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) | |
4 | g.113367764C>T | CA357942246 | ANK2 | c.11372C>T (p.Thr3791Ile) c.5057C>T (p.Thr1686Ile) c.1658C>T (p.Thr553Ile) c.2156C>T (p.Thr719Ile) n.2613C>T n.1821C>T n.2565C>T n.1394C>T n.3356C>T n.1337C>T n.1730C>T n.8076C>T n.2702C>T n.686C>T n.3120C>T n.1335C>T c.11231C>T (p.Thr3744Ile) c.11069C>T (p.Thr3690Ile) c.2363C>T (p.Thr788Ile) c.686C>T (p.Thr229Ile) c.4790C>T (p.Thr1597Ile) c.4877C>T (p.Thr1626Ile) c.4814C>T (p.Thr1605Ile) c.5012C>T (p.Thr1671Ile) c.4913C>T (p.Thr1638Ile) c.11105C>T (p.Thr3702Ile) c.4715C>T (p.Thr1572Ile) c.*469C>T (n.*469C>T) c.11048C>T (p.Thr3683Ile) c.4592C>T (p.Thr1531Ile) c.11045C>T (p.Thr3682Ile) c.4691C>T (p.Thr1564Ile) c.11276C>T (p.Thr3759Ile) c.4826C>T (p.Thr1609Ile) c.4811C>T (p.Thr1604Ile) c.11312C>T (p.Thr3771Ile) c.4799C>T (p.Thr1600Ile) c.11033C>T (p.Thr3678Ile) c.4751C>T (p.Thr1584Ile) c.4949C>T (p.Thr1650Ile) c.2540C>T (p.Thr847Ile) c.11132C>T (p.Thr3711Ile) c.5021C>T (p.Thr1674Ile) c.11168C>T (p.Thr3723Ile) c.4778C>T (p.Thr1593Ile) c.10970C>T (p.Thr3657Ile) c.4850C>T (p.Thr1617Ile) c.4394C>T (p.Thr1465Ile) c.2525C>T (p.Thr842Ile) c.10946C>T (p.Thr3649Ile) c.2504C>T (p.Thr835Ile) c.11177C>T (p.Thr3726Ile) c.4742C>T (p.Thr1581Ile) c.4484C>T (p.Thr1495Ile) c.11006C>T (p.Thr3669Ile) c.4976C>T (p.Thr1659Ile) c.2261C>T (p.Thr754Ile) c.932C>T (p.Thr311Ile) c.1980C>T c.*2592C>T (n.*2592C>T) c.11264C>T (p.Thr3755Ile) c.4973C>T (p.Thr1658Ile) c.11318C>T (p.Thr3773Ile) c.11282C>T (p.Thr3761Ile) c.5030C>T (p.Thr1677Ile) c.5063C>T (p.Thr1688Ile) c.4994C>T (p.Thr1665Ile) c.11258C>T (p.Thr3753Ile) c.11303C>T (p.Thr3768Ile) c.4988C>T (p.Thr1663Ile) c.4955C>T (p.Thr1652Ile) c.5018C>T (p.Thr1673Ile) c.4874C>T (p.Thr1625Ile) c.5054C>T (p.Thr1685Ile) c.4946C>T (p.Thr1649Ile) c.4910C>T (p.Thr1637Ile) c.4925C>T (p.Thr1642Ile) c.4835C>T (p.Thr1612Ile) c.4763C>T (p.Thr1588Ile) c.4847C>T (p.Thr1616Ile) c.4676C>T (p.Thr1559Ile) c.11348C>T (p.Thr3783Ile) c.11234C>T (p.Thr3745Ile) c.11204C>T (p.Thr3735Ile) c.11267C>T (p.Thr3756Ile) c.10997C>T (p.Thr3666Ile) c.4757C>T (p.Thr1586Ile) c.4802C>T (p.Thr1601Ile) c.4961C>T (p.Thr1654Ile) c.5033C>T (p.Thr1678Ile) c.4493C>T (p.Thr1498Ile) c.4820C>T (p.Thr1607Ile) c.7631C>T (p.Thr2544Ile) c.1376C>T (p.Thr459Ile) c.4841C>T (p.Thr1614Ile) | |
4 | g.113367765T>A | CA440833194 | ANK2 | c.11373T>A (p.Thr3791=) c.5058T>A (p.Thr1686=) c.1659T>A (p.Thr553=) c.2157T>A (p.Thr719=) n.2614T>A n.1822T>A n.2566T>A n.1395T>A n.3357T>A n.1338T>A n.1731T>A n.8077T>A n.2703T>A n.687T>A n.3121T>A n.1336T>A c.11232T>A (p.Thr3744=) c.11070T>A (p.Thr3690=) c.2364T>A (p.Thr788=) c.687T>A (p.Thr229=) c.4791T>A (p.Thr1597=) c.4878T>A (p.Thr1626=) c.4815T>A (p.Thr1605=) c.5013T>A (p.Thr1671=) c.4914T>A (p.Thr1638=) c.11106T>A (p.Thr3702=) c.4716T>A (p.Thr1572=) c.*470T>A (n.*470T>A) c.11049T>A (p.Thr3683=) c.4593T>A (p.Thr1531=) c.11046T>A (p.Thr3682=) c.4692T>A (p.Thr1564=) c.11277T>A (p.Thr3759=) c.4827T>A (p.Thr1609=) c.4812T>A (p.Thr1604=) c.11313T>A (p.Thr3771=) c.4800T>A (p.Thr1600=) c.11034T>A (p.Thr3678=) c.4752T>A (p.Thr1584=) c.4950T>A (p.Thr1650=) c.2541T>A (p.Thr847=) c.11133T>A (p.Thr3711=) c.5022T>A (p.Thr1674=) c.11169T>A (p.Thr3723=) c.4779T>A (p.Thr1593=) c.10971T>A (p.Thr3657=) c.4851T>A (p.Thr1617=) c.4395T>A (p.Thr1465=) c.2526T>A (p.Thr842=) c.10947T>A (p.Thr3649=) c.2505T>A (p.Thr835=) c.11178T>A (p.Thr3726=) c.4743T>A (p.Thr1581=) c.4485T>A (p.Thr1495=) c.11007T>A (p.Thr3669=) c.4977T>A (p.Thr1659=) c.2262T>A (p.Thr754=) c.933T>A (p.Thr311=) c.1981T>A c.*2593T>A (n.*2593T>A) c.11265T>A (p.Thr3755=) c.4974T>A (p.Thr1658=) c.11319T>A (p.Thr3773=) c.11283T>A (p.Thr3761=) c.5031T>A (p.Thr1677=) c.5064T>A (p.Thr1688=) c.4995T>A (p.Thr1665=) c.11259T>A (p.Thr3753=) c.11304T>A (p.Thr3768=) c.4989T>A (p.Thr1663=) c.4956T>A (p.Thr1652=) c.5019T>A (p.Thr1673=) c.4875T>A (p.Thr1625=) c.5055T>A (p.Thr1685=) c.4947T>A (p.Thr1649=) c.4911T>A (p.Thr1637=) c.4926T>A (p.Thr1642=) c.4836T>A (p.Thr1612=) c.4764T>A (p.Thr1588=) c.4848T>A (p.Thr1616=) c.4677T>A (p.Thr1559=) c.11349T>A (p.Thr3783=) c.11235T>A (p.Thr3745=) c.11205T>A (p.Thr3735=) c.11268T>A (p.Thr3756=) c.10998T>A (p.Thr3666=) c.4758T>A (p.Thr1586=) c.4803T>A (p.Thr1601=) c.4962T>A (p.Thr1654=) c.5034T>A (p.Thr1678=) c.4494T>A (p.Thr1498=) c.4821T>A (p.Thr1607=) c.7632T>A (p.Thr2544=) c.1377T>A (p.Thr459=) c.4842T>A (p.Thr1614=) | gnomAD v4 |
4 | g.113367765T>C | CA440833195 | ANK2 | c.11373T>C (p.Thr3791=) c.5058T>C (p.Thr1686=) c.1659T>C (p.Thr553=) c.2157T>C (p.Thr719=) n.2614T>C n.1822T>C n.2566T>C n.1395T>C n.3357T>C n.1338T>C n.1731T>C n.8077T>C n.2703T>C n.687T>C n.3121T>C n.1336T>C c.11232T>C (p.Thr3744=) c.11070T>C (p.Thr3690=) c.2364T>C (p.Thr788=) c.687T>C (p.Thr229=) c.4791T>C (p.Thr1597=) c.4878T>C (p.Thr1626=) c.4815T>C (p.Thr1605=) c.5013T>C (p.Thr1671=) c.4914T>C (p.Thr1638=) c.11106T>C (p.Thr3702=) c.4716T>C (p.Thr1572=) c.*470T>C (n.*470T>C) c.11049T>C (p.Thr3683=) c.4593T>C (p.Thr1531=) c.11046T>C (p.Thr3682=) c.4692T>C (p.Thr1564=) c.11277T>C (p.Thr3759=) c.4827T>C (p.Thr1609=) c.4812T>C (p.Thr1604=) c.11313T>C (p.Thr3771=) c.4800T>C (p.Thr1600=) c.11034T>C (p.Thr3678=) c.4752T>C (p.Thr1584=) c.4950T>C (p.Thr1650=) c.2541T>C (p.Thr847=) c.11133T>C (p.Thr3711=) c.5022T>C (p.Thr1674=) c.11169T>C (p.Thr3723=) c.4779T>C (p.Thr1593=) c.10971T>C (p.Thr3657=) c.4851T>C (p.Thr1617=) c.4395T>C (p.Thr1465=) c.2526T>C (p.Thr842=) c.10947T>C (p.Thr3649=) c.2505T>C (p.Thr835=) c.11178T>C (p.Thr3726=) c.4743T>C (p.Thr1581=) c.4485T>C (p.Thr1495=) c.11007T>C (p.Thr3669=) c.4977T>C (p.Thr1659=) c.2262T>C (p.Thr754=) c.933T>C (p.Thr311=) c.1981T>C c.*2593T>C (n.*2593T>C) c.11265T>C (p.Thr3755=) c.4974T>C (p.Thr1658=) c.11319T>C (p.Thr3773=) c.11283T>C (p.Thr3761=) c.5031T>C (p.Thr1677=) c.5064T>C (p.Thr1688=) c.4995T>C (p.Thr1665=) c.11259T>C (p.Thr3753=) c.11304T>C (p.Thr3768=) c.4989T>C (p.Thr1663=) c.4956T>C (p.Thr1652=) c.5019T>C (p.Thr1673=) c.4875T>C (p.Thr1625=) c.5055T>C (p.Thr1685=) c.4947T>C (p.Thr1649=) c.4911T>C (p.Thr1637=) c.4926T>C (p.Thr1642=) c.4836T>C (p.Thr1612=) c.4764T>C (p.Thr1588=) c.4848T>C (p.Thr1616=) c.4677T>C (p.Thr1559=) c.11349T>C (p.Thr3783=) c.11235T>C (p.Thr3745=) c.11205T>C (p.Thr3735=) c.11268T>C (p.Thr3756=) c.10998T>C (p.Thr3666=) c.4758T>C (p.Thr1586=) c.4803T>C (p.Thr1601=) c.4962T>C (p.Thr1654=) c.5034T>C (p.Thr1678=) c.4494T>C (p.Thr1498=) c.4821T>C (p.Thr1607=) c.7632T>C (p.Thr2544=) c.1377T>C (p.Thr459=) c.4842T>C (p.Thr1614=) | gnomAD v4 |
4 | g.113367765T>G | CA440833197 | ANK2 | c.11373T>G (p.Thr3791=) c.5058T>G (p.Thr1686=) c.1659T>G (p.Thr553=) c.2157T>G (p.Thr719=) n.2614T>G n.1822T>G n.2566T>G n.1395T>G n.3357T>G n.1338T>G n.1731T>G n.8077T>G n.2703T>G n.687T>G n.3121T>G n.1336T>G c.11232T>G (p.Thr3744=) c.11070T>G (p.Thr3690=) c.2364T>G (p.Thr788=) c.687T>G (p.Thr229=) c.4791T>G (p.Thr1597=) c.4878T>G (p.Thr1626=) c.4815T>G (p.Thr1605=) c.5013T>G (p.Thr1671=) c.4914T>G (p.Thr1638=) c.11106T>G (p.Thr3702=) c.4716T>G (p.Thr1572=) c.*470T>G (n.*470T>G) c.11049T>G (p.Thr3683=) c.4593T>G (p.Thr1531=) c.11046T>G (p.Thr3682=) c.4692T>G (p.Thr1564=) c.11277T>G (p.Thr3759=) c.4827T>G (p.Thr1609=) c.4812T>G (p.Thr1604=) c.11313T>G (p.Thr3771=) c.4800T>G (p.Thr1600=) c.11034T>G (p.Thr3678=) c.4752T>G (p.Thr1584=) c.4950T>G (p.Thr1650=) c.2541T>G (p.Thr847=) c.11133T>G (p.Thr3711=) c.5022T>G (p.Thr1674=) c.11169T>G (p.Thr3723=) c.4779T>G (p.Thr1593=) c.10971T>G (p.Thr3657=) c.4851T>G (p.Thr1617=) c.4395T>G (p.Thr1465=) c.2526T>G (p.Thr842=) c.10947T>G (p.Thr3649=) c.2505T>G (p.Thr835=) c.11178T>G (p.Thr3726=) c.4743T>G (p.Thr1581=) c.4485T>G (p.Thr1495=) c.11007T>G (p.Thr3669=) c.4977T>G (p.Thr1659=) c.2262T>G (p.Thr754=) c.933T>G (p.Thr311=) c.1981T>G c.*2593T>G (n.*2593T>G) c.11265T>G (p.Thr3755=) c.4974T>G (p.Thr1658=) c.11319T>G (p.Thr3773=) c.11283T>G (p.Thr3761=) c.5031T>G (p.Thr1677=) c.5064T>G (p.Thr1688=) c.4995T>G (p.Thr1665=) c.11259T>G (p.Thr3753=) c.11304T>G (p.Thr3768=) c.4989T>G (p.Thr1663=) c.4956T>G (p.Thr1652=) c.5019T>G (p.Thr1673=) c.4875T>G (p.Thr1625=) c.5055T>G (p.Thr1685=) c.4947T>G (p.Thr1649=) c.4911T>G (p.Thr1637=) c.4926T>G (p.Thr1642=) c.4836T>G (p.Thr1612=) c.4764T>G (p.Thr1588=) c.4848T>G (p.Thr1616=) c.4677T>G (p.Thr1559=) c.11349T>G (p.Thr3783=) c.11235T>G (p.Thr3745=) c.11205T>G (p.Thr3735=) c.11268T>G (p.Thr3756=) c.10998T>G (p.Thr3666=) c.4758T>G (p.Thr1586=) c.4803T>G (p.Thr1601=) c.4962T>G (p.Thr1654=) c.5034T>G (p.Thr1678=) c.4494T>G (p.Thr1498=) c.4821T>G (p.Thr1607=) c.7632T>G (p.Thr2544=) c.1377T>G (p.Thr459=) c.4842T>G (p.Thr1614=) | gnomAD v4 |
4 | g.113367766C>A | CA357942248 | ANK2 | c.11374C>A (p.His3792Asn) c.5059C>A (p.His1687Asn) c.1660C>A (p.His554Asn) c.2158C>A (p.His720Asn) n.2615C>A n.1823C>A n.2567C>A n.1396C>A n.3358C>A n.1339C>A n.1732C>A n.8078C>A n.2704C>A n.688C>A n.3122C>A n.1337C>A c.11233C>A (p.His3745Asn) c.11071C>A (p.His3691Asn) c.2365C>A (p.His789Asn) c.688C>A (p.His230Asn) c.4792C>A (p.His1598Asn) c.4879C>A (p.His1627Asn) c.4816C>A (p.His1606Asn) c.5014C>A (p.His1672Asn) c.4915C>A (p.His1639Asn) c.11107C>A (p.His3703Asn) c.4717C>A (p.His1573Asn) c.*471C>A (n.*471C>A) c.11050C>A (p.His3684Asn) c.4594C>A (p.His1532Asn) c.11047C>A (p.His3683Asn) c.4693C>A (p.His1565Asn) c.11278C>A (p.His3760Asn) c.4828C>A (p.His1610Asn) c.4813C>A (p.His1605Asn) c.11314C>A (p.His3772Asn) c.4801C>A (p.His1601Asn) c.11035C>A (p.His3679Asn) c.4753C>A (p.His1585Asn) c.4951C>A (p.His1651Asn) c.2542C>A (p.His848Asn) c.11134C>A (p.His3712Asn) c.5023C>A (p.His1675Asn) c.11170C>A (p.His3724Asn) c.4780C>A (p.His1594Asn) c.10972C>A (p.His3658Asn) c.4852C>A (p.His1618Asn) c.4396C>A (p.His1466Asn) c.2527C>A (p.His843Asn) c.10948C>A (p.His3650Asn) c.2506C>A (p.His836Asn) c.11179C>A (p.His3727Asn) c.4744C>A (p.His1582Asn) c.4486C>A (p.His1496Asn) c.11008C>A (p.His3670Asn) c.4978C>A (p.His1660Asn) c.2263C>A (p.His755Asn) c.934C>A (p.His312Asn) c.1982C>A c.*2594C>A (n.*2594C>A) c.11266C>A (p.His3756Asn) c.4975C>A (p.His1659Asn) c.11320C>A (p.His3774Asn) c.11284C>A (p.His3762Asn) c.5032C>A (p.His1678Asn) c.5065C>A (p.His1689Asn) c.4996C>A (p.His1666Asn) c.11260C>A (p.His3754Asn) c.11305C>A (p.His3769Asn) c.4990C>A (p.His1664Asn) c.4957C>A (p.His1653Asn) c.5020C>A (p.His1674Asn) c.4876C>A (p.His1626Asn) c.5056C>A (p.His1686Asn) c.4948C>A (p.His1650Asn) c.4912C>A (p.His1638Asn) c.4927C>A (p.His1643Asn) c.4837C>A (p.His1613Asn) c.4765C>A (p.His1589Asn) c.4849C>A (p.His1617Asn) c.4678C>A (p.His1560Asn) c.11350C>A (p.His3784Asn) c.11236C>A (p.His3746Asn) c.11206C>A (p.His3736Asn) c.11269C>A (p.His3757Asn) c.10999C>A (p.His3667Asn) c.4759C>A (p.His1587Asn) c.4804C>A (p.His1602Asn) c.4963C>A (p.His1655Asn) c.5035C>A (p.His1679Asn) c.4495C>A (p.His1499Asn) c.4822C>A (p.His1608Asn) c.7633C>A (p.His2545Asn) c.1378C>A (p.His460Asn) c.4843C>A (p.His1615Asn) | |
4 | g.113367766C>G | CA357942249 | ANK2 | c.11374C>G (p.His3792Asp) c.5059C>G (p.His1687Asp) c.1660C>G (p.His554Asp) c.2158C>G (p.His720Asp) n.2615C>G n.1823C>G n.2567C>G n.1396C>G n.3358C>G n.1339C>G n.1732C>G n.8078C>G n.2704C>G n.688C>G n.3122C>G n.1337C>G c.11233C>G (p.His3745Asp) c.11071C>G (p.His3691Asp) c.2365C>G (p.His789Asp) c.688C>G (p.His230Asp) c.4792C>G (p.His1598Asp) c.4879C>G (p.His1627Asp) c.4816C>G (p.His1606Asp) c.5014C>G (p.His1672Asp) c.4915C>G (p.His1639Asp) c.11107C>G (p.His3703Asp) c.4717C>G (p.His1573Asp) c.*471C>G (n.*471C>G) c.11050C>G (p.His3684Asp) c.4594C>G (p.His1532Asp) c.11047C>G (p.His3683Asp) c.4693C>G (p.His1565Asp) c.11278C>G (p.His3760Asp) c.4828C>G (p.His1610Asp) c.4813C>G (p.His1605Asp) c.11314C>G (p.His3772Asp) c.4801C>G (p.His1601Asp) c.11035C>G (p.His3679Asp) c.4753C>G (p.His1585Asp) c.4951C>G (p.His1651Asp) c.2542C>G (p.His848Asp) c.11134C>G (p.His3712Asp) c.5023C>G (p.His1675Asp) c.11170C>G (p.His3724Asp) c.4780C>G (p.His1594Asp) c.10972C>G (p.His3658Asp) c.4852C>G (p.His1618Asp) c.4396C>G (p.His1466Asp) c.2527C>G (p.His843Asp) c.10948C>G (p.His3650Asp) c.2506C>G (p.His836Asp) c.11179C>G (p.His3727Asp) c.4744C>G (p.His1582Asp) c.4486C>G (p.His1496Asp) c.11008C>G (p.His3670Asp) c.4978C>G (p.His1660Asp) c.2263C>G (p.His755Asp) c.934C>G (p.His312Asp) c.1982C>G c.*2594C>G (n.*2594C>G) c.11266C>G (p.His3756Asp) c.4975C>G (p.His1659Asp) c.11320C>G (p.His3774Asp) c.11284C>G (p.His3762Asp) c.5032C>G (p.His1678Asp) c.5065C>G (p.His1689Asp) c.4996C>G (p.His1666Asp) c.11260C>G (p.His3754Asp) c.11305C>G (p.His3769Asp) c.4990C>G (p.His1664Asp) c.4957C>G (p.His1653Asp) c.5020C>G (p.His1674Asp) c.4876C>G (p.His1626Asp) c.5056C>G (p.His1686Asp) c.4948C>G (p.His1650Asp) c.4912C>G (p.His1638Asp) c.4927C>G (p.His1643Asp) c.4837C>G (p.His1613Asp) c.4765C>G (p.His1589Asp) c.4849C>G (p.His1617Asp) c.4678C>G (p.His1560Asp) c.11350C>G (p.His3784Asp) c.11236C>G (p.His3746Asp) c.11206C>G (p.His3736Asp) c.11269C>G (p.His3757Asp) c.10999C>G (p.His3667Asp) c.4759C>G (p.His1587Asp) c.4804C>G (p.His1602Asp) c.4963C>G (p.His1655Asp) c.5035C>G (p.His1679Asp) c.4495C>G (p.His1499Asp) c.4822C>G (p.His1608Asp) c.7633C>G (p.His2545Asp) c.1378C>G (p.His460Asp) c.4843C>G (p.His1615Asp) | |
4 | g.113367766C>T | CA357942247 | ANK2 | c.11374C>T (p.His3792Tyr) c.5059C>T (p.His1687Tyr) c.1660C>T (p.His554Tyr) c.2158C>T (p.His720Tyr) n.2615C>T n.1823C>T n.2567C>T n.1396C>T n.3358C>T n.1339C>T n.1732C>T n.8078C>T n.2704C>T n.688C>T n.3122C>T n.1337C>T c.11233C>T (p.His3745Tyr) c.11071C>T (p.His3691Tyr) c.2365C>T (p.His789Tyr) c.688C>T (p.His230Tyr) c.4792C>T (p.His1598Tyr) c.4879C>T (p.His1627Tyr) c.4816C>T (p.His1606Tyr) c.5014C>T (p.His1672Tyr) c.4915C>T (p.His1639Tyr) c.11107C>T (p.His3703Tyr) c.4717C>T (p.His1573Tyr) c.*471C>T (n.*471C>T) c.11050C>T (p.His3684Tyr) c.4594C>T (p.His1532Tyr) c.11047C>T (p.His3683Tyr) c.4693C>T (p.His1565Tyr) c.11278C>T (p.His3760Tyr) c.4828C>T (p.His1610Tyr) c.4813C>T (p.His1605Tyr) c.11314C>T (p.His3772Tyr) c.4801C>T (p.His1601Tyr) c.11035C>T (p.His3679Tyr) c.4753C>T (p.His1585Tyr) c.4951C>T (p.His1651Tyr) c.2542C>T (p.His848Tyr) c.11134C>T (p.His3712Tyr) c.5023C>T (p.His1675Tyr) c.11170C>T (p.His3724Tyr) c.4780C>T (p.His1594Tyr) c.10972C>T (p.His3658Tyr) c.4852C>T (p.His1618Tyr) c.4396C>T (p.His1466Tyr) c.2527C>T (p.His843Tyr) c.10948C>T (p.His3650Tyr) c.2506C>T (p.His836Tyr) c.11179C>T (p.His3727Tyr) c.4744C>T (p.His1582Tyr) c.4486C>T (p.His1496Tyr) c.11008C>T (p.His3670Tyr) c.4978C>T (p.His1660Tyr) c.2263C>T (p.His755Tyr) c.934C>T (p.His312Tyr) c.1982C>T c.*2594C>T (n.*2594C>T) c.11266C>T (p.His3756Tyr) c.4975C>T (p.His1659Tyr) c.11320C>T (p.His3774Tyr) c.11284C>T (p.His3762Tyr) c.5032C>T (p.His1678Tyr) c.5065C>T (p.His1689Tyr) c.4996C>T (p.His1666Tyr) c.11260C>T (p.His3754Tyr) c.11305C>T (p.His3769Tyr) c.4990C>T (p.His1664Tyr) c.4957C>T (p.His1653Tyr) c.5020C>T (p.His1674Tyr) c.4876C>T (p.His1626Tyr) c.5056C>T (p.His1686Tyr) c.4948C>T (p.His1650Tyr) c.4912C>T (p.His1638Tyr) c.4927C>T (p.His1643Tyr) c.4837C>T (p.His1613Tyr) c.4765C>T (p.His1589Tyr) c.4849C>T (p.His1617Tyr) c.4678C>T (p.His1560Tyr) c.11350C>T (p.His3784Tyr) c.11236C>T (p.His3746Tyr) c.11206C>T (p.His3736Tyr) c.11269C>T (p.His3757Tyr) c.10999C>T (p.His3667Tyr) c.4759C>T (p.His1587Tyr) c.4804C>T (p.His1602Tyr) c.4963C>T (p.His1655Tyr) c.5035C>T (p.His1679Tyr) c.4495C>T (p.His1499Tyr) c.4822C>T (p.His1608Tyr) c.7633C>T (p.His2545Tyr) c.1378C>T (p.His460Tyr) c.4843C>T (p.His1615Tyr) | gnomAD v4 |
4 | g.113367767A>C | CA357942250 | ANK2 | c.11375A>C (p.His3792Pro) c.5060A>C (p.His1687Pro) c.1661A>C (p.His554Pro) c.2159A>C (p.His720Pro) n.2616A>C n.1824A>C n.2568A>C n.1397A>C n.3359A>C n.1340A>C n.1733A>C n.8079A>C n.2705A>C n.689A>C n.3123A>C n.1338A>C c.11234A>C (p.His3745Pro) c.11072A>C (p.His3691Pro) c.2366A>C (p.His789Pro) c.689A>C (p.His230Pro) c.4793A>C (p.His1598Pro) c.4880A>C (p.His1627Pro) c.4817A>C (p.His1606Pro) c.5015A>C (p.His1672Pro) c.4916A>C (p.His1639Pro) c.11108A>C (p.His3703Pro) c.4718A>C (p.His1573Pro) c.*472A>C (n.*472A>C) c.11051A>C (p.His3684Pro) c.4595A>C (p.His1532Pro) c.11048A>C (p.His3683Pro) c.4694A>C (p.His1565Pro) c.11279A>C (p.His3760Pro) c.4829A>C (p.His1610Pro) c.4814A>C (p.His1605Pro) c.11315A>C (p.His3772Pro) c.4802A>C (p.His1601Pro) c.11036A>C (p.His3679Pro) c.4754A>C (p.His1585Pro) c.4952A>C (p.His1651Pro) c.2543A>C (p.His848Pro) c.11135A>C (p.His3712Pro) c.5024A>C (p.His1675Pro) c.11171A>C (p.His3724Pro) c.4781A>C (p.His1594Pro) c.10973A>C (p.His3658Pro) c.4853A>C (p.His1618Pro) c.4397A>C (p.His1466Pro) c.2528A>C (p.His843Pro) c.10949A>C (p.His3650Pro) c.2507A>C (p.His836Pro) c.11180A>C (p.His3727Pro) c.4745A>C (p.His1582Pro) c.4487A>C (p.His1496Pro) c.11009A>C (p.His3670Pro) c.4979A>C (p.His1660Pro) c.2264A>C (p.His755Pro) c.935A>C (p.His312Pro) c.1983A>C c.*2595A>C (n.*2595A>C) c.11267A>C (p.His3756Pro) c.4976A>C (p.His1659Pro) c.11321A>C (p.His3774Pro) c.11285A>C (p.His3762Pro) c.5033A>C (p.His1678Pro) c.5066A>C (p.His1689Pro) c.4997A>C (p.His1666Pro) c.11261A>C (p.His3754Pro) c.11306A>C (p.His3769Pro) c.4991A>C (p.His1664Pro) c.4958A>C (p.His1653Pro) c.5021A>C (p.His1674Pro) c.4877A>C (p.His1626Pro) c.5057A>C (p.His1686Pro) c.4949A>C (p.His1650Pro) c.4913A>C (p.His1638Pro) c.4928A>C (p.His1643Pro) c.4838A>C (p.His1613Pro) c.4766A>C (p.His1589Pro) c.4850A>C (p.His1617Pro) c.4679A>C (p.His1560Pro) c.11351A>C (p.His3784Pro) c.11237A>C (p.His3746Pro) c.11207A>C (p.His3736Pro) c.11270A>C (p.His3757Pro) c.11000A>C (p.His3667Pro) c.4760A>C (p.His1587Pro) c.4805A>C (p.His1602Pro) c.4964A>C (p.His1655Pro) c.5036A>C (p.His1679Pro) c.4496A>C (p.His1499Pro) c.4823A>C (p.His1608Pro) c.7634A>C (p.His2545Pro) c.1379A>C (p.His460Pro) c.4844A>C (p.His1615Pro) | |
4 | g.113367767A>G | CA357942251 | ANK2 | c.11375A>G (p.His3792Arg) c.5060A>G (p.His1687Arg) c.1661A>G (p.His554Arg) c.2159A>G (p.His720Arg) n.2616A>G n.1824A>G n.2568A>G n.1397A>G n.3359A>G n.1340A>G n.1733A>G n.8079A>G n.2705A>G n.689A>G n.3123A>G n.1338A>G c.11234A>G (p.His3745Arg) c.11072A>G (p.His3691Arg) c.2366A>G (p.His789Arg) c.689A>G (p.His230Arg) c.4793A>G (p.His1598Arg) c.4880A>G (p.His1627Arg) c.4817A>G (p.His1606Arg) c.5015A>G (p.His1672Arg) c.4916A>G (p.His1639Arg) c.11108A>G (p.His3703Arg) c.4718A>G (p.His1573Arg) c.*472A>G (n.*472A>G) c.11051A>G (p.His3684Arg) c.4595A>G (p.His1532Arg) c.11048A>G (p.His3683Arg) c.4694A>G (p.His1565Arg) c.11279A>G (p.His3760Arg) c.4829A>G (p.His1610Arg) c.4814A>G (p.His1605Arg) c.11315A>G (p.His3772Arg) c.4802A>G (p.His1601Arg) c.11036A>G (p.His3679Arg) c.4754A>G (p.His1585Arg) c.4952A>G (p.His1651Arg) c.2543A>G (p.His848Arg) c.11135A>G (p.His3712Arg) c.5024A>G (p.His1675Arg) c.11171A>G (p.His3724Arg) c.4781A>G (p.His1594Arg) c.10973A>G (p.His3658Arg) c.4853A>G (p.His1618Arg) c.4397A>G (p.His1466Arg) c.2528A>G (p.His843Arg) c.10949A>G (p.His3650Arg) c.2507A>G (p.His836Arg) c.11180A>G (p.His3727Arg) c.4745A>G (p.His1582Arg) c.4487A>G (p.His1496Arg) c.11009A>G (p.His3670Arg) c.4979A>G (p.His1660Arg) c.2264A>G (p.His755Arg) c.935A>G (p.His312Arg) c.1983A>G c.*2595A>G (n.*2595A>G) c.11267A>G (p.His3756Arg) c.4976A>G (p.His1659Arg) c.11321A>G (p.His3774Arg) c.11285A>G (p.His3762Arg) c.5033A>G (p.His1678Arg) c.5066A>G (p.His1689Arg) c.4997A>G (p.His1666Arg) c.11261A>G (p.His3754Arg) c.11306A>G (p.His3769Arg) c.4991A>G (p.His1664Arg) c.4958A>G (p.His1653Arg) c.5021A>G (p.His1674Arg) c.4877A>G (p.His1626Arg) c.5057A>G (p.His1686Arg) c.4949A>G (p.His1650Arg) c.4913A>G (p.His1638Arg) c.4928A>G (p.His1643Arg) c.4838A>G (p.His1613Arg) c.4766A>G (p.His1589Arg) c.4850A>G (p.His1617Arg) c.4679A>G (p.His1560Arg) c.11351A>G (p.His3784Arg) c.11237A>G (p.His3746Arg) c.11207A>G (p.His3736Arg) c.11270A>G (p.His3757Arg) c.11000A>G (p.His3667Arg) c.4760A>G (p.His1587Arg) c.4805A>G (p.His1602Arg) c.4964A>G (p.His1655Arg) c.5036A>G (p.His1679Arg) c.4496A>G (p.His1499Arg) c.4823A>G (p.His1608Arg) c.7634A>G (p.His2545Arg) c.1379A>G (p.His460Arg) c.4844A>G (p.His1615Arg) | |
4 | g.113367767A>T | CA357942252 | ANK2 | c.11375A>T (p.His3792Leu) c.5060A>T (p.His1687Leu) c.1661A>T (p.His554Leu) c.2159A>T (p.His720Leu) n.2616A>T n.1824A>T n.2568A>T n.1397A>T n.3359A>T n.1340A>T n.1733A>T n.8079A>T n.2705A>T n.689A>T n.3123A>T n.1338A>T c.11234A>T (p.His3745Leu) c.11072A>T (p.His3691Leu) c.2366A>T (p.His789Leu) c.689A>T (p.His230Leu) c.4793A>T (p.His1598Leu) c.4880A>T (p.His1627Leu) c.4817A>T (p.His1606Leu) c.5015A>T (p.His1672Leu) c.4916A>T (p.His1639Leu) c.11108A>T (p.His3703Leu) c.4718A>T (p.His1573Leu) c.*472A>T (n.*472A>T) c.11051A>T (p.His3684Leu) c.4595A>T (p.His1532Leu) c.11048A>T (p.His3683Leu) c.4694A>T (p.His1565Leu) c.11279A>T (p.His3760Leu) c.4829A>T (p.His1610Leu) c.4814A>T (p.His1605Leu) c.11315A>T (p.His3772Leu) c.4802A>T (p.His1601Leu) c.11036A>T (p.His3679Leu) c.4754A>T (p.His1585Leu) c.4952A>T (p.His1651Leu) c.2543A>T (p.His848Leu) c.11135A>T (p.His3712Leu) c.5024A>T (p.His1675Leu) c.11171A>T (p.His3724Leu) c.4781A>T (p.His1594Leu) c.10973A>T (p.His3658Leu) c.4853A>T (p.His1618Leu) c.4397A>T (p.His1466Leu) c.2528A>T (p.His843Leu) c.10949A>T (p.His3650Leu) c.2507A>T (p.His836Leu) c.11180A>T (p.His3727Leu) c.4745A>T (p.His1582Leu) c.4487A>T (p.His1496Leu) c.11009A>T (p.His3670Leu) c.4979A>T (p.His1660Leu) c.2264A>T (p.His755Leu) c.935A>T (p.His312Leu) c.1983A>T c.*2595A>T (n.*2595A>T) c.11267A>T (p.His3756Leu) c.4976A>T (p.His1659Leu) c.11321A>T (p.His3774Leu) c.11285A>T (p.His3762Leu) c.5033A>T (p.His1678Leu) c.5066A>T (p.His1689Leu) c.4997A>T (p.His1666Leu) c.11261A>T (p.His3754Leu) c.11306A>T (p.His3769Leu) c.4991A>T (p.His1664Leu) c.4958A>T (p.His1653Leu) c.5021A>T (p.His1674Leu) c.4877A>T (p.His1626Leu) c.5057A>T (p.His1686Leu) c.4949A>T (p.His1650Leu) c.4913A>T (p.His1638Leu) c.4928A>T (p.His1643Leu) c.4838A>T (p.His1613Leu) c.4766A>T (p.His1589Leu) c.4850A>T (p.His1617Leu) c.4679A>T (p.His1560Leu) c.11351A>T (p.His3784Leu) c.11237A>T (p.His3746Leu) c.11207A>T (p.His3736Leu) c.11270A>T (p.His3757Leu) c.11000A>T (p.His3667Leu) c.4760A>T (p.His1587Leu) c.4805A>T (p.His1602Leu) c.4964A>T (p.His1655Leu) c.5036A>T (p.His1679Leu) c.4496A>T (p.His1499Leu) c.4823A>T (p.His1608Leu) c.7634A>T (p.His2545Leu) c.1379A>T (p.His460Leu) c.4844A>T (p.His1615Leu) | |
4 | g.113367768C>A | CA357942253 | ANK2 | c.11376C>A (p.His3792Gln) c.5061C>A (p.His1687Gln) c.1662C>A (p.His554Gln) c.2160C>A (p.His720Gln) n.2617C>A n.1825C>A n.2569C>A n.1398C>A n.3360C>A n.1341C>A n.1734C>A n.8080C>A n.2706C>A n.690C>A n.3124C>A n.1339C>A c.11235C>A (p.His3745Gln) c.11073C>A (p.His3691Gln) c.2367C>A (p.His789Gln) c.690C>A (p.His230Gln) c.4794C>A (p.His1598Gln) c.4881C>A (p.His1627Gln) c.4818C>A (p.His1606Gln) c.5016C>A (p.His1672Gln) c.4917C>A (p.His1639Gln) c.11109C>A (p.His3703Gln) c.4719C>A (p.His1573Gln) c.*473C>A (n.*473C>A) c.11052C>A (p.His3684Gln) c.4596C>A (p.His1532Gln) c.11049C>A (p.His3683Gln) c.4695C>A (p.His1565Gln) c.11280C>A (p.His3760Gln) c.4830C>A (p.His1610Gln) c.4815C>A (p.His1605Gln) c.11316C>A (p.His3772Gln) c.4803C>A (p.His1601Gln) c.11037C>A (p.His3679Gln) c.4755C>A (p.His1585Gln) c.4953C>A (p.His1651Gln) c.2544C>A (p.His848Gln) c.11136C>A (p.His3712Gln) c.5025C>A (p.His1675Gln) c.11172C>A (p.His3724Gln) c.4782C>A (p.His1594Gln) c.10974C>A (p.His3658Gln) c.4854C>A (p.His1618Gln) c.4398C>A (p.His1466Gln) c.2529C>A (p.His843Gln) c.10950C>A (p.His3650Gln) c.2508C>A (p.His836Gln) c.11181C>A (p.His3727Gln) c.4746C>A (p.His1582Gln) c.4488C>A (p.His1496Gln) c.11010C>A (p.His3670Gln) c.4980C>A (p.His1660Gln) c.2265C>A (p.His755Gln) c.936C>A (p.His312Gln) c.1984C>A c.*2596C>A (n.*2596C>A) c.11268C>A (p.His3756Gln) c.4977C>A (p.His1659Gln) c.11322C>A (p.His3774Gln) c.11286C>A (p.His3762Gln) c.5034C>A (p.His1678Gln) c.5067C>A (p.His1689Gln) c.4998C>A (p.His1666Gln) c.11262C>A (p.His3754Gln) c.11307C>A (p.His3769Gln) c.4992C>A (p.His1664Gln) c.4959C>A (p.His1653Gln) c.5022C>A (p.His1674Gln) c.4878C>A (p.His1626Gln) c.5058C>A (p.His1686Gln) c.4950C>A (p.His1650Gln) c.4914C>A (p.His1638Gln) c.4929C>A (p.His1643Gln) c.4839C>A (p.His1613Gln) c.4767C>A (p.His1589Gln) c.4851C>A (p.His1617Gln) c.4680C>A (p.His1560Gln) c.11352C>A (p.His3784Gln) c.11238C>A (p.His3746Gln) c.11208C>A (p.His3736Gln) c.11271C>A (p.His3757Gln) c.11001C>A (p.His3667Gln) c.4761C>A (p.His1587Gln) c.4806C>A (p.His1602Gln) c.4965C>A (p.His1655Gln) c.5037C>A (p.His1679Gln) c.4497C>A (p.His1499Gln) c.4824C>A (p.His1608Gln) c.7635C>A (p.His2545Gln) c.1380C>A (p.His460Gln) c.4845C>A (p.His1615Gln) | |
4 | g.113367768C>G | CA357942254 | ANK2 | c.11376C>G (p.His3792Gln) c.5061C>G (p.His1687Gln) c.1662C>G (p.His554Gln) c.2160C>G (p.His720Gln) n.2617C>G n.1825C>G n.2569C>G n.1398C>G n.3360C>G n.1341C>G n.1734C>G n.8080C>G n.2706C>G n.690C>G n.3124C>G n.1339C>G c.11235C>G (p.His3745Gln) c.11073C>G (p.His3691Gln) c.2367C>G (p.His789Gln) c.690C>G (p.His230Gln) c.4794C>G (p.His1598Gln) c.4881C>G (p.His1627Gln) c.4818C>G (p.His1606Gln) c.5016C>G (p.His1672Gln) c.4917C>G (p.His1639Gln) c.11109C>G (p.His3703Gln) c.4719C>G (p.His1573Gln) c.*473C>G (n.*473C>G) c.11052C>G (p.His3684Gln) c.4596C>G (p.His1532Gln) c.11049C>G (p.His3683Gln) c.4695C>G (p.His1565Gln) c.11280C>G (p.His3760Gln) c.4830C>G (p.His1610Gln) c.4815C>G (p.His1605Gln) c.11316C>G (p.His3772Gln) c.4803C>G (p.His1601Gln) c.11037C>G (p.His3679Gln) c.4755C>G (p.His1585Gln) c.4953C>G (p.His1651Gln) c.2544C>G (p.His848Gln) c.11136C>G (p.His3712Gln) c.5025C>G (p.His1675Gln) c.11172C>G (p.His3724Gln) c.4782C>G (p.His1594Gln) c.10974C>G (p.His3658Gln) c.4854C>G (p.His1618Gln) c.4398C>G (p.His1466Gln) c.2529C>G (p.His843Gln) c.10950C>G (p.His3650Gln) c.2508C>G (p.His836Gln) c.11181C>G (p.His3727Gln) c.4746C>G (p.His1582Gln) c.4488C>G (p.His1496Gln) c.11010C>G (p.His3670Gln) c.4980C>G (p.His1660Gln) c.2265C>G (p.His755Gln) c.936C>G (p.His312Gln) c.1984C>G c.*2596C>G (n.*2596C>G) c.11268C>G (p.His3756Gln) c.4977C>G (p.His1659Gln) c.11322C>G (p.His3774Gln) c.11286C>G (p.His3762Gln) c.5034C>G (p.His1678Gln) c.5067C>G (p.His1689Gln) c.4998C>G (p.His1666Gln) c.11262C>G (p.His3754Gln) c.11307C>G (p.His3769Gln) c.4992C>G (p.His1664Gln) c.4959C>G (p.His1653Gln) c.5022C>G (p.His1674Gln) c.4878C>G (p.His1626Gln) c.5058C>G (p.His1686Gln) c.4950C>G (p.His1650Gln) c.4914C>G (p.His1638Gln) c.4929C>G (p.His1643Gln) c.4839C>G (p.His1613Gln) c.4767C>G (p.His1589Gln) c.4851C>G (p.His1617Gln) c.4680C>G (p.His1560Gln) c.11352C>G (p.His3784Gln) c.11238C>G (p.His3746Gln) c.11208C>G (p.His3736Gln) c.11271C>G (p.His3757Gln) c.11001C>G (p.His3667Gln) c.4761C>G (p.His1587Gln) c.4806C>G (p.His1602Gln) c.4965C>G (p.His1655Gln) c.5037C>G (p.His1679Gln) c.4497C>G (p.His1499Gln) c.4824C>G (p.His1608Gln) c.7635C>G (p.His2545Gln) c.1380C>G (p.His460Gln) c.4845C>G (p.His1615Gln) | |
4 | g.113367768C>T | CA103822990 | ANK2 | c.11376C>T (p.His3792=) c.5061C>T (p.His1687=) c.1662C>T (p.His554=) c.2160C>T (p.His720=) n.2617C>T n.1825C>T n.2569C>T n.1398C>T n.3360C>T n.1341C>T n.1734C>T n.8080C>T n.2706C>T n.690C>T n.3124C>T n.1339C>T c.11235C>T (p.His3745=) c.11073C>T (p.His3691=) c.2367C>T (p.His789=) c.690C>T (p.His230=) c.4794C>T (p.His1598=) c.4881C>T (p.His1627=) c.4818C>T (p.His1606=) c.5016C>T (p.His1672=) c.4917C>T (p.His1639=) c.11109C>T (p.His3703=) c.4719C>T (p.His1573=) c.*473C>T (n.*473C>T) c.11052C>T (p.His3684=) c.4596C>T (p.His1532=) c.11049C>T (p.His3683=) c.4695C>T (p.His1565=) c.11280C>T (p.His3760=) c.4830C>T (p.His1610=) c.4815C>T (p.His1605=) c.11316C>T (p.His3772=) c.4803C>T (p.His1601=) c.11037C>T (p.His3679=) c.4755C>T (p.His1585=) c.4953C>T (p.His1651=) c.2544C>T (p.His848=) c.11136C>T (p.His3712=) c.5025C>T (p.His1675=) c.11172C>T (p.His3724=) c.4782C>T (p.His1594=) c.10974C>T (p.His3658=) c.4854C>T (p.His1618=) c.4398C>T (p.His1466=) c.2529C>T (p.His843=) c.10950C>T (p.His3650=) c.2508C>T (p.His836=) c.11181C>T (p.His3727=) c.4746C>T (p.His1582=) c.4488C>T (p.His1496=) c.11010C>T (p.His3670=) c.4980C>T (p.His1660=) c.2265C>T (p.His755=) c.936C>T (p.His312=) c.1984C>T c.*2596C>T (n.*2596C>T) c.11268C>T (p.His3756=) c.4977C>T (p.His1659=) c.11322C>T (p.His3774=) c.11286C>T (p.His3762=) c.5034C>T (p.His1678=) c.5067C>T (p.His1689=) c.4998C>T (p.His1666=) c.11262C>T (p.His3754=) c.11307C>T (p.His3769=) c.4992C>T (p.His1664=) c.4959C>T (p.His1653=) c.5022C>T (p.His1674=) c.4878C>T (p.His1626=) c.5058C>T (p.His1686=) c.4950C>T (p.His1650=) c.4914C>T (p.His1638=) c.4929C>T (p.His1643=) c.4839C>T (p.His1613=) c.4767C>T (p.His1589=) c.4851C>T (p.His1617=) c.4680C>T (p.His1560=) c.11352C>T (p.His3784=) c.11238C>T (p.His3746=) c.11208C>T (p.His3736=) c.11271C>T (p.His3757=) c.11001C>T (p.His3667=) c.4761C>T (p.His1587=) c.4806C>T (p.His1602=) c.4965C>T (p.His1655=) c.5037C>T (p.His1679=) c.4497C>T (p.His1499=) c.4824C>T (p.His1608=) c.7635C>T (p.His2545=) c.1380C>T (p.His460=) c.4845C>T (p.His1615=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.113367769A>C | CA357942257 | ANK2 | c.11377A>C (p.Lys3793Gln) c.5062A>C (p.Lys1688Gln) c.1663A>C (p.Lys555Gln) c.2161A>C (p.Lys721Gln) n.2618A>C n.1826A>C n.2570A>C n.1399A>C n.3361A>C n.1342A>C n.1735A>C n.8081A>C n.2707A>C n.691A>C n.3125A>C n.1340A>C c.11236A>C (p.Lys3746Gln) c.11074A>C (p.Lys3692Gln) c.2368A>C (p.Lys790Gln) c.691A>C (p.Lys231Gln) c.4795A>C (p.Lys1599Gln) c.4882A>C (p.Lys1628Gln) c.4819A>C (p.Lys1607Gln) c.5017A>C (p.Lys1673Gln) c.4918A>C (p.Lys1640Gln) c.11110A>C (p.Lys3704Gln) c.4720A>C (p.Lys1574Gln) c.*474A>C (n.*474A>C) c.11053A>C (p.Lys3685Gln) c.4597A>C (p.Lys1533Gln) c.11050A>C (p.Lys3684Gln) c.4696A>C (p.Lys1566Gln) c.11281A>C (p.Lys3761Gln) c.4831A>C (p.Lys1611Gln) c.4816A>C (p.Lys1606Gln) c.11317A>C (p.Lys3773Gln) c.4804A>C (p.Lys1602Gln) c.11038A>C (p.Lys3680Gln) c.4756A>C (p.Lys1586Gln) c.4954A>C (p.Lys1652Gln) c.2545A>C (p.Lys849Gln) c.11137A>C (p.Lys3713Gln) c.5026A>C (p.Lys1676Gln) c.11173A>C (p.Lys3725Gln) c.4783A>C (p.Lys1595Gln) c.10975A>C (p.Lys3659Gln) c.4855A>C (p.Lys1619Gln) c.4399A>C (p.Lys1467Gln) c.2530A>C (p.Lys844Gln) c.10951A>C (p.Lys3651Gln) c.2509A>C (p.Lys837Gln) c.11182A>C (p.Lys3728Gln) c.4747A>C (p.Lys1583Gln) c.4489A>C (p.Lys1497Gln) c.11011A>C (p.Lys3671Gln) c.4981A>C (p.Lys1661Gln) c.2266A>C (p.Lys756Gln) c.937A>C (p.Lys313Gln) c.1985A>C c.*2597A>C (n.*2597A>C) c.11269A>C (p.Lys3757Gln) c.4978A>C (p.Lys1660Gln) c.11323A>C (p.Lys3775Gln) c.11287A>C (p.Lys3763Gln) c.5035A>C (p.Lys1679Gln) c.5068A>C (p.Lys1690Gln) c.4999A>C (p.Lys1667Gln) c.11263A>C (p.Lys3755Gln) c.11308A>C (p.Lys3770Gln) c.4993A>C (p.Lys1665Gln) c.4960A>C (p.Lys1654Gln) c.5023A>C (p.Lys1675Gln) c.4879A>C (p.Lys1627Gln) c.5059A>C (p.Lys1687Gln) c.4951A>C (p.Lys1651Gln) c.4915A>C (p.Lys1639Gln) c.4930A>C (p.Lys1644Gln) c.4840A>C (p.Lys1614Gln) c.4768A>C (p.Lys1590Gln) c.4852A>C (p.Lys1618Gln) c.4681A>C (p.Lys1561Gln) c.11353A>C (p.Lys3785Gln) c.11239A>C (p.Lys3747Gln) c.11209A>C (p.Lys3737Gln) c.11272A>C (p.Lys3758Gln) c.11002A>C (p.Lys3668Gln) c.4762A>C (p.Lys1588Gln) c.4807A>C (p.Lys1603Gln) c.4966A>C (p.Lys1656Gln) c.5038A>C (p.Lys1680Gln) c.4498A>C (p.Lys1500Gln) c.4825A>C (p.Lys1609Gln) c.7636A>C (p.Lys2546Gln) c.1381A>C (p.Lys461Gln) c.4846A>C (p.Lys1616Gln) | |
4 | g.113367769A>G | CA357942255 | ANK2 | c.11377A>G (p.Lys3793Glu) c.5062A>G (p.Lys1688Glu) c.1663A>G (p.Lys555Glu) c.2161A>G (p.Lys721Glu) n.2618A>G n.1826A>G n.2570A>G n.1399A>G n.3361A>G n.1342A>G n.1735A>G n.8081A>G n.2707A>G n.691A>G n.3125A>G n.1340A>G c.11236A>G (p.Lys3746Glu) c.11074A>G (p.Lys3692Glu) c.2368A>G (p.Lys790Glu) c.691A>G (p.Lys231Glu) c.4795A>G (p.Lys1599Glu) c.4882A>G (p.Lys1628Glu) c.4819A>G (p.Lys1607Glu) c.5017A>G (p.Lys1673Glu) c.4918A>G (p.Lys1640Glu) c.11110A>G (p.Lys3704Glu) c.4720A>G (p.Lys1574Glu) c.*474A>G (n.*474A>G) c.11053A>G (p.Lys3685Glu) c.4597A>G (p.Lys1533Glu) c.11050A>G (p.Lys3684Glu) c.4696A>G (p.Lys1566Glu) c.11281A>G (p.Lys3761Glu) c.4831A>G (p.Lys1611Glu) c.4816A>G (p.Lys1606Glu) c.11317A>G (p.Lys3773Glu) c.4804A>G (p.Lys1602Glu) c.11038A>G (p.Lys3680Glu) c.4756A>G (p.Lys1586Glu) c.4954A>G (p.Lys1652Glu) c.2545A>G (p.Lys849Glu) c.11137A>G (p.Lys3713Glu) c.5026A>G (p.Lys1676Glu) c.11173A>G (p.Lys3725Glu) c.4783A>G (p.Lys1595Glu) c.10975A>G (p.Lys3659Glu) c.4855A>G (p.Lys1619Glu) c.4399A>G (p.Lys1467Glu) c.2530A>G (p.Lys844Glu) c.10951A>G (p.Lys3651Glu) c.2509A>G (p.Lys837Glu) c.11182A>G (p.Lys3728Glu) c.4747A>G (p.Lys1583Glu) c.4489A>G (p.Lys1497Glu) c.11011A>G (p.Lys3671Glu) c.4981A>G (p.Lys1661Glu) c.2266A>G (p.Lys756Glu) c.937A>G (p.Lys313Glu) c.1985A>G c.*2597A>G (n.*2597A>G) c.11269A>G (p.Lys3757Glu) c.4978A>G (p.Lys1660Glu) c.11323A>G (p.Lys3775Glu) c.11287A>G (p.Lys3763Glu) c.5035A>G (p.Lys1679Glu) c.5068A>G (p.Lys1690Glu) c.4999A>G (p.Lys1667Glu) c.11263A>G (p.Lys3755Glu) c.11308A>G (p.Lys3770Glu) c.4993A>G (p.Lys1665Glu) c.4960A>G (p.Lys1654Glu) c.5023A>G (p.Lys1675Glu) c.4879A>G (p.Lys1627Glu) c.5059A>G (p.Lys1687Glu) c.4951A>G (p.Lys1651Glu) c.4915A>G (p.Lys1639Glu) c.4930A>G (p.Lys1644Glu) c.4840A>G (p.Lys1614Glu) c.4768A>G (p.Lys1590Glu) c.4852A>G (p.Lys1618Glu) c.4681A>G (p.Lys1561Glu) c.11353A>G (p.Lys3785Glu) c.11239A>G (p.Lys3747Glu) c.11209A>G (p.Lys3737Glu) c.11272A>G (p.Lys3758Glu) c.11002A>G (p.Lys3668Glu) c.4762A>G (p.Lys1588Glu) c.4807A>G (p.Lys1603Glu) c.4966A>G (p.Lys1656Glu) c.5038A>G (p.Lys1680Glu) c.4498A>G (p.Lys1500Glu) c.4825A>G (p.Lys1609Glu) c.7636A>G (p.Lys2546Glu) c.1381A>G (p.Lys461Glu) c.4846A>G (p.Lys1616Glu) | |
4 | g.113367769A>T | CA357942256 | ANK2 | c.11377A>T (p.Lys3793Ter) c.5062A>T (p.Lys1688Ter) c.1663A>T (p.Lys555Ter) c.2161A>T (p.Lys721Ter) n.2618A>T n.1826A>T n.2570A>T n.1399A>T n.3361A>T n.1342A>T n.1735A>T n.8081A>T n.2707A>T n.691A>T n.3125A>T n.1340A>T c.11236A>T (p.Lys3746Ter) c.11074A>T (p.Lys3692Ter) c.2368A>T (p.Lys790Ter) c.691A>T (p.Lys231Ter) c.4795A>T (p.Lys1599Ter) c.4882A>T (p.Lys1628Ter) c.4819A>T (p.Lys1607Ter) c.5017A>T (p.Lys1673Ter) c.4918A>T (p.Lys1640Ter) c.11110A>T (p.Lys3704Ter) c.4720A>T (p.Lys1574Ter) c.*474A>T (n.*474A>T) c.11053A>T (p.Lys3685Ter) c.4597A>T (p.Lys1533Ter) c.11050A>T (p.Lys3684Ter) c.4696A>T (p.Lys1566Ter) c.11281A>T (p.Lys3761Ter) c.4831A>T (p.Lys1611Ter) c.4816A>T (p.Lys1606Ter) c.11317A>T (p.Lys3773Ter) c.4804A>T (p.Lys1602Ter) c.11038A>T (p.Lys3680Ter) c.4756A>T (p.Lys1586Ter) c.4954A>T (p.Lys1652Ter) c.2545A>T (p.Lys849Ter) c.11137A>T (p.Lys3713Ter) c.5026A>T (p.Lys1676Ter) c.11173A>T (p.Lys3725Ter) c.4783A>T (p.Lys1595Ter) c.10975A>T (p.Lys3659Ter) c.4855A>T (p.Lys1619Ter) c.4399A>T (p.Lys1467Ter) c.2530A>T (p.Lys844Ter) c.10951A>T (p.Lys3651Ter) c.2509A>T (p.Lys837Ter) c.11182A>T (p.Lys3728Ter) c.4747A>T (p.Lys1583Ter) c.4489A>T (p.Lys1497Ter) c.11011A>T (p.Lys3671Ter) c.4981A>T (p.Lys1661Ter) c.2266A>T (p.Lys756Ter) c.937A>T (p.Lys313Ter) c.1985A>T c.*2597A>T (n.*2597A>T) c.11269A>T (p.Lys3757Ter) c.4978A>T (p.Lys1660Ter) c.11323A>T (p.Lys3775Ter) c.11287A>T (p.Lys3763Ter) c.5035A>T (p.Lys1679Ter) c.5068A>T (p.Lys1690Ter) c.4999A>T (p.Lys1667Ter) c.11263A>T (p.Lys3755Ter) c.11308A>T (p.Lys3770Ter) c.4993A>T (p.Lys1665Ter) c.4960A>T (p.Lys1654Ter) c.5023A>T (p.Lys1675Ter) c.4879A>T (p.Lys1627Ter) c.5059A>T (p.Lys1687Ter) c.4951A>T (p.Lys1651Ter) c.4915A>T (p.Lys1639Ter) c.4930A>T (p.Lys1644Ter) c.4840A>T (p.Lys1614Ter) c.4768A>T (p.Lys1590Ter) c.4852A>T (p.Lys1618Ter) c.4681A>T (p.Lys1561Ter) c.11353A>T (p.Lys3785Ter) c.11239A>T (p.Lys3747Ter) c.11209A>T (p.Lys3737Ter) c.11272A>T (p.Lys3758Ter) c.11002A>T (p.Lys3668Ter) c.4762A>T (p.Lys1588Ter) c.4807A>T (p.Lys1603Ter) c.4966A>T (p.Lys1656Ter) c.5038A>T (p.Lys1680Ter) c.4498A>T (p.Lys1500Ter) c.4825A>T (p.Lys1609Ter) c.7636A>T (p.Lys2546Ter) c.1381A>T (p.Lys461Ter) c.4846A>T (p.Lys1616Ter) | |
4 | g.113367770A>C | CA357942258 | ANK2 | c.11378A>C (p.Lys3793Thr) c.5063A>C (p.Lys1688Thr) c.1664A>C (p.Lys555Thr) c.2162A>C (p.Lys721Thr) n.2619A>C n.1827A>C n.2571A>C n.1400A>C n.3362A>C n.1343A>C n.1736A>C n.8082A>C n.2708A>C n.692A>C n.3126A>C n.1341A>C c.11237A>C (p.Lys3746Thr) c.11075A>C (p.Lys3692Thr) c.2369A>C (p.Lys790Thr) c.692A>C (p.Lys231Thr) c.4796A>C (p.Lys1599Thr) c.4883A>C (p.Lys1628Thr) c.4820A>C (p.Lys1607Thr) c.5018A>C (p.Lys1673Thr) c.4919A>C (p.Lys1640Thr) c.11111A>C (p.Lys3704Thr) c.4721A>C (p.Lys1574Thr) c.*475A>C (n.*475A>C) c.11054A>C (p.Lys3685Thr) c.4598A>C (p.Lys1533Thr) c.11051A>C (p.Lys3684Thr) c.4697A>C (p.Lys1566Thr) c.11282A>C (p.Lys3761Thr) c.4832A>C (p.Lys1611Thr) c.4817A>C (p.Lys1606Thr) c.11318A>C (p.Lys3773Thr) c.4805A>C (p.Lys1602Thr) c.11039A>C (p.Lys3680Thr) c.4757A>C (p.Lys1586Thr) c.4955A>C (p.Lys1652Thr) c.2546A>C (p.Lys849Thr) c.11138A>C (p.Lys3713Thr) c.5027A>C (p.Lys1676Thr) c.11174A>C (p.Lys3725Thr) c.4784A>C (p.Lys1595Thr) c.10976A>C (p.Lys3659Thr) c.4856A>C (p.Lys1619Thr) c.4400A>C (p.Lys1467Thr) c.2531A>C (p.Lys844Thr) c.10952A>C (p.Lys3651Thr) c.2510A>C (p.Lys837Thr) c.11183A>C (p.Lys3728Thr) c.4748A>C (p.Lys1583Thr) c.4490A>C (p.Lys1497Thr) c.11012A>C (p.Lys3671Thr) c.4982A>C (p.Lys1661Thr) c.2267A>C (p.Lys756Thr) c.938A>C (p.Lys313Thr) c.1986A>C c.*2598A>C (n.*2598A>C) c.11270A>C (p.Lys3757Thr) c.4979A>C (p.Lys1660Thr) c.11324A>C (p.Lys3775Thr) c.11288A>C (p.Lys3763Thr) c.5036A>C (p.Lys1679Thr) c.5069A>C (p.Lys1690Thr) c.5000A>C (p.Lys1667Thr) c.11264A>C (p.Lys3755Thr) c.11309A>C (p.Lys3770Thr) c.4994A>C (p.Lys1665Thr) c.4961A>C (p.Lys1654Thr) c.5024A>C (p.Lys1675Thr) c.4880A>C (p.Lys1627Thr) c.5060A>C (p.Lys1687Thr) c.4952A>C (p.Lys1651Thr) c.4916A>C (p.Lys1639Thr) c.4931A>C (p.Lys1644Thr) c.4841A>C (p.Lys1614Thr) c.4769A>C (p.Lys1590Thr) c.4853A>C (p.Lys1618Thr) c.4682A>C (p.Lys1561Thr) c.11354A>C (p.Lys3785Thr) c.11240A>C (p.Lys3747Thr) c.11210A>C (p.Lys3737Thr) c.11273A>C (p.Lys3758Thr) c.11003A>C (p.Lys3668Thr) c.4763A>C (p.Lys1588Thr) c.4808A>C (p.Lys1603Thr) c.4967A>C (p.Lys1656Thr) c.5039A>C (p.Lys1680Thr) c.4499A>C (p.Lys1500Thr) c.4826A>C (p.Lys1609Thr) c.7637A>C (p.Lys2546Thr) c.1382A>C (p.Lys461Thr) c.4847A>C (p.Lys1616Thr) | gnomAD v4 |
4 | g.113367770A>G | CA357942259 | ANK2 | c.11378A>G (p.Lys3793Arg) c.5063A>G (p.Lys1688Arg) c.1664A>G (p.Lys555Arg) c.2162A>G (p.Lys721Arg) n.2619A>G n.1827A>G n.2571A>G n.1400A>G n.3362A>G n.1343A>G n.1736A>G n.8082A>G n.2708A>G n.692A>G n.3126A>G n.1341A>G c.11237A>G (p.Lys3746Arg) c.11075A>G (p.Lys3692Arg) c.2369A>G (p.Lys790Arg) c.692A>G (p.Lys231Arg) c.4796A>G (p.Lys1599Arg) c.4883A>G (p.Lys1628Arg) c.4820A>G (p.Lys1607Arg) c.5018A>G (p.Lys1673Arg) c.4919A>G (p.Lys1640Arg) c.11111A>G (p.Lys3704Arg) c.4721A>G (p.Lys1574Arg) c.*475A>G (n.*475A>G) c.11054A>G (p.Lys3685Arg) c.4598A>G (p.Lys1533Arg) c.11051A>G (p.Lys3684Arg) c.4697A>G (p.Lys1566Arg) c.11282A>G (p.Lys3761Arg) c.4832A>G (p.Lys1611Arg) c.4817A>G (p.Lys1606Arg) c.11318A>G (p.Lys3773Arg) c.4805A>G (p.Lys1602Arg) c.11039A>G (p.Lys3680Arg) c.4757A>G (p.Lys1586Arg) c.4955A>G (p.Lys1652Arg) c.2546A>G (p.Lys849Arg) c.11138A>G (p.Lys3713Arg) c.5027A>G (p.Lys1676Arg) c.11174A>G (p.Lys3725Arg) c.4784A>G (p.Lys1595Arg) c.10976A>G (p.Lys3659Arg) c.4856A>G (p.Lys1619Arg) c.4400A>G (p.Lys1467Arg) c.2531A>G (p.Lys844Arg) c.10952A>G (p.Lys3651Arg) c.2510A>G (p.Lys837Arg) c.11183A>G (p.Lys3728Arg) c.4748A>G (p.Lys1583Arg) c.4490A>G (p.Lys1497Arg) c.11012A>G (p.Lys3671Arg) c.4982A>G (p.Lys1661Arg) c.2267A>G (p.Lys756Arg) c.938A>G (p.Lys313Arg) c.1986A>G c.*2598A>G (n.*2598A>G) c.11270A>G (p.Lys3757Arg) c.4979A>G (p.Lys1660Arg) c.11324A>G (p.Lys3775Arg) c.11288A>G (p.Lys3763Arg) c.5036A>G (p.Lys1679Arg) c.5069A>G (p.Lys1690Arg) c.5000A>G (p.Lys1667Arg) c.11264A>G (p.Lys3755Arg) c.11309A>G (p.Lys3770Arg) c.4994A>G (p.Lys1665Arg) c.4961A>G (p.Lys1654Arg) c.5024A>G (p.Lys1675Arg) c.4880A>G (p.Lys1627Arg) c.5060A>G (p.Lys1687Arg) c.4952A>G (p.Lys1651Arg) c.4916A>G (p.Lys1639Arg) c.4931A>G (p.Lys1644Arg) c.4841A>G (p.Lys1614Arg) c.4769A>G (p.Lys1590Arg) c.4853A>G (p.Lys1618Arg) c.4682A>G (p.Lys1561Arg) c.11354A>G (p.Lys3785Arg) c.11240A>G (p.Lys3747Arg) c.11210A>G (p.Lys3737Arg) c.11273A>G (p.Lys3758Arg) c.11003A>G (p.Lys3668Arg) c.4763A>G (p.Lys1588Arg) c.4808A>G (p.Lys1603Arg) c.4967A>G (p.Lys1656Arg) c.5039A>G (p.Lys1680Arg) c.4499A>G (p.Lys1500Arg) c.4826A>G (p.Lys1609Arg) c.7637A>G (p.Lys2546Arg) c.1382A>G (p.Lys461Arg) c.4847A>G (p.Lys1616Arg) | |
4 | g.113367770A>T | CA357942260 | ANK2 | c.11378A>T (p.Lys3793Met) c.5063A>T (p.Lys1688Met) c.1664A>T (p.Lys555Met) c.2162A>T (p.Lys721Met) n.2619A>T n.1827A>T n.2571A>T n.1400A>T n.3362A>T n.1343A>T n.1736A>T n.8082A>T n.2708A>T n.692A>T n.3126A>T n.1341A>T c.11237A>T (p.Lys3746Met) c.11075A>T (p.Lys3692Met) c.2369A>T (p.Lys790Met) c.692A>T (p.Lys231Met) c.4796A>T (p.Lys1599Met) c.4883A>T (p.Lys1628Met) c.4820A>T (p.Lys1607Met) c.5018A>T (p.Lys1673Met) c.4919A>T (p.Lys1640Met) c.11111A>T (p.Lys3704Met) c.4721A>T (p.Lys1574Met) c.*475A>T (n.*475A>T) c.11054A>T (p.Lys3685Met) c.4598A>T (p.Lys1533Met) c.11051A>T (p.Lys3684Met) c.4697A>T (p.Lys1566Met) c.11282A>T (p.Lys3761Met) c.4832A>T (p.Lys1611Met) c.4817A>T (p.Lys1606Met) c.11318A>T (p.Lys3773Met) c.4805A>T (p.Lys1602Met) c.11039A>T (p.Lys3680Met) c.4757A>T (p.Lys1586Met) c.4955A>T (p.Lys1652Met) c.2546A>T (p.Lys849Met) c.11138A>T (p.Lys3713Met) c.5027A>T (p.Lys1676Met) c.11174A>T (p.Lys3725Met) c.4784A>T (p.Lys1595Met) c.10976A>T (p.Lys3659Met) c.4856A>T (p.Lys1619Met) c.4400A>T (p.Lys1467Met) c.2531A>T (p.Lys844Met) c.10952A>T (p.Lys3651Met) c.2510A>T (p.Lys837Met) c.11183A>T (p.Lys3728Met) c.4748A>T (p.Lys1583Met) c.4490A>T (p.Lys1497Met) c.11012A>T (p.Lys3671Met) c.4982A>T (p.Lys1661Met) c.2267A>T (p.Lys756Met) c.938A>T (p.Lys313Met) c.1986A>T c.*2598A>T (n.*2598A>T) c.11270A>T (p.Lys3757Met) c.4979A>T (p.Lys1660Met) c.11324A>T (p.Lys3775Met) c.11288A>T (p.Lys3763Met) c.5036A>T (p.Lys1679Met) c.5069A>T (p.Lys1690Met) c.5000A>T (p.Lys1667Met) c.11264A>T (p.Lys3755Met) c.11309A>T (p.Lys3770Met) c.4994A>T (p.Lys1665Met) c.4961A>T (p.Lys1654Met) c.5024A>T (p.Lys1675Met) c.4880A>T (p.Lys1627Met) c.5060A>T (p.Lys1687Met) c.4952A>T (p.Lys1651Met) c.4916A>T (p.Lys1639Met) c.4931A>T (p.Lys1644Met) c.4841A>T (p.Lys1614Met) c.4769A>T (p.Lys1590Met) c.4853A>T (p.Lys1618Met) c.4682A>T (p.Lys1561Met) c.11354A>T (p.Lys3785Met) c.11240A>T (p.Lys3747Met) c.11210A>T (p.Lys3737Met) c.11273A>T (p.Lys3758Met) c.11003A>T (p.Lys3668Met) c.4763A>T (p.Lys1588Met) c.4808A>T (p.Lys1603Met) c.4967A>T (p.Lys1656Met) c.5039A>T (p.Lys1680Met) c.4499A>T (p.Lys1500Met) c.4826A>T (p.Lys1609Met) c.7637A>T (p.Lys2546Met) c.1382A>T (p.Lys461Met) c.4847A>T (p.Lys1616Met) | |
4 | g.113367771G>A | CA440833246 | ANK2 | c.11379G>A (p.Lys3793=) c.5064G>A (p.Lys1688=) c.1665G>A (p.Lys555=) c.2163G>A (p.Lys721=) n.2620G>A n.1828G>A n.2572G>A n.1401G>A n.3363G>A n.1344G>A n.1737G>A n.8083G>A n.2709G>A n.693G>A n.3127G>A n.1342G>A c.11238G>A (p.Lys3746=) c.11076G>A (p.Lys3692=) c.2370G>A (p.Lys790=) c.693G>A (p.Lys231=) c.4797G>A (p.Lys1599=) c.4884G>A (p.Lys1628=) c.4821G>A (p.Lys1607=) c.5019G>A (p.Lys1673=) c.4920G>A (p.Lys1640=) c.11112G>A (p.Lys3704=) c.4722G>A (p.Lys1574=) c.*476G>A (n.*476G>A) c.11055G>A (p.Lys3685=) c.4599G>A (p.Lys1533=) c.11052G>A (p.Lys3684=) c.4698G>A (p.Lys1566=) c.11283G>A (p.Lys3761=) c.4833G>A (p.Lys1611=) c.4818G>A (p.Lys1606=) c.11319G>A (p.Lys3773=) c.4806G>A (p.Lys1602=) c.11040G>A (p.Lys3680=) c.4758G>A (p.Lys1586=) c.4956G>A (p.Lys1652=) c.2547G>A (p.Lys849=) c.11139G>A (p.Lys3713=) c.5028G>A (p.Lys1676=) c.11175G>A (p.Lys3725=) c.4785G>A (p.Lys1595=) c.10977G>A (p.Lys3659=) c.4857G>A (p.Lys1619=) c.4401G>A (p.Lys1467=) c.2532G>A (p.Lys844=) c.10953G>A (p.Lys3651=) c.2511G>A (p.Lys837=) c.11184G>A (p.Lys3728=) c.4749G>A (p.Lys1583=) c.4491G>A (p.Lys1497=) c.11013G>A (p.Lys3671=) c.4983G>A (p.Lys1661=) c.2268G>A (p.Lys756=) c.939G>A (p.Lys313=) c.1987G>A c.*2599G>A (n.*2599G>A) c.11271G>A (p.Lys3757=) c.4980G>A (p.Lys1660=) c.11325G>A (p.Lys3775=) c.11289G>A (p.Lys3763=) c.5037G>A (p.Lys1679=) c.5070G>A (p.Lys1690=) c.5001G>A (p.Lys1667=) c.11265G>A (p.Lys3755=) c.11310G>A (p.Lys3770=) c.4995G>A (p.Lys1665=) c.4962G>A (p.Lys1654=) c.5025G>A (p.Lys1675=) c.4881G>A (p.Lys1627=) c.5061G>A (p.Lys1687=) c.4953G>A (p.Lys1651=) c.4917G>A (p.Lys1639=) c.4932G>A (p.Lys1644=) c.4842G>A (p.Lys1614=) c.4770G>A (p.Lys1590=) c.4854G>A (p.Lys1618=) c.4683G>A (p.Lys1561=) c.11355G>A (p.Lys3785=) c.11241G>A (p.Lys3747=) c.11211G>A (p.Lys3737=) c.11274G>A (p.Lys3758=) c.11004G>A (p.Lys3668=) c.4764G>A (p.Lys1588=) c.4809G>A (p.Lys1603=) c.4968G>A (p.Lys1656=) c.5040G>A (p.Lys1680=) c.4500G>A (p.Lys1500=) c.4827G>A (p.Lys1609=) c.7638G>A (p.Lys2546=) c.1383G>A (p.Lys461=) c.4848G>A (p.Lys1616=) | |
4 | g.113367771G>C | CA357942261 | ANK2 | c.11379G>C (p.Lys3793Asn) c.5064G>C (p.Lys1688Asn) c.1665G>C (p.Lys555Asn) c.2163G>C (p.Lys721Asn) n.2620G>C n.1828G>C n.2572G>C n.1401G>C n.3363G>C n.1344G>C n.1737G>C n.8083G>C n.2709G>C n.693G>C n.3127G>C n.1342G>C c.11238G>C (p.Lys3746Asn) c.11076G>C (p.Lys3692Asn) c.2370G>C (p.Lys790Asn) c.693G>C (p.Lys231Asn) c.4797G>C (p.Lys1599Asn) c.4884G>C (p.Lys1628Asn) c.4821G>C (p.Lys1607Asn) c.5019G>C (p.Lys1673Asn) c.4920G>C (p.Lys1640Asn) c.11112G>C (p.Lys3704Asn) c.4722G>C (p.Lys1574Asn) c.*476G>C (n.*476G>C) c.11055G>C (p.Lys3685Asn) c.4599G>C (p.Lys1533Asn) c.11052G>C (p.Lys3684Asn) c.4698G>C (p.Lys1566Asn) c.11283G>C (p.Lys3761Asn) c.4833G>C (p.Lys1611Asn) c.4818G>C (p.Lys1606Asn) c.11319G>C (p.Lys3773Asn) c.4806G>C (p.Lys1602Asn) c.11040G>C (p.Lys3680Asn) c.4758G>C (p.Lys1586Asn) c.4956G>C (p.Lys1652Asn) c.2547G>C (p.Lys849Asn) c.11139G>C (p.Lys3713Asn) c.5028G>C (p.Lys1676Asn) c.11175G>C (p.Lys3725Asn) c.4785G>C (p.Lys1595Asn) c.10977G>C (p.Lys3659Asn) c.4857G>C (p.Lys1619Asn) c.4401G>C (p.Lys1467Asn) c.2532G>C (p.Lys844Asn) c.10953G>C (p.Lys3651Asn) c.2511G>C (p.Lys837Asn) c.11184G>C (p.Lys3728Asn) c.4749G>C (p.Lys1583Asn) c.4491G>C (p.Lys1497Asn) c.11013G>C (p.Lys3671Asn) c.4983G>C (p.Lys1661Asn) c.2268G>C (p.Lys756Asn) c.939G>C (p.Lys313Asn) c.1987G>C c.*2599G>C (n.*2599G>C) c.11271G>C (p.Lys3757Asn) c.4980G>C (p.Lys1660Asn) c.11325G>C (p.Lys3775Asn) c.11289G>C (p.Lys3763Asn) c.5037G>C (p.Lys1679Asn) c.5070G>C (p.Lys1690Asn) c.5001G>C (p.Lys1667Asn) c.11265G>C (p.Lys3755Asn) c.11310G>C (p.Lys3770Asn) c.4995G>C (p.Lys1665Asn) c.4962G>C (p.Lys1654Asn) c.5025G>C (p.Lys1675Asn) c.4881G>C (p.Lys1627Asn) c.5061G>C (p.Lys1687Asn) c.4953G>C (p.Lys1651Asn) c.4917G>C (p.Lys1639Asn) c.4932G>C (p.Lys1644Asn) c.4842G>C (p.Lys1614Asn) c.4770G>C (p.Lys1590Asn) c.4854G>C (p.Lys1618Asn) c.4683G>C (p.Lys1561Asn) c.11355G>C (p.Lys3785Asn) c.11241G>C (p.Lys3747Asn) c.11211G>C (p.Lys3737Asn) c.11274G>C (p.Lys3758Asn) c.11004G>C (p.Lys3668Asn) c.4764G>C (p.Lys1588Asn) c.4809G>C (p.Lys1603Asn) c.4968G>C (p.Lys1656Asn) c.5040G>C (p.Lys1680Asn) c.4500G>C (p.Lys1500Asn) c.4827G>C (p.Lys1609Asn) c.7638G>C (p.Lys2546Asn) c.1383G>C (p.Lys461Asn) c.4848G>C (p.Lys1616Asn) | |
4 | g.113367771G>T | CA357942262 | ANK2 | c.11379G>T (p.Lys3793Asn) c.5064G>T (p.Lys1688Asn) c.1665G>T (p.Lys555Asn) c.2163G>T (p.Lys721Asn) n.2620G>T n.1828G>T n.2572G>T n.1401G>T n.3363G>T n.1344G>T n.1737G>T n.8083G>T n.2709G>T n.693G>T n.3127G>T n.1342G>T c.11238G>T (p.Lys3746Asn) c.11076G>T (p.Lys3692Asn) c.2370G>T (p.Lys790Asn) c.693G>T (p.Lys231Asn) c.4797G>T (p.Lys1599Asn) c.4884G>T (p.Lys1628Asn) c.4821G>T (p.Lys1607Asn) c.5019G>T (p.Lys1673Asn) c.4920G>T (p.Lys1640Asn) c.11112G>T (p.Lys3704Asn) c.4722G>T (p.Lys1574Asn) c.*476G>T (n.*476G>T) c.11055G>T (p.Lys3685Asn) c.4599G>T (p.Lys1533Asn) c.11052G>T (p.Lys3684Asn) c.4698G>T (p.Lys1566Asn) c.11283G>T (p.Lys3761Asn) c.4833G>T (p.Lys1611Asn) c.4818G>T (p.Lys1606Asn) c.11319G>T (p.Lys3773Asn) c.4806G>T (p.Lys1602Asn) c.11040G>T (p.Lys3680Asn) c.4758G>T (p.Lys1586Asn) c.4956G>T (p.Lys1652Asn) c.2547G>T (p.Lys849Asn) c.11139G>T (p.Lys3713Asn) c.5028G>T (p.Lys1676Asn) c.11175G>T (p.Lys3725Asn) c.4785G>T (p.Lys1595Asn) c.10977G>T (p.Lys3659Asn) c.4857G>T (p.Lys1619Asn) c.4401G>T (p.Lys1467Asn) c.2532G>T (p.Lys844Asn) c.10953G>T (p.Lys3651Asn) c.2511G>T (p.Lys837Asn) c.11184G>T (p.Lys3728Asn) c.4749G>T (p.Lys1583Asn) c.4491G>T (p.Lys1497Asn) c.11013G>T (p.Lys3671Asn) c.4983G>T (p.Lys1661Asn) c.2268G>T (p.Lys756Asn) c.939G>T (p.Lys313Asn) c.1987G>T c.*2599G>T (n.*2599G>T) c.11271G>T (p.Lys3757Asn) c.4980G>T (p.Lys1660Asn) c.11325G>T (p.Lys3775Asn) c.11289G>T (p.Lys3763Asn) c.5037G>T (p.Lys1679Asn) c.5070G>T (p.Lys1690Asn) c.5001G>T (p.Lys1667Asn) c.11265G>T (p.Lys3755Asn) c.11310G>T (p.Lys3770Asn) c.4995G>T (p.Lys1665Asn) c.4962G>T (p.Lys1654Asn) c.5025G>T (p.Lys1675Asn) c.4881G>T (p.Lys1627Asn) c.5061G>T (p.Lys1687Asn) c.4953G>T (p.Lys1651Asn) c.4917G>T (p.Lys1639Asn) c.4932G>T (p.Lys1644Asn) c.4842G>T (p.Lys1614Asn) c.4770G>T (p.Lys1590Asn) c.4854G>T (p.Lys1618Asn) c.4683G>T (p.Lys1561Asn) c.11355G>T (p.Lys3785Asn) c.11241G>T (p.Lys3747Asn) c.11211G>T (p.Lys3737Asn) c.11274G>T (p.Lys3758Asn) c.11004G>T (p.Lys3668Asn) c.4764G>T (p.Lys1588Asn) c.4809G>T (p.Lys1603Asn) c.4968G>T (p.Lys1656Asn) c.5040G>T (p.Lys1680Asn) c.4500G>T (p.Lys1500Asn) c.4827G>T (p.Lys1609Asn) c.7638G>T (p.Lys2546Asn) c.1383G>T (p.Lys461Asn) c.4848G>T (p.Lys1616Asn) | |
4 | g.113367772G>A | CA357942265 | ANK2 | c.11380G>A (p.Glu3794Lys) c.5065G>A (p.Glu1689Lys) c.1666G>A (p.Glu556Lys) c.2164G>A (p.Glu722Lys) n.2621G>A n.1829G>A n.2573G>A n.1402G>A n.3364G>A n.1345G>A n.1738G>A n.8084G>A n.2710G>A n.694G>A n.3128G>A n.1343G>A c.11239G>A (p.Glu3747Lys) c.11077G>A (p.Glu3693Lys) c.2371G>A (p.Glu791Lys) c.694G>A (p.Glu232Lys) c.4798G>A (p.Glu1600Lys) c.4885G>A (p.Glu1629Lys) c.4822G>A (p.Glu1608Lys) c.5020G>A (p.Glu1674Lys) c.4921G>A (p.Glu1641Lys) c.11113G>A (p.Glu3705Lys) c.4723G>A (p.Glu1575Lys) c.*477G>A (n.*477G>A) c.11056G>A (p.Glu3686Lys) c.4600G>A (p.Glu1534Lys) c.11053G>A (p.Glu3685Lys) c.4699G>A (p.Glu1567Lys) c.11284G>A (p.Glu3762Lys) c.4834G>A (p.Glu1612Lys) c.4819G>A (p.Glu1607Lys) c.11320G>A (p.Glu3774Lys) c.4807G>A (p.Glu1603Lys) c.11041G>A (p.Glu3681Lys) c.4759G>A (p.Glu1587Lys) c.4957G>A (p.Glu1653Lys) c.2548G>A (p.Glu850Lys) c.11140G>A (p.Glu3714Lys) c.5029G>A (p.Glu1677Lys) c.11176G>A (p.Glu3726Lys) c.4786G>A (p.Glu1596Lys) c.10978G>A (p.Glu3660Lys) c.4858G>A (p.Glu1620Lys) c.4402G>A (p.Glu1468Lys) c.2533G>A (p.Glu845Lys) c.10954G>A (p.Glu3652Lys) c.2512G>A (p.Glu838Lys) c.11185G>A (p.Glu3729Lys) c.4750G>A (p.Glu1584Lys) c.4492G>A (p.Glu1498Lys) c.11014G>A (p.Glu3672Lys) c.4984G>A (p.Glu1662Lys) c.2269G>A (p.Glu757Lys) c.940G>A (p.Glu314Lys) c.1988G>A c.*2600G>A (n.*2600G>A) c.11272G>A (p.Glu3758Lys) c.4981G>A (p.Glu1661Lys) c.11326G>A (p.Glu3776Lys) c.11290G>A (p.Glu3764Lys) c.5038G>A (p.Glu1680Lys) c.5071G>A (p.Glu1691Lys) c.5002G>A (p.Glu1668Lys) c.11266G>A (p.Glu3756Lys) c.11311G>A (p.Glu3771Lys) c.4996G>A (p.Glu1666Lys) c.4963G>A (p.Glu1655Lys) c.5026G>A (p.Glu1676Lys) c.4882G>A (p.Glu1628Lys) c.5062G>A (p.Glu1688Lys) c.4954G>A (p.Glu1652Lys) c.4918G>A (p.Glu1640Lys) c.4933G>A (p.Glu1645Lys) c.4843G>A (p.Glu1615Lys) c.4771G>A (p.Glu1591Lys) c.4855G>A (p.Glu1619Lys) c.4684G>A (p.Glu1562Lys) c.11356G>A (p.Glu3786Lys) c.11242G>A (p.Glu3748Lys) c.11212G>A (p.Glu3738Lys) c.11275G>A (p.Glu3759Lys) c.11005G>A (p.Glu3669Lys) c.4765G>A (p.Glu1589Lys) c.4810G>A (p.Glu1604Lys) c.4969G>A (p.Glu1657Lys) c.5041G>A (p.Glu1681Lys) c.4501G>A (p.Glu1501Lys) c.4828G>A (p.Glu1610Lys) c.7639G>A (p.Glu2547Lys) c.1384G>A (p.Glu462Lys) c.4849G>A (p.Glu1617Lys) | |
4 | g.113367772G>C | CA357942263 | ANK2 | c.11380G>C (p.Glu3794Gln) c.5065G>C (p.Glu1689Gln) c.1666G>C (p.Glu556Gln) c.2164G>C (p.Glu722Gln) n.2621G>C n.1829G>C n.2573G>C n.1402G>C n.3364G>C n.1345G>C n.1738G>C n.8084G>C n.2710G>C n.694G>C n.3128G>C n.1343G>C c.11239G>C (p.Glu3747Gln) c.11077G>C (p.Glu3693Gln) c.2371G>C (p.Glu791Gln) c.694G>C (p.Glu232Gln) c.4798G>C (p.Glu1600Gln) c.4885G>C (p.Glu1629Gln) c.4822G>C (p.Glu1608Gln) c.5020G>C (p.Glu1674Gln) c.4921G>C (p.Glu1641Gln) c.11113G>C (p.Glu3705Gln) c.4723G>C (p.Glu1575Gln) c.*477G>C (n.*477G>C) c.11056G>C (p.Glu3686Gln) c.4600G>C (p.Glu1534Gln) c.11053G>C (p.Glu3685Gln) c.4699G>C (p.Glu1567Gln) c.11284G>C (p.Glu3762Gln) c.4834G>C (p.Glu1612Gln) c.4819G>C (p.Glu1607Gln) c.11320G>C (p.Glu3774Gln) c.4807G>C (p.Glu1603Gln) c.11041G>C (p.Glu3681Gln) c.4759G>C (p.Glu1587Gln) c.4957G>C (p.Glu1653Gln) c.2548G>C (p.Glu850Gln) c.11140G>C (p.Glu3714Gln) c.5029G>C (p.Glu1677Gln) c.11176G>C (p.Glu3726Gln) c.4786G>C (p.Glu1596Gln) c.10978G>C (p.Glu3660Gln) c.4858G>C (p.Glu1620Gln) c.4402G>C (p.Glu1468Gln) c.2533G>C (p.Glu845Gln) c.10954G>C (p.Glu3652Gln) c.2512G>C (p.Glu838Gln) c.11185G>C (p.Glu3729Gln) c.4750G>C (p.Glu1584Gln) c.4492G>C (p.Glu1498Gln) c.11014G>C (p.Glu3672Gln) c.4984G>C (p.Glu1662Gln) c.2269G>C (p.Glu757Gln) c.940G>C (p.Glu314Gln) c.1988G>C c.*2600G>C (n.*2600G>C) c.11272G>C (p.Glu3758Gln) c.4981G>C (p.Glu1661Gln) c.11326G>C (p.Glu3776Gln) c.11290G>C (p.Glu3764Gln) c.5038G>C (p.Glu1680Gln) c.5071G>C (p.Glu1691Gln) c.5002G>C (p.Glu1668Gln) c.11266G>C (p.Glu3756Gln) c.11311G>C (p.Glu3771Gln) c.4996G>C (p.Glu1666Gln) c.4963G>C (p.Glu1655Gln) c.5026G>C (p.Glu1676Gln) c.4882G>C (p.Glu1628Gln) c.5062G>C (p.Glu1688Gln) c.4954G>C (p.Glu1652Gln) c.4918G>C (p.Glu1640Gln) c.4933G>C (p.Glu1645Gln) c.4843G>C (p.Glu1615Gln) c.4771G>C (p.Glu1591Gln) c.4855G>C (p.Glu1619Gln) c.4684G>C (p.Glu1562Gln) c.11356G>C (p.Glu3786Gln) c.11242G>C (p.Glu3748Gln) c.11212G>C (p.Glu3738Gln) c.11275G>C (p.Glu3759Gln) c.11005G>C (p.Glu3669Gln) c.4765G>C (p.Glu1589Gln) c.4810G>C (p.Glu1604Gln) c.4969G>C (p.Glu1657Gln) c.5041G>C (p.Glu1681Gln) c.4501G>C (p.Glu1501Gln) c.4828G>C (p.Glu1610Gln) c.7639G>C (p.Glu2547Gln) c.1384G>C (p.Glu462Gln) c.4849G>C (p.Glu1617Gln) | |
4 | g.113367772G>T | CA357942264 | ANK2 | c.11380G>T (p.Glu3794Ter) c.5065G>T (p.Glu1689Ter) c.1666G>T (p.Glu556Ter) c.2164G>T (p.Glu722Ter) n.2621G>T n.1829G>T n.2573G>T n.1402G>T n.3364G>T n.1345G>T n.1738G>T n.8084G>T n.2710G>T n.694G>T n.3128G>T n.1343G>T c.11239G>T (p.Glu3747Ter) c.11077G>T (p.Glu3693Ter) c.2371G>T (p.Glu791Ter) c.694G>T (p.Glu232Ter) c.4798G>T (p.Glu1600Ter) c.4885G>T (p.Glu1629Ter) c.4822G>T (p.Glu1608Ter) c.5020G>T (p.Glu1674Ter) c.4921G>T (p.Glu1641Ter) c.11113G>T (p.Glu3705Ter) c.4723G>T (p.Glu1575Ter) c.*477G>T (n.*477G>T) c.11056G>T (p.Glu3686Ter) c.4600G>T (p.Glu1534Ter) c.11053G>T (p.Glu3685Ter) c.4699G>T (p.Glu1567Ter) c.11284G>T (p.Glu3762Ter) c.4834G>T (p.Glu1612Ter) c.4819G>T (p.Glu1607Ter) c.11320G>T (p.Glu3774Ter) c.4807G>T (p.Glu1603Ter) c.11041G>T (p.Glu3681Ter) c.4759G>T (p.Glu1587Ter) c.4957G>T (p.Glu1653Ter) c.2548G>T (p.Glu850Ter) c.11140G>T (p.Glu3714Ter) c.5029G>T (p.Glu1677Ter) c.11176G>T (p.Glu3726Ter) c.4786G>T (p.Glu1596Ter) c.10978G>T (p.Glu3660Ter) c.4858G>T (p.Glu1620Ter) c.4402G>T (p.Glu1468Ter) c.2533G>T (p.Glu845Ter) c.10954G>T (p.Glu3652Ter) c.2512G>T (p.Glu838Ter) c.11185G>T (p.Glu3729Ter) c.4750G>T (p.Glu1584Ter) c.4492G>T (p.Glu1498Ter) c.11014G>T (p.Glu3672Ter) c.4984G>T (p.Glu1662Ter) c.2269G>T (p.Glu757Ter) c.940G>T (p.Glu314Ter) c.1988G>T c.*2600G>T (n.*2600G>T) c.11272G>T (p.Glu3758Ter) c.4981G>T (p.Glu1661Ter) c.11326G>T (p.Glu3776Ter) c.11290G>T (p.Glu3764Ter) c.5038G>T (p.Glu1680Ter) c.5071G>T (p.Glu1691Ter) c.5002G>T (p.Glu1668Ter) c.11266G>T (p.Glu3756Ter) c.11311G>T (p.Glu3771Ter) c.4996G>T (p.Glu1666Ter) c.4963G>T (p.Glu1655Ter) c.5026G>T (p.Glu1676Ter) c.4882G>T (p.Glu1628Ter) c.5062G>T (p.Glu1688Ter) c.4954G>T (p.Glu1652Ter) c.4918G>T (p.Glu1640Ter) c.4933G>T (p.Glu1645Ter) c.4843G>T (p.Glu1615Ter) c.4771G>T (p.Glu1591Ter) c.4855G>T (p.Glu1619Ter) c.4684G>T (p.Glu1562Ter) c.11356G>T (p.Glu3786Ter) c.11242G>T (p.Glu3748Ter) c.11212G>T (p.Glu3738Ter) c.11275G>T (p.Glu3759Ter) c.11005G>T (p.Glu3669Ter) c.4765G>T (p.Glu1589Ter) c.4810G>T (p.Glu1604Ter) c.4969G>T (p.Glu1657Ter) c.5041G>T (p.Glu1681Ter) c.4501G>T (p.Glu1501Ter) c.4828G>T (p.Glu1610Ter) c.7639G>T (p.Glu2547Ter) c.1384G>T (p.Glu462Ter) c.4849G>T (p.Glu1617Ter) | |
4 | g.113367773A>C | CA357942266 | ANK2 | c.11381A>C (p.Glu3794Ala) c.5066A>C (p.Glu1689Ala) c.1667A>C (p.Glu556Ala) c.2165A>C (p.Glu722Ala) n.2622A>C n.1830A>C n.2574A>C n.1403A>C n.3365A>C n.1346A>C n.1739A>C n.8085A>C n.2711A>C n.695A>C n.3129A>C n.1344A>C c.11240A>C (p.Glu3747Ala) c.11078A>C (p.Glu3693Ala) c.2372A>C (p.Glu791Ala) c.695A>C (p.Glu232Ala) c.4799A>C (p.Glu1600Ala) c.4886A>C (p.Glu1629Ala) c.4823A>C (p.Glu1608Ala) c.5021A>C (p.Glu1674Ala) c.4922A>C (p.Glu1641Ala) c.11114A>C (p.Glu3705Ala) c.4724A>C (p.Glu1575Ala) c.*478A>C (n.*478A>C) c.11057A>C (p.Glu3686Ala) c.4601A>C (p.Glu1534Ala) c.11054A>C (p.Glu3685Ala) c.4700A>C (p.Glu1567Ala) c.11285A>C (p.Glu3762Ala) c.4835A>C (p.Glu1612Ala) c.4820A>C (p.Glu1607Ala) c.11321A>C (p.Glu3774Ala) c.4808A>C (p.Glu1603Ala) c.11042A>C (p.Glu3681Ala) c.4760A>C (p.Glu1587Ala) c.4958A>C (p.Glu1653Ala) c.2549A>C (p.Glu850Ala) c.11141A>C (p.Glu3714Ala) c.5030A>C (p.Glu1677Ala) c.11177A>C (p.Glu3726Ala) c.4787A>C (p.Glu1596Ala) c.10979A>C (p.Glu3660Ala) c.4859A>C (p.Glu1620Ala) c.4403A>C (p.Glu1468Ala) c.2534A>C (p.Glu845Ala) c.10955A>C (p.Glu3652Ala) c.2513A>C (p.Glu838Ala) c.11186A>C (p.Glu3729Ala) c.4751A>C (p.Glu1584Ala) c.4493A>C (p.Glu1498Ala) c.11015A>C (p.Glu3672Ala) c.4985A>C (p.Glu1662Ala) c.2270A>C (p.Glu757Ala) c.941A>C (p.Glu314Ala) c.1989A>C c.*2601A>C (n.*2601A>C) c.11273A>C (p.Glu3758Ala) c.4982A>C (p.Glu1661Ala) c.11327A>C (p.Glu3776Ala) c.11291A>C (p.Glu3764Ala) c.5039A>C (p.Glu1680Ala) c.5072A>C (p.Glu1691Ala) c.5003A>C (p.Glu1668Ala) c.11267A>C (p.Glu3756Ala) c.11312A>C (p.Glu3771Ala) c.4997A>C (p.Glu1666Ala) c.4964A>C (p.Glu1655Ala) c.5027A>C (p.Glu1676Ala) c.4883A>C (p.Glu1628Ala) c.5063A>C (p.Glu1688Ala) c.4955A>C (p.Glu1652Ala) c.4919A>C (p.Glu1640Ala) c.4934A>C (p.Glu1645Ala) c.4844A>C (p.Glu1615Ala) c.4772A>C (p.Glu1591Ala) c.4856A>C (p.Glu1619Ala) c.4685A>C (p.Glu1562Ala) c.11357A>C (p.Glu3786Ala) c.11243A>C (p.Glu3748Ala) c.11213A>C (p.Glu3738Ala) c.11276A>C (p.Glu3759Ala) c.11006A>C (p.Glu3669Ala) c.4766A>C (p.Glu1589Ala) c.4811A>C (p.Glu1604Ala) c.4970A>C (p.Glu1657Ala) c.5042A>C (p.Glu1681Ala) c.4502A>C (p.Glu1501Ala) c.4829A>C (p.Glu1610Ala) c.7640A>C (p.Glu2547Ala) c.1385A>C (p.Glu462Ala) c.4850A>C (p.Glu1617Ala) | |
4 | g.113367773A>G | CA357942267 | ANK2 | c.11381A>G (p.Glu3794Gly) c.5066A>G (p.Glu1689Gly) c.1667A>G (p.Glu556Gly) c.2165A>G (p.Glu722Gly) n.2622A>G n.1830A>G n.2574A>G n.1403A>G n.3365A>G n.1346A>G n.1739A>G n.8085A>G n.2711A>G n.695A>G n.3129A>G n.1344A>G c.11240A>G (p.Glu3747Gly) c.11078A>G (p.Glu3693Gly) c.2372A>G (p.Glu791Gly) c.695A>G (p.Glu232Gly) c.4799A>G (p.Glu1600Gly) c.4886A>G (p.Glu1629Gly) c.4823A>G (p.Glu1608Gly) c.5021A>G (p.Glu1674Gly) c.4922A>G (p.Glu1641Gly) c.11114A>G (p.Glu3705Gly) c.4724A>G (p.Glu1575Gly) c.*478A>G (n.*478A>G) c.11057A>G (p.Glu3686Gly) c.4601A>G (p.Glu1534Gly) c.11054A>G (p.Glu3685Gly) c.4700A>G (p.Glu1567Gly) c.11285A>G (p.Glu3762Gly) c.4835A>G (p.Glu1612Gly) c.4820A>G (p.Glu1607Gly) c.11321A>G (p.Glu3774Gly) c.4808A>G (p.Glu1603Gly) c.11042A>G (p.Glu3681Gly) c.4760A>G (p.Glu1587Gly) c.4958A>G (p.Glu1653Gly) c.2549A>G (p.Glu850Gly) c.11141A>G (p.Glu3714Gly) c.5030A>G (p.Glu1677Gly) c.11177A>G (p.Glu3726Gly) c.4787A>G (p.Glu1596Gly) c.10979A>G (p.Glu3660Gly) c.4859A>G (p.Glu1620Gly) c.4403A>G (p.Glu1468Gly) c.2534A>G (p.Glu845Gly) c.10955A>G (p.Glu3652Gly) c.2513A>G (p.Glu838Gly) c.11186A>G (p.Glu3729Gly) c.4751A>G (p.Glu1584Gly) c.4493A>G (p.Glu1498Gly) c.11015A>G (p.Glu3672Gly) c.4985A>G (p.Glu1662Gly) c.2270A>G (p.Glu757Gly) c.941A>G (p.Glu314Gly) c.1989A>G c.*2601A>G (n.*2601A>G) c.11273A>G (p.Glu3758Gly) c.4982A>G (p.Glu1661Gly) c.11327A>G (p.Glu3776Gly) c.11291A>G (p.Glu3764Gly) c.5039A>G (p.Glu1680Gly) c.5072A>G (p.Glu1691Gly) c.5003A>G (p.Glu1668Gly) c.11267A>G (p.Glu3756Gly) c.11312A>G (p.Glu3771Gly) c.4997A>G (p.Glu1666Gly) c.4964A>G (p.Glu1655Gly) c.5027A>G (p.Glu1676Gly) c.4883A>G (p.Glu1628Gly) c.5063A>G (p.Glu1688Gly) c.4955A>G (p.Glu1652Gly) c.4919A>G (p.Glu1640Gly) c.4934A>G (p.Glu1645Gly) c.4844A>G (p.Glu1615Gly) c.4772A>G (p.Glu1591Gly) c.4856A>G (p.Glu1619Gly) c.4685A>G (p.Glu1562Gly) c.11357A>G (p.Glu3786Gly) c.11243A>G (p.Glu3748Gly) c.11213A>G (p.Glu3738Gly) c.11276A>G (p.Glu3759Gly) c.11006A>G (p.Glu3669Gly) c.4766A>G (p.Glu1589Gly) c.4811A>G (p.Glu1604Gly) c.4970A>G (p.Glu1657Gly) c.5042A>G (p.Glu1681Gly) c.4502A>G (p.Glu1501Gly) c.4829A>G (p.Glu1610Gly) c.7640A>G (p.Glu2547Gly) c.1385A>G (p.Glu462Gly) c.4850A>G (p.Glu1617Gly) | dbSNP |
4 | g.113367773A>T | CA357942268 | ANK2 | c.11381A>T (p.Glu3794Val) c.5066A>T (p.Glu1689Val) c.1667A>T (p.Glu556Val) c.2165A>T (p.Glu722Val) n.2622A>T n.1830A>T n.2574A>T n.1403A>T n.3365A>T n.1346A>T n.1739A>T n.8085A>T n.2711A>T n.695A>T n.3129A>T n.1344A>T c.11240A>T (p.Glu3747Val) c.11078A>T (p.Glu3693Val) c.2372A>T (p.Glu791Val) c.695A>T (p.Glu232Val) c.4799A>T (p.Glu1600Val) c.4886A>T (p.Glu1629Val) c.4823A>T (p.Glu1608Val) c.5021A>T (p.Glu1674Val) c.4922A>T (p.Glu1641Val) c.11114A>T (p.Glu3705Val) c.4724A>T (p.Glu1575Val) c.*478A>T (n.*478A>T) c.11057A>T (p.Glu3686Val) c.4601A>T (p.Glu1534Val) c.11054A>T (p.Glu3685Val) c.4700A>T (p.Glu1567Val) c.11285A>T (p.Glu3762Val) c.4835A>T (p.Glu1612Val) c.4820A>T (p.Glu1607Val) c.11321A>T (p.Glu3774Val) c.4808A>T (p.Glu1603Val) c.11042A>T (p.Glu3681Val) c.4760A>T (p.Glu1587Val) c.4958A>T (p.Glu1653Val) c.2549A>T (p.Glu850Val) c.11141A>T (p.Glu3714Val) c.5030A>T (p.Glu1677Val) c.11177A>T (p.Glu3726Val) c.4787A>T (p.Glu1596Val) c.10979A>T (p.Glu3660Val) c.4859A>T (p.Glu1620Val) c.4403A>T (p.Glu1468Val) c.2534A>T (p.Glu845Val) c.10955A>T (p.Glu3652Val) c.2513A>T (p.Glu838Val) c.11186A>T (p.Glu3729Val) c.4751A>T (p.Glu1584Val) c.4493A>T (p.Glu1498Val) c.11015A>T (p.Glu3672Val) c.4985A>T (p.Glu1662Val) c.2270A>T (p.Glu757Val) c.941A>T (p.Glu314Val) c.1989A>T c.*2601A>T (n.*2601A>T) c.11273A>T (p.Glu3758Val) c.4982A>T (p.Glu1661Val) c.11327A>T (p.Glu3776Val) c.11291A>T (p.Glu3764Val) c.5039A>T (p.Glu1680Val) c.5072A>T (p.Glu1691Val) c.5003A>T (p.Glu1668Val) c.11267A>T (p.Glu3756Val) c.11312A>T (p.Glu3771Val) c.4997A>T (p.Glu1666Val) c.4964A>T (p.Glu1655Val) c.5027A>T (p.Glu1676Val) c.4883A>T (p.Glu1628Val) c.5063A>T (p.Glu1688Val) c.4955A>T (p.Glu1652Val) c.4919A>T (p.Glu1640Val) c.4934A>T (p.Glu1645Val) c.4844A>T (p.Glu1615Val) c.4772A>T (p.Glu1591Val) c.4856A>T (p.Glu1619Val) c.4685A>T (p.Glu1562Val) c.11357A>T (p.Glu3786Val) c.11243A>T (p.Glu3748Val) c.11213A>T (p.Glu3738Val) c.11276A>T (p.Glu3759Val) c.11006A>T (p.Glu3669Val) c.4766A>T (p.Glu1589Val) c.4811A>T (p.Glu1604Val) c.4970A>T (p.Glu1657Val) c.5042A>T (p.Glu1681Val) c.4502A>T (p.Glu1501Val) c.4829A>T (p.Glu1610Val) c.7640A>T (p.Glu2547Val) c.1385A>T (p.Glu462Val) c.4850A>T (p.Glu1617Val) | |
4 | g.113367774G>A | CA440833267 | ANK2 | c.11382G>A (p.Glu3794=) c.5067G>A (p.Glu1689=) c.1668G>A (p.Glu556=) c.2166G>A (p.Glu722=) n.2623G>A n.1831G>A n.2575G>A n.1404G>A n.3366G>A n.1347G>A n.1740G>A n.8086G>A n.2712G>A n.696G>A n.3130G>A n.1345G>A c.11241G>A (p.Glu3747=) c.11079G>A (p.Glu3693=) c.2373G>A (p.Glu791=) c.696G>A (p.Glu232=) c.4800G>A (p.Glu1600=) c.4887G>A (p.Glu1629=) c.4824G>A (p.Glu1608=) c.5022G>A (p.Glu1674=) c.4923G>A (p.Glu1641=) c.11115G>A (p.Glu3705=) c.4725G>A (p.Glu1575=) c.*479G>A (n.*479G>A) c.11058G>A (p.Glu3686=) c.4602G>A (p.Glu1534=) c.11055G>A (p.Glu3685=) c.4701G>A (p.Glu1567=) c.11286G>A (p.Glu3762=) c.4836G>A (p.Glu1612=) c.4821G>A (p.Glu1607=) c.11322G>A (p.Glu3774=) c.4809G>A (p.Glu1603=) c.11043G>A (p.Glu3681=) c.4761G>A (p.Glu1587=) c.4959G>A (p.Glu1653=) c.2550G>A (p.Glu850=) c.11142G>A (p.Glu3714=) c.5031G>A (p.Glu1677=) c.11178G>A (p.Glu3726=) c.4788G>A (p.Glu1596=) c.10980G>A (p.Glu3660=) c.4860G>A (p.Glu1620=) c.4404G>A (p.Glu1468=) c.2535G>A (p.Glu845=) c.10956G>A (p.Glu3652=) c.2514G>A (p.Glu838=) c.11187G>A (p.Glu3729=) c.4752G>A (p.Glu1584=) c.4494G>A (p.Glu1498=) c.11016G>A (p.Glu3672=) c.4986G>A (p.Glu1662=) c.2271G>A (p.Glu757=) c.942G>A (p.Glu314=) c.1990G>A c.*2602G>A (n.*2602G>A) c.11274G>A (p.Glu3758=) c.4983G>A (p.Glu1661=) c.11328G>A (p.Glu3776=) c.11292G>A (p.Glu3764=) c.5040G>A (p.Glu1680=) c.5073G>A (p.Glu1691=) c.5004G>A (p.Glu1668=) c.11268G>A (p.Glu3756=) c.11313G>A (p.Glu3771=) c.4998G>A (p.Glu1666=) c.4965G>A (p.Glu1655=) c.5028G>A (p.Glu1676=) c.4884G>A (p.Glu1628=) c.5064G>A (p.Glu1688=) c.4956G>A (p.Glu1652=) c.4920G>A (p.Glu1640=) c.4935G>A (p.Glu1645=) c.4845G>A (p.Glu1615=) c.4773G>A (p.Glu1591=) c.4857G>A (p.Glu1619=) c.4686G>A (p.Glu1562=) c.11358G>A (p.Glu3786=) c.11244G>A (p.Glu3748=) c.11214G>A (p.Glu3738=) c.11277G>A (p.Glu3759=) c.11007G>A (p.Glu3669=) c.4767G>A (p.Glu1589=) c.4812G>A (p.Glu1604=) c.4971G>A (p.Glu1657=) c.5043G>A (p.Glu1681=) c.4503G>A (p.Glu1501=) c.4830G>A (p.Glu1610=) c.7641G>A (p.Glu2547=) c.1386G>A (p.Glu462=) c.4851G>A (p.Glu1617=) | |
4 | g.113367774G>C | CA357942269 | ANK2 | c.11382G>C (p.Glu3794Asp) c.5067G>C (p.Glu1689Asp) c.1668G>C (p.Glu556Asp) c.2166G>C (p.Glu722Asp) n.2623G>C n.1831G>C n.2575G>C n.1404G>C n.3366G>C n.1347G>C n.1740G>C n.8086G>C n.2712G>C n.696G>C n.3130G>C n.1345G>C c.11241G>C (p.Glu3747Asp) c.11079G>C (p.Glu3693Asp) c.2373G>C (p.Glu791Asp) c.696G>C (p.Glu232Asp) c.4800G>C (p.Glu1600Asp) c.4887G>C (p.Glu1629Asp) c.4824G>C (p.Glu1608Asp) c.5022G>C (p.Glu1674Asp) c.4923G>C (p.Glu1641Asp) c.11115G>C (p.Glu3705Asp) c.4725G>C (p.Glu1575Asp) c.*479G>C (n.*479G>C) c.11058G>C (p.Glu3686Asp) c.4602G>C (p.Glu1534Asp) c.11055G>C (p.Glu3685Asp) c.4701G>C (p.Glu1567Asp) c.11286G>C (p.Glu3762Asp) c.4836G>C (p.Glu1612Asp) c.4821G>C (p.Glu1607Asp) c.11322G>C (p.Glu3774Asp) c.4809G>C (p.Glu1603Asp) c.11043G>C (p.Glu3681Asp) c.4761G>C (p.Glu1587Asp) c.4959G>C (p.Glu1653Asp) c.2550G>C (p.Glu850Asp) c.11142G>C (p.Glu3714Asp) c.5031G>C (p.Glu1677Asp) c.11178G>C (p.Glu3726Asp) c.4788G>C (p.Glu1596Asp) c.10980G>C (p.Glu3660Asp) c.4860G>C (p.Glu1620Asp) c.4404G>C (p.Glu1468Asp) c.2535G>C (p.Glu845Asp) c.10956G>C (p.Glu3652Asp) c.2514G>C (p.Glu838Asp) c.11187G>C (p.Glu3729Asp) c.4752G>C (p.Glu1584Asp) c.4494G>C (p.Glu1498Asp) c.11016G>C (p.Glu3672Asp) c.4986G>C (p.Glu1662Asp) c.2271G>C (p.Glu757Asp) c.942G>C (p.Glu314Asp) c.1990G>C c.*2602G>C (n.*2602G>C) c.11274G>C (p.Glu3758Asp) c.4983G>C (p.Glu1661Asp) c.11328G>C (p.Glu3776Asp) c.11292G>C (p.Glu3764Asp) c.5040G>C (p.Glu1680Asp) c.5073G>C (p.Glu1691Asp) c.5004G>C (p.Glu1668Asp) c.11268G>C (p.Glu3756Asp) c.11313G>C (p.Glu3771Asp) c.4998G>C (p.Glu1666Asp) c.4965G>C (p.Glu1655Asp) c.5028G>C (p.Glu1676Asp) c.4884G>C (p.Glu1628Asp) c.5064G>C (p.Glu1688Asp) c.4956G>C (p.Glu1652Asp) c.4920G>C (p.Glu1640Asp) c.4935G>C (p.Glu1645Asp) c.4845G>C (p.Glu1615Asp) c.4773G>C (p.Glu1591Asp) c.4857G>C (p.Glu1619Asp) c.4686G>C (p.Glu1562Asp) c.11358G>C (p.Glu3786Asp) c.11244G>C (p.Glu3748Asp) c.11214G>C (p.Glu3738Asp) c.11277G>C (p.Glu3759Asp) c.11007G>C (p.Glu3669Asp) c.4767G>C (p.Glu1589Asp) c.4812G>C (p.Glu1604Asp) c.4971G>C (p.Glu1657Asp) c.5043G>C (p.Glu1681Asp) c.4503G>C (p.Glu1501Asp) c.4830G>C (p.Glu1610Asp) c.7641G>C (p.Glu2547Asp) c.1386G>C (p.Glu462Asp) c.4851G>C (p.Glu1617Asp) | |
4 | g.113367774G>T | CA357942270 | ANK2 | c.11382G>T (p.Glu3794Asp) c.5067G>T (p.Glu1689Asp) c.1668G>T (p.Glu556Asp) c.2166G>T (p.Glu722Asp) n.2623G>T n.1831G>T n.2575G>T n.1404G>T n.3366G>T n.1347G>T n.1740G>T n.8086G>T n.2712G>T n.696G>T n.3130G>T n.1345G>T c.11241G>T (p.Glu3747Asp) c.11079G>T (p.Glu3693Asp) c.2373G>T (p.Glu791Asp) c.696G>T (p.Glu232Asp) c.4800G>T (p.Glu1600Asp) c.4887G>T (p.Glu1629Asp) c.4824G>T (p.Glu1608Asp) c.5022G>T (p.Glu1674Asp) c.4923G>T (p.Glu1641Asp) c.11115G>T (p.Glu3705Asp) c.4725G>T (p.Glu1575Asp) c.*479G>T (n.*479G>T) c.11058G>T (p.Glu3686Asp) c.4602G>T (p.Glu1534Asp) c.11055G>T (p.Glu3685Asp) c.4701G>T (p.Glu1567Asp) c.11286G>T (p.Glu3762Asp) c.4836G>T (p.Glu1612Asp) c.4821G>T (p.Glu1607Asp) c.11322G>T (p.Glu3774Asp) c.4809G>T (p.Glu1603Asp) c.11043G>T (p.Glu3681Asp) c.4761G>T (p.Glu1587Asp) c.4959G>T (p.Glu1653Asp) c.2550G>T (p.Glu850Asp) c.11142G>T (p.Glu3714Asp) c.5031G>T (p.Glu1677Asp) c.11178G>T (p.Glu3726Asp) c.4788G>T (p.Glu1596Asp) c.10980G>T (p.Glu3660Asp) c.4860G>T (p.Glu1620Asp) c.4404G>T (p.Glu1468Asp) c.2535G>T (p.Glu845Asp) c.10956G>T (p.Glu3652Asp) c.2514G>T (p.Glu838Asp) c.11187G>T (p.Glu3729Asp) c.4752G>T (p.Glu1584Asp) c.4494G>T (p.Glu1498Asp) c.11016G>T (p.Glu3672Asp) c.4986G>T (p.Glu1662Asp) c.2271G>T (p.Glu757Asp) c.942G>T (p.Glu314Asp) c.1990G>T c.*2602G>T (n.*2602G>T) c.11274G>T (p.Glu3758Asp) c.4983G>T (p.Glu1661Asp) c.11328G>T (p.Glu3776Asp) c.11292G>T (p.Glu3764Asp) c.5040G>T (p.Glu1680Asp) c.5073G>T (p.Glu1691Asp) c.5004G>T (p.Glu1668Asp) c.11268G>T (p.Glu3756Asp) c.11313G>T (p.Glu3771Asp) c.4998G>T (p.Glu1666Asp) c.4965G>T (p.Glu1655Asp) c.5028G>T (p.Glu1676Asp) c.4884G>T (p.Glu1628Asp) c.5064G>T (p.Glu1688Asp) c.4956G>T (p.Glu1652Asp) c.4920G>T (p.Glu1640Asp) c.4935G>T (p.Glu1645Asp) c.4845G>T (p.Glu1615Asp) c.4773G>T (p.Glu1591Asp) c.4857G>T (p.Glu1619Asp) c.4686G>T (p.Glu1562Asp) c.11358G>T (p.Glu3786Asp) c.11244G>T (p.Glu3748Asp) c.11214G>T (p.Glu3738Asp) c.11277G>T (p.Glu3759Asp) c.11007G>T (p.Glu3669Asp) c.4767G>T (p.Glu1589Asp) c.4812G>T (p.Glu1604Asp) c.4971G>T (p.Glu1657Asp) c.5043G>T (p.Glu1681Asp) c.4503G>T (p.Glu1501Asp) c.4830G>T (p.Glu1610Asp) c.7641G>T (p.Glu2547Asp) c.1386G>T (p.Glu462Asp) c.4851G>T (p.Glu1617Asp) | |
4 | g.113367775C>A | CA3052249 | ANK2 | c.11383C>A (p.Gln3795Lys) c.5068C>A (p.Gln1690Lys) c.1669C>A (p.Gln557Lys) c.2167C>A (p.Gln723Lys) n.2624C>A n.1832C>A n.2576C>A n.1405C>A n.3367C>A n.1348C>A n.1741C>A n.8087C>A n.2713C>A n.697C>A n.3131C>A n.1346C>A c.11242C>A (p.Gln3748Lys) c.11080C>A (p.Gln3694Lys) c.2374C>A (p.Gln792Lys) c.697C>A (p.Gln233Lys) c.4801C>A (p.Gln1601Lys) c.4888C>A (p.Gln1630Lys) c.4825C>A (p.Gln1609Lys) c.5023C>A (p.Gln1675Lys) c.4924C>A (p.Gln1642Lys) c.11116C>A (p.Gln3706Lys) c.4726C>A (p.Gln1576Lys) c.*480C>A (n.*480C>A) c.11059C>A (p.Gln3687Lys) c.4603C>A (p.Gln1535Lys) c.11056C>A (p.Gln3686Lys) c.4702C>A (p.Gln1568Lys) c.11287C>A (p.Gln3763Lys) c.4837C>A (p.Gln1613Lys) c.4822C>A (p.Gln1608Lys) c.11323C>A (p.Gln3775Lys) c.4810C>A (p.Gln1604Lys) c.11044C>A (p.Gln3682Lys) c.4762C>A (p.Gln1588Lys) c.4960C>A (p.Gln1654Lys) c.2551C>A (p.Gln851Lys) c.11143C>A (p.Gln3715Lys) c.5032C>A (p.Gln1678Lys) c.11179C>A (p.Gln3727Lys) c.4789C>A (p.Gln1597Lys) c.10981C>A (p.Gln3661Lys) c.4861C>A (p.Gln1621Lys) c.4405C>A (p.Gln1469Lys) c.2536C>A (p.Gln846Lys) c.10957C>A (p.Gln3653Lys) c.2515C>A (p.Gln839Lys) c.11188C>A (p.Gln3730Lys) c.4753C>A (p.Gln1585Lys) c.4495C>A (p.Gln1499Lys) c.11017C>A (p.Gln3673Lys) c.4987C>A (p.Gln1663Lys) c.2272C>A (p.Gln758Lys) c.943C>A (p.Gln315Lys) c.1991C>A c.*2603C>A (n.*2603C>A) c.11275C>A (p.Gln3759Lys) c.4984C>A (p.Gln1662Lys) c.11329C>A (p.Gln3777Lys) c.11293C>A (p.Gln3765Lys) c.5041C>A (p.Gln1681Lys) c.5074C>A (p.Gln1692Lys) c.5005C>A (p.Gln1669Lys) c.11269C>A (p.Gln3757Lys) c.11314C>A (p.Gln3772Lys) c.4999C>A (p.Gln1667Lys) c.4966C>A (p.Gln1656Lys) c.5029C>A (p.Gln1677Lys) c.4885C>A (p.Gln1629Lys) c.5065C>A (p.Gln1689Lys) c.4957C>A (p.Gln1653Lys) c.4921C>A (p.Gln1641Lys) c.4936C>A (p.Gln1646Lys) c.4846C>A (p.Gln1616Lys) c.4774C>A (p.Gln1592Lys) c.4858C>A (p.Gln1620Lys) c.4687C>A (p.Gln1563Lys) c.11359C>A (p.Gln3787Lys) c.11245C>A (p.Gln3749Lys) c.11215C>A (p.Gln3739Lys) c.11278C>A (p.Gln3760Lys) c.11008C>A (p.Gln3670Lys) c.4768C>A (p.Gln1590Lys) c.4813C>A (p.Gln1605Lys) c.4972C>A (p.Gln1658Lys) c.5044C>A (p.Gln1682Lys) c.4504C>A (p.Gln1502Lys) c.4831C>A (p.Gln1611Lys) c.7642C>A (p.Gln2548Lys) c.1387C>A (p.Gln463Lys) c.4852C>A (p.Gln1618Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.113367775C>G | CA357942271 | ANK2 | c.11383C>G (p.Gln3795Glu) c.5068C>G (p.Gln1690Glu) c.1669C>G (p.Gln557Glu) c.2167C>G (p.Gln723Glu) n.2624C>G n.1832C>G n.2576C>G n.1405C>G n.3367C>G n.1348C>G n.1741C>G n.8087C>G n.2713C>G n.697C>G n.3131C>G n.1346C>G c.11242C>G (p.Gln3748Glu) c.11080C>G (p.Gln3694Glu) c.2374C>G (p.Gln792Glu) c.697C>G (p.Gln233Glu) c.4801C>G (p.Gln1601Glu) c.4888C>G (p.Gln1630Glu) c.4825C>G (p.Gln1609Glu) c.5023C>G (p.Gln1675Glu) c.4924C>G (p.Gln1642Glu) c.11116C>G (p.Gln3706Glu) c.4726C>G (p.Gln1576Glu) c.*480C>G (n.*480C>G) c.11059C>G (p.Gln3687Glu) c.4603C>G (p.Gln1535Glu) c.11056C>G (p.Gln3686Glu) c.4702C>G (p.Gln1568Glu) c.11287C>G (p.Gln3763Glu) c.4837C>G (p.Gln1613Glu) c.4822C>G (p.Gln1608Glu) c.11323C>G (p.Gln3775Glu) c.4810C>G (p.Gln1604Glu) c.11044C>G (p.Gln3682Glu) c.4762C>G (p.Gln1588Glu) c.4960C>G (p.Gln1654Glu) c.2551C>G (p.Gln851Glu) c.11143C>G (p.Gln3715Glu) c.5032C>G (p.Gln1678Glu) c.11179C>G (p.Gln3727Glu) c.4789C>G (p.Gln1597Glu) c.10981C>G (p.Gln3661Glu) c.4861C>G (p.Gln1621Glu) c.4405C>G (p.Gln1469Glu) c.2536C>G (p.Gln846Glu) c.10957C>G (p.Gln3653Glu) c.2515C>G (p.Gln839Glu) c.11188C>G (p.Gln3730Glu) c.4753C>G (p.Gln1585Glu) c.4495C>G (p.Gln1499Glu) c.11017C>G (p.Gln3673Glu) c.4987C>G (p.Gln1663Glu) c.2272C>G (p.Gln758Glu) c.943C>G (p.Gln315Glu) c.1991C>G c.*2603C>G (n.*2603C>G) c.11275C>G (p.Gln3759Glu) c.4984C>G (p.Gln1662Glu) c.11329C>G (p.Gln3777Glu) c.11293C>G (p.Gln3765Glu) c.5041C>G (p.Gln1681Glu) c.5074C>G (p.Gln1692Glu) c.5005C>G (p.Gln1669Glu) c.11269C>G (p.Gln3757Glu) c.11314C>G (p.Gln3772Glu) c.4999C>G (p.Gln1667Glu) c.4966C>G (p.Gln1656Glu) c.5029C>G (p.Gln1677Glu) c.4885C>G (p.Gln1629Glu) c.5065C>G (p.Gln1689Glu) c.4957C>G (p.Gln1653Glu) c.4921C>G (p.Gln1641Glu) c.4936C>G (p.Gln1646Glu) c.4846C>G (p.Gln1616Glu) c.4774C>G (p.Gln1592Glu) c.4858C>G (p.Gln1620Glu) c.4687C>G (p.Gln1563Glu) c.11359C>G (p.Gln3787Glu) c.11245C>G (p.Gln3749Glu) c.11215C>G (p.Gln3739Glu) c.11278C>G (p.Gln3760Glu) c.11008C>G (p.Gln3670Glu) c.4768C>G (p.Gln1590Glu) c.4813C>G (p.Gln1605Glu) c.4972C>G (p.Gln1658Glu) c.5044C>G (p.Gln1682Glu) c.4504C>G (p.Gln1502Glu) c.4831C>G (p.Gln1611Glu) c.7642C>G (p.Gln2548Glu) c.1387C>G (p.Gln463Glu) c.4852C>G (p.Gln1618Glu) | |
4 | g.113367775C>T | CA357942272 | ANK2 | c.11383C>T (p.Gln3795Ter) c.5068C>T (p.Gln1690Ter) c.1669C>T (p.Gln557Ter) c.2167C>T (p.Gln723Ter) n.2624C>T n.1832C>T n.2576C>T n.1405C>T n.3367C>T n.1348C>T n.1741C>T n.8087C>T n.2713C>T n.697C>T n.3131C>T n.1346C>T c.11242C>T (p.Gln3748Ter) c.11080C>T (p.Gln3694Ter) c.2374C>T (p.Gln792Ter) c.697C>T (p.Gln233Ter) c.4801C>T (p.Gln1601Ter) c.4888C>T (p.Gln1630Ter) c.4825C>T (p.Gln1609Ter) c.5023C>T (p.Gln1675Ter) c.4924C>T (p.Gln1642Ter) c.11116C>T (p.Gln3706Ter) c.4726C>T (p.Gln1576Ter) c.*480C>T (n.*480C>T) c.11059C>T (p.Gln3687Ter) c.4603C>T (p.Gln1535Ter) c.11056C>T (p.Gln3686Ter) c.4702C>T (p.Gln1568Ter) c.11287C>T (p.Gln3763Ter) c.4837C>T (p.Gln1613Ter) c.4822C>T (p.Gln1608Ter) c.11323C>T (p.Gln3775Ter) c.4810C>T (p.Gln1604Ter) c.11044C>T (p.Gln3682Ter) c.4762C>T (p.Gln1588Ter) c.4960C>T (p.Gln1654Ter) c.2551C>T (p.Gln851Ter) c.11143C>T (p.Gln3715Ter) c.5032C>T (p.Gln1678Ter) c.11179C>T (p.Gln3727Ter) c.4789C>T (p.Gln1597Ter) c.10981C>T (p.Gln3661Ter) c.4861C>T (p.Gln1621Ter) c.4405C>T (p.Gln1469Ter) c.2536C>T (p.Gln846Ter) c.10957C>T (p.Gln3653Ter) c.2515C>T (p.Gln839Ter) c.11188C>T (p.Gln3730Ter) c.4753C>T (p.Gln1585Ter) c.4495C>T (p.Gln1499Ter) c.11017C>T (p.Gln3673Ter) c.4987C>T (p.Gln1663Ter) c.2272C>T (p.Gln758Ter) c.943C>T (p.Gln315Ter) c.1991C>T c.*2603C>T (n.*2603C>T) c.11275C>T (p.Gln3759Ter) c.4984C>T (p.Gln1662Ter) c.11329C>T (p.Gln3777Ter) c.11293C>T (p.Gln3765Ter) c.5041C>T (p.Gln1681Ter) c.5074C>T (p.Gln1692Ter) c.5005C>T (p.Gln1669Ter) c.11269C>T (p.Gln3757Ter) c.11314C>T (p.Gln3772Ter) c.4999C>T (p.Gln1667Ter) c.4966C>T (p.Gln1656Ter) c.5029C>T (p.Gln1677Ter) c.4885C>T (p.Gln1629Ter) c.5065C>T (p.Gln1689Ter) c.4957C>T (p.Gln1653Ter) c.4921C>T (p.Gln1641Ter) c.4936C>T (p.Gln1646Ter) c.4846C>T (p.Gln1616Ter) c.4774C>T (p.Gln1592Ter) c.4858C>T (p.Gln1620Ter) c.4687C>T (p.Gln1563Ter) c.11359C>T (p.Gln3787Ter) c.11245C>T (p.Gln3749Ter) c.11215C>T (p.Gln3739Ter) c.11278C>T (p.Gln3760Ter) c.11008C>T (p.Gln3670Ter) c.4768C>T (p.Gln1590Ter) c.4813C>T (p.Gln1605Ter) c.4972C>T (p.Gln1658Ter) c.5044C>T (p.Gln1682Ter) c.4504C>T (p.Gln1502Ter) c.4831C>T (p.Gln1611Ter) c.7642C>T (p.Gln2548Ter) c.1387C>T (p.Gln463Ter) c.4852C>T (p.Gln1618Ter) | |
4 | g.113367776A>C | CA357942273 | ANK2 | c.11384A>C (p.Gln3795Pro) c.5069A>C (p.Gln1690Pro) c.1670A>C (p.Gln557Pro) c.2168A>C (p.Gln723Pro) n.2625A>C n.1833A>C n.2577A>C n.1406A>C n.3368A>C n.1349A>C n.1742A>C n.8088A>C n.2714A>C n.698A>C n.3132A>C n.1347A>C c.11243A>C (p.Gln3748Pro) c.11081A>C (p.Gln3694Pro) c.2375A>C (p.Gln792Pro) c.698A>C (p.Gln233Pro) c.4802A>C (p.Gln1601Pro) c.4889A>C (p.Gln1630Pro) c.4826A>C (p.Gln1609Pro) c.5024A>C (p.Gln1675Pro) c.4925A>C (p.Gln1642Pro) c.11117A>C (p.Gln3706Pro) c.4727A>C (p.Gln1576Pro) c.*481A>C (n.*481A>C) c.11060A>C (p.Gln3687Pro) c.4604A>C (p.Gln1535Pro) c.11057A>C (p.Gln3686Pro) c.4703A>C (p.Gln1568Pro) c.11288A>C (p.Gln3763Pro) c.4838A>C (p.Gln1613Pro) c.4823A>C (p.Gln1608Pro) c.11324A>C (p.Gln3775Pro) c.4811A>C (p.Gln1604Pro) c.11045A>C (p.Gln3682Pro) c.4763A>C (p.Gln1588Pro) c.4961A>C (p.Gln1654Pro) c.2552A>C (p.Gln851Pro) c.11144A>C (p.Gln3715Pro) c.5033A>C (p.Gln1678Pro) c.11180A>C (p.Gln3727Pro) c.4790A>C (p.Gln1597Pro) c.10982A>C (p.Gln3661Pro) c.4862A>C (p.Gln1621Pro) c.4406A>C (p.Gln1469Pro) c.2537A>C (p.Gln846Pro) c.10958A>C (p.Gln3653Pro) c.2516A>C (p.Gln839Pro) c.11189A>C (p.Gln3730Pro) c.4754A>C (p.Gln1585Pro) c.4496A>C (p.Gln1499Pro) c.11018A>C (p.Gln3673Pro) c.4988A>C (p.Gln1663Pro) c.2273A>C (p.Gln758Pro) c.944A>C (p.Gln315Pro) c.1992A>C c.*2604A>C (n.*2604A>C) c.11276A>C (p.Gln3759Pro) c.4985A>C (p.Gln1662Pro) c.11330A>C (p.Gln3777Pro) c.11294A>C (p.Gln3765Pro) c.5042A>C (p.Gln1681Pro) c.5075A>C (p.Gln1692Pro) c.5006A>C (p.Gln1669Pro) c.11270A>C (p.Gln3757Pro) c.11315A>C (p.Gln3772Pro) c.5000A>C (p.Gln1667Pro) c.4967A>C (p.Gln1656Pro) c.5030A>C (p.Gln1677Pro) c.4886A>C (p.Gln1629Pro) c.5066A>C (p.Gln1689Pro) c.4958A>C (p.Gln1653Pro) c.4922A>C (p.Gln1641Pro) c.4937A>C (p.Gln1646Pro) c.4847A>C (p.Gln1616Pro) c.4775A>C (p.Gln1592Pro) c.4859A>C (p.Gln1620Pro) c.4688A>C (p.Gln1563Pro) c.11360A>C (p.Gln3787Pro) c.11246A>C (p.Gln3749Pro) c.11216A>C (p.Gln3739Pro) c.11279A>C (p.Gln3760Pro) c.11009A>C (p.Gln3670Pro) c.4769A>C (p.Gln1590Pro) c.4814A>C (p.Gln1605Pro) c.4973A>C (p.Gln1658Pro) c.5045A>C (p.Gln1682Pro) c.4505A>C (p.Gln1502Pro) c.4832A>C (p.Gln1611Pro) c.7643A>C (p.Gln2548Pro) c.1388A>C (p.Gln463Pro) c.4853A>C (p.Gln1618Pro) | |
4 | g.113367776A>G | CA357942274 | ANK2 | c.11384A>G (p.Gln3795Arg) c.5069A>G (p.Gln1690Arg) c.1670A>G (p.Gln557Arg) c.2168A>G (p.Gln723Arg) n.2625A>G n.1833A>G n.2577A>G n.1406A>G n.3368A>G n.1349A>G n.1742A>G n.8088A>G n.2714A>G n.698A>G n.3132A>G n.1347A>G c.11243A>G (p.Gln3748Arg) c.11081A>G (p.Gln3694Arg) c.2375A>G (p.Gln792Arg) c.698A>G (p.Gln233Arg) c.4802A>G (p.Gln1601Arg) c.4889A>G (p.Gln1630Arg) c.4826A>G (p.Gln1609Arg) c.5024A>G (p.Gln1675Arg) c.4925A>G (p.Gln1642Arg) c.11117A>G (p.Gln3706Arg) c.4727A>G (p.Gln1576Arg) c.*481A>G (n.*481A>G) c.11060A>G (p.Gln3687Arg) c.4604A>G (p.Gln1535Arg) c.11057A>G (p.Gln3686Arg) c.4703A>G (p.Gln1568Arg) c.11288A>G (p.Gln3763Arg) c.4838A>G (p.Gln1613Arg) c.4823A>G (p.Gln1608Arg) c.11324A>G (p.Gln3775Arg) c.4811A>G (p.Gln1604Arg) c.11045A>G (p.Gln3682Arg) c.4763A>G (p.Gln1588Arg) c.4961A>G (p.Gln1654Arg) c.2552A>G (p.Gln851Arg) c.11144A>G (p.Gln3715Arg) c.5033A>G (p.Gln1678Arg) c.11180A>G (p.Gln3727Arg) c.4790A>G (p.Gln1597Arg) c.10982A>G (p.Gln3661Arg) c.4862A>G (p.Gln1621Arg) c.4406A>G (p.Gln1469Arg) c.2537A>G (p.Gln846Arg) c.10958A>G (p.Gln3653Arg) c.2516A>G (p.Gln839Arg) c.11189A>G (p.Gln3730Arg) c.4754A>G (p.Gln1585Arg) c.4496A>G (p.Gln1499Arg) c.11018A>G (p.Gln3673Arg) c.4988A>G (p.Gln1663Arg) c.2273A>G (p.Gln758Arg) c.944A>G (p.Gln315Arg) c.1992A>G c.*2604A>G (n.*2604A>G) c.11276A>G (p.Gln3759Arg) c.4985A>G (p.Gln1662Arg) c.11330A>G (p.Gln3777Arg) c.11294A>G (p.Gln3765Arg) c.5042A>G (p.Gln1681Arg) c.5075A>G (p.Gln1692Arg) c.5006A>G (p.Gln1669Arg) c.11270A>G (p.Gln3757Arg) c.11315A>G (p.Gln3772Arg) c.5000A>G (p.Gln1667Arg) c.4967A>G (p.Gln1656Arg) c.5030A>G (p.Gln1677Arg) c.4886A>G (p.Gln1629Arg) c.5066A>G (p.Gln1689Arg) c.4958A>G (p.Gln1653Arg) c.4922A>G (p.Gln1641Arg) c.4937A>G (p.Gln1646Arg) c.4847A>G (p.Gln1616Arg) c.4775A>G (p.Gln1592Arg) c.4859A>G (p.Gln1620Arg) c.4688A>G (p.Gln1563Arg) c.11360A>G (p.Gln3787Arg) c.11246A>G (p.Gln3749Arg) c.11216A>G (p.Gln3739Arg) c.11279A>G (p.Gln3760Arg) c.11009A>G (p.Gln3670Arg) c.4769A>G (p.Gln1590Arg) c.4814A>G (p.Gln1605Arg) c.4973A>G (p.Gln1658Arg) c.5045A>G (p.Gln1682Arg) c.4505A>G (p.Gln1502Arg) c.4832A>G (p.Gln1611Arg) c.7643A>G (p.Gln2548Arg) c.1388A>G (p.Gln463Arg) c.4853A>G (p.Gln1618Arg) | dbSNP gnomAD v4 |
4 | g.113367776A>T | CA357942275 | ANK2 | c.11384A>T (p.Gln3795Leu) c.5069A>T (p.Gln1690Leu) c.1670A>T (p.Gln557Leu) c.2168A>T (p.Gln723Leu) n.2625A>T n.1833A>T n.2577A>T n.1406A>T n.3368A>T n.1349A>T n.1742A>T n.8088A>T n.2714A>T n.698A>T n.3132A>T n.1347A>T c.11243A>T (p.Gln3748Leu) c.11081A>T (p.Gln3694Leu) c.2375A>T (p.Gln792Leu) c.698A>T (p.Gln233Leu) c.4802A>T (p.Gln1601Leu) c.4889A>T (p.Gln1630Leu) c.4826A>T (p.Gln1609Leu) c.5024A>T (p.Gln1675Leu) c.4925A>T (p.Gln1642Leu) c.11117A>T (p.Gln3706Leu) c.4727A>T (p.Gln1576Leu) c.*481A>T (n.*481A>T) c.11060A>T (p.Gln3687Leu) c.4604A>T (p.Gln1535Leu) c.11057A>T (p.Gln3686Leu) c.4703A>T (p.Gln1568Leu) c.11288A>T (p.Gln3763Leu) c.4838A>T (p.Gln1613Leu) c.4823A>T (p.Gln1608Leu) c.11324A>T (p.Gln3775Leu) c.4811A>T (p.Gln1604Leu) c.11045A>T (p.Gln3682Leu) c.4763A>T (p.Gln1588Leu) c.4961A>T (p.Gln1654Leu) c.2552A>T (p.Gln851Leu) c.11144A>T (p.Gln3715Leu) c.5033A>T (p.Gln1678Leu) c.11180A>T (p.Gln3727Leu) c.4790A>T (p.Gln1597Leu) c.10982A>T (p.Gln3661Leu) c.4862A>T (p.Gln1621Leu) c.4406A>T (p.Gln1469Leu) c.2537A>T (p.Gln846Leu) c.10958A>T (p.Gln3653Leu) c.2516A>T (p.Gln839Leu) c.11189A>T (p.Gln3730Leu) c.4754A>T (p.Gln1585Leu) c.4496A>T (p.Gln1499Leu) c.11018A>T (p.Gln3673Leu) c.4988A>T (p.Gln1663Leu) c.2273A>T (p.Gln758Leu) c.944A>T (p.Gln315Leu) c.1992A>T c.*2604A>T (n.*2604A>T) c.11276A>T (p.Gln3759Leu) c.4985A>T (p.Gln1662Leu) c.11330A>T (p.Gln3777Leu) c.11294A>T (p.Gln3765Leu) c.5042A>T (p.Gln1681Leu) c.5075A>T (p.Gln1692Leu) c.5006A>T (p.Gln1669Leu) c.11270A>T (p.Gln3757Leu) c.11315A>T (p.Gln3772Leu) c.5000A>T (p.Gln1667Leu) c.4967A>T (p.Gln1656Leu) c.5030A>T (p.Gln1677Leu) c.4886A>T (p.Gln1629Leu) c.5066A>T (p.Gln1689Leu) c.4958A>T (p.Gln1653Leu) c.4922A>T (p.Gln1641Leu) c.4937A>T (p.Gln1646Leu) c.4847A>T (p.Gln1616Leu) c.4775A>T (p.Gln1592Leu) c.4859A>T (p.Gln1620Leu) c.4688A>T (p.Gln1563Leu) c.11360A>T (p.Gln3787Leu) c.11246A>T (p.Gln3749Leu) c.11216A>T (p.Gln3739Leu) c.11279A>T (p.Gln3760Leu) c.11009A>T (p.Gln3670Leu) c.4769A>T (p.Gln1590Leu) c.4814A>T (p.Gln1605Leu) c.4973A>T (p.Gln1658Leu) c.5045A>T (p.Gln1682Leu) c.4505A>T (p.Gln1502Leu) c.4832A>T (p.Gln1611Leu) c.7643A>T (p.Gln2548Leu) c.1388A>T (p.Gln463Leu) c.4853A>T (p.Gln1618Leu) | |
4 | g.113367777A>C | CA357942276 | ANK2 | c.11385A>C (p.Gln3795His) c.5070A>C (p.Gln1690His) c.1671A>C (p.Gln557His) c.2169A>C (p.Gln723His) n.2626A>C n.1834A>C n.2578A>C n.1407A>C n.3369A>C n.1350A>C n.1743A>C n.8089A>C n.2715A>C n.699A>C n.3133A>C n.1348A>C c.11244A>C (p.Gln3748His) c.11082A>C (p.Gln3694His) c.2376A>C (p.Gln792His) c.699A>C (p.Gln233His) c.4803A>C (p.Gln1601His) c.4890A>C (p.Gln1630His) c.4827A>C (p.Gln1609His) c.5025A>C (p.Gln1675His) c.4926A>C (p.Gln1642His) c.11118A>C (p.Gln3706His) c.4728A>C (p.Gln1576His) c.*482A>C (n.*482A>C) c.11061A>C (p.Gln3687His) c.4605A>C (p.Gln1535His) c.11058A>C (p.Gln3686His) c.4704A>C (p.Gln1568His) c.11289A>C (p.Gln3763His) c.4839A>C (p.Gln1613His) c.4824A>C (p.Gln1608His) c.11325A>C (p.Gln3775His) c.4812A>C (p.Gln1604His) c.11046A>C (p.Gln3682His) c.4764A>C (p.Gln1588His) c.4962A>C (p.Gln1654His) c.2553A>C (p.Gln851His) c.11145A>C (p.Gln3715His) c.5034A>C (p.Gln1678His) c.11181A>C (p.Gln3727His) c.4791A>C (p.Gln1597His) c.10983A>C (p.Gln3661His) c.4863A>C (p.Gln1621His) c.4407A>C (p.Gln1469His) c.2538A>C (p.Gln846His) c.10959A>C (p.Gln3653His) c.2517A>C (p.Gln839His) c.11190A>C (p.Gln3730His) c.4755A>C (p.Gln1585His) c.4497A>C (p.Gln1499His) c.11019A>C (p.Gln3673His) c.4989A>C (p.Gln1663His) c.2274A>C (p.Gln758His) c.945A>C (p.Gln315His) c.1993A>C c.*2605A>C (n.*2605A>C) c.11277A>C (p.Gln3759His) c.4986A>C (p.Gln1662His) c.11331A>C (p.Gln3777His) c.11295A>C (p.Gln3765His) c.5043A>C (p.Gln1681His) c.5076A>C (p.Gln1692His) c.5007A>C (p.Gln1669His) c.11271A>C (p.Gln3757His) c.11316A>C (p.Gln3772His) c.5001A>C (p.Gln1667His) c.4968A>C (p.Gln1656His) c.5031A>C (p.Gln1677His) c.4887A>C (p.Gln1629His) c.5067A>C (p.Gln1689His) c.4959A>C (p.Gln1653His) c.4923A>C (p.Gln1641His) c.4938A>C (p.Gln1646His) c.4848A>C (p.Gln1616His) c.4776A>C (p.Gln1592His) c.4860A>C (p.Gln1620His) c.4689A>C (p.Gln1563His) c.11361A>C (p.Gln3787His) c.11247A>C (p.Gln3749His) c.11217A>C (p.Gln3739His) c.11280A>C (p.Gln3760His) c.11010A>C (p.Gln3670His) c.4770A>C (p.Gln1590His) c.4815A>C (p.Gln1605His) c.4974A>C (p.Gln1658His) c.5046A>C (p.Gln1682His) c.4506A>C (p.Gln1502His) c.4833A>C (p.Gln1611His) c.7644A>C (p.Gln2548His) c.1389A>C (p.Gln463His) c.4854A>C (p.Gln1618His) | |
4 | g.113367777A>G | CA440833289 | ANK2 | c.11385A>G (p.Gln3795=) c.5070A>G (p.Gln1690=) c.1671A>G (p.Gln557=) c.2169A>G (p.Gln723=) n.2626A>G n.1834A>G n.2578A>G n.1407A>G n.3369A>G n.1350A>G n.1743A>G n.8089A>G n.2715A>G n.699A>G n.3133A>G n.1348A>G c.11244A>G (p.Gln3748=) c.11082A>G (p.Gln3694=) c.2376A>G (p.Gln792=) c.699A>G (p.Gln233=) c.4803A>G (p.Gln1601=) c.4890A>G (p.Gln1630=) c.4827A>G (p.Gln1609=) c.5025A>G (p.Gln1675=) c.4926A>G (p.Gln1642=) c.11118A>G (p.Gln3706=) c.4728A>G (p.Gln1576=) c.*482A>G (n.*482A>G) c.11061A>G (p.Gln3687=) c.4605A>G (p.Gln1535=) c.11058A>G (p.Gln3686=) c.4704A>G (p.Gln1568=) c.11289A>G (p.Gln3763=) c.4839A>G (p.Gln1613=) c.4824A>G (p.Gln1608=) c.11325A>G (p.Gln3775=) c.4812A>G (p.Gln1604=) c.11046A>G (p.Gln3682=) c.4764A>G (p.Gln1588=) c.4962A>G (p.Gln1654=) c.2553A>G (p.Gln851=) c.11145A>G (p.Gln3715=) c.5034A>G (p.Gln1678=) c.11181A>G (p.Gln3727=) c.4791A>G (p.Gln1597=) c.10983A>G (p.Gln3661=) c.4863A>G (p.Gln1621=) c.4407A>G (p.Gln1469=) c.2538A>G (p.Gln846=) c.10959A>G (p.Gln3653=) c.2517A>G (p.Gln839=) c.11190A>G (p.Gln3730=) c.4755A>G (p.Gln1585=) c.4497A>G (p.Gln1499=) c.11019A>G (p.Gln3673=) c.4989A>G (p.Gln1663=) c.2274A>G (p.Gln758=) c.945A>G (p.Gln315=) c.1993A>G c.*2605A>G (n.*2605A>G) c.11277A>G (p.Gln3759=) c.4986A>G (p.Gln1662=) c.11331A>G (p.Gln3777=) c.11295A>G (p.Gln3765=) c.5043A>G (p.Gln1681=) c.5076A>G (p.Gln1692=) c.5007A>G (p.Gln1669=) c.11271A>G (p.Gln3757=) c.11316A>G (p.Gln3772=) c.5001A>G (p.Gln1667=) c.4968A>G (p.Gln1656=) c.5031A>G (p.Gln1677=) c.4887A>G (p.Gln1629=) c.5067A>G (p.Gln1689=) c.4959A>G (p.Gln1653=) c.4923A>G (p.Gln1641=) c.4938A>G (p.Gln1646=) c.4848A>G (p.Gln1616=) c.4776A>G (p.Gln1592=) c.4860A>G (p.Gln1620=) c.4689A>G (p.Gln1563=) c.11361A>G (p.Gln3787=) c.11247A>G (p.Gln3749=) c.11217A>G (p.Gln3739=) c.11280A>G (p.Gln3760=) c.11010A>G (p.Gln3670=) c.4770A>G (p.Gln1590=) c.4815A>G (p.Gln1605=) c.4974A>G (p.Gln1658=) c.5046A>G (p.Gln1682=) c.4506A>G (p.Gln1502=) c.4833A>G (p.Gln1611=) c.7644A>G (p.Gln2548=) c.1389A>G (p.Gln463=) c.4854A>G (p.Gln1618=) | gnomAD v4 |
4 | g.113367777A>T | CA357942277 | ANK2 | c.11385A>T (p.Gln3795His) c.5070A>T (p.Gln1690His) c.1671A>T (p.Gln557His) c.2169A>T (p.Gln723His) n.2626A>T n.1834A>T n.2578A>T n.1407A>T n.3369A>T n.1350A>T n.1743A>T n.8089A>T n.2715A>T n.699A>T n.3133A>T n.1348A>T c.11244A>T (p.Gln3748His) c.11082A>T (p.Gln3694His) c.2376A>T (p.Gln792His) c.699A>T (p.Gln233His) c.4803A>T (p.Gln1601His) c.4890A>T (p.Gln1630His) c.4827A>T (p.Gln1609His) c.5025A>T (p.Gln1675His) c.4926A>T (p.Gln1642His) c.11118A>T (p.Gln3706His) c.4728A>T (p.Gln1576His) c.*482A>T (n.*482A>T) c.11061A>T (p.Gln3687His) c.4605A>T (p.Gln1535His) c.11058A>T (p.Gln3686His) c.4704A>T (p.Gln1568His) c.11289A>T (p.Gln3763His) c.4839A>T (p.Gln1613His) c.4824A>T (p.Gln1608His) c.11325A>T (p.Gln3775His) c.4812A>T (p.Gln1604His) c.11046A>T (p.Gln3682His) c.4764A>T (p.Gln1588His) c.4962A>T (p.Gln1654His) c.2553A>T (p.Gln851His) c.11145A>T (p.Gln3715His) c.5034A>T (p.Gln1678His) c.11181A>T (p.Gln3727His) c.4791A>T (p.Gln1597His) c.10983A>T (p.Gln3661His) c.4863A>T (p.Gln1621His) c.4407A>T (p.Gln1469His) c.2538A>T (p.Gln846His) c.10959A>T (p.Gln3653His) c.2517A>T (p.Gln839His) c.11190A>T (p.Gln3730His) c.4755A>T (p.Gln1585His) c.4497A>T (p.Gln1499His) c.11019A>T (p.Gln3673His) c.4989A>T (p.Gln1663His) c.2274A>T (p.Gln758His) c.945A>T (p.Gln315His) c.1993A>T c.*2605A>T (n.*2605A>T) c.11277A>T (p.Gln3759His) c.4986A>T (p.Gln1662His) c.11331A>T (p.Gln3777His) c.11295A>T (p.Gln3765His) c.5043A>T (p.Gln1681His) c.5076A>T (p.Gln1692His) c.5007A>T (p.Gln1669His) c.11271A>T (p.Gln3757His) c.11316A>T (p.Gln3772His) c.5001A>T (p.Gln1667His) c.4968A>T (p.Gln1656His) c.5031A>T (p.Gln1677His) c.4887A>T (p.Gln1629His) c.5067A>T (p.Gln1689His) c.4959A>T (p.Gln1653His) c.4923A>T (p.Gln1641His) c.4938A>T (p.Gln1646His) c.4848A>T (p.Gln1616His) c.4776A>T (p.Gln1592His) c.4860A>T (p.Gln1620His) c.4689A>T (p.Gln1563His) c.11361A>T (p.Gln3787His) c.11247A>T (p.Gln3749His) c.11217A>T (p.Gln3739His) c.11280A>T (p.Gln3760His) c.11010A>T (p.Gln3670His) c.4770A>T (p.Gln1590His) c.4815A>T (p.Gln1605His) c.4974A>T (p.Gln1658His) c.5046A>T (p.Gln1682His) c.4506A>T (p.Gln1502His) c.4833A>T (p.Gln1611His) c.7644A>T (p.Gln2548His) c.1389A>T (p.Gln463His) c.4854A>T (p.Gln1618His) | |
4 | g.113367778G>A | CA357942278 | ANK2 | c.11386G>A (p.Val3796Ile) c.5071G>A (p.Val1691Ile) c.1672G>A (p.Val558Ile) c.2170G>A (p.Val724Ile) n.2627G>A n.1835G>A n.2579G>A n.1408G>A n.3370G>A n.1351G>A n.1744G>A n.8090G>A n.2716G>A n.700G>A n.3134G>A n.1349G>A c.11245G>A (p.Val3749Ile) c.11083G>A (p.Val3695Ile) c.2377G>A (p.Val793Ile) c.700G>A (p.Val234Ile) c.4804G>A (p.Val1602Ile) c.4891G>A (p.Val1631Ile) c.4828G>A (p.Val1610Ile) c.5026G>A (p.Val1676Ile) c.4927G>A (p.Val1643Ile) c.11119G>A (p.Val3707Ile) c.4729G>A (p.Val1577Ile) c.*483G>A (n.*483G>A) c.11062G>A (p.Val3688Ile) c.4606G>A (p.Val1536Ile) c.11059G>A (p.Val3687Ile) c.4705G>A (p.Val1569Ile) c.11290G>A (p.Val3764Ile) c.4840G>A (p.Val1614Ile) c.4825G>A (p.Val1609Ile) c.11326G>A (p.Val3776Ile) c.4813G>A (p.Val1605Ile) c.11047G>A (p.Val3683Ile) c.4765G>A (p.Val1589Ile) c.4963G>A (p.Val1655Ile) c.2554G>A (p.Val852Ile) c.11146G>A (p.Val3716Ile) c.5035G>A (p.Val1679Ile) c.11182G>A (p.Val3728Ile) c.4792G>A (p.Val1598Ile) c.10984G>A (p.Val3662Ile) c.4864G>A (p.Val1622Ile) c.4408G>A (p.Val1470Ile) c.2539G>A (p.Val847Ile) c.10960G>A (p.Val3654Ile) c.2518G>A (p.Val840Ile) c.11191G>A (p.Val3731Ile) c.4756G>A (p.Val1586Ile) c.4498G>A (p.Val1500Ile) c.11020G>A (p.Val3674Ile) c.4990G>A (p.Val1664Ile) c.2275G>A (p.Val759Ile) c.946G>A (p.Val316Ile) c.1994G>A c.*2606G>A (n.*2606G>A) c.11278G>A (p.Val3760Ile) c.4987G>A (p.Val1663Ile) c.11332G>A (p.Val3778Ile) c.11296G>A (p.Val3766Ile) c.5044G>A (p.Val1682Ile) c.5077G>A (p.Val1693Ile) c.5008G>A (p.Val1670Ile) c.11272G>A (p.Val3758Ile) c.11317G>A (p.Val3773Ile) c.5002G>A (p.Val1668Ile) c.4969G>A (p.Val1657Ile) c.5032G>A (p.Val1678Ile) c.4888G>A (p.Val1630Ile) c.5068G>A (p.Val1690Ile) c.4960G>A (p.Val1654Ile) c.4924G>A (p.Val1642Ile) c.4939G>A (p.Val1647Ile) c.4849G>A (p.Val1617Ile) c.4777G>A (p.Val1593Ile) c.4861G>A (p.Val1621Ile) c.4690G>A (p.Val1564Ile) c.11362G>A (p.Val3788Ile) c.11248G>A (p.Val3750Ile) c.11218G>A (p.Val3740Ile) c.11281G>A (p.Val3761Ile) c.11011G>A (p.Val3671Ile) c.4771G>A (p.Val1591Ile) c.4816G>A (p.Val1606Ile) c.4975G>A (p.Val1659Ile) c.5047G>A (p.Val1683Ile) c.4507G>A (p.Val1503Ile) c.4834G>A (p.Val1612Ile) c.7645G>A (p.Val2549Ile) c.1390G>A (p.Val464Ile) c.4855G>A (p.Val1619Ile) | |
4 | g.113367778G>C | CA357942280 | ANK2 | c.11386G>C (p.Val3796Leu) c.5071G>C (p.Val1691Leu) c.1672G>C (p.Val558Leu) c.2170G>C (p.Val724Leu) n.2627G>C n.1835G>C n.2579G>C n.1408G>C n.3370G>C n.1351G>C n.1744G>C n.8090G>C n.2716G>C n.700G>C n.3134G>C n.1349G>C c.11245G>C (p.Val3749Leu) c.11083G>C (p.Val3695Leu) c.2377G>C (p.Val793Leu) c.700G>C (p.Val234Leu) c.4804G>C (p.Val1602Leu) c.4891G>C (p.Val1631Leu) c.4828G>C (p.Val1610Leu) c.5026G>C (p.Val1676Leu) c.4927G>C (p.Val1643Leu) c.11119G>C (p.Val3707Leu) c.4729G>C (p.Val1577Leu) c.*483G>C (n.*483G>C) c.11062G>C (p.Val3688Leu) c.4606G>C (p.Val1536Leu) c.11059G>C (p.Val3687Leu) c.4705G>C (p.Val1569Leu) c.11290G>C (p.Val3764Leu) c.4840G>C (p.Val1614Leu) c.4825G>C (p.Val1609Leu) c.11326G>C (p.Val3776Leu) c.4813G>C (p.Val1605Leu) c.11047G>C (p.Val3683Leu) c.4765G>C (p.Val1589Leu) c.4963G>C (p.Val1655Leu) c.2554G>C (p.Val852Leu) c.11146G>C (p.Val3716Leu) c.5035G>C (p.Val1679Leu) c.11182G>C (p.Val3728Leu) c.4792G>C (p.Val1598Leu) c.10984G>C (p.Val3662Leu) c.4864G>C (p.Val1622Leu) c.4408G>C (p.Val1470Leu) c.2539G>C (p.Val847Leu) c.10960G>C (p.Val3654Leu) c.2518G>C (p.Val840Leu) c.11191G>C (p.Val3731Leu) c.4756G>C (p.Val1586Leu) c.4498G>C (p.Val1500Leu) c.11020G>C (p.Val3674Leu) c.4990G>C (p.Val1664Leu) c.2275G>C (p.Val759Leu) c.946G>C (p.Val316Leu) c.1994G>C c.*2606G>C (n.*2606G>C) c.11278G>C (p.Val3760Leu) c.4987G>C (p.Val1663Leu) c.11332G>C (p.Val3778Leu) c.11296G>C (p.Val3766Leu) c.5044G>C (p.Val1682Leu) c.5077G>C (p.Val1693Leu) c.5008G>C (p.Val1670Leu) c.11272G>C (p.Val3758Leu) c.11317G>C (p.Val3773Leu) c.5002G>C (p.Val1668Leu) c.4969G>C (p.Val1657Leu) c.5032G>C (p.Val1678Leu) c.4888G>C (p.Val1630Leu) c.5068G>C (p.Val1690Leu) c.4960G>C (p.Val1654Leu) c.4924G>C (p.Val1642Leu) c.4939G>C (p.Val1647Leu) c.4849G>C (p.Val1617Leu) c.4777G>C (p.Val1593Leu) c.4861G>C (p.Val1621Leu) c.4690G>C (p.Val1564Leu) c.11362G>C (p.Val3788Leu) c.11248G>C (p.Val3750Leu) c.11218G>C (p.Val3740Leu) c.11281G>C (p.Val3761Leu) c.11011G>C (p.Val3671Leu) c.4771G>C (p.Val1591Leu) c.4816G>C (p.Val1606Leu) c.4975G>C (p.Val1659Leu) c.5047G>C (p.Val1683Leu) c.4507G>C (p.Val1503Leu) c.4834G>C (p.Val1612Leu) c.7645G>C (p.Val2549Leu) c.1390G>C (p.Val464Leu) c.4855G>C (p.Val1619Leu) | |
4 | g.113367778G>T | CA357942279 | ANK2 | c.11386G>T (p.Val3796Phe) c.5071G>T (p.Val1691Phe) c.1672G>T (p.Val558Phe) c.2170G>T (p.Val724Phe) n.2627G>T n.1835G>T n.2579G>T n.1408G>T n.3370G>T n.1351G>T n.1744G>T n.8090G>T n.2716G>T n.700G>T n.3134G>T n.1349G>T c.11245G>T (p.Val3749Phe) c.11083G>T (p.Val3695Phe) c.2377G>T (p.Val793Phe) c.700G>T (p.Val234Phe) c.4804G>T (p.Val1602Phe) c.4891G>T (p.Val1631Phe) c.4828G>T (p.Val1610Phe) c.5026G>T (p.Val1676Phe) c.4927G>T (p.Val1643Phe) c.11119G>T (p.Val3707Phe) c.4729G>T (p.Val1577Phe) c.*483G>T (n.*483G>T) c.11062G>T (p.Val3688Phe) c.4606G>T (p.Val1536Phe) c.11059G>T (p.Val3687Phe) c.4705G>T (p.Val1569Phe) c.11290G>T (p.Val3764Phe) c.4840G>T (p.Val1614Phe) c.4825G>T (p.Val1609Phe) c.11326G>T (p.Val3776Phe) c.4813G>T (p.Val1605Phe) c.11047G>T (p.Val3683Phe) c.4765G>T (p.Val1589Phe) c.4963G>T (p.Val1655Phe) c.2554G>T (p.Val852Phe) c.11146G>T (p.Val3716Phe) c.5035G>T (p.Val1679Phe) c.11182G>T (p.Val3728Phe) c.4792G>T (p.Val1598Phe) c.10984G>T (p.Val3662Phe) c.4864G>T (p.Val1622Phe) c.4408G>T (p.Val1470Phe) c.2539G>T (p.Val847Phe) c.10960G>T (p.Val3654Phe) c.2518G>T (p.Val840Phe) c.11191G>T (p.Val3731Phe) c.4756G>T (p.Val1586Phe) c.4498G>T (p.Val1500Phe) c.11020G>T (p.Val3674Phe) c.4990G>T (p.Val1664Phe) c.2275G>T (p.Val759Phe) c.946G>T (p.Val316Phe) c.1994G>T c.*2606G>T (n.*2606G>T) c.11278G>T (p.Val3760Phe) c.4987G>T (p.Val1663Phe) c.11332G>T (p.Val3778Phe) c.11296G>T (p.Val3766Phe) c.5044G>T (p.Val1682Phe) c.5077G>T (p.Val1693Phe) c.5008G>T (p.Val1670Phe) c.11272G>T (p.Val3758Phe) c.11317G>T (p.Val3773Phe) c.5002G>T (p.Val1668Phe) c.4969G>T (p.Val1657Phe) c.5032G>T (p.Val1678Phe) c.4888G>T (p.Val1630Phe) c.5068G>T (p.Val1690Phe) c.4960G>T (p.Val1654Phe) c.4924G>T (p.Val1642Phe) c.4939G>T (p.Val1647Phe) c.4849G>T (p.Val1617Phe) c.4777G>T (p.Val1593Phe) c.4861G>T (p.Val1621Phe) c.4690G>T (p.Val1564Phe) c.11362G>T (p.Val3788Phe) c.11248G>T (p.Val3750Phe) c.11218G>T (p.Val3740Phe) c.11281G>T (p.Val3761Phe) c.11011G>T (p.Val3671Phe) c.4771G>T (p.Val1591Phe) c.4816G>T (p.Val1606Phe) c.4975G>T (p.Val1659Phe) c.5047G>T (p.Val1683Phe) c.4507G>T (p.Val1503Phe) c.4834G>T (p.Val1612Phe) c.7645G>T (p.Val2549Phe) c.1390G>T (p.Val464Phe) c.4855G>T (p.Val1619Phe) | gnomAD v4 |
4 | g.113367779T>A | CA357942281 | ANK2 | c.11387T>A (p.Val3796Asp) c.5072T>A (p.Val1691Asp) c.1673T>A (p.Val558Asp) c.2171T>A (p.Val724Asp) n.2628T>A n.1836T>A n.2580T>A n.1409T>A n.3371T>A n.1352T>A n.1745T>A n.8091T>A n.2717T>A n.701T>A n.3135T>A n.1350T>A c.11246T>A (p.Val3749Asp) c.11084T>A (p.Val3695Asp) c.2378T>A (p.Val793Asp) c.701T>A (p.Val234Asp) c.4805T>A (p.Val1602Asp) c.4892T>A (p.Val1631Asp) c.4829T>A (p.Val1610Asp) c.5027T>A (p.Val1676Asp) c.4928T>A (p.Val1643Asp) c.11120T>A (p.Val3707Asp) c.4730T>A (p.Val1577Asp) c.*484T>A (n.*484T>A) c.11063T>A (p.Val3688Asp) c.4607T>A (p.Val1536Asp) c.11060T>A (p.Val3687Asp) c.4706T>A (p.Val1569Asp) c.11291T>A (p.Val3764Asp) c.4841T>A (p.Val1614Asp) c.4826T>A (p.Val1609Asp) c.11327T>A (p.Val3776Asp) c.4814T>A (p.Val1605Asp) c.11048T>A (p.Val3683Asp) c.4766T>A (p.Val1589Asp) c.4964T>A (p.Val1655Asp) c.2555T>A (p.Val852Asp) c.11147T>A (p.Val3716Asp) c.5036T>A (p.Val1679Asp) c.11183T>A (p.Val3728Asp) c.4793T>A (p.Val1598Asp) c.10985T>A (p.Val3662Asp) c.4865T>A (p.Val1622Asp) c.4409T>A (p.Val1470Asp) c.2540T>A (p.Val847Asp) c.10961T>A (p.Val3654Asp) c.2519T>A (p.Val840Asp) c.11192T>A (p.Val3731Asp) c.4757T>A (p.Val1586Asp) c.4499T>A (p.Val1500Asp) c.11021T>A (p.Val3674Asp) c.4991T>A (p.Val1664Asp) c.2276T>A (p.Val759Asp) c.947T>A (p.Val316Asp) c.1995T>A c.*2607T>A (n.*2607T>A) c.11279T>A (p.Val3760Asp) c.4988T>A (p.Val1663Asp) c.11333T>A (p.Val3778Asp) c.11297T>A (p.Val3766Asp) c.5045T>A (p.Val1682Asp) c.5078T>A (p.Val1693Asp) c.5009T>A (p.Val1670Asp) c.11273T>A (p.Val3758Asp) c.11318T>A (p.Val3773Asp) c.5003T>A (p.Val1668Asp) c.4970T>A (p.Val1657Asp) c.5033T>A (p.Val1678Asp) c.4889T>A (p.Val1630Asp) c.5069T>A (p.Val1690Asp) c.4961T>A (p.Val1654Asp) c.4925T>A (p.Val1642Asp) c.4940T>A (p.Val1647Asp) c.4850T>A (p.Val1617Asp) c.4778T>A (p.Val1593Asp) c.4862T>A (p.Val1621Asp) c.4691T>A (p.Val1564Asp) c.11363T>A (p.Val3788Asp) c.11249T>A (p.Val3750Asp) c.11219T>A (p.Val3740Asp) c.11282T>A (p.Val3761Asp) c.11012T>A (p.Val3671Asp) c.4772T>A (p.Val1591Asp) c.4817T>A (p.Val1606Asp) c.4976T>A (p.Val1659Asp) c.5048T>A (p.Val1683Asp) c.4508T>A (p.Val1503Asp) c.4835T>A (p.Val1612Asp) c.7646T>A (p.Val2549Asp) c.1391T>A (p.Val464Asp) c.4856T>A (p.Val1619Asp) | |
4 | g.113367779T>C | CA357942282 | ANK2 | c.11387T>C (p.Val3796Ala) c.5072T>C (p.Val1691Ala) c.1673T>C (p.Val558Ala) c.2171T>C (p.Val724Ala) n.2628T>C n.1836T>C n.2580T>C n.1409T>C n.3371T>C n.1352T>C n.1745T>C n.8091T>C n.2717T>C n.701T>C n.3135T>C n.1350T>C c.11246T>C (p.Val3749Ala) c.11084T>C (p.Val3695Ala) c.2378T>C (p.Val793Ala) c.701T>C (p.Val234Ala) c.4805T>C (p.Val1602Ala) c.4892T>C (p.Val1631Ala) c.4829T>C (p.Val1610Ala) c.5027T>C (p.Val1676Ala) c.4928T>C (p.Val1643Ala) c.11120T>C (p.Val3707Ala) c.4730T>C (p.Val1577Ala) c.*484T>C (n.*484T>C) c.11063T>C (p.Val3688Ala) c.4607T>C (p.Val1536Ala) c.11060T>C (p.Val3687Ala) c.4706T>C (p.Val1569Ala) c.11291T>C (p.Val3764Ala) c.4841T>C (p.Val1614Ala) c.4826T>C (p.Val1609Ala) c.11327T>C (p.Val3776Ala) c.4814T>C (p.Val1605Ala) c.11048T>C (p.Val3683Ala) c.4766T>C (p.Val1589Ala) c.4964T>C (p.Val1655Ala) c.2555T>C (p.Val852Ala) c.11147T>C (p.Val3716Ala) c.5036T>C (p.Val1679Ala) c.11183T>C (p.Val3728Ala) c.4793T>C (p.Val1598Ala) c.10985T>C (p.Val3662Ala) c.4865T>C (p.Val1622Ala) c.4409T>C (p.Val1470Ala) c.2540T>C (p.Val847Ala) c.10961T>C (p.Val3654Ala) c.2519T>C (p.Val840Ala) c.11192T>C (p.Val3731Ala) c.4757T>C (p.Val1586Ala) c.4499T>C (p.Val1500Ala) c.11021T>C (p.Val3674Ala) c.4991T>C (p.Val1664Ala) c.2276T>C (p.Val759Ala) c.947T>C (p.Val316Ala) c.1995T>C c.*2607T>C (n.*2607T>C) c.11279T>C (p.Val3760Ala) c.4988T>C (p.Val1663Ala) c.11333T>C (p.Val3778Ala) c.11297T>C (p.Val3766Ala) c.5045T>C (p.Val1682Ala) c.5078T>C (p.Val1693Ala) c.5009T>C (p.Val1670Ala) c.11273T>C (p.Val3758Ala) c.11318T>C (p.Val3773Ala) c.5003T>C (p.Val1668Ala) c.4970T>C (p.Val1657Ala) c.5033T>C (p.Val1678Ala) c.4889T>C (p.Val1630Ala) c.5069T>C (p.Val1690Ala) c.4961T>C (p.Val1654Ala) c.4925T>C (p.Val1642Ala) c.4940T>C (p.Val1647Ala) c.4850T>C (p.Val1617Ala) c.4778T>C (p.Val1593Ala) c.4862T>C (p.Val1621Ala) c.4691T>C (p.Val1564Ala) c.11363T>C (p.Val3788Ala) c.11249T>C (p.Val3750Ala) c.11219T>C (p.Val3740Ala) c.11282T>C (p.Val3761Ala) c.11012T>C (p.Val3671Ala) c.4772T>C (p.Val1591Ala) c.4817T>C (p.Val1606Ala) c.4976T>C (p.Val1659Ala) c.5048T>C (p.Val1683Ala) c.4508T>C (p.Val1503Ala) c.4835T>C (p.Val1612Ala) c.7646T>C (p.Val2549Ala) c.1391T>C (p.Val464Ala) c.4856T>C (p.Val1619Ala) | COSMIC |
4 | g.113367779T>G | CA357942283 | ANK2 | c.11387T>G (p.Val3796Gly) c.5072T>G (p.Val1691Gly) c.1673T>G (p.Val558Gly) c.2171T>G (p.Val724Gly) n.2628T>G n.1836T>G n.2580T>G n.1409T>G n.3371T>G n.1352T>G n.1745T>G n.8091T>G n.2717T>G n.701T>G n.3135T>G n.1350T>G c.11246T>G (p.Val3749Gly) c.11084T>G (p.Val3695Gly) c.2378T>G (p.Val793Gly) c.701T>G (p.Val234Gly) c.4805T>G (p.Val1602Gly) c.4892T>G (p.Val1631Gly) c.4829T>G (p.Val1610Gly) c.5027T>G (p.Val1676Gly) c.4928T>G (p.Val1643Gly) c.11120T>G (p.Val3707Gly) c.4730T>G (p.Val1577Gly) c.*484T>G (n.*484T>G) c.11063T>G (p.Val3688Gly) c.4607T>G (p.Val1536Gly) c.11060T>G (p.Val3687Gly) c.4706T>G (p.Val1569Gly) c.11291T>G (p.Val3764Gly) c.4841T>G (p.Val1614Gly) c.4826T>G (p.Val1609Gly) c.11327T>G (p.Val3776Gly) c.4814T>G (p.Val1605Gly) c.11048T>G (p.Val3683Gly) c.4766T>G (p.Val1589Gly) c.4964T>G (p.Val1655Gly) c.2555T>G (p.Val852Gly) c.11147T>G (p.Val3716Gly) c.5036T>G (p.Val1679Gly) c.11183T>G (p.Val3728Gly) c.4793T>G (p.Val1598Gly) c.10985T>G (p.Val3662Gly) c.4865T>G (p.Val1622Gly) c.4409T>G (p.Val1470Gly) c.2540T>G (p.Val847Gly) c.10961T>G (p.Val3654Gly) c.2519T>G (p.Val840Gly) c.11192T>G (p.Val3731Gly) c.4757T>G (p.Val1586Gly) c.4499T>G (p.Val1500Gly) c.11021T>G (p.Val3674Gly) c.4991T>G (p.Val1664Gly) c.2276T>G (p.Val759Gly) c.947T>G (p.Val316Gly) c.1995T>G c.*2607T>G (n.*2607T>G) c.11279T>G (p.Val3760Gly) c.4988T>G (p.Val1663Gly) c.11333T>G (p.Val3778Gly) c.11297T>G (p.Val3766Gly) c.5045T>G (p.Val1682Gly) c.5078T>G (p.Val1693Gly) c.5009T>G (p.Val1670Gly) c.11273T>G (p.Val3758Gly) c.11318T>G (p.Val3773Gly) c.5003T>G (p.Val1668Gly) c.4970T>G (p.Val1657Gly) c.5033T>G (p.Val1678Gly) c.4889T>G (p.Val1630Gly) c.5069T>G (p.Val1690Gly) c.4961T>G (p.Val1654Gly) c.4925T>G (p.Val1642Gly) c.4940T>G (p.Val1647Gly) c.4850T>G (p.Val1617Gly) c.4778T>G (p.Val1593Gly) c.4862T>G (p.Val1621Gly) c.4691T>G (p.Val1564Gly) c.11363T>G (p.Val3788Gly) c.11249T>G (p.Val3750Gly) c.11219T>G (p.Val3740Gly) c.11282T>G (p.Val3761Gly) c.11012T>G (p.Val3671Gly) c.4772T>G (p.Val1591Gly) c.4817T>G (p.Val1606Gly) c.4976T>G (p.Val1659Gly) c.5048T>G (p.Val1683Gly) c.4508T>G (p.Val1503Gly) c.4835T>G (p.Val1612Gly) c.7646T>G (p.Val2549Gly) c.1391T>G (p.Val464Gly) c.4856T>G (p.Val1619Gly) | COSMIC |
4 | g.113367780T>A | CA440833309 | ANK2 | c.11388T>A (p.Val3796=) c.5073T>A (p.Val1691=) c.1674T>A (p.Val558=) c.2172T>A (p.Val724=) n.2629T>A n.1837T>A n.2581T>A n.1410T>A n.3372T>A n.1353T>A n.1746T>A n.8092T>A n.2718T>A n.702T>A n.3136T>A n.1351T>A c.11247T>A (p.Val3749=) c.11085T>A (p.Val3695=) c.2379T>A (p.Val793=) c.702T>A (p.Val234=) c.4806T>A (p.Val1602=) c.4893T>A (p.Val1631=) c.4830T>A (p.Val1610=) c.5028T>A (p.Val1676=) c.4929T>A (p.Val1643=) c.11121T>A (p.Val3707=) c.4731T>A (p.Val1577=) c.*485T>A (n.*485T>A) c.11064T>A (p.Val3688=) c.4608T>A (p.Val1536=) c.11061T>A (p.Val3687=) c.4707T>A (p.Val1569=) c.11292T>A (p.Val3764=) c.4842T>A (p.Val1614=) c.4827T>A (p.Val1609=) c.11328T>A (p.Val3776=) c.4815T>A (p.Val1605=) c.11049T>A (p.Val3683=) c.4767T>A (p.Val1589=) c.4965T>A (p.Val1655=) c.2556T>A (p.Val852=) c.11148T>A (p.Val3716=) c.5037T>A (p.Val1679=) c.11184T>A (p.Val3728=) c.4794T>A (p.Val1598=) c.10986T>A (p.Val3662=) c.4866T>A (p.Val1622=) c.4410T>A (p.Val1470=) c.2541T>A (p.Val847=) c.10962T>A (p.Val3654=) c.2520T>A (p.Val840=) c.11193T>A (p.Val3731=) c.4758T>A (p.Val1586=) c.4500T>A (p.Val1500=) c.11022T>A (p.Val3674=) c.4992T>A (p.Val1664=) c.2277T>A (p.Val759=) c.948T>A (p.Val316=) c.1996T>A c.*2608T>A (n.*2608T>A) c.11280T>A (p.Val3760=) c.4989T>A (p.Val1663=) c.11334T>A (p.Val3778=) c.11298T>A (p.Val3766=) c.5046T>A (p.Val1682=) c.5079T>A (p.Val1693=) c.5010T>A (p.Val1670=) c.11274T>A (p.Val3758=) c.11319T>A (p.Val3773=) c.5004T>A (p.Val1668=) c.4971T>A (p.Val1657=) c.5034T>A (p.Val1678=) c.4890T>A (p.Val1630=) c.5070T>A (p.Val1690=) c.4962T>A (p.Val1654=) c.4926T>A (p.Val1642=) c.4941T>A (p.Val1647=) c.4851T>A (p.Val1617=) c.4779T>A (p.Val1593=) c.4863T>A (p.Val1621=) c.4692T>A (p.Val1564=) c.11364T>A (p.Val3788=) c.11250T>A (p.Val3750=) c.11220T>A (p.Val3740=) c.11283T>A (p.Val3761=) c.11013T>A (p.Val3671=) c.4773T>A (p.Val1591=) c.4818T>A (p.Val1606=) c.4977T>A (p.Val1659=) c.5049T>A (p.Val1683=) c.4509T>A (p.Val1503=) c.4836T>A (p.Val1612=) c.7647T>A (p.Val2549=) c.1392T>A (p.Val464=) c.4857T>A (p.Val1619=) | |
4 | g.113367780T>C | CA440833312 | ANK2 | c.11388T>C (p.Val3796=) c.5073T>C (p.Val1691=) c.1674T>C (p.Val558=) c.2172T>C (p.Val724=) n.2629T>C n.1837T>C n.2581T>C n.1410T>C n.3372T>C n.1353T>C n.1746T>C n.8092T>C n.2718T>C n.702T>C n.3136T>C n.1351T>C c.11247T>C (p.Val3749=) c.11085T>C (p.Val3695=) c.2379T>C (p.Val793=) c.702T>C (p.Val234=) c.4806T>C (p.Val1602=) c.4893T>C (p.Val1631=) c.4830T>C (p.Val1610=) c.5028T>C (p.Val1676=) c.4929T>C (p.Val1643=) c.11121T>C (p.Val3707=) c.4731T>C (p.Val1577=) c.*485T>C (n.*485T>C) c.11064T>C (p.Val3688=) c.4608T>C (p.Val1536=) c.11061T>C (p.Val3687=) c.4707T>C (p.Val1569=) c.11292T>C (p.Val3764=) c.4842T>C (p.Val1614=) c.4827T>C (p.Val1609=) c.11328T>C (p.Val3776=) c.4815T>C (p.Val1605=) c.11049T>C (p.Val3683=) c.4767T>C (p.Val1589=) c.4965T>C (p.Val1655=) c.2556T>C (p.Val852=) c.11148T>C (p.Val3716=) c.5037T>C (p.Val1679=) c.11184T>C (p.Val3728=) c.4794T>C (p.Val1598=) c.10986T>C (p.Val3662=) c.4866T>C (p.Val1622=) c.4410T>C (p.Val1470=) c.2541T>C (p.Val847=) c.10962T>C (p.Val3654=) c.2520T>C (p.Val840=) c.11193T>C (p.Val3731=) c.4758T>C (p.Val1586=) c.4500T>C (p.Val1500=) c.11022T>C (p.Val3674=) c.4992T>C (p.Val1664=) c.2277T>C (p.Val759=) c.948T>C (p.Val316=) c.1996T>C c.*2608T>C (n.*2608T>C) c.11280T>C (p.Val3760=) c.4989T>C (p.Val1663=) c.11334T>C (p.Val3778=) c.11298T>C (p.Val3766=) c.5046T>C (p.Val1682=) c.5079T>C (p.Val1693=) c.5010T>C (p.Val1670=) c.11274T>C (p.Val3758=) c.11319T>C (p.Val3773=) c.5004T>C (p.Val1668=) c.4971T>C (p.Val1657=) c.5034T>C (p.Val1678=) c.4890T>C (p.Val1630=) c.5070T>C (p.Val1690=) c.4962T>C (p.Val1654=) c.4926T>C (p.Val1642=) c.4941T>C (p.Val1647=) c.4851T>C (p.Val1617=) c.4779T>C (p.Val1593=) c.4863T>C (p.Val1621=) c.4692T>C (p.Val1564=) c.11364T>C (p.Val3788=) c.11250T>C (p.Val3750=) c.11220T>C (p.Val3740=) c.11283T>C (p.Val3761=) c.11013T>C (p.Val3671=) c.4773T>C (p.Val1591=) c.4818T>C (p.Val1606=) c.4977T>C (p.Val1659=) c.5049T>C (p.Val1683=) c.4509T>C (p.Val1503=) c.4836T>C (p.Val1612=) c.7647T>C (p.Val2549=) c.1392T>C (p.Val464=) c.4857T>C (p.Val1619=) |