRX):c.2819G>A (p.Gly940Glu)
|
rs1322545345
|
|
NM_181882.3(PRX):c.281_283del (p.Phe94del)
|
rs1424434006
|
|
NM_181882.3(PRX):c.2827G>A (p.Val943Met)
|
rs1255146621
|
|
NM_181882.3(PRX):c.2843C>G (p.Ala948Gly)
|
rs2079424981
|
|
NM_181882.3(PRX):c.2854G>C (p.Gly952Arg)
|
rs1060502972
|
|
NM_181882.3(PRX):c.2876T>C (p.Val959Ala)
|
rs1568704784
|
|
NM_181882.3(PRX):c.2888C>T (p.Ala963Val)
|
rs1187783058
|
|
NM_181882.3(PRX):c.2905G>C (p.Ala969Pro)
|
|
|
NM_181882.3(PRX):c.2921_2941del (p.Glu974_Ala980del)
|
rs748965299
|
|
NM_181882.3(PRX):c.2939C>A (p.Ala980Asp)
|
rs2079423739
|
|
NM_181882.3(PRX):c.2942G>A (p.Gly981Glu)
|
rs1568704659
|
|
NM_181882.3(PRX):c.2942G>T (p.Gly981Val)
|
rs1568704659
|
|
NM_181882.3(PRX):c.2960C>T (p.Pro987Leu)
|
|
|
NM_181882.3(PRX):c.296C>T (p.Thr99Ile)
|
rs561203828
|
|
NM_181882.3(PRX):c.2977A>T (p.Ile993Phe)
|
rs1234629496
|
|
NM_181882.3(PRX):c.2986C>T (p.Leu996Phe)
|
|
|
NM_181882.3(PRX):c.2995G>C (p.Asp999His)
|
|
|
NM_181882.3(PRX):c.3011C>T (p.Ser1004Leu)
|
rs996865233
|
|
NM_181882.3(PRX):c.3028G>A (p.Ala1010Thr)
|
rs2079422267
|
|
NM_181882.3(PRX):c.302C>T (p.Pro101Leu)
|
rs1202652443
|
|
NM_181882.3(PRX):c.3050A>C (p.Lys1017Thr)
|
rs538922683
|
|
NM_181882.3(PRX):c.311A>T (p.Asp104Val)
|
|
|
NM_181882.3(PRX):c.3130G>A (p.Glu1044Lys)
|
|
|
NM_181882.3(PRX):c.3142_3147del (p.Lys1048_Gly1049del)
|
rs764547883
|
|
NM_181882.3(PRX):c.3154T>C (p.Trp1052Arg)
|
|
|
NM_181882.3(PRX):c.317C>T (p.Ala106Val)
|
rs2145734161
|
|
NM_181882.3(PRX):c.3190C>G (p.Pro1064Ala)
|
rs937051533
|
|
NM_181882.3(PRX):c.3190C>T (p.Pro1064Ser)
|
rs937051533
|
|
NM_181882.3(PRX):c.320T>G (p.Leu107Arg)
|
|
|
NM_181882.3(PRX):c.3247_3248delinsTG (p.Pro1083Trp)
|
rs2079419662
|
|
NM_181882.3(PRX):c.3254A>G (p.Glu1085Gly)
|
|
|
NM_181882.3(PRX):c.3257A>G (p.Lys1086Arg)
|
|
|
NM_181882.3(PRX):c.3258G>T (p.Lys1086Asn)
|
|
|
NM_181882.3(PRX):c.3263A>G (p.Glu1088Gly)
|
rs758071572
|
|
NM_181882.3(PRX):c.3268A>C (p.Thr1090Pro)
|
|
|
NM_181882.3(PRX):c.3272C>T (p.Ala1091Val)
|
rs2145726879
|
|
NM_181882.3(PRX):c.3280C>T (p.Leu1094Phe)
|
rs2079418891
|
|
NM_181882.3(PRX):c.329G>A (p.Gly110Glu)
|
rs1309370142
|
|
NM_181882.3(PRX):c.3302T>C (p.Leu1101Pro)
|
|
|
NM_181882.3(PRX):c.3314G>C (p.Gly1105Ala)
|
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NM_181882.3(PRX):c.3341G>T (p.Gly1114Val)
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rs772043027
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NM_181882.3(PRX):c.334G>A (p.Val112Met)
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rs1374240096
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NM_181882.3(PRX):c.3351_3352delinsTA (p.Val1118Ile)
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rs2145726691
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NM_181882.3(PRX):c.3352G>T (p.Val1118Phe)
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rs143654708
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NM_181882.3(PRX):c.3365A>G (p.Gln1122Arg)
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rs1287415463
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NM_181882.3(PRX):c.3389C>G (p.Thr1130Arg)
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rs2079417291
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NM_181882.3(PRX):c.3400G>T (p.Val1134Leu)
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rs786204203
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NM_181882.3(PRX):c.3418G>A (p.Asp1140Asn)
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rs1599651064
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NM_181882.3(PRX):c.3447C>T (p.Gly1149=)
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rs1599651000
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NM_181882.3(PRX):c.344A>G (p.Tyr115Cys)
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rs759570608
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NM_181882.3(PRX):c.3462G>C (p.Gln1154His)
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rs374969898
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NM_181882.3(PRX):c.3472A>C (p.Thr1158Pro)
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NM_181882.3(PRX):c.3475G>C (p.Gly1159Arg)
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NM_181882.3(PRX):c.3482G>A (p.Gly1161Glu)
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NM_181882.3(PRX):c.3494C>T (p.Thr1165Ile)
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rs2079415753
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NM_181882.3(PRX):c.3527CAG[1] (p.Ala1177del)
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rs765351391
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NM_181882.3(PRX):c.3536G>A (p.Gly1179Asp)
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rs1306056577
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NM_181882.3(PRX):c.3537C>T (p.Gly1179=)
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rs2079415063
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NM_181882.3(PRX):c.3562C>T (p.Pro1188Ser)
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rs878855284
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NM_181882.3(PRX):c.3595G>C (p.Val1199Leu)
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rs2145726058
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NM_181882.3(PRX):c.35G>C (p.Arg12Thr)
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NM_181882.3(PRX):c.3626G>C (p.Gly1209Ala)
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NM_181882.3(PRX):c.3626dup (p.Val1210fs)
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NM_181882.3(PRX):c.3637A>T (p.Met1213Leu)
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NM_181882.3(PRX):c.370G>A (p.Val124Met)
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rs2079464852
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NM_181882.3(PRX):c.3718G>A (p.Glu1240Lys)
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NM_181882.3(PRX):c.3722G>A (p.Gly1241Asp)
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rs139120811
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NM_181882.3(PRX):c.3737A>G (p.Lys1246Arg)
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rs2079412467
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NM_181882.3(PRX):c.3770G>T (p.Gly1257Val)
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rs1424142560
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NM_181882.3(PRX):c.3785A>G (p.Glu1262Gly)
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rs2145725692
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NM_181882.3(PRX):c.3802G>A (p.Ala1268Thr)
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rs146061247
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NM_181882.3(PRX):c.3835G>C (p.Val1279Leu)
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rs747247972
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NM_181882.3(PRX):c.3859A>C (p.Asn1287His)
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rs2145725536
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NM_181882.3(PRX):c.3863A>T (p.His1288Leu)
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rs1568702462
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NM_181882.3(PRX):c.3868G>A (p.Glu1290Lys)
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rs773955274
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NM_181882.3(PRX):c.3868G>T (p.Glu1290Ter)
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rs773955274
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NM_181882.3(PRX):c.3873C>G (p.Tyr1291Ter)
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rs765769524
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NM_181882.3(PRX):c.3890A>G (p.Glu1297Gly)
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rs2049353803
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NM_181882.3(PRX):c.3916G>A (p.Val1306Ile)
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NM_181882.3(PRX):c.3920G>C (p.Arg1307Pro)
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rs767394584
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NM_181882.3(PRX):c.3935G>T (p.Gly1312Val)
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rs764644013
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NM_181882.3(PRX):c.3961G>A (p.Glu1321Lys)
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rs748063094
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NM_181882.3(PRX):c.3985C>A (p.Pro1329Thr)
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rs1337046069
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NM_181882.3(PRX):c.4004G>A (p.Arg1335Gln)
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rs1384489319
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NM_181882.3(PRX):c.4028T>C (p.Met1343Thr)
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NM_181882.3(PRX):c.4030G>A (p.Val1344Ile)
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rs2079407989
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NM_181882.3(PRX):c.4048C>T (p.Pro1350Ser)
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NM_181882.3(PRX):c.4050del (p.Ser1351fs)
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rs766124869
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NM_181882.3(PRX):c.4058A>C (p.Glu1353Ala)
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rs1555800424
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NM_181882.3(PRX):c.4059GGA[4] (p.Glu1359_Glu1361del)
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rs139624657
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NM_181882.3(PRX):c.4059GGA[9] (p.Glu1360_Glu1361dup)
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rs139624657
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NM_181882.3(PRX):c.406A>G (p.Lys136Glu)
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rs2079459199
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NM_181882.3(PRX):c.407AGA[3] (p.Lys139del)
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rs778666575
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NM_181882.3(PRX):c.4088G>A (p.Ser1363Asn)
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rs1197436795
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NM_181882.3(PRX):c.4097G>A (p.Gly1366Glu)
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rs748112276
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NM_181882.3(PRX):c.4099dup (p.Ala1367fs)
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rs768199280
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NM_181882.3(PRX):c.4102_4117del (p.Ser1368fs)
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rs1487409170
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NM_181882.3(PRX):c.4108C>A (p.Arg1370Ser)
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rs371438221
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NM_181882.3(PRX):c.4108C>T (p.Arg1370Cys)
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rs371438221
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NM_181882.3(PRX):c.4109GCCGGG[3] (p.Arg1373_Val1374insGlyArg)
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NM_181882.3(PRX):c.4119GGTCCG[3] (p.1374VR[3])
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rs748943829
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NM_181882.3(PRX):c.4123C>T (p.Arg1375Trp)
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rs1049231899
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NM_181882.3(PRX):c.4124G>T (p.Arg1375Leu)
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NM_181882.3(PRX):c.4169C>G (p.Ser1390Cys)
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NM_181882.3(PRX):c.4171C>G (p.Arg1391Gly)
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rs369072136
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NM_181882.3(PRX):c.4171C>T (p.Arg1391Trp)
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rs369072136
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NM_181882.3(PRX):c.4172G>C (p.Arg1391Pro)
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rs917161355
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NM_181882.3(PRX):c.4183G>A (p.Gly1395Ser)
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NM_181882.3(PRX):c.4185C>T (p.Gly1395=)
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NM_181882.3(PRX):c.4196C>T (p.Pro1399Leu)
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rs764183288
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NM_181882.3(PRX):c.4205_4206dup (p.Val1403fs)
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NM_181882.3(PRX):c.4207G>A (p.Val1403Ile)
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rs139051512
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NM_181882.3(PRX):c.4217_4218insTGATGCAGCCCCCAAGTCCCCCGTCAGAGAGAA (p.Glu1405_Lys1406insAsnAspAlaAlaProLysSerProValArgGlu)
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NM_181882.3(PRX):c.4232G>A (p.Arg1411His)
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rs1005254872
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NM_181882.3(PRX):c.4240A>G (p.Arg1414Gly)
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rs2145724711
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NM_181882.3(PRX):c.4253G>A (p.Ser1418Asn)
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rs375802521
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NM_181882.3(PRX):c.4267A>C (p.Ser1423Arg)
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rs895345246
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NM_181882.3(PRX):c.4268G>A (p.Ser1423Asn)
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rs2145724650
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NM_181882.3(PRX):c.4270G>A (p.Gly1424Arg)
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rs754032938
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NM_181882.3(PRX):c.4285G>A (p.Glu1429Lys)
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rs2145724616
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NM_181882.3(PRX):c.4288G>T (p.Glu1430Ter)
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NM_181882.3(PRX):c.4300C>T (p.Arg1434Trp)
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NM_181882.3(PRX):c.4304T>C (p.Val1435Ala)
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rs878855285
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NM_181882.3(PRX):c.4306C>T (p.Arg1436Trp)
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rs1332674327
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NM_181882.3(PRX):c.4316G>T (p.Ser1439Ile)
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rs2079403599
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NM_181882.3(PRX):c.4317C>A (p.Ser1439Arg)
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rs372280596
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NM_181882.3(PRX):c.4333A>T (p.Thr1445Ser)
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rs368067072
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NM_181882.3(PRX):c.4343C>T (p.Pro1448Leu)
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NM_181882.3(PRX):c.439G>A (p.Val147Ile)
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NM_181882.3(PRX):c.461T>C (p.Val154Ala)
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rs1555801518
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NM_181882.3(PRX):c.464A>T (p.Asp155Val)
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rs2079458431
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NM_181882.3(PRX):c.466G>T (p.Val156Phe)
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rs562267802
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NM_181882.3(PRX):c.469G>A (p.Glu157Lys)
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rs149219327
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NM_181882.3(PRX):c.478_492del (p.Phe160_Ser164del)
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rs1555801508
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NM_181882.3(PRX):c.479T>C (p.Phe160Ser)
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rs2079458015
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NM_181882.3(PRX):c.500G>A (p.Arg167His)
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rs757322355
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NM_181882.3(PRX):c.509T>C (p.Leu170Pro)
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rs1387520113
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NM_181882.3(PRX):c.551C>G (p.Ala184Gly)
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rs951064135
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NM_181882.3(PRX):c.560G>A (p.Arg187His)
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NM_181882.3(PRX):c.586C>G (p.Arg196Gly)
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rs104894706
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NM_181882.3(PRX):c.587G>A (p.Arg196Gln)
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rs757381967
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NM_181882.3(PRX):c.587G>C (p.Arg196Pro)
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rs757381967
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NM_181882.3(PRX):c.598G>C (p.Glu200Gln)
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rs767207935
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NM_181882.3(PRX):c.604G>T (p.Ala202Ser)
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rs759241041
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NM_181882.3(PRX):c.615_616delinsTT (p.Arg206Trp)
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rs1568709522
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NM_181882.3(PRX):c.616C>T (p.Arg206Trp)
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NM_181882.3(PRX):c.631G>A (p.Ala211Thr)
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rs112973322
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NM_181882.3(PRX):c.631G>T (p.Ala211Ser)
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rs112973322
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NM_181882.3(PRX):c.641C>A (p.Pro214His)
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rs368874138
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NM_181882.3(PRX):c.655G>A (p.Val219Met)
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NM_181882.3(PRX):c.682C>G (p.Arg228Gly)
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rs751238438
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NM_181882.3(PRX):c.682C>T (p.Arg228Cys)
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rs751238438
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NM_181882.3(PRX):c.700G>A (p.Val234Met)
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NM_181882.3(PRX):c.703G>A (p.Glu235Lys)
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rs2079454238
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NM_181882.3(PRX):c.705G>T (p.Glu235Asp)
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rs2079454196
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NM_181882.3(PRX):c.730G>A (p.Ala244Thr)
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rs771211272
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NM_181882.3(PRX):c.730G>T (p.Ala244Ser)
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rs771211272
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NM_181882.3(PRX):c.731C>A (p.Ala244Glu)
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rs118071705
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NM_181882.3(PRX):c.740G>A (p.Gly247Asp)
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rs1568709200
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NM_181882.3(PRX):c.74C>A (p.Ala25Glu)
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rs1555802182
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NM_181882.3(PRX):c.761C>T (p.Pro254Leu)
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rs748153822
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NM_181882.3(PRX):c.773C>A (p.Pro258His)
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rs2079453076
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NM_181882.3(PRX):c.800C>T (p.Ala267Val)
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rs1030892757
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NM_181882.3(PRX):c.805C>T (p.His269Tyr)
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NM_181882.3(PRX):c.821G>A (p.Gly274Glu)
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rs2145732081
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NM_181882.3(PRX):c.829G>T (p.Ala277Ser)
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rs1458620221
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NM_181882.3(PRX):c.832_861del (p.Pro278_Ala287del)
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rs2079451762
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NM_181882.3(PRX):c.847G>T (p.Val283Leu)
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NM_181882.3(PRX):c.862G>C (p.Val288Leu)
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rs568618329
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NM_181882.3(PRX):c.886G>A (p.Glu296Lys)
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rs2079451469
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NM_181882.3(PRX):c.904T>C (p.Ser302Pro)
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NM_181882.3(PRX):c.914C>T (p.Thr305Ile)
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NM_181882.3(PRX):c.917T>C (p.Leu306Pro)
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NM_181882.3(PRX):c.925C>A (p.Leu309Ile)
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NM_181882.3(PRX):c.946G>C (p.Glu316Gln)
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rs1555801306
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NM_181882.3(PRX):c.956T>G (p.Val319Gly)
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NM_181882.3(PRX):c.985G>A (p.Ala329Thr)
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rs745593860
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