ClinVar Miner

List of variants reported as pathogenic by Genome-Nilou Lab

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2559
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HGVS dbSNP gnomAD frequency
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881 0.03225
NM_000492.4(CFTR):c.1210-11T>G rs73715573 0.00886
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313 0.00375
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224 0.00354
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile) rs121918166 0.00350
NM_000303.3(PMM2):c.422G>A (p.Arg141His) rs28936415 0.00338
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro) rs1800546 0.00319
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu) rs1800553 0.00269
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala) rs28940579 0.00147
NM_003060.4(SLC22A5):c.-149G>A rs57262206 0.00144
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902 0.00137
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu) rs74315294 0.00134
NM_000018.4(ACADVL):c.848T>C (p.Val283Ala) rs113994167 0.00116
NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg) rs191312027 0.00101
NM_000053.4(ATP7B):c.3207C>A (p.His1069Gln) rs76151636 0.00100
NM_015506.3(MMACHC):c.271dup (p.Arg91fs) rs398124292 0.00093
NM_022356.4(P3H1):c.1080+1G>T rs72659351 0.00068
NM_183050.4(BCKDHB):c.832G>A (p.Gly278Ser) rs386834233 0.00061
NM_000277.3(PAH):c.1208C>T (p.Ala403Val) rs5030857 0.00057
NM_022132.5(MCCC2):c.1015G>A (p.Val339Met) rs150591260 0.00057
NM_000017.4(ACADS):c.319C>T (p.Arg107Cys) rs61732144 0.00055
NM_206933.4(USH2A):c.2299del (p.Glu767fs) rs80338903 0.00055
NM_002016.2(FLG):c.6109C>T (p.Arg2037Ter) rs200002200 0.00054
NM_000372.5(TYR):c.1037-7T>A rs61754381 0.00051
NM_000372.5(TYR):c.1118C>A (p.Thr373Lys) rs61754388 0.00051
NM_012434.5(SLC17A5):c.115C>T (p.Arg39Cys) rs80338794 0.00049
NM_000023.4(SGCA):c.229C>T (p.Arg77Cys) rs28933693 0.00046
NM_000275.3(OCA2):c.1465A>G (p.Asn489Asp) rs121918170 0.00043
NM_000053.4(ATP7B):c.1934T>G (p.Met645Arg) rs121907998 0.00041
NM_001126108.2(SLC12A3):c.2221G>A (p.Gly741Arg) rs138977195 0.00041
NM_000199.5(SGSH):c.734G>A (p.Arg245His) rs104894635 0.00039
NM_000441.2(SLC26A4):c.626G>T (p.Gly209Val) rs111033303 0.00039
NM_000277.3(PAH):c.1139C>T (p.Thr380Met) rs62642937 0.00036
NM_003982.4(SLC7A7):c.895-2A>T rs146582474 0.00036
NM_000277.3(PAH):c.898G>T (p.Ala300Ser) rs5030853 0.00034
NM_000492.4(CFTR):c.1327G>T (p.Asp443Tyr) rs147422190 0.00034
NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala) rs140522266 0.00034
NM_017739.4(POMGNT1):c.1539+1G>A rs138642840 0.00034
NM_018122.5(DARS2):c.492+2T>C rs142433332 0.00034
NM_000492.4(CFTR):c.3454G>C (p.Asp1152His) rs75541969 0.00033
NM_000035.4(ALDOB):c.524C>A (p.Ala175Asp) rs76917243 0.00030
NM_000359.3(TGM1):c.919C>G (p.Arg307Gly) rs121918731 0.00029
NM_000372.5(TYR):c.140G>A (p.Gly47Asp) rs61753180 0.00029
NM_000441.2(SLC26A4):c.1001+1G>A rs80338849 0.00029
NM_000492.4(CFTR):c.1624G>T (p.Gly542Ter) rs113993959 0.00029
NM_002016.2(FLG):c.3321del (p.Gly1109fs) rs200519781 0.00029
NM_000049.4(ASPA):c.854A>C (p.Glu285Ala) rs28940279 0.00028
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_000359.3(TGM1):c.877-2A>G rs142634031 0.00027
NM_000441.2(SLC26A4):c.-3-2A>G rs397516411 0.00027
NM_003907.3(EIF2B5):c.338G>A (p.Arg113His) rs113994049 0.00027
NM_000518.5(HBB):c.118C>T (p.Gln40Ter) rs11549407 0.00026
NM_000053.4(ATP7B):c.122A>G (p.Asn41Ser) rs201738967 0.00025
NM_001918.5(DBT):c.901C>T (p.Arg301Cys) rs185492864 0.00025
NM_001126108.2(SLC12A3):c.2856+1G>T rs199974259 0.00024
NM_182760.4(SUMF1):c.836C>T (p.Ala279Val) rs137852849 0.00024
NM_000275.3(OCA2):c.2228C>T (p.Pro743Leu) rs121918167 0.00023
NM_000098.3(CPT2):c.149C>A (p.Pro50His) rs28936375 0.00022
NM_001918.5(DBT):c.670G>T (p.Glu224Ter) rs74103423 0.00022
NM_000022.4(ADA):c.986C>T (p.Ala329Val) rs121908715 0.00021
NM_000199.5(SGSH):c.220C>T (p.Arg74Cys) rs104894636 0.00021
NM_000441.2(SLC26A4):c.1246A>C (p.Thr416Pro) rs28939086 0.00021
NM_000372.5(TYR):c.823G>T (p.Val275Phe) rs104894314 0.00019
NM_000414.4(HSD17B4):c.46G>A (p.Gly16Ser) rs137853096 0.00019
NM_000372.5(TYR):c.242C>T (p.Pro81Leu) rs28940876 0.00018
NM_000104.4(CYP1B1):c.182G>A (p.Gly61Glu) rs28936700 0.00017
NM_000441.2(SLC26A4):c.1151A>G (p.Glu384Gly) rs111033244 0.00016
NM_057176.3(BSND):c.139G>A (p.Gly47Arg) rs74315289 0.00016
NM_000049.4(ASPA):c.212G>A (p.Arg71His) rs104894553 0.00015
NM_000049.4(ASPA):c.914C>A (p.Ala305Glu) rs28940574 0.00015
NM_000053.4(ATP7B):c.2305A>G (p.Met769Val) rs193922103 0.00015
NM_000199.5(SGSH):c.892T>C (p.Ser298Pro) rs138504221 0.00015
NM_018136.5(ASPM):c.9178C>T (p.Gln3060Ter) rs137852994 0.00015
NM_183050.4(BCKDHB):c.853C>T (p.Arg285Ter) rs398124598 0.00015
NM_000275.3(OCA2):c.1182+1G>A rs371963034 0.00014
NM_000372.5(TYR):c.1467dup (p.Ala490fs) rs61754399 0.00014
NM_000642.3(AGL):c.256C>T (p.Gln86Ter) rs193186112 0.00014
NM_002016.2(FLG):c.6239C>A (p.Ser2080Ter) rs147145234 0.00014
NM_000023.4(SGCA):c.850C>T (p.Arg284Cys) rs137852623 0.00013
NM_000053.4(ATP7B):c.2755C>G (p.Arg919Gly) rs121907993 0.00013
NM_000169.3(GLA):c.1088G>A (p.Arg363His) rs111422676 0.00013
NM_000709.4(BCKDHA):c.1312T>A (p.Tyr438Asn) rs137852870 0.00013
NM_012434.5(SLC17A5):c.918T>G (p.Tyr306Ter) rs201284672 0.00013
NM_201253.3(CRB1):c.2401A>T (p.Lys801Ter) rs137853137 0.00013
NM_201253.3(CRB1):c.2843G>A (p.Cys948Tyr) rs62645748 0.00013
NM_000243.3(MEFV):c.2080A>G (p.Met694Val) rs61752717 0.00012
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter) rs111033364 0.00012
NM_000053.4(ATP7B):c.2930C>T (p.Thr977Met) rs72552255 0.00011
NM_000199.5(SGSH):c.197C>G (p.Ser66Trp) rs104894637 0.00011
NM_000359.3(TGM1):c.1135G>C (p.Val379Leu) rs121918720 0.00011
NM_000372.5(TYR):c.1336G>A (p.Gly446Ser) rs104894317 0.00011
NM_000441.2(SLC26A4):c.85G>C (p.Glu29Gln) rs111033205 0.00011
NM_001126108.2(SLC12A3):c.2554C>T (p.Arg852Cys) rs373899077 0.00011
NM_001918.5(DBT):c.827T>G (p.Phe276Cys) rs121964999 0.00011
NM_015506.3(MMACHC):c.331C>T (p.Arg111Ter) rs121918242 0.00011
NM_018122.5(DARS2):c.455G>T (p.Cys152Phe) rs121918208 0.00011
NM_153700.2(STRC):c.4057C>T (p.Gln1353Ter) rs774312182 0.00011
NM_153700.2(STRC):c.4402C>T (p.Arg1468Ter) rs377480477 0.00011
NM_000035.4(ALDOB):c.178C>T (p.Arg60Ter) rs118204429 0.00010
NM_000053.4(ATP7B):c.2333G>T (p.Arg778Leu) rs28942074 0.00010
NM_000277.3(PAH):c.842C>T (p.Pro281Leu) rs5030851 0.00010
NM_000317.3(PTS):c.317C>T (p.Thr106Met) rs200712908 0.00010
NM_001182.5(ALDH7A1):c.328C>T (p.Arg110Ter) rs121912708 0.00010
NM_001370658.1(BTD):c.1535C>T (p.Thr512Met) rs104893688 0.00010
NM_002016.2(FLG):c.7837A>T (p.Arg2613Ter) rs567795279 0.00010
NM_003060.4(SLC22A5):c.43G>T (p.Gly15Trp) rs267607052 0.00010
NM_006493.4(CLN5):c.448C>T (p.Arg150Ter) rs546989392 0.00010
NM_183050.4(BCKDHB):c.548G>C (p.Arg183Pro) rs79761867 0.00010
NM_000053.4(ATP7B):c.2336G>A (p.Trp779Ter) rs137853283 0.00009
NM_000053.4(ATP7B):c.3191A>C (p.Glu1064Ala) rs374094065 0.00009
NM_000053.4(ATP7B):c.3955C>T (p.Arg1319Ter) rs193922109 0.00009
NM_000359.3(TGM1):c.427C>T (p.Arg143Cys) rs531650682 0.00009
NM_000441.2(SLC26A4):c.2T>C (p.Met1Thr) rs111033302 0.00009
NM_000492.4(CFTR):c.1000C>T (p.Arg334Trp) rs121909011 0.00009
NM_000512.5(GALNS):c.901G>T (p.Gly301Cys) rs118204443 0.00009
NM_000518.5(HBB):c.93-21G>A rs35004220 0.00009
NM_000709.4(BCKDHA):c.853G>C (p.Ala285Pro) rs398123508 0.00009
NM_001126108.2(SLC12A3):c.1315G>A (p.Gly439Ser) rs759377924 0.00009
NM_182760.4(SUMF1):c.463T>C (p.Ser155Pro) rs137852850 0.00009
NM_000053.4(ATP7B):c.2731-2A>G rs367956522 0.00008
NM_000152.5(GAA):c.1552-3C>G rs375470378 0.00008
NM_000441.2(SLC26A4):c.1334T>G (p.Leu445Trp) rs111033307 0.00008
NM_000528.4(MAN2B1):c.1830+1G>C rs80338677 0.00008
NM_001042432.2(CLN3):c.1213C>T (p.Arg405Trp) rs139842473 0.00008
NM_001126108.2(SLC12A3):c.1664C>T (p.Ser555Leu) rs148038173 0.00008
NM_001126108.2(SLC12A3):c.2954G>A (p.Cys985Tyr) rs199849117 0.00008
NM_152564.5(VPS13B):c.436C>T (p.Arg146Ter) rs144539572 0.00008
NM_206933.4(USH2A):c.1256G>T (p.Cys419Phe) rs121912600 0.00008
NM_000022.4(ADA):c.320T>C (p.Leu107Pro) rs121908739 0.00007
NM_000528.4(MAN2B1):c.2046+2T>A rs748712495 0.00007
NM_012434.5(SLC17A5):c.1138_1139del (p.Val380fs) rs386833988 0.00007
NM_012434.5(SLC17A5):c.406A>G (p.Lys136Glu) rs80338795 0.00007
NM_015506.3(MMACHC):c.482G>A (p.Arg161Gln) rs121918243 0.00007
NM_054012.4(ASS1):c.535T>C (p.Trp179Arg) rs121908646 0.00007
NM_152443.3(RDH12):c.184C>T (p.Arg62Ter) rs104894471 0.00007
NM_153700.2(STRC):c.3670C>T (p.Arg1224Ter) rs727503444 0.00007
NM_000022.4(ADA):c.646G>A (p.Gly216Arg) rs121908723 0.00006
NM_000053.4(ATP7B):c.2906G>A (p.Arg969Gln) rs121907996 0.00006
NM_000191.3(HMGCL):c.109G>T (p.Glu37Ter) rs763494292 0.00006
NM_000283.4(PDE6B):c.1798G>A (p.Asp600Asn) rs764605140 0.00006
NM_000372.5(TYR):c.1A>G (p.Met1Val) rs28940881 0.00006
NM_000372.5(TYR):c.229C>T (p.Arg77Trp) rs61753184 0.00006
NM_000372.5(TYR):c.230G>A (p.Arg77Gln) rs61753185 0.00006
NM_000372.5(TYR):c.896G>A (p.Arg299His) rs61754375 0.00006
NM_000441.2(SLC26A4):c.1226G>A (p.Arg409His) rs111033305 0.00006
NM_000441.2(SLC26A4):c.1489G>A (p.Gly497Ser) rs111033308 0.00006
NM_000441.2(SLC26A4):c.1541A>G (p.Gln514Arg) rs111033316 0.00006
NM_000528.4(MAN2B1):c.2426T>C (p.Leu809Pro) rs80338681 0.00006
NM_000642.3(AGL):c.2590C>T (p.Arg864Ter) rs113994130 0.00006
NM_000642.3(AGL):c.3980G>A (p.Trp1327Ter) rs267606640 0.00006
NM_001126108.2(SLC12A3):c.482G>A (p.Trp161Ter) rs201190064 0.00006
NM_001369.3(DNAH5):c.13486C>T (p.Arg4496Ter) rs200901816 0.00006
NM_002016.2(FLG):c.3905C>A (p.Ser1302Ter) rs754812742 0.00006
NM_002016.2(FLG):c.4544C>A (p.Ser1515Ter) rs180768115 0.00006
NM_002016.2(FLG):c.7264G>T (p.Glu2422Ter) rs374588791 0.00006
NM_002016.2(FLG):c.9085C>T (p.Gln3029Ter) rs564628353 0.00006
NM_002485.5(NBN):c.127C>T (p.Arg43Ter) rs200287925 0.00006
NM_012434.5(SLC17A5):c.533del (p.Thr178fs) rs727504156 0.00006
NM_015506.3(MMACHC):c.481C>T (p.Arg161Ter) rs370596113 0.00006
NM_018136.5(ASPM):c.10168C>T (p.Arg3390Ter) rs587783211 0.00006
NM_025137.4(SPG11):c.6598A>T (p.Lys2200Ter) rs141263564 0.00006
NM_183050.4(BCKDHB):c.509G>A (p.Arg170His) rs371518124 0.00006
NM_000022.4(ADA):c.872C>T (p.Ser291Leu) rs121908721 0.00005
NM_000053.4(ATP7B):c.2123T>C (p.Leu708Pro) rs121908000 0.00005
NM_000053.4(ATP7B):c.2128G>A (p.Gly710Ser) rs137853285 0.00005
NM_000053.4(ATP7B):c.3182G>A (p.Gly1061Glu) rs764131178 0.00005
NM_000098.3(CPT2):c.98del (p.Gln33fs) rs917744011 0.00005
NM_000274.4(OAT):c.1250C>T (p.Pro417Leu) rs121965044 0.00005
NM_000512.5(GALNS):c.1559G>A (p.Trp520Ter) rs372893383 0.00005
NM_000531.6(OTC):c.118C>T (p.Arg40Cys) rs72554307 0.00005
NM_001126108.2(SLC12A3):c.2191G>A (p.Gly731Arg) rs752101663 0.00005
NM_003060.4(SLC22A5):c.1462C>T (p.Arg488Cys) rs377216516 0.00005
NM_003060.4(SLC22A5):c.51C>G (p.Phe17Leu) rs11568520 0.00005
NM_003060.4(SLC22A5):c.844C>T (p.Arg282Ter) rs121908886 0.00005
NM_012434.5(SLC17A5):c.719G>A (p.Trp240Ter) rs386833993 0.00005
NM_025099.6(CTC1):c.2959C>T (p.Arg987Trp) rs202138550 0.00005
NM_025137.4(SPG11):c.1085G>A (p.Trp362Ter) rs140385286 0.00005
NM_025137.4(SPG11):c.2431C>T (p.Gln811Ter) rs756134516 0.00005
NM_025137.4(SPG11):c.733_734del (p.Met245fs) rs312262720 0.00005
NM_000049.4(ASPA):c.79G>A (p.Gly27Arg) rs766328537 0.00004
NM_000053.4(ATP7B):c.1630C>T (p.Gln544Ter) rs766906034 0.00004
NM_000053.4(ATP7B):c.3443T>C (p.Ile1148Thr) rs60431989 0.00004
NM_000069.3(CACNA1S):c.900G>A (p.Trp300Ter) rs148317787 0.00004
NM_000191.3(HMGCL):c.122G>A (p.Arg41Gln) rs121964997 0.00004
NM_000199.5(SGSH):c.1129C>T (p.Arg377Cys) rs772311757 0.00004
NM_000277.3(PAH):c.727C>T (p.Arg243Ter) rs5030846 0.00004
NM_000359.3(TGM1):c.377G>A (p.Arg126His) rs200491579 0.00004
NM_000372.5(TYR):c.1147G>A (p.Asp383Asn) rs121908011 0.00004
NM_000372.5(TYR):c.1204C>T (p.Arg402Ter) rs62645917 0.00004
NM_000372.5(TYR):c.832C>T (p.Arg278Ter) rs62645904 0.00004
NM_000441.2(SLC26A4):c.2168A>G (p.His723Arg) rs121908362 0.00004
NM_000441.2(SLC26A4):c.279del (p.Ser93fs) rs786204421 0.00004
NM_000512.5(GALNS):c.415G>A (p.Gly139Ser) rs146093755 0.00004
NM_000543.5(SMPD1):c.557C>T (p.Pro186Leu) rs1057517195 0.00004
NM_000642.3(AGL):c.3965del (p.Val1322fs) rs113994132 0.00004
NM_001126108.2(SLC12A3):c.179C>T (p.Thr60Met) rs371443644 0.00004
NM_001126108.2(SLC12A3):c.3026G>A (p.Arg1009Gln) rs370175770 0.00004
NM_001126108.2(SLC12A3):c.473G>A (p.Arg158Gln) rs1274973729 0.00004
NM_001126108.2(SLC12A3):c.626G>A (p.Arg209Gln) rs758035631 0.00004
NM_001182.5(ALDH7A1):c.1513G>C (p.Gly505Arg) rs556400964 0.00004
NM_001253852.3(AP4B1):c.1177C>T (p.Arg393Ter) rs374894037 0.00004
NM_001360.3(DHCR7):c.1A>G (p.Met1Val) rs104886033 0.00004
NM_001377295.2(GNAT2):c.481C>T (p.Arg161Ter) rs745308973 0.00004
NM_001918.5(DBT):c.75_76del (p.Cys26fs) rs768832921 0.00004
NM_002016.2(FLG):c.10969C>T (p.Arg3657Ter) rs749083759 0.00004
NM_003060.4(SLC22A5):c.1319C>T (p.Thr440Met) rs72552732 0.00004
NM_003982.4(SLC7A7):c.377del (p.Ile126fs) rs774080549 0.00004
NM_003982.4(SLC7A7):c.625+1G>A rs386833822 0.00004
NM_006493.4(CLN5):c.838G>T (p.Gly280Ter) rs768449493 0.00004
NM_014363.6(SACS):c.2439_2440del (p.Val815fs) rs775059063 0.00004
NM_018136.5(ASPM):c.3811C>T (p.Arg1271Ter) rs140602858 0.00004
NM_018136.5(ASPM):c.6568C>T (p.Gln2190Ter) rs199910503 0.00004
NM_018136.5(ASPM):c.9190C>T (p.Arg3064Ter) rs199422185 0.00004
NM_018136.5(ASPM):c.9910C>T (p.Arg3304Ter) rs587783295 0.00004
NM_020366.4(RPGRIP1):c.154C>T (p.Arg52Ter) rs192003551 0.00004
NM_020366.4(RPGRIP1):c.2302C>T (p.Arg768Ter) rs75459701 0.00004
NM_025137.4(SPG11):c.1348dup (p.Ile450fs) rs312262725 0.00004
NM_025137.4(SPG11):c.3664_3665insT (p.Lys1222fs) rs312262755 0.00004
NM_052845.4(MMAB):c.571C>T (p.Arg191Trp) rs376128990 0.00004
NM_177550.5(SLC13A5):c.680C>T (p.Thr227Met) rs587777577 0.00004
NM_177550.5(SLC13A5):c.997C>T (p.Arg333Ter) rs773770609 0.00004
NM_181697.3(PRDX1):c.515-1G>T rs751828470 0.00004
NM_183050.4(BCKDHB):c.502C>T (p.Arg168Cys) rs398124579 0.00004
NM_201253.3(CRB1):c.2688T>A (p.Cys896Ter) rs62636273 0.00004
NM_206933.4(USH2A):c.9570+1G>A rs760225886 0.00004
NM_000022.4(ADA):c.478+1G>A rs761242509 0.00003
NM_000053.4(ATP7B):c.2332C>T (p.Arg778Trp) rs137853284 0.00003
NM_000053.4(ATP7B):c.2363C>T (p.Thr788Ile) rs541408630 0.00003
NM_000053.4(ATP7B):c.2804C>T (p.Thr935Met) rs750019452 0.00003
NM_000053.4(ATP7B):c.3809A>G (p.Asn1270Ser) rs121907990 0.00003
NM_000053.4(ATP7B):c.3818C>T (p.Pro1273Leu) rs758355520 0.00003
NM_000053.4(ATP7B):c.865C>T (p.Gln289Ter) rs121907999 0.00003
NM_000071.3(CBS):c.374G>A (p.Arg125Gln) rs781444670 0.00003
NM_000199.5(SGSH):c.1139A>G (p.Gln380Arg) rs144143780 0.00003
NM_000199.5(SGSH):c.697C>T (p.Arg233Ter) rs374621913 0.00003
NM_000275.3(OCA2):c.157del (p.Arg53fs) rs758894409 0.00003
NM_000277.3(PAH):c.526C>T (p.Arg176Ter) rs199475575 0.00003
NM_000277.3(PAH):c.631C>A (p.Pro211Thr) rs62514931 0.00003
NM_000359.3(TGM1):c.968G>A (p.Arg323Gln) rs121918717 0.00003
NM_000372.5(TYR):c.346C>T (p.Arg116Ter) rs61753256 0.00003
NM_000372.5(TYR):c.533G>A (p.Trp178Ter) rs61754360 0.00003
NM_000441.2(SLC26A4):c.2089+1G>A rs727503430 0.00003
NM_000441.2(SLC26A4):c.2162C>T (p.Thr721Met) rs121908363 0.00003
NM_000441.2(SLC26A4):c.2171A>G (p.Asp724Gly) rs757820624 0.00003
NM_000512.5(GALNS):c.331C>T (p.Gln111Ter) rs200374326 0.00003
NM_000518.5(HBB):c.315+1G>A rs33945777 0.00003
NM_000548.5(TSC2):c.4375C>T (p.Arg1459Ter) rs45517340 0.00003
NM_000642.3(AGL):c.16C>T (p.Gln6Ter) rs113994126 0.00003
NM_000642.3(AGL):c.2681+1G>A rs201201443 0.00003
NM_000642.3(AGL):c.3652C>T (p.Arg1218Ter) rs771853367 0.00003
NM_000642.3(AGL):c.4529dup (p.Tyr1510Ter) rs387906244 0.00003
NM_000709.4(BCKDHA):c.137C>A (p.Ser46Ter) rs376456598 0.00003
NM_001126108.2(SLC12A3):c.1670-191C>T rs374182921 0.00003
NM_001126108.2(SLC12A3):c.1844C>T (p.Ser615Leu) rs779160677 0.00003
NM_001126108.2(SLC12A3):c.1925G>A (p.Arg642His) rs147901432 0.00003
NM_001182.5(ALDH7A1):c.1292C>T (p.Pro431Leu) rs151107837 0.00003
NM_001182.5(ALDH7A1):c.589C>T (p.Pro197Ser) rs779652673 0.00003
NM_001253852.3(AP4B1):c.304C>T (p.Arg102Ter) rs777248758 0.00003
NM_001360.3(DHCR7):c.1342G>A (p.Glu448Lys) rs80338864 0.00003
NM_002016.2(FLG):c.1063C>T (p.Gln355Ter) rs142991475 0.00003
NM_002016.2(FLG):c.7249C>T (p.Gln2417Ter) rs528722713 0.00003
NM_002016.2(FLG):c.8117C>G (p.Ser2706Ter) rs542799026 0.00003
NM_002016.2(FLG):c.9887C>A (p.Ser3296Ter) rs761212672 0.00003
NM_002529.4(NTRK1):c.851-33T>A rs80356674 0.00003
NM_003060.4(SLC22A5):c.1053-2A>C rs777004046 0.00003
NM_003060.4(SLC22A5):c.506G>A (p.Arg169Gln) rs121908889 0.00003
NM_003982.4(SLC7A7):c.1402C>T (p.Arg468Ter) rs386833807 0.00003
NM_004004.6(GJB2):c.508_511dup (p.Ala171fs) rs773528125 0.00003
NM_006493.4(CLN5):c.522dup (p.Trp175fs) rs386833979 0.00003
NM_014363.6(SACS):c.9508C>T (p.Arg3170Ter) rs202199411 0.00003
NM_014625.4(NPHS2):c.948del (p.Ala317fs) rs775170915 0.00003
NM_015506.3(MMACHC):c.615C>A (p.Tyr205Ter) rs747527726 0.00003
NM_015506.3(MMACHC):c.666C>A (p.Tyr222Ter) rs201266016 0.00003
NM_018122.5(DARS2):c.172C>G (p.Arg58Gly) rs375700548 0.00003
NM_018136.5(ASPM):c.4422G>A (p.Trp1474Ter) rs147622433 0.00003
NM_025137.4(SPG11):c.6100C>T (p.Arg2034Ter) rs118203963 0.00003
NM_201253.3(CRB1):c.3307G>A (p.Gly1103Arg) rs62636275 0.00003
NM_206933.4(USH2A):c.10684G>T (p.Glu3562Ter) rs749702843 0.00003
NM_206933.4(USH2A):c.1606T>C (p.Cys536Arg) rs111033273 0.00003
NM_206933.4(USH2A):c.4957C>T (p.Arg1653Ter) rs754768875 0.00003
NM_206933.4(USH2A):c.6862G>T (p.Glu2288Ter) rs398124619 0.00003
NM_206933.4(USH2A):c.949C>A (p.Arg317=) rs111033272 0.00003
NM_000049.4(ASPA):c.820G>A (p.Gly274Arg) rs761064915 0.00002
NM_000053.4(ATP7B):c.2828G>A (p.Gly943Asp) rs779323689 0.00002
NM_000053.4(ATP7B):c.3007G>A (p.Ala1003Thr) rs201497300 0.00002
NM_000053.4(ATP7B):c.3053C>T (p.Ala1018Val) rs371840514 0.00002
NM_000169.3(GLA):c.593T>C (p.Ile198Thr) rs727503950 0.00002
NM_000186.4(CFH):c.1873G>T (p.Glu625Ter) rs150694809 0.00002
NM_000191.3(HMGCL):c.27del (p.Arg10fs) rs1409716731 0.00002
NM_000260.4(MYO7A):c.2904G>T (p.Glu968Asp) rs111033233 0.00002
NM_000271.5(NPC1):c.3557G>A (p.Arg1186His) rs200444084 0.00002
NM_000317.3(PTS):c.84-3C>G rs1230781262 0.00002
NM_000359.3(TGM1):c.160C>T (p.Arg54Ter) rs140000324 0.00002
NM_000359.3(TGM1):c.232C>T (p.Arg78Ter) rs760429286 0.00002
NM_000359.3(TGM1):c.316C>T (p.Arg106Ter) rs773303931 0.00002
NM_000359.3(TGM1):c.857G>A (p.Arg286Gln) rs121918727 0.00002
NM_000368.5(TSC1):c.2626G>T (p.Glu876Ter) rs747602915 0.00002
NM_000372.5(TYR):c.1037-1G>A rs61754382 0.00002
NM_000372.5(TYR):c.1037-2A>G rs748901196 0.00002
NM_000372.5(TYR):c.265T>C (p.Cys89Arg) rs28940877 0.00002
NM_000441.2(SLC26A4):c.1341+1G>C rs376653349 0.00002
NM_000441.2(SLC26A4):c.1588T>C (p.Tyr530His) rs111033254 0.00002
NM_000441.2(SLC26A4):c.1920G>A (p.Trp640Ter) rs368119540 0.00002
NM_000512.5(GALNS):c.1171A>G (p.Met391Val) rs398123429 0.00002
NM_000512.5(GALNS):c.498del (p.Phe167fs) rs772656696 0.00002
NM_000512.5(GALNS):c.860C>T (p.Ser287Leu) rs770053354 0.00002
NM_000518.5(HBB):c.82G>T (p.Ala28Ser) rs35424040 0.00002
NM_000528.4(MAN2B1):c.1929-1G>T rs763100457 0.00002
NM_000528.4(MAN2B1):c.2278C>T (p.Arg760Ter) rs121434331 0.00002
NM_000642.3(AGL):c.2039G>A (p.Trp680Ter) rs113994129 0.00002
NM_000709.4(BCKDHA):c.288+1G>A rs398123496 0.00002
NM_000709.4(BCKDHA):c.659C>T (p.Ala220Val) rs375785084 0.00002
NM_001042432.2(CLN3):c.1054C>T (p.Gln352Ter) rs386833697 0.00002
NM_001042492.3(NF1):c.4330A>G (p.Lys1444Glu) rs137854550 0.00002
NM_001126108.2(SLC12A3):c.1195C>T (p.Arg399Cys) rs775931992 0.00002
NM_001182.5(ALDH7A1):c.503_506del (p.Ile168fs) rs1064794241 0.00002
NM_001182.5(ALDH7A1):c.584A>G (p.Asn195Ser) rs372660425 0.00002
NM_001253852.3(AP4B1):c.894T>A (p.Cys298Ter) rs746462207 0.00002
NM_002485.5(NBN):c.1903A>T (p.Lys635Ter) rs587782545 0.00002
NM_002529.4(NTRK1):c.1945C>T (p.Arg649Trp) rs369353892 0.00002
NM_002529.4(NTRK1):c.1960C>T (p.Arg654Cys) rs764992664 0.00002
NM_002529.4(NTRK1):c.287+2dup rs768373757 0.00002
NM_003060.4(SLC22A5):c.1196G>A (p.Arg399Gln) rs121908891 0.00002
NM_003060.4(SLC22A5):c.845G>A (p.Arg282Gln) rs386134210 0.00002
NM_003060.4(SLC22A5):c.865C>T (p.Arg289Ter) rs386134212 0.00002
NM_003982.4(SLC7A7):c.545dup (p.Val183fs) rs386833818 0.00002
NM_004425.4(ECM1):c.157C>T (p.Arg53Ter) rs121909115 0.00002
NM_006493.4(CLN5):c.286C>T (p.Arg96Ter) rs386833971 0.00002
NM_012434.5(SLC17A5):c.507del (p.Ala169_Leu170insTer) rs386833992 0.00002
NM_014363.6(SACS):c.7504C>T (p.Arg2502Ter) rs281865118 0.00002
NM_014363.6(SACS):c.8716C>T (p.Arg2906Ter) rs750732115 0.00002
NM_014625.4(NPHS2):c.506T>C (p.Leu169Pro) rs762336297 0.00002
NM_015506.3(MMACHC):c.276G>T (p.Glu92Asp) rs556977618 0.00002
NM_015506.3(MMACHC):c.457C>T (p.Arg153Ter) rs757325789 0.00002
NM_015506.3(MMACHC):c.608G>A (p.Trp203Ter) rs398124295 0.00002
NM_015506.3(MMACHC):c.609G>A (p.Trp203Ter) rs587776889 0.00002
NM_018136.5(ASPM):c.1671_1672del (p.Ser557fs) rs587783220 0.00002
NM_018136.5(ASPM):c.2791C>T (p.Arg931Ter) rs587783227 0.00002
NM_020366.4(RPGRIP1):c.1892A>G (p.His631Arg) rs535922252 0.00002
NM_025137.4(SPG11):c.1951C>T (p.Arg651Ter) rs199588440 0.00002
NM_025137.4(SPG11):c.5623C>T (p.Gln1875Ter) rs141848292 0.00002
NM_025137.4(SPG11):c.704_705del (p.His235fs) rs312262719 0.00002
NM_032861.4(SERAC1):c.442C>T (p.Arg148Ter) rs387907236 0.00002
NM_138691.3(TMC1):c.821C>T (p.Pro274Leu) rs755694066 0.00002
NM_201253.3(CRB1):c.1084C>T (p.Gln362Ter) rs778627080 0.00002
NM_201253.3(CRB1):c.1841G>T (p.Gly614Val) rs763111500 0.00002
NM_201253.3(CRB1):c.3676G>T (p.Gly1226Ter) rs757740068 0.00002
NM_201253.3(CRB1):c.3991C>T (p.Arg1331Cys) rs760544654 0.00002
NM_206933.4(USH2A):c.1227G>A (p.Trp409Ter) rs397517979 0.00002
NM_206933.4(USH2A):c.13621C>T (p.Gln4541Ter) rs765476745 0.00002
NM_206933.4(USH2A):c.4645C>T (p.Arg1549Ter) rs199679165 0.00002
NM_206933.4(USH2A):c.9371+1G>C rs41308425 0.00002
NM_000018.4(ACADVL):c.553G>A (p.Gly185Ser) rs545215807 0.00001
NM_000022.4(ADA):c.424C>T (p.Arg142Ter) rs780014431 0.00001
NM_000022.4(ADA):c.466C>T (p.Arg156Cys) rs121908735 0.00001
NM_000023.4(SGCA):c.101G>A (p.Arg34His) rs371675217 0.00001
NM_000023.4(SGCA):c.157+1G>A rs113109898 0.00001
NM_000023.4(SGCA):c.313-2A>G rs1057516650 0.00001
NM_000023.4(SGCA):c.530del (p.Ser177fs) rs886041387 0.00001
NM_000023.4(SGCA):c.574C>T (p.Arg192Ter) rs387907298 0.00001
NM_000023.4(SGCA):c.585-1G>A rs1342189589 0.00001
NM_000033.4(ABCD1):c.1553G>A (p.Arg518Gln) rs398123102 0.00001
NM_000033.4(ABCD1):c.1817C>T (p.Ser606Leu) rs128624225 0.00001
NM_000049.4(ASPA):c.634+1G>T rs753871454 0.00001
NM_000049.4(ASPA):c.859G>A (p.Ala287Thr) rs774323189 0.00001
NM_000053.4(ATP7B):c.1708-1G>C rs137853280 0.00001
NM_000053.4(ATP7B):c.1746dup (p.Glu583fs) rs1566559605 0.00001
NM_000053.4(ATP7B):c.1782del (p.Thr593_Tyr594insTer) rs780327716 0.00001
NM_000053.4(ATP7B):c.1847G>A (p.Arg616Gln) rs752850609 0.00001
NM_000053.4(ATP7B):c.2293G>A (p.Asp765Asn) rs28942075 0.00001
NM_000053.4(ATP7B):c.2383C>T (p.Leu795Phe) rs751710854 0.00001
NM_000053.4(ATP7B):c.2519C>T (p.Pro840Leu) rs768671894 0.00001
NM_000053.4(ATP7B):c.2621C>T (p.Ala874Val) rs121907994 0.00001
NM_000053.4(ATP7B):c.2827G>A (p.Gly943Ser) rs28942076 0.00001
NM_000053.4(ATP7B):c.2865+1G>A rs587783306 0.00001
NM_000053.4(ATP7B):c.2866-2A>C rs1377418826 0.00001
NM_000053.4(ATP7B):c.2975C>T (p.Pro992Leu) rs201038679 0.00001
NM_000053.4(ATP7B):c.3107dup (p.Arg1038fs) rs886043423 0.00001
NM_000053.4(ATP7B):c.3263T>A (p.Leu1088Ter) rs753250853 0.00001
NM_000053.4(ATP7B):c.3305T>C (p.Ile1102Thr) rs560952220 0.00001
NM_000053.4(ATP7B):c.3556+1G>A rs184388696 0.00001
NM_000053.4(ATP7B):c.3766C>T (p.Gln1256Ter) rs1957048901 0.00001
NM_000053.4(ATP7B):c.4058G>A (p.Trp1353Ter) rs193922110 0.00001
NM_000053.4(ATP7B):c.44del (p.Ser15fs) rs1192728612 0.00001
NM_000053.4(ATP7B):c.51+4A>T rs369488210 0.00001
NM_000069.3(CACNA1S):c.1234C>T (p.Arg412Ter) rs767052156 0.00001
NM_000098.3(CPT2):c.1666_1667del (p.Leu556fs) rs1557719455 0.00001
NM_000098.3(CPT2):c.1891C>T (p.Arg631Cys) rs74315293 0.00001
NM_000098.3(CPT2):c.28_29insAGCAAG (p.Trp10Ter) rs1374482155 0.00001
NM_000137.4(FAH):c.1025C>T (p.Pro342Leu) rs779040832 0.00001
NM_000169.3(GLA):c.1025G>A (p.Arg342Gln) rs28935493 0.00001
NM_000169.3(GLA):c.124A>C (p.Met42Leu) rs797044613 0.00001
NM_000169.3(GLA):c.644A>G (p.Asn215Ser) rs28935197 0.00001
NM_000169.3(GLA):c.679C>T (p.Arg227Ter) rs104894841 0.00001
NM_000191.3(HMGCL):c.121C>T (p.Arg41Ter) rs770225915 0.00001
NM_000191.3(HMGCL):c.31C>T (p.Arg11Ter) rs1212444447 0.00001
NM_000191.3(HMGCL):c.602C>A (p.Ser201Tyr) rs760106433 0.00001
NM_000199.5(SGSH):c.1135del (p.Val379fs) rs777956287 0.00001
NM_000199.5(SGSH):c.268G>A (p.Gly90Arg) rs774010006 0.00001
NM_000199.5(SGSH):c.2T>C (p.Met1Thr) rs1488660868 0.00001
NM_000199.5(SGSH):c.449G>A (p.Arg150Gln) rs104894638 0.00001
NM_000199.5(SGSH):c.544C>T (p.Arg182Cys) rs529855742 0.00001
NM_000199.5(SGSH):c.582T>A (p.Cys194Ter) rs1555621659 0.00001
NM_000199.5(SGSH):c.629G>A (p.Trp210Ter) rs886041370 0.00001
NM_000199.5(SGSH):c.817G>A (p.Asp273Asn) rs1046551417 0.00001
NM_000202.8(IDS):c.1403G>A (p.Arg468Gln) rs113993946 0.00001
NM_000260.4(MYO7A):c.1708C>T (p.Arg570Ter) rs1591310948 0.00001
NM_000277.3(PAH):c.781C>T (p.Arg261Ter) rs5030850 0.00001
NM_000317.3(PTS):c.186+1G>T rs1256819927 0.00001
NM_000317.3(PTS):c.260C>T (p.Pro87Leu) rs765406631 0.00001
NM_000317.3(PTS):c.286G>A (p.Asp96Asn) rs104894280 0.00001
NM_000317.3(PTS):c.297C>A (p.Tyr99Ter) rs145882709 0.00001
NM_000337.6(SGCD):c.493C>T (p.Arg165Ter) rs121909295 0.00001
NM_000359.3(TGM1):c.1042C>T (p.Arg348Ter) rs1296165092 0.00001
NM_000359.3(TGM1):c.184G>T (p.Gly62Ter) rs886041950 0.00001
NM_000359.3(TGM1):c.2278C>T (p.Arg760Ter) rs398122904 0.00001
NM_000359.3(TGM1):c.379C>T (p.Arg127Ter) rs886041250 0.00001
NM_000359.3(TGM1):c.788G>A (p.Trp263Ter) rs367699137 0.00001
NM_000359.3(TGM1):c.872G>A (p.Gly291Asp) rs780990272 0.00001
NM_000372.5(TYR):c.1036+1G>A rs763715899 0.00001
NM_000372.5(TYR):c.1036G>T (p.Gly346Ter) rs1013801316 0.00001
NM_000372.5(TYR):c.1255G>A (p.Gly419Arg) rs61754392 0.00001
NM_000372.5(TYR):c.164G>A (p.Cys55Tyr) rs28940879 0.00001
NM_000372.5(TYR):c.61C>T (p.Pro21Ser) rs61753178 0.00001
NM_000372.5(TYR):c.658C>T (p.Gln220Ter) rs797046083 0.00001
NM_000372.5(TYR):c.74dup (p.Ser26fs) rs1057518763 0.00001
NM_000372.5(TYR):c.880G>A (p.Glu294Lys) rs757754120 0.00001
NM_000396.4(CTSK):c.436G>C (p.Gly146Arg) rs74315302 0.00001
NM_000404.4(GLB1):c.1369C>T (p.Arg457Ter) rs72555359 0.00001
NM_000410.4(HFE):c.211C>T (p.Arg71Ter) rs759524388 0.00001
NM_000441.2(SLC26A4):c.1614+1G>A rs111033312 0.00001
NM_000441.2(SLC26A4):c.1615-2A>G rs758823761 0.00001
NM_000441.2(SLC26A4):c.1975G>C (p.Val659Leu) rs200455203 0.00001
NM_000441.2(SLC26A4):c.2086C>T (p.Gln696Ter) rs752807925 0.00001
NM_000441.2(SLC26A4):c.2319+1G>A rs542079779 0.00001
NM_000441.2(SLC26A4):c.578C>T (p.Thr193Ile) rs111033348 0.00001
NM_000441.2(SLC26A4):c.68C>A (p.Ser23Ter) rs397516430 0.00001
NM_000441.2(SLC26A4):c.916dup (p.Val306fs) rs768245266 0.00001
NM_000455.5(STK11):c.290+1G>A rs1131690950 0.00001
NM_000492.4(CFTR):c.376G>A (p.Gly126Ser) rs397508606 0.00001
NM_000512.5(GALNS):c.1012C>T (p.Gln338Ter) rs767131589 0.00001
NM_000512.5(GALNS):c.1175C>T (p.Ala392Val) rs398123430 0.00001
NM_000512.5(GALNS):c.1240C>T (p.Gln414Ter) rs757870208 0.00001
NM_000512.5(GALNS):c.268C>T (p.Arg90Trp) rs1028668536 0.00001
NM_000512.5(GALNS):c.320-1G>T rs1245504167 0.00001
NM_000512.5(GALNS):c.463G>A (p.Gly155Arg) rs398123438 0.00001
NM_000512.5(GALNS):c.477G>A (p.Trp159Ter) rs398123439 0.00001
NM_000512.5(GALNS):c.485C>T (p.Ser162Phe) rs118204444 0.00001
NM_000512.5(GALNS):c.898+1G>A rs761850746 0.00001
NM_000512.5(GALNS):c.953T>G (p.Met318Arg) rs746756997 0.00001
NM_000518.5(HBB):c.48G>A (p.Trp16Ter) rs34716011 0.00001
NM_000518.5(HBB):c.92+5G>C rs33915217 0.00001
NM_000525.4(KCNJ11):c.776A>G (p.His259Arg) rs104894248 0.00001
NM_000528.4(MAN2B1):c.1351G>T (p.Gly451Cys) rs368899357 0.00001
NM_000528.4(MAN2B1):c.1645-1G>A rs938576591 0.00001
NM_000528.4(MAN2B1):c.1687G>T (p.Glu563Ter) rs1057516927 0.00001
NM_000528.4(MAN2B1):c.1831-2A>G rs80338678 0.00001
NM_000528.4(MAN2B1):c.2436+2T>C rs398123457 0.00001
NM_000528.4(MAN2B1):c.308C>T (p.Ser103Leu) rs1369134650 0.00001
NM_000528.4(MAN2B1):c.422del (p.Asp141fs) rs778399351 0.00001
NM_000528.4(MAN2B1):c.562C>T (p.Arg188Ter) rs1429239930 0.00001
NM_000528.4(MAN2B1):c.685C>T (p.Arg229Trp) rs763257568 0.00001
NM_000546.6(TP53):c.1010G>A (p.Arg337His) rs121912664 0.00001
NM_000546.6(TP53):c.375G>A (p.Thr125=) rs55863639 0.00001
NM_000546.6(TP53):c.376-1G>A rs868137297 0.00001
NM_000546.6(TP53):c.524G>A (p.Arg175His) rs28934578 0.00001
NM_000546.6(TP53):c.725G>A (p.Cys242Tyr) rs121912655 0.00001
NM_000546.6(TP53):c.783-1G>A rs1555525367 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_000642.3(AGL):c.100C>T (p.Arg34Ter) rs781580050 0.00001
NM_000642.3(AGL):c.1078C>T (p.His360Tyr) rs763554006 0.00001
NM_000642.3(AGL):c.1222C>T (p.Arg408Ter) rs113994128 0.00001
NM_000642.3(AGL):c.1571G>A (p.Arg524His) rs758182700 0.00001
NM_000642.3(AGL):c.1735+1G>T rs199922945 0.00001
NM_000642.3(AGL):c.1783C>T (p.Arg595Ter) rs765367405 0.00001
NM_000642.3(AGL):c.22C>T (p.Arg8Ter) rs1057516870 0.00001
NM_000642.3(AGL):c.22del (p.Arg8fs) rs1215043175 0.00001
NM_000642.3(AGL):c.2309-1G>A rs786204481 0.00001
NM_000642.3(AGL):c.2728C>T (p.Arg910Ter) rs773095419 0.00001
NM_000642.3(AGL):c.276del (p.Gln92fs) rs1057517243 0.00001
NM_000642.3(AGL):c.2929C>T (p.Arg977Ter) rs531425980 0.00001
NM_000642.3(AGL):c.3554del (p.Thr1185fs) rs764318570 0.00001
NM_000642.3(AGL):c.3682C>T (p.Arg1228Ter) rs113994131 0.00001
NM_000642.3(AGL):c.595C>T (p.Gln199Ter) rs780694207 0.00001
NM_000642.3(AGL):c.853C>T (p.Arg285Ter) rs755747010 0.00001
NM_000642.3(AGL):c.94C>T (p.Gln32Ter) rs786204489 0.00001
NM_000709.4(BCKDHA):c.1036C>T (p.Arg346Cys) rs182923857 0.00001
NM_000709.4(BCKDHA):c.1234G>A (p.Val412Met) rs398123490 0.00001
NM_000709.4(BCKDHA):c.127C>T (p.Gln43Ter) rs374625613 0.00001
NM_000709.4(BCKDHA):c.632C>T (p.Thr211Met) rs398123503 0.00001
NM_000709.4(BCKDHA):c.647-1G>C rs753216964 0.00001
NM_000709.4(BCKDHA):c.854-2A>G rs760494152 0.00001
NM_000709.4(BCKDHA):c.868G>A (p.Gly290Arg) rs137852871 0.00001
NM_000709.4(BCKDHA):c.940C>T (p.Arg314Ter) rs753698250 0.00001
NM_000709.4(BCKDHA):c.979G>A (p.Glu327Lys) rs398123515 0.00001
NM_001042432.2(CLN3):c.949C>T (p.Gln317Ter) rs796052335 0.00001
NM_001042492.3(NF1):c.1260+1G>A rs267606603 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.1627C>T (p.Gln543Ter) rs894292181 0.00001
NM_001042492.3(NF1):c.1721+1G>A rs1131691096 0.00001
NM_001042492.3(NF1):c.2041C>T (p.Arg681Ter) rs768638173 0.00001
NM_001042492.3(NF1):c.2510G>A (p.Trp837Ter) rs1348129244 0.00001
NM_001042492.3(NF1):c.3709-2A>G rs1597722374 0.00001
NM_001042492.3(NF1):c.3827G>A (p.Arg1276Gln) rs137854556 0.00001
NM_001042492.3(NF1):c.4600C>T (p.Arg1534Ter) rs760703505 0.00001
NM_001042492.3(NF1):c.5488C>T (p.Arg1830Cys) rs797045139 0.00001
NM_001042492.3(NF1):c.574C>T (p.Arg192Ter) rs397514641 0.00001
NM_001042492.3(NF1):c.5812+332A>G rs863224491 0.00001
NM_001042492.3(NF1):c.6006G>A (p.Gln2002=) rs1555534432 0.00001
NM_001042492.3(NF1):c.6674G>A (p.Trp2225Ter) rs1193716348 0.00001
NM_001042492.3(NF1):c.6704+1G>T rs1060500376 0.00001
NM_001042492.3(NF1):c.6855C>G (p.Tyr2285Ter) rs772295894 0.00001
NM_001111.5(ADAR):c.2433_2434del (p.Ala813fs) rs779357448 0.00001
NM_001126108.2(SLC12A3):c.1180+1G>T rs749098014 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_001182.5(ALDH7A1):c.1003C>T (p.Arg335Ter) rs1015686016 0.00001
NM_001182.5(ALDH7A1):c.1061A>G (p.Tyr354Cys) rs1471249688 0.00001
NM_001182.5(ALDH7A1):c.1489+5G>A rs368820286 0.00001
NM_001182.5(ALDH7A1):c.1547A>G (p.Tyr516Cys) rs200102503 0.00001
NM_001182.5(ALDH7A1):c.1566-1G>T rs140845195 0.00001
NM_001182.5(ALDH7A1):c.530C>A (p.Ala177Glu) rs764417585 0.00001
NM_001182.5(ALDH7A1):c.796C>T (p.Arg266Ter) rs1270423610 0.00001
NM_001182.5(ALDH7A1):c.901_902del (p.Asn301fs) rs1064794240 0.00001
NM_001243279.3(ACSF3):c.1310G>A (p.Trp437Ter) rs1243213118 0.00001
NM_001253852.3(AP4B1):c.1057C>T (p.Arg353Ter) rs138335735 0.00001
NM_001253852.3(AP4B1):c.114-2A>G rs879255396 0.00001
NM_001276345.2(TNNT2):c.304C>T (p.Arg102Trp) rs397516456 0.00001
NM_001365088.1(SLC12A6):c.3031C>T (p.Arg1011Ter) rs121908427 0.00001
NM_001365088.1(SLC12A6):c.379G>T (p.Glu127Ter) rs199747285 0.00001
NM_001365999.1(SZT2):c.9874C>T (p.Arg3292Ter) rs1302034044 0.00001
NM_001378454.1(ALMS1):c.11668+1G>A rs1181992959 0.00001
NM_001918.5(DBT):c.1291C>T (p.Arg431Ter) rs398123660 0.00001
NM_001918.5(DBT):c.434-15_434-4del rs727503895 0.00001
NM_001918.5(DBT):c.871C>T (p.Arg291Ter) rs398123675 0.00001
NM_001918.5(DBT):c.939G>C (p.Lys313Asn) rs398123676 0.00001
NM_002485.5(NBN):c.1030C>T (p.Gln344Ter) rs767215758 0.00001
NM_002485.5(NBN):c.11del (p.Leu4fs) rs1064793210 0.00001
NM_002485.5(NBN):c.123del (p.Ser42fs) rs587781891 0.00001
NM_002485.5(NBN):c.1716dup (p.Glu573fs) rs1060503483 0.00001
NM_002485.5(NBN):c.1741C>T (p.Gln581Ter) rs1337679118 0.00001
NM_002485.5(NBN):c.175C>T (p.Gln59Ter) rs1554568427 0.00001
NM_002485.5(NBN):c.2117C>G (p.Ser706Ter) rs730881857 0.00001
NM_002485.5(NBN):c.2140C>T (p.Arg714Ter) rs730881864 0.00001
NM_002485.5(NBN):c.265C>T (p.Arg89Ter) rs1057516320 0.00001
NM_002485.5(NBN):c.60del (p.Gly21fs) rs758708229 0.00001
NM_002485.5(NBN):c.7A>T (p.Lys3Ter) rs779098734 0.00001
NM_002485.5(NBN):c.842T>G (p.Leu281Ter) rs786205135 0.00001
NM_002529.4(NTRK1):c.1804C>T (p.Arg602Ter) rs763758904 0.00001
NM_002529.4(NTRK1):c.574+1G>A rs1232901259 0.00001
NM_003060.4(SLC22A5):c.1202dup (p.Tyr401Ter) rs121908887 0.00001
NM_003060.4(SLC22A5):c.12C>G (p.Tyr4Ter) rs72552722 0.00001
NM_003060.4(SLC22A5):c.137C>T (p.Pro46Leu) rs377767445 0.00001
NM_003060.4(SLC22A5):c.396G>A (p.Trp132Ter) rs72552727 0.00001
NM_003060.4(SLC22A5):c.652+1G>A rs386134200 0.00001
NM_003060.4(SLC22A5):c.806del (p.Leu269fs) rs386134204 0.00001
NM_003060.4(SLC22A5):c.95A>G (p.Asn32Ser) rs72552725 0.00001
NM_003982.4(SLC7A7):c.726G>A (p.Trp242Ter) rs121908679 0.00001
NM_005476.7(GNE):c.2135T>C (p.Met712Thr) rs28937594 0.00001
NM_006516.4(SLC2A1):c.1454C>T (p.Pro485Leu) rs1159593580 0.00001
NM_006516.4(SLC2A1):c.277C>T (p.Arg93Trp) rs267607061 0.00001
NM_006912.6(RIT1):c.104G>C (p.Ser35Thr) rs869025189 0.00001
NM_014363.6(SACS):c.10136T>G (p.Leu3379Ter) rs1057517250 0.00001
NM_014363.6(SACS):c.10906C>T (p.Arg3636Ter) rs780247476 0.00001
NM_014363.6(SACS):c.11707C>T (p.Arg3903Ter) rs774906736 0.00001
NM_014363.6(SACS):c.12160C>T (p.Gln4054Ter) rs281865120 0.00001
NM_014363.6(SACS):c.4744G>A (p.Asp1582Asn) rs1160357920 0.00001
NM_014363.6(SACS):c.5143A>T (p.Lys1715Ter) rs755824618 0.00001
NM_014363.6(SACS):c.7273C>T (p.Arg2425Ter) rs145766983 0.00001
NM_014363.6(SACS):c.814C>T (p.Arg272Cys) rs374128662 0.00001
NM_014363.6(SACS):c.8844del (p.Ile2949fs) rs281865117 0.00001
NM_014363.6(SACS):c.9305T>A (p.Leu3102Ter) rs886041949 0.00001
NM_014625.4(NPHS2):c.211C>T (p.Arg71Ter) rs1462028977 0.00001
NM_014625.4(NPHS2):c.378+1G>A rs762631237 0.00001
NM_014625.4(NPHS2):c.412C>T (p.Arg138Ter) rs74315343 0.00001
NM_014625.4(NPHS2):c.538G>A (p.Val180Met) rs74315347 0.00001
NM_015046.7(SETX):c.4087C>T (p.Arg1363Ter) rs121434376 0.00001
NM_015506.3(MMACHC):c.1A>G (p.Met1Val) rs758477536 0.00001
NM_015506.3(MMACHC):c.217C>T (p.Arg73Ter) rs796051995 0.00001
NM_015506.3(MMACHC):c.292C>T (p.Gln98Ter) rs759188647 0.00001
NM_015506.3(MMACHC):c.384del (p.Tyr129fs) rs1347498294 0.00001
NM_015506.3(MMACHC):c.394C>T (p.Arg132Ter) rs121918241 0.00001
NM_015506.3(MMACHC):c.398_399del (p.Gln133fs) rs746135357 0.00001
NM_015506.3(MMACHC):c.3G>A (p.Met1Ile) rs779893448 0.00001
NM_015506.3(MMACHC):c.420G>A (p.Trp140Ter) rs796051996 0.00001
NM_015506.3(MMACHC):c.567dup (p.Ile190fs) rs1463495909 0.00001
NM_015506.3(MMACHC):c.80A>G (p.Gln27Arg) rs546099787 0.00001
NM_015627.3(LDLRAP1):c.406C>T (p.Gln136Ter) rs121908325 0.00001
NM_015627.3(LDLRAP1):c.431dup (p.His144fs) rs750383461 0.00001
NM_018136.5(ASPM):c.10055_10056insGG (p.Ile3352fs) rs754767041 0.00001
NM_018136.5(ASPM):c.1789C>T (p.Arg597Ter) rs759485449 0.00001
NM_018136.5(ASPM):c.2863C>T (p.Gln955Ter) rs774338373 0.00001
NM_018136.5(ASPM):c.3796G>T (p.Glu1266Ter) rs199422161 0.00001
NM_018136.5(ASPM):c.4612C>T (p.Arg1538Ter) rs751326753 0.00001
NM_018136.5(ASPM):c.6232C>T (p.Arg2078Ter) rs199422168 0.00001
NM_018136.5(ASPM):c.7324C>T (p.Arg2442Ter) rs769364943 0.00001
NM_018136.5(ASPM):c.8711_8712del (p.Gln2904fs) rs587783283 0.00001
NM_018136.5(ASPM):c.9454C>T (p.Arg3152Ter) rs587783292 0.00001
NM_018136.5(ASPM):c.9659G>A (p.Trp3220Ter) rs77424753 0.00001
NM_018136.5(ASPM):c.9730C>T (p.Arg3244Ter) rs199422195 0.00001
NM_019032.6(ADAMTSL4):c.421C>T (p.Arg141Ter) rs757318536 0.00001
NM_020366.4(RPGRIP1):c.2440C>T (p.Arg814Ter) rs759940113 0.00001
NM_020366.4(RPGRIP1):c.2554C>T (p.Arg852Ter) rs1429786931 0.00001
NM_020366.4(RPGRIP1):c.2775G>A (p.Trp925Ter) rs398124354 0.00001
NM_020366.4(RPGRIP1):c.3565C>T (p.Arg1189Ter) rs752175052 0.00001
NM_020366.4(RPGRIP1):c.800+1G>A rs376500610 0.00001
NM_022455.5(NSD1):c.5740C>T (p.Arg1914Cys) rs587784154 0.00001
NM_025137.4(SPG11):c.1457-2A>G rs312262726 0.00001
NM_025137.4(SPG11):c.1492C>T (p.Gln498Ter) rs312262728 0.00001
NM_025137.4(SPG11):c.1621C>T (p.Gln541Ter) rs765061840 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_025137.4(SPG11):c.4790G>A (p.Trp1597Ter) rs753920931 0.00001
NM_025137.4(SPG11):c.4888G>T (p.Glu1630Ter) rs368276916 0.00001
NM_025137.4(SPG11):c.5158C>T (p.Gln1720Ter) rs1060501173 0.00001
NM_025137.4(SPG11):c.5470C>T (p.Arg1824Ter) rs312262767 0.00001
NM_025137.4(SPG11):c.5772_5781dup (p.His1928fs) rs779321661 0.00001
NM_025137.4(SPG11):c.5866+1G>A rs765725393 0.00001
NM_025137.4(SPG11):c.5986dup (p.Cys1996fs) rs312262775 0.00001
NM_025137.4(SPG11):c.6856C>T (p.Arg2286Ter) rs312262785 0.00001
NM_025137.4(SPG11):c.796C>T (p.Gln266Ter) rs1234882277 0.00001
NM_032520.5(GNPTG):c.196C>T (p.Arg66Ter) rs193302848 0.00001
NM_032520.5(GNPTG):c.233+1G>A rs376679416 0.00001
NM_032861.4(SERAC1):c.1126C>T (p.Gln376Ter) rs199632531 0.00001
NM_032861.4(SERAC1):c.916C>T (p.Arg306Ter) rs780664696 0.00001
NM_138694.4(PKHD1):c.982C>T (p.Arg328Ter) rs398124503 0.00001
NM_153700.2(STRC):c.4837G>T (p.Glu1613Ter) rs769443188 0.00001
NM_177550.5(SLC13A5):c.1022G>A (p.Trp341Ter) rs150203483 0.00001
NM_182760.4(SUMF1):c.1045C>T (p.Arg349Trp) rs137852846 0.00001
NM_183050.4(BCKDHB):c.1159C>T (p.Arg387Ter) rs751599203 0.00001
NM_183050.4(BCKDHB):c.633+1G>A rs398124589 0.00001
NM_183050.4(BCKDHB):c.752T>C (p.Val251Ala) rs398124593 0.00001
NM_183050.4(BCKDHB):c.799C>T (p.Gln267Ter) rs398124594 0.00001
NM_183050.4(BCKDHB):c.79_89del (p.Pro27fs) rs1057516795 0.00001
NM_201253.3(CRB1):c.1149dup (p.Ile384fs) rs1660517678 0.00001
NM_201253.3(CRB1):c.1576C>T (p.Arg526Ter) rs114342808 0.00001
NM_201253.3(CRB1):c.2171A>G (p.Tyr724Cys) rs765676754 0.00001
NM_201253.3(CRB1):c.2300T>C (p.Leu767Pro) rs1451348539 0.00001
NM_201253.3(CRB1):c.3122T>C (p.Met1041Thr) rs62635656 0.00001
NM_201253.3(CRB1):c.4039del (p.Thr1347fs) rs745422941 0.00001
NM_201253.3(CRB1):c.653-1G>T rs760287363 0.00001
NM_206933.4(USH2A):c.11047+1G>A rs201730567 0.00001
NM_206933.4(USH2A):c.11105G>A (p.Trp3702Ter) rs1057519193 0.00001
NM_206933.4(USH2A):c.11754G>A (p.Trp3918Ter) rs1358947010 0.00001
NM_206933.4(USH2A):c.12067-2A>G rs397517978 0.00001
NM_206933.4(USH2A):c.13576C>T (p.Arg4526Ter) rs1003869920 0.00001
NM_206933.4(USH2A):c.14803C>T (p.Arg4935Ter) rs146733615 0.00001
NM_206933.4(USH2A):c.1841-2A>G rs397518003 0.00001
NM_206933.4(USH2A):c.1876C>T (p.Arg626Ter) rs534534437 0.00001
NM_206933.4(USH2A):c.187C>T (p.Arg63Ter) rs781223647 0.00001
NM_206933.4(USH2A):c.2168-1G>C rs748961218 0.00001
NM_206933.4(USH2A):c.2209C>T (p.Arg737Ter) rs111033334 0.00001
NM_206933.4(USH2A):c.2541C>A (p.Cys847Ter) rs727503736 0.00001
NM_206933.4(USH2A):c.2610C>A (p.Cys870Ter) rs767078782 0.00001
NM_206933.4(USH2A):c.2797C>T (p.Gln933Ter) rs1394737087 0.00001
NM_206933.4(USH2A):c.3309C>A (p.Tyr1103Ter) rs397518011 0.00001
NM_206933.4(USH2A):c.3317-2A>G rs2034951427 0.00001
NM_206933.4(USH2A):c.3883C>T (p.Arg1295Ter) rs764797292 0.00001
NM_206933.4(USH2A):c.4576G>A (p.Gly1526Arg) rs769198746 0.00001
NM_206933.4(USH2A):c.5399G>A (p.Trp1800Ter) rs1553299079 0.00001
NM_206933.4(USH2A):c.5776+1G>A rs876657731 0.00001
NM_206933.4(USH2A):c.5836C>T (p.Arg1946Ter) rs751130485 0.00001
NM_206933.4(USH2A):c.6224G>A (p.Trp2075Ter) rs111033386 0.00001
NM_206933.4(USH2A):c.8167C>T (p.Arg2723Ter) rs200712760 0.00001
NM_206933.4(USH2A):c.8834G>A (p.Trp2945Ter) rs760302201 0.00001
NM_206933.4(USH2A):c.9056-2A>G rs754970095 0.00001
NM_206933.4(USH2A):c.9304C>T (p.Gln3102Ter) rs397518046 0.00001
NM_206933.4(USH2A):c.9469C>T (p.Gln3157Ter) rs772100045 0.00001
NM_206933.4(USH2A):c.99_100insT (p.Arg34fs) rs141672841 0.00001
NM_000017.4(ACADS):c.682_683del (p.Glu228fs) rs786204691
NM_000022.4(ADA):c.1021_1022del (p.Arg341fs) rs2065317387
NM_000022.4(ADA):c.201C>G (p.Tyr67Ter) rs1419063255
NM_000022.4(ADA):c.302G>A (p.Arg101Gln) rs121908714
NM_000022.4(ADA):c.33+1G>A rs587776534
NM_000022.4(ADA):c.366_367del (p.Asp123fs) rs758073965
NM_000022.4(ADA):c.367del (p.Asp123fs) rs758073965
NM_000022.4(ADA):c.396dup (p.Val133fs) rs1555844617
NM_000022.4(ADA):c.421G>T (p.Glu141Ter) rs1199690825
NM_000022.4(ADA):c.532dup (p.Val178fs) rs886041796
NM_000022.4(ADA):c.577dup (p.Leu193fs) rs759445496
NM_000022.4(ADA):c.645_648dup (p.Glu217fs) rs2065348171
NM_000022.4(ADA):c.690dup (p.Leu231fs) rs2065346614
NM_000022.4(ADA):c.705del (p.Leu236fs) rs1225623204
NM_000022.4(ADA):c.736C>T (p.Gln246Ter) rs1555844120
NM_000022.4(ADA):c.7C>T (p.Gln3Ter) rs1057520217
NM_000022.4(ADA):c.879_898del (p.Thr294fs) rs2065327187
NM_000022.4(ADA):c.95+1G>A rs778343059
NM_000022.4(ADA):c.956_960del (p.Glu319fs) rs771266745
NM_000022.4(ADA):c.970del (p.Arg324fs) rs2065325961
NM_000022.4(ADA):c.975+1G>A rs2065325898
NM_000023.4(SGCA):c.168del (p.Ala57fs) rs1555568264
NM_000023.4(SGCA):c.203del (p.Gly68fs) rs1567739228
NM_000023.4(SGCA):c.322_325dup (p.Asn109fs) rs1555568518
NM_000023.4(SGCA):c.348_352dup (p.Gln118fs) rs752640127
NM_000023.4(SGCA):c.391del (p.Leu131fs) rs144356125
NM_000023.4(SGCA):c.464del (p.Ser155fs) rs1555568775
NM_000023.4(SGCA):c.488dup (p.Leu164fs) rs763986788
NM_000023.4(SGCA):c.676C>T (p.Gln226Ter) rs1567741398
NM_000023.4(SGCA):c.747+1G>A rs886043392
NM_000023.4(SGCA):c.790_791dup (p.Gly265fs) rs1905254738
NM_000026.4(ADSL):c.1009C>T (p.Arg337Ter) rs761493155
NM_000033.4(ABCD1):c.1096A>T (p.Lys366Ter) rs1569541000
NM_000033.4(ABCD1):c.1201C>T (p.Arg401Trp) rs727503786
NM_000033.4(ABCD1):c.1202G>A (p.Arg401Gln) rs128624219
NM_000033.4(ABCD1):c.1288C>T (p.Gln430Ter) rs797044726
NM_000033.4(ABCD1):c.1359del (p.Gly454fs) rs1603234574
NM_000033.4(ABCD1):c.1390C>T (p.Arg464Ter) rs128624221
NM_000033.4(ABCD1):c.1396C>T (p.Gln466Ter) rs398123100
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.1552C>T (p.Arg518Trp) rs128624224
NM_000033.4(ABCD1):c.1661G>A (p.Arg554His) rs201568579
NM_000033.4(ABCD1):c.1679C>T (p.Pro560Leu) rs398123105
NM_000033.4(ABCD1):c.1772G>A (p.Arg591Gln) rs1557054873
NM_000033.4(ABCD1):c.1820_1823del (p.Gly607fs) rs1557055253
NM_000033.4(ABCD1):c.1825G>A (p.Glu609Lys) rs150346282
NM_000033.4(ABCD1):c.1850G>A (p.Arg617His) rs11146842
NM_000033.4(ABCD1):c.1895C>T (p.Thr632Ile) rs1064793877
NM_000033.4(ABCD1):c.1978C>T (p.Arg660Trp) rs1569541203
NM_000033.4(ABCD1):c.421G>A (p.Ala141Thr) rs193922097
NM_000033.4(ABCD1):c.498_520del (p.Val167fs) rs398123112
NM_000033.4(ABCD1):c.521A>G (p.Tyr174Cys) rs1557052390
NM_000033.4(ABCD1):c.529C>T (p.Gln177Ter) rs1057516052
NM_000033.4(ABCD1):c.593C>T (p.Thr198Met) rs1569540704
NM_000033.4(ABCD1):c.614C>A (p.Ala205Glu) rs398123113
NM_000033.4(ABCD1):c.796G>A (p.Gly266Arg) rs128624218
NM_000033.4(ABCD1):c.838C>T (p.Arg280Cys) rs193922098
NM_000033.4(ABCD1):c.887A>G (p.Tyr296Cys) rs797044610
NM_000049.4(ASPA):c.244dup (p.Met82fs) rs756198538
NM_000049.4(ASPA):c.340G>T (p.Asp114Tyr) rs1446467099
NM_000049.4(ASPA):c.437_449del (p.Ser146fs) rs2073669074
NM_000049.4(ASPA):c.502C>T (p.Arg168Cys) rs937670540
NM_000049.4(ASPA):c.541C>A (p.Pro181Thr) rs786204572
NM_000049.4(ASPA):c.654C>A (p.Cys218Ter) rs104894549
NM_000049.4(ASPA):c.693C>A (p.Tyr231Ter) rs12948217
NM_000049.4(ASPA):c.831del (p.Val278fs) rs1555541304
NM_000049.4(ASPA):c.876_879del (p.Glu293fs) rs766720790
NM_000051.4(ATM):c.1880dup (p.Gln628fs) rs786202474
NM_000051.4(ATM):c.7088del (p.Lys2363fs) rs876658512
NM_000053.4(ATP7B):c.1063C>T (p.Gln355Ter) rs778490238
NM_000053.4(ATP7B):c.1073del (p.Cys358fs) rs1951985366
NM_000053.4(ATP7B):c.1107_1108dup (p.Cys370fs) rs2140073366
NM_000053.4(ATP7B):c.111dup (p.Ala38fs) rs1555296939
NM_000053.4(ATP7B):c.1136del (p.Gly379fs) rs2140072323
NM_000053.4(ATP7B):c.1158_1159del (p.Val387fs) rs1593787789
NM_000053.4(ATP7B):c.1186G>T (p.Glu396Ter) rs763051801
NM_000053.4(ATP7B):c.122del (p.Asn41fs) rs2140114949
NM_000053.4(ATP7B):c.1242_1243del (p.Arg414fs) rs2140066737
NM_000053.4(ATP7B):c.1286-2A>G rs2139975409
NM_000053.4(ATP7B):c.1369C>T (p.Gln457Ter) rs1951795080
NM_000053.4(ATP7B):c.1531C>T (p.Gln511Ter) rs1449610384
NM_000053.4(ATP7B):c.1543+1G>T rs1360279134
NM_000053.4(ATP7B):c.1677C>A (p.Tyr559Ter) rs142187604
NM_000053.4(ATP7B):c.1708-1G>A rs137853280
NM_000053.4(ATP7B):c.1716del (p.Gly572_Met573insTer) rs1057516893
NM_000053.4(ATP7B):c.1739del (p.His580fs) rs1555293357
NM_000053.4(ATP7B):c.174dup (p.Thr59fs) rs1057516561
NM_000053.4(ATP7B):c.1813dup (p.Leu605fs) rs1951467428
NM_000053.4(ATP7B):c.1869+2T>C rs2139767694
NM_000053.4(ATP7B):c.1945C>T (p.Gln649Ter) rs1958765122
NM_000053.4(ATP7B):c.213_214del (p.Val73fs) rs1445951068
NM_000053.4(ATP7B):c.2145C>A (p.Tyr715Ter) rs751202110
NM_000053.4(ATP7B):c.2149C>T (p.Gln717Ter) rs1085307057
NM_000053.4(ATP7B):c.2157C>A (p.Tyr719Ter) rs1057516380
NM_000053.4(ATP7B):c.2157del (p.Ala718_Tyr719insTer) rs1958506321
NM_000053.4(ATP7B):c.2165dup (p.Arg723fs) rs768729972
NM_000053.4(ATP7B):c.2223T>A (p.Tyr741Ter) rs1958499640
NM_000053.4(ATP7B):c.2227del (p.Tyr743fs) rs1958499462
NM_000053.4(ATP7B):c.2233_2234del (p.Leu745fs) rs1555291195
NM_000053.4(ATP7B):c.2304del (p.Met769fs) rs137853287
NM_000053.4(ATP7B):c.2304dup (p.Met769fs) rs137853287
NM_000053.4(ATP7B):c.2332C>G (p.Arg778Gly) rs137853284
NM_000053.4(ATP7B):c.2333G>A (p.Arg778Gln) rs28942074
NM_000053.4(ATP7B):c.2356-2A>G rs2139505830
NM_000053.4(ATP7B):c.2426del (p.Gly809fs) rs1958433515
NM_000053.4(ATP7B):c.2447+1G>T rs1958431105
NM_000053.4(ATP7B):c.2510del (p.Gly837fs) rs964976261
NM_000053.4(ATP7B):c.2510dup (p.Phe839fs) rs964976261
NM_000053.4(ATP7B):c.2532del (p.Val845fs) rs755709270
NM_000053.4(ATP7B):c.2575+1G>A rs766149114
NM_000053.4(ATP7B):c.2589del (p.Val864fs) rs2139212032
NM_000053.4(ATP7B):c.2692C>T (p.Gln898Ter) rs1957898187
NM_000053.4(ATP7B):c.2781del (p.Phe927fs) rs1957877283
NM_000053.4(ATP7B):c.2795C>A (p.Ser932Ter) rs1566498495
NM_000053.4(ATP7B):c.2810del (p.Val937fs) rs1057516643
NM_000053.4(ATP7B):c.2826_2832del (p.Gly943fs) rs1555288385
NM_000053.4(ATP7B):c.283C>T (p.Gln95Ter) rs756929892
NM_000053.4(ATP7B):c.2866-2A>G rs1377418826
NM_000053.4(ATP7B):c.2866-2del rs1593681941
NM_000053.4(ATP7B):c.2952del (p.Cys985fs) rs1957660459
NM_000053.4(ATP7B):c.2953del (p.Cys985fs) rs1957660093
NM_000053.4(ATP7B):c.2997dup (p.Gly1000fs) rs1957654399
NM_000053.4(ATP7B):c.3008C>T (p.Ala1003Val) rs775055397
NM_000053.4(ATP7B):c.3071_3072del (p.Val1024fs) rs1957519682
NM_000053.4(ATP7B):c.3101dup (p.His1034fs) rs1681704644
NM_000053.4(ATP7B):c.3104G>T (p.Gly1035Val) rs753594031
NM_000053.4(ATP7B):c.3140del (p.Asp1047fs) rs2138953252
NM_000053.4(ATP7B):c.3147del (p.Thr1050fs) rs762031690
NM_000053.4(ATP7B):c.314C>A (p.Ser105Ter) rs753236073
NM_000053.4(ATP7B):c.3206A>G (p.His1069Arg) rs201738147
NM_000053.4(ATP7B):c.3237T>A (p.Cys1079Ter) rs1957506216
NM_000053.4(ATP7B):c.3244-2A>G rs786204584
NM_000053.4(ATP7B):c.3350_3353del (p.Glu1117fs) rs1555285830
NM_000053.4(ATP7B):c.3402del (p.Ala1135fs) rs137853281
NM_000053.4(ATP7B):c.3449del (p.Asn1150fs) rs1555285380
NM_000053.4(ATP7B):c.3472_3482del (p.Gly1158fs) rs1566461818
NM_000053.4(ATP7B):c.3529C>T (p.Gln1177Ter) rs1057516479
NM_000053.4(ATP7B):c.356dup (p.Met119fs) rs1952028475
NM_000053.4(ATP7B):c.3588dup (p.Ala1197fs) rs1957160342
NM_000053.4(ATP7B):c.3649_3654del (p.Val1217_Leu1218del) rs781266802
NM_000053.4(ATP7B):c.3664del (p.Asp1222fs) rs886042519
NM_000053.4(ATP7B):c.3766_3767dup (p.Gln1256fs) rs1957048711
NM_000053.4(ATP7B):c.379del (p.Glu127fs) rs2140103906
NM_000053.4(ATP7B):c.383del (p.Gly128fs) rs797045083
NM_000053.4(ATP7B):c.3843dup (p.Val1282fs) rs1957043255
NM_000053.4(ATP7B):c.3845dup (p.Ala1283fs) rs2138576515
NM_000053.4(ATP7B):c.388_389dup (p.Ala131fs) rs1057517384
NM_000053.4(ATP7B):c.3895C>T (p.Leu1299Phe) rs749472361
NM_000053.4(ATP7B):c.3895del (p.Ile1300fs) rs1957038706
NM_000053.4(ATP7B):c.3904-2A>G rs1057517233
NM_000053.4(ATP7B):c.3904-2del rs1957032734
NM_000053.4(ATP7B):c.3974del (p.Leu1325fs) rs1957027467
NM_000053.4(ATP7B):c.3990_3993del (p.Tyr1331fs) rs1566441447
NM_000053.4(ATP7B):c.4006del (p.Ile1336fs) rs1555283564
NM_000053.4(ATP7B):c.4051C>T (p.Gln1351Ter) rs786204578
NM_000053.4(ATP7B):c.4088C>T (p.Ser1363Phe) rs776848753
NM_000053.4(ATP7B):c.4092_4093del (p.Ser1365fs) rs771603301
NM_000053.4(ATP7B):c.4112T>C (p.Leu1371Pro) rs1444841250
NM_000053.4(ATP7B):c.4114C>T (p.Gln1372Ter) rs755584106
NM_000053.4(ATP7B):c.4125-1G>T rs1293549383
NM_000053.4(ATP7B):c.4144G>T (p.Glu1382Ter) rs2138414735
NM_000053.4(ATP7B):c.4195del (p.Gln1399fs) rs886041336
NM_000053.4(ATP7B):c.4283dup (p.Ser1429fs) rs1555282191
NM_000053.4(ATP7B):c.4374_4375del (p.Arg1459fs) rs2138386032
NM_000053.4(ATP7B):c.524_525del (p.Lys175fs) rs558037268
NM_000053.4(ATP7B):c.525dup (p.Val176fs) rs558037268
NM_000053.4(ATP7B):c.52dup (p.Ile18fs) rs2140117236
NM_000053.4(ATP7B):c.560_561del (p.Tyr187fs) rs2140096946
NM_000053.4(ATP7B):c.778dup (p.Gln260fs) rs786204570
NM_000053.4(ATP7B):c.804dup (p.Lys269Ter) rs1952004098
NM_000053.4(ATP7B):c.813C>A (p.Cys271Ter) rs572147914
NM_000053.4(ATP7B):c.845del (p.Leu282fs) rs193922111
NM_000053.4(ATP7B):c.856C>T (p.Gln286Ter) rs1183423966
NM_000053.4(ATP7B):c.915T>A (p.Cys305Ter) rs398123137
NM_000053.4(ATP7B):c.92dup (p.Ala32fs) rs1952043099
NM_000053.4(ATP7B):c.956del (p.Pro319fs) rs753674382
NM_000053.4(ATP7B):c.970A>T (p.Lys324Ter) rs911589273
NM_000053.4(ATP7B):c.994G>T (p.Glu332Ter) rs761084829
NM_000069.3(CACNA1S):c.3715C>G (p.Arg1239Gly) rs28930069
NM_000069.3(CACNA1S):c.3716G>A (p.Arg1239His) rs28930068
NM_000070.3(CAPN3):c.801+1G>A rs1459288402
NM_000098.3(CPT2):c.1239_1240del (p.Lys414fs) rs397509431
NM_000098.3(CPT2):c.1324dup (p.Thr442fs) rs1131691330
NM_000098.3(CPT2):c.1932dup (p.Glu645fs) rs1645445189
NM_000098.3(CPT2):c.202C>T (p.Gln68Ter) rs771406546
NM_000098.3(CPT2):c.451C>T (p.Arg151Trp) rs200080591
NM_000101.4(CYBA):c.171del (p.Lys58fs) rs763678131
NM_000110.4(DPYD):c.299_302del (p.Phe100fs) rs72549309
NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro) rs421016
NM_000169.3(GLA):c.1019_1020insA (p.Trp340Ter) rs398123197
NM_000169.3(GLA):c.101A>G (p.Asn34Ser) rs104894835
NM_000169.3(GLA):c.1020G>A (p.Trp340Ter) rs104894842
NM_000169.3(GLA):c.1023del (p.Glu341fs) rs886044909
NM_000169.3(GLA):c.1024C>T (p.Arg342Ter) rs104894843
NM_000169.3(GLA):c.1033_1034del (p.Ser345fs) rs398123198
NM_000169.3(GLA):c.1057_1058del (p.Met353fs) rs886044829
NM_000169.3(GLA):c.1066C>T (p.Arg356Trp) rs104894827
NM_000169.3(GLA):c.1072G>A (p.Glu358Lys) rs797044774
NM_000169.3(GLA):c.1072_1074del (p.Glu358del) rs730880453
NM_000169.3(GLA):c.1118G>A (p.Gly373Asp) rs869312227
NM_000169.3(GLA):c.1125_1140del (p.Val376fs) rs876661347
NM_000169.3(GLA):c.1188del (p.Tyr397fs) rs879253955
NM_000169.3(GLA):c.118C>T (p.Pro40Ser) rs104894831
NM_000169.3(GLA):c.1235_1236del (p.Thr412fs) rs797044777
NM_000169.3(GLA):c.124A>G (p.Met42Val) rs797044613
NM_000169.3(GLA):c.125T>C (p.Met42Thr) rs398123201
NM_000169.3(GLA):c.128del (p.Gly43fs) rs797044500
NM_000169.3(GLA):c.154T>C (p.Cys52Arg) rs1057521047
NM_000169.3(GLA):c.195-1G>T rs398123206
NM_000169.3(GLA):c.242G>A (p.Trp81Ter) rs398123208
NM_000169.3(GLA):c.26del (p.His9fs) rs1555987215
NM_000169.3(GLA):c.272T>C (p.Ile91Thr) rs869312141
NM_000169.3(GLA):c.290C>T (p.Ala97Val) rs1569304867
NM_000169.3(GLA):c.295del (p.Gln99fs) rs886039136
NM_000169.3(GLA):c.295dup (p.Gln99fs) rs886039136
NM_000169.3(GLA):c.2T>C (p.Met1Thr) rs1555987232
NM_000169.3(GLA):c.334C>T (p.Arg112Cys) rs104894834
NM_000169.3(GLA):c.337T>C (p.Phe113Leu) rs869312142
NM_000169.3(GLA):c.369+1G>A rs797044669
NM_000169.3(GLA):c.379A>T (p.Lys127Ter) rs2147477845
NM_000169.3(GLA):c.404C>T (p.Ala135Val) rs1569304221
NM_000169.3(GLA):c.413G>A (p.Gly138Glu) rs1928326107
NM_000169.3(GLA):c.422C>T (p.Thr141Ile) rs886044843
NM_000169.3(GLA):c.456C>A (p.Tyr152Ter) rs1555985827
NM_000169.3(GLA):c.469C>T (p.Gln157Ter) rs797044702
NM_000169.3(GLA):c.485G>A (p.Trp162Ter) rs727504350
NM_000169.3(GLA):c.547G>A (p.Gly183Ser) rs869312324
NM_000169.3(GLA):c.59_72dup (p.Asp25fs) rs1555987175
NM_000169.3(GLA):c.622_623del (p.Met208fs) rs1064796601
NM_000169.3(GLA):c.640-1G>A rs398123216
NM_000169.3(GLA):c.647A>G (p.Tyr216Cys) rs398123217
NM_000169.3(GLA):c.658C>T (p.Arg220Ter) rs727503949
NM_000169.3(GLA):c.661C>T (p.Gln221Ter) rs797044747
NM_000169.3(GLA):c.666C>A (p.Tyr222Ter) rs104894851
NM_000169.3(GLA):c.680G>A (p.Arg227Gln) rs104894840
NM_000169.3(GLA):c.707G>A (p.Trp236Ter) rs879254022
NM_000169.3(GLA):c.713G>A (p.Ser238Asn) rs730880450
NM_000169.3(GLA):c.718_719del (p.Lys240fs) rs869312389
NM_000169.3(GLA):c.734G>A (p.Trp245Ter) rs398123220
NM_000169.3(GLA):c.735G>A (p.Trp245Ter) rs1060500747
NM_000169.3(GLA):c.748C>T (p.Gln250Ter) rs398123221
NM_000169.3(GLA):c.776C>G (p.Pro259Arg) rs869312399
NM_000169.3(GLA):c.777del (p.Gly261fs) rs1569303213
NM_000169.3(GLA):c.791A>T (p.Asp264Val) rs28935486
NM_000169.3(GLA):c.797A>T (p.Asp266Val) rs28935487
NM_000169.3(GLA):c.801+3A>G rs797044748
NM_000169.3(GLA):c.801G>A (p.Met267Ile) rs730880451
NM_000169.3(GLA):c.802-3_802-2del rs797044498
NM_000169.3(GLA):c.80del (p.Pro27fs) rs730880454
NM_000169.3(GLA):c.824_825del (p.Leu275fs) rs1928173731
NM_000169.3(GLA):c.826A>G (p.Ser276Gly) rs869312432
NM_000169.3(GLA):c.830G>A (p.Trp277Ter) rs886044766
NM_000169.3(GLA):c.847C>T (p.Gln283Ter) rs730880452
NM_000169.3(GLA):c.848dup (p.Met284fs) rs1555985002
NM_000169.3(GLA):c.899T>C (p.Leu300Pro) rs398123223
NM_000169.3(GLA):c.901C>G (p.Arg301Gly) rs398123224
NM_000169.3(GLA):c.901C>T (p.Arg301Ter) rs398123224
NM_000169.3(GLA):c.902G>A (p.Arg301Gln) rs104894828
NM_000169.3(GLA):c.959_962del (p.Asn320fs) rs398123225
NM_000169.3(GLA):c.966C>A (p.Asp322Glu) rs398123226
NM_000169.3(GLA):c.974G>A (p.Gly325Asp) rs398123228
NM_000169.3(GLA):c.996_999del (p.Gln333fs) rs398123229
NM_000186.4(CFH):c.3572C>T (p.Ser1191Leu) rs460897
NM_000191.3(HMGCL):c.206_207del (p.Ser69fs) rs752137615
NM_000191.3(HMGCL):c.286C>T (p.Gln96Ter) rs890995574
NM_000191.3(HMGCL):c.505_506del (p.Ser169fs) rs764264834
NM_000191.3(HMGCL):c.876+1G>C rs779802353
NM_000191.3(HMGCL):c.914_915del (p.Phe305fs) rs786205431
NM_000195.5(HPS1):c.972del (p.Met325fs) rs281865082
NM_000198.4(HSD3B2):c.9G>A (p.Trp3Ter) rs765335418
NM_000199.5(SGSH):c.1027dup (p.Leu343fs) rs778700037
NM_000199.5(SGSH):c.1080del (p.Val361fs) rs770947426
NM_000199.5(SGSH):c.1272_1282del (p.Tyr424_Arg428delinsTer) rs752914124
NM_000199.5(SGSH):c.673T>C (p.Phe225Leu) rs1057521801
NM_000202.8(IDS):c.1006+1G>A rs869025308
NM_000202.8(IDS):c.1122C>T (p.Gly374=) rs113993948
NM_000202.8(IDS):c.1327C>T (p.Arg443Ter) rs199422227
NM_000202.8(IDS):c.1393C>T (p.Gln465Ter) rs864622772
NM_000202.8(IDS):c.1402C>T (p.Arg468Trp) rs199422231
NM_000202.8(IDS):c.1497T>G (p.Tyr499Ter) rs2089304408
NM_000202.8(IDS):c.1505G>A (p.Trp502Ter) rs199422228
NM_000202.8(IDS):c.1561G>A (p.Glu521Lys) rs2124648301
NM_000202.8(IDS):c.1591C>T (p.Gln531Ter) rs886044837
NM_000202.8(IDS):c.181T>C (p.Ser61Pro) rs113993955
NM_000202.8(IDS):c.238C>T (p.Gln80Ter) rs1569560527
NM_000202.8(IDS):c.253G>A (p.Ala85Thr) rs113993949
NM_000202.8(IDS):c.257C>G (p.Pro86Arg) rs1557340280
NM_000202.8(IDS):c.262C>T (p.Arg88Cys) rs398123249
NM_000202.8(IDS):c.263G>A (p.Arg88His) rs2089497431
NM_000202.8(IDS):c.419-1G>A rs1557339927
NM_000202.8(IDS):c.508-1G>A rs113993947
NM_000202.8(IDS):c.514C>T (p.Arg172Ter) rs104894860
NM_000202.8(IDS):c.998C>T (p.Ser333Leu) rs104894853
NM_000243.3(MEFV):c.2040G>C (p.Met680Ile) rs28940580
NM_000255.4(MMUT):c.160A>T (p.Lys54Ter) rs1554161054
NM_000267.3(NF1):c.1393_1394delAG rs1597698310
NM_000267.3(NF1):c.206_207delGA rs1060500321
NM_000267.3(NF1):c.5206delG rs1555533549
NM_000267.3(NF1):c.6791dup (p.Tyr2264Ter) rs876657715
NM_000268.4(NF2):c.1021C>T (p.Arg341Ter) rs74315499
NM_000268.4(NF2):c.122G>A (p.Trp41Ter) rs1555986860
NM_000268.4(NF2):c.1346_1347del (p.Lys449fs) rs1556001351
NM_000268.4(NF2):c.1396C>T (p.Arg466Ter) rs74315504
NM_000268.4(NF2):c.169C>T (p.Arg57Ter) rs121434259
NM_000268.4(NF2):c.517-1G>A rs1064796632
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.658A>T (p.Asn220Tyr) rs1601618646
NM_000275.3(OCA2):c.2177_2181del (p.Val726fs) rs771620099
NM_000275.3(OCA2):c.819_822delinsGGTC (p.Asn273_Trp274delinsLysVal) rs797044784
NM_000277.3(PAH):c.1339G>A (p.Ala447Thr) rs1192400891
NM_000277.3(PAH):c.529G>A (p.Val177Met) rs199475602
NM_000277.3(PAH):c.931_932del (p.Leu311fs) rs281865430
NM_000317.3(PTS):c.118_121del (p.Phe40fs) rs747260038
NM_000317.3(PTS):c.166G>A (p.Val56Met) rs104894277
NM_000317.3(PTS):c.259C>T (p.Pro87Ser) rs104894276
NM_000317.3(PTS):c.393del (p.Val132fs) rs780332520
NM_000329.3(RPE65):c.1067del (p.Asn356fs) rs281865520
NM_000330.4(RS1):c.579del (p.Ile194fs) rs199469697
NM_000337.6(SGCD):c.97C>T (p.Arg33Ter) rs778760498
NM_000350.3(ABCA4):c.1749_1750del (p.Lys583fs) rs2101079015
NM_000350.3(ABCA4):c.4128+1G>A rs2101036750
NM_000359.3(TGM1):c.1074C>G (p.Ser358Arg) rs779287673
NM_000359.3(TGM1):c.1166G>A (p.Arg389His) rs121918723
NM_000359.3(TGM1):c.1264A>T (p.Lys422Ter) rs563305936
NM_000359.3(TGM1):c.131G>A (p.Trp44Ter) rs1566381457
NM_000359.3(TGM1):c.398_407dup (p.Tyr136Ter) rs1057517836
NM_000359.3(TGM1):c.566dup (p.Ser190fs) rs1211601030
NM_000359.3(TGM1):c.944G>A (p.Arg315His) rs143473912
NM_000368.5(TSC1):c.107-1G>A rs1064793494
NM_000368.5(TSC1):c.1237del (p.Gln413fs) rs1588321344
NM_000368.5(TSC1):c.1257del (p.Arg420fs) rs118203506
NM_000368.5(TSC1):c.1431_1434del (p.Glu478fs) rs118203527
NM_000368.5(TSC1):c.1498C>T (p.Arg500Ter) rs118203537
NM_000368.5(TSC1):c.1525C>T (p.Arg509Ter) rs118203542
NM_000368.5(TSC1):c.1579C>T (p.Gln527Ter) rs118203549
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.1715_1722dup (p.Ser575fs) rs1588309702
NM_000368.5(TSC1):c.1888_1891del (p.Lys630fs)
NM_000368.5(TSC1):c.1904_1905del (p.Thr635fs) rs118203597
NM_000368.5(TSC1):c.1907_1908del (p.Glu636fs) rs118203599
NM_000368.5(TSC1):c.1959dup (p.Gln654fs) rs118203603
NM_000368.5(TSC1):c.1960C>T (p.Gln654Ter) rs75820036
NM_000368.5(TSC1):c.1987G>T (p.Glu663Ter) rs886041538
NM_000368.5(TSC1):c.2027G>A (p.Trp676Ter) rs1554815454
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.2111_2112del (p.Leu703_Tyr704insTer) rs118203645
NM_000368.5(TSC1):c.2145del (p.Asn716fs) rs118203650
NM_000368.5(TSC1):c.2208+2T>A rs1064794132
NM_000368.5(TSC1):c.2215C>T (p.Gln739Ter) rs1554815054
NM_000368.5(TSC1):c.2227C>T (p.Gln743Ter) rs118203661
NM_000368.5(TSC1):c.2272C>T (p.Gln758Ter) rs397514783
NM_000368.5(TSC1):c.2293C>T (p.Gln765Ter) rs118203673
NM_000368.5(TSC1):c.2356C>T (p.Arg786Ter) rs118203682
NM_000368.5(TSC1):c.2389C>T (p.Gln797Ter) rs397514862
NM_000368.5(TSC1):c.2507C>G (p.Ser836Ter) rs118203706
NM_000368.5(TSC1):c.2509_2512del (p.Asn837fs) rs118203707
NM_000368.5(TSC1):c.2515_2518del (p.Glu839fs) rs794727320
NM_000368.5(TSC1):c.2524C>T (p.Gln842Ter) rs1447417010
NM_000368.5(TSC1):c.261dup (p.Ser88fs) rs1588355628
NM_000368.5(TSC1):c.2672dup (p.Asn891fs) rs118203724
NM_000368.5(TSC1):c.2689C>T (p.Gln897Ter) rs118203727
NM_000368.5(TSC1):c.2692C>T (p.Gln898Ter) rs118203728
NM_000368.5(TSC1):c.2716C>T (p.Gln906Ter) rs118203732
NM_000368.5(TSC1):c.271_272del (p.Ser91fs) rs118203360
NM_000368.5(TSC1):c.2806C>T (p.Gln936Ter) rs118203735
NM_000368.5(TSC1):c.2818C>T (p.Gln940Ter) rs1588290078
NM_000368.5(TSC1):c.492G>A (p.Trp164Ter) rs1554819870
NM_000368.5(TSC1):c.647_648del (p.Thr215_Phe216insTer) rs118203417
NM_000368.5(TSC1):c.648del (p.Phe216fs) rs118203417
NM_000368.5(TSC1):c.663+1G>A rs118203419
NM_000368.5(TSC1):c.664-1G>A 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.738-2A>T rs118203440
NM_000368.5(TSC1):c.772G>T (p.Glu258Ter) rs118203450
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.982C>T (p.Gln328Ter) rs1554817388
NM_000368.5(TSC1):c.989_990del (p.Leu330fs) rs118203479
NM_000368.5(TSC1):c.989dup (p.Ser331fs) rs118203478
NM_000372.5(TYR):c.1185-2A>G rs1289685376
NM_000372.5(TYR):c.1267del (p.Glu423fs) rs1565423674
NM_000372.5(TYR):c.1342G>A (p.Asp448Asn) rs104894318
NM_000372.5(TYR):c.1456del (p.Ala486fs) rs1590909462
NM_000372.5(TYR):c.286dup (p.Met96fs) rs61753190
NM_000372.5(TYR):c.338_339del (p.Thr113fs) rs61753254
NM_000372.5(TYR):c.387_389delinsGG (p.Glu130fs) rs1565386582
NM_000372.5(TYR):c.391_393del (p.Lys131del) rs1413017181
NM_000372.5(TYR):c.572del (p.Gly191fs) rs61754361
NM_000372.5(TYR):c.655G>A (p.Glu219Lys) rs747995722
NM_000372.5(TYR):c.714G>A (p.Trp238Ter) rs1565386964
NM_000372.5(TYR):c.732_733del (p.Cys244_Asp245delinsTer) rs61754368
NM_000372.5(TYR):c.753C>A (p.Tyr251Ter) rs765329261
NM_000372.5(TYR):c.895C>A (p.Arg299Ser) rs61754374
NM_000372.5(TYR):c.929dup (p.Arg311fs) rs281865527
NM_000372.5(TYR):c.976C>T (p.Gln326Ter) rs540911439
NM_000396.4(CTSK):c.158dup (p.Asn53fs) rs764168526
NM_000441.2(SLC26A4):c.1001+1G>T rs80338849
NM_000441.2(SLC26A4):c.1001G>T (p.Gly334Val) rs146281367
NM_000441.2(SLC26A4):c.1174A>T (p.Asn392Tyr) rs201562855
NM_000441.2(SLC26A4):c.1198del (p.Cys400fs) rs397516413
NM_000441.2(SLC26A4):c.164+2T>C rs397516420
NM_000441.2(SLC26A4):c.1651dup (p.Ser551fs) rs1554360678
NM_000441.2(SLC26A4):c.1692dup (p.Cys565fs) rs746427774
NM_000441.2(SLC26A4):c.2027T>A (p.Leu676Gln) rs111033318
NM_000441.2(SLC26A4):c.2118C>A (p.Cys706Ter) rs142656144
NM_000441.2(SLC26A4):c.2167C>G (p.His723Asp) rs1417146153
NM_000441.2(SLC26A4):c.2224del (p.Ile742fs) rs876657723
NM_000441.2(SLC26A4):c.2228T>A (p.Leu743Ter) rs1057517303
NM_000441.2(SLC26A4):c.235C>T (p.Arg79Ter) rs786204581
NM_000441.2(SLC26A4):c.249G>A (p.Trp83Ter) rs1057516658
NM_000441.2(SLC26A4):c.589G>A (p.Gly197Arg) rs111033380
NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp) rs111033256
NM_000441.2(SLC26A4):c.85G>T (p.Glu29Ter) rs111033205
NM_000441.2(SLC26A4):c.918+1G>T rs111033245
NM_000441.2(SLC26A4):c.946G>T (p.Gly316Ter) rs1554357231
NM_000455.5(STK11):c.109C>T (p.Gln37Ter) rs121913324
NM_000455.5(STK11):c.180C>A (p.Tyr60Ter) rs778376925
NM_000455.5(STK11):c.180C>G (p.Tyr60Ter) rs778376925
NM_000455.5(STK11):c.180del (p.Ser59_Tyr60insTer) rs1555735008
NM_000455.5(STK11):c.199del (p.Leu67fs) rs1555735014
NM_000455.5(STK11):c.250A>T (p.Lys84Ter) rs137853076
NM_000455.5(STK11):c.291-2A>G rs876658584
NM_000455.5(STK11):c.374+1A>G rs1131690951
NM_000455.5(STK11):c.402_403del (p.Cys134fs) rs587782424
NM_000455.5(STK11):c.468C>G (p.Tyr156Ter) rs786201349
NM_000455.5(STK11):c.526G>A (p.Asp176Asn) rs730881979
NM_000455.5(STK11):c.597+1G>T rs886039554
NM_000455.5(STK11):c.598-2A>G rs1131690934
NM_000455.5(STK11):c.630C>A (p.Cys210Ter) rs786201213
NM_000455.5(STK11):c.640C>T (p.Gln214Ter) rs1131690923
NM_000455.5(STK11):c.658C>T (p.Gln220Ter) rs1131690940
NM_000455.5(STK11):c.717G>A (p.Trp239Ter) rs137853082
NM_000455.5(STK11):c.727del (p.Val243fs) rs1555738475
NM_000455.5(STK11):c.734+1G>A rs587782018
NM_000455.5(STK11):c.735-1G>A rs1057517830
NM_000455.5(STK11):c.790_793del (p.Phe264fs) rs121913320
NM_000455.5(STK11):c.842del (p.Pro281fs) rs121913321
NM_000455.5(STK11):c.842dup (p.Leu282fs) rs121913321
NM_000455.5(STK11):c.843dup (p.Leu282fs) rs1131690949
NM_000455.5(STK11):c.862+1G>T rs1131690921
NM_000455.5(STK11):c.890G>A (p.Arg297Lys) rs1568710381
NM_000455.5(STK11):c.910C>T (p.Arg304Trp) rs786201090
NM_000455.5(STK11):c.913C>T (p.Gln305Ter) rs1131690945
NM_000455.5(STK11):c.920+1G>A rs1131690920
NM_000487.6(ARSA):c.488G>C (p.Cys163Ser) rs1430695346
NM_000492.3(CFTR):c.1210-12T[5] rs1805177
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) rs113993960
NM_000492.4(CFTR):c.1211del rs1235397597
NM_000492.4(CFTR):c.1911del (p.Gln637fs) rs1554389296
NM_000492.4(CFTR):c.274G>A (p.Glu92Lys) rs121908751
NM_000492.4(CFTR):c.328G>C (p.Asp110His) rs113993958
NM_000492.4(CFTR):c.349C>T (p.Arg117Cys) rs77834169
NM_000492.4(CFTR):c.350G>A (p.Arg117His) rs78655421
NM_000492.4(CFTR):c.4231C>T (p.Gln1411Ter) rs397508701
NM_000512.5(GALNS):c.1000C>T (p.Gln334Ter) rs1567526805
NM_000512.5(GALNS):c.1139+1G>A rs765608680
NM_000512.5(GALNS):c.1192del (p.His398fs) rs1910636198
NM_000512.5(GALNS):c.120+1G>C rs911877265
NM_000512.5(GALNS):c.121-2A>G rs1567538216
NM_000512.5(GALNS):c.1364+1G>A rs773746427
NM_000512.5(GALNS):c.346G>A (p.Gly116Ser) rs1444754604
NM_000512.5(GALNS):c.405_422+1del rs398123437
NM_000512.5(GALNS):c.489del (p.Asn164fs) rs1328983959
NM_000512.5(GALNS):c.604del (p.Glu202fs) rs1382823339
NM_000512.5(GALNS):c.689G>A (p.Trp230Ter) rs118204449
NM_000512.5(GALNS):c.751C>T (p.Arg251Ter) rs1275386976
NM_000518.5(HBB):c.112del (p.Trp38fs) rs63750532
NM_000518.5(HBB):c.135del (p.Phe46fs) rs80356820
NM_000518.5(HBB):c.17_18del (p.Pro6fs) rs34889882
NM_000518.5(HBB):c.27dup (p.Ser10fs) rs35699606
NM_000518.5(HBB):c.47G>A (p.Trp16Ter) rs63750783
NM_000528.4(MAN2B1):c.1048dup (p.His350fs) rs2145262260
NM_000528.4(MAN2B1):c.1081del (p.Trp361fs) rs2145261994
NM_000528.4(MAN2B1):c.1109G>A (p.Trp370Ter) rs786204715
NM_000528.4(MAN2B1):c.1203C>G (p.Tyr401Ter) rs781291011
NM_000528.4(MAN2B1):c.1223del (p.Phe408fs) rs2024020274
NM_000528.4(MAN2B1):c.1228C>T (p.Gln410Ter) rs2024019978
NM_000528.4(MAN2B1):c.1280_1296del (p.Pro427fs) rs1057517408
NM_000528.4(MAN2B1):c.1383C>A (p.Tyr461Ter) rs775200333
NM_000528.4(MAN2B1):c.1383C>G (p.Tyr461Ter) rs775200333
NM_000528.4(MAN2B1):c.1388_1389del (p.Arg463fs) rs771647137
NM_000528.4(MAN2B1):c.1404dup (p.Trp469fs) rs1599350640
NM_000528.4(MAN2B1):c.1534del (p.Val512fs) rs2023968643
NM_000528.4(MAN2B1):c.1664C>G (p.Ser555Ter) rs376719984
NM_000528.4(MAN2B1):c.1928G>A (p.Trp643Ter) rs1599344532
NM_000528.4(MAN2B1):c.1929G>A (p.Trp643Ter) rs398123455
NM_000528.4(MAN2B1):c.1954G>T (p.Glu652Ter) rs756680048
NM_000528.4(MAN2B1):c.1963C>T (p.Gln655Ter) rs2023854692
NM_000528.4(MAN2B1):c.2165+1G>A rs80338679
NM_000528.4(MAN2B1):c.2175G>A (p.Trp725Ter) rs1392422167
NM_000528.4(MAN2B1):c.2212del (p.Glu738fs) rs1555706706
NM_000528.4(MAN2B1):c.2248C>T (p.Arg750Trp) rs80338680
NM_000528.4(MAN2B1):c.2272del (p.Asp758fs) rs2023782686
NM_000528.4(MAN2B1):c.2356-2A>G rs1064793936
NM_000528.4(MAN2B1):c.2402dup (p.Ser802fs) rs797044680
NM_000528.4(MAN2B1):c.2414_2417del (p.Arg805fs) rs1347035611
NM_000528.4(MAN2B1):c.2437-2A>G rs1445197546
NM_000528.4(MAN2B1):c.247C>T (p.Gln83Ter) rs2024217737
NM_000528.4(MAN2B1):c.2534_2558del (p.Leu845fs) rs2145225250
NM_000528.4(MAN2B1):c.2559_2575del (p.Ala854fs) rs2023745479
NM_000528.4(MAN2B1):c.2669C>G (p.Ser890Ter) rs1406466561
NM_000528.4(MAN2B1):c.2696C>A (p.Ser899Ter) rs767323371
NM_000528.4(MAN2B1):c.2748_2751del (p.Leu917fs) rs2145221516
NM_000528.4(MAN2B1):c.2802dup (p.Val935fs) rs1057516864
NM_000528.4(MAN2B1):c.2864_2879del (p.Thr955fs) rs1599337939
NM_000528.4(MAN2B1):c.2887G>T (p.Glu963Ter) rs757072948
NM_000528.4(MAN2B1):c.384G>A (p.Trp128Ter) rs1555709972
NM_000528.4(MAN2B1):c.388C>T (p.Gln130Ter) rs1366682636
NM_000528.4(MAN2B1):c.418C>T (p.Arg140Ter) rs370803545
NM_000528.4(MAN2B1):c.426del (p.Val143fs) rs2024205685
NM_000528.4(MAN2B1):c.783C>A (p.Tyr261Ter) rs2024155693
NM_000528.4(MAN2B1):c.896dup (p.Ala300fs) rs2024151949
NM_000529.2(MC2R):c.560del (p.Val187fs) rs1555619406
NM_000531.6(OTC):c.119G>A (p.Arg40His) rs72554308
NM_000531.6(OTC):c.205C>T (p.Gln69Ter) rs72554326
NM_000531.6(OTC):c.275G>A (p.Arg92Gln) rs66550389
NM_000531.6(OTC):c.298+2T>G rs1555972538
NM_000531.6(OTC):c.386G>A (p.Arg129His) rs66656800
NM_000531.6(OTC):c.422G>A (p.Arg141Gln) rs68026851
NM_000531.6(OTC):c.482A>G (p.Asn161Ser) rs72556271
NM_000531.6(OTC):c.533C>T (p.Thr178Met) rs72556284
NM_000531.6(OTC):c.583G>A (p.Gly195Arg) rs67294955
NM_000531.6(OTC):c.596A>G (p.Asn199Ser) rs72558406
NM_000531.6(OTC):c.622G>A (p.Ala208Thr) rs72558416
NM_000531.6(OTC):c.626C>T (p.Ala209Val) rs72558417
NM_000531.6(OTC):c.663+1G>T rs68170503
NM_000531.6(OTC):c.674C>T (p.Pro225Leu) rs67120076
NM_000531.6(OTC):c.77G>A (p.Arg26Gln) rs68031618
NM_000531.6(OTC):c.829C>T (p.Arg277Trp) rs72558454
NM_000531.6(OTC):c.830G>A (p.Arg277Gln) rs66724222
NM_000531.6(OTC):c.944T>A (p.Val315Asp) rs67414444
NM_000531.6(OTC):c.958C>T (p.Arg320Ter) rs72558473
NM_000546.6(TP53):c.1024C>T (p.Arg342Ter) rs730882029
NM_000546.6(TP53):c.1024del (p.Arg342fs) rs1131691022
NM_000546.6(TP53):c.154C>T (p.Gln52Ter) rs2151042795
NM_000546.6(TP53):c.158G>A (p.Trp53Ter) rs876658483
NM_000546.6(TP53):c.159G>A (p.Trp53Ter) rs1064794618
NM_000546.6(TP53):c.202G>T (p.Glu68Ter) rs869312782
NM_000546.6(TP53):c.216del (p.Val73fs) rs730882018
NM_000546.6(TP53):c.216dup (p.Val73fs) rs730882018
NM_000546.6(TP53):c.254del (p.Pro85fs) rs1064793279
NM_000546.6(TP53):c.257_279del (p.Ala86fs) rs886041861
NM_000546.6(TP53):c.271dup (p.Trp91fs) rs1597374152
NM_000546.6(TP53):c.273G>A (p.Trp91Ter) rs876660548
NM_000546.6(TP53):c.294_297del (p.Ser99fs) rs730882015
NM_000546.6(TP53):c.309C>G (p.Tyr103Ter) rs1597373901
NM_000546.6(TP53):c.323_329dup (p.Leu111fs) rs1131691004
NM_000546.6(TP53):c.328del (p.Arg110fs) rs587780066
NM_000546.6(TP53):c.329G>C (p.Arg110Pro) rs11540654
NM_000546.6(TP53):c.331_365dup (p.Thr123fs) rs1597373467
NM_000546.6(TP53):c.365_366del (p.Val122fs) rs587780067
NM_000546.6(TP53):c.383del (p.Pro128fs) rs1597371666
NM_000546.6(TP53):c.390_426del (p.Asn131fs) rs1597371154
NM_000546.6(TP53):c.392A>T (p.Asn131Ile) rs1131691037
NM_000546.6(TP53):c.398T>C (p.Met133Thr) rs28934873
NM_000546.6(TP53):c.422G>A (p.Cys141Tyr) rs587781288
NM_000546.6(TP53):c.437G>A (p.Trp146Ter) rs1206165503
NM_000546.6(TP53):c.438G>A (p.Trp146Ter) rs1131691026
NM_000546.6(TP53):c.454_466del (p.Pro152fs) rs876659215
NM_000546.6(TP53):c.455dup (p.Pro153fs) rs730882019
NM_000546.6(TP53):c.473G>T (p.Arg158Leu) rs587782144
NM_000546.6(TP53):c.493C>T (p.Gln165Ter) rs730882001
NM_000546.6(TP53):c.509_512del (p.Thr170fs) rs1555526082
NM_000546.6(TP53):c.523C>G (p.Arg175Gly) rs138729528
NM_000546.6(TP53):c.527G>A (p.Cys176Tyr) rs786202962
NM_000546.6(TP53):c.52del (p.Thr18fs) rs876658627
NM_000546.6(TP53):c.532del (p.His178fs) rs786202525
NM_000546.6(TP53):c.560-2A>C rs1427441061
NM_000546.6(TP53):c.563del (p.Leu188fs) rs1597368970
NM_000546.6(TP53):c.574C>T (p.Gln192Ter) rs866380588
NM_000546.6(TP53):c.584T>C (p.Ile195Thr) rs760043106
NM_000546.6(TP53):c.586C>T (p.Arg196Ter) rs397516435
NM_000546.6(TP53):c.626_627del (p.Arg209fs) rs1057517840
NM_000546.6(TP53):c.637C>T (p.Arg213Ter) rs397516436
NM_000546.6(TP53):c.638G>A (p.Arg213Gln) rs587778720
NM_000546.6(TP53):c.642_643del (p.His214fs) rs1597368095
NM_000546.6(TP53):c.645del (p.Ser215fs) rs2151026447
NM_000546.6(TP53):c.651_666del (p.Val218fs) rs786202315
NM_000546.6(TP53):c.662del (p.Glu221fs) rs878854071
NM_000546.6(TP53):c.672+1G>A rs863224499
NM_000546.6(TP53):c.673-1G>A rs878854073
NM_000546.6(TP53):c.673-2A>G rs1555525585
NM_000546.6(TP53):c.700T>C (p.Tyr234His) rs864622237
NM_000546.6(TP53):c.712T>C (p.Cys238Arg) rs1057519981
NM_000546.6(TP53):c.722C>A (p.Ser241Tyr) rs28934573
NM_000546.6(TP53):c.730G>A (p.Gly244Ser) rs1057519989
NM_000546.6(TP53):c.731G>A (p.Gly244Asp) rs985033810
NM_000546.6(TP53):c.733G>T (p.Gly245Cys) rs28934575
NM_000546.6(TP53):c.734G>T (p.Gly245Val) rs121912656
NM_000546.6(TP53):c.736A>G (p.Met246Val) rs483352695
NM_000546.6(TP53):c.772G>T (p.Glu258Ter) rs121912652
NM_000546.6(TP53):c.785del (p.Gly262fs) rs879253905
NM_000546.6(TP53):c.790del (p.Leu264fs) rs1060501194
NM_000546.6(TP53):c.796G>A (p.Gly266Arg) rs1057519990
NM_000546.6(TP53):c.796G>C (p.Gly266Arg) rs1057519990
NM_000546.6(TP53):c.801dup (p.Asn268fs) rs1597362206
NM_000546.6(TP53):c.817C>A (p.Arg273Ser) rs121913343
NM_000546.6(TP53):c.817C>G (p.Arg273Gly) rs121913343
NM_000546.6(TP53):c.818G>C (p.Arg273Pro) rs28934576
NM_000546.6(TP53):c.818G>T (p.Arg273Leu) rs28934576
NM_000546.6(TP53):c.842A>G (p.Asp281Gly) rs587781525
NM_000546.6(TP53):c.844C>G (p.Arg282Gly) rs28934574
NM_000546.6(TP53):c.856G>A (p.Glu286Lys) rs786201059
NM_000546.6(TP53):c.916C>T (p.Arg306Ter) rs121913344
NM_000546.6(TP53):c.919+2T>G rs1131691016
NM_000546.6(TP53):c.920-1G>A rs587781702
NM_000546.6(TP53):c.920-1G>T rs587781702
NM_000546.6(TP53):c.976G>T (p.Glu326Ter) rs876659384
NM_000546.6(TP53):c.983dup (p.Thr329fs) rs886041285
NM_000546.6(TP53):c.993+1G>A rs11575997
NM_000546.6(TP53):c.993+1G>C rs11575997
NM_000546.6(TP53):c.994-1G>A rs587782272
NM_000546.6(TP53):c.994-1G>C rs587782272
NM_000548.5(TSC2):c.1060C>T (p.Gln354Ter) rs45469896
NM_000548.5(TSC2):c.1111C>T (p.Gln371Ter) rs45469099
NM_000548.5(TSC2):c.1195G>T (p.Glu399Ter) rs773920155
NM_000548.5(TSC2):c.1257+1G>A rs397515066
NM_000548.5(TSC2):c.1258G>T (p.Glu420Ter) rs796053484
NM_000548.5(TSC2):c.133_136del (p.Leu45fs) rs137854360
NM_000548.5(TSC2):c.1372C>T (p.Arg458Ter) rs45517169
NM_000548.5(TSC2):c.138_138+1del rs137854117
NM_000548.5(TSC2):c.139-1G>A rs1567386603
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.1831C>T (p.Arg611Trp) rs45469298
NM_000548.5(TSC2):c.1832G>A (p.Arg611Gln) rs28934872
NM_000548.5(TSC2):c.1929C>G (p.Tyr643Ter) rs368710573
NM_000548.5(TSC2):c.1959_1960del (p.Gly654fs) rs137854144
NM_000548.5(TSC2):c.2090dup (p.Leu697fs) rs137854189
NM_000548.5(TSC2):c.2098-1G>A rs45517212
NM_000548.5(TSC2):c.2108G>A (p.Trp703Ter) rs45517213
NM_000548.5(TSC2):c.2194C>T (p.Gln732Ter) rs45517216
NM_000548.5(TSC2):c.2221-1G>A rs45517218
NM_000548.5(TSC2):c.2251C>T (p.Arg751Ter) rs45517222
NM_000548.5(TSC2):c.2356-1G>A rs45481704
NM_000548.5(TSC2):c.2377G>T (p.Glu793Ter) rs1596356248
NM_000548.5(TSC2):c.2546-2A>G rs45517246
NM_000548.5(TSC2):c.2639+1G>A rs45517252
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.2714G>A (p.Arg905Gln) rs45517259
NM_000548.5(TSC2):c.2824G>T (p.Glu942Ter) rs45517270
NM_000548.5(TSC2):c.2838-122G>A rs1567489890
NM_000548.5(TSC2):c.3094C>T (p.Arg1032Ter) rs45465195
NM_000548.5(TSC2):c.3099C>A (p.Tyr1033Ter) rs45464800
NM_000548.5(TSC2):c.3131+1G>A rs45506401
NM_000548.5(TSC2):c.3180G>A (p.Trp1060Ter) rs796053509
NM_000548.5(TSC2):c.3206_3207del (p.Val1069fs) rs137854076
NM_000548.5(TSC2):c.3259dup (p.Glu1087fs) rs137854302
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.3442C>T (p.Gln1148Ter) rs45477491
NM_000548.5(TSC2):c.3532C>T (p.Gln1178Ter) rs45517297
NM_000548.5(TSC2):c.358A>T (p.Arg120Ter) rs1131691602
NM_000548.5(TSC2):c.3610+1G>A rs45517299
NM_000548.5(TSC2):c.3685C>T (p.Gln1229Ter) rs45517306
NM_000548.5(TSC2):c.3693_3696del (p.Ser1232fs) rs137853993
NM_000548.5(TSC2):c.3696dup (p.Asn1233Ter) rs137854210
NM_000548.5(TSC2):c.3791del (p.Pro1264fs) rs137854001
NM_000548.5(TSC2):c.3884-1G>C rs137854079
NM_000548.5(TSC2):c.4096G>T (p.Glu1366Ter) rs45517327
NM_000548.5(TSC2):c.4174C>T (p.Gln1392Ter) rs45517330
NM_000548.5(TSC2):c.4183C>T (p.Gln1395Ter) rs886041772
NM_000548.5(TSC2):c.4258_4261del (p.Ser1420fs) rs137854132
NM_000548.5(TSC2):c.4318C>T (p.Gln1440Ter) rs45517337
NM_000548.5(TSC2):c.4473del (p.Val1492fs) rs397515023
NM_000548.5(TSC2):c.4493+1G>A rs1057518230
NM_000548.5(TSC2):c.4507C>T (p.Gln1503Ter) rs45517348
NM_000548.5(TSC2):c.4544_4547del (p.Asn1515fs) rs137854175
NM_000548.5(TSC2):c.4573C>T (p.Gln1525Ter) rs45517352
NM_000548.5(TSC2):c.4594C>T (p.Gln1532Ter) rs886041919
NM_000548.5(TSC2):c.4655_4657del (p.Glu1552del) rs137854146
NM_000548.5(TSC2):c.4762C>T (p.Gln1588Ter) rs45479192
NM_000548.5(TSC2):c.4846C>T (p.Gln1616Ter) rs45455296
NM_000548.5(TSC2):c.488_489del (p.Phe163fs) rs137854122
NM_000548.5(TSC2):c.4934_4935del (p.Phe1645fs) rs137854141
NM_000548.5(TSC2):c.4936G>A (p.Val1646Met) rs1064796970
NM_000548.5(TSC2):c.4952A>G (p.Asn1651Ser) rs45517382
NM_000548.5(TSC2):c.4989+1G>A rs45517386
NM_000548.5(TSC2):c.4993C>T (p.Gln1665Ter) rs45448101
NM_000548.5(TSC2):c.500G>A (p.Trp167Ter) rs1131691794
NM_000548.5(TSC2):c.5024C>T (p.Pro1675Leu) rs45483392
NM_000548.5(TSC2):c.5068+1G>A rs45445199
NM_000548.5(TSC2):c.5068+2T>C rs397515152
NM_000548.5(TSC2):c.5140C>T (p.Gln1714Ter) rs45517396
NM_000548.5(TSC2):c.5160+1G>A rs45517399
NM_000548.5(TSC2):c.5161-1G>A rs45517404
NM_000548.5(TSC2):c.5161-1G>C rs45517404
NM_000548.5(TSC2):c.5220G>A (p.Trp1740Ter) rs45517411
NM_000548.5(TSC2):c.5227C>T (p.Arg1743Trp) rs45517412
NM_000548.5(TSC2):c.5252_5259+19del rs137854397
NM_000548.5(TSC2):c.5289del (p.Ser1764fs) rs1555441221
NM_000548.5(TSC2):c.569dup (p.Tyr190Ter) rs137854359
NM_000548.5(TSC2):c.648+1G>A rs45488893
NM_000548.5(TSC2):c.658C>T (p.Gln220Ter) rs45517119
NM_000548.5(TSC2):c.774+1G>A rs45517128
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+281C>T rs45517132
NM_000548.5(TSC2):c.976-15G>A rs45517150
NM_000554.6(CRX):c.570dup (p.Tyr191fs) rs1968168564
NM_000642.3(AGL):c.1000dup (p.Thr334fs) rs1553185302
NM_000642.3(AGL):c.1020del (p.Glu340fs) rs1651357012
NM_000642.3(AGL):c.104T>G (p.Leu35Ter) rs1057516567
NM_000642.3(AGL):c.118C>T (p.Gln40Ter) rs771961377
NM_000642.3(AGL):c.1384del (p.Trp461_Val462insTer) rs786204678
NM_000642.3(AGL):c.1405C>T (p.Arg469Ter) rs766536350
NM_000642.3(AGL):c.1423+1G>C rs751952198
NM_000642.3(AGL):c.1589C>G (p.Ser530Ter) rs1553185905
NM_000642.3(AGL):c.18_19del (p.Gln6fs) rs113994127
NM_000642.3(AGL):c.2036del (p.Lys679fs) rs2100759432
NM_000642.3(AGL):c.2457_2460del (p.Gln820fs) rs1553187237
NM_000642.3(AGL):c.2670del (p.Pro891fs) rs764591009
NM_000642.3(AGL):c.2681+1G>T rs201201443
NM_000642.3(AGL):c.2690_2691dup (p.Arg898fs)
NM_000642.3(AGL):c.289C>T (p.Gln97Ter) rs1553183220
NM_000642.3(AGL):c.2996del (p.Pro999fs) rs1652909202
NM_000642.3(AGL):c.3011del (p.Pro1004fs) rs1057516306
NM_000642.3(AGL):c.3179C>G (p.Ser1060Ter) rs774926455
NM_000642.3(AGL):c.3216_3217del (p.Glu1072fs) rs771069887
NM_000642.3(AGL):c.3235C>T (p.Gln1079Ter) rs1553188849
NM_000642.3(AGL):c.3297G>A (p.Trp1099Ter) rs786204490
NM_000642.3(AGL):c.3362+2T>C rs2100804114
NM_000642.3(AGL):c.3444C>A (p.Tyr1148Ter) rs776977863
NM_000642.3(AGL):c.348_373del (p.Ala117fs) rs1057516308
NM_000642.3(AGL):c.3613C>T (p.Gln1205Ter) rs775498547
NM_000642.3(AGL):c.3911dup (p.Asn1304fs) rs745757264
NM_000642.3(AGL):c.4197del (p.Ala1400fs) rs786204595
NM_000642.3(AGL):c.4221del (p.Lys1407fs) rs786204655
NM_000642.3(AGL):c.4221dup (p.Leu1408fs) rs786204655
NM_000642.3(AGL):c.4322_4323dup (p.Gly1442fs) rs1057516994
NM_000642.3(AGL):c.4371T>G (p.Tyr1457Ter) rs1655136943
NM_000642.3(AGL):c.4422del (p.Ala1475fs) rs1286364615
NM_000642.3(AGL):c.4456del (p.Ser1486fs) rs113994134
NM_000642.3(AGL):c.500dup (p.Leu168fs) rs1443902661
NM_000642.3(AGL):c.613A>T (p.Lys205Ter) rs562042076
NM_000642.3(AGL):c.64del (p.Leu22fs) rs1057517057
NM_000642.3(AGL):c.753_756del (p.Asp251fs) rs748789700
NM_000642.3(AGL):c.854del (p.Arg285fs) rs1553184620
NM_000642.3(AGL):c.891dup (p.Leu298fs) rs775335476
NM_000642.3(AGL):c.958+1G>A rs1553184657
NM_000642.3(AGL):c.967C>T (p.Arg323Ter) rs757987101
NM_000709.4(BCKDHA):c.1008_1015del (p.His336fs) rs1330793674
NM_000709.4(BCKDHA):c.1119G>A (p.Trp373Ter) rs765543886
NM_000709.4(BCKDHA):c.117del (p.Arg40fs) rs398123489
NM_000709.4(BCKDHA):c.117dup (p.Arg40fs) rs398123489
NM_000709.4(BCKDHA):c.1198A>T (p.Lys400Ter) rs863225262
NM_000709.4(BCKDHA):c.143del (p.Leu48fs) rs1555765593
NM_000709.4(BCKDHA):c.511del (p.Leu171fs) rs762084007
NM_000709.4(BCKDHA):c.718del (p.Ala240fs) rs1555766993
NM_000709.4(BCKDHA):c.859C>T (p.Arg287Ter) rs764247545
NM_000709.4(BCKDHA):c.861_868del (p.Gly288fs) rs794727847
NM_000709.4(BCKDHA):c.905A>C (p.Asp302Ala) rs398123509
NM_001006658.3(CR2):c.1225+1G>C rs398122864
NM_001006658.3(CR2):c.462T>A (p.Cys154Ter) rs1572952530
NM_001006658.3(CR2):c.593dup (p.Leu198fs) rs763336891
NM_001042432.2(CLN3):c.105G>A (p.Trp35Ter) rs386833700
NM_001042432.2(CLN3):c.240del (p.Pro81fs) rs748710466
NM_001042432.2(CLN3):c.569dup (p.Ala191fs) rs386833732
NM_001042432.2(CLN3):c.597C>A (p.Tyr199Ter) rs267606737
NM_001042432.2(CLN3):c.784A>T (p.Lys262Ter) rs1064794233
NM_001042432.2(CLN3):c.816_817del (p.Glu273fs) rs886041546
NM_001042432.2(CLN3):c.883G>T (p.Glu295Ter) rs121434286
NM_001042492.3(NF1):c.1008G>A (p.Trp336Ter) rs2143873786
NM_001042492.3(NF1):c.1020dup (p.Val341fs) rs1555610905
NM_001042492.3(NF1):c.1039C>T (p.Gln347Ter) rs1555610910
NM_001042492.3(NF1):c.1062G>A (p.Lys354=) rs1131691118
NM_001042492.3(NF1):c.1063-2A>G rs1060500358
NM_001042492.3(NF1):c.1094C>G (p.Ser365Ter) rs864622107
NM_001042492.3(NF1):c.1121_1122del (p.Asp374fs) rs1597682030
NM_001042492.3(NF1):c.1174C>T (p.Gln392Ter) rs1597682137
NM_001042492.3(NF1):c.1182dup (p.Lys395Ter) rs1597682159
NM_001042492.3(NF1):c.1183_1185+2del rs1555611039
NM_001042492.3(NF1):c.1185+1G>A rs864622161
NM_001042492.3(NF1):c.1185+1G>T rs864622161
NM_001042492.3(NF1):c.1185+2T>G rs1555611043
NM_001042492.3(NF1):c.1186-2A>G rs1373365576
NM_001042492.3(NF1):c.1198C>T (p.Gln400Ter) rs1597682751
NM_001042492.3(NF1):c.1218del (p.His407fs) rs1131691106
NM_001042492.3(NF1):c.1238C>G (p.Ser413Ter) rs1241533665
NM_001042492.3(NF1):c.1246C>T (p.Arg416Ter) rs764079291
NM_001042492.3(NF1):c.1260+1604A>G rs1131691067
NM_001042492.3(NF1):c.1260+1G>C rs267606603
NM_001042492.3(NF1):c.128T>C (p.Leu43Pro) rs1555604899
NM_001042492.3(NF1):c.1296_1297dup (p.Tyr433fs) rs2066619428
NM_001042492.3(NF1):c.1299T>G (p.Tyr433Ter) rs876660099
NM_001042492.3(NF1):c.1362_1364del (p.Cys454_Gly455delinsTer) rs2143915068
NM_001042492.3(NF1):c.1381C>T (p.Arg461Ter) rs878853865
NM_001042492.3(NF1):c.1392+1G>A rs267604791
NM_001042492.3(NF1):c.1392+1G>C rs267604791
NM_001042492.3(NF1):c.1399dup (p.Thr467fs) rs778963145
NM_001042492.3(NF1):c.1408G>T (p.Glu470Ter) rs1597698330
NM_001042492.3(NF1):c.1440del (p.Lys480fs) rs2066786100
NM_001042492.3(NF1):c.1453G>T (p.Glu485Ter) rs1131691610
NM_001042492.3(NF1):c.1527+1G>A rs1060500331
NM_001042492.3(NF1):c.1540C>T (p.Gln514Ter) rs1316926587
NM_001042492.3(NF1):c.1541del (p.Gln514fs) rs1555612815
NM_001042492.3(NF1):c.1591C>T (p.Gln531Ter) rs1057518134
NM_001042492.3(NF1):c.1601del (p.Pro534fs) rs2143986751
NM_001042492.3(NF1):c.1603C>T (p.Gln535Ter) rs1567843917
NM_001042492.3(NF1):c.1607C>A (p.Ser536Ter) rs1555612859
NM_001042492.3(NF1):c.1642-1G>A rs1555613185
NM_001042492.3(NF1):c.1663_1666del (p.Leu555fs) rs2066928095
NM_001042492.3(NF1):c.1713G>A (p.Trp571Ter) rs863224489
NM_001042492.3(NF1):c.1714del (p.Glu572fs) rs876660135
NM_001042492.3(NF1):c.1721+1G>C rs1131691096
NM_001042492.3(NF1):c.1721+1G>T rs1131691096
NM_001042492.3(NF1):c.1721+3A>G rs1057518904
NM_001042492.3(NF1):c.1722-11T>G rs2066961306
NM_001042492.3(NF1):c.1722-1G>A rs1567845818
NM_001042492.3(NF1):c.1722-2A>G rs763983337
NM_001042492.3(NF1):c.1726C>T (p.Gln576Ter) rs1060500278
NM_001042492.3(NF1):c.1754T>G (p.Leu585Ter) rs775670722
NM_001042492.3(NF1):c.1756_1759del (p.Thr586fs) rs786202782
NM_001042492.3(NF1):c.1765C>T (p.Gln589Ter) rs1282299543
NM_001042492.3(NF1):c.1783_1784del (p.Glu595fs) rs786204059
NM_001042492.3(NF1):c.1796G>A (p.Trp599Ter) rs1131691130
NM_001042492.3(NF1):c.1797G>A (p.Trp599Ter) rs1567845906
NM_001042492.3(NF1):c.1845+1G>A rs1567845945
NM_001042492.3(NF1):c.1845G>A (p.Lys615=) rs1131691080
NM_001042492.3(NF1):c.1882dup (p.Tyr628fs) rs1555613558
NM_001042492.3(NF1):c.1884C>A (p.Tyr628Ter) rs555635097
NM_001042492.3(NF1):c.1885G>A (p.Gly629Arg) rs199474738
NM_001042492.3(NF1):c.1888del (p.Gly629_Val630insTer) rs1567846670
NM_001042492.3(NF1):c.1908del (p.Ser637fs) rs2144026600
NM_001042492.3(NF1):c.1912G>T (p.Gly638Ter) rs1555613567
NM_001042492.3(NF1):c.1924C>T (p.Gln642Ter) rs2066991605
NM_001042492.3(NF1):c.1955del (p.Arg652fs) rs1597710690
NM_001042492.3(NF1):c.1986del (p.Asn664fs) rs2066993468
NM_001042492.3(NF1):c.1A>G (p.Met1Val) rs1060500252
NM_001042492.3(NF1):c.2002-1G>A rs1555613743
NM_001042492.3(NF1):c.2033del (p.Pro678fs) rs587781807
NM_001042492.3(NF1):c.2033dup (p.Ile679fs) rs587781807
NM_001042492.3(NF1):c.204+1G>A rs886039548
NM_001042492.3(NF1):c.204+1G>T rs886039548
NM_001042492.3(NF1):c.2044C>T (p.Gln682Ter) rs1597712392
NM_001042492.3(NF1):c.205-1G>C rs1555605362
NM_001042492.3(NF1):c.205-2A>C rs1597629679
NM_001042492.3(NF1):c.205-2A>G rs1597629679
NM_001042492.3(NF1):c.2163T>A (p.Cys721Ter) rs1555613816
NM_001042492.3(NF1):c.2252-1G>A rs587781577
NM_001042492.3(NF1):c.2266C>T (p.Gln756Ter) rs1567847905
NM_001042492.3(NF1):c.2325+1G>A rs1555613933
NM_001042492.3(NF1):c.2325+1G>T rs1555613933
NM_001042492.3(NF1):c.2325+2T>C rs1567847972
NM_001042492.3(NF1):c.2325+3A>G rs1057517848
NM_001042492.3(NF1):c.2325G>C (p.Glu775Asp) rs1555613932
NM_001042492.3(NF1):c.2326-6T>G rs1597713670
NM_001042492.3(NF1):c.2329T>C (p.Trp777Arg) rs876658853
NM_001042492.3(NF1):c.2339C>G (p.Thr780Arg) rs199474746
NM_001042492.3(NF1):c.233del (p.Asn78fs) rs1438566555
NM_001042492.3(NF1):c.2356C>T (p.Gln786Ter) rs1555613999
NM_001042492.3(NF1):c.236T>G (p.Leu79Ter) rs1597629765
NM_001042492.3(NF1):c.2407C>T (p.Gln803Ter) rs1567848213
NM_001042492.3(NF1):c.2409+1G>A rs1555614022
NM_001042492.3(NF1):c.2409+1G>C rs1555614022
NM_001042492.3(NF1):c.2409+1G>T rs1555614022
NM_001042492.3(NF1):c.2409+2T>G rs876660826
NM_001042492.3(NF1):c.2410-1G>A rs1057518792
NM_001042492.3(NF1):c.2446C>T (p.Arg816Ter) rs886041347
NM_001042492.3(NF1):c.2447del (p.Arg816fs) rs2067064931
NM_001042492.3(NF1):c.2449dup (p.Met817fs) rs1567848755
NM_001042492.3(NF1):c.244_247del (p.Ser82_Gln83insTer) rs771115661
NM_001042492.3(NF1):c.2455del (p.His819fs) rs1567848761
NM_001042492.3(NF1):c.246_247del (p.Gln83fs) rs771115661
NM_001042492.3(NF1):c.247C>T (p.Gln83Ter) rs746824139
NM_001042492.3(NF1):c.2503C>T (p.Gln835Ter) rs1555614207
NM_001042492.3(NF1):c.2506G>T (p.Glu836Ter) rs2067066435
NM_001042492.3(NF1):c.2531T>G (p.Leu844Arg) rs137854566
NM_001042492.3(NF1):c.2533T>C (p.Cys845Arg) rs1060500254
NM_001042492.3(NF1):c.2534G>A (p.Cys845Tyr) rs1060500367
NM_001042492.3(NF1):c.2537C>A (p.Ala846Asp) rs1555614229
NM_001042492.3(NF1):c.2540T>G (p.Leu847Arg) rs199474747
NM_001042492.3(NF1):c.2542G>A (p.Gly848Arg) rs1060500368
NM_001042492.3(NF1):c.2543G>A (p.Gly848Glu) rs199474748
NM_001042492.3(NF1):c.2545_2546dup (p.Val850fs) rs1567848878
NM_001042492.3(NF1):c.2546del (p.Gly849fs) rs1567848878
NM_001042492.3(NF1):c.2553C>A (p.Cys851Ter) rs2230852
NM_001042492.3(NF1):c.2557C>T (p.Gln853Ter) rs2151429126
NM_001042492.3(NF1):c.2674del (p.Ser892fs) rs1555614296
NM_001042492.3(NF1):c.2709G>A (p.Val903=) rs771820789
NM_001042492.3(NF1):c.2734C>T (p.Gln912Ter) rs1597715673
NM_001042492.3(NF1):c.2827A>T (p.Lys943Ter) rs1567849199
NM_001042492.3(NF1):c.2842C>T (p.Gln948Ter) rs1567849237
NM_001042492.3(NF1):c.2848C>T (p.Gln950Ter) rs1060500357
NM_001042492.3(NF1):c.2850+1G>A rs1131691122
NM_001042492.3(NF1):c.2850+1G>T rs1131691122
NM_001042492.3(NF1):c.2850G>A (p.Gln950=) rs863224446
NM_001042492.3(NF1):c.2851-6_2851-3del rs1597716256
NM_001042492.3(NF1):c.288+1G>T rs1567816131
NM_001042492.3(NF1):c.288+1del rs1057519370
NM_001042492.3(NF1):c.2887C>T (p.Gln963Ter) rs876660444
NM_001042492.3(NF1):c.2890del (p.Thr964fs) rs1555614437
NM_001042492.3(NF1):c.2953C>T (p.Gln985Ter) rs1555614455
NM_001042492.3(NF1):c.2970_2971del (p.Met991fs) rs1597716432
NM_001042492.3(NF1):c.2970_2972del (p.Met992del) rs267606606
NM_001042492.3(NF1):c.2978T>G (p.Leu993Ter) rs1555614460
NM_001042492.3(NF1):c.2990+1G>C rs1135402836
NM_001042492.3(NF1):c.2991-1G>A rs1060500273
NM_001042492.3(NF1):c.2T>A (p.Met1Lys) rs886041346
NM_001042492.3(NF1):c.2T>C (p.Met1Thr) rs886041346
NM_001042492.3(NF1):c.2T>G (p.Met1Arg) rs886041346
NM_001042492.3(NF1):c.3028C>T (p.Gln1010Ter) rs2151431557
NM_001042492.3(NF1):c.3037del (p.Thr1013fs) rs1135402838
NM_001042492.3(NF1):c.3046T>C (p.Cys1016Arg) rs878853880
NM_001042492.3(NF1):c.3047_3048del (p.Cys1016fs) rs1597716910
NM_001042492.3(NF1):c.3049C>T (p.Gln1017Ter) rs2067091604
NM_001042492.3(NF1):c.3058G>T (p.Glu1020Ter) rs2067091885
NM_001042492.3(NF1):c.3060del (p.Glu1020_Val1021insTer) rs1555614521
NM_001042492.3(NF1):c.3076A>T (p.Arg1026Ter) rs1555614529
NM_001042492.3(NF1):c.3088_3089dup (p.Phe1031fs) rs2067092561
NM_001042492.3(NF1):c.3097C>T (p.Gln1033Ter) rs1131691104
NM_001042492.3(NF1):c.3113+1G>A rs267606599
NM_001042492.3(NF1):c.3113+1G>C rs267606599
NM_001042492.3(NF1):c.3113+1G>T rs267606599
NM_001042492.3(NF1):c.3113+2T>G rs876658997
NM_001042492.3(NF1):c.311T>G (p.Leu104Ter) rs1057521097
NM_001042492.3(NF1):c.3144G>A (p.Trp1048Ter) rs1555614635
NM_001042492.3(NF1):c.3161_3165del (p.Asn1054fs) rs1555614642
NM_001042492.3(NF1):c.3186del (p.Lys1062fs) rs1597717672
NM_001042492.3(NF1):c.3197+1G>A rs1555614653
NM_001042492.3(NF1):c.3198-2A>G rs1131691089
NM_001042492.3(NF1):c.31C>T (p.Gln11Ter) rs876658658
NM_001042492.3(NF1):c.3232dup (p.Ser1078fs) rs2151433720
NM_001042492.3(NF1):c.3233C>G (p.Ser1078Ter) rs2067122696
NM_001042492.3(NF1):c.3256C>T (p.Gln1086Ter) rs2067123355
NM_001042492.3(NF1):c.3299C>A (p.Ser1100Ter) rs2067124341
NM_001042492.3(NF1):c.3313A>T (p.Lys1105Ter) rs1555614867
NM_001042492.3(NF1):c.3315-2A>G rs1555614914
NM_001042492.3(NF1):c.3315-3C>G rs752318318
NM_001042492.3(NF1):c.334C>T (p.Gln112Ter) rs1555606061
NM_001042492.3(NF1):c.3367G>T (p.Glu1123Ter) rs1555614940
NM_001042492.3(NF1):c.3376C>T (p.Gln1126Ter) rs1555614947
NM_001042492.3(NF1):c.338dup (p.Leu113fs) rs1597635740
NM_001042492.3(NF1):c.339del (p.Leu113fs) rs1597635745
NM_001042492.3(NF1):c.3449C>G (p.Ser1150Ter) rs1555614972
NM_001042492.3(NF1):c.3456dup (p.Leu1153fs) rs1430634618
NM_001042492.3(NF1):c.3457_3460del (p.Leu1153fs) rs1321848637
NM_001042492.3(NF1):c.3520C>T (p.Gln1174Ter) rs868450405
NM_001042492.3(NF1):c.3525_3526del (p.Arg1176fs) rs1131691092
NM_001042492.3(NF1):c.3544G>T (p.Val1182Phe) rs1555615027
NM_001042492.3(NF1):c.3562C>T (p.Gln1188Ter) rs2067142295
NM_001042492.3(NF1):c.3565C>T (p.Gln1189Ter) rs878853884
NM_001042492.3(NF1):c.3604del (p.Ala1202fs) rs1597720036
NM_001042492.3(NF1):c.3639_3641del (p.Met1215del) rs1060500276
NM_001042492.3(NF1):c.3665del (p.Pro1222fs) rs867391752
NM_001042492.3(NF1):c.3686del (p.Asn1229fs) rs1555615103
NM_001042492.3(NF1):c.3703C>T (p.Gln1235Ter) rs1555615109
NM_001042492.3(NF1):c.3712G>T (p.Glu1238Ter) rs1060500346
NM_001042492.3(NF1):c.3721C>T (p.Arg1241Ter) rs137854562
NM_001042492.3(NF1):c.3737dup (p.Phe1247fs) rs1555615445
NM_001042492.3(NF1):c.3739_3742del (p.Phe1247fs) rs1064794276
NM_001042492.3(NF1):c.3763C>T (p.Gln1255Ter) rs1060500308
NM_001042492.3(NF1):c.3790G>A (p.Glu1264Lys) rs863224660
NM_001042492.3(NF1):c.3790G>T (p.Glu1264Ter) rs863224660
NM_001042492.3(NF1):c.3814C>T (p.Gln1272Ter) rs2067188361
NM_001042492.3(NF1):c.3821dup (p.Phe1275fs) rs786203614
NM_001042492.3(NF1):c.3822_3823del (p.Phe1275fs) rs1555615472
NM_001042492.3(NF1):c.3826C>T (p.Arg1276Ter) rs199474742
NM_001042492.3(NF1):c.3826del (p.Arg1276fs) rs2067188667
NM_001042492.3(NF1):c.3827G>C (p.Arg1276Pro) rs137854556
NM_001042492.3(NF1):c.3827G>T (p.Arg1276Leu) rs137854556
NM_001042492.3(NF1):c.3870+1G>A rs1131691075
NM_001042492.3(NF1):c.3870+1G>T rs1131691075
NM_001042492.3(NF1):c.3871-2A>G rs1131691077
NM_001042492.3(NF1):c.3892C>T (p.Gln1298Ter) rs2067193761
NM_001042492.3(NF1):c.3911del (p.Leu1304fs) rs1555615549
NM_001042492.3(NF1):c.3916C>T (p.Arg1306Ter) rs376576925
NM_001042492.3(NF1):c.3942G>A (p.Trp1314Ter) rs2067194816
NM_001042492.3(NF1):c.3974+1G>A rs1567852849
NM_001042492.3(NF1):c.3974+1G>C rs1567852849
NM_001042492.3(NF1):c.3975-2A>G rs864622431
NM_001042492.3(NF1):c.3977T>G (p.Leu1326Ter) rs2067447633
NM_001042492.3(NF1):c.4004dup (p.Asn1335fs) rs2067448379
NM_001042492.3(NF1):c.4016T>G (p.Leu1339Arg) rs1567858306
NM_001042492.3(NF1):c.4021C>T (p.Gln1341Ter) rs137854559
NM_001042492.3(NF1):c.4076del (p.Pro1359fs) rs1135402852
NM_001042492.3(NF1):c.4076dup (p.Gln1360fs) rs1135402852
NM_001042492.3(NF1):c.4078C>T (p.Gln1360Ter) rs1555617368
NM_001042492.3(NF1):c.4084C>T (p.Arg1362Ter) rs137854560
NM_001042492.3(NF1):c.4107C>A (p.Tyr1369Ter) rs1597735272
NM_001042492.3(NF1):c.4110+1G>A rs1555617383
NM_001042492.3(NF1):c.4110+1G>T rs1555617383
NM_001042492.3(NF1):c.4174-2A>G rs1555618489
NM_001042492.3(NF1):c.4183C>T (p.Gln1395Ter) rs1555618494
NM_001042492.3(NF1):c.4195C>T (p.Gln1399Ter) rs1131691072
NM_001042492.3(NF1):c.4234A>G (p.Arg1412Gly) rs1555618515
NM_001042492.3(NF1):c.4306G>T (p.Glu1436Ter) rs876660428
NM_001042492.3(NF1):c.4316T>A (p.Leu1439Ter) rs1567862071
NM_001042492.3(NF1):c.4331A>G (p.Lys1444Arg) rs199474781
NM_001042492.3(NF1):c.4332+1G>A rs1555618572
NM_001042492.3(NF1):c.4332+2T>C rs786204207
NM_001042492.3(NF1):c.4333-2A>G rs1555618634
NM_001042492.3(NF1):c.4369A>G (p.Lys1457Glu) rs878853893
NM_001042492.3(NF1):c.4372G>T (p.Glu1458Ter) rs1135402858
NM_001042492.3(NF1):c.4430+1G>A rs773151680
NM_001042492.3(NF1):c.4430+1G>C rs773151680
NM_001042492.3(NF1):c.4431-1G>T rs1597746891
NM_001042492.3(NF1):c.4436del (p.Phe1479fs) rs1555618803
NM_001042492.3(NF1):c.4436dup (p.Leu1480fs) rs1555618803
NM_001042492.3(NF1):c.4465A>G (p.Ser1489Gly) rs199474743
NM_001042492.3(NF1):c.4535G>A (p.Trp1512Ter) rs1267947462
NM_001042492.3(NF1):c.4536G>A (p.Trp1512Ter) rs878853897
NM_001042492.3(NF1):c.4543C>T (p.Gln1515Ter) rs1567862991
NM_001042492.3(NF1):c.4558C>T (p.Gln1520Ter) rs1060500242
NM_001042492.3(NF1):c.4577+1G>A rs1279529138
NM_001042492.3(NF1):c.4578-1G>C rs1555618999
NM_001042492.3(NF1):c.4608del (p.Phe1536fs) rs2151466252
NM_001042492.3(NF1):c.4635C>G (p.Tyr1545Ter) rs754023358
NM_001042492.3(NF1):c.4669dup (p.Thr1557fs) rs1555619033
NM_001042492.3(NF1):c.4676G>A (p.Trp1559Ter) rs2067691658
NM_001042492.3(NF1):c.4677G>A (p.Trp1559Ter) rs137854555
NM_001042492.3(NF1):c.4684del (p.Asn1563fs) rs1555619041
NM_001042492.3(NF1):c.4700C>A (p.Ser1567Ter) rs1555619051
NM_001042492.3(NF1):c.4724+1G>A rs1555619056
NM_001042492.3(NF1):c.4724+2T>G rs1597748995
NM_001042492.3(NF1):c.4725-1G>A rs1555619391
NM_001042492.3(NF1):c.4729C>T (p.Gln1577Ter) rs797044942
NM_001042492.3(NF1):c.4744_4745del (p.Glu1582fs) rs1555619395
NM_001042492.3(NF1):c.4747G>T (p.Glu1583Ter) rs2067765099
NM_001042492.3(NF1):c.4769T>A (p.Leu1590Ter) rs2067765689
NM_001042492.3(NF1):c.479+1G>A rs1555606137
NM_001042492.3(NF1):c.4819dup (p.Tyr1607fs) rs876658492
NM_001042492.3(NF1):c.4835+1G>A rs1085307819
NM_001042492.3(NF1):c.4836-1G>A rs1057518326
NM_001042492.3(NF1):c.484C>T (p.Gln162Ter) rs1555607073
NM_001042492.3(NF1):c.487G>T (p.Glu163Ter) rs2065903080
NM_001042492.3(NF1):c.496_497del (p.Val166fs) rs1135402788
NM_001042492.3(NF1):c.4973_4974del (p.Phe1658fs) rs2069329470
NM_001042492.3(NF1):c.4977_4980del (p.Lys1661fs) rs1085307459
NM_001042492.3(NF1):c.4980dup (p.Lys1661Ter) rs2069329774
NM_001042492.3(NF1):c.4986G>A (p.Trp1662Ter) rs2151538007
NM_001042492.3(NF1):c.499_502del (p.Cys167fs) rs786201874
NM_001042492.3(NF1):c.5030TCTATA[1] (p.Ile1679_Tyr1680del) rs1135402868
NM_001042492.3(NF1):c.503C>G (p.Ser168Ter) rs1131691994
NM_001042492.3(NF1):c.5045_5046del (p.Asn1681_Cys1682insTer) rs1597829906
NM_001042492.3(NF1):c.5055G>A (p.Trp1685Ter) rs1555533354
NM_001042492.3(NF1):c.5067C>A (p.Tyr1689Ter) rs756708811
NM_001042492.3(NF1):c.5167C>T (p.Gln1723Ter) rs766727694
NM_001042492.3(NF1):c.5268+1G>T rs2069338793
NM_001042492.3(NF1):c.5268+2T>G rs1555533416
NM_001042492.3(NF1):c.5269-1G>A rs876660141
NM_001042492.3(NF1):c.5269-2A>G rs1555533548
NM_001042492.3(NF1):c.5287C>T (p.Gln1763Ter) rs2069375606
NM_001042492.3(NF1):c.5297C>G (p.Ser1766Ter) rs1555533555
NM_001042492.3(NF1):c.5305C>T (p.Arg1769Ter) rs876657714
NM_001042492.3(NF1):c.5327C>G (p.Ser1776Ter) rs2069376973
NM_001042492.3(NF1):c.5357C>A (p.Ser1786Ter) rs1555533569
NM_001042492.3(NF1):c.5392C>T (p.Gln1798Ter) rs1597832043
NM_001042492.3(NF1):c.540dup (p.Gln181fs) rs2065904037
NM_001042492.3(NF1):c.541C>T (p.Gln181Ter) rs753529924
NM_001042492.3(NF1):c.5464C>T (p.Gln1822Ter) rs2069381323
NM_001042492.3(NF1):c.5469dup (p.Ile1824fs) rs267606605
NM_001042492.3(NF1):c.5492G>A (p.Trp1831Ter) rs1135402872
NM_001042492.3(NF1):c.5501C>G (p.Ser1834Ter) rs1597832235
NM_001042492.3(NF1):c.5503C>T (p.Gln1835Ter) rs786202177
NM_001042492.3(NF1):c.5516del (p.Ile1839fs) rs1597832304
NM_001042492.3(NF1):c.5521C>T (p.Gln1841Ter) rs786203570
NM_001042492.3(NF1):c.5561T>G (p.Leu1854Arg) rs878853903
NM_001042492.3(NF1):c.55G>T (p.Glu19Ter) rs786203307
NM_001042492.3(NF1):c.5606T>G (p.Leu1869Ter) rs1597832482
NM_001042492.3(NF1):c.5609+1G>A rs1131691117
NM_001042492.3(NF1):c.5609G>A (p.Arg1870Gln) rs786202112
NM_001042492.3(NF1):c.5610-1G>C rs1567613569
NM_001042492.3(NF1):c.5610-2A>T rs1135402876
NM_001042492.3(NF1):c.5619del (p.Tyr1874fs) rs1555533842
NM_001042492.3(NF1):c.5671C>T (p.Gln1891Ter) rs878853904
NM_001042492.3(NF1):c.5676dup (p.Leu1893fs) rs1475358670
NM_001042492.3(NF1):c.5687C>G (p.Ser1896Ter) rs1135402879
NM_001042492.3(NF1):c.569T>G (p.Leu190Ter) rs1555607112
NM_001042492.3(NF1):c.5730dup (p.Ile1911fs) rs876660212
NM_001042492.3(NF1):c.5782G>T (p.Glu1928Ter) rs786203896
NM_001042492.3(NF1):c.5785G>T (p.Glu1929Ter) rs2069454068
NM_001042492.3(NF1):c.5789_5790del (p.Cys1930fs) rs2069454362
NM_001042492.3(NF1):c.5812+1G>A rs876658854
NM_001042492.3(NF1):c.5812+2T>C rs1555533887
NM_001042492.3(NF1):c.5813-1G>A rs1057518974
NM_001042492.3(NF1):c.5833del (p.Cys1945fs) rs1555534379
NM_001042492.3(NF1):c.5837del (p.Leu1946fs) rs2069601882
NM_001042492.3(NF1):c.5839G>T (p.Glu1947Ter) rs587782088
NM_001042492.3(NF1):c.5856G>A (p.Trp1952Ter) rs1555534393
NM_001042492.3(NF1):c.586+1G>A rs1555607126
NM_001042492.3(NF1):c.5902C>T (p.Arg1968Ter) rs137854552
NM_001042492.3(NF1):c.5907_5908del (p.Arg1970fs) rs863224835
NM_001042492.3(NF1):c.5914dup (p.Thr1972fs) rs2069606043
NM_001042492.3(NF1):c.5959C>T (p.Gln1987Ter) rs876659070
NM_001042492.3(NF1):c.5967C>G (p.Tyr1989Ter) rs1567615902
NM_001042492.3(NF1):c.5991G>A (p.Trp1997Ter) rs876660696
NM_001042492.3(NF1):c.60+1G>A rs1555594500
NM_001042492.3(NF1):c.6004C>T (p.Gln2002Ter) rs1567615941
NM_001042492.3(NF1):c.6006+1G>A rs1555534433
NM_001042492.3(NF1):c.6006+1G>T rs1555534433
NM_001042492.3(NF1):c.6007-2A>G rs1555534595
NM_001042492.3(NF1):c.6007-5A>G rs267606604
NM_001042492.3(NF1):c.61-2A>G rs1131691100
NM_001042492.3(NF1):c.6147+1G>A rs1060500296
NM_001042492.3(NF1):c.6147+2T>C rs1555534621
NM_001042492.3(NF1):c.6148-1G>C rs1555534661
NM_001042492.3(NF1):c.6148-2A>G rs2069681259
NM_001042492.3(NF1):c.6221del (p.Met2074fs) rs2069683635
NM_001042492.3(NF1):c.625C>T (p.Gln209Ter) rs786203448
NM_001042492.3(NF1):c.6307del (p.Leu2103fs) rs1131691125
NM_001042492.3(NF1):c.6355A>T (p.Arg2119Ter) rs2151554939
NM_001042492.3(NF1):c.6397_6398del (p.Leu2133fs) rs1567617129
NM_001042492.3(NF1):c.6401_6402del (p.Cys2134fs) rs1597843186
NM_001042492.3(NF1):c.6425del (p.Ser2142fs) rs2069691466
NM_001042492.3(NF1):c.6428-2A>G rs1060500312
NM_001042492.3(NF1):c.6488T>A (p.Leu2163Ter) rs1353492847
NM_001042492.3(NF1):c.6503del (p.Ser2168fs) rs1597843782
NM_001042492.3(NF1):c.653dup (p.Ala219fs) rs1131691094
NM_001042492.3(NF1):c.654+1G>A rs1060500245
NM_001042492.3(NF1):c.654+1G>T rs1060500245
NM_001042492.3(NF1):c.6540del (p.Ser2181fs) rs1597843853
NM_001042492.3(NF1):c.6546C>G (p.Tyr2182Ter) rs876659768
NM_001042492.3(NF1):c.655-2A>C rs1555608734
NM_001042492.3(NF1):c.6557C>G (p.Ser2186Ter) rs1131691091
NM_001042492.3(NF1):c.6583_6586del (p.Glu2195fs) rs1131691084
NM_001042492.3(NF1):c.6585_6586del (p.Glu2195fs) rs1131691084
NM_001042492.3(NF1):c.6590_6591del (p.Phe2197fs) rs2069707755
NM_001042492.3(NF1):c.6642+1G>A rs1060500345
NM_001042492.3(NF1):c.6642+1G>T rs1060500345
NM_001042492.3(NF1):c.6669C>A (p.Cys2223Ter) rs1555534918
NM_001042492.3(NF1):c.6675G>A (p.Trp2225Ter) rs2069717916
NM_001042492.3(NF1):c.6682C>T (p.Gln2228Ter) rs2069718249
NM_001042492.3(NF1):c.6687G>A (p.Trp2229Ter) rs1597844653
NM_001042492.3(NF1):c.669G>A (p.Trp223Ter) rs1057517967
NM_001042492.3(NF1):c.6704+1G>A rs1060500376
NM_001042492.3(NF1):c.6704+1del rs1597844692
NM_001042492.3(NF1):c.6733C>T (p.Gln2245Ter) rs1597845013
NM_001042492.3(NF1):c.6772C>T (p.Arg2258Ter) rs876658541
NM_001042492.3(NF1):c.6819+1G>A rs1555534964
NM_001042492.3(NF1):c.6819+2T>C rs1135402894
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.6902T>G (p.Leu2301Ter) rs2069745354
NM_001042492.3(NF1):c.6904C>T (p.Gln2302Ter) rs1057518807
NM_001042492.3(NF1):c.6921+1G>A rs1060500355
NM_001042492.3(NF1):c.6921+2T>C rs1555535053
NM_001042492.3(NF1):c.6939del (p.Ala2314fs) rs2069790028
NM_001042492.3(NF1):c.6970C>T (p.Gln2324Ter) rs1131691073
NM_001042492.3(NF1):c.7018C>T (p.Gln2340Ter) rs2069793099
NM_001042492.3(NF1):c.7037_7040del (p.Asp2346fs) rs1597848201
NM_001042492.3(NF1):c.7062+1G>A rs863224492
NM_001042492.3(NF1):c.7063-1G>A rs1131691114
NM_001042492.3(NF1):c.7063-1G>T rs1131691114
NM_001042492.3(NF1):c.7063-2A>G rs1597851255
NM_001042492.3(NF1):c.7106G>A (p.Trp2369Ter) rs2069867116
NM_001042492.3(NF1):c.7113C>A (p.Cys2371Ter) rs2069867490
NM_001042492.3(NF1):c.7117C>T (p.Gln2373Ter) rs1555535417
NM_001042492.3(NF1):c.7152dup (p.Asn2385Ter) rs1555535434
NM_001042492.3(NF1):c.7189+1G>C rs1555535455
NM_001042492.3(NF1):c.724dup (p.Met242fs) rs1555608763
NM_001042492.3(NF1):c.7255_7256del (p.Leu2419fs) rs1597858459
NM_001042492.3(NF1):c.7269_7270del (p.His2423fs) rs878853913
NM_001042492.3(NF1):c.7274del (p.Asn2425fs) rs1555536030
NM_001042492.3(NF1):c.7278_7279del (p.Cys2426_Asp2427delinsTer) rs2070076932
NM_001042492.3(NF1):c.730+1G>A rs1060500274
NM_001042492.3(NF1):c.7303_7304del (p.Ser2435fs) rs1597858594
NM_001042492.3(NF1):c.731-1G>A rs1555608928
NM_001042492.3(NF1):c.731-2A>C rs1555608924
NM_001042492.3(NF1):c.731-2A>G rs1555608924
NM_001042492.3(NF1):c.7314C>G (p.Tyr2438Ter) rs1060500385
NM_001042492.3(NF1):c.7330dup (p.Thr2444fs) rs1064794278
NM_001042492.3(NF1):c.7348C>T (p.Arg2450Ter) rs786202457
NM_001042492.3(NF1):c.7392del (p.Asp2465fs) rs786202180
NM_001042492.3(NF1):c.7453dup (p.Tyr2485fs) rs2070108811
NM_001042492.3(NF1):c.7458-1G>C rs1597862012
NM_001042492.3(NF1):c.7474C>T (p.Gln2492Ter) rs1555536340
NM_001042492.3(NF1):c.7482G>A (p.Trp2494Ter) rs863224493
NM_001042492.3(NF1):c.7496del (p.Gly2499fs) rs1555536352
NM_001042492.3(NF1):c.7544del (p.Ser2515fs) rs2070170648
NM_001042492.3(NF1):c.7549C>T (p.Arg2517Ter) rs866445127
NM_001042492.3(NF1):c.7581del (p.Gln2528fs) rs878853917
NM_001042492.3(NF1):c.7602dup (p.Lys2535Ter) rs2070172428
NM_001042492.3(NF1):c.7615+1G>T rs1555536380
NM_001042492.3(NF1):c.7666dup (p.Arg2556fs) rs2151581134
NM_001042492.3(NF1):c.7701del (p.Lys2568_Met2569insTer) rs1060500295
NM_001042492.3(NF1):c.7701dup (p.Lys2568fs) rs1060500295
NM_001042492.3(NF1):c.7747_7748del (p.Arg2583fs) rs1135402907
NM_001042492.3(NF1):c.7760C>G (p.Ser2587Ter) rs1131691090
NM_001042492.3(NF1):c.7762C>T (p.Gln2588Ter) rs1555536687
NM_001042492.3(NF1):c.7838del (p.Pro2613fs) rs1131691129
NM_001042492.3(NF1):c.7869+1G>A rs1329683225
NM_001042492.3(NF1):c.7906C>T (p.Gln2636Ter) rs567988442
NM_001042492.3(NF1):c.7909C>T (p.Arg2637Ter) rs786201367
NM_001042492.3(NF1):c.7920T>G (p.Tyr2640Ter) rs1060500333
NM_001042492.3(NF1):c.7947_7948del (p.Phe2650fs) rs2070298589
NM_001042492.3(NF1):c.7964del (p.Pro2655fs) rs1567627268
NM_001042492.3(NF1):c.7970+1G>A rs1555536773
NM_001042492.3(NF1):c.79C>T (p.Gln27Ter) rs1060500363
NM_001042492.3(NF1):c.801G>A (p.Trp267Ter) rs1064794273
NM_001042492.3(NF1):c.8059_8060del (p.Ser2687fs) rs1060500387
NM_001042492.3(NF1):c.8113+2T>G rs1597868312
NM_001042492.3(NF1):c.827T>A (p.Leu276Ter) rs2066158230
NM_001042492.3(NF1):c.82C>T (p.Gln28Ter) rs771764281
NM_001042492.3(NF1):c.844C>T (p.Gln282Ter) rs753054046
NM_001042492.3(NF1):c.888+1G>A rs1135402799
NM_001042492.3(NF1):c.888+1G>C rs1135402799
NM_001042492.3(NF1):c.888+1G>T rs1135402799
NM_001042492.3(NF1):c.910C>T (p.Arg304Ter) rs786203950
NM_001042492.3(NF1):c.943C>T (p.Gln315Ter) rs766011053
NM_001042492.3(NF1):c.952_953del (p.Glu318fs) rs2066507116
NM_001042492.3(NF1):c.955dup (p.Ser319fs) rs876660931
NM_001042492.3(NF1):c.983_984del (p.Leu327_Cys328insTer) rs1555610893
NM_001042492.3(NF1):c.999C>A (p.Tyr333Ter) rs1466912192
NM_001111.5(ADAR):c.2565_2568del (p.Asn857fs) rs1180888940
NM_001126108.2(SLC12A3):c.1924C>G (p.Arg642Gly) rs200697179
NM_001126108.2(SLC12A3):c.1930del (p.Gln644fs) rs779215330
NM_001126108.2(SLC12A3):c.2817G>A (p.Trp939Ter) rs760134110
NM_001126108.2(SLC12A3):c.283del (p.Gln95fs) rs1555499234
NM_001126108.2(SLC12A3):c.2842A>T (p.Lys948Ter) rs1244866304
NM_001126108.2(SLC12A3):c.35dup (p.Asp12fs) rs1964322654
NM_001135146.2(SLC39A8):c.218dup (p.Cys74fs) rs2149060093
NM_001142800.2(EYS):c.8150del (p.Lys2717fs) rs1251637752
NM_001165963.4(SCN1A):c.4933C>T (p.Arg1645Ter) rs794726759
NM_001165963.4(SCN1A):c.4999del (p.Leu1667fs) rs2105433855
NM_001182.5(ALDH7A1):c.1301_1302del (p.Tyr434fs) rs753671880
NM_001182.5(ALDH7A1):c.1468del (p.Ala490fs) rs796052267
NM_001182.5(ALDH7A1):c.518-1G>C rs779494572
NM_001182.5(ALDH7A1):c.902A>T (p.Asn301Ile) rs121912711
NM_001182.5(ALDH7A1):c.947dup (p.Ser317fs) rs778003597
NM_001232.4(CASQ2):c.339_354del (p.Ser113fs) rs786205106
NM_001253852.3(AP4B1):c.114-2A>C rs879255396
NM_001256864.2(DNAJC6):c.988C>T (p.Arg330Ter) rs1645867120
NM_001276345.2(TNNT2):c.266T>A (p.Ile89Asn) rs121964855
NM_001276345.2(TNNT2):c.311G>A (p.Arg104His) rs397516457
NM_001276345.2(TNNT2):c.358T>A (p.Phe120Ile) rs121964858
NM_001276345.2(TNNT2):c.422G>A (p.Arg141Gln) rs397516464
NM_001276345.2(TNNT2):c.451C>T (p.Arg151Trp) rs74315379
NM_001276345.2(TNNT2):c.547C>T (p.Arg183Trp) rs727503512
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_001365088.1(SLC12A6):c.1118+1G>A rs762730861
NM_001365088.1(SLC12A6):c.2023C>T (p.Arg675Ter) rs121908428
NM_001365088.1(SLC12A6):c.2436+1del rs515726215
NM_001365999.1(SZT2):c.4396C>T (p.Arg1466Ter) rs766090540
NM_001365999.1(SZT2):c.7735C>T (p.Gln2579Ter) rs2153935815
NM_001365999.1(SZT2):c.9040C>T (p.Arg3014Ter)
NM_001367561.1(DOCK7):c.4138C>T (p.Arg1380Ter) rs1479675678
NM_001374828.1(ARID1B):c.1293_1311del (p.Gly434fs) rs943407609
NM_001374828.1(ARID1B):c.1492del (p.Ala498fs) rs1417035592
NM_001374828.1(ARID1B):c.1629_1647del (p.Gly544fs) rs1779004027
NM_001374828.1(ARID1B):c.1638_1647del (p.Ala547fs) rs1131691339
NM_001374828.1(ARID1B):c.1641_1651del (p.Gln550fs) rs1131691706
NM_001374828.1(ARID1B):c.1867C>T (p.Gln623Ter) rs1554256703
NM_001374828.1(ARID1B):c.2287G>T (p.Glu763Ter) rs1554294593
NM_001374828.1(ARID1B):c.2359C>T (p.Gln787Ter) rs753933273
NM_001374828.1(ARID1B):c.2411dup (p.Ser806fs) rs1554294674
NM_001374828.1(ARID1B):c.2458C>T (p.Arg820Ter) rs797045272
NM_001374828.1(ARID1B):c.2572C>T (p.Gln858Ter) rs1554298232
NM_001374828.1(ARID1B):c.2603_2606del (p.Arg868fs) rs1085307695
NM_001374828.1(ARID1B):c.2902C>T (p.Arg968Ter) rs794727977
NM_001374828.1(ARID1B):c.3592C>T (p.Arg1198Ter) rs387907144
NM_001374828.1(ARID1B):c.3673C>T (p.Arg1225Ter) rs387907141
NM_001374828.1(ARID1B):c.3904C>T (p.Gln1302Ter) rs1554231904
NM_001374828.1(ARID1B):c.3955dup (p.Gln1319fs) rs1289067120
NM_001374828.1(ARID1B):c.4267C>T (p.Gln1423Ter) rs1554234341
NM_001374828.1(ARID1B):c.4378C>T (p.Arg1460Ter) rs773740590
NM_001374828.1(ARID1B):c.4383-1G>A rs886044620
NM_001374828.1(ARID1B):c.4642dup (p.Tyr1548fs) rs879253746
NM_001374828.1(ARID1B):c.5239C>T (p.Arg1747Ter) rs1554236040
NM_001374828.1(ARID1B):c.5636_5639del (p.Glu1879fs) rs1583513256
NM_001374828.1(ARID1B):c.5707C>T (p.Gln1903Ter) rs750447037
NM_001374828.1(ARID1B):c.5773C>T (p.Arg1925Ter) rs797045282
NM_001374828.1(ARID1B):c.5916dup (p.Ser1974fs) rs35441529
NM_001374828.1(ARID1B):c.5939_5942del (p.Lys1980fs) rs886041706
NM_001374828.1(ARID1B):c.6072dup (p.Lys2025Ter) rs886041878
NM_001374828.1(ARID1B):c.6145C>T (p.Arg2049Ter) rs1554237658
NM_001374828.1(ARID1B):c.6199C>T (p.Arg2067Ter) rs1028186690
NM_001374828.1(ARID1B):c.6337C>T (p.Arg2113Ter) rs797045283
NM_001374828.1(ARID1B):c.6410G>A (p.Trp2137Ter) rs1554237850
NM_001374828.1(ARID1B):c.6691C>T (p.Gln2231Ter) rs1554238035
NM_001374828.1(ARID1B):c.6751C>T (p.Arg2251Ter) rs1554238072
NM_001378454.1(ALMS1):c.3011C>G (p.Ser1004Ter) rs1359874667
NM_001918.5(DBT):c.126T>G (p.Tyr42Ter) rs794727262
NM_001918.5(DBT):c.1385G>C (p.Arg462Pro) rs750594890
NM_001918.5(DBT):c.363_364del (p.Tyr122fs) rs753574354
NM_001918.5(DBT):c.51+1G>T rs398123669
NM_002016.2(FLG):c.10255C>T (p.Arg3419Ter) rs143418984
NM_002016.2(FLG):c.11452C>T (p.Gln3818Ter) rs148606936
NM_002016.2(FLG):c.1830del (p.Arg612fs) rs1570913142
NM_002016.2(FLG):c.2929C>T (p.Gln977Ter) rs144419479
NM_002016.2(FLG):c.2976_2977del (p.Arg992fs) rs776968118
NM_002016.2(FLG):c.3222_3225del (p.Ser1074fs) rs745915174
NM_002016.2(FLG):c.3702del (p.Ser1235fs) rs397507563
NM_002016.2(FLG):c.4420C>T (p.Arg1474Ter) rs146686141
NM_002016.2(FLG):c.487G>T (p.Gly163Ter) rs1214424848
NM_002485.5(NBN):c.1089C>G (p.Tyr363Ter) rs121908974
NM_002485.5(NBN):c.1142del (p.Pro381fs) rs587781969
NM_002485.5(NBN):c.1155dup (p.Val386fs) rs748513310
NM_002485.5(NBN):c.115del (p.Gln39fs) rs864622511
NM_002485.5(NBN):c.1171C>T (p.Gln391Ter) rs1554559323
NM_002485.5(NBN):c.1255_1258del (p.Asn419fs) rs1238152597
NM_002485.5(NBN):c.1336del (p.Ala446fs) rs1554559083
NM_002485.5(NBN):c.1366del (p.Arg456fs) rs1554559038
NM_002485.5(NBN):c.1396dup (p.Arg466fs) rs1349928568
NM_002485.5(NBN):c.1397+1del rs1060503467
NM_002485.5(NBN):c.1399G>T (p.Glu467Ter) rs1554558613
NM_002485.5(NBN):c.1417C>T (p.Gln473Ter) rs755805461
NM_002485.5(NBN):c.1419_1431dup (p.Cys478fs) rs864622333
NM_002485.5(NBN):c.141_142del (p.Leu48fs) rs750375741
NM_002485.5(NBN):c.1474C>T (p.Gln492Ter) rs587782130
NM_002485.5(NBN):c.1483_1484delinsA (p.Pro495fs) rs764884516
NM_002485.5(NBN):c.1502G>A (p.Trp501Ter) rs1554558472
NM_002485.5(NBN):c.1515del (p.Glu505fs) rs759232053
NM_002485.5(NBN):c.156_157del (p.Ser53fs) rs767454740
NM_002485.5(NBN):c.163_171+3del rs1057516772
NM_002485.5(NBN):c.1648_1651del (p.Lys550fs) rs766044684
NM_002485.5(NBN):c.1651dup (p.Arg551fs) rs766044684
NM_002485.5(NBN):c.1723G>T (p.Glu575Ter) rs786201745
NM_002485.5(NBN):c.1747C>T (p.Gln583Ter) rs864622143
NM_002485.5(NBN):c.181_182del (p.Thr60_Asp61insTer) rs768378152
NM_002485.5(NBN):c.1848del (p.Glu617fs) rs1057516611
NM_002485.5(NBN):c.1854_1857del (p.Asn618fs) rs1060503466
NM_002485.5(NBN):c.1882_1885del (p.Glu628fs) rs1178384498
NM_002485.5(NBN):c.188del (p.Ile63fs) rs876659592
NM_002485.5(NBN):c.1974del (p.Glu658fs) rs1057516668
NM_002485.5(NBN):c.210_211del (p.Asp70fs) rs786202494
NM_002485.5(NBN):c.211_212insGA (p.Asn71fs) rs762664474
NM_002485.5(NBN):c.212_215del (p.Asn71fs) rs1064795634
NM_002485.5(NBN):c.2161G>T (p.Glu721Ter) rs1064795816
NM_002485.5(NBN):c.272del (p.Thr90_Leu91insTer) rs1586108633
NM_002485.5(NBN):c.306del (p.Phe102fs) rs587781305
NM_002485.5(NBN):c.317dup (p.Arg107fs) rs745355767
NM_002485.5(NBN):c.445del (p.His149fs) rs1554567892
NM_002485.5(NBN):c.535_537delinsT (p.Glu179fs) rs1554566678
NM_002485.5(NBN):c.55_56del (p.Leu19fs) rs876659305
NM_002485.5(NBN):c.584+2T>C rs1586101154
NM_002485.5(NBN):c.589dup (p.Tyr197fs) rs1586088924
NM_002485.5(NBN):c.591_603delinsTTG (p.Pro198fs) rs1554564297
NM_002485.5(NBN):c.657_661del (p.Lys219fs) rs587776650
NM_002485.5(NBN):c.676del (p.Thr226fs) rs1563561558
NM_002485.5(NBN):c.698_701del (p.Lys233fs) rs587780100
NM_002485.5(NBN):c.737del (p.Gly246fs) rs1811464751
NM_002485.5(NBN):c.741_742dup (p.Glu248fs) rs864309670
NM_002485.5(NBN):c.75dup (p.Val26fs) rs1199711768
NM_002485.5(NBN):c.800dup (p.Thr268fs) rs1554563955
NM_002485.5(NBN):c.808_809del (p.Val270fs) rs786202490
NM_002485.5(NBN):c.817dup (p.Thr273fs) rs730881839
NM_002485.5(NBN):c.83_89del (p.Arg28fs) rs1554569106
NM_002485.5(NBN):c.872dup (p.Ser292fs) rs1563559078
NM_002485.5(NBN):c.88_89del (p.Asn30fs) rs587781718
NM_002485.5(NBN):c.917del (p.Pro306fs) rs1554562185
NM_002485.5(NBN):c.935T>A (p.Leu312Ter) rs371480039
NM_002485.5(NBN):c.93_94del (p.Ala32fs) rs864622253
NM_002485.5(NBN):c.974del (p.Pro325fs) rs1554562110
NM_002485.5(NBN):c.976C>T (p.Gln326Ter) rs121908973
NM_002485.5(NBN):c.995-2A>G rs876659521
NM_002529.4(NTRK1):c.1354+1G>A rs764771898
NM_002529.4(NTRK1):c.1805G>A (p.Arg602Gln) rs1647932465
NM_002529.4(NTRK1):c.1860_1861insT (p.Pro621fs) rs80356676
NM_002529.4(NTRK1):c.526C>T (p.Gln176Ter) rs879253889
NM_002529.4(NTRK1):c.538C>T (p.Gln180Ter) rs1571689751
NM_003060.4(SLC22A5):c.1084del (p.Ser362fs) rs1580892239
NM_003060.4(SLC22A5):c.1252C>T (p.Gln418Ter) rs1057518297
NM_003060.4(SLC22A5):c.1324_1325delinsAT (p.Ala442Ile) rs267607053
NM_003060.4(SLC22A5):c.148del (p.Cys50fs) rs386134227
NM_003060.4(SLC22A5):c.1554del (p.Asp519fs) rs1554088578
NM_003060.4(SLC22A5):c.1556_1559dup (p.Ile521fs) rs386134225
NM_003060.4(SLC22A5):c.160_166dup (p.Ala56fs) rs1057516797
NM_003060.4(SLC22A5):c.235del (p.His79fs) rs377767447
NM_003060.4(SLC22A5):c.254_264dup (p.Ile89fs) rs377767449
NM_003060.4(SLC22A5):c.393+1G>A rs1057517069
NM_003060.4(SLC22A5):c.458_459del (p.Val153fs) rs386134195
NM_003060.4(SLC22A5):c.56G>C (p.Arg19Pro) rs72552723
NM_003060.4(SLC22A5):c.56_57delinsCT (p.Arg19Pro) rs1561560424
NM_003060.4(SLC22A5):c.64TTC[1] (p.Phe23del) rs377767444
NM_003060.4(SLC22A5):c.653-2A>C rs386134201
NM_003060.4(SLC22A5):c.760C>T (p.Arg254Ter) rs121908893
NM_003060.4(SLC22A5):c.83G>T (p.Ser28Ile) rs72552724
NM_003060.4(SLC22A5):c.844del (p.Arg282fs) rs386134209
NM_003742.4(ABCB11):c.2488del (p.Arg830fs) rs756323541
NM_003982.4(SLC7A7):c.713C>T (p.Ser238Phe) rs386833823
NM_004004.6(GJB2):c.355GAG[1] (p.Glu120del) rs80338947
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004006.3(DMD):c.10367del (p.Asn3456fs) rs1556028034
NM_004006.3(DMD):c.3630del (p.Glu1211fs) rs2098315232
NM_004100.5(EYA4):c.1154C>A (p.Ser385Ter) rs2128711268
NM_004453.4(ETFDH):c.1130T>C (p.Leu377Pro) rs387907170
NM_004646.4(NPHS1):c.3250del (p.Val1084fs) rs386833935
NM_004700.4(KCNQ4):c.842T>C (p.Leu281Ser) rs80358278
NM_005373.3(MPL):c.1468+1G>C rs2153919319
NM_005373.3(MPL):c.972del (p.Arg325fs) rs770457041
NM_005633.4(SOS1):c.1294T>C (p.Trp432Arg) rs267607080
NM_005633.4(SOS1):c.1297G>A (p.Glu433Lys) rs397517147
NM_005633.4(SOS1):c.1300G>C (p.Gly434Arg) rs397517148
NM_005633.4(SOS1):c.1322G>A (p.Cys441Tyr) rs727504295
NM_005633.4(SOS1):c.1644T>A (p.Ser548Arg) rs730881045
NM_005633.4(SOS1):c.1649T>C (p.Leu550Pro) rs397517153
NM_005633.4(SOS1):c.2104T>C (p.Tyr702His) rs727505381
NM_005633.4(SOS1):c.797C>A (p.Thr266Lys) rs137852812
NM_005633.4(SOS1):c.806T>G (p.Met269Arg) rs137852813
NM_005633.4(SOS1):c.925G>T (p.Asp309Tyr) rs397517180
NM_006493.2(CLN5):c.116C>A (p.Ser39Ter) rs61504484
NM_006493.4(CLN5):c.1028_1029del (p.Thr342_Tyr343insTer) rs386833969
NM_006493.4(CLN5):c.1067_1068del (p.Ser356fs) rs796052345
NM_006493.4(CLN5):c.112del (p.Val38fs) rs2034190303
NM_006493.4(CLN5):c.187del (p.Arg63fs) rs1555273881
NM_006493.4(CLN5):c.377T>G (p.Leu126Ter) rs386833972
NM_006493.4(CLN5):c.431G>A (p.Cys144Tyr) rs1566219136
NM_006493.4(CLN5):c.438del (p.His148fs) rs1555273992
NM_006493.4(CLN5):c.547C>T (p.Gln183Ter) rs869312751
NM_006493.4(CLN5):c.580C>T (p.Gln194Ter) rs2154035107
NM_006493.4(CLN5):c.77G>A (p.Trp26Ter) rs764790770
NM_006493.4(CLN5):c.78G>A (p.Trp26Ter) rs104894385
NM_006493.4(CLN5):c.812del (p.Asn271fs) rs2154035159
NM_006493.4(CLN5):c.83G>A (p.Trp28Ter) rs1242337070
NM_006493.4(CLN5):c.924_925del (p.Leu309fs) rs386833964
NM_006493.4(CLN5):c.936del (p.Phe312fs) rs386833966
NM_006493.4(CLN5):c.956_959del (p.Lys319fs) rs386833967
NM_006493.4(CLN5):c.990G>A (p.Trp330Ter) rs386833968
NM_006516.4(SLC2A1):c.101A>G (p.Asn34Ser) rs80359812
NM_006516.4(SLC2A1):c.115-2A>C rs2124450950
NM_006516.4(SLC2A1):c.115-2A>G rs2124450950
NM_006516.4(SLC2A1):c.1198C>T (p.Arg400Cys) rs796053263
NM_006516.4(SLC2A1):c.1199G>T (p.Arg400Leu) rs776095655
NM_006516.4(SLC2A1):c.1272T>G (p.Tyr424Ter) rs796053264
NM_006516.4(SLC2A1):c.1296C>A (p.Tyr432Ter) rs75485205
NM_006516.4(SLC2A1):c.18+1G>A rs80359841
NM_006516.4(SLC2A1):c.19-2A>G rs796053272
NM_006516.4(SLC2A1):c.1A>G (p.Met1Val) rs2124478725
NM_006516.4(SLC2A1):c.276-1G>A rs1570593665
NM_006516.4(SLC2A1):c.388G>A (p.Gly130Ser) rs80359819
NM_006516.4(SLC2A1):c.418G>A (p.Val140Met) rs1057517822
NM_006516.4(SLC2A1):c.481C>T (p.Gln161Ter) rs1413339367
NM_006516.4(SLC2A1):c.493G>A (p.Val165Ile) rs1057520545
NM_006516.4(SLC2A1):c.505_507del (p.Leu169del) rs80359832
NM_006516.4(SLC2A1):c.557G>A (p.Trp186Ter) rs1570592933
NM_006516.4(SLC2A1):c.558G>A (p.Trp186Ter) rs2124449417
NM_006516.4(SLC2A1):c.634C>T (p.Arg212Cys) rs387907312
NM_006516.4(SLC2A1):c.634del (p.Arg212fs) rs2124449299
NM_006516.4(SLC2A1):c.667C>T (p.Arg223Trp) rs796053248
NM_006516.4(SLC2A1):c.680-11G>A rs1259158687
NM_006516.4(SLC2A1):c.724C>T (p.Gln242Ter) rs794729221
NM_006516.4(SLC2A1):c.736_739del (p.Glu246fs) rs1570592604
NM_006516.4(SLC2A1):c.739G>T (p.Glu247Ter) rs2124449015
NM_006516.4(SLC2A1):c.742_743del (p.Arg249fs)
NM_006516.4(SLC2A1):c.748C>T (p.Gln250Ter) rs587784396
NM_006516.4(SLC2A1):c.808C>T (p.Gln270Ter) rs1553156053
NM_006516.4(SLC2A1):c.823G>A (p.Ala275Thr) rs121909740
NM_006516.4(SLC2A1):c.835C>T (p.Gln279Ter) rs1553156051
NM_006516.4(SLC2A1):c.844C>T (p.Gln282Ter) rs1057521066
NM_006516.4(SLC2A1):c.847C>T (p.Gln283Ter) rs587784397
NM_006516.4(SLC2A1):c.884C>T (p.Thr295Met) rs80359823
NM_006516.4(SLC2A1):c.939dup (p.Gly314fs) rs886041590
NM_006516.4(SLC2A1):c.940G>A (p.Gly314Ser) rs121909739
NM_006516.4(SLC2A1):c.988C>T (p.Arg330Ter)
NM_006891.4(CRYGD):c.418C>T (p.Arg140Ter) rs1337897299
NM_006912.6(RIT1):c.170C>G (p.Ala57Gly) rs672601334
NM_006912.6(RIT1):c.229G>T (p.Ala77Ser) rs869025191
NM_006912.6(RIT1):c.244T>A (p.Phe82Ile) rs869025194
NM_006912.6(RIT1):c.244T>C (p.Phe82Leu) rs869025194
NM_006912.6(RIT1):c.244T>G (p.Phe82Val) rs869025194
NM_006912.6(RIT1):c.245T>G (p.Phe82Cys) rs868208063
NM_006912.6(RIT1):c.246T>A (p.Phe82Leu) rs730881014
NM_006912.6(RIT1):c.247A>C (p.Thr83Pro) rs869025195
NM_006912.6(RIT1):c.265T>C (p.Tyr89His) rs869025197
NM_006912.6(RIT1):c.268A>G (p.Met90Val)
NM_006912.6(RIT1):c.270G>T (p.Met90Ile) rs483352822
NM_006912.6(RIT1):c.284G>C (p.Gly95Ala) rs672601335
NM_006912.6(RIT1):c.69A>C (p.Lys23Asn) rs1557962794
NM_006939.4(SOS2):c.1127C>G (p.Thr376Ser) rs869320687
NM_006939.4(SOS2):c.800T>A (p.Met267Lys) rs797045167
NM_006939.4(SOS2):c.800T>C (p.Met267Thr) rs797045167
NM_007123.6(USH2A):c.1992dup (p.Lys665Ter) rs730880349
NM_007129.5(ZIC2):c.1095_1096del (p.Cys365_Glu366delinsTer) rs1060499562
NM_007294.4(BRCA1):c.5213G>A (p.Gly1738Glu) rs80357450
NM_007294.4(BRCA1):c.5335del (p.Gln1779fs) rs80357590
NM_012203.2(GRHPR):c.1A>G (p.Met1Val) rs1554746094
NM_012434.5(SLC17A5):c.43G>T (p.Glu15Ter) rs727504157
NM_012434.5(SLC17A5):c.802_816del (p.Ser268_Asn272del) rs386833994
NM_012434.5(SLC17A5):c.819+1G>A rs1057517028
NM_014363.6(SACS):c.10813A>T (p.Lys3605Ter) rs1360298758
NM_014363.6(SACS):c.11265_11266del (p.Ile3755fs) rs1400601705
NM_014363.6(SACS):c.11374C>T (p.Arg3792Ter) rs565203731
NM_014363.6(SACS):c.12622C>T (p.Gln4208Ter) rs1555249555
NM_014363.6(SACS):c.1672C>T (p.Gln558Ter) rs923921184
NM_014363.6(SACS):c.2182C>T (p.Arg728Ter) rs752059006
NM_014363.6(SACS):c.4232T>G (p.Leu1411Ter) rs867249938
NM_014363.6(SACS):c.4933C>T (p.Arg1645Ter) rs770901638
NM_014363.6(SACS):c.5125C>T (p.Gln1709Ter) rs1057517311
NM_014363.6(SACS):c.5151dup (p.Ser1718fs) rs754439135
NM_014363.6(SACS):c.5428C>T (p.Gln1810Ter) rs1868872666
NM_014363.6(SACS):c.5719C>T (p.Arg1907Ter) rs1485209013
NM_014363.6(SACS):c.6355C>T (p.Arg2119Ter) rs766711286
NM_014363.6(SACS):c.6434T>A (p.Leu2145Ter) rs770490672
NM_014363.6(SACS):c.699del (p.Asp235fs) rs1415870785
NM_014363.6(SACS):c.7276C>T (p.Arg2426Ter) rs786204750
NM_014363.6(SACS):c.8793del (p.Lys2931fs) rs767871841
NM_014363.6(SACS):c.8793dup (p.Arg2932fs) rs767871841
NM_014363.6(SACS):c.961C>T (p.Arg321Ter) rs1175545518
NM_014495.4(ANGPTL3):c.363_367del (p.Asn121fs) rs398122988
NM_014625.4(NPHS2):c.104dup (p.Arg36fs) rs1320543506
NM_014625.4(NPHS2):c.353C>T (p.Pro118Leu) rs869025495
NM_014625.4(NPHS2):c.397del (p.Arg133fs) rs1481262338
NM_014625.4(NPHS2):c.419del (p.Gly140fs) rs749779208
NM_014625.4(NPHS2):c.436del (p.Arg146fs) rs778201387
NM_014795.4(ZEB2):c.1027C>T (p.Arg343Ter) rs786204815
NM_014795.4(ZEB2):c.1102C>T (p.Gln368Ter) rs886041338
NM_014795.4(ZEB2):c.1381C>T (p.Gln461Ter) rs398124274
NM_014795.4(ZEB2):c.1426dup (p.Met476fs) rs587776604
NM_014795.4(ZEB2):c.1956C>A (p.Tyr652Ter) rs587784563
NM_014795.4(ZEB2):c.2083C>T (p.Arg695Ter) rs137852981
NM_014795.4(ZEB2):c.2501del (p.Lys834fs) rs587784565
NM_014795.4(ZEB2):c.2761C>T (p.Arg921Ter) rs587784566
NM_014795.4(ZEB2):c.2894T>A (p.Leu965Ter) rs797046120
NM_014795.4(ZEB2):c.289del (p.Trp97fs) rs727503784
NM_014795.4(ZEB2):c.643_659del (p.Tyr215fs) rs398124281
NM_014795.4(ZEB2):c.674C>A (p.Ser225Ter) rs797046122
NM_014795.4(ZEB2):c.73+2T>C rs398124282
NM_014795.4(ZEB2):c.823C>T (p.Gln275Ter) rs587784570
NM_014795.4(ZEB2):c.904C>T (p.Arg302Ter) rs587784571
NM_014874.4(MFN2):c.280C>T (p.Arg94Trp) rs119103263
NM_015046.7(SETX):c.1166T>C (p.Leu389Ser) rs29001584
NM_015046.7(SETX):c.2387_2390del (p.Lys796fs) rs745775419
NM_015046.7(SETX):c.4816C>T (p.Arg1606Ter) rs759213174
NM_015100.4(POGZ):c.1180_1181del (p.Met394fs) rs1057518170
NM_015100.4(POGZ):c.1522C>T (p.Arg508Ter) rs1557901051
NM_015100.4(POGZ):c.1608C>A (p.Tyr536Ter) rs1553223544
NM_015100.4(POGZ):c.2092C>T (p.Arg698Ter) rs1654081712
NM_015100.4(POGZ):c.2321_2324del (p.Ser774fs) rs864321671
NM_015100.4(POGZ):c.2350C>T (p.Arg784Ter) rs886041669
NM_015100.4(POGZ):c.2646_2647del (p.Asn882fs) rs1553213060
NM_015100.4(POGZ):c.2935C>T (p.Arg979Ter) rs864321674
NM_015100.4(POGZ):c.3001C>T (p.Arg1001Ter) rs869312833
NM_015100.4(POGZ):c.712C>T (p.Arg238Ter) rs1557910873
NM_015506.3(MMACHC):c.187del (p.Leu63fs) rs1343936481
NM_015506.3(MMACHC):c.328_331del (p.Asn110fs) rs796052000
NM_015506.3(MMACHC):c.352del (p.Gln118fs) rs749264632
NM_015506.3(MMACHC):c.445_446del (p.Cys149fs) rs796051999
NM_015506.3(MMACHC):c.500del (p.Pro167fs) rs1553162918
NM_015506.3(MMACHC):c.547_548del (p.Val183fs) rs1305170860
NM_015506.3(MMACHC):c.578T>C (p.Leu193Pro) rs1233135084
NM_015506.3(MMACHC):c.615C>G (p.Tyr205Ter) rs747527726
NM_015506.3(MMACHC):c.626dup (p.Thr210fs) rs1570833527
NM_015506.3(MMACHC):c.658_660del (p.Lys220del) rs398124296
NM_015627.3(LDLRAP1):c.143del (p.Phe48fs) rs868193249
NM_015627.3(LDLRAP1):c.460-1G>A rs2124688583
NM_015627.3(LDLRAP1):c.603dup (p.Ser202fs) rs781585299
NM_015627.3(LDLRAP1):c.65G>A (p.Trp22Ter) rs121908324
NM_015627.3(LDLRAP1):c.71del (p.Gly24fs) rs1201229554
NM_015627.3(LDLRAP1):c.89-1G>C rs755104973
NM_018122.5(DARS2):c.787C>T (p.Arg263Ter) rs121918206
NM_018122.5(DARS2):c.796C>T (p.Arg266Ter)
NM_018136.5(ASPM):c.1138C>T (p.Gln380Ter) rs587783215
NM_018136.5(ASPM):c.1154_1155del (p.Glu385fs) rs199422137
NM_018136.5(ASPM):c.1179del (p.Asn394fs) rs199422138
NM_018136.5(ASPM):c.1726_1727del (p.Lys576fs) rs1057518268
NM_018136.5(ASPM):c.1896_1897del (p.Lys633fs) rs1170413397
NM_018136.5(ASPM):c.1959_1962del (p.Asn653fs) rs199422147
NM_018136.5(ASPM):c.2389C>T (p.Arg797Ter) rs145489194
NM_018136.5(ASPM):c.3945_3946del (p.Arg1315fs) rs587783240
NM_018136.5(ASPM):c.3978G>A (p.Trp1326Ter) rs137852995
NM_018136.5(ASPM):c.4363G>T (p.Glu1455Ter) rs1057520873
NM_018136.5(ASPM):c.4728_4729del (p.Arg1576fs) rs587783245
NM_018136.5(ASPM):c.4795C>T (p.Arg1599Ter) rs199422165
NM_018136.5(ASPM):c.5196T>A (p.Cys1732Ter) rs587783247
NM_018136.5(ASPM):c.5233C>T (p.Arg1745Ter) rs587783248
NM_018136.5(ASPM):c.5681_5685del (p.Ile1894fs) rs886041282
NM_018136.5(ASPM):c.6082C>T (p.Gln2028Ter) rs1553223496
NM_018136.5(ASPM):c.6337_6338del (p.Ile2113fs) rs199422169
NM_018136.5(ASPM):c.637del (p.Ile213fs) rs587783258
NM_018136.5(ASPM):c.6686_6689del (p.Arg2229fs) rs770540184
NM_018136.5(ASPM):c.6994C>T (p.Arg2332Ter) rs1451306414
NM_018136.5(ASPM):c.7325_7332dup (p.Ile2445fs) rs758549961
NM_018136.5(ASPM):c.7782_7783del (p.Lys2595fs) rs199422173
NM_018136.5(ASPM):c.7783_7786del (p.Lys2595fs) rs763800571
NM_018136.5(ASPM):c.8133_8136del (p.Lys2712fs) rs587783278
NM_018136.5(ASPM):c.8266C>T (p.Gln2756Ter) rs763909256
NM_018136.5(ASPM):c.9091C>T (p.Arg3031Ter) rs587783287
NM_018136.5(ASPM):c.9961C>T (p.Gln3321Ter) rs1482100822
NM_018489.3(ASH1L):c.7603C>T (p.Arg2535Ter)
NM_019032.6(ADAMTSL4):c.2270dup (p.Gly758fs) rs747160538
NM_019032.6(ADAMTSL4):c.767_786del (p.Gln256fs) rs199473693
NM_020365.5(EIF2B3):c.674G>C (p.Arg225Pro) rs113994024
NM_020366.4(RPGRIP1):c.1107del (p.Glu370fs) rs61751266
NM_020366.4(RPGRIP1):c.2368-2A>G rs1064797182
NM_020366.4(RPGRIP1):c.2465_2468dup (p.Ala824fs) rs745741473
NM_020366.4(RPGRIP1):c.2718dup (p.Asn907Ter) rs776289402
NM_020366.4(RPGRIP1):c.2941C>T (p.Arg981Ter) rs780667159
NM_020366.4(RPGRIP1):c.3618-1_3621del rs1594280740
NM_020366.4(RPGRIP1):c.673del (p.His225fs) rs752263228
NM_020699.4(GATAD2B):c.1429C>T (p.Gln477Ter) rs1553187443
NM_020699.4(GATAD2B):c.346C>T (p.Arg116Ter) rs886041621
NM_020699.4(GATAD2B):c.520C>T (p.Arg174Ter) rs1674577139
NM_020699.4(GATAD2B):c.535C>T (p.Arg179Ter) rs1553188463
NM_020699.4(GATAD2B):c.658C>T (p.Gln220Ter) rs1057520600
NM_020699.4(GATAD2B):c.918del (p.Pro307fs) rs1064793829
NM_020699.4(GATAD2B):c.973C>T (p.Gln325Ter) rs1064794066
NM_022132.5(MCCC2):c.538C>T (p.Arg180Ter) rs780011606
NM_022356.4(P3H1):c.1102C>T (p.Arg368Ter) rs118203996
NM_022356.4(P3H1):c.1346-1G>C rs886042897
NM_022356.4(P3H1):c.2154dup (p.Glu719fs) rs752671524
NM_022356.4(P3H1):c.232del (p.Gln78fs) rs137853948
NM_022356.4(P3H1):c.838C>T (p.Gln280Ter) rs1652551021
NM_022455.5(NSD1):c.1492C>T (p.Arg498Ter) rs1581315609
NM_022455.5(NSD1):c.1810C>T (p.Arg604Ter) rs587784076
NM_022455.5(NSD1):c.1831C>T (p.Arg611Ter) rs587784077
NM_022455.5(NSD1):c.2049_2053del (p.Ile684fs) rs587784080
NM_022455.5(NSD1):c.2362C>T (p.Arg788Ter) rs1057520339
NM_022455.5(NSD1):c.2386_2389del (p.Glu796fs) rs587784086
NM_022455.5(NSD1):c.2672_2676del (p.Ser891fs) rs1131691754
NM_022455.5(NSD1):c.2760_2763del (p.Ser920fs) rs1064794051
NM_022455.5(NSD1):c.2954_2955del (p.Ser985fs) rs587784092
NM_022455.5(NSD1):c.3004_3005del (p.Lys1002fs) rs1554189941
NM_022455.5(NSD1):c.3067C>T (p.Arg1023Ter) rs587784095
NM_022455.5(NSD1):c.3091C>T (p.Arg1031Ter) rs587784096
NM_022455.5(NSD1):c.3214C>T (p.Arg1072Ter) rs587784098
NM_022455.5(NSD1):c.3383_3384del (p.Ser1128fs) rs587784101
NM_022455.5(NSD1):c.3549dup (p.Glu1184Ter) rs797045813
NM_022455.5(NSD1):c.3659_3660del (p.Glu1220fs) rs587784104
NM_022455.5(NSD1):c.3839G>A (p.Trp1280Ter) rs587784105
NM_022455.5(NSD1):c.3958C>T (p.Arg1320Ter) rs121908070
NM_022455.5(NSD1):c.3964C>T (p.Arg1322Ter) rs587784107
NM_022455.5(NSD1):c.4192+2T>G rs587784111
NM_022455.5(NSD1):c.4217_4220del (p.Arg1406fs) rs794727930
NM_022455.5(NSD1):c.4301del (p.Lys1434fs) rs587784112
NM_022455.5(NSD1):c.4378+1G>A rs587784115
NM_022455.5(NSD1):c.4411C>T (p.Arg1471Ter) rs570278338
NM_022455.5(NSD1):c.4417C>T (p.Arg1473Ter) rs587784117
NM_022455.5(NSD1):c.4753G>T (p.Glu1585Ter) rs587784126
NM_022455.5(NSD1):c.5020del (p.Cys1674fs) rs1581468355
NM_022455.5(NSD1):c.5098C>T (p.Arg1700Ter) rs587784137
NM_022455.5(NSD1):c.5146+1G>A rs587784139
NM_022455.5(NSD1):c.5279_5282del (p.Val1760fs) rs398124379
NM_022455.5(NSD1):c.5303+1G>C rs587784141
NM_022455.5(NSD1):c.5304-1G>C rs863224905
NM_022455.5(NSD1):c.5309G>A (p.Trp1770Ter) rs587784142
NM_022455.5(NSD1):c.5332C>T (p.Arg1778Ter) rs794727176
NM_022455.5(NSD1):c.5431C>T (p.Arg1811Ter) rs587784148
NM_022455.5(NSD1):c.5581C>T (p.Arg1861Ter) rs886041218
NM_022455.5(NSD1):c.5618_5619del (p.Ile1873fs) rs587784152
NM_022455.5(NSD1):c.5885T>C (p.Ile1962Thr) rs587784162
NM_022455.5(NSD1):c.5950C>T (p.Arg1984Ter) rs797045057
NM_022455.5(NSD1):c.5951G>A (p.Arg1984Gln) rs587784169
NM_022455.5(NSD1):c.5965C>T (p.Gln1989Ter) rs587784170
NM_022455.5(NSD1):c.5989T>C (p.Tyr1997His) rs587784171
NM_022455.5(NSD1):c.6013C>T (p.Arg2005Ter) rs587784173
NM_022455.5(NSD1):c.6049C>T (p.Arg2017Trp) rs587784176
NM_022455.5(NSD1):c.6059A>G (p.Asn2020Ser) rs587784178
NM_022455.5(NSD1):c.6070C>T (p.Gln2024Ter) rs587784179
NM_022455.5(NSD1):c.6349C>T (p.Arg2117Ter) rs587784190
NM_022455.5(NSD1):c.6421del (p.Val2141fs) rs587784197
NM_022455.5(NSD1):c.6426C>G (p.Tyr2142Ter) rs1060501493
NM_022455.5(NSD1):c.6437dup (p.Cys2146fs) rs1554206836
NM_022455.5(NSD1):c.6454C>T (p.Arg2152Ter) rs587784199
NM_022455.5(NSD1):c.6559C>T (p.Arg2187Ter) rs587784209
NM_024301.5(FKRP):c.948del (p.Cys317fs) rs748798133
NM_024306.5(FA2H):c.131del (p.Pro44fs) rs2144672539
NM_024312.5(GNPTAB):c.3503_3504del (p.Leu1168fs) rs34002892
NM_025099.6(CTC1):c.248_251dup (p.His84fs) rs745467709
NM_025099.6(CTC1):c.2831del (p.Pro944fs) rs199473677
NM_025099.6(CTC1):c.3019del (p.Leu1007fs)
NM_025099.6(CTC1):c.724_727del (p.Lys242fs) rs199473674
NM_025114.4(CEP290):c.164_167del (p.Thr55fs) rs758550675
NM_025114.4(CEP290):c.2390del (p.Lys797fs) rs781670422
NM_025137.3(SPG11):c.5456_5457del (p.Glu1819Alafs) rs312262764
NM_025137.4(SPG11):c.1203del (p.Asp402fs) rs312262722
NM_025137.4(SPG11):c.1471_1472del (p.Leu491fs) rs312262727
NM_025137.4(SPG11):c.1818_1819del (p.Ser607fs) rs1220982145
NM_025137.4(SPG11):c.1837_1838insA (p.Leu613fs) rs312262735
NM_025137.4(SPG11):c.202_203dup (p.Leu68fs) rs773773579
NM_025137.4(SPG11):c.2163dup (p.Ile722fs) rs312262738
NM_025137.4(SPG11):c.2265del (p.Gln755fs) rs1215058780
NM_025137.4(SPG11):c.267G>A (p.Trp89Ter) rs312262709
NM_025137.4(SPG11):c.2716del (p.Gln906fs) rs312262747
NM_025137.4(SPG11):c.276_285del (p.Arg93fs) rs747220413
NM_025137.4(SPG11):c.2849del (p.Leu950fs) rs1470463921
NM_025137.4(SPG11):c.3075dup (p.Glu1026fs) rs312262752
NM_025137.4(SPG11):c.3311dup (p.Asn1104fs) rs753257469
NM_025137.4(SPG11):c.3321_3324del (p.Asn1106_Cys1107insTer) rs768131119
NM_025137.4(SPG11):c.3711dup (p.Tyr1238fs) rs750663981
NM_025137.4(SPG11):c.442+1G>C rs312262715
NM_025137.4(SPG11):c.5093T>A (p.Leu1698Ter) rs1462607878
NM_025137.4(SPG11):c.529_533del (p.Ile177fs) rs312262716
NM_025137.4(SPG11):c.5769del (p.Ser1923fs) rs312262770
NM_025137.4(SPG11):c.5769dup (p.Met1924fs) rs1595842556
NM_025137.4(SPG11):c.5842dup (p.Ile1948fs) rs1555448810
NM_025137.4(SPG11):c.6091C>T (p.Arg2031Ter) rs147713329
NM_025137.4(SPG11):c.6451del (p.Ala2151fs) rs312262779
NM_025137.4(SPG11):c.6739_6742del (p.Glu2247fs) rs312262782
NM_025137.4(SPG11):c.6832_6833del (p.Ser2278fs) rs312262784
NM_025137.4(SPG11):c.7155T>A (p.Tyr2385Ter) rs778305085
NM_025137.4(SPG11):c.869+1G>A rs312262721
NM_032520.4(GNPTG):c.499dup (p.Leu167Profs) rs756959430
NM_032520.5(GNPTG):c.234-1G>A rs112850896
NM_032520.5(GNPTG):c.318-1G>A rs193302847
NM_032520.5(GNPTG):c.607dup (p.Gln203fs) rs756225251
NM_032861.4(SERAC1):c.438del (p.Thr147fs) rs1583595091
NM_133433.4(NIPBL):c.133C>T (p.Arg45Ter) rs80358367
NM_133433.4(NIPBL):c.1660C>T (p.Gln554Ter) rs1580394197
NM_133433.4(NIPBL):c.1885C>T (p.Arg629Ter) rs587783892
NM_133433.4(NIPBL):c.2464_2467del (p.Gln822fs) rs1554017345
NM_133433.4(NIPBL):c.2479_2480del (p.Arg827fs) rs398124465
NM_133433.4(NIPBL):c.2500C>T (p.Arg834Ter) rs587783907
NM_133433.4(NIPBL):c.2602C>T (p.Arg868Ter) rs398124466
NM_133433.4(NIPBL):c.3060_3063del (p.Glu1021fs) rs587783914
NM_133433.4(NIPBL):c.3445C>T (p.Arg1149Ter) rs80358374
NM_133433.4(NIPBL):c.4321G>T (p.Val1441Leu) rs727503769
NM_133433.4(NIPBL):c.4593T>G (p.Tyr1531Ter) rs587783952
NM_133433.4(NIPBL):c.4787_4791del (p.Gln1595_Phe1596insTer) rs886041810
NM_133433.4(NIPBL):c.5167C>T (p.Arg1723Ter) rs121918267
NM_133433.4(NIPBL):c.5262C>A (p.Cys1754Ter) rs1554025252
NM_133433.4(NIPBL):c.5329-15A>G rs587783968
NM_133433.4(NIPBL):c.5440C>T (p.Arg1814Ter) rs80358362
NM_133433.4(NIPBL):c.5455C>T (p.Arg1819Ter) rs587783975
NM_133433.4(NIPBL):c.5483G>A (p.Arg1828Gln) rs587783978
NM_133433.4(NIPBL):c.5509C>T (p.Arg1837Ter) rs1554025780
NM_133433.4(NIPBL):c.64+1G>A rs587784009
NM_133433.4(NIPBL):c.6892C>T (p.Arg2298Cys) rs80358376
NM_133433.4(NIPBL):c.7219C>T (p.Arg2407Ter) rs398124471
NM_133433.4(NIPBL):c.7327C>T (p.Gln2443Ter) rs80358370
NM_133433.4(NIPBL):c.7439_7440del (p.Arg2480fs) rs587784043
NM_133433.4(NIPBL):c.771+1G>A rs587784048
NM_133433.4(NIPBL):c.7789del (p.Leu2597fs) rs80358368
NM_133433.4(NIPBL):c.8377C>T (p.Arg2793Ter) rs398124474
NM_133433.4(NIPBL):c.86del (p.Pro29fs) rs587784060
NM_138694.4(PKHD1):c.881-1G>A rs1554220431
NM_152281.3(GORAB):c.103C>T (p.Arg35Ter)
NM_153700.2(STRC):c.4251del (p.Leu1417_Leu1418insTer) rs1366021609
NM_182760.4(SUMF1):c.191C>A (p.Ser64Ter) rs1421066733
NM_182760.4(SUMF1):c.542T>G (p.Leu181Ter) rs1553575867
NM_182760.4(SUMF1):c.691dup (p.Trp231fs) rs748337915
NM_182760.4(SUMF1):c.785A>G (p.Gln262Arg) rs1064793391
NM_183050.4(BCKDHB):c.1065del (p.Pro356fs) rs869312129
NM_183050.4(BCKDHB):c.1114G>T (p.Glu372Ter) rs386834234
NM_183050.4(BCKDHB):c.1149T>A (p.Tyr383Ter) rs190867671
NM_183050.4(BCKDHB):c.275-2A>G rs1554184224
NM_183050.4(BCKDHB):c.331C>T (p.Arg111Ter) rs371117671
NM_183050.4(BCKDHB):c.342T>G (p.Tyr114Ter) rs398124573
NM_183050.4(BCKDHB):c.348del (p.Asp117fs) rs1400121541
NM_183050.4(BCKDHB):c.368del (p.Pro123fs) rs1085307058
NM_183050.4(BCKDHB):c.487G>T (p.Glu163Ter) rs1057516799
NM_183050.4(BCKDHB):c.496A>T (p.Lys166Ter) rs1772735425
NM_183050.4(BCKDHB):c.595_596del (p.Ser199_Pro200insTer) rs398124587
NM_183050.4(BCKDHB):c.633+1G>T rs398124589
NM_183050.4(BCKDHB):c.748G>T (p.Glu250Ter) rs398124592
NM_183050.4(BCKDHB):c.840+2T>G rs398124596
NM_183050.4(BCKDHB):c.93_103del (p.Ala32fs) rs398124601
NM_201253.3(CRB1):c.1125C>G (p.Tyr375Ter) rs1660515780
NM_201253.3(CRB1):c.1182C>A (p.Cys394Ter) rs115352681
NM_201253.3(CRB1):c.134_135del (p.Thr44_Cys45insTer) rs2125303672
NM_201253.3(CRB1):c.1381C>T (p.Gln461Ter) rs1664292210
NM_201253.3(CRB1):c.1431del (p.Ser478fs) rs1553260321
NM_201253.3(CRB1):c.1772_1775del (p.Cys591fs) rs1664325377
NM_201253.3(CRB1):c.2042G>A (p.Cys681Tyr) rs62636266
NM_201253.3(CRB1):c.20_23del (p.Asn7fs) rs2125193925
NM_201253.3(CRB1):c.2230C>T (p.Arg744Ter) rs150412614
NM_201253.3(CRB1):c.2533_2539del (p.Gly845fs) rs745348555
NM_201253.3(CRB1):c.257_258dup (p.Asn87Ter) rs62636260
NM_201253.3(CRB1):c.2842T>C (p.Cys948Arg) rs62645747
NM_201253.3(CRB1):c.3014A>T (p.Asp1005Val) rs369184026
NM_201253.3(CRB1):c.3172G>T (p.Glu1058Ter) rs564754426
NM_201253.3(CRB1):c.3427del (p.Cys1143fs) rs2125500431
NM_201253.3(CRB1):c.3451G>T (p.Gly1151Ter) rs1558138741
NM_201253.3(CRB1):c.3462_3463del (p.Cys1154_Glu1155delinsTer) rs1571557864
NM_201253.3(CRB1):c.3713_3716dup (p.Cys1240fs) rs1366609497
NM_201253.3(CRB1):c.3862G>A (p.Gly1288Ser) rs2125506459
NM_201253.3(CRB1):c.3878G>A (p.Trp1293Ter) rs1665282478
NM_201253.3(CRB1):c.3996C>A (p.Cys1332Ter) rs1665487563
NM_201253.3(CRB1):c.4005+1G>A rs890453675
NM_201253.3(CRB1):c.4006-1G>T rs752804194
NM_201253.3(CRB1):c.4121_4130del (p.Ala1374fs) rs281865175
NM_201253.3(CRB1):c.4142C>T (p.Pro1381Leu) rs1667264651
NM_201253.3(CRB1):c.57dup (p.Ile20fs) rs1343680080
NM_201253.3(CRB1):c.613_619del (p.Ile205fs) rs62645752
NM_201253.3(CRB1):c.652+1G>A rs2125304900
NM_201253.3(CRB1):c.653-1G>A rs760287363
NM_201253.3(CRB1):c.663_664del (p.Cys221_Glu222delinsTer) rs778731851
NM_201253.3(CRB1):c.71delA
NM_201253.3(CRB1):c.799_800delinsA (p.Ala267fs) rs886043587
NM_201253.3(CRB1):c.984G>A (p.Trp328Ter) rs1571878277
NM_206933.4(USH2A):c.10190_10191del (p.Lys3397fs) rs397517964
NM_206933.4(USH2A):c.10331G>A (p.Cys3444Tyr)
NM_206933.4(USH2A):c.10388-1G>A rs1553261478
NM_206933.4(USH2A):c.10612C>T (p.Arg3538Ter) rs878853413
NM_206933.4(USH2A):c.10699del (p.Gln3566_Leu3567insTer) rs1661659605
NM_206933.4(USH2A):c.11065C>T (p.Arg3689Ter) rs41314534
NM_206933.4(USH2A):c.11095G>T (p.Glu3699Ter) rs755804518
NM_206933.4(USH2A):c.11235C>A (p.Tyr3745Ter) rs768062696
NM_206933.4(USH2A):c.11389+1G>A rs368770647
NM_206933.4(USH2A):c.11411del (p.Pro3804fs) rs397517973
NM_206933.4(USH2A):c.1143+1G>A rs397517974
NM_206933.4(USH2A):c.1144-2A>T rs2037686445
NM_206933.4(USH2A):c.11440G>T (p.Gly3814Ter) rs727505337
NM_206933.4(USH2A):c.11548+2T>G rs1371160062
NM_206933.4(USH2A):c.11549-1G>A rs878853407
NM_206933.4(USH2A):c.11816_11822dup (p.Val3942fs) rs1659891151
NM_206933.4(USH2A):c.1214del (p.Asn405fs) rs750228923
NM_206933.4(USH2A):c.12234_12235del (p.Asn4079fs) rs398124618
NM_206933.4(USH2A):c.1226G>A (p.Trp409Ter) rs2037682180
NM_206933.4(USH2A):c.12333dup (p.Gly4112fs) rs1657996197
NM_206933.4(USH2A):c.12703C>T (p.Gln4235Ter) rs1657976232
NM_206933.4(USH2A):c.12714T>G (p.Tyr4238Ter) rs397517981
NM_206933.4(USH2A):c.12819T>A (p.Tyr4273Ter) rs1362058696
NM_206933.4(USH2A):c.12868C>T (p.Gln4290Ter) rs397517983
NM_206933.4(USH2A):c.12954C>A (p.Tyr4318Ter) rs762159022
NM_206933.4(USH2A):c.13040_13062delinsTCAGAAGTCA (p.Thr4347fs) rs1657950450
NM_206933.4(USH2A):c.1312_1327dup (p.Asn443fs) rs1415157305
NM_206933.4(USH2A):c.13207_13208del (p.Gly4403fs) rs746447649
NM_206933.4(USH2A):c.13335_13343del (p.Glu4445_Met4447del) rs111033408
NM_206933.4(USH2A):c.13374del (p.Glu4458fs) rs727503715
NM_206933.4(USH2A):c.13465G>A (p.Gly4489Ser) rs1293619630
NM_206933.4(USH2A):c.13599del (p.Met4535fs) rs2102664886
NM_206933.4(USH2A):c.14031dup (p.Ala4678fs) rs397517988
NM_206933.4(USH2A):c.14131C>T (p.Gln4711Ter) rs747063294
NM_206933.4(USH2A):c.14225_14232dup (p.Val4745fs) rs1657036615
NM_206933.4(USH2A):c.14248C>T (p.Gln4750Ter) rs727504867
NM_206933.4(USH2A):c.14365C>T (p.Gln4789Ter) rs1571929573
NM_206933.4(USH2A):c.14650G>T (p.Glu4884Ter) rs948087886
NM_206933.4(USH2A):c.14698C>T (p.Gln4900Ter) rs1553250072
NM_206933.4(USH2A):c.14977_14978del (p.Phe4993fs) rs747160949
NM_206933.4(USH2A):c.15089C>A (p.Ser5030Ter) rs758660532
NM_206933.4(USH2A):c.1521_1522delinsAT (p.Tyr507_Ala508delinsTer) rs1571701069
NM_206933.4(USH2A):c.1645-2A>G
NM_206933.4(USH2A):c.1679del (p.Pro560fs) rs773539640
NM_206933.4(USH2A):c.1824dup (p.Glu609Ter) rs2037013894
NM_206933.4(USH2A):c.2023C>T (p.Gln675Ter) rs868562952
NM_206933.4(USH2A):c.2035G>T (p.Gly679Ter) rs367693972
NM_206933.4(USH2A):c.2073C>A (p.Cys691Ter) rs376674482
NM_206933.4(USH2A):c.2293C>T (p.Gln765Ter) rs777629750
NM_206933.4(USH2A):c.236_239dup (p.Gln81fs) rs1553258097
NM_206933.4(USH2A):c.2391_2392del (p.Cys797_Asp798delinsTer) rs2036063892
NM_206933.4(USH2A):c.2809+1G>A rs759433119
NM_206933.4(USH2A):c.2898del (p.Thr967fs) rs397518008
NM_206933.4(USH2A):c.3187_3188del (p.Gln1063fs) rs886039450
NM_206933.4(USH2A):c.3381del (p.Thr1128fs) rs2034948574
NM_206933.4(USH2A):c.3730C>T (p.Gln1244Ter)
NM_206933.4(USH2A):c.3920C>G (p.Ser1307Ter) rs756623509
NM_206933.4(USH2A):c.4046del (p.Ser1349fs) rs2034899784
NM_206933.4(USH2A):c.4133_4134dup (p.Asn1379fs) rs397518015
NM_206933.4(USH2A):c.4217C>A (p.Ser1406Ter) rs1308702971
NM_206933.4(USH2A):c.4222C>T (p.Gln1408Ter) rs746551311
NM_206933.4(USH2A):c.4405C>T (p.Gln1469Ter) rs797045113
NM_206933.4(USH2A):c.4707T>G (p.Tyr1569Ter) rs2032459600
NM_206933.4(USH2A):c.4758+1G>A
NM_206933.4(USH2A):c.4933G>T (p.Gly1645Ter) rs2032147505
NM_206933.4(USH2A):c.5356C>T (p.Gln1786Ter) rs2102554503
NM_206933.4(USH2A):c.545_546del (p.Lys182fs) rs780779563
NM_206933.4(USH2A):c.5506C>A (p.Pro1836Thr) rs755032078
NM_206933.4(USH2A):c.5614delinsTTAACTTGGCAT (p.Ala1872fs) rs869312180
NM_206933.4(USH2A):c.5737G>T (p.Glu1913Ter) rs762837293
NM_206933.4(USH2A):c.6127_6128dup (p.Ser2043fs) rs2030619513
NM_206933.4(USH2A):c.612dup (p.Arg205fs) rs2039614529
NM_206933.4(USH2A):c.6657+1G>A rs1571876788
NM_206933.4(USH2A):c.6904_6920dup (p.Gln2307fs) rs1667472317
NM_206933.4(USH2A):c.6905del (p.His2302fs) rs2102458388
NM_206933.4(USH2A):c.7027del (p.Arg2343fs) rs1667316878
NM_206933.4(USH2A):c.7168G>T (p.Gly2390Ter) rs376983577
NM_206933.4(USH2A):c.7244C>G (p.Ser2415Ter) rs397518029
NM_206933.4(USH2A):c.7454T>A (p.Leu2485Ter) rs2102469649
NM_206933.4(USH2A):c.7475C>A (p.Ser2492Ter) rs483353056
NM_206933.4(USH2A):c.7524del (p.Arg2509fs) rs751176116
NM_206933.4(USH2A):c.775_776del (p.Ser259fs) rs2038566220
NM_206933.4(USH2A):c.7999G>T (p.Glu2667Ter) rs1301139848
NM_206933.4(USH2A):c.8079G>A (p.Trp2693Ter) rs1553273330
NM_206933.4(USH2A):c.8083A>T (p.Lys2695Ter) rs775921966
NM_206933.4(USH2A):c.8089G>T (p.Glu2697Ter) rs1558146243
NM_206933.4(USH2A):c.8126_8127dup (p.Asn2710fs) rs768367348
NM_206933.4(USH2A):c.820C>G (p.Arg274Gly) rs397518036
NM_206933.4(USH2A):c.820C>T (p.Arg274Ter) rs397518036
NM_206933.4(USH2A):c.852_853del rs1188025733
NM_206933.4(USH2A):c.8618T>G (p.Leu2873Ter) rs2102450764
NM_206933.4(USH2A):c.8681+2T>C rs2102450642
NM_206933.4(USH2A):c.920_923dup (p.His308fs) rs397518043
NM_206933.4(USH2A):c.9270C>A (p.Cys3090Ter) rs779572631
NM_206933.4(USH2A):c.9459C>A (p.Cys3153Ter) rs73090721
NM_206933.4(USH2A):c.9473del (p.Lys3158fs) rs2102796411
NM_206933.4(USH2A):c.9538del (p.Cys3180fs) rs36108227
NM_206933.4(USH2A):c.9874C>T (p.Gln3292Ter) rs2102778615
NM_206933.4(USH2A):c.98C>A (p.Ser33Ter) rs2039690812
NM_206933.4(USH2A):c.999_1000dup (p.Arg334fs) rs1571703770

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