Chr Mutation (hg38) CAid Gene Transcript Linkouts
15g.100048894G>ACA393692360ADAMTS17c.2554C>T (p.Gln852Ter)
c.2635C>T (p.Gln879Ter)
c.2704C>T (p.Gln902Ter)
c.2836C>T (p.Gln946Ter)
c.2767C>T (p.Gln923Ter)
c.2107C>T (p.Gln703Ter)
c.1738C>T (p.Gln580Ter)
c.1516C>T (p.Gln506Ter)
c.1225C>T (p.Gln409Ter)
c.1009C>T (p.Gln337Ter)
15g.100048894G>CCA393692362ADAMTS17c.2554C>G (p.Gln852Glu)
c.2635C>G (p.Gln879Glu)
c.2704C>G (p.Gln902Glu)
c.2836C>G (p.Gln946Glu)
c.2767C>G (p.Gln923Glu)
c.2107C>G (p.Gln703Glu)
c.1738C>G (p.Gln580Glu)
c.1516C>G (p.Gln506Glu)
c.1225C>G (p.Gln409Glu)
c.1009C>G (p.Gln337Glu)
15g.100048894G>TCA393692363ADAMTS17c.2554C>A (p.Gln852Lys)
c.2635C>A (p.Gln879Lys)
c.2704C>A (p.Gln902Lys)
c.2836C>A (p.Gln946Lys)
c.2767C>A (p.Gln923Lys)
c.2107C>A (p.Gln703Lys)
c.1738C>A (p.Gln580Lys)
c.1516C>A (p.Gln506Lys)
c.1225C>A (p.Gln409Lys)
c.1009C>A (p.Gln337Lys)
15g.100048895G>ACA492369930ADAMTS17c.2553C>T (p.Pro851=)
c.2634C>T (p.Pro878=)
c.2703C>T (p.Pro901=)
c.2835C>T (p.Pro945=)
c.2766C>T (p.Pro922=)
c.2106C>T (p.Pro702=)
c.1737C>T (p.Pro579=)
c.1515C>T (p.Pro505=)
c.1224C>T (p.Pro408=)
c.1008C>T (p.Pro336=)
15g.100048895G>CCA492369931ADAMTS17c.2553C>G (p.Pro851=)
c.2634C>G (p.Pro878=)
c.2703C>G (p.Pro901=)
c.2835C>G (p.Pro945=)
c.2766C>G (p.Pro922=)
c.2106C>G (p.Pro702=)
c.1737C>G (p.Pro579=)
c.1515C>G (p.Pro505=)
c.1224C>G (p.Pro408=)
c.1008C>G (p.Pro336=)
15g.100048895G>TCA492369932ADAMTS17c.2553C>A (p.Pro851=)
c.2634C>A (p.Pro878=)
c.2703C>A (p.Pro901=)
c.2835C>A (p.Pro945=)
c.2766C>A (p.Pro922=)
c.2106C>A (p.Pro702=)
c.1737C>A (p.Pro579=)
c.1515C>A (p.Pro505=)
c.1224C>A (p.Pro408=)
c.1008C>A (p.Pro336=)
15g.100048896G>ACA393692369ADAMTS17c.2552C>T (p.Pro851Leu)
c.2633C>T (p.Pro878Leu)
c.2702C>T (p.Pro901Leu)
c.2834C>T (p.Pro945Leu)
c.2765C>T (p.Pro922Leu)
c.2105C>T (p.Pro702Leu)
c.1736C>T (p.Pro579Leu)
c.1514C>T (p.Pro505Leu)
c.1223C>T (p.Pro408Leu)
c.1007C>T (p.Pro336Leu)
15g.100048896G>CCA393692367ADAMTS17c.2552C>G (p.Pro851Arg)
c.2633C>G (p.Pro878Arg)
c.2702C>G (p.Pro901Arg)
c.2834C>G (p.Pro945Arg)
c.2765C>G (p.Pro922Arg)
c.2105C>G (p.Pro702Arg)
c.1736C>G (p.Pro579Arg)
c.1514C>G (p.Pro505Arg)
c.1223C>G (p.Pro408Arg)
c.1007C>G (p.Pro336Arg)
15g.100048896G>TCA393692365ADAMTS17c.2552C>A (p.Pro851His)
c.2633C>A (p.Pro878His)
c.2702C>A (p.Pro901His)
c.2834C>A (p.Pro945His)
c.2765C>A (p.Pro922His)
c.2105C>A (p.Pro702His)
c.1736C>A (p.Pro579His)
c.1514C>A (p.Pro505His)
c.1223C>A (p.Pro408His)
c.1007C>A (p.Pro336His)
15g.100048897G>ACA275472960ADAMTS17c.2551C>T (p.Pro851Ser)
c.2632C>T (p.Pro878Ser)
c.2701C>T (p.Pro901Ser)
c.2833C>T (p.Pro945Ser)
c.2764C>T (p.Pro922Ser)
c.2104C>T (p.Pro702Ser)
c.1735C>T (p.Pro579Ser)
c.1513C>T (p.Pro505Ser)
c.1222C>T (p.Pro408Ser)
c.1006C>T (p.Pro336Ser)
 dbSNP
15g.100048897G>CCA393692372ADAMTS17c.2551C>G (p.Pro851Ala)
c.2632C>G (p.Pro878Ala)
c.2701C>G (p.Pro901Ala)
c.2833C>G (p.Pro945Ala)
c.2764C>G (p.Pro922Ala)
c.2104C>G (p.Pro702Ala)
c.1735C>G (p.Pro579Ala)
c.1513C>G (p.Pro505Ala)
c.1222C>G (p.Pro408Ala)
c.1006C>G (p.Pro336Ala)
15g.100048897G=CA2199825576ADAMTS17c.2551C= (p.Pro851=)
c.2632C= (p.Pro878=)
c.2701C= (p.Pro901=)
c.2833C= (p.Pro945=)
c.2764C= (p.Pro922=)
c.2104C= (p.Pro702=)
c.1735C= (p.Pro579=)
c.1513C= (p.Pro505=)
c.1222C= (p.Pro408=)
c.1006C= (p.Pro336=)
15g.100048897G>TCA393692375ADAMTS17c.2551C>A (p.Pro851Thr)
c.2632C>A (p.Pro878Thr)
c.2701C>A (p.Pro901Thr)
c.2833C>A (p.Pro945Thr)
c.2764C>A (p.Pro922Thr)
c.2104C>A (p.Pro702Thr)
c.1735C>A (p.Pro579Thr)
c.1513C>A (p.Pro505Thr)
c.1222C>A (p.Pro408Thr)
c.1006C>A (p.Pro336Thr)
15g.100048898C>ACA393692377ADAMTS17c.2550G>T (p.Glu850Asp)
c.2631G>T (p.Glu877Asp)
c.2700G>T (p.Glu900Asp)
c.2832G>T (p.Glu944Asp)
c.2763G>T (p.Glu921Asp)
c.2103G>T (p.Glu701Asp)
c.1734G>T (p.Glu578Asp)
c.1512G>T (p.Glu504Asp)
c.1221G>T (p.Glu407Asp)
c.1005G>T (p.Glu335Asp)
15g.100048898C>GCA393692379ADAMTS17c.2550G>C (p.Glu850Asp)
c.2631G>C (p.Glu877Asp)
c.2700G>C (p.Glu900Asp)
c.2832G>C (p.Glu944Asp)
c.2763G>C (p.Glu921Asp)
c.2103G>C (p.Glu701Asp)
c.1734G>C (p.Glu578Asp)
c.1512G>C (p.Glu504Asp)
c.1221G>C (p.Glu407Asp)
c.1005G>C (p.Glu335Asp)
15g.100048898C>TCA492369933ADAMTS17c.2550G>A (p.Glu850=)
c.2631G>A (p.Glu877=)
c.2700G>A (p.Glu900=)
c.2832G>A (p.Glu944=)
c.2763G>A (p.Glu921=)
c.2103G>A (p.Glu701=)
c.1734G>A (p.Glu578=)
c.1512G>A (p.Glu504=)
c.1221G>A (p.Glu407=)
c.1005G>A (p.Glu335=)
15g.100048899T>ACA393692381ADAMTS17c.2549A>T (p.Glu850Val)
c.2630A>T (p.Glu877Val)
c.2699A>T (p.Glu900Val)
c.2831A>T (p.Glu944Val)
c.2762A>T (p.Glu921Val)
c.2102A>T (p.Glu701Val)
c.1733A>T (p.Glu578Val)
c.1511A>T (p.Glu504Val)
c.1220A>T (p.Glu407Val)
c.1004A>T (p.Glu335Val)
15g.100048899T>CCA393692382ADAMTS17c.2549A>G (p.Glu850Gly)
c.2630A>G (p.Glu877Gly)
c.2699A>G (p.Glu900Gly)
c.2831A>G (p.Glu944Gly)
c.2762A>G (p.Glu921Gly)
c.2102A>G (p.Glu701Gly)
c.1733A>G (p.Glu578Gly)
c.1511A>G (p.Glu504Gly)
c.1220A>G (p.Glu407Gly)
c.1004A>G (p.Glu335Gly)
15g.100048899T>GCA393692384ADAMTS17c.2549A>C (p.Glu850Ala)
c.2630A>C (p.Glu877Ala)
c.2699A>C (p.Glu900Ala)
c.2831A>C (p.Glu944Ala)
c.2762A>C (p.Glu921Ala)
c.2102A>C (p.Glu701Ala)
c.1733A>C (p.Glu578Ala)
c.1511A>C (p.Glu504Ala)
c.1220A>C (p.Glu407Ala)
c.1004A>C (p.Glu335Ala)
15g.100048900C>ACA393692391ADAMTS17c.2548G>T (p.Glu850Ter)
c.2629G>T (p.Glu877Ter)
c.2698G>T (p.Glu900Ter)
c.2830G>T (p.Glu944Ter)
c.2761G>T (p.Glu921Ter)
c.2101G>T (p.Glu701Ter)
c.1732G>T (p.Glu578Ter)
c.1510G>T (p.Glu504Ter)
c.1219G>T (p.Glu407Ter)
c.1003G>T (p.Glu335Ter)
15g.100048900C=CA2199825577ADAMTS17c.2548G= (p.Glu850=)
c.2629G= (p.Glu877=)
c.2698G= (p.Glu900=)
c.2830G= (p.Glu944=)
c.2761G= (p.Glu921=)
c.2101G= (p.Glu701=)
c.1732G= (p.Glu578=)
c.1510G= (p.Glu504=)
c.1219G= (p.Glu407=)
c.1003G= (p.Glu335=)
15g.100048900C>GCA393692393ADAMTS17c.2548G>C (p.Glu850Gln)
c.2629G>C (p.Glu877Gln)
c.2698G>C (p.Glu900Gln)
c.2830G>C (p.Glu944Gln)
c.2761G>C (p.Glu921Gln)
c.2101G>C (p.Glu701Gln)
c.1732G>C (p.Glu578Gln)
c.1510G>C (p.Glu504Gln)
c.1219G>C (p.Glu407Gln)
c.1003G>C (p.Glu335Gln)
15g.100048900C>TCA393692395ADAMTS17c.2548G>A (p.Glu850Lys)
c.2629G>A (p.Glu877Lys)
c.2698G>A (p.Glu900Lys)
c.2830G>A (p.Glu944Lys)
c.2761G>A (p.Glu921Lys)
c.2101G>A (p.Glu701Lys)
c.1732G>A (p.Glu578Lys)
c.1510G>A (p.Glu504Lys)
c.1219G>A (p.Glu407Lys)
c.1003G>A (p.Glu335Lys)
 dbSNP
15g.100048901T>ACA492369934ADAMTS17c.2547A>T (p.Pro849=)
c.2628A>T (p.Pro876=)
c.2697A>T (p.Pro899=)
c.2829A>T (p.Pro943=)
c.2760A>T (p.Pro920=)
c.2100A>T (p.Pro700=)
c.1731A>T (p.Pro577=)
c.1509A>T (p.Pro503=)
c.1218A>T (p.Pro406=)
c.1002A>T (p.Pro334=)
15g.100048901T>CCA492369936ADAMTS17c.2547A>G (p.Pro849=)
c.2628A>G (p.Pro876=)
c.2697A>G (p.Pro899=)
c.2829A>G (p.Pro943=)
c.2760A>G (p.Pro920=)
c.2100A>G (p.Pro700=)
c.1731A>G (p.Pro577=)
c.1509A>G (p.Pro503=)
c.1218A>G (p.Pro406=)
c.1002A>G (p.Pro334=)
15g.100048901T>GCA492369937ADAMTS17c.2547A>C (p.Pro849=)
c.2628A>C (p.Pro876=)
c.2697A>C (p.Pro899=)
c.2829A>C (p.Pro943=)
c.2760A>C (p.Pro920=)
c.2100A>C (p.Pro700=)
c.1731A>C (p.Pro577=)
c.1509A>C (p.Pro503=)
c.1218A>C (p.Pro406=)
c.1002A>C (p.Pro334=)
15g.100048902G>ACA393692398ADAMTS17c.2546C>T (p.Pro849Leu)
c.2627C>T (p.Pro876Leu)
c.2696C>T (p.Pro899Leu)
c.2828C>T (p.Pro943Leu)
c.2759C>T (p.Pro920Leu)
c.2099C>T (p.Pro700Leu)
c.1730C>T (p.Pro577Leu)
c.1508C>T (p.Pro503Leu)
c.1217C>T (p.Pro406Leu)
c.1001C>T (p.Pro334Leu)
15g.100048902G>CCA393692399ADAMTS17c.2546C>G (p.Pro849Arg)
c.2627C>G (p.Pro876Arg)
c.2696C>G (p.Pro899Arg)
c.2828C>G (p.Pro943Arg)
c.2759C>G (p.Pro920Arg)
c.2099C>G (p.Pro700Arg)
c.1730C>G (p.Pro577Arg)
c.1508C>G (p.Pro503Arg)
c.1217C>G (p.Pro406Arg)
c.1001C>G (p.Pro334Arg)
15g.100048902G>TCA393692400ADAMTS17c.2546C>A (p.Pro849Gln)
c.2627C>A (p.Pro876Gln)
c.2696C>A (p.Pro899Gln)
c.2828C>A (p.Pro943Gln)
c.2759C>A (p.Pro920Gln)
c.2099C>A (p.Pro700Gln)
c.1730C>A (p.Pro577Gln)
c.1508C>A (p.Pro503Gln)
c.1217C>A (p.Pro406Gln)
c.1001C>A (p.Pro334Gln)
15g.100048903G>ACA393692407ADAMTS17c.2545C>T (p.Pro849Ser)
c.2626C>T (p.Pro876Ser)
c.2695C>T (p.Pro899Ser)
c.2827C>T (p.Pro943Ser)
c.2758C>T (p.Pro920Ser)
c.2098C>T (p.Pro700Ser)
c.1729C>T (p.Pro577Ser)
c.1507C>T (p.Pro503Ser)
c.1216C>T (p.Pro406Ser)
c.1000C>T (p.Pro334Ser)
15g.100048903G>CCA393692405ADAMTS17c.2545C>G (p.Pro849Ala)
c.2626C>G (p.Pro876Ala)
c.2695C>G (p.Pro899Ala)
c.2827C>G (p.Pro943Ala)
c.2758C>G (p.Pro920Ala)
c.2098C>G (p.Pro700Ala)
c.1729C>G (p.Pro577Ala)
c.1507C>G (p.Pro503Ala)
c.1216C>G (p.Pro406Ala)
c.1000C>G (p.Pro334Ala)
15g.100048903G>TCA393692403ADAMTS17c.2545C>A (p.Pro849Thr)
c.2626C>A (p.Pro876Thr)
c.2695C>A (p.Pro899Thr)
c.2827C>A (p.Pro943Thr)
c.2758C>A (p.Pro920Thr)
c.2098C>A (p.Pro700Thr)
c.1729C>A (p.Pro577Thr)
c.1507C>A (p.Pro503Thr)
c.1216C>A (p.Pro406Thr)
c.1000C>A (p.Pro334Thr)
15g.100048904G>ACA492369938ADAMTS17c.2544C>T (p.Arg848=)
c.2625C>T (p.Arg875=)
c.2694C>T (p.Arg898=)
c.2826C>T (p.Arg942=)
c.2757C>T (p.Arg919=)
c.2097C>T (p.Arg699=)
c.1728C>T (p.Arg576=)
c.1506C>T (p.Arg502=)
c.1215C>T (p.Arg405=)
c.999C>T (p.Arg333=)
 dbSNP gnomAD v4
15g.100048904G>CCA492369940ADAMTS17c.2544C>G (p.Arg848=)
c.2625C>G (p.Arg875=)
c.2694C>G (p.Arg898=)
c.2826C>G (p.Arg942=)
c.2757C>G (p.Arg919=)
c.2097C>G (p.Arg699=)
c.1728C>G (p.Arg576=)
c.1506C>G (p.Arg502=)
c.1215C>G (p.Arg405=)
c.999C>G (p.Arg333=)
15g.100048904G=CA2199825578ADAMTS17c.2544C= (p.Arg848=)
c.2625C= (p.Arg875=)
c.2694C= (p.Arg898=)
c.2826C= (p.Arg942=)
c.2757C= (p.Arg919=)
c.2097C= (p.Arg699=)
c.1728C= (p.Arg576=)
c.1506C= (p.Arg502=)
c.1215C= (p.Arg405=)
c.999C= (p.Arg333=)
15g.100048904G>TCA492369939ADAMTS17c.2544C>A (p.Arg848=)
c.2625C>A (p.Arg875=)
c.2694C>A (p.Arg898=)
c.2826C>A (p.Arg942=)
c.2757C>A (p.Arg919=)
c.2097C>A (p.Arg699=)
c.1728C>A (p.Arg576=)
c.1506C>A (p.Arg502=)
c.1215C>A (p.Arg405=)
c.999C>A (p.Arg333=)
 dbSNP gnomAD v3 gnomAD v4
15g.100048905C>ACA393692409ADAMTS17c.2543G>T (p.Arg848Leu)
c.2624G>T (p.Arg875Leu)
c.2693G>T (p.Arg898Leu)
c.2825G>T (p.Arg942Leu)
c.2756G>T (p.Arg919Leu)
c.2096G>T (p.Arg699Leu)
c.1727G>T (p.Arg576Leu)
c.1505G>T (p.Arg502Leu)
c.1214G>T (p.Arg405Leu)
c.998G>T (p.Arg333Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
15g.100048905C=CA2199825579ADAMTS17c.2543G= (p.Arg848=)
c.2624G= (p.Arg875=)
c.2693G= (p.Arg898=)
c.2825G= (p.Arg942=)
c.2756G= (p.Arg919=)
c.2096G= (p.Arg699=)
c.1727G= (p.Arg576=)
c.1505G= (p.Arg502=)
c.1214G= (p.Arg405=)
c.998G= (p.Arg333=)
15g.100048905C>GCA393692410ADAMTS17c.2543G>C (p.Arg848Pro)
c.2624G>C (p.Arg875Pro)
c.2693G>C (p.Arg898Pro)
c.2825G>C (p.Arg942Pro)
c.2756G>C (p.Arg919Pro)
c.2096G>C (p.Arg699Pro)
c.1727G>C (p.Arg576Pro)
c.1505G>C (p.Arg502Pro)
c.1214G>C (p.Arg405Pro)
c.998G>C (p.Arg333Pro)
 gnomAD v4
15g.100048905C>TCA7757688ADAMTS17c.2543G>A (p.Arg848His)
c.2624G>A (p.Arg875His)
c.2693G>A (p.Arg898His)
c.2825G>A (p.Arg942His)
c.2756G>A (p.Arg919His)
c.2096G>A (p.Arg699His)
c.1727G>A (p.Arg576His)
c.1505G>A (p.Arg502His)
c.1214G>A (p.Arg405His)
c.998G>A (p.Arg333His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.100048906G>ACA7757689ADAMTS17c.2542C>T (p.Arg848Cys)
c.2623C>T (p.Arg875Cys)
c.2692C>T (p.Arg898Cys)
c.2824C>T (p.Arg942Cys)
c.2755C>T (p.Arg919Cys)
c.2095C>T (p.Arg699Cys)
c.1726C>T (p.Arg576Cys)
c.1504C>T (p.Arg502Cys)
c.1213C>T (p.Arg405Cys)
c.997C>T (p.Arg333Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
15g.100048906G>CCA393692413ADAMTS17c.2542C>G (p.Arg848Gly)
c.2623C>G (p.Arg875Gly)
c.2692C>G (p.Arg898Gly)
c.2824C>G (p.Arg942Gly)
c.2755C>G (p.Arg919Gly)
c.2095C>G (p.Arg699Gly)
c.1726C>G (p.Arg576Gly)
c.1504C>G (p.Arg502Gly)
c.1213C>G (p.Arg405Gly)
c.997C>G (p.Arg333Gly)
 gnomAD v4
15g.100048906G=CA2199825580ADAMTS17c.2542C= (p.Arg848=)
c.2623C= (p.Arg875=)
c.2692C= (p.Arg898=)
c.2824C= (p.Arg942=)
c.2755C= (p.Arg919=)
c.2095C= (p.Arg699=)
c.1726C= (p.Arg576=)
c.1504C= (p.Arg502=)
c.1213C= (p.Arg405=)
c.997C= (p.Arg333=)
15g.100048906G>TCA393692414ADAMTS17c.2542C>A (p.Arg848Ser)
c.2623C>A (p.Arg875Ser)
c.2692C>A (p.Arg898Ser)
c.2824C>A (p.Arg942Ser)
c.2755C>A (p.Arg919Ser)
c.2095C>A (p.Arg699Ser)
c.1726C>A (p.Arg576Ser)
c.1504C>A (p.Arg502Ser)
c.1213C>A (p.Arg405Ser)
c.997C>A (p.Arg333Ser)
15g.100048907G>ACA492369941ADAMTS17c.2541C>T (p.Ser847=)
c.2622C>T (p.Ser874=)
c.2691C>T (p.Ser897=)
c.2823C>T (p.Ser941=)
c.2754C>T (p.Ser918=)
c.2094C>T (p.Ser698=)
c.1725C>T (p.Ser575=)
c.1503C>T (p.Ser501=)
c.1212C>T (p.Ser404=)
c.996C>T (p.Ser332=)
15g.100048907G>CCA393692417ADAMTS17c.2541C>G (p.Ser847Arg)
c.2622C>G (p.Ser874Arg)
c.2691C>G (p.Ser897Arg)
c.2823C>G (p.Ser941Arg)
c.2754C>G (p.Ser918Arg)
c.2094C>G (p.Ser698Arg)
c.1725C>G (p.Ser575Arg)
c.1503C>G (p.Ser501Arg)
c.1212C>G (p.Ser404Arg)
c.996C>G (p.Ser332Arg)
15g.100048907G>TCA393692419ADAMTS17c.2541C>A (p.Ser847Arg)
c.2622C>A (p.Ser874Arg)
c.2691C>A (p.Ser897Arg)
c.2823C>A (p.Ser941Arg)
c.2754C>A (p.Ser918Arg)
c.2094C>A (p.Ser698Arg)
c.1725C>A (p.Ser575Arg)
c.1503C>A (p.Ser501Arg)
c.1212C>A (p.Ser404Arg)
c.996C>A (p.Ser332Arg)
15g.100048908C>ACA393692421ADAMTS17c.2540G>T (p.Ser847Ile)
c.2621G>T (p.Ser874Ile)
c.2690G>T (p.Ser897Ile)
c.2822G>T (p.Ser941Ile)
c.2753G>T (p.Ser918Ile)
c.2093G>T (p.Ser698Ile)
c.1724G>T (p.Ser575Ile)
c.1502G>T (p.Ser501Ile)
c.1211G>T (p.Ser404Ile)
c.995G>T (p.Ser332Ile)
15g.100048908C>GCA393692423ADAMTS17c.2540G>C (p.Ser847Thr)
c.2621G>C (p.Ser874Thr)
c.2690G>C (p.Ser897Thr)
c.2822G>C (p.Ser941Thr)
c.2753G>C (p.Ser918Thr)
c.2093G>C (p.Ser698Thr)
c.1724G>C (p.Ser575Thr)
c.1502G>C (p.Ser501Thr)
c.1211G>C (p.Ser404Thr)
c.995G>C (p.Ser332Thr)
15g.100048908C>TCA393692425ADAMTS17c.2540G>A (p.Ser847Asn)
c.2621G>A (p.Ser874Asn)
c.2690G>A (p.Ser897Asn)
c.2822G>A (p.Ser941Asn)
c.2753G>A (p.Ser918Asn)
c.2093G>A (p.Ser698Asn)
c.1724G>A (p.Ser575Asn)
c.1502G>A (p.Ser501Asn)
c.1211G>A (p.Ser404Asn)
c.995G>A (p.Ser332Asn)

Number of alleles fetched