NM_001370658.1(BTD):c.1270G>C (p.Asp424His)
|
rs13078881
|
0.03225
|
NM_000518.5(HBB):c.20A>T (p.Glu7Val)
|
rs334
|
0.01298
|
NM_000055.2(BCHE):c.293A>G (p.Asp98Gly)
|
rs1799807
|
0.01259
|
NM_000371.4(TTR):c.424G>A (p.Val142Ile)
|
rs76992529
|
0.00501
|
NM_000518.4(HBB):c.19G>A (p.Glu7Lys)
|
rs33930165
|
0.00414
|
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg)
|
rs34557412
|
0.00403
|
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu)
|
rs77931234
|
0.00363
|
NM_004004.6(GJB2):c.109G>A (p.Val37Ile)
|
rs72474224
|
0.00354
|
NM_000303.3(PMM2):c.422G>A (p.Arg141His)
|
rs28936415
|
0.00338
|
NM_016038.4(SBDS):c.258+2T>C
|
rs113993993
|
0.00323
|
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln)
|
rs34324426
|
0.00294
|
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)
|
rs113624356
|
0.00212
|
NM_001354604.2(MITF):c.1273G>A (p.Glu425Lys)
|
rs149617956
|
0.00160
|
NM_006361.6(HOXB13):c.251G>A (p.Gly84Glu)
|
rs138213197
|
0.00160
|
NM_001041.4(SI):c.3218G>A (p.Gly1073Asp)
|
rs121912616
|
0.00150
|
NM_001041.4(SI):c.5234T>G (p.Phe1745Cys)
|
rs79717168
|
0.00108
|
NM_000112.4(SLC26A2):c.835C>T (p.Arg279Trp)
|
rs104893915
|
0.00106
|
NM_176869.3(PPA2):c.514G>A (p.Glu172Lys)
|
rs146013446
|
0.00070
|
NM_005505.5(SCARB1):c.1127C>T (p.Pro376Leu)
|
rs74830677
|
0.00068
|
NM_001164508.2(NEB):c.23989C>T (p.Arg7997Ter)
|
rs549794342
|
0.00061
|
NM_183050.4(BCKDHB):c.832G>A (p.Gly278Ser)
|
rs386834233
|
0.00061
|
NM_001492.6(GDF1):c.681C>A (p.Cys227Ter)
|
rs121434422
|
0.00058
|
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu)
|
rs140455771
|
0.00041
|
NM_001126108.2(SLC12A3):c.2221G>A (p.Gly741Arg)
|
rs138977195
|
0.00041
|
NM_020117.11(LARS1):c.1292T>A (p.Val431Asp)
|
rs150429680
|
0.00041
|
NM_019109.5(ALG1):c.773C>T (p.Ser258Leu)
|
rs28939378
|
0.00036
|
NM_015836.4(WARS2):c.938A>T (p.Lys313Met)
|
rs145867327
|
0.00035
|
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe)
|
rs5030868
|
0.00028
|
NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln)
|
rs121912707
|
0.00024
|
NM_022437.3(ABCG8):c.1720G>A (p.Gly574Arg)
|
rs137852988
|
0.00022
|
NM_000092.5(COL4A4):c.4715C>T (p.Pro1572Leu)
|
rs121912863
|
0.00019
|
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile)
|
rs121434629
|
0.00018
|
NM_000478.6(ALPL):c.526G>A (p.Ala176Thr)
|
rs121918019
|
0.00016
|
NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter)
|
rs200563280
|
0.00013
|
NM_000520.6(HEXA):c.1305C>T (p.Tyr435=)
|
rs587779406
|
0.00011
|
NM_000153.4(GALC):c.195G>C (p.Gly65=)
|
rs886042057
|
0.00010
|
NM_001352514.2(HLCS):c.1974dup (p.Val659fs)
|
rs767533946
|
0.00009
|
NM_006949.4(STXBP2):c.389T>C (p.Leu130Ser)
|
rs930347206
|
0.00009
|
NM_007194.4(CHEK2):c.444+1G>A
|
rs121908698
|
0.00009
|
NM_000218.3(KCNQ1):c.584G>A (p.Arg195Gln)
|
rs138362632
|
0.00008
|
NM_000124.4(ERCC6):c.2599-26A>G
|
rs4253196
|
0.00006
|
NM_000158.4(GBE1):c.555+1G>T
|
rs759707498
|
0.00006
|
NM_005932.4(MIPEP):c.1534C>G (p.His512Asp)
|
rs779598020
|
0.00006
|
NM_006623.4(PHGDH):c.1468G>A (p.Val490Met)
|
rs121907987
|
0.00006
|
NM_007198.4(PLPBP):c.260C>T (p.Pro87Leu)
|
rs755946598
|
0.00006
|
NM_020117.11(LARS1):c.3313C>T (p.Arg1105Ter)
|
rs369437593
|
0.00006
|
NM_000158.4(GBE1):c.1544G>A (p.Arg515His)
|
rs201958741
|
0.00005
|
NM_000520.6(HEXA):c.533G>A (p.Arg178His)
|
rs28941770
|
0.00005
|
NM_001242882.2(NAXD):c.922C>T (p.Arg308Cys)
|
rs767778853
|
0.00005
|
NM_152906.7(TANGO2):c.605+1G>A
|
rs372949028
|
0.00005
|
NM_000152.5(GAA):c.1548G>A (p.Trp516Ter)
|
rs140826989
|
0.00004
|
NM_000285.4(PEPD):c.1342G>A (p.Gly448Arg)
|
rs121917724
|
0.00004
|
NM_000335.5(SCN5A):c.5827C>T (p.Arg1943Ter)
|
rs794728940
|
0.00004
|
NM_000492.4(CFTR):c.200C>T (p.Pro67Leu)
|
rs368505753
|
0.00004
|
NM_000527.5(LDLR):c.1003G>A (p.Gly335Ser)
|
rs544453230
|
0.00004
|
NM_000527.5(LDLR):c.718G>A (p.Glu240Lys)
|
rs768563000
|
0.00004
|
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu)
|
rs139043155
|
0.00004
|
NM_000789.4(ACE):c.1522C>T (p.Arg508Ter)
|
rs367797185
|
0.00004
|
NM_001605.3(AARS1):c.2251A>G (p.Arg751Gly)
|
rs143370729
|
0.00004
|
NM_003560.4(PLA2G6):c.2221C>T (p.Arg741Trp)
|
rs530348521
|
0.00004
|
NM_004531.5(MOCS2):c.226G>A (p.Gly76Arg)
|
rs780085174
|
0.00004
|
NM_005055.5(RAPSN):c.848T>C (p.Leu283Pro)
|
rs104894293
|
0.00004
|
NM_005159.5(ACTC1):c.28C>A (p.Leu10Met)
|
rs397517057
|
0.00004
|
NM_170707.4(LMNA):c.992G>A (p.Arg331Gln)
|
rs59301204
|
0.00004
|
NM_000018.4(ACADVL):c.1097G>A (p.Arg366His)
|
rs112406105
|
0.00003
|
NM_000083.3(CLCN1):c.1013G>A (p.Arg338Gln)
|
rs80356703
|
0.00003
|
NM_000143.4(FH):c.521C>G (p.Pro174Arg)
|
rs199822819
|
0.00003
|
NM_000170.3(GLDC):c.911C>T (p.Pro304Leu)
|
rs1207147043
|
0.00003
|
NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr)
|
rs3218716
|
0.00003
|
NM_000334.4(SCN4A):c.3466G>A (p.Ala1156Thr)
|
rs80338958
|
0.00003
|
NM_001083116.3(PRF1):c.1122G>A (p.Trp374Ter)
|
rs104894176
|
0.00003
|
NM_001163435.3(TBCK):c.1363A>T (p.Lys455Ter)
|
rs376699648
|
0.00003
|
NM_001399.5(EDA):c.1094T>C (p.Val365Ala)
|
rs397516654
|
0.00003
|
NM_001458.5(FLNC):c.4871C>T (p.Ser1624Leu)
|
rs879255639
|
0.00003
|
NM_005912.3(MC4R):c.449C>T (p.Thr150Ile)
|
rs766665118
|
0.00003
|
NM_020975.6(RET):c.1998G>T (p.Lys666Asn)
|
rs146646971
|
0.00003
|
NM_000256.3(MYBPC3):c.2374T>C (p.Trp792Arg)
|
rs187830361
|
0.00002
|
NM_000285.4(PEPD):c.833G>A (p.Gly278Asp)
|
rs121917723
|
0.00002
|
NM_000352.6(ABCC8):c.2506C>T (p.Arg836Ter)
|
rs72559722
|
0.00002
|
NM_000492.4(CFTR):c.4426C>T (p.Gln1476Ter)
|
rs374705585
|
0.00002
|
NM_001008216.2(GALE):c.151C>T (p.Arg51Trp)
|
rs780517804
|
0.00002
|
NM_001370658.1(BTD):c.1147T>G (p.Phe383Val)
|
rs104893686
|
0.00002
|
NM_001378615.1(CC2D2A):c.3544T>C (p.Trp1182Arg)
|
rs386833755
|
0.00002
|
NM_017837.4(PIGV):c.494C>A (p.Ala165Glu)
|
rs376328153
|
0.00002
|
NM_024417.5(FDXR):c.1156C>T (p.Arg386Trp)
|
rs760345680
|
0.00002
|
NM_031885.5(BBS2):c.118G>T (p.Val40Phe)
|
rs886043059
|
0.00002
|
NM_000094.4(COL7A1):c.7485+5G>A
|
rs988031901
|
0.00001
|
NM_000097.7(CPOX):c.1171C>T (p.Arg391Trp)
|
rs375923779
|
0.00001
|
NM_000170.3(GLDC):c.2614A>T (p.Lys872Ter)
|
rs1430968530
|
0.00001
|
NM_000170.3(GLDC):c.505T>C (p.Ser169Pro)
|
rs1356375715
|
0.00001
|
NM_000199.5(SGSH):c.1298G>A (p.Arg433Gln)
|
rs104894641
|
0.00001
|
NM_000199.5(SGSH):c.544C>T (p.Arg182Cys)
|
rs529855742
|
0.00001
|
NM_000218.3(KCNQ1):c.1085A>G (p.Lys362Arg)
|
rs12720458
|
0.00001
|
NM_000218.3(KCNQ1):c.674C>T (p.Ser225Leu)
|
rs199473456
|
0.00001
|
NM_000303.3(PMM2):c.623G>C (p.Gly208Ala)
|
rs398123309
|
0.00001
|
NM_000314.8(PTEN):c.518G>A (p.Arg173His)
|
rs121913294
|
0.00001
|
NM_000335.5(SCN5A):c.4531C>T (p.Arg1511Trp)
|
rs137854602
|
0.00001
|
NM_000335.5(SCN5A):c.4928G>A (p.Arg1643His)
|
rs28937316
|
0.00001
|
NM_000335.5(SCN5A):c.5126C>T (p.Ser1709Leu)
|
rs137854604
|
0.00001
|
NM_000481.4(AMT):c.958C>T (p.Arg320Cys)
|
rs866625610
|
0.00001
|
NM_000525.4(KCNJ11):c.616C>T (p.Arg206Cys)
|
rs775204908
|
0.00001
|
NM_000527.5(LDLR):c.190+4A>T
|
rs769446356
|
0.00001
|
NM_000527.5(LDLR):c.301G>A (p.Glu101Lys)
|
rs144172724
|
0.00001
|
NM_000540.3(RYR1):c.11315G>A (p.Arg3772Gln)
|
rs193922839
|
0.00001
|
NM_000540.3(RYR1):c.131G>A (p.Arg44His)
|
rs139161723
|
0.00001
|
NM_000540.3(RYR1):c.14818G>A (p.Ala4940Thr)
|
rs118192158
|
0.00001
|
NM_000540.3(RYR1):c.5183C>T (p.Ser1728Phe)
|
rs193922781
|
0.00001
|
NM_000546.6(TP53):c.473G>A (p.Arg158His)
|
rs587782144
|
0.00001
|
NM_001083116.3(PRF1):c.757G>A (p.Glu253Lys)
|
rs771076819
|
0.00001
|
NM_001126108.2(SLC12A3):c.1963C>T (p.Arg655Cys)
|
rs747249619
|
0.00001
|
NM_001358530.2(MOCS1):c.1150+20G>A
|
rs752653792
|
0.00001
|
NM_002180.3(IGHMBP2):c.1273C>T (p.Arg425Cys)
|
rs1303837541
|
0.00001
|
NM_003361.4(UMOD):c.326T>A (p.Val109Glu)
|
rs780462125
|
0.00001
|
NM_003560.4(PLA2G6):c.2035-2A>G
|
rs1602057157
|
0.00001
|
NM_004004.6(GJB2):c.365A>T (p.Lys122Ile)
|
rs111033295
|
0.00001
|
NM_005051.3(QARS1):c.477G>A (p.Trp159Ter)
|
rs776344968
|
0.00001
|
NM_005609.4(PYGM):c.1726C>T (p.Arg576Ter)
|
rs119103255
|
0.00001
|
NM_006208.3(ENPP1):c.749C>T (p.Pro250Leu)
|
rs754659608
|
0.00001
|
NM_006767.4(LZTR1):c.263+1G>A
|
rs761241914
|
0.00001
|
NM_007294.4(BRCA1):c.2706_2707dup (p.Cys903fs)
|
rs80357717
|
0.00001
|
NM_012213.3(MLYCD):c.8G>A (p.Gly3Asp)
|
rs121908081
|
0.00001
|
NM_020442.6(VARS2):c.1468C>T (p.Arg490Ter)
|
rs778868393
|
0.00001
|
NM_021625.5(TRPV4):c.943C>T (p.Arg315Trp)
|
rs267607143
|
0.00001
|
NM_021971.4(GMPPB):c.553C>T (p.Arg185Cys)
|
rs397509425
|
0.00001
|
NM_031885.5(BBS2):c.1438C>T (p.Arg480Ter)
|
rs778090540
|
0.00001
|
NM_032043.3(BRIP1):c.1240C>T (p.Gln414Ter)
|
rs368796923
|
0.00001
|
NM_032756.4(HPDL):c.94C>T (p.Gln32Ter)
|
rs752764598
|
0.00001
|
NM_144997.7(FLCN):c.1579C>T (p.Arg527Ter)
|
rs879255683
|
0.00001
|
NM_183050.4(BCKDHB):c.410C>T (p.Ala137Val)
|
rs776631396
|
0.00001
|
NM_000033.4(ABCD1):c.1903G>A (p.Val635Met)
|
|
|
NM_000048.4(ASL):c.571C>G (p.Arg191Gly)
|
rs143508372
|
|
NM_000051.4(ATM):c.8977C>T (p.Arg2993Ter)
|
rs770641163
|
|
NM_000059.4(BRCA2):c.9593_9594del (p.Cys3198fs)
|
rs1566260198
|
|
NM_000095.3(COMP):c.1569C>G (p.Asn523Lys)
|
rs137852654
|
|
NM_000116.5(TAFAZZIN):c.811C>T (p.Gln271Ter)
|
rs1298362744
|
|
NM_000138.5(FBN1):c.3037G>A (p.Gly1013Arg)
|
rs140593
|
|
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg)
|
rs4647924
|
|
NM_000143.4(FH):c.1108+1G>T
|
rs1057517734
|
|
NM_000157.4(GBA1):c.1448T>G (p.Leu483Arg)
|
rs421016
|
|
NM_000166.6(GJB1):c.65G>A (p.Arg22Gln)
|
rs1060501002
|
|
NM_000170.3(GLDC):c.1545G>C (p.Arg515Ser)
|
rs121964976
|
|
NM_000218.3(KCNQ1):c.573_577del (p.Arg192fs)
|
rs397508118
|
|
NM_000252.3(MTM1):c.1261-10A>G
|
rs397518445
|
|
NM_000256.3(MYBPC3):c.1483C>T (p.Arg495Trp)
|
rs397515905
|
|
NM_000257.4(MYH7):c.1664A>G (p.Asn555Ser)
|
rs876661215
|
|
NM_000271.5(NPC1):c.2713C>T (p.Gln905Ter)
|
rs917070773
|
|
NM_000282.4(PCCA):c.1899+4_1899+7del
|
rs794727334
|
|
NM_000286.3(PEX12):c.730_733dup (p.Leu245fs)
|
rs61752107
|
|
NM_000335.5(SCN5A):c.1140+1G>A
|
rs730880210
|
|
NM_000335.5(SCN5A):c.1218C>A (p.Asn406Lys)
|
rs199473108
|
|
NM_000335.5(SCN5A):c.4427A>C (p.Lys1476Thr)
|
|
|
NM_000346.4(SOX9):c.508C>T (p.Pro170Ser)
|
rs866706988
|
|
NM_000352.6(ABCC8):c.2693G>A (p.Trp898Ter)
|
rs1382448285
|
|
NM_000352.6(ABCC8):c.3130_3149del (p.Thr1044fs)
|
rs886041392
|
|
NM_000352.6(ABCC8):c.4591A>C (p.Thr1531Pro)
|
rs796891223
|
|
NM_000383.4(AIRE):c.1265del (p.Pro422fs)
|
rs764878471
|
|
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)
|
|
|
NM_000402.4(G6PD):c.1243T>C (p.Cys415Arg)
|
rs137852322
|
|
NM_000414.4(HSD17B4):c.868+1del
|
rs749532705
|
|
NM_000466.3(PEX1):c.2097dup (p.Ile700fs)
|
rs61750415
|
|
NM_000466.3(PEX1):c.3574C>T (p.Gln1192Ter)
|
rs1057517467
|
|
NM_000478.6(ALPL):c.746G>T (p.Gly249Val)
|
rs121918018
|
|
NM_000481.4(AMT):c.16del (p.Ser6fs)
|
rs1553638907
|
|
NM_000481.4(AMT):c.797T>C (p.Leu266Pro)
|
rs2049051428
|
|
NM_000489.6(ATRX):c.6254G>A (p.Arg2085His)
|
rs1057517948
|
|
NM_000512.5(GALNS):c.1019G>A (p.Gly340Asp)
|
rs267606838
|
|
NM_000527.5(LDLR):c.1216C>T (p.Arg406Trp)
|
|
|
NM_000527.5(LDLR):c.1897C>T (p.Arg633Cys)
|
|
|
NM_000527.5(LDLR):c.241C>T (p.Arg81Cys)
|
|
|
NM_000531.6(OTC):c.608C>T (p.Ser203Phe)
|
rs72558410
|
|
NM_000540.3(RYR1):c.10501dup (p.Asp3501fs)
|
rs1568537774
|
|
NM_000540.3(RYR1):c.11947C>T (p.Arg3983Cys)
|
rs1600989183
|
|
NM_000540.3(RYR1):c.8342_8343del (p.Ile2781fs)
|
rs758580075
|
|
NM_000552.5(VWF):c.3797C>T (p.Pro1266Leu)
|
rs61749370
|
|
NM_001032386.2(SUOX):c.1390_1391del (p.Leu464fs)
|
rs1592831898
|
|
NM_001039348.3(EFEMP1):c.1033C>T (p.Arg345Trp)
|
rs121434491
|
|
NM_001040142.2(SCN2A):c.5485C>T (p.Leu1829Phe)
|
rs1553463676
|
|
NM_001072.4(UGT1A6):c.862-6799_862-6798insTA
|
rs1559406508
|
|
NM_001089.3(ABCA3):c.3600CTT[3] (p.Phe1203del)
|
rs750862009
|
|
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter)
|
rs61749721
|
|
NM_001134673.4(NFIA):c.2T>C (p.Met1Thr)
|
rs1553148514
|
|
NM_001142730.3(KCTD1):c.2009G>A (p.Gly670Asp)
|
rs587777003
|
|
NM_001164508.2(NEB):c.24579G>A (p.Ser8193=)
|
rs202048855
|
|
NM_001165963.4(SCN1A):c.5168C>T (p.Ser1723Phe)
|
rs796053099
|
|
NM_001170629.2(CHD8):c.4204C>T (p.Arg1402Ter)
|
rs1334692966
|
|
NM_001267550.2(TTN):c.51667C>T (p.Arg17223Ter)
|
rs748956593
|
|
NM_001267550.2(TTN):c.86474T>G (p.Leu28825Ter)
|
rs794729297
|
|
NM_001282531.3(ADNP):c.2188C>T (p.Arg730Ter)
|
rs886041116
|
|
NM_001286704.2(UFM1):c.-273_-271del
|
rs747359907
|
|
NM_001292034.3(TAB2):c.1764+1G>A
|
rs1782223593
|
|
NM_001330260.2(SCN8A):c.3979A>G (p.Ile1327Val)
|
rs879255704
|
|
NM_001330260.2(SCN8A):c.424A>G (p.Ile142Val)
|
rs2138711868
|
|
NM_001356.5(DDX3X):c.874C>T (p.Arg292Ter)
|
rs1555953488
|
|
NM_001363711.2(DUOX2):c.2895_2898del (p.Phe966fs)
|
rs530719719
|
|
NM_001363711.2(DUOX2):c.602dup (p.Gln202fs)
|
rs567500345
|
|
NM_001377142.1(PLCB4):c.1924G>A (p.Asp642Asn)
|
rs1568763104
|
|
NM_001395891.1(CLASP1):c.196-562G>T
|
rs370715569
|
|
NM_001395891.1(CLASP1):c.196-607G>A
|
rs180755563
|
|
NM_001844.5(COL2A1):c.1924G>A (p.Gly642Arg)
|
rs794727472
|
|
NM_001904.4(CTNNB1):c.1981C>T (p.Arg661Ter)
|
rs748294403
|
|
NM_002016.2(FLG):c.1501C>T (p.Arg501Ter)
|
rs61816761
|
|
NM_002016.2(FLG):c.2282_2285del (p.Ser761fs)
|
rs558269137
|
|
NM_002016.2(FLG):c.2427G>A (p.Trp809Ter)
|
rs745516434
|
|
NM_002185.5(IL7R):c.704C>G (p.Ser235Ter)
|
rs766555082
|
|
NM_002709.3(PPP1CB):c.146C>G (p.Pro49Arg)
|
rs886037952
|
|
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val)
|
rs397507547
|
|
NM_002875.5(RAD51):c.877G>A (p.Ala293Thr)
|
rs1057519413
|
|
NM_003104.6(SORD):c.757del (p.Ala253fs)
|
rs55901542
|
|
NM_003491.4(NAA10):c.346C>T (p.Arg116Trp)
|
|
|
NM_004035.7(ACOX1):c.710A>G (p.Asn237Ser)
|
rs1567876984
|
|
NM_004168.4(SDHA):c.688del (p.Glu230fs)
|
rs1553998199
|
|
NM_004247.4(EFTUD2):c.2562-2_2562-1del
|
rs2050474390
|
|
NM_004519.4(KCNQ3):c.689G>A (p.Arg230His)
|
|
|
NM_004612.4(TGFBR1):c.763C>T (p.Arg255Cys)
|
rs1588585570
|
|
NM_004646.4(NPHS1):c.621del (p.Ser208fs)
|
rs2146828521
|
|
NM_004975.4(KCNB1):c.629C>T (p.Thr210Met)
|
rs1555889162
|
|
NM_005055.5(RAPSN):c.280G>A (p.Glu94Lys)
|
|
|
NM_005094.4(SLC27A4):c.1799_1800del (p.Glu600fs)
|
rs758657421
|
|
NM_005609.4(PYGM):c.2262del (p.Lys754fs)
|
rs398124210
|
|
NM_005859.5(PURA):c.691TTC[2] (p.Phe233del)
|
rs786204835
|
|
NM_005909.5(MAP1B):c.907C>T (p.Arg303Ter)
|
rs1554054831
|
|
NM_006009.4(TUBA1A):c.1246G>A (p.Gly416Ser)
|
rs1057521986
|
|
NM_006086.4(TUBB3):c.785G>A (p.Arg262His)
|
rs864321716
|
|
NM_006208.3(ENPP1):c.1025G>T (p.Gly342Val)
|
rs121918025
|
|
NM_006218.4(PIK3CA):c.3012G>A (p.Met1004Ile)
|
rs2108429272
|
|
NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys)
|
|
|
NM_006245.4(PPP2R5D):c.632A>C (p.Gln211Pro)
|
rs1762136390
|
|
NM_006545.5(NPRL2):c.932+1G>A
|
rs1703621639
|
|
NM_006767.4(LZTR1):c.209A>G (p.Lys70Arg)
|
|
|
NM_006767.4(LZTR1):c.2127dup (p.Ile710fs)
|
|
|
NM_006767.4(LZTR1):c.677C>T (p.Pro226Leu)
|
rs2147964011
|
|
NM_006912.6(RIT1):c.244T>G (p.Phe82Val)
|
rs869025194
|
|
NM_007315.4(STAT1):c.1168A>G (p.Met390Val)
|
rs1574648919
|
|
NM_012123.4(MTO1):c.1391G>T (p.Arg464Leu)
|
rs141970072
|
|
NM_012330.4(KAT6B):c.1864C>T (p.Arg622Ter)
|
rs1383727273
|
|
NM_014009.4(FOXP3):c.1010G>A (p.Arg337Gln)
|
rs2066044949
|
|
NM_014159.7(SETD2):c.5218C>T (p.Arg1740Trp)
|
rs1057523157
|
|
NM_014225.6(PPP2R1A):c.544C>T (p.Arg182Trp)
|
rs786205227
|
|
NM_017534.6(MYH2):c.5630T>C (p.Leu1877Pro)
|
rs2142289928
|
|
NM_017780.4(CHD7):c.3881T>C (p.Leu1294Pro)
|
rs864309609
|
|
NM_017825.3(ADPRS):c.530C>T (p.Ser177Leu)
|
rs200626873
|
|
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp)
|
rs398123009
|
|
NM_020822.3(KCNT1):c.1421G>A (p.Arg474His)
|
|
|
NM_020988.3(GNAO1):c.604G>A (p.Val202Ile)
|
rs1297388989
|
|
NM_022114.4(PRDM16):c.213del (p.Val72fs)
|
rs1569798933
|
|
NM_024105.4(ALG12):c.1001del (p.Asn334fs)
|
rs759244819
|
|
NM_024685.4(BBS10):c.2119_2120del (p.Thr706_Val707insTer)
|
rs775950661
|
|
NM_032043.3(BRIP1):c.1234_1235del (p.Glu412fs)
|
rs1064795649
|
|
NM_032043.3(BRIP1):c.2992_2993del (p.Lys998fs)
|
rs878855151
|
|
NM_054012.4(ASS1):c.774-2A>G
|
rs1588496214
|
|
NM_078480.3(PUF60):c.389G>A (p.Arg130His)
|
rs1554643584
|
|
NM_138477.4(CDAN1):c.2062C>T (p.Arg688Trp)
|
|
|
NM_138694.4(PKHD1):c.3766del (p.Gln1256fs)
|
rs746972457
|
|
NM_139276.3(STAT3):c.82A>G (p.Met28Val)
|
rs2145013673
|
|
NM_144773.4(PROKR2):c.254G>A (p.Arg85His)
|
rs74315418
|
|
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
|
|
|
NM_152296.5(ATP1A3):c.2116G>A (p.Gly706Arg)
|
rs782175860
|
|
NM_152743.4(BRAT1):c.2125_2128del (p.Phe709fs)
|
rs763527391
|
|
NM_152743.4(BRAT1):c.638dup (p.Val214fs)
|
rs730880324
|
|
NM_153240.5(NPHP3):c.634dup (p.Glu212fs)
|
rs747052534
|
|
NM_170707.4(LMNA):c.1622G>A (p.Arg541His)
|
rs61444459
|
|
NM_172107.4(KCNQ2):c.2126dup (p.Val710fs)
|
rs1555850842
|
|
NM_172107.4(KCNQ2):c.430C>G (p.Arg144Gly)
|
rs1555873985
|
|
NM_173689.7(CRB2):c.3089_3104dup (p.Gly1036fs)
|
rs879255251
|
|
NM_182916.3(TRNT1):c.443C>T (p.Ala148Val)
|
rs761516140
|
|
NM_198576.4(AGRN):c.5011C>T (p.Arg1671Ter)
|
|
|
Single allele
|
|
|