ClinVar Miner

List of variants reported as likely pathogenic by Centre for Mendelian Genomics,University Medical Centre Ljubljana

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 794
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HGVS dbSNP
GRCh37/hg19 16p11.2(chr16:29656684-30197341)
GRCh37/hg19 16q24.3(chr16:89616901-89620368)
GRCh37/hg19 19p13.3(chr19:259395-3152419)
GRCh37/hg19 2p16.1-15(chr2:60308869-62368583)
GRCh37/hg19 3p26.3-26.1(chr3:93949-5427855)
GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)
NC_000001.11:g.215741537del
NC_000016.10:g.4799684_4799685insC
NC_012920.1:m.14598T>C rs1057518882
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) rs77931234
NM_000018.4(ACADVL):c.1358G>A (p.Arg453Gln) rs138058572
NM_000018.4(ACADVL):c.1376G>A (p.Arg459Gln) rs751995154
NM_000019.4(ACAT1):c.826+2T>G
NM_000019.4(ACAT1):c.890C>T (p.Thr297Met) rs886041122
NM_000021.4(PSEN1):c.356C>T (p.Thr119Ile) rs1566630791
NM_000021.4(PSEN1):c.791C>T (p.Pro264Leu) rs63750301
NM_000023.4(SGCA):c.409G>A (p.Glu137Lys) rs372210292
NM_000033.4(ABCD1):c.1866-10G>A rs398123108
NM_000033.4(ABCD1):c.1866-1G>C rs1557055311
NM_000033.4(ABCD1):c.880G>A (p.Ala294Thr) rs1131691954
NM_000036.2(AMPD1):c.567G>T (p.Gln189His) rs139582106
NM_000036.2(AMPD1):c.959A>T (p.Lys320Ile) rs34526199
NM_000037.4(ANK1):c.4855G>T (p.Glu1619Ter)
NM_000043.6(FAS):c.536T>G (p.Leu179Arg) rs1554851718
NM_000047.2(ARSL):c.1743G>A (p.Trp581Ter) rs80338714
NM_000051.4(ATM):c.8268+2T>C
NM_000051.4(ATM):c.8494C>T (p.Arg2832Cys) rs587779872
NM_000052.7(ATP7A):c.1544-2A>T
NM_000053.4(ATP7B):c.2963G>A (p.Gly988Glu) rs1057518867
NM_000053.4(ATP7B):c.3007G>A (p.Ala1003Thr) rs201497300
NM_000053.4(ATP7B):c.532_535del (p.Leu178fs)
NM_000059.4(BRCA2):c.8792del (p.Asn2931fs)
NM_000067.3(CA2):c.472A>G (p.Lys158Glu)
NM_000070.3(CAPN3):c.1524G>A (p.Glu508=) rs886043432
NM_000070.3(CAPN3):c.632+5G>A rs1555420508
NM_000080.4(CHRNE):c.3G>A (p.Met1Ile)
NM_000083.3(CLCN1):c.1027T>C (p.Phe343Leu) rs1554436510
NM_000083.3(CLCN1):c.1662_1663dup (p.His555fs) rs1554438441
NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter) rs55960271
NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu) rs149729531
NM_000083.3(CLCN1):c.937G>A (p.Ala313Thr) rs80356692
NM_000083.3(CLCN1):c.950G>A (p.Arg317Gln) rs80356702
NM_000085.4(CLCNKB):c.937_940dup (p.Arg314delinsLysTer) rs779593707
NM_000087.3(CNGA1):c.959C>T rs62625014
NM_000088.3(COL1A1):c.934C>T (p.Arg312Cys) rs72645347
NM_000088.4(COL1A1):c.1084G>A (p.Gly362Ser)
NM_000089.4(COL1A2):c.1972-2A>T
NM_000089.4(COL1A2):c.2306G>T (p.Gly769Val)
NM_000089.4(COL1A2):c.2629G>A (p.Gly877Ser)
NM_000089.4(COL1A2):c.551G>A (p.Gly184Asp)
NM_000090.3(COL3A1):c.1052G>T (p.Gly351Val) rs587779498
NM_000090.4(COL3A1):c.1465G>T (p.Gly489Trp)
NM_000091.4(COL4A3):c.3546_3548dup (p.Gly1183dup) rs1175052474
NM_000091.5(COL4A3):c.3672del (p.Pro1226fs)
NM_000091.5(COL4A3):c.838G>A (p.Gly280Arg)
NM_000092.4(COL4A4):c.2320G>C rs569681869
NM_000092.4(COL4A4):c.2690G>A (p.Gly897Glu) rs121912860
NM_000092.4(COL4A4):c.4394G>A (p.Gly1465Asp) rs533297350
NM_000093.5(COL5A1):c.4804_4805insCGTTCTCTACCAGCTGC (p.Val1602fs)
NM_000094.3(COL7A1):c.1442G>A (p.Arg481His) rs147040026
NM_000094.3(COL7A1):c.8047G>A (p.Gly2683Ser) rs1057518863
NM_000098.3(CPT2):c.1436A>T (p.Tyr479Phe) rs749895856
NM_000103.4(CYP19A1):c.1263+1G>T
NM_000123.3(ERCC5):c.2927_2928CT[1] (p.Leu977fs) rs1057518813
NM_000124.4(ERCC6):c.1589T>C (p.Leu530Pro) rs1057518910
NM_000138.4(FBN1):c.1481G>T (p.Cys494Phe) rs1057518881
NM_000138.4(FBN1):c.2645C>T (p.Ala882Val) rs794728195
NM_000138.4(FBN1):c.2669G>A (p.Cys890Tyr) rs1555399144
NM_000138.4(FBN1):c.478T>C (p.Cys160Arg) rs1057518973
NM_000138.4(FBN1):c.5183C>T (p.Ala1728Val) rs1131691804
NM_000138.4(FBN1):c.7274A>G (p.Tyr2425Cys) rs1057518809
NM_000138.4(FBN1):c.7829A>G (p.Glu2610Gly) rs1555393889
NM_000138.4(FBN1):c.8016T>G (p.Cys2672Trp) rs1057518883
NM_000141.5(FGFR2):c.1025G>A (p.Cys342Tyr) rs121918487
NM_000141.5(FGFR2):c.1040C>G (p.Ser347Cys) rs121918494
NM_000143.3(FH):c.322C>T (p.Gln108Ter) rs1060499630
NM_000143.4(FH):c.1158_1160del (p.Gln386_Val387delinsHis)
NM_000152.5(GAA):c.1194+5G>A
NM_000152.5(GAA):c.1309C>T (p.Arg437Cys) rs770610356
NM_000152.5(GAA):c.461G>C (p.Arg154Pro)
NM_000153.4(GALC):c.196G>A (p.Ala66Thr) rs1057518843
NM_000153.4(GALC):c.749T>C (p.Ile250Thr) rs886039569
NM_000153.4(GALC):c.850G>A (p.Gly284Ser) rs377274761
NM_000157.4(GBA):c.1090G>A (p.Gly364Arg) rs121908305
NM_000157.4(GBA):c.1226A>G (p.Asn409Ser) rs76763715
NM_000161.3(GCH1):c.655C>T (p.Gln219Ter) rs1555358382
NM_000165.5(GJA1):c.396_398del (p.Ile132_Lys133delinsMet)
NM_000165.5(GJA1):c.486G>C (p.Lys162Asn) rs1057518960
NM_000166.6(GJB1):c.109G>T (p.Val37Leu) rs1057518946
NM_000166.6(GJB1):c.502T>G (p.Cys168Gly) rs1057518780
NM_000166.6(GJB1):c.584T>C (p.Leu195Pro) rs1569215413
NM_000169.3(GLA):c.688G>A (p.Ala230Thr)
NM_000170.2(GLDC):c.176G>C (p.Arg59Thr) rs386833530
NM_000170.3(GLDC):c.2380_2399del (p.Ala794fs)
NM_000180.3(GUCY2D):c.129_134delTCTGCT (p.Leu44_Leu45del) rs552184470
NM_000180.4(GUCY2D):c.2512C>T (p.Arg838Cys) rs61750172
NM_000190.4(HMBS):c.958del (p.Ala320fs) rs1057518806
NM_000199.5(SGSH):c.220C>T (p.Arg74Cys) rs104894636
NM_000211.5(ITGB2):c.2077C>T (p.Arg693Ter)
NM_000212.2(ITGB3):c.1699C>T (p.Gln567Ter) rs1057518837
NM_000212.2(ITGB3):c.749A>G (p.Asp250Gly) rs1057518838
NM_000226.4(KRT9):c.487C>T (p.Arg163Trp) rs59616921
NM_000252.3(MTM1):c.592T>C (p.Tyr198His)
NM_000255.4(MMUT):c.61G>T (p.Glu21Ter)
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln) rs200411226
NM_000257.4(MYH7):c.1987C>A (p.Arg663Ser)
NM_000257.4(MYH7):c.2011C>T (p.Arg671Cys) rs727503263
NM_000257.4(MYH7):c.2192C>G (p.Pro731Arg)
NM_000257.4(MYH7):c.2572C>T (p.Arg858Cys) rs2754158
NM_000257.4(MYH7):c.2631G>T (p.Met877Ile) rs1060505018
NM_000257.4(MYH7):c.3613G>A (p.Glu1205Lys) rs727505026
NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln) rs193922390
NM_000257.4(MYH7):c.5560-2A>C rs1566521710
NM_000260.4(MYO7A):c.6409G>A (p.Gly2137Arg)
NM_000261.2(MYOC):c.1102C>T (p.Gln368Ter) rs74315329
NM_000262.3(NAGA):c.759+1_759+8del
NM_000266.4(NDP):c.268C>T (p.Arg90Cys) rs1057518793
NM_000266.4(NDP):c.308_311dup (p.Lys104fs) rs1555976049
NM_000266.4(NDP):c.314C>T (p.Ala105Val) rs1057518836
NM_000267.3(NF1):c.2252-3T>G rs1057518842
NM_000267.3(NF1):c.2410-1G>A rs1057518792
NM_000267.3(NF1):c.4172G>C (p.Arg1391Thr) rs1555618516
NM_000267.3(NF1):c.4537C>T (p.Arg1513Ter) rs760703505
NM_000267.3(NF1):c.4765dup (p.Ala1589fs) rs1555619420
NM_000267.3(NF1):c.5750-1G>A rs1057518974
NM_000267.3(NF1):c.616_617insGG (p.Lys206fs) rs1555608663
NM_000267.3(NF1):c.68del (p.Ile23fs) rs1057518884
NM_000271.5(NPC1):c.181G>T (p.Glu61Ter)
NM_000271.5(NPC1):c.2050C>T (p.Leu684Phe) rs1057518942
NM_000271.5(NPC1):c.2366G>A (p.Arg789His) rs483352891
NM_000271.5(NPC1):c.2819C>T (p.Ser940Leu) rs143124972
NM_000271.5(NPC1):c.3560C>G (p.Ala1187Gly) rs113371321
NM_000273.3(GPR143):c.12_36del (p.Leu6fs) rs1057518787
NM_000274.3(OAT):c.875A>G (p.Lys292Arg) rs1057518927
NM_000275.3(OCA2):c.1025A>G (p.Tyr342Cys) rs142931246
NM_000277.3(PAH):c.912+2T>C rs281865449
NM_000283.3(PDE6B):c.1580T>C (p.Leu527Pro) rs760766981
NM_000284.4(PDHA1):c.57+2531T>C
NM_000284.4(PDHA1):c.615C>G (p.Phe205Leu) rs137853254
NM_000287.4(PEX6):c.160_243del (p.Val54_Leu81del)
NM_000287.4(PEX6):c.2663G>C (p.Arg888Pro)
NM_000303.3(PMM2):c.28C>T (p.Leu10Phe)
NM_000304.4(PMP22):c.36C>A (p.His12Gln) rs104894622
NM_000314.7(PTEN):c.103A>G (p.Met35Val) rs876659443
NM_000314.7(PTEN):c.16A>G (p.Lys6Glu) rs1589596143
NM_000314.7(PTEN):c.277C>A (p.His93Asn) rs786204927
NM_000321.3(RB1):c.719-2A>T
NM_000322.5(PRPH2):c.469G>A (p.Asp157Asn) rs61755787
NM_000322.5(PRPH2):c.793dup (p.Met265fs)
NM_000328.3(RPGR):c.1905+1552T>A
NM_000329.3(RPE65):c.11+5G>A rs61751276
NM_000330.4(RS1):c.649del (p.Leu217fs)
NM_000334.4(SCN4A):c.1333G>T (p.Val445Leu) rs121908552
NM_000334.4(SCN4A):c.2012T>G (p.Phe671Cys)
NM_000334.4(SCN4A):c.2095G>A (p.Ala699Thr) rs1057518865
NM_000335.4(SCN5A):c.1613del (p.Gly538fs) rs1553704183
NM_000335.5(SCN5A):c.612-189C>T
NM_000342.4(SLC4A1):c.1153G>C (p.Asp385His)
NM_000350.2(ABCA4):c.5882G>A rs1800553
NM_000350.3(ABCA4):c.203C>T (p.Pro68Leu) rs62654397
NM_000350.3(ABCA4):c.3272G>A (p.Gly1091Glu) rs61752417
NM_000350.3(ABCA4):c.3292C>T (p.Arg1098Cys) rs756840095
NM_000350.3(ABCA4):c.3322C>T (p.Arg1108Cys) rs61750120
NM_000350.3(ABCA4):c.428C>T (p.Pro143Leu) rs62646860
NM_000350.3(ABCA4):c.5413A>G (p.Asn1805Asp) rs61753029
NM_000350.3(ABCA4):c.5942C>G (p.Thr1981Arg) rs752147871
NM_000350.3(ABCA4):c.688T>A (p.Cys230Ser) rs1057518767
NM_000352.6(ABCC8):c.1024G>T (p.Gly342Trp) rs763028380
NM_000352.6(ABCC8):c.1793G>A (p.Arg598Gln) rs1344172059
NM_000352.6(ABCC8):c.3517G>A (p.Val1173Met) rs141322087
NM_000368.4(TSC1):c.658del (p.Val220fs) rs1057518945
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln) rs1126809
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313
NM_000372.5(TYR):c.1352A>G (p.Tyr451Cys) rs376823382
NM_000372.5(TYR):c.265T>C (p.Cys89Arg) rs28940877
NM_000372.5(TYR):c.325G>A (p.Gly109Arg) rs61753253
NM_000384.3(APOB):c.5893G>T (p.Glu1965Ter)
NM_000388.4(CASR):c.2383C>T (p.Arg795Trp) rs121909258
NM_000388.4(CASR):c.2449G>A (p.Val817Ile) rs1057518933
NM_000390.4(CHM):c.539del (p.Asn180fs)
NM_000390.4(CHM):c.75_77del (p.Ala26del) rs1555968874
NM_000393.5(COL5A2):c.754G>T (p.Gly252Cys) rs1553517323
NM_000400.3(ERCC2):c.1703_1704del (p.Phe568fs) rs587778271
NM_000404.4(GLB1):c.176G>A (p.Arg59His) rs72555392
NM_000426.3(LAMA2):c.2049_2050delAG rs202247790
NM_000426.3(LAMA2):c.5476C>T (p.Arg1826Ter) rs747349942
NM_000430.4(PAFAH1B1):c.1142A>G (p.His381Arg)
NM_000430.4(PAFAH1B1):c.661G>A (p.Val221Met)
NM_000431.4(MVK):c.1129G>A (p.Val377Ile) rs28934897
NM_000432.4(MYL2):c.193G>A (p.Glu65Lys) rs397516398
NM_000435.3(NOTCH3):c.1450T>G (p.Cys484Gly) rs1555728965
NM_000435.3(NOTCH3):c.3226C>T (p.Arg1076Cys) rs1438626607
NM_000435.3(NOTCH3):c.397C>T (p.Arg133Cys) rs137852642
NM_000435.3(NOTCH3):c.932G>T (p.Cys311Phe) rs1555729346
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu) rs111033212
NM_000441.2(SLC26A4):c.1693T>G (p.Cys565Gly) rs767255075
NM_000441.2(SLC26A4):c.299T>C (p.Leu100Pro) rs1057518810
NM_000455.4(STK11):c.856_858delCTG rs1057518830
NM_000478.6(ALPL):c.1182dup (p.Ile395fs) rs754826836
NM_000478.6(ALPL):c.542C>T (p.Ser181Leu) rs199590449
NM_000478.6(ALPL):c.568_570del (p.Asn190del)
NM_000478.6(ALPL):c.997+2T>A
NM_000481.4(AMT):c.217C>T (p.Arg73Cys) rs386833679
NM_000489.5(ATRX):c.5026G>T (p.Gly1676Cys) rs1557106484
NM_000489.5(ATRX):c.6254G>A (p.Arg2085His) rs1057517948
NM_000492.3(CFTR):c.1521_1523delCTT (p.Phe508delPhe) rs113993960
NM_000494.4(COL17A1):c.2336-1G>T rs1589562891
NM_000497.3(CYP11B1):c.1343G>A (p.Arg448His) rs28934586
NM_000520.6(HEXA):c.1510C>T (p.Arg504Cys) rs28942071
NM_000520.6(HEXA):c.805G>A (p.Gly269Ser) rs121907954
NM_000525.3(KCNJ11):c.185C>G (p.Thr62Arg) rs1057518775
NM_000528.4(MAN2B1):c.1583dup (p.Pro529fs) rs748872992
NM_000530.8(MPZ):c.173T>A (p.Val58Asp) rs1571820049
NM_000530.8(MPZ):c.293G>A (p.Arg98His) rs121913589
NM_000530.8(MPZ):c.392dup (p.Asn131fs)
NM_000530.8(MPZ):c.699T>G (p.Ser233Arg) rs1057518839
NM_000533.5(PLP1):c.743C>A (p.Ala248Glu)
NM_000539.3(RHO):c.260T>A (p.Val87Asp) rs104893771
NM_000539.3(RHO):c.50C>T (p.Thr17Met) rs104893769
NM_000539.3(RHO):c.759G>T (p.Met253Ile) rs756658659
NM_000540.2(RYR1):c.1186G>A (p.Glu396Lys) rs774919231
NM_000540.2(RYR1):c.12532G>A (p.Gly4178Ser) rs1057518885
NM_000540.2(RYR1):c.13913G>A (p.Gly4638Asp) rs118192135
NM_000540.2(RYR1):c.1990G>C (p.Glu664Gln) rs1555769818
NM_000540.2(RYR1):c.325C>T (p.Arg109Trp) rs118192173
NM_000540.2(RYR1):c.3535C>T (p.Arg1179Trp) rs763944786
NM_000540.2(RYR1):c.7291G>T (p.Asp2431Tyr) rs193922810
NM_000540.2(RYR1):c.7522C>T (p.Arg2508Cys) rs118192178
NM_000540.2(RYR1):c.844C>T (p.Arg282Trp) rs1057518970
NM_000540.2(RYR1):c.8463G>A (p.Trp2821Ter) rs1057518773
NM_000540.2(RYR1):c.9850T>C (p.Trp3284Arg) rs1555788577
NM_000540.3(RYR1):c.2338dup (p.Val780fs)
NM_000545.8(HNF1A):c.1624-2A>G
NM_000548.5(TSC2):c.5160+4A>C rs45517403
NM_000548.5(TSC2):c.886G>A (p.Val296Met) rs747237113
NM_000550.3(TYRP1):c.1133A>G (p.Asn378Ser) rs771055145
NM_000550.3(TYRP1):c.670C>T (p.His224Tyr) rs1057518841
NM_000553.6(WRN):c.724+1G>T rs1339616347
NM_000709.4(BCKDHA):c.1168-1G>A
NM_000709.4(BCKDHA):c.1312T>A (p.Tyr438Asn) rs137852870
NM_000747.3(CHRNB1):c.687_688insT (p.Gly230fs)
NM_000751.3(CHRND):c.1385G>T (p.Trp462Leu) rs1057518957
NM_000751.3(CHRND):c.822del (p.Ser274fs) rs1057518958
NM_000784.4(CYP27A1):c.1420C>T (p.Arg474Trp) rs121908098
NM_000834.4(GRIN2B):c.2216T>G (p.Met739Arg) rs1555103652
NM_000834.4(GRIN2B):c.2225G>T (p.Arg742Ile) rs1555103646
NM_000834.4(GRIN2B):c.2395G>A (p.Gly799Ser) rs1057518800
NM_000883.4(IMPDH1):c.928A>C (p.Thr310Pro) rs1057518949
NM_000944.5(PPP3CA):c.1283dup (p.Thr429fs)
NM_001003800.2(BICD2):c.1667A>C (p.Tyr556Ser) rs1587668748
NM_001006658.3(CR2):c.2334T>A (p.Cys778Ter)
NM_001009944.3(PKD1):c.11524T>C (p.Trp3842Arg) rs1057518959
NM_001009944.3(PKD1):c.303C>G (p.Asn101Lys)
NM_001009944.3(PKD1):c.359T>C (p.Ile120Thr) rs1555459345
NM_001009944.3(PKD1):c.3785A>G (p.His1262Arg) rs1057518976
NM_001009944.3(PKD1):c.4846G>T (p.Glu1616Ter) rs566014072
NM_001009944.3(PKD1):c.6877C>T (p.Pro2293Ser) rs1383657728
NM_001009944.3(PKD1):c.7567_7569GAG[1] (p.Glu2524del) rs1555452876
NM_001009944.3(PKD1):c.8284_8295del (p.Ile2762_Arg2765del) rs1596527370
NM_001009944.3(PKD1):c.9185T>A (p.Val3062Asp) rs1057518856
NM_001018100.5(MYZAP):c.236C>A (p.Ser79Ter) rs992189342
NM_001029896.2(WDR45):c.598_599del (p.Leu200fs)
NM_001030001.4(RPS29):c.149T>C (p.Ile50Thr) rs587777569
NM_001032382.2(PQBP1):c.623C>A (p.Ser208Ter)
NM_001032386.2(SUOX):c.599C>T (p.Pro200Leu)
NM_001034116.2(EIF2B4):c.414dup (p.Ser139fs)
NM_001035.3(RYR2):c.10209dup (p.Ile3404fs)
NM_001039141.3(TRIOBP):c.3073C>T (p.Arg1025Ter)
NM_001039348.3(EFEMP1):c.1189T>C (p.Tyr397His) rs1553348960
NM_001040142.2(SCN2A):c.4801G>A (p.Val1601Met)
NM_001040716.2(PC):c.3306dup (p.Lys1103fs)
NM_001042492.3(NF1):c.279T>G (p.Cys93Trp)
NM_001042492.3(NF1):c.4252del (p.Ile1418fs)
NM_001042723.2(RYR1):c.4405C>T (p.Arg1469Trp) rs200546266
NM_001044.5(SLC6A3):c.1398+5G>A
NM_001079821.2(NLRP3):c.1805A>G (p.Gln602Arg) rs1057518827
NM_001080.3(ALDH5A1):c.1226G>A (p.Gly409Asp) rs118203984
NM_001082971.2(DDC):c.571-2A>G
NM_001085458.2(CTNND1):c.1687C>T (p.Gln563Ter)
NM_001099404.1(SCN5A):c.1255C>T (p.Gln419Ter) rs1057518916
NM_001100.3(ACTA1):c.16G>A (p.Glu6Lys) rs367543048
NM_001100.4(ACTA1):c.593G>A (p.Arg198His)
NM_001110556.2(FLNA):c.1924G>T (p.Glu642Ter)
NM_001110556.2(FLNA):c.5063T>G (p.Val1688Gly) rs1461148946
NM_001110556.2(FLNA):c.622+5G>C
NM_001110556.2(FLNA):c.7023+4A>T rs1557175789
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val) rs28934908
NM_001111125.3(IQSEC2):c.956del (p.Leu319fs)
NM_001127222.2(CACNA1A):c.3631G>T (p.Glu1211Ter)
NM_001127222.2(CACNA1A):c.4988G>A (p.Arg1663Gln) rs121908247
NM_001127222.2(CACNA1A):c.5419G>T (p.Ala1807Ser) rs1555736565
NM_001127222.2(CACNA1A):c.574C>T (p.Arg192Trp) rs1057518779
NM_001127698.2(SPINK5):c.1431-12G>A rs368134354
NM_001127698.2(SPINK5):c.891C>T (p.Cys297=) rs752941297
NM_001127898.4(CLCN5):c.1551del (p.Gly517_Met518insTer) rs1557194090
NM_001130438.3(SPTAN1):c.6917_6922GCATGC[3] (p.Arg2308_Met2309dup) rs796053335
NM_001130969.3(NSMF):c.673A>G (p.Ser225Gly)
NM_001134673.4(NFIA):c.1228C>T (p.Gln410Ter)
NM_001139.3(ALOX12B):c.944T>C (p.Leu315Pro)
NM_001142279.2(RNASEH2B):c.554T>G (p.Val185Gly) rs74555752
NM_001145358.2(SIN3A):c.866C>A (p.Ser289Ter)
NM_001151.4(SLC25A4):c.368C>A (p.Ala123Asp) rs121912683
NM_001163435.3(TBCK):c.1351-1G>A
NM_001164277.1(SLC37A4):c.81T>A (p.Asn27Lys) rs193302889
NM_001165963.4(SCN1A):c.1178G>A (p.Arg393His) rs121917927
NM_001165963.4(SCN1A):c.1922_1923delinsATC (p.Met641fs)
NM_001165963.4(SCN1A):c.4019T>C (p.Leu1340Pro)
NM_001165963.4(SCN1A):c.4988T>C (p.Leu1663Ser)
NM_001165963.4(SCN1A):c.602+3_602+6del
NM_001165963.4(SCN1A):c.680T>C (p.Ile227Thr)
NM_001165963.4(SCN1A):c.941G>A (p.Trp314Ter)
NM_001165963.4(SCN1A):c.971_973ATT[1] (p.Tyr325del) rs1553548194
NM_001166114.2(PNPLA6):c.3298G>A (p.Val1100Met) rs587777182
NM_001166114.2(PNPLA6):c.4045C>T (p.Arg1349Trp) rs374434303
NM_001166114.2(PNPLA6):c.898C>G (p.Pro300Ala) rs1057518936
NM_001171.5(ABCC6):c.2097G>T (p.Glu699Asp) rs72653784
NM_001171.6(ABCC6):c.2836del (p.Leu946fs)
NM_001171.6(ABCC6):c.3892G>A (p.Val1298Ile)
NM_001172509.2(SATB2):c.1808_1817del (p.Pro603fs)
NM_001172509.2(SATB2):c.1990C>T (p.Gln664Ter) rs1553538917
NM_001172509.2(SATB2):c.823C>T (p.Gln275Ter)
NM_001182.5(ALDH7A1):c.664A>G (p.Thr222Ala) rs777829351
NM_001184.4(ATR):c.7273C>T (p.Arg2425Ter)
NM_001194998.2(CEP152):c.343C>T (p.Arg115Ter)
NM_001194998.2(CEP152):c.528G>A (p.Trp176Ter)
NM_001195129.2(PRSS56):c.94del (p.Gln32fs)
NM_001199397.3(NEK1):c.893del (p.Asn298fs)
NM_001199799.2(ILDR1):c.745del (p.Ser249fs) rs571007078
NM_001201543.2(FAM161A):c.294del (p.Lys98_Val99insTer)
NM_001206744.2(TPO):c.1558C>T (p.His520Tyr) rs1057518950
NM_001242896.3(DEPDC5):c.1395dup (p.Val466fs)
NM_001244008.1(KIF1A):c.232G>A (p.Gly78Ser) rs1057518760
NM_001256789.3(CACNA1F):c.694A>T (p.Lys232Ter) rs1057518829
NM_001267550.2(TTN):c.103360del (p.Glu34454fs) rs760768093
NM_001267550.2(TTN):c.104092_104103delinsGAAGCTTT (p.Arg34698fs)
NM_001267550.2(TTN):c.107635C>T (p.Gln35879Ter) rs757082154
NM_001267550.2(TTN):c.35265dup (p.Pro11756fs) rs1198364572
NM_001267550.2(TTN):c.47961del (p.Gly15988fs) rs1553707780
NM_001267550.2(TTN):c.58368dup (p.Tyr19457fs)
NM_001267550.2(TTN):c.79599_79621del (p.Glu26533fs)
NM_001270974.2(HYDIN):c.11304del (p.Lys3768fs)
NM_001271208.2(NEB):c.24094C>T (p.Arg8032Ter) rs549794342
NM_001271938.2(MEGF8):c.3351-2A>C
NM_001277115.2(DNAH11):c.5699_5700del (p.Thr1900fs)
NM_001278074.1(COL5A1):c.2903del (p.Pro968fs) rs1057518871
NM_001278074.1(COL5A1):c.5150_5158del (p.Asp1717_Glu1719del) rs1554726245
NM_001278074.1(COL5A1):c.608G>T (p.Gly203Val) rs1554781700
NM_001282531.3(ADNP):c.2188C>T (p.Arg730Ter) rs886041116
NM_001282531.3(ADNP):c.64dup (p.Ile22fs)
NM_001282716.1(STAG3):c.2776C>T (p.Arg926Ter) rs764841861
NM_001292034.3(TAB2):c.1039C>T (p.Arg347Ter) rs1057518422
NM_001298.3(CNGA3):c.1641C>A (p.Phe547Leu) rs104893617
NM_001298.3(CNGA3):c.829C>T (p.Arg277Cys) rs104893620
NM_001298.3(CNGA3):c.847C>T (p.Arg283Trp) rs104893613
NM_001323289.2(CDKL5):c.1471_1472dup (p.Leu492fs) rs1057518759
NM_001330260.2(SCN8A):c.4235T>C (p.Phe1412Ser) rs1555228665
NM_001330288.2(SMARCC2):c.3221dup (p.Gly1075fs)
NM_001330311.2(DVL1):c.1682_1683dup (p.Ser562fs)
NM_001347721.2(DYRK1A):c.924+4_924+7del rs1555984461
NM_001354604.2(MITF):c.794A>G (p.Tyr265Cys) rs1057518765
NM_001356.5(DDX3X):c.1575T>A (p.Tyr525Ter)
NM_001360.2(DHCR7):c.655T>C (p.Tyr219His) rs779896782
NM_001363.5(DKC1):c.133G>A (p.Ala45Thr)
NM_001365068.1(ASTN2):c.2806+26470del rs1588218453
NM_001365088.1(SLC12A6):c.752dup (p.Ser252fs) rs1555380716
NM_001365902.3(NFIX):c.1449del (p.Ile483fs)
NM_001371596.2(MFSD8):c.1350+2T>C
NM_001371596.2(MFSD8):c.923A>G (p.Tyr308Cys)
NM_001372066.1(TFAP2A):c.1039T>C (p.Cys347Arg)
NM_001374258.1(BRAF):c.1622A>G (p.Glu541Gly) rs180177039
NM_001376.5(DYNC1H1):c.1802T>A (p.Ile601Asn) rs1057518776
NM_001376.5(DYNC1H1):c.6994C>T (p.Arg2332Cys) rs1057518961
NM_001376.5(DYNC1H1):c.751C>T (p.Arg251Cys) rs879253979
NM_001376.5(DYNC1H1):c.829T>G (p.Phe277Val) rs1057518935
NM_001377.3(DYNC2H1):c.7594C>T (p.Arg2532Trp) rs1350329646
NM_001378120.1(MBD5):c.830C>G (p.Ser277Ter)
NM_001378477.1(NYX):c.619_627dup (p.Arg207_Arg209dup)
NM_001379500.1(COL18A1):c.992dup (p.Arg332fs)
NM_001390.4(DTNA):c.177A>G (p.Ile59Met) rs1057518968
NM_001451.3(FOXF1):c.280A>T (p.Asn94Tyr) rs1057518868
NM_001453.3(FOXC1):c.456G>T (p.Trp152Cys)
NM_001457.4(FLNB):c.644T>A (p.Ile215Asn)
NM_001458.4(FLNC):c.3557C>T (p.Ala1186Val) rs1114167361
NM_001458.5(FLNC):c.893_908del (p.Phe298fs)
NM_001793.6(CDH3):c.2087del (p.Asp696fs)
NM_001813.3(CENPE):c.2132-1G>C
NM_001844.5(COL2A1):c.1693C>T (p.Arg565Cys) rs121912884
NM_001844.5(COL2A1):c.1916G>A (p.Gly639Asp) rs1057518908
NM_001844.5(COL2A1):c.3139G>A (p.Gly1047Ser) rs1555165245
NM_001844.5(COL2A1):c.3472G>C (p.Gly1158Arg) rs1057518911
NM_001848.2(COL6A1):c.814G>A (p.Gly272Ser) rs398123640
NM_001849.3(COL6A2):c.736-2A>G rs1057518925
NM_001853.4(COL9A3):c.184-2A>G
NM_001854.4(COL11A1):c.4048_4065del (p.Ser1350_Pro1355del) rs1553200431
NM_001879.6(MASP1):c.1303+5102dup
NM_001879.6(MASP1):c.1809+1G>A
NM_001879.6(MASP1):c.992_993del (p.Thr331fs)
NM_001904.4(CTNNB1):c.1876G>T (p.Glu626Ter) rs1553632357
NM_001942.4(DSG1):c.1176T>G (p.Tyr392Ter) rs761241711
NM_001942.4(DSG1):c.604G>T (p.Glu202Ter) rs1057518788
NM_001943.5(DSG2):c.3G>A (p.Met1Ile) rs1021457619
NM_001943.5(DSG2):c.803_810dup (p.Val271fs)
NM_001943.5(DSG2):c.874C>T (p.Arg292Cys) rs770921270
NM_001958.4(EEF1A2):c.364G>A (p.Glu122Lys)
NM_001999.4(FBN2):c.3592T>C (p.Cys1198Arg)
NM_001999.4(FBN2):c.4055G>C (p.Cys1352Ser)
NM_002024.5(FMR1):c.199-2A>G rs1057518850
NM_002055.5(GFAP):c.1046A>C (p.Tyr349Ser) rs1057518828
NM_002180.2(IGHMBP2):c.181G>A (p.Gly61Arg) rs1057518943
NM_002180.2(IGHMBP2):c.388C>T (p.Arg130Ter) rs972425138
NM_002180.2(IGHMBP2):c.958C>T (p.Arg320Ter) rs773690764
NM_002296.4(LBR):c.1747C>T (p.Arg583Ter) rs1057516045
NM_002381.5(MATN3):c.59TGC[3] (p.Leu23del)
NM_002465.4(MYBPC1):c.1678G>C (p.Val560Leu) rs1555242493
NM_002470.4(MYH3):c.1581+1G>A rs1350968647
NM_002473.5(MYH9):c.2105G>A (p.Arg702His) rs80338827
NM_002473.5(MYH9):c.4271A>G (p.Asp1424Gly) rs867593888
NM_002474.3(MYH11):c.3631C>T (p.Gln1211Ter)
NM_002474.3(MYH11):c.4360G>C (p.Asp1454His) rs1057518938
NM_002547.3(OPHN1):c.746T>C (p.Leu249Pro) rs1057518963
NM_002591.4(PCK1):c.961+1G>A
NM_002637.4(PHKA1):c.678_684del (p.Val227fs)
NM_002764.3(PRPS1):c.640C>T (p.Arg214Trp) rs1556300621
NM_002860.4(ALDH18A1):c.2143G>C (p.Asp715His) rs752669339
NM_002863.5(PYGL):c.2177+2T>C
NM_002887.4(RARS1):c.1367C>T (p.Ser456Leu) rs139644798
NM_002890.3(RASA1):c.2925+1G>A
NM_002894.3(RBBP8):c.1457_1458del (p.Val486fs)
NM_002905.4(RDH5):c.208C>T (p.Arg70Trp) rs1058635
NM_002905.5(RDH5):c.248dup (p.Thr84fs)
NM_002972.4(SBF1):c.3826+1G>A rs1009209509
NM_003036.4(SKI):c.347G>A (p.Gly116Glu) rs387907303
NM_003073.5(SMARCB1):c.568C>T (p.Arg190Trp) rs1601405064
NM_003119.2(SPG7):c.1529C>T rs61755320
NM_003159.2(CDKL5):c.2797+1213C>T rs104894928
NM_003172.4(SURF1):c.751+5G>A rs781934508
NM_003193.5(TBCE):c.100+1G>A rs200356271
NM_003242.6(TGFBR2):c.1355T>C (p.Leu452Pro)
NM_003322.6(TULP1):c.1112+2T>G
NM_003322.6(TULP1):c.1258C>T (p.Arg420Cys)
NM_003322.6(TULP1):c.139G>T (p.Glu47Ter)
NM_003361.4(UMOD):c.552G>C (p.Trp184Cys)
NM_003392.4(WNT5A):c.487G>C (p.Gly163Arg) rs587784562
NM_003477.3(PDHX):c.1292T>C (p.Val431Ala)
NM_003482.3(KMT2D):c.10882C>G (p.Leu3628Val) rs773395827
NM_003482.4(KMT2D):c.10653_10654insT (p.Ala3552fs)
NM_003482.4(KMT2D):c.858dup (p.Lys287Ter) rs1592159924
NM_003494.3(DYSF):c.3113G>A rs150877497
NM_003620.4(PPM1D):c.1423del (p.Glu475fs)
NM_003688.3(CASK):c.2221+1delinsAT rs1555975523
NM_003688.3(CASK):c.2506-2A>G rs398122845
NM_003754.3(EIF3F):c.694T>G (p.Phe232Val) rs141976414
NM_003907.3(EIF2B5):c.5C>T (p.Ala2Val)
NM_003990.4(PAX2):c.213-1_225del rs1057518761
NM_003995.3(NPR2):c.2162_2172del (p.Ser721fs) rs1057518817
NM_003995.3(NPR2):c.779A>T (p.Glu260Val) rs757744435
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224
NM_004006.2(DMD):c.10247G>A (p.Trp3416Ter) rs201217593
NM_004006.2(DMD):c.357+1G>A rs1557058294
NM_004006.3(DMD):c.9980_9981insTAG (p.Arg3327_Ser3328insSer)
NM_004010.3(DMD):c.-193del rs1057518834
NM_004013.2(DMD):c.-62dup rs1556880327
NM_004056.6(CA8):c.730dup (p.Gln244fs)
NM_004183.4(BEST1):c.1444del (p.Glu482fs)
NM_004183.4(BEST1):c.302C>T (p.Pro101Leu)
NM_004208.4(AIFM1):c.1019T>C (p.Met340Thr) rs1057518895
NM_004208.4(AIFM1):c.1646C>T (p.Ala549Val) rs761953453
NM_004247.4(EFTUD2):c.2047A>T (p.Asn683Tyr) rs1057518932
NM_004260.3(RECQL4):c.2492_2493del (p.His831fs) rs752729755
NM_004260.3(RECQL4):c.3072_3073del (p.Val1026fs) rs771538008
NM_004268.5(MED17):c.1433T>G (p.Leu478Ter)
NM_004333.6(BRAF):c.755G>C (p.Arg252Pro) rs1325951163
NM_004380.3(CREBBP):c.3698G>A (p.Arg1233Lys) rs1057518844
NM_004380.3(CREBBP):c.6185_6195del (p.Ile2062fs) rs1555471098
NM_004380.3(CREBBP):c.6244C>T (p.Gln2082Ter) rs1057518789
NM_004408.4(DNM1):c.139G>A (p.Val47Met) rs869312702
NM_004415.4(DSP):c.3793G>T (p.Glu1265Ter) rs1554108172
NM_004415.4(DSP):c.621G>A (p.Trp207Ter)
NM_004415.4(DSP):c.88G>A (p.Val30Met) rs121912998
NM_004425.4(ECM1):c.142del (p.Ser48fs)
NM_004519.4(KCNQ3):c.688C>T (p.Arg230Cys) rs796052676
NM_004523.4(KIF11):c.2312_2313del (p.Lys771fs)
NM_004525.3(LRP2):c.13753C>T (p.Arg4585Ter) rs202057289
NM_004531.5(MOCS2):c.-163GTATT[1]
NM_004572.3(PKP2):c.155dup (p.Ser53fs) rs958681660
NM_004572.3(PKP2):c.269_272del (p.Leu90fs) rs397517025
NM_004586.3(RPS6KA3):c.533C>G (p.Ala178Gly) rs1057518914
NM_004646.3(NPHS1):c.1048T>C (p.Ser350Pro) rs386833863
NM_004646.4(NPHS1):c.2870T>A (p.Val957Glu)
NM_004713.6(NEMF):c.807-2A>C
NM_004793.4(LONP1):c.2014C>T (p.Arg672Cys)
NM_004870.4(MPDU1):c.514C>T (p.Gln172Ter)
NM_004928.3(CFAP410):c.218G>C (p.Arg73Pro) rs140451304
NM_004945.3(DNM2):c.1597G>A (p.Gly533Ser) rs121909093
NM_004959.5(NR5A1):c.88T>C (p.Cys30Arg) rs1564153753
NM_004975.4(KCNB1):c.935G>A (p.Arg312His) rs1555889127
NM_004984.4(KIF5A):c.611G>A (p.Arg204Gln) rs387907287
NM_004992.4(MECP2):c.1162_1170delinsACCAGCCCCC (p.Pro388fs)
NM_005022.4(PFN1):c.341T>G (p.Met114Arg) rs387907265
NM_005045.4(RELN):c.3463dup (p.Leu1155fs)
NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys) rs104894299
NM_005055.5(RAPSN):c.490C>T (p.Arg164Cys) rs104894294
NM_005120.3(MED12):c.4342G>A (p.Gly1448Arg) rs1057518921
NM_005220.3(DLX3):c.574dup (p.Glu192fs) rs1057518764
NM_005249.5(FOXG1):c.1067del (p.Phe356fs) rs1555321402
NM_005340.7(HINT1):c.110G>C (p.Arg37Pro) rs149782619
NM_005360.5(MAF):c.188C>G (p.Pro63Arg) rs1057518878
NM_005360.5(MAF):c.941A>C (p.His314Pro)
NM_005422.4(TECTA):c.6061C>T (p.Arg2021Cys)
NM_005465.7(AKT3):c.1393C>T (p.Arg465Trp) rs587776935
NM_005529.7(HSPG2):c.6437del (p.Pro2146fs)
NM_005559.4(LAMA1):c.5467C>T (p.Gln1823Ter)
NM_005559.4(LAMA1):c.876_882delinsCATTTA (p.Glu293fs)
NM_005592.4(MUSK):c.1724T>C (p.Ile575Thr) rs751889864
NM_005592.4(MUSK):c.2365G>A (p.Gly789Ser) rs1057518966
NM_005629.4(SLC6A8):c.1208C>T (p.Ala403Val) rs1557045296
NM_005630.3(SLCO2A1):c.290G>A (p.Arg97His)
NM_005633.3(SOS1):c.1867T>A (p.Phe623Ile) rs727505093
NM_005654.6(NR2F1):c.1065C>G (p.Tyr355Ter) rs763566932
NM_005654.6(NR2F1):c.463+1G>A
NM_005787.6(ALG3):c.444+2T>G
NM_005902.4(SMAD3):c.1A>T (p.Met1Leu)
NM_005902.4(SMAD3):c.281G>T (p.Trp94Leu) rs1057518977
NM_005902.4(SMAD3):c.860G>A (p.Arg287Gln) rs730880214
NM_005957.4(MTHFR):c.1286A>C (p.Glu429Ala) rs1801131
NM_005984.5(SLC25A1):c.517_526del (p.Arg173fs) rs483352911
NM_006009.4(TUBA1A):c.641G>A (p.Arg214His) rs1057517843
NM_006015.6(ARID1A):c.5090A>G (p.Asp1697Gly) rs375761808
NM_006017.3(PROM1):c.652C>T (p.Gln218Ter) rs374017889
NM_006019.4(TCIRG1):c.1213G>A (p.Gly405Arg) rs137853150
NM_006019.4(TCIRG1):c.1297C>T (p.Gln433Ter) rs777785526
NM_006031.6(PCNT):c.3423del (p.Ser1142fs)
NM_006086.4(TUBB3):c.863A>C (p.Glu288Ala)
NM_006087.4(TUBB4A):c.1021T>C (p.Phe341Leu)
NM_006158.5(NEFL):c.64C>T (p.Pro22Ser) rs28928910
NM_006269.2(RP1):c.4908C>A (p.Tyr1636Ter)
NM_006306.4(SMC1A):c.3187AAG[1] (p.Lys1064del)
NM_006363.6(SEC23B):c.689+1G>A rs398124226
NM_006363.6(SEC23B):c.716A>G (p.Asp239Gly)
NM_006364.4(SEC23A):c.1227+2T>G
NM_006420.3(ARFGEF2):c.4269del (p.Leu1424fs)
NM_006516.3(SLC2A1):c.400G>A (p.Gly134Ser) rs1057518953
NM_006517.5(SLC16A2):c.979G>A (p.Gly327Arg) rs587784383
NM_006545.5(NPRL2):c.491dup (p.Asp165fs)
NM_006586.5(CNPY3):c.734_737del (p.Gln245fs)
NM_006623.4(PHGDH):c.290+2T>C rs886041874
NM_006623.4(PHGDH):c.374C>T (p.Thr125Met) rs764618040
NM_006642.5(SDCCAG8):c.1942C>T (p.Gln648Ter)
NM_006765.4(TUSC3):c.992C>A (p.Ser331Ter) rs200667343
NM_006766.5(KAT6A):c.949C>T (p.Arg317Ter) rs1554688879
NM_006767.4(LZTR1):c.1556_1560dup (p.Phe521fs)
NM_006767.4(LZTR1):c.1889G>A (p.Arg630Gln) rs781776791
NM_006772.3(SYNGAP1):c.1697_1700dup (p.Val568fs) rs1554121671
NM_006772.3(SYNGAP1):c.2059C>T (p.Arg687Ter) rs1060503383
NM_006772.3(SYNGAP1):c.2115G>A (p.Lys705=) rs1057518786
NM_006772.3(SYNGAP1):c.3200del (p.Pro1067fs) rs1057518796
NM_006790.2(MYOT):c.164C>T (p.Ser55Phe) rs121908457
NM_006828.4(ASCC3):c.801+1G>T
NM_006859.4(LIAS):c.643del (p.Asp215fs)
NM_006912.6(RIT1):c.67A>C (p.Lys23Gln) rs869312687
NM_006915.3(RP2):c.409_411del (p.Ile137del)
NM_006920.6(SCN1A):c.264+5G>A rs794726762
NM_006922.4(SCN3A):c.2624T>C (p.Ile875Thr) rs1057518801
NM_006940.6(SOX5):c.482-2A>C rs1057518845
NM_006940.6(SOX5):c.904C>T (p.Pro302Ser) rs1057518928
NM_007217.4(PDCD10):c.474+5G>A rs1553759139
NM_007254.4(PNKP):c.1029+2T>C rs199919568
NM_007272.3(CTRC):c.699_703del (p.Ile234fs) rs1553134935
NM_007317.3(KIF22):c.443C>T (p.Pro148Leu) rs193922921
NM_007327.4(GRIN1):c.1910C>T (p.Ala637Val) rs1554770221
NM_012062.5(DNM1L):c.344C>G (p.Thr115Arg)
NM_012120.3(CD2AP):c.764dup (p.Ser256fs)
NM_012123.4(MTO1):c.1430G>A (p.Arg477His) rs201544686
NM_012123.4(MTO1):c.153_174del (p.Thr53fs)
NM_012330.4(KAT6B):c.3399_3402del (p.Arg1133fs) rs1554844486
NM_012330.4(KAT6B):c.5213C>T (p.Thr1738Ile) rs1554846212
NM_012338.4(TSPAN12):c.459dup (p.Gln154fs)
NM_013275.6(ANKRD11):c.1898_1902AAACA[1] (p.Lys635fs) rs886041125
NM_013275.6(ANKRD11):c.3019C>T (p.Arg1007Ter)
NM_013275.6(ANKRD11):c.5865del (p.Glu1955fs)
NM_013275.6(ANKRD11):c.7535G>A (p.Arg2512Gln)
NM_014112.5(TRPS1):c.1230G>A (p.Trp410Ter) rs1057518791
NM_014112.5(TRPS1):c.2794G>A (p.Ala932Thr) rs1057518972
NM_014141.6(CNTNAP2):c.1361_1362del (p.Asn454fs)
NM_014191.4(SCN8A):c.2617G>T (p.Gly873Cys)
NM_014270.5(SLC7A9):c.450_452del (p.Val151del)
NM_014297.5(ETHE1):c.586G>A (p.Asp196Asn) rs763799125
NM_014639.4(TTC37):c.1221+1G>C
NM_014780.4(CUL7):c.3041T>G (p.Leu1014Arg) rs61752334
NM_014806.5(RUSC2):c.2773C>T (p.Arg925Ter)
NM_014845.5(FIG4):c.2467C>T (p.Gln823Ter) rs745790694
NM_014874.3(MFN2):c.1085C>T (p.Thr362Met) rs387906991
NM_014874.3(MFN2):c.707C>T (p.Thr236Met) rs773159585
NM_014906.5(PPM1E):c.*1892T>A
NM_014946.3(SPAST):c.1670C>G (p.Ala557Gly) rs1057518873
NM_014956.5(CEP164):c.276T>G (p.Tyr92Ter)
NM_015100.4(POGZ):c.402_409dup (p.His137fs) rs1057518799
NM_015107.3(PHF8):c.2455del (p.Leu819fs)
NM_015166.3(MLC1):c.178-10T>A rs80358243
NM_015166.3(MLC1):c.594_597del (p.Ser197_Tyr198insTer) rs267607236
NM_015166.4(MLC1):c.423+1G>A
NM_015214.3(DDHD2):c.1978G>C (p.Asp660His) rs375168720
NM_015272.5(RPGRIP1L):c.1804C>T (p.Arg602Ter)
NM_015272.5(RPGRIP1L):c.2560C>T (p.Arg854Ter)
NM_015272.5(RPGRIP1L):c.751C>T (p.Arg251Ter)
NM_015311.3(OBSL1):c.2635del (p.Cys879fs)
NM_015311.3(OBSL1):c.690dup (p.Glu231fs) rs1553538488
NM_015312.3(KIAA1109):c.1156C>T (p.Arg386Ter)
NM_015335.5(MED13L):c.745A>T (p.Lys249Ter)
NM_015346.4(ZFYVE26):c.4153C>T (p.Gln1385Ter)
NM_015346.4(ZFYVE26):c.6278dup (p.Phe2094fs)
NM_015559.3(SETBP1):c.2614G>A (p.Gly872Arg) rs1555706928
NM_015560.2(OPA1):c.1146A>G (p.Ile382Met) rs143319805
NM_015629.4(PRPF31):c.757G>A (p.Gly253Arg)
NM_015631.6(TCTN3):c.1760C>A (p.Ser587Ter)
NM_015665.6(AAAS):c.787T>C (p.Ser263Pro) rs121918550
NM_016032.4(ZDHHC9):c.442C>T (p.Arg148Trp) rs137852214
NM_016032.4(ZDHHC9):c.852dup (p.Glu285Ter)
NM_016038.4(SBDS):c.184A>T (p.Lys62Ter) rs120074160
NM_016239.4(MYO15A):c.2677C>T (p.Arg893Ter)
NM_016239.4(MYO15A):c.8707C>T (p.Arg2903Ter) rs768257384
NM_016335.5(PRODH):c.1292G>A (p.Arg431His) rs2904552
NM_016360.4(TACO1):c.583del (p.Asp195fs)
NM_016373.4(WWOX):c.183C>A (p.Tyr61Ter) rs759766243
NM_016373.4(WWOX):c.918del (p.Glu306fs) rs1057518795
NM_016529.6(ATP8A2):c.1058-2A>G
NM_016529.6(ATP8A2):c.210del (p.Asp70fs)
NM_016729.3(FOLR1):c.287G>A (p.Cys96Tyr) rs1057518816
NM_016955.4(SEPSECS):c.388+5G>A rs1057518887
NM_017519.2(ARID1B):c.3406del (p.Leu1136fs) rs1057518918
NM_017780.4(CHD7):c.2867C>A (p.Ser956Ter) rs367557471
NM_017946.4(FKBP14):c.362dup (p.Glu122fs) rs542489955
NM_017950.4(CCDC40):c.2832+297G>T
NM_017950.4(CCDC40):c.2832+395dup
NM_017950.4(CCDC40):c.298del (p.Thr100fs)
NM_018105.3(THAP1):c.387_399del (p.Ser130fs)
NM_018480.5(TMEM126B):c.635G>T (p.Gly212Val) rs141542003
NM_018486.3(HDAC8):c.584T>G (p.Val195Gly) rs1556009247
NM_018972.4(GDAP1):c.358C>T (p.Arg120Trp) rs104894078
NM_018972.4(GDAP1):c.715C>T (p.Leu239Phe) rs104894080
NM_019066.5(MAGEL2):c.2945_2946del (p.Leu981_Ser982insTer)
NM_019616.4(F7):c.1325del (p.Pro442fs) rs750457207
NM_019616.4(F7):c.995C>T (p.Ala332Val) rs36209567
NM_019892.6(INPP5E):c.1897C>T (p.Gln633Ter)
NM_020247.5(COQ8A):c.1383_1384insTTTGG (p.Glu462fs)
NM_020247.5(COQ8A):c.1651G>A (p.Glu551Lys) rs119468004
NM_020366.3(RPGRIP1):c.2567_2568dup (p.Val857fs) rs1555302200
NM_020374.4(C12orf4):c.1200_1201insGT (p.Lys401fs)
NM_020435.4(GJC2):c.550_566del (p.Ala184fs)
NM_020451.3(SELENON):c.538-1G>A
NM_020458.4(TTC7A):c.764+5G>A
NM_020533.3(MCOLN1):c.378C>G (p.Tyr126Ter) rs1057518782
NM_020533.3(MCOLN1):c.777+1G>C rs1057518781
NM_020699.4(GATAD2B):c.1446G>T (p.Gln482His)
NM_020745.4(AARS2):c.459G>A (p.Trp153Ter)
NM_020745.4(AARS2):c.595C>T (p.Arg199Cys) rs200105202
NM_020919.4(ALS2):c.2479A>T (p.Thr827Ser) rs202219507
NM_020919.4(ALS2):c.4022G>A (p.Arg1341His) rs761291489
NM_020921.4(NIN):c.6079-1686G>A
NM_021625.5(TRPV4):c.1771T>A (p.Tyr591Asn)
NM_021728.4(OTX2):c.191_193delinsGG (p.Leu64fs) rs1555350397
NM_021830.5(TWNK):c.1000C>T (p.Arg334Ter)
NM_021830.5(TWNK):c.1121G>A (p.Arg374Gln) rs1554887097
NM_021971.4(GMPPB):c.684dup (p.Met229fs)
NM_021971.4(GMPPB):c.79G>C (p.Asp27His) rs142336618
NM_022042.4(SLC26A1):c.1073C>T (p.Ser358Leu) rs148832260
NM_022042.4(SLC26A1):c.554C>T (p.Thr185Met) rs139024319
NM_022168.4(IFIH1):c.2336G>A (p.Arg779His) rs587777446
NM_022455.4(NSD1):c.6050G>A (p.Arg2017Gln) rs587784177
NM_022489.4(INF2):c.658G>A (p.Glu220Lys) rs530391015
NM_023035.3(CACNA1A):c.4186G>A (p.Val1396Met) rs794727411
NM_023067.4(FOXL2):c.560G>A (p.Gly187Asp) rs121908359
NM_023073.3(CPLANE1):c.7555del (p.Ser2519fs)
NM_024079.5(ALG8):c.1533T>A (p.Tyr511Ter)
NM_024312.5(GNPTAB):c.1514G>A (p.Cys505Tyr) rs281864980
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679
NM_024596.5(MCPH1):c.2002del (p.Asp668fs)
NM_024666.5(AAGAB):c.451+1G>T rs1057518846
NM_024741.3(ZNF408):c.943C>T (p.Gln315Ter)
NM_024757.5(EHMT1):c.1311G>A (p.Trp437Ter)
NM_024757.5(EHMT1):c.1647+2T>C rs1057518913
NM_024757.5(EHMT1):c.736C>T (p.Arg246Ter)
NM_024809.5(TCTN2):c.988C>T (p.Arg330Ter)
NM_024996.5(GFM1):c.829dup (p.Ser277fs) rs771865940
NM_025077.4(TOE1):c.913-2A>G
NM_025114.4(CEP290):c.1514_1515del (p.Glu505fs)
NM_025114.4(CEP290):c.2991+1655A>G rs281865192
NM_025114.4(CEP290):c.3894dup (p.Lys1299Ter)
NM_025114.4(CEP290):c.5710-3C>G rs1555202126
NM_025137.4(SPG11):c.3785G>T (p.Gly1262Val) rs1057518874
NM_025137.4(SPG11):c.4877_4878del (p.Phe1626fs)
NM_025137.4(SPG11):c.5381T>C (p.Leu1794Pro) rs201689565
NM_025137.4(SPG11):c.6409C>T (p.Arg2137Ter) rs769898852
NM_025216.3(WNT10A):c.383G>A (p.Arg128Gln) rs121908121
NM_030582.4(COL18A1):c.1469-2A>G rs765919785
NM_030582.4(COL18A1):c.3559G>A (p.Gly1187Ser) rs1057518766
NM_030582.4(COL18A1):c.3979C>T (p.Arg1327Ter) rs1057518802
NM_030632.3(ASXL3):c.3785_3786del (p.Ser1262fs)
NM_030962.3(SBF2):c.4331_4332del (p.Lys1444fs)
NM_031229.4(RBCK1):c.582+1G>A
NM_031307.4(PUS3):c.1048C>T (p.Gln350Ter)
NM_031307.4(PUS3):c.366_367del (p.Ala123fs)
NM_031483.7(ITCH):c.1952+3_1952+6del
NM_032040.5(CCDC8):c.203_204del (p.Gln68fs)
NM_032040.5(CCDC8):c.817_829del (p.Ser273fs)
NM_032551.5(KISS1R):c.305T>C (p.Leu102Pro) rs104894703
NM_032634.4(PIGO):c.1176_1186del (p.Glu392fs)
NM_032667.6(BSCL2):c.782del (p.Gly261fs)
NM_032682.6(FOXP1):c.1396C>G (p.Pro466Ala) rs1057518926
NM_032801.5(JAM3):c.2T>A (p.Met1Lys)
NM_033028.5(BBS4):c.289_291delinsTG (p.Ser97fs)
NM_033100.4(CDHR1):c.783G>A (p.Pro261=) rs147346345
NM_033360.4(KRAS):c.*12A>G rs104894360
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp) rs104886142
NM_033380.3(COL4A5):c.1997G>A (p.Gly666Asp) rs104886153
NM_033380.3(COL4A5):c.2116A>G (p.Ile706Val)
NM_033380.3(COL4A5):c.287G>T (p.Gly96Val)
NM_033380.3(COL4A5):c.4906dup (p.Ile1636fs) rs1556463583
NM_033380.3(COL4A5):c.574G>A (p.Gly192Arg) rs104886060
NM_033380.3(COL4A5):c.956G>A (p.Gly319Asp) rs104886086
NM_033629.6(TREX1):c.1A>G (p.Met1Val)
NM_052854.4(CREB3L1):c.774del (p.Pro259fs)
NM_052859.4(RFT1):c.740dup (p.Lys248fs)
NM_054012.4(ASS1):c.174+1G>T rs748264993
NM_054027.6(ANKH):c.1124_1126del (p.Ser375del) rs121908406
NM_080680.3(COL11A2):c.4430G>T (p.Gly1477Val) rs745434198
NM_130837.3(OPA1):c.2489G>A (p.Trp830Ter)
NM_130839.5(UBE3A):c.2504_2516dup (p.Cys840fs) rs1057518777
NM_133433.4(NIPBL):c.1811_1812del (p.Lys603_Ser604insTer) rs1057518944
NM_133433.4(NIPBL):c.6242G>C (p.Gly2081Ala) rs587784000
NM_138361.5(LRSAM1):c.1102C>T (p.Gln368Ter)
NM_138694.4(PKHD1):c.2854G>A (p.Gly952Arg) rs773136605
NM_138694.4(PKHD1):c.429T>G (p.Tyr143Ter)
NM_138694.4(PKHD1):c.8020_8021del (p.Leu2674fs)
NM_138711.6(PPARG):c.46_58del (p.Ser17fs)
NM_139058.3(ARX):c.1575_1578AGAC[1] (p.Arg527fs) rs1057518794
NM_139315.3(TAF6):c.212T>C (p.Ile71Thr) rs374993554
NM_144596.4(TTC8):c.489G>A (p.Thr163=) rs119103286
NM_144596.4(TTC8):c.915del (p.Met305fs)
NM_144631.6(ZNF513):c.279_283del (p.Ala94fs)
NM_145068.4(TRPV3):c.2017C>T (p.Leu673Phe) rs786205868
NM_145691.4(ATPAF2):c.98del (p.Ile33fs)
NM_147127.5(EVC2):c.1882G>T (p.Glu628Ter)
NM_152296.5(ATP1A3):c.2324C>T (p.Pro775Leu) rs886041396
NM_152296.5(ATP1A3):c.958G>C (p.Ala320Pro) rs879255368
NM_152416.4(NDUFAF6):c.841C>G (p.Pro281Ala) rs1224421127
NM_152419.3(HGSNAT):c.272del (p.Pro91fs)
NM_152443.3(RDH12):c.377C>A (p.Ala126Glu)
NM_152618.3(BBS12):c.1063C>T (p.Arg355Ter) rs121918327
NM_153704.6(TMEM67):c.1321C>T (p.Arg441Cys) rs752362727
NM_153704.6(TMEM67):c.1843T>C (p.Cys615Arg) rs201893408
NM_153704.6(TMEM67):c.2418_2423dup (p.805_806MN[3]) rs1554558365
NM_153741.2(DPM3):c.137T>A (p.Leu46Gln) rs1057518905
NM_153816.6(SNX14):c.1300C>T (p.Gln434Ter)
NM_170707.4(LMNA):c.130G>T (p.Val44Phe) rs1057518971
NM_170784.2(MKKS):c.956_957CT[1] (p.Leu320fs) rs770908659
NM_172056.2(KCNH2):c.1682C>T (p.Ala561Val) rs121912504
NM_172107.4(KCNQ2):c.1067T>G (p.Leu356Arg) rs1057518772
NM_177402.5(SYT2):c.1084_1089del (p.Tyr362_Asp363del) rs1057518805
NM_178857.6(RP1L1):c.4004_4005insT (p.Val1336fs) rs781490139
NM_181523.3(PIK3R1):c.1945C>T (p.Arg649Trp) rs397515453
NM_181789.4(GLDN):c.1305G>A (p.Trp435Ter) rs775011495
NM_181798.1(KCNQ1):c.151G>A (p.Ala51Thr) rs120074177
NM_181882.3(PRX):c.1561C>T (p.Gln521Ter)
NM_182746.3(MCM4):c.220C>T (p.Gln74Ter)
NM_182760.4(SUMF1):c.836C>T (p.Ala279Val) rs137852849
NM_182916.3(TRNT1):c.608G>A (p.Arg203Lys)
NM_182925.5(FLT4):c.3410C>T (p.Pro1137Leu)
NM_182943.3(PLOD2):c.1361G>T (p.Gly454Val) rs778360818
NM_182943.3(PLOD2):c.2038C>T (p.Arg680Ter) rs780770356
NM_182943.3(PLOD2):c.351dup (p.Phe118fs)
NM_182961.4(SYNE1):c.12009dup (p.Gln4004fs)
NM_182961.4(SYNE1):c.888+2T>A
NM_182977.3(NNT):c.1575dup (p.Pro526fs)
NM_194248.3(OTOF):c.2677-2A>G rs1057518840
NM_194318.4(B3GLCT):c.1177G>C (p.Gly393Arg)
NM_194456.1(KRIT1):c.990-1G>A rs1554518790
NM_198525.3(KIF7):c.434A>C (p.Tyr145Ser) rs758361736
NM_198576.4(AGRN):c.1177+4_1177+50del
NM_201253.3(CRB1):c.2708_2709del (p.His903fs)
NM_201253.3(CRB1):c.3878G>A (p.Trp1293Ter)
NM_201548.5(CERKL):c.677+3A>G rs1553515435
NM_206933.3(USH2A):c.13335_13347delinsCTTG (p.Glu4445_Ser4449delinsAspLeu) rs1553252388
NM_206933.3(USH2A):c.6722C>A (p.Pro2241His) rs1057518826
NM_206933.4(USH2A):c.13599_13612del (p.Gly4534fs)
NM_206933.4(USH2A):c.14287G>A (p.Gly4763Arg) rs397517990
NM_207346.3(TSEN54):c.1216dup (p.Thr406fs)
NM_207346.3(TSEN54):c.736C>T (p.Gln246Ter) rs113994153
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser) rs113994152
NM_207352.4(CYP4V2):c.1523G>A (p.Arg508His) rs119103284
NM_213599.2(ANO5):c.1664G>T (p.Ser555Ile) rs375014127
NM_213599.2(ANO5):c.2029+2dup rs1057518855
NM_213599.3(ANO5):c.2395C>T (p.Arg799Ter)
NM_213607.3(CCDC103):c.461A>C (p.His154Pro) rs145457535

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