Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.113367764C>A | CA145030 | ANK2 | c.11372C>A (p.Thr3791Asn) c.5057C>A (p.Thr1686Asn) c.1658C>A (p.Thr553Asn) c.2156C>A (p.Thr719Asn) n.2613C>A n.1821C>A n.2565C>A n.1394C>A n.3356C>A n.1337C>A n.1730C>A n.8076C>A n.2702C>A n.686C>A n.3120C>A n.1335C>A c.11231C>A (p.Thr3744Asn) c.11069C>A (p.Thr3690Asn) c.2363C>A (p.Thr788Asn) c.686C>A (p.Thr229Asn) c.4790C>A (p.Thr1597Asn) c.4877C>A (p.Thr1626Asn) c.4814C>A (p.Thr1605Asn) c.5012C>A (p.Thr1671Asn) c.4913C>A (p.Thr1638Asn) c.11105C>A (p.Thr3702Asn) c.4715C>A (p.Thr1572Asn) c.*469C>A (n.*469C>A) c.11048C>A (p.Thr3683Asn) c.4592C>A (p.Thr1531Asn) c.11045C>A (p.Thr3682Asn) c.4691C>A (p.Thr1564Asn) c.11276C>A (p.Thr3759Asn) c.4826C>A (p.Thr1609Asn) c.4811C>A (p.Thr1604Asn) c.11312C>A (p.Thr3771Asn) c.4799C>A (p.Thr1600Asn) c.11033C>A (p.Thr3678Asn) c.4751C>A (p.Thr1584Asn) c.4949C>A (p.Thr1650Asn) c.2540C>A (p.Thr847Asn) c.11132C>A (p.Thr3711Asn) c.5021C>A (p.Thr1674Asn) c.11168C>A (p.Thr3723Asn) c.4778C>A (p.Thr1593Asn) c.10970C>A (p.Thr3657Asn) c.4850C>A (p.Thr1617Asn) c.4394C>A (p.Thr1465Asn) c.2525C>A (p.Thr842Asn) c.10946C>A (p.Thr3649Asn) c.2504C>A (p.Thr835Asn) c.11177C>A (p.Thr3726Asn) c.4742C>A (p.Thr1581Asn) c.4484C>A (p.Thr1495Asn) c.11006C>A (p.Thr3669Asn) c.4976C>A (p.Thr1659Asn) c.2261C>A (p.Thr754Asn) c.932C>A (p.Thr311Asn) c.1980C>A c.*2592C>A (n.*2592C>A) c.11264C>A (p.Thr3755Asn) c.4973C>A (p.Thr1658Asn) c.11318C>A (p.Thr3773Asn) c.11282C>A (p.Thr3761Asn) c.5030C>A (p.Thr1677Asn) c.5063C>A (p.Thr1688Asn) c.4994C>A (p.Thr1665Asn) c.11258C>A (p.Thr3753Asn) c.11303C>A (p.Thr3768Asn) c.4988C>A (p.Thr1663Asn) c.4955C>A (p.Thr1652Asn) c.5018C>A (p.Thr1673Asn) c.4874C>A (p.Thr1625Asn) c.5054C>A (p.Thr1685Asn) c.4946C>A (p.Thr1649Asn) c.4910C>A (p.Thr1637Asn) c.4925C>A (p.Thr1642Asn) c.4835C>A (p.Thr1612Asn) c.4763C>A (p.Thr1588Asn) c.4847C>A (p.Thr1616Asn) c.4676C>A (p.Thr1559Asn) c.11348C>A (p.Thr3783Asn) c.11234C>A (p.Thr3745Asn) c.11204C>A (p.Thr3735Asn) c.11267C>A (p.Thr3756Asn) c.10997C>A (p.Thr3666Asn) c.4757C>A (p.Thr1586Asn) c.4802C>A (p.Thr1601Asn) c.4961C>A (p.Thr1654Asn) c.5033C>A (p.Thr1678Asn) c.4493C>A (p.Thr1498Asn) c.4820C>A (p.Thr1607Asn) c.7631C>A (p.Thr2544Asn) c.1376C>A (p.Thr459Asn) c.4841C>A (p.Thr1614Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.113367764C>G | CA357942245 | ANK2 | c.11372C>G (p.Thr3791Ser) c.5057C>G (p.Thr1686Ser) c.1658C>G (p.Thr553Ser) c.2156C>G (p.Thr719Ser) n.2613C>G n.1821C>G n.2565C>G n.1394C>G n.3356C>G n.1337C>G n.1730C>G n.8076C>G n.2702C>G n.686C>G n.3120C>G n.1335C>G c.11231C>G (p.Thr3744Ser) c.11069C>G (p.Thr3690Ser) c.2363C>G (p.Thr788Ser) c.686C>G (p.Thr229Ser) c.4790C>G (p.Thr1597Ser) c.4877C>G (p.Thr1626Ser) c.4814C>G (p.Thr1605Ser) c.5012C>G (p.Thr1671Ser) c.4913C>G (p.Thr1638Ser) c.11105C>G (p.Thr3702Ser) c.4715C>G (p.Thr1572Ser) c.*469C>G (n.*469C>G) c.11048C>G (p.Thr3683Ser) c.4592C>G (p.Thr1531Ser) c.11045C>G (p.Thr3682Ser) c.4691C>G (p.Thr1564Ser) c.11276C>G (p.Thr3759Ser) c.4826C>G (p.Thr1609Ser) c.4811C>G (p.Thr1604Ser) c.11312C>G (p.Thr3771Ser) c.4799C>G (p.Thr1600Ser) c.11033C>G (p.Thr3678Ser) c.4751C>G (p.Thr1584Ser) c.4949C>G (p.Thr1650Ser) c.2540C>G (p.Thr847Ser) c.11132C>G (p.Thr3711Ser) c.5021C>G (p.Thr1674Ser) c.11168C>G (p.Thr3723Ser) c.4778C>G (p.Thr1593Ser) c.10970C>G (p.Thr3657Ser) c.4850C>G (p.Thr1617Ser) c.4394C>G (p.Thr1465Ser) c.2525C>G (p.Thr842Ser) c.10946C>G (p.Thr3649Ser) c.2504C>G (p.Thr835Ser) c.11177C>G (p.Thr3726Ser) c.4742C>G (p.Thr1581Ser) c.4484C>G (p.Thr1495Ser) c.11006C>G (p.Thr3669Ser) c.4976C>G (p.Thr1659Ser) c.2261C>G (p.Thr754Ser) c.932C>G (p.Thr311Ser) c.1980C>G c.*2592C>G (n.*2592C>G) c.11264C>G (p.Thr3755Ser) c.4973C>G (p.Thr1658Ser) c.11318C>G (p.Thr3773Ser) c.11282C>G (p.Thr3761Ser) c.5030C>G (p.Thr1677Ser) c.5063C>G (p.Thr1688Ser) c.4994C>G (p.Thr1665Ser) c.11258C>G (p.Thr3753Ser) c.11303C>G (p.Thr3768Ser) c.4988C>G (p.Thr1663Ser) c.4955C>G (p.Thr1652Ser) c.5018C>G (p.Thr1673Ser) c.4874C>G (p.Thr1625Ser) c.5054C>G (p.Thr1685Ser) c.4946C>G (p.Thr1649Ser) c.4910C>G (p.Thr1637Ser) c.4925C>G (p.Thr1642Ser) c.4835C>G (p.Thr1612Ser) c.4763C>G (p.Thr1588Ser) c.4847C>G (p.Thr1616Ser) c.4676C>G (p.Thr1559Ser) c.11348C>G (p.Thr3783Ser) c.11234C>G (p.Thr3745Ser) c.11204C>G (p.Thr3735Ser) c.11267C>G (p.Thr3756Ser) c.10997C>G (p.Thr3666Ser) c.4757C>G (p.Thr1586Ser) c.4802C>G (p.Thr1601Ser) c.4961C>G (p.Thr1654Ser) c.5033C>G (p.Thr1678Ser) c.4493C>G (p.Thr1498Ser) c.4820C>G (p.Thr1607Ser) c.7631C>G (p.Thr2544Ser) c.1376C>G (p.Thr459Ser) c.4841C>G (p.Thr1614Ser) | dbSNP |
4 | g.113367764C= | CA3111552477 | ANK2 | c.11372C= (p.Thr3791=) c.5057C= (p.Thr1686=) c.1658C= (p.Thr553=) c.2156C= (p.Thr719=) n.2613C= n.1821C= n.2565C= n.1394C= n.3356C= n.1337C= n.1730C= n.8076C= n.2702C= n.686C= n.3120C= n.1335C= c.11231C= (p.Thr3744=) c.11069C= (p.Thr3690=) c.2363C= (p.Thr788=) c.686C= (p.Thr229=) c.4790C= (p.Thr1597=) c.4877C= (p.Thr1626=) c.4814C= (p.Thr1605=) c.5012C= (p.Thr1671=) c.4913C= (p.Thr1638=) c.11105C= (p.Thr3702=) c.4715C= (p.Thr1572=) c.*469C= (n.*469C=) c.11048C= (p.Thr3683=) c.4592C= (p.Thr1531=) c.11045C= (p.Thr3682=) c.4691C= (p.Thr1564=) c.11276C= (p.Thr3759=) c.4826C= (p.Thr1609=) c.4811C= (p.Thr1604=) c.11312C= (p.Thr3771=) c.4799C= (p.Thr1600=) c.11033C= (p.Thr3678=) c.4751C= (p.Thr1584=) c.4949C= (p.Thr1650=) c.2540C= (p.Thr847=) c.11132C= (p.Thr3711=) c.5021C= (p.Thr1674=) c.11168C= (p.Thr3723=) c.4778C= (p.Thr1593=) c.10970C= (p.Thr3657=) c.4850C= (p.Thr1617=) c.4394C= (p.Thr1465=) c.2525C= (p.Thr842=) c.10946C= (p.Thr3649=) c.2504C= (p.Thr835=) c.11177C= (p.Thr3726=) c.4742C= (p.Thr1581=) c.4484C= (p.Thr1495=) c.11006C= (p.Thr3669=) c.4976C= (p.Thr1659=) c.2261C= (p.Thr754=) c.932C= (p.Thr311=) c.1980C= c.*2592C= (n.*2592C=) c.11264C= (p.Thr3755=) c.4973C= (p.Thr1658=) c.11318C= (p.Thr3773=) c.11282C= (p.Thr3761=) c.5030C= (p.Thr1677=) c.5063C= (p.Thr1688=) c.4994C= (p.Thr1665=) c.11258C= (p.Thr3753=) c.11303C= (p.Thr3768=) c.4988C= (p.Thr1663=) c.4955C= (p.Thr1652=) c.5018C= (p.Thr1673=) c.4874C= (p.Thr1625=) c.5054C= (p.Thr1685=) c.4946C= (p.Thr1649=) c.4910C= (p.Thr1637=) c.4925C= (p.Thr1642=) c.4835C= (p.Thr1612=) c.4763C= (p.Thr1588=) c.4847C= (p.Thr1616=) c.4676C= (p.Thr1559=) c.11348C= (p.Thr3783=) c.11234C= (p.Thr3745=) c.11204C= (p.Thr3735=) c.11267C= (p.Thr3756=) c.10997C= (p.Thr3666=) c.4757C= (p.Thr1586=) c.4802C= (p.Thr1601=) c.4961C= (p.Thr1654=) c.5033C= (p.Thr1678=) c.4493C= (p.Thr1498=) c.4820C= (p.Thr1607=) c.7631C= (p.Thr2544=) c.1376C= (p.Thr459=) c.4841C= (p.Thr1614=) | dbSNP |