NM_003126.4(SPTA1):c.6531-12C>T
|
rs28525570
|
0.25447
|
NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His)
|
rs62642564
|
0.00654
|
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala)
|
rs76157638
|
0.00445
|
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr)
|
rs17879961
|
0.00434
|
NM_000055.4(BCHE):c.635C>T (p.Ala212Val)
|
rs114706984
|
0.00254
|
NM_000552.5(VWF):c.4751A>G (p.Tyr1584Cys)
|
rs1800386
|
0.00237
|
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu)
|
rs113994096
|
0.00160
|
NM_002693.3(POLG):c.752C>T (p.Thr251Ile)
|
rs113994094
|
0.00159
|
NM_020070.4(IGLL1):c.425C>T (p.Pro142Leu)
|
rs1064422
|
0.00104
|
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg)
|
rs121918054
|
0.00096
|
NM_201253.3(CRB1):c.2506C>A (p.Pro836Thr)
|
rs116471343
|
0.00096
|
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu)
|
rs111033212
|
0.00077
|
NM_000350.3(ABCA4):c.6089G>A (p.Arg2030Gln)
|
rs61750641
|
0.00048
|
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu)
|
rs140455771
|
0.00041
|
NM_006005.3(WFS1):c.1672C>T (p.Arg558Cys)
|
rs199946797
|
0.00035
|
NM_012452.3(TNFRSF13B):c.260T>A (p.Ile87Asn)
|
rs72553877
|
0.00034
|
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met)
|
rs142763740
|
0.00032
|
NM_007272.3(CTRC):c.746C>T (p.Pro249Leu)
|
rs142560329
|
0.00022
|
NM_000017.4(ACADS):c.1058C>T (p.Ser353Leu)
|
rs28941773
|
0.00020
|
NM_000492.4(CFTR):c.2855T>C (p.Met952Thr)
|
rs142773283
|
0.00019
|
NM_000492.4(CFTR):c.1853T>C (p.Ile618Thr)
|
rs139468767
|
0.00016
|
NM_000552.5(VWF):c.7390C>T (p.Arg2464Cys)
|
rs61751286
|
0.00014
|
NM_000071.3(CBS):c.146C>T (p.Pro49Leu)
|
rs148865119
|
0.00013
|
NM_000132.4(F8):c.222G>A (p.Thr74=)
|
rs1232517683
|
0.00012
|
NM_000256.3(MYBPC3):c.442G>A (p.Gly148Arg)
|
rs397516050
|
0.00011
|
NM_000492.4(CFTR):c.1001G>A (p.Arg334Gln)
|
rs397508137
|
0.00011
|
NM_000435.3(NOTCH3):c.1630C>T (p.Arg544Cys)
|
rs201118034
|
0.00010
|
NM_000552.5(VWF):c.4195C>T (p.Arg1399Cys)
|
rs61750077
|
0.00010
|
NM_000492.4(CFTR):c.2657+2_2657+3insA
|
rs397508414
|
0.00009
|
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys)
|
rs104894408
|
0.00009
|
NM_000243.3(MEFV):c.1958G>A (p.Arg653His)
|
rs104895085
|
0.00007
|
NM_001081.4(CUBN):c.1010C>T (p.Pro337Leu)
|
rs202153130
|
0.00007
|
NM_012186.3(FOXE3):c.232G>A (p.Ala78Thr)
|
rs377669670
|
0.00007
|
NM_000520.6(HEXA):c.806-7G>A
|
rs770932296
|
0.00006
|
NM_006767.4(LZTR1):c.1397G>A (p.Arg466Gln)
|
rs587777180
|
0.00006
|
NM_153700.2(STRC):c.4675C>T (p.Gln1559Ter)
|
rs147717802
|
0.00006
|
NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn)
|
rs74315445
|
0.00005
|
NM_000463.3(UGT1A1):c.524T>A (p.Leu175Gln)
|
rs72551341
|
0.00005
|
NM_000492.4(CFTR):c.3200C>T (p.Ala1067Val)
|
rs1800114
|
0.00005
|
NM_000238.4(KCNH2):c.2863C>G (p.Leu955Val)
|
rs199473012
|
0.00004
|
NM_000335.5(SCN5A):c.4874G>A (p.Arg1625His)
|
rs199473283
|
0.00004
|
NM_000371.4(TTR):c.262A>T (p.Ile88Leu)
|
rs121918085
|
0.00004
|
NM_000435.3(NOTCH3):c.1732C>T (p.Arg578Cys)
|
rs769773673
|
0.00004
|
NM_000492.4(CFTR):c.3874-4522A>G
|
rs895394181
|
0.00004
|
NM_000492.4(CFTR):c.794T>G (p.Met265Arg)
|
rs148519623
|
0.00004
|
NM_000517.6(HBA2):c.163C>T (p.Gln55Ter)
|
rs281864840
|
0.00004
|
NM_001005242.3(PKP2):c.2352C>T (p.Gly784=)
|
rs727504509
|
0.00004
|
NM_012472.6(DNAAF11):c.2T>A (p.Met1Lys)
|
rs377278570
|
0.00004
|
NM_000018.4(ACADVL):c.1838G>A (p.Arg613Gln)
|
rs534647044
|
0.00003
|
NM_000132.4(F8):c.5144G>A (p.Arg1715Gln)
|
rs781876217
|
0.00003
|
NM_000298.6(PKLR):c.401T>A (p.Val134Asp)
|
rs574051756
|
0.00003
|
NM_000402.4(G6PD):c.1114C>T (p.Leu372Phe)
|
rs137852342
|
0.00003
|
NM_000517.4(HBA2):c.142G>C (p.Asp48His)
|
rs281864834
|
0.00003
|
NM_000517.6(HBA2):c.178G>C (p.Gly60Arg)
|
rs41328049
|
0.00003
|
NM_000540.3(RYR1):c.1589G>A (p.Arg530His)
|
rs111888148
|
0.00003
|
NM_000552.5(VWF):c.2447G>A (p.Arg816Gln)
|
rs62643634
|
0.00003
|
NM_001009944.3(PKD1):c.3496G>A (p.Gly1166Ser)
|
rs573566419
|
0.00003
|
NM_004004.6(GJB2):c.571T>C (p.Phe191Leu)
|
rs397516878
|
0.00003
|
NM_020779.4(WDR35):c.932G>T (p.Trp311Leu)
|
rs200649783
|
0.00003
|
NM_020975.6(RET):c.1998G>T (p.Lys666Asn)
|
rs146646971
|
0.00003
|
NM_054012.4(ASS1):c.1069C>T (p.Gln357Ter)
|
rs756859126
|
0.00003
|
NM_000179.3(MSH6):c.3226C>T (p.Arg1076Cys)
|
rs63750617
|
0.00002
|
NM_000463.3(UGT1A1):c.1175C>T (p.Pro392Leu)
|
rs886043066
|
0.00002
|
NM_000463.3(UGT1A1):c.992A>G (p.Gln331Arg)
|
rs72551348
|
0.00002
|
NM_000942.5(PPIB):c.344-1G>T
|
rs748284900
|
0.00002
|
NM_001267550.2(TTN):c.98299_98300del (p.Arg32767fs)
|
rs397517776
|
0.00002
|
NM_001360016.2(G6PD):c.406C>T (p.Arg136Cys)
|
rs979416826
|
0.00002
|
NM_054012.4(ASS1):c.836G>A (p.Arg279Gln)
|
rs371265106
|
0.00002
|
NM_000018.4(ACADVL):c.881G>A (p.Gly294Glu)
|
rs200573371
|
0.00001
|
NM_000059.4(BRCA2):c.7871A>G (p.Tyr2624Cys)
|
rs431825358
|
0.00001
|
NM_000059.4(BRCA2):c.8350C>T (p.Arg2784Trp)
|
rs80359075
|
0.00001
|
NM_000077.5(CDKN2A):c.259C>T (p.Arg87Trp)
|
rs749714198
|
0.00001
|
NM_000090.4(COL3A1):c.3166G>A (p.Gly1056Ser)
|
rs1223008559
|
0.00001
|
NM_000091.5(COL4A3):c.361G>A (p.Gly121Ser)
|
rs778886174
|
0.00001
|
NM_000091.5(COL4A3):c.443G>T (p.Gly148Val)
|
rs775373641
|
0.00001
|
NM_000133.4(F9):c.224G>A (p.Arg75Gln)
|
rs137852228
|
0.00001
|
NM_000138.5(FBN1):c.2977T>C (p.Cys993Arg)
|
rs1206813753
|
0.00001
|
NM_000138.5(FBN1):c.6806T>C (p.Ile2269Thr)
|
rs193922228
|
0.00001
|
NM_000155.4(GALT):c.593T>C (p.Ile198Thr)
|
rs1483461355
|
0.00001
|
NM_000155.4(GALT):c.772C>T (p.Arg258Cys)
|
rs368166217
|
0.00001
|
NM_000255.4(MMUT):c.1276G>A (p.Gly426Arg)
|
rs769922244
|
0.00001
|
NM_000298.6(PKLR):c.1082A>C (p.Asn361Thr)
|
rs1358047518
|
0.00001
|
NM_000298.6(PKLR):c.1595G>A (p.Arg532Gln)
|
rs758278200
|
0.00001
|
NM_000298.6(PKLR):c.187G>A (p.Ala63Thr)
|
rs1165604977
|
0.00001
|
NM_000371.4(TTR):c.239C>T (p.Thr80Ile)
|
rs1254341785
|
0.00001
|
NM_000384.3(APOB):c.10679A>G (p.Tyr3560Cys)
|
rs745721296
|
0.00001
|
NM_000435.3(NOTCH3):c.3062A>G (p.Tyr1021Cys)
|
rs1167405466
|
0.00001
|
NM_000435.3(NOTCH3):c.3356G>A (p.Cys1119Tyr)
|
rs1266914122
|
0.00001
|
NM_000435.3(NOTCH3):c.3403G>T (p.Gly1135Cys)
|
rs867379493
|
0.00001
|
NM_000435.3(NOTCH3):c.619C>T (p.Arg207Cys)
|
rs775267348
|
0.00001
|
NM_000463.3(UGT1A1):c.923G>A (p.Gly308Glu)
|
rs62625011
|
0.00001
|
NM_000478.6(ALPL):c.1403C>T (p.Ala468Val)
|
rs766656419
|
0.00001
|
NM_000492.4(CFTR):c.1724T>A (p.Phe575Tyr)
|
rs773569201
|
0.00001
|
NM_000492.4(CFTR):c.2930C>T (p.Ser977Phe)
|
rs141033578
|
0.00001
|
NM_000492.4(CFTR):c.3737C>T (p.Thr1246Ile)
|
rs397508600
|
0.00001
|
NM_000492.4(CFTR):c.377G>A (p.Gly126Asp)
|
rs397508609
|
0.00001
|
NM_000492.4(CFTR):c.476T>C (p.Leu159Ser)
|
rs397508727
|
0.00001
|
NM_000518.5(HBB):c.-122T>A
|
rs1272414751
|
0.00001
|
NM_000518.5(HBB):c.341T>A (p.Val114Glu)
|
rs34484056
|
0.00001
|
NM_000520.6(HEXA):c.772G>C (p.Asp258His)
|
rs121907971
|
0.00001
|
NM_000527.5(LDLR):c.1238C>T (p.Thr413Met)
|
rs368562025
|
0.00001
|
NM_000527.5(LDLR):c.337G>A (p.Glu113Lys)
|
rs769383881
|
0.00001
|
NM_000527.5(LDLR):c.631C>T (p.His211Tyr)
|
rs771917370
|
0.00001
|
NM_000535.7(PMS2):c.1144+1G>A
|
rs373885654
|
0.00001
|
NM_000545.8(HNF1A):c.1556C>T (p.Pro519Leu)
|
rs749673816
|
0.00001
|
NM_000551.4(VHL):c.492G>C (p.Gln164His)
|
rs1352275281
|
0.00001
|
NM_000552.5(VWF):c.2278C>T (p.Arg760Cys)
|
rs61748466
|
0.00001
|
NM_000552.5(VWF):c.3944G>A (p.Arg1315His)
|
rs61749396
|
0.00001
|
NM_000558.3(HBA1):c.389T>C (p.Leu130Pro)
|
rs35993655
|
0.00001
|
NM_000558.5(HBA1):c.326C>A (p.Thr109Asn)
|
rs756810015
|
0.00001
|
NM_001191061.2(SLC25A22):c.735_736del (p.Pro245_Cys246insTer)
|
rs796053242
|
0.00001
|
NM_001370259.2(MEN1):c.1354C>T (p.Arg452Trp)
|
rs863224810
|
0.00001
|
NM_003000.3(SDHB):c.221A>C (p.Asp74Ala)
|
rs876658713
|
0.00001
|
NM_003000.3(SDHB):c.380T>G (p.Ile127Ser)
|
rs786201095
|
0.00001
|
NM_003126.4(SPTA1):c.1086A>G (p.Arg362=)
|
rs1374378636
|
0.00001
|
NM_003126.4(SPTA1):c.5620C>T (p.Arg1874Ter)
|
rs749880846
|
0.00001
|
NM_004004.6(GJB2):c.279G>A (p.Met93Ile)
|
rs397516871
|
0.00001
|
NM_004444.5(EPHB4):c.2512C>T (p.Arg838Trp)
|
rs764827256
|
0.00001
|
NM_005529.7(HSPG2):c.8017C>T (p.Arg2673Ter)
|
rs745338204
|
0.00001
|
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln)
|
rs41293459
|
0.00001
|
NM_014236.4(GNPAT):c.1003C>T (p.Arg335Ter)
|
rs777894746
|
0.00001
|
NM_014249.4(NR2E3):c.1007T>C (p.Leu336Pro)
|
rs752883545
|
0.00001
|
NM_020320.5(RARS2):c.1406G>A (p.Arg469His)
|
rs759331139
|
0.00001
|
NM_020779.4(WDR35):c.2590G>A (p.Ala864Thr)
|
rs267607175
|
0.00001
|
NM_022124.6(CDH23):c.3016G>A (p.Glu1006Lys)
|
rs745571683
|
0.00001
|
NM_153700.2(STRC):c.4012C>T (p.Arg1338Ter)
|
rs755471554
|
0.00001
|
NM_170707.4(LMNA):c.1412G>A (p.Arg471His)
|
rs267607578
|
0.00001
|
G6PD NARA
|
rs587776730
|
|
NC_012920.1:m.4983C>T
|
rs1556422937
|
|
NM_000018.4(ACADVL):c.1019G>T (p.Gly340Val)
|
rs934797393
|
|
NM_000018.4(ACADVL):c.566T>C (p.Ile189Thr)
|
rs1567563311
|
|
NM_000020.3(ACVRL1):c.1115C>T (p.Thr372Ile)
|
rs1565594920
|
|
NM_000020.3(ACVRL1):c.1321G>A (p.Val441Met)
|
rs1565596498
|
|
NM_000020.3(ACVRL1):c.677T>A (p.Val226Glu)
|
rs1565593639
|
|
NM_000021.4(PSEN1):c.703C>G (p.Leu235Val)
|
rs63751130
|
|
NM_000033.4(ABCD1):c.1771C>T (p.Arg591Trp)
|
rs398123106
|
|
NM_000033.4(ABCD1):c.1883T>C (p.Leu628Pro)
|
rs2148399204
|
|
NM_000033.4(ABCD1):c.838C>T (p.Arg280Cys)
|
rs193922098
|
|
NM_000037.4(ANK1):c.3623_3624del (p.Ser1208fs)
|
rs1586144223
|
|
NM_000038.6(APC):c.1229dup (p.Leu410fs)
|
rs863225308
|
|
NM_000038.6(APC):c.135+2T>C
|
rs1554067164
|
|
NM_000051.4(ATM):c.7089+2T>G
|
rs1057516235
|
|
NM_000051.4(ATM):c.8122G>A (p.Asp2708Asn)
|
rs587782719
|
|
NM_000052.7(ATP7A):c.2406G>C (p.Lys802Asn)
|
rs2077838704
|
|
NM_000053.4(ATP7B):c.3272G>A (p.Cys1091Tyr)
|
rs778825095
|
|
NM_000059.4(BRCA2):c.7007+5G>A
|
rs81002816
|
|
NM_000059.4(BRCA2):c.7975A>G (p.Arg2659Gly)
|
rs80359026
|
|
NM_000059.4(BRCA2):c.7987G>A (p.Glu2663Lys)
|
rs80359030
|
|
NM_000059.4(BRCA2):c.8057T>C (p.Leu2686Pro)
|
rs28897746
|
|
NM_000059.4(BRCA2):c.9227G>A (p.Gly3076Glu)
|
rs80359187
|
|
NM_000059.4(BRCA2):c.9302T>G (p.Leu3101Arg)
|
rs28897758
|
|
NM_000071.3(CBS):c.816T>A (p.Cys272Ter)
|
rs528689432
|
|
NM_000088.4(COL1A1):c.1102G>C (p.Gly368Arg)
|
rs72645367
|
|
NM_000088.4(COL1A1):c.1238G>A (p.Gly413Asp)
|
rs72648325
|
|
NM_000088.4(COL1A1):c.1247G>T (p.Gly416Val)
|
rs1135401953
|
|
NM_000088.4(COL1A1):c.1382G>C (p.Gly461Ala)
|
rs1598296202
|
|
NM_000088.4(COL1A1):c.1724G>A (p.Gly575Asp)
|
rs1567759163
|
|
NM_000088.4(COL1A1):c.1945_1953del (p.Ala649_Pro651del)
|
rs2144563120
|
|
NM_000088.4(COL1A1):c.2021G>A (p.Gly674Glu)
|
rs1567757713
|
|
NM_000088.4(COL1A1):c.2489G>C (p.Gly830Ala)
|
rs1906940342
|
|
NM_000088.4(COL1A1):c.2588G>A (p.Gly863Asp)
|
rs886043749
|
|
NM_000088.4(COL1A1):c.2650G>A (p.Gly884Ser)
|
rs1567755602
|
|
NM_000088.4(COL1A1):c.2705G>A (p.Gly902Asp)
|
|
|
NM_000088.4(COL1A1):c.3226G>A (p.Gly1076Ser)
|
rs67394386
|
|
NM_000088.4(COL1A1):c.3379G>C (p.Gly1127Arg)
|
rs1555572024
|
|
NM_000088.4(COL1A1):c.3469G>C (p.Gly1157Arg)
|
rs1278821174
|
|
NM_000088.4(COL1A1):c.3479G>A (p.Gly1160Asp)
|
rs886039726
|
|
NM_000088.4(COL1A1):c.3533G>A (p.Gly1178Asp)
|
rs72656329
|
|
NM_000088.4(COL1A1):c.3541G>A (p.Gly1181Ser)
|
rs72656330
|
|
NM_000089.4(COL1A2):c.115G>A (p.Gly39Arg)
|
|
|
NM_000089.4(COL1A2):c.1496G>T (p.Gly499Val)
|
rs72658122
|
|
NM_000089.4(COL1A2):c.1541G>C (p.Gly514Ala)
|
rs1791962073
|
|
NM_000089.4(COL1A2):c.2042_2059del (p.Val681_Pro686del)
|
|
|
NM_000089.4(COL1A2):c.2989G>A (p.Gly997Ser)
|
rs1562907287
|
|
NM_000089.4(COL1A2):c.3116G>A (p.Gly1039Asp)
|
rs72659326
|
|
NM_000089.4(COL1A2):c.964G>A (p.Gly322Ser)
|
rs72656394
|
|
NM_000090.4(COL3A1):c.1285G>A (p.Gly429Ser)
|
rs1559056179
|
|
NM_000090.4(COL3A1):c.1663-1G>A
|
rs749145939
|
|
NM_000090.4(COL3A1):c.3572G>A (p.Gly1191Asp)
|
rs587779703
|
|
NM_000090.4(COL3A1):c.818G>A (p.Gly273Glu)
|
|
|
NM_000091.5(COL4A3):c.688G>A (p.Gly230Ser)
|
rs2125932297
|
|
NM_000092.5(COL4A4):c.3124G>A (p.Gly1042Ser)
|
|
|
NM_000092.5(COL4A4):c.594+1G>A
|
rs1553690565
|
|
NM_000095.3(COMP):c.1675G>A (p.Glu559Lys)
|
rs1568554484
|
|
NM_000132.4(F8):c.101A>T (p.Asp34Val)
|
|
|
NM_000132.4(F8):c.1175C>T (p.Ser392Leu)
|
rs28933668
|
|
NM_000132.4(F8):c.1247C>T (p.Pro416Leu)
|
|
|
NM_000132.4(F8):c.1312A>T (p.Ile438Phe)
|
|
|
NM_000132.4(F8):c.1639T>C (p.Cys547Arg)
|
|
|
NM_000132.4(F8):c.1648C>G (p.Arg550Gly)
|
rs137852417
|
|
NM_000132.4(F8):c.1808G>A (p.Ser603Asn)
|
|
|
NM_000132.4(F8):c.1952A>C (p.His651Pro)
|
rs1569559758
|
|
NM_000132.4(F8):c.2161A>C (p.Met721Leu)
|
rs1305924233
|
|
NM_000132.4(F8):c.335C>T (p.Ser112Phe)
|
|
|
NM_000132.4(F8):c.5143C>G (p.Arg1715Gly)
|
rs137852439
|
|
NM_000132.4(F8):c.5417C>T (p.Ser1806Phe)
|
rs1569559523
|
|
NM_000132.4(F8):c.5587-93C>T
|
rs1264918703
|
|
NM_000132.4(F8):c.5696T>C (p.Phe1899Ser)
|
rs1486435006
|
|
NM_000132.4(F8):c.5843T>G (p.Leu1948Arg)
|
|
|
NM_000132.4(F8):c.5939A>G (p.His1980Arg)
|
rs1569559516
|
|
NM_000132.4(F8):c.5941G>A (p.Val1981Met)
|
|
|
NM_000132.4(F8):c.6278A>T (p.Asp2093Val)
|
rs137852457
|
|
NM_000132.4(F8):c.6320G>A (p.Gly2107Asp)
|
rs1190705187
|
|
NM_000132.4(F8):c.6485C>T (p.Pro2162Leu)
|
|
|
NM_000132.4(F8):c.6967C>G (p.Arg2323Gly)
|
rs137852473
|
|
NM_000132.4(F8):c.842C>T (p.Thr281Ile)
|
|
|
NM_000132.4(F8):c.877C>G (p.His293Asp)
|
rs1569559881
|
|
NM_000132.4(F8):c.881C>G (p.Thr294Arg)
|
|
|
NM_000133.4(F9):c.1229A>T (p.Asp410Val)
|
rs1928125452
|
|
NM_000133.4(F9):c.1289G>A (p.Ser430Asn)
|
rs1569333062
|
|
NM_000133.4(F9):c.161A>T (p.Glu54Val)
|
rs1569481966
|
|
NM_000133.4(F9):c.205T>A (p.Cys69Ser)
|
rs2148356172
|
|
NM_000133.4(F9):c.235G>A (p.Glu79Lys)
|
rs1927499978
|
|
NM_000133.4(F9):c.786T>G (p.Ile262Met)
|
rs2148367254
|
|
NM_000138.5(FBN1):c.1721A>G (p.Asp574Gly)
|
rs1566914907
|
|
NM_000138.5(FBN1):c.1868G>T (p.Cys623Phe)
|
rs1566914030
|
|
NM_000138.5(FBN1):c.198C>A (p.Tyr66Ter)
|
rs2044669179
|
|
NM_000138.5(FBN1):c.200G>T (p.Cys67Phe)
|
rs2044669166
|
|
NM_000138.5(FBN1):c.2293G>A (p.Asp765Asn)
|
rs2043615915
|
|
NM_000138.5(FBN1):c.3533A>G (p.Tyr1178Cys)
|
rs1555398515
|
|
NM_000138.5(FBN1):c.387C>G (p.Cys129Trp)
|
rs1566935514
|
|
NM_000138.5(FBN1):c.4467T>A (p.Asn1489Lys)
|
rs193922205
|
|
NM_000138.5(FBN1):c.4576T>C (p.Cys1526Arg)
|
|
|
NM_000138.5(FBN1):c.5009A>G (p.Tyr1670Cys)
|
rs1566903532
|
|
NM_000138.5(FBN1):c.5296+2T>G
|
|
|
NM_000138.5(FBN1):c.5872T>A (p.Cys1958Ser)
|
rs2141249174
|
|
NM_000138.5(FBN1):c.6185A>G (p.Tyr2062Cys)
|
rs1555395266
|
|
NM_000138.5(FBN1):c.7217G>T (p.Cys2406Phe)
|
rs1131691479
|
|
NM_000138.5(FBN1):c.7383C>G (p.Asn2461Lys)
|
rs754047254
|
|
NM_000138.5(FBN1):c.7787A>G (p.Tyr2596Cys)
|
rs1566891404
|
|
NM_000138.5(FBN1):c.7865G>C (p.Cys2622Ser)
|
rs1555393880
|
|
NM_000138.5(FBN1):c.7982A>G (p.Tyr2661Cys)
|
rs112196241
|
|
NM_000138.5(FBN1):c.8226+5G>A
|
rs193922243
|
|
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup)
|
rs367543046
|
|
NM_000155.4(GALT):c.776G>A (p.Arg259Gln)
|
rs886042070
|
|
NM_000156.6(GAMT):c.503A>C (p.Tyr168Ser)
|
rs1131691644
|
|
NM_000157.4(GBA1):c.17_18del (p.Pro6fs)
|
|
|
NM_000162.5(GCK):c.386G>A (p.Cys129Tyr)
|
rs2128822108
|
|
NM_000162.5(GCK):c.766G>C (p.Glu256Gln)
|
rs769268803
|
|
NM_000162.5(GCK):c.852dup (p.Gly285fs)
|
|
|
NM_000179.3(MSH6):c.2230dup (p.Glu744fs)
|
rs786201050
|
|
NM_000179.3(MSH6):c.3725G>A (p.Arg1242His)
|
rs63750119
|
|
NM_000193.4(SHH):c.1085C>T (p.Ser362Leu)
|
rs866005910
|
|
NM_000208.4(INSR):c.3164C>T (p.Ala1055Val)
|
rs1599874183
|
|
NM_000238.4(KCNH2):c.1128G>A (p.Gln376=)
|
rs770047651
|
|
NM_000238.4(KCNH2):c.1873G>C (p.Val625Leu)
|
rs1563156725
|
|
NM_000238.4(KCNH2):c.2510A>G (p.Asp837Gly)
|
rs199473004
|
|
NM_000249.4(MLH1):c.1688_1689del (p.Ile563fs)
|
rs863225376
|
|
NM_000251.3(MSH2):c.1077-2A>G
|
rs267607943
|
|
NM_000256.3(MYBPC3):c.709T>C (p.Tyr237His)
|
rs730880624
|
|
NM_000257.4(MYH7):c.732+1G>C
|
rs730880850
|
|
NM_000282.4(PCCA):c.2129_2130del (p.Val710fs)
|
rs1317003529
|
|
NM_000297.4(PKD2):c.2208_2213del (p.Leu736_Asn737del)
|
rs778896252
|
|
NM_000298.6(PKLR):c.-72A>G
|
rs1324044951
|
|
NM_000298.6(PKLR):c.1180G>A (p.Ala394Thr)
|
rs1647353051
|
|
NM_000298.6(PKLR):c.993C>A (p.Asp331Glu)
|
rs138476691
|
|
NM_000326.5(RLBP1):c.700C>T (p.Arg234Trp)
|
rs28933990
|
|
NM_000342.3(SLC4A1):c.2279G>A (p.Arg760Gln)
|
rs121912755
|
|
NM_000342.3(SLC4A1):c.2608C>T (p.Arg870Trp)
|
rs28931585
|
|
NM_000342.4(SLC4A1):c.2278C>T (p.Arg760Trp)
|
rs373916826
|
|
NM_000342.4(SLC4A1):c.2422C>T (p.Arg808Cys)
|
rs1167814744
|
|
NM_000342.4(SLC4A1):c.799del (p.Val267fs)
|
rs2144616948
|
|
NM_000346.4(SOX9):c.429G>T (p.Trp143Cys)
|
rs1567910317
|
|
NM_000355.4(TCN2):c.562C>T (p.Gln188Ter)
|
rs1456983114
|
|
NM_000371.4(TTR):c.128G>A (p.Ser43Asn)
|
rs1598844112
|
|
NM_000371.4(TTR):c.265T>C (p.Tyr89His)
|
rs121918100
|
|
NM_000371.4(TTR):c.325G>A (p.Glu109Lys)
|
rs121918082
|
|
NM_000402.4(G6PD):c.1406G>C (p.Arg469Pro)
|
rs137852337
|
|
NM_000435.3(NOTCH3):c.1013G>T (p.Cys338Phe)
|
|
|
NM_000435.3(NOTCH3):c.1279C>T (p.Arg427Cys)
|
rs1599391536
|
|
NM_000435.3(NOTCH3):c.1345C>T (p.Arg449Cys)
|
rs762734007
|
|
NM_000435.3(NOTCH3):c.1531T>A (p.Cys511Ser)
|
|
|
NM_000435.3(NOTCH3):c.1565G>C (p.Cys522Ser)
|
|
|
NM_000435.3(NOTCH3):c.1816T>C (p.Cys606Arg)
|
rs1568359346
|
|
NM_000435.3(NOTCH3):c.194G>C (p.Cys65Ser)
|
rs1555730176
|
|
NM_000435.3(NOTCH3):c.239A>G (p.Asp80Gly)
|
rs1599395616
|
|
NM_000435.3(NOTCH3):c.245G>T (p.Cys82Phe)
|
rs1023306013
|
|
NM_000435.3(NOTCH3):c.2752G>T (p.Gly918Cys)
|
|
|
NM_000435.3(NOTCH3):c.2951T>G (p.Phe984Cys)
|
rs995523352
|
|
NM_000435.3(NOTCH3):c.3043T>C (p.Cys1015Arg)
|
rs1599382214
|
|
NM_000435.3(NOTCH3):c.3084G>C (p.Trp1028Cys)
|
rs2046832726
|
|
NM_000435.3(NOTCH3):c.719G>A (p.Cys240Tyr)
|
rs1599394351
|
|
NM_000435.3(NOTCH3):c.895A>T (p.Ser299Cys)
|
rs2046926886
|
|
NM_000463.3(UGT1A1):c.1084+1G>T
|
rs587784535
|
|
NM_000463.3(UGT1A1):c.686C>T (p.Pro229Leu)
|
rs35350960
|
|
NM_000463.3(UGT1A1):c.996+1G>A
|
rs2126030587
|
|
NM_000466.3(PEX1):c.1108del (p.Ile370fs)
|
rs61750406
|
|
NM_000478.6(ALPL):c.1010A>G (p.Asp337Gly)
|
rs1219494274
|
|
NM_000478.6(ALPL):c.1417G>A (p.Gly473Ser)
|
rs1644755212
|
|
NM_000478.6(ALPL):c.871G>A (p.Glu291Lys)
|
rs786204473
|
|
NM_000492.4(CFTR):c.1700A>C (p.Asp567Ala)
|
rs1562907186
|
|
NM_000492.4(CFTR):c.253G>C (p.Gly85Arg)
|
|
|
NM_000492.4(CFTR):c.346G>A (p.Glu116Lys)
|
rs397508571
|
|
NM_000492.4(CFTR):c.929TCT[2] (p.Phe312del)
|
rs121908768
|
|
NM_000517.6(HBA2):c.242T>G (p.Leu81Arg)
|
rs281864863
|
|
NM_000517.6(HBA2):c.283G>T (p.Asp95Tyr)
|
rs281864878
|
|
NM_000517.6(HBA2):c.300+1G>A
|
|
|
NM_000517.6(HBA2):c.314G>A (p.Cys105Tyr)
|
rs41417548
|
|
NM_000517.6(HBA2):c.91_93del (p.Glu31del)
|
rs281864560
|
|
NM_000518.4(HBB):c.137T>C (p.Phe46Ser)
|
rs33978338
|
|
NM_000518.4(HBB):c.191A>G (p.His64Arg)
|
rs33985544
|
|
NM_000518.4(HBB):c.98T>A (p.Leu33Gln)
|
rs33948578
|
|
NM_000518.5(HBB):c.*110_*111del
|
rs63750205
|
|
NM_000518.5(HBB):c.19GAG[1] (p.Glu8del)
|
rs63750928
|
|
NM_000518.5(HBB):c.200A>C (p.Lys67Thr)
|
rs35939489
|
|
NM_000518.5(HBB):c.249G>C (p.Lys83Asn)
|
rs33991993
|
|
NM_000518.5(HBB):c.380T>G (p.Val127Gly)
|
rs33925391
|
|
NM_000518.5(HBB):c.51C>T (p.Gly17=)
|
rs370075492
|
|
NM_000518.5(HBB):c.92G>A (p.Arg31Lys)
|
rs33960103
|
|
NM_000518.5(HBB):c.93-3T>G
|
rs34527846
|
|
NM_000527.5(LDLR):c.1201C>T (p.Leu401Phe)
|
|
|
NM_000527.5(LDLR):c.1999T>C (p.Cys667Arg)
|
|
|
NM_000527.5(LDLR):c.2096C>T (p.Pro699Leu)
|
|
|
NM_000527.5(LDLR):c.2476C>A (p.Pro826Thr)
|
rs879255217
|
|
NM_000530.8(MPZ):c.646-2A>G
|
rs1670228122
|
|
NM_000540.3(RYR1):c.13949T>C (p.Leu4650Pro)
|
rs118192138
|
|
NM_000540.3(RYR1):c.38T>G (p.Leu13Arg)
|
rs193922744
|
|
NM_000540.3(RYR1):c.424+2T>C
|
rs775192689
|
|
NM_000548.5(TSC2):c.1283_1285del (p.Ser428del)
|
rs137853983
|
|
NM_000548.5(TSC2):c.2087G>T (p.Cys696Phe)
|
rs45486196
|
|
NM_000548.5(TSC2):c.3648del (p.Ser1217fs)
|
|
|
NM_000548.5(TSC2):c.3786dup (p.Pro1263fs)
|
rs2090170656
|
|
NM_000548.5(TSC2):c.3814+1G>C
|
rs397514902
|
|
NM_000548.5(TSC2):c.5141A>G (p.Gln1714Arg)
|
|
|
NM_000548.5(TSC2):c.5266del (p.Glu1756fs)
|
rs878854118
|
|
NM_000552.5(VWF):c.115G>A (p.Gly39Arg)
|
|
|
NM_000552.5(VWF):c.1179dup (p.Ser394fs)
|
|
|
NM_000552.5(VWF):c.1231C>T (p.Gln411Ter)
|
|
|
NM_000552.5(VWF):c.2646dup (p.Tyr883fs)
|
|
|
NM_000552.5(VWF):c.3735dup (p.Pro1246fs)
|
rs2136413939
|
|
NM_000552.5(VWF):c.3940G>T (p.Val1314Phe)
|
rs61749393
|
|
NM_000552.5(VWF):c.4105T>A (p.Phe1369Ile)
|
rs61750069
|
|
NM_000552.5(VWF):c.4508T>A (p.Leu1503Gln)
|
rs61750097
|
|
NM_000552.5(VWF):c.7730-2del
|
|
|
NM_000558.3(HBA1):c.134C>T (p.Pro45Leu)
|
rs33978134
|
|
NM_000558.5(HBA1):c.332C>A (p.Ala111Asp)
|
rs63749948
|
|
NM_000558.5(HBA1):c.62_63insT (p.Ala22fs)
|
|
|
NM_000719.7(CACNA1C):c.2573G>A (p.Arg858His)
|
rs786205753
|
|
NM_000891.3(KCNJ2):c.637C>G (p.Arg213Gly)
|
rs764523123
|
|
NM_001009944.3(PKD1):c.1141G>A (p.Gly381Ser)
|
rs1303102528
|
|
NM_001009944.3(PKD1):c.12592_12619del (p.Ser4198fs)
|
rs1567144266
|
|
NM_001009944.3(PKD1):c.12691C>T (p.Gln4231Ter)
|
rs755496450
|
|
NM_001009944.3(PKD1):c.12724C>T (p.Gln4242Ter)
|
rs1181168635
|
|
NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro)
|
rs1616940
|
|
NM_001009944.3(PKD1):c.3145_3156del (p.Val1049_Ala1052del)
|
rs1567206560
|
|
NM_001009944.3(PKD1):c.3716ACA[1] (p.Asn1240del)
|
rs1567202750
|
|
NM_001009944.3(PKD1):c.7108T>C (p.Cys2370Arg)
|
rs1567187445
|
|
NM_001009944.3(PKD1):c.7109G>C (p.Cys2370Ser)
|
rs1567187434
|
|
NM_001009944.3(PKD1):c.7268C>T (p.Ser2423Phe)
|
rs1555453207
|
|
NM_001032386.2(SUOX):c.842_843del (p.Leu281fs)
|
rs748900391
|
|
NM_001040142.2(SCN2A):c.3399+1G>A
|
rs1700091133
|
|
NM_001042492.3(NF1):c.1442del (p.Pro481fs)
|
|
|
NM_001042492.3(NF1):c.1506dup (p.Asp503fs)
|
|
|
NM_001042492.3(NF1):c.1748A>G (p.Lys583Arg)
|
rs199474760
|
|
NM_001042492.3(NF1):c.4236A>T (p.Arg1412Ser)
|
rs137854554
|
|
NM_001042492.3(NF1):c.4880T>A (p.Val1627Asp)
|
rs1567611231
|
|
NM_001042492.3(NF1):c.5030TCTATA[1] (p.Ile1679_Tyr1680del)
|
rs1135402868
|
|
NM_001042492.3(NF1):c.5170C>T (p.Gln1724Ter)
|
|
|
NM_001042492.3(NF1):c.5269-1G>C
|
rs876660141
|
|
NM_001042492.3(NF1):c.5488C>G (p.Arg1830Gly)
|
rs797045139
|
|
NM_001065.4(TNFRSF1A):c.123T>G (p.Asp41Glu)
|
rs104895271
|
|
NM_001110792.2(MECP2):c.1233dup (p.Thr412fs)
|
rs267608612
|
|
NM_001110792.2(MECP2):c.940C>T (p.Pro314Ser)
|
rs61751373
|
|
NM_001127222.2(CACNA1A):c.4072C>T (p.Arg1358Trp)
|
rs1555745461
|
|
NM_001130021.3(ATP6V0A1):c.2381A>T (p.Glu794Val)
|
|
|
NM_001142864.4(PIEZO1):c.1792G>A (p.Val598Met)
|
rs2142820621
|
|
NM_001142864.4(PIEZO1):c.6328C>T (p.Arg2110Trp)
|
|
|
NM_001151.4(SLC25A4):c.256_263del (p.Ala86fs)
|
rs1734410152
|
|
NM_001204.7(BMPR2):c.12del (p.Leu5fs)
|
rs1690174710
|
|
NM_001204.7(BMPR2):c.1487G>A (p.Cys496Tyr)
|
rs1085307362
|
|
NM_001204.7(BMPR2):c.2797A>T (p.Arg933Ter)
|
rs766741057
|
|
NM_001204.7(BMPR2):c.353G>A (p.Cys118Tyr)
|
rs1085307216
|
|
NM_001243133.2(NLRP3):c.1307C>T (p.Thr436Ile)
|
rs180177433
|
|
NM_001243133.2(NLRP3):c.902G>A (p.Gly301Asp)
|
rs180177441
|
|
NM_001267550.2(TTN):c.11709T>A (p.Cys3903Ter)
|
rs2082478614
|
|
NM_001267550.2(TTN):c.68149del (p.Arg22717fs)
|
rs2047058557
|
|
NM_001267550.2(TTN):c.82208C>G (p.Ser27403Ter)
|
rs1704654934
|
|
NM_001267550.2(TTN):c.91784_91789del (p.Gly30595_Tyr30597delinsAsp)
|
|
|
NM_001267550.2(TTN):c.97040_97041del (p.Leu32347fs)
|
rs2154142938
|
|
NM_001360.3(DHCR7):c.296T>C (p.Leu99Pro)
|
rs104886041
|
|
NM_001360016.2(G6PD):c.412T>G (p.Phe138Val)
|
|
|
NM_001364905.1(LRBA):c.4801C>T (p.Arg1601Ter)
|
rs1484948342
|
|
NM_001370259.2(MEN1):c.124G>A (p.Gly42Ser)
|
rs1942013583
|
|
NM_001370259.2(MEN1):c.125G>T (p.Gly42Val)
|
rs1565652689
|
|
NM_001370259.2(MEN1):c.1262G>A (p.Cys421Tyr)
|
rs386134249
|
|
NM_001370259.2(MEN1):c.1351-3_1359del
|
rs2136094253
|
|
NM_001370259.2(MEN1):c.1609del (p.Val537fs)
|
rs2136083128
|
|
NM_001370259.2(MEN1):c.1614dup (p.Ala539fs)
|
|
|
NM_001370259.2(MEN1):c.722G>A (p.Cys241Tyr)
|
rs794728624
|
|
NM_001370466.1(NOD2):c.920G>T (p.Arg307Leu)
|
|
|
NM_001377.3(DYNC2H1):c.6614G>A (p.Arg2205His)
|
rs137853031
|
|
NM_001378452.1(ITPR1):c.829A>G (p.Ser277Gly)
|
rs1559603629
|
|
NM_001540.5(HSPB1):c.416C>T (p.Thr139Met)
|
rs1064795077
|
|
NM_001605.3(AARS1):c.14dup (p.Thr6fs)
|
|
|
NM_001613.4(ACTA2):c.115C>G (p.Arg39Gly)
|
rs112901682
|
|
NM_001844.5(COL2A1):c.1025G>T (p.Gly342Val)
|
|
|
NM_001844.5(COL2A1):c.1169G>T (p.Gly390Val)
|
rs2136579397
|
|
NM_001844.5(COL2A1):c.1331G>T (p.Gly444Val)
|
rs1939463507
|
|
NM_001844.5(COL2A1):c.1358G>A (p.Gly453Asp)
|
rs794727339
|
|
NM_001844.5(COL2A1):c.1717G>A (p.Gly573Ser)
|
rs886042741
|
|
NM_001844.5(COL2A1):c.2095-1G>A
|
|
|
NM_001844.5(COL2A1):c.2419G>A (p.Gly807Arg)
|
rs2136542141
|
|
NM_001844.5(COL2A1):c.2690G>T (p.Gly897Val)
|
rs1281743095
|
|
NM_001844.5(COL2A1):c.2752G>C (p.Gly918Arg)
|
rs1565672299
|
|
NM_001844.5(COL2A1):c.3230G>T (p.Gly1077Val)
|
rs786205477
|
|
NM_001844.5(COL2A1):c.3446G>A (p.Gly1149Glu)
|
rs1938718512
|
|
NM_001844.5(COL2A1):c.3464G>A (p.Gly1155Asp)
|
rs1938716355
|
|
NM_001853.4(COL9A3):c.1729C>T (p.Arg577Ter)
|
rs1201247953
|
|
NM_002439.5(MSH3):c.2686G>T (p.Gly896Ter)
|
rs777054839
|
|
NM_002473.6(MYH9):c.5521G>A (p.Glu1841Lys)
|
rs80338834
|
|
NM_002474.3(MYH11):c.3858+1G>A
|
rs2151225126
|
|
NM_002769.5(PRSS1):c.416G>T (p.Cys139Phe)
|
rs768853338
|
|
NM_002834.5(PTPN11):c.173_175del (p.Asn58del)
|
|
|
NM_002880.4(RAF1):c.766A>G (p.Arg256Gly)
|
rs397516825
|
|
NM_002880.4(RAF1):c.769T>A (p.Ser257Thr)
|
rs727505017
|
|
NM_002890.3(RASA1):c.2691-1G>T
|
|
|
NM_003000.3(SDHB):c.590C>G (p.Pro197Arg)
|
rs74315367
|
|
NM_003001.5(SDHC):c.439C>T (p.Gln147Ter)
|
rs1571898957
|
|
NM_003002.4(SDHD):c.340T>G (p.Tyr114Asp)
|
rs876659276
|
|
NM_004004.6(GJB2):c.56G>C (p.Ser19Thr)
|
rs80338941
|
|
NM_004006.3(DMD):c.170T>G (p.Leu57Arg)
|
rs886044431
|
|
NM_004006.3(DMD):c.44del (p.Asp15fs)
|
rs2093886453
|
|
NM_004006.3(DMD):c.5922+1G>T
|
rs1603631219
|
|
NM_004333.6(BRAF):c.1391G>T (p.Gly464Val)
|
rs121913348
|
|
NM_004415.4(DSP):c.5680_5683del (p.Ser1894fs)
|
rs774763657
|
|
NM_004415.4(DSP):c.7563_7566del (p.Asp2521fs)
|
rs1320456072
|
|
NM_004444.5(EPHB4):c.1848_1849delinsT (p.Lys616fs)
|
rs2116432568
|
|
NM_004586.3(RPS6KA3):c.356G>C (p.Arg119Pro)
|
rs1057517947
|
|
NM_004999.4(MYO6):c.2544_2545del (p.Arg849fs)
|
rs2149358928
|
|
NM_005251.3(FOXC2):c.361C>T (p.Arg121Cys)
|
rs1567571184
|
|
NM_005422.4(TECTA):c.5668C>T (p.Arg1890Cys)
|
rs121909063
|
|
NM_006087.4(TUBB4A):c.1178C>T (p.Ala393Val)
|
rs1914085591
|
|
NM_006329.4(FBLN5):c.1117C>T (p.Arg373Cys)
|
rs864309526
|
|
NM_007194.4(CHEK2):c.846+4_846+7del
|
rs764884641
|
|
NM_007294.4(BRCA1):c.5207T>C (p.Val1736Ala)
|
rs45553935
|
|
NM_007294.4(BRCA1):c.5510_5511delinsCT (p.Trp1837Ser)
|
rs2152547868
|
|
NM_015335.5(MED13L):c.4338+5G>A
|
rs1877682848
|
|
NM_018082.6(POLR3B):c.2900dup (p.Ser967fs)
|
|
|
NM_020433.5(JPH2):c.424G>T (p.Gly142Ter)
|
rs765874503
|
|
NM_020975.6(RET):c.2711C>T (p.Ser904Phe)
|
rs267607011
|
|
NM_021625.5(TRPV4):c.1412_1414del (p.Phe471del)
|
rs515726154
|
|
NM_021939.4(FKBP10):c.392-2A>G
|
rs1555616334
|
|
NM_022124.6(CDH23):c.1087del (p.Val363fs)
|
rs747955135
|
|
NM_023110.3(FGFR1):c.1898_1899del (p.Glu633fs)
|
rs1815805060
|
|
NM_025132.4(WDR19):c.1778-1G>A
|
rs1730515128
|
|
NM_032415.7(CARD11):c.224G>A (p.Arg75Gln)
|
rs1064795280
|
|
NM_033380.3(COL4A5):c.2696G>A (p.Gly899Asp)
|
rs281874702
|
|
NM_033380.3(COL4A5):c.3257G>T (p.Gly1086Val)
|
rs104886232
|
|
NM_033380.3(COL4A5):c.902G>A (p.Gly301Asp)
|
rs1569491075
|
|
NM_053274.3(GLMN):c.1720C>T (p.Arg574Ter)
|
rs751408583
|
|
NM_144997.7(FLCN):c.33C>G (p.Cys11Trp)
|
rs754616167
|
|
NM_172107.4(KCNQ2):c.992A>C (p.Lys331Thr)
|
rs1568925523
|
|
NM_182961.4(SYNE1):c.994A>T (p.Arg332Ter)
|
rs1564400585
|
|