NM_000500.7(CYP21A2):c.955C>T (p.Gln319Ter)
|
rs7755898
|
0.00339
|
NM_000155.4(GALT):c.563A>G (p.Gln188Arg)
|
rs75391579
|
0.00192
|
NM_000066.4(C8B):c.1282C>T (p.Arg428Ter)
|
rs41286844
|
0.00118
|
NM_000155.4(GALT):c.404C>T (p.Ser135Leu)
|
rs111033690
|
0.00094
|
NM_022787.4(NMNAT1):c.769G>A (p.Glu257Lys)
|
rs150726175
|
0.00087
|
NM_004004.6(GJB2):c.-22-2A>C
|
rs201895089
|
0.00056
|
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys)
|
rs1801175
|
0.00034
|
NM_000277.3(PAH):c.898G>T (p.Ala300Ser)
|
rs5030853
|
0.00034
|
NM_000277.3(PAH):c.688G>A (p.Val230Ile)
|
rs62516152
|
0.00029
|
NM_000277.3(PAH):c.1066-11G>A
|
rs5030855
|
0.00028
|
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe)
|
rs5030868
|
0.00028
|
NM_000518.5(HBB):c.118C>T (p.Gln40Ter)
|
rs11549407
|
0.00026
|
NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln)
|
rs121912707
|
0.00024
|
NM_000157.4(GBA1):c.1342G>C (p.Asp448His)
|
rs1064651
|
0.00020
|
NM_000277.3(PAH):c.506G>A (p.Arg169His)
|
rs199475679
|
0.00020
|
NM_000159.4(GCDH):c.877G>A (p.Ala293Thr)
|
rs121434371
|
0.00011
|
NM_001370658.1(BTD):c.1429C>T (p.Pro477Ser)
|
rs138818907
|
0.00011
|
NM_004826.4(ECEL1):c.1470G>A (p.Trp490Ter)
|
rs149459910
|
0.00011
|
NM_000263.4(NAGLU):c.889C>T (p.Arg297Ter)
|
rs104894592
|
0.00010
|
NM_001182.5(ALDH7A1):c.328C>T (p.Arg110Ter)
|
rs121912708
|
0.00010
|
NM_001370658.1(BTD):c.1535C>T (p.Thr512Met)
|
rs104893688
|
0.00010
|
NM_006493.4(CLN5):c.448C>T (p.Arg150Ter)
|
rs546989392
|
0.00010
|
NM_000254.3(MTR):c.3518C>T (p.Pro1173Leu)
|
rs121913578
|
0.00009
|
NM_000017.4(ACADS):c.136C>T (p.Arg46Trp)
|
rs121908003
|
0.00008
|
NM_000441.2(SLC26A4):c.1334T>G (p.Leu445Trp)
|
rs111033307
|
0.00008
|
NM_015202.5(KATNIP):c.49C>T (p.Arg17Ter)
|
rs142375551
|
0.00008
|
NM_019032.6(ADAMTSL4):c.2594G>A (p.Arg865His)
|
rs781691587
|
0.00007
|
NM_206937.2(LIG4):c.2440C>T (p.Arg814Ter)
|
rs104894419
|
0.00007
|
NM_000137.4(FAH):c.782C>T (p.Pro261Leu)
|
rs80338898
|
0.00006
|
NM_000183.3(HADHB):c.712C>T (p.Arg238Trp)
|
rs764006338
|
0.00006
|
NM_000372.5(TYR):c.230G>A (p.Arg77Gln)
|
rs61753185
|
0.00006
|
NM_000492.4(CFTR):c.2657+5G>A
|
rs80224560
|
0.00006
|
NM_004628.5(XPC):c.2251-1G>C
|
rs754673606
|
0.00006
|
NM_022464.5(SIL1):c.1030-9G>A
|
rs370290043
|
0.00006
|
NM_138691.3(TMC1):c.100C>T (p.Arg34Ter)
|
rs121908073
|
0.00006
|
NM_152906.7(TANGO2):c.94C>T (p.Arg32Ter)
|
rs199801224
|
0.00006
|
NM_001077418.3(TMEM231):c.664G>A (p.Val222Ile)
|
rs397514753
|
0.00005
|
NM_000104.4(CYP1B1):c.1405C>T (p.Arg469Trp)
|
rs28936701
|
0.00004
|
NM_000159.4(GCDH):c.1063C>T (p.Arg355Cys)
|
rs781477694
|
0.00004
|
NM_000159.4(GCDH):c.1093G>A (p.Glu365Lys)
|
rs121434370
|
0.00004
|
NM_000191.3(HMGCL):c.122G>A (p.Arg41Gln)
|
rs121964997
|
0.00004
|
NM_000255.4(MMUT):c.278G>A (p.Arg93His)
|
rs121918251
|
0.00004
|
NM_001287.6(CLCN7):c.857G>A (p.Arg286Gln)
|
rs760956030
|
0.00004
|
NM_003742.4(ABCB11):c.3457C>T (p.Arg1153Cys)
|
rs72549395
|
0.00004
|
NM_014714.4(IFT140):c.1990G>A (p.Glu664Lys)
|
rs387907192
|
0.00004
|
NM_018249.6(CDK5RAP2):c.4672C>T (p.Arg1558Ter)
|
rs373278668
|
0.00004
|
NM_024876.4(COQ8B):c.532C>T (p.Arg178Trp)
|
rs398122978
|
0.00004
|
NM_058172.6(ANTXR2):c.1074del (p.Ala359fs)
|
rs312262693
|
0.00004
|
NM_000155.4(GALT):c.200G>A (p.Arg67His)
|
rs758430398
|
0.00003
|
NM_000159.4(GCDH):c.1144G>A (p.Ala382Thr)
|
rs567564095
|
0.00003
|
NM_000159.4(GCDH):c.769C>T (p.Arg257Trp)
|
rs766518430
|
0.00003
|
NM_000277.3(PAH):c.464G>A (p.Arg155His)
|
rs199475663
|
0.00003
|
NM_000277.3(PAH):c.890G>A (p.Arg297His)
|
rs62642939
|
0.00003
|
NM_000518.5(HBB):c.315+1G>A
|
rs33945777
|
0.00003
|
NM_001080467.3(MYO5B):c.946G>A (p.Gly316Arg)
|
rs753558336
|
0.00003
|
NM_001164508.2(NEB):c.21076C>T (p.Arg7026Ter)
|
rs769345284
|
0.00003
|
NM_001985.3(ETFB):c.274C>T (p.Pro92Ser)
|
rs758509148
|
0.00003
|
NM_003742.4(ABCB11):c.2296G>A (p.Gly766Arg)
|
rs763782349
|
0.00003
|
NM_019892.6(INPP5E):c.1304G>A (p.Arg435Gln)
|
rs121918129
|
0.00003
|
NM_152443.3(RDH12):c.139G>A (p.Ala47Thr)
|
rs761231974
|
0.00003
|
NM_201253.3(CRB1):c.2234C>T (p.Thr745Met)
|
rs28939720
|
0.00003
|
NM_201253.3(CRB1):c.3307G>A (p.Gly1103Arg)
|
rs62636275
|
0.00003
|
NM_000071.3(CBS):c.1006C>T (p.Arg336Cys)
|
rs398123151
|
0.00002
|
NM_000137.4(FAH):c.709C>T (p.Arg237Ter)
|
rs769550316
|
0.00002
|
NM_000153.4(GALC):c.857G>A (p.Gly286Asp)
|
rs199847983
|
0.00002
|
NM_000159.4(GCDH):c.937C>T (p.Arg313Trp)
|
rs779315456
|
0.00002
|
NM_000443.4(ABCB4):c.526C>T (p.Arg176Trp)
|
rs754287486
|
0.00002
|
NM_000448.3(RAG1):c.2210G>A (p.Arg737His)
|
rs104894286
|
0.00002
|
NM_000512.5(GALNS):c.860C>T (p.Ser287Leu)
|
rs770053354
|
0.00002
|
NM_000520.6(HEXA):c.1511G>A (p.Arg504His)
|
rs121907955
|
0.00002
|
NM_001163435.3(TBCK):c.1897+1G>A
|
rs374319146
|
0.00002
|
NM_001378615.1(CC2D2A):c.3850C>T (p.Arg1284Cys)
|
rs779823379
|
0.00002
|
NM_001384140.1(PCDH15):c.3316C>T (p.Arg1106Ter)
|
rs202033121
|
0.00002
|
NM_002529.4(NTRK1):c.1960C>T (p.Arg654Cys)
|
rs764992664
|
0.00002
|
NM_002863.5(PYGL):c.1768+1G>A
|
rs113993982
|
0.00002
|
NM_003742.4(ABCB11):c.3691C>T (p.Arg1231Trp)
|
rs766285158
|
0.00002
|
NM_004646.4(NPHS1):c.3325C>T (p.Arg1109Ter)
|
rs137853042
|
0.00002
|
NM_012233.3(RAB3GAP1):c.899+1G>A
|
rs587777152
|
0.00002
|
NM_016630.7(SPG21):c.141A>G (p.Ile47Met)
|
rs776641719
|
0.00002
|
NM_024809.5(TCTN2):c.1506-2A>G
|
rs374349989
|
0.00002
|
NM_032861.4(SERAC1):c.202C>T (p.Arg68Ter)
|
rs529232938
|
0.00002
|
NM_032861.4(SERAC1):c.442C>T (p.Arg148Ter)
|
rs387907236
|
0.00002
|
NM_139315.3(TAF6):c.212T>C (p.Ile71Thr)
|
rs374993554
|
0.00002
|
NM_183235.3(RAB27A):c.244C>T (p.Arg82Cys)
|
rs753966933
|
0.00002
|
NM_198428.3(BBS9):c.223C>T (p.Arg75Ter)
|
rs775081992
|
0.00002
|
NM_000023.4(SGCA):c.101G>A (p.Arg34His)
|
rs371675217
|
0.00001
|
NM_000155.4(GALT):c.691C>T (p.Arg231Cys)
|
rs111033749
|
0.00001
|
NM_000159.4(GCDH):c.482G>A (p.Arg161Gln)
|
rs777201305
|
0.00001
|
NM_000159.4(GCDH):c.914C>T (p.Ser305Leu)
|
rs1260580183
|
0.00001
|
NM_000215.4(JAK3):c.307C>T (p.Arg103Cys)
|
rs761583890
|
0.00001
|
NM_000215.4(JAK3):c.308G>A (p.Arg103His)
|
rs774202259
|
0.00001
|
NM_000235.4(LIPA):c.260G>T (p.Gly87Val)
|
rs587778878
|
0.00001
|
NM_000270.4(PNP):c.265G>A (p.Glu89Lys)
|
rs104894453
|
0.00001
|
NM_000277.3(PAH):c.441+5G>T
|
rs62507321
|
0.00001
|
NM_000277.3(PAH):c.781C>T (p.Arg261Ter)
|
rs5030850
|
0.00001
|
NM_000317.3(PTS):c.200C>T (p.Thr67Met)
|
rs370340361
|
0.00001
|
NM_000322.5(PRPH2):c.136C>T (p.Arg46Ter)
|
rs61755771
|
0.00001
|
NM_000340.2(SLC2A2):c.157C>T (p.Arg53Ter)
|
rs771477447
|
0.00001
|
NM_000402.4(G6PD):c.233T>C (p.Ile78Thr)
|
rs76645461
|
0.00001
|
NM_000414.4(HSD17B4):c.1516C>T (p.Arg506Cys)
|
rs766199971
|
0.00001
|
NM_000426.4(LAMA2):c.1303C>T (p.Arg435Ter)
|
rs773209126
|
0.00001
|
NM_000426.4(LAMA2):c.4348C>T (p.Arg1450Ter)
|
rs200923373
|
0.00001
|
NM_000466.3(PEX1):c.2614C>T (p.Arg872Ter)
|
rs61750422
|
0.00001
|
NM_000492.4(CFTR):c.1647T>G (p.Ser549Arg)
|
rs121909005
|
0.00001
|
NM_000518.5(HBB):c.92+5G>C
|
rs33915217
|
0.00001
|
NM_000525.4(KCNJ11):c.101G>A (p.Arg34His)
|
rs141145502
|
0.00001
|
NM_000552.5(VWF):c.4075G>A (p.Glu1359Lys)
|
rs61749407
|
0.00001
|
NM_001010892.3(RSPH4A):c.1558C>T (p.Arg520Ter)
|
rs767646489
|
0.00001
|
NM_001010892.3(RSPH4A):c.430C>T (p.Gln144Ter)
|
rs756868889
|
0.00001
|
NM_001023570.4(IQCB1):c.1558C>T (p.Gln520Ter)
|
rs779858591
|
0.00001
|
NM_001038.6(SCNN1A):c.875+1G>A
|
rs142439390
|
0.00001
|
NM_001130987.2(DYSF):c.4873C>T (p.Arg1625Ter)
|
rs398123789
|
0.00001
|
NM_001134831.2(AHI1):c.1828C>T (p.Arg610Ter)
|
rs751734985
|
0.00001
|
NM_001163809.2(WDR81):c.3997C>T (p.Arg1333Ter)
|
rs138358708
|
0.00001
|
NM_001163809.2(WDR81):c.5335C>T (p.Arg1779Ter)
|
rs762607878
|
0.00001
|
NM_001368809.2(AMPD2):c.1859G>A (p.Arg620His)
|
rs587777395
|
0.00001
|
NM_001371596.2(MFSD8):c.103C>T (p.Arg35Ter)
|
rs749315686
|
0.00001
|
NM_001382.4(DPAGT1):c.902G>A (p.Arg301His)
|
rs768416381
|
0.00001
|
NM_001388308.1(KIF12):c.877C>T (p.Arg293Ter)
|
rs1391374865
|
0.00001
|
NM_002180.3(IGHMBP2):c.958C>T (p.Arg320Ter)
|
rs773690764
|
0.00001
|
NM_002242.4(KCNJ13):c.359T>C (p.Ile120Thr)
|
rs786205550
|
0.00001
|
NM_002437.5(MPV17):c.122G>A (p.Arg41Gln)
|
rs140992482
|
0.00001
|
NM_002470.4(MYH3):c.2170C>T (p.Arg724Ter)
|
rs763239874
|
0.00001
|
NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met)
|
rs121918457
|
0.00001
|
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp)
|
rs28933386
|
0.00001
|
NM_003060.4(SLC22A5):c.1340A>G (p.Tyr447Cys)
|
rs386134218
|
0.00001
|
NM_003560.4(PLA2G6):c.1933C>T (p.Arg645Ter)
|
rs1484455290
|
0.00001
|
NM_004092.4(ECHS1):c.88+5G>A
|
rs761464256
|
0.00001
|
NM_004357.5(CD151):c.493C>T (p.Arg165Ter)
|
rs759213580
|
0.00001
|
NM_004817.4(TJP2):c.1894C>T (p.Arg632Ter)
|
rs928915940
|
0.00001
|
NM_005989.4(AKR1D1):c.148C>T (p.Arg50Ter)
|
rs749224036
|
0.00001
|
NM_006017.3(PROM1):c.1142-1G>A
|
rs752619497
|
0.00001
|
NM_006623.4(PHGDH):c.1030C>T (p.Arg344Ter)
|
rs769256568
|
0.00001
|
NM_006949.4(STXBP2):c.1430C>T (p.Pro477Leu)
|
rs121918540
|
0.00001
|
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly)
|
rs267607048
|
0.00001
|
NM_012233.3(RAB3GAP1):c.1009C>T (p.Arg337Ter)
|
rs766629205
|
0.00001
|
NM_012233.3(RAB3GAP1):c.559C>T (p.Arg187Ter)
|
rs764260054
|
0.00001
|
NM_014425.5(INVS):c.1807C>T (p.Arg603Ter)
|
rs121964994
|
0.00001
|
NM_014625.4(NPHS2):c.385C>T (p.Gln129Ter)
|
rs755972674
|
0.00001
|
NM_014625.4(NPHS2):c.538G>A (p.Val180Met)
|
rs74315347
|
0.00001
|
NM_014780.5(CUL7):c.4318C>T (p.Arg1440Ter)
|
rs748555538
|
0.00001
|
NM_015102.5(NPHP4):c.2044C>T (p.Arg682Ter)
|
rs137852920
|
0.00001
|
NM_015506.3(MMACHC):c.394C>T (p.Arg132Ter)
|
rs121918241
|
0.00001
|
NM_018136.5(ASPM):c.6232C>T (p.Arg2078Ter)
|
rs199422168
|
0.00001
|
NM_018136.5(ASPM):c.8017C>T (p.Gln2673Ter)
|
rs587783275
|
0.00001
|
NM_020366.4(RPGRIP1):c.3565C>T (p.Arg1189Ter)
|
rs752175052
|
0.00001
|
NM_021222.3(PRUNE1):c.316G>A (p.Asp106Asn)
|
rs773618224
|
0.00001
|
NM_021942.6(TRAPPC11):c.2938G>A (p.Gly980Arg)
|
rs397509417
|
0.00001
|
NM_022787.4(NMNAT1):c.53A>G (p.Asn18Ser)
|
rs748902766
|
0.00001
|
NM_025000.4(DCAF17):c.387G>A (p.Trp129Ter)
|
rs1559264135
|
0.00001
|
NM_031307.4(PUS3):c.1303C>T (p.Arg435Ter)
|
rs774005569
|
0.00001
|
NM_052867.4(NALCN):c.2203C>T (p.Arg735Ter)
|
rs757674263
|
0.00001
|
NM_080424.4(SP110):c.1891C>T (p.Arg631Ter)
|
rs1011767398
|
0.00001
|
NM_144639.3(UROC1):c.855G>A (p.Trp285Ter)
|
rs781621925
|
0.00001
|
NM_152416.4(NDUFAF6):c.337C>T (p.Arg113Ter)
|
rs753873681
|
0.00001
|
NM_152564.5(VPS13B):c.3427C>T (p.Arg1143Ter)
|
rs386834080
|
0.00001
|
NM_152564.5(VPS13B):c.5011C>T (p.Arg1671Ter)
|
rs386834093
|
0.00001
|
NM_170707.4(LMNA):c.1579C>T (p.Arg527Cys)
|
rs57318642
|
0.00001
|
NM_172250.3(MMAA):c.586C>T (p.Arg196Ter)
|
rs1029096863
|
0.00001
|
NM_183050.4(BCKDHB):c.1A>T (p.Met1Leu)
|
rs1005542482
|
0.00001
|
NM_194248.3(OTOF):c.5375G>A (p.Arg1792His)
|
rs111033349
|
0.00001
|
NM_201548.5(CERKL):c.238+1G>A
|
rs1276597208
|
0.00001
|
NM_206933.4(USH2A):c.5776+1G>A
|
rs876657731
|
0.00001
|
NM_207352.4(CYP4V2):c.1348C>T (p.Gln450Ter)
|
rs199476204
|
0.00001
|
NM_000018.4(ACADVL):c.65C>A (p.Ser22Ter)
|
rs727503788
|
|
NM_000048.4(ASL):c.1060C>T (p.Gln354Ter)
|
rs367543005
|
|
NM_000048.4(ASL):c.556C>T (p.Arg186Trp)
|
rs111407265
|
|
NM_000051.4(ATM):c.381del (p.Thr127_Val128insTer)
|
rs587781831
|
|
NM_000051.4(ATM):c.6198+1G>A
|
rs778031266
|
|
NM_000051.4(ATM):c.8152-1G>A
|
rs1398616877
|
|
NM_000053.4(ATP7B):c.1924G>C (p.Asp642His)
|
rs72552285
|
|
NM_000053.4(ATP7B):c.2230T>C (p.Ser744Pro)
|
rs1593726081
|
|
NM_000053.4(ATP7B):c.4195del (p.Gln1399fs)
|
rs886041336
|
|
NM_000057.4(BLM):c.175_176del (p.Val59fs)
|
rs2151146787
|
|
NM_000059.4(BRCA2):c.7007G>A (p.Arg2336His)
|
rs28897743
|
|
NM_000061.3(BTK):c.763C>T (p.Arg255Ter)
|
rs128621193
|
|
NM_000061.3(BTK):c.82C>T (p.Arg28Cys)
|
rs1927168815
|
|
NM_000067.3(CA2):c.232+1G>A
|
rs573750741
|
|
NM_000070.3(CAPN3):c.801+1G>A
|
rs1459288402
|
|
NM_000074.3(CD40LG):c.347-2A>G
|
rs1569377237
|
|
NM_000101.4(CYBA):c.261C>A (p.Tyr87Ter)
|
rs779809359
|
|
NM_000102.4(CYP17A1):c.1039C>T (p.Arg347Cys)
|
rs104894149
|
|
NM_000103.4(CYP19A1):c.343C>T (p.Arg115Ter)
|
rs2141079375
|
|
NM_000108.5(DLD):c.1436A>T (p.Asp479Val)
|
rs397514649
|
|
NM_000129.4(F13A1):c.798+2T>C
|
rs1757581465
|
|
NM_000130.5(F5):c.2615del (p.Arg872fs)
|
rs2101819850
|
|
NM_000132.4(F8):c.233del (p.Phe78fs)
|
rs2124148911
|
|
NM_000132.4(F8):c.255dup (p.Pro86fs)
|
rs2124148856
|
|
NM_000132.4(F8):c.3266C>A (p.Ser1089Ter)
|
rs2073189135
|
|
NM_000132.4(F8):c.494del (p.Pro165fs)
|
rs2124140985
|
|
NM_000135.4(FANCA):c.964C>T (p.His322Tyr)
|
rs772768595
|
|
NM_000141.5(FGFR2):c.866A>C (p.Gln289Pro)
|
rs121918497
|
|
NM_000142.5(FGFR3):c.1138G>A (p.Gly380Arg)
|
rs28931614
|
|
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys)
|
rs121913482
|
|
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg)
|
rs4647924
|
|
NM_000147.5(FUCA1):c.1123del (p.Trp375fs)
|
|
|
NM_000152.5(GAA):c.1657C>T (p.Gln553Ter)
|
rs1221156663
|
|
NM_000156.6(GAMT):c.403G>C (p.Asp135His)
|
|
|
NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro)
|
rs421016
|
|
NM_000157.4(GBA1):c.820G>A (p.Glu274Lys)
|
|
|
NM_000159.4(GCDH):c.1208A>G (p.His403Arg)
|
|
|
NM_000159.4(GCDH):c.853-2A>G
|
rs1057517410
|
|
NM_000190.4(HMBS):c.826-2A>T
|
rs1946317952
|
|
NM_000195.5(HPS1):c.1395G>A (p.Trp465Ter)
|
rs786205464
|
|
NM_000199.5(SGSH):c.535G>A (p.Asp179Asn)
|
|
|
NM_000214.3(JAG1):c.496C>T (p.Gln166Ter)
|
|
|
NM_000215.4(JAK3):c.115dup (p.Gln39fs)
|
|
|
NM_000215.4(JAK3):c.678_679del (p.Cys227fs)
|
rs193922364
|
|
NM_000215.4(JAK3):c.913C>T (p.Gln305Ter)
|
rs786205517
|
|
NM_000237.3(LPL):c.1250G>A (p.Trp417Ter)
|
rs2128839600
|
|
NM_000252.3(MTM1):c.1261-10A>G
|
rs397518445
|
|
NM_000252.3(MTM1):c.679G>A (p.Val227Met)
|
rs587783850
|
|
NM_000255.4(MMUT):c.2200C>T (p.Gln734Ter)
|
rs879253852
|
|
NM_000260.4(MYO7A):c.397C>T (p.His133Tyr)
|
rs111033403
|
|
NM_000270.4(PNP):c.12-1G>C
|
rs2139335095
|
|
NM_000276.4(OCRL):c.2479C>T (p.Gln827Ter)
|
|
|
NM_000277.3(PAH):c.591G>C (p.Leu197Phe)
|
rs281865442
|
|
NM_000277.3(PAH):c.671T>C (p.Ile224Thr)
|
rs62507323
|
|
NM_000277.3(PAH):c.754C>T (p.Arg252Trp)
|
rs5030847
|
|
NM_000282.4(PCCA):c.425G>A (p.Gly142Asp)
|
rs796052019
|
|
NM_000294.3(PHKG2):c.130C>T (p.Arg44Ter)
|
rs137853590
|
|
NM_000297.4(PKD2):c.1837C>T (p.Gln613Ter)
|
rs2110127334
|
|
NM_000317.3(PTS):c.342C>G (p.Ile114Met)
|
rs17851590
|
|
NM_000321.3(RB1):c.1450_1451del (p.Met484fs)
|
rs1948522792
|
|
NM_000337.6(SGCD):c.97C>T (p.Arg33Ter)
|
rs778760498
|
|
NM_000343.4(SLC5A1):c.765C>G (p.Cys255Trp)
|
rs888909415
|
|
NM_000352.6(ABCC8):c.563A>G (p.Asn188Ser)
|
rs797045213
|
|
NM_000368.5(TSC1):c.271_272del (p.Ser91fs)
|
rs118203360
|
|
NM_000372.5(TYR):c.1322del (p.Ser441fs)
|
|
|
NM_000383.4(AIRE):c.1193del (p.Pro398fs)
|
rs1555872988
|
|
NM_000392.5(ABCC2):c.3403del (p.Val1135fs)
|
rs2038788369
|
|
NM_000414.4(HSD17B4):c.1545C>G (p.His515Gln)
|
|
|
NM_000426.4(LAMA2):c.4688G>A (p.Trp1563Ter)
|
rs2114593621
|
|
NM_000433.4(NCF2):c.229C>T (p.Arg77Ter)
|
|
|
NM_000433.4(NCF2):c.574C>T (p.Gln192Ter)
|
|
|
NM_000441.2(SLC26A4):c.1554G>A (p.Trp518Ter)
|
rs727503428
|
|
NM_000448.3(RAG1):c.555del (p.Lys186fs)
|
rs786205615
|
|
NM_000466.3(PEX1):c.3037C>T (p.Arg1013Cys)
|
rs1791439311
|
|
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)
|
rs113993960
|
|
NM_000492.4(CFTR):c.3293G>C (p.Trp1098Ser)
|
|
|
NM_000492.4(CFTR):c.3700A>G (p.Ile1234Val)
|
rs75389940
|
|
NM_000492.4(CFTR):c.3889dup (p.Ser1297fs)
|
rs121908808
|
|
NM_000492.4(CFTR):c.416A>T (p.His139Leu)
|
rs76371115
|
|
NM_000504.4(F10):c.513del (p.Cys172fs)
|
rs2138548669
|
|
NM_000508.5(FGA):c.2155del (p.Gln719fs)
|
rs2110806028
|
|
NM_000517.6(HBA2):c.210_211insT (p.Val71fs)
|
rs2142018005
|
|
NM_000527.5(LDLR):c.1731G>T (p.Trp577Cys)
|
rs875989928
|
|
NM_000527.5(LDLR):c.1783C>T (p.Arg595Trp)
|
|
|
NM_000536.4(RAG2):c.686G>C (p.Arg229Pro)
|
rs121917894
|
|
NM_000551.4(VHL):c.363del (p.Asp121fs)
|
rs2125128271
|
|
NM_000552.5(VWF):c.1110-1G>T
|
rs61754005
|
|
NM_000552.5(VWF):c.1730-1G>T
|
rs1591889534
|
|
NM_000552.5(VWF):c.1843dup (p.Cys615fs)
|
rs2136454246
|
|
NM_000552.5(VWF):c.3157dup (p.Gln1053fs)
|
rs2136420496
|
|
NM_000552.5(VWF):c.4413del (p.Asp1472fs)
|
rs1565831817
|
|
NM_000642.3(AGL):c.294-2A>T
|
rs1057516868
|
|
NM_000785.4(CYP27B1):c.1286G>C (p.Arg429Pro)
|
rs568165874
|
|
NM_000900.5(MGP):c.94+1G>A
|
rs111320759
|
|
NM_000925.4(PDHB):c.1A>G (p.Met1Val)
|
|
|
NM_001009944.3(PKD1):c.10219del (p.Ser3407fs)
|
rs2151728391
|
|
NM_001009944.3(PKD1):c.10358dup (p.Ser3454fs)
|
rs2151726623
|
|
NM_001009944.3(PKD1):c.6282G>A (p.Trp2094Ter)
|
rs2151788870
|
|
NM_001012759.3(CTU2):c.873G>A (p.Thr291=)
|
rs769481947
|
|
NM_001032221.6(STXBP1):c.1108C>T (p.Gln370Ter)
|
rs2131501460
|
|
NM_001040142.2(SCN2A):c.304C>T (p.Arg102Ter)
|
rs387906683
|
|
NM_001042424.3(NSD2):c.2518+1G>A
|
|
|
NM_001044385.3(TMEM237):c.869+1G>A
|
rs730882231
|
|
NM_001046.3(SLC12A2):c.2617-2A>G
|
|
|
NM_001048174.2(MUTYH):c.168C>A (p.Tyr56Ter)
|
rs1645371113
|
|
NM_001079.4(ZAP70):c.493del (p.His165fs)
|
|
|
NM_001079802.2(FKTN):c.78C>G (p.Tyr26Ter)
|
rs369797361
|
|
NM_001080508.3(TBX18):c.692_693insT (p.Glu233fs)
|
rs2127879625
|
|
NM_001082538.3(TCTN1):c.342-2A>G
|
rs730882221
|
|
NM_001083116.3(PRF1):c.880del (p.Gln294fs)
|
|
|
NM_001084.5(PLOD3):c.1354C>T (p.Arg452Ter)
|
|
|
NM_001085487.3(MYSM1):c.1168G>T (p.Glu390Ter)
|
rs1557518298
|
|
NM_001085487.3(MYSM1):c.412C>T (p.Arg138Ter)
|
|
|
NM_001098426.2(SMARCD2):c.1429C>T (p.Arg477Ter)
|
rs1567760022
|
|
NM_001100.4(ACTA1):c.593G>A (p.Arg198His)
|
|
|
NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys)
|
rs1555408401
|
|
NM_001101426.4(CRPPA):c.790-1G>C
|
rs2128422954
|
|
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys)
|
rs28934904
|
|
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met)
|
rs28934906
|
|
NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter)
|
rs61748421
|
|
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter)
|
rs61751362
|
|
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp)
|
rs61751444
|
|
NM_001111067.4(ACVR1):c.617G>A (p.Arg206His)
|
rs121912678
|
|
NM_001114753.3(ENG):c.1087T>G (p.Cys363Gly)
|
|
|
NM_001122630.2(CDKN1C):c.688C>T (p.Gln230Ter)
|
rs483352991
|
|
NM_001122659.3(EDNRB):c.292G>T (p.Glu98Ter)
|
|
|
NM_001134831.2(AHI1):c.1051C>T (p.Arg351Ter)
|
rs121434348
|
|
NM_001134831.2(AHI1):c.2037-1G>C
|
rs1784918128
|
|
NM_001134831.2(AHI1):c.2361G>A (p.Trp787Ter)
|
rs863225146
|
|
NM_001136035.4(TRMT1):c.1332_1333del (p.Tyr445fs)
|
rs1203487591
|
|
NM_001160372.4(TRAPPC9):c.2520dup (p.Glu841fs)
|
|
|
NM_001160372.4(TRAPPC9):c.3034C>T (p.Gln1012Ter)
|
rs786205595
|
|
NM_001163809.2(WDR81):c.3286C>T (p.Gln1096Ter)
|
rs770279237
|
|
NM_001164496.2(CFAP44):c.1387G>T (p.Glu463Ter)
|
rs866096259
|
|
NM_001164508.2(NEB):c.1015del (p.Ala339fs)
|
rs2150017687
|
|
NM_001164508.2(NEB):c.11806-1G>A
|
rs886041851
|
|
NM_001165963.4(SCN1A):c.1178delinsTTAC (p.Arg393delinsLeuThr)
|
|
|
NM_001171613.2(PREPL):c.71_72insCT (p.Glu25fs)
|
|
|
NM_001193315.2(VIPAS39):c.808C>T (p.Arg270Ter)
|
|
|
NM_001197104.2(KMT2A):c.3473G>A (p.Cys1158Tyr)
|
rs1131691503
|
|
NM_001197104.2(KMT2A):c.3790C>T (p.Arg1264Ter)
|
rs1555039343
|
|
NM_001199397.3(NEK1):c.1690_1691del (p.Met564fs)
|
rs786205645
|
|
NM_001199397.3(NEK1):c.1691T>N (p.Met564Xaa)
|
|
|
NM_001204077.2(UBE4A):c.384G>A (p.Trp128Ter)
|
rs2134089305
|
|
NM_001206999.2(CIT):c.1111+1G>A
|
rs879255522
|
|
NM_001267550.2(TTN):c.40238dup (p.Tyr13414fs)
|
rs2154244761
|
|
NM_001267550.2(TTN):c.92001G>A (p.Trp30667Ter)
|
|
|
NM_001271838.2(RSRC1):c.268C>T (p.Arg90Ter)
|
rs1183090232
|
|
NM_001278716.2(FBXL4):c.219T>A (p.Tyr73Ter)
|
rs747536886
|
|
NM_001282225.2(ADA2):c.1447_1451del (p.Ser483fs)
|
rs1601419986
|
|
NM_001282225.2(ADA2):c.882-2A>G
|
rs2062095528
|
|
NM_001282534.2(KCNK9):c.706G>A (p.Gly236Arg)
|
rs121908332
|
|
NM_001288705.3(CSF1R):c.1620T>A (p.Tyr540Ter)
|
rs1757862455
|
|
NM_001298.3(CNGA3):c.1573G>A (p.Gly525Ser)
|
rs786205532
|
|
NM_001322934.2(NFKB2):c.2557C>T (p.Arg853Ter)
|
rs397514332
|
|
NM_001330701.2(AGTPBP1):c.2752C>T (p.Arg918Trp)
|
rs1564035967
|
|
NM_001351132.2(PEX5):c.1578T>G (p.Asn526Lys)
|
rs61752138
|
|
NM_001353214.3(DYM):c.2025+1G>A
|
rs786205511
|
|
NM_001353214.3(DYM):c.610C>T (p.Arg204Ter)
|
|
|
NM_001365536.1(SCN9A):c.3536G>A (p.Trp1179Ter)
|
|
|
NM_001370298.3(FGD4):c.1740C>A (p.Tyr580Ter)
|
rs886041200
|
|
NM_001370658.1(BTD):c.406C>T (p.Gln136Ter)
|
rs397514362
|
|
NM_001371596.2(MFSD8):c.198+2T>C
|
rs2148943607
|
|
NM_001371596.2(MFSD8):c.863+1G>A
|
rs200319160
|
|
NM_001371623.1(TCOF1):c.1016C>G (p.Ser339Ter)
|
|
|
NM_001371623.1(TCOF1):c.2656C>T (p.Gln886Ter)
|
rs786205575
|
|
NM_001378454.1(ALMS1):c.11873-2A>T
|
rs786205527
|
|
NM_001378454.1(ALMS1):c.8779C>T (p.Arg2927Ter)
|
rs376244626
|
|
NM_001378615.1(CC2D2A):c.4437+1G>A
|
rs786205568
|
|
NM_001378778.1(MPDZ):c.628C>T (p.Gln210Ter)
|
rs372127610
|
|
NM_001379081.2(FREM1):c.2722G>N (p.Val908Xaa)
|
|
|
NM_001384125.1(BLTP1):c.11514-1G>A
|
rs2150047294
|
|
NM_001553.3(IGFBP7):c.830-1G>A
|
rs866994863
|
|
NM_001692.4(ATP6V1B1):c.1037C>G (p.Pro346Arg)
|
rs781838938
|
|
NM_001696.4(ATP6V1E1):c.634C>T (p.Arg212Trp)
|
rs1028534806
|
|
NM_001814.6(CTSC):c.815G>C (p.Arg272Pro)
|
rs587777534
|
|
NM_001943.5(DSG2):c.769C>T (p.Gln257Ter)
|
rs794728083
|
|
NM_001972.4(ELANE):c.640G>A (p.Gly214Arg)
|
rs137854451
|
|
NM_001987.5(ETV6):c.1254G>T (p.Arg418Ser)
|
|
|
NM_001994.3(F13B):c.565G>T (p.Gly189Ter)
|
rs2125071982
|
|
NM_002074.5(GNB1):c.229G>T (p.Gly77Cys)
|
rs758432471
|
|
NM_002076.4(GNS):c.732C>A (p.Tyr244Ter)
|
rs2136247574
|
|
NM_002187.3(IL12B):c.320dup (p.Glu108fs)
|
rs587776807
|
|
NM_002351.5(SH2D1A):c.23A>C (p.His8Pro)
|
|
|
NM_002354.3(EPCAM):c.412C>T (p.Arg138Ter)
|
rs397514661
|
|
NM_002354.3(EPCAM):c.499dup (p.Gln167fs)
|
rs606231204
|
|
NM_002437.5(MPV17):c.279+1G>T
|
rs1572543564
|
|
NM_002470.4(MYH3):c.2501T>C (p.Phe834Ser)
|
rs2142400070
|
|
NM_002474.3(MYH11):c.1033+1G>A
|
rs112534511
|
|
NM_002529.4(NTRK1):c.1444A>T (p.Lys482Ter)
|
rs879253890
|
|
NM_002529.4(NTRK1):c.526C>T (p.Gln176Ter)
|
rs879253889
|
|
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val)
|
rs397507547
|
|
NM_003073.5(SMARCB1):c.1118+2T>C
|
|
|
NM_003118.4(SPARC):c.57+1G>C
|
|
|
NM_003126.4(SPTA1):c.460_462dup (p.Leu155dup)
|
rs757679761
|
|
NM_003322.6(TULP1):c.901C>T (p.Gln301Ter)
|
rs201070350
|
|
NM_003394.4(WNT10B):c.338-1G>C
|
rs1163162816
|
|
NM_003721.4(RFXANK):c.271+1G>C
|
rs759667201
|
|
NM_003721.4(RFXANK):c.362A>T (p.Asp121Val)
|
rs104894709
|
|
NM_003721.4(RFXANK):c.713-1G>A
|
rs2060720733
|
|
NM_003737.4(DCHS1):c.2225T>A (p.Leu742Ter)
|
rs2134633746
|
|
NM_003742.4(ABCB11):c.2944G>A (p.Gly982Arg)
|
rs72549399
|
|
NM_003742.4(ABCB11):c.3382C>T (p.Arg1128Cys)
|
rs764581483
|
|
NM_004006.3(DMD):c.3940C>T (p.Arg1314Ter)
|
rs5030730
|
|
NM_004035.7(ACOX1):c.1728+1G>A
|
|
|
NM_004333.6(BRAF):c.1406G>A (p.Gly469Glu)
|
rs121913355
|
|
NM_004408.4(DNM1):c.127G>A (p.Gly43Ser)
|
rs1554767313
|
|
NM_004434.3(EML1):c.1567C>T (p.Arg523Ter)
|
rs1555404109
|
|
NM_004519.4(KCNQ3):c.688C>T (p.Arg230Cys)
|
rs796052676
|
|
NM_004628.5(XPC):c.779+1G>A
|
rs975121308
|
|
NM_004646.4(NPHS1):c.1757+1G>A
|
rs1555762591
|
|
NM_004722.4(AP4M1):c.547C>T (p.Gln183Ter)
|
rs1796279189
|
|
NM_004722.4(AP4M1):c.952C>T (p.Arg318Ter)
|
rs730882249
|
|
NM_004750.5(CRLF1):c.397+1G>A
|
rs137853932
|
|
NM_004974.4(KCNA2):c.1214C>T (p.Pro405Leu)
|
|
|
NM_005045.4(RELN):c.3711+2T>C
|
|
|
NM_005219.5(DIAPH1):c.2332C>T (p.Gln778Ter)
|
rs730882242
|
|
NM_005422.4(TECTA):c.4690-1G>A
|
|
|
NM_005529.7(HSPG2):c.11208-7G>A
|
rs1336552092
|
|
NM_005529.7(HSPG2):c.3518del (p.Gly1173fs)
|
rs2152747090
|
|
NM_005562.3(LAMC2):c.136C>T (p.Gln46Ter)
|
rs2102196403
|
|
NM_005591.4(MRE11):c.630G>C (p.Trp210Cys)
|
rs137852763
|
|
NM_005670.4(EPM2A):c.166G>T (p.Glu56Ter)
|
rs796052424
|
|
NM_005677.4(COLQ):c.865G>T (p.Gly289Ter)
|
|
|
NM_005859.5(PURA):c.159dup (p.Leu54fs)
|
rs1554129040
|
|
NM_005908.4(MANBA):c.177+2T>C
|
rs779221957
|
|
NM_006009.4(TUBA1A):c.1169G>A (p.Arg390His)
|
rs1064796460
|
|
NM_006208.3(ENPP1):c.2230+1G>A
|
|
|
NM_006265.3(RAD21):c.68G>A (p.Trp23Ter)
|
|
|
NM_006343.3(MERTK):c.1335_1336del (p.Ala446fs)
|
rs1676689811
|
|
NM_006343.3(MERTK):c.1604+2T>G
|
rs786205534
|
|
NM_006343.3(MERTK):c.325A>T (p.Lys109Ter)
|
rs786205533
|
|
NM_006397.3(RNASEH2A):c.557G>A (p.Arg186Gln)
|
rs753679297
|
|
NM_006439.5(MAB21L2):c.840C>G (p.Tyr280Ter)
|
|
|
NM_006757.4(TNNT3):c.723-2A>G
|
rs1855785074
|
|
NM_006984.5(CLDN10):c.653del (p.Pro218fs)
|
rs2043960821
|
|
NM_007348.4(ATF6):c.949C>T (p.Arg317Ter)
|
rs146640460
|
|
NM_012233.3(RAB3GAP1):c.2710-1G>A
|
|
|
NM_012293.3(PXDN):c.3609-1G>C
|
|
|
NM_012452.3(TNFRSF13B):c.61+1G>T
|
rs1016142312
|
|
NM_014009.4(FOXP3):c.1190G>A (p.Arg397Gln)
|
rs1057520529
|
|
NM_014028.4(OSTM1):c.415_416del (p.Gln140fs)
|
rs794727287
|
|
NM_014168.4(METTL5):c.224+1G>A
|
|
|
NM_014236.4(GNPAT):c.569-3T>G
|
rs745869264
|
|
NM_014251.3(SLC25A13):c.229G>T (p.Glu77Ter)
|
rs1254503252
|
|
NM_014334.4(FRRS1L):c.808C>T (p.Gln270Ter)
|
rs878853280
|
|
NM_014362.4(HIBCH):c.386-1G>C
|
rs1203170244
|
|
NM_014425.5(INVS):c.753T>G (p.Tyr251Ter)
|
rs2118494165
|
|
NM_014714.4(IFT140):c.1525-1G>A
|
rs2034013225
|
|
NM_014844.5(TECPR2):c.571C>T (p.Gln191Ter)
|
rs1888974364
|
|
NM_014845.6(FIG4):c.773C>G (p.Ser258Ter)
|
|
|
NM_014874.4(MFN2):c.1091G>A (p.Arg364Gln)
|
rs879254011
|
|
NM_015028.4(TNIK):c.538C>T (p.Arg180Ter)
|
rs886037841
|
|
NM_015161.3(ARL6IP1):c.112C>T (p.Arg38Ter)
|
|
|
NM_015915.5(ATL1):c.988A>T (p.Lys330Ter)
|
rs786205487
|
|
NM_016077.5(PTRH2):c.254A>C (p.Gln85Pro)
|
rs730882234
|
|
NM_016188.5(ACTL6B):c.999T>A (p.Cys333Ter)
|
rs1562848142
|
|
NM_016239.4(MYO15A):c.4519C>T (p.Arg1507Ter)
|
rs549138385
|
|
NM_016247.4(IMPG2):c.2274G>A (p.Trp758Ter)
|
rs786205564
|
|
NM_016341.4(PLCE1):c.3058C>T (p.Gln1020Ter)
|
rs895782232
|
|
NM_016343.4(CENPF):c.1323+1G>A
|
rs1657782821
|
|
NM_016373.4(WWOX):c.606-1G>A
|
rs730882215
|
|
NM_017565.4(FAM20A):c.915_918del (p.Phe305fs)
|
rs760163489
|
|
NM_017988.6(SCYL2):c.106C>T (p.Arg36Ter)
|
rs760124743
|
|
NM_018136.5(ASPM):c.1138C>T (p.Gln380Ter)
|
rs587783215
|
|
NM_018136.5(ASPM):c.5064T>N (p.Thr1688=)
|
|
|
NM_018136.5(ASPM):c.9091C>T (p.Arg3031Ter)
|
rs587783287
|
|
NM_018238.4(AGK):c.72G>A (p.Trp24Ter)
|
rs1587053244
|
|
NM_018249.6(CDK5RAP2):c.140T>N (p.Val47Xaa)
|
|
|
NM_018249.6(CDK5RAP2):c.3851T>A (p.Leu1284Ter)
|
|
|
NM_018451.5(CENPJ):c.3302-1G>C
|
rs864321658
|
|
NM_018699.4(PRDM5):c.93+2T>C
|
rs1579259095
|
|
NM_018972.4(GDAP1):c.368A>G (p.His123Arg)
|
rs397515442
|
|
NM_019032.6(ADAMTSL4):c.1436del (p.Gly479fs)
|
rs1672096009
|
|
NM_019042.5(PUS7):c.1507G>T (p.Asp503Tyr)
|
rs1444559235
|
|
NM_019616.4(F7):c.1272G>A (p.Trp424Ter)
|
rs2142234775
|
|
NM_019616.4(F7):c.394G>T (p.Glu132Ter)
|
rs146795869
|
|
NM_020451.3(SELENON):c.1406G>A (p.Arg469Gln)
|
rs779162837
|
|
NM_020549.5(CHAT):c.451C>T (p.Arg151Ter)
|
|
|
NM_020632.3(ATP6V0A4):c.292-1G>A
|
rs776867749
|
|
NM_020680.4(SCYL1):c.1386+1G>T
|
rs201581270
|
|
NM_020751.3(COG6):c.1167-24A>G
|
rs730882236
|
|
NM_020812.4(DOCK6):c.4107-1G>C
|
rs397509399
|
|
NM_020822.3(KCNT1):c.862G>A (p.Gly288Ser)
|
rs587777264
|
|
NM_020919.4(ALS2):c.2761C>T (p.Arg921Ter)
|
rs587777132
|
|
NM_022455.5(NSD1):c.2323C>T (p.Gln775Ter)
|
|
|
NM_024301.5(FKRP):c.1364C>A (p.Ala455Asp)
|
rs28937903
|
|
NM_024301.5(FKRP):c.941C>T (p.Thr314Met)
|
rs398124395
|
|
NM_024312.5(GNPTAB):c.136C>T (p.Arg46Ter)
|
rs78347057
|
|
NM_024514.5(CYP2R1):c.367+1G>A
|
rs202011621
|
|
NM_024570.4(RNASEH2B):c.356A>G (p.Asp119Gly)
|
rs786205483
|
|
NM_024649.5(BBS1):c.124+1G>A
|
rs1057516449
|
|
NM_024715.4(TXNDC15):c.103+1G>A
|
rs886039792
|
|
NM_024757.5(EHMT1):c.2968C>T (p.Gln990Ter)
|
|
|
NM_024809.5(TCTN2):c.1852C>T (p.Gln618Ter)
|
rs1956235509
|
|
NM_025000.4(DCAF17):c.436del (p.Ala147fs)
|
rs797045038
|
|
NM_030777.4(SLC2A10):c.243C>G (p.Ser81Arg)
|
rs80358230
|
|
NM_031433.4(MFRP):c.746G>A (p.Trp249Ter)
|
rs786205471
|
|
NM_032520.5(GNPTG):c.344ACA[1] (p.Asn116del)
|
rs193302849
|
|
NM_032793.5(MFSD2A):c.476C>T (p.Thr159Met)
|
rs1057517688
|
|
NM_033028.5(BBS4):c.157-2A>G
|
rs113994192
|
|
NM_033419.5(PGAP3):c.850C>T (p.His284Tyr)
|
rs759541820
|
|
NM_052867.4(NALCN):c.4150C>T (p.Arg1384Ter)
|
rs1031314447
|
|
NM_054012.4(ASS1):c.364-2A>G
|
rs774231051
|
|
NM_054012.4(ASS1):c.379C>T (p.Arg127Trp)
|
rs771794639
|
|
NM_130466.4(UBE3B):c.556C>T (p.Arg186Ter)
|
rs1566078009
|
|
NM_130837.3(OPA1):c.1099C>T (p.Arg367Ter)
|
|
|
NM_130837.3(OPA1):c.1499G>A (p.Arg500His)
|
rs80356529
|
|
NM_133433.4(NIPBL):c.3060_3063del (p.Glu1021fs)
|
rs587783914
|
|
NM_138425.4(C12orf57):c.53-2A>G
|
rs1114167293
|
|
NM_138694.4(PKHD1):c.4644del (p.Tyr1549fs)
|
rs2128143028
|
|
NM_144643.4(SCLT1):c.290+2T>C
|
rs587777504
|
|
NM_152281.3(GORAB):c.231dup (p.Pro78fs)
|
rs1571243797
|
|
NM_152383.5(DIS3L2):c.1810C>T (p.Gln604Ter)
|
rs1695684357
|
|
NM_152564.5(VPS13B):c.1219C>T (p.Gln407Ter)
|
rs386834070
|
|
NM_152564.5(VPS13B):c.292-1G>A
|
rs1057520768
|
|
NM_153676.4(USH1C):c.2380+1G>C
|
rs1060499916
|
|
NM_170707.4(LMNA):c.148C>T (p.Arg50Cys)
|
rs59931416
|
|
NM_170784.3(MKKS):c.116C>T (p.Pro39Leu)
|
rs1270369106
|
|
NM_173483.4(CYP4F22):c.177C>G (p.Phe59Leu)
|
rs118091316
|
|
NM_178161.3(PTF1A):c.571C>A (p.Pro191Thr)
|
rs1588563037
|
|
NM_178170.3(NEK8):c.515dup (p.Pro172_Glu173insTer)
|
rs2151732018
|
|
NM_178172.6(GPIHBP1):c.323C>G (p.Thr108Arg)
|
rs752728823
|
|
NM_178526.5(SLC25A42):c.871A>G (p.Asn291Asp)
|
rs864321624
|
|
NM_182961.4(SYNE1):c.25006C>T (p.Arg8336Ter)
|
|
|
NM_183065.4(TMEM107):c.256+1G>A
|
rs1131692180
|
|
NM_183235.3(RAB27A):c.467+3_467+6del
|
|
|
NM_194279.4(ISCA2):c.229G>A (p.Gly77Ser)
|
rs730882246
|
|
NM_194454.3(KRIT1):c.1747_1756del (p.Ser583fs)
|
|
|
NM_198129.4(LAMA3):c.8302C>T (p.Arg2768Ter)
|
rs998162536
|
|
NM_198271.5(LMOD3):c.944_945del (p.Leu315fs)
|
|
|
NM_198721.4(COL25A1):c.1598del (p.Pro533fs)
|
|
|
NM_201253.3(CRB1):c.1429G>A (p.Gly477Arg)
|
rs866822473
|
|
NM_206933.4(USH2A):c.486-1G>C
|
rs876657730
|
|
XM_011517384.2:c.1149G>A
|
|
|