ClinVar Miner

List of variants reported as uncertain significance for Spastic paraplegia by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2681
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HGVS dbSNP gnomAD frequency
NM_007347.5(AP4E1):c.1276A>C (p.Ile426Leu) rs148817957 0.00109
NM_020435.4(GJC2):c.1234C>T (p.His412Tyr) rs200334298 0.00096
NM_020944.3(GBA2):c.1552C>T (p.Arg518Trp) rs142883889 0.00081
NM_001012301.4(ARSI):c.1114G>A (p.Asp372Asn) rs150211860 0.00068
NM_015346.4(ZFYVE26):c.5401G>A (p.Ala1801Thr) rs138965635 0.00056
NM_004820.5(CYP7B1):c.530C>T (p.Thr177Met) rs145152682 0.00054
NM_183075.3(CYP2U1):c.1397G>A (p.Arg466Gln) rs143952943 0.00054
NM_007347.5(AP4E1):c.613C>A (p.His205Asn) rs148499164 0.00052
NM_001478.5(B4GALNT1):c.728A>G (p.Glu243Gly) rs149670131 0.00051
NM_020944.3(GBA2):c.2220C>A (p.Ser740Arg) rs200894732 0.00051
NM_020435.4(GJC2):c.1123G>A (p.Val375Ile) rs554468010 0.00050
NM_015346.4(ZFYVE26):c.5260G>A (p.Ala1754Thr) rs146968463 0.00045
NM_015346.4(ZFYVE26):c.6448C>T (p.Pro2150Ser) rs138423670 0.00042
NM_001012301.4(ARSI):c.1502C>T (p.Pro501Leu) rs138543631 0.00039
NM_015346.4(ZFYVE26):c.2300G>A (p.Arg767His) rs146290086 0.00037
NM_015346.4(ZFYVE26):c.3847A>G (p.Thr1283Ala) rs116139296 0.00036
NM_015346.4(ZFYVE26):c.6649C>G (p.Leu2217Val) rs149104493 0.00036
NM_002156.5(HSPD1):c.551A>G (p.Asn184Ser) rs67967266 0.00035
NM_007347.5(AP4E1):c.1852G>A (p.Val618Ile) rs142215198 0.00034
NM_004733.4(SLC33A1):c.370C>T (p.Leu124Phe) rs141818342 0.00033
NM_007347.5(AP4E1):c.1586C>T (p.Thr529Met) rs200110517 0.00032
NM_015346.4(ZFYVE26):c.3950C>T (p.Thr1317Met) rs143719747 0.00031
NM_015346.4(ZFYVE26):c.3967G>T (p.Ala1323Ser) rs137913651 0.00031
NM_004733.4(SLC33A1):c.400G>C (p.Val134Leu) rs148175458 0.00029
NM_001478.5(B4GALNT1):c.380C>T (p.Ser127Leu) rs141063083 0.00028
NM_001012301.4(ARSI):c.1544T>G (p.Phe515Cys) rs145878553 0.00027
NM_007347.5(AP4E1):c.257A>G (p.Tyr86Cys) rs138138484 0.00026
NM_001128126.3(AP4S1):c.133G>A (p.Glu45Lys) rs377744052 0.00025
NM_001478.5(B4GALNT1):c.754C>T (p.Arg252Cys) rs368334961 0.00025
NM_004733.4(SLC33A1):c.1498G>T (p.Gly500Cys) rs528636548 0.00025
NM_001478.5(B4GALNT1):c.1204G>A (p.Val402Met) rs377044701 0.00024
NM_015346.4(ZFYVE26):c.6T>A (p.Asn2Lys) rs150603522 0.00024
NM_015346.4(ZFYVE26):c.7150G>A (p.Val2384Ile) rs193074768 0.00024
NM_020944.3(GBA2):c.1357G>A (p.Ala453Thr) rs145802357 0.00024
NM_001012301.4(ARSI):c.779G>A (p.Arg260Gln) rs533440544 0.00022
NM_004820.5(CYP7B1):c.1371G>A (p.Met457Ile) rs771055759 0.00021
NM_020435.4(GJC2):c.1150C>T (p.Pro384Ser) rs535282333 0.00020
NM_001012301.4(ARSI):c.1631G>A (p.Arg544His) rs763136370 0.00019
NM_001012301.4(ARSI):c.379G>A (p.Asp127Asn) rs201857076 0.00019
NM_001478.5(B4GALNT1):c.1048A>G (p.Lys350Glu) rs144643461 0.00019
NM_007347.5(AP4E1):c.1951C>G (p.Leu651Val) rs148555464 0.00019
NM_020944.3(GBA2):c.2609G>A (p.Arg870Gln) rs199510198 0.00019
NM_001478.5(B4GALNT1):c.767C>T (p.Pro256Leu) rs200510000 0.00018
NM_004733.4(SLC33A1):c.1006G>A (p.Val336Ile) rs759509587 0.00018
NM_015346.4(ZFYVE26):c.6154G>A (p.Val2052Ile) rs201273304 0.00018
NM_020435.4(GJC2):c.1254_1256del (p.Lys418_Pro419delinsAsn) rs773338759 0.00018
NM_020435.4(GJC2):c.1258A>G (p.Arg420Gly) rs745978138 0.00018
NM_007347.5(AP4E1):c.2401G>A (p.Glu801Lys) rs556450190 0.00017
NM_020944.3(GBA2):c.1561G>A (p.Gly521Ser) rs371611090 0.00017
NM_020944.3(GBA2):c.806G>C (p.Gly269Ala) rs373010940 0.00017
NM_001385875.1(ZFYVE27):c.149A>G (p.Tyr50Cys) rs199548555 0.00016
NM_004820.5(CYP7B1):c.350A>C (p.Lys117Thr) rs138977616 0.00016
NM_004820.5(CYP7B1):c.929G>A (p.Arg310Gln) rs201867790 0.00016
NM_020944.3(GBA2):c.2197+3G>A rs373784058 0.00016
NM_005619.5(RTN2):c.1630G>A (p.Ala544Thr) rs201387324 0.00015
NM_015346.4(ZFYVE26):c.3662T>A (p.Leu1221Gln) rs554371710 0.00015
NM_020944.3(GBA2):c.659G>A (p.Gly220Asp) rs145436860 0.00015
NM_001012301.4(ARSI):c.1258C>T (p.Arg420Cys) rs201427501 0.00014
NM_004820.5(CYP7B1):c.1457G>A (p.Arg486His) rs755729966 0.00014
NM_007175.8(ERLIN2):c.819+3A>G rs377704533 0.00014
NM_007347.5(AP4E1):c.1461A>T (p.Leu487Phe) rs774800945 0.00014
NM_007347.5(AP4E1):c.3314G>A (p.Arg1105Gln) rs139640763 0.00014
NM_015346.4(ZFYVE26):c.1482C>A (p.Asn494Lys) rs559473389 0.00014
NM_015346.4(ZFYVE26):c.3802C>T (p.Leu1268Phe) rs202021708 0.00014
NM_015346.4(ZFYVE26):c.5927C>T (p.Thr1976Met) rs149744465 0.00014
NM_183075.3(CYP2U1):c.515C>T (p.Pro172Leu) rs751459304 0.00014
NM_020944.3(GBA2):c.1495G>A (p.Glu499Lys) rs35818148 0.00013
NM_001385875.1(ZFYVE27):c.53T>C (p.Met18Thr) rs769322350 0.00012
NM_015346.4(ZFYVE26):c.5714C>G (p.Ala1905Gly) rs117250367 0.00012
NM_001385875.1(ZFYVE27):c.415C>T (p.Arg139Cys) rs369972013 0.00011
NM_002156.5(HSPD1):c.794A>G (p.Asn265Ser) rs149003485 0.00011
NM_004820.5(CYP7B1):c.1018C>T (p.His340Tyr) rs757698965 0.00011
NM_005619.5(RTN2):c.385A>T (p.Thr129Ser) rs147152016 0.00011
NM_007347.5(AP4E1):c.1105A>C (p.Thr369Pro) rs149682827 0.00011
NM_015346.4(ZFYVE26):c.5321-3C>T rs376234357 0.00011
NM_015346.4(ZFYVE26):c.7399C>T (p.His2467Tyr) rs374750011 0.00011
NM_015346.4(ZFYVE26):c.961A>C (p.Lys321Gln) rs375820273 0.00011
NM_020435.4(GJC2):c.1137G>A (p.Ala379=) rs770713772 0.00011
NM_183075.3(CYP2U1):c.235C>G (p.Pro79Ala) rs768868832 0.00011
NM_183075.3(CYP2U1):c.358T>C (p.Phe120Leu) rs763896315 0.00011
NM_183075.3(CYP2U1):c.425A>T (p.Gln142Leu) rs140010604 0.00011
NM_001478.5(B4GALNT1):c.601G>C (p.Glu201Gln) rs546888005 0.00010
NM_004733.4(SLC33A1):c.1505C>T (p.Ser502Leu) rs149578822 0.00010
NM_004820.5(CYP7B1):c.101G>A (p.Cys34Tyr) rs1031580133 0.00010
NM_004820.5(CYP7B1):c.1507A>G (p.Lys503Glu) rs886043568 0.00010
NM_004820.5(CYP7B1):c.850+5G>C rs202155727 0.00010
NM_015346.4(ZFYVE26):c.7128+4C>T rs374198908 0.00010
NM_020435.4(GJC2):c.1082G>T (p.Gly361Val) rs1372028650 0.00010
NM_020435.4(GJC2):c.87G>A (p.Thr29=) rs781315856 0.00010
NM_020944.3(GBA2):c.1093G>A (p.Asp365Asn) rs201219745 0.00010
NM_001012301.4(ARSI):c.646G>A (p.Ala216Thr) rs757449885 0.00009
NM_001012301.4(ARSI):c.64T>C (p.Trp22Arg) rs759441290 0.00009
NM_001128126.3(AP4S1):c.83G>A (p.Arg28His) rs201972703 0.00009
NM_001478.5(B4GALNT1):c.1545G>A (p.Met515Ile) rs144984608 0.00009
NM_004733.4(SLC33A1):c.1559T>C (p.Ile520Thr) rs777143987 0.00009
NM_005619.5(RTN2):c.1210G>A (p.Val404Met) rs200512597 0.00009
NM_007347.5(AP4E1):c.1291G>A (p.Gly431Ser) rs147638518 0.00009
NM_007347.5(AP4E1):c.2450C>T (p.Ser817Phe) rs376025300 0.00009
NM_007347.5(AP4E1):c.932A>G (p.Asn311Ser) rs536656846 0.00009
NM_015346.4(ZFYVE26):c.260T>C (p.Leu87Ser) rs192944386 0.00009
NM_015346.4(ZFYVE26):c.5834G>A (p.Arg1945Gln) rs200595749 0.00009
NM_015346.4(ZFYVE26):c.6329T>C (p.Val2110Ala) rs754170372 0.00009
NM_015346.4(ZFYVE26):c.646G>A (p.Asp216Asn) rs562335179 0.00009
NM_015346.4(ZFYVE26):c.730C>A (p.Leu244Ile) rs148790248 0.00009
NM_015346.4(ZFYVE26):c.863C>T (p.Pro288Leu) rs369243775 0.00009
NM_001012301.4(ARSI):c.848G>A (p.Arg283His) rs149948064 0.00008
NM_004820.5(CYP7B1):c.11A>T (p.Glu4Val) rs754875085 0.00008
NM_007347.5(AP4E1):c.1031T>G (p.Phe344Cys) rs756542785 0.00008
NM_007347.5(AP4E1):c.1424C>T (p.Ala475Val) rs200678853 0.00008
NM_015346.4(ZFYVE26):c.4293G>C (p.Gln1431His) rs373740172 0.00008
NM_015346.4(ZFYVE26):c.7358G>C (p.Arg2453Thr) rs767313762 0.00008
NM_015346.4(ZFYVE26):c.914G>A (p.Arg305Gln) rs201954314 0.00008
NM_020944.3(GBA2):c.2563C>T (p.Arg855Cys) rs374335041 0.00008
NM_183075.3(CYP2U1):c.1414G>A (p.Gly472Arg) rs147277678 0.00008
NM_004733.4(SLC33A1):c.850G>A (p.Val284Ile) rs377484298 0.00007
NM_004820.5(CYP7B1):c.125G>A (p.Arg42Lys) rs375384257 0.00007
NM_007347.5(AP4E1):c.1757T>C (p.Met586Thr) rs139022614 0.00007
NM_014231.5(VAMP1):c.19C>T (p.Pro7Ser) rs773396496 0.00007
NM_015346.4(ZFYVE26):c.2084A>G (p.Gln695Arg) rs774454090 0.00007
NM_015346.4(ZFYVE26):c.541G>A (p.Gly181Ser) rs140211588 0.00007
NM_015346.4(ZFYVE26):c.6247C>T (p.Arg2083Trp) rs771396332 0.00007
NM_015346.4(ZFYVE26):c.7416+6C>T rs371196543 0.00007
NM_015346.4(ZFYVE26):c.763C>T (p.Arg255Trp) rs267604034 0.00007
NM_020944.3(GBA2):c.2055T>C (p.Ser685=) rs202088139 0.00007
NM_183075.3(CYP2U1):c.671T>C (p.Ile224Thr) rs139692261 0.00007
NM_001128126.3(AP4S1):c.290G>A (p.Arg97Gln) rs183487893 0.00006
NM_001128126.3(AP4S1):c.82C>T (p.Arg28Cys) rs112987601 0.00006
NM_001278116.2(L1CAM):c.992-3C>T rs201734187 0.00006
NM_001385875.1(ZFYVE27):c.1236A>G (p.Ter412Trp) rs140695712 0.00006
NM_001385875.1(ZFYVE27):c.557A>G (p.Tyr186Cys) rs575306476 0.00006
NM_001385875.1(ZFYVE27):c.917C>T (p.Pro306Leu) rs758158502 0.00006
NM_001478.5(B4GALNT1):c.326C>A (p.Ala109Glu) rs575817773 0.00006
NM_001478.5(B4GALNT1):c.877C>T (p.Arg293Trp) rs769436121 0.00006
NM_004733.4(SLC33A1):c.1579T>G (p.Phe527Val) rs200914930 0.00006
NM_004820.5(CYP7B1):c.1132C>G (p.Leu378Val) rs766368787 0.00006
NM_004820.5(CYP7B1):c.1147G>A (p.Gly383Arg) rs747144103 0.00006
NM_004820.5(CYP7B1):c.629G>A (p.Ser210Asn) rs886044713 0.00006
NM_005619.5(RTN2):c.110T>G (p.Leu37Arg) rs369180811 0.00006
NM_005619.5(RTN2):c.1618T>C (p.Ser540Pro) rs779865623 0.00006
NM_007347.5(AP4E1):c.133G>A (p.Ala45Thr) rs151135245 0.00006
NM_007347.5(AP4E1):c.2813A>G (p.Asp938Gly) rs372620158 0.00006
NM_007347.5(AP4E1):c.3118G>A (p.Asp1040Asn) rs368578986 0.00006
NM_014363.6(SACS):c.432G>T (p.Trp144Cys) rs368570790 0.00006
NM_015346.4(ZFYVE26):c.1193G>A (p.Cys398Tyr) rs148051385 0.00006
NM_015346.4(ZFYVE26):c.2264G>A (p.Arg755Gln) rs772679356 0.00006
NM_015346.4(ZFYVE26):c.2585C>G (p.Pro862Arg) rs138050875 0.00006
NM_015346.4(ZFYVE26):c.3404A>G (p.Gln1135Arg) rs773669036 0.00006
NM_015346.4(ZFYVE26):c.3851T>C (p.Leu1284Ser) rs1458593767 0.00006
NM_015346.4(ZFYVE26):c.3973C>T (p.Pro1325Ser) rs150637611 0.00006
NM_015346.4(ZFYVE26):c.4547C>T (p.Ala1516Val) rs768593489 0.00006
NM_015346.4(ZFYVE26):c.5320G>A (p.Gly1774Ser) rs372819280 0.00006
NM_015346.4(ZFYVE26):c.5768G>A (p.Arg1923Gln) rs199497582 0.00006
NM_015346.4(ZFYVE26):c.605G>A (p.Arg202Gln) rs752239666 0.00006
NM_015346.4(ZFYVE26):c.827G>A (p.Gly276Asp) rs201273988 0.00006
NM_020435.4(GJC2):c.302G>T (p.Arg101Leu) rs375288744 0.00006
NM_020944.3(GBA2):c.1540C>T (p.Arg514Cys) rs115051365 0.00006
NM_020944.3(GBA2):c.2161C>T (p.Arg721Trp) rs750088946 0.00006
NM_020944.3(GBA2):c.266G>C (p.Cys89Ser) rs143885818 0.00006
NM_020944.3(GBA2):c.379C>T (p.Arg127Trp) rs377217110 0.00006
NM_183075.3(CYP2U1):c.979G>C (p.Glu327Gln) rs767970725 0.00006
NM_001385875.1(ZFYVE27):c.1091G>A (p.Arg364Gln) rs371277197 0.00005
NM_002156.5(HSPD1):c.662G>A (p.Arg221Gln) rs140261894 0.00005
NM_004187.5(KDM5C):c.4631C>T (p.Thr1544Ile) rs782529520 0.00005
NM_004820.5(CYP7B1):c.1100C>T (p.Thr367Ile) rs999676674 0.00005
NM_005619.5(RTN2):c.1411G>A (p.Val471Met) rs138355894 0.00005
NM_005619.5(RTN2):c.536T>C (p.Leu179Ser) rs561232438 0.00005
NM_007347.5(AP4E1):c.1216A>G (p.Ile406Val) rs371779124 0.00005
NM_007347.5(AP4E1):c.2149C>T (p.Pro717Ser) rs150743968 0.00005
NM_007347.5(AP4E1):c.2437A>G (p.Met813Val) rs779094838 0.00005
NM_007347.5(AP4E1):c.560A>G (p.Lys187Arg) rs575755450 0.00005
NM_007347.5(AP4E1):c.992C>T (p.Ser331Leu) rs199740395 0.00005
NM_014231.5(VAMP1):c.335T>C (p.Ile112Thr) rs776075796 0.00005
NM_015346.4(ZFYVE26):c.1214C>G (p.Ala405Gly) rs767366135 0.00005
NM_015346.4(ZFYVE26):c.2010C>G (p.His670Gln) rs749925808 0.00005
NM_020435.4(GJC2):c.1019C>T (p.Ala340Val) rs752282539 0.00005
NM_020435.4(GJC2):c.418G>A (p.Asp140Asn) rs563631405 0.00005
NM_020944.3(GBA2):c.2425G>A (p.Val809Ile) rs778985234 0.00005
NM_020944.3(GBA2):c.752G>A (p.Arg251His) rs769204863 0.00005
NM_024306.5(FA2H):c.1119A>T (p.Ter373Cys) rs758814013 0.00005
NM_183075.3(CYP2U1):c.1630A>T (p.Arg544Ter) rs772136947 0.00005
NM_001012301.4(ARSI):c.1142G>A (p.Arg381Gln) rs140998209 0.00004
NM_001012301.4(ARSI):c.1610G>A (p.Arg537Gln) rs202078693 0.00004
NM_001012301.4(ARSI):c.460C>T (p.Arg154Trp) rs768276620 0.00004
NM_001478.5(B4GALNT1):c.254G>T (p.Ser85Ile) rs199725482 0.00004
NM_001478.5(B4GALNT1):c.431C>T (p.Pro144Leu) rs370194213 0.00004
NM_001478.5(B4GALNT1):c.958G>A (p.Val320Ile) rs149358222 0.00004
NM_002156.5(HSPD1):c.574A>G (p.Lys192Glu) rs747860040 0.00004
NM_004733.4(SLC33A1):c.1642A>G (p.Asn548Asp) rs767949889 0.00004
NM_004820.5(CYP7B1):c.515C>A (p.Thr172Asn) rs569241534 0.00004
NM_004820.5(CYP7B1):c.613A>C (p.Asn205His) rs137880436 0.00004
NM_004820.5(CYP7B1):c.832G>A (p.Glu278Lys) rs751907012 0.00004
NM_004820.5(CYP7B1):c.928C>T (p.Arg310Trp) rs746439960 0.00004
NM_004984.4(KIF5A):c.1283T>G (p.Leu428Arg) rs370132723 0.00004
NM_005619.5(RTN2):c.399C>A (p.Ser133=) rs138223572 0.00004
NM_006517.5(SLC16A2):c.572C>G (p.Thr191Ser) rs375483786 0.00004
NM_007347.5(AP4E1):c.1936C>T (p.Arg646Cys) rs199542290 0.00004
NM_007347.5(AP4E1):c.203C>T (p.Ser68Phe) rs758719313 0.00004
NM_007347.5(AP4E1):c.2258T>C (p.Val753Ala) rs757157711 0.00004
NM_007347.5(AP4E1):c.2702C>T (p.Ser901Phe) rs757562999 0.00004
NM_007347.5(AP4E1):c.2740A>C (p.Ile914Leu) rs755478140 0.00004
NM_007347.5(AP4E1):c.67G>C (p.Gly23Arg) rs373684336 0.00004
NM_014363.6(SACS):c.13732A>T (p.Lys4578Ter) rs916523887 0.00004
NM_014363.6(SACS):c.346-3T>A rs186506382 0.00004
NM_014363.6(SACS):c.6496C>T (p.Arg2166Cys) rs764516788 0.00004
NM_015346.4(ZFYVE26):c.1387C>T (p.Leu463Phe) rs556064894 0.00004
NM_015346.4(ZFYVE26):c.1511T>C (p.Met504Thr) rs752693745 0.00004
NM_015346.4(ZFYVE26):c.1526A>G (p.Tyr509Cys) rs767673365 0.00004
NM_015346.4(ZFYVE26):c.2386A>G (p.Ser796Gly) rs140061219 0.00004
NM_015346.4(ZFYVE26):c.3435C>T (p.Gly1145=) rs756973332 0.00004
NM_015346.4(ZFYVE26):c.416A>G (p.Asn139Ser) rs754388575 0.00004
NM_015346.4(ZFYVE26):c.4694A>G (p.Glu1565Gly) rs759468816 0.00004
NM_015346.4(ZFYVE26):c.5716G>A (p.Asp1906Asn) rs753330080 0.00004
NM_015346.4(ZFYVE26):c.6194C>T (p.Ala2065Val) rs200312607 0.00004
NM_015346.4(ZFYVE26):c.6560G>A (p.Arg2187Gln) rs151306544 0.00004
NM_015346.4(ZFYVE26):c.7042G>A (p.Glu2348Lys) rs762690743 0.00004
NM_015346.4(ZFYVE26):c.806G>A (p.Arg269Gln) rs553573718 0.00004
NM_020435.4(GJC2):c.1066C>A (p.Gln356Lys) rs146841026 0.00004
NM_020435.4(GJC2):c.35T>C (p.Leu12Pro) rs765598965 0.00004
NM_020944.3(GBA2):c.1301T>A (p.Phe434Tyr) rs372379752 0.00004
NM_020944.3(GBA2):c.1436C>T (p.Ala479Val) rs373844114 0.00004
NM_020944.3(GBA2):c.1816G>A (p.Val606Ile) rs754032114 0.00004
NM_020944.3(GBA2):c.1988A>T (p.Asp663Val) rs542233713 0.00004
NM_020944.3(GBA2):c.2228G>A (p.Arg743Gln) rs201520272 0.00004
NM_020944.3(GBA2):c.481A>G (p.Thr161Ala) rs778928893 0.00004
NM_020944.3(GBA2):c.746C>T (p.Thr249Ile) rs370954241 0.00004
NM_020944.3(GBA2):c.941G>A (p.Arg314His) rs371758545 0.00004
NM_020944.3(GBA2):c.959G>A (p.Arg320Gln) rs368192956 0.00004
NM_024306.5(FA2H):c.1030C>G (p.Gln344Glu) rs748697810 0.00004
NM_024306.5(FA2H):c.1093G>C (p.Glu365Gln) rs150795488 0.00004
NM_183075.3(CYP2U1):c.124C>T (p.Leu42Phe) rs901277054 0.00004
NM_183075.3(CYP2U1):c.164G>A (p.Arg55Gln) rs745929667 0.00004
NM_183075.3(CYP2U1):c.322G>A (p.Ala108Thr) rs770267485 0.00004
NM_001012301.4(ARSI):c.461G>A (p.Arg154Gln) rs746503472 0.00003
NM_001012301.4(ARSI):c.940C>T (p.Arg314Cys) rs776520005 0.00003
NM_001128126.3(AP4S1):c.268G>A (p.Val90Ile) rs535501562 0.00003
NM_001128126.3(AP4S1):c.306+4273C>A rs758028160 0.00003
NM_001128126.3(AP4S1):c.70G>A (p.Asp24Asn) rs61976851 0.00003
NM_001385875.1(ZFYVE27):c.1052C>T (p.Thr351Met) rs368842487 0.00003
NM_001478.5(B4GALNT1):c.191C>G (p.Pro64Arg) rs764035610 0.00003
NM_001478.5(B4GALNT1):c.218+3G>A rs534200134 0.00003
NM_001478.5(B4GALNT1):c.620C>T (p.Thr207Ile) rs769379493 0.00003
NM_001478.5(B4GALNT1):c.997G>A (p.Gly333Ser) rs138721508 0.00003
NM_002156.5(HSPD1):c.385G>A (p.Glu129Lys) rs139436185 0.00003
NM_004187.5(KDM5C):c.3881A>G (p.Gln1294Arg) rs782320563 0.00003
NM_004187.5(KDM5C):c.4334G>A (p.Arg1445His) rs782272528 0.00003
NM_004187.5(KDM5C):c.4563G>T (p.Glu1521Asp) rs782274958 0.00003
NM_004733.4(SLC33A1):c.968G>C (p.Gly323Ala) rs765678618 0.00003
NM_004820.5(CYP7B1):c.1171G>A (p.Asp391Asn) rs1458654195 0.00003
NM_004820.5(CYP7B1):c.1233G>A (p.Glu411=) rs369566738 0.00003
NM_004820.5(CYP7B1):c.349A>G (p.Lys117Glu) rs368626966 0.00003
NM_004820.5(CYP7B1):c.695T>C (p.Ile232Thr) rs373829533 0.00003
NM_004820.5(CYP7B1):c.835G>A (p.Asp279Asn) rs766759427 0.00003
NM_004820.5(CYP7B1):c.898A>G (p.Thr300Ala) rs749129791 0.00003
NM_005619.5(RTN2):c.937C>A (p.Pro313Thr) rs751265544 0.00003
NM_006517.5(SLC16A2):c.1204A>T (p.Met402Leu) rs773263889 0.00003
NM_006517.5(SLC16A2):c.257G>A (p.Arg86His) rs891497471 0.00003
NM_007347.5(AP4E1):c.1103C>T (p.Pro368Leu) rs771844025 0.00003
NM_007347.5(AP4E1):c.1451A>T (p.Asp484Val) rs773569377 0.00003
NM_007347.5(AP4E1):c.1808T>C (p.Met603Thr) rs374123339 0.00003
NM_007347.5(AP4E1):c.2044C>G (p.Leu682Val) rs375439683 0.00003
NM_007347.5(AP4E1):c.2416G>A (p.Glu806Lys) rs756384880 0.00003
NM_007347.5(AP4E1):c.3277C>G (p.Gln1093Glu) rs773929706 0.00003
NM_014231.5(VAMP1):c.299T>C (p.Met100Thr) rs901075787 0.00003
NM_014231.5(VAMP1):c.34A>T (p.Thr12Ser) rs758185488 0.00003
NM_014363.6(SACS):c.10675C>G (p.Pro3559Ala) rs767704103 0.00003
NM_014363.6(SACS):c.1941G>T (p.Lys647Asn) rs201021919 0.00003
NM_014363.6(SACS):c.4318A>G (p.Ser1440Gly) rs1172044277 0.00003
NM_015346.4(ZFYVE26):c.2070G>C (p.Arg690Ser) rs911420369 0.00003
NM_015346.4(ZFYVE26):c.2615G>A (p.Arg872His) rs532059976 0.00003
NM_015346.4(ZFYVE26):c.2680G>A (p.Ala894Thr) rs149203489 0.00003
NM_015346.4(ZFYVE26):c.361G>A (p.Glu121Lys) rs201229339 0.00003
NM_015346.4(ZFYVE26):c.3754C>T (p.Arg1252Cys) rs373621715 0.00003
NM_015346.4(ZFYVE26):c.3755G>A (p.Arg1252His) rs201203611 0.00003
NM_015346.4(ZFYVE26):c.3818C>T (p.Pro1273Leu) rs755456204 0.00003
NM_015346.4(ZFYVE26):c.3820A>G (p.Ser1274Gly) rs1348928561 0.00003
NM_015346.4(ZFYVE26):c.3970T>A (p.Ser1324Thr) rs776708469 0.00003
NM_015346.4(ZFYVE26):c.397G>A (p.Gly133Ser) rs199505106 0.00003
NM_015346.4(ZFYVE26):c.3985G>A (p.Val1329Ile) rs758842694 0.00003
NM_015346.4(ZFYVE26):c.4027A>G (p.Arg1343Gly) rs777319379 0.00003
NM_015346.4(ZFYVE26):c.4072C>T (p.Arg1358Cys) rs754621080 0.00003
NM_015346.4(ZFYVE26):c.4955C>T (p.Ala1652Val) rs752388667 0.00003
NM_015346.4(ZFYVE26):c.5494C>T (p.Arg1832Cys) rs763540632 0.00003
NM_015346.4(ZFYVE26):c.5636C>T (p.Pro1879Leu) rs757291996 0.00003
NM_015346.4(ZFYVE26):c.5787G>T (p.Glu1929Asp) rs534207383 0.00003
NM_015346.4(ZFYVE26):c.6190G>A (p.Gly2064Arg) rs368378082 0.00003
NM_015346.4(ZFYVE26):c.6287T>C (p.Leu2096Pro) rs367857763 0.00003
NM_015346.4(ZFYVE26):c.6419G>A (p.Arg2140Gln) rs373855798 0.00003
NM_015346.4(ZFYVE26):c.6588+4G>A rs369254983 0.00003
NM_015346.4(ZFYVE26):c.7075C>T (p.Pro2359Ser) rs747029622 0.00003
NM_015346.4(ZFYVE26):c.7231C>T (p.Arg2411Cys) rs375202089 0.00003
NM_020944.3(GBA2):c.1058T>C (p.Phe353Ser) rs1342067395 0.00003
NM_020944.3(GBA2):c.1814G>A (p.Arg605His) rs563054828 0.00003
NM_020944.3(GBA2):c.2467G>T (p.Gly823Cys) rs1163977326 0.00003
NM_024306.5(FA2H):c.529G>A (p.Val177Met) rs201500782 0.00003
NM_024306.5(FA2H):c.786+6C>T rs746907255 0.00003
NM_024306.5(FA2H):c.799G>A (p.Gly267Ser) rs762987810 0.00003
NM_024306.5(FA2H):c.94C>G (p.Arg32Gly) rs978032580 0.00003
NM_001012301.4(ARSI):c.1574G>A (p.Ser525Asn) rs771643080 0.00002
NM_001012301.4(ARSI):c.613G>A (p.Gly205Ser) rs759105703 0.00002
NM_001012301.4(ARSI):c.790G>A (p.Ala264Thr) rs770174912 0.00002
NM_001278116.2(L1CAM):c.2869C>A (p.Pro957Thr) rs1307427270 0.00002
NM_001385875.1(ZFYVE27):c.242A>G (p.Asn81Ser) rs565250413 0.00002
NM_001385875.1(ZFYVE27):c.913G>A (p.Ala305Thr) rs1405750745 0.00002
NM_001478.5(B4GALNT1):c.107C>T (p.Pro36Leu) rs994923026 0.00002
NM_001478.5(B4GALNT1):c.440A>G (p.Tyr147Cys) rs751949502 0.00002
NM_001478.5(B4GALNT1):c.757A>G (p.Ile253Val) rs749010936 0.00002
NM_001478.5(B4GALNT1):c.829G>A (p.Ala277Thr) rs373978358 0.00002
NM_002156.5(HSPD1):c.1461A>T (p.Gly487=) rs1342462739 0.00002
NM_002156.5(HSPD1):c.308A>G (p.Asn103Ser) rs766297735 0.00002
NM_002156.5(HSPD1):c.59C>T (p.Pro20Leu) rs757923024 0.00002
NM_004187.5(KDM5C):c.2375A>C (p.Glu792Ala) rs782426227 0.00002
NM_004187.5(KDM5C):c.2944C>T (p.Arg982Cys) rs369353279 0.00002
NM_004187.5(KDM5C):c.3068A>G (p.Lys1023Arg) rs782367133 0.00002
NM_004187.5(KDM5C):c.3668C>T (p.Pro1223Leu) rs199817424 0.00002
NM_004187.5(KDM5C):c.4406G>T (p.Gly1469Val) rs1428371887 0.00002
NM_004733.4(SLC33A1):c.131G>T (p.Gly44Val) rs780400607 0.00002
NM_004733.4(SLC33A1):c.280A>T (p.Ser94Cys) rs780342840 0.00002
NM_004733.4(SLC33A1):c.540T>A (p.Thr180=) rs1020651893 0.00002
NM_004733.4(SLC33A1):c.763G>A (p.Val255Ile) rs1173522838 0.00002
NM_004820.5(CYP7B1):c.1220T>C (p.Phe407Ser) rs769450032 0.00002
NM_004820.5(CYP7B1):c.1400T>C (p.Leu467Ser) rs1032229386 0.00002
NM_004820.5(CYP7B1):c.1430A>G (p.Asp477Gly) rs745805058 0.00002
NM_004820.5(CYP7B1):c.147A>G (p.Ile49Met) rs774259036 0.00002
NM_004820.5(CYP7B1):c.151G>A (p.Gly51Ser) rs961524982 0.00002
NM_004820.5(CYP7B1):c.478A>G (p.Asn160Asp) rs775784484 0.00002
NM_004820.5(CYP7B1):c.538C>G (p.Leu180Val) rs1298248066 0.00002
NM_004820.5(CYP7B1):c.608G>A (p.Cys203Tyr) rs746173425 0.00002
NM_004820.5(CYP7B1):c.941C>T (p.Ala314Val) rs775227835 0.00002
NM_004984.4(KIF5A):c.1631G>A (p.Arg544Gln) rs778864713 0.00002
NM_004984.4(KIF5A):c.1796A>G (p.Lys599Arg) rs1471037370 0.00002
NM_004984.4(KIF5A):c.2006C>A (p.Ala669Asp) rs753975521 0.00002
NM_004984.4(KIF5A):c.2135G>A (p.Arg712Gln) rs373969485 0.00002
NM_004984.4(KIF5A):c.2152C>T (p.Arg718Trp) rs769871370 0.00002
NM_004984.4(KIF5A):c.217+5T>C rs1321172885 0.00002
NM_004984.4(KIF5A):c.2282C>G (p.Thr761Ser) rs1271325672 0.00002
NM_004984.4(KIF5A):c.2734C>T (p.Arg912Trp) rs201098122 0.00002
NM_004984.4(KIF5A):c.2990A>T (p.Asn997Ile) rs146202502 0.00002
NM_004984.4(KIF5A):c.560G>C (p.Gly187Ala) rs147510678 0.00002
NM_004984.4(KIF5A):c.5C>T (p.Ala2Val) rs780433858 0.00002
NM_005619.5(RTN2):c.1061C>T (p.Thr354Met) rs762160784 0.00002
NM_005619.5(RTN2):c.1129G>A (p.Val377Met) rs146778767 0.00002
NM_005619.5(RTN2):c.1233C>G (p.Asn411Lys) rs868042088 0.00002
NM_006517.5(SLC16A2):c.148G>A (p.Glu50Lys) rs756065515 0.00002
NM_007175.8(ERLIN2):c.820C>A (p.Leu274Met) rs1481759100 0.00002
NM_007347.5(AP4E1):c.2033C>T (p.Ala678Val) rs760833457 0.00002
NM_007347.5(AP4E1):c.211A>G (p.Thr71Ala) rs1490232988 0.00002
NM_007347.5(AP4E1):c.223A>C (p.Lys75Gln) rs768026274 0.00002
NM_007347.5(AP4E1):c.2407A>G (p.Lys803Glu) rs781254112 0.00002
NM_014231.5(VAMP1):c.26C>G (p.Ala9Gly) rs375340840 0.00002
NM_014231.5(VAMP1):c.307G>A (p.Ala103Thr) rs772852206 0.00002
NM_015346.4(ZFYVE26):c.1255T>G (p.Cys419Gly) rs970442327 0.00002
NM_015346.4(ZFYVE26):c.1462C>T (p.His488Tyr) rs145455748 0.00002
NM_015346.4(ZFYVE26):c.1504T>C (p.Cys502Arg) rs1035299180 0.00002
NM_015346.4(ZFYVE26):c.1859C>T (p.Pro620Leu) rs1446154884 0.00002
NM_015346.4(ZFYVE26):c.2174G>A (p.Arg725His) rs374310868 0.00002
NM_015346.4(ZFYVE26):c.2299C>T (p.Arg767Cys) rs865826144 0.00002
NM_015346.4(ZFYVE26):c.2422T>C (p.Ser808Pro) rs758794744 0.00002
NM_015346.4(ZFYVE26):c.2986G>A (p.Glu996Lys) rs778790022 0.00002
NM_015346.4(ZFYVE26):c.308A>C (p.Glu103Ala) rs750426190 0.00002
NM_015346.4(ZFYVE26):c.3172C>T (p.Arg1058Trp) rs200775182 0.00002
NM_015346.4(ZFYVE26):c.3177C>G (p.Cys1059Trp) rs1345853054 0.00002
NM_015346.4(ZFYVE26):c.3788A>T (p.His1263Leu) rs753068215 0.00002
NM_015346.4(ZFYVE26):c.3931C>T (p.Arg1311Cys) rs763605079 0.00002
NM_015346.4(ZFYVE26):c.3932G>A (p.Arg1311His) rs367970314 0.00002
NM_015346.4(ZFYVE26):c.5347C>G (p.Leu1783Val) rs752654491 0.00002
NM_015346.4(ZFYVE26):c.6263G>A (p.Arg2088His) rs769602785 0.00002
NM_015346.4(ZFYVE26):c.6802G>A (p.Ala2268Thr) rs199942594 0.00002
NM_015346.4(ZFYVE26):c.764G>A (p.Arg255Gln) rs200023667 0.00002
NM_015346.4(ZFYVE26):c.805C>T (p.Arg269Trp) rs778438729 0.00002
NM_020435.4(GJC2):c.217C>A (p.Pro73Thr) rs1330596542 0.00002
NM_020435.4(GJC2):c.295G>A (p.Val99Met) rs754971409 0.00002
NM_020435.4(GJC2):c.550G>A (p.Ala184Thr) rs758277909 0.00002
NM_020435.4(GJC2):c.599G>A (p.Gly200Glu) rs747380067 0.00002
NM_020944.3(GBA2):c.2054+6C>T rs148315388 0.00002
NM_020944.3(GBA2):c.388C>T (p.His130Tyr) rs143493395 0.00002
NM_020944.3(GBA2):c.491G>A (p.Arg164His) rs192753525 0.00002
NM_024306.5(FA2H):c.1027C>T (p.His343Tyr) rs948211737 0.00002
NM_024306.5(FA2H):c.35C>T (p.Ser12Leu) rs1245153953 0.00002
NM_024306.5(FA2H):c.772G>A (p.Gly258Ser) rs774693133 0.00002
NM_024306.5(FA2H):c.794T>G (p.Phe265Cys) rs149133141 0.00002
NM_183075.3(CYP2U1):c.1106C>T (p.Ser369Leu) rs141112404 0.00002
NM_183075.3(CYP2U1):c.1253C>T (p.Pro418Leu) rs201629689 0.00002
NM_183075.3(CYP2U1):c.719G>A (p.Arg240His) rs145638445 0.00002
NM_001012301.4(ARSI):c.1096G>T (p.Asp366Tyr) rs764276956 0.00001
NM_001012301.4(ARSI):c.1153C>T (p.Arg385Cys) rs376385573 0.00001
NM_001012301.4(ARSI):c.1628G>A (p.Arg543His) rs752677006 0.00001
NM_001012301.4(ARSI):c.1672C>T (p.Arg558Cys) rs747622334 0.00001
NM_001012301.4(ARSI):c.232G>A (p.Ala78Thr) rs763003022 0.00001
NM_001012301.4(ARSI):c.349C>T (p.Arg117Cys) rs768025747 0.00001
NM_001012301.4(ARSI):c.583G>A (p.Glu195Lys) rs1036095892 0.00001
NM_001012301.4(ARSI):c.640C>T (p.Gln214Ter) rs769558952 0.00001
NM_001012301.4(ARSI):c.736C>T (p.Arg246Cys) rs749539572 0.00001
NM_001012301.4(ARSI):c.967G>A (p.Val323Met) rs141392111 0.00001
NM_001128126.3(AP4S1):c.306+35G>A rs571583264 0.00001
NM_001128126.3(AP4S1):c.306+4182T>A rs913347896 0.00001
NM_001128126.3(AP4S1):c.306+4234A>G rs1887843929 0.00001
NM_001278116.2(L1CAM):c.1225C>T (p.Arg409Trp) rs782132624 0.00001
NM_001278116.2(L1CAM):c.1358C>T (p.Ala453Val) rs1557092050 0.00001
NM_001278116.2(L1CAM):c.1894C>G (p.Arg632Gly) rs782367123 0.00001
NM_001278116.2(L1CAM):c.2758C>T (p.His920Tyr) rs2064701743 0.00001
NM_001278116.2(L1CAM):c.3181G>T (p.Ala1061Ser) rs1232974377 0.00001
NM_001278116.2(L1CAM):c.3770A>G (p.Glu1257Gly) rs1557089225 0.00001
NM_001385875.1(ZFYVE27):c.1022G>A (p.Arg341His) rs927949688 0.00001
NM_001385875.1(ZFYVE27):c.1042G>A (p.Gly348Arg) rs779342544 0.00001
NM_001385875.1(ZFYVE27):c.1151A>G (p.Lys384Arg) rs1032496804 0.00001
NM_001385875.1(ZFYVE27):c.436G>A (p.Val146Met) rs746654065 0.00001
NM_001385875.1(ZFYVE27):c.538G>A (p.Val180Ile) rs751379469 0.00001
NM_001385875.1(ZFYVE27):c.680G>A (p.Arg227Lys) rs2046602733 0.00001
NM_001385875.1(ZFYVE27):c.727T>C (p.Phe243Leu) rs980483998 0.00001
NM_001385875.1(ZFYVE27):c.764A>G (p.Asp255Gly) rs775345962 0.00001
NM_001385875.1(ZFYVE27):c.995C>G (p.Ser332Cys) rs1442129328 0.00001
NM_001385875.1(ZFYVE27):c.998G>A (p.Arg333Gln) rs370222554 0.00001
NM_001478.5(B4GALNT1):c.1002+4T>C rs750503233 0.00001
NM_001478.5(B4GALNT1):c.1008G>C (p.Trp336Cys) rs144926023 0.00001
NM_001478.5(B4GALNT1):c.106C>T (p.Pro36Ser) rs780178164 0.00001
NM_001478.5(B4GALNT1):c.1088C>G (p.Ala363Gly) rs1344371363 0.00001
NM_001478.5(B4GALNT1):c.1189C>T (p.Arg397Trp) rs1366537672 0.00001
NM_001478.5(B4GALNT1):c.1435G>A (p.Val479Ile) rs995397312 0.00001
NM_001478.5(B4GALNT1):c.14G>T (p.Arg5Leu) rs1379563517 0.00001
NM_001478.5(B4GALNT1):c.251C>G (p.Ser84Cys) rs1299468966 0.00001
NM_001478.5(B4GALNT1):c.46G>T (p.Ala16Ser) rs560242428 0.00001
NM_001478.5(B4GALNT1):c.800T>C (p.Leu267Pro) rs765702603 0.00001
NM_001478.5(B4GALNT1):c.863G>A (p.Arg288His) rs376291531 0.00001
NM_001478.5(B4GALNT1):c.871C>T (p.Arg291Trp) rs1885017573 0.00001
NM_001478.5(B4GALNT1):c.899G>A (p.Arg300His) rs771628032 0.00001
NM_001478.5(B4GALNT1):c.931G>A (p.Ala311Thr) rs897160467 0.00001
NM_001478.5(B4GALNT1):c.98T>C (p.Leu33Pro) rs920888983 0.00001
NM_002156.5(HSPD1):c.1003G>A (p.Glu335Lys) rs1211601466 0.00001
NM_002156.5(HSPD1):c.1009G>A (p.Val337Ile) rs755920309 0.00001
NM_002156.5(HSPD1):c.1068G>A (p.Met356Ile) rs764997042 0.00001
NM_002156.5(HSPD1):c.1207G>A (p.Val403Met) rs886055386 0.00001
NM_002156.5(HSPD1):c.1219G>A (p.Gly407Ser) rs781279282 0.00001
NM_002156.5(HSPD1):c.1294G>A (p.Val432Ile) rs184516277 0.00001
NM_002156.5(HSPD1):c.1542G>A (p.Val514=) rs774106420 0.00001
NM_002156.5(HSPD1):c.1702A>G (p.Met568Val) rs757331948 0.00001
NM_002156.5(HSPD1):c.823G>A (p.Ala275Thr) rs953604247 0.00001
NM_002156.5(HSPD1):c.869+4A>G rs749804768 0.00001
NM_004187.5(KDM5C):c.2866G>A (p.Ala956Thr) rs1392496114 0.00001
NM_004187.5(KDM5C):c.4034C>T (p.Pro1345Leu) rs782668307 0.00001
NM_004187.5(KDM5C):c.4090G>A (p.Ala1364Thr) rs1556833274 0.00001
NM_004187.5(KDM5C):c.4566C>A (p.Asn1522Lys) rs1245355138 0.00001
NM_004733.4(SLC33A1):c.1003T>G (p.Leu335Val) rs1248630150 0.00001
NM_004733.4(SLC33A1):c.1037C>T (p.Ala346Val) rs771681797 0.00001
NM_004733.4(SLC33A1):c.1457A>G (p.Asn486Ser) rs745849692 0.00001
NM_004733.4(SLC33A1):c.201C>G (p.Ser67Arg) rs762010317 0.00001
NM_004733.4(SLC33A1):c.311T>C (p.Val104Ala) rs1028028437 0.00001
NM_004733.4(SLC33A1):c.393G>A (p.Ala131=) rs954053538 0.00001
NM_004733.4(SLC33A1):c.43C>T (p.Arg15Trp) rs745782500 0.00001
NM_004733.4(SLC33A1):c.583A>G (p.Ile195Val) rs148999356 0.00001
NM_004733.4(SLC33A1):c.685A>G (p.Asn229Asp) rs755014645 0.00001
NM_004733.4(SLC33A1):c.797C>G (p.Thr266Ser) rs374979946 0.00001
NM_004733.4(SLC33A1):c.988G>A (p.Val330Ile) rs1449462090 0.00001
NM_004820.5(CYP7B1):c.1031A>C (p.Glu344Ala) rs1057518485 0.00001
NM_004820.5(CYP7B1):c.1061G>A (p.Ser354Asn) rs753708048 0.00001
NM_004820.5(CYP7B1):c.112C>T (p.Arg38Trp) rs1169097528 0.00001
NM_004820.5(CYP7B1):c.1153T>C (p.Tyr385His) rs1805252495 0.00001
NM_004820.5(CYP7B1):c.1193C>T (p.Pro398Leu) rs767611387 0.00001
NM_004820.5(CYP7B1):c.1234G>A (p.Glu412Lys) rs116462183 0.00001
NM_004820.5(CYP7B1):c.1256T>C (p.Ile419Thr) rs778082094 0.00001
NM_004820.5(CYP7B1):c.1310G>A (p.Cys437Tyr) rs886063072 0.00001
NM_004820.5(CYP7B1):c.1322C>T (p.Pro441Leu) rs1376071051 0.00001
NM_004820.5(CYP7B1):c.1355G>A (p.Arg452Gln) rs775806979 0.00001
NM_004820.5(CYP7B1):c.1468G>T (p.Gly490Cys) rs1259728204 0.00001
NM_004820.5(CYP7B1):c.148A>C (p.Lys50Gln) rs981969611 0.00001
NM_004820.5(CYP7B1):c.23C>T (p.Ala8Val) rs565769944 0.00001
NM_004820.5(CYP7B1):c.360G>C (p.Glu120Asp) rs1471658177 0.00001
NM_004820.5(CYP7B1):c.440G>A (p.Gly147Asp) rs754730601 0.00001
NM_004820.5(CYP7B1):c.581C>G (p.Thr194Arg) rs1316960085 0.00001
NM_004820.5(CYP7B1):c.70C>G (p.Leu24Val) rs1804748061 0.00001
NM_004820.5(CYP7B1):c.77C>T (p.Ala26Val) rs754214163 0.00001
NM_004820.5(CYP7B1):c.819A>C (p.Lys273Asn) rs1331028527 0.00001
NM_004820.5(CYP7B1):c.8G>A (p.Gly3Glu) rs1052965378 0.00001
NM_004820.5(CYP7B1):c.910G>A (p.Ala304Thr) rs748070308 0.00001
NM_004820.5(CYP7B1):c.92T>A (p.Leu31Gln) rs886063076 0.00001
NM_004820.5(CYP7B1):c.945_947dup (p.Ala317dup) rs757326595 0.00001
NM_004820.5(CYP7B1):c.955C>T (p.Arg319Cys) rs1410531135 0.00001
NM_004820.5(CYP7B1):c.956G>T (p.Arg319Leu) rs767826482 0.00001
NM_004984.4(KIF5A):c.1063G>T (p.Ala355Ser) rs749301835 0.00001
NM_004984.4(KIF5A):c.1111C>T (p.Arg371Cys) rs986406337 0.00001
NM_004984.4(KIF5A):c.1117+4A>G rs781028681 0.00001
NM_004984.4(KIF5A):c.1123A>G (p.Asn375Asp) rs767095969 0.00001
NM_004984.4(KIF5A):c.1152G>T (p.Gly384=) rs1206226779 0.00001
NM_004984.4(KIF5A):c.1177C>A (p.Leu393Ile) rs1247656371 0.00001
NM_004984.4(KIF5A):c.1223G>A (p.Arg408His) rs1203347152 0.00001
NM_004984.4(KIF5A):c.1373C>T (p.Ser458Phe) rs1445439522 0.00001
NM_004984.4(KIF5A):c.151C>T (p.Arg51Cys) rs769763596 0.00001
NM_004984.4(KIF5A):c.1569+6T>C rs1191410072 0.00001
NM_004984.4(KIF5A):c.1570-5C>T rs752180551 0.00001
NM_004984.4(KIF5A):c.170C>T (p.Thr57Met) rs759785671 0.00001
NM_004984.4(KIF5A):c.1735G>A (p.Ala579Thr) rs760135493 0.00001
NM_004984.4(KIF5A):c.1850G>A (p.Arg617His) rs751295639 0.00001
NM_004984.4(KIF5A):c.1867G>A (p.Gly623Arg) rs1882386176 0.00001
NM_004984.4(KIF5A):c.1964G>A (p.Arg655Gln) rs772780431 0.00001
NM_004984.4(KIF5A):c.2119C>T (p.Arg707Trp) rs756646293 0.00001
NM_004984.4(KIF5A):c.2188G>A (p.Glu730Lys) rs370904481 0.00001
NM_004984.4(KIF5A):c.2342A>G (p.Lys781Arg) rs1461718357 0.00001
NM_004984.4(KIF5A):c.2365C>T (p.Arg789Trp) rs781124099 0.00001
NM_004984.4(KIF5A):c.236A>G (p.Asn79Ser) rs1299838179 0.00001
NM_004984.4(KIF5A):c.2392C>T (p.Arg798Cys) rs372633156 0.00001
NM_004984.4(KIF5A):c.2452G>A (p.Glu818Lys) rs766050696 0.00001
NM_004984.4(KIF5A):c.2478A>C (p.Gln826His) rs777903778 0.00001
NM_004984.4(KIF5A):c.2603C>T (p.Thr868Met) rs1295436882 0.00001
NM_004984.4(KIF5A):c.2630G>C (p.Gly877Ala) rs1882579532 0.00001
NM_004984.4(KIF5A):c.2681A>T (p.Gln894Leu) rs1192823802 0.00001
NM_004984.4(KIF5A):c.2710G>A (p.Val904Ile) rs141590802 0.00001
NM_004984.4(KIF5A):c.2713C>T (p.Arg905Cys) rs758637368 0.00001
NM_004984.4(KIF5A):c.2755+3G>A rs1416076720 0.00001
NM_004984.4(KIF5A):c.2767C>T (p.Arg923Trp) rs1231571339 0.00001
NM_004984.4(KIF5A):c.291+5G>A rs775732465 0.00001
NM_004984.4(KIF5A):c.2921C>T (p.Ser974Phe) rs1882614569 0.00001
NM_004984.4(KIF5A):c.2992+3G>T rs1882618202 0.00001
NM_004984.4(KIF5A):c.3050A>G (p.Glu1017Gly) rs1485170378 0.00001
NM_004984.4(KIF5A):c.3085A>G (p.Thr1029Ala) rs1276293459 0.00001
NM_004984.4(KIF5A):c.32A>C (p.Lys11Thr) rs748864821 0.00001
NM_004984.4(KIF5A):c.449C>G (p.Thr150Ser) rs1882017045 0.00001
NM_004984.4(KIF5A):c.52C>T (p.Pro18Ser) rs770302674 0.00001
NM_004984.4(KIF5A):c.530C>T (p.Pro177Leu) rs1319232269 0.00001
NM_004984.4(KIF5A):c.659C>T (p.Thr220Met) rs772697257 0.00001
NM_004984.4(KIF5A):c.819+12T>G rs1264041425 0.00001
NM_004984.4(KIF5A):c.848A>G (p.Lys283Arg) rs1882169104 0.00001
NM_004984.4(KIF5A):c.967C>T (p.Arg323Trp) rs1012819766 0.00001
NM_005619.5(RTN2):c.1100C>T (p.Ser367Phe) rs140494585 0.00001
NM_005619.5(RTN2):c.1146C>G (p.His382Gln) rs761037026 0.00001
NM_005619.5(RTN2):c.1326G>A (p.Ala442=) rs576506093 0.00001
NM_005619.5(RTN2):c.1340G>A (p.Arg447Gln) rs1262346281 0.00001
NM_005619.5(RTN2):c.1535A>G (p.Gln512Arg) rs1272372658 0.00001
NM_005619.5(RTN2):c.1585G>A (p.Ala529Thr) rs767540821 0.00001
NM_005619.5(RTN2):c.253C>T (p.Arg85Cys) rs751101450 0.00001
NM_005619.5(RTN2):c.505G>A (p.Glu169Lys) rs560858936 0.00001
NM_005619.5(RTN2):c.707T>C (p.Leu236Pro) rs1968222567 0.00001
NM_005619.5(RTN2):c.733C>T (p.Pro245Ser) rs1162893244 0.00001
NM_005619.5(RTN2):c.874A>G (p.Ile292Val) rs762624721 0.00001
NM_006517.5(SLC16A2):c.1235G>A (p.Gly412Asp) rs1312142074 0.00001
NM_006517.5(SLC16A2):c.1366G>T (p.Ala456Ser) rs753333178 0.00001
NM_006517.5(SLC16A2):c.1608G>A (p.Glu536=) rs1407216782 0.00001
NM_006517.5(SLC16A2):c.202G>A (p.Glu68Lys) rs1034820850 0.00001
NM_006517.5(SLC16A2):c.524C>T (p.Thr175Ile) rs753832797 0.00001
NM_006517.5(SLC16A2):c.52G>A (p.Ala18Thr) rs1928296742 0.00001
NM_006517.5(SLC16A2):c.938T>C (p.Met313Thr) rs1930462863 0.00001
NM_007175.8(ERLIN2):c.220G>A (p.Val74Ile) rs1802860785 0.00001
NM_007175.8(ERLIN2):c.298+5G>A rs368268528 0.00001
NM_007175.8(ERLIN2):c.389T>C (p.Val130Ala) rs371713211 0.00001
NM_007175.8(ERLIN2):c.688G>A (p.Gly230Arg) rs752925074 0.00001
NM_007175.8(ERLIN2):c.76A>T (p.Ile26Leu) rs1302684546 0.00001
NM_007175.8(ERLIN2):c.772G>T (p.Ala258Ser) rs368687557 0.00001
NM_007175.8(ERLIN2):c.862G>C (p.Ala288Pro) rs907287913 0.00001
NM_007347.5(AP4E1):c.1036C>A (p.Leu346Met) rs201394319 0.00001
NM_007347.5(AP4E1):c.1183G>A (p.Glu395Lys) rs751577288 0.00001
NM_007347.5(AP4E1):c.1279G>A (p.Val427Ile) rs774494463 0.00001
NM_007347.5(AP4E1):c.1403A>G (p.Asn468Ser) rs780651589 0.00001
NM_007347.5(AP4E1):c.1499A>G (p.Asp500Gly) rs1344364385 0.00001
NM_007347.5(AP4E1):c.1582G>A (p.Glu528Lys) rs1267824482 0.00001
NM_007347.5(AP4E1):c.1600A>G (p.Ile534Val) rs1343407484 0.00001
NM_007347.5(AP4E1):c.1660T>G (p.Leu554Val) rs761229505 0.00001
NM_007347.5(AP4E1):c.1804C>T (p.Leu602Phe) rs201486041 0.00001
NM_007347.5(AP4E1):c.194C>T (p.Ala65Val) rs368584847 0.00001
NM_007347.5(AP4E1):c.2069G>A (p.Ser690Asn) rs1447319588 0.00001
NM_007347.5(AP4E1):c.212C>T (p.Thr71Ile) rs755540057 0.00001
NM_007347.5(AP4E1):c.2335A>G (p.Thr779Ala) rs145037780 0.00001
NM_007347.5(AP4E1):c.2371C>T (p.His791Tyr) rs1006880090 0.00001
NM_007347.5(AP4E1):c.2638A>G (p.Asn880Asp) rs201177806 0.00001
NM_007347.5(AP4E1):c.2767A>G (p.Asn923Asp) rs1245295225 0.00001
NM_007347.5(AP4E1):c.284C>T (p.Ser95Phe) rs771192552 0.00001
NM_007347.5(AP4E1):c.2862G>C (p.Leu954Phe) rs752289823 0.00001
NM_007347.5(AP4E1):c.293A>G (p.Tyr98Cys) rs1203910887 0.00001
NM_007347.5(AP4E1):c.2969A>G (p.Tyr990Cys) rs767786324 0.00001
NM_007347.5(AP4E1):c.46T>C (p.Phe16Leu) rs763655101 0.00001
NM_007347.5(AP4E1):c.653A>G (p.Asp218Gly) rs1211471604 0.00001
NM_007347.5(AP4E1):c.682A>G (p.Ile228Val) rs373938768 0.00001
NM_007347.5(AP4E1):c.684A>G (p.Ile228Met) rs1238343522 0.00001
NM_007347.5(AP4E1):c.899A>T (p.Asp300Val) rs200153804 0.00001
NM_007347.5(AP4E1):c.911G>A (p.Arg304Gln) rs768086723 0.00001
NM_007347.5(AP4E1):c.979A>G (p.Ile327Val) rs750054206 0.00001
NM_014231.5(VAMP1):c.2+3G>A rs982874261 0.00001
NM_014231.5(VAMP1):c.315T>A (p.Cys105Ter) rs1237437677 0.00001
NM_014231.5(VAMP1):c.325G>A (p.Val109Met) rs147397648 0.00001
NM_014231.5(VAMP1):c.353C>T (p.Thr118Ile) rs1232673532 0.00001
NM_014231.5(VAMP1):c.98G>A (p.Arg33Gln) rs1256770289 0.00001
NM_014363.6(SACS):c.10907G>A (p.Arg3636Gln) rs281865119 0.00001
NM_014363.6(SACS):c.11150A>T (p.Lys3717Ile) rs1883567634 0.00001
NM_014363.6(SACS):c.11684T>G (p.Val3895Gly) rs766487632 0.00001
NM_014363.6(SACS):c.11738A>T (p.Asp3913Val) rs1236705431 0.00001
NM_014363.6(SACS):c.12059A>G (p.Lys4020Arg) rs1328721442 0.00001
NM_014363.6(SACS):c.1229T>C (p.Leu410Ser) rs777556535 0.00001
NM_014363.6(SACS):c.1236T>A (p.Asp412Glu) rs752472671 0.00001
NM_014363.6(SACS):c.1306G>A (p.Ala436Thr) rs1403003359 0.00001
NM_014363.6(SACS):c.1421G>A (p.Arg474His) rs1271593930 0.00001
NM_014363.6(SACS):c.1762A>G (p.Lys588Glu) rs376186273 0.00001
NM_014363.6(SACS):c.176C>G (p.Ser59Cys) rs773543202 0.00001
NM_014363.6(SACS):c.2092A>T (p.Arg698Trp) rs965068037 0.00001
NM_014363.6(SACS):c.2233C>T (p.Arg745Cys) rs536614181 0.00001
NM_014363.6(SACS):c.2581C>T (p.His861Tyr) rs759265754 0.00001
NM_014363.6(SACS):c.3261A>C (p.Leu1087Phe) rs1417936142 0.00001
NM_014363.6(SACS):c.326A>G (p.Glu109Gly) rs1317414910 0.00001
NM_014363.6(SACS):c.3391C>T (p.Leu1131Phe) rs139805032 0.00001
NM_014363.6(SACS):c.4628A>G (p.Glu1543Gly) rs370324250 0.00001
NM_014363.6(SACS):c.4639A>T (p.Arg1547Trp) rs772907934 0.00001
NM_014363.6(SACS):c.4665A>C (p.Lys1555Asn) rs769852897 0.00001
NM_014363.6(SACS):c.475T>C (p.Tyr159His) rs1305721973 0.00001
NM_014363.6(SACS):c.4782C>G (p.Asp1594Glu) rs1330036755 0.00001
NM_014363.6(SACS):c.5060C>T (p.Thr1687Ile) rs776656956 0.00001
NM_014363.6(SACS):c.593A>G (p.Tyr198Cys) rs1461096954 0.00001
NM_014363.6(SACS):c.6857A>G (p.Lys2286Arg) rs754381972 0.00001
NM_014363.6(SACS):c.7246A>G (p.Ile2416Val) rs774907744 0.00001
NM_014363.6(SACS):c.7595T>C (p.Ile2532Thr) rs1292962703 0.00001
NM_014363.6(SACS):c.7613C>T (p.Ala2538Val) rs1397645663 0.00001
NM_014363.6(SACS):c.7742C>T (p.Ala2581Val) rs866333277 0.00001
NM_014363.6(SACS):c.7981A>G (p.Ile2661Val) rs1269342975 0.00001
NM_014363.6(SACS):c.8012A>G (p.Asp2671Gly) rs373785542 0.00001
NM_014363.6(SACS):c.8132C>T (p.Ser2711Leu) rs1213203489 0.00001
NM_014363.6(SACS):c.8141C>T (p.Ser2714Leu) rs762610527 0.00001
NM_014363.6(SACS):c.818T>A (p.Phe273Tyr) rs182864646 0.00001
NM_014363.6(SACS):c.8281G>A (p.Val2761Met) rs372119773 0.00001
NM_014363.6(SACS):c.8356G>C (p.Asp2786His) rs753607639 0.00001
NM_014363.6(SACS):c.8357A>G (p.Asp2786Gly) rs1566063039 0.00001
NM_014363.6(SACS):c.8504G>A (p.Ser2835Asn) rs1382975968 0.00001
NM_014363.6(SACS):c.8956C>G (p.His2986Asp) rs751888795 0.00001
NM_014363.6(SACS):c.9008G>C (p.Gly3003Ala) rs1170753806 0.00001
NM_014363.6(SACS):c.9492A>C (p.Gln3164His) rs1025915131 0.00001
NM_014363.6(SACS):c.9731T>A (p.Leu3244His) rs886042769 0.00001
NM_015346.4(ZFYVE26):c.1153A>T (p.Arg385Trp) rs529988015 0.00001
NM_015346.4(ZFYVE26):c.1228T>C (p.Trp410Arg) rs774078953 0.00001
NM_015346.4(ZFYVE26):c.1313G>A (p.Gly438Asp) rs1566896003 0.00001
NM_015346.4(ZFYVE26):c.1378G>A (p.Glu460Lys) rs764112580 0.00001
NM_015346.4(ZFYVE26):c.1399C>G (p.Gln467Glu) rs373177554 0.00001
NM_015346.4(ZFYVE26):c.1429G>A (p.Glu477Lys) rs1365961964 0.00001
NM_015346.4(ZFYVE26):c.1776G>T (p.Glu592Asp) rs558430297 0.00001
NM_015346.4(ZFYVE26):c.1819G>A (p.Gly607Arg) rs142015707 0.00001
NM_015346.4(ZFYVE26):c.2090A>G (p.Asp697Gly) rs770934562 0.00001
NM_015346.4(ZFYVE26):c.2183G>A (p.Arg728Gln) rs770927853 0.00001
NM_015346.4(ZFYVE26):c.2309G>A (p.Arg770His) rs775959874 0.00001
NM_015346.4(ZFYVE26):c.2311C>T (p.Arg771Trp) rs772591592 0.00001
NM_015346.4(ZFYVE26):c.2402-4A>G rs748220376 0.00001
NM_015346.4(ZFYVE26):c.2588G>A (p.Ser863Asn) rs750021215 0.00001
NM_015346.4(ZFYVE26):c.2594G>C (p.Gly865Ala) rs181520084 0.00001
NM_015346.4(ZFYVE26):c.2663A>G (p.Glu888Gly) rs759516757 0.00001
NM_015346.4(ZFYVE26):c.2698C>T (p.Arg900Trp) rs756918932 0.00001
NM_015346.4(ZFYVE26):c.2773A>G (p.Ile925Val) rs776812324 0.00001
NM_015346.4(ZFYVE26):c.2777C>G (p.Ser926Cys) rs769154501 0.00001
NM_015346.4(ZFYVE26):c.2867C>T (p.Pro956Leu) rs764476863 0.00001
NM_015346.4(ZFYVE26):c.2939C>G (p.Ser980Cys) rs1194352785 0.00001
NM_015346.4(ZFYVE26):c.295C>T (p.Arg99Trp) rs779962087 0.00001
NM_015346.4(ZFYVE26):c.2974T>G (p.Leu992Val) rs779865214 0.00001
NM_015346.4(ZFYVE26):c.3016C>T (p.Arg1006Trp) rs748367345 0.00001
NM_015346.4(ZFYVE26):c.3062G>A (p.Arg1021Gln) rs777945768 0.00001
NM_015346.4(ZFYVE26):c.3064G>C (p.Gly1022Arg) rs2039651283 0.00001
NM_015346.4(ZFYVE26):c.3104A>G (p.Asn1035Ser) rs1367522203 0.00001
NM_015346.4(ZFYVE26):c.3384G>C (p.Gln1128His) rs1413616312 0.00001
NM_015346.4(ZFYVE26):c.3458G>A (p.Gly1153Asp) rs199845933 0.00001
NM_015346.4(ZFYVE26):c.4006T>C (p.Trp1336Arg) rs755562098 0.00001
NM_015346.4(ZFYVE26):c.409G>A (p.Asp137Asn) rs778916063 0.00001
NM_015346.4(ZFYVE26):c.4118C>T (p.Ala1373Val) rs772325933 0.00001
NM_015346.4(ZFYVE26):c.4133G>A (p.Arg1378Gln) rs554542236 0.00001
NM_015346.4(ZFYVE26):c.4154A>G (p.Gln1385Arg) rs1346418518 0.00001
NM_015346.4(ZFYVE26):c.4336A>G (p.Ile1446Val) rs773755777 0.00001
NM_015346.4(ZFYVE26):c.4427G>A (p.Arg1476Gln) rs202124427 0.00001
NM_015346.4(ZFYVE26):c.4452G>C (p.Arg1484Ser) rs368241137 0.00001
NM_015346.4(ZFYVE26):c.4594G>T (p.Val1532Leu) rs1171607580 0.00001
NM_015346.4(ZFYVE26):c.4639C>A (p.Pro1547Thr) rs760352672 0.00001
NM_015346.4(ZFYVE26):c.4642T>C (p.Ser1548Pro) rs1035720966 0.00001
NM_015346.4(ZFYVE26):c.467T>C (p.Val156Ala) rs750974953 0.00001
NM_015346.4(ZFYVE26):c.4737C>G (p.Ser1579Arg) rs762109249 0.00001
NM_015346.4(ZFYVE26):c.476A>G (p.Asp159Gly) rs1385627000 0.00001
NM_015346.4(ZFYVE26):c.5108A>G (p.Gln1703Arg) rs2039330775 0.00001
NM_015346.4(ZFYVE26):c.520C>G (p.Leu174Val) rs767276252 0.00001
NM_015346.4(ZFYVE26):c.5402C>T (p.Ala1801Val) rs373003258 0.00001
NM_015346.4(ZFYVE26):c.5518C>T (p.Arg1840Trp) rs761008228 0.00001
NM_015346.4(ZFYVE26):c.5791-3C>T rs1334379838 0.00001
NM_015346.4(ZFYVE26):c.5962A>G (p.Met1988Val) rs1401147510 0.00001
NM_015346.4(ZFYVE26):c.6111G>C (p.Arg2037Ser) rs775284584 0.00001
NM_015346.4(ZFYVE26):c.6235C>T (p.Leu2079Phe) rs1335661950 0.00001
NM_015346.4(ZFYVE26):c.6261T>G (p.Ser2087Arg) rs762604883 0.00001
NM_015346.4(ZFYVE26):c.655T>A (p.Tyr219Asn) rs746240532 0.00001
NM_015346.4(ZFYVE26):c.6679A>G (p.Ile2227Val) rs1018266195 0.00001
NM_015346.4(ZFYVE26):c.6757A>G (p.Ile2253Val) rs202150854 0.00001
NM_015346.4(ZFYVE26):c.6786+5T>C rs863224770 0.00001
NM_015346.4(ZFYVE26):c.6817C>T (p.Arg2273Trp) rs745597104 0.00001
NM_015346.4(ZFYVE26):c.686C>A (p.Ala229Glu) rs199969454 0.00001
NM_015346.4(ZFYVE26):c.68G>A (p.Cys23Tyr) rs757919696 0.00001
NM_015346.4(ZFYVE26):c.6920C>T (p.Ser2307Phe) rs769908270 0.00001
NM_015346.4(ZFYVE26):c.7037G>A (p.Arg2346Gln) rs759075168 0.00001
NM_015346.4(ZFYVE26):c.7220G>A (p.Cys2407Tyr) rs760422569 0.00001
NM_015346.4(ZFYVE26):c.7318G>A (p.Gly2440Arg) rs573535673 0.00001
NM_015346.4(ZFYVE26):c.7364C>T (p.Pro2455Leu) rs751465927 0.00001
NM_015346.4(ZFYVE26):c.7371+3A>G rs763064457 0.00001
NM_015346.4(ZFYVE26):c.7372-18T>A rs372886417 0.00001
NM_015346.4(ZFYVE26):c.7411A>G (p.Asn2471Asp) rs868606135 0.00001
NM_015346.4(ZFYVE26):c.7598A>G (p.His2533Arg) rs750842669 0.00001
NM_015346.4(ZFYVE26):c.79G>A (p.Gly27Arg) rs756912219 0.00001
NM_015346.4(ZFYVE26):c.824A>G (p.Tyr275Cys) rs376544044 0.00001
NM_015346.4(ZFYVE26):c.878C>T (p.Ser293Leu) rs374866062 0.00001
NM_015346.4(ZFYVE26):c.952G>A (p.Glu318Lys) rs758568084 0.00001
NM_015346.4(ZFYVE26):c.956C>T (p.Ala319Val) rs765552636 0.00001
NM_020435.4(GJC2):c.1027G>T (p.Ala343Ser) rs1021631118 0.00001
NM_020435.4(GJC2):c.1028C>T (p.Ala343Val) rs1157071248 0.00001
NM_020435.4(GJC2):c.102C>A (p.Phe34Leu) rs1170317766 0.00001
NM_020435.4(GJC2):c.1038T>A (p.His346Gln) rs559021726 0.00001
NM_020435.4(GJC2):c.1058T>C (p.Leu353Pro) rs905863745 0.00001
NM_020435.4(GJC2):c.1102G>A (p.Asp368Asn) rs779067650 0.00001
NM_020435.4(GJC2):c.1208T>C (p.Val403Ala) rs1310388444 0.00001
NM_020435.4(GJC2):c.1219G>A (p.Gly407Ser) rs758530794 0.00001
NM_020435.4(GJC2):c.1222C>T (p.Arg408Trp) rs918865729 0.00001
NM_020435.4(GJC2):c.1228G>A (p.Gly410Ser) rs780938071 0.00001
NM_020435.4(GJC2):c.1241G>T (p.Arg414Leu) rs775352391 0.00001
NM_020435.4(GJC2):c.127G>A (p.Gly43Ser) rs761544365 0.00001
NM_020435.4(GJC2):c.1293G>C (p.Arg431Ser) rs765571379 0.00001
NM_020435.4(GJC2):c.328C>G (p.Arg110Gly) rs1203025597 0.00001
NM_020435.4(GJC2):c.331C>T (p.Arg111Cys) rs914561394 0.00001
NM_020435.4(GJC2):c.434A>T (p.Glu145Val) rs1250327843 0.00001
NM_020435.4(GJC2):c.448C>G (p.Leu150Val) rs1558119730 0.00001
NM_020435.4(GJC2):c.546_566dup (p.Ala184_Gly190dup) rs758571008 0.00001
NM_020435.4(GJC2):c.595G>A (p.Asp199Asn) rs772486962 0.00001
NM_020435.4(GJC2):c.697C>G (p.Leu233Val) rs1359291468 0.00001
NM_020435.4(GJC2):c.739C>T (p.Arg247Cys) rs1057523987 0.00001
NM_020944.3(GBA2):c.1030G>C (p.Ala344Pro) rs750984776 0.00001
NM_020944.3(GBA2):c.1036A>G (p.Thr346Ala) rs762266200 0.00001
NM_020944.3(GBA2):c.1073C>T (p.Thr358Met) rs372699319 0.00001
NM_020944.3(GBA2):c.1723C>T (p.Arg575Trp) rs146085561 0.00001
NM_020944.3(GBA2):c.1724G>A (p.Arg575Gln) rs754998392 0.00001
NM_020944.3(GBA2):c.1784T>C (p.Ile595Thr) rs1035304750 0.00001
NM_020944.3(GBA2):c.1905G>A (p.Thr635=) rs369401526 0.00001
NM_020944.3(GBA2):c.2014G>A (p.Ala672Thr) rs1313074779 0.00001
NM_020944.3(GBA2):c.2027A>G (p.Tyr676Cys) rs1301982587 0.00001
NM_020944.3(GBA2):c.2173G>A (p.Ala725Thr) rs1273177779 0.00001
NM_020944.3(GBA2):c.2564G>A (p.Arg855His) rs762268140 0.00001
NM_020944.3(GBA2):c.2699G>A (p.Trp900Ter) rs767031907 0.00001
NM_020944.3(GBA2):c.2702C>G (p.Pro901Arg) rs754527190 0.00001
NM_020944.3(GBA2):c.341A>G (p.His114Arg) rs1247383766 0.00001
NM_020944.3(GBA2):c.480C>T (p.Gly160=) rs1473026472 0.00001
NM_020944.3(GBA2):c.548G>A (p.Arg183Gln) rs202051129 0.00001
NM_020944.3(GBA2):c.704C>G (p.Ala235Gly) rs1387168151 0.00001
NM_024306.5(FA2H):c.1055C>T (p.Thr352Ile) rs375479162 0.00001
NM_024306.5(FA2H):c.106C>G (p.Leu36Val) rs1294196562 0.00001
NM_024306.5(FA2H):c.335C>T (p.Pro112Leu) rs749305581 0.00001
NM_024306.5(FA2H):c.451A>G (p.Arg151Gly) rs753898846 0.00001
NM_024306.5(FA2H):c.635A>G (p.Lys212Arg) rs759577964 0.00001
NM_024306.5(FA2H):c.649G>A (p.Gly217Arg) rs775750642 0.00001
NM_024306.5(FA2H):c.64G>A (p.Ala22Thr) rs970436944 0.00001
NM_024306.5(FA2H):c.672C>A (p.Phe224Leu) rs376180814 0.00001
NM_024306.5(FA2H):c.701A>C (p.His234Pro) rs1961773594 0.00001
NM_024306.5(FA2H):c.718A>G (p.Met240Val) rs367933620 0.00001
NM_024306.5(FA2H):c.763G>A (p.Val255Ile) rs773459488 0.00001
NM_024306.5(FA2H):c.782A>G (p.His261Arg) rs761645282 0.00001
NM_024306.5(FA2H):c.795C>T (p.Phe265=) rs886043274 0.00001
NM_024306.5(FA2H):c.805C>T (p.Arg269Cys) rs943671314 0.00001
NM_024306.5(FA2H):c.80T>A (p.Val27Asp) rs1406286523 0.00001
NM_024306.5(FA2H):c.874C>G (p.Leu292Val) rs772704885 0.00001
NM_024306.5(FA2H):c.957C>G (p.His319Gln) rs1293252892 0.00001
NM_024306.5(FA2H):c.965C>T (p.Ser322Leu) rs373010581 0.00001
NM_183075.3(CYP2U1):c.1033A>G (p.Ile345Val) rs771350413 0.00001
NM_183075.3(CYP2U1):c.1178C>T (p.Ser393Phe) rs1374309961 0.00001
NM_183075.3(CYP2U1):c.1219A>G (p.Ile407Val) rs1560702525 0.00001
NM_183075.3(CYP2U1):c.1323G>C (p.Leu441Phe) rs770180255 0.00001
NM_183075.3(CYP2U1):c.1481A>G (p.Gln494Arg) rs1036607521 0.00001
NM_183075.3(CYP2U1):c.200C>T (p.Pro67Leu) rs1286338215 0.00001
NM_183075.3(CYP2U1):c.206T>C (p.Val69Ala) rs1467659782 0.00001
NM_183075.3(CYP2U1):c.267C>T (p.Ser89=) rs1470602766 0.00001
NM_183075.3(CYP2U1):c.29C>A (p.Pro10Gln) rs752252347 0.00001
NM_183075.3(CYP2U1):c.302T>C (p.Ile101Thr) rs1053725607 0.00001
NM_183075.3(CYP2U1):c.317T>C (p.Leu106Pro) rs1182340707 0.00001
NM_183075.3(CYP2U1):c.472A>C (p.Ile158Leu) rs1459143146 0.00001
NM_183075.3(CYP2U1):c.502G>A (p.Ala168Thr) rs369682117 0.00001
NM_183075.3(CYP2U1):c.508T>C (p.Tyr170His) rs1310829853 0.00001
NM_183075.3(CYP2U1):c.557G>A (p.Arg186His) rs746319505 0.00001
NM_183075.3(CYP2U1):c.565G>C (p.Gly189Arg) rs1401706343 0.00001
NC_000001.10:g.(?_228337558)_(228346779_?)dup
NC_000001.10:g.(?_228345440)_(228363234_?)dup
NC_000002.11:g.(?_198351760)_(198363582_?)dup
NC_000002.11:g.(?_198351770)_(198351942_?)dup
NC_000003.11:g.(?_155545999)_(155560428_?)dup
NC_000003.11:g.(?_155570992)_(155571786_?)dup
NC_000004.12:g.(?_107944960)_(107950433_?)dup
NC_000008.10:g.(?_37595441)_(38961219_?)dup
NC_000008.10:g.(?_65509199)_(65711144_?)dup
NC_000012.11:g.(?_57906514)_(57976962_?)dup
NC_000012.11:g.(?_57960889)_(57965192_?)dup
NC_000012.11:g.(?_57971476)_(58025915_?)dup
NC_000012.11:g.(?_6573636)_(6579697_?)dup
NC_000013.10:g.(?_23667335)_(23985398_?)dup
NC_000013.10:g.(?_23667335)_(24463459_?)dup
NC_000014.8:g.(?_31549759)_(31554088_?)dup
NC_000014.8:g.(?_68145038)_(68282680_?)dup
NC_000014.8:g.(?_68189360)_(68260976_?)dup
NC_000014.8:g.(?_68217749)_(68222882_?)del
NC_000014.8:g.(?_68228063)_(68282680_?)dup
NC_000014.9:g.(?_67748426)_(67790783_?)dup
NC_000015.9:g.(?_51200976)_(51226914_?)dup
NC_000016.9:g.(?_74485954)_(75339100_?)dup
NC_000023.10:g.(?_152954030)_(153283591_?)dup
NC_000023.10:g.(?_53222149)_(53461292_?)dup
NC_000023.10:g.(?_73641453)_(73751408_?)dup
NM_001012301.4(ARSI):c.1015C>T (p.Arg339Trp)
NM_001012301.4(ARSI):c.1063G>A (p.Val355Met)
NM_001012301.4(ARSI):c.1100G>T (p.Gly367Val)
NM_001012301.4(ARSI):c.1114G>C (p.Asp372His) rs150211860
NM_001012301.4(ARSI):c.1117G>A (p.Val373Met)
NM_001012301.4(ARSI):c.113A>T (p.Gln38Leu) rs1554126383
NM_001012301.4(ARSI):c.1154G>T (p.Arg385Leu) rs758238707
NM_001012301.4(ARSI):c.119C>G (p.Ser40Trp) rs373063727
NM_001012301.4(ARSI):c.1231T>G (p.Trp411Gly) rs1249725578
NM_001012301.4(ARSI):c.1240G>A (p.Ala414Thr)
NM_001012301.4(ARSI):c.1240G>T (p.Ala414Ser) rs745663592
NM_001012301.4(ARSI):c.1247A>C (p.Gln416Pro)
NM_001012301.4(ARSI):c.1376G>A (p.Arg459His)
NM_001012301.4(ARSI):c.1376G>C (p.Arg459Pro) rs140478189
NM_001012301.4(ARSI):c.1421G>A (p.Arg474Gln)
NM_001012301.4(ARSI):c.1421G>C (p.Arg474Pro) rs149473787
NM_001012301.4(ARSI):c.1441C>T (p.Arg481Trp) rs1217868286
NM_001012301.4(ARSI):c.1480G>T (p.Glu494Ter) rs772103557
NM_001012301.4(ARSI):c.1489C>G (p.Arg497Gly) rs199613569
NM_001012301.4(ARSI):c.1490G>A (p.Arg497His) rs771311478
NM_001012301.4(ARSI):c.1528C>T (p.Arg510Trp)
NM_001012301.4(ARSI):c.1541A>G (p.Asp514Gly) rs1562223237
NM_001012301.4(ARSI):c.1571C>T (p.Ala524Val)
NM_001012301.4(ARSI):c.1594G>A (p.Glu532Lys)
NM_001012301.4(ARSI):c.1621C>T (p.Arg541Trp)
NM_001012301.4(ARSI):c.1660C>T (p.Arg554Ter)
NM_001012301.4(ARSI):c.184G>A (p.Val62Met)
NM_001012301.4(ARSI):c.287C>A (p.Ser96Ter)
NM_001012301.4(ARSI):c.289C>T (p.Arg97Trp)
NM_001012301.4(ARSI):c.374C>A (p.Pro125His)
NM_001012301.4(ARSI):c.406C>T (p.Gln136Ter)
NM_001012301.4(ARSI):c.46G>A (p.Gly16Ser)
NM_001012301.4(ARSI):c.482G>A (p.Arg161His) rs142729073
NM_001012301.4(ARSI):c.776C>T (p.Ala259Val)
NM_001012301.4(ARSI):c.782G>A (p.Arg261Gln)
NM_001012301.4(ARSI):c.847C>T (p.Arg283Cys)
NM_001012301.4(ARSI):c.862A>G (p.Asn288Asp)
NM_001012301.4(ARSI):c.908del (p.Phe303fs) rs771488404
NM_001012301.4(ARSI):c.916G>A (p.Gly306Ser) rs2150320319
NM_001012301.4(ARSI):c.934C>T (p.Arg312Ter)
NM_001012301.4(ARSI):c.946G>A (p.Gly316Ser) rs2150320297
NM_001128126.3(AP4S1):c.125G>A (p.Arg42Gln)
NM_001128126.3(AP4S1):c.175T>C (p.Tyr59His) rs762806583
NM_001128126.3(AP4S1):c.225+5G>A rs2139056526
NM_001128126.3(AP4S1):c.225G>C (p.Glu75Asp)
NM_001128126.3(AP4S1):c.290G>T (p.Arg97Leu) rs183487893
NM_001128126.3(AP4S1):c.306+40A>G rs757190469
NM_001128126.3(AP4S1):c.306+4297G>C
NM_001128126.3(AP4S1):c.306+50G>C rs1315033150
NM_001128126.3(AP4S1):c.34G>A (p.Gly12Arg)
NM_001128126.3(AP4S1):c.86C>G (p.Thr29Arg)
NM_001128126.3(AP4S1):c.98C>G (p.Thr33Arg) rs763713689
NM_001278116.2(L1CAM):c.1040G>A (p.Gly347Glu) rs2064751491
NM_001278116.2(L1CAM):c.1057G>A (p.Asp353Asn)
NM_001278116.2(L1CAM):c.1064A>G (p.Gln355Arg)
NM_001278116.2(L1CAM):c.1100G>A (p.Arg367Lys) rs2064751060
NM_001278116.2(L1CAM):c.1123+3G>A
NM_001278116.2(L1CAM):c.1143G>C (p.Lys381Asn) rs1185735801
NM_001278116.2(L1CAM):c.1153C>G (p.Gln385Glu)
NM_001278116.2(L1CAM):c.1224C>G (p.Asn408Lys) rs994675918
NM_001278116.2(L1CAM):c.1268A>G (p.Gln423Arg)
NM_001278116.2(L1CAM):c.1294G>A (p.Asp432Asn)
NM_001278116.2(L1CAM):c.130C>T (p.Arg44Cys) rs370782270
NM_001278116.2(L1CAM):c.132_133delinsAA (p.Leu45Met)
NM_001278116.2(L1CAM):c.1386C>A (p.Asp462Glu)
NM_001278116.2(L1CAM):c.1399A>G (p.Thr467Ala)
NM_001278116.2(L1CAM):c.1546G>A (p.Asp516Asn) rs782367931
NM_001278116.2(L1CAM):c.1552A>G (p.Thr518Ala)
NM_001278116.2(L1CAM):c.1641G>C (p.Leu547Phe)
NM_001278116.2(L1CAM):c.1678C>T (p.Leu560Phe) rs1414810082
NM_001278116.2(L1CAM):c.1691_1703+3dup
NM_001278116.2(L1CAM):c.16C>T (p.Arg6Trp)
NM_001278116.2(L1CAM):c.176C>T (p.Ala59Val) rs2148500384
NM_001278116.2(L1CAM):c.1786G>C (p.Glu596Gln) rs137940405
NM_001278116.2(L1CAM):c.179G>T (p.Ser60Ile)
NM_001278116.2(L1CAM):c.1855G>T (p.Val619Leu)
NM_001278116.2(L1CAM):c.1913C>A (p.Ala638Glu) rs2148495969
NM_001278116.2(L1CAM):c.1939+5G>A rs879253716
NM_001278116.2(L1CAM):c.2012A>G (p.Asn671Ser)
NM_001278116.2(L1CAM):c.2018C>T (p.Thr673Ile)
NM_001278116.2(L1CAM):c.203G>T (p.Arg68Leu) rs2064778846
NM_001278116.2(L1CAM):c.2042C>T (p.Pro681Leu) rs1557091354
NM_001278116.2(L1CAM):c.2078A>T (p.Asn693Ile)
NM_001278116.2(L1CAM):c.2099C>A (p.Pro700His)
NM_001278116.2(L1CAM):c.2117C>T (p.Thr706Ile)
NM_001278116.2(L1CAM):c.2195T>A (p.Val732Asp) rs1569544718
NM_001278116.2(L1CAM):c.2236C>T (p.Pro746Ser)
NM_001278116.2(L1CAM):c.2258_2263dup (p.Gln753_Trp754dup) rs2064718045
NM_001278116.2(L1CAM):c.2260T>C (p.Trp754Arg)
NM_001278116.2(L1CAM):c.2291A>G (p.Gln764Arg)
NM_001278116.2(L1CAM):c.22G>C (p.Val8Leu)
NM_001278116.2(L1CAM):c.2300T>C (p.Ile767Thr) rs1569544704
NM_001278116.2(L1CAM):c.2329A>C (p.Asn777His)
NM_001278116.2(L1CAM):c.2381A>G (p.Gln794Arg)
NM_001278116.2(L1CAM):c.2389G>A (p.Gly797Arg)
NM_001278116.2(L1CAM):c.2402A>G (p.Gln801Arg)
NM_001278116.2(L1CAM):c.2419T>C (p.Ser807Pro)
NM_001278116.2(L1CAM):c.247G>A (p.Gly83Ser)
NM_001278116.2(L1CAM):c.2504C>T (p.Pro835Leu)
NM_001278116.2(L1CAM):c.250G>T (p.Val84Leu)
NM_001278116.2(L1CAM):c.2541A>G (p.Gly847=) rs2148494333
NM_001278116.2(L1CAM):c.2562G>T (p.Arg854Ser) rs1032992615
NM_001278116.2(L1CAM):c.2572C>A (p.Gln858Lys)
NM_001278116.2(L1CAM):c.2581_2589del (p.His861_Lys863del)
NM_001278116.2(L1CAM):c.2584A>G (p.Ser862Gly) rs2148494141
NM_001278116.2(L1CAM):c.2593C>G (p.His865Asp)
NM_001278116.2(L1CAM):c.2597T>A (p.Ile866Asn)
NM_001278116.2(L1CAM):c.2674C>G (p.His892Asp) rs2148494073
NM_001278116.2(L1CAM):c.2720G>A (p.Ser907Asn)
NM_001278116.2(L1CAM):c.2747G>A (p.Gly916Glu)
NM_001278116.2(L1CAM):c.2837G>A (p.Gly946Asp)
NM_001278116.2(L1CAM):c.2848G>A (p.Gly950Ser) rs1569544662
NM_001278116.2(L1CAM):c.2852A>G (p.Tyr951Cys)
NM_001278116.2(L1CAM):c.2872+3G>A
NM_001278116.2(L1CAM):c.289A>G (p.Ile97Val)
NM_001278116.2(L1CAM):c.2996A>C (p.Glu999Ala)
NM_001278116.2(L1CAM):c.2999G>A (p.Gly1000Asp) rs2148493606
NM_001278116.2(L1CAM):c.3014T>C (p.Ile1005Thr) rs398123365
NM_001278116.2(L1CAM):c.3046+5G>C
NM_001278116.2(L1CAM):c.3095G>A (p.Ser1032Asn) rs2148493445
NM_001278116.2(L1CAM):c.3100G>A (p.Val1034Ile)
NM_001278116.2(L1CAM):c.31CTC[2] (p.Leu13del) rs2064809071
NM_001278116.2(L1CAM):c.3235G>A (p.Asp1079Asn)
NM_001278116.2(L1CAM):c.3257A>C (p.Tyr1086Ser) rs2148493224
NM_001278116.2(L1CAM):c.3316G>A (p.Gly1106Ser)
NM_001278116.2(L1CAM):c.3370A>T (p.Ile1124Phe)
NM_001278116.2(L1CAM):c.3457+5C>T
NM_001278116.2(L1CAM):c.3520G>A (p.Gly1174Ser)
NM_001278116.2(L1CAM):c.3589G>A (p.Gly1197Arg)
NM_001278116.2(L1CAM):c.3626C>A (p.Ala1209Asp)
NM_001278116.2(L1CAM):c.3721A>G (p.Asn1241Asp)
NM_001278116.2(L1CAM):c.3734G>A (p.Gly1245Glu) rs2148491886
NM_001278116.2(L1CAM):c.3752A>C (p.Asn1251Thr)
NM_001278116.2(L1CAM):c.3773A>T (p.Ter1258Leu)
NM_001278116.2(L1CAM):c.400+4C>T
NM_001278116.2(L1CAM):c.452G>C (p.Gly151Ala) rs1064796291
NM_001278116.2(L1CAM):c.454G>A (p.Glu152Lys)
NM_001278116.2(L1CAM):c.484C>G (p.Pro162Ala)
NM_001278116.2(L1CAM):c.487A>G (p.Ser163Gly) rs1603276226
NM_001278116.2(L1CAM):c.496C>G (p.Pro166Ala)
NM_001278116.2(L1CAM):c.64A>G (p.Ile22Val)
NM_001278116.2(L1CAM):c.66C>G (p.Ile22Met) rs1557094388
NM_001278116.2(L1CAM):c.751C>G (p.His251Asp)
NM_001278116.2(L1CAM):c.806+6_806+54delinsAGGAGAGCGCTCAGGAAGCAGAAAGCTCAGGGAGGATGGAATGCGAAGGGAAAACCCCAGGGAAAAGGCGACACAGATCAAGA
NM_001278116.2(L1CAM):c.806T>C (p.Phe269Ser)
NM_001278116.2(L1CAM):c.807-4G>T
NM_001278116.2(L1CAM):c.809C>T (p.Pro270Leu) rs2148498057
NM_001278116.2(L1CAM):c.863T>C (p.Val288Ala)
NM_001278116.2(L1CAM):c.919_920delinsTT (p.Asp307Phe)
NM_001278116.2(L1CAM):c.958A>G (p.Ser320Gly)
NM_001385875.1(ZFYVE27):c.1019A>G (p.Lys340Arg)
NM_001385875.1(ZFYVE27):c.1024T>C (p.Tyr342His)
NM_001385875.1(ZFYVE27):c.1061C>T (p.Ser354Leu)
NM_001385875.1(ZFYVE27):c.1064C>G (p.Ala355Gly) rs2048607269
NM_001385875.1(ZFYVE27):c.1159A>C (p.Met387Leu) rs1590113165
NM_001385875.1(ZFYVE27):c.1211C>T (p.Ser404Leu)
NM_001385875.1(ZFYVE27):c.187T>C (p.Tyr63His)
NM_001385875.1(ZFYVE27):c.198-1G>A
NM_001385875.1(ZFYVE27):c.290C>T (p.Ala97Val)
NM_001385875.1(ZFYVE27):c.341G>A (p.Arg114Gln)
NM_001385875.1(ZFYVE27):c.367A>T (p.Met123Leu)
NM_001385875.1(ZFYVE27):c.416G>C (p.Arg139Pro)
NM_001385875.1(ZFYVE27):c.49G>A (p.Val17Met)
NM_001385875.1(ZFYVE27):c.661del (p.Arg221fs)
NM_001385875.1(ZFYVE27):c.662G>A (p.Arg221Gln)
NM_001385875.1(ZFYVE27):c.736C>T (p.Pro246Ser)
NM_001385875.1(ZFYVE27):c.787G>A (p.Ala263Thr) rs2136198619
NM_001385875.1(ZFYVE27):c.804+1G>C rs369834453
NM_001385875.1(ZFYVE27):c.805-27C>T
NM_001385875.1(ZFYVE27):c.953A>G (p.Asn318Ser)
NM_001478.5(B4GALNT1):c.1002G>T (p.Lys334Asn) rs1471760048
NM_001478.5(B4GALNT1):c.1011C>T (p.Phe337=)
NM_001478.5(B4GALNT1):c.1052A>C (p.Tyr351Ser)
NM_001478.5(B4GALNT1):c.1061_1063del (p.Trp354_Val355delinsLeu)
NM_001478.5(B4GALNT1):c.1069G>C (p.Asp357His)
NM_001478.5(B4GALNT1):c.1071C>A (p.Asp357Glu)
NM_001478.5(B4GALNT1):c.1085C>T (p.Thr362Met)
NM_001478.5(B4GALNT1):c.1114_1119del (p.Asp372_Val373del) rs771698791
NM_001478.5(B4GALNT1):c.1124A>C (p.Glu375Ala) rs754757482
NM_001478.5(B4GALNT1):c.1147G>C (p.Gly383Arg) rs952948389
NM_001478.5(B4GALNT1):c.1178C>T (p.Ala393Val)
NM_001478.5(B4GALNT1):c.1190G>C (p.Arg397Pro)
NM_001478.5(B4GALNT1):c.1203C>A (p.Ser401Arg)
NM_001478.5(B4GALNT1):c.1204G>C (p.Val402Leu)
NM_001478.5(B4GALNT1):c.1210C>T (p.Pro404Ser)
NM_001478.5(B4GALNT1):c.1217C>A (p.Ala406Asp) rs2140243098
NM_001478.5(B4GALNT1):c.1315T>C (p.Phe439Leu)
NM_001478.5(B4GALNT1):c.1317C>A (p.Phe439Leu)
NM_001478.5(B4GALNT1):c.1378C>T (p.His460Tyr) rs1594978157
NM_001478.5(B4GALNT1):c.1384+3G>A
NM_001478.5(B4GALNT1):c.1384+7G>A
NM_001478.5(B4GALNT1):c.1389C>A (p.Phe463Leu)
NM_001478.5(B4GALNT1):c.1390T>C (p.Phe464Leu)
NM_001478.5(B4GALNT1):c.1395G>A (p.Leu465=) rs1330953460
NM_001478.5(B4GALNT1):c.139C>T (p.Arg47Cys)
NM_001478.5(B4GALNT1):c.1432G>A (p.Asp478Asn) rs762763123
NM_001478.5(B4GALNT1):c.1438G>A (p.Val480Met) rs747864083
NM_001478.5(B4GALNT1):c.1438G>T (p.Val480Leu) rs747864083
NM_001478.5(B4GALNT1):c.14G>A (p.Arg5His)
NM_001478.5(B4GALNT1):c.1533C>G (p.Asp511Glu)
NM_001478.5(B4GALNT1):c.1541A>G (p.Gln514Arg)
NM_001478.5(B4GALNT1):c.1556G>C (p.Arg519Pro) rs751593187
NM_001478.5(B4GALNT1):c.19G>A (p.Ala7Thr)
NM_001478.5(B4GALNT1):c.217G>A (p.Gly73Arg) rs867792876
NM_001478.5(B4GALNT1):c.218G>C (p.Gly73Ala)
NM_001478.5(B4GALNT1):c.219-7C>A rs138590413
NM_001478.5(B4GALNT1):c.236A>G (p.Asn79Ser)
NM_001478.5(B4GALNT1):c.245G>A (p.Cys82Tyr) rs1885201541
NM_001478.5(B4GALNT1):c.256G>A (p.Gly86Arg)
NM_001478.5(B4GALNT1):c.256G>T (p.Gly86Trp) rs919097197
NM_001478.5(B4GALNT1):c.258G>A (p.Gly86=)
NM_001478.5(B4GALNT1):c.260G>A (p.Gly87Glu) rs1426969942
NM_001478.5(B4GALNT1):c.28G>T (p.Ala10Ser)
NM_001478.5(B4GALNT1):c.323C>T (p.Pro108Leu)
NM_001478.5(B4GALNT1):c.357G>T (p.Glu119Asp)
NM_001478.5(B4GALNT1):c.391T>C (p.Ser131Pro)
NM_001478.5(B4GALNT1):c.460G>A (p.Val154Ile)
NM_001478.5(B4GALNT1):c.466C>T (p.Pro156Ser)
NM_001478.5(B4GALNT1):c.503A>G (p.Gln168Arg) rs2140250034
NM_001478.5(B4GALNT1):c.514G>A (p.Gly172Ser) rs810205
NM_001478.5(B4GALNT1):c.531+5G>A
NM_001478.5(B4GALNT1):c.589A>G (p.Thr197Ala)
NM_001478.5(B4GALNT1):c.592C>T (p.Leu198Phe) rs928391643
NM_001478.5(B4GALNT1):c.5G>T (p.Trp2Leu)
NM_001478.5(B4GALNT1):c.644A>G (p.Gln215Arg)
NM_001478.5(B4GALNT1):c.67C>G (p.Leu23Val)
NM_001478.5(B4GALNT1):c.683G>A (p.Arg228Gln)
NM_001478.5(B4GALNT1):c.754C>A (p.Arg252Ser)
NM_001478.5(B4GALNT1):c.778C>G (p.Arg260Gly)
NM_001478.5(B4GALNT1):c.807G>C (p.Gln269His) rs2140246556
NM_001478.5(B4GALNT1):c.80C>A (p.Thr27Asn)
NM_001478.5(B4GALNT1):c.830C>G (p.Ala277Gly)
NM_001478.5(B4GALNT1):c.866A>T (p.Tyr289Phe)
NM_001478.5(B4GALNT1):c.914C>T (p.Thr305Met)
NM_001478.5(B4GALNT1):c.943G>A (p.Asp315Asn)
NM_001478.5(B4GALNT1):c.991C>T (p.Pro331Ser)
NM_002156.5(HSPD1):c.1022A>C (p.Asp341Ala)
NM_002156.5(HSPD1):c.1067T>G (p.Met356Arg) rs2106071590
NM_002156.5(HSPD1):c.1089C>G (p.Asp363Glu)
NM_002156.5(HSPD1):c.1090A>G (p.Lys364Glu)
NM_002156.5(HSPD1):c.1109G>A (p.Arg370His)
NM_002156.5(HSPD1):c.110G>A (p.Arg37Gln)
NM_002156.5(HSPD1):c.1130A>G (p.Gln377Arg)
NM_002156.5(HSPD1):c.1157A>C (p.Glu386Ala)
NM_002156.5(HSPD1):c.1175A>G (p.Glu392Gly)
NM_002156.5(HSPD1):c.1180C>T (p.Leu394Phe)
NM_002156.5(HSPD1):c.1186A>G (p.Lys396Glu)
NM_002156.5(HSPD1):c.1189C>G (p.Leu397Val)
NM_002156.5(HSPD1):c.120G>C (p.Met40Ile)
NM_002156.5(HSPD1):c.122T>C (p.Leu41Pro)
NM_002156.5(HSPD1):c.12A>T (p.Leu4Phe)
NM_002156.5(HSPD1):c.130G>A (p.Val44Ile) rs2086193983
NM_002156.5(HSPD1):c.1324T>C (p.Cys442Arg) rs1553577750
NM_002156.5(HSPD1):c.1391-12A>G
NM_002156.5(HSPD1):c.1393A>G (p.Ile465Val) rs1395703930
NM_002156.5(HSPD1):c.1429A>G (p.Met477Val)
NM_002156.5(HSPD1):c.1443G>C (p.Lys481Asn)
NM_002156.5(HSPD1):c.1462T>A (p.Ser488Thr)
NM_002156.5(HSPD1):c.1474G>C (p.Glu492Gln) rs1390512592
NM_002156.5(HSPD1):c.1530T>A (p.Phe510Leu)
NM_002156.5(HSPD1):c.1556T>C (p.Ile519Thr) rs2086045656
NM_002156.5(HSPD1):c.1565C>G (p.Thr522Arg)
NM_002156.5(HSPD1):c.1607C>T (p.Ala536Val) rs863224878
NM_002156.5(HSPD1):c.1651A>G (p.Lys551Glu)
NM_002156.5(HSPD1):c.1661A>T (p.Lys554Met)
NM_002156.5(HSPD1):c.1676G>A (p.Gly559Asp)
NM_002156.5(HSPD1):c.1701_1712del (p.565GGGM[1]) rs879486164
NM_002156.5(HSPD1):c.238G>A (p.Val80Ile)
NM_002156.5(HSPD1):c.248C>A (p.Ser83Ter) rs2086171680
NM_002156.5(HSPD1):c.253G>T (p.Asp85Tyr)
NM_002156.5(HSPD1):c.264T>G (p.Asp88Glu) rs747360903
NM_002156.5(HSPD1):c.307A>C (p.Asn103His) rs2106079220
NM_002156.5(HSPD1):c.30G>C (p.Gln10His) rs774482203
NM_002156.5(HSPD1):c.398A>G (p.Lys133Arg)
NM_002156.5(HSPD1):c.445G>C (p.Asp149His) rs781225976
NM_002156.5(HSPD1):c.467A>G (p.Lys156Arg)
NM_002156.5(HSPD1):c.478A>G (p.Lys160Glu) rs2086144311
NM_002156.5(HSPD1):c.491C>T (p.Thr164Ile)
NM_002156.5(HSPD1):c.498A>T (p.Glu166Asp)
NM_002156.5(HSPD1):c.518C>T (p.Thr173Met)
NM_002156.5(HSPD1):c.524C>A (p.Ser175Tyr)
NM_002156.5(HSPD1):c.526G>T (p.Ala176Ser) rs2086137164
NM_002156.5(HSPD1):c.532G>A (p.Gly178Arg) rs763177690
NM_002156.5(HSPD1):c.568A>G (p.Met190Val) rs772071575
NM_002156.5(HSPD1):c.607-3T>C
NM_002156.5(HSPD1):c.61C>G (p.His21Asp)
NM_002156.5(HSPD1):c.623A>C (p.Asn208Thr)
NM_002156.5(HSPD1):c.623A>G (p.Asn208Ser)
NM_002156.5(HSPD1):c.62A>C (p.His21Pro) rs780655407
NM_002156.5(HSPD1):c.649A>G (p.Met217Val)
NM_002156.5(HSPD1):c.655T>G (p.Phe219Val)
NM_002156.5(HSPD1):c.668A>G (p.Tyr223Cys)
NM_002156.5(HSPD1):c.697A>C (p.Lys233Gln) rs864622156
NM_002156.5(HSPD1):c.747G>T (p.Lys249Asn)
NM_002156.5(HSPD1):c.754T>G (p.Ser252Ala)
NM_002156.5(HSPD1):c.815T>C (p.Val272Ala)
NM_002156.5(HSPD1):c.881G>A (p.Gly294Asp) rs2086074548
NM_002156.5(HSPD1):c.929A>G (p.Lys310Arg)
NM_002156.5(HSPD1):c.946A>G (p.Met316Val)
NM_002156.5(HSPD1):c.95T>G (p.Phe32Cys) rs757619883
NM_002156.5(HSPD1):c.968C>G (p.Ala323Gly)
NM_004187.5(KDM5C):c.1117A>G (p.Met373Val)
NM_004187.5(KDM5C):c.126C>T (p.Gly42=)
NM_004187.5(KDM5C):c.1354G>A (p.Gly452Ser) rs2073559814
NM_004187.5(KDM5C):c.1378C>T (p.Arg460Trp)
NM_004187.5(KDM5C):c.1382A>G (p.His461Arg)
NM_004187.5(KDM5C):c.1405T>G (p.Tyr469Asp)
NM_004187.5(KDM5C):c.1514G>A (p.Gly505Asp)
NM_004187.5(KDM5C):c.1622C>T (p.Ala541Val) rs2146914547
NM_004187.5(KDM5C):c.1793C>G (p.Pro598Arg)
NM_004187.5(KDM5C):c.1823G>A (p.Gly608Asp)
NM_004187.5(KDM5C):c.1921G>A (p.Val641Ile)
NM_004187.5(KDM5C):c.1953G>A (p.Met651Ile) rs2073142756
NM_004187.5(KDM5C):c.1996G>T (p.Val666Leu)
NM_004187.5(KDM5C):c.2155C>G (p.Leu719Val) rs2073060850
NM_004187.5(KDM5C):c.2231G>A (p.Arg744Gln)
NM_004187.5(KDM5C):c.228G>A (p.Glu76=)
NM_004187.5(KDM5C):c.2315C>A (p.Thr772Asn)
NM_004187.5(KDM5C):c.2369-3C>T
NM_004187.5(KDM5C):c.242T>A (p.Val81Glu)
NM_004187.5(KDM5C):c.2460T>G (p.Ser820Arg)
NM_004187.5(KDM5C):c.2496G>T (p.Leu832=) rs139444870
NM_004187.5(KDM5C):c.2575C>A (p.Gln859Lys)
NM_004187.5(KDM5C):c.2596G>A (p.Ala866Thr)
NM_004187.5(KDM5C):c.2696G>A (p.Gly899Glu)
NM_004187.5(KDM5C):c.2806C>T (p.Arg936Cys)
NM_004187.5(KDM5C):c.2831G>A (p.Arg944Lys)
NM_004187.5(KDM5C):c.2849T>C (p.Met950Thr)
NM_004187.5(KDM5C):c.2863G>A (p.Val955Ile)
NM_004187.5(KDM5C):c.2912C>T (p.Ala971Val)
NM_004187.5(KDM5C):c.3120A>G (p.Gln1040=)
NM_004187.5(KDM5C):c.3253G>T (p.Ala1085Ser)
NM_004187.5(KDM5C):c.3344G>A (p.Arg1115His)
NM_004187.5(KDM5C):c.3380A>G (p.Lys1127Arg) rs782201107
NM_004187.5(KDM5C):c.3539C>T (p.Thr1180Met)
NM_004187.5(KDM5C):c.3554C>T (p.Thr1185Ile)
NM_004187.5(KDM5C):c.3592G>A (p.Gly1198Arg)
NM_004187.5(KDM5C):c.3677A>G (p.Asn1226Ser)
NM_004187.5(KDM5C):c.3700G>A (p.Ala1234Thr)
NM_004187.5(KDM5C):c.3716A>G (p.Asp1239Gly) rs1602161687
NM_004187.5(KDM5C):c.3948G>T (p.Gln1316His)
NM_004187.5(KDM5C):c.3961C>A (p.Pro1321Thr)
NM_004187.5(KDM5C):c.3961C>G (p.Pro1321Ala)
NM_004187.5(KDM5C):c.3961C>T (p.Pro1321Ser)
NM_004187.5(KDM5C):c.3988G>A (p.Ala1330Thr) rs1602160910
NM_004187.5(KDM5C):c.3988G>T (p.Ala1330Ser)
NM_004187.5(KDM5C):c.4019G>C (p.Ser1340Thr)
NM_004187.5(KDM5C):c.4022G>A (p.Gly1341Asp)
NM_004187.5(KDM5C):c.4022G>C (p.Gly1341Ala) rs2146819122
NM_004187.5(KDM5C):c.4045G>T (p.Gly1349Cys)
NM_004187.5(KDM5C):c.4066A>G (p.Ser1356Gly)
NM_004187.5(KDM5C):c.4072A>G (p.Thr1358Ala)
NM_004187.5(KDM5C):c.4136C>T (p.Ser1379Leu) rs2146815694
NM_004187.5(KDM5C):c.4228G>A (p.Glu1410Lys)
NM_004187.5(KDM5C):c.4312C>G (p.Leu1438Val)
NM_004187.5(KDM5C):c.4317+2T>C
NM_004187.5(KDM5C):c.4318-7A>G
NM_004187.5(KDM5C):c.4333C>T (p.Arg1445Cys)
NM_004187.5(KDM5C):c.4376G>A (p.Arg1459Gln)
NM_004187.5(KDM5C):c.4394G>A (p.Arg1465Gln) rs1184598695
NM_004187.5(KDM5C):c.4478A>G (p.Gln1493Arg)
NM_004187.5(KDM5C):c.44C>T (p.Pro15Leu)
NM_004187.5(KDM5C):c.4507G>A (p.Gly1503Arg) rs2146812137
NM_004187.5(KDM5C):c.4517G>A (p.Gly1506Asp) rs1315455348
NM_004187.5(KDM5C):c.4564A>G (p.Asn1522Asp)
NM_004187.5(KDM5C):c.4603G>A (p.Gly1535Ser)
NM_004187.5(KDM5C):c.4648C>T (p.Pro1550Ser)
NM_004187.5(KDM5C):c.61T>C (p.Trp21Arg)
NM_004187.5(KDM5C):c.626A>G (p.Tyr209Cys)
NM_004187.5(KDM5C):c.631C>T (p.Arg211Trp)
NM_004187.5(KDM5C):c.772C>T (p.Arg258Trp)
NM_004187.5(KDM5C):c.835G>C (p.Gly279Arg) rs2073727852
NM_004187.5(KDM5C):c.862C>G (p.Pro288Ala) rs2073726827
NM_004187.5(KDM5C):c.865A>C (p.Lys289Gln)
NM_004187.5(KDM5C):c.889G>C (p.Glu297Gln)
NM_004733.4(SLC33A1):c.1036G>T (p.Ala346Ser)
NM_004733.4(SLC33A1):c.1075C>A (p.Leu359Met)
NM_004733.4(SLC33A1):c.1209A>G (p.Gln403=)
NM_004733.4(SLC33A1):c.1223T>C (p.Ile408Thr)
NM_004733.4(SLC33A1):c.1268T>C (p.Val423Ala)
NM_004733.4(SLC33A1):c.1284G>A (p.Met428Ile)
NM_004733.4(SLC33A1):c.1298T>C (p.Met433Thr)
NM_004733.4(SLC33A1):c.1300G>A (p.Ala434Thr) rs1252296385
NM_004733.4(SLC33A1):c.1315G>A (p.Val439Ile)
NM_004733.4(SLC33A1):c.1396G>C (p.Val466Leu) rs769973927
NM_004733.4(SLC33A1):c.1420C>T (p.Leu474Phe)
NM_004733.4(SLC33A1):c.1433_1434del (p.Glu478fs)
NM_004733.4(SLC33A1):c.1438G>A (p.Val480Ile) rs747418232
NM_004733.4(SLC33A1):c.1511_1521del (p.Val504fs) rs772861569
NM_004733.4(SLC33A1):c.1535T>C (p.Val512Ala) rs2109302362
NM_004733.4(SLC33A1):c.154C>G (p.Leu52Val) rs756790835
NM_004733.4(SLC33A1):c.1559T>G (p.Ile520Ser) rs777143987
NM_004733.4(SLC33A1):c.1615G>T (p.Gly539Ter)
NM_004733.4(SLC33A1):c.1646A>G (p.Asn549Ser) rs1752264956
NM_004733.4(SLC33A1):c.190G>A (p.Ala64Thr) rs1332360610
NM_004733.4(SLC33A1):c.194C>G (p.Pro65Arg) rs1753513411
NM_004733.4(SLC33A1):c.213A>C (p.Glu71Asp)
NM_004733.4(SLC33A1):c.319A>G (p.Thr107Ala)
NM_004733.4(SLC33A1):c.405G>C (p.Lys135Asn)
NM_004733.4(SLC33A1):c.46C>A (p.Pro16Thr)
NM_004733.4(SLC33A1):c.491G>A (p.Arg164His) rs1394665239
NM_004733.4(SLC33A1):c.61C>G (p.His21Asp)
NM_004733.4(SLC33A1):c.710C>A (p.Ser237Tyr)
NM_004733.4(SLC33A1):c.715G>A (p.Asp239Asn)
NM_004733.4(SLC33A1):c.811A>G (p.Thr271Ala)
NM_004733.4(SLC33A1):c.848_850del (p.Glu283del) rs757509671
NM_004733.4(SLC33A1):c.928G>A (p.Val310Ile) rs2107980673
NM_004733.4(SLC33A1):c.956C>T (p.Thr319Ile)
NM_004733.4(SLC33A1):c.958G>T (p.Ala320Ser)
NM_004733.4(SLC33A1):c.98G>A (p.Gly33Asp)
NM_004820.5(CYP7B1):c.1027A>G (p.Arg343Gly)
NM_004820.5(CYP7B1):c.1037T>C (p.Leu346Ser) rs778365454
NM_004820.5(CYP7B1):c.1039G>A (p.Asp347Asn) rs2129630164
NM_004820.5(CYP7B1):c.104T>C (p.Leu35Ser) rs2129747643
NM_004820.5(CYP7B1):c.104T>G (p.Leu35Trp) rs2129747643
NM_004820.5(CYP7B1):c.105G>C (p.Leu35Phe) rs1563432681
NM_004820.5(CYP7B1):c.105G>T (p.Leu35Phe) rs1563432681
NM_004820.5(CYP7B1):c.1091C>T (p.Ser364Leu) rs770065565
NM_004820.5(CYP7B1):c.110T>A (p.Val37Asp)
NM_004820.5(CYP7B1):c.110T>C (p.Val37Ala)
NM_004820.5(CYP7B1):c.1151A>T (p.Asp384Val)
NM_004820.5(CYP7B1):c.1160T>C (p.Val387Ala)
NM_004820.5(CYP7B1):c.116G>A (p.Arg39His)
NM_004820.5(CYP7B1):c.1171G>T (p.Asp391Tyr)
NM_004820.5(CYP7B1):c.1183A>G (p.Ile395Val)
NM_004820.5(CYP7B1):c.118A>C (p.Thr40Pro)
NM_004820.5(CYP7B1):c.1190C>T (p.Pro397Leu)
NM_004820.5(CYP7B1):c.122+2dup
NM_004820.5(CYP7B1):c.1222G>A (p.Glu408Lys) rs2129629940
NM_004820.5(CYP7B1):c.123-3T>C rs2129630435
NM_004820.5(CYP7B1):c.1233+5G>A
NM_004820.5(CYP7B1):c.137C>T (p.Pro46Leu)
NM_004820.5(CYP7B1):c.1390G>A (p.Val464Ile)
NM_004820.5(CYP7B1):c.13G>C (p.Val5Leu) rs1266572347
NM_004820.5(CYP7B1):c.1438A>G (p.Ile480Val) rs1185020031
NM_004820.5(CYP7B1):c.1441G>A (p.Gly481Arg) rs1212638244
NM_004820.5(CYP7B1):c.1442G>T (p.Gly481Val)
NM_004820.5(CYP7B1):c.1456C>A (p.Arg486Ser) rs116171274
NM_004820.5(CYP7B1):c.1474C>T (p.Gln492Ter) rs2129629748
NM_004820.5(CYP7B1):c.1481C>A (p.Pro494Gln) rs1394882103
NM_004820.5(CYP7B1):c.1481C>T (p.Pro494Leu) rs1394882103
NM_004820.5(CYP7B1):c.1485T>A (p.Asp495Glu)
NM_004820.5(CYP7B1):c.167T>C (p.Leu56Pro) rs1412631149
NM_004820.5(CYP7B1):c.176T>C (p.Val59Ala) rs369433292
NM_004820.5(CYP7B1):c.191A>G (p.Lys64Arg) rs2129630430
NM_004820.5(CYP7B1):c.193G>A (p.Asp65Asn)
NM_004820.5(CYP7B1):c.197C>G (p.Pro66Arg) rs878854745
NM_004820.5(CYP7B1):c.1A>G (p.Met1Val) rs891749853
NM_004820.5(CYP7B1):c.204G>C (p.Arg68Ser) rs377119798
NM_004820.5(CYP7B1):c.204G>T (p.Arg68Ser) rs377119798
NM_004820.5(CYP7B1):c.217C>T (p.Leu73Phe)
NM_004820.5(CYP7B1):c.248T>G (p.Val83Gly)
NM_004820.5(CYP7B1):c.251T>G (p.Leu84Arg) rs952824008
NM_004820.5(CYP7B1):c.260G>T (p.Gly87Val) rs587777221
NM_004820.5(CYP7B1):c.265T>C (p.Tyr89His)
NM_004820.5(CYP7B1):c.266A>G (p.Tyr89Cys)
NM_004820.5(CYP7B1):c.26C>T (p.Thr9Met) rs779597828
NM_004820.5(CYP7B1):c.271A>G (p.Thr91Ala) rs1805446410
NM_004820.5(CYP7B1):c.337G>A (p.Val113Ile)
NM_004820.5(CYP7B1):c.344C>G (p.Ser115Cys) rs762579939
NM_004820.5(CYP7B1):c.344C>T (p.Ser115Phe)
NM_004820.5(CYP7B1):c.359A>C (p.Glu120Ala) rs2129630220
NM_004820.5(CYP7B1):c.416A>T (p.His139Leu)
NM_004820.5(CYP7B1):c.418C>T (p.Leu140Phe)
NM_004820.5(CYP7B1):c.438A>G (p.Gln146=)
NM_004820.5(CYP7B1):c.456A>G (p.Ile152Met) rs1805441459
NM_004820.5(CYP7B1):c.463G>A (p.Glu155Lys)
NM_004820.5(CYP7B1):c.473T>A (p.Met158Lys)
NM_004820.5(CYP7B1):c.500C>G (p.Pro167Arg) rs1173341823
NM_004820.5(CYP7B1):c.517A>C (p.Thr173Pro)
NM_004820.5(CYP7B1):c.521G>T (p.Ser174Ile)
NM_004820.5(CYP7B1):c.529A>G (p.Thr177Ala)
NM_004820.5(CYP7B1):c.535G>A (p.Glu179Lys)
NM_004820.5(CYP7B1):c.537A>T (p.Glu179Asp) rs2129630212
NM_004820.5(CYP7B1):c.56T>G (p.Leu19Arg) rs72554624
NM_004820.5(CYP7B1):c.575C>T (p.Thr192Ile)
NM_004820.5(CYP7B1):c.592G>C (p.Gly198Arg) rs1805436635
NM_004820.5(CYP7B1):c.59C>A (p.Pro20Gln)
NM_004820.5(CYP7B1):c.612CAA[2] (p.Asn206del) rs755178154
NM_004820.5(CYP7B1):c.614A>G (p.Asn205Ser)
NM_004820.5(CYP7B1):c.619A>G (p.Lys207Glu) rs863224730
NM_004820.5(CYP7B1):c.635T>C (p.Leu212Pro)
NM_004820.5(CYP7B1):c.650T>C (p.Leu217Ser) rs1245262159
NM_004820.5(CYP7B1):c.653A>G (p.Lys218Arg) rs2129630203
NM_004820.5(CYP7B1):c.680T>C (p.Val227Ala) rs2129630201
NM_004820.5(CYP7B1):c.704T>C (p.Leu235Pro)
NM_004820.5(CYP7B1):c.74C>A (p.Ala25Asp)
NM_004820.5(CYP7B1):c.771G>T (p.Met257Ile)
NM_004820.5(CYP7B1):c.80C>T (p.Ala27Val)
NM_004820.5(CYP7B1):c.815A>G (p.Glu272Gly) rs1585808076
NM_004820.5(CYP7B1):c.830A>C (p.His277Pro) rs145521868
NM_004820.5(CYP7B1):c.831C>A (p.His277Gln)
NM_004820.5(CYP7B1):c.835G>T (p.Asp279Tyr) rs766759427
NM_004820.5(CYP7B1):c.850+3A>G rs2129630188
NM_004820.5(CYP7B1):c.850+4del
NM_004820.5(CYP7B1):c.854A>G (p.His285Arg) rs750781606
NM_004820.5(CYP7B1):c.88C>T (p.Leu30Phe)
NM_004820.5(CYP7B1):c.8_10del (p.Gly3del) rs1460521602
NM_004820.5(CYP7B1):c.902T>C (p.Met301Thr) rs370002054
NM_004820.5(CYP7B1):c.907T>G (p.Trp303Gly) rs1430400622
NM_004820.5(CYP7B1):c.943A>G (p.Met315Val)
NM_004820.5(CYP7B1):c.970C>A (p.Arg324Ser) rs773055558
NM_004820.5(CYP7B1):c.970C>G (p.Arg324Gly) rs773055558
NM_004820.5(CYP7B1):c.98T>C (p.Leu33Pro)
NM_004984.2(KIF5A):c.2993del rs1882639725
NM_004984.4(KIF5A):c.-1_15del (p.Met1fs)
NM_004984.4(KIF5A):c.103C>A (p.Gln35Lys) rs2140150213
NM_004984.4(KIF5A):c.1042_1044del (p.Lys348del) rs2140163232
NM_004984.4(KIF5A):c.1046A>G (p.Glu349Gly)
NM_004984.4(KIF5A):c.1082C>A (p.Ala361Glu)
NM_004984.4(KIF5A):c.1082C>G (p.Ala361Gly)
NM_004984.4(KIF5A):c.1091A>G (p.Glu364Gly)
NM_004984.4(KIF5A):c.1097A>G (p.Glu366Gly) rs2140163300
NM_004984.4(KIF5A):c.1106G>A (p.Arg369Gln)
NM_004984.4(KIF5A):c.1112G>A (p.Arg371His)
NM_004984.4(KIF5A):c.1116T>C (p.Asn372=)
NM_004984.4(KIF5A):c.1116T>G (p.Asn372Lys) rs754551006
NM_004984.4(KIF5A):c.1124A>G (p.Asn375Ser)
NM_004984.4(KIF5A):c.1142G>T (p.Arg381Leu) rs755855553
NM_004984.4(KIF5A):c.1148C>T (p.Ala383Val)
NM_004984.4(KIF5A):c.1151G>A (p.Gly384Glu)
NM_004984.4(KIF5A):c.1153G>A (p.Glu385Lys) rs753854351
NM_004984.4(KIF5A):c.1156G>C (p.Glu386Gln) rs1052752751
NM_004984.4(KIF5A):c.1160C>T (p.Ala387Val) rs2140163615
NM_004984.4(KIF5A):c.1163C>A (p.Ala388Asp) rs1882197501
NM_004984.4(KIF5A):c.1171G>A (p.Ala391Thr)
NM_004984.4(KIF5A):c.1181G>A (p.Cys394Tyr)
NM_004984.4(KIF5A):c.1190C>A (p.Thr397Asn) rs2140163650
NM_004984.4(KIF5A):c.1199A>G (p.Asn400Ser)
NM_004984.4(KIF5A):c.1208C>T (p.Ser403Leu)
NM_004984.4(KIF5A):c.1213A>G (p.Ile405Val) rs1313023330
NM_004984.4(KIF5A):c.1215C>A (p.Ile405=)
NM_004984.4(KIF5A):c.1216G>A (p.Val406Met)
NM_004984.4(KIF5A):c.121G>A (p.Val41Ile) rs1881531764
NM_004984.4(KIF5A):c.1222C>A (p.Arg408Ser) rs767181570
NM_004984.4(KIF5A):c.1225A>G (p.Ile409Val)
NM_004984.4(KIF5A):c.1228G>A (p.Ala410Thr)
NM_004984.4(KIF5A):c.1252G>A (p.Glu418Lys)
NM_004984.4(KIF5A):c.1255G>A (p.Glu419Lys)
NM_004984.4(KIF5A):c.1257G>T (p.Glu419Asp) rs781663145
NM_004984.4(KIF5A):c.1261A>C (p.Ile421Leu)
NM_004984.4(KIF5A):c.126T>G (p.Ile42Met) rs149569914
NM_004984.4(KIF5A):c.1274A>G (p.Tyr425Cys)
NM_004984.4(KIF5A):c.128G>C (p.Gly43Ala)
NM_004984.4(KIF5A):c.129+6T>A
NM_004984.4(KIF5A):c.1293+16C>T
NM_004984.4(KIF5A):c.1297G>A (p.Asp433Asn)
NM_004984.4(KIF5A):c.129G>A (p.Gly43=)
NM_004984.4(KIF5A):c.1305C>G (p.Ile435Met)
NM_004984.4(KIF5A):c.1307A>C (p.Asn436Thr)
NM_004984.4(KIF5A):c.1312C>G (p.Gln438Glu) rs2140164723
NM_004984.4(KIF5A):c.1316G>C (p.Ser439Thr)
NM_004984.4(KIF5A):c.1357G>A (p.Glu453Lys)
NM_004984.4(KIF5A):c.1362+3A>C
NM_004984.4(KIF5A):c.136C>G (p.Pro46Ala)
NM_004984.4(KIF5A):c.1384G>C (p.Asp462His)
NM_004984.4(KIF5A):c.1397T>C (p.Val466Ala) rs2140165191
NM_004984.4(KIF5A):c.13A>G (p.Asn5Asp)
NM_004984.4(KIF5A):c.1409T>C (p.Leu470Pro)
NM_004984.4(KIF5A):c.1416C>G (p.His472Gln)
NM_004984.4(KIF5A):c.1422A>T (p.Gln474His) rs1373971092
NM_004984.4(KIF5A):c.1429A>G (p.Asn477Asp) rs1882274569
NM_004984.4(KIF5A):c.1435G>A (p.Ala479Thr) rs2140165233
NM_004984.4(KIF5A):c.1450G>T (p.Val484Leu)
NM_004984.4(KIF5A):c.1468G>A (p.Ala490Thr)
NM_004984.4(KIF5A):c.1486G>A (p.Val496Met) rs2140165263
NM_004984.4(KIF5A):c.151C>G (p.Arg51Gly) rs769763596
NM_004984.4(KIF5A):c.1527C>A (p.Ser509Arg)
NM_004984.4(KIF5A):c.1537C>G (p.Gln513Glu)
NM_004984.4(KIF5A):c.1540C>A (p.Leu514Ile)
NM_004984.4(KIF5A):c.1541T>A (p.Leu514His) rs2140165294
NM_004984.4(KIF5A):c.1550A>T (p.Asp517Val)
NM_004984.4(KIF5A):c.1562A>G (p.Gln521Arg)
NM_004984.4(KIF5A):c.1569+4A>G
NM_004984.4(KIF5A):c.1570-20A>G
NM_004984.4(KIF5A):c.1570-7T>C rs2140165527
NM_004984.4(KIF5A):c.157T>C (p.Phe53Leu)
NM_004984.4(KIF5A):c.1588G>C (p.Glu530Gln)
NM_004984.4(KIF5A):c.1589A>G (p.Glu530Gly)
NM_004984.4(KIF5A):c.158T>C (p.Phe53Ser) rs1555177348
NM_004984.4(KIF5A):c.1601A>G (p.Gln534Arg)
NM_004984.4(KIF5A):c.1618A>G (p.Ser540Gly) rs1882291000
NM_004984.4(KIF5A):c.1637G>T (p.Arg546Leu)
NM_004984.4(KIF5A):c.163C>G (p.Pro55Ala)
NM_004984.4(KIF5A):c.1648G>A (p.Val550Met) rs2140165608
NM_004984.4(KIF5A):c.164C>G (p.Pro55Arg)
NM_004984.4(KIF5A):c.1656C>G (p.Asn552Lys) rs776685173
NM_004984.4(KIF5A):c.166A>C (p.Asn56His) rs1162282839
NM_004984.4(KIF5A):c.1671T>A (p.Asp557Glu) rs1594919820
NM_004984.4(KIF5A):c.1685G>A (p.Ser562Asn) rs2140165648
NM_004984.4(KIF5A):c.1705G>A (p.Glu569Lys)
NM_004984.4(KIF5A):c.1716+10G>A
NM_004984.4(KIF5A):c.1717-10A>G
NM_004984.4(KIF5A):c.1729A>G (p.Ser577Gly)
NM_004984.4(KIF5A):c.1741GAG[2] (p.Glu583del)
NM_004984.4(KIF5A):c.1741GAG[4] (p.Glu583dup) rs1882381684
NM_004984.4(KIF5A):c.1759G>A (p.Ala587Thr)
NM_004984.4(KIF5A):c.1771A>G (p.Ile591Val)
NM_004984.4(KIF5A):c.1796A>C (p.Lys599Thr)
NM_004984.4(KIF5A):c.1811G>A (p.Arg604Gln) rs931757596
NM_004984.4(KIF5A):c.1816C>T (p.Arg606Trp)
NM_004984.4(KIF5A):c.1829A>G (p.Asn610Ser) rs978303061
NM_004984.4(KIF5A):c.1829A>T (p.Asn610Ile) rs978303061
NM_004984.4(KIF5A):c.1849C>G (p.Arg617Gly)
NM_004984.4(KIF5A):c.184G>C (p.Val62Leu) rs2140158758
NM_004984.4(KIF5A):c.1894C>T (p.Leu632Phe)
NM_004984.4(KIF5A):c.1897A>G (p.Ile633Val)
NM_004984.4(KIF5A):c.1905+5G>A
NM_004984.4(KIF5A):c.1906-15A>G
NM_004984.4(KIF5A):c.1909G>A (p.Glu637Lys)
NM_004984.4(KIF5A):c.1921C>T (p.Arg641Cys)
NM_004984.4(KIF5A):c.1955T>C (p.Leu652Pro)
NM_004984.4(KIF5A):c.1958A>G (p.Lys653Arg)
NM_004984.4(KIF5A):c.1982A>G (p.Tyr661Cys)
NM_004984.4(KIF5A):c.1994G>A (p.Ser665Asn)
NM_004984.4(KIF5A):c.199G>C (p.Ala67Pro)
NM_004984.4(KIF5A):c.2010G>C (p.Lys670Asn)
NM_004984.4(KIF5A):c.2039T>C (p.Val680Ala)
NM_004984.4(KIF5A):c.203T>C (p.Met68Thr)
NM_004984.4(KIF5A):c.203T>G (p.Met68Arg)
NM_004984.4(KIF5A):c.2083G>A (p.Val695Met)
NM_004984.4(KIF5A):c.2088+3G>A
NM_004984.4(KIF5A):c.2114G>T (p.Ser705Ile)
NM_004984.4(KIF5A):c.2139G>C (p.Gln713His) rs2140168258
NM_004984.4(KIF5A):c.2153G>A (p.Arg718Gln)
NM_004984.4(KIF5A):c.2155G>T (p.Asp719Tyr)
NM_004984.4(KIF5A):c.2158G>A (p.Glu720Lys)
NM_004984.4(KIF5A):c.2159A>T (p.Glu720Val) rs2140168286
NM_004984.4(KIF5A):c.215A>G (p.Lys72Arg)
NM_004984.4(KIF5A):c.2162T>G (p.Ile721Ser) rs879254299
NM_004984.4(KIF5A):c.217+6A>C
NM_004984.4(KIF5A):c.2175G>C (p.Gln725His)
NM_004984.4(KIF5A):c.2180C>A (p.Thr727Asn)
NM_004984.4(KIF5A):c.2180C>T (p.Thr727Ile)
NM_004984.4(KIF5A):c.2198+4A>G
NM_004984.4(KIF5A):c.2198+6G>C
NM_004984.4(KIF5A):c.2216A>G (p.Gln739Arg) rs2140168633
NM_004984.4(KIF5A):c.2227G>A (p.Glu743Lys) rs1369177203
NM_004984.4(KIF5A):c.2240C>G (p.Ala747Gly) rs749023785
NM_004984.4(KIF5A):c.2261G>T (p.Ser754Ile) rs1882441483
NM_004984.4(KIF5A):c.2262C>G (p.Ser754Arg) rs143260492
NM_004984.4(KIF5A):c.2275A>C (p.Lys759Gln)
NM_004984.4(KIF5A):c.2278A>G (p.Ser760Gly)
NM_004984.4(KIF5A):c.22T>C (p.Cys8Arg)
NM_004984.4(KIF5A):c.2300C>G (p.Thr767Arg) rs765493045
NM_004984.4(KIF5A):c.2300C>T (p.Thr767Ile)
NM_004984.4(KIF5A):c.230G>A (p.Gly77Asp) rs1060502525
NM_004984.4(KIF5A):c.2315G>A (p.Arg772Gln) rs537001094
NM_004984.4(KIF5A):c.2327C>T (p.Ser776Phe)
NM_004984.4(KIF5A):c.2333A>G (p.Gln778Arg) rs2140169276
NM_004984.4(KIF5A):c.2358A>G (p.Thr786=)
NM_004984.4(KIF5A):c.2360T>C (p.Val787Ala) rs2140169303
NM_004984.4(KIF5A):c.2361+6T>C
NM_004984.4(KIF5A):c.2383C>T (p.His795Tyr)
NM_004984.4(KIF5A):c.2390T>C (p.Leu797Pro)
NM_004984.4(KIF5A):c.2393G>A (p.Arg798His) rs940071825
NM_004984.4(KIF5A):c.2434A>G (p.Ser812Gly)
NM_004984.4(KIF5A):c.2436T>G (p.Ser812Arg)
NM_004984.4(KIF5A):c.244A>G (p.Ile82Val)
NM_004984.4(KIF5A):c.2480A>G (p.Lys827Arg) rs1882491979
NM_004984.4(KIF5A):c.2483AGA[1] (p.Lys829del)
NM_004984.4(KIF5A):c.2492C>T (p.Ser831Phe) rs193920755
NM_004984.4(KIF5A):c.2538+5G>C rs2140169708
NM_004984.4(KIF5A):c.2539-14G>A
NM_004984.4(KIF5A):c.2539C>A (p.Leu847Met)
NM_004984.4(KIF5A):c.2545C>T (p.Arg849Cys) rs2140171409
NM_004984.4(KIF5A):c.2578A>C (p.Lys860Gln)
NM_004984.4(KIF5A):c.260A>G (p.Gln87Arg)
NM_004984.4(KIF5A):c.2618A>C (p.Lys873Thr)
NM_004984.4(KIF5A):c.2621C>G (p.Ala874Gly)
NM_004984.4(KIF5A):c.2629G>A (p.Gly877Ser)
NM_004984.4(KIF5A):c.2653G>A (p.Gly885Ser)
NM_004984.4(KIF5A):c.2656G>T (p.Ala886Ser) rs1017745641
NM_004984.4(KIF5A):c.2659_2674del (p.Met887fs) rs2140171473
NM_004984.4(KIF5A):c.2664G>T (p.Lys888Asn)
NM_004984.4(KIF5A):c.266C>A (p.Ser89Tyr) rs2140158856
NM_004984.4(KIF5A):c.2672G>T (p.Arg891Leu)
NM_004984.4(KIF5A):c.2674C>T (p.Arg892Trp) rs267603612
NM_004984.4(KIF5A):c.2695C>A (p.Arg899Ser)
NM_004984.4(KIF5A):c.2695C>T (p.Arg899Cys)
NM_004984.4(KIF5A):c.2696G>A (p.Arg899His)
NM_004984.4(KIF5A):c.269C>T (p.Ser90Leu) rs1060502524
NM_004984.4(KIF5A):c.2719A>G (p.Lys907Glu)
NM_004984.4(KIF5A):c.2722A>C (p.Ser908Arg) rs2140171539
NM_004984.4(KIF5A):c.2723G>C (p.Ser908Thr) rs748632605
NM_004984.4(KIF5A):c.2726C>T (p.Ser909Leu) rs267603613
NM_004984.4(KIF5A):c.272G>A (p.Gly91Glu)
NM_004984.4(KIF5A):c.2732A>C (p.Lys911Thr)
NM_004984.4(KIF5A):c.2732A>G (p.Lys911Arg) rs199953180
NM_004984.4(KIF5A):c.2735G>C (p.Arg912Pro)
NM_004984.4(KIF5A):c.2738G>T (p.Gly913Val)
NM_004984.4(KIF5A):c.2741A>G (p.His914Arg) rs1882585121
NM_004984.4(KIF5A):c.2755+3G>C rs1416076720
NM_004984.4(KIF5A):c.2755+4A>C
NM_004984.4(KIF5A):c.275A>C (p.Lys92Thr) rs2140158867
NM_004984.4(KIF5A):c.2764G>A (p.Val922Ile) rs763041798
NM_004984.4(KIF5A):c.2771C>T (p.Pro924Leu)
NM_004984.4(KIF5A):c.2778C>A (p.His926Gln)
NM_004984.4(KIF5A):c.2788T>C (p.Ser930Pro)
NM_004984.4(KIF5A):c.2800A>G (p.Asn934Asp)
NM_004984.4(KIF5A):c.2804C>T (p.Pro935Leu) rs1272664645
NM_004984.4(KIF5A):c.2807A>G (p.Tyr936Cys)
NM_004984.4(KIF5A):c.280C>T (p.His94Tyr)
NM_004984.4(KIF5A):c.2810G>A (p.Gly937Asp)
NM_004984.4(KIF5A):c.2826del (p.Glu942fs) rs1594926154
NM_004984.4(KIF5A):c.2833A>G (p.Ser945Gly)
NM_004984.4(KIF5A):c.2837A>G (p.Tyr946Cys)
NM_004984.4(KIF5A):c.2840C>G (p.Thr947Ser)
NM_004984.4(KIF5A):c.2843A>G (p.Asn948Ser)
NM_004984.4(KIF5A):c.2869C>T (p.Leu957Phe) rs1882602063
NM_004984.4(KIF5A):c.28A>G (p.Ile10Val) rs2140150109
NM_004984.4(KIF5A):c.2902G>C (p.Asp968His) rs764332673
NM_004984.4(KIF5A):c.2909+4A>G rs2140171881
NM_004984.4(KIF5A):c.2909A>G (p.Tyr970Cys) rs1484472471
NM_004984.4(KIF5A):c.291+6G>C
NM_004984.4(KIF5A):c.2910-3C>G
NM_004984.4(KIF5A):c.2910-4_2910-3delinsTT rs2140172085
NM_004984.4(KIF5A):c.2922C>T (p.Ser974=)
NM_004984.4(KIF5A):c.2923T>G (p.Cys975Gly)
NM_004984.4(KIF5A):c.2930G>A (p.Ser977Asn)
NM_004984.4(KIF5A):c.2934T>G (p.Ser978Arg)
NM_004984.4(KIF5A):c.2936G>A (p.Gly979Glu)
NM_004984.4(KIF5A):c.2936G>C (p.Gly979Ala) rs1156869738
NM_004984.4(KIF5A):c.2945C>T (p.Ser982Phe) rs1211468940
NM_004984.4(KIF5A):c.2953G>T (p.Gly985Cys) rs371548640
NM_004984.4(KIF5A):c.2956C>A (p.Pro986Thr)
NM_004984.4(KIF5A):c.2957C>G (p.Pro986Arg) rs113247976
NM_004984.4(KIF5A):c.297G>T (p.Lys99Asn)
NM_004984.4(KIF5A):c.2993-16A>G rs1172104617
NM_004984.4(KIF5A):c.2994_2996del (p.Asn999del)
NM_004984.4(KIF5A):c.2996del (p.Asn999fs) rs2140172678
NM_004984.4(KIF5A):c.3002C>T (p.Thr1001Ile) rs2140172682
NM_004984.4(KIF5A):c.3002del (p.Thr1001fs)
NM_004984.4(KIF5A):c.3005A>G (p.Asp1002Gly) rs1882640177
NM_004984.4(KIF5A):c.3017A>G (p.Asn1006Ser) rs2140172688
NM_004984.4(KIF5A):c.3020+3A>G
NM_004984.4(KIF5A):c.3020G>T (p.Arg1007Met)
NM_004984.4(KIF5A):c.3027C>G (p.Asp1009Glu)
NM_004984.4(KIF5A):c.3031C>A (p.Pro1011Thr)
NM_004984.4(KIF5A):c.3036T>G (p.Cys1012Trp)
NM_004984.4(KIF5A):c.3041A>G (p.Tyr1014Cys)
NM_004984.4(KIF5A):c.304G>A (p.Asp102Asn)
NM_004984.4(KIF5A):c.3055C>G (p.Gln1019Glu) rs2140173025
NM_004984.4(KIF5A):c.3074T>C (p.Leu1025Pro)
NM_004984.4(KIF5A):c.3082G>A (p.Glu1028Lys) rs1882658654
NM_004984.4(KIF5A):c.3086C>T (p.Thr1029Ile)
NM_004984.4(KIF5A):c.3089C>A (p.Ala1030Glu) rs1206507768
NM_004984.4(KIF5A):c.3091G>C (p.Ala1031Pro) rs749631031
NM_004984.4(KIF5A):c.327T>G (p.Ile109Met) rs777103564
NM_004984.4(KIF5A):c.334A>G (p.Ile112Val)
NM_004984.4(KIF5A):c.343G>A (p.Asp115Asn)
NM_004984.4(KIF5A):c.37C>G (p.Leu13Val)
NM_004984.4(KIF5A):c.382G>A (p.Glu128Lys) rs2140159178
NM_004984.4(KIF5A):c.396+5C>T
NM_004984.4(KIF5A):c.3G>A (p.Met1Ile)
NM_004984.4(KIF5A):c.414T>G (p.Ile138Met)
NM_004984.4(KIF5A):c.41G>A (p.Cys14Tyr)
NM_004984.4(KIF5A):c.427A>C (p.Ile143Leu)
NM_004984.4(KIF5A):c.428T>C (p.Ile143Thr) rs2140159373
NM_004984.4(KIF5A):c.431G>A (p.Arg144His)
NM_004984.4(KIF5A):c.433G>C (p.Asp145His) rs1060502522
NM_004984.4(KIF5A):c.472G>A (p.Glu158Lys)
NM_004984.4(KIF5A):c.474G>T (p.Glu158Asp)
NM_004984.4(KIF5A):c.475G>T (p.Asp159Tyr)
NM_004984.4(KIF5A):c.485G>A (p.Arg162Gln)
NM_004984.4(KIF5A):c.4_5delinsAA (p.Ala2Lys) rs2140150082
NM_004984.4(KIF5A):c.500A>C (p.Lys167Thr) rs2140159698
NM_004984.4(KIF5A):c.501+6A>C rs2140159703
NM_004984.4(KIF5A):c.502-9C>A rs755065220
NM_004984.4(KIF5A):c.502G>A (p.Gly168Ser) rs2140161194
NM_004984.4(KIF5A):c.503G>A (p.Gly168Asp)
NM_004984.4(KIF5A):c.506G>A (p.Cys169Tyr)
NM_004984.4(KIF5A):c.514C>T (p.Arg172Cys) rs1159429693
NM_004984.4(KIF5A):c.530C>G (p.Pro177Arg) rs1319232269
NM_004984.4(KIF5A):c.544G>T (p.Asp182Tyr)
NM_004984.4(KIF5A):c.551T>C (p.Ile184Thr) rs1882089233
NM_004984.4(KIF5A):c.565T>G (p.Ser189Ala) rs2140161267
NM_004984.4(KIF5A):c.571C>T (p.Arg191Cys)
NM_004984.4(KIF5A):c.577G>A (p.Val193Met)
NM_004984.4(KIF5A):c.580G>A (p.Ala194Thr)
NM_004984.4(KIF5A):c.583G>A (p.Val195Ile)
NM_004984.4(KIF5A):c.586A>G (p.Thr196Ala) rs1565697675
NM_004984.4(KIF5A):c.589+9G>C
NM_004984.4(KIF5A):c.590-3C>T rs1882102799
NM_004984.4(KIF5A):c.593T>C (p.Met198Thr)
NM_004984.4(KIF5A):c.597T>G (p.Asn199Lys) rs11172251
NM_004984.4(KIF5A):c.621C>A (p.Ser207Arg)
NM_004984.4(KIF5A):c.627C>G (p.Phe209Leu)
NM_004984.4(KIF5A):c.673A>T (p.Ser225Cys) rs911601615
NM_004984.4(KIF5A):c.691G>T (p.Val231Leu) rs2140161619
NM_004984.4(KIF5A):c.698T>C (p.Leu233Pro) rs1594915468
NM_004984.4(KIF5A):c.705G>T (p.Gly235=)
NM_004984.4(KIF5A):c.714+6G>C rs1882106517
NM_004984.4(KIF5A):c.719G>T (p.Ser240Ile) rs2140162534
NM_004984.4(KIF5A):c.730G>C (p.Ala244Pro) rs1594916621
NM_004984.4(KIF5A):c.730_731delinsAA (p.Ala244Lys) rs2140162546
NM_004984.4(KIF5A):c.73C>G (p.Leu25Val)
NM_004984.4(KIF5A):c.742G>A (p.Val248Met)
NM_004984.4(KIF5A):c.742G>T (p.Val248Leu)
NM_004984.4(KIF5A):c.754G>C (p.Ala252Pro)
NM_004984.4(KIF5A):c.763A>G (p.Ile255Val) rs2140162576
NM_004984.4(KIF5A):c.765CAA[1] (p.Asn256del) rs1565698514
NM_004984.4(KIF5A):c.772T>C (p.Ser258Pro) rs1882158696
NM_004984.4(KIF5A):c.782C>T (p.Ala261Val) rs2140162600
NM_004984.4(KIF5A):c.788G>A (p.Gly263Asp) rs2140162605
NM_004984.4(KIF5A):c.79G>A (p.Gly27Arg)
NM_004984.4(KIF5A):c.802G>T (p.Ala268Ser) rs139015012
NM_004984.4(KIF5A):c.808G>T (p.Ala270Ser) rs2140162633
NM_004984.4(KIF5A):c.809C>G (p.Ala270Gly)
NM_004984.4(KIF5A):c.813G>A (p.Glu271=) rs772172027
NM_004984.4(KIF5A):c.820-3C>T
NM_004984.4(KIF5A):c.824G>A (p.Ser275Asn) rs2140162832
NM_004984.4(KIF5A):c.826T>C (p.Tyr276His) rs2140162837
NM_004984.4(KIF5A):c.857G>C (p.Arg286Thr) rs1224640834
NM_004984.4(KIF5A):c.86A>T (p.Lys29Met) rs2140150198
NM_004984.4(KIF5A):c.872C>T (p.Ser291Phe) rs761812789
NM_004984.4(KIF5A):c.877G>A (p.Gly293Arg)
NM_004984.4(KIF5A):c.889C>T (p.Arg297Trp) rs1416085161
NM_004984.4(KIF5A):c.890G>A (p.Arg297Gln) rs1404057685
NM_004984.4(KIF5A):c.890G>T (p.Arg297Leu)
NM_004984.4(KIF5A):c.892A>G (p.Thr298Ala)
NM_004984.4(KIF5A):c.893C>T (p.Thr298Met) rs1303126235
NM_004984.4(KIF5A):c.899T>A (p.Met300Lys) rs1290797018
NM_004984.4(KIF5A):c.922A>G (p.Ser308Gly)
NM_004984.4(KIF5A):c.92T>C (p.Ile31Thr)
NM_004984.4(KIF5A):c.933T>A (p.Asp311Glu)
NM_004984.4(KIF5A):c.934G>T (p.Ala312Ser)
NM_004984.4(KIF5A):c.935C>T (p.Ala312Val) rs2140162971
NM_004984.4(KIF5A):c.941C>A (p.Thr314Asn)
NM_004984.4(KIF5A):c.965A>G (p.Gln322Arg)
NM_004984.4(KIF5A):c.967C>A (p.Arg323=)
NM_004984.4(KIF5A):c.968G>A (p.Arg323Gln) rs2140163000
NM_004984.4(KIF5A):c.970G>A (p.Ala324Thr) rs1882179319
NM_004984.4(KIF5A):c.977C>G (p.Thr326Ser)
NM_004984.4(KIF5A):c.97A>G (p.Ile33Val)
NM_004984.4(KIF5A):c.997G>A (p.Val333Ile)
NM_005619.5(RTN2):c.1018G>T (p.Asp340Tyr)
NM_005619.5(RTN2):c.1033+4G>A
NM_005619.5(RTN2):c.1053G>T (p.Trp351Cys)
NM_005619.5(RTN2):c.1067C>T (p.Thr356Met)
NM_005619.5(RTN2):c.1141G>A (p.Ala381Thr)
NM_005619.5(RTN2):c.1142C>T (p.Ala381Val)
NM_005619.5(RTN2):c.1213C>T (p.His405Tyr)
NM_005619.5(RTN2):c.1216C>T (p.Arg406Trp) rs977755323
NM_005619.5(RTN2):c.1220G>A (p.Gly407Glu)
NM_005619.5(RTN2):c.1254T>A (p.Asp418Glu)
NM_005619.5(RTN2):c.1259A>G (p.Asp420Gly) rs1968091401
NM_005619.5(RTN2):c.1283C>A (p.Thr428Lys) rs74368484
NM_005619.5(RTN2):c.1283C>T (p.Thr428Met)
NM_005619.5(RTN2):c.1288C>T (p.Arg430Cys)
NM_005619.5(RTN2):c.1313G>A (p.Arg438His)
NM_005619.5(RTN2):c.134A>T (p.Glu45Val)
NM_005619.5(RTN2):c.1375C>T (p.Leu459Phe) rs1555797475
NM_005619.5(RTN2):c.1399A>T (p.Ile467Phe) rs1420083691
NM_005619.5(RTN2):c.142GAG[2] (p.Glu50del) rs767238040
NM_005619.5(RTN2):c.1486C>T (p.Arg496Trp)
NM_005619.5(RTN2):c.1487G>T (p.Arg496Leu) rs752465413
NM_005619.5(RTN2):c.1557G>A (p.Lys519=) rs1968007903
NM_005619.5(RTN2):c.1560C>G (p.Ile520Met)
NM_005619.5(RTN2):c.1621AAAGCC[1] (p.541KA[1])
NM_005619.5(RTN2):c.1624G>T (p.Ala542Ser)
NM_005619.5(RTN2):c.232C>T (p.Arg78Cys) rs2122228490
NM_005619.5(RTN2):c.257C>T (p.Pro86Leu) rs758002007
NM_005619.5(RTN2):c.272G>A (p.Arg91His)
NM_005619.5(RTN2):c.337C>T (p.Pro113Ser)
NM_005619.5(RTN2):c.392C>T (p.Pro131Leu)
NM_005619.5(RTN2):c.407C>T (p.Pro136Leu)
NM_005619.5(RTN2):c.440T>C (p.Leu147Pro) rs1968232374
NM_005619.5(RTN2):c.446G>T (p.Trp149Leu) rs750521507
NM_005619.5(RTN2):c.455G>C (p.Arg152Pro)
NM_005619.5(RTN2):c.482C>A (p.Ser161Tyr) rs770628974
NM_005619.5(RTN2):c.526C>T (p.Pro176Ser) rs772248018
NM_005619.5(RTN2):c.554G>A (p.Gly185Glu)
NM_005619.5(RTN2):c.580C>T (p.Leu194Phe)
NM_005619.5(RTN2):c.671C>T (p.Ser224Leu)
NM_005619.5(RTN2):c.713A>G (p.Glu238Gly) rs1968222442
NM_005619.5(RTN2):c.745G>A (p.Glu249Lys) rs761286207
NM_005619.5(RTN2):c.745G>C (p.Glu249Gln) rs761286207
NM_005619.5(RTN2):c.754A>T (p.Arg252Trp)
NM_005619.5(RTN2):c.797T>G (p.Val266Gly)
NM_005619.5(RTN2):c.815G>A (p.Gly272Glu)
NM_005619.5(RTN2):c.859T>A (p.Tyr287Asn)
NM_005619.5(RTN2):c.916G>C (p.Val306Leu) rs181791404
NM_005619.5(RTN2):c.928C>T (p.Pro310Ser)
NM_005619.5(RTN2):c.959T>C (p.Leu320Pro)
NM_006517.5(SLC16A2):c.1084T>C (p.Cys362Arg) rs1555989837
NM_006517.5(SLC16A2):c.1088T>C (p.Ile363Thr)
NM_006517.5(SLC16A2):c.1106T>C (p.Leu369Pro)
NM_006517.5(SLC16A2):c.1108G>C (p.Gly370Arg)
NM_006517.5(SLC16A2):c.1109G>A (p.Gly370Glu)
NM_006517.5(SLC16A2):c.1132A>C (p.Ser378Arg) rs2147871016
NM_006517.5(SLC16A2):c.1145C>T (p.Pro382Leu) rs1930480393
NM_006517.5(SLC16A2):c.120G>T (p.Glu40Asp)
NM_006517.5(SLC16A2):c.1231G>A (p.Gly411Arg) rs147814121
NM_006517.5(SLC16A2):c.1234G>C (p.Gly412Arg)
NM_006517.5(SLC16A2):c.1238T>G (p.Leu413Arg) rs1569300461
NM_006517.5(SLC16A2):c.1244T>A (p.Val415Asp) rs1569300465
NM_006517.5(SLC16A2):c.1274G>T (p.Gly425Val) rs1449997865
NM_006517.5(SLC16A2):c.127C>G (p.Pro43Ala)
NM_006517.5(SLC16A2):c.1293G>A (p.Met431Ile)
NM_006517.5(SLC16A2):c.1300A>T (p.Ile434Phe)
NM_006517.5(SLC16A2):c.1375A>T (p.Met459Leu)
NM_006517.5(SLC16A2):c.1377G>T (p.Met459Ile)
NM_006517.5(SLC16A2):c.1380del (p.Ile460fs) rs1930533677
NM_006517.5(SLC16A2):c.1394T>C (p.Ile465Thr)
NM_006517.5(SLC16A2):c.1481T>G (p.Leu494Arg) rs104894938
NM_006517.5(SLC16A2):c.1486T>C (p.Phe496Leu)
NM_006517.5(SLC16A2):c.1505A>G (p.Gln502Arg)
NM_006517.5(SLC16A2):c.1512G>C (p.Met504Ile) rs1289700497
NM_006517.5(SLC16A2):c.151C>T (p.Pro51Ser)
NM_006517.5(SLC16A2):c.1550T>C (p.Met517Thr)
NM_006517.5(SLC16A2):c.163C>A (p.Pro55Thr)
NM_006517.5(SLC16A2):c.197A>G (p.Glu66Gly)
NM_006517.5(SLC16A2):c.224A>G (p.His75Arg) rs2147833992
NM_006517.5(SLC16A2):c.24C>G (p.Ser8Arg)
NM_006517.5(SLC16A2):c.251A>G (p.Glu84Gly)
NM_006517.5(SLC16A2):c.269_270delinsAA (p.Arg90Gln)
NM_006517.5(SLC16A2):c.401A>G (p.Glu134Gly)
NM_006517.5(SLC16A2):c.430+5G>T rs1569281220
NM_006517.5(SLC16A2):c.492C>A (p.Phe164Leu) rs1555989369
NM_006517.5(SLC16A2):c.500G>A (p.Arg167His)
NM_006517.5(SLC16A2):c.506G>T (p.Gly169Val)
NM_006517.5(SLC16A2):c.532G>T (p.Ala178Ser)
NM_006517.5(SLC16A2):c.551G>A (p.Gly184Asp)
NM_006517.5(SLC16A2):c.558T>A (p.His186Gln) rs1930399390
NM_006517.5(SLC16A2):c.59A>G (p.Gln20Arg)
NM_006517.5(SLC16A2):c.617G>A (p.Gly206Asp) rs1930456883
NM_006517.5(SLC16A2):c.626G>A (p.Cys209Tyr)
NM_006517.5(SLC16A2):c.652G>A (p.Val218Ile)
NM_006517.5(SLC16A2):c.679C>T (p.Arg227Cys)
NM_006517.5(SLC16A2):c.731T>A (p.Met244Lys) rs2147870573
NM_006517.5(SLC16A2):c.826C>T (p.Leu276Phe)
NM_006517.5(SLC16A2):c.856A>G (p.Ser286Gly)
NM_006517.5(SLC16A2):c.856A>T (p.Ser286Cys)
NM_006517.5(SLC16A2):c.890G>C (p.Arg297Pro) rs780086745
NM_006517.5(SLC16A2):c.892A>G (p.Thr298Ala)
NM_006517.5(SLC16A2):c.904C>T (p.Arg302Cys)
NM_006517.5(SLC16A2):c.914C>T (p.Ala305Val) rs1602142117
NM_006517.5(SLC16A2):c.925A>G (p.Lys309Glu) rs2147870660
NM_006517.5(SLC16A2):c.944T>C (p.Val315Ala)
NM_006517.5(SLC16A2):c.955C>T (p.Arg319Cys)
NM_006517.5(SLC16A2):c.956G>A (p.Arg319His)
NM_006517.5(SLC16A2):c.96_97insCCTGAGCCGGAG (p.Glu32_Ser33insProGluProGlu)
NM_006517.5(SLC16A2):c.97_108del (p.Ser33_Glu36del) rs753170095
NM_006517.5(SLC16A2):c.97_108dup (p.Glu36_Pro37insSerGluProGlu)
NM_007175.8(ERLIN2):c.1002_1007del (p.Ala335_Thr336del) rs797045563
NM_007175.8(ERLIN2):c.1004C>A (p.Ala335Asp) rs1563318442
NM_007175.8(ERLIN2):c.1017T>G (p.Asn339Lys)
NM_007175.8(ERLIN2):c.106A>G (p.Arg36Gly)
NM_007175.8(ERLIN2):c.136G>A (p.Gly46Ser)
NM_007175.8(ERLIN2):c.148C>T (p.His50Tyr) rs143647454
NM_007175.8(ERLIN2):c.154A>C (p.Met52Leu)
NM_007175.8(ERLIN2):c.205G>C (p.Asp69His) rs1802859943
NM_007175.8(ERLIN2):c.207_209del (p.Asp69del)
NM_007175.8(ERLIN2):c.237-3T>C
NM_007175.8(ERLIN2):c.246G>A (p.Val82=)
NM_007175.8(ERLIN2):c.246GAT[1] (p.Met83del) rs1802960804
NM_007175.8(ERLIN2):c.249G>T (p.Met83Ile)
NM_007175.8(ERLIN2):c.250A>G (p.Ile84Val)
NM_007175.8(ERLIN2):c.254A>T (p.Tyr85Phe)
NM_007175.8(ERLIN2):c.277A>G (p.Asn93Asp) rs1554516498
NM_007175.8(ERLIN2):c.334G>A (p.Asp112Asn)
NM_007175.8(ERLIN2):c.362A>C (p.His121Pro)
NM_007175.8(ERLIN2):c.385A>G (p.Ser129Gly) rs1802975180
NM_007175.8(ERLIN2):c.406G>A (p.Val136Ile) rs1338086200
NM_007175.8(ERLIN2):c.406G>C (p.Val136Leu)
NM_007175.8(ERLIN2):c.413T>C (p.Ile138Thr)
NM_007175.8(ERLIN2):c.452C>T (p.Ala151Val) rs1554517327
NM_007175.8(ERLIN2):c.461A>C (p.Gln154Pro) rs1803168761
NM_007175.8(ERLIN2):c.473C>T (p.Ser158Phe)
NM_007175.8(ERLIN2):c.502G>A (p.Val168Met) rs1803173923
NM_007175.8(ERLIN2):c.520A>G (p.Asn174Asp) rs1258969957
NM_007175.8(ERLIN2):c.577C>T (p.Leu193Phe)
NM_007175.8(ERLIN2):c.622G>C (p.Glu208Gln)
NM_007175.8(ERLIN2):c.707A>G (p.Lys236Arg)
NM_007175.8(ERLIN2):c.737A>C (p.Glu246Ala)
NM_007175.8(ERLIN2):c.758G>A (p.Arg253Gln)
NM_007175.8(ERLIN2):c.77T>C (p.Ile26Thr)
NM_007175.8(ERLIN2):c.805G>T (p.Ala269Ser)
NM_007175.8(ERLIN2):c.836A>C (p.Glu279Ala)
NM_007175.8(ERLIN2):c.879C>T (p.Ser293=)
NM_007175.8(ERLIN2):c.899A>G (p.Asp300Gly)
NM_007175.8(ERLIN2):c.918G>A (p.Met306Ile)
NM_007175.8(ERLIN2):c.94G>T (p.Gly32Trp) rs1554515558
NM_007175.8(ERLIN2):c.992C>T (p.Pro331Leu)
NM_007347.5(AP4E1):c.1021A>G (p.Ile341Val) rs1311207258
NM_007347.5(AP4E1):c.1039T>C (p.Ser347Pro)
NM_007347.5(AP4E1):c.1042C>T (p.Pro348Ser) rs779139742
NM_007347.5(AP4E1):c.1072A>G (p.Lys358Glu)
NM_007347.5(AP4E1):c.1081A>G (p.Thr361Ala)
NM_007347.5(AP4E1):c.1124A>C (p.Gln375Pro)
NM_007347.5(AP4E1):c.1172G>A (p.Arg391Lys) rs1195052914
NM_007347.5(AP4E1):c.1178C>T (p.Thr393Ile) rs201339574
NM_007347.5(AP4E1):c.1218A>G (p.Ile406Met) rs2140857840
NM_007347.5(AP4E1):c.121C>A (p.Arg41Ser)
NM_007347.5(AP4E1):c.1220C>T (p.Thr407Ile) rs2064087079
NM_007347.5(AP4E1):c.1225A>G (p.Ile409Val)
NM_007347.5(AP4E1):c.1239G>A (p.Met413Ile)
NM_007347.5(AP4E1):c.1269G>T (p.Glu423Asp) rs145477211
NM_007347.5(AP4E1):c.1271A>G (p.Tyr424Cys)
NM_007347.5(AP4E1):c.1287G>C (p.Leu429Phe) rs2140858085
NM_007347.5(AP4E1):c.1301C>T (p.Ala434Val) rs1567229219
NM_007347.5(AP4E1):c.1328A>G (p.Asp443Gly)
NM_007347.5(AP4E1):c.1368A>C (p.Ser456=)
NM_007347.5(AP4E1):c.136C>G (p.Leu46Val)
NM_007347.5(AP4E1):c.1379A>G (p.Asp460Gly)
NM_007347.5(AP4E1):c.1478A>T (p.Gln493Leu) rs1060503026
NM_007347.5(AP4E1):c.148C>A (p.His50Asn)
NM_007347.5(AP4E1):c.1514T>G (p.Phe505Cys) rs2064128364
NM_007347.5(AP4E1):c.1540A>C (p.Met514Leu) rs2140862724
NM_007347.5(AP4E1):c.1564T>C (p.Ser522Pro)
NM_007347.5(AP4E1):c.1624A>T (p.Met542Leu)
NM_007347.5(AP4E1):c.1694C>T (p.Ala565Val) rs142762839
NM_007347.5(AP4E1):c.1709C>T (p.Thr570Ile) rs1235679423
NM_007347.5(AP4E1):c.1769C>T (p.Ala590Val) rs2140878326
NM_007347.5(AP4E1):c.1840G>A (p.Glu614Lys) rs2064269714
NM_007347.5(AP4E1):c.1851+2_1851+5dup rs778162120
NM_007347.5(AP4E1):c.1853T>G (p.Val618Gly)
NM_007347.5(AP4E1):c.1902T>A (p.Ser634Arg) rs2064423182
NM_007347.5(AP4E1):c.1912G>A (p.Ala638Thr)
NM_007347.5(AP4E1):c.1984T>C (p.Tyr662His) rs1171557600
NM_007347.5(AP4E1):c.2040T>G (p.Ile680Met)
NM_007347.5(AP4E1):c.2053G>C (p.Asp685His)
NM_007347.5(AP4E1):c.2063G>C (p.Gly688Ala)
NM_007347.5(AP4E1):c.2076G>C (p.Glu692Asp) rs2064682624
NM_007347.5(AP4E1):c.2108T>C (p.Leu703Pro)
NM_007347.5(AP4E1):c.2114G>C (p.Gly705Ala) rs371288194
NM_007347.5(AP4E1):c.2167A>T (p.Thr723Ser) rs1180824125
NM_007347.5(AP4E1):c.222+3A>G
NM_007347.5(AP4E1):c.2267_2269del (p.Gln756_Ser757delinsPro) rs2140928521
NM_007347.5(AP4E1):c.2277_2285del (p.Glu760_Glu762del) rs2140928535
NM_007347.5(AP4E1):c.2288A>G (p.Lys763Arg)
NM_007347.5(AP4E1):c.2299G>A (p.Ala767Thr) rs1446336139
NM_007347.5(AP4E1):c.2336C>A (p.Thr779Lys) rs2140928674
NM_007347.5(AP4E1):c.2360A>T (p.Asp787Val) rs2140934224
NM_007347.5(AP4E1):c.2446T>C (p.Ser816Pro)
NM_007347.5(AP4E1):c.2450C>A (p.Ser817Tyr) rs376025300
NM_007347.5(AP4E1):c.2470G>A (p.Val824Met)
NM_007347.5(AP4E1):c.2495C>T (p.Ser832Leu) rs144189610
NM_007347.5(AP4E1):c.2503T>A (p.Leu835Met)
NM_007347.5(AP4E1):c.250C>A (p.Leu84Ile)
NM_007347.5(AP4E1):c.250C>T (p.Leu84Phe)
NM_007347.5(AP4E1):c.254T>C (p.Ile85Thr) rs147005786
NM_007347.5(AP4E1):c.2561A>T (p.Asp854Val)
NM_007347.5(AP4E1):c.25C>G (p.Leu9Val)
NM_007347.5(AP4E1):c.2606A>G (p.Tyr869Cys)
NM_007347.5(AP4E1):c.2653A>G (p.Ile885Val)
NM_007347.5(AP4E1):c.2654T>A (p.Ile885Asn)
NM_007347.5(AP4E1):c.2686G>C (p.Val896Leu)
NM_007347.5(AP4E1):c.2692A>C (p.Lys898Gln) rs753791503
NM_007347.5(AP4E1):c.2698A>G (p.Ser900Gly)
NM_007347.5(AP4E1):c.277G>C (p.Asp93His) rs2141131462
NM_007347.5(AP4E1):c.2810A>G (p.Asp937Gly)
NM_007347.5(AP4E1):c.2846A>G (p.Lys949Arg)
NM_007347.5(AP4E1):c.2863A>G (p.Lys955Glu) rs2140935285
NM_007347.5(AP4E1):c.2866A>C (p.Ser956Arg) rs2140935290
NM_007347.5(AP4E1):c.2966A>G (p.Gln989Arg)
NM_007347.5(AP4E1):c.2979G>C (p.Gln993His) rs764568243
NM_007347.5(AP4E1):c.29C>T (p.Thr10Met)
NM_007347.5(AP4E1):c.3026A>G (p.Tyr1009Cys)
NM_007347.5(AP4E1):c.3033G>T (p.Met1011Ile) rs199619418
NM_007347.5(AP4E1):c.3043C>G (p.His1015Asp) rs746806639
NM_007347.5(AP4E1):c.3091A>G (p.Ile1031Val) rs2140936968
NM_007347.5(AP4E1):c.3163A>C (p.Asn1055His)
NM_007347.5(AP4E1):c.3194T>C (p.Leu1065Pro) rs2140939426
NM_007347.5(AP4E1):c.3210G>C (p.Lys1070Asn)
NM_007347.5(AP4E1):c.3257A>G (p.Asn1086Ser)
NM_007347.5(AP4E1):c.3266T>C (p.Leu1089Pro)
NM_007347.5(AP4E1):c.3347G>T (p.Arg1116Ile)
NM_007347.5(AP4E1):c.3365T>C (p.Leu1122Pro) rs2140941227
NM_007347.5(AP4E1):c.355G>T (p.Ala119Ser)
NM_007347.5(AP4E1):c.382C>T (p.His128Tyr) rs2063738778
NM_007347.5(AP4E1):c.384T>G (p.His128Gln)
NM_007347.5(AP4E1):c.415G>A (p.Val139Ile)
NM_007347.5(AP4E1):c.429G>C (p.Gln143His)
NM_007347.5(AP4E1):c.442G>A (p.Val148Ile) rs1368242720
NM_007347.5(AP4E1):c.466G>A (p.Val156Ile) rs765951750
NM_007347.5(AP4E1):c.490G>A (p.Glu164Lys)
NM_007347.5(AP4E1):c.541A>C (p.Lys181Gln) rs1404968090
NM_007347.5(AP4E1):c.547A>T (p.Ile183Phe)
NM_007347.5(AP4E1):c.575T>C (p.Leu192Ser)
NM_007347.5(AP4E1):c.617T>C (p.Ile206Thr) rs1264635526
NM_007347.5(AP4E1):c.638C>T (p.Ala213Val) rs1555455254
NM_007347.5(AP4E1):c.656T>C (p.Val219Ala) rs2141154677
NM_007347.5(AP4E1):c.67G>A (p.Gly23Ser)
NM_007347.5(AP4E1):c.68G>T (p.Gly23Val) rs2141120985
NM_007347.5(AP4E1):c.697A>T (p.Ile233Phe)
NM_007347.5(AP4E1):c.702+5G>A
NM_007347.5(AP4E1):c.703-11G>A
NM_007347.5(AP4E1):c.721A>G (p.Lys241Glu) rs2141157729
NM_007347.5(AP4E1):c.782T>G (p.Val261Gly)
NM_007347.5(AP4E1):c.790A>G (p.Asn264Asp) rs2141157904
NM_007347.5(AP4E1):c.86A>C (p.Lys29Thr)
NM_007347.5(AP4E1):c.875G>A (p.Ser292Asn) rs763213142
NM_007347.5(AP4E1):c.910C>G (p.Arg304Gly) rs569567659
NM_007347.5(AP4E1):c.934G>A (p.Val312Ile)
NM_007347.5(AP4E1):c.953T>C (p.Phe318Ser)
NM_007347.5(AP4E1):c.965A>G (p.His322Arg) rs1487752504
NM_007347.5(AP4E1):c.976T>A (p.Ser326Thr)
NM_014231.5(VAMP1):c.129G>C (p.Glu43Asp)
NM_014231.5(VAMP1):c.130-6C>G rs781012325
NM_014231.5(VAMP1):c.146G>A (p.Arg49His)
NM_014231.5(VAMP1):c.159C>G (p.Asp53Glu)
NM_014231.5(VAMP1):c.16C>G (p.Gln6Glu)
NM_014231.5(VAMP1):c.17A>C (p.Gln6Pro)
NM_014231.5(VAMP1):c.203G>A (p.Arg68Gln)
NM_014231.5(VAMP1):c.20C>T (p.Pro7Leu)
NM_014231.5(VAMP1):c.291G>C (p.Met97Ile)
NM_014231.5(VAMP1):c.311T>C (p.Ile104Thr)
NM_014231.5(VAMP1):c.324C>T (p.Ile108=)
NM_014231.5(VAMP1):c.338dup (p.Ile114fs)
NM_014231.5(VAMP1):c.341-18C>A
NM_014231.5(VAMP1):c.341-2A>G
NM_014231.5(VAMP1):c.341T>C (p.Ile114Thr) rs2137003108
NM_014231.5(VAMP1):c.346T>C (p.Phe116Leu)
NM_014231.5(VAMP1):c.55G>C (p.Gly19Arg)
NM_014231.5(VAMP1):c.58G>A (p.Gly20Ser) rs1950023147
NM_014231.5(VAMP1):c.71C>A (p.Pro24His)
NM_014231.5(VAMP1):c.74C>T (p.Pro25Leu) rs2137008968
NM_014363.6(SACS):c.10076C>A (p.Thr3359Lys) rs368089670
NM_014363.6(SACS):c.10126G>A (p.Ala3376Thr)
NM_014363.6(SACS):c.10175A>G (p.Asn3392Ser) rs746316505
NM_014363.6(SACS):c.10197G>A (p.Met3399Ile)
NM_014363.6(SACS):c.10298C>G (p.Thr3433Arg) rs200991790
NM_014363.6(SACS):c.10327A>C (p.Lys3443Gln) rs768317695
NM_014363.6(SACS):c.10340C>T (p.Ser3447Leu) rs2137575641
NM_014363.6(SACS):c.10387T>C (p.Tyr3463His) rs1883623876
NM_014363.6(SACS):c.1058G>A (p.Gly353Glu)
NM_014363.6(SACS):c.10708A>T (p.Ile3570Leu) rs878854977
NM_014363.6(SACS):c.10724A>T (p.His3575Leu) rs370579192
NM_014363.6(SACS):c.10780A>G (p.Ile3594Val) rs994425261
NM_014363.6(SACS):c.10791_10792delinsAA (p.Gln3598Lys)
NM_014363.6(SACS):c.10917G>T (p.Leu3639Phe)
NM_014363.6(SACS):c.11143A>G (p.Ser3715Gly)
NM_014363.6(SACS):c.11165G>A (p.Ser3722Asn)
NM_014363.6(SACS):c.11168A>T (p.Asp3723Val)
NM_014363.6(SACS):c.11227C>T (p.Pro3743Ser)
NM_014363.6(SACS):c.11257A>G (p.Arg3753Gly) rs1883560944
NM_014363.6(SACS):c.11274_11276del (p.Ile3758_Thr3759delinsMet)
NM_014363.6(SACS):c.11291A>C (p.Glu3764Ala) rs1593122374
NM_014363.6(SACS):c.11319_11321del (p.Arg3774del) rs1883553503
NM_014363.6(SACS):c.11326A>G (p.Ile3776Val) rs770269690
NM_014363.6(SACS):c.11335T>A (p.Phe3779Ile)
NM_014363.6(SACS):c.11350A>G (p.Lys3784Glu)
NM_014363.6(SACS):c.11402A>G (p.Asp3801Gly)
NM_014363.6(SACS):c.11500A>G (p.Thr3834Ala)
NM_014363.6(SACS):c.11517C>G (p.Phe3839Leu)
NM_014363.6(SACS):c.1153A>G (p.Lys385Glu) rs1281714392
NM_014363.6(SACS):c.11540T>C (p.Ile3847Thr)
NM_014363.6(SACS):c.11693A>G (p.Asp3898Gly)
NM_014363.6(SACS):c.11774A>T (p.Asp3925Val)
NM_014363.6(SACS):c.11963A>G (p.Lys3988Arg) rs1883502413
NM_014363.6(SACS):c.11965G>T (p.Val3989Phe)
NM_014363.6(SACS):c.12025G>A (p.Glu4009Lys) rs990358595
NM_014363.6(SACS):c.12073A>G (p.Asn4025Asp) rs1883495382
NM_014363.6(SACS):c.12233G>A (p.Arg4078Gln)
NM_014363.6(SACS):c.12242A>G (p.Asn4081Ser) rs1060503432
NM_014363.6(SACS):c.12326C>A (p.Ala4109Glu) rs2137559516
NM_014363.6(SACS):c.12404A>G (p.Lys4135Arg)
NM_014363.6(SACS):c.12434C>G (p.Ser4145Cys)
NM_014363.6(SACS):c.12532C>T (p.Pro4178Ser)
NM_014363.6(SACS):c.12682G>C (p.Asp4228His) rs1447327391
NM_014363.6(SACS):c.12820A>G (p.Arg4274Gly) rs1566055596
NM_014363.6(SACS):c.12866C>A (p.Ser4289Tyr)
NM_014363.6(SACS):c.12896A>G (p.Lys4299Arg)
NM_014363.6(SACS):c.12905C>A (p.Ser4302Tyr) rs778808568
NM_014363.6(SACS):c.12934_12935delinsAA (p.Ser4312Asn)
NM_014363.6(SACS):c.13079A>T (p.Asn4360Ile)
NM_014363.6(SACS):c.1310C>G (p.Thr437Arg) rs199657817
NM_014363.6(SACS):c.13122G>C (p.Arg4374Ser) rs2137551679
NM_014363.6(SACS):c.13165T>G (p.Ser4389Ala) rs2137551379
NM_014363.6(SACS):c.13214C>T (p.Ala4405Val) rs1300062381
NM_014363.6(SACS):c.13225A>G (p.Lys4409Glu) rs775817492
NM_014363.6(SACS):c.13271C>T (p.Ala4424Val) rs1883403045
NM_014363.6(SACS):c.13281_13282delinsAG (p.Tyr4428Asp)
NM_014363.6(SACS):c.13286C>G (p.Ser4429Cys) rs765818580
NM_014363.6(SACS):c.13378_13379delinsTA (p.Ala4460Tyr) rs1566054479
NM_014363.6(SACS):c.13474G>A (p.Val4492Met) rs774647600
NM_014363.6(SACS):c.13526T>C (p.Ile4509Thr)
NM_014363.6(SACS):c.13699A>G (p.Ile4567Val)
NM_014363.6(SACS):c.13738_13739del (p.Ter4580LysextTer?) rs776682685
NM_014363.6(SACS):c.137T>G (p.Val46Gly) rs1593160887
NM_014363.6(SACS):c.1391T>G (p.Ile464Ser) rs1593144937
NM_014363.6(SACS):c.1507A>G (p.Lys503Glu)
NM_014363.6(SACS):c.1510G>A (p.Ala504Thr)
NM_014363.6(SACS):c.1525A>G (p.Ile509Val) rs1566080067
NM_014363.6(SACS):c.1693A>C (p.Ile565Leu) rs772240153
NM_014363.6(SACS):c.1807A>G (p.Lys603Glu) rs983822008
NM_014363.6(SACS):c.2062G>A (p.Val688Ile)
NM_014363.6(SACS):c.2066T>C (p.Ile689Thr)
NM_014363.6(SACS):c.2233_2235delinsTTC (p.Arg745Phe) rs1869237949
NM_014363.6(SACS):c.2312G>T (p.Arg771Ile) rs2137645196
NM_014363.6(SACS):c.2404C>T (p.Leu802Phe) rs1869215579
NM_014363.6(SACS):c.2414G>C (p.Arg805Thr)
NM_014363.6(SACS):c.2437A>G (p.Thr813Ala)
NM_014363.6(SACS):c.2488G>C (p.Asp830His)
NM_014363.6(SACS):c.2573C>T (p.Ser858Phe)
NM_014363.6(SACS):c.2599T>C (p.Tyr867His) rs774682589
NM_014363.6(SACS):c.2801C>T (p.Ser934Phe)
NM_014363.6(SACS):c.2996T>G (p.Ile999Ser)
NM_014363.6(SACS):c.3055A>G (p.Asn1019Asp) rs1566071225
NM_014363.6(SACS):c.3329T>C (p.Ile1110Thr) rs1869108945
NM_014363.6(SACS):c.3370C>T (p.Leu1124Phe)
NM_014363.6(SACS):c.3641G>A (p.Gly1214Glu)
NM_014363.6(SACS):c.367G>T (p.Asp123Tyr)
NM_014363.6(SACS):c.3689TTG[2] (p.Val1232del)
NM_014363.6(SACS):c.3691G>C (p.Val1231Leu)
NM_014363.6(SACS):c.3739C>A (p.Gln1247Lys) rs1869063828
NM_014363.6(SACS):c.3774C>A (p.Phe1258Leu)
NM_014363.6(SACS):c.377C>G (p.Ala126Gly) rs1476132092
NM_014363.6(SACS):c.3814G>A (p.Ala1272Thr)
NM_014363.6(SACS):c.3840T>A (p.Thr1280=) rs1319754110
NM_014363.6(SACS):c.3857C>T (p.Pro1286Leu)
NM_014363.6(SACS):c.3886C>G (p.His1296Asp)
NM_014363.6(SACS):c.3971T>C (p.Ile1324Thr)
NM_014363.6(SACS):c.4216G>A (p.Asp1406Asn)
NM_014363.6(SACS):c.4457A>T (p.Asp1486Val) rs2137627584
NM_014363.6(SACS):c.4505A>T (p.Asn1502Ile) rs1246233364
NM_014363.6(SACS):c.4587A>G (p.Gln1529=) rs1868971659
NM_014363.6(SACS):c.4651G>A (p.Asp1551Asn)
NM_014363.6(SACS):c.4753A>G (p.Ile1585Val) rs2137624716
NM_014363.6(SACS):c.4888C>G (p.Pro1630Ala)
NM_014363.6(SACS):c.5012C>T (p.Ser1671Phe)
NM_014363.6(SACS):c.5035T>A (p.Cys1679Ser)
NM_014363.6(SACS):c.5079G>A (p.Met1693Ile) rs775069857
NM_014363.6(SACS):c.5141T>C (p.Ile1714Thr) rs2137621295
NM_014363.6(SACS):c.5304_5306del (p.His1769del) rs1555252136
NM_014363.6(SACS):c.5320A>T (p.Ile1774Phe)
NM_014363.6(SACS):c.5328T>A (p.Asp1776Glu)
NM_014363.6(SACS):c.5450C>T (p.Thr1817Met) rs898102157
NM_014363.6(SACS):c.5468G>T (p.Cys1823Phe) rs967386746
NM_014363.6(SACS):c.5498C>T (p.Ser1833Phe)
NM_014363.6(SACS):c.5585C>G (p.Thr1862Arg)
NM_014363.6(SACS):c.559G>T (p.Val187Phe) rs1344578174
NM_014363.6(SACS):c.55G>A (p.Gly19Ser) rs1871680324
NM_014363.6(SACS):c.5622A>C (p.Leu1874Phe)
NM_014363.6(SACS):c.5674G>A (p.Val1892Ile) rs2137616839
NM_014363.6(SACS):c.5684A>G (p.Asn1895Ser)
NM_014363.6(SACS):c.5711C>T (p.Thr1904Ile) rs758570844
NM_014363.6(SACS):c.5747T>A (p.Val1916Asp)
NM_014363.6(SACS):c.5768A>C (p.Gln1923Pro) rs1868830508
NM_014363.6(SACS):c.5858A>T (p.His1953Leu) rs1428265468
NM_014363.6(SACS):c.5920G>A (p.Glu1974Lys)
NM_014363.6(SACS):c.5927C>G (p.Thr1976Ser)
NM_014363.6(SACS):c.5935T>G (p.Phe1979Val)
NM_014363.6(SACS):c.5998A>G (p.Lys2000Glu)
NM_014363.6(SACS):c.6007G>A (p.Asp2003Asn)
NM_014363.6(SACS):c.600A>G (p.Ile200Met) rs2137742429
NM_014363.6(SACS):c.6019G>C (p.Ala2007Pro)
NM_014363.6(SACS):c.605A>G (p.Asp202Gly) rs777554091
NM_014363.6(SACS):c.614G>T (p.Cys205Phe) rs2137729432
NM_014363.6(SACS):c.6281T>A (p.Val2094Asp)
NM_014363.6(SACS):c.6343C>T (p.His2115Tyr) rs757161092
NM_014363.6(SACS):c.6362C>T (p.Ala2121Val)
NM_014363.6(SACS):c.6436A>G (p.Ile2146Val) rs1415663565
NM_014363.6(SACS):c.6455G>A (p.Gly2152Asp)
NM_014363.6(SACS):c.6460G>T (p.Ala2154Ser) rs146031135
NM_014363.6(SACS):c.653A>T (p.His218Leu)
NM_014363.6(SACS):c.6679T>A (p.Leu2227Met) rs1868697576
NM_014363.6(SACS):c.6702T>A (p.Phe2234Leu) rs774487714
NM_014363.6(SACS):c.6739A>G (p.Thr2247Ala) rs1272133291
NM_014363.6(SACS):c.674A>G (p.His225Arg)
NM_014363.6(SACS):c.6751C>A (p.Gln2251Lys) rs747293426
NM_014363.6(SACS):c.675T>G (p.His225Gln) rs2137729069
NM_014363.6(SACS):c.6822_6833del (p.Ser2275_Val2278del)
NM_014363.6(SACS):c.6871G>C (p.Asp2291His) rs1170939021
NM_014363.6(SACS):c.6897A>C (p.Glu2299Asp)
NM_014363.6(SACS):c.703G>T (p.Asp235Tyr)
NM_014363.6(SACS):c.7052A>G (p.Asn2351Ser)
NM_014363.6(SACS):c.7079C>A (p.Ser2360Tyr)
NM_014363.6(SACS):c.7216T>C (p.Ser2406Pro) rs2137602722
NM_014363.6(SACS):c.7319A>G (p.Lys2440Arg)
NM_014363.6(SACS):c.745C>T (p.Pro249Ser)
NM_014363.6(SACS):c.7464A>G (p.Ile2488Met) rs1593127405
NM_014363.6(SACS):c.7520A>G (p.Glu2507Gly)
NM_014363.6(SACS):c.7585A>G (p.Thr2529Ala)
NM_014363.6(SACS):c.7586C>A (p.Thr2529Asn) rs1320224325
NM_014363.6(SACS):c.7794A>T (p.Glu2598Asp) rs1490465452
NM_014363.6(SACS):c.7955C>T (p.Ala2652Val)
NM_014363.6(SACS):c.8161A>G (p.Arg2721Gly) rs1868522362
NM_014363.6(SACS):c.8222T>C (p.Leu2741Pro)
NM_014363.6(SACS):c.8232G>A (p.Met2744Ile)
NM_014363.6(SACS):c.8238A>C (p.Lys2746Asn) rs1029961212
NM_014363.6(SACS):c.8288A>G (p.Tyr2763Cys)
NM_014363.6(SACS):c.8300G>A (p.Gly2767Asp)
NM_014363.6(SACS):c.8384A>G (p.Lys2795Arg)
NM_014363.6(SACS):c.8388_8402del (p.Asp2796_Gln2801delinsGlu) rs1593126382
NM_014363.6(SACS):c.8395G>C (p.Val2799Leu)
NM_014363.6(SACS):c.8575C>G (p.His2859Asp)
NM_014363.6(SACS):c.862_863delinsTC (p.Asn288Ser) rs1555254433
NM_014363.6(SACS):c.8641T>G (p.Phe2881Val)
NM_014363.6(SACS):c.8702A>G (p.Asn2901Ser)
NM_014363.6(SACS):c.8803C>T (p.Pro2935Ser)
NM_014363.6(SACS):c.9103T>G (p.Leu3035Val)
NM_014363.6(SACS):c.9143G>A (p.Arg3048His) rs553929593
NM_014363.6(SACS):c.9163G>A (p.Val3055Ile)
NM_014363.6(SACS):c.9259G>A (p.Asp3087Asn) rs2137585503
NM_014363.6(SACS):c.9328A>G (p.Thr3110Ala) rs1883705967
NM_014363.6(SACS):c.9346_9354dup (p.Lys3116_Pro3118dup) rs2137584629
NM_014363.6(SACS):c.9353C>T (p.Pro3118Leu)
NM_014363.6(SACS):c.9515A>G (p.Lys3172Arg)
NM_014363.6(SACS):c.9519T>G (p.Phe3173Leu) rs780746393
NM_014363.6(SACS):c.9605A>C (p.Asn3202Thr)
NM_014363.6(SACS):c.9608G>A (p.Cys3203Tyr)
NM_014363.6(SACS):c.9671G>C (p.Arg3224Pro) rs763546908
NM_014363.6(SACS):c.9808_9810del (p.Ile3270del)
NM_014363.6(SACS):c.9949A>G (p.Ser3317Gly) rs769422067
NM_014363.6(SACS):c.9955A>G (p.Lys3319Glu) rs1566060408
NM_015346.4(ZFYVE26):c.1006G>A (p.Glu336Lys)
NM_015346.4(ZFYVE26):c.1007A>G (p.Glu336Gly) rs1018829073
NM_015346.4(ZFYVE26):c.1041AGA[2] (p.Glu349del) rs758434974
NM_015346.4(ZFYVE26):c.1051T>A (p.Phe351Ile)
NM_015346.4(ZFYVE26):c.1064G>A (p.Gly355Asp)
NM_015346.4(ZFYVE26):c.1067_1068delinsTT (p.Cys356Phe)
NM_015346.4(ZFYVE26):c.1073T>C (p.Leu358Pro) rs2040164683
NM_015346.4(ZFYVE26):c.109C>T (p.Pro37Ser) rs2140260881
NM_015346.4(ZFYVE26):c.1126C>T (p.His376Tyr)
NM_015346.4(ZFYVE26):c.1130G>A (p.Cys377Tyr)
NM_015346.4(ZFYVE26):c.1174A>G (p.Arg392Gly) rs1269973441
NM_015346.4(ZFYVE26):c.1183-3T>C
NM_015346.4(ZFYVE26):c.1196A>G (p.Asp399Gly) rs1374908015
NM_015346.4(ZFYVE26):c.121_122delinsAT (p.Glu41Met)
NM_015346.4(ZFYVE26):c.1229G>T (p.Trp410Leu) rs2140249674
NM_015346.4(ZFYVE26):c.1231G>A (p.Ala411Thr)
NM_015346.4(ZFYVE26):c.1236C>A (p.His412Gln) rs2040153637
NM_015346.4(ZFYVE26):c.1237C>G (p.Leu413Val)
NM_015346.4(ZFYVE26):c.1280T>C (p.Ile427Thr)
NM_015346.4(ZFYVE26):c.130G>T (p.Gly44Trp)
NM_015346.4(ZFYVE26):c.1311C>A (p.His437Gln)
NM_015346.4(ZFYVE26):c.1319A>G (p.Asp440Gly) rs200389391
NM_015346.4(ZFYVE26):c.1319A>T (p.Asp440Val)
NM_015346.4(ZFYVE26):c.1342C>T (p.Leu448Phe)
NM_015346.4(ZFYVE26):c.1367C>T (p.Ala456Val) rs955123371
NM_015346.4(ZFYVE26):c.1423C>A (p.Gln475Lys) rs2140248496
NM_015346.4(ZFYVE26):c.1451C>T (p.Pro484Leu)
NM_015346.4(ZFYVE26):c.148G>A (p.Val50Ile)
NM_015346.4(ZFYVE26):c.1522A>G (p.Ile508Val)
NM_015346.4(ZFYVE26):c.1580G>C (p.Ser527Thr) rs2140246692
NM_015346.4(ZFYVE26):c.1582C>T (p.Leu528Phe) rs2040089545
NM_015346.4(ZFYVE26):c.1593C>A (p.Asp531Glu)
NM_015346.4(ZFYVE26):c.1658C>T (p.Ser553Leu)
NM_015346.4(ZFYVE26):c.1660A>C (p.Thr554Pro) rs1346995866
NM_015346.4(ZFYVE26):c.1667T>C (p.Leu556Pro) rs2140243463
NM_015346.4(ZFYVE26):c.1675T>C (p.Cys559Arg)
NM_015346.4(ZFYVE26):c.1693A>G (p.Ser565Gly)
NM_015346.4(ZFYVE26):c.1714C>G (p.Leu572Val)
NM_015346.4(ZFYVE26):c.1720C>T (p.Leu574Phe) rs1381271651
NM_015346.4(ZFYVE26):c.1778C>T (p.Pro593Leu) rs2140243322
NM_015346.4(ZFYVE26):c.1823A>G (p.Lys608Arg)
NM_015346.4(ZFYVE26):c.1901C>G (p.Ser634Cys) rs761420970
NM_015346.4(ZFYVE26):c.1901C>T (p.Ser634Phe)
NM_015346.4(ZFYVE26):c.1935G>A (p.Met645Ile) rs2140243059
NM_015346.4(ZFYVE26):c.1968T>A (p.Ser656Arg)
NM_015346.4(ZFYVE26):c.2005A>G (p.Lys669Glu) rs2040000209
NM_015346.4(ZFYVE26):c.2021G>T (p.Gly674Val) rs1442699861
NM_015346.4(ZFYVE26):c.2027G>A (p.Ser676Asn)
NM_015346.4(ZFYVE26):c.2044G>A (p.Glu682Lys)
NM_015346.4(ZFYVE26):c.2049T>G (p.Phe683Leu)
NM_015346.4(ZFYVE26):c.2057G>T (p.Gly686Val)
NM_015346.4(ZFYVE26):c.2060C>A (p.Ala687Asp) rs1168269050
NM_015346.4(ZFYVE26):c.2074C>T (p.Leu692Phe) rs759435050
NM_015346.4(ZFYVE26):c.2135G>A (p.Ser712Asn)
NM_015346.4(ZFYVE26):c.2173C>T (p.Arg725Cys)
NM_015346.4(ZFYVE26):c.2179C>T (p.His727Tyr)
NM_015346.4(ZFYVE26):c.2215_2217delinsTGGTGGGCTTGT (p.Arg739delinsTrpTrpAlaCys)
NM_015346.4(ZFYVE26):c.2218C>T (p.His740Tyr)
NM_015346.4(ZFYVE26):c.2239C>A (p.His747Asn) rs2039993133
NM_015346.4(ZFYVE26):c.2243G>A (p.Arg748His)
NM_015346.4(ZFYVE26):c.2245T>C (p.Ser749Pro) rs2140242560
NM_015346.4(ZFYVE26):c.2247A>T (p.Ser749=)
NM_015346.4(ZFYVE26):c.227C>A (p.Ala76Asp) rs770415843
NM_015346.4(ZFYVE26):c.2285G>A (p.Arg762His)
NM_015346.4(ZFYVE26):c.2302C>T (p.Arg768Trp)
NM_015346.4(ZFYVE26):c.2303G>A (p.Arg768Gln)
NM_015346.4(ZFYVE26):c.2339G>A (p.Arg780Gln)
NM_015346.4(ZFYVE26):c.2355C>A (p.Asn785Lys)
NM_015346.4(ZFYVE26):c.2375G>A (p.Ser792Asn)
NM_015346.4(ZFYVE26):c.2401+4T>G rs2140238470
NM_015346.4(ZFYVE26):c.2414G>A (p.Ser805Asn) rs751853980
NM_015346.4(ZFYVE26):c.2423C>G (p.Ser808Cys)
NM_015346.4(ZFYVE26):c.2452C>T (p.His818Tyr)
NM_015346.4(ZFYVE26):c.2470T>C (p.Ser824Pro)
NM_015346.4(ZFYVE26):c.251A>G (p.Glu84Gly)
NM_015346.4(ZFYVE26):c.2528G>A (p.Arg843His)
NM_015346.4(ZFYVE26):c.2530G>A (p.Gly844Arg)
NM_015346.4(ZFYVE26):c.2545G>A (p.Ala849Thr)
NM_015346.4(ZFYVE26):c.2554-3C>T
NM_015346.4(ZFYVE26):c.2584C>A (p.Pro862Thr)
NM_015346.4(ZFYVE26):c.2584C>T (p.Pro862Ser)
NM_015346.4(ZFYVE26):c.2668C>G (p.Gln890Glu)
NM_015346.4(ZFYVE26):c.266G>A (p.Arg89Gln) rs138664542
NM_015346.4(ZFYVE26):c.266G>C (p.Arg89Pro) rs138664542
NM_015346.4(ZFYVE26):c.2674T>C (p.Ser892Pro) rs894316328
NM_015346.4(ZFYVE26):c.2699G>A (p.Arg900Gln)
NM_015346.4(ZFYVE26):c.2710A>T (p.Ser904Cys)
NM_015346.4(ZFYVE26):c.2801A>G (p.Asn934Ser)
NM_015346.4(ZFYVE26):c.2801A>T (p.Asn934Ile) rs776133422
NM_015346.4(ZFYVE26):c.280C>T (p.Leu94Phe)
NM_015346.4(ZFYVE26):c.2813A>C (p.Asp938Ala)
NM_015346.4(ZFYVE26):c.2843G>C (p.Trp948Ser)
NM_015346.4(ZFYVE26):c.2875C>T (p.Pro959Ser)
NM_015346.4(ZFYVE26):c.2905C>T (p.Pro969Ser) rs1315958519
NM_015346.4(ZFYVE26):c.2909C>G (p.Pro970Arg) rs769364228
NM_015346.4(ZFYVE26):c.2909C>T (p.Pro970Leu)
NM_015346.4(ZFYVE26):c.2990G>A (p.Arg997Gln)
NM_015346.4(ZFYVE26):c.3017G>A (p.Arg1006Gln)
NM_015346.4(ZFYVE26):c.3023G>A (p.Arg1008Gln)
NM_015346.4(ZFYVE26):c.3025C>G (p.Arg1009Gly)
NM_015346.4(ZFYVE26):c.3025C>T (p.Arg1009Trp) rs374605354
NM_015346.4(ZFYVE26):c.3035A>G (p.His1012Arg)
NM_015346.4(ZFYVE26):c.3044T>C (p.Leu1015Pro) rs864622152
NM_015346.4(ZFYVE26):c.3049G>A (p.Ala1017Thr)
NM_015346.4(ZFYVE26):c.3055G>A (p.Gly1019Ser)
NM_015346.4(ZFYVE26):c.3073GTT[1] (p.Val1026del)
NM_015346.4(ZFYVE26):c.3077T>C (p.Val1026Ala) rs748310249
NM_015346.4(ZFYVE26):c.3125G>A (p.Ser1042Asn)
NM_015346.4(ZFYVE26):c.3160G>A (p.Gly1054Arg) rs1555397587
NM_015346.4(ZFYVE26):c.3173G>A (p.Arg1058Gln)
NM_015346.4(ZFYVE26):c.3191T>C (p.Leu1064Pro) rs1594917272
NM_015346.4(ZFYVE26):c.3239A>T (p.His1080Leu)
NM_015346.4(ZFYVE26):c.3266A>G (p.Gln1089Arg) rs1555397555
NM_015346.4(ZFYVE26):c.3269T>C (p.Val1090Ala) rs2140227607
NM_015346.4(ZFYVE26):c.3271C>T (p.Leu1091Phe)
NM_015346.4(ZFYVE26):c.3275A>G (p.Gln1092Arg)
NM_015346.4(ZFYVE26):c.3281T>G (p.Leu1094Arg) rs1555397549
NM_015346.4(ZFYVE26):c.3308C>A (p.Pro1103His) rs3742885
NM_015346.4(ZFYVE26):c.3368A>G (p.Glu1123Gly)
NM_015346.4(ZFYVE26):c.3374A>C (p.His1125Pro) rs2140226565
NM_015346.4(ZFYVE26):c.3376C>A (p.Pro1126Thr) rs202103136
NM_015346.4(ZFYVE26):c.343A>G (p.Ile115Val)
NM_015346.4(ZFYVE26):c.3470G>A (p.Ser1157Asn) rs1060500989
NM_015346.4(ZFYVE26):c.3478A>G (p.Ser1160Gly) rs2039613065
NM_015346.4(ZFYVE26):c.3482C>T (p.Thr1161Ile)
NM_015346.4(ZFYVE26):c.3484C>T (p.Leu1162Phe)
NM_015346.4(ZFYVE26):c.3523+5del rs2039611492
NM_015346.4(ZFYVE26):c.3540G>C (p.Lys1180Asn)
NM_015346.4(ZFYVE26):c.3681C>G (p.Ile1227Met)
NM_015346.4(ZFYVE26):c.3682G>A (p.Val1228Ile)
NM_015346.4(ZFYVE26):c.368T>C (p.Leu123Pro) rs2040220014
NM_015346.4(ZFYVE26):c.3736A>G (p.Thr1246Ala)
NM_015346.4(ZFYVE26):c.3827C>T (p.Pro1276Leu)
NM_015346.4(ZFYVE26):c.3892C>T (p.Pro1298Ser)
NM_015346.4(ZFYVE26):c.3905C>T (p.Ser1302Phe)
NM_015346.4(ZFYVE26):c.3917C>T (p.Ala1306Val)
NM_015346.4(ZFYVE26):c.3946G>C (p.Ala1316Pro) rs2140223389
NM_015346.4(ZFYVE26):c.3974C>T (p.Pro1325Leu)
NM_015346.4(ZFYVE26):c.3985G>T (p.Val1329Phe) rs758842694
NM_015346.4(ZFYVE26):c.401A>C (p.His134Pro)
NM_015346.4(ZFYVE26):c.4024C>G (p.Arg1342Gly) rs368778263
NM_015346.4(ZFYVE26):c.4024C>T (p.Arg1342Cys)
NM_015346.4(ZFYVE26):c.4025G>T (p.Arg1342Leu)
NM_015346.4(ZFYVE26):c.4028G>A (p.Arg1343Lys)
NM_015346.4(ZFYVE26):c.4048G>A (p.Glu1350Lys)
NM_015346.4(ZFYVE26):c.4061G>A (p.Arg1354Gln)
NM_015346.4(ZFYVE26):c.4070A>G (p.Glu1357Gly)
NM_015346.4(ZFYVE26):c.4108C>T (p.Leu1370Phe)
NM_015346.4(ZFYVE26):c.4114G>T (p.Ala1372Ser)
NM_015346.4(ZFYVE26):c.412G>A (p.Gly138Arg)
NM_015346.4(ZFYVE26):c.4160T>C (p.Leu1387Pro) rs1336592776
NM_015346.4(ZFYVE26):c.4171C>G (p.Leu1391Val) rs1347292571
NM_015346.4(ZFYVE26):c.4184C>T (p.Ala1395Val)
NM_015346.4(ZFYVE26):c.4198G>A (p.Val1400Ile)
NM_015346.4(ZFYVE26):c.4201C>T (p.Leu1401Phe)
NM_015346.4(ZFYVE26):c.423G>C (p.Arg141Ser)
NM_015346.4(ZFYVE26):c.4277G>T (p.Trp1426Leu)
NM_015346.4(ZFYVE26):c.4280C>T (p.Ser1427Phe)
NM_015346.4(ZFYVE26):c.4282C>T (p.Arg1428Trp)
NM_015346.4(ZFYVE26):c.4283G>T (p.Arg1428Leu) rs371511765
NM_015346.4(ZFYVE26):c.4288C>T (p.Leu1430Phe)
NM_015346.4(ZFYVE26):c.4302A>T (p.Glu1434Asp)
NM_015346.4(ZFYVE26):c.4309G>A (p.Gly1437Arg)
NM_015346.4(ZFYVE26):c.4316A>G (p.Asp1439Gly)
NM_015346.4(ZFYVE26):c.4323C>A (p.Asp1441Glu) rs751803624
NM_015346.4(ZFYVE26):c.4345G>A (p.Ala1449Thr) rs1475111598
NM_015346.4(ZFYVE26):c.4348G>T (p.Val1450Phe)
NM_015346.4(ZFYVE26):c.4355G>T (p.Ser1452Ile)
NM_015346.4(ZFYVE26):c.4360G>T (p.Ala1454Ser)
NM_015346.4(ZFYVE26):c.4369T>A (p.Cys1457Ser) rs2039534702
NM_015346.4(ZFYVE26):c.4370G>C (p.Cys1457Ser)
NM_015346.4(ZFYVE26):c.4373A>G (p.Asp1458Gly)
NM_015346.4(ZFYVE26):c.443G>A (p.Arg148His) rs144919978
NM_015346.4(ZFYVE26):c.443G>T (p.Arg148Leu) rs144919978
NM_015346.4(ZFYVE26):c.4492A>C (p.Ile1498Leu) rs1284822199
NM_015346.4(ZFYVE26):c.4502C>A (p.Thr1501Lys) rs201034965
NM_015346.4(ZFYVE26):c.4502C>T (p.Thr1501Met) rs201034965
NM_015346.4(ZFYVE26):c.4561T>C (p.Tyr1521His)
NM_015346.4(ZFYVE26):c.4588C>T (p.Pro1530Ser)
NM_015346.4(ZFYVE26):c.4621A>G (p.Ser1541Gly)
NM_015346.4(ZFYVE26):c.4651A>T (p.Met1551Leu)
NM_015346.4(ZFYVE26):c.4657A>G (p.Met1553Val)
NM_015346.4(ZFYVE26):c.4674+6G>A
NM_015346.4(ZFYVE26):c.4675-3C>T
NM_015346.4(ZFYVE26):c.475G>C (p.Asp159His)
NM_015346.4(ZFYVE26):c.4777G>C (p.Asp1593His) rs1286765050
NM_015346.4(ZFYVE26):c.4781A>G (p.His1594Arg)
NM_015346.4(ZFYVE26):c.4789G>A (p.Ala1597Thr)
NM_015346.4(ZFYVE26):c.4805G>A (p.Arg1602Gln)
NM_015346.4(ZFYVE26):c.4826T>C (p.Met1609Thr)
NM_015346.4(ZFYVE26):c.4898A>G (p.Tyr1633Cys)
NM_015346.4(ZFYVE26):c.4940A>G (p.His1647Arg) rs2039378790
NM_015346.4(ZFYVE26):c.4967G>C (p.Gly1656Ala) rs1402088177
NM_015346.4(ZFYVE26):c.4990C>T (p.Pro1664Ser) rs752759035
NM_015346.4(ZFYVE26):c.5043G>A (p.Met1681Ile)
NM_015346.4(ZFYVE26):c.5092G>A (p.Val1698Met)
NM_015346.4(ZFYVE26):c.5116G>A (p.Val1706Ile)
NM_015346.4(ZFYVE26):c.5168G>A (p.Arg1723Lys)
NM_015346.4(ZFYVE26):c.5209G>C (p.Glu1737Gln)
NM_015346.4(ZFYVE26):c.5224T>A (p.Ser1742Thr) rs2140211203
NM_015346.4(ZFYVE26):c.5230A>T (p.Ile1744Phe)
NM_015346.4(ZFYVE26):c.5315C>A (p.Pro1772His)
NM_015346.4(ZFYVE26):c.5317C>T (p.Pro1773Ser)
NM_015346.4(ZFYVE26):c.5369C>T (p.Pro1790Leu) rs878855012
NM_015346.4(ZFYVE26):c.5387A>C (p.Glu1796Ala)
NM_015346.4(ZFYVE26):c.5431C>T (p.Pro1811Ser) rs1012956419
NM_015346.4(ZFYVE26):c.5453G>C (p.Cys1818Ser) rs2140207338
NM_015346.4(ZFYVE26):c.5457G>A (p.Met1819Ile) rs1470344743
NM_015346.4(ZFYVE26):c.5485-8T>G rs2140204102
NM_015346.4(ZFYVE26):c.5495G>A (p.Arg1832His)
NM_015346.4(ZFYVE26):c.5497C>A (p.His1833Asn)
NM_015346.4(ZFYVE26):c.5510G>T (p.Arg1837Leu)
NM_015346.4(ZFYVE26):c.5584C>T (p.Arg1862Cys)
NM_015346.4(ZFYVE26):c.5585G>A (p.Arg1862His) rs140471625
NM_015346.4(ZFYVE26):c.5587G>A (p.Val1863Met) rs2140203929
NM_015346.4(ZFYVE26):c.5597A>C (p.Gln1866Pro)
NM_015346.4(ZFYVE26):c.5599T>C (p.Cys1867Arg)
NM_015346.4(ZFYVE26):c.5611T>C (p.Cys1871Arg) rs747790566
NM_015346.4(ZFYVE26):c.5632G>A (p.Glu1878Lys) rs2039119637
NM_015346.4(ZFYVE26):c.5654-3C>T rs878855014
NM_015346.4(ZFYVE26):c.5677A>G (p.Ser1893Gly)
NM_015346.4(ZFYVE26):c.5690C>T (p.Ser1897Leu)
NM_015346.4(ZFYVE26):c.5711A>G (p.Lys1904Arg) rs2039097466
NM_015346.4(ZFYVE26):c.5722G>A (p.Val1908Met)
NM_015346.4(ZFYVE26):c.5722G>T (p.Val1908Leu)
NM_015346.4(ZFYVE26):c.5723T>C (p.Val1908Ala)
NM_015346.4(ZFYVE26):c.5735T>G (p.Leu1912Trp)
NM_015346.4(ZFYVE26):c.5737G>T (p.Asp1913Tyr)
NM_015346.4(ZFYVE26):c.5750A>G (p.Glu1917Gly) rs1594896697
NM_015346.4(ZFYVE26):c.5839A>G (p.Ser1947Gly)
NM_015346.4(ZFYVE26):c.5856C>A (p.His1952Gln) rs772532225
NM_015346.4(ZFYVE26):c.5861T>A (p.Leu1954Gln)
NM_015346.4(ZFYVE26):c.5871C>G (p.His1957Gln) rs757790246
NM_015346.4(ZFYVE26):c.5875T>G (p.Cys1959Gly)
NM_015346.4(ZFYVE26):c.5880G>T (p.Arg1960Ser) rs751183425
NM_015346.4(ZFYVE26):c.5881C>A (p.Leu1961Ile) rs2140199467
NM_015346.4(ZFYVE26):c.5901C>A (p.Asn1967Lys)
NM_015346.4(ZFYVE26):c.5932A>G (p.Ile1978Val)
NM_015346.4(ZFYVE26):c.593G>A (p.Arg198Gln)
NM_015346.4(ZFYVE26):c.5943G>C (p.Gln1981His) rs1351855851
NM_015346.4(ZFYVE26):c.5952C>G (p.Phe1984Leu)
NM_015346.4(ZFYVE26):c.5971G>A (p.Val1991Ile)
NM_015346.4(ZFYVE26):c.5980G>A (p.Gly1994Ser)
NM_015346.4(ZFYVE26):c.6011+5A>C
NM_015346.4(ZFYVE26):c.6014A>G (p.Tyr2005Cys) rs1164231240
NM_015346.4(ZFYVE26):c.6061C>T (p.Arg2021Cys)
NM_015346.4(ZFYVE26):c.6064C>T (p.His2022Tyr)
NM_015346.4(ZFYVE26):c.6067G>C (p.Val2023Leu)
NM_015346.4(ZFYVE26):c.6080A>G (p.Asp2027Gly)
NM_015346.4(ZFYVE26):c.6110G>C (p.Arg2037Thr)
NM_015346.4(ZFYVE26):c.6155T>C (p.Val2052Ala)
NM_015346.4(ZFYVE26):c.6159+3G>A
NM_015346.4(ZFYVE26):c.6187A>G (p.Thr2063Ala)
NM_015346.4(ZFYVE26):c.6191G>C (p.Gly2064Ala) rs747918986
NM_015346.4(ZFYVE26):c.6193G>T (p.Ala2065Ser)
NM_015346.4(ZFYVE26):c.6220C>T (p.Leu2074Phe)
NM_015346.4(ZFYVE26):c.6248G>A (p.Arg2083Gln)
NM_015346.4(ZFYVE26):c.6262C>T (p.Arg2088Cys)
NM_015346.4(ZFYVE26):c.626C>T (p.Ser209Leu)
NM_015346.4(ZFYVE26):c.6277C>G (p.Pro2093Ala)
NM_015346.4(ZFYVE26):c.6278C>G (p.Pro2093Arg) rs2140194086
NM_015346.4(ZFYVE26):c.6290A>G (p.Asn2097Ser)
NM_015346.4(ZFYVE26):c.6312G>C (p.Arg2104Ser)
NM_015346.4(ZFYVE26):c.6312G>T (p.Arg2104Ser) rs758451085
NM_015346.4(ZFYVE26):c.6379G>A (p.Asp2127Asn)
NM_015346.4(ZFYVE26):c.6418C>T (p.Arg2140Trp)
NM_015346.4(ZFYVE26):c.6422C>T (p.Thr2141Met)
NM_015346.4(ZFYVE26):c.6479A>T (p.Tyr2160Phe)
NM_015346.4(ZFYVE26):c.647A>C (p.Asp216Ala)
NM_015346.4(ZFYVE26):c.6495C>G (p.Phe2165Leu)
NM_015346.4(ZFYVE26):c.6509A>C (p.Tyr2170Ser) rs763583609
NM_015346.4(ZFYVE26):c.6509A>G (p.Tyr2170Cys)
NM_015346.4(ZFYVE26):c.6521T>C (p.Leu2174Pro)
NM_015346.4(ZFYVE26):c.6541G>A (p.Val2181Met)
NM_015346.4(ZFYVE26):c.6559C>T (p.Arg2187Trp) rs1163205635
NM_015346.4(ZFYVE26):c.662C>G (p.Ala221Gly)
NM_015346.4(ZFYVE26):c.6655A>C (p.Thr2219Pro)
NM_015346.4(ZFYVE26):c.6676T>A (p.Ser2226Thr)
NM_015346.4(ZFYVE26):c.667C>A (p.Arg223=)
NM_015346.4(ZFYVE26):c.667C>T (p.Arg223Trp)
NM_015346.4(ZFYVE26):c.668G>A (p.Arg223Gln)
NM_015346.4(ZFYVE26):c.6728A>G (p.Gln2243Arg)
NM_015346.4(ZFYVE26):c.6738GAA[2] (p.Lys2248del) rs764479245
NM_015346.4(ZFYVE26):c.6781A>T (p.Met2261Leu) rs746645190
NM_015346.4(ZFYVE26):c.6816T>G (p.Ile2272Met)
NM_015346.4(ZFYVE26):c.6866T>C (p.Leu2289Pro) rs1566863511
NM_015346.4(ZFYVE26):c.6875T>C (p.Leu2292Pro)
NM_015346.4(ZFYVE26):c.6894C>G (p.His2298Gln)
NM_015346.4(ZFYVE26):c.6905A>G (p.Tyr2302Cys) rs199939197
NM_015346.4(ZFYVE26):c.6919T>C (p.Ser2307Pro) rs1566863424
NM_015346.4(ZFYVE26):c.6922C>T (p.Arg2308Cys)
NM_015346.4(ZFYVE26):c.6923G>A (p.Arg2308His)
NM_015346.4(ZFYVE26):c.6940A>C (p.Lys2314Gln) rs2140184349
NM_015346.4(ZFYVE26):c.6946A>G (p.Thr2316Ala)
NM_015346.4(ZFYVE26):c.695T>G (p.Leu232Arg)
NM_015346.4(ZFYVE26):c.6985A>T (p.Arg2329Trp) rs2140184295
NM_015346.4(ZFYVE26):c.6986+4G>C
NM_015346.4(ZFYVE26):c.6986G>A (p.Arg2329Lys) rs2140184291
NM_015346.4(ZFYVE26):c.7021A>G (p.Thr2341Ala)
NM_015346.4(ZFYVE26):c.7147A>C (p.Asn2383His) rs2038707498
NM_015346.4(ZFYVE26):c.7178G>A (p.Arg2393His)
NM_015346.4(ZFYVE26):c.7188+3A>G
NM_015346.4(ZFYVE26):c.7189-3T>C
NM_015346.4(ZFYVE26):c.7194C>G (p.Phe2398Leu)
NM_015346.4(ZFYVE26):c.7219T>C (p.Cys2407Arg)
NM_015346.4(ZFYVE26):c.7250A>G (p.Glu2417Gly)
NM_015346.4(ZFYVE26):c.7258A>C (p.Ser2420Arg)
NM_015346.4(ZFYVE26):c.7348G>A (p.Ala2450Thr)
NM_015346.4(ZFYVE26):c.7349C>T (p.Ala2450Val) rs2038671321
NM_015346.4(ZFYVE26):c.7371+6C>G rs894907950
NM_015346.4(ZFYVE26):c.7420C>T (p.Arg2474Trp)
NM_015346.4(ZFYVE26):c.7447C>T (p.Arg2483Cys)
NM_015346.4(ZFYVE26):c.7477G>T (p.Glu2493Ter)
NM_015346.4(ZFYVE26):c.7534G>A (p.Gly2512Arg)
NM_015346.4(ZFYVE26):c.7555A>G (p.Ile2519Val)
NM_015346.4(ZFYVE26):c.7559G>C (p.Cys2520Ser) rs1555392769
NM_015346.4(ZFYVE26):c.7565A>G (p.Gln2522Arg)
NM_015346.4(ZFYVE26):c.7570C>T (p.Leu2524Phe)
NM_015346.4(ZFYVE26):c.7586C>T (p.Pro2529Leu)
NM_015346.4(ZFYVE26):c.7588dup (p.Arg2530fs) rs2140176050
NM_015346.4(ZFYVE26):c.7606G>A (p.Gly2536Ser)
NM_015346.4(ZFYVE26):c.850A>G (p.Thr284Ala)
NM_015346.4(ZFYVE26):c.903A>G (p.Leu301=)
NM_015346.4(ZFYVE26):c.907C>A (p.Pro303Thr)
NM_015346.4(ZFYVE26):c.946C>G (p.Pro316Ala)
NM_015346.4(ZFYVE26):c.95C>T (p.Ala32Val)
NM_015346.4(ZFYVE26):c.964G>C (p.Val322Leu)
NM_020435.3(GJC2):c.-170A>G rs587777496
NM_020435.4(GJC2):c.1013G>A (p.Arg338Gln) rs1011652150
NM_020435.4(GJC2):c.1013G>T (p.Arg338Leu)
NM_020435.4(GJC2):c.1037A>T (p.His346Leu)
NM_020435.4(GJC2):c.1056C>G (p.Asn352Lys)
NM_020435.4(GJC2):c.1088C>A (p.Ala363Glu) rs1469042630
NM_020435.4(GJC2):c.1093G>A (p.Gly365Arg) rs1434548378
NM_020435.4(GJC2):c.109G>A (p.Val37Met) rs886783252
NM_020435.4(GJC2):c.1105C>T (p.Arg369Trp)
NM_020435.4(GJC2):c.1133C>T (p.Pro378Leu)
NM_020435.4(GJC2):c.1145G>A (p.Arg382Gln) rs2034731056
NM_020435.4(GJC2):c.1195T>C (p.Ser399Pro)
NM_020435.4(GJC2):c.11T>G (p.Met4Arg) rs2124965914
NM_020435.4(GJC2):c.1229G>A (p.Gly410Asp)
NM_020435.4(GJC2):c.1240C>G (p.Arg414Gly) rs769684659
NM_020435.4(GJC2):c.1249G>C (p.Ala417Pro)
NM_020435.4(GJC2):c.1289G>A (p.Ser430Asn)
NM_020435.4(GJC2):c.133G>C (p.Ala45Pro)
NM_020435.4(GJC2):c.139T>C (p.Tyr47His)
NM_020435.4(GJC2):c.195C>A (p.Asn65Lys)
NM_020435.4(GJC2):c.226C>A (p.His76Asn)
NM_020435.4(GJC2):c.231_233del (p.Arg78del)
NM_020435.4(GJC2):c.251T>C (p.Ile84Thr)
NM_020435.4(GJC2):c.292G>A (p.Ala98Thr)
NM_020435.4(GJC2):c.29C>T (p.Thr10Met)
NM_020435.4(GJC2):c.32G>A (p.Arg11Gln)
NM_020435.4(GJC2):c.338C>T (p.Ala113Val)
NM_020435.4(GJC2):c.343C>T (p.Arg115Cys) rs2124966245
NM_020435.4(GJC2):c.364C>G (p.Arg122Gly) rs1171061411
NM_020435.4(GJC2):c.368C>A (p.Ala123Glu)
NM_020435.4(GJC2):c.386C>G (p.Pro129Arg)
NM_020435.4(GJC2):c.400G>A (p.Gly134Ser)
NM_020435.4(GJC2):c.407C>G (p.Pro136Arg)
NM_020435.4(GJC2):c.409G>C (p.Glu137Gln) rs2124966310
NM_020435.4(GJC2):c.412C>A (p.Pro138Thr)
NM_020435.4(GJC2):c.426C>T (p.Gly142=) rs2124966330
NM_020435.4(GJC2):c.436_462del (p.Pro146_Glu154del) rs779077705
NM_020435.4(GJC2):c.452G>T (p.Gly151Val)
NM_020435.4(GJC2):c.454GAG[5] (p.Glu157_Glu158del) rs746050475
NM_020435.4(GJC2):c.454GAG[6] (p.Glu158del) rs746050475
NM_020435.4(GJC2):c.454GAG[8] (p.Glu158dup) rs746050475
NM_020435.4(GJC2):c.466_467delinsAT (p.Glu156Met) rs1571907790
NM_020435.4(GJC2):c.476C>T (p.Thr159Met) rs756868228
NM_020435.4(GJC2):c.484G>A (p.Ala162Thr)
NM_020435.4(GJC2):c.496G>A (p.Gly166Ser)
NM_020435.4(GJC2):c.498C>T (p.Gly166=) rs2124966406
NM_020435.4(GJC2):c.506C>T (p.Ala169Val)
NM_020435.4(GJC2):c.516_530dup (p.Gly173_Ala177dup) rs1159773438
NM_020435.4(GJC2):c.530C>T (p.Ala177Val)
NM_020435.4(GJC2):c.539A>G (p.Lys180Arg) rs2124966466
NM_020435.4(GJC2):c.545_565dup (p.Val182_Ala188dup) rs1553262516
NM_020435.4(GJC2):c.556G>A (p.Gly186Ser)
NM_020435.4(GJC2):c.577G>T (p.Gly193Cys)
NM_020435.4(GJC2):c.584C>T (p.Thr195Ile)
NM_020435.4(GJC2):c.601C>T (p.Arg201Trp)
NM_020435.4(GJC2):c.608G>A (p.Arg203His)
NM_020435.4(GJC2):c.637T>A (p.Tyr213Asn)
NM_020435.4(GJC2):c.641T>C (p.Val214Ala)
NM_020435.4(GJC2):c.644C>T (p.Ala215Val)
NM_020435.4(GJC2):c.649_651del (p.Leu217del)
NM_020435.4(GJC2):c.653T>C (p.Val218Ala) rs1571908001
NM_020435.4(GJC2):c.658A>G (p.Arg220Gly) rs2124966578
NM_020435.4(GJC2):c.661G>C (p.Ala221Pro) rs767296387
NM_020435.4(GJC2):c.661G>T (p.Ala221Ser) rs767296387
NM_020435.4(GJC2):c.704A>G (p.Tyr235Cys)
NM_020435.4(GJC2):c.716T>C (p.Val239Ala)
NM_020435.4(GJC2):c.721C>T (p.Pro241Ser)
NM_020435.4(GJC2):c.740G>A (p.Arg247His) rs1057523988
NM_020435.4(GJC2):c.740G>C (p.Arg247Pro) rs1057523988
NM_020435.4(GJC2):c.751C>G (p.Pro251Ala)
NM_020435.4(GJC2):c.752C>T (p.Pro251Leu) rs2034720620
NM_020435.4(GJC2):c.765C>G (p.Asp255Glu)
NM_020435.4(GJC2):c.766T>C (p.Cys256Arg)
NM_020435.4(GJC2):c.782C>G (p.Pro261Arg)
NM_020435.4(GJC2):c.784A>C (p.Thr262Pro)
NM_020435.4(GJC2):c.817G>C (p.Val273Leu) rs374172867
NM_020435.4(GJC2):c.830T>C (p.Leu277Pro)
NM_020435.4(GJC2):c.845A>G (p.Asn282Ser) rs1553262560
NM_020435.4(GJC2):c.898G>A (p.Gly300Ser)
NM_020435.4(GJC2):c.902G>C (p.Arg301Pro)
NM_020435.4(GJC2):c.902_910dup (p.Gly303_Pro304insArgArgGly)
NM_020435.4(GJC2):c.914dup (p.Ala306fs)
NM_020435.4(GJC2):c.915G>A (p.Pro305=) rs2034723914
NM_020435.4(GJC2):c.923C>T (p.Ala308Val)
NM_020435.4(GJC2):c.924CCCCGC[3] (p.Pro313_Arg314insAlaPro)
NM_020435.4(GJC2):c.947C>A (p.Pro316Gln)
NM_020435.4(GJC2):c.968C>T (p.Ala323Val)
NM_020435.4(GJC2):c.997T>G (p.Tyr333Asp) rs2124966916
NM_020944.3(GBA2):c.1026G>A (p.Thr342=)
NM_020944.3(GBA2):c.1108G>A (p.Gly370Arg) rs1826595849
NM_020944.3(GBA2):c.1130-14T>A
NM_020944.3(GBA2):c.1202G>A (p.Arg401Gln)
NM_020944.3(GBA2):c.1213C>T (p.Arg405Cys)
NM_020944.3(GBA2):c.1317T>G (p.Asp439Glu)
NM_020944.3(GBA2):c.1345C>A (p.Leu449Met)
NM_020944.3(GBA2):c.1394C>T (p.Pro465Leu)
NM_020944.3(GBA2):c.1420G>C (p.Ala474Pro)
NM_020944.3(GBA2):c.1553G>A (p.Arg518Gln)
NM_020944.3(GBA2):c.1703G>A (p.Arg568Lys) rs1451500934
NM_020944.3(GBA2):c.1768G>A (p.Val590Ile)
NM_020944.3(GBA2):c.1789G>T (p.Asp597Tyr)
NM_020944.3(GBA2):c.17C>A (p.Pro6Gln) rs1025071865
NM_020944.3(GBA2):c.1882G>C (p.Val628Leu) rs371925764
NM_020944.3(GBA2):c.1939G>A (p.Val647Met) rs1563957812
NM_020944.3(GBA2):c.1947+4A>T rs781668874
NM_020944.3(GBA2):c.19G>A (p.Gly7Arg)
NM_020944.3(GBA2):c.2055-3C>A
NM_020944.3(GBA2):c.2099T>C (p.Val700Ala) rs989227836
NM_020944.3(GBA2):c.2135A>G (p.Gln712Arg)
NM_020944.3(GBA2):c.2159G>T (p.Ser720Ile)
NM_020944.3(GBA2):c.2240G>A (p.Arg747His)
NM_020944.3(GBA2):c.2540G>A (p.Gly847Asp) rs138519801
NM_020944.3(GBA2):c.260G>T (p.Arg87Leu) rs776095931
NM_020944.3(GBA2):c.2675A>T (p.Gln892Leu)
NM_020944.3(GBA2):c.2683C>G (p.His895Asp) rs1588001323
NM_020944.3(GBA2):c.2735G>A (p.Gly912Glu)
NM_020944.3(GBA2):c.2777C>T (p.Pro926Leu)
NM_020944.3(GBA2):c.323T>C (p.Leu108Pro)
NM_020944.3(GBA2):c.331A>G (p.Met111Val)
NM_020944.3(GBA2):c.331A>T (p.Met111Leu)
NM_020944.3(GBA2):c.406C>A (p.Pro136Thr) rs767302670
NM_020944.3(GBA2):c.496T>C (p.Trp166Arg)
NM_020944.3(GBA2):c.514C>T (p.Arg172Cys) rs749351473
NM_020944.3(GBA2):c.559G>A (p.Ala187Thr)
NM_020944.3(GBA2):c.617T>C (p.Leu206Pro) rs1160145071
NM_020944.3(GBA2):c.629G>A (p.Arg210His)
NM_020944.3(GBA2):c.648C>A (p.Ser216Arg) rs781642238
NM_020944.3(GBA2):c.823G>A (p.Val275Met) rs762754270
NM_020944.3(GBA2):c.841G>A (p.Glu281Lys)
NM_020944.3(GBA2):c.867C>G (p.Phe289Leu) rs147741018
NM_020944.3(GBA2):c.873G>A (p.Met291Ile)
NM_020944.3(GBA2):c.958C>T (p.Arg320Trp)
NM_024306.5(FA2H):c.1028A>G (p.His343Arg) rs995971156
NM_024306.5(FA2H):c.1036T>G (p.Ser346Ala) rs2144601409
NM_024306.5(FA2H):c.1084C>T (p.Leu362Phe) rs2144598918
NM_024306.5(FA2H):c.1101_1102del (p.His368fs) rs1961640625
NM_024306.5(FA2H):c.113G>A (p.Ser38Asn) rs2144672586
NM_024306.5(FA2H):c.126C>A (p.His42Gln)
NM_024306.5(FA2H):c.139G>A (p.Glu47Lys) rs1057518032
NM_024306.5(FA2H):c.173T>C (p.Ile58Thr) rs990027087
NM_024306.5(FA2H):c.176G>C (p.Ser59Thr) rs2144672449
NM_024306.5(FA2H):c.17C>T (p.Pro6Leu) rs1018191043
NM_024306.5(FA2H):c.190G>C (p.Gly64Arg) rs1410690526
NM_024306.5(FA2H):c.205C>T (p.His69Tyr) rs1057519235
NM_024306.5(FA2H):c.244G>C (p.Val82Leu)
NM_024306.5(FA2H):c.268C>G (p.Gln90Glu) rs2144672216
NM_024306.5(FA2H):c.317C>G (p.Thr106Arg)
NM_024306.5(FA2H):c.319G>A (p.Asp107Asn) rs1962260707
NM_024306.5(FA2H):c.325G>T (p.Ala109Ser)
NM_024306.5(FA2H):c.347T>A (p.Val116Glu)
NM_024306.5(FA2H):c.363+3A>G
NM_024306.5(FA2H):c.363+5C>A
NM_024306.5(FA2H):c.364-3C>T rs1961983397
NM_024306.5(FA2H):c.38C>T (p.Pro13Leu)
NM_024306.5(FA2H):c.401T>G (p.Val134Gly) rs199659429
NM_024306.5(FA2H):c.426_428del (p.Asp142del) rs1961980881
NM_024306.5(FA2H):c.448A>G (p.Thr150Ala)
NM_024306.5(FA2H):c.461G>A (p.Arg154His) rs1204169977
NM_024306.5(FA2H):c.461G>T (p.Arg154Leu) rs1204169977
NM_024306.5(FA2H):c.50A>G (p.Gln17Arg) rs1597577820
NM_024306.5(FA2H):c.589C>G (p.Arg197Gly) rs1463651673
NM_024306.5(FA2H):c.632C>T (p.Pro211Leu) rs1344911374
NM_024306.5(FA2H):c.646C>G (p.Pro216Ala) rs1961775069
NM_024306.5(FA2H):c.662T>G (p.Leu221Arg)
NM_024306.5(FA2H):c.682C>T (p.Leu228Phe)
NM_024306.5(FA2H):c.685_687del (p.Ile229del) rs1567633884
NM_024306.5(FA2H):c.709C>G (p.Leu237Val)
NM_024306.5(FA2H):c.75_77del (p.Cys25del) rs878855082
NM_024306.5(FA2H):c.776A>G (p.Gln259Arg)
NM_024306.5(FA2H):c.77G>C (p.Trp26Ser)
NM_024306.5(FA2H):c.790C>T (p.Pro264Ser)
NM_024306.5(FA2H):c.791C>T (p.Pro264Leu)
NM_024306.5(FA2H):c.810G>A (p.Leu270=) rs1961706796
NM_024306.5(FA2H):c.820C>A (p.Pro274Thr)
NM_024306.5(FA2H):c.820C>G (p.Pro274Ala)
NM_024306.5(FA2H):c.82C>T (p.Arg28Cys) rs775172785
NM_024306.5(FA2H):c.83G>A (p.Arg28His) rs1962976476
NM_024306.5(FA2H):c.867G>C (p.Gln289His)
NM_024306.5(FA2H):c.893G>A (p.Gly298Asp) rs573835278
NM_024306.5(FA2H):c.939G>T (p.Met313Ile)
NM_024306.5(FA2H):c.941_945del (p.Thr314fs) rs1961700181
NM_024306.5(FA2H):c.970C>T (p.His324Tyr)
NM_024306.5(FA2H):c.977G>T (p.Gly326Val)
NM_183075.3(CYP2U1):c.1004G>A (p.Ser335Asn) rs142944337
NM_183075.3(CYP2U1):c.107C>A (p.Ala36Glu) rs1351893573
NM_183075.3(CYP2U1):c.1148A>G (p.Glu383Gly)
NM_183075.3(CYP2U1):c.1150A>G (p.Arg384Gly)
NM_183075.3(CYP2U1):c.1156A>G (p.Ile386Val)
NM_183075.3(CYP2U1):c.1169G>A (p.Arg390Gln)
NM_183075.3(CYP2U1):c.1174C>A (p.Pro392Thr)
NM_183075.3(CYP2U1):c.1184C>T (p.Thr395Ile)
NM_183075.3(CYP2U1):c.11C>T (p.Pro4Leu)
NM_183075.3(CYP2U1):c.1207A>C (p.Thr403Pro)
NM_183075.3(CYP2U1):c.1224G>A (p.Met408Ile) rs1290682250
NM_183075.3(CYP2U1):c.1258G>A (p.Ala420Thr) rs778851531
NM_183075.3(CYP2U1):c.1264C>G (p.Pro422Ala) rs1733742814
NM_183075.3(CYP2U1):c.1270A>G (p.Met424Val)
NM_183075.3(CYP2U1):c.127G>C (p.Val43Leu) rs1031064765
NM_183075.3(CYP2U1):c.128T>C (p.Val43Ala)
NM_183075.3(CYP2U1):c.1301A>G (p.Tyr434Cys)
NM_183075.3(CYP2U1):c.143G>T (p.Trp48Leu)
NM_183075.3(CYP2U1):c.1450G>A (p.Gly484Arg)
NM_183075.3(CYP2U1):c.1466T>C (p.Val489Ala)
NM_183075.3(CYP2U1):c.1473G>A (p.Met491Ile)
NM_183075.3(CYP2U1):c.1493T>C (p.Met498Thr)
NM_183075.3(CYP2U1):c.1517del (p.Ser506fs)
NM_183075.3(CYP2U1):c.1524G>T (p.Met508Ile)
NM_183075.3(CYP2U1):c.1527G>C (p.Gln509His) rs2126203368
NM_183075.3(CYP2U1):c.154C>T (p.Arg52Trp) rs1732990193
NM_183075.3(CYP2U1):c.155G>C (p.Arg52Pro)
NM_183075.3(CYP2U1):c.1567C>T (p.Leu523Phe)
NM_183075.3(CYP2U1):c.1585G>T (p.Gly529Cys) rs1578736266
NM_183075.3(CYP2U1):c.1616T>A (p.Ile539Lys)
NM_183075.3(CYP2U1):c.213C>G (p.Asn71Lys) rs2126188271
NM_183075.3(CYP2U1):c.235C>T (p.Pro79Ser)
NM_183075.3(CYP2U1):c.244C>T (p.Arg82Trp) rs1476927058
NM_183075.3(CYP2U1):c.281C>T (p.Ala94Val)
NM_183075.3(CYP2U1):c.305G>T (p.Gly102Val) rs2126188410
NM_183075.3(CYP2U1):c.313G>A (p.Val105Met)
NM_183075.3(CYP2U1):c.31_42dup (p.Ala11_Pro14dup) rs1026306428
NM_183075.3(CYP2U1):c.340T>A (p.Tyr114Asn) rs1733005836
NM_183075.3(CYP2U1):c.367_375del (p.Gly123_Tyr125del) rs2126188525
NM_183075.3(CYP2U1):c.392_393delinsTT (p.Ser131Ile)
NM_183075.3(CYP2U1):c.412G>A (p.Glu138Lys)
NM_183075.3(CYP2U1):c.461C>T (p.Pro154Leu)
NM_183075.3(CYP2U1):c.464T>C (p.Leu155Pro)
NM_183075.3(CYP2U1):c.488A>G (p.Lys163Arg)
NM_183075.3(CYP2U1):c.489G>A (p.Lys163=)
NM_183075.3(CYP2U1):c.503C>T (p.Ala168Val)
NM_183075.3(CYP2U1):c.544C>G (p.His182Asp)
NM_183075.3(CYP2U1):c.551C>A (p.Thr184Asn)
NM_183075.3(CYP2U1):c.640G>A (p.Gly214Arg) rs539068584
NM_183075.3(CYP2U1):c.64C>T (p.Arg22Cys)
NM_183075.3(CYP2U1):c.682G>A (p.Val228Ile)
NM_183075.3(CYP2U1):c.701C>T (p.Ser234Phe) rs1370303971
NM_183075.3(CYP2U1):c.718C>T (p.Arg240Cys)
NM_183075.3(CYP2U1):c.734A>G (p.Asn245Ser)
NM_183075.3(CYP2U1):c.74T>C (p.Leu25Pro)
NM_183075.3(CYP2U1):c.767C>T (p.Ser256Leu) rs377203075
NM_183075.3(CYP2U1):c.770G>A (p.Arg257Gln)
NM_183075.3(CYP2U1):c.784T>G (p.Cys262Gly)
NM_183075.3(CYP2U1):c.869T>A (p.Ile290Asn) rs761095930
NM_183075.3(CYP2U1):c.890T>C (p.Phe297Ser) rs1578728816
NM_183075.3(CYP2U1):c.899A>C (p.Lys300Thr)
NM_183075.3(CYP2U1):c.904A>T (p.Ile302Phe)
NM_183075.3(CYP2U1):c.923C>G (p.Ser308Cys)
NM_183075.3(CYP2U1):c.940C>T (p.Pro314Ser)
NM_183075.3(CYP2U1):c.950T>A (p.Phe317Tyr) rs1733663700
NM_183075.3(CYP2U1):c.953T>C (p.Ile318Thr)
NM_183075.3(CYP2U1):c.956A>T (p.Asp319Val)
NM_183075.3(CYP2U1):c.958A>G (p.Met320Val)
NM_183075.3(CYP2U1):c.95C>T (p.Pro32Leu) rs2126188056
NM_183075.3(CYP2U1):c.976G>A (p.Glu326Lys)
NM_183075.3(CYP2U1):c.98G>T (p.Ser33Ile)
Single allele

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