ClinVar Miner

List of variants reported as pathogenic by Athena Diagnostics Inc

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2135
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HGVS dbSNP gnomAD frequency
NM_014625.4(NPHS2):c.686G>A (p.Arg229Gln) rs61747728 0.02796
NM_000500.9(CYP21A2):c.188A>T (p.His63Leu) rs9378252 0.00995
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622 0.00966
NM_000344.4(SMN1):c.5C>G (p.Ala2Gly) rs1554066397 0.00571
NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter) rs55960271 0.00561
NM_000500.9(CYP21A2):c.1360C>T (p.Pro454Ser) rs6445 0.00530
NM_000371.4(TTR):c.424G>A (p.Val142Ile) rs76992529 0.00501
NM_000110.4(DPYD):c.1905+1G>A rs3918290 0.00474
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) rs61755320 0.00361
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224 0.00354
NM_000500.7(CYP21A2):c.955C>T (p.Gln319Ter) rs7755898 0.00339
NM_000406.3(GNRHR):c.317A>G (p.Gln106Arg) rs104893836 0.00234
NM_004562.3(PRKN):c.823C>T (p.Arg275Trp) rs34424986 0.00226
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00212
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_005055.5(RAPSN):c.264C>A (p.Asn88Lys) rs104894299 0.00149
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679 0.00141
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu) rs74315294 0.00134
NM_000454.5(SOD1):c.272A>C (p.Asp91Ala) rs80265967 0.00126
NM_000500.9(CYP21A2):c.518T>A (p.Ile173Asn) rs6475 0.00117
NM_014845.6(FIG4):c.122T>C (p.Ile41Thr) rs121908287 0.00117
NM_002491.3(NDUFB3):c.64T>C (p.Trp22Arg) rs142609245 0.00116
NM_000383.4(AIRE):c.769C>T (p.Arg257Ter) rs121434254 0.00105
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser) rs141659620 0.00103
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile) rs28937900 0.00103
NM_213599.3(ANO5):c.692G>T (p.Gly231Val) rs137854523 0.00098
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) rs121918054 0.00096
NM_015506.3(MMACHC):c.271dup (p.Arg91fs) rs398124292 0.00093
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser) rs113994097 0.00081
NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu) rs149729531 0.00075
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr) rs113994095 0.00068
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter) rs80338933 0.00067
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro) rs80338945 0.00066
NM_004004.6(GJB2):c.167del (p.Leu56fs) rs80338942 0.00058
NM_000500.9(CYP21A2):c.92C>T (p.Pro31Leu) rs9378251 0.00055
NM_014625.4(NPHS2):c.413G>A (p.Arg138Gln) rs74315342 0.00054
NM_004820.5(CYP7B1):c.1456C>T (p.Arg486Cys) rs116171274 0.00051
NM_213599.3(ANO5):c.2272C>T (p.Arg758Cys) rs137854529 0.00049
NM_000500.9(CYP21A2):c.1447C>T (p.Pro483Ser) rs776989258 0.00047
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) rs76434661 0.00047
NM_000023.4(SGCA):c.229C>T (p.Arg77Cys) rs28933693 0.00046
NM_001130987.2(DYSF):c.2697+1G>A rs140108514 0.00046
NM_001195248.2(APTX):c.837G>A (p.Trp279Ter) rs104894103 0.00044
NM_001126108.2(SLC12A3):c.2221G>A (p.Gly741Arg) rs138977195 0.00041
NM_000083.3(CLCN1):c.1453A>G (p.Met485Val) rs146457619 0.00039
NM_000091.5(COL4A3):c.4981C>T (p.Arg1661Cys) rs201697532 0.00039
NM_000310.4(PPT1):c.451C>T (p.Arg151Ter) rs137852700 0.00038
NM_000487.6(ARSA):c.1283C>T (p.Pro428Leu) rs28940893 0.00037
NM_198578.4(LRRK2):c.6055G>A (p.Gly2019Ser) rs34637584 0.00036
NM_000497.4(CYP11B1):c.1066C>T (p.Gln356Ter) rs146124466 0.00032
NM_014053.4(FLVCR1):c.1092+5G>A rs556788423 0.00032
NM_020451.3(SELENON):c.943G>A (p.Gly315Ser) rs121908188 0.00030
NM_033629.6(TREX1):c.341G>A (p.Arg114His) rs72556554 0.00030
NM_000487.6(ARSA):c.542T>G (p.Ile181Ser) rs74315457 0.00029
NM_000083.3(CLCN1):c.1238T>G (p.Phe413Cys) rs121912799 0.00028
NM_002693.3(POLG):c.2542G>A (p.Gly848Ser) rs113994098 0.00028
NM_000100.4(CSTB):c.67-1G>C rs147484110 0.00027
NM_003907.3(EIF2B5):c.338G>A (p.Arg113His) rs113994049 0.00027
NM_000391.4(TPP1):c.622C>T (p.Arg208Ter) rs119455955 0.00025
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp) rs61750420 0.00025
NM_000026.4(ADSL):c.1277G>A (p.Arg426His) rs119450941 0.00024
NM_001126108.2(SLC12A3):c.2856+1G>T rs199974259 0.00024
NM_020975.6(RET):c.2410G>A (p.Val804Met) rs79658334 0.00022
NM_000022.4(ADA):c.986C>T (p.Ala329Val) rs121908715 0.00021
NM_000051.4(ATM):c.5908C>T (p.Gln1970Ter) rs587781722 0.00021
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp) rs80338948 0.00021
NM_000023.4(SGCA):c.739G>A (p.Val247Met) rs143570936 0.00019
NM_000083.3(CLCN1):c.180+3A>T rs202217420 0.00019
NM_000232.5(SGCB):c.341C>T (p.Ser114Phe) rs150518260 0.00019
NM_000352.6(ABCC8):c.3989-9G>A rs151344623 0.00019
NM_000070.3(CAPN3):c.2393C>A (p.Ala798Glu) rs149095128 0.00018
NM_004004.6(GJB2):c.-23+1G>A rs80338940 0.00017
NM_004004.6(GJB2):c.94C>T (p.Arg32Cys) rs371024165 0.00017
NM_000070.3(CAPN3):c.1466G>A (p.Arg489Gln) rs147764579 0.00016
NM_000231.3(SGCG):c.787G>A (p.Glu263Lys) rs104894423 0.00016
NM_004004.6(GJB2):c.617A>G (p.Asn206Ser) rs111033294 0.00016
NM_004562.3(PRKN):c.337_376del (p.Pro113fs) rs771529549 0.00016
NM_022124.6(CDH23):c.5237G>A (p.Arg1746Gln) rs111033270 0.00016
NM_000070.3(CAPN3):c.1468C>T (p.Arg490Trp) rs141656719 0.00015
NM_003119.4(SPG7):c.1715C>T (p.Ala572Val) rs72547551 0.00015
NM_018136.5(ASPM):c.9178C>T (p.Gln3060Ter) rs137852994 0.00015
NM_018972.4(GDAP1):c.487C>T (p.Gln163Ter) rs104894077 0.00015
NM_018972.4(GDAP1):c.692C>T (p.Pro231Leu) rs121908114 0.00015
NM_000070.3(CAPN3):c.2306G>A (p.Arg769Gln) rs80338802 0.00014
NM_001126108.2(SLC12A3):c.1928C>T (p.Pro643Leu) rs140012781 0.00014
NM_003119.4(SPG7):c.233T>A (p.Leu78Ter) rs121918358 0.00014
NM_014049.5(ACAD9):c.1552C>T (p.Arg518Cys) rs150283105 0.00014
NM_213599.3(ANO5):c.2498T>A (p.Met833Lys) rs142073798 0.00014
NM_000070.3(CAPN3):c.1319G>A (p.Arg440Gln) rs376107921 0.00013
NM_001126128.2(PROK2):c.163del (p.Ser54_Ile55insTer) rs554675432 0.00013
NM_004004.6(GJB2):c.139G>T (p.Glu47Ter) rs104894398 0.00013
NM_004562.3(PRKN):c.1289G>A (p.Gly430Asp) rs191486604 0.00013
NM_000021.4(PSEN1):c.617G>C (p.Gly206Ala) rs63750082 0.00012
NM_144988.4(ALG14):c.220G>A (p.Asp74Asn) rs769114543 0.00012
NM_000288.4(PEX7):c.903+1G>C rs148591292 0.00011
NM_000492.3(CFTR):c.3718-2477C>T rs75039782 0.00011
NM_005476.7(GNE):c.1892C>T (p.Ala631Val) rs62541771 0.00011
NM_005912.3(MC4R):c.806T>A (p.Ile269Asn) rs79783591 0.00011
NM_014625.4(NPHS2):c.779T>A (p.Val260Glu) rs775006954 0.00011
NM_017866.6(TMEM70):c.317-2A>G rs183973249 0.00011
NM_000370.3(TTPA):c.513_514insTT (p.Thr172fs) rs397515379 0.00010
NM_000435.3(NOTCH3):c.1630C>T (p.Arg544Cys) rs201118034 0.00010
NM_003119.4(SPG7):c.1672A>T (p.Lys558Ter) rs369227537 0.00010
NM_004646.4(NPHS1):c.3478C>T (p.Arg1160Ter) rs267606919 0.00010
NM_031885.5(BBS2):c.1895G>C (p.Arg632Pro) rs138043021 0.00010
NM_213599.3(ANO5):c.1733T>C (p.Phe578Ser) rs137854526 0.00010
NM_001126108.2(SLC12A3):c.1315G>A (p.Gly439Ser) rs759377924 0.00009
NM_001126108.2(SLC12A3):c.1946C>T (p.Thr649Met) rs145337602 0.00009
NM_004646.4(NPHS1):c.2335-1G>A rs150038620 0.00009
NM_014845.6(FIG4):c.1141C>T (p.Arg381Ter) rs377357931 0.00009
NM_198586.3(NHLRC1):c.205C>G (p.Pro69Ala) rs28940576 0.00009
NM_213599.3(ANO5):c.1898+1G>A rs142027093 0.00009
NM_001126108.2(SLC12A3):c.1664C>T (p.Ser555Leu) rs148038173 0.00008
NM_001126108.2(SLC12A3):c.2186G>T (p.Gly729Val) rs373901523 0.00008
NM_001126108.2(SLC12A3):c.2864G>A (p.Arg955Gln) rs202114767 0.00008
NM_001126108.2(SLC12A3):c.2954G>A (p.Cys985Tyr) rs199849117 0.00008
NM_001849.4(COL6A2):c.1970-9G>A rs747900252 0.00008
NM_002180.3(IGHMBP2):c.1082T>C (p.Leu361Pro) rs201060167 0.00008
NM_002693.3(POLG):c.2740A>C (p.Thr914Pro) rs139590686 0.00008
NM_004004.6(GJB2):c.283G>A (p.Val95Met) rs111033299 0.00008
NM_004004.6(GJB2):c.370C>T (p.Gln124Ter) rs397516874 0.00008
NM_004562.3(PRKN):c.2T>C (p.Met1Thr) rs771586218 0.00008
NM_004820.5(CYP7B1):c.825T>A (p.Tyr275Ter) rs121908613 0.00008
NM_005912.3(MC4R):c.380C>T (p.Ser127Leu) rs13447331 0.00008
NM_000500.9(CYP21A2):c.1069C>T (p.Arg357Trp) rs7769409 0.00007
NM_004320.6(ATP2A1):c.100G>T (p.Glu34Ter) rs141559558 0.00007
NM_006005.3(WFS1):c.2171C>T (p.Pro724Leu) rs28937890 0.00007
NM_000051.4(ATM):c.7913G>A (p.Trp2638Ter) rs377349459 0.00006
NM_000070.3(CAPN3):c.1250C>T (p.Thr417Met) rs200646556 0.00006
NM_000070.3(CAPN3):c.1435A>G (p.Ser479Gly) rs201736037 0.00006
NM_000070.3(CAPN3):c.499-1G>A rs863224964 0.00006
NM_000085.5(CLCNKB):c.1783C>T (p.Arg595Ter) rs370221310 0.00006
NM_000144.5(FXN):c.467T>C (p.Leu156Pro) rs143340609 0.00006
NM_000486.6(AQP2):c.211G>A (p.Val71Met) rs149659001 0.00006
NM_000540.3(RYR1):c.7300G>A (p.Gly2434Arg) rs121918593 0.00006
NM_002693.3(POLG):c.2554C>T (p.Arg852Cys) rs144500145 0.00006
NM_004820.5(CYP7B1):c.1250G>A (p.Arg417His) rs121908611 0.00006
NM_014845.6(FIG4):c.793C>T (p.Arg265Ter) rs774294963 0.00006
NM_138691.3(TMC1):c.1165C>T (p.Arg389Ter) rs151001642 0.00006
NM_175914.5(HNF4A):c.340C>T (p.Arg114Trp) rs137853336 0.00006
NM_181882.3(PRX):c.2145T>A (p.Cys715Ter) rs104894707 0.00006
NM_213599.3(ANO5):c.41-1G>A rs398124625 0.00006
NM_000166.6(GJB1):c.319C>T (p.Arg107Trp) rs863224973 0.00005
NM_000500.9(CYP21A2):c.1279C>T (p.Arg427Cys) rs1370167869 0.00005
NM_001126108.2(SLC12A3):c.2938G>A (p.Gly980Arg) rs34803727 0.00005
NM_001130987.2(DYSF):c.6096dup (p.Glu2033fs) rs398123799 0.00005
NM_002693.3(POLG):c.3104+1G>A rs138917386 0.00005
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp) rs104886142 0.00005
NM_000021.4(PSEN1):c.236C>T (p.Ala79Val) rs63749824 0.00004
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala) rs587782652 0.00004
NM_000070.3(CAPN3):c.1714C>T (p.Arg572Trp) rs863224959 0.00004
NM_000070.3(CAPN3):c.1817C>T (p.Ser606Leu) rs199806879 0.00004
NM_000070.3(CAPN3):c.245C>T (p.Pro82Leu) rs886042478 0.00004
NM_000083.3(CLCN1):c.920T>C (p.Phe307Ser) rs80356701 0.00004
NM_000085.5(CLCNKB):c.1312C>T (p.Arg438Cys) rs121909133 0.00004
NM_000091.5(COL4A3):c.4819G>T (p.Glu1607Ter) rs764046610 0.00004
NM_000144.5(FXN):c.389G>T (p.Gly130Val) rs104894107 0.00004
NM_000157.4(GBA1):c.887G>A (p.Arg296Gln) rs78973108 0.00004
NM_000198.4(HSD3B2):c.518T>G (p.Leu173Arg) rs762479018 0.00004
NM_000370.3(TTPA):c.400C>T (p.Arg134Ter) rs121917851 0.00004
NM_000371.4(TTR):c.148G>A (p.Val50Met) rs28933979 0.00004
NM_000371.4(TTR):c.262A>T (p.Ile88Leu) rs121918085 0.00004
NM_000454.5(SOD1):c.14C>T (p.Ala5Val) rs121912442 0.00004
NM_000500.9(CYP21A2):c.1273G>A (p.Gly425Ser) rs72552758 0.00004
NM_000530.8(MPZ):c.434A>C (p.Tyr145Ser) rs121913603 0.00004
NM_001126108.2(SLC12A3):c.179C>T (p.Thr60Met) rs371443644 0.00004
NM_001126108.2(SLC12A3):c.626G>A (p.Arg209Gln) rs758035631 0.00004
NM_001130987.2(DYSF):c.4307G>A (p.Gly1436Asp) rs398123787 0.00004
NM_001267550.2(TTN):c.67495C>T (p.Arg22499Ter) rs574660186 0.00004
NM_002693.3(POLG):c.3104+3A>T rs778573169 0.00004
NM_003119.4(SPG7):c.1948G>A (p.Asp650Asn) rs769602042 0.00004
NM_003119.4(SPG7):c.2096dup (p.Met699fs) rs747503698 0.00004
NM_005476.7(GNE):c.647T>C (p.Val216Ala) rs779694939 0.00004
NM_014363.6(SACS):c.2439_2440del (p.Val815fs) rs775059063 0.00004
NM_014625.4(NPHS2):c.851C>T (p.Ala284Val) rs780761368 0.00004
NM_018972.4(GDAP1):c.715C>T (p.Leu239Phe) rs104894080 0.00004
NM_025137.4(SPG11):c.1348dup (p.Ile450fs) rs312262725 0.00004
NM_032409.3(PINK1):c.1040T>C (p.Leu347Pro) rs28940285 0.00004
NM_138691.3(TMC1):c.1676G>A (p.Trp559Ter) rs876657728 0.00004
NM_213599.3(ANO5):c.1210C>T (p.Arg404Ter) rs566415362 0.00004
NM_000051.4(ATM):c.2250G>A (p.Lys750=) rs1137887 0.00003
NM_000070.3(CAPN3):c.1477C>T (p.Arg493Trp) rs557164942 0.00003
NM_000070.3(CAPN3):c.1939G>T (p.Glu647Ter) rs863224960 0.00003
NM_000070.3(CAPN3):c.802-9G>A rs761211705 0.00003
NM_000083.3(CLCN1):c.1013G>A (p.Arg338Gln) rs80356703 0.00003
NM_000083.3(CLCN1):c.1283T>C (p.Phe428Ser) rs774843953 0.00003
NM_000083.3(CLCN1):c.2518_2519del (p.Leu840fs) rs780534566 0.00003
NM_000083.3(CLCN1):c.2596-1G>A rs771721648 0.00003
NM_000083.3(CLCN1):c.854G>A (p.Gly285Glu) rs150885084 0.00003
NM_000091.5(COL4A3):c.4825C>T (p.Arg1609Ter) rs756231749 0.00003
NM_000162.5(GCK):c.106C>T (p.Arg36Trp) rs762263694 0.00003
NM_000435.3(NOTCH3):c.3427C>T (p.Arg1143Cys) rs60373464 0.00003
NM_000486.6(AQP2):c.277C>T (p.Gln93Ter) rs770810694 0.00003
NM_000527.5(LDLR):c.682G>T (p.Glu228Ter) rs121908029 0.00003
NM_000548.5(TSC2):c.4375C>T (p.Arg1459Ter) rs45517340 0.00003
NM_001037.5(SCN1B):c.363C>G (p.Cys121Trp) rs104894718 0.00003
NM_001126108.2(SLC12A3):c.1925G>A (p.Arg642His) rs147901432 0.00003
NM_001126108.2(SLC12A3):c.2505G>A (p.Trp835Ter) rs1366655422 0.00003
NM_002437.5(MPV17):c.149G>A (p.Arg50Gln) rs121909721 0.00003
NM_004004.6(GJB2):c.169C>T (p.Gln57Ter) rs111033297 0.00003
NM_004004.6(GJB2):c.299_300del (p.His100fs) rs111033204 0.00003
NM_004004.6(GJB2):c.2T>C (p.Met1Thr) rs371086981 0.00003
NM_004004.6(GJB2):c.551G>C (p.Arg184Pro) rs80338950 0.00003
NM_004006.3(DMD):c.1812+1G>A rs373286166 0.00003
NM_004646.4(NPHS1):c.1701C>A (p.Cys567Ter) rs386833887 0.00003
NM_014363.6(SACS):c.9508C>T (p.Arg3170Ter) rs202199411 0.00003
NM_014625.4(NPHS2):c.643C>T (p.Gln215Ter) rs778055996 0.00003
NM_014625.4(NPHS2):c.714G>T (p.Arg238Ser) rs748812981 0.00003
NM_014625.4(NPHS2):c.948del (p.Ala317fs) rs775170915 0.00003
NM_014874.4(MFN2):c.1085C>T (p.Thr362Met) rs387906991 0.00003
NM_018129.4(PNPO):c.686G>A (p.Arg229Gln) rs773450573 0.00003
NM_024577.4(SH3TC2):c.1972C>T (p.Arg658Cys) rs80338926 0.00003
NM_024577.4(SH3TC2):c.3325C>T (p.Arg1109Ter) rs80338934 0.00003
NM_025137.4(SPG11):c.6100C>T (p.Arg2034Ter) rs118203963 0.00003
NM_032119.4(ADGRV1):c.17314C>T (p.Arg5772Ter) rs749956288 0.00003
NM_170707.4(LMNA):c.892C>T (p.Arg298Cys) rs59885338 0.00003
NM_181882.3(PRX):c.2857C>T (p.Arg953Ter) rs104894714 0.00003
NM_198578.4(LRRK2):c.4321C>T (p.Arg1441Cys) rs33939927 0.00003
NM_213599.3(ANO5):c.762+1G>A rs372221490 0.00003
NM_000023.4(SGCA):c.100C>T (p.Arg34Cys) rs758647756 0.00002
NM_000051.4(ATM):c.9022C>T (p.Arg3008Cys) rs587782292 0.00002
NM_000070.3(CAPN3):c.2242C>T (p.Arg748Ter) rs768090444 0.00002
NM_000070.3(CAPN3):c.2243G>A (p.Arg748Gln) rs587780290 0.00002
NM_000070.3(CAPN3):c.566T>C (p.Leu189Pro) rs758795961 0.00002
NM_000083.3(CLCN1):c.774+1G>A rs776073429 0.00002
NM_000083.3(CLCN1):c.803C>T (p.Thr268Met) rs80356687 0.00002
NM_000083.3(CLCN1):c.892G>A (p.Ala298Thr) rs764100025 0.00002
NM_000083.3(CLCN1):c.979G>A (p.Val327Ile) rs774396430 0.00002
NM_000092.5(COL4A4):c.1396G>A (p.Gly466Arg) rs201859109 0.00002
NM_000092.5(COL4A4):c.2878G>A (p.Gly960Arg) rs769783985 0.00002
NM_000100.4(CSTB):c.202C>T (p.Arg68Ter) rs74315442 0.00002
NM_000157.4(GBA1):c.721G>A (p.Gly241Arg) rs409652 0.00002
NM_000334.4(SCN4A):c.4364T>C (p.Ile1455Thr) rs377176361 0.00002
NM_000352.6(ABCC8):c.1792C>T (p.Arg598Ter) rs139328569 0.00002
NM_000352.6(ABCC8):c.2506C>T (p.Arg836Ter) rs72559722 0.00002
NM_000370.3(TTPA):c.205-2A>G rs758349851 0.00002
NM_000370.3(TTPA):c.2T>C (p.Met1Thr) rs786204758 0.00002
NM_000454.5(SOD1):c.435G>C (p.Leu145Phe) rs1482760341 0.00002
NM_001042492.3(NF1):c.4330A>G (p.Lys1444Glu) rs137854550 0.00002
NM_001122955.4(BSCL2):c.455A>G (p.Asn152Ser) rs137852972 0.00002
NM_001126108.2(SLC12A3):c.1195C>T (p.Arg399Cys) rs775931992 0.00002
NM_001130987.2(DYSF):c.1149+1G>A rs398123763 0.00002
NM_001130987.2(DYSF):c.6241C>T (p.Arg2081Cys) rs121908955 0.00002
NM_001267550.2(TTN):c.107377+1G>A rs112188483 0.00002
NM_001377265.1(MAPT):c.2392C>T (p.Arg798Trp) rs63750424 0.00002
NM_002693.3(POLG):c.2665G>A (p.Ala889Thr) rs763393580 0.00002
NM_004004.6(GJB2):c.596C>T (p.Ser199Phe) rs771748289 0.00002
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) rs104894396 0.00002
NM_004646.4(NPHS1):c.2417C>A (p.Ala806Asp) rs386833912 0.00002
NM_024577.4(SH3TC2):c.1586G>A (p.Arg529His) rs80338923 0.00002
NM_144773.4(PROKR2):c.563C>T (p.Ser188Leu) rs376239580 0.00002
NM_152564.5(VPS13B):c.5845C>T (p.Arg1949Ter) rs180177365 0.00002
NM_182961.4(SYNE1):c.21463C>T (p.Arg7155Ter) rs778445117 0.00002
NM_000021.4(PSEN1):c.806G>A (p.Arg269His) rs63750900 0.00001
NM_000023.4(SGCA):c.101G>A (p.Arg34His) rs371675217 0.00001
NM_000026.4(ADSL):c.568C>T (p.Arg190Ter) rs750614500 0.00001
NM_000033.4(ABCD1):c.1817C>T (p.Ser606Leu) rs128624225 0.00001
NM_000051.4(ATM):c.2T>C (p.Met1Thr) rs786203606 0.00001
NM_000051.4(ATM):c.3214G>T (p.Glu1072Ter) rs1060501687 0.00001
NM_000051.4(ATM):c.3G>A (p.Met1Ile) rs781404312 0.00001
NM_000051.4(ATM):c.5228C>T (p.Thr1743Ile) rs587779844 0.00001
NM_000051.4(ATM):c.5290del (p.Leu1764fs) rs587779846 0.00001
NM_000051.4(ATM):c.6997dup rs587781299 0.00001
NM_000069.3(CACNA1S):c.1583G>A (p.Arg528His) rs80338777 0.00001
NM_000070.3(CAPN3):c.1063C>T (p.Arg355Trp) rs749099493 0.00001
NM_000070.3(CAPN3):c.1194-9A>G rs374665929 0.00001
NM_000070.3(CAPN3):c.133G>A (p.Ala45Thr) rs774048743 0.00001
NM_000070.3(CAPN3):c.1343G>A (p.Arg448His) rs863224956 0.00001
NM_000070.3(CAPN3):c.1465C>T (p.Arg489Trp) rs863224957 0.00001
NM_000070.3(CAPN3):c.1715G>A (p.Arg572Gln) rs121434544 0.00001
NM_000070.3(CAPN3):c.1981del (p.Gln660_Ile661insTer) rs762471207 0.00001
NM_000070.3(CAPN3):c.2185-2A>G rs886041335 0.00001
NM_000070.3(CAPN3):c.2338G>C (p.Asp780His) rs778768583 0.00001
NM_000083.3(CLCN1):c.1063G>A (p.Gly355Arg) rs767000881 0.00001
NM_000083.3(CLCN1):c.1129C>T (p.Arg377Ter) rs201714423 0.00001
NM_000083.3(CLCN1):c.1471+1G>A rs375596425 0.00001
NM_000083.3(CLCN1):c.1478C>A (p.Ala493Glu) rs770900468 0.00001
NM_000083.3(CLCN1):c.1592C>T (p.Ala531Val) rs80356704 0.00001
NM_000083.3(CLCN1):c.1655A>G (p.Gln552Arg) rs80356696 0.00001
NM_000083.3(CLCN1):c.1876C>T (p.Arg626Ter) rs201894078 0.00001
NM_000083.3(CLCN1):c.1930+1G>A rs771002652 0.00001
NM_000083.3(CLCN1):c.2364+2T>A rs886041384 0.00001
NM_000083.3(CLCN1):c.2635C>T (p.Gln879Ter) rs1057518917 0.00001
NM_000083.3(CLCN1):c.409T>G (p.Tyr137Asp) rs748639603 0.00001
NM_000083.3(CLCN1):c.908G>A (p.Trp303Ter) rs1229066957 0.00001
NM_000083.3(CLCN1):c.929C>T (p.Thr310Met) rs80356691 0.00001
NM_000083.3(CLCN1):c.937G>A (p.Ala313Thr) rs80356692 0.00001
NM_000083.3(CLCN1):c.950G>A (p.Arg317Gln) rs80356702 0.00001
NM_000089.4(COL1A2):c.389G>A (p.Gly130Asp) rs72656360 0.00001
NM_000089.4(COL1A2):c.838G>A (p.Gly280Ser) rs72656387 0.00001
NM_000091.5(COL4A3):c.2452G>A (p.Gly818Arg) rs868002181 0.00001
NM_000091.5(COL4A3):c.3250G>T (p.Glu1084Ter) rs1192750535 0.00001
NM_000091.5(COL4A3):c.443G>T (p.Gly148Val) rs775373641 0.00001
NM_000091.5(COL4A3):c.520G>A (p.Gly174Arg) rs1014839148 0.00001
NM_000092.5(COL4A4):c.1118G>A (p.Gly373Glu) rs755649235 0.00001
NM_000092.5(COL4A4):c.1441G>A (p.Gly481Ser) rs181528936 0.00001
NM_000092.5(COL4A4):c.2690G>A (p.Gly897Glu) rs121912860 0.00001
NM_000100.4(CSTB):c.136C>T (p.Gln46Ter) rs545986367 0.00001
NM_000144.5(FXN):c.317T>C (p.Leu106Ser) rs104894105 0.00001
NM_000144.5(FXN):c.3G>T (p.Met1Ile) rs104894108 0.00001
NM_000162.5(GCK):c.571C>T (p.Arg191Trp) rs1085307455 0.00001
NM_000162.5(GCK):c.676G>A (p.Val226Met) rs148311934 0.00001
NM_000162.5(GCK):c.70C>T (p.Gln24Ter) rs1281712444 0.00001
NM_000166.6(GJB1):c.305A>G (p.Glu102Gly) rs779696968 0.00001
NM_000166.6(GJB1):c.490C>T (p.Arg164Trp) rs139643362 0.00001
NM_000216.4(ANOS1):c.1270C>T (p.Arg424Ter) rs747010865 0.00001
NM_000260.4(MYO7A):c.5617C>T (p.Arg1873Trp) rs397516321 0.00001
NM_000297.4(PKD2):c.1094+1G>A rs58606740 0.00001
NM_000297.4(PKD2):c.1249C>T (p.Arg417Ter) rs1324209174 0.00001
NM_000297.4(PKD2):c.1319+1G>A rs1131692280 0.00001
NM_000297.4(PKD2):c.1898+5G>A rs1553926929 0.00001
NM_000297.4(PKD2):c.2224C>T (p.Arg742Ter) rs121918040 0.00001
NM_000297.4(PKD2):c.2419C>T (p.Arg807Ter) rs1276594505 0.00001
NM_000297.4(PKD2):c.637C>T (p.Arg213Ter) rs1302726543 0.00001
NM_000297.4(PKD2):c.964C>T (p.Arg322Trp) rs1553925453 0.00001
NM_000297.4(PKD2):c.973C>T (p.Arg325Ter) rs1060503526 0.00001
NM_000334.4(SCN4A):c.2006G>A (p.Arg669His) rs80338784 0.00001
NM_000334.4(SCN4A):c.2023C>T (p.Arg675Trp) rs121908556 0.00001
NM_000334.4(SCN4A):c.2024G>A (p.Arg675Gln) rs121908557 0.00001
NM_000334.4(SCN4A):c.3395G>A (p.Arg1132Gln) rs80338789 0.00001
NM_000334.4(SCN4A):c.3877G>A (p.Val1293Ile) rs121908551 0.00001
NM_000334.4(SCN4A):c.3917G>C (p.Gly1306Ala) rs80338792 0.00001
NM_000336.3(SCNN1B):c.1696C>T (p.Arg566Ter) rs137852704 0.00001
NM_000352.6(ABCC8):c.221G>A (p.Arg74Gln) rs72559734 0.00001
NM_000352.6(ABCC8):c.2992C>T (p.Arg998Ter) rs769518471 0.00001
NM_000352.6(ABCC8):c.4157C>T (p.Ser1386Phe) rs72559718 0.00001
NM_000352.6(ABCC8):c.4432G>A (p.Gly1478Arg) rs72559715 0.00001
NM_000352.6(ABCC8):c.4477C>T (p.Arg1493Trp) rs28936371 0.00001
NM_000352.6(ABCC8):c.742C>T (p.Arg248Ter) rs72559730 0.00001
NM_000371.4(TTR):c.130C>T (p.Pro44Ser) rs11541790 0.00001
NM_000371.4(TTR):c.238A>G (p.Thr80Ala) rs121918070 0.00001
NM_000388.4(CASR):c.166G>T (p.Glu56Ter) rs1358793834 0.00001
NM_000388.4(CASR):c.2038C>T (p.Arg680Cys) rs767363250 0.00001
NM_000388.4(CASR):c.2383C>T (p.Arg795Trp) rs121909258 0.00001
NM_000426.4(LAMA2):c.112+1G>A rs398123367 0.00001
NM_000426.4(LAMA2):c.5234+1G>A rs781376927 0.00001
NM_000426.4(LAMA2):c.7074C>A (p.Tyr2358Ter) rs762806915 0.00001
NM_000435.3(NOTCH3):c.1010A>G (p.Tyr337Cys) rs2046925676 0.00001
NM_000435.3(NOTCH3):c.1594C>T (p.Arg532Cys) rs1202763005 0.00001
NM_000435.3(NOTCH3):c.1819C>T (p.Arg607Cys) rs777751303 0.00001
NM_000435.3(NOTCH3):c.2182C>T (p.Arg728Cys) rs1057519101 0.00001
NM_000435.3(NOTCH3):c.3062A>G (p.Tyr1021Cys) rs1167405466 0.00001
NM_000435.3(NOTCH3):c.3226C>T (p.Arg1076Cys) rs1438626607 0.00001
NM_000435.3(NOTCH3):c.3356G>A (p.Cys1119Tyr) rs1266914122 0.00001
NM_000435.3(NOTCH3):c.544C>T (p.Arg182Cys) rs28933697 0.00001
NM_000435.3(NOTCH3):c.553T>C (p.Cys185Arg) rs1568361844 0.00001
NM_000435.3(NOTCH3):c.619C>T (p.Arg207Cys) rs775267348 0.00001
NM_000451.4(SHOX):c.583C>T (p.Arg195Ter) rs137852552 0.00001
NM_000454.5(SOD1):c.341T>C (p.Ile114Thr) rs121912441 0.00001
NM_000454.5(SOD1):c.449T>C (p.Ile150Thr) rs1424014997 0.00001
NM_000487.6(ARSA):c.1210+1G>A rs80338820 0.00001
NM_000487.6(ARSA):c.827C>T (p.Thr276Met) rs74315472 0.00001
NM_000497.4(CYP11B1):c.896T>C (p.Leu299Pro) rs387907573 0.00001
NM_000515.5(GH1):c.626G>A (p.Arg209His) rs137853223 0.00001
NM_000525.4(KCNJ11):c.776A>G (p.His259Arg) rs104894248 0.00001
NM_000527.5(LDLR):c.2061dup (p.Asn688fs) rs137853965 0.00001
NM_000530.8(MPZ):c.116A>C (p.His39Pro) rs371856018 0.00001
NM_000530.8(MPZ):c.292C>T (p.Arg98Cys) rs121913590 0.00001
NM_000530.8(MPZ):c.293G>A (p.Arg98His) rs121913589 0.00001
NM_000530.8(MPZ):c.487G>C (p.Gly163Arg) rs281865128 0.00001
NM_000545.8(HNF1A):c.1340C>T (p.Pro447Leu) rs137853236 0.00001
NM_000545.8(HNF1A):c.599G>A (p.Arg200Gln) rs893256143 0.00001
NM_000545.8(HNF1A):c.608G>A (p.Arg203His) rs587780357 0.00001
NM_000545.8(HNF1A):c.812G>A (p.Arg271Gln) rs779184183 0.00001
NM_000548.5(TSC2):c.3598C>T (p.Arg1200Trp) rs45438205 0.00001
NM_000548.5(TSC2):c.5138G>A (p.Arg1713His) rs45517395 0.00001
NM_000551.4(VHL):c.292T>C (p.Tyr98His) rs5030809 0.00001
NM_001009944.3(PKD1):c.1198C>T (p.Arg400Ter) rs774453006 0.00001
NM_001009944.3(PKD1):c.4387C>T (p.Gln1463Ter) rs1183899324 0.00001
NM_001009944.3(PKD1):c.5014_5015del (p.Arg1672fs) rs1555455457 0.00001
NM_001009944.3(PKD1):c.8017-2_8017-1del rs1567180636 0.00001
NM_001009944.3(PKD1):c.8311G>A (p.Glu2771Lys) rs1057518897 0.00001
NM_001009944.3(PKD1):c.9412G>A (p.Val3138Met) rs1358566538 0.00001
NM_001042492.3(NF1):c.1318C>T (p.Arg440Ter) rs778405030 0.00001
NM_001042492.3(NF1):c.1466A>G (p.Tyr489Cys) rs137854557 0.00001
NM_001042492.3(NF1):c.1541_1542del (p.Gln514fs) rs267606600 0.00001
NM_001042492.3(NF1):c.2041C>T (p.Arg681Ter) rs768638173 0.00001
NM_001042492.3(NF1):c.4600C>T (p.Arg1534Ter) rs760703505 0.00001
NM_001042492.3(NF1):c.574C>T (p.Arg192Ter) rs397514641 0.00001
NM_001079802.2(FKTN):c.139C>T (p.Arg47Ter) rs119463990 0.00001
NM_001122955.4(BSCL2):c.461C>T (p.Ser154Leu) rs137852973 0.00001
NM_001126108.2(SLC12A3):c.2089_2095del (p.Thr697fs) rs771701344 0.00001
NM_001126108.2(SLC12A3):c.2546T>A (p.Leu849His) rs185927948 0.00001
NM_001126108.2(SLC12A3):c.488C>T (p.Thr163Met) rs267607050 0.00001
NM_001126108.2(SLC12A3):c.506-1G>A rs201555148 0.00001
NM_001130987.2(DYSF):c.1717C>T (p.Arg573Trp) rs377735262 0.00001
NM_001130987.2(DYSF):c.1888C>T (p.Gln630Ter) rs746873768 0.00001
NM_001130987.2(DYSF):c.3532C>T (p.Gln1178Ter) rs886042091 0.00001
NM_001130987.2(DYSF):c.356del (p.Val119fs) rs398123782 0.00001
NM_001130987.2(DYSF):c.5830C>T (p.Arg1944Ter) rs121908959 0.00001
NM_001164508.2(NEB):c.24395_24398dup (p.Leu8133fs) rs762133567 0.00001
NM_001166114.2(PNPLA6):c.316-2A>T rs148045000 0.00001
NM_001540.5(HSPB1):c.250G>C (p.Gly84Arg) rs770272088 0.00001
NM_001927.4(DES):c.322G>T (p.Glu108Ter) rs62636490 0.00001
NM_002087.4(GRN):c.1477C>T (p.Arg493Ter) rs63751294 0.00001
NM_002693.3(POLG):c.679C>T (p.Arg227Trp) rs121918056 0.00001
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) rs121918459 0.00001
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) rs28933386 0.00001
NM_003000.3(SDHB):c.600G>T (p.Trp200Cys) rs397516836 0.00001
NM_003119.4(SPG7):c.2084T>C (p.Leu695Pro) rs864622094 0.00001
NM_003919.3(SGCE):c.304C>T (p.Arg102Ter) rs121908490 0.00001
NM_003919.3(SGCE):c.771_772del (p.Thr257_Cys258insTer) rs794727794 0.00001
NM_004004.6(GJB2):c.131G>A (p.Trp44Ter) rs104894413 0.00001
NM_004004.6(GJB2):c.31_68del (p.Gly11fs) rs397516873 0.00001
NM_004004.6(GJB2):c.365A>T (p.Lys122Ile) rs111033295 0.00001
NM_004006.3(DMD):c.5899C>T (p.Arg1967Ter) rs128626249 0.00001
NM_004646.4(NPHS1):c.2663+2T>G rs762392183 0.00001
NM_004863.4(SPTLC2):c.547C>T (p.Arg183Trp) rs775437084 0.00001
NM_004984.4(KIF5A):c.967C>T (p.Arg323Trp) rs1012819766 0.00001
NM_005677.4(COLQ):c.943C>T (p.Arg315Ter) rs121908924 0.00001
NM_005912.3(MC4R):c.181G>A (p.Glu61Lys) rs370479598 0.00001
NM_005912.3(MC4R):c.466C>T (p.Gln156Ter) rs369841551 0.00001
NM_006415.4(SPTLC1):c.431T>A (p.Val144Asp) rs119482083 0.00001
NM_006790.3(MYOT):c.179C>T (p.Ser60Phe) rs121908458 0.00001
NM_007126.5(VCP):c.476G>A (p.Arg159His) rs121909335 0.00001
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) rs267607048 0.00001
NM_007375.4(TARDBP):c.881G>T (p.Gly294Val) rs80356721 0.00001
NM_014049.5(ACAD9):c.253C>T (p.Arg85Ter) rs148694290 0.00001
NM_014363.6(SACS):c.10136T>G (p.Leu3379Ter) rs1057517250 0.00001
NM_014363.6(SACS):c.5582G>A (p.Trp1861Ter) rs946368716 0.00001
NM_014363.6(SACS):c.814C>T (p.Arg272Cys) rs374128662 0.00001
NM_014625.4(NPHS2):c.412C>T (p.Arg138Ter) rs74315343 0.00001
NM_014625.4(NPHS2):c.503G>A (p.Arg168His) rs530318579 0.00001
NM_014625.4(NPHS2):c.538G>A (p.Val180Met) rs74315347 0.00001
NM_014874.4(MFN2):c.707C>T (p.Thr236Met) rs773159585 0.00001
NM_014946.4(SPAST):c.1245+1G>A rs875989878 0.00001
NM_015046.7(SETX):c.5267T>C (p.Phe1756Ser) rs762175796 0.00001
NM_015915.5(ATL1):c.1483C>T (p.Arg495Trp) rs864622269 0.00001
NM_017739.4(POMGNT1):c.931C>T (p.Arg311Ter) rs386834039 0.00001
NM_018075.5(ANO10):c.338-2A>G rs761765455 0.00001
NM_018136.5(ASPM):c.7324C>T (p.Arg2442Ter) rs769364943 0.00001
NM_018972.4(GDAP1):c.373C>T (p.Arg125Ter) rs745663149 0.00001
NM_018972.4(GDAP1):c.844C>T (p.Arg282Cys) rs28937906 0.00001
NM_020975.6(RET):c.1900T>C (p.Cys634Arg) rs75076352 0.00001
NM_020975.6(RET):c.2671T>G (p.Ser891Ala) rs75234356 0.00001
NM_021625.5(TRPV4):c.805C>T (p.Arg269Cys) rs267607146 0.00001
NM_021625.5(TRPV4):c.943C>T (p.Arg315Trp) rs267607143 0.00001
NM_024120.5(NDUFAF5):c.749G>T (p.Gly250Val) rs757043077 0.00001
NM_024426.6(WT1):c.1387C>T (p.Arg463Ter) rs121907909 0.00001
NM_025137.4(SPG11):c.2316+1G>A rs312262740 0.00001
NM_025137.4(SPG11):c.255G>A (p.Trp85Ter) rs957519261 0.00001
NM_025137.4(SPG11):c.4109del (p.Asp1370fs) rs1259332141 0.00001
NM_025137.4(SPG11):c.4307_4308del (p.Gln1436fs) rs312262759 0.00001
NM_031443.4(CCM2):c.55C>T (p.Arg19Ter) rs755800734 0.00001
NM_033337.3(CAV3):c.80G>A (p.Arg27Gln) rs116840778 0.00001
NM_153766.3(KCNJ1):c.867C>A (p.Cys289Ter) rs746509804 0.00001
NM_170707.4(LMNA):c.949G>A (p.Glu317Lys) rs56816490 0.00001
NM_181882.3(PRX):c.3611del (p.Leu1204fs) rs776887800 0.00001
NM_182961.4(SYNE1):c.14500C>T (p.Arg4834Ter) rs766129413 0.00001
NM_182961.4(SYNE1):c.20263C>T (p.Arg6755Ter) rs780451185 0.00001
NM_182961.4(SYNE1):c.24139C>T (p.Arg8047Ter) rs1174316105 0.00001
NM_182961.4(SYNE1):c.24577C>T (p.Arg8193Ter) rs760715690 0.00001
NM_182961.4(SYNE1):c.8695A>T (p.Arg2899Ter) rs119103243 0.00001
NM_182961.4(SYNE1):c.9625A>T (p.Lys3209Ter) rs780991031 0.00001
NC_000007.13:g.(?_45039923)_(45115656_?)del
NM_000021.4(PSEN1):c.1174C>G (p.Leu392Val) rs63751416
NM_000021.4(PSEN1):c.1292C>A (p.Ala431Glu) rs63750083
NM_000021.4(PSEN1):c.1300_1301delinsTG (p.Ala434Cys) rs281875357
NM_000021.4(PSEN1):c.338+1del rs63751475
NM_000021.4(PSEN1):c.344A>G (p.Tyr115Cys) rs63750450
NM_000021.4(PSEN1):c.415A>G (p.Met139Val) rs63751037
NM_000021.4(PSEN1):c.428T>C (p.Ile143Thr) rs63750004
NM_000021.4(PSEN1):c.438G>T (p.Met146Ile) rs63750391
NM_000021.4(PSEN1):c.488A>G (p.His163Arg) rs63750590
NM_000021.4(PSEN1):c.697A>C (p.Met233Leu)
NM_000021.4(PSEN1):c.697A>G (p.Met233Val) rs63751287
NM_000021.4(PSEN1):c.737C>A (p.Ala246Glu) rs63750526
NM_000021.4(PSEN1):c.791C>T (p.Pro264Leu) rs63750301
NM_000021.4(PSEN1):c.856C>G (p.Leu286Val) rs63751235
NM_000033.4(ABCD1):c.1415_1416del (p.Gln472fs) rs387906494
NM_000033.4(ABCD1):c.1440del (p.Ile481fs) rs1557054318
NM_000033.4(ABCD1):c.1534G>A (p.Gly512Ser) rs1569541088
NM_000033.4(ABCD1):c.1661G>A (p.Arg554His) rs201568579
NM_000033.4(ABCD1):c.1807del (p.Asp603fs)
NM_000033.4(ABCD1):c.1825G>A (p.Glu609Lys) rs150346282
NM_000047.3(ARSL):c.1009_1010del (p.Leu337fs)
NM_000051.4(ATM):c.1027_1030del (p.Glu343fs) rs587780612
NM_000051.4(ATM):c.1564_1565del (p.Glu522fs) rs587779817
NM_000051.4(ATM):c.3802del (p.Glu1267_Val1268insTer) rs587779834
NM_000051.4(ATM):c.5971G>T (p.Glu1991Ter) rs786203404
NM_000051.4(ATM):c.6100C>T (p.Arg2034Ter) rs532480170
NM_000051.4(ATM):c.8418+5_8418+8del rs730881295
NM_000051.4(ATM):c.8432del (p.Lys2811fs) rs587782558
NM_000054.7(AVPR2):c.383A>C (p.Tyr128Ser) rs781950164
NM_000054.7(AVPR2):c.441dup (p.Tyr148fs) rs1603282111
NM_000054.7(AVPR2):c.554del (p.Gly185fs) rs193922116
NM_000054.7(AVPR2):c.911-2A>G rs1569545567
NM_000069.3(CACNA1S):c.3715C>G (p.Arg1239Gly) rs28930069
NM_000069.3(CACNA1S):c.3716G>A (p.Arg1239His) rs28930068
NM_000070.2(CAPN3):c.643_663del(p.Ser215_Gly221del) rs863224965
NM_000070.3(CAPN3):c.1117T>C (p.Trp373Arg) rs775453643
NM_000070.3(CAPN3):c.1333G>A (p.Gly445Arg) rs773827877
NM_000070.3(CAPN3):c.1795dup (p.Thr599fs) rs80338803
NM_000070.3(CAPN3):c.1992+1G>T rs863224961
NM_000070.3(CAPN3):c.2362_2363delinsTCATCT (p.Arg788fs) rs1555423217
NM_000070.3(CAPN3):c.2381-2A>G rs863224962
NM_000070.3(CAPN3):c.259_262del (p.Leu87fs) rs763649825
NM_000070.3(CAPN3):c.322_334dup (p.Ile112fs) rs1555420075
NM_000070.3(CAPN3):c.483del (p.Ile162fs) rs863224963
NM_000070.3(CAPN3):c.550del (p.Thr184fs) rs80338800
NM_000070.3(CAPN3):c.598_612del (p.Phe200_Leu204del) rs727503837
NM_000070.3(CAPN3):c.756GAA[1] (p.Lys254del) rs794727697
NM_000070.3(CAPN3):c.883_886delinsCTT (p.Asp295fs) rs863224966
NM_000080.4(CHRNE):c.1327del rs763258280
NM_000083.3(CLCN1):c.1183_1187del (p.Gly395fs)
NM_000083.3(CLCN1):c.1261dup (p.Arg421fs) rs763633152
NM_000083.3(CLCN1):c.1264G>T (p.Glu422Ter)
NM_000083.3(CLCN1):c.1437_1450del (p.Pro480fs) rs768119034
NM_000083.3(CLCN1):c.1450T>C (p.Phe484Leu) rs1312002847
NM_000083.3(CLCN1):c.1925C>G (p.Ser642Ter) rs1803112361
NM_000083.3(CLCN1):c.2023C>T (p.Gln675Ter) rs1563086980
NM_000083.3(CLCN1):c.2831dup (p.Gly945fs) rs755176513
NM_000083.3(CLCN1):c.568_569delinsTC (p.Gly190Ser) rs797045032
NM_000083.3(CLCN1):c.689G>A (p.Gly230Glu) rs80356700
NM_000083.3(CLCN1):c.870C>G (p.Ile290Met) rs80356690
NM_000083.3(CLCN1):c.898_899delinsTA (p.Arg300Ter) rs1554436419
NM_000083.3(CLCN1):c.949C>T (p.Arg317Ter) rs1337473924
NM_000085.5(CLCNKB):c.18dup (p.Leu7fs) rs953686324
NM_000085.5(CLCNKB):c.73del (p.Cys25fs) rs1553127141
NM_000088.3(COL1A1):c.3131_3133delinsT (p.Pro1044fs) rs1567754639
NM_000088.3(COL1A1):c.3188_3190delGTGins13 (p.?)
NM_000088.4(COL1A1):c.1121G>C (p.Gly374Ala) rs1555574143
NM_000088.4(COL1A1):c.1243C>T (p.Arg415Ter) rs72648326
NM_000088.4(COL1A1):c.1299+1G>A rs66490707
NM_000088.4(COL1A1):c.1601del (p.Leu534fs) rs1598295506
NM_000088.4(COL1A1):c.1614+1G>C rs72648357
NM_000088.4(COL1A1):c.1652del (p.Gly551fs) rs1555573684
NM_000088.4(COL1A1):c.1767+1G>A rs2144569036
NM_000088.4(COL1A1):c.1804G>A (p.Gly602Arg) rs72651615
NM_000088.4(COL1A1):c.1821+1G>A rs66555264
NM_000088.4(COL1A1):c.2362G>A (p.Gly788Ser) rs67879854
NM_000088.4(COL1A1):c.2533G>A (p.Gly845Arg) rs72653136
NM_000088.4(COL1A1):c.2685del (p.Gly896fs) rs193922151
NM_000088.4(COL1A1):c.2969del (p.Ala990fs) rs1906821341
NM_000088.4(COL1A1):c.299-1G>A rs1598301619
NM_000088.4(COL1A1):c.3076C>T (p.Arg1026Ter) rs72653173
NM_000088.4(COL1A1):c.3102_3111dup (p.Glu1038Ter) rs2144546004
NM_000088.4(COL1A1):c.3118G>A (p.Gly1040Ser) rs72653178
NM_000088.4(COL1A1):c.3141TCCTGGTGC[1] (p.1047APG[2]) rs74315111
NM_000088.4(COL1A1):c.3360del (p.Gly1121fs) rs1260429820
NM_000088.4(COL1A1):c.3494del (p.Pro1165fs) rs1598286050
NM_000088.4(COL1A1):c.441del (p.Gly148fs) rs1473458290
NM_000088.4(COL1A1):c.549del (p.Ser184fs) rs1907769451
NM_000088.4(COL1A1):c.769G>A (p.Gly257Arg) rs72645321
NM_000088.4(COL1A1):c.805-36_810del rs1555574450
NM_000088.4(COL1A1):c.868G>C (p.Gly290Arg) rs1555574410
NM_000088.4(COL1A1):c.976G>C (p.Gly326Arg) rs72645355
NM_000088.4(COL1A1):c.985G>C (p.Gly329Arg) rs1555574303
NM_000089.4(COL1A2):c.1081_1090-55del rs1554396162
NM_000089.4(COL1A2):c.1153G>A (p.Gly385Arg) rs1584319922
NM_000089.4(COL1A2):c.1666G>A (p.Gly556Ser) rs1554396832
NM_000089.4(COL1A2):c.1991G>T (p.Gly664Val) rs72658154
NM_000089.4(COL1A2):c.2296G>A (p.Gly766Ser) rs72658182
NM_000089.4(COL1A2):c.2332G>A (p.Gly778Ser) rs72658186
NM_000089.4(COL1A2):c.2405G>C (p.Gly802Ala) rs1562906013
NM_000089.4(COL1A2):c.2450G>A (p.Gly817Glu)
NM_000089.4(COL1A2):c.2503G>A (p.Gly835Ser) rs72658193
NM_000089.4(COL1A2):c.3304G>A (p.Gly1102Ser) rs67768540
NM_000089.4(COL1A2):c.371G>A (p.Gly124Asp) rs72656359
NM_000089.4(COL1A2):c.389G>T (p.Gly130Val) rs72656360
NM_000089.4(COL1A2):c.604G>C (p.Gly202Arg)
NM_000089.4(COL1A2):c.956G>A (p.Gly319Glu) rs1554396083
NM_000091.5(COL4A3):c.2126G>A (p.Gly709Glu) rs1553759430
NM_000091.5(COL4A3):c.2176dup (p.Met726fs) rs1559893935
NM_000091.5(COL4A3):c.3619G>C (p.Gly1207Arg) rs1167411352
NM_000091.5(COL4A3):c.3620G>A (p.Gly1207Glu) rs1553764136
NM_000091.5(COL4A3):c.3882+5G>A rs1553764454
NM_000091.5(COL4A3):c.637G>A (p.Gly213Arg) rs1553752192
NM_000092.5(COL4A4):c.1603G>T (p.Glu535Ter) rs1553669674
NM_000092.5(COL4A4):c.2110G>A (p.Gly704Arg) rs1379525680
NM_000092.5(COL4A4):c.4334G>A (p.Gly1445Glu) rs1559402680
NM_000092.5(COL4A4):c.914_930+29del rs1553683757
NM_000094.4(COL7A1):c.6082G>A (p.Gly2028Arg) rs762162799
NM_000100.4(CSTB):c.145del (p.Ala49fs)
NM_000100.4(CSTB):c.218_219del (p.Leu73fs) rs796943858
NM_000117.3(EMD):c.116_143del (p.Phe39fs) rs1569552080
NM_000117.3(EMD):c.3G>A (p.Met1Ile) rs886044771
NM_000129.4(F13A1):c.27del (p.Phe9fs) rs763797788
NM_000144.5(FXN):c.169del (p.Ser57fs)
NM_000144.5(FXN):c.285T>A (p.Tyr95Ter) rs372775073
NM_000161.3(GCH1):c.323G>A (p.Gly108Asp) rs104894435
NM_000161.3(GCH1):c.510-1G>A rs1555358604
NM_000161.3(GCH1):c.614T>A (p.Val205Glu) rs1418922853
NM_000161.3(GCH1):c.752G>C (p.Ter251Ser) rs201255606
NM_000162.5(GCK):c.1003del (p.Val335fs) rs193922254
NM_000162.5(GCK):c.1020-1G>A rs193922258
NM_000162.5(GCK):c.1054del (p.Ile351_Leu352insTer) rs1562713041
NM_000162.5(GCK):c.1083dup (p.Thr362fs)
NM_000162.5(GCK):c.1113C>A (p.Cys371Ter) rs556581174
NM_000162.5(GCK):c.1133_1149del (p.Ala378fs) rs1554334610
NM_000162.5(GCK):c.1136C>A (p.Ala379Glu) rs193922265
NM_000162.5(GCK):c.1155dup (p.Leu386fs) rs1400535021
NM_000162.5(GCK):c.1174C>T (p.Arg392Cys) rs1167124132
NM_000162.5(GCK):c.1240A>G (p.Lys414Glu) rs193922272
NM_000162.5(GCK):c.127C>T (p.Arg43Cys) rs1486280029
NM_000162.5(GCK):c.1280_1283dup (p.Arg429fs) rs2096270699
NM_000162.5(GCK):c.1284_1362del (p.Arg429fs) rs2096270423
NM_000162.5(GCK):c.128G>A (p.Arg43His) rs764232985
NM_000162.5(GCK):c.130G>A (p.Gly44Ser) rs267601516
NM_000162.5(GCK):c.1327G>T (p.Glu443Ter) rs1562711915
NM_000162.5(GCK):c.1340G>A (p.Arg447Gln) rs1131691416
NM_000162.5(GCK):c.1340_1368del (p.Arg447fs) rs1339598338
NM_000162.5(GCK):c.140dup (p.Glu48fs) rs2128823146
NM_000162.5(GCK):c.175C>T (p.Pro59Ser) rs193922287
NM_000162.5(GCK):c.184G>A (p.Val62Met) rs1064793998
NM_000162.5(GCK):c.208G>A (p.Glu70Lys) rs2128823091
NM_000162.5(GCK):c.214G>A (p.Gly72Arg) rs193922289
NM_000162.5(GCK):c.286G>T (p.Glu96Ter) rs2096281776
NM_000162.5(GCK):c.295T>C (p.Trp99Arg) rs1554335751
NM_000162.5(GCK):c.364-1G>A rs1057521094
NM_000162.5(GCK):c.387C>A (p.Cys129Ter) rs1583601365
NM_000162.5(GCK):c.440del (p.Gly147fs) rs1554335585
NM_000162.5(GCK):c.45+1G>T rs781260712
NM_000162.5(GCK):c.46-2A>G rs1554335966
NM_000162.5(GCK):c.469G>A (p.Glu157Lys) rs1554335570
NM_000162.5(GCK):c.483+2_483+16del rs1583601110
NM_000162.5(GCK):c.483G>A (p.Lys161=) rs193922302
NM_000162.5(GCK):c.544G>A (p.Val182Met) rs587780345
NM_000162.5(GCK):c.556C>T (p.Arg186Ter) rs104894006
NM_000162.5(GCK):c.562G>A (p.Ala188Thr) rs751279776
NM_000162.5(GCK):c.608T>C (p.Val203Ala) rs1562717053
NM_000162.5(GCK):c.616A>C (p.Thr206Pro) rs587780346
NM_000162.5(GCK):c.626C>T (p.Thr209Met) rs1583599303
NM_000162.5(GCK):c.632T>C (p.Ile211Thr)
NM_000162.5(GCK):c.660C>A (p.Cys220Ter) rs142952813
NM_000162.5(GCK):c.661G>A (p.Glu221Lys) rs193922317
NM_000162.5(GCK):c.667G>A (p.Gly223Ser) rs1360415315
NM_000162.5(GCK):c.679+1G>A rs2128821468
NM_000162.5(GCK):c.680-1G>A rs1057524905
NM_000162.5(GCK):c.680-2A>G rs1562715657
NM_000162.5(GCK):c.683C>T (p.Thr228Met) rs80356655
NM_000162.5(GCK):c.686del (p.Gly229fs) rs1554335164
NM_000162.5(GCK):c.763_779dup (p.Phe260fs) rs1554335128
NM_000162.5(GCK):c.766G>A (p.Glu256Lys) rs769268803
NM_000162.5(GCK):c.769T>C (p.Trp257Arg) rs1554335135
NM_000162.5(GCK):c.781G>A (p.Gly261Arg) rs104894008
NM_000162.5(GCK):c.781G>C (p.Gly261Arg) rs104894008
NM_000162.5(GCK):c.793G>A (p.Glu265Lys) rs104894011
NM_000162.5(GCK):c.793G>T (p.Glu265Ter) rs104894011
NM_000162.5(GCK):c.854del (p.Gly285fs) rs1583596063
NM_000162.5(GCK):c.863+1G>A rs1376796469
NM_000162.5(GCK):c.864-1G>A rs1167675604
NM_000162.5(GCK):c.871A>T (p.Lys291Ter) rs193922335
NM_000162.5(GCK):c.895G>C (p.Gly299Arg) rs104894009
NM_000162.5(GCK):c.952G>A (p.Gly318Arg) rs193922340
NM_000162.5(GCK):c.971T>C (p.Leu324Pro) rs193922341
NM_000162.5(GCK):c.98T>C (p.Val33Ala) rs1554335954
NM_000166.6(GJB1):c.-103C>T rs863224971
NM_000166.6(GJB1):c.-17G>A rs879254047
NM_000166.6(GJB1):c.112G>A (p.Val38Met) rs879254012
NM_000166.6(GJB1):c.187G>A (p.Val63Ile) rs116840818
NM_000166.6(GJB1):c.194A>G (p.Tyr65Cys) rs104894819
NM_000166.6(GJB1):c.223C>T (p.Arg75Trp) rs116840819
NM_000166.6(GJB1):c.224G>A (p.Arg75Gln) rs863224972
NM_000166.6(GJB1):c.235del (p.Leu79fs) rs2147945607
NM_000166.6(GJB1):c.239A>G (p.Gln80Arg) rs879254097
NM_000166.6(GJB1):c.266T>C (p.Leu89Pro) rs1555937122
NM_000166.6(GJB1):c.283G>A (p.Val95Met) rs104894821
NM_000166.6(GJB1):c.319del (p.Arg107fs) rs1569215212
NM_000166.6(GJB1):c.43C>T (p.Arg15Trp) rs116840815
NM_000166.6(GJB1):c.44G>A (p.Arg15Gln) rs863224974
NM_000166.6(GJB1):c.462T>A (p.Tyr154Ter)
NM_000166.6(GJB1):c.467T>G (p.Leu156Arg) rs104894818
NM_000166.6(GJB1):c.524dup (p.Asn175fs) rs1569215346
NM_000166.6(GJB1):c.541G>A (p.Val181Met) rs879253909
NM_000166.6(GJB1):c.548G>A (p.Arg183His) rs1555937233
NM_000166.6(GJB1):c.556G>A (p.Glu186Lys) rs116840821
NM_000166.6(GJB1):c.614A>G (p.Asn205Ser) rs104894822
NM_000166.6(GJB1):c.622G>A (p.Glu208Lys) rs1555937270
NM_000166.6(GJB1):c.643C>T (p.Arg215Trp) rs879254099
NM_000166.6(GJB1):c.64C>T (p.Arg22Ter) rs1555937020
NM_000166.6(GJB1):c.658C>T (p.Arg220Ter) rs104894814
NM_000166.6(GJB1):c.65G>A (p.Arg22Gln) rs1060501002
NM_000166.6(GJB1):c.77C>T (p.Ser26Leu) rs587777876
NM_000166.6(GJB1):c.807_808del (p.Ala271fs) rs1602350012
NM_000166.6(GJB1):c.843_846del (p.Cys283fs) rs1602350059
NM_000198.4(HSD3B2):c.558dup (p.Thr187fs) rs770815049
NM_000198.4(HSD3B2):c.818_819del (p.Lys273fs) rs754609778
NM_000207.3(INS):c.287G>A (p.Cys96Tyr) rs80356671
NM_000209.4(PDX1):c.188del (p.Pro63fs) rs193929377
NM_000209.4(PDX1):c.217dup (p.Leu73fs) rs1445970498
NM_000217.3(KCNA1):c.1214C>T (p.Pro405Leu) rs1555085798
NM_000217.3(KCNA1):c.785T>C (p.Ile262Thr) rs2137673584
NM_000231.3(SGCG):c.195+4_195+7del rs797045106
NM_000231.3(SGCG):c.525del (p.Phe175fs) rs786204786
NM_000232.5(SGCB):c.325C>T (p.Arg109Ter) rs750773622
NM_000233.4(LHCGR):c.1691A>G (p.Asp564Gly) rs121912540
NM_000233.4(LHCGR):c.1723A>C (p.Ile575Leu) rs767343825
NM_000233.4(LHCGR):c.1733A>G (p.Asp578Gly) rs121912518
NM_000252.3(MTM1):c.342_342+4del rs797045717
NM_000252.3(MTM1):c.969dup (p.Val324fs) rs587783865
NM_000268.4(NF2):c.1006dup (p.Arg336fs) rs1601643896
NM_000268.4(NF2):c.1396C>T (p.Arg466Ter) rs74315504
NM_000268.4(NF2):c.448-2A>G rs2146966211
NM_000268.4(NF2):c.461_479dup (p.Gly161fs) rs1569293373
NM_000268.4(NF2):c.586C>T (p.Arg196Ter) rs1555993336
NM_000268.4(NF2):c.592C>T (p.Arg198Ter) rs1555993345
NM_000268.4(NF2):c.738_756del (p.Glu247fs) rs1555996156
NM_000292.3(PHKA2):c.1387C>T (p.Gln463Ter)
NM_000297.4(PKD2):c.1158T>G (p.Tyr386Ter) rs571950456
NM_000297.4(PKD2):c.1194_1195del (p.Glu400fs) rs1727649413
NM_000297.4(PKD2):c.1365G>A (p.Trp455Ter) rs1578135870
NM_000297.4(PKD2):c.1390C>T (p.Arg464Ter) rs121918042
NM_000297.4(PKD2):c.1671_1678del (p.Phe558fs) rs1553926529
NM_000297.4(PKD2):c.2019+1G>A rs1553927080
NM_000297.4(PKD2):c.203dup (p.Ala69fs) rs1187336837
NM_000297.4(PKD2):c.2159del (p.Asn720fs) rs757757289
NM_000297.4(PKD2):c.2240+1G>A rs1553927783
NM_000297.4(PKD2):c.2440G>T (p.Glu814Ter) rs1578148821
NM_000297.4(PKD2):c.2498del (p.Gly833fs)
NM_000297.4(PKD2):c.2527del (p.Leu842_Val843insTer) rs1560632930
NM_000297.4(PKD2):c.2614C>T (p.Arg872Ter) rs755226061
NM_000297.4(PKD2):c.261G>A (p.Trp87Ter) rs1578111345
NM_000297.4(PKD2):c.469C>T (p.Arg157Ter) rs1726249249
NM_000297.4(PKD2):c.514del (p.Asp172fs) rs1232369409
NM_000297.4(PKD2):c.556C>T (p.Arg186Ter) rs1726258048
NM_000297.4(PKD2):c.596-1G>T rs1560597874
NM_000297.4(PKD2):c.602G>A (p.Trp201Ter) rs1726673986
NM_000297.4(PKD2):c.603G>A (p.Trp201Ter) rs1553924158
NM_000297.4(PKD2):c.710-2A>G rs2110104722
NM_000297.4(PKD2):c.783dup (p.Val262fs) rs2110104877
NM_000297.4(PKD2):c.916C>T (p.Arg306Ter) rs200001068
NM_000304.4(PMP22):c.256C>T (p.Gln86Ter) rs11545341
NM_000304.4(PMP22):c.281dup (p.Arg95fs) rs80338763
NM_000304.4(PMP22):c.327C>A (p.Cys109Ter) rs863225028
NM_000304.4(PMP22):c.433del (p.Leu145fs) rs1567698872
NM_000304.4(PMP22):c.434del (p.Leu145fs) rs863225029
NM_000304.4(PMP22):c.68del (p.Thr23fs) rs1567719258
NM_000304.4(PMP22):c.79-2A>G rs1597633171
NM_000314.8(PTEN):c.885_886del (p.Leu295_Cys296insTer) rs1564568350
NM_000334.4(SCN4A):c.1333G>A (p.Val445Met) rs121908552
NM_000334.4(SCN4A):c.2014C>T (p.Arg672Cys) rs80338785
NM_000334.4(SCN4A):c.2078T>C (p.Ile693Thr) rs80338956
NM_000334.4(SCN4A):c.2111C>T (p.Thr704Met) rs80338957
NM_000334.4(SCN4A):c.2411C>T (p.Ser804Phe) rs121908546
NM_000334.4(SCN4A):c.3404G>A (p.Arg1135His) rs527236150
NM_000334.4(SCN4A):c.3472C>T (p.Pro1158Ser) rs121908555
NM_000334.4(SCN4A):c.3478A>G (p.Ile1160Val) rs121908549
NM_000334.4(SCN4A):c.3893T>G (p.Phe1298Cys) rs886043595
NM_000334.4(SCN4A):c.3917G>T (p.Gly1306Val) rs80338792
NM_000334.4(SCN4A):c.3938C>T (p.Thr1313Met) rs121908547
NM_000334.4(SCN4A):c.4307T>C (p.Leu1436Pro) rs1598405334
NM_000334.4(SCN4A):c.4342C>T (p.Arg1448Cys) rs121908544
NM_000334.4(SCN4A):c.4343G>A (p.Arg1448His) rs121908545
NM_000334.4(SCN4A):c.4765G>A (p.Val1589Met) rs121908548
NM_000334.4(SCN4A):c.4774A>G (p.Met1592Val) rs80338962
NM_000334.4(SCN4A):c.5113T>A (p.Phe1705Ile) rs1064794243
NM_000336.3(SCNN1B):c.1747G>T (p.Glu583Ter) rs1555490554
NM_000336.3(SCNN1B):c.1789del (p.Arg597fs) rs758629218
NM_000336.3(SCNN1B):c.1789dup (p.Arg597fs) rs758629218
NM_000336.3(SCNN1B):c.1847C>T (p.Pro616Leu) rs387906402
NM_000336.3(SCNN1B):c.1852C>T (p.Pro618Ser) rs536187488
NM_000336.3(SCNN1B):c.1854dup (p.Asn619fs) rs1963032146
NM_000344.4(SMN1):c.346A>T (p.Ile116Phe) rs104893933
NM_000344.4(SMN1):c.43C>T (p.Gln15Ter)
NM_000344.4(SMN1):c.469C>T (p.Gln157Ter) rs1580886973
NM_000344.4(SMN1):c.510_511del (p.Ser170fs) rs1561499720
NM_000344.4(SMN1):c.549del (p.Lys184fs) rs2112806512
NM_000344.4(SMN1):c.683T>A (p.Leu228Ter) rs79784540
NM_000344.4(SMN1):c.770_780dup (p.Gly261fs) rs1561500847
NM_000344.4(SMN1):c.785G>T (p.Ser262Ile) rs1554066659
NM_000344.4(SMN1):c.815A>G (p.Tyr272Cys) rs104893922
NM_000344.4(SMN1):c.821C>T (p.Thr274Ile) rs1554066666
NM_000349.3(STAR):c.201_202del (p.Tyr68fs) rs1563268652
NM_000349.3(STAR):c.505G>A (p.Glu169Lys) rs747169620
NM_000349.3(STAR):c.545G>A (p.Arg182His) rs104894086
NM_000352.6(ABCC8):c.1421A>G (p.Gln474Arg) rs1591834223
NM_000352.6(ABCC8):c.1634del (p.Phe545fs) rs1260178539
NM_000352.6(ABCC8):c.2222+1G>T rs1554923999
NM_000352.6(ABCC8):c.3107G>A (p.Trp1036Ter) rs755259997
NM_000352.6(ABCC8):c.3574del (p.Asp1192fs) rs1057516317
NM_000352.6(ABCC8):c.4132G>C (p.Gly1378Arg) rs925231098
NM_000352.6(ABCC8):c.4151_4152del (p.Lys1384fs) rs1554905145
NM_000352.6(ABCC8):c.4154CCT[1] (p.Ser1386del) rs387906408
NM_000352.6(ABCC8):c.4307G>A (p.Arg1436Gln) rs387906407
NM_000352.6(ABCC8):c.4516G>A (p.Glu1506Lys) rs137852671
NM_000352.6(ABCC8):c.4613G>A (p.Arg1538Gln) rs1564869850
NM_000352.6(ABCC8):c.563A>G (p.Asn188Ser) rs797045213
NM_000368.5(TSC1):c.107-1G>A rs1064793494
NM_000368.5(TSC1):c.1257del (p.Arg420fs) rs118203506
NM_000368.5(TSC1):c.1264-1G>A rs1554816432
NM_000368.5(TSC1):c.1431_1434del (p.Glu478fs) rs118203527
NM_000368.5(TSC1):c.1525C>T (p.Arg509Ter) rs118203542
NM_000368.5(TSC1):c.1580_1581del (p.Gln527fs) rs118203550
NM_000368.5(TSC1):c.1680_1702del (p.Ser561fs) rs118203557
NM_000368.5(TSC1):c.1697del (p.Pro566fs) rs118203563
NM_000368.5(TSC1):c.1888_1891del (p.Lys630fs)
NM_000368.5(TSC1):c.1904_1905del (p.Thr635fs) rs118203597
NM_000368.5(TSC1):c.1959dup (p.Gln654fs) rs118203603
NM_000368.5(TSC1):c.1960C>T (p.Gln654Ter) rs75820036
NM_000368.5(TSC1):c.2023del (p.Asp675fs) rs118203620
NM_000368.5(TSC1):c.2041+1G>A rs397514842
NM_000368.5(TSC1):c.2074C>T (p.Arg692Ter) rs118203631
NM_000368.5(TSC1):c.211-2A>C rs118203352
NM_000368.5(TSC1):c.2152_2153insAGCC (p.Arg718fs) rs1588303969
NM_000368.5(TSC1):c.2161del (p.Arg721fs) rs1588303890
NM_000368.5(TSC1):c.2227C>T (p.Gln743Ter) rs118203661
NM_000368.5(TSC1):c.2249G>A (p.Trp750Ter) rs118203662
NM_000368.5(TSC1):c.2356C>T (p.Arg786Ter) rs118203682
NM_000368.5(TSC1):c.2509_2512del (p.Asn837fs) rs118203707
NM_000368.5(TSC1):c.2672del (p.Asn891fs) rs118203724
NM_000368.5(TSC1):c.2675_2676del (p.Arg892fs) rs118203726
NM_000368.5(TSC1):c.2698C>T (p.Gln900Ter) rs397514871
NM_000368.5(TSC1):c.271_272del (p.Ser91fs) rs118203360
NM_000368.5(TSC1):c.451_455delinsTTTC (p.Leu151fs) rs1554819900
NM_000368.5(TSC1):c.485C>A (p.Ser162Ter) rs1846671628
NM_000368.5(TSC1):c.647_648del (p.Thr215_Phe216insTer) rs118203417
NM_000368.5(TSC1):c.651_663dup (p.Pro222fs) rs1554819509
NM_000368.5(TSC1):c.661A>T (p.Lys221Ter) rs1564497826
NM_000368.5(TSC1):c.664-1G>C rs118203423
NM_000368.5(TSC1):c.682C>T (p.Arg228Ter) rs118203427
NM_000368.5(TSC1):c.733C>T (p.Arg245Ter) rs118203434
NM_000368.5(TSC1):c.737+1G>A rs118203438
NM_000368.5(TSC1):c.749del (p.Arg249_Leu250insTer) rs118203445
NM_000368.5(TSC1):c.866C>G (p.Ser289Ter) rs397514867
NM_000368.5(TSC1):c.901_902del (p.Gln301fs) rs118203464
NM_000368.5(TSC1):c.973C>T (p.Gln325Ter) rs118203474
NM_000368.5(TSC1):c.989_990del (p.Leu330fs) rs118203479
NM_000368.5(TSC1):c.989dup (p.Ser331fs) rs118203478
NM_000370.3(TTPA):c.366G>A (p.Trp122Ter) rs1554523526
NM_000370.3(TTPA):c.595G>T (p.Glu199Ter) rs1563678790
NM_000371.4(TTR):c.157T>C (p.Phe53Leu) rs121918068
NM_000371.4(TTR):c.200G>C (p.Gly67Ala) rs121918090
NM_000371.4(TTR):c.210T>A (p.Ser70Arg) rs121918076
NM_000371.4(TTR):c.233T>A (p.Leu78His) rs121918069
NM_000371.4(TTR):c.250T>C (p.Phe84Leu) rs121918091
NM_000371.4(TTR):c.290C>A (p.Ser97Tyr) rs121918071
NM_000371.4(TTR):c.325G>C (p.Glu109Gln) rs121918082
NM_000371.4(TTR):c.379A>G (p.Ile127Val) rs121918089
NM_000381.4(MID1):c.1819del (p.Leu607fs)
NM_000383.4(AIRE):c.1265del (p.Pro422fs) rs764878471
NM_000383.4(AIRE):c.1365G>A (p.Trp455Ter) rs1555873118
NM_000383.4(AIRE):c.517C>T (p.Gln173Ter) rs1057517241
NM_000383.4(AIRE):c.967_979del (p.Leu323fs) rs386833675
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)
NM_000388.4(CASR):c.1376A>G (p.Gln459Arg) rs2107633334
NM_000388.4(CASR):c.1394G>A (p.Arg465Gln) rs104893716
NM_000388.4(CASR):c.164C>T (p.Pro55Leu) rs886041154
NM_000388.4(CASR):c.1732+1G>T rs1576875919
NM_000388.4(CASR):c.1810G>A (p.Glu604Lys) rs104893712
NM_000388.4(CASR):c.1849del (p.Thr617fs) rs1553768938
NM_000388.4(CASR):c.2097del (p.Asn700fs) rs1576877427
NM_000388.4(CASR):c.2101del (p.Arg701fs) rs1553769004
NM_000388.4(CASR):c.2154G>A (p.Trp718Ter) rs2074932551
NM_000388.4(CASR):c.2657G>C (p.Arg886Pro) rs1057520791
NM_000388.4(CASR):c.554G>A (p.Arg185Gln) rs104893689
NM_000388.4(CASR):c.554del (p.Arg185fs) rs193922442
NM_000388.4(CASR):c.653A>G (p.Tyr218Cys) rs2074624616
NM_000388.4(CASR):c.658C>T (p.Arg220Trp) rs1482119762
NM_000388.4(CASR):c.662C>T (p.Pro221Leu) rs397514728
NM_000388.4(CASR):c.679C>T (p.Arg227Ter) rs1085307984
NM_000388.4(CASR):c.680G>A (p.Arg227Gln) rs28936684
NM_000399.5(EGR2):c.1141C>T (p.Arg381Cys) rs1589080524
NM_000399.5(EGR2):c.1142G>A (p.Arg381His) rs281865137
NM_000399.5(EGR2):c.1225C>T (p.Arg409Trp) rs104894159
NM_000426.4(LAMA2):c.2383G>T (p.Glu795Ter)
NM_000426.4(LAMA2):c.3924+2T>C rs1554269966
NM_000426.4(LAMA2):c.9101_9104dup (p.His3035fs) rs398123390
NM_000435.3(NOTCH3):c.1117G>T (p.Gly373Cys) rs1435305678
NM_000435.3(NOTCH3):c.1135T>G (p.Cys379Gly) rs1555729105
NM_000435.3(NOTCH3):c.1187C>G (p.Ser396Cys) rs863225297
NM_000435.3(NOTCH3):c.1204T>A (p.Cys402Ser) rs1568360524
NM_000435.3(NOTCH3):c.1223G>A (p.Cys408Tyr)
NM_000435.3(NOTCH3):c.1241C>G (p.Ser414Cys) rs2145436403
NM_000435.3(NOTCH3):c.1255T>G (p.Cys419Gly) rs1555729070
NM_000435.3(NOTCH3):c.1258G>T (p.Gly420Cys) rs1323608032
NM_000435.3(NOTCH3):c.1261C>T (p.Arg421Cys) rs1555729068
NM_000435.3(NOTCH3):c.1268A>G (p.Tyr423Cys) rs1555729064
NM_000435.3(NOTCH3):c.1279C>T (p.Arg427Cys) rs1599391536
NM_000435.3(NOTCH3):c.1282T>C (p.Cys428Arg)
NM_000435.3(NOTCH3):c.1283G>A (p.Cys428Tyr) rs1568360455
NM_000435.3(NOTCH3):c.1283G>T (p.Cys428Phe)
NM_000435.3(NOTCH3):c.128G>A (p.Cys43Tyr) rs1555730204
NM_000435.3(NOTCH3):c.128_129delinsAT (p.Cys43Tyr)
NM_000435.3(NOTCH3):c.1304G>A (p.Cys435Tyr)
NM_000435.3(NOTCH3):c.1337G>T (p.Cys446Phe) rs1568360410
NM_000435.3(NOTCH3):c.1363T>A (p.Cys455Ser) rs28933698
NM_000435.3(NOTCH3):c.1363T>C (p.Cys455Arg) rs28933698
NM_000435.3(NOTCH3):c.1364G>A (p.Cys455Tyr) rs886041513
NM_000435.3(NOTCH3):c.1369T>G (p.Cys457Gly)
NM_000435.3(NOTCH3):c.1370G>A (p.Cys457Tyr)
NM_000435.3(NOTCH3):c.1426A>T (p.Ser476Cys) rs886054260
NM_000435.3(NOTCH3):c.1433G>A (p.Cys478Tyr) rs1568360142
NM_000435.3(NOTCH3):c.1450T>A (p.Cys484Ser)
NM_000435.3(NOTCH3):c.1451G>A (p.Cys484Tyr) rs1313319587
NM_000435.3(NOTCH3):c.1451G>T (p.Cys484Phe) rs1313319587
NM_000435.3(NOTCH3):c.145T>C (p.Cys49Arg) rs1555730197
NM_000435.3(NOTCH3):c.145T>G (p.Cys49Gly) rs1555730197
NM_000435.3(NOTCH3):c.146G>A (p.Cys49Tyr) rs193921045
NM_000435.3(NOTCH3):c.146G>T (p.Cys49Phe) rs193921045
NM_000435.3(NOTCH3):c.1474A>T (p.Ser492Cys) rs2046899820
NM_000435.3(NOTCH3):c.1531T>A (p.Cys511Ser)
NM_000435.3(NOTCH3):c.1533C>G (p.Cys511Trp)
NM_000435.3(NOTCH3):c.1547G>T (p.Cys516Phe) rs2046897026
NM_000435.3(NOTCH3):c.1565G>C (p.Cys522Ser)
NM_000435.3(NOTCH3):c.1566C>G (p.Cys522Trp)
NM_000435.3(NOTCH3):c.1597T>C (p.Cys533Arg) rs1555728898
NM_000435.3(NOTCH3):c.160C>T (p.Arg54Cys) rs1555730189
NM_000435.3(NOTCH3):c.1624T>C (p.Cys542Arg) rs2145433361
NM_000435.3(NOTCH3):c.163T>C (p.Cys55Arg) rs1568363980
NM_000435.3(NOTCH3):c.1646G>A (p.Cys549Tyr) rs1555728814
NM_000435.3(NOTCH3):c.1646G>C (p.Cys549Ser)
NM_000435.3(NOTCH3):c.164G>A (p.Cys55Tyr) rs1555730188
NM_000435.3(NOTCH3):c.1669G>T (p.Gly557Cys) rs1317994194
NM_000435.3(NOTCH3):c.1672C>T (p.Arg558Cys) rs75068032
NM_000435.3(NOTCH3):c.1736G>A (p.Cys579Tyr) rs2145433000
NM_000435.3(NOTCH3):c.1759C>T (p.Arg587Cys) rs754554486
NM_000435.3(NOTCH3):c.1774C>T (p.Arg592Cys) rs764148985
NM_000435.3(NOTCH3):c.1790G>A (p.Cys597Tyr) rs2046888772
NM_000435.3(NOTCH3):c.1816T>C (p.Cys606Arg) rs1568359346
NM_000435.3(NOTCH3):c.1849T>C (p.Cys617Arg) rs2145432499
NM_000435.3(NOTCH3):c.1871G>A (p.Cys624Tyr) rs758997426
NM_000435.3(NOTCH3):c.193T>G (p.Cys65Gly) rs1555730177
NM_000435.3(NOTCH3):c.194G>A (p.Cys65Tyr) rs1555730176
NM_000435.3(NOTCH3):c.194G>C (p.Cys65Ser) rs1555730176
NM_000435.3(NOTCH3):c.1999G>T (p.Gly667Cys) rs376046941
NM_000435.3(NOTCH3):c.199T>A (p.Cys67Ser)
NM_000435.3(NOTCH3):c.200G>T (p.Cys67Phe) rs1555729615
NM_000435.3(NOTCH3):c.212_229dup (p.Cys76_Gln77insArgValGlyGluArgCys) rs2145443744
NM_000435.3(NOTCH3):c.213G>C (p.Trp71Cys)
NM_000435.3(NOTCH3):c.213G>T (p.Trp71Cys) rs28937321
NM_000435.3(NOTCH3):c.224G>C (p.Arg75Pro) rs145069047
NM_000435.3(NOTCH3):c.226T>A (p.Cys76Ser) rs1555729610
NM_000435.3(NOTCH3):c.226T>C (p.Cys76Arg) rs1555729610
NM_000435.3(NOTCH3):c.227G>A (p.Cys76Tyr) rs1568362252
NM_000435.3(NOTCH3):c.244T>C (p.Cys82Arg) rs2046937845
NM_000435.3(NOTCH3):c.244T>G (p.Cys82Gly) rs2046937845
NM_000435.3(NOTCH3):c.245G>T (p.Cys82Phe) rs1023306013
NM_000435.3(NOTCH3):c.259T>C (p.Cys87Arg) rs1568362232
NM_000435.3(NOTCH3):c.268C>T (p.Arg90Cys) rs1555729604
NM_000435.3(NOTCH3):c.278G>A (p.Cys93Tyr)
NM_000435.3(NOTCH3):c.2798G>T (p.Cys933Phe)
NM_000435.3(NOTCH3):c.2951T>G (p.Phe984Cys) rs995523352
NM_000435.3(NOTCH3):c.2953C>T (p.Arg985Cys) rs1188569102
NM_000435.3(NOTCH3):c.2989T>G (p.Cys997Gly) rs1555727960
NM_000435.3(NOTCH3):c.3011G>A (p.Cys1004Tyr) rs1555727944
NM_000435.3(NOTCH3):c.3016C>T (p.Arg1006Cys) rs1555727942
NM_000435.3(NOTCH3):c.3026G>A (p.Cys1009Tyr) rs1217205469
NM_000435.3(NOTCH3):c.3040C>T (p.Arg1014Cys) rs376682593
NM_000435.3(NOTCH3):c.3043T>C (p.Cys1015Arg) rs1599382214
NM_000435.3(NOTCH3):c.3044G>T (p.Cys1015Phe)
NM_000435.3(NOTCH3):c.3064T>A (p.Cys1022Ser) rs2046833026
NM_000435.3(NOTCH3):c.3065G>T (p.Cys1022Phe) rs1555727930
NM_000435.3(NOTCH3):c.3091C>T (p.Arg1031Cys) rs1285584068
NM_000435.3(NOTCH3):c.316T>C (p.Cys106Arg) rs1555729589
NM_000435.3(NOTCH3):c.3172G>T (p.Gly1058Cys)
NM_000435.3(NOTCH3):c.3182G>A (p.Cys1061Tyr) rs1064794216
NM_000435.3(NOTCH3):c.3206A>G (p.Tyr1069Cys) rs1438064001
NM_000435.3(NOTCH3):c.323G>A (p.Cys108Tyr) rs1555729584
NM_000435.3(NOTCH3):c.323G>T (p.Cys108Phe) rs1555729584
NM_000435.3(NOTCH3):c.328C>T (p.Arg110Cys) rs775836288
NM_000435.3(NOTCH3):c.3296G>A (p.Cys1099Tyr) rs1555727841
NM_000435.3(NOTCH3):c.3298C>T (p.Arg1100Cys)
NM_000435.3(NOTCH3):c.3409T>C (p.Cys1137Arg) rs2145418962
NM_000435.3(NOTCH3):c.341-2A>G rs2046935672
NM_000435.3(NOTCH3):c.349T>C (p.Cys117Arg) rs1555729554
NM_000435.3(NOTCH3):c.349T>G (p.Cys117Gly) rs1555729554
NM_000435.3(NOTCH3):c.350G>A (p.Cys117Tyr) rs773539041
NM_000435.3(NOTCH3):c.350G>T (p.Cys117Phe) rs773539041
NM_000435.3(NOTCH3):c.353C>G (p.Ser118Cys) rs1469620436
NM_000435.3(NOTCH3):c.3628C>T (p.Arg1210Cys)
NM_000435.3(NOTCH3):c.368G>T (p.Cys123Phe) rs2046935167
NM_000435.3(NOTCH3):c.3696C>G (p.Cys1232Trp)
NM_000435.3(NOTCH3):c.3925C>T (p.Arg1309Cys) rs1402176902
NM_000435.3(NOTCH3):c.3970T>A (p.Cys1324Ser)
NM_000435.3(NOTCH3):c.397C>T (p.Arg133Cys) rs137852642
NM_000435.3(NOTCH3):c.421C>T (p.Arg141Cys) rs1174625611
NM_000435.3(NOTCH3):c.431G>A (p.Cys144Tyr) rs1568361985
NM_000435.3(NOTCH3):c.436T>C (p.Cys146Arg) rs1555729510
NM_000435.3(NOTCH3):c.437G>A (p.Cys146Tyr) rs1236699193
NM_000435.3(NOTCH3):c.457C>T (p.Arg153Cys) rs797045014
NM_000435.3(NOTCH3):c.502T>A (p.Cys168Ser)
NM_000435.3(NOTCH3):c.505C>T (p.Arg169Cys) rs28933696
NM_000435.3(NOTCH3):c.520T>C (p.Cys174Arg) rs1599394806
NM_000435.3(NOTCH3):c.521G>A (p.Cys174Tyr) rs1555729486
NM_000435.3(NOTCH3):c.521G>T (p.Cys174Phe) rs1555729486
NM_000435.3(NOTCH3):c.548G>A (p.Cys183Tyr) rs1568361851
NM_000435.3(NOTCH3):c.548G>T (p.Cys183Phe) rs1568361851
NM_000435.3(NOTCH3):c.553T>G (p.Cys185Gly) rs1568361844
NM_000435.3(NOTCH3):c.554G>A (p.Cys185Tyr) rs1555729477
NM_000435.3(NOTCH3):c.554G>T (p.Cys185Phe) rs1555729477
NM_000435.3(NOTCH3):c.566A>G (p.Tyr189Cys) rs2145441610
NM_000435.3(NOTCH3):c.580T>A (p.Cys194Ser) rs1568361818
NM_000435.3(NOTCH3):c.580T>C (p.Cys194Arg) rs1568361818
NM_000435.3(NOTCH3):c.581G>A (p.Cys194Tyr) rs2145441541
NM_000435.3(NOTCH3):c.581G>T (p.Cys194Phe) rs2145441541
NM_000435.3(NOTCH3):c.602G>A (p.Cys201Tyr) rs1555729468
NM_000435.3(NOTCH3):c.602G>C (p.Cys201Ser) rs1555729468
NM_000435.3(NOTCH3):c.602G>T (p.Cys201Phe) rs1555729468
NM_000435.3(NOTCH3):c.634T>A (p.Cys212Ser) rs1555729455
NM_000435.3(NOTCH3):c.664T>C (p.Cys222Arg)
NM_000435.3(NOTCH3):c.665G>A (p.Cys222Tyr) rs1555729452
NM_000435.3(NOTCH3):c.665G>C (p.Cys222Ser)
NM_000435.3(NOTCH3):c.671G>A (p.Cys224Tyr) rs1555729451
NM_000435.3(NOTCH3):c.719G>A (p.Cys240Tyr) rs1599394351
NM_000435.3(NOTCH3):c.751T>C (p.Cys251Arg) rs1568361608
NM_000435.3(NOTCH3):c.752G>A (p.Cys251Tyr) rs1555729405
NM_000435.3(NOTCH3):c.773A>G (p.Tyr258Cys) rs947976672
NM_000435.3(NOTCH3):c.779G>T (p.Cys260Phe) rs2046928618
NM_000435.3(NOTCH3):c.811T>C (p.Cys271Arg) rs2046927630
NM_000435.3(NOTCH3):c.953G>A (p.Cys318Tyr) rs1568361404
NM_000435.3(NOTCH3):c.955_956delinsTG (p.Ala319Cys) rs2145439810
NM_000435.3(NOTCH3):c.968G>A (p.Cys323Tyr)
NM_000435.3(NOTCH3):c.986G>A (p.Cys329Tyr) rs2046925963
NM_000435.3(NOTCH3):c.994C>T (p.Arg332Cys) rs137852641
NM_000444.6(PHEX):c.1033C>T (p.Gln345Ter) rs1569391212
NM_000444.6(PHEX):c.1174-2A>G rs1064796927
NM_000444.6(PHEX):c.118+1G>T rs1131691731
NM_000444.6(PHEX):c.1184_1185dup (p.Thr396fs) rs1602307030
NM_000444.6(PHEX):c.1482+1G>A rs1064793228
NM_000444.6(PHEX):c.15_16del (p.Gly6fs) rs1569364701
NM_000444.6(PHEX):c.1645C>T (p.Arg549Ter) rs886041224
NM_000444.6(PHEX):c.1843dup (p.Thr615fs) rs886041366
NM_000444.6(PHEX):c.187+1G>A rs1556012100
NM_000444.6(PHEX):c.1899+1G>A rs1556138769
NM_000444.6(PHEX):c.2071-2A>G rs1936359447
NM_000444.6(PHEX):c.2104C>T (p.Arg702Ter) rs886041226
NM_000444.6(PHEX):c.2239C>T (p.Arg747Ter) rs886041227
NM_000444.6(PHEX):c.263G>A (p.Trp88Ter) rs1569369653
NM_000444.6(PHEX):c.282del (p.Glu96fs) rs1602251992
NM_000444.6(PHEX):c.481dup (p.Arg161fs) rs1602274746
NM_000444.6(PHEX):c.871C>T (p.Arg291Ter) rs866429868
NM_000447.3(PSEN2):c.422A>T (p.Asn141Ile) rs63750215
NM_000451.4(SHOX):c.352_353del (p.Arg118fs) rs1569493663
NM_000451.4(SHOX):c.435del (p.Phe145fs)
NM_000451.4(SHOX):c.454C>T (p.Gln152Ter)
NM_000451.4(SHOX):c.518G>A (p.Arg173His) rs746801054
NM_000451.4(SHOX):c.712_714delinsAG (p.Tyr238fs) rs1556468777
NM_000451.4(SHOX):c.728del (p.Pro243fs) rs757845999
NM_000454.5(SOD1):c.115C>G (p.Leu39Val) rs121912432
NM_000454.5(SOD1):c.131A>G (p.His44Arg) rs121912435
NM_000454.5(SOD1):c.13G>A (p.Ala5Thr) rs121912444
NM_000454.5(SOD1):c.140A>G (p.His47Arg) rs121912443
NM_000454.5(SOD1):c.301G>A (p.Glu101Lys) rs76731700
NM_000454.5(SOD1):c.346C>G (p.Arg116Gly) rs1301635320
NM_000454.5(SOD1):c.420C>A (p.Asn140Lys) rs1804449
NM_000454.5(SOD1):c.434T>C (p.Leu145Ser) rs121912446
NM_000458.4(HNF1B):c.344+1G>A
NM_000458.4(HNF1B):c.439C>T (p.Gln147Ter)
NM_000458.4(HNF1B):c.494G>A (p.Arg165His)
NM_000458.4(HNF1B):c.544C>T (p.Gln182Ter)
NM_000458.4(HNF1B):c.632_635dup (p.Ser213fs)
NM_000458.4(HNF1B):c.789del (p.Ala263_Leu264insTer)
NM_000458.4(HNF1B):c.809+1G>T
NM_000458.4(HNF1B):c.826C>T (p.Arg276Ter)
NM_000466.3(PEX1):c.2097dup (p.Ile700fs) rs61750415
NM_000475.5(NR0B1):c.463_467delinsTGAGCTCCG (p.Gln155_Thr156delinsTer) rs1555973147
NM_000475.5(NR0B1):c.625C>T (p.Gln209Ter) rs1569268878
NM_000475.5(NR0B1):c.986_987delinsA (p.Gly329fs) rs1926565907
NM_000475.5(NR0B1):c.998_1001dup (p.Pro335fs) rs1926565370
NM_000475.5(NR0B1):c.99del (p.Leu34fs) rs1569269195
NM_000484.4(APP):c.2149G>A (p.Val717Ile) rs63750264
NM_000484.4(APP):c.2149G>C (p.Val717Leu) rs63750264
NM_000484.4(APP):c.2150T>G (p.Val717Gly) rs63749964
NM_000497.4(CYP11B1):c.1181del (p.Asn394fs) rs1256580853
NM_000497.4(CYP11B1):c.281C>T (p.Pro94Leu) rs104894070
NM_000497.4(CYP11B1):c.780G>A (p.Trp260Ter) rs1554652998
NM_000497.4(CYP11B1):c.841_842insACAGTACACCA (p.Ser281fs) rs775128501
NM_000500.9(CYP21A2):c.1100G>A (p.Arg367His)
NM_000500.9(CYP21A2):c.1225C>T (p.Arg409Cys) rs72552757
NM_000500.9(CYP21A2):c.1451G>A (p.Arg484Gln) rs200005406
NM_000500.9(CYP21A2):c.1451_1452delinsC (p.Arg484fs) rs397509367
NM_000500.9(CYP21A2):c.293-13C>G rs6467
NM_000500.9(CYP21A2):c.332_339del (p.Gly111fs) rs387906510
NM_000500.9(CYP21A2):c.332del (p.Gly111fs) rs1582302950
NM_000500.9(CYP21A2):c.60G>A (p.Trp20Ter) rs746097144
NM_000500.9(CYP21A2):c.710_719delinsACGAGGAGAA (p.Ile237_Met240delinsAsnGluGluLys) rs786204728
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu) rs6471
NM_000500.9(CYP21A2):c.874G>A (p.Gly292Ser) rs201552310
NM_000500.9(CYP21A2):c.923dup (p.Leu308fs) rs267606756
NM_000515.5(GH1):c.291+2T>C rs863223310
NM_000525.4(KCNJ11):c.149G>A (p.Arg50Gln) rs80356611
NM_000525.4(KCNJ11):c.602G>A (p.Arg201His) rs80356624
NM_000525.4(KCNJ11):c.679G>A (p.Glu227Lys) rs587783672
NM_000527.4(LDLR):c.313+1G>A
NM_000527.5(LDLR):c.1911del (p.Asp638fs) rs867272973
NM_000527.5(LDLR):c.680_681del (p.Asp227fs) rs387906305
NM_000530.8(MPZ):c.106A>T (p.Arg36Trp) rs864622732
NM_000530.8(MPZ):c.181G>A (p.Asp61Asn) rs797044845
NM_000530.8(MPZ):c.188C>G (p.Ser63Cys) rs121913585
NM_000530.8(MPZ):c.197G>A (p.Trp66Ter) rs1571819946
NM_000530.8(MPZ):c.233C>T (p.Ser78Leu) rs121913601
NM_000530.8(MPZ):c.242A>G (p.His81Arg) rs121913594
NM_000530.8(MPZ):c.270C>A (p.Asp90Glu) rs121913584
NM_000530.8(MPZ):c.293G>C (p.Arg98Pro) rs121913589
NM_000530.8(MPZ):c.303G>A (p.Trp101Ter) rs1558154149
NM_000530.8(MPZ):c.356A>G (p.Tyr119Cys) rs879254038
NM_000530.8(MPZ):c.371C>T (p.Thr124Met) rs121913595
NM_000530.8(MPZ):c.389A>G (p.Lys130Arg) rs281865127
NM_000530.8(MPZ):c.393C>A (p.Asn131Lys) rs121913599
NM_000530.8(MPZ):c.410G>A (p.Gly137Asp) rs863225025
NM_000530.8(MPZ):c.434_437del (p.Tyr145fs) rs1553259643
NM_000530.8(MPZ):c.646-10_650del rs863225026
NM_000530.8(MPZ):c.646dup (p.Thr216fs) rs1553259511
NM_000530.8(MPZ):c.67+1G>A rs1553260014
NM_000530.8(MPZ):c.77del (p.Pro26fs) rs1558154754
NM_000530.8(MPZ):c.90C>G (p.Ile30Met) rs770546306
NM_000531.6(OTC):c.533C>T (p.Thr178Met) rs72556284
NM_000540.3(RYR1):c.1021G>A (p.Gly341Arg) rs121918592
NM_000540.3(RYR1):c.10627-1G>C rs1568539909
NM_000540.3(RYR1):c.7354C>T (p.Arg2452Trp) rs118192124
NM_000545.5(HNF1A):c.598C>T (p.Arg200Trp) rs193922598
NM_000545.8(HNF1A):c.1080_1081dup (p.Ser361fs) rs2135845384
NM_000545.8(HNF1A):c.1136_1137del (p.Pro379fs) rs1593060890
NM_000545.8(HNF1A):c.1137del (p.Val380fs) rs1555212248
NM_000545.8(HNF1A):c.1140dup (p.Ser381fs) rs1593060912
NM_000545.8(HNF1A):c.1359del (p.Ser454fs) rs1555212359
NM_000545.8(HNF1A):c.1463_1473del (p.Pro488fs) rs1877180449
NM_000545.8(HNF1A):c.1483C>T (p.Gln495Ter) rs1565887211
NM_000545.8(HNF1A):c.1489C>T (p.Gln497Ter) rs1555212396
NM_000545.8(HNF1A):c.1516_1624-30del rs1592897526
NM_000545.8(HNF1A):c.160C>T (p.Arg54Ter) rs766956862
NM_000545.8(HNF1A):c.1641_1642del (p.Glu548fs) rs2135851223
NM_000545.8(HNF1A):c.1747_1766del (p.Arg583fs) rs1592898255
NM_000545.8(HNF1A):c.1A>G (p.Met1Val) rs193922592
NM_000545.8(HNF1A):c.25C>T (p.Gln9Ter) rs2135819387
NM_000545.8(HNF1A):c.326+2T>G rs1555210478
NM_000545.8(HNF1A):c.327-3_327-1del rs1593054210
NM_000545.8(HNF1A):c.335C>T (p.Pro112Leu) rs137853243
NM_000545.8(HNF1A):c.335del (p.Pro112fs)
NM_000545.8(HNF1A):c.370C>T (p.Gln124Ter) rs1565883507
NM_000545.8(HNF1A):c.388C>T (p.Gln130Ter) rs1876669962
NM_000545.8(HNF1A):c.391C>T (p.Arg131Trp) rs137853244
NM_000545.8(HNF1A):c.392G>A (p.Arg131Gln) rs753998395
NM_000545.8(HNF1A):c.434C>T (p.Ser145Phe) rs1555211426
NM_000545.8(HNF1A):c.476G>A (p.Arg159Gln) rs1172328722
NM_000545.8(HNF1A):c.4del (p.Val2fs) rs1555260207
NM_000545.8(HNF1A):c.511C>T (p.Arg171Ter) rs1057520291
NM_000545.8(HNF1A):c.526C>T (p.Gln176Ter) rs754728827
NM_000545.8(HNF1A):c.527-1G>A rs1555211904
NM_000545.8(HNF1A):c.576del (p.Asp192fs) rs2135839075
NM_000545.8(HNF1A):c.685C>T (p.Arg229Ter) rs769086289
NM_000545.8(HNF1A):c.710dup (p.Asn237fs)
NM_000545.8(HNF1A):c.779C>T (p.Thr260Met) rs886039544
NM_000545.8(HNF1A):c.788G>A (p.Arg263His) rs1057520504
NM_000545.8(HNF1A):c.790_791del (p.Val264fs) rs1555211999
NM_000545.8(HNF1A):c.811C>T (p.Arg271Trp) rs886039386
NM_000545.8(HNF1A):c.814C>T (p.Arg272Cys) rs1555212014
NM_000545.8(HNF1A):c.815G>A (p.Arg272His) rs137853238
NM_000545.8(HNF1A):c.864del (p.Pro291fs) rs762703502
NM_000545.8(HNF1A):c.872del (p.Pro291fs) rs587776825
NM_000545.8(HNF1A):c.872dup (p.Gly292fs) rs587776825
NM_000548.5(TSC2):c.1060C>T (p.Gln354Ter) rs45469896
NM_000548.5(TSC2):c.1255C>T (p.Pro419Ser) rs45517159
NM_000548.5(TSC2):c.1257+2T>G rs45509697
NM_000548.5(TSC2):c.1372C>T (p.Arg458Ter) rs45517169
NM_000548.5(TSC2):c.138+2T>C rs137854226
NM_000548.5(TSC2):c.139G>T (p.Glu47Ter) rs1555495676
NM_000548.5(TSC2):c.1439_1440del (p.Phe479_Tyr480insTer)
NM_000548.5(TSC2):c.1444-2A>G rs45517174
NM_000548.5(TSC2):c.1447G>T (p.Glu483Ter) rs397515297
NM_000548.5(TSC2):c.1513C>T (p.Arg505Ter) rs45517179
NM_000548.5(TSC2):c.1599+1G>A rs45517182
NM_000548.5(TSC2):c.1717-12CT[2] rs769094940
NM_000548.5(TSC2):c.1783C>T (p.Gln595Ter) rs45517199
NM_000548.5(TSC2):c.1832G>A (p.Arg611Gln) rs28934872
NM_000548.5(TSC2):c.1840-2_1841delinsTTTTGA rs1555505742
NM_000548.5(TSC2):c.1946+1G>A rs397514994
NM_000548.5(TSC2):c.1959_1960del (p.Gly654fs) rs137854144
NM_000548.5(TSC2):c.2090dup (p.Leu697fs) rs137854189
NM_000548.5(TSC2):c.2108G>A (p.Trp703Ter) rs45517213
NM_000548.5(TSC2):c.2113del (p.Val705fs) rs1555506428
NM_000548.5(TSC2):c.2180del (p.Pro727fs) rs2088578781
NM_000548.5(TSC2):c.2221-1G>A rs45517218
NM_000548.5(TSC2):c.2251C>T (p.Arg751Ter) rs45517222
NM_000548.5(TSC2):c.226-2A>G rs45517096
NM_000548.5(TSC2):c.2353C>T (p.Gln785Ter) rs45517226
NM_000548.5(TSC2):c.2355+2_2355+5del rs137854250
NM_000548.5(TSC2):c.2356-1G>T rs45481704
NM_000548.5(TSC2):c.2356-2A>C rs45517229
NM_000548.5(TSC2):c.2362_2363dup (p.Met788fs) rs2151346636
NM_000548.5(TSC2):c.2479_2480delinsC (p.Val827fs) rs1555507612
NM_000548.5(TSC2):c.2639+1G>A rs45517252
NM_000548.5(TSC2):c.2639+1G>C rs45517252
NM_000548.5(TSC2):c.2666C>T (p.Ala889Val) rs137854155
NM_000548.5(TSC2):c.268C>T (p.Gln90Ter) rs45517099
NM_000548.5(TSC2):c.2713C>T (p.Arg905Trp) rs45517258
NM_000548.5(TSC2):c.2747T>C (p.Leu916Pro) rs137854405
NM_000548.5(TSC2):c.3094C>T (p.Arg1032Ter) rs45465195
NM_000548.5(TSC2):c.3206_3207del (p.Val1069fs) rs137854076
NM_000548.5(TSC2):c.329del (p.Gln110fs) rs1567395826
NM_000548.5(TSC2):c.337-1G>A rs45517105
NM_000548.5(TSC2):c.3401del (p.Gly1134Alafs) rs137854314
NM_000548.5(TSC2):c.3412C>T (p.Arg1138Ter) rs45451497
NM_000548.5(TSC2):c.3448del (p.Leu1150fs) rs1555511352
NM_000548.5(TSC2):c.3547_3548delinsTA (p.Leu1183Ter) rs1567504592
NM_000548.5(TSC2):c.3693_3696del (p.Ser1232fs) rs137853993
NM_000548.5(TSC2):c.3696dup (p.Asn1233Ter) rs137854210
NM_000548.5(TSC2):c.3747_3748del (p.Tyr1250fs) rs1555512486
NM_000548.5(TSC2):c.3791del (p.Pro1264fs) rs137854001
NM_000548.5(TSC2):c.4005+1G>C rs45517324
NM_000548.5(TSC2):c.4096G>T (p.Glu1366Ter) rs45517327
NM_000548.5(TSC2):c.4115_4116del (p.Val1372fs) rs137854368
NM_000548.5(TSC2):c.4147_4163dup (p.Pro1389fs) rs397515009
NM_000548.5(TSC2):c.4180_4181del (p.Leu1394fs) rs137854363
NM_000548.5(TSC2):c.4220_4221del (p.Val1407fs) rs1555514179
NM_000548.5(TSC2):c.4318C>T (p.Gln1440Ter) rs45517337
NM_000548.5(TSC2):c.4369del (p.Arg1457fs) rs1567524236
NM_000548.5(TSC2):c.4494-2A>G rs397514990
NM_000548.5(TSC2):c.4544_4547del (p.Asn1515fs) rs137854175
NM_000548.5(TSC2):c.45dup (p.Lys16Ter) rs397515020
NM_000548.5(TSC2):c.4762C>T (p.Gln1588Ter) rs45479192
NM_000548.5(TSC2):c.4839CAT[1] (p.Ile1614del) rs137854331
NM_000548.5(TSC2):c.4909AAG[1] (p.Lys1638del) rs137854261
NM_000548.5(TSC2):c.4925del (p.Gly1642fs) rs137854156
NM_000548.5(TSC2):c.4934_4935del (p.Phe1645fs) rs137854141
NM_000548.5(TSC2):c.4989+1G>A rs45517386
NM_000548.5(TSC2):c.4990-1G>A rs1555439650
NM_000548.5(TSC2):c.5018T>G (p.Val1673Gly) rs397515067
NM_000548.5(TSC2):c.5024C>T (p.Pro1675Leu) rs45483392
NM_000548.5(TSC2):c.5028_5032dup (p.Tyr1678fs) rs1555439753
NM_000548.5(TSC2):c.5056C>T (p.Gln1686Ter) rs45517388
NM_000548.5(TSC2):c.5078del (p.Gly1693fs) rs1555440022
NM_000548.5(TSC2):c.5126C>G (p.Pro1709Arg) rs45517393
NM_000548.5(TSC2):c.5160+1G>A rs45517399
NM_000548.5(TSC2):c.5170C>T (p.Gln1724Ter) rs45472701
NM_000548.5(TSC2):c.5227C>T (p.Arg1743Trp) rs45517412
NM_000548.5(TSC2):c.5228G>A (p.Arg1743Gln) rs45507199
NM_000548.5(TSC2):c.5238_5255del (p.His1746_Arg1751del) rs137854218
NM_000548.5(TSC2):c.5252_5259+19del rs137854397
NM_000548.5(TSC2):c.5254C>T (p.Gln1752Ter) rs45517414
NM_000548.5(TSC2):c.5259+1del rs137854317
NM_000548.5(TSC2):c.5289del (p.Ser1764fs) rs1555441221
NM_000548.5(TSC2):c.569dup (p.Tyr190Ter) rs137854359
NM_000548.5(TSC2):c.646G>T (p.Glu216Ter) rs45517118
NM_000548.5(TSC2):c.648+1G>A rs45488893
NM_000548.5(TSC2):c.826_827del (p.Met276fs) rs137853977
NM_000548.5(TSC2):c.848+1G>A rs45466296
NM_000548.5(TSC2):c.848+2T>G rs1555499119
NM_000551.4(VHL):c.463+1G>A rs869025657
NM_000551.4(VHL):c.470C>T (p.Thr157Ile) rs869025660
NM_000702.4(ATP1A2):c.1091C>T (p.Thr364Met) rs1553244881
NM_000702.4(ATP1A2):c.2143G>A (p.Gly715Arg) rs1553245771
NM_000702.4(ATP1A2):c.2563G>A (p.Gly855Arg) rs1553245857
NM_000702.4(ATP1A2):c.788C>T (p.Thr263Met) rs777400961
NM_000720.4(CACNA1D):c.1208G>A (p.Gly403Asp) rs386834264
NM_000747.3(CHRNB1):c.823G>T (p.Glu275Ter) rs1908992563
NM_000860.6(HPGD):c.218-1G>A
NM_000891.3(KCNJ2):c.199C>T (p.Arg67Trp) rs104894580
NM_000891.3(KCNJ2):c.652C>T (p.Arg218Trp) rs104894578
NM_000901.5(NR3C2):c.2194C>T (p.Arg732Ter)
NM_000901.5(NR3C2):c.2457C>A (p.Tyr819Ter)
NM_001005242.3(PKP2):c.1511del (p.Gly504fs) rs794729137
NM_001005361.3(DNM2):c.1072G>A (p.Gly358Arg) rs267606772
NM_001005361.3(DNM2):c.1565G>A (p.Arg522His) rs587783595
NM_001009944.3(PKD1):c.10026dup (p.Leu3343fs) rs1567169118
NM_001009944.3(PKD1):c.10084C>T (p.Gln3362Ter) rs1567166045
NM_001009944.3(PKD1):c.10167+25_10167+43del rs1197421698
NM_001009944.3(PKD1):c.10233del (p.Trp3411fs) rs1596501760
NM_001009944.3(PKD1):c.10417_10419delinsT (p.Ile3473fs) rs1567164013
NM_001009944.3(PKD1):c.10618+2T>G rs1555447153
NM_001009944.3(PKD1):c.10745dup (p.Val3584fs) rs1555447011
NM_001009944.3(PKD1):c.109del (p.Cys37fs) rs2151858299
NM_001009944.3(PKD1):c.11017-10C>A rs555703777
NM_001009944.3(PKD1):c.11058_11077del (p.Ala3687fs) rs1555446611
NM_001009944.3(PKD1):c.1105_1106del (p.Gln368_Ser369insTer)
NM_001009944.3(PKD1):c.11161dup (p.Glu3721fs) rs2151702333
NM_001009944.3(PKD1):c.11176T>C (p.Trp3726Arg) rs1555446411
NM_001009944.3(PKD1):c.11274_11275del (p.Tyr3759fs) rs1555446105
NM_001009944.3(PKD1):c.11343C>G (p.Tyr3781Ter) rs2091619053
NM_001009944.3(PKD1):c.11344del (p.Asp3782fs) rs2091618928
NM_001009944.3(PKD1):c.11412-2A>C rs1555445771
NM_001009944.3(PKD1):c.11453dup (p.Tyr3819fs) rs1567153194
NM_001009944.3(PKD1):c.11471del (p.Gly3824fs)
NM_001009944.3(PKD1):c.11633_11660dup (p.Phe3888fs) rs2151695288
NM_001009944.3(PKD1):c.11713-1G>A rs867092741
NM_001009944.3(PKD1):c.11713-2A>G rs1555445274
NM_001009944.3(PKD1):c.11930dup (p.Asp3978fs) rs2151686766
NM_001009944.3(PKD1):c.11944C>T (p.Gln3982Ter) rs1161012209
NM_001009944.3(PKD1):c.12031C>T (p.Gln4011Ter) rs1555444985
NM_001009944.3(PKD1):c.12124C>T (p.Gln4042Ter) rs199476094
NM_001009944.3(PKD1):c.12448C>T (p.Arg4150Cys) rs1282668884
NM_001009944.3(PKD1):c.12682C>T (p.Arg4228Ter) rs199476095
NM_001009944.3(PKD1):c.12711C>G (p.Tyr4237Ter) rs906771712
NM_001009944.3(PKD1):c.12712C>T (p.Gln4238Ter) rs1045675831
NM_001009944.3(PKD1):c.1307_1308del (p.Cys436fs) rs1555458891
NM_001009944.3(PKD1):c.1538_1539delinsG (p.Pro513fs)
NM_001009944.3(PKD1):c.165_171del (p.Leu56fs) rs1555462438
NM_001009944.3(PKD1):c.1723-1G>A rs1596582948
NM_001009944.3(PKD1):c.2085dup (p.Ala696fs) rs1567212531
NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro) rs1616940
NM_001009944.3(PKD1):c.2534T>C (p.Leu845Ser) rs199476100
NM_001009944.3(PKD1):c.2677_2678del (p.Leu893fs) rs1567210080
NM_001009944.3(PKD1):c.2867dup (p.Val957fs) rs1567208136
NM_001009944.3(PKD1):c.3247_3253del (p.Ala1083fs) rs1567205637
NM_001009944.3(PKD1):c.3296-1G>C rs1567204631
NM_001009944.3(PKD1):c.3296-4_3304del
NM_001009944.3(PKD1):c.3349C>T (p.Gln1117Ter) rs755084885
NM_001009944.3(PKD1):c.3601_3620del (p.Ala1201fs) rs778028967
NM_001009944.3(PKD1):c.3G>A (p.Met1Ile) rs1567233098
NM_001009944.3(PKD1):c.4070del (p.Leu1357fs) rs1596560540
NM_001009944.3(PKD1):c.4242G>A (p.Trp1414Ter)
NM_001009944.3(PKD1):c.4306C>T (p.Arg1436Ter) rs1567200516
NM_001009944.3(PKD1):c.4444C>T (p.Gln1482Ter) rs1567200117
NM_001009944.3(PKD1):c.4797C>A (p.Tyr1599Ter) rs202110519
NM_001009944.3(PKD1):c.5018del (p.Gly1673fs) rs1596556800
NM_001009944.3(PKD1):c.5395C>T (p.Gln1799Ter) rs2092452489
NM_001009944.3(PKD1):c.5413del (p.Leu1805fs) rs2092452089
NM_001009944.3(PKD1):c.5481dup (p.Gln1828fs) rs1596555170
NM_001009944.3(PKD1):c.5678G>A (p.Trp1893Ter) rs2092446562
NM_001009944.3(PKD1):c.6193del (p.Ala2065fs) rs1555454620
NM_001009944.3(PKD1):c.6307C>T (p.Gln2103Ter) rs1555454512
NM_001009944.3(PKD1):c.6487C>T (p.Arg2163Ter) rs1555454411
NM_001009944.3(PKD1):c.6587_6593dup (p.Gly2199fs) rs1567192229
NM_001009944.3(PKD1):c.6727C>T (p.Gln2243Ter) rs1567191609
NM_001009944.3(PKD1):c.6727_6728del (p.Gln2243fs) rs1567191601
NM_001009944.3(PKD1):c.6759_6760delinsT (p.Glu2254fs)
NM_001009944.3(PKD1):c.6806C>G (p.Ser2269Ter) rs1567191179
NM_001009944.3(PKD1):c.6994_7000del (p.Ala2332fs) rs1555453872
NM_001009944.3(PKD1):c.7045del (p.Glu2349fs) rs1596548114
NM_001009944.3(PKD1):c.7060C>T (p.Gln2354Ter) rs2092400157
NM_001009944.3(PKD1):c.7113_7114del (p.Ser2372fs) rs1567187389
NM_001009944.3(PKD1):c.7126C>T (p.Gln2376Ter) rs1555453395
NM_001009944.3(PKD1):c.7164C>G (p.Tyr2388Ter) rs1555453372
NM_001009944.3(PKD1):c.7204C>T (p.Arg2402Ter) rs1567186946
NM_001009944.3(PKD1):c.7704-2_7712del rs1555452738
NM_001009944.3(PKD1):c.7784_7785dup (p.Leu2596fs) rs1567183633
NM_001009944.3(PKD1):c.7833C>G (p.Tyr2611Ter) rs138871063
NM_001009944.3(PKD1):c.8017-1G>C rs2092263886
NM_001009944.3(PKD1):c.8017-1dup rs1555452047
NM_001009944.3(PKD1):c.8017-2A>G rs1567180640
NM_001009944.3(PKD1):c.8045C>A (p.Ser2682Ter) rs151308544
NM_001009944.3(PKD1):c.8162-1G>A rs1555451430
NM_001009944.3(PKD1):c.8218G>T (p.Gly2740Ter) rs1555451368
NM_001009944.3(PKD1):c.8309_8318delinsTGACGCTGACGGGCGGG (p.Asn2770fs) rs2092202856
NM_001009944.3(PKD1):c.8333del (p.Gly2778fs) rs1567178000
NM_001009944.3(PKD1):c.856_862del (p.Ser286_Gly287insTer) rs1555459108
NM_001009944.3(PKD1):c.8698C>T (p.Gln2900Ter) rs1567176750
NM_001009944.3(PKD1):c.8704C>T (p.Gln2902Ter) rs1555450968
NM_001009944.3(PKD1):c.8754_8758del (p.Gly2919fs) rs1596525695
NM_001009944.3(PKD1):c.8873C>A (p.Ser2958Ter) rs750780241
NM_001009944.3(PKD1):c.8972dup (p.Tyr2991Ter) rs1567174997
NM_001009944.3(PKD1):c.9013C>T (p.Gln3005Ter)
NM_001009944.3(PKD1):c.9202-10_9218del rs1596521250
NM_001009944.3(PKD1):c.9240_9241del (p.Ala3082fs) rs1567173924
NM_001009944.3(PKD1):c.924_948delinsTGGAT (p.Asp309fs) rs1555459056
NM_001009944.3(PKD1):c.9347_9350dup (p.Phe3118fs) rs2151748289
NM_001009944.3(PKD1):c.9404C>T (p.Thr3135Met) rs1555449635
NM_001009944.3(PKD1):c.9412dup (p.Val3138fs) rs1567171493
NM_001009944.3(PKD1):c.9568+1G>T rs2092046394
NM_001009944.3(PKD1):c.9729dup (p.Arg3244fs) rs2092027387
NM_001009944.3(PKD1):c.974A>G (p.Tyr325Cys) rs1232180956
NM_001009944.3(PKD1):c.9800G>A (p.Trp3267Ter) rs1460604173
NM_001009944.3(PKD1):c.9856CTC[1] (p.Leu3287del) rs2092020811
NM_001009944.3(PKD1):c.9885del (p.Asn3295fs) rs1596512492
NM_001012763.1(GNRHR):c.30_31delinsAA (p.Asn10_Gln11delinsLysLys) rs281865427
NM_001032221.6(STXBP1):c.1651C>T (p.Arg551Cys) rs796053373
NM_001040142.2(SCN2A):c.2558G>A (p.Arg853Gln) rs794727152
NM_001040142.2(SCN2A):c.304C>T (p.Arg102Ter) rs387906683
NM_001040142.2(SCN2A):c.788C>T (p.Ala263Val) rs387906686
NM_001042432.2(CLN3):c.597C>A (p.Tyr199Ter) rs267606737
NM_001042492.3(NF1):c.1062G>C (p.Lys354Asn) rs1131691118
NM_001042492.3(NF1):c.1440del (p.Lys480fs) rs2066786100
NM_001042492.3(NF1):c.147del (p.Lys48_Tyr49insTer) rs1597626031
NM_001042492.3(NF1):c.1682_1688dup (p.Asp564fs) rs2144004346
NM_001042492.3(NF1):c.1721+1G>C rs1131691096
NM_001042492.3(NF1):c.1721+3A>G rs1057518904
NM_001042492.3(NF1):c.1756_1759del (p.Thr586fs) rs786202782
NM_001042492.3(NF1):c.1885G>A (p.Gly629Arg) rs199474738
NM_001042492.3(NF1):c.1929dup (p.Ser644fs) rs2066991676
NM_001042492.3(NF1):c.233del (p.Asn78fs) rs1438566555
NM_001042492.3(NF1):c.2410-1G>C rs1057518792
NM_001042492.3(NF1):c.288+4A>G rs781459468
NM_001042492.3(NF1):c.2991-1G>A rs1060500273
NM_001042492.3(NF1):c.3113+2T>C rs876658997
NM_001042492.3(NF1):c.3222_3223del (p.Glu1074fs) rs2067122558
NM_001042492.3(NF1):c.3457_3460del (p.Leu1153fs) rs1321848637
NM_001042492.3(NF1):c.3820_3823del (p.Leu1274fs)
NM_001042492.3(NF1):c.3822_3823del (p.Phe1275fs) rs1555615472
NM_001042492.3(NF1):c.3916C>T (p.Arg1306Ter) rs376576925
NM_001042492.3(NF1):c.4084C>T (p.Arg1362Ter) rs137854560
NM_001042492.3(NF1):c.479+1G>A rs1555606137
NM_001042492.3(NF1):c.503C>G (p.Ser168Ter) rs1131691994
NM_001042492.3(NF1):c.5067C>A (p.Tyr1689Ter) rs756708811
NM_001042492.3(NF1):c.5305C>T (p.Arg1769Ter) rs876657714
NM_001042492.3(NF1):c.5806_5812+1del rs2069454695
NM_001042492.3(NF1):c.5902C>T (p.Arg1968Ter) rs137854552
NM_001042492.3(NF1):c.6669C>A (p.Cys2223Ter) rs1555534918
NM_001042492.3(NF1):c.6852_6855del (p.Tyr2285fs) rs1555535032
NM_001042492.3(NF1):c.6855C>A (p.Tyr2285Ter) rs772295894
NM_001042492.3(NF1):c.7153AACTTT[1] (p.2385NF[1]) rs864622639
NM_001042492.3(NF1):c.7184del (p.Leu2394_Leu2395insTer) rs2069870374
NM_001042492.3(NF1):c.7284del (p.Lys2428fs) rs2070077334
NM_001042492.3(NF1):c.731-2A>G rs1555608924
NM_001042492.3(NF1):c.7348C>T (p.Arg2450Ter) rs786202457
NM_001042492.3(NF1):c.7368del (p.Lys2456fs)
NM_001042492.3(NF1):c.7428del (p.Ile2478fs)
NM_001042492.3(NF1):c.7549C>T (p.Arg2517Ter) rs866445127
NM_001042492.3(NF1):c.7778del (p.Leu2593fs) rs1567626919
NM_001042492.3(NF1):c.7970+1G>A rs1555536773
NM_001042492.3(NF1):c.889-2A>G rs878853922
NM_001077365.2(POMT1):c.1298_1299del (p.Thr433fs)
NM_001110556.2(FLNA):c.4599-1G>A rs1057518223
NM_001110556.2(FLNA):c.623-2A>G
NM_001110792.2(MECP2):c.1193_1236del (p.Leu398fs) rs63749748
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.535C>T (p.Arg179Trp) rs61748420
NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter) rs61748421
NM_001110792.2(MECP2):c.820C>T (p.Gln274Ter) rs267608525
NM_001110792.2(MECP2):c.842del (p.Gly281fs) rs61750241
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter) rs61751362
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys) rs28935468
NM_001112741.2(KCNC1):c.959G>A (p.Arg320His) rs727502818
NM_001113491.2(SEPTIN9):c.316C>T (p.Arg106Trp) rs80338761
NM_001122955.4(BSCL2):c.974dup (p.Ile326fs) rs749890533
NM_001126108.2(SLC12A3):c.2533del (p.Leu845fs) rs754378340
NM_001126108.2(SLC12A3):c.2817G>A (p.Trp939Ter) rs760134110
NM_001126108.2(SLC12A3):c.73del (p.Leu25fs) rs1555499123
NM_001127222.2(CACNA1A):c.1198+1G>A rs1057518513
NM_001127222.2(CACNA1A):c.1360C>T (p.Arg454Ter) rs886039668
NM_001127222.2(CACNA1A):c.1500_1521del (p.Leu501fs) rs1555762855
NM_001127222.2(CACNA1A):c.1745G>A (p.Arg582Gln) rs121908217
NM_001127222.2(CACNA1A):c.1781del (p.Lys594fs) rs1600293149
NM_001127222.2(CACNA1A):c.1785C>G (p.Tyr595Ter) rs2057948502
NM_001127222.2(CACNA1A):c.1994C>T (p.Thr665Met) rs121908212
NM_001127222.2(CACNA1A):c.2006G>A (p.Trp669Ter) rs1555757537
NM_001127222.2(CACNA1A):c.2026G>A (p.Gly676Arg) rs2144980758
NM_001127222.2(CACNA1A):c.2039_2040del (p.Gln680fs) rs1064794262
NM_001127222.2(CACNA1A):c.2557_2586delinsGT (p.Arg853fs)
NM_001127222.2(CACNA1A):c.2723_2738delinsTG (p.Gly908fs)
NM_001127222.2(CACNA1A):c.2734C>T (p.Gln912Ter) rs1555756161
NM_001127222.2(CACNA1A):c.2955_2958dup (p.Arg987fs)
NM_001127222.2(CACNA1A):c.2996dup (p.Glu1000fs) rs2057721188
NM_001127222.2(CACNA1A):c.3215del (p.Lys1072fs) rs1555753042
NM_001127222.2(CACNA1A):c.3692+1G>A rs1315533129
NM_001127222.2(CACNA1A):c.3694dup (p.Leu1232fs) rs1568493323
NM_001127222.2(CACNA1A):c.3914_3936del (p.Gly1305fs) rs2057136334
NM_001127222.2(CACNA1A):c.3925dup (p.Arg1309fs) rs1568485109
NM_001127222.2(CACNA1A):c.4033C>T (p.Arg1345Ter) rs1568473233
NM_001127222.2(CACNA1A):c.4034G>A (p.Arg1345Gln) rs121908230
NM_001127222.2(CACNA1A):c.4043G>A (p.Arg1348Gln) rs1057520918
NM_001127222.2(CACNA1A):c.4051C>T (p.Arg1351Ter) rs1568473171
NM_001127222.2(CACNA1A):c.4072C>T (p.Arg1358Trp) rs1555745461
NM_001127222.2(CACNA1A):c.41del (p.Gly14fs) rs1555797179
NM_001127222.2(CACNA1A):c.439G>A (p.Glu147Lys) rs1568659847
NM_001127222.2(CACNA1A):c.4633C>T (p.Arg1545Ter) rs121909324
NM_001127222.2(CACNA1A):c.4663C>T (p.Gln1555Ter) rs1600180457
NM_001127222.2(CACNA1A):c.4950+3662G>T rs1600152215
NM_001127222.2(CACNA1A):c.507G>A (p.Trp169Ter) rs2144936148
NM_001127222.2(CACNA1A):c.5529-1231C>T rs1296262946
NM_001127222.2(CACNA1A):c.592C>T (p.Arg198Ter) rs886042230
NM_001127222.2(CACNA1A):c.6028C>T (p.Gln2010Ter) rs1355062450
NM_001130438.3(SPTAN1):c.6616GAG[1] (p.Glu2207del) rs587784438
NM_001130987.2(DYSF):c.110_111del (p.Lys37fs) rs398123764
NM_001130987.2(DYSF):c.1263_1276+1dup rs863225019
NM_001130987.2(DYSF):c.1464C>A (p.Cys488Ter) rs202044973
NM_001130987.2(DYSF):c.1488dup (p.Asp497fs) rs398123767
NM_001130987.2(DYSF):c.1576G>T (p.Val526Leu) rs886044537
NM_001130987.2(DYSF):c.167dup (p.Ile58fs) rs863225020
NM_001130987.2(DYSF):c.1812C>G (p.Tyr604Ter) rs1553543506
NM_001130987.2(DYSF):c.3166C>T (p.Arg1056Ter) rs369607332
NM_001130987.2(DYSF):c.3570_3571del (p.Phe1190_Ser1191insTer) rs766341386
NM_001130987.2(DYSF):c.3571dup (p.Ser1191fs) rs766341386
NM_001130987.2(DYSF):c.4551G>A (p.Trp1517Ter) rs766016391
NM_001130987.2(DYSF):c.5383C>T (p.Gln1795Ter) rs727503912
NM_001130987.2(DYSF):c.5546G>A (p.Arg1849Lys) rs786205084
NM_001130987.2(DYSF):c.5815_5816del (p.Ser1939fs) rs398123796
NM_001130987.2(DYSF):c.5953_5956del (p.Gln1985fs) rs398123797
NM_001130987.2(DYSF):c.706C>T (p.Arg236Ter) rs373585652
NM_001136472.2(LITAF):c.334G>A (p.Gly112Ser) rs104894519
NM_001136472.2(LITAF):c.344C>A (p.Thr115Asn) rs104894520
NM_001151.4(SLC25A4):c.523del (p.Gln175fs) rs863224209
NM_001159699.2(FHL1):c.406_409dup (p.Val137fs) rs1569530437
NM_001159699.2(FHL1):c.640C>T (p.Gln214Ter) rs1603272223
NM_001164508.2(NEB):c.6184-2A>G rs1575300582
NM_001165963.4(SCN1A):c.1028+1G>T rs863225030
NM_001165963.4(SCN1A):c.1034G>A (p.Cys345Tyr) rs1057518243
NM_001165963.4(SCN1A):c.1178G>A (p.Arg393His) rs121917927
NM_001165963.4(SCN1A):c.1216G>T (p.Val406Phe) rs121918768
NM_001165963.4(SCN1A):c.1277A>G (p.Tyr426Cys) rs796052973
NM_001165963.4(SCN1A):c.1837C>T (p.Arg613Ter) rs398123585
NM_001165963.4(SCN1A):c.2134C>T (p.Arg712Ter) rs794726730
NM_001165963.4(SCN1A):c.2173G>T (p.Glu725Ter) rs1553543828
NM_001165963.4(SCN1A):c.2177-1G>C rs763400390
NM_001165963.4(SCN1A):c.249C>A (p.Tyr83Ter) rs863225031
NM_001165963.4(SCN1A):c.2589+3A>T rs794726775
NM_001165963.4(SCN1A):c.264+5G>A rs794726762
NM_001165963.4(SCN1A):c.2792G>A (p.Arg931His) rs794726718
NM_001165963.4(SCN1A):c.2836C>T (p.Arg946Cys) rs121918775
NM_001165963.4(SCN1A):c.2837G>A (p.Arg946His)
NM_001165963.4(SCN1A):c.302G>T (p.Arg101Leu) rs121917918
NM_001165963.4(SCN1A):c.3306C>A (p.Tyr1102Ter) rs863225032
NM_001165963.4(SCN1A):c.3496C>T (p.Gln1166Ter) rs368609628
NM_001165963.4(SCN1A):c.3637C>T (p.Arg1213Ter) rs794726710
NM_001165963.4(SCN1A):c.3657G>A (p.Trp1219Ter) rs863225033
NM_001165963.4(SCN1A):c.3733C>T (p.Arg1245Ter) rs727504136
NM_001165963.4(SCN1A):c.3852del (p.Trp1284fs) rs863225034
NM_001165963.4(SCN1A):c.386T>G (p.Leu129Ter) rs2105909995
NM_001165963.4(SCN1A):c.3985C>T (p.Arg1329Ter) rs796053004
NM_001165963.4(SCN1A):c.4266T>A (p.Tyr1422Ter) rs863225035
NM_001165963.4(SCN1A):c.4338+1G>T rs1553523138
NM_001165963.4(SCN1A):c.4476+1A>G rs796053014
NM_001165963.4(SCN1A):c.4476G>A (p.Lys1492=) rs1085307730
NM_001165963.4(SCN1A):c.4477-2A>G rs863225036
NM_001165963.4(SCN1A):c.4547C>A (p.Ser1516Ter) rs139300715
NM_001165963.4(SCN1A):c.4573C>T (p.Arg1525Ter) rs794726752
NM_001165963.4(SCN1A):c.4786C>T (p.Arg1596Cys) rs121917993
NM_001165963.4(SCN1A):c.4787G>A (p.Arg1596His) rs575368466
NM_001165963.4(SCN1A):c.4838_4843delinsCAAAATGGTAGGTTGTCTTACCTA (p.Ile1613_Ser1615delinsThrLysTrpTer)
NM_001165963.4(SCN1A):c.4853-1G>C rs1553520530
NM_001165963.4(SCN1A):c.4906C>T (p.Arg1636Ter) rs199727342
NM_001165963.4(SCN1A):c.4942C>T (p.Arg1648Cys) rs121918791
NM_001165963.4(SCN1A):c.5436G>A (p.Trp1812Ter) rs863225037
NM_001165963.4(SCN1A):c.559_602+6del rs1553551304
NM_001165963.4(SCN1A):c.5656C>T (p.Arg1886Ter) rs779614747
NM_001165963.4(SCN1A):c.680T>G (p.Ile227Ser) rs121917937
NM_001165963.4(SCN1A):c.992dup (p.Leu331fs) rs863225038
NM_001166114.2(PNPLA6):c.3058_3061dup (p.Arg1021fs) rs606231167
NM_001184880.2(PCDH19):c.1019A>G (p.Asn340Ser) rs796052839
NM_001184880.2(PCDH19):c.1098C>G (p.Tyr366Ter) rs1239794408
NM_001184880.2(PCDH19):c.1133C>G (p.Ser378Ter) rs1555985301
NM_001184880.2(PCDH19):c.169C>T (p.Gln57Ter) rs1367823627
NM_001184880.2(PCDH19):c.209_210del (p.His70fs) rs1555985799
NM_001184880.2(PCDH19):c.2122A>T (p.Lys708Ter) rs1569314119
NM_001184880.2(PCDH19):c.2656C>T (p.Arg886Ter) rs756414485
NM_001184880.2(PCDH19):c.859G>T (p.Glu287Ter) rs1555985427
NM_001242896.3(DEPDC5):c.336_337del (p.Asp113fs) rs1085307452
NM_001267550.2(TTN):c.107377+1G>C rs112188483
NM_001267550.2(TTN):c.107780_107790delinsTGAAAGAAAAA (p.Glu35927_Trp35930delinsValLysGluLys) rs281864927
NM_001267550.2(TTN):c.107889del (p.Lys35963fs) rs281864930
NM_001267550.2(TTN):c.95134T>C (p.Cys31712Arg) rs869320740
NM_001271.4(CHD2):c.2536C>T (p.Arg846Ter) rs2141839141
NM_001282531.3(ADNP):c.2496_2499del (p.Asn832fs) rs587777523
NM_001323289.2(CDKL5):c.175C>T (p.Arg59Ter) rs62653623
NM_001330260.2(SCN8A):c.3979A>G (p.Ile1327Val) rs879255704
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_001368067.1(LDB3):c.439G>A (p.Ala147Thr) rs121908333
NM_001368067.1(LDB3):c.494C>T (p.Ala165Val) rs121908334
NM_001370259.2(MEN1):c.1252G>A (p.Asp418Asn) rs104894264
NM_001370259.2(MEN1):c.1308G>T (p.Trp436Cys) rs398124435
NM_001370259.2(MEN1):c.1546del (p.Arg516fs) rs767319284
NM_001370259.2(MEN1):c.1546dup (p.Arg516fs) rs767319284
NM_001370259.2(MEN1):c.202_206dup (p.Asp70fs) rs730882136
NM_001370259.2(MEN1):c.249_252del (p.Ile85fs) rs587776841
NM_001370259.2(MEN1):c.402del (p.Phe134fs) rs397515385
NM_001370259.2(MEN1):c.828C>A (p.Tyr276Ter) rs1060503789
NM_001370259.2(MEN1):c.943del (p.Asp315fs)
NM_001370298.3(FGD4):c.1363_1364del (p.Glu455fs) rs771606350
NM_001371279.1(REEP1):c.161del (p.Phe54fs)
NM_001371279.1(REEP1):c.450dup (p.Phe151fs) rs2104054109
NM_001371279.1(REEP1):c.59C>A (p.Ala20Glu) rs121918262
NM_001377265.1(MAPT):c.2078C>T (p.Pro693Leu) rs63751273
NM_001377265.1(MAPT):c.2091+16C>T rs63751011
NM_001377265.1(MAPT):c.2091+3G>A rs63750013
NM_001378969.1(KCND3):c.1130C>T (p.Thr377Met) rs1571636501
NM_001540.5(HSPB1):c.116C>T (p.Pro39Leu) rs557327165
NM_001540.5(HSPB1):c.250G>A (p.Gly84Arg) rs770272088
NM_001540.5(HSPB1):c.379C>T (p.Arg127Trp) rs29001571
NM_001540.5(HSPB1):c.404C>T (p.Ser135Phe) rs28939680
NM_001540.5(HSPB1):c.407G>T (p.Arg136Leu) rs863225022
NM_001540.5(HSPB1):c.418C>G (p.Arg140Gly) rs121909112
NM_001540.5(HSPB1):c.539C>T (p.Thr180Ile) rs1422978230
NM_001614.5(ACTG1):c.773C>T (p.Pro258Leu) rs11549191
NM_001845.6(COL4A1):c.2263G>A (p.Gly755Arg) rs672601346
NM_001845.6(COL4A1):c.2291G>A (p.Gly764Asp) rs1566353677
NM_001845.6(COL4A1):c.2870G>A (p.Gly957Glu) rs2139162781
NM_001848.3(COL6A1):c.850G>A (p.Gly284Arg) rs121912938
NM_001854.4(COL11A1):c.3816+1G>A rs398122828
NM_001927.4(DES):c.1034T>C (p.Leu345Pro) rs57639980
NM_001927.4(DES):c.1109T>C (p.Leu370Pro) rs59308628
NM_001961.4(EEF2):c.1787C>A (p.Pro596His) rs587777052
NM_002047.4(GARS1):c.1000A>T (p.Ile334Phe) rs1554338260
NM_002047.4(GARS1):c.794C>T (p.Ser265Phe) rs1554337974
NM_002055.5(GFAP):c.262C>T (p.Arg88Cys) rs61622935
NM_002055.5(GFAP):c.772C>T (p.Arg258Cys) rs797044578
NM_002087.4(GRN):c.102del (p.Gly35fs) rs63751073
NM_002087.4(GRN):c.1072C>T (p.Gln358Ter) rs1555611293
NM_002087.4(GRN):c.1073_1074dup (p.Ala359fs) rs1567887567
NM_002087.4(GRN):c.1252C>T (p.Arg418Ter) rs63751180
NM_002087.4(GRN):c.1414-2A>G rs1555611412
NM_002087.4(GRN):c.1420_1421del (p.Cys474fs) rs2048384991
NM_002087.4(GRN):c.1465_1469dup (p.Lys491fs) rs1555611439
NM_002087.4(GRN):c.26C>A (p.Ala9Asp) rs63751243
NM_002087.4(GRN):c.328C>T (p.Arg110Ter) rs63750411
NM_002087.4(GRN):c.388_391del (p.Gln130fs) rs63749801
NM_002087.4(GRN):c.592_593del (p.Arg198fs) rs1555611136
NM_002087.4(GRN):c.599-1G>A rs1555611154
NM_002087.4(GRN):c.675_676del (p.Ser226fs) rs63751085
NM_002087.4(GRN):c.768_769dup (p.Gln257fs) rs1567887004
NM_002087.4(GRN):c.813_816del (p.Thr272fs) rs63749877
NM_002087.4(GRN):c.898C>T (p.Gln300Ter) rs1555611253
NM_002087.4(GRN):c.911G>A (p.Trp304Ter) rs63751177
NM_002693.3(POLG):c.1270_1271del (p.Leu424fs) rs796052908
NM_002693.3(POLG):c.2828G>A (p.Arg943His) rs1567186613
NM_002693.3(POLG):c.2864A>G (p.Tyr955Cys) rs113994099
NM_002693.3(POLG):c.[1760C>T;752C>T]
NM_002739.5(PRKCG):c.380A>G (p.Gln127Arg) rs121918515
NM_002739.5(PRKCG):c.413T>A (p.Val138Glu) rs386134168
NM_002834.5(PTPN11):c.1471C>T (p.Pro491Ser) rs397507539
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp) rs397507520
NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys) rs121918456
NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser) rs121918455
NM_002880.4(RAF1):c.776C>T (p.Ser259Phe) rs397516827
NM_003119.3(SPG7):c.1454_1462delGGCGGGAGA (p.Arg485_Glu487del) rs768823392
NM_003119.4(SPG7):c.1053dup (p.Gly352fs) rs760818649
NM_003119.4(SPG7):c.861dup (p.Asn288Ter) rs797046003
NM_003119.4(SPG7):c.934dup (p.Ala312fs) rs2058330715
NM_003119.4(SPG7):c.976_987+3del rs878854606
NM_003361.4(UMOD):c.529_555del (p.His177_Arg185del) rs1555487528
NM_003361.4(UMOD):c.553C>T (p.Arg185Cys) rs1567310155
NM_003361.4(UMOD):c.610C>G (p.Arg204Gly) rs1567310019
NM_003361.4(UMOD):c.944G>A (p.Cys315Tyr) rs398123698
NM_003482.4(KMT2D):c.13090C>T (p.Gln4364Ter)
NM_003482.4(KMT2D):c.16391_16392insAG (p.Leu5465fs)
NM_003482.4(KMT2D):c.3588dup (p.Pro1197fs)
NM_003482.4(KMT2D):c.5124_5125del (p.Arg1709fs) rs886043506
NM_003482.4(KMT2D):c.9265dup (p.Val3089fs) rs1333678798
NM_003494.3(DYSF):c.2779del (p.Ala927Leufs) rs727503909
NM_003494.4(DYSF):c.1481-1G>A rs398123770
NM_003632.3(CNTNAP1):c.984del (p.Phe329fs)
NM_003673.4(TCAP):c.26_33dup (p.Glu12fs) rs778568339
NM_003919.3(SGCE):c.232+1G>A rs1057517990
NM_003919.3(SGCE):c.289C>T (p.Arg97Ter) rs121908489
NM_003919.3(SGCE):c.402C>A (p.Tyr134Ter) rs1554355416
NM_003919.3(SGCE):c.439dup (p.Ile147fs) rs1584663596
NM_003919.3(SGCE):c.619del (p.Arg207fs) rs1554352819
NM_003919.3(SGCE):c.663del (p.Val222fs) rs1562812370
NM_003919.3(SGCE):c.692del (p.Pro231fs) rs1562812136
NM_003919.3(SGCE):c.711del (p.Glu238fs) rs1562811980
NM_003919.3(SGCE):c.826-1G>A
NM_003919.3(SGCE):c.826-2A>G rs1554343985
NM_003919.3(SGCE):c.835_839del (p.Thr279fs) rs863223283
NM_003919.3(SGCE):c.838A>T (p.Lys280Ter) rs1562806273
NM_003919.3(SGCE):c.880dup (p.Ile294fs) rs1562805960
NM_003919.3(SGCE):c.903C>G (p.Tyr301Ter)
NM_004004.5(GJB2):c.592_600delGTGTCTGGAins17 (p.?)
NM_004004.6(GJB2):c.139G>A (p.Glu47Lys)
NM_004004.6(GJB2):c.176_191del (p.Gly59fs) rs750188782
NM_004004.6(GJB2):c.231G>A (p.Trp77Ter) rs80338944
NM_004004.6(GJB2):c.235del (p.Leu79fs) rs80338943
NM_004004.6(GJB2):c.250G>A (p.Val84Met) rs104894409
NM_004004.6(GJB2):c.250G>C (p.Val84Leu) rs104894409
NM_004004.6(GJB2):c.313_326del (p.Lys105fs) rs111033253
NM_004004.6(GJB2):c.334_335del (p.Lys112fs) rs756484720
NM_004004.6(GJB2):c.355GAG[1] (p.Glu120del) rs80338947
NM_004004.6(GJB2):c.35G>T (p.Gly12Val) rs1801002
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004004.6(GJB2):c.35dup (p.Val13fs) rs80338939
NM_004004.6(GJB2):c.51_62delinsA (p.Thr18fs) rs886037624
NM_004004.6(GJB2):c.551G>A (p.Arg184Gln) rs80338950
NM_004004.6(GJB2):c.576del (p.Val193fs) rs747847191
NM_004004.6(GJB2):c.647_650del (p.Arg216fs) rs587783647
NM_004006.2(DMD):c.3606_3607del rs1569562951
NM_004006.3(DMD):c.10033C>T (p.Arg3345Ter) rs398123827
NM_004006.3(DMD):c.100A>T (p.Lys34Ter) rs1557084280
NM_004006.3(DMD):c.10108C>T (p.Arg3370Ter) rs104894787
NM_004006.3(DMD):c.10121del (p.Lys3374fs) rs1556037429
NM_004006.3(DMD):c.10133del (p.Asn3378fs) rs863224975
NM_004006.3(DMD):c.10141C>T (p.Arg3381Ter) rs104894790
NM_004006.3(DMD):c.10171C>T (p.Arg3391Ter) rs398123832
NM_004006.3(DMD):c.10223+1G>C rs398123834
NM_004006.3(DMD):c.10412T>G (p.Leu3471Ter) rs863224976
NM_004006.3(DMD):c.10454del (p.Leu3485fs) rs398123839
NM_004006.3(DMD):c.10477C>T (p.Gln3493Ter) rs886042495
NM_004006.3(DMD):c.10504G>T (p.Glu3502Ter) rs863224977
NM_004006.3(DMD):c.10546G>T (p.Glu3516Ter) rs1569401103
NM_004006.3(DMD):c.1150-2del rs863224978
NM_004006.3(DMD):c.1324C>T (p.Gln442Ter) rs863224979
NM_004006.3(DMD):c.1331+1G>A rs863224980
NM_004006.3(DMD):c.1388G>A (p.Trp463Ter) rs863224981
NM_004006.3(DMD):c.1483-1G>C rs863224982
NM_004006.3(DMD):c.1615C>T (p.Arg539Ter) rs398123865
NM_004006.3(DMD):c.1653G>A (p.Trp551Ter) rs1060502629
NM_004006.3(DMD):c.1663C>T (p.Gln555Ter) rs863224983
NM_004006.3(DMD):c.1683G>A (p.Trp561Ter) rs863224984
NM_004006.3(DMD):c.1713dup (p.Ser572Ter) rs1601808932
NM_004006.3(DMD):c.1734del (p.Glu579fs) rs398123866
NM_004006.3(DMD):c.178C>T (p.Gln60Ter) rs128626233
NM_004006.3(DMD):c.1973_1992+966del rs1603636515
NM_004006.3(DMD):c.2111del (p.Pro704fs) rs1569169736
NM_004006.3(DMD):c.2215G>T (p.Glu739Ter) rs863224985
NM_004006.3(DMD):c.2257G>T (p.Glu753Ter) rs1557396632
NM_004006.3(DMD):c.2368C>T (p.Gln790Ter) rs762860653
NM_004006.3(DMD):c.2407C>T (p.Gln803Ter) rs863224986
NM_004006.3(DMD):c.2423_2424insA (p.Asn809fs) rs1557383751
NM_004006.3(DMD):c.2611A>T (p.Lys871Ter) rs863224987
NM_004006.3(DMD):c.2623-3C>G rs863224988
NM_004006.3(DMD):c.2644del (p.Asp882fs) rs1557380670
NM_004006.3(DMD):c.265-2A>G rs863224989
NM_004006.3(DMD):c.2650C>T (p.Gln884Ter) rs398123903
NM_004006.3(DMD):c.2791G>T (p.Glu931Ter) rs128625227
NM_004006.3(DMD):c.2797C>T (p.Gln933Ter) rs756949497
NM_004006.3(DMD):c.2804-2A>C rs794727357
NM_004006.3(DMD):c.280del (p.Ile94fs) rs863224990
NM_004006.3(DMD):c.282dup (p.Gly95fs) rs863224991
NM_004006.3(DMD):c.2991C>G (p.Tyr997Ter) rs863224992
NM_004006.3(DMD):c.3151C>T (p.Arg1051Ter) rs398123929
NM_004006.3(DMD):c.3172C>T (p.Gln1058Ter) rs2148428322
NM_004006.3(DMD):c.3217G>T (p.Glu1073Ter) rs398123931
NM_004006.3(DMD):c.3427C>T (p.Gln1143Ter) rs863224993
NM_004006.3(DMD):c.3432+1G>A rs398123937
NM_004006.3(DMD):c.3433-5_3434del rs863224994
NM_004006.3(DMD):c.355C>T (p.Gln119Ter) rs863224995
NM_004006.3(DMD):c.358-2A>G rs863224996
NM_004006.3(DMD):c.3603+1G>T rs1209389771
NM_004006.3(DMD):c.3804G>A (p.Trp1268Ter) rs1569562573
NM_004006.3(DMD):c.3940C>T (p.Arg1314Ter) rs5030730
NM_004006.3(DMD):c.4240C>T (p.Gln1414Ter) rs863224997
NM_004006.3(DMD):c.433C>T (p.Arg145Ter) rs128626235
NM_004006.3(DMD):c.4375C>T (p.Arg1459Ter) rs398123953
NM_004006.3(DMD):c.4606G>T (p.Glu1536Ter) rs863224998
NM_004006.3(DMD):c.4693C>T (p.Gln1565Ter) rs1603632117
NM_004006.3(DMD):c.4729C>T (p.Arg1577Ter) rs863224999
NM_004006.3(DMD):c.4758G>A (p.Trp1586Ter) rs1569560477
NM_004006.3(DMD):c.4918del (p.Thr1640fs) rs863225000
NM_004006.3(DMD):c.4996C>T (p.Arg1666Ter) rs398123973
NM_004006.3(DMD):c.5131C>T (p.Gln1711Ter) rs863225001
NM_004006.3(DMD):c.5287C>T (p.Arg1763Ter) rs398123981
NM_004006.3(DMD):c.5350G>T (p.Glu1784Ter) rs777864641
NM_004006.3(DMD):c.5353C>T (p.Gln1785Ter) rs398123990
NM_004006.3(DMD):c.5371C>T (p.Gln1791Ter) rs1569559204
NM_004006.3(DMD):c.5387dup (p.Leu1797fs) rs1603631365
NM_004006.3(DMD):c.5461G>T (p.Glu1821Ter) rs863225002
NM_004006.3(DMD):c.5530C>T (p.Arg1844Ter) rs1064325
NM_004006.3(DMD):c.5551C>T (p.Gln1851Ter) rs128625228
NM_004006.3(DMD):c.5602_5605del (p.Arg1868fs) rs863225003
NM_004006.3(DMD):c.5641C>T (p.Gln1881Ter) rs863225004
NM_004006.3(DMD):c.5773G>T (p.Glu1925Ter) rs398123997
NM_004006.3(DMD):c.583C>T (p.Arg195Ter) rs398123999
NM_004006.3(DMD):c.5851C>T (p.Gln1951Ter) rs773643220
NM_004006.3(DMD):c.589G>T (p.Glu197Ter) rs1340365803
NM_004006.3(DMD):c.5917C>T (p.Gln1973Ter) rs863225005
NM_004006.3(DMD):c.6128_6131del (p.Asp2043fs) rs863225006
NM_004006.3(DMD):c.627del (p.Ile209fs) rs794727862
NM_004006.3(DMD):c.6292C>T (p.Arg2098Ter) rs128626250
NM_004006.3(DMD):c.6423C>A (p.Tyr2141Ter) rs1425702864
NM_004006.3(DMD):c.6611dup (p.Arg2205fs) rs863225007
NM_004006.3(DMD):c.6986dup (p.Leu2330fs) rs398124040
NM_004006.3(DMD):c.7105G>T (p.Glu2369Ter) rs863225008
NM_004006.3(DMD):c.7657C>T (p.Arg2553Ter) rs398124050
NM_004006.3(DMD):c.7661-2A>G rs1556806356
NM_004006.3(DMD):c.7755G>A (p.Trp2585Ter) rs762394978
NM_004006.3(DMD):c.7817G>A (p.Trp2606Ter) rs863225009
NM_004006.3(DMD):c.8027+2T>A rs863225010
NM_004006.3(DMD):c.8038C>T (p.Arg2680Ter) rs863225011
NM_004006.3(DMD):c.8196del (p.Glu2733fs) rs1556764753
NM_004006.3(DMD):c.8357G>A (p.Trp2786Ter) rs863225012
NM_004006.3(DMD):c.8390+2T>C rs863225013
NM_004006.3(DMD):c.8443C>T (p.Gln2815Ter) rs398124072
NM_004006.3(DMD):c.8608C>T (p.Arg2870Ter) rs398124074
NM_004006.3(DMD):c.8713C>T (p.Arg2905Ter) rs128627256
NM_004006.3(DMD):c.8944C>T (p.Arg2982Ter) rs128625229
NM_004006.3(DMD):c.8970_8971del (p.Asn2991fs) rs863225014
NM_004006.3(DMD):c.9100C>T (p.Arg3034Ter) rs1569530432
NM_004006.3(DMD):c.9163+2T>G rs1556539065
NM_004006.3(DMD):c.9204_9207del (p.Asn3068fs) rs863225015
NM_004006.3(DMD):c.9337C>T (p.Arg3113Ter) rs398124092
NM_004006.3(DMD):c.94-1G>A rs863225016
NM_004006.3(DMD):c.9551dup (p.Asn3184fs) rs863225017
NM_004006.3(DMD):c.9563+1G>A rs886043989
NM_004006.3(DMD):c.9568C>T (p.Arg3190Ter) rs104894797
NM_004006.3(DMD):c.9880_9881dup (p.Trp3294fs) rs1569427535
NM_004006.3(DMD):c.9938_9941dup (p.Asn3314delinsLysTer) rs863225018
NM_004006.3(DMD):c.9G>A (p.Trp3Ter) rs398122853
NM_004092.4(ECHS1):c.410_411del (p.Tyr137fs) rs777218310
NM_004115.4(FGF14):c.564del (p.Thr190fs) rs2035456443
NM_004320.6(ATP2A1):c.1742_1743del (p.Ser581fs) rs1421005631
NM_004562.3(PRKN):c.155del (p.Asn52fs) rs754809877
NM_004562.3(PRKN):c.743del (p.Val248fs) rs1790398941
NM_004562.3(PRKN):c.804T>A (p.Cys268Ter) rs377554392
NM_004621.6(TRPC6):c.2605C>T (p.Gln869Ter) rs1858817266
NM_004621.6(TRPC6):c.523C>T (p.Arg175Trp) rs869025541
NM_004646.4(NPHS1):c.1745_1749del (p.Lys582fs)
NM_004646.4(NPHS1):c.2606_2607dup (p.Asn870fs) rs386833921
NM_004646.4(NPHS1):c.2931T>G (p.Tyr977Ter)
NM_004646.4(NPHS1):c.565G>T (p.Glu189Ter) rs139598219
NM_004646.4(NPHS1):c.614_621delinsTT (p.Thr205_Arg207delinsIle) rs1555763603
NM_004738.5(VAPB):c.166C>T (p.Pro56Ser) rs74315431
NM_004820.5(CYP7B1):c.1249C>T (p.Arg417Cys) rs367916692
NM_004820.5(CYP7B1):c.650dup (p.Leu217fs) rs1298132281
NM_004924.6(ACTN4):c.776C>T (p.Thr259Ile) rs121908416
NM_004960.4(FUS):c.1394-2del rs1555509569
NM_004960.4(FUS):c.1561C>G (p.Arg521Gly) rs121909668
NM_004960.4(FUS):c.1574C>T (p.Pro525Leu) rs886041390
NM_004977.3(KCNC3):c.1259G>A (p.Arg420His) rs104894699
NM_004977.3(KCNC3):c.1268G>A (p.Arg423His) rs797044872
NM_004984.4(KIF5A):c.610C>T (p.Arg204Trp) rs1555177629
NM_005249.5(FOXG1):c.506del (p.Gly169fs) rs1452295073
NM_005271.5(GLUD1):c.956A>G (p.Tyr319Cys) rs1554906133
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) rs104894229
NM_005413.4(SIX3):c.794_806+27delinsAGGCCA
NM_005529.7(HSPG2):c.7874-2A>G
NM_005591.4(MRE11):c.630G>C (p.Trp210Cys) rs137852763
NM_005629.4(SLC6A8):c.1540C>T (p.Arg514Ter) rs122453113
NM_005633.4(SOS1):c.806T>G (p.Met269Arg) rs137852813
NM_006005.3(WFS1):c.2051C>T (p.Ala684Val) rs387906930
NM_006121.4(KRT1):c.559C>T (p.Leu187Phe) rs59151464
NM_006158.5(NEFL):c.64C>T (p.Pro22Ser) rs28928910
NM_006261.5(PROP1):c.301_302del (p.Leu102fs) rs193922688
NM_006516.4(SLC2A1):c.315del (p.Ser106fs) rs1570593595
NM_006516.4(SLC2A1):c.634del (p.Arg212fs) rs2124449299
NM_006790.3(MYOT):c.170C>T (p.Thr57Ile) rs28937597
NM_006790.3(MYOT):c.179C>G (p.Ser60Cys) rs121908458
NM_006796.3(AFG3L2):c.1712_1713del (p.Val571fs) rs1598825313
NM_006946.4(SPTBN2):c.1596_1634del (p.Glu532_Met544del) rs1554985851
NM_007126.5(VCP):c.464G>A (p.Arg155His) rs121909329
NM_007262.5(PARK7):c.191_192del (p.Glu64fs) rs1553122929
NM_007375.4(TARDBP):c.1042G>T (p.Gly348Cys) rs80356733
NM_007375.4(TARDBP):c.1055A>G (p.Asn352Ser) rs80356734
NM_007375.4(TARDBP):c.892G>A (p.Gly298Ser) rs4884357
NM_014009.4(FOXP3):c.1010G>A (p.Arg337Gln) rs2066044949
NM_014231.5(VAMP1):c.340+2T>A
NM_014231.5(VAMP1):c.340+2T>G rs878854975
NM_014231.5(VAMP1):c.66del (p.Gly23fs)
NM_014297.5(ETHE1):c.576C>A (p.Tyr192Ter)
NM_014363.6(SACS):c.2593A>T (p.Lys865Ter) rs1566072001
NM_014363.6(SACS):c.3168del (p.Asp1057fs) rs2137637783
NM_014363.6(SACS):c.382_383del (p.Glu128fs) rs757179309
NM_014363.6(SACS):c.5008_5011del (p.Tyr1670fs) rs2137622518
NM_014363.6(SACS):c.5151dup (p.Ser1718fs) rs754439135
NM_014363.6(SACS):c.699del (p.Asp235fs) rs1415870785
NM_014363.6(SACS):c.7374del (p.Met2459fs) rs1868615639
NM_014363.6(SACS):c.8793del (p.Lys2931fs) rs767871841
NM_014363.6(SACS):c.8793dup (p.Arg2932fs) rs767871841
NM_014363.6(SACS):c.9332del (p.Asn3111fs) rs1883705830
NM_014363.6(SACS):c.961C>T (p.Arg321Ter) rs1175545518
NM_014365.3(HSPB8):c.423G>T (p.Lys141Asn) rs104894345
NM_014625.4(NPHS2):c.104dup (p.Arg36fs) rs1320543506
NM_014845.6(FIG4):c.1666dup (p.Thr556fs) rs772320287
NM_014845.6(FIG4):c.759del (p.Phe254fs) rs764717219
NM_014846.4(WASHC5):c.1876G>T (p.Val626Phe) rs80338867
NM_014874.4(MFN2):c.1090C>T (p.Arg364Trp) rs119103265
NM_014874.4(MFN2):c.1126A>G (p.Met376Val) rs863224967
NM_014874.4(MFN2):c.1252C>T (p.Arg418Ter) rs1057517987
NM_014874.4(MFN2):c.2219G>C (p.Trp740Ser) rs28940292
NM_014874.4(MFN2):c.2256C>A (p.Tyr752Ter) rs863224968
NM_014874.4(MFN2):c.227T>C (p.Leu76Pro) rs28940293
NM_014874.4(MFN2):c.280C>T (p.Arg94Trp) rs119103263
NM_014874.4(MFN2):c.281G>A (p.Arg94Gln) rs28940291
NM_014874.4(MFN2):c.314C>T (p.Thr105Met) rs863224069
NM_014874.4(MFN2):c.494A>G (p.His165Arg) rs863224970
NM_014874.4(MFN2):c.839G>A (p.Arg280His) rs28940294
NM_014946.3(SPAST):c.1174-1del rs1573142475
NM_014946.4(SPAST):c.1027_1031dup (p.Ile344fs) rs1553315323
NM_014946.4(SPAST):c.1039C>T (p.Gln347Ter) rs1553315329
NM_014946.4(SPAST):c.1053del (p.Lys351fs) rs2148734539
NM_014946.4(SPAST):c.1054C>T (p.Gln352Ter) rs1678826101
NM_014946.4(SPAST):c.1140_1141dup (p.Phe381fs)
NM_014946.4(SPAST):c.1167_1168del (p.Met390fs) rs1553316843
NM_014946.4(SPAST):c.1168A>G (p.Met390Val) rs797044850
NM_014946.4(SPAST):c.1173+1G>A rs1060502226
NM_014946.4(SPAST):c.1174-1G>C rs1553317024
NM_014946.4(SPAST):c.1196C>T (p.Ser399Leu) rs1553317025
NM_014946.4(SPAST):c.1209_1212del (p.Phe403fs) rs1553317029
NM_014946.4(SPAST):c.1216A>G (p.Ile406Val) rs587777757
NM_014946.4(SPAST):c.1224dup (p.Ala409fs) rs1558331940
NM_014946.4(SPAST):c.1238C>A (p.Ser413Ter) rs1553317045
NM_014946.4(SPAST):c.1245del (p.Lys414_Tyr415insTer) rs863224513
NM_014946.4(SPAST):c.1276C>T (p.Leu426Phe) rs1060502227
NM_014946.4(SPAST):c.1286_1287dup (p.Ala430fs) rs1553318177
NM_014946.4(SPAST):c.1291C>T (p.Arg431Ter) rs786204126
NM_014946.4(SPAST):c.1304_1310dup (p.Ile438fs)
NM_014946.4(SPAST):c.1322-1G>T rs1365753930
NM_014946.4(SPAST):c.1322-30_1322-2del rs1553318205
NM_014946.4(SPAST):c.1344T>A (p.Cys448Ter) rs2148753955
NM_014946.4(SPAST):c.1359_1360dup (p.Glu454fs) rs1384312757
NM_014946.4(SPAST):c.1378C>T (p.Arg460Cys) rs878854990
NM_014946.4(SPAST):c.139A>T (p.Lys47Ter) rs1553394475
NM_014946.4(SPAST):c.1413+1G>A rs1553318276
NM_014946.4(SPAST):c.1413+1G>T rs1553318276
NM_014946.4(SPAST):c.1413+5G>A rs1553318282
NM_014946.4(SPAST):c.1413+6T>C rs1553318284
NM_014946.4(SPAST):c.1414-2A>G
NM_014946.4(SPAST):c.1468C>T (p.Gln490Ter) rs1553318336
NM_014946.4(SPAST):c.1468del (p.Gln490fs)
NM_014946.4(SPAST):c.1493+1G>A rs1553318351
NM_014946.4(SPAST):c.1494-2A>C rs1218081251
NM_014946.4(SPAST):c.1496G>A (p.Arg499His) rs878854991
NM_014946.4(SPAST):c.1536+1G>T rs1553319095
NM_014946.4(SPAST):c.1536+2T>C
NM_014946.4(SPAST):c.156T>A (p.Tyr52Ter) rs1553394497
NM_014946.4(SPAST):c.1579del (p.Ser527fs)
NM_014946.4(SPAST):c.1586T>A (p.Leu529Ter) rs1558340832
NM_014946.4(SPAST):c.1601del (p.Leu534fs) rs1553319318
NM_014946.4(SPAST):c.1617-2A>G rs1553319524
NM_014946.4(SPAST):c.165C>G (p.Tyr55Ter)
NM_014946.4(SPAST):c.1676G>A (p.Gly559Asp) rs864622179
NM_014946.4(SPAST):c.167dup (p.Leu57fs)
NM_014946.4(SPAST):c.1684C>T (p.Arg562Ter) rs121908518
NM_014946.4(SPAST):c.1688-1G>A rs1573174147
NM_014946.4(SPAST):c.1688-2A>G rs587777752
NM_014946.4(SPAST):c.1701del (p.Glu567fs)
NM_014946.4(SPAST):c.1741C>T (p.Arg581Ter) rs778023258
NM_014946.4(SPAST):c.1774del (p.Lys591_Ile592insTer) rs1680185365
NM_014946.4(SPAST):c.238C>T (p.Gln80Ter) rs1676403099
NM_014946.4(SPAST):c.334G>T (p.Glu112Ter) rs1553394603
NM_014946.4(SPAST):c.340G>T (p.Glu114Ter) rs1553394608
NM_014946.4(SPAST):c.364C>T (p.Gln122Ter) rs1233469782
NM_014946.4(SPAST):c.447_451del (p.Tyr149_Lys151delinsTer) rs1677532605
NM_014946.4(SPAST):c.451_454del (p.Lys151fs) rs1677532829
NM_014946.4(SPAST):c.465del (p.Glu155fs) rs863224514
NM_014946.4(SPAST):c.517del (p.Arg173fs)
NM_014946.4(SPAST):c.695_717dup (p.Thr240delinsPheGlnLysGluLysThrProTer) rs1678753568
NM_014946.4(SPAST):c.734C>G (p.Ser245Ter) rs1553314896
NM_014946.4(SPAST):c.746C>G (p.Ser249Ter) rs1553314902
NM_014946.4(SPAST):c.782C>A (p.Ser261Ter) rs768241184
NM_014946.4(SPAST):c.807del (p.Ser268_Tyr269insTer)
NM_014946.4(SPAST):c.838C>T (p.Gln280Ter) rs1553314948
NM_014946.4(SPAST):c.839dup (p.Ser282fs) rs1558323598
NM_014946.4(SPAST):c.867_868del (p.His289fs) rs1558323659
NM_014946.4(SPAST):c.870G>C (p.Lys290Asn)
NM_014946.4(SPAST):c.871-2A>T rs1553315169
NM_014946.4(SPAST):c.911del (p.Pro304fs)
NM_014946.4(SPAST):c.911dup (p.Thr305fs) rs1553315188
NM_014946.4(SPAST):c.928A>T (p.Lys310Ter) rs1678806430
NM_015046.7(SETX):c.5222dup (p.Asp1742fs) rs730882209
NM_015046.7(SETX):c.5308_5311del (p.Glu1770fs) rs750959420
NM_015046.7(SETX):c.5547_5548+2del rs1554813128
NM_015046.7(SETX):c.6292C>T (p.Arg2098Ter) rs770684782
NM_015338.6(ASXL1):c.1934dup (p.Gly646fs) rs750318549
NM_015346.4(ZFYVE26):c.1933dup (p.Met645fs) rs1566893090
NM_015346.4(ZFYVE26):c.960G>A (p.Trp320Ter) rs1177577061
NM_015386.3(COG4):c.1546G>A (p.Gly516Arg) rs1555575860
NM_015506.3(MMACHC):c.615C>G (p.Tyr205Ter) rs747527726
NM_015560.2(OPA1):c.985del rs2109039412
NM_015915.5(ATL1):c.467C>T (p.Thr156Ile) rs137852657
NM_015915.5(ATL1):c.715C>T (p.Arg239Cys) rs119476046
NM_016239.4(MYO15A):c.3311dup (p.Gly1104_Glu1105insTer) rs794729637
NM_017668.3(NDE1):c.684_685del (p.Pro229fs) rs756206942
NM_017780.4(CHD7):c.2740G>T (p.Glu914Ter) rs1586389368
NM_017780.4(CHD7):c.4393C>T (p.Arg1465Ter) rs886040991
NM_017780.4(CHD7):c.5405-17G>A rs794727423
NM_017780.4(CHD7):c.5693T>G (p.Leu1898Ter)
NM_017946.4(FKBP14):c.362dup (p.Glu122fs) rs542489955
NM_018075.5(ANO10):c.1056dup (p.Glu353Ter)
NM_018075.5(ANO10):c.132dup (p.Asp45fs) rs540331226
NM_018075.5(ANO10):c.1585G>T (p.Glu529Ter)
NM_018075.5(ANO10):c.473-2A>G rs1553724533
NM_018075.5(ANO10):c.96del (p.Glu33fs) rs758937084
NM_018834.6(MATR3):c.254C>G (p.Ser85Cys) rs121434591
NM_020247.5(COQ8A):c.1660-1G>A rs1395498196
NM_020247.5(COQ8A):c.1844dup (p.Ser616fs) rs764847439
NM_020247.5(COQ8A):c.638_645del (p.Arg213fs) rs886042265
NM_020451.3(SELENON):c.713dup (p.Asn238fs) rs368104077
NM_020975.6(RET):c.1852T>C (p.Cys618Arg) rs76262710
NM_020975.6(RET):c.1859G>A (p.Cys620Tyr) rs77503355
NM_020975.6(RET):c.1900T>G (p.Cys634Gly) rs75076352
NM_020975.6(RET):c.1901G>A (p.Cys634Tyr) rs75996173
NM_020975.6(RET):c.2410G>T (p.Val804Leu) rs79658334
NM_020975.6(RET):c.2753T>C (p.Met918Thr) rs74799832
NM_021625.5(TRPV4):c.557G>A (p.Arg186Gln) rs397514494
NM_021625.5(TRPV4):c.694C>T (p.Arg232Cys) rs387906904
NM_021625.5(TRPV4):c.806G>A (p.Arg269His) rs267607144
NM_021830.5(TWNK):c.1070G>C (p.Arg357Pro) rs758026634
NM_021830.5(TWNK):c.1121G>A (p.Arg374Gln) rs1554887097
NM_022455.5(NSD1):c.3541_3544del (p.Glu1181fs)
NM_022464.5(SIL1):c.212dup (p.His71fs)
NM_022489.4(INF2):c.658G>A (p.Glu220Lys) rs530391015
NM_023110.3(FGFR1):c.36_42dup (p.Thr15fs) rs1563627742
NM_023110.3(FGFR1):c.821del (p.Glu274fs) rs1554562081
NM_024301.5(FKRP):c.1364C>A (p.Ala455Asp) rs28937903
NM_024301.5(FKRP):c.941C>T (p.Thr314Met) rs398124395
NM_024426.6(WT1):c.1315C>T (p.Arg439Cys) rs121907910
NM_024426.6(WT1):c.1316G>A (p.Arg439His) rs121907901
NM_024426.6(WT1):c.1349A>G (p.His450Arg) rs1851851609
NM_024426.6(WT1):c.1399C>T (p.Arg467Trp) rs121907900
NM_024426.6(WT1):c.1400G>A (p.Arg467Gln) rs121907903
NM_024426.6(WT1):c.1447+5G>A rs587776576
NM_024577.4(SH3TC2):c.957del (p.Phe320fs) rs1554122541
NM_024685.4(BBS10):c.271dup (p.Cys91fs) rs549625604
NM_025137.4(SPG11):c.1590del (p.His531fs)
NM_025137.4(SPG11):c.202_203dup (p.Leu68fs) rs773773579
NM_025137.4(SPG11):c.2163dup (p.Ile722fs) rs312262738
NM_025137.4(SPG11):c.2471del (p.Phe824fs) rs764805516
NM_025137.4(SPG11):c.2716del (p.Gln906fs) rs312262747
NM_025137.4(SPG11):c.276_285del (p.Arg93fs) rs747220413
NM_025137.4(SPG11):c.3320_3321del (p.Cys1107fs) rs1366914385
NM_025137.4(SPG11):c.3868dup (p.Tyr1290fs) rs1555451491
NM_025137.4(SPG11):c.4830dup (p.Gln1611fs)
NM_025137.4(SPG11):c.5093T>A (p.Leu1698Ter) rs1462607878
NM_025137.4(SPG11):c.6091C>T (p.Arg2031Ter) rs147713329
NM_025137.4(SPG11):c.6832_6833del (p.Ser2278fs) rs312262784
NM_030962.4(SBF2):c.1053+2T>C rs1554977189
NM_030962.4(SBF2):c.1459C>T (p.Arg487Ter) rs120074139
NM_030962.4(SBF2):c.548T>A (p.Leu183Ter) rs1554990103
NM_030962.4(SBF2):c.619+1G>A rs1565150234
NM_031443.4(CCM2):c.1250_1251del (p.Glu417fs) rs1562921605
NM_031443.4(CCM2):c.1A>G (p.Met1Val) rs137852842
NM_031443.4(CCM2):c.295del (p.His99fs) rs1554375233
NM_031443.4(CCM2):c.30+1G>A rs1562848479
NM_031443.4(CCM2):c.98_123del (p.His33fs) rs1583901813
NM_033305.3(VPS13A):c.261_264del (p.Leu88_Leu89insTer) rs1589994032
NM_033305.3(VPS13A):c.4411C>T (p.Arg1471Ter) rs1193250444
NM_033337.3(CAV3):c.136G>A (p.Ala46Thr) rs116840789
NM_033380.3(COL4A5):c.1032+1G>C rs1569491753
NM_033380.3(COL4A5):c.1084G>A (p.Gly362Arg) rs281874656
NM_033380.3(COL4A5):c.1093G>A (p.Gly365Arg) rs2147788229
NM_033380.3(COL4A5):c.1258G>A (p.Gly420Arg) rs1556410266
NM_033380.3(COL4A5):c.1259G>T (p.Gly420Val) rs281874663
NM_033380.3(COL4A5):c.1738C>T (p.Gln580Ter) rs281874676
NM_033380.3(COL4A5):c.2095G>T (p.Gly699Ter) rs1569495049
NM_033380.3(COL4A5):c.2142dup (p.Lys715fs) rs1603292081
NM_033380.3(COL4A5):c.2396-1G>C rs886041509
NM_033380.3(COL4A5):c.2414G>A (p.Gly805Glu) rs1556418210
NM_033380.3(COL4A5):c.2431G>A (p.Gly811Arg) rs104886182
NM_033380.3(COL4A5):c.2466ACCACCAGG[1] (p.823PPG[1]) rs104886356
NM_033380.3(COL4A5):c.2500G>C (p.Gly834Arg) rs281874696
NM_033380.3(COL4A5):c.2509+1G>A rs1556418287
NM_033380.3(COL4A5):c.2513T>G (p.Leu838Ter) rs1603297223
NM_033380.3(COL4A5):c.2538_2539dup (p.Asp847fs) rs1556419800
NM_033380.3(COL4A5):c.2696G>A (p.Gly899Asp) rs281874702
NM_033380.3(COL4A5):c.2767+1G>C rs1603297903
NM_033380.3(COL4A5):c.3196G>A (p.Gly1066Ser) rs104886219
NM_033380.3(COL4A5):c.3197G>A (p.Gly1066Asp) rs104886221
NM_033380.3(COL4A5):c.3197G>T (p.Gly1066Val) rs104886221
NM_033380.3(COL4A5):c.3368del (p.Phe1123fs) rs1569504092
NM_033380.3(COL4A5):c.3410G>A (p.Gly1137Asp) rs1131691795
NM_033380.3(COL4A5):c.3585del (p.Gly1196fs) rs1569505604
NM_033380.3(COL4A5):c.3586G>A (p.Gly1196Arg) rs104886244
NM_033380.3(COL4A5):c.3614G>A (p.Gly1205Asp) rs1556446493
NM_033380.3(COL4A5):c.3695del (p.Gly1232fs) rs1556446657
NM_033380.3(COL4A5):c.3731G>A (p.Gly1244Asp) rs104886261
NM_033380.3(COL4A5):c.3940C>T (p.Gln1314Ter) rs2147975189
NM_033380.3(COL4A5):c.404G>A (p.Gly135Asp) rs1556403086
NM_033380.3(COL4A5):c.4063del (p.Glu1355fs) rs1556453276
NM_033380.3(COL4A5):c.4087+1G>A rs587776401
NM_033380.3(COL4A5):c.4106del (p.Gly1369fs) rs1569507535
NM_033380.3(COL4A5):c.465+1_465+5del rs1556403276
NM_033380.3(COL4A5):c.4706G>A (p.Arg1569Gln) rs281874743
NM_033380.3(COL4A5):c.4707-1G>C rs1556462917
NM_033380.3(COL4A5):c.4964T>G (p.Leu1655Arg) rs104886303
NM_033380.3(COL4A5):c.511G>C (p.Gly171Arg) rs1556404027
NM_033380.3(COL4A5):c.611_612del (p.Gly204fs) rs281874759
NM_033380.3(COL4A5):c.781-1G>A rs1603283547
NM_033380.3(COL4A5):c.796C>T (p.Arg266Ter) rs104886071
NM_033380.3(COL4A5):c.874G>A (p.Gly292Arg) rs104886073
NM_033380.3(COL4A5):c.884G>A (p.Gly295Asp) rs104886079
NM_033380.3(COL4A5):c.935del (p.Pro312fs) rs1556407078
NM_033507.2(GCK):c.488del rs1246464603
NM_058246.4(DNAJB6):c.279C>G (p.Phe93Leu) rs149278319
NM_130837.3(OPA1):c.1034G>A (p.Arg345Gln) rs121908375
NM_130837.3(OPA1):c.1035+2del rs1577226484
NM_130837.3(OPA1):c.112C>T (p.Arg38Ter) rs761460379
NM_130837.3(OPA1):c.1148A>G (p.Lys383Arg) rs398124303
NM_130837.3(OPA1):c.1150-1G>A rs879255510
NM_130837.3(OPA1):c.1377_1377+4del rs1577242473
NM_130837.3(OPA1):c.1389dup (p.Gly464fs) rs1553877912
NM_130837.3(OPA1):c.1714G>T (p.Glu572Ter) rs748215343
NM_130837.3(OPA1):c.1734del (p.Gln579fs) rs1560377736
NM_130837.3(OPA1):c.1800C>G (p.Ser600Arg) rs398124298
NM_130837.3(OPA1):c.1834C>T (p.Arg612Ter) rs398124299
NM_130837.3(OPA1):c.1849C>T (p.Gln617Ter)
NM_130837.3(OPA1):c.2140C>T (p.Gln714Ter)
NM_130837.3(OPA1):c.2287del (p.Ser763fs) rs1219753329
NM_130837.3(OPA1):c.2296C>T (p.Arg766Ter) rs863224906
NM_130837.3(OPA1):c.2406del (p.Phe802fs) rs1553785025
NM_130837.3(OPA1):c.2499G>A (p.Trp833Ter) rs1553785338
NM_130837.3(OPA1):c.2520+1G>A rs1553785362
NM_130837.3(OPA1):c.256del (p.Arg86fs) rs1553871618
NM_130837.3(OPA1):c.2631del (p.Glu877fs)
NM_130837.3(OPA1):c.2661+1G>T rs794727392
NM_130837.3(OPA1):c.2734C>T (p.Arg912Ter) rs794727405
NM_130837.3(OPA1):c.2751C>G (p.Tyr917Ter) rs1577327315
NM_130837.3(OPA1):c.2779-2A>G
NM_130837.3(OPA1):c.2787C>A (p.Cys929Ter)
NM_130837.3(OPA1):c.2873_2876del rs80356530
NM_130837.3(OPA1):c.2987_2988del (p.Lys996fs) rs886043136
NM_130837.3(OPA1):c.2990_2993del (p.Val997fs) rs879255560
NM_130837.3(OPA1):c.3013_3019dup (p.Phe1007Ter) rs1553797598
NM_130837.3(OPA1):c.448+1G>A
NM_130837.3(OPA1):c.800_801del (p.Lys267fs) rs794727804
NM_130837.3(OPA1):c.804_805del (p.Lys269fs) rs863224142
NM_130837.3(OPA1):c.868C>T (p.Arg290Ter) rs761743852
NM_130837.3(OPA1):c.93_96dup (p.Leu33fs) rs1728761079
NM_130837.3(OPA1):c.959_962del (p.Ile320fs) rs1064794208
NM_139058.3(ARX):c.306GGC[17] (p.Ala109_Ala115dup) rs387906492
NM_144599.5(NIPA1):c.316G>A (p.Gly106Arg) rs104894490
NM_145239.3(PRRT2):c.323_324del (p.Thr108fs) rs886041327
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
NM_145239.3(PRRT2):c.916_934del (p.Gly305_Ala306insTer) rs2142428932
NM_152263.4(TPM3):c.503G>A (p.Arg168His) rs121964852
NM_153766.3(KCNJ1):c.1001dup (p.His335fs) rs768286324
NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp) rs58932704
NM_170707.4(LMNA):c.1621C>T (p.Arg541Cys) rs56984562
NM_170707.4(LMNA):c.184C>G (p.Arg62Gly) rs56793579
NM_170707.4(LMNA):c.1961dup (p.Thr655fs) rs863225024
NM_170707.4(LMNA):c.745C>T (p.Arg249Trp) rs121912496
NM_170707.4(LMNA):c.746G>A (p.Arg249Gln) rs59332535
NM_172107.4(KCNQ2):c.620G>A (p.Arg207Gln) rs118192200
NM_172107.4(KCNQ2):c.821C>T (p.Thr274Met) rs727503974
NM_173500.4(TTBK2):c.1232dup (p.Asn412fs) rs2140770415
NM_173500.4(TTBK2):c.2983del (p.Leu995fs) rs2140591830
NM_173660.5(DOK7):c.1124_1127dup (p.Ala378fs) rs606231128
NM_173660.5(DOK7):c.1339_1342dup (p.Gly448fs) rs606231131
NM_173660.5(DOK7):c.1358dup (p.Leu454fs) rs775544277
NM_175914.5(HNF4A):c.1052_1053dup (p.Leu352fs) rs2063787705
NM_175914.5(HNF4A):c.187C>T (p.Arg63Trp) rs587777732
NM_175914.5(HNF4A):c.200G>A (p.Arg67Gln) rs1555813319
NM_175914.5(HNF4A):c.224+1G>A rs1600707958
NM_175914.5(HNF4A):c.281_282delinsC (p.Arg94fs) rs193922471
NM_175914.5(HNF4A):c.319+2T>C rs1600710669
NM_175914.5(HNF4A):c.421C>T (p.Arg141Ter) rs137853335
NM_175914.5(HNF4A):c.50-1G>A
NM_175914.5(HNF4A):c.724del (p.Val242fs) rs1555816642
NM_175914.5(HNF4A):c.745G>T (p.Glu249Ter) rs781364316
NM_175914.5(HNF4A):c.763C>T (p.Gln255Ter) rs137853334
NM_175914.5(HNF4A):c.968del (p.Gln323fs) rs1555817851
NM_181882.3(PRX):c.2787del (p.Lys930fs) rs754521978
NM_181882.3(PRX):c.3286_3356del (p.Ile1096fs) rs1555800610
NM_182961.2(SYNE1):c.24979del rs1562984446
NM_182961.4(SYNE1):c.12361_12362delinsG (p.Lys4121fs)
NM_182961.4(SYNE1):c.13861dup (p.Thr4621fs) rs1563123183
NM_182961.4(SYNE1):c.14204del (p.Gln4735fs) rs1764145184
NM_182961.4(SYNE1):c.14212G>T (p.Glu4738Ter) rs1563118316
NM_182961.4(SYNE1):c.1562C>G (p.Ser521Ter) rs1593379577
NM_182961.4(SYNE1):c.16085_16092del (p.Ile5362fs) rs1554440887
NM_182961.4(SYNE1):c.16390-2A>G rs759460806
NM_182961.4(SYNE1):c.19046_19048delinsGA (p.Ser6349_Ala6350delinsTer) rs2153628887
NM_182961.4(SYNE1):c.1941dup (p.Arg648fs) rs775516009
NM_182961.4(SYNE1):c.21531del (p.Asp7178fs) rs2153465555
NM_182961.4(SYNE1):c.21975_21976delinsAT (p.Asp7325_Gln7326delinsGluTer)
NM_182961.4(SYNE1):c.23492del (p.Glu7831fs) rs1554491478
NM_182961.4(SYNE1):c.23869del (p.Cys7957fs)
NM_182961.4(SYNE1):c.25119+1G>A rs1164612098
NM_182961.4(SYNE1):c.3842del (p.Lys1281fs) rs1554709875
NM_182961.4(SYNE1):c.4939C>T (p.Gln1647Ter) rs1554681651
NM_182961.4(SYNE1):c.560G>A (p.Trp187Ter)
NM_182961.4(SYNE1):c.8885del (p.Val2962fs) rs750544827
NM_182961.4(SYNE1):c.9082C>T (p.Arg3028Ter) rs369163343
NM_194454.3(KRIT1):c.1084del (p.Ala362fs) rs1554518541
NM_194454.3(KRIT1):c.1255-2A>G rs1795437460
NM_194454.3(KRIT1):c.1267C>T (p.Arg423Ter) rs886039402
NM_194454.3(KRIT1):c.1363C>T (p.Gln455Ter) rs267607203
NM_194454.3(KRIT1):c.1849G>T (p.Glu617Ter) rs1554503116
NM_194454.3(KRIT1):c.1967del (p.Ile656fs)
NM_194454.3(KRIT1):c.418C>T (p.Arg140Ter) rs866982998
NM_194454.3(KRIT1):c.486-1G>A rs1554529341
NM_198578.4(LRRK2):c.4321C>G (p.Arg1441Gly) rs33939927
NM_198904.4(GABRG2):c.1228G>T (p.Glu410Ter) rs1561662283
NM_206933.4(USH2A):c.5788C>T (p.Arg1930Ter) rs397518021
NM_213599.3(ANO5):c.191dup (p.Asn64fs) rs137854521
NM_213599.3(ANO5):c.989dup (p.Leu330fs) rs398124626
Single allele

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