Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.113367664A>C | CA357942032 | ANK2 | c.11272A>C (p.Ile3758Leu) c.4957A>C (p.Ile1653Leu) c.1558A>C (p.Ile520Leu) c.2056A>C (p.Ile686Leu) n.2513A>C n.1721A>C n.2465A>C n.1294A>C n.3256A>C n.1237A>C n.1630A>C n.7976A>C n.2602A>C n.586A>C n.3020A>C n.1235A>C c.11131A>C (p.Ile3711Leu) c.10969A>C (p.Ile3657Leu) c.2263A>C (p.Ile755Leu) c.586A>C (p.Ile196Leu) c.4690A>C (p.Ile1564Leu) c.4777A>C (p.Ile1593Leu) c.4714A>C (p.Ile1572Leu) c.4912A>C (p.Ile1638Leu) c.4813A>C (p.Ile1605Leu) c.11005A>C (p.Ile3669Leu) c.4615A>C (p.Ile1539Leu) c.*369A>C (n.*369A>C) c.10948A>C (p.Ile3650Leu) c.4492A>C (p.Ile1498Leu) c.10945A>C (p.Ile3649Leu) c.4591A>C (p.Ile1531Leu) c.11176A>C (p.Ile3726Leu) c.4726A>C (p.Ile1576Leu) c.4711A>C (p.Ile1571Leu) c.11212A>C (p.Ile3738Leu) c.4699A>C (p.Ile1567Leu) c.10933A>C (p.Ile3645Leu) c.4651A>C (p.Ile1551Leu) c.4849A>C (p.Ile1617Leu) c.2440A>C (p.Ile814Leu) c.11032A>C (p.Ile3678Leu) c.4921A>C (p.Ile1641Leu) c.11068A>C (p.Ile3690Leu) c.4678A>C (p.Ile1560Leu) c.10870A>C (p.Ile3624Leu) c.4750A>C (p.Ile1584Leu) c.4294A>C (p.Ile1432Leu) c.2425A>C (p.Ile809Leu) c.10846A>C (p.Ile3616Leu) c.2404A>C (p.Ile802Leu) c.11077A>C (p.Ile3693Leu) c.4642A>C (p.Ile1548Leu) c.4384A>C (p.Ile1462Leu) c.10906A>C (p.Ile3636Leu) c.4876A>C (p.Ile1626Leu) c.2161A>C (p.Ile721Leu) c.832A>C (p.Ile278Leu) c.1880A>C c.*2492A>C (n.*2492A>C) c.11164A>C (p.Ile3722Leu) c.4873A>C (p.Ile1625Leu) c.11218A>C (p.Ile3740Leu) c.11182A>C (p.Ile3728Leu) c.4930A>C (p.Ile1644Leu) c.4963A>C (p.Ile1655Leu) c.4894A>C (p.Ile1632Leu) c.11158A>C (p.Ile3720Leu) c.11203A>C (p.Ile3735Leu) c.4888A>C (p.Ile1630Leu) c.4855A>C (p.Ile1619Leu) c.4918A>C (p.Ile1640Leu) c.4774A>C (p.Ile1592Leu) c.4954A>C (p.Ile1652Leu) c.4846A>C (p.Ile1616Leu) c.4810A>C (p.Ile1604Leu) c.4825A>C (p.Ile1609Leu) c.4735A>C (p.Ile1579Leu) c.4663A>C (p.Ile1555Leu) c.4747A>C (p.Ile1583Leu) c.4576A>C (p.Ile1526Leu) c.11248A>C (p.Ile3750Leu) c.11134A>C (p.Ile3712Leu) c.11104A>C (p.Ile3702Leu) c.11167A>C (p.Ile3723Leu) c.10897A>C (p.Ile3633Leu) c.4657A>C (p.Ile1553Leu) c.4702A>C (p.Ile1568Leu) c.4861A>C (p.Ile1621Leu) c.4933A>C (p.Ile1645Leu) c.4393A>C (p.Ile1465Leu) c.4720A>C (p.Ile1574Leu) c.7531A>C (p.Ile2511Leu) c.1276A>C (p.Ile426Leu) c.4741A>C (p.Ile1581Leu) | dbSNP gnomAD v4 |
4 | g.113367664A>G | CA3052234 | ANK2 | c.11272A>G (p.Ile3758Val) c.4957A>G (p.Ile1653Val) c.1558A>G (p.Ile520Val) c.2056A>G (p.Ile686Val) n.2513A>G n.1721A>G n.2465A>G n.1294A>G n.3256A>G n.1237A>G n.1630A>G n.7976A>G n.2602A>G n.586A>G n.3020A>G n.1235A>G c.11131A>G (p.Ile3711Val) c.10969A>G (p.Ile3657Val) c.2263A>G (p.Ile755Val) c.586A>G (p.Ile196Val) c.4690A>G (p.Ile1564Val) c.4777A>G (p.Ile1593Val) c.4714A>G (p.Ile1572Val) c.4912A>G (p.Ile1638Val) c.4813A>G (p.Ile1605Val) c.11005A>G (p.Ile3669Val) c.4615A>G (p.Ile1539Val) c.*369A>G (n.*369A>G) c.10948A>G (p.Ile3650Val) c.4492A>G (p.Ile1498Val) c.10945A>G (p.Ile3649Val) c.4591A>G (p.Ile1531Val) c.11176A>G (p.Ile3726Val) c.4726A>G (p.Ile1576Val) c.4711A>G (p.Ile1571Val) c.11212A>G (p.Ile3738Val) c.4699A>G (p.Ile1567Val) c.10933A>G (p.Ile3645Val) c.4651A>G (p.Ile1551Val) c.4849A>G (p.Ile1617Val) c.2440A>G (p.Ile814Val) c.11032A>G (p.Ile3678Val) c.4921A>G (p.Ile1641Val) c.11068A>G (p.Ile3690Val) c.4678A>G (p.Ile1560Val) c.10870A>G (p.Ile3624Val) c.4750A>G (p.Ile1584Val) c.4294A>G (p.Ile1432Val) c.2425A>G (p.Ile809Val) c.10846A>G (p.Ile3616Val) c.2404A>G (p.Ile802Val) c.11077A>G (p.Ile3693Val) c.4642A>G (p.Ile1548Val) c.4384A>G (p.Ile1462Val) c.10906A>G (p.Ile3636Val) c.4876A>G (p.Ile1626Val) c.2161A>G (p.Ile721Val) c.832A>G (p.Ile278Val) c.1880A>G c.*2492A>G (n.*2492A>G) c.11164A>G (p.Ile3722Val) c.4873A>G (p.Ile1625Val) c.11218A>G (p.Ile3740Val) c.11182A>G (p.Ile3728Val) c.4930A>G (p.Ile1644Val) c.4963A>G (p.Ile1655Val) c.4894A>G (p.Ile1632Val) c.11158A>G (p.Ile3720Val) c.11203A>G (p.Ile3735Val) c.4888A>G (p.Ile1630Val) c.4855A>G (p.Ile1619Val) c.4918A>G (p.Ile1640Val) c.4774A>G (p.Ile1592Val) c.4954A>G (p.Ile1652Val) c.4846A>G (p.Ile1616Val) c.4810A>G (p.Ile1604Val) c.4825A>G (p.Ile1609Val) c.4735A>G (p.Ile1579Val) c.4663A>G (p.Ile1555Val) c.4747A>G (p.Ile1583Val) c.4576A>G (p.Ile1526Val) c.11248A>G (p.Ile3750Val) c.11134A>G (p.Ile3712Val) c.11104A>G (p.Ile3702Val) c.11167A>G (p.Ile3723Val) c.10897A>G (p.Ile3633Val) c.4657A>G (p.Ile1553Val) c.4702A>G (p.Ile1568Val) c.4861A>G (p.Ile1621Val) c.4933A>G (p.Ile1645Val) c.4393A>G (p.Ile1465Val) c.4720A>G (p.Ile1574Val) c.7531A>G (p.Ile2511Val) c.1276A>G (p.Ile426Val) c.4741A>G (p.Ile1581Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.113367664A>T | CA357942033 | ANK2 | c.11272A>T (p.Ile3758Phe) c.4957A>T (p.Ile1653Phe) c.1558A>T (p.Ile520Phe) c.2056A>T (p.Ile686Phe) n.2513A>T n.1721A>T n.2465A>T n.1294A>T n.3256A>T n.1237A>T n.1630A>T n.7976A>T n.2602A>T n.586A>T n.3020A>T n.1235A>T c.11131A>T (p.Ile3711Phe) c.10969A>T (p.Ile3657Phe) c.2263A>T (p.Ile755Phe) c.586A>T (p.Ile196Phe) c.4690A>T (p.Ile1564Phe) c.4777A>T (p.Ile1593Phe) c.4714A>T (p.Ile1572Phe) c.4912A>T (p.Ile1638Phe) c.4813A>T (p.Ile1605Phe) c.11005A>T (p.Ile3669Phe) c.4615A>T (p.Ile1539Phe) c.*369A>T (n.*369A>T) c.10948A>T (p.Ile3650Phe) c.4492A>T (p.Ile1498Phe) c.10945A>T (p.Ile3649Phe) c.4591A>T (p.Ile1531Phe) c.11176A>T (p.Ile3726Phe) c.4726A>T (p.Ile1576Phe) c.4711A>T (p.Ile1571Phe) c.11212A>T (p.Ile3738Phe) c.4699A>T (p.Ile1567Phe) c.10933A>T (p.Ile3645Phe) c.4651A>T (p.Ile1551Phe) c.4849A>T (p.Ile1617Phe) c.2440A>T (p.Ile814Phe) c.11032A>T (p.Ile3678Phe) c.4921A>T (p.Ile1641Phe) c.11068A>T (p.Ile3690Phe) c.4678A>T (p.Ile1560Phe) c.10870A>T (p.Ile3624Phe) c.4750A>T (p.Ile1584Phe) c.4294A>T (p.Ile1432Phe) c.2425A>T (p.Ile809Phe) c.10846A>T (p.Ile3616Phe) c.2404A>T (p.Ile802Phe) c.11077A>T (p.Ile3693Phe) c.4642A>T (p.Ile1548Phe) c.4384A>T (p.Ile1462Phe) c.10906A>T (p.Ile3636Phe) c.4876A>T (p.Ile1626Phe) c.2161A>T (p.Ile721Phe) c.832A>T (p.Ile278Phe) c.1880A>T c.*2492A>T (n.*2492A>T) c.11164A>T (p.Ile3722Phe) c.4873A>T (p.Ile1625Phe) c.11218A>T (p.Ile3740Phe) c.11182A>T (p.Ile3728Phe) c.4930A>T (p.Ile1644Phe) c.4963A>T (p.Ile1655Phe) c.4894A>T (p.Ile1632Phe) c.11158A>T (p.Ile3720Phe) c.11203A>T (p.Ile3735Phe) c.4888A>T (p.Ile1630Phe) c.4855A>T (p.Ile1619Phe) c.4918A>T (p.Ile1640Phe) c.4774A>T (p.Ile1592Phe) c.4954A>T (p.Ile1652Phe) c.4846A>T (p.Ile1616Phe) c.4810A>T (p.Ile1604Phe) c.4825A>T (p.Ile1609Phe) c.4735A>T (p.Ile1579Phe) c.4663A>T (p.Ile1555Phe) c.4747A>T (p.Ile1583Phe) c.4576A>T (p.Ile1526Phe) c.11248A>T (p.Ile3750Phe) c.11134A>T (p.Ile3712Phe) c.11104A>T (p.Ile3702Phe) c.11167A>T (p.Ile3723Phe) c.10897A>T (p.Ile3633Phe) c.4657A>T (p.Ile1553Phe) c.4702A>T (p.Ile1568Phe) c.4861A>T (p.Ile1621Phe) c.4933A>T (p.Ile1645Phe) c.4393A>T (p.Ile1465Phe) c.4720A>T (p.Ile1574Phe) c.7531A>T (p.Ile2511Phe) c.1276A>T (p.Ile426Phe) c.4741A>T (p.Ile1581Phe) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.113367665T>A | CA357942034 | ANK2 | c.11273T>A (p.Ile3758Asn) c.4958T>A (p.Ile1653Asn) c.1559T>A (p.Ile520Asn) c.2057T>A (p.Ile686Asn) n.2514T>A n.1722T>A n.2466T>A n.1295T>A n.3257T>A n.1238T>A n.1631T>A n.7977T>A n.2603T>A n.587T>A n.3021T>A n.1236T>A c.11132T>A (p.Ile3711Asn) c.10970T>A (p.Ile3657Asn) c.2264T>A (p.Ile755Asn) c.587T>A (p.Ile196Asn) c.4691T>A (p.Ile1564Asn) c.4778T>A (p.Ile1593Asn) c.4715T>A (p.Ile1572Asn) c.4913T>A (p.Ile1638Asn) c.4814T>A (p.Ile1605Asn) c.11006T>A (p.Ile3669Asn) c.4616T>A (p.Ile1539Asn) c.*370T>A (n.*370T>A) c.10949T>A (p.Ile3650Asn) c.4493T>A (p.Ile1498Asn) c.10946T>A (p.Ile3649Asn) c.4592T>A (p.Ile1531Asn) c.11177T>A (p.Ile3726Asn) c.4727T>A (p.Ile1576Asn) c.4712T>A (p.Ile1571Asn) c.11213T>A (p.Ile3738Asn) c.4700T>A (p.Ile1567Asn) c.10934T>A (p.Ile3645Asn) c.4652T>A (p.Ile1551Asn) c.4850T>A (p.Ile1617Asn) c.2441T>A (p.Ile814Asn) c.11033T>A (p.Ile3678Asn) c.4922T>A (p.Ile1641Asn) c.11069T>A (p.Ile3690Asn) c.4679T>A (p.Ile1560Asn) c.10871T>A (p.Ile3624Asn) c.4751T>A (p.Ile1584Asn) c.4295T>A (p.Ile1432Asn) c.2426T>A (p.Ile809Asn) c.10847T>A (p.Ile3616Asn) c.2405T>A (p.Ile802Asn) c.11078T>A (p.Ile3693Asn) c.4643T>A (p.Ile1548Asn) c.4385T>A (p.Ile1462Asn) c.10907T>A (p.Ile3636Asn) c.4877T>A (p.Ile1626Asn) c.2162T>A (p.Ile721Asn) c.833T>A (p.Ile278Asn) c.1881T>A c.*2493T>A (n.*2493T>A) c.11165T>A (p.Ile3722Asn) c.4874T>A (p.Ile1625Asn) c.11219T>A (p.Ile3740Asn) c.11183T>A (p.Ile3728Asn) c.4931T>A (p.Ile1644Asn) c.4964T>A (p.Ile1655Asn) c.4895T>A (p.Ile1632Asn) c.11159T>A (p.Ile3720Asn) c.11204T>A (p.Ile3735Asn) c.4889T>A (p.Ile1630Asn) c.4856T>A (p.Ile1619Asn) c.4919T>A (p.Ile1640Asn) c.4775T>A (p.Ile1592Asn) c.4955T>A (p.Ile1652Asn) c.4847T>A (p.Ile1616Asn) c.4811T>A (p.Ile1604Asn) c.4826T>A (p.Ile1609Asn) c.4736T>A (p.Ile1579Asn) c.4664T>A (p.Ile1555Asn) c.4748T>A (p.Ile1583Asn) c.4577T>A (p.Ile1526Asn) c.11249T>A (p.Ile3750Asn) c.11135T>A (p.Ile3712Asn) c.11105T>A (p.Ile3702Asn) c.11168T>A (p.Ile3723Asn) c.10898T>A (p.Ile3633Asn) c.4658T>A (p.Ile1553Asn) c.4703T>A (p.Ile1568Asn) c.4862T>A (p.Ile1621Asn) c.4934T>A (p.Ile1645Asn) c.4394T>A (p.Ile1465Asn) c.4721T>A (p.Ile1574Asn) c.7532T>A (p.Ile2511Asn) c.1277T>A (p.Ile426Asn) c.4742T>A (p.Ile1581Asn) | |
4 | g.113367665T>C | CA357942035 | ANK2 | c.11273T>C (p.Ile3758Thr) c.4958T>C (p.Ile1653Thr) c.1559T>C (p.Ile520Thr) c.2057T>C (p.Ile686Thr) n.2514T>C n.1722T>C n.2466T>C n.1295T>C n.3257T>C n.1238T>C n.1631T>C n.7977T>C n.2603T>C n.587T>C n.3021T>C n.1236T>C c.11132T>C (p.Ile3711Thr) c.10970T>C (p.Ile3657Thr) c.2264T>C (p.Ile755Thr) c.587T>C (p.Ile196Thr) c.4691T>C (p.Ile1564Thr) c.4778T>C (p.Ile1593Thr) c.4715T>C (p.Ile1572Thr) c.4913T>C (p.Ile1638Thr) c.4814T>C (p.Ile1605Thr) c.11006T>C (p.Ile3669Thr) c.4616T>C (p.Ile1539Thr) c.*370T>C (n.*370T>C) c.10949T>C (p.Ile3650Thr) c.4493T>C (p.Ile1498Thr) c.10946T>C (p.Ile3649Thr) c.4592T>C (p.Ile1531Thr) c.11177T>C (p.Ile3726Thr) c.4727T>C (p.Ile1576Thr) c.4712T>C (p.Ile1571Thr) c.11213T>C (p.Ile3738Thr) c.4700T>C (p.Ile1567Thr) c.10934T>C (p.Ile3645Thr) c.4652T>C (p.Ile1551Thr) c.4850T>C (p.Ile1617Thr) c.2441T>C (p.Ile814Thr) c.11033T>C (p.Ile3678Thr) c.4922T>C (p.Ile1641Thr) c.11069T>C (p.Ile3690Thr) c.4679T>C (p.Ile1560Thr) c.10871T>C (p.Ile3624Thr) c.4751T>C (p.Ile1584Thr) c.4295T>C (p.Ile1432Thr) c.2426T>C (p.Ile809Thr) c.10847T>C (p.Ile3616Thr) c.2405T>C (p.Ile802Thr) c.11078T>C (p.Ile3693Thr) c.4643T>C (p.Ile1548Thr) c.4385T>C (p.Ile1462Thr) c.10907T>C (p.Ile3636Thr) c.4877T>C (p.Ile1626Thr) c.2162T>C (p.Ile721Thr) c.833T>C (p.Ile278Thr) c.1881T>C c.*2493T>C (n.*2493T>C) c.11165T>C (p.Ile3722Thr) c.4874T>C (p.Ile1625Thr) c.11219T>C (p.Ile3740Thr) c.11183T>C (p.Ile3728Thr) c.4931T>C (p.Ile1644Thr) c.4964T>C (p.Ile1655Thr) c.4895T>C (p.Ile1632Thr) c.11159T>C (p.Ile3720Thr) c.11204T>C (p.Ile3735Thr) c.4889T>C (p.Ile1630Thr) c.4856T>C (p.Ile1619Thr) c.4919T>C (p.Ile1640Thr) c.4775T>C (p.Ile1592Thr) c.4955T>C (p.Ile1652Thr) c.4847T>C (p.Ile1616Thr) c.4811T>C (p.Ile1604Thr) c.4826T>C (p.Ile1609Thr) c.4736T>C (p.Ile1579Thr) c.4664T>C (p.Ile1555Thr) c.4748T>C (p.Ile1583Thr) c.4577T>C (p.Ile1526Thr) c.11249T>C (p.Ile3750Thr) c.11135T>C (p.Ile3712Thr) c.11105T>C (p.Ile3702Thr) c.11168T>C (p.Ile3723Thr) c.10898T>C (p.Ile3633Thr) c.4658T>C (p.Ile1553Thr) c.4703T>C (p.Ile1568Thr) c.4862T>C (p.Ile1621Thr) c.4934T>C (p.Ile1645Thr) c.4394T>C (p.Ile1465Thr) c.4721T>C (p.Ile1574Thr) c.7532T>C (p.Ile2511Thr) c.1277T>C (p.Ile426Thr) c.4742T>C (p.Ile1581Thr) | |
4 | g.113367665T>G | CA357942036 | ANK2 | c.11273T>G (p.Ile3758Ser) c.4958T>G (p.Ile1653Ser) c.1559T>G (p.Ile520Ser) c.2057T>G (p.Ile686Ser) n.2514T>G n.1722T>G n.2466T>G n.1295T>G n.3257T>G n.1238T>G n.1631T>G n.7977T>G n.2603T>G n.587T>G n.3021T>G n.1236T>G c.11132T>G (p.Ile3711Ser) c.10970T>G (p.Ile3657Ser) c.2264T>G (p.Ile755Ser) c.587T>G (p.Ile196Ser) c.4691T>G (p.Ile1564Ser) c.4778T>G (p.Ile1593Ser) c.4715T>G (p.Ile1572Ser) c.4913T>G (p.Ile1638Ser) c.4814T>G (p.Ile1605Ser) c.11006T>G (p.Ile3669Ser) c.4616T>G (p.Ile1539Ser) c.*370T>G (n.*370T>G) c.10949T>G (p.Ile3650Ser) c.4493T>G (p.Ile1498Ser) c.10946T>G (p.Ile3649Ser) c.4592T>G (p.Ile1531Ser) c.11177T>G (p.Ile3726Ser) c.4727T>G (p.Ile1576Ser) c.4712T>G (p.Ile1571Ser) c.11213T>G (p.Ile3738Ser) c.4700T>G (p.Ile1567Ser) c.10934T>G (p.Ile3645Ser) c.4652T>G (p.Ile1551Ser) c.4850T>G (p.Ile1617Ser) c.2441T>G (p.Ile814Ser) c.11033T>G (p.Ile3678Ser) c.4922T>G (p.Ile1641Ser) c.11069T>G (p.Ile3690Ser) c.4679T>G (p.Ile1560Ser) c.10871T>G (p.Ile3624Ser) c.4751T>G (p.Ile1584Ser) c.4295T>G (p.Ile1432Ser) c.2426T>G (p.Ile809Ser) c.10847T>G (p.Ile3616Ser) c.2405T>G (p.Ile802Ser) c.11078T>G (p.Ile3693Ser) c.4643T>G (p.Ile1548Ser) c.4385T>G (p.Ile1462Ser) c.10907T>G (p.Ile3636Ser) c.4877T>G (p.Ile1626Ser) c.2162T>G (p.Ile721Ser) c.833T>G (p.Ile278Ser) c.1881T>G c.*2493T>G (n.*2493T>G) c.11165T>G (p.Ile3722Ser) c.4874T>G (p.Ile1625Ser) c.11219T>G (p.Ile3740Ser) c.11183T>G (p.Ile3728Ser) c.4931T>G (p.Ile1644Ser) c.4964T>G (p.Ile1655Ser) c.4895T>G (p.Ile1632Ser) c.11159T>G (p.Ile3720Ser) c.11204T>G (p.Ile3735Ser) c.4889T>G (p.Ile1630Ser) c.4856T>G (p.Ile1619Ser) c.4919T>G (p.Ile1640Ser) c.4775T>G (p.Ile1592Ser) c.4955T>G (p.Ile1652Ser) c.4847T>G (p.Ile1616Ser) c.4811T>G (p.Ile1604Ser) c.4826T>G (p.Ile1609Ser) c.4736T>G (p.Ile1579Ser) c.4664T>G (p.Ile1555Ser) c.4748T>G (p.Ile1583Ser) c.4577T>G (p.Ile1526Ser) c.11249T>G (p.Ile3750Ser) c.11135T>G (p.Ile3712Ser) c.11105T>G (p.Ile3702Ser) c.11168T>G (p.Ile3723Ser) c.10898T>G (p.Ile3633Ser) c.4658T>G (p.Ile1553Ser) c.4703T>G (p.Ile1568Ser) c.4862T>G (p.Ile1621Ser) c.4934T>G (p.Ile1645Ser) c.4394T>G (p.Ile1465Ser) c.4721T>G (p.Ile1574Ser) c.7532T>G (p.Ile2511Ser) c.1277T>G (p.Ile426Ser) c.4742T>G (p.Ile1581Ser) | |
4 | g.113367666C>A | CA440832057 | ANK2 | c.11274C>A (p.Ile3758=) c.4959C>A (p.Ile1653=) c.1560C>A (p.Ile520=) c.2058C>A (p.Ile686=) n.2515C>A n.1723C>A n.2467C>A n.1296C>A n.3258C>A n.1239C>A n.1632C>A n.7978C>A n.2604C>A n.588C>A n.3022C>A n.1237C>A c.11133C>A (p.Ile3711=) c.10971C>A (p.Ile3657=) c.2265C>A (p.Ile755=) c.588C>A (p.Ile196=) c.4692C>A (p.Ile1564=) c.4779C>A (p.Ile1593=) c.4716C>A (p.Ile1572=) c.4914C>A (p.Ile1638=) c.4815C>A (p.Ile1605=) c.11007C>A (p.Ile3669=) c.4617C>A (p.Ile1539=) c.*371C>A (n.*371C>A) c.10950C>A (p.Ile3650=) c.4494C>A (p.Ile1498=) c.10947C>A (p.Ile3649=) c.4593C>A (p.Ile1531=) c.11178C>A (p.Ile3726=) c.4728C>A (p.Ile1576=) c.4713C>A (p.Ile1571=) c.11214C>A (p.Ile3738=) c.4701C>A (p.Ile1567=) c.10935C>A (p.Ile3645=) c.4653C>A (p.Ile1551=) c.4851C>A (p.Ile1617=) c.2442C>A (p.Ile814=) c.11034C>A (p.Ile3678=) c.4923C>A (p.Ile1641=) c.11070C>A (p.Ile3690=) c.4680C>A (p.Ile1560=) c.10872C>A (p.Ile3624=) c.4752C>A (p.Ile1584=) c.4296C>A (p.Ile1432=) c.2427C>A (p.Ile809=) c.10848C>A (p.Ile3616=) c.2406C>A (p.Ile802=) c.11079C>A (p.Ile3693=) c.4644C>A (p.Ile1548=) c.4386C>A (p.Ile1462=) c.10908C>A (p.Ile3636=) c.4878C>A (p.Ile1626=) c.2163C>A (p.Ile721=) c.834C>A (p.Ile278=) c.1882C>A c.*2494C>A (n.*2494C>A) c.11166C>A (p.Ile3722=) c.4875C>A (p.Ile1625=) c.11220C>A (p.Ile3740=) c.11184C>A (p.Ile3728=) c.4932C>A (p.Ile1644=) c.4965C>A (p.Ile1655=) c.4896C>A (p.Ile1632=) c.11160C>A (p.Ile3720=) c.11205C>A (p.Ile3735=) c.4890C>A (p.Ile1630=) c.4857C>A (p.Ile1619=) c.4920C>A (p.Ile1640=) c.4776C>A (p.Ile1592=) c.4956C>A (p.Ile1652=) c.4848C>A (p.Ile1616=) c.4812C>A (p.Ile1604=) c.4827C>A (p.Ile1609=) c.4737C>A (p.Ile1579=) c.4665C>A (p.Ile1555=) c.4749C>A (p.Ile1583=) c.4578C>A (p.Ile1526=) c.11250C>A (p.Ile3750=) c.11136C>A (p.Ile3712=) c.11106C>A (p.Ile3702=) c.11169C>A (p.Ile3723=) c.10899C>A (p.Ile3633=) c.4659C>A (p.Ile1553=) c.4704C>A (p.Ile1568=) c.4863C>A (p.Ile1621=) c.4935C>A (p.Ile1645=) c.4395C>A (p.Ile1465=) c.4722C>A (p.Ile1574=) c.7533C>A (p.Ile2511=) c.1278C>A (p.Ile426=) c.4743C>A (p.Ile1581=) | |
4 | g.113367666C>G | CA357942037 | ANK2 | c.11274C>G (p.Ile3758Met) c.4959C>G (p.Ile1653Met) c.1560C>G (p.Ile520Met) c.2058C>G (p.Ile686Met) n.2515C>G n.1723C>G n.2467C>G n.1296C>G n.3258C>G n.1239C>G n.1632C>G n.7978C>G n.2604C>G n.588C>G n.3022C>G n.1237C>G c.11133C>G (p.Ile3711Met) c.10971C>G (p.Ile3657Met) c.2265C>G (p.Ile755Met) c.588C>G (p.Ile196Met) c.4692C>G (p.Ile1564Met) c.4779C>G (p.Ile1593Met) c.4716C>G (p.Ile1572Met) c.4914C>G (p.Ile1638Met) c.4815C>G (p.Ile1605Met) c.11007C>G (p.Ile3669Met) c.4617C>G (p.Ile1539Met) c.*371C>G (n.*371C>G) c.10950C>G (p.Ile3650Met) c.4494C>G (p.Ile1498Met) c.10947C>G (p.Ile3649Met) c.4593C>G (p.Ile1531Met) c.11178C>G (p.Ile3726Met) c.4728C>G (p.Ile1576Met) c.4713C>G (p.Ile1571Met) c.11214C>G (p.Ile3738Met) c.4701C>G (p.Ile1567Met) c.10935C>G (p.Ile3645Met) c.4653C>G (p.Ile1551Met) c.4851C>G (p.Ile1617Met) c.2442C>G (p.Ile814Met) c.11034C>G (p.Ile3678Met) c.4923C>G (p.Ile1641Met) c.11070C>G (p.Ile3690Met) c.4680C>G (p.Ile1560Met) c.10872C>G (p.Ile3624Met) c.4752C>G (p.Ile1584Met) c.4296C>G (p.Ile1432Met) c.2427C>G (p.Ile809Met) c.10848C>G (p.Ile3616Met) c.2406C>G (p.Ile802Met) c.11079C>G (p.Ile3693Met) c.4644C>G (p.Ile1548Met) c.4386C>G (p.Ile1462Met) c.10908C>G (p.Ile3636Met) c.4878C>G (p.Ile1626Met) c.2163C>G (p.Ile721Met) c.834C>G (p.Ile278Met) c.1882C>G c.*2494C>G (n.*2494C>G) c.11166C>G (p.Ile3722Met) c.4875C>G (p.Ile1625Met) c.11220C>G (p.Ile3740Met) c.11184C>G (p.Ile3728Met) c.4932C>G (p.Ile1644Met) c.4965C>G (p.Ile1655Met) c.4896C>G (p.Ile1632Met) c.11160C>G (p.Ile3720Met) c.11205C>G (p.Ile3735Met) c.4890C>G (p.Ile1630Met) c.4857C>G (p.Ile1619Met) c.4920C>G (p.Ile1640Met) c.4776C>G (p.Ile1592Met) c.4956C>G (p.Ile1652Met) c.4848C>G (p.Ile1616Met) c.4812C>G (p.Ile1604Met) c.4827C>G (p.Ile1609Met) c.4737C>G (p.Ile1579Met) c.4665C>G (p.Ile1555Met) c.4749C>G (p.Ile1583Met) c.4578C>G (p.Ile1526Met) c.11250C>G (p.Ile3750Met) c.11136C>G (p.Ile3712Met) c.11106C>G (p.Ile3702Met) c.11169C>G (p.Ile3723Met) c.10899C>G (p.Ile3633Met) c.4659C>G (p.Ile1553Met) c.4704C>G (p.Ile1568Met) c.4863C>G (p.Ile1621Met) c.4935C>G (p.Ile1645Met) c.4395C>G (p.Ile1465Met) c.4722C>G (p.Ile1574Met) c.7533C>G (p.Ile2511Met) c.1278C>G (p.Ile426Met) c.4743C>G (p.Ile1581Met) | |
4 | g.113367666C>T | CA3052235 | ANK2 | c.11274C>T (p.Ile3758=) c.4959C>T (p.Ile1653=) c.1560C>T (p.Ile520=) c.2058C>T (p.Ile686=) n.2515C>T n.1723C>T n.2467C>T n.1296C>T n.3258C>T n.1239C>T n.1632C>T n.7978C>T n.2604C>T n.588C>T n.3022C>T n.1237C>T c.11133C>T (p.Ile3711=) c.10971C>T (p.Ile3657=) c.2265C>T (p.Ile755=) c.588C>T (p.Ile196=) c.4692C>T (p.Ile1564=) c.4779C>T (p.Ile1593=) c.4716C>T (p.Ile1572=) c.4914C>T (p.Ile1638=) c.4815C>T (p.Ile1605=) c.11007C>T (p.Ile3669=) c.4617C>T (p.Ile1539=) c.*371C>T (n.*371C>T) c.10950C>T (p.Ile3650=) c.4494C>T (p.Ile1498=) c.10947C>T (p.Ile3649=) c.4593C>T (p.Ile1531=) c.11178C>T (p.Ile3726=) c.4728C>T (p.Ile1576=) c.4713C>T (p.Ile1571=) c.11214C>T (p.Ile3738=) c.4701C>T (p.Ile1567=) c.10935C>T (p.Ile3645=) c.4653C>T (p.Ile1551=) c.4851C>T (p.Ile1617=) c.2442C>T (p.Ile814=) c.11034C>T (p.Ile3678=) c.4923C>T (p.Ile1641=) c.11070C>T (p.Ile3690=) c.4680C>T (p.Ile1560=) c.10872C>T (p.Ile3624=) c.4752C>T (p.Ile1584=) c.4296C>T (p.Ile1432=) c.2427C>T (p.Ile809=) c.10848C>T (p.Ile3616=) c.2406C>T (p.Ile802=) c.11079C>T (p.Ile3693=) c.4644C>T (p.Ile1548=) c.4386C>T (p.Ile1462=) c.10908C>T (p.Ile3636=) c.4878C>T (p.Ile1626=) c.2163C>T (p.Ile721=) c.834C>T (p.Ile278=) c.1882C>T c.*2494C>T (n.*2494C>T) c.11166C>T (p.Ile3722=) c.4875C>T (p.Ile1625=) c.11220C>T (p.Ile3740=) c.11184C>T (p.Ile3728=) c.4932C>T (p.Ile1644=) c.4965C>T (p.Ile1655=) c.4896C>T (p.Ile1632=) c.11160C>T (p.Ile3720=) c.11205C>T (p.Ile3735=) c.4890C>T (p.Ile1630=) c.4857C>T (p.Ile1619=) c.4920C>T (p.Ile1640=) c.4776C>T (p.Ile1592=) c.4956C>T (p.Ile1652=) c.4848C>T (p.Ile1616=) c.4812C>T (p.Ile1604=) c.4827C>T (p.Ile1609=) c.4737C>T (p.Ile1579=) c.4665C>T (p.Ile1555=) c.4749C>T (p.Ile1583=) c.4578C>T (p.Ile1526=) c.11250C>T (p.Ile3750=) c.11136C>T (p.Ile3712=) c.11106C>T (p.Ile3702=) c.11169C>T (p.Ile3723=) c.10899C>T (p.Ile3633=) c.4659C>T (p.Ile1553=) c.4704C>T (p.Ile1568=) c.4863C>T (p.Ile1621=) c.4935C>T (p.Ile1645=) c.4395C>T (p.Ile1465=) c.4722C>T (p.Ile1574=) c.7533C>T (p.Ile2511=) c.1278C>T (p.Ile426=) c.4743C>T (p.Ile1581=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.113367667G>A | CA300943 | ANK2 | c.11275G>A (p.Val3759Ile) c.4960G>A (p.Val1654Ile) c.1561G>A (p.Val521Ile) c.2059G>A (p.Val687Ile) n.2516G>A n.1724G>A n.2468G>A n.1297G>A n.3259G>A n.1240G>A n.1633G>A n.7979G>A n.2605G>A n.589G>A n.3023G>A n.1238G>A c.11134G>A (p.Val3712Ile) c.10972G>A (p.Val3658Ile) c.2266G>A (p.Val756Ile) c.589G>A (p.Val197Ile) c.4693G>A (p.Val1565Ile) c.4780G>A (p.Val1594Ile) c.4717G>A (p.Val1573Ile) c.4915G>A (p.Val1639Ile) c.4816G>A (p.Val1606Ile) c.11008G>A (p.Val3670Ile) c.4618G>A (p.Val1540Ile) c.*372G>A (n.*372G>A) c.10951G>A (p.Val3651Ile) c.4495G>A (p.Val1499Ile) c.10948G>A (p.Val3650Ile) c.4594G>A (p.Val1532Ile) c.11179G>A (p.Val3727Ile) c.4729G>A (p.Val1577Ile) c.4714G>A (p.Val1572Ile) c.11215G>A (p.Val3739Ile) c.4702G>A (p.Val1568Ile) c.10936G>A (p.Val3646Ile) c.4654G>A (p.Val1552Ile) c.4852G>A (p.Val1618Ile) c.2443G>A (p.Val815Ile) c.11035G>A (p.Val3679Ile) c.4924G>A (p.Val1642Ile) c.11071G>A (p.Val3691Ile) c.4681G>A (p.Val1561Ile) c.10873G>A (p.Val3625Ile) c.4753G>A (p.Val1585Ile) c.4297G>A (p.Val1433Ile) c.2428G>A (p.Val810Ile) c.10849G>A (p.Val3617Ile) c.2407G>A (p.Val803Ile) c.11080G>A (p.Val3694Ile) c.4645G>A (p.Val1549Ile) c.4387G>A (p.Val1463Ile) c.10909G>A (p.Val3637Ile) c.4879G>A (p.Val1627Ile) c.2164G>A (p.Val722Ile) c.835G>A (p.Val279Ile) c.1883G>A c.*2495G>A (n.*2495G>A) c.11167G>A (p.Val3723Ile) c.4876G>A (p.Val1626Ile) c.11221G>A (p.Val3741Ile) c.11185G>A (p.Val3729Ile) c.4933G>A (p.Val1645Ile) c.4966G>A (p.Val1656Ile) c.4897G>A (p.Val1633Ile) c.11161G>A (p.Val3721Ile) c.11206G>A (p.Val3736Ile) c.4891G>A (p.Val1631Ile) c.4858G>A (p.Val1620Ile) c.4921G>A (p.Val1641Ile) c.4777G>A (p.Val1593Ile) c.4957G>A (p.Val1653Ile) c.4849G>A (p.Val1617Ile) c.4813G>A (p.Val1605Ile) c.4828G>A (p.Val1610Ile) c.4738G>A (p.Val1580Ile) c.4666G>A (p.Val1556Ile) c.4750G>A (p.Val1584Ile) c.4579G>A (p.Val1527Ile) c.11251G>A (p.Val3751Ile) c.11137G>A (p.Val3713Ile) c.11107G>A (p.Val3703Ile) c.11170G>A (p.Val3724Ile) c.10900G>A (p.Val3634Ile) c.4660G>A (p.Val1554Ile) c.4705G>A (p.Val1569Ile) c.4864G>A (p.Val1622Ile) c.4936G>A (p.Val1646Ile) c.4396G>A (p.Val1466Ile) c.4723G>A (p.Val1575Ile) c.7534G>A (p.Val2512Ile) c.1279G>A (p.Val427Ile) c.4744G>A (p.Val1582Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
4 | g.113367667G>C | CA357942038 | ANK2 | c.11275G>C (p.Val3759Leu) c.4960G>C (p.Val1654Leu) c.1561G>C (p.Val521Leu) c.2059G>C (p.Val687Leu) n.2516G>C n.1724G>C n.2468G>C n.1297G>C n.3259G>C n.1240G>C n.1633G>C n.7979G>C n.2605G>C n.589G>C n.3023G>C n.1238G>C c.11134G>C (p.Val3712Leu) c.10972G>C (p.Val3658Leu) c.2266G>C (p.Val756Leu) c.589G>C (p.Val197Leu) c.4693G>C (p.Val1565Leu) c.4780G>C (p.Val1594Leu) c.4717G>C (p.Val1573Leu) c.4915G>C (p.Val1639Leu) c.4816G>C (p.Val1606Leu) c.11008G>C (p.Val3670Leu) c.4618G>C (p.Val1540Leu) c.*372G>C (n.*372G>C) c.10951G>C (p.Val3651Leu) c.4495G>C (p.Val1499Leu) c.10948G>C (p.Val3650Leu) c.4594G>C (p.Val1532Leu) c.11179G>C (p.Val3727Leu) c.4729G>C (p.Val1577Leu) c.4714G>C (p.Val1572Leu) c.11215G>C (p.Val3739Leu) c.4702G>C (p.Val1568Leu) c.10936G>C (p.Val3646Leu) c.4654G>C (p.Val1552Leu) c.4852G>C (p.Val1618Leu) c.2443G>C (p.Val815Leu) c.11035G>C (p.Val3679Leu) c.4924G>C (p.Val1642Leu) c.11071G>C (p.Val3691Leu) c.4681G>C (p.Val1561Leu) c.10873G>C (p.Val3625Leu) c.4753G>C (p.Val1585Leu) c.4297G>C (p.Val1433Leu) c.2428G>C (p.Val810Leu) c.10849G>C (p.Val3617Leu) c.2407G>C (p.Val803Leu) c.11080G>C (p.Val3694Leu) c.4645G>C (p.Val1549Leu) c.4387G>C (p.Val1463Leu) c.10909G>C (p.Val3637Leu) c.4879G>C (p.Val1627Leu) c.2164G>C (p.Val722Leu) c.835G>C (p.Val279Leu) c.1883G>C c.*2495G>C (n.*2495G>C) c.11167G>C (p.Val3723Leu) c.4876G>C (p.Val1626Leu) c.11221G>C (p.Val3741Leu) c.11185G>C (p.Val3729Leu) c.4933G>C (p.Val1645Leu) c.4966G>C (p.Val1656Leu) c.4897G>C (p.Val1633Leu) c.11161G>C (p.Val3721Leu) c.11206G>C (p.Val3736Leu) c.4891G>C (p.Val1631Leu) c.4858G>C (p.Val1620Leu) c.4921G>C (p.Val1641Leu) c.4777G>C (p.Val1593Leu) c.4957G>C (p.Val1653Leu) c.4849G>C (p.Val1617Leu) c.4813G>C (p.Val1605Leu) c.4828G>C (p.Val1610Leu) c.4738G>C (p.Val1580Leu) c.4666G>C (p.Val1556Leu) c.4750G>C (p.Val1584Leu) c.4579G>C (p.Val1527Leu) c.11251G>C (p.Val3751Leu) c.11137G>C (p.Val3713Leu) c.11107G>C (p.Val3703Leu) c.11170G>C (p.Val3724Leu) c.10900G>C (p.Val3634Leu) c.4660G>C (p.Val1554Leu) c.4705G>C (p.Val1569Leu) c.4864G>C (p.Val1622Leu) c.4936G>C (p.Val1646Leu) c.4396G>C (p.Val1466Leu) c.4723G>C (p.Val1575Leu) c.7534G>C (p.Val2512Leu) c.1279G>C (p.Val427Leu) c.4744G>C (p.Val1582Leu) | |
4 | g.113367667G>T | CA357942039 | ANK2 | c.11275G>T (p.Val3759Phe) c.4960G>T (p.Val1654Phe) c.1561G>T (p.Val521Phe) c.2059G>T (p.Val687Phe) n.2516G>T n.1724G>T n.2468G>T n.1297G>T n.3259G>T n.1240G>T n.1633G>T n.7979G>T n.2605G>T n.589G>T n.3023G>T n.1238G>T c.11134G>T (p.Val3712Phe) c.10972G>T (p.Val3658Phe) c.2266G>T (p.Val756Phe) c.589G>T (p.Val197Phe) c.4693G>T (p.Val1565Phe) c.4780G>T (p.Val1594Phe) c.4717G>T (p.Val1573Phe) c.4915G>T (p.Val1639Phe) c.4816G>T (p.Val1606Phe) c.11008G>T (p.Val3670Phe) c.4618G>T (p.Val1540Phe) c.*372G>T (n.*372G>T) c.10951G>T (p.Val3651Phe) c.4495G>T (p.Val1499Phe) c.10948G>T (p.Val3650Phe) c.4594G>T (p.Val1532Phe) c.11179G>T (p.Val3727Phe) c.4729G>T (p.Val1577Phe) c.4714G>T (p.Val1572Phe) c.11215G>T (p.Val3739Phe) c.4702G>T (p.Val1568Phe) c.10936G>T (p.Val3646Phe) c.4654G>T (p.Val1552Phe) c.4852G>T (p.Val1618Phe) c.2443G>T (p.Val815Phe) c.11035G>T (p.Val3679Phe) c.4924G>T (p.Val1642Phe) c.11071G>T (p.Val3691Phe) c.4681G>T (p.Val1561Phe) c.10873G>T (p.Val3625Phe) c.4753G>T (p.Val1585Phe) c.4297G>T (p.Val1433Phe) c.2428G>T (p.Val810Phe) c.10849G>T (p.Val3617Phe) c.2407G>T (p.Val803Phe) c.11080G>T (p.Val3694Phe) c.4645G>T (p.Val1549Phe) c.4387G>T (p.Val1463Phe) c.10909G>T (p.Val3637Phe) c.4879G>T (p.Val1627Phe) c.2164G>T (p.Val722Phe) c.835G>T (p.Val279Phe) c.1883G>T c.*2495G>T (n.*2495G>T) c.11167G>T (p.Val3723Phe) c.4876G>T (p.Val1626Phe) c.11221G>T (p.Val3741Phe) c.11185G>T (p.Val3729Phe) c.4933G>T (p.Val1645Phe) c.4966G>T (p.Val1656Phe) c.4897G>T (p.Val1633Phe) c.11161G>T (p.Val3721Phe) c.11206G>T (p.Val3736Phe) c.4891G>T (p.Val1631Phe) c.4858G>T (p.Val1620Phe) c.4921G>T (p.Val1641Phe) c.4777G>T (p.Val1593Phe) c.4957G>T (p.Val1653Phe) c.4849G>T (p.Val1617Phe) c.4813G>T (p.Val1605Phe) c.4828G>T (p.Val1610Phe) c.4738G>T (p.Val1580Phe) c.4666G>T (p.Val1556Phe) c.4750G>T (p.Val1584Phe) c.4579G>T (p.Val1527Phe) c.11251G>T (p.Val3751Phe) c.11137G>T (p.Val3713Phe) c.11107G>T (p.Val3703Phe) c.11170G>T (p.Val3724Phe) c.10900G>T (p.Val3634Phe) c.4660G>T (p.Val1554Phe) c.4705G>T (p.Val1569Phe) c.4864G>T (p.Val1622Phe) c.4936G>T (p.Val1646Phe) c.4396G>T (p.Val1466Phe) c.4723G>T (p.Val1575Phe) c.7534G>T (p.Val2512Phe) c.1279G>T (p.Val427Phe) c.4744G>T (p.Val1582Phe) | |
4 | g.113367668T>A | CA357942041 | ANK2 | c.11276T>A (p.Val3759Asp) c.4961T>A (p.Val1654Asp) c.1562T>A (p.Val521Asp) c.2060T>A (p.Val687Asp) n.2517T>A n.1725T>A n.2469T>A n.1298T>A n.3260T>A n.1241T>A n.1634T>A n.7980T>A n.2606T>A n.590T>A n.3024T>A n.1239T>A c.11135T>A (p.Val3712Asp) c.10973T>A (p.Val3658Asp) c.2267T>A (p.Val756Asp) c.590T>A (p.Val197Asp) c.4694T>A (p.Val1565Asp) c.4781T>A (p.Val1594Asp) c.4718T>A (p.Val1573Asp) c.4916T>A (p.Val1639Asp) c.4817T>A (p.Val1606Asp) c.11009T>A (p.Val3670Asp) c.4619T>A (p.Val1540Asp) c.*373T>A (n.*373T>A) c.10952T>A (p.Val3651Asp) c.4496T>A (p.Val1499Asp) c.10949T>A (p.Val3650Asp) c.4595T>A (p.Val1532Asp) c.11180T>A (p.Val3727Asp) c.4730T>A (p.Val1577Asp) c.4715T>A (p.Val1572Asp) c.11216T>A (p.Val3739Asp) c.4703T>A (p.Val1568Asp) c.10937T>A (p.Val3646Asp) c.4655T>A (p.Val1552Asp) c.4853T>A (p.Val1618Asp) c.2444T>A (p.Val815Asp) c.11036T>A (p.Val3679Asp) c.4925T>A (p.Val1642Asp) c.11072T>A (p.Val3691Asp) c.4682T>A (p.Val1561Asp) c.10874T>A (p.Val3625Asp) c.4754T>A (p.Val1585Asp) c.4298T>A (p.Val1433Asp) c.2429T>A (p.Val810Asp) c.10850T>A (p.Val3617Asp) c.2408T>A (p.Val803Asp) c.11081T>A (p.Val3694Asp) c.4646T>A (p.Val1549Asp) c.4388T>A (p.Val1463Asp) c.10910T>A (p.Val3637Asp) c.4880T>A (p.Val1627Asp) c.2165T>A (p.Val722Asp) c.836T>A (p.Val279Asp) c.1884T>A c.*2496T>A (n.*2496T>A) c.11168T>A (p.Val3723Asp) c.4877T>A (p.Val1626Asp) c.11222T>A (p.Val3741Asp) c.11186T>A (p.Val3729Asp) c.4934T>A (p.Val1645Asp) c.4967T>A (p.Val1656Asp) c.4898T>A (p.Val1633Asp) c.11162T>A (p.Val3721Asp) c.11207T>A (p.Val3736Asp) c.4892T>A (p.Val1631Asp) c.4859T>A (p.Val1620Asp) c.4922T>A (p.Val1641Asp) c.4778T>A (p.Val1593Asp) c.4958T>A (p.Val1653Asp) c.4850T>A (p.Val1617Asp) c.4814T>A (p.Val1605Asp) c.4829T>A (p.Val1610Asp) c.4739T>A (p.Val1580Asp) c.4667T>A (p.Val1556Asp) c.4751T>A (p.Val1584Asp) c.4580T>A (p.Val1527Asp) c.11252T>A (p.Val3751Asp) c.11138T>A (p.Val3713Asp) c.11108T>A (p.Val3703Asp) c.11171T>A (p.Val3724Asp) c.10901T>A (p.Val3634Asp) c.4661T>A (p.Val1554Asp) c.4706T>A (p.Val1569Asp) c.4865T>A (p.Val1622Asp) c.4937T>A (p.Val1646Asp) c.4397T>A (p.Val1466Asp) c.4724T>A (p.Val1575Asp) c.7535T>A (p.Val2512Asp) c.1280T>A (p.Val427Asp) c.4745T>A (p.Val1582Asp) | |
4 | g.113367668T>C | CA357942042 | ANK2 | c.11276T>C (p.Val3759Ala) c.4961T>C (p.Val1654Ala) c.1562T>C (p.Val521Ala) c.2060T>C (p.Val687Ala) n.2517T>C n.1725T>C n.2469T>C n.1298T>C n.3260T>C n.1241T>C n.1634T>C n.7980T>C n.2606T>C n.590T>C n.3024T>C n.1239T>C c.11135T>C (p.Val3712Ala) c.10973T>C (p.Val3658Ala) c.2267T>C (p.Val756Ala) c.590T>C (p.Val197Ala) c.4694T>C (p.Val1565Ala) c.4781T>C (p.Val1594Ala) c.4718T>C (p.Val1573Ala) c.4916T>C (p.Val1639Ala) c.4817T>C (p.Val1606Ala) c.11009T>C (p.Val3670Ala) c.4619T>C (p.Val1540Ala) c.*373T>C (n.*373T>C) c.10952T>C (p.Val3651Ala) c.4496T>C (p.Val1499Ala) c.10949T>C (p.Val3650Ala) c.4595T>C (p.Val1532Ala) c.11180T>C (p.Val3727Ala) c.4730T>C (p.Val1577Ala) c.4715T>C (p.Val1572Ala) c.11216T>C (p.Val3739Ala) c.4703T>C (p.Val1568Ala) c.10937T>C (p.Val3646Ala) c.4655T>C (p.Val1552Ala) c.4853T>C (p.Val1618Ala) c.2444T>C (p.Val815Ala) c.11036T>C (p.Val3679Ala) c.4925T>C (p.Val1642Ala) c.11072T>C (p.Val3691Ala) c.4682T>C (p.Val1561Ala) c.10874T>C (p.Val3625Ala) c.4754T>C (p.Val1585Ala) c.4298T>C (p.Val1433Ala) c.2429T>C (p.Val810Ala) c.10850T>C (p.Val3617Ala) c.2408T>C (p.Val803Ala) c.11081T>C (p.Val3694Ala) c.4646T>C (p.Val1549Ala) c.4388T>C (p.Val1463Ala) c.10910T>C (p.Val3637Ala) c.4880T>C (p.Val1627Ala) c.2165T>C (p.Val722Ala) c.836T>C (p.Val279Ala) c.1884T>C c.*2496T>C (n.*2496T>C) c.11168T>C (p.Val3723Ala) c.4877T>C (p.Val1626Ala) c.11222T>C (p.Val3741Ala) c.11186T>C (p.Val3729Ala) c.4934T>C (p.Val1645Ala) c.4967T>C (p.Val1656Ala) c.4898T>C (p.Val1633Ala) c.11162T>C (p.Val3721Ala) c.11207T>C (p.Val3736Ala) c.4892T>C (p.Val1631Ala) c.4859T>C (p.Val1620Ala) c.4922T>C (p.Val1641Ala) c.4778T>C (p.Val1593Ala) c.4958T>C (p.Val1653Ala) c.4850T>C (p.Val1617Ala) c.4814T>C (p.Val1605Ala) c.4829T>C (p.Val1610Ala) c.4739T>C (p.Val1580Ala) c.4667T>C (p.Val1556Ala) c.4751T>C (p.Val1584Ala) c.4580T>C (p.Val1527Ala) c.11252T>C (p.Val3751Ala) c.11138T>C (p.Val3713Ala) c.11108T>C (p.Val3703Ala) c.11171T>C (p.Val3724Ala) c.10901T>C (p.Val3634Ala) c.4661T>C (p.Val1554Ala) c.4706T>C (p.Val1569Ala) c.4865T>C (p.Val1622Ala) c.4937T>C (p.Val1646Ala) c.4397T>C (p.Val1466Ala) c.4724T>C (p.Val1575Ala) c.7535T>C (p.Val2512Ala) c.1280T>C (p.Val427Ala) c.4745T>C (p.Val1582Ala) | |
4 | g.113367668T>G | CA357942040 | ANK2 | c.11276T>G (p.Val3759Gly) c.4961T>G (p.Val1654Gly) c.1562T>G (p.Val521Gly) c.2060T>G (p.Val687Gly) n.2517T>G n.1725T>G n.2469T>G n.1298T>G n.3260T>G n.1241T>G n.1634T>G n.7980T>G n.2606T>G n.590T>G n.3024T>G n.1239T>G c.11135T>G (p.Val3712Gly) c.10973T>G (p.Val3658Gly) c.2267T>G (p.Val756Gly) c.590T>G (p.Val197Gly) c.4694T>G (p.Val1565Gly) c.4781T>G (p.Val1594Gly) c.4718T>G (p.Val1573Gly) c.4916T>G (p.Val1639Gly) c.4817T>G (p.Val1606Gly) c.11009T>G (p.Val3670Gly) c.4619T>G (p.Val1540Gly) c.*373T>G (n.*373T>G) c.10952T>G (p.Val3651Gly) c.4496T>G (p.Val1499Gly) c.10949T>G (p.Val3650Gly) c.4595T>G (p.Val1532Gly) c.11180T>G (p.Val3727Gly) c.4730T>G (p.Val1577Gly) c.4715T>G (p.Val1572Gly) c.11216T>G (p.Val3739Gly) c.4703T>G (p.Val1568Gly) c.10937T>G (p.Val3646Gly) c.4655T>G (p.Val1552Gly) c.4853T>G (p.Val1618Gly) c.2444T>G (p.Val815Gly) c.11036T>G (p.Val3679Gly) c.4925T>G (p.Val1642Gly) c.11072T>G (p.Val3691Gly) c.4682T>G (p.Val1561Gly) c.10874T>G (p.Val3625Gly) c.4754T>G (p.Val1585Gly) c.4298T>G (p.Val1433Gly) c.2429T>G (p.Val810Gly) c.10850T>G (p.Val3617Gly) c.2408T>G (p.Val803Gly) c.11081T>G (p.Val3694Gly) c.4646T>G (p.Val1549Gly) c.4388T>G (p.Val1463Gly) c.10910T>G (p.Val3637Gly) c.4880T>G (p.Val1627Gly) c.2165T>G (p.Val722Gly) c.836T>G (p.Val279Gly) c.1884T>G c.*2496T>G (n.*2496T>G) c.11168T>G (p.Val3723Gly) c.4877T>G (p.Val1626Gly) c.11222T>G (p.Val3741Gly) c.11186T>G (p.Val3729Gly) c.4934T>G (p.Val1645Gly) c.4967T>G (p.Val1656Gly) c.4898T>G (p.Val1633Gly) c.11162T>G (p.Val3721Gly) c.11207T>G (p.Val3736Gly) c.4892T>G (p.Val1631Gly) c.4859T>G (p.Val1620Gly) c.4922T>G (p.Val1641Gly) c.4778T>G (p.Val1593Gly) c.4958T>G (p.Val1653Gly) c.4850T>G (p.Val1617Gly) c.4814T>G (p.Val1605Gly) c.4829T>G (p.Val1610Gly) c.4739T>G (p.Val1580Gly) c.4667T>G (p.Val1556Gly) c.4751T>G (p.Val1584Gly) c.4580T>G (p.Val1527Gly) c.11252T>G (p.Val3751Gly) c.11138T>G (p.Val3713Gly) c.11108T>G (p.Val3703Gly) c.11171T>G (p.Val3724Gly) c.10901T>G (p.Val3634Gly) c.4661T>G (p.Val1554Gly) c.4706T>G (p.Val1569Gly) c.4865T>G (p.Val1622Gly) c.4937T>G (p.Val1646Gly) c.4397T>G (p.Val1466Gly) c.4724T>G (p.Val1575Gly) c.7535T>G (p.Val2512Gly) c.1280T>G (p.Val427Gly) c.4745T>G (p.Val1582Gly) | |
4 | g.113367669C>A | CA440832068 | ANK2 | c.11277C>A (p.Val3759=) c.4962C>A (p.Val1654=) c.1563C>A (p.Val521=) c.2061C>A (p.Val687=) n.2518C>A n.1726C>A n.2470C>A n.1299C>A n.3261C>A n.1242C>A n.1635C>A n.7981C>A n.2607C>A n.591C>A n.3025C>A n.1240C>A c.11136C>A (p.Val3712=) c.10974C>A (p.Val3658=) c.2268C>A (p.Val756=) c.591C>A (p.Val197=) c.4695C>A (p.Val1565=) c.4782C>A (p.Val1594=) c.4719C>A (p.Val1573=) c.4917C>A (p.Val1639=) c.4818C>A (p.Val1606=) c.11010C>A (p.Val3670=) c.4620C>A (p.Val1540=) c.*374C>A (n.*374C>A) c.10953C>A (p.Val3651=) c.4497C>A (p.Val1499=) c.10950C>A (p.Val3650=) c.4596C>A (p.Val1532=) c.11181C>A (p.Val3727=) c.4731C>A (p.Val1577=) c.4716C>A (p.Val1572=) c.11217C>A (p.Val3739=) c.4704C>A (p.Val1568=) c.10938C>A (p.Val3646=) c.4656C>A (p.Val1552=) c.4854C>A (p.Val1618=) c.2445C>A (p.Val815=) c.11037C>A (p.Val3679=) c.4926C>A (p.Val1642=) c.11073C>A (p.Val3691=) c.4683C>A (p.Val1561=) c.10875C>A (p.Val3625=) c.4755C>A (p.Val1585=) c.4299C>A (p.Val1433=) c.2430C>A (p.Val810=) c.10851C>A (p.Val3617=) c.2409C>A (p.Val803=) c.11082C>A (p.Val3694=) c.4647C>A (p.Val1549=) c.4389C>A (p.Val1463=) c.10911C>A (p.Val3637=) c.4881C>A (p.Val1627=) c.2166C>A (p.Val722=) c.837C>A (p.Val279=) c.1885C>A c.*2497C>A (n.*2497C>A) c.11169C>A (p.Val3723=) c.4878C>A (p.Val1626=) c.11223C>A (p.Val3741=) c.11187C>A (p.Val3729=) c.4935C>A (p.Val1645=) c.4968C>A (p.Val1656=) c.4899C>A (p.Val1633=) c.11163C>A (p.Val3721=) c.11208C>A (p.Val3736=) c.4893C>A (p.Val1631=) c.4860C>A (p.Val1620=) c.4923C>A (p.Val1641=) c.4779C>A (p.Val1593=) c.4959C>A (p.Val1653=) c.4851C>A (p.Val1617=) c.4815C>A (p.Val1605=) c.4830C>A (p.Val1610=) c.4740C>A (p.Val1580=) c.4668C>A (p.Val1556=) c.4752C>A (p.Val1584=) c.4581C>A (p.Val1527=) c.11253C>A (p.Val3751=) c.11139C>A (p.Val3713=) c.11109C>A (p.Val3703=) c.11172C>A (p.Val3724=) c.10902C>A (p.Val3634=) c.4662C>A (p.Val1554=) c.4707C>A (p.Val1569=) c.4866C>A (p.Val1622=) c.4938C>A (p.Val1646=) c.4398C>A (p.Val1466=) c.4725C>A (p.Val1575=) c.7536C>A (p.Val2512=) c.1281C>A (p.Val427=) c.4746C>A (p.Val1582=) | |
4 | g.113367669C>G | CA440832070 | ANK2 | c.11277C>G (p.Val3759=) c.4962C>G (p.Val1654=) c.1563C>G (p.Val521=) c.2061C>G (p.Val687=) n.2518C>G n.1726C>G n.2470C>G n.1299C>G n.3261C>G n.1242C>G n.1635C>G n.7981C>G n.2607C>G n.591C>G n.3025C>G n.1240C>G c.11136C>G (p.Val3712=) c.10974C>G (p.Val3658=) c.2268C>G (p.Val756=) c.591C>G (p.Val197=) c.4695C>G (p.Val1565=) c.4782C>G (p.Val1594=) c.4719C>G (p.Val1573=) c.4917C>G (p.Val1639=) c.4818C>G (p.Val1606=) c.11010C>G (p.Val3670=) c.4620C>G (p.Val1540=) c.*374C>G (n.*374C>G) c.10953C>G (p.Val3651=) c.4497C>G (p.Val1499=) c.10950C>G (p.Val3650=) c.4596C>G (p.Val1532=) c.11181C>G (p.Val3727=) c.4731C>G (p.Val1577=) c.4716C>G (p.Val1572=) c.11217C>G (p.Val3739=) c.4704C>G (p.Val1568=) c.10938C>G (p.Val3646=) c.4656C>G (p.Val1552=) c.4854C>G (p.Val1618=) c.2445C>G (p.Val815=) c.11037C>G (p.Val3679=) c.4926C>G (p.Val1642=) c.11073C>G (p.Val3691=) c.4683C>G (p.Val1561=) c.10875C>G (p.Val3625=) c.4755C>G (p.Val1585=) c.4299C>G (p.Val1433=) c.2430C>G (p.Val810=) c.10851C>G (p.Val3617=) c.2409C>G (p.Val803=) c.11082C>G (p.Val3694=) c.4647C>G (p.Val1549=) c.4389C>G (p.Val1463=) c.10911C>G (p.Val3637=) c.4881C>G (p.Val1627=) c.2166C>G (p.Val722=) c.837C>G (p.Val279=) c.1885C>G c.*2497C>G (n.*2497C>G) c.11169C>G (p.Val3723=) c.4878C>G (p.Val1626=) c.11223C>G (p.Val3741=) c.11187C>G (p.Val3729=) c.4935C>G (p.Val1645=) c.4968C>G (p.Val1656=) c.4899C>G (p.Val1633=) c.11163C>G (p.Val3721=) c.11208C>G (p.Val3736=) c.4893C>G (p.Val1631=) c.4860C>G (p.Val1620=) c.4923C>G (p.Val1641=) c.4779C>G (p.Val1593=) c.4959C>G (p.Val1653=) c.4851C>G (p.Val1617=) c.4815C>G (p.Val1605=) c.4830C>G (p.Val1610=) c.4740C>G (p.Val1580=) c.4668C>G (p.Val1556=) c.4752C>G (p.Val1584=) c.4581C>G (p.Val1527=) c.11253C>G (p.Val3751=) c.11139C>G (p.Val3713=) c.11109C>G (p.Val3703=) c.11172C>G (p.Val3724=) c.10902C>G (p.Val3634=) c.4662C>G (p.Val1554=) c.4707C>G (p.Val1569=) c.4866C>G (p.Val1622=) c.4938C>G (p.Val1646=) c.4398C>G (p.Val1466=) c.4725C>G (p.Val1575=) c.7536C>G (p.Val2512=) c.1281C>G (p.Val427=) c.4746C>G (p.Val1582=) | |
4 | g.113367669C>T | CA440832073 | ANK2 | c.11277C>T (p.Val3759=) c.4962C>T (p.Val1654=) c.1563C>T (p.Val521=) c.2061C>T (p.Val687=) n.2518C>T n.1726C>T n.2470C>T n.1299C>T n.3261C>T n.1242C>T n.1635C>T n.7981C>T n.2607C>T n.591C>T n.3025C>T n.1240C>T c.11136C>T (p.Val3712=) c.10974C>T (p.Val3658=) c.2268C>T (p.Val756=) c.591C>T (p.Val197=) c.4695C>T (p.Val1565=) c.4782C>T (p.Val1594=) c.4719C>T (p.Val1573=) c.4917C>T (p.Val1639=) c.4818C>T (p.Val1606=) c.11010C>T (p.Val3670=) c.4620C>T (p.Val1540=) c.*374C>T (n.*374C>T) c.10953C>T (p.Val3651=) c.4497C>T (p.Val1499=) c.10950C>T (p.Val3650=) c.4596C>T (p.Val1532=) c.11181C>T (p.Val3727=) c.4731C>T (p.Val1577=) c.4716C>T (p.Val1572=) c.11217C>T (p.Val3739=) c.4704C>T (p.Val1568=) c.10938C>T (p.Val3646=) c.4656C>T (p.Val1552=) c.4854C>T (p.Val1618=) c.2445C>T (p.Val815=) c.11037C>T (p.Val3679=) c.4926C>T (p.Val1642=) c.11073C>T (p.Val3691=) c.4683C>T (p.Val1561=) c.10875C>T (p.Val3625=) c.4755C>T (p.Val1585=) c.4299C>T (p.Val1433=) c.2430C>T (p.Val810=) c.10851C>T (p.Val3617=) c.2409C>T (p.Val803=) c.11082C>T (p.Val3694=) c.4647C>T (p.Val1549=) c.4389C>T (p.Val1463=) c.10911C>T (p.Val3637=) c.4881C>T (p.Val1627=) c.2166C>T (p.Val722=) c.837C>T (p.Val279=) c.1885C>T c.*2497C>T (n.*2497C>T) c.11169C>T (p.Val3723=) c.4878C>T (p.Val1626=) c.11223C>T (p.Val3741=) c.11187C>T (p.Val3729=) c.4935C>T (p.Val1645=) c.4968C>T (p.Val1656=) c.4899C>T (p.Val1633=) c.11163C>T (p.Val3721=) c.11208C>T (p.Val3736=) c.4893C>T (p.Val1631=) c.4860C>T (p.Val1620=) c.4923C>T (p.Val1641=) c.4779C>T (p.Val1593=) c.4959C>T (p.Val1653=) c.4851C>T (p.Val1617=) c.4815C>T (p.Val1605=) c.4830C>T (p.Val1610=) c.4740C>T (p.Val1580=) c.4668C>T (p.Val1556=) c.4752C>T (p.Val1584=) c.4581C>T (p.Val1527=) c.11253C>T (p.Val3751=) c.11139C>T (p.Val3713=) c.11109C>T (p.Val3703=) c.11172C>T (p.Val3724=) c.10902C>T (p.Val3634=) c.4662C>T (p.Val1554=) c.4707C>T (p.Val1569=) c.4866C>T (p.Val1622=) c.4938C>T (p.Val1646=) c.4398C>T (p.Val1466=) c.4725C>T (p.Val1575=) c.7536C>T (p.Val2512=) c.1281C>T (p.Val427=) c.4746C>T (p.Val1582=) | dbSNP |
4 | g.113367670T>A | CA357942043 | ANK2 | c.11278T>A (p.Ser3760Thr) c.4963T>A (p.Ser1655Thr) c.1564T>A (p.Ser522Thr) c.2062T>A (p.Ser688Thr) n.2519T>A n.1727T>A n.2471T>A n.1300T>A n.3262T>A n.1243T>A n.1636T>A n.7982T>A n.2608T>A n.592T>A n.3026T>A n.1241T>A c.11137T>A (p.Ser3713Thr) c.10975T>A (p.Ser3659Thr) c.2269T>A (p.Ser757Thr) c.592T>A (p.Ser198Thr) c.4696T>A (p.Ser1566Thr) c.4783T>A (p.Ser1595Thr) c.4720T>A (p.Ser1574Thr) c.4918T>A (p.Ser1640Thr) c.4819T>A (p.Ser1607Thr) c.11011T>A (p.Ser3671Thr) c.4621T>A (p.Ser1541Thr) c.*375T>A (n.*375T>A) c.10954T>A (p.Ser3652Thr) c.4498T>A (p.Ser1500Thr) c.10951T>A (p.Ser3651Thr) c.4597T>A (p.Ser1533Thr) c.11182T>A (p.Ser3728Thr) c.4732T>A (p.Ser1578Thr) c.4717T>A (p.Ser1573Thr) c.11218T>A (p.Ser3740Thr) c.4705T>A (p.Ser1569Thr) c.10939T>A (p.Ser3647Thr) c.4657T>A (p.Ser1553Thr) c.4855T>A (p.Ser1619Thr) c.2446T>A (p.Ser816Thr) c.11038T>A (p.Ser3680Thr) c.4927T>A (p.Ser1643Thr) c.11074T>A (p.Ser3692Thr) c.4684T>A (p.Ser1562Thr) c.10876T>A (p.Ser3626Thr) c.4756T>A (p.Ser1586Thr) c.4300T>A (p.Ser1434Thr) c.2431T>A (p.Ser811Thr) c.10852T>A (p.Ser3618Thr) c.2410T>A (p.Ser804Thr) c.11083T>A (p.Ser3695Thr) c.4648T>A (p.Ser1550Thr) c.4390T>A (p.Ser1464Thr) c.10912T>A (p.Ser3638Thr) c.4882T>A (p.Ser1628Thr) c.2167T>A (p.Ser723Thr) c.838T>A (p.Ser280Thr) c.1886T>A c.*2498T>A (n.*2498T>A) c.11170T>A (p.Ser3724Thr) c.4879T>A (p.Ser1627Thr) c.11224T>A (p.Ser3742Thr) c.11188T>A (p.Ser3730Thr) c.4936T>A (p.Ser1646Thr) c.4969T>A (p.Ser1657Thr) c.4900T>A (p.Ser1634Thr) c.11164T>A (p.Ser3722Thr) c.11209T>A (p.Ser3737Thr) c.4894T>A (p.Ser1632Thr) c.4861T>A (p.Ser1621Thr) c.4924T>A (p.Ser1642Thr) c.4780T>A (p.Ser1594Thr) c.4960T>A (p.Ser1654Thr) c.4852T>A (p.Ser1618Thr) c.4816T>A (p.Ser1606Thr) c.4831T>A (p.Ser1611Thr) c.4741T>A (p.Ser1581Thr) c.4669T>A (p.Ser1557Thr) c.4753T>A (p.Ser1585Thr) c.4582T>A (p.Ser1528Thr) c.11254T>A (p.Ser3752Thr) c.11140T>A (p.Ser3714Thr) c.11110T>A (p.Ser3704Thr) c.11173T>A (p.Ser3725Thr) c.10903T>A (p.Ser3635Thr) c.4663T>A (p.Ser1555Thr) c.4708T>A (p.Ser1570Thr) c.4867T>A (p.Ser1623Thr) c.4939T>A (p.Ser1647Thr) c.4399T>A (p.Ser1467Thr) c.4726T>A (p.Ser1576Thr) c.7537T>A (p.Ser2513Thr) c.1282T>A (p.Ser428Thr) c.4747T>A (p.Ser1583Thr) | |
4 | g.113367670T>C | CA357942044 | ANK2 | c.11278T>C (p.Ser3760Pro) c.4963T>C (p.Ser1655Pro) c.1564T>C (p.Ser522Pro) c.2062T>C (p.Ser688Pro) n.2519T>C n.1727T>C n.2471T>C n.1300T>C n.3262T>C n.1243T>C n.1636T>C n.7982T>C n.2608T>C n.592T>C n.3026T>C n.1241T>C c.11137T>C (p.Ser3713Pro) c.10975T>C (p.Ser3659Pro) c.2269T>C (p.Ser757Pro) c.592T>C (p.Ser198Pro) c.4696T>C (p.Ser1566Pro) c.4783T>C (p.Ser1595Pro) c.4720T>C (p.Ser1574Pro) c.4918T>C (p.Ser1640Pro) c.4819T>C (p.Ser1607Pro) c.11011T>C (p.Ser3671Pro) c.4621T>C (p.Ser1541Pro) c.*375T>C (n.*375T>C) c.10954T>C (p.Ser3652Pro) c.4498T>C (p.Ser1500Pro) c.10951T>C (p.Ser3651Pro) c.4597T>C (p.Ser1533Pro) c.11182T>C (p.Ser3728Pro) c.4732T>C (p.Ser1578Pro) c.4717T>C (p.Ser1573Pro) c.11218T>C (p.Ser3740Pro) c.4705T>C (p.Ser1569Pro) c.10939T>C (p.Ser3647Pro) c.4657T>C (p.Ser1553Pro) c.4855T>C (p.Ser1619Pro) c.2446T>C (p.Ser816Pro) c.11038T>C (p.Ser3680Pro) c.4927T>C (p.Ser1643Pro) c.11074T>C (p.Ser3692Pro) c.4684T>C (p.Ser1562Pro) c.10876T>C (p.Ser3626Pro) c.4756T>C (p.Ser1586Pro) c.4300T>C (p.Ser1434Pro) c.2431T>C (p.Ser811Pro) c.10852T>C (p.Ser3618Pro) c.2410T>C (p.Ser804Pro) c.11083T>C (p.Ser3695Pro) c.4648T>C (p.Ser1550Pro) c.4390T>C (p.Ser1464Pro) c.10912T>C (p.Ser3638Pro) c.4882T>C (p.Ser1628Pro) c.2167T>C (p.Ser723Pro) c.838T>C (p.Ser280Pro) c.1886T>C c.*2498T>C (n.*2498T>C) c.11170T>C (p.Ser3724Pro) c.4879T>C (p.Ser1627Pro) c.11224T>C (p.Ser3742Pro) c.11188T>C (p.Ser3730Pro) c.4936T>C (p.Ser1646Pro) c.4969T>C (p.Ser1657Pro) c.4900T>C (p.Ser1634Pro) c.11164T>C (p.Ser3722Pro) c.11209T>C (p.Ser3737Pro) c.4894T>C (p.Ser1632Pro) c.4861T>C (p.Ser1621Pro) c.4924T>C (p.Ser1642Pro) c.4780T>C (p.Ser1594Pro) c.4960T>C (p.Ser1654Pro) c.4852T>C (p.Ser1618Pro) c.4816T>C (p.Ser1606Pro) c.4831T>C (p.Ser1611Pro) c.4741T>C (p.Ser1581Pro) c.4669T>C (p.Ser1557Pro) c.4753T>C (p.Ser1585Pro) c.4582T>C (p.Ser1528Pro) c.11254T>C (p.Ser3752Pro) c.11140T>C (p.Ser3714Pro) c.11110T>C (p.Ser3704Pro) c.11173T>C (p.Ser3725Pro) c.10903T>C (p.Ser3635Pro) c.4663T>C (p.Ser1555Pro) c.4708T>C (p.Ser1570Pro) c.4867T>C (p.Ser1623Pro) c.4939T>C (p.Ser1647Pro) c.4399T>C (p.Ser1467Pro) c.4726T>C (p.Ser1576Pro) c.7537T>C (p.Ser2513Pro) c.1282T>C (p.Ser428Pro) c.4747T>C (p.Ser1583Pro) | |
4 | g.113367670T>G | CA357942045 | ANK2 | c.11278T>G (p.Ser3760Ala) c.4963T>G (p.Ser1655Ala) c.1564T>G (p.Ser522Ala) c.2062T>G (p.Ser688Ala) n.2519T>G n.1727T>G n.2471T>G n.1300T>G n.3262T>G n.1243T>G n.1636T>G n.7982T>G n.2608T>G n.592T>G n.3026T>G n.1241T>G c.11137T>G (p.Ser3713Ala) c.10975T>G (p.Ser3659Ala) c.2269T>G (p.Ser757Ala) c.592T>G (p.Ser198Ala) c.4696T>G (p.Ser1566Ala) c.4783T>G (p.Ser1595Ala) c.4720T>G (p.Ser1574Ala) c.4918T>G (p.Ser1640Ala) c.4819T>G (p.Ser1607Ala) c.11011T>G (p.Ser3671Ala) c.4621T>G (p.Ser1541Ala) c.*375T>G (n.*375T>G) c.10954T>G (p.Ser3652Ala) c.4498T>G (p.Ser1500Ala) c.10951T>G (p.Ser3651Ala) c.4597T>G (p.Ser1533Ala) c.11182T>G (p.Ser3728Ala) c.4732T>G (p.Ser1578Ala) c.4717T>G (p.Ser1573Ala) c.11218T>G (p.Ser3740Ala) c.4705T>G (p.Ser1569Ala) c.10939T>G (p.Ser3647Ala) c.4657T>G (p.Ser1553Ala) c.4855T>G (p.Ser1619Ala) c.2446T>G (p.Ser816Ala) c.11038T>G (p.Ser3680Ala) c.4927T>G (p.Ser1643Ala) c.11074T>G (p.Ser3692Ala) c.4684T>G (p.Ser1562Ala) c.10876T>G (p.Ser3626Ala) c.4756T>G (p.Ser1586Ala) c.4300T>G (p.Ser1434Ala) c.2431T>G (p.Ser811Ala) c.10852T>G (p.Ser3618Ala) c.2410T>G (p.Ser804Ala) c.11083T>G (p.Ser3695Ala) c.4648T>G (p.Ser1550Ala) c.4390T>G (p.Ser1464Ala) c.10912T>G (p.Ser3638Ala) c.4882T>G (p.Ser1628Ala) c.2167T>G (p.Ser723Ala) c.838T>G (p.Ser280Ala) c.1886T>G c.*2498T>G (n.*2498T>G) c.11170T>G (p.Ser3724Ala) c.4879T>G (p.Ser1627Ala) c.11224T>G (p.Ser3742Ala) c.11188T>G (p.Ser3730Ala) c.4936T>G (p.Ser1646Ala) c.4969T>G (p.Ser1657Ala) c.4900T>G (p.Ser1634Ala) c.11164T>G (p.Ser3722Ala) c.11209T>G (p.Ser3737Ala) c.4894T>G (p.Ser1632Ala) c.4861T>G (p.Ser1621Ala) c.4924T>G (p.Ser1642Ala) c.4780T>G (p.Ser1594Ala) c.4960T>G (p.Ser1654Ala) c.4852T>G (p.Ser1618Ala) c.4816T>G (p.Ser1606Ala) c.4831T>G (p.Ser1611Ala) c.4741T>G (p.Ser1581Ala) c.4669T>G (p.Ser1557Ala) c.4753T>G (p.Ser1585Ala) c.4582T>G (p.Ser1528Ala) c.11254T>G (p.Ser3752Ala) c.11140T>G (p.Ser3714Ala) c.11110T>G (p.Ser3704Ala) c.11173T>G (p.Ser3725Ala) c.10903T>G (p.Ser3635Ala) c.4663T>G (p.Ser1555Ala) c.4708T>G (p.Ser1570Ala) c.4867T>G (p.Ser1623Ala) c.4939T>G (p.Ser1647Ala) c.4399T>G (p.Ser1467Ala) c.4726T>G (p.Ser1576Ala) c.7537T>G (p.Ser2513Ala) c.1282T>G (p.Ser428Ala) c.4747T>G (p.Ser1583Ala) | gnomAD v4 |
4 | g.113367671C>A | CA357942046 | ANK2 | c.11279C>A (p.Ser3760Ter) c.4964C>A (p.Ser1655Ter) c.1565C>A (p.Ser522Ter) c.2063C>A (p.Ser688Ter) n.2520C>A n.1728C>A n.2472C>A n.1301C>A n.3263C>A n.1244C>A n.1637C>A n.7983C>A n.2609C>A n.593C>A n.3027C>A n.1242C>A c.11138C>A (p.Ser3713Ter) c.10976C>A (p.Ser3659Ter) c.2270C>A (p.Ser757Ter) c.593C>A (p.Ser198Ter) c.4697C>A (p.Ser1566Ter) c.4784C>A (p.Ser1595Ter) c.4721C>A (p.Ser1574Ter) c.4919C>A (p.Ser1640Ter) c.4820C>A (p.Ser1607Ter) c.11012C>A (p.Ser3671Ter) c.4622C>A (p.Ser1541Ter) c.*376C>A (n.*376C>A) c.10955C>A (p.Ser3652Ter) c.4499C>A (p.Ser1500Ter) c.10952C>A (p.Ser3651Ter) c.4598C>A (p.Ser1533Ter) c.11183C>A (p.Ser3728Ter) c.4733C>A (p.Ser1578Ter) c.4718C>A (p.Ser1573Ter) c.11219C>A (p.Ser3740Ter) c.4706C>A (p.Ser1569Ter) c.10940C>A (p.Ser3647Ter) c.4658C>A (p.Ser1553Ter) c.4856C>A (p.Ser1619Ter) c.2447C>A (p.Ser816Ter) c.11039C>A (p.Ser3680Ter) c.4928C>A (p.Ser1643Ter) c.11075C>A (p.Ser3692Ter) c.4685C>A (p.Ser1562Ter) c.10877C>A (p.Ser3626Ter) c.4757C>A (p.Ser1586Ter) c.4301C>A (p.Ser1434Ter) c.2432C>A (p.Ser811Ter) c.10853C>A (p.Ser3618Ter) c.2411C>A (p.Ser804Ter) c.11084C>A (p.Ser3695Ter) c.4649C>A (p.Ser1550Ter) c.4391C>A (p.Ser1464Ter) c.10913C>A (p.Ser3638Ter) c.4883C>A (p.Ser1628Ter) c.2168C>A (p.Ser723Ter) c.839C>A (p.Ser280Ter) c.1887C>A c.*2499C>A (n.*2499C>A) c.11171C>A (p.Ser3724Ter) c.4880C>A (p.Ser1627Ter) c.11225C>A (p.Ser3742Ter) c.11189C>A (p.Ser3730Ter) c.4937C>A (p.Ser1646Ter) c.4970C>A (p.Ser1657Ter) c.4901C>A (p.Ser1634Ter) c.11165C>A (p.Ser3722Ter) c.11210C>A (p.Ser3737Ter) c.4895C>A (p.Ser1632Ter) c.4862C>A (p.Ser1621Ter) c.4925C>A (p.Ser1642Ter) c.4781C>A (p.Ser1594Ter) c.4961C>A (p.Ser1654Ter) c.4853C>A (p.Ser1618Ter) c.4817C>A (p.Ser1606Ter) c.4832C>A (p.Ser1611Ter) c.4742C>A (p.Ser1581Ter) c.4670C>A (p.Ser1557Ter) c.4754C>A (p.Ser1585Ter) c.4583C>A (p.Ser1528Ter) c.11255C>A (p.Ser3752Ter) c.11141C>A (p.Ser3714Ter) c.11111C>A (p.Ser3704Ter) c.11174C>A (p.Ser3725Ter) c.10904C>A (p.Ser3635Ter) c.4664C>A (p.Ser1555Ter) c.4709C>A (p.Ser1570Ter) c.4868C>A (p.Ser1623Ter) c.4940C>A (p.Ser1647Ter) c.4400C>A (p.Ser1467Ter) c.4727C>A (p.Ser1576Ter) c.7538C>A (p.Ser2513Ter) c.1283C>A (p.Ser428Ter) c.4748C>A (p.Ser1583Ter) | dbSNP |
4 | g.113367671C>G | CA357942047 | ANK2 | c.11279C>G (p.Ser3760Ter) c.4964C>G (p.Ser1655Ter) c.1565C>G (p.Ser522Ter) c.2063C>G (p.Ser688Ter) n.2520C>G n.1728C>G n.2472C>G n.1301C>G n.3263C>G n.1244C>G n.1637C>G n.7983C>G n.2609C>G n.593C>G n.3027C>G n.1242C>G c.11138C>G (p.Ser3713Ter) c.10976C>G (p.Ser3659Ter) c.2270C>G (p.Ser757Ter) c.593C>G (p.Ser198Ter) c.4697C>G (p.Ser1566Ter) c.4784C>G (p.Ser1595Ter) c.4721C>G (p.Ser1574Ter) c.4919C>G (p.Ser1640Ter) c.4820C>G (p.Ser1607Ter) c.11012C>G (p.Ser3671Ter) c.4622C>G (p.Ser1541Ter) c.*376C>G (n.*376C>G) c.10955C>G (p.Ser3652Ter) c.4499C>G (p.Ser1500Ter) c.10952C>G (p.Ser3651Ter) c.4598C>G (p.Ser1533Ter) c.11183C>G (p.Ser3728Ter) c.4733C>G (p.Ser1578Ter) c.4718C>G (p.Ser1573Ter) c.11219C>G (p.Ser3740Ter) c.4706C>G (p.Ser1569Ter) c.10940C>G (p.Ser3647Ter) c.4658C>G (p.Ser1553Ter) c.4856C>G (p.Ser1619Ter) c.2447C>G (p.Ser816Ter) c.11039C>G (p.Ser3680Ter) c.4928C>G (p.Ser1643Ter) c.11075C>G (p.Ser3692Ter) c.4685C>G (p.Ser1562Ter) c.10877C>G (p.Ser3626Ter) c.4757C>G (p.Ser1586Ter) c.4301C>G (p.Ser1434Ter) c.2432C>G (p.Ser811Ter) c.10853C>G (p.Ser3618Ter) c.2411C>G (p.Ser804Ter) c.11084C>G (p.Ser3695Ter) c.4649C>G (p.Ser1550Ter) c.4391C>G (p.Ser1464Ter) c.10913C>G (p.Ser3638Ter) c.4883C>G (p.Ser1628Ter) c.2168C>G (p.Ser723Ter) c.839C>G (p.Ser280Ter) c.1887C>G c.*2499C>G (n.*2499C>G) c.11171C>G (p.Ser3724Ter) c.4880C>G (p.Ser1627Ter) c.11225C>G (p.Ser3742Ter) c.11189C>G (p.Ser3730Ter) c.4937C>G (p.Ser1646Ter) c.4970C>G (p.Ser1657Ter) c.4901C>G (p.Ser1634Ter) c.11165C>G (p.Ser3722Ter) c.11210C>G (p.Ser3737Ter) c.4895C>G (p.Ser1632Ter) c.4862C>G (p.Ser1621Ter) c.4925C>G (p.Ser1642Ter) c.4781C>G (p.Ser1594Ter) c.4961C>G (p.Ser1654Ter) c.4853C>G (p.Ser1618Ter) c.4817C>G (p.Ser1606Ter) c.4832C>G (p.Ser1611Ter) c.4742C>G (p.Ser1581Ter) c.4670C>G (p.Ser1557Ter) c.4754C>G (p.Ser1585Ter) c.4583C>G (p.Ser1528Ter) c.11255C>G (p.Ser3752Ter) c.11141C>G (p.Ser3714Ter) c.11111C>G (p.Ser3704Ter) c.11174C>G (p.Ser3725Ter) c.10904C>G (p.Ser3635Ter) c.4664C>G (p.Ser1555Ter) c.4709C>G (p.Ser1570Ter) c.4868C>G (p.Ser1623Ter) c.4940C>G (p.Ser1647Ter) c.4400C>G (p.Ser1467Ter) c.4727C>G (p.Ser1576Ter) c.7538C>G (p.Ser2513Ter) c.1283C>G (p.Ser428Ter) c.4748C>G (p.Ser1583Ter) | |
4 | g.113367671C>T | CA357942048 | ANK2 | c.11279C>T (p.Ser3760Leu) c.4964C>T (p.Ser1655Leu) c.1565C>T (p.Ser522Leu) c.2063C>T (p.Ser688Leu) n.2520C>T n.1728C>T n.2472C>T n.1301C>T n.3263C>T n.1244C>T n.1637C>T n.7983C>T n.2609C>T n.593C>T n.3027C>T n.1242C>T c.11138C>T (p.Ser3713Leu) c.10976C>T (p.Ser3659Leu) c.2270C>T (p.Ser757Leu) c.593C>T (p.Ser198Leu) c.4697C>T (p.Ser1566Leu) c.4784C>T (p.Ser1595Leu) c.4721C>T (p.Ser1574Leu) c.4919C>T (p.Ser1640Leu) c.4820C>T (p.Ser1607Leu) c.11012C>T (p.Ser3671Leu) c.4622C>T (p.Ser1541Leu) c.*376C>T (n.*376C>T) c.10955C>T (p.Ser3652Leu) c.4499C>T (p.Ser1500Leu) c.10952C>T (p.Ser3651Leu) c.4598C>T (p.Ser1533Leu) c.11183C>T (p.Ser3728Leu) c.4733C>T (p.Ser1578Leu) c.4718C>T (p.Ser1573Leu) c.11219C>T (p.Ser3740Leu) c.4706C>T (p.Ser1569Leu) c.10940C>T (p.Ser3647Leu) c.4658C>T (p.Ser1553Leu) c.4856C>T (p.Ser1619Leu) c.2447C>T (p.Ser816Leu) c.11039C>T (p.Ser3680Leu) c.4928C>T (p.Ser1643Leu) c.11075C>T (p.Ser3692Leu) c.4685C>T (p.Ser1562Leu) c.10877C>T (p.Ser3626Leu) c.4757C>T (p.Ser1586Leu) c.4301C>T (p.Ser1434Leu) c.2432C>T (p.Ser811Leu) c.10853C>T (p.Ser3618Leu) c.2411C>T (p.Ser804Leu) c.11084C>T (p.Ser3695Leu) c.4649C>T (p.Ser1550Leu) c.4391C>T (p.Ser1464Leu) c.10913C>T (p.Ser3638Leu) c.4883C>T (p.Ser1628Leu) c.2168C>T (p.Ser723Leu) c.839C>T (p.Ser280Leu) c.1887C>T c.*2499C>T (n.*2499C>T) c.11171C>T (p.Ser3724Leu) c.4880C>T (p.Ser1627Leu) c.11225C>T (p.Ser3742Leu) c.11189C>T (p.Ser3730Leu) c.4937C>T (p.Ser1646Leu) c.4970C>T (p.Ser1657Leu) c.4901C>T (p.Ser1634Leu) c.11165C>T (p.Ser3722Leu) c.11210C>T (p.Ser3737Leu) c.4895C>T (p.Ser1632Leu) c.4862C>T (p.Ser1621Leu) c.4925C>T (p.Ser1642Leu) c.4781C>T (p.Ser1594Leu) c.4961C>T (p.Ser1654Leu) c.4853C>T (p.Ser1618Leu) c.4817C>T (p.Ser1606Leu) c.4832C>T (p.Ser1611Leu) c.4742C>T (p.Ser1581Leu) c.4670C>T (p.Ser1557Leu) c.4754C>T (p.Ser1585Leu) c.4583C>T (p.Ser1528Leu) c.11255C>T (p.Ser3752Leu) c.11141C>T (p.Ser3714Leu) c.11111C>T (p.Ser3704Leu) c.11174C>T (p.Ser3725Leu) c.10904C>T (p.Ser3635Leu) c.4664C>T (p.Ser1555Leu) c.4709C>T (p.Ser1570Leu) c.4868C>T (p.Ser1623Leu) c.4940C>T (p.Ser1647Leu) c.4400C>T (p.Ser1467Leu) c.4727C>T (p.Ser1576Leu) c.7538C>T (p.Ser2513Leu) c.1283C>T (p.Ser428Leu) c.4748C>T (p.Ser1583Leu) | |
4 | g.113367672A>C | CA440832817 | ANK2 | c.11280A>C (p.Ser3760=) c.4965A>C (p.Ser1655=) c.1566A>C (p.Ser522=) c.2064A>C (p.Ser688=) n.2521A>C n.1729A>C n.2473A>C n.1302A>C n.3264A>C n.1245A>C n.1638A>C n.7984A>C n.2610A>C n.594A>C n.3028A>C n.1243A>C c.11139A>C (p.Ser3713=) c.10977A>C (p.Ser3659=) c.2271A>C (p.Ser757=) c.594A>C (p.Ser198=) c.4698A>C (p.Ser1566=) c.4785A>C (p.Ser1595=) c.4722A>C (p.Ser1574=) c.4920A>C (p.Ser1640=) c.4821A>C (p.Ser1607=) c.11013A>C (p.Ser3671=) c.4623A>C (p.Ser1541=) c.*377A>C (n.*377A>C) c.10956A>C (p.Ser3652=) c.4500A>C (p.Ser1500=) c.10953A>C (p.Ser3651=) c.4599A>C (p.Ser1533=) c.11184A>C (p.Ser3728=) c.4734A>C (p.Ser1578=) c.4719A>C (p.Ser1573=) c.11220A>C (p.Ser3740=) c.4707A>C (p.Ser1569=) c.10941A>C (p.Ser3647=) c.4659A>C (p.Ser1553=) c.4857A>C (p.Ser1619=) c.2448A>C (p.Ser816=) c.11040A>C (p.Ser3680=) c.4929A>C (p.Ser1643=) c.11076A>C (p.Ser3692=) c.4686A>C (p.Ser1562=) c.10878A>C (p.Ser3626=) c.4758A>C (p.Ser1586=) c.4302A>C (p.Ser1434=) c.2433A>C (p.Ser811=) c.10854A>C (p.Ser3618=) c.2412A>C (p.Ser804=) c.11085A>C (p.Ser3695=) c.4650A>C (p.Ser1550=) c.4392A>C (p.Ser1464=) c.10914A>C (p.Ser3638=) c.4884A>C (p.Ser1628=) c.2169A>C (p.Ser723=) c.840A>C (p.Ser280=) c.1888A>C c.*2500A>C (n.*2500A>C) c.11172A>C (p.Ser3724=) c.4881A>C (p.Ser1627=) c.11226A>C (p.Ser3742=) c.11190A>C (p.Ser3730=) c.4938A>C (p.Ser1646=) c.4971A>C (p.Ser1657=) c.4902A>C (p.Ser1634=) c.11166A>C (p.Ser3722=) c.11211A>C (p.Ser3737=) c.4896A>C (p.Ser1632=) c.4863A>C (p.Ser1621=) c.4926A>C (p.Ser1642=) c.4782A>C (p.Ser1594=) c.4962A>C (p.Ser1654=) c.4854A>C (p.Ser1618=) c.4818A>C (p.Ser1606=) c.4833A>C (p.Ser1611=) c.4743A>C (p.Ser1581=) c.4671A>C (p.Ser1557=) c.4755A>C (p.Ser1585=) c.4584A>C (p.Ser1528=) c.11256A>C (p.Ser3752=) c.11142A>C (p.Ser3714=) c.11112A>C (p.Ser3704=) c.11175A>C (p.Ser3725=) c.10905A>C (p.Ser3635=) c.4665A>C (p.Ser1555=) c.4710A>C (p.Ser1570=) c.4869A>C (p.Ser1623=) c.4941A>C (p.Ser1647=) c.4401A>C (p.Ser1467=) c.4728A>C (p.Ser1576=) c.7539A>C (p.Ser2513=) c.1284A>C (p.Ser428=) c.4749A>C (p.Ser1583=) | |
4 | g.113367672A>G | CA440832818 | ANK2 | c.11280A>G (p.Ser3760=) c.4965A>G (p.Ser1655=) c.1566A>G (p.Ser522=) c.2064A>G (p.Ser688=) n.2521A>G n.1729A>G n.2473A>G n.1302A>G n.3264A>G n.1245A>G n.1638A>G n.7984A>G n.2610A>G n.594A>G n.3028A>G n.1243A>G c.11139A>G (p.Ser3713=) c.10977A>G (p.Ser3659=) c.2271A>G (p.Ser757=) c.594A>G (p.Ser198=) c.4698A>G (p.Ser1566=) c.4785A>G (p.Ser1595=) c.4722A>G (p.Ser1574=) c.4920A>G (p.Ser1640=) c.4821A>G (p.Ser1607=) c.11013A>G (p.Ser3671=) c.4623A>G (p.Ser1541=) c.*377A>G (n.*377A>G) c.10956A>G (p.Ser3652=) c.4500A>G (p.Ser1500=) c.10953A>G (p.Ser3651=) c.4599A>G (p.Ser1533=) c.11184A>G (p.Ser3728=) c.4734A>G (p.Ser1578=) c.4719A>G (p.Ser1573=) c.11220A>G (p.Ser3740=) c.4707A>G (p.Ser1569=) c.10941A>G (p.Ser3647=) c.4659A>G (p.Ser1553=) c.4857A>G (p.Ser1619=) c.2448A>G (p.Ser816=) c.11040A>G (p.Ser3680=) c.4929A>G (p.Ser1643=) c.11076A>G (p.Ser3692=) c.4686A>G (p.Ser1562=) c.10878A>G (p.Ser3626=) c.4758A>G (p.Ser1586=) c.4302A>G (p.Ser1434=) c.2433A>G (p.Ser811=) c.10854A>G (p.Ser3618=) c.2412A>G (p.Ser804=) c.11085A>G (p.Ser3695=) c.4650A>G (p.Ser1550=) c.4392A>G (p.Ser1464=) c.10914A>G (p.Ser3638=) c.4884A>G (p.Ser1628=) c.2169A>G (p.Ser723=) c.840A>G (p.Ser280=) c.1888A>G c.*2500A>G (n.*2500A>G) c.11172A>G (p.Ser3724=) c.4881A>G (p.Ser1627=) c.11226A>G (p.Ser3742=) c.11190A>G (p.Ser3730=) c.4938A>G (p.Ser1646=) c.4971A>G (p.Ser1657=) c.4902A>G (p.Ser1634=) c.11166A>G (p.Ser3722=) c.11211A>G (p.Ser3737=) c.4896A>G (p.Ser1632=) c.4863A>G (p.Ser1621=) c.4926A>G (p.Ser1642=) c.4782A>G (p.Ser1594=) c.4962A>G (p.Ser1654=) c.4854A>G (p.Ser1618=) c.4818A>G (p.Ser1606=) c.4833A>G (p.Ser1611=) c.4743A>G (p.Ser1581=) c.4671A>G (p.Ser1557=) c.4755A>G (p.Ser1585=) c.4584A>G (p.Ser1528=) c.11256A>G (p.Ser3752=) c.11142A>G (p.Ser3714=) c.11112A>G (p.Ser3704=) c.11175A>G (p.Ser3725=) c.10905A>G (p.Ser3635=) c.4665A>G (p.Ser1555=) c.4710A>G (p.Ser1570=) c.4869A>G (p.Ser1623=) c.4941A>G (p.Ser1647=) c.4401A>G (p.Ser1467=) c.4728A>G (p.Ser1576=) c.7539A>G (p.Ser2513=) c.1284A>G (p.Ser428=) c.4749A>G (p.Ser1583=) | |
4 | g.113367672A>T | CA440832820 | ANK2 | c.11280A>T (p.Ser3760=) c.4965A>T (p.Ser1655=) c.1566A>T (p.Ser522=) c.2064A>T (p.Ser688=) n.2521A>T n.1729A>T n.2473A>T n.1302A>T n.3264A>T n.1245A>T n.1638A>T n.7984A>T n.2610A>T n.594A>T n.3028A>T n.1243A>T c.11139A>T (p.Ser3713=) c.10977A>T (p.Ser3659=) c.2271A>T (p.Ser757=) c.594A>T (p.Ser198=) c.4698A>T (p.Ser1566=) c.4785A>T (p.Ser1595=) c.4722A>T (p.Ser1574=) c.4920A>T (p.Ser1640=) c.4821A>T (p.Ser1607=) c.11013A>T (p.Ser3671=) c.4623A>T (p.Ser1541=) c.*377A>T (n.*377A>T) c.10956A>T (p.Ser3652=) c.4500A>T (p.Ser1500=) c.10953A>T (p.Ser3651=) c.4599A>T (p.Ser1533=) c.11184A>T (p.Ser3728=) c.4734A>T (p.Ser1578=) c.4719A>T (p.Ser1573=) c.11220A>T (p.Ser3740=) c.4707A>T (p.Ser1569=) c.10941A>T (p.Ser3647=) c.4659A>T (p.Ser1553=) c.4857A>T (p.Ser1619=) c.2448A>T (p.Ser816=) c.11040A>T (p.Ser3680=) c.4929A>T (p.Ser1643=) c.11076A>T (p.Ser3692=) c.4686A>T (p.Ser1562=) c.10878A>T (p.Ser3626=) c.4758A>T (p.Ser1586=) c.4302A>T (p.Ser1434=) c.2433A>T (p.Ser811=) c.10854A>T (p.Ser3618=) c.2412A>T (p.Ser804=) c.11085A>T (p.Ser3695=) c.4650A>T (p.Ser1550=) c.4392A>T (p.Ser1464=) c.10914A>T (p.Ser3638=) c.4884A>T (p.Ser1628=) c.2169A>T (p.Ser723=) c.840A>T (p.Ser280=) c.1888A>T c.*2500A>T (n.*2500A>T) c.11172A>T (p.Ser3724=) c.4881A>T (p.Ser1627=) c.11226A>T (p.Ser3742=) c.11190A>T (p.Ser3730=) c.4938A>T (p.Ser1646=) c.4971A>T (p.Ser1657=) c.4902A>T (p.Ser1634=) c.11166A>T (p.Ser3722=) c.11211A>T (p.Ser3737=) c.4896A>T (p.Ser1632=) c.4863A>T (p.Ser1621=) c.4926A>T (p.Ser1642=) c.4782A>T (p.Ser1594=) c.4962A>T (p.Ser1654=) c.4854A>T (p.Ser1618=) c.4818A>T (p.Ser1606=) c.4833A>T (p.Ser1611=) c.4743A>T (p.Ser1581=) c.4671A>T (p.Ser1557=) c.4755A>T (p.Ser1585=) c.4584A>T (p.Ser1528=) c.11256A>T (p.Ser3752=) c.11142A>T (p.Ser3714=) c.11112A>T (p.Ser3704=) c.11175A>T (p.Ser3725=) c.10905A>T (p.Ser3635=) c.4665A>T (p.Ser1555=) c.4710A>T (p.Ser1570=) c.4869A>T (p.Ser1623=) c.4941A>T (p.Ser1647=) c.4401A>T (p.Ser1467=) c.4728A>T (p.Ser1576=) c.7539A>T (p.Ser2513=) c.1284A>T (p.Ser428=) c.4749A>T (p.Ser1583=) | |
4 | g.113367673G>A | CA357942051 | ANK2 | c.11281G>A (p.Glu3761Lys) c.4966G>A (p.Glu1656Lys) c.1567G>A (p.Glu523Lys) c.2065G>A (p.Glu689Lys) n.2522G>A n.1730G>A n.2474G>A n.1303G>A n.3265G>A n.1246G>A n.1639G>A n.7985G>A n.2611G>A n.595G>A n.3029G>A n.1244G>A c.11140G>A (p.Glu3714Lys) c.10978G>A (p.Glu3660Lys) c.2272G>A (p.Glu758Lys) c.595G>A (p.Glu199Lys) c.4699G>A (p.Glu1567Lys) c.4786G>A (p.Glu1596Lys) c.4723G>A (p.Glu1575Lys) c.4921G>A (p.Glu1641Lys) c.4822G>A (p.Glu1608Lys) c.11014G>A (p.Glu3672Lys) c.4624G>A (p.Glu1542Lys) c.*378G>A (n.*378G>A) c.10957G>A (p.Glu3653Lys) c.4501G>A (p.Glu1501Lys) c.10954G>A (p.Glu3652Lys) c.4600G>A (p.Glu1534Lys) c.11185G>A (p.Glu3729Lys) c.4735G>A (p.Glu1579Lys) c.4720G>A (p.Glu1574Lys) c.11221G>A (p.Glu3741Lys) c.4708G>A (p.Glu1570Lys) c.10942G>A (p.Glu3648Lys) c.4660G>A (p.Glu1554Lys) c.4858G>A (p.Glu1620Lys) c.2449G>A (p.Glu817Lys) c.11041G>A (p.Glu3681Lys) c.4930G>A (p.Glu1644Lys) c.11077G>A (p.Glu3693Lys) c.4687G>A (p.Glu1563Lys) c.10879G>A (p.Glu3627Lys) c.4759G>A (p.Glu1587Lys) c.4303G>A (p.Glu1435Lys) c.2434G>A (p.Glu812Lys) c.10855G>A (p.Glu3619Lys) c.2413G>A (p.Glu805Lys) c.11086G>A (p.Glu3696Lys) c.4651G>A (p.Glu1551Lys) c.4393G>A (p.Glu1465Lys) c.10915G>A (p.Glu3639Lys) c.4885G>A (p.Glu1629Lys) c.2170G>A (p.Glu724Lys) c.841G>A (p.Glu281Lys) c.1889G>A c.*2501G>A (n.*2501G>A) c.11173G>A (p.Glu3725Lys) c.4882G>A (p.Glu1628Lys) c.11227G>A (p.Glu3743Lys) c.11191G>A (p.Glu3731Lys) c.4939G>A (p.Glu1647Lys) c.4972G>A (p.Glu1658Lys) c.4903G>A (p.Glu1635Lys) c.11167G>A (p.Glu3723Lys) c.11212G>A (p.Glu3738Lys) c.4897G>A (p.Glu1633Lys) c.4864G>A (p.Glu1622Lys) c.4927G>A (p.Glu1643Lys) c.4783G>A (p.Glu1595Lys) c.4963G>A (p.Glu1655Lys) c.4855G>A (p.Glu1619Lys) c.4819G>A (p.Glu1607Lys) c.4834G>A (p.Glu1612Lys) c.4744G>A (p.Glu1582Lys) c.4672G>A (p.Glu1558Lys) c.4756G>A (p.Glu1586Lys) c.4585G>A (p.Glu1529Lys) c.11257G>A (p.Glu3753Lys) c.11143G>A (p.Glu3715Lys) c.11113G>A (p.Glu3705Lys) c.11176G>A (p.Glu3726Lys) c.10906G>A (p.Glu3636Lys) c.4666G>A (p.Glu1556Lys) c.4711G>A (p.Glu1571Lys) c.4870G>A (p.Glu1624Lys) c.4942G>A (p.Glu1648Lys) c.4402G>A (p.Glu1468Lys) c.4729G>A (p.Glu1577Lys) c.7540G>A (p.Glu2514Lys) c.1285G>A (p.Glu429Lys) c.4750G>A (p.Glu1584Lys) | |
4 | g.113367673G>C | CA357942049 | ANK2 | c.11281G>C (p.Glu3761Gln) c.4966G>C (p.Glu1656Gln) c.1567G>C (p.Glu523Gln) c.2065G>C (p.Glu689Gln) n.2522G>C n.1730G>C n.2474G>C n.1303G>C n.3265G>C n.1246G>C n.1639G>C n.7985G>C n.2611G>C n.595G>C n.3029G>C n.1244G>C c.11140G>C (p.Glu3714Gln) c.10978G>C (p.Glu3660Gln) c.2272G>C (p.Glu758Gln) c.595G>C (p.Glu199Gln) c.4699G>C (p.Glu1567Gln) c.4786G>C (p.Glu1596Gln) c.4723G>C (p.Glu1575Gln) c.4921G>C (p.Glu1641Gln) c.4822G>C (p.Glu1608Gln) c.11014G>C (p.Glu3672Gln) c.4624G>C (p.Glu1542Gln) c.*378G>C (n.*378G>C) c.10957G>C (p.Glu3653Gln) c.4501G>C (p.Glu1501Gln) c.10954G>C (p.Glu3652Gln) c.4600G>C (p.Glu1534Gln) c.11185G>C (p.Glu3729Gln) c.4735G>C (p.Glu1579Gln) c.4720G>C (p.Glu1574Gln) c.11221G>C (p.Glu3741Gln) c.4708G>C (p.Glu1570Gln) c.10942G>C (p.Glu3648Gln) c.4660G>C (p.Glu1554Gln) c.4858G>C (p.Glu1620Gln) c.2449G>C (p.Glu817Gln) c.11041G>C (p.Glu3681Gln) c.4930G>C (p.Glu1644Gln) c.11077G>C (p.Glu3693Gln) c.4687G>C (p.Glu1563Gln) c.10879G>C (p.Glu3627Gln) c.4759G>C (p.Glu1587Gln) c.4303G>C (p.Glu1435Gln) c.2434G>C (p.Glu812Gln) c.10855G>C (p.Glu3619Gln) c.2413G>C (p.Glu805Gln) c.11086G>C (p.Glu3696Gln) c.4651G>C (p.Glu1551Gln) c.4393G>C (p.Glu1465Gln) c.10915G>C (p.Glu3639Gln) c.4885G>C (p.Glu1629Gln) c.2170G>C (p.Glu724Gln) c.841G>C (p.Glu281Gln) c.1889G>C c.*2501G>C (n.*2501G>C) c.11173G>C (p.Glu3725Gln) c.4882G>C (p.Glu1628Gln) c.11227G>C (p.Glu3743Gln) c.11191G>C (p.Glu3731Gln) c.4939G>C (p.Glu1647Gln) c.4972G>C (p.Glu1658Gln) c.4903G>C (p.Glu1635Gln) c.11167G>C (p.Glu3723Gln) c.11212G>C (p.Glu3738Gln) c.4897G>C (p.Glu1633Gln) c.4864G>C (p.Glu1622Gln) c.4927G>C (p.Glu1643Gln) c.4783G>C (p.Glu1595Gln) c.4963G>C (p.Glu1655Gln) c.4855G>C (p.Glu1619Gln) c.4819G>C (p.Glu1607Gln) c.4834G>C (p.Glu1612Gln) c.4744G>C (p.Glu1582Gln) c.4672G>C (p.Glu1558Gln) c.4756G>C (p.Glu1586Gln) c.4585G>C (p.Glu1529Gln) c.11257G>C (p.Glu3753Gln) c.11143G>C (p.Glu3715Gln) c.11113G>C (p.Glu3705Gln) c.11176G>C (p.Glu3726Gln) c.10906G>C (p.Glu3636Gln) c.4666G>C (p.Glu1556Gln) c.4711G>C (p.Glu1571Gln) c.4870G>C (p.Glu1624Gln) c.4942G>C (p.Glu1648Gln) c.4402G>C (p.Glu1468Gln) c.4729G>C (p.Glu1577Gln) c.7540G>C (p.Glu2514Gln) c.1285G>C (p.Glu429Gln) c.4750G>C (p.Glu1584Gln) | |
4 | g.113367673G>T | CA357942050 | ANK2 | c.11281G>T (p.Glu3761Ter) c.4966G>T (p.Glu1656Ter) c.1567G>T (p.Glu523Ter) c.2065G>T (p.Glu689Ter) n.2522G>T n.1730G>T n.2474G>T n.1303G>T n.3265G>T n.1246G>T n.1639G>T n.7985G>T n.2611G>T n.595G>T n.3029G>T n.1244G>T c.11140G>T (p.Glu3714Ter) c.10978G>T (p.Glu3660Ter) c.2272G>T (p.Glu758Ter) c.595G>T (p.Glu199Ter) c.4699G>T (p.Glu1567Ter) c.4786G>T (p.Glu1596Ter) c.4723G>T (p.Glu1575Ter) c.4921G>T (p.Glu1641Ter) c.4822G>T (p.Glu1608Ter) c.11014G>T (p.Glu3672Ter) c.4624G>T (p.Glu1542Ter) c.*378G>T (n.*378G>T) c.10957G>T (p.Glu3653Ter) c.4501G>T (p.Glu1501Ter) c.10954G>T (p.Glu3652Ter) c.4600G>T (p.Glu1534Ter) c.11185G>T (p.Glu3729Ter) c.4735G>T (p.Glu1579Ter) c.4720G>T (p.Glu1574Ter) c.11221G>T (p.Glu3741Ter) c.4708G>T (p.Glu1570Ter) c.10942G>T (p.Glu3648Ter) c.4660G>T (p.Glu1554Ter) c.4858G>T (p.Glu1620Ter) c.2449G>T (p.Glu817Ter) c.11041G>T (p.Glu3681Ter) c.4930G>T (p.Glu1644Ter) c.11077G>T (p.Glu3693Ter) c.4687G>T (p.Glu1563Ter) c.10879G>T (p.Glu3627Ter) c.4759G>T (p.Glu1587Ter) c.4303G>T (p.Glu1435Ter) c.2434G>T (p.Glu812Ter) c.10855G>T (p.Glu3619Ter) c.2413G>T (p.Glu805Ter) c.11086G>T (p.Glu3696Ter) c.4651G>T (p.Glu1551Ter) c.4393G>T (p.Glu1465Ter) c.10915G>T (p.Glu3639Ter) c.4885G>T (p.Glu1629Ter) c.2170G>T (p.Glu724Ter) c.841G>T (p.Glu281Ter) c.1889G>T c.*2501G>T (n.*2501G>T) c.11173G>T (p.Glu3725Ter) c.4882G>T (p.Glu1628Ter) c.11227G>T (p.Glu3743Ter) c.11191G>T (p.Glu3731Ter) c.4939G>T (p.Glu1647Ter) c.4972G>T (p.Glu1658Ter) c.4903G>T (p.Glu1635Ter) c.11167G>T (p.Glu3723Ter) c.11212G>T (p.Glu3738Ter) c.4897G>T (p.Glu1633Ter) c.4864G>T (p.Glu1622Ter) c.4927G>T (p.Glu1643Ter) c.4783G>T (p.Glu1595Ter) c.4963G>T (p.Glu1655Ter) c.4855G>T (p.Glu1619Ter) c.4819G>T (p.Glu1607Ter) c.4834G>T (p.Glu1612Ter) c.4744G>T (p.Glu1582Ter) c.4672G>T (p.Glu1558Ter) c.4756G>T (p.Glu1586Ter) c.4585G>T (p.Glu1529Ter) c.11257G>T (p.Glu3753Ter) c.11143G>T (p.Glu3715Ter) c.11113G>T (p.Glu3705Ter) c.11176G>T (p.Glu3726Ter) c.10906G>T (p.Glu3636Ter) c.4666G>T (p.Glu1556Ter) c.4711G>T (p.Glu1571Ter) c.4870G>T (p.Glu1624Ter) c.4942G>T (p.Glu1648Ter) c.4402G>T (p.Glu1468Ter) c.4729G>T (p.Glu1577Ter) c.7540G>T (p.Glu2514Ter) c.1285G>T (p.Glu429Ter) c.4750G>T (p.Glu1584Ter) | |
4 | g.113367674A>C | CA357942052 | ANK2 | c.11282A>C (p.Glu3761Ala) c.4967A>C (p.Glu1656Ala) c.1568A>C (p.Glu523Ala) c.2066A>C (p.Glu689Ala) n.2523A>C n.1731A>C n.2475A>C n.1304A>C n.3266A>C n.1247A>C n.1640A>C n.7986A>C n.2612A>C n.596A>C n.3030A>C n.1245A>C c.11141A>C (p.Glu3714Ala) c.10979A>C (p.Glu3660Ala) c.2273A>C (p.Glu758Ala) c.596A>C (p.Glu199Ala) c.4700A>C (p.Glu1567Ala) c.4787A>C (p.Glu1596Ala) c.4724A>C (p.Glu1575Ala) c.4922A>C (p.Glu1641Ala) c.4823A>C (p.Glu1608Ala) c.11015A>C (p.Glu3672Ala) c.4625A>C (p.Glu1542Ala) c.*379A>C (n.*379A>C) c.10958A>C (p.Glu3653Ala) c.4502A>C (p.Glu1501Ala) c.10955A>C (p.Glu3652Ala) c.4601A>C (p.Glu1534Ala) c.11186A>C (p.Glu3729Ala) c.4736A>C (p.Glu1579Ala) c.4721A>C (p.Glu1574Ala) c.11222A>C (p.Glu3741Ala) c.4709A>C (p.Glu1570Ala) c.10943A>C (p.Glu3648Ala) c.4661A>C (p.Glu1554Ala) c.4859A>C (p.Glu1620Ala) c.2450A>C (p.Glu817Ala) c.11042A>C (p.Glu3681Ala) c.4931A>C (p.Glu1644Ala) c.11078A>C (p.Glu3693Ala) c.4688A>C (p.Glu1563Ala) c.10880A>C (p.Glu3627Ala) c.4760A>C (p.Glu1587Ala) c.4304A>C (p.Glu1435Ala) c.2435A>C (p.Glu812Ala) c.10856A>C (p.Glu3619Ala) c.2414A>C (p.Glu805Ala) c.11087A>C (p.Glu3696Ala) c.4652A>C (p.Glu1551Ala) c.4394A>C (p.Glu1465Ala) c.10916A>C (p.Glu3639Ala) c.4886A>C (p.Glu1629Ala) c.2171A>C (p.Glu724Ala) c.842A>C (p.Glu281Ala) c.1890A>C c.*2502A>C (n.*2502A>C) c.11174A>C (p.Glu3725Ala) c.4883A>C (p.Glu1628Ala) c.11228A>C (p.Glu3743Ala) c.11192A>C (p.Glu3731Ala) c.4940A>C (p.Glu1647Ala) c.4973A>C (p.Glu1658Ala) c.4904A>C (p.Glu1635Ala) c.11168A>C (p.Glu3723Ala) c.11213A>C (p.Glu3738Ala) c.4898A>C (p.Glu1633Ala) c.4865A>C (p.Glu1622Ala) c.4928A>C (p.Glu1643Ala) c.4784A>C (p.Glu1595Ala) c.4964A>C (p.Glu1655Ala) c.4856A>C (p.Glu1619Ala) c.4820A>C (p.Glu1607Ala) c.4835A>C (p.Glu1612Ala) c.4745A>C (p.Glu1582Ala) c.4673A>C (p.Glu1558Ala) c.4757A>C (p.Glu1586Ala) c.4586A>C (p.Glu1529Ala) c.11258A>C (p.Glu3753Ala) c.11144A>C (p.Glu3715Ala) c.11114A>C (p.Glu3705Ala) c.11177A>C (p.Glu3726Ala) c.10907A>C (p.Glu3636Ala) c.4667A>C (p.Glu1556Ala) c.4712A>C (p.Glu1571Ala) c.4871A>C (p.Glu1624Ala) c.4943A>C (p.Glu1648Ala) c.4403A>C (p.Glu1468Ala) c.4730A>C (p.Glu1577Ala) c.7541A>C (p.Glu2514Ala) c.1286A>C (p.Glu429Ala) c.4751A>C (p.Glu1584Ala) | |
4 | g.113367674A>G | CA357942053 | ANK2 | c.11282A>G (p.Glu3761Gly) c.4967A>G (p.Glu1656Gly) c.1568A>G (p.Glu523Gly) c.2066A>G (p.Glu689Gly) n.2523A>G n.1731A>G n.2475A>G n.1304A>G n.3266A>G n.1247A>G n.1640A>G n.7986A>G n.2612A>G n.596A>G n.3030A>G n.1245A>G c.11141A>G (p.Glu3714Gly) c.10979A>G (p.Glu3660Gly) c.2273A>G (p.Glu758Gly) c.596A>G (p.Glu199Gly) c.4700A>G (p.Glu1567Gly) c.4787A>G (p.Glu1596Gly) c.4724A>G (p.Glu1575Gly) c.4922A>G (p.Glu1641Gly) c.4823A>G (p.Glu1608Gly) c.11015A>G (p.Glu3672Gly) c.4625A>G (p.Glu1542Gly) c.*379A>G (n.*379A>G) c.10958A>G (p.Glu3653Gly) c.4502A>G (p.Glu1501Gly) c.10955A>G (p.Glu3652Gly) c.4601A>G (p.Glu1534Gly) c.11186A>G (p.Glu3729Gly) c.4736A>G (p.Glu1579Gly) c.4721A>G (p.Glu1574Gly) c.11222A>G (p.Glu3741Gly) c.4709A>G (p.Glu1570Gly) c.10943A>G (p.Glu3648Gly) c.4661A>G (p.Glu1554Gly) c.4859A>G (p.Glu1620Gly) c.2450A>G (p.Glu817Gly) c.11042A>G (p.Glu3681Gly) c.4931A>G (p.Glu1644Gly) c.11078A>G (p.Glu3693Gly) c.4688A>G (p.Glu1563Gly) c.10880A>G (p.Glu3627Gly) c.4760A>G (p.Glu1587Gly) c.4304A>G (p.Glu1435Gly) c.2435A>G (p.Glu812Gly) c.10856A>G (p.Glu3619Gly) c.2414A>G (p.Glu805Gly) c.11087A>G (p.Glu3696Gly) c.4652A>G (p.Glu1551Gly) c.4394A>G (p.Glu1465Gly) c.10916A>G (p.Glu3639Gly) c.4886A>G (p.Glu1629Gly) c.2171A>G (p.Glu724Gly) c.842A>G (p.Glu281Gly) c.1890A>G c.*2502A>G (n.*2502A>G) c.11174A>G (p.Glu3725Gly) c.4883A>G (p.Glu1628Gly) c.11228A>G (p.Glu3743Gly) c.11192A>G (p.Glu3731Gly) c.4940A>G (p.Glu1647Gly) c.4973A>G (p.Glu1658Gly) c.4904A>G (p.Glu1635Gly) c.11168A>G (p.Glu3723Gly) c.11213A>G (p.Glu3738Gly) c.4898A>G (p.Glu1633Gly) c.4865A>G (p.Glu1622Gly) c.4928A>G (p.Glu1643Gly) c.4784A>G (p.Glu1595Gly) c.4964A>G (p.Glu1655Gly) c.4856A>G (p.Glu1619Gly) c.4820A>G (p.Glu1607Gly) c.4835A>G (p.Glu1612Gly) c.4745A>G (p.Glu1582Gly) c.4673A>G (p.Glu1558Gly) c.4757A>G (p.Glu1586Gly) c.4586A>G (p.Glu1529Gly) c.11258A>G (p.Glu3753Gly) c.11144A>G (p.Glu3715Gly) c.11114A>G (p.Glu3705Gly) c.11177A>G (p.Glu3726Gly) c.10907A>G (p.Glu3636Gly) c.4667A>G (p.Glu1556Gly) c.4712A>G (p.Glu1571Gly) c.4871A>G (p.Glu1624Gly) c.4943A>G (p.Glu1648Gly) c.4403A>G (p.Glu1468Gly) c.4730A>G (p.Glu1577Gly) c.7541A>G (p.Glu2514Gly) c.1286A>G (p.Glu429Gly) c.4751A>G (p.Glu1584Gly) | gnomAD v4 |
4 | g.113367674A>T | CA357942054 | ANK2 | c.11282A>T (p.Glu3761Val) c.4967A>T (p.Glu1656Val) c.1568A>T (p.Glu523Val) c.2066A>T (p.Glu689Val) n.2523A>T n.1731A>T n.2475A>T n.1304A>T n.3266A>T n.1247A>T n.1640A>T n.7986A>T n.2612A>T n.596A>T n.3030A>T n.1245A>T c.11141A>T (p.Glu3714Val) c.10979A>T (p.Glu3660Val) c.2273A>T (p.Glu758Val) c.596A>T (p.Glu199Val) c.4700A>T (p.Glu1567Val) c.4787A>T (p.Glu1596Val) c.4724A>T (p.Glu1575Val) c.4922A>T (p.Glu1641Val) c.4823A>T (p.Glu1608Val) c.11015A>T (p.Glu3672Val) c.4625A>T (p.Glu1542Val) c.*379A>T (n.*379A>T) c.10958A>T (p.Glu3653Val) c.4502A>T (p.Glu1501Val) c.10955A>T (p.Glu3652Val) c.4601A>T (p.Glu1534Val) c.11186A>T (p.Glu3729Val) c.4736A>T (p.Glu1579Val) c.4721A>T (p.Glu1574Val) c.11222A>T (p.Glu3741Val) c.4709A>T (p.Glu1570Val) c.10943A>T (p.Glu3648Val) c.4661A>T (p.Glu1554Val) c.4859A>T (p.Glu1620Val) c.2450A>T (p.Glu817Val) c.11042A>T (p.Glu3681Val) c.4931A>T (p.Glu1644Val) c.11078A>T (p.Glu3693Val) c.4688A>T (p.Glu1563Val) c.10880A>T (p.Glu3627Val) c.4760A>T (p.Glu1587Val) c.4304A>T (p.Glu1435Val) c.2435A>T (p.Glu812Val) c.10856A>T (p.Glu3619Val) c.2414A>T (p.Glu805Val) c.11087A>T (p.Glu3696Val) c.4652A>T (p.Glu1551Val) c.4394A>T (p.Glu1465Val) c.10916A>T (p.Glu3639Val) c.4886A>T (p.Glu1629Val) c.2171A>T (p.Glu724Val) c.842A>T (p.Glu281Val) c.1890A>T c.*2502A>T (n.*2502A>T) c.11174A>T (p.Glu3725Val) c.4883A>T (p.Glu1628Val) c.11228A>T (p.Glu3743Val) c.11192A>T (p.Glu3731Val) c.4940A>T (p.Glu1647Val) c.4973A>T (p.Glu1658Val) c.4904A>T (p.Glu1635Val) c.11168A>T (p.Glu3723Val) c.11213A>T (p.Glu3738Val) c.4898A>T (p.Glu1633Val) c.4865A>T (p.Glu1622Val) c.4928A>T (p.Glu1643Val) c.4784A>T (p.Glu1595Val) c.4964A>T (p.Glu1655Val) c.4856A>T (p.Glu1619Val) c.4820A>T (p.Glu1607Val) c.4835A>T (p.Glu1612Val) c.4745A>T (p.Glu1582Val) c.4673A>T (p.Glu1558Val) c.4757A>T (p.Glu1586Val) c.4586A>T (p.Glu1529Val) c.11258A>T (p.Glu3753Val) c.11144A>T (p.Glu3715Val) c.11114A>T (p.Glu3705Val) c.11177A>T (p.Glu3726Val) c.10907A>T (p.Glu3636Val) c.4667A>T (p.Glu1556Val) c.4712A>T (p.Glu1571Val) c.4871A>T (p.Glu1624Val) c.4943A>T (p.Glu1648Val) c.4403A>T (p.Glu1468Val) c.4730A>T (p.Glu1577Val) c.7541A>T (p.Glu2514Val) c.1286A>T (p.Glu429Val) c.4751A>T (p.Glu1584Val) | |
4 | g.113367675G>A | CA440832830 | ANK2 | c.11283G>A (p.Glu3761=) c.4968G>A (p.Glu1656=) c.1569G>A (p.Glu523=) c.2067G>A (p.Glu689=) n.2524G>A n.1732G>A n.2476G>A n.1305G>A n.3267G>A n.1248G>A n.1641G>A n.7987G>A n.2613G>A n.597G>A n.3031G>A n.1246G>A c.11142G>A (p.Glu3714=) c.10980G>A (p.Glu3660=) c.2274G>A (p.Glu758=) c.597G>A (p.Glu199=) c.4701G>A (p.Glu1567=) c.4788G>A (p.Glu1596=) c.4725G>A (p.Glu1575=) c.4923G>A (p.Glu1641=) c.4824G>A (p.Glu1608=) c.11016G>A (p.Glu3672=) c.4626G>A (p.Glu1542=) c.*380G>A (n.*380G>A) c.10959G>A (p.Glu3653=) c.4503G>A (p.Glu1501=) c.10956G>A (p.Glu3652=) c.4602G>A (p.Glu1534=) c.11187G>A (p.Glu3729=) c.4737G>A (p.Glu1579=) c.4722G>A (p.Glu1574=) c.11223G>A (p.Glu3741=) c.4710G>A (p.Glu1570=) c.10944G>A (p.Glu3648=) c.4662G>A (p.Glu1554=) c.4860G>A (p.Glu1620=) c.2451G>A (p.Glu817=) c.11043G>A (p.Glu3681=) c.4932G>A (p.Glu1644=) c.11079G>A (p.Glu3693=) c.4689G>A (p.Glu1563=) c.10881G>A (p.Glu3627=) c.4761G>A (p.Glu1587=) c.4305G>A (p.Glu1435=) c.2436G>A (p.Glu812=) c.10857G>A (p.Glu3619=) c.2415G>A (p.Glu805=) c.11088G>A (p.Glu3696=) c.4653G>A (p.Glu1551=) c.4395G>A (p.Glu1465=) c.10917G>A (p.Glu3639=) c.4887G>A (p.Glu1629=) c.2172G>A (p.Glu724=) c.843G>A (p.Glu281=) c.1891G>A c.*2503G>A (n.*2503G>A) c.11175G>A (p.Glu3725=) c.4884G>A (p.Glu1628=) c.11229G>A (p.Glu3743=) c.11193G>A (p.Glu3731=) c.4941G>A (p.Glu1647=) c.4974G>A (p.Glu1658=) c.4905G>A (p.Glu1635=) c.11169G>A (p.Glu3723=) c.11214G>A (p.Glu3738=) c.4899G>A (p.Glu1633=) c.4866G>A (p.Glu1622=) c.4929G>A (p.Glu1643=) c.4785G>A (p.Glu1595=) c.4965G>A (p.Glu1655=) c.4857G>A (p.Glu1619=) c.4821G>A (p.Glu1607=) c.4836G>A (p.Glu1612=) c.4746G>A (p.Glu1582=) c.4674G>A (p.Glu1558=) c.4758G>A (p.Glu1586=) c.4587G>A (p.Glu1529=) c.11259G>A (p.Glu3753=) c.11145G>A (p.Glu3715=) c.11115G>A (p.Glu3705=) c.11178G>A (p.Glu3726=) c.10908G>A (p.Glu3636=) c.4668G>A (p.Glu1556=) c.4713G>A (p.Glu1571=) c.4872G>A (p.Glu1624=) c.4944G>A (p.Glu1648=) c.4404G>A (p.Glu1468=) c.4731G>A (p.Glu1577=) c.7542G>A (p.Glu2514=) c.1287G>A (p.Glu429=) c.4752G>A (p.Glu1584=) | |
4 | g.113367675G>C | CA357942055 | ANK2 | c.11283G>C (p.Glu3761Asp) c.4968G>C (p.Glu1656Asp) c.1569G>C (p.Glu523Asp) c.2067G>C (p.Glu689Asp) n.2524G>C n.1732G>C n.2476G>C n.1305G>C n.3267G>C n.1248G>C n.1641G>C n.7987G>C n.2613G>C n.597G>C n.3031G>C n.1246G>C c.11142G>C (p.Glu3714Asp) c.10980G>C (p.Glu3660Asp) c.2274G>C (p.Glu758Asp) c.597G>C (p.Glu199Asp) c.4701G>C (p.Glu1567Asp) c.4788G>C (p.Glu1596Asp) c.4725G>C (p.Glu1575Asp) c.4923G>C (p.Glu1641Asp) c.4824G>C (p.Glu1608Asp) c.11016G>C (p.Glu3672Asp) c.4626G>C (p.Glu1542Asp) c.*380G>C (n.*380G>C) c.10959G>C (p.Glu3653Asp) c.4503G>C (p.Glu1501Asp) c.10956G>C (p.Glu3652Asp) c.4602G>C (p.Glu1534Asp) c.11187G>C (p.Glu3729Asp) c.4737G>C (p.Glu1579Asp) c.4722G>C (p.Glu1574Asp) c.11223G>C (p.Glu3741Asp) c.4710G>C (p.Glu1570Asp) c.10944G>C (p.Glu3648Asp) c.4662G>C (p.Glu1554Asp) c.4860G>C (p.Glu1620Asp) c.2451G>C (p.Glu817Asp) c.11043G>C (p.Glu3681Asp) c.4932G>C (p.Glu1644Asp) c.11079G>C (p.Glu3693Asp) c.4689G>C (p.Glu1563Asp) c.10881G>C (p.Glu3627Asp) c.4761G>C (p.Glu1587Asp) c.4305G>C (p.Glu1435Asp) c.2436G>C (p.Glu812Asp) c.10857G>C (p.Glu3619Asp) c.2415G>C (p.Glu805Asp) c.11088G>C (p.Glu3696Asp) c.4653G>C (p.Glu1551Asp) c.4395G>C (p.Glu1465Asp) c.10917G>C (p.Glu3639Asp) c.4887G>C (p.Glu1629Asp) c.2172G>C (p.Glu724Asp) c.843G>C (p.Glu281Asp) c.1891G>C c.*2503G>C (n.*2503G>C) c.11175G>C (p.Glu3725Asp) c.4884G>C (p.Glu1628Asp) c.11229G>C (p.Glu3743Asp) c.11193G>C (p.Glu3731Asp) c.4941G>C (p.Glu1647Asp) c.4974G>C (p.Glu1658Asp) c.4905G>C (p.Glu1635Asp) c.11169G>C (p.Glu3723Asp) c.11214G>C (p.Glu3738Asp) c.4899G>C (p.Glu1633Asp) c.4866G>C (p.Glu1622Asp) c.4929G>C (p.Glu1643Asp) c.4785G>C (p.Glu1595Asp) c.4965G>C (p.Glu1655Asp) c.4857G>C (p.Glu1619Asp) c.4821G>C (p.Glu1607Asp) c.4836G>C (p.Glu1612Asp) c.4746G>C (p.Glu1582Asp) c.4674G>C (p.Glu1558Asp) c.4758G>C (p.Glu1586Asp) c.4587G>C (p.Glu1529Asp) c.11259G>C (p.Glu3753Asp) c.11145G>C (p.Glu3715Asp) c.11115G>C (p.Glu3705Asp) c.11178G>C (p.Glu3726Asp) c.10908G>C (p.Glu3636Asp) c.4668G>C (p.Glu1556Asp) c.4713G>C (p.Glu1571Asp) c.4872G>C (p.Glu1624Asp) c.4944G>C (p.Glu1648Asp) c.4404G>C (p.Glu1468Asp) c.4731G>C (p.Glu1577Asp) c.7542G>C (p.Glu2514Asp) c.1287G>C (p.Glu429Asp) c.4752G>C (p.Glu1584Asp) | |
4 | g.113367675G>T | CA357942056 | ANK2 | c.11283G>T (p.Glu3761Asp) c.4968G>T (p.Glu1656Asp) c.1569G>T (p.Glu523Asp) c.2067G>T (p.Glu689Asp) n.2524G>T n.1732G>T n.2476G>T n.1305G>T n.3267G>T n.1248G>T n.1641G>T n.7987G>T n.2613G>T n.597G>T n.3031G>T n.1246G>T c.11142G>T (p.Glu3714Asp) c.10980G>T (p.Glu3660Asp) c.2274G>T (p.Glu758Asp) c.597G>T (p.Glu199Asp) c.4701G>T (p.Glu1567Asp) c.4788G>T (p.Glu1596Asp) c.4725G>T (p.Glu1575Asp) c.4923G>T (p.Glu1641Asp) c.4824G>T (p.Glu1608Asp) c.11016G>T (p.Glu3672Asp) c.4626G>T (p.Glu1542Asp) c.*380G>T (n.*380G>T) c.10959G>T (p.Glu3653Asp) c.4503G>T (p.Glu1501Asp) c.10956G>T (p.Glu3652Asp) c.4602G>T (p.Glu1534Asp) c.11187G>T (p.Glu3729Asp) c.4737G>T (p.Glu1579Asp) c.4722G>T (p.Glu1574Asp) c.11223G>T (p.Glu3741Asp) c.4710G>T (p.Glu1570Asp) c.10944G>T (p.Glu3648Asp) c.4662G>T (p.Glu1554Asp) c.4860G>T (p.Glu1620Asp) c.2451G>T (p.Glu817Asp) c.11043G>T (p.Glu3681Asp) c.4932G>T (p.Glu1644Asp) c.11079G>T (p.Glu3693Asp) c.4689G>T (p.Glu1563Asp) c.10881G>T (p.Glu3627Asp) c.4761G>T (p.Glu1587Asp) c.4305G>T (p.Glu1435Asp) c.2436G>T (p.Glu812Asp) c.10857G>T (p.Glu3619Asp) c.2415G>T (p.Glu805Asp) c.11088G>T (p.Glu3696Asp) c.4653G>T (p.Glu1551Asp) c.4395G>T (p.Glu1465Asp) c.10917G>T (p.Glu3639Asp) c.4887G>T (p.Glu1629Asp) c.2172G>T (p.Glu724Asp) c.843G>T (p.Glu281Asp) c.1891G>T c.*2503G>T (n.*2503G>T) c.11175G>T (p.Glu3725Asp) c.4884G>T (p.Glu1628Asp) c.11229G>T (p.Glu3743Asp) c.11193G>T (p.Glu3731Asp) c.4941G>T (p.Glu1647Asp) c.4974G>T (p.Glu1658Asp) c.4905G>T (p.Glu1635Asp) c.11169G>T (p.Glu3723Asp) c.11214G>T (p.Glu3738Asp) c.4899G>T (p.Glu1633Asp) c.4866G>T (p.Glu1622Asp) c.4929G>T (p.Glu1643Asp) c.4785G>T (p.Glu1595Asp) c.4965G>T (p.Glu1655Asp) c.4857G>T (p.Glu1619Asp) c.4821G>T (p.Glu1607Asp) c.4836G>T (p.Glu1612Asp) c.4746G>T (p.Glu1582Asp) c.4674G>T (p.Glu1558Asp) c.4758G>T (p.Glu1586Asp) c.4587G>T (p.Glu1529Asp) c.11259G>T (p.Glu3753Asp) c.11145G>T (p.Glu3715Asp) c.11115G>T (p.Glu3705Asp) c.11178G>T (p.Glu3726Asp) c.10908G>T (p.Glu3636Asp) c.4668G>T (p.Glu1556Asp) c.4713G>T (p.Glu1571Asp) c.4872G>T (p.Glu1624Asp) c.4944G>T (p.Glu1648Asp) c.4404G>T (p.Glu1468Asp) c.4731G>T (p.Glu1577Asp) c.7542G>T (p.Glu2514Asp) c.1287G>T (p.Glu429Asp) c.4752G>T (p.Glu1584Asp) | |
4 | g.113367676G>A | CA357942057 | ANK2 | c.11284G>A (p.Glu3762Lys) c.4969G>A (p.Glu1657Lys) c.1570G>A (p.Glu524Lys) c.2068G>A (p.Glu690Lys) n.2525G>A n.1733G>A n.2477G>A n.1306G>A n.3268G>A n.1249G>A n.1642G>A n.7988G>A n.2614G>A n.598G>A n.3032G>A n.1247G>A c.11143G>A (p.Glu3715Lys) c.10981G>A (p.Glu3661Lys) c.2275G>A (p.Glu759Lys) c.598G>A (p.Glu200Lys) c.4702G>A (p.Glu1568Lys) c.4789G>A (p.Glu1597Lys) c.4726G>A (p.Glu1576Lys) c.4924G>A (p.Glu1642Lys) c.4825G>A (p.Glu1609Lys) c.11017G>A (p.Glu3673Lys) c.4627G>A (p.Glu1543Lys) c.*381G>A (n.*381G>A) c.10960G>A (p.Glu3654Lys) c.4504G>A (p.Glu1502Lys) c.10957G>A (p.Glu3653Lys) c.4603G>A (p.Glu1535Lys) c.11188G>A (p.Glu3730Lys) c.4738G>A (p.Glu1580Lys) c.4723G>A (p.Glu1575Lys) c.11224G>A (p.Glu3742Lys) c.4711G>A (p.Glu1571Lys) c.10945G>A (p.Glu3649Lys) c.4663G>A (p.Glu1555Lys) c.4861G>A (p.Glu1621Lys) c.2452G>A (p.Glu818Lys) c.11044G>A (p.Glu3682Lys) c.4933G>A (p.Glu1645Lys) c.11080G>A (p.Glu3694Lys) c.4690G>A (p.Glu1564Lys) c.10882G>A (p.Glu3628Lys) c.4762G>A (p.Glu1588Lys) c.4306G>A (p.Glu1436Lys) c.2437G>A (p.Glu813Lys) c.10858G>A (p.Glu3620Lys) c.2416G>A (p.Glu806Lys) c.11089G>A (p.Glu3697Lys) c.4654G>A (p.Glu1552Lys) c.4396G>A (p.Glu1466Lys) c.10918G>A (p.Glu3640Lys) c.4888G>A (p.Glu1630Lys) c.2173G>A (p.Glu725Lys) c.844G>A (p.Glu282Lys) c.1892G>A c.*2504G>A (n.*2504G>A) c.11176G>A (p.Glu3726Lys) c.4885G>A (p.Glu1629Lys) c.11230G>A (p.Glu3744Lys) c.11194G>A (p.Glu3732Lys) c.4942G>A (p.Glu1648Lys) c.4975G>A (p.Glu1659Lys) c.4906G>A (p.Glu1636Lys) c.11170G>A (p.Glu3724Lys) c.11215G>A (p.Glu3739Lys) c.4900G>A (p.Glu1634Lys) c.4867G>A (p.Glu1623Lys) c.4930G>A (p.Glu1644Lys) c.4786G>A (p.Glu1596Lys) c.4966G>A (p.Glu1656Lys) c.4858G>A (p.Glu1620Lys) c.4822G>A (p.Glu1608Lys) c.4837G>A (p.Glu1613Lys) c.4747G>A (p.Glu1583Lys) c.4675G>A (p.Glu1559Lys) c.4759G>A (p.Glu1587Lys) c.4588G>A (p.Glu1530Lys) c.11260G>A (p.Glu3754Lys) c.11146G>A (p.Glu3716Lys) c.11116G>A (p.Glu3706Lys) c.11179G>A (p.Glu3727Lys) c.10909G>A (p.Glu3637Lys) c.4669G>A (p.Glu1557Lys) c.4714G>A (p.Glu1572Lys) c.4873G>A (p.Glu1625Lys) c.4945G>A (p.Glu1649Lys) c.4405G>A (p.Glu1469Lys) c.4732G>A (p.Glu1578Lys) c.7543G>A (p.Glu2515Lys) c.1288G>A (p.Glu430Lys) c.4753G>A (p.Glu1585Lys) | |
4 | g.113367676G>C | CA357942059 | ANK2 | c.11284G>C (p.Glu3762Gln) c.4969G>C (p.Glu1657Gln) c.1570G>C (p.Glu524Gln) c.2068G>C (p.Glu690Gln) n.2525G>C n.1733G>C n.2477G>C n.1306G>C n.3268G>C n.1249G>C n.1642G>C n.7988G>C n.2614G>C n.598G>C n.3032G>C n.1247G>C c.11143G>C (p.Glu3715Gln) c.10981G>C (p.Glu3661Gln) c.2275G>C (p.Glu759Gln) c.598G>C (p.Glu200Gln) c.4702G>C (p.Glu1568Gln) c.4789G>C (p.Glu1597Gln) c.4726G>C (p.Glu1576Gln) c.4924G>C (p.Glu1642Gln) c.4825G>C (p.Glu1609Gln) c.11017G>C (p.Glu3673Gln) c.4627G>C (p.Glu1543Gln) c.*381G>C (n.*381G>C) c.10960G>C (p.Glu3654Gln) c.4504G>C (p.Glu1502Gln) c.10957G>C (p.Glu3653Gln) c.4603G>C (p.Glu1535Gln) c.11188G>C (p.Glu3730Gln) c.4738G>C (p.Glu1580Gln) c.4723G>C (p.Glu1575Gln) c.11224G>C (p.Glu3742Gln) c.4711G>C (p.Glu1571Gln) c.10945G>C (p.Glu3649Gln) c.4663G>C (p.Glu1555Gln) c.4861G>C (p.Glu1621Gln) c.2452G>C (p.Glu818Gln) c.11044G>C (p.Glu3682Gln) c.4933G>C (p.Glu1645Gln) c.11080G>C (p.Glu3694Gln) c.4690G>C (p.Glu1564Gln) c.10882G>C (p.Glu3628Gln) c.4762G>C (p.Glu1588Gln) c.4306G>C (p.Glu1436Gln) c.2437G>C (p.Glu813Gln) c.10858G>C (p.Glu3620Gln) c.2416G>C (p.Glu806Gln) c.11089G>C (p.Glu3697Gln) c.4654G>C (p.Glu1552Gln) c.4396G>C (p.Glu1466Gln) c.10918G>C (p.Glu3640Gln) c.4888G>C (p.Glu1630Gln) c.2173G>C (p.Glu725Gln) c.844G>C (p.Glu282Gln) c.1892G>C c.*2504G>C (n.*2504G>C) c.11176G>C (p.Glu3726Gln) c.4885G>C (p.Glu1629Gln) c.11230G>C (p.Glu3744Gln) c.11194G>C (p.Glu3732Gln) c.4942G>C (p.Glu1648Gln) c.4975G>C (p.Glu1659Gln) c.4906G>C (p.Glu1636Gln) c.11170G>C (p.Glu3724Gln) c.11215G>C (p.Glu3739Gln) c.4900G>C (p.Glu1634Gln) c.4867G>C (p.Glu1623Gln) c.4930G>C (p.Glu1644Gln) c.4786G>C (p.Glu1596Gln) c.4966G>C (p.Glu1656Gln) c.4858G>C (p.Glu1620Gln) c.4822G>C (p.Glu1608Gln) c.4837G>C (p.Glu1613Gln) c.4747G>C (p.Glu1583Gln) c.4675G>C (p.Glu1559Gln) c.4759G>C (p.Glu1587Gln) c.4588G>C (p.Glu1530Gln) c.11260G>C (p.Glu3754Gln) c.11146G>C (p.Glu3716Gln) c.11116G>C (p.Glu3706Gln) c.11179G>C (p.Glu3727Gln) c.10909G>C (p.Glu3637Gln) c.4669G>C (p.Glu1557Gln) c.4714G>C (p.Glu1572Gln) c.4873G>C (p.Glu1625Gln) c.4945G>C (p.Glu1649Gln) c.4405G>C (p.Glu1469Gln) c.4732G>C (p.Glu1578Gln) c.7543G>C (p.Glu2515Gln) c.1288G>C (p.Glu430Gln) c.4753G>C (p.Glu1585Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.113367676G>T | CA357942058 | ANK2 | c.11284G>T (p.Glu3762Ter) c.4969G>T (p.Glu1657Ter) c.1570G>T (p.Glu524Ter) c.2068G>T (p.Glu690Ter) n.2525G>T n.1733G>T n.2477G>T n.1306G>T n.3268G>T n.1249G>T n.1642G>T n.7988G>T n.2614G>T n.598G>T n.3032G>T n.1247G>T c.11143G>T (p.Glu3715Ter) c.10981G>T (p.Glu3661Ter) c.2275G>T (p.Glu759Ter) c.598G>T (p.Glu200Ter) c.4702G>T (p.Glu1568Ter) c.4789G>T (p.Glu1597Ter) c.4726G>T (p.Glu1576Ter) c.4924G>T (p.Glu1642Ter) c.4825G>T (p.Glu1609Ter) c.11017G>T (p.Glu3673Ter) c.4627G>T (p.Glu1543Ter) c.*381G>T (n.*381G>T) c.10960G>T (p.Glu3654Ter) c.4504G>T (p.Glu1502Ter) c.10957G>T (p.Glu3653Ter) c.4603G>T (p.Glu1535Ter) c.11188G>T (p.Glu3730Ter) c.4738G>T (p.Glu1580Ter) c.4723G>T (p.Glu1575Ter) c.11224G>T (p.Glu3742Ter) c.4711G>T (p.Glu1571Ter) c.10945G>T (p.Glu3649Ter) c.4663G>T (p.Glu1555Ter) c.4861G>T (p.Glu1621Ter) c.2452G>T (p.Glu818Ter) c.11044G>T (p.Glu3682Ter) c.4933G>T (p.Glu1645Ter) c.11080G>T (p.Glu3694Ter) c.4690G>T (p.Glu1564Ter) c.10882G>T (p.Glu3628Ter) c.4762G>T (p.Glu1588Ter) c.4306G>T (p.Glu1436Ter) c.2437G>T (p.Glu813Ter) c.10858G>T (p.Glu3620Ter) c.2416G>T (p.Glu806Ter) c.11089G>T (p.Glu3697Ter) c.4654G>T (p.Glu1552Ter) c.4396G>T (p.Glu1466Ter) c.10918G>T (p.Glu3640Ter) c.4888G>T (p.Glu1630Ter) c.2173G>T (p.Glu725Ter) c.844G>T (p.Glu282Ter) c.1892G>T c.*2504G>T (n.*2504G>T) c.11176G>T (p.Glu3726Ter) c.4885G>T (p.Glu1629Ter) c.11230G>T (p.Glu3744Ter) c.11194G>T (p.Glu3732Ter) c.4942G>T (p.Glu1648Ter) c.4975G>T (p.Glu1659Ter) c.4906G>T (p.Glu1636Ter) c.11170G>T (p.Glu3724Ter) c.11215G>T (p.Glu3739Ter) c.4900G>T (p.Glu1634Ter) c.4867G>T (p.Glu1623Ter) c.4930G>T (p.Glu1644Ter) c.4786G>T (p.Glu1596Ter) c.4966G>T (p.Glu1656Ter) c.4858G>T (p.Glu1620Ter) c.4822G>T (p.Glu1608Ter) c.4837G>T (p.Glu1613Ter) c.4747G>T (p.Glu1583Ter) c.4675G>T (p.Glu1559Ter) c.4759G>T (p.Glu1587Ter) c.4588G>T (p.Glu1530Ter) c.11260G>T (p.Glu3754Ter) c.11146G>T (p.Glu3716Ter) c.11116G>T (p.Glu3706Ter) c.11179G>T (p.Glu3727Ter) c.10909G>T (p.Glu3637Ter) c.4669G>T (p.Glu1557Ter) c.4714G>T (p.Glu1572Ter) c.4873G>T (p.Glu1625Ter) c.4945G>T (p.Glu1649Ter) c.4405G>T (p.Glu1469Ter) c.4732G>T (p.Glu1578Ter) c.7543G>T (p.Glu2515Ter) c.1288G>T (p.Glu430Ter) c.4753G>T (p.Glu1585Ter) | |
4 | g.113367677A>C | CA357942060 | ANK2 | c.11285A>C (p.Glu3762Ala) c.4970A>C (p.Glu1657Ala) c.1571A>C (p.Glu524Ala) c.2069A>C (p.Glu690Ala) n.2526A>C n.1734A>C n.2478A>C n.1307A>C n.3269A>C n.1250A>C n.1643A>C n.7989A>C n.2615A>C n.599A>C n.3033A>C n.1248A>C c.11144A>C (p.Glu3715Ala) c.10982A>C (p.Glu3661Ala) c.2276A>C (p.Glu759Ala) c.599A>C (p.Glu200Ala) c.4703A>C (p.Glu1568Ala) c.4790A>C (p.Glu1597Ala) c.4727A>C (p.Glu1576Ala) c.4925A>C (p.Glu1642Ala) c.4826A>C (p.Glu1609Ala) c.11018A>C (p.Glu3673Ala) c.4628A>C (p.Glu1543Ala) c.*382A>C (n.*382A>C) c.10961A>C (p.Glu3654Ala) c.4505A>C (p.Glu1502Ala) c.10958A>C (p.Glu3653Ala) c.4604A>C (p.Glu1535Ala) c.11189A>C (p.Glu3730Ala) c.4739A>C (p.Glu1580Ala) c.4724A>C (p.Glu1575Ala) c.11225A>C (p.Glu3742Ala) c.4712A>C (p.Glu1571Ala) c.10946A>C (p.Glu3649Ala) c.4664A>C (p.Glu1555Ala) c.4862A>C (p.Glu1621Ala) c.2453A>C (p.Glu818Ala) c.11045A>C (p.Glu3682Ala) c.4934A>C (p.Glu1645Ala) c.11081A>C (p.Glu3694Ala) c.4691A>C (p.Glu1564Ala) c.10883A>C (p.Glu3628Ala) c.4763A>C (p.Glu1588Ala) c.4307A>C (p.Glu1436Ala) c.2438A>C (p.Glu813Ala) c.10859A>C (p.Glu3620Ala) c.2417A>C (p.Glu806Ala) c.11090A>C (p.Glu3697Ala) c.4655A>C (p.Glu1552Ala) c.4397A>C (p.Glu1466Ala) c.10919A>C (p.Glu3640Ala) c.4889A>C (p.Glu1630Ala) c.2174A>C (p.Glu725Ala) c.845A>C (p.Glu282Ala) c.1893A>C c.*2505A>C (n.*2505A>C) c.11177A>C (p.Glu3726Ala) c.4886A>C (p.Glu1629Ala) c.11231A>C (p.Glu3744Ala) c.11195A>C (p.Glu3732Ala) c.4943A>C (p.Glu1648Ala) c.4976A>C (p.Glu1659Ala) c.4907A>C (p.Glu1636Ala) c.11171A>C (p.Glu3724Ala) c.11216A>C (p.Glu3739Ala) c.4901A>C (p.Glu1634Ala) c.4868A>C (p.Glu1623Ala) c.4931A>C (p.Glu1644Ala) c.4787A>C (p.Glu1596Ala) c.4967A>C (p.Glu1656Ala) c.4859A>C (p.Glu1620Ala) c.4823A>C (p.Glu1608Ala) c.4838A>C (p.Glu1613Ala) c.4748A>C (p.Glu1583Ala) c.4676A>C (p.Glu1559Ala) c.4760A>C (p.Glu1587Ala) c.4589A>C (p.Glu1530Ala) c.11261A>C (p.Glu3754Ala) c.11147A>C (p.Glu3716Ala) c.11117A>C (p.Glu3706Ala) c.11180A>C (p.Glu3727Ala) c.10910A>C (p.Glu3637Ala) c.4670A>C (p.Glu1557Ala) c.4715A>C (p.Glu1572Ala) c.4874A>C (p.Glu1625Ala) c.4946A>C (p.Glu1649Ala) c.4406A>C (p.Glu1469Ala) c.4733A>C (p.Glu1578Ala) c.7544A>C (p.Glu2515Ala) c.1289A>C (p.Glu430Ala) c.4754A>C (p.Glu1585Ala) | |
4 | g.113367677A>G | CA357942061 | ANK2 | c.11285A>G (p.Glu3762Gly) c.4970A>G (p.Glu1657Gly) c.1571A>G (p.Glu524Gly) c.2069A>G (p.Glu690Gly) n.2526A>G n.1734A>G n.2478A>G n.1307A>G n.3269A>G n.1250A>G n.1643A>G n.7989A>G n.2615A>G n.599A>G n.3033A>G n.1248A>G c.11144A>G (p.Glu3715Gly) c.10982A>G (p.Glu3661Gly) c.2276A>G (p.Glu759Gly) c.599A>G (p.Glu200Gly) c.4703A>G (p.Glu1568Gly) c.4790A>G (p.Glu1597Gly) c.4727A>G (p.Glu1576Gly) c.4925A>G (p.Glu1642Gly) c.4826A>G (p.Glu1609Gly) c.11018A>G (p.Glu3673Gly) c.4628A>G (p.Glu1543Gly) c.*382A>G (n.*382A>G) c.10961A>G (p.Glu3654Gly) c.4505A>G (p.Glu1502Gly) c.10958A>G (p.Glu3653Gly) c.4604A>G (p.Glu1535Gly) c.11189A>G (p.Glu3730Gly) c.4739A>G (p.Glu1580Gly) c.4724A>G (p.Glu1575Gly) c.11225A>G (p.Glu3742Gly) c.4712A>G (p.Glu1571Gly) c.10946A>G (p.Glu3649Gly) c.4664A>G (p.Glu1555Gly) c.4862A>G (p.Glu1621Gly) c.2453A>G (p.Glu818Gly) c.11045A>G (p.Glu3682Gly) c.4934A>G (p.Glu1645Gly) c.11081A>G (p.Glu3694Gly) c.4691A>G (p.Glu1564Gly) c.10883A>G (p.Glu3628Gly) c.4763A>G (p.Glu1588Gly) c.4307A>G (p.Glu1436Gly) c.2438A>G (p.Glu813Gly) c.10859A>G (p.Glu3620Gly) c.2417A>G (p.Glu806Gly) c.11090A>G (p.Glu3697Gly) c.4655A>G (p.Glu1552Gly) c.4397A>G (p.Glu1466Gly) c.10919A>G (p.Glu3640Gly) c.4889A>G (p.Glu1630Gly) c.2174A>G (p.Glu725Gly) c.845A>G (p.Glu282Gly) c.1893A>G c.*2505A>G (n.*2505A>G) c.11177A>G (p.Glu3726Gly) c.4886A>G (p.Glu1629Gly) c.11231A>G (p.Glu3744Gly) c.11195A>G (p.Glu3732Gly) c.4943A>G (p.Glu1648Gly) c.4976A>G (p.Glu1659Gly) c.4907A>G (p.Glu1636Gly) c.11171A>G (p.Glu3724Gly) c.11216A>G (p.Glu3739Gly) c.4901A>G (p.Glu1634Gly) c.4868A>G (p.Glu1623Gly) c.4931A>G (p.Glu1644Gly) c.4787A>G (p.Glu1596Gly) c.4967A>G (p.Glu1656Gly) c.4859A>G (p.Glu1620Gly) c.4823A>G (p.Glu1608Gly) c.4838A>G (p.Glu1613Gly) c.4748A>G (p.Glu1583Gly) c.4676A>G (p.Glu1559Gly) c.4760A>G (p.Glu1587Gly) c.4589A>G (p.Glu1530Gly) c.11261A>G (p.Glu3754Gly) c.11147A>G (p.Glu3716Gly) c.11117A>G (p.Glu3706Gly) c.11180A>G (p.Glu3727Gly) c.10910A>G (p.Glu3637Gly) c.4670A>G (p.Glu1557Gly) c.4715A>G (p.Glu1572Gly) c.4874A>G (p.Glu1625Gly) c.4946A>G (p.Glu1649Gly) c.4406A>G (p.Glu1469Gly) c.4733A>G (p.Glu1578Gly) c.7544A>G (p.Glu2515Gly) c.1289A>G (p.Glu430Gly) c.4754A>G (p.Glu1585Gly) | dbSNP |
4 | g.113367677A>T | CA357942062 | ANK2 | c.11285A>T (p.Glu3762Val) c.4970A>T (p.Glu1657Val) c.1571A>T (p.Glu524Val) c.2069A>T (p.Glu690Val) n.2526A>T n.1734A>T n.2478A>T n.1307A>T n.3269A>T n.1250A>T n.1643A>T n.7989A>T n.2615A>T n.599A>T n.3033A>T n.1248A>T c.11144A>T (p.Glu3715Val) c.10982A>T (p.Glu3661Val) c.2276A>T (p.Glu759Val) c.599A>T (p.Glu200Val) c.4703A>T (p.Glu1568Val) c.4790A>T (p.Glu1597Val) c.4727A>T (p.Glu1576Val) c.4925A>T (p.Glu1642Val) c.4826A>T (p.Glu1609Val) c.11018A>T (p.Glu3673Val) c.4628A>T (p.Glu1543Val) c.*382A>T (n.*382A>T) c.10961A>T (p.Glu3654Val) c.4505A>T (p.Glu1502Val) c.10958A>T (p.Glu3653Val) c.4604A>T (p.Glu1535Val) c.11189A>T (p.Glu3730Val) c.4739A>T (p.Glu1580Val) c.4724A>T (p.Glu1575Val) c.11225A>T (p.Glu3742Val) c.4712A>T (p.Glu1571Val) c.10946A>T (p.Glu3649Val) c.4664A>T (p.Glu1555Val) c.4862A>T (p.Glu1621Val) c.2453A>T (p.Glu818Val) c.11045A>T (p.Glu3682Val) c.4934A>T (p.Glu1645Val) c.11081A>T (p.Glu3694Val) c.4691A>T (p.Glu1564Val) c.10883A>T (p.Glu3628Val) c.4763A>T (p.Glu1588Val) c.4307A>T (p.Glu1436Val) c.2438A>T (p.Glu813Val) c.10859A>T (p.Glu3620Val) c.2417A>T (p.Glu806Val) c.11090A>T (p.Glu3697Val) c.4655A>T (p.Glu1552Val) c.4397A>T (p.Glu1466Val) c.10919A>T (p.Glu3640Val) c.4889A>T (p.Glu1630Val) c.2174A>T (p.Glu725Val) c.845A>T (p.Glu282Val) c.1893A>T c.*2505A>T (n.*2505A>T) c.11177A>T (p.Glu3726Val) c.4886A>T (p.Glu1629Val) c.11231A>T (p.Glu3744Val) c.11195A>T (p.Glu3732Val) c.4943A>T (p.Glu1648Val) c.4976A>T (p.Glu1659Val) c.4907A>T (p.Glu1636Val) c.11171A>T (p.Glu3724Val) c.11216A>T (p.Glu3739Val) c.4901A>T (p.Glu1634Val) c.4868A>T (p.Glu1623Val) c.4931A>T (p.Glu1644Val) c.4787A>T (p.Glu1596Val) c.4967A>T (p.Glu1656Val) c.4859A>T (p.Glu1620Val) c.4823A>T (p.Glu1608Val) c.4838A>T (p.Glu1613Val) c.4748A>T (p.Glu1583Val) c.4676A>T (p.Glu1559Val) c.4760A>T (p.Glu1587Val) c.4589A>T (p.Glu1530Val) c.11261A>T (p.Glu3754Val) c.11147A>T (p.Glu3716Val) c.11117A>T (p.Glu3706Val) c.11180A>T (p.Glu3727Val) c.10910A>T (p.Glu3637Val) c.4670A>T (p.Glu1557Val) c.4715A>T (p.Glu1572Val) c.4874A>T (p.Glu1625Val) c.4946A>T (p.Glu1649Val) c.4406A>T (p.Glu1469Val) c.4733A>T (p.Glu1578Val) c.7544A>T (p.Glu2515Val) c.1289A>T (p.Glu430Val) c.4754A>T (p.Glu1585Val) | |
4 | g.113367678_113367682del | CA2695203752 | ANK2 | c.11286_11290del (p.Glu3762AspfsTer16) c.4971_4975del (p.Glu1657AspfsTer16) c.1572_1576del (p.Glu524AspfsTer16) c.2070_2074del (p.Glu690AspfsTer16) n.2527_2531del n.1735_1739del n.2479_2483del n.1308_1312del n.3270_3274del n.1251_1255del n.1644_1648del n.7990_7994del n.2616_2620del n.600_604del n.3034_3038del n.1249_1253del c.11145_11149del (p.Glu3715AspfsTer16) c.10983_10987del (p.Glu3661AspfsTer16) c.2277_2281del (p.Glu759AspfsTer16) c.600_604del (p.Glu200AspfsTer16) c.4704_4708del (p.Glu1568AspfsTer16) c.4791_4795del (p.Glu1597AspfsTer16) c.4728_4732del (p.Glu1576AspfsTer16) c.4926_4930del (p.Glu1642AspfsTer16) c.4827_4831del (p.Glu1609AspfsTer16) c.11019_11023del (p.Glu3673AspfsTer16) c.4629_4633del (p.Glu1543AspfsTer16) c.*383_*387del (n.*383_*387del) c.10962_10966del (p.Glu3654AspfsTer16) c.4506_4510del (p.Glu1502AspfsTer16) c.10959_10963del (p.Glu3653AspfsTer16) c.4605_4609del (p.Glu1535AspfsTer16) c.11190_11194del (p.Glu3730AspfsTer16) c.4740_4744del (p.Glu1580AspfsTer16) c.4725_4729del (p.Glu1575AspfsTer16) c.11226_11230del (p.Glu3742AspfsTer16) c.4713_4717del (p.Glu1571AspfsTer16) c.10947_10951del (p.Glu3649AspfsTer16) c.4665_4669del (p.Glu1555AspfsTer16) c.4863_4867del (p.Glu1621AspfsTer16) c.2454_2458del (p.Glu818AspfsTer16) c.11046_11050del (p.Glu3682AspfsTer16) c.4935_4939del (p.Glu1645AspfsTer16) c.11082_11086del (p.Glu3694AspfsTer16) c.4692_4696del (p.Glu1564AspfsTer16) c.10884_10888del (p.Glu3628AspfsTer16) c.4764_4768del (p.Glu1588AspfsTer16) c.4308_4312del (p.Glu1436AspfsTer16) c.2439_2443del (p.Glu813AspfsTer16) c.10860_10864del (p.Glu3620AspfsTer16) c.2418_2422del (p.Glu806AspfsTer16) c.11091_11095del (p.Glu3697AspfsTer16) c.4656_4660del (p.Glu1552AspfsTer16) c.4398_4402del (p.Glu1466AspfsTer16) c.10920_10924del (p.Glu3640AspfsTer16) c.4890_4894del (p.Glu1630AspfsTer16) c.2175_2179del (p.Glu725AspfsTer16) c.846_850del (p.Glu282AspfsTer16) c.1894_1898del c.*2506_*2510del (n.*2506_*2510del) c.11178_11182del (p.Glu3726AspfsTer16) c.4887_4891del (p.Glu1629AspfsTer16) c.11232_11236del (p.Glu3744AspfsTer16) c.11196_11200del (p.Glu3732AspfsTer16) c.4944_4948del (p.Glu1648AspfsTer16) c.4977_4981del (p.Glu1659AspfsTer16) c.4908_4912del (p.Glu1636AspfsTer16) c.11172_11176del (p.Glu3724AspfsTer16) c.11217_11221del (p.Glu3739AspfsTer16) c.4902_4906del (p.Glu1634AspfsTer16) c.4869_4873del (p.Glu1623AspfsTer16) c.4932_4936del (p.Glu1644AspfsTer16) c.4788_4792del (p.Glu1596AspfsTer16) c.4968_4972del (p.Glu1656AspfsTer16) c.4860_4864del (p.Glu1620AspfsTer16) c.4824_4828del (p.Glu1608AspfsTer16) c.4839_4843del (p.Glu1613AspfsTer16) c.4749_4753del (p.Glu1583AspfsTer16) c.4677_4681del (p.Glu1559AspfsTer16) c.4761_4765del (p.Glu1587AspfsTer16) c.4590_4594del (p.Glu1530AspfsTer16) c.11262_11266del (p.Glu3754AspfsTer16) c.11148_11152del (p.Glu3716AspfsTer16) c.11118_11122del (p.Glu3706AspfsTer16) c.11181_11185del (p.Glu3727AspfsTer16) c.10911_10915del (p.Glu3637AspfsTer16) c.4671_4675del (p.Glu1557AspfsTer16) c.4716_4720del (p.Glu1572AspfsTer16) c.4875_4879del (p.Glu1625AspfsTer16) c.4947_4951del (p.Glu1649AspfsTer16) c.4407_4411del (p.Glu1469AspfsTer16) c.4734_4738del (p.Glu1578AspfsTer16) c.7545_7549del (p.Glu2515AspfsTer16) c.1290_1294del (p.Glu430AspfsTer16) c.4755_4759del (p.Glu1585AspfsTer16) | |
4 | g.113367678A>C | CA357942063 | ANK2 | c.11286A>C (p.Glu3762Asp) c.4971A>C (p.Glu1657Asp) c.1572A>C (p.Glu524Asp) c.2070A>C (p.Glu690Asp) n.2527A>C n.1735A>C n.2479A>C n.1308A>C n.3270A>C n.1251A>C n.1644A>C n.7990A>C n.2616A>C n.600A>C n.3034A>C n.1249A>C c.11145A>C (p.Glu3715Asp) c.10983A>C (p.Glu3661Asp) c.2277A>C (p.Glu759Asp) c.600A>C (p.Glu200Asp) c.4704A>C (p.Glu1568Asp) c.4791A>C (p.Glu1597Asp) c.4728A>C (p.Glu1576Asp) c.4926A>C (p.Glu1642Asp) c.4827A>C (p.Glu1609Asp) c.11019A>C (p.Glu3673Asp) c.4629A>C (p.Glu1543Asp) c.*383A>C (n.*383A>C) c.10962A>C (p.Glu3654Asp) c.4506A>C (p.Glu1502Asp) c.10959A>C (p.Glu3653Asp) c.4605A>C (p.Glu1535Asp) c.11190A>C (p.Glu3730Asp) c.4740A>C (p.Glu1580Asp) c.4725A>C (p.Glu1575Asp) c.11226A>C (p.Glu3742Asp) c.4713A>C (p.Glu1571Asp) c.10947A>C (p.Glu3649Asp) c.4665A>C (p.Glu1555Asp) c.4863A>C (p.Glu1621Asp) c.2454A>C (p.Glu818Asp) c.11046A>C (p.Glu3682Asp) c.4935A>C (p.Glu1645Asp) c.11082A>C (p.Glu3694Asp) c.4692A>C (p.Glu1564Asp) c.10884A>C (p.Glu3628Asp) c.4764A>C (p.Glu1588Asp) c.4308A>C (p.Glu1436Asp) c.2439A>C (p.Glu813Asp) c.10860A>C (p.Glu3620Asp) c.2418A>C (p.Glu806Asp) c.11091A>C (p.Glu3697Asp) c.4656A>C (p.Glu1552Asp) c.4398A>C (p.Glu1466Asp) c.10920A>C (p.Glu3640Asp) c.4890A>C (p.Glu1630Asp) c.2175A>C (p.Glu725Asp) c.846A>C (p.Glu282Asp) c.1894A>C c.*2506A>C (n.*2506A>C) c.11178A>C (p.Glu3726Asp) c.4887A>C (p.Glu1629Asp) c.11232A>C (p.Glu3744Asp) c.11196A>C (p.Glu3732Asp) c.4944A>C (p.Glu1648Asp) c.4977A>C (p.Glu1659Asp) c.4908A>C (p.Glu1636Asp) c.11172A>C (p.Glu3724Asp) c.11217A>C (p.Glu3739Asp) c.4902A>C (p.Glu1634Asp) c.4869A>C (p.Glu1623Asp) c.4932A>C (p.Glu1644Asp) c.4788A>C (p.Glu1596Asp) c.4968A>C (p.Glu1656Asp) c.4860A>C (p.Glu1620Asp) c.4824A>C (p.Glu1608Asp) c.4839A>C (p.Glu1613Asp) c.4749A>C (p.Glu1583Asp) c.4677A>C (p.Glu1559Asp) c.4761A>C (p.Glu1587Asp) c.4590A>C (p.Glu1530Asp) c.11262A>C (p.Glu3754Asp) c.11148A>C (p.Glu3716Asp) c.11118A>C (p.Glu3706Asp) c.11181A>C (p.Glu3727Asp) c.10911A>C (p.Glu3637Asp) c.4671A>C (p.Glu1557Asp) c.4716A>C (p.Glu1572Asp) c.4875A>C (p.Glu1625Asp) c.4947A>C (p.Glu1649Asp) c.4407A>C (p.Glu1469Asp) c.4734A>C (p.Glu1578Asp) c.7545A>C (p.Glu2515Asp) c.1290A>C (p.Glu430Asp) c.4755A>C (p.Glu1585Asp) | gnomAD v4 |
4 | g.113367678A>G | CA440832845 | ANK2 | c.11286A>G (p.Glu3762=) c.4971A>G (p.Glu1657=) c.1572A>G (p.Glu524=) c.2070A>G (p.Glu690=) n.2527A>G n.1735A>G n.2479A>G n.1308A>G n.3270A>G n.1251A>G n.1644A>G n.7990A>G n.2616A>G n.600A>G n.3034A>G n.1249A>G c.11145A>G (p.Glu3715=) c.10983A>G (p.Glu3661=) c.2277A>G (p.Glu759=) c.600A>G (p.Glu200=) c.4704A>G (p.Glu1568=) c.4791A>G (p.Glu1597=) c.4728A>G (p.Glu1576=) c.4926A>G (p.Glu1642=) c.4827A>G (p.Glu1609=) c.11019A>G (p.Glu3673=) c.4629A>G (p.Glu1543=) c.*383A>G (n.*383A>G) c.10962A>G (p.Glu3654=) c.4506A>G (p.Glu1502=) c.10959A>G (p.Glu3653=) c.4605A>G (p.Glu1535=) c.11190A>G (p.Glu3730=) c.4740A>G (p.Glu1580=) c.4725A>G (p.Glu1575=) c.11226A>G (p.Glu3742=) c.4713A>G (p.Glu1571=) c.10947A>G (p.Glu3649=) c.4665A>G (p.Glu1555=) c.4863A>G (p.Glu1621=) c.2454A>G (p.Glu818=) c.11046A>G (p.Glu3682=) c.4935A>G (p.Glu1645=) c.11082A>G (p.Glu3694=) c.4692A>G (p.Glu1564=) c.10884A>G (p.Glu3628=) c.4764A>G (p.Glu1588=) c.4308A>G (p.Glu1436=) c.2439A>G (p.Glu813=) c.10860A>G (p.Glu3620=) c.2418A>G (p.Glu806=) c.11091A>G (p.Glu3697=) c.4656A>G (p.Glu1552=) c.4398A>G (p.Glu1466=) c.10920A>G (p.Glu3640=) c.4890A>G (p.Glu1630=) c.2175A>G (p.Glu725=) c.846A>G (p.Glu282=) c.1894A>G c.*2506A>G (n.*2506A>G) c.11178A>G (p.Glu3726=) c.4887A>G (p.Glu1629=) c.11232A>G (p.Glu3744=) c.11196A>G (p.Glu3732=) c.4944A>G (p.Glu1648=) c.4977A>G (p.Glu1659=) c.4908A>G (p.Glu1636=) c.11172A>G (p.Glu3724=) c.11217A>G (p.Glu3739=) c.4902A>G (p.Glu1634=) c.4869A>G (p.Glu1623=) c.4932A>G (p.Glu1644=) c.4788A>G (p.Glu1596=) c.4968A>G (p.Glu1656=) c.4860A>G (p.Glu1620=) c.4824A>G (p.Glu1608=) c.4839A>G (p.Glu1613=) c.4749A>G (p.Glu1583=) c.4677A>G (p.Glu1559=) c.4761A>G (p.Glu1587=) c.4590A>G (p.Glu1530=) c.11262A>G (p.Glu3754=) c.11148A>G (p.Glu3716=) c.11118A>G (p.Glu3706=) c.11181A>G (p.Glu3727=) c.10911A>G (p.Glu3637=) c.4671A>G (p.Glu1557=) c.4716A>G (p.Glu1572=) c.4875A>G (p.Glu1625=) c.4947A>G (p.Glu1649=) c.4407A>G (p.Glu1469=) c.4734A>G (p.Glu1578=) c.7545A>G (p.Glu2515=) c.1290A>G (p.Glu430=) c.4755A>G (p.Glu1585=) | |
4 | g.113367678A>T | CA357942064 | ANK2 | c.11286A>T (p.Glu3762Asp) c.4971A>T (p.Glu1657Asp) c.1572A>T (p.Glu524Asp) c.2070A>T (p.Glu690Asp) n.2527A>T n.1735A>T n.2479A>T n.1308A>T n.3270A>T n.1251A>T n.1644A>T n.7990A>T n.2616A>T n.600A>T n.3034A>T n.1249A>T c.11145A>T (p.Glu3715Asp) c.10983A>T (p.Glu3661Asp) c.2277A>T (p.Glu759Asp) c.600A>T (p.Glu200Asp) c.4704A>T (p.Glu1568Asp) c.4791A>T (p.Glu1597Asp) c.4728A>T (p.Glu1576Asp) c.4926A>T (p.Glu1642Asp) c.4827A>T (p.Glu1609Asp) c.11019A>T (p.Glu3673Asp) c.4629A>T (p.Glu1543Asp) c.*383A>T (n.*383A>T) c.10962A>T (p.Glu3654Asp) c.4506A>T (p.Glu1502Asp) c.10959A>T (p.Glu3653Asp) c.4605A>T (p.Glu1535Asp) c.11190A>T (p.Glu3730Asp) c.4740A>T (p.Glu1580Asp) c.4725A>T (p.Glu1575Asp) c.11226A>T (p.Glu3742Asp) c.4713A>T (p.Glu1571Asp) c.10947A>T (p.Glu3649Asp) c.4665A>T (p.Glu1555Asp) c.4863A>T (p.Glu1621Asp) c.2454A>T (p.Glu818Asp) c.11046A>T (p.Glu3682Asp) c.4935A>T (p.Glu1645Asp) c.11082A>T (p.Glu3694Asp) c.4692A>T (p.Glu1564Asp) c.10884A>T (p.Glu3628Asp) c.4764A>T (p.Glu1588Asp) c.4308A>T (p.Glu1436Asp) c.2439A>T (p.Glu813Asp) c.10860A>T (p.Glu3620Asp) c.2418A>T (p.Glu806Asp) c.11091A>T (p.Glu3697Asp) c.4656A>T (p.Glu1552Asp) c.4398A>T (p.Glu1466Asp) c.10920A>T (p.Glu3640Asp) c.4890A>T (p.Glu1630Asp) c.2175A>T (p.Glu725Asp) c.846A>T (p.Glu282Asp) c.1894A>T c.*2506A>T (n.*2506A>T) c.11178A>T (p.Glu3726Asp) c.4887A>T (p.Glu1629Asp) c.11232A>T (p.Glu3744Asp) c.11196A>T (p.Glu3732Asp) c.4944A>T (p.Glu1648Asp) c.4977A>T (p.Glu1659Asp) c.4908A>T (p.Glu1636Asp) c.11172A>T (p.Glu3724Asp) c.11217A>T (p.Glu3739Asp) c.4902A>T (p.Glu1634Asp) c.4869A>T (p.Glu1623Asp) c.4932A>T (p.Glu1644Asp) c.4788A>T (p.Glu1596Asp) c.4968A>T (p.Glu1656Asp) c.4860A>T (p.Glu1620Asp) c.4824A>T (p.Glu1608Asp) c.4839A>T (p.Glu1613Asp) c.4749A>T (p.Glu1583Asp) c.4677A>T (p.Glu1559Asp) c.4761A>T (p.Glu1587Asp) c.4590A>T (p.Glu1530Asp) c.11262A>T (p.Glu3754Asp) c.11148A>T (p.Glu3716Asp) c.11118A>T (p.Glu3706Asp) c.11181A>T (p.Glu3727Asp) c.10911A>T (p.Glu3637Asp) c.4671A>T (p.Glu1557Asp) c.4716A>T (p.Glu1572Asp) c.4875A>T (p.Glu1625Asp) c.4947A>T (p.Glu1649Asp) c.4407A>T (p.Glu1469Asp) c.4734A>T (p.Glu1578Asp) c.7545A>T (p.Glu2515Asp) c.1290A>T (p.Glu430Asp) c.4755A>T (p.Glu1585Asp) | |
4 | g.113367679G>A | CA357942065 | ANK2 | c.11287G>A (p.Asp3763Asn) c.4972G>A (p.Asp1658Asn) c.1573G>A (p.Asp525Asn) c.2071G>A (p.Asp691Asn) n.2528G>A n.1736G>A n.2480G>A n.1309G>A n.3271G>A n.1252G>A n.1645G>A n.7991G>A n.2617G>A n.601G>A n.3035G>A n.1250G>A c.11146G>A (p.Asp3716Asn) c.10984G>A (p.Asp3662Asn) c.2278G>A (p.Asp760Asn) c.601G>A (p.Asp201Asn) c.4705G>A (p.Asp1569Asn) c.4792G>A (p.Asp1598Asn) c.4729G>A (p.Asp1577Asn) c.4927G>A (p.Asp1643Asn) c.4828G>A (p.Asp1610Asn) c.11020G>A (p.Asp3674Asn) c.4630G>A (p.Asp1544Asn) c.*384G>A (n.*384G>A) c.10963G>A (p.Asp3655Asn) c.4507G>A (p.Asp1503Asn) c.10960G>A (p.Asp3654Asn) c.4606G>A (p.Asp1536Asn) c.11191G>A (p.Asp3731Asn) c.4741G>A (p.Asp1581Asn) c.4726G>A (p.Asp1576Asn) c.11227G>A (p.Asp3743Asn) c.4714G>A (p.Asp1572Asn) c.10948G>A (p.Asp3650Asn) c.4666G>A (p.Asp1556Asn) c.4864G>A (p.Asp1622Asn) c.2455G>A (p.Asp819Asn) c.11047G>A (p.Asp3683Asn) c.4936G>A (p.Asp1646Asn) c.11083G>A (p.Asp3695Asn) c.4693G>A (p.Asp1565Asn) c.10885G>A (p.Asp3629Asn) c.4765G>A (p.Asp1589Asn) c.4309G>A (p.Asp1437Asn) c.2440G>A (p.Asp814Asn) c.10861G>A (p.Asp3621Asn) c.2419G>A (p.Asp807Asn) c.11092G>A (p.Asp3698Asn) c.4657G>A (p.Asp1553Asn) c.4399G>A (p.Asp1467Asn) c.10921G>A (p.Asp3641Asn) c.4891G>A (p.Asp1631Asn) c.2176G>A (p.Asp726Asn) c.847G>A (p.Asp283Asn) c.1895G>A c.*2507G>A (n.*2507G>A) c.11179G>A (p.Asp3727Asn) c.4888G>A (p.Asp1630Asn) c.11233G>A (p.Asp3745Asn) c.11197G>A (p.Asp3733Asn) c.4945G>A (p.Asp1649Asn) c.4978G>A (p.Asp1660Asn) c.4909G>A (p.Asp1637Asn) c.11173G>A (p.Asp3725Asn) c.11218G>A (p.Asp3740Asn) c.4903G>A (p.Asp1635Asn) c.4870G>A (p.Asp1624Asn) c.4933G>A (p.Asp1645Asn) c.4789G>A (p.Asp1597Asn) c.4969G>A (p.Asp1657Asn) c.4861G>A (p.Asp1621Asn) c.4825G>A (p.Asp1609Asn) c.4840G>A (p.Asp1614Asn) c.4750G>A (p.Asp1584Asn) c.4678G>A (p.Asp1560Asn) c.4762G>A (p.Asp1588Asn) c.4591G>A (p.Asp1531Asn) c.11263G>A (p.Asp3755Asn) c.11149G>A (p.Asp3717Asn) c.11119G>A (p.Asp3707Asn) c.11182G>A (p.Asp3728Asn) c.10912G>A (p.Asp3638Asn) c.4672G>A (p.Asp1558Asn) c.4717G>A (p.Asp1573Asn) c.4876G>A (p.Asp1626Asn) c.4948G>A (p.Asp1650Asn) c.4408G>A (p.Asp1470Asn) c.4735G>A (p.Asp1579Asn) c.7546G>A (p.Asp2516Asn) c.1291G>A (p.Asp431Asn) c.4756G>A (p.Asp1586Asn) | |
4 | g.113367679G>C | CA357942066 | ANK2 | c.11287G>C (p.Asp3763His) c.4972G>C (p.Asp1658His) c.1573G>C (p.Asp525His) c.2071G>C (p.Asp691His) n.2528G>C n.1736G>C n.2480G>C n.1309G>C n.3271G>C n.1252G>C n.1645G>C n.7991G>C n.2617G>C n.601G>C n.3035G>C n.1250G>C c.11146G>C (p.Asp3716His) c.10984G>C (p.Asp3662His) c.2278G>C (p.Asp760His) c.601G>C (p.Asp201His) c.4705G>C (p.Asp1569His) c.4792G>C (p.Asp1598His) c.4729G>C (p.Asp1577His) c.4927G>C (p.Asp1643His) c.4828G>C (p.Asp1610His) c.11020G>C (p.Asp3674His) c.4630G>C (p.Asp1544His) c.*384G>C (n.*384G>C) c.10963G>C (p.Asp3655His) c.4507G>C (p.Asp1503His) c.10960G>C (p.Asp3654His) c.4606G>C (p.Asp1536His) c.11191G>C (p.Asp3731His) c.4741G>C (p.Asp1581His) c.4726G>C (p.Asp1576His) c.11227G>C (p.Asp3743His) c.4714G>C (p.Asp1572His) c.10948G>C (p.Asp3650His) c.4666G>C (p.Asp1556His) c.4864G>C (p.Asp1622His) c.2455G>C (p.Asp819His) c.11047G>C (p.Asp3683His) c.4936G>C (p.Asp1646His) c.11083G>C (p.Asp3695His) c.4693G>C (p.Asp1565His) c.10885G>C (p.Asp3629His) c.4765G>C (p.Asp1589His) c.4309G>C (p.Asp1437His) c.2440G>C (p.Asp814His) c.10861G>C (p.Asp3621His) c.2419G>C (p.Asp807His) c.11092G>C (p.Asp3698His) c.4657G>C (p.Asp1553His) c.4399G>C (p.Asp1467His) c.10921G>C (p.Asp3641His) c.4891G>C (p.Asp1631His) c.2176G>C (p.Asp726His) c.847G>C (p.Asp283His) c.1895G>C c.*2507G>C (n.*2507G>C) c.11179G>C (p.Asp3727His) c.4888G>C (p.Asp1630His) c.11233G>C (p.Asp3745His) c.11197G>C (p.Asp3733His) c.4945G>C (p.Asp1649His) c.4978G>C (p.Asp1660His) c.4909G>C (p.Asp1637His) c.11173G>C (p.Asp3725His) c.11218G>C (p.Asp3740His) c.4903G>C (p.Asp1635His) c.4870G>C (p.Asp1624His) c.4933G>C (p.Asp1645His) c.4789G>C (p.Asp1597His) c.4969G>C (p.Asp1657His) c.4861G>C (p.Asp1621His) c.4825G>C (p.Asp1609His) c.4840G>C (p.Asp1614His) c.4750G>C (p.Asp1584His) c.4678G>C (p.Asp1560His) c.4762G>C (p.Asp1588His) c.4591G>C (p.Asp1531His) c.11263G>C (p.Asp3755His) c.11149G>C (p.Asp3717His) c.11119G>C (p.Asp3707His) c.11182G>C (p.Asp3728His) c.10912G>C (p.Asp3638His) c.4672G>C (p.Asp1558His) c.4717G>C (p.Asp1573His) c.4876G>C (p.Asp1626His) c.4948G>C (p.Asp1650His) c.4408G>C (p.Asp1470His) c.4735G>C (p.Asp1579His) c.7546G>C (p.Asp2516His) c.1291G>C (p.Asp431His) c.4756G>C (p.Asp1586His) | gnomAD v4 |
4 | g.113367679G>T | CA357942067 | ANK2 | c.11287G>T (p.Asp3763Tyr) c.4972G>T (p.Asp1658Tyr) c.1573G>T (p.Asp525Tyr) c.2071G>T (p.Asp691Tyr) n.2528G>T n.1736G>T n.2480G>T n.1309G>T n.3271G>T n.1252G>T n.1645G>T n.7991G>T n.2617G>T n.601G>T n.3035G>T n.1250G>T c.11146G>T (p.Asp3716Tyr) c.10984G>T (p.Asp3662Tyr) c.2278G>T (p.Asp760Tyr) c.601G>T (p.Asp201Tyr) c.4705G>T (p.Asp1569Tyr) c.4792G>T (p.Asp1598Tyr) c.4729G>T (p.Asp1577Tyr) c.4927G>T (p.Asp1643Tyr) c.4828G>T (p.Asp1610Tyr) c.11020G>T (p.Asp3674Tyr) c.4630G>T (p.Asp1544Tyr) c.*384G>T (n.*384G>T) c.10963G>T (p.Asp3655Tyr) c.4507G>T (p.Asp1503Tyr) c.10960G>T (p.Asp3654Tyr) c.4606G>T (p.Asp1536Tyr) c.11191G>T (p.Asp3731Tyr) c.4741G>T (p.Asp1581Tyr) c.4726G>T (p.Asp1576Tyr) c.11227G>T (p.Asp3743Tyr) c.4714G>T (p.Asp1572Tyr) c.10948G>T (p.Asp3650Tyr) c.4666G>T (p.Asp1556Tyr) c.4864G>T (p.Asp1622Tyr) c.2455G>T (p.Asp819Tyr) c.11047G>T (p.Asp3683Tyr) c.4936G>T (p.Asp1646Tyr) c.11083G>T (p.Asp3695Tyr) c.4693G>T (p.Asp1565Tyr) c.10885G>T (p.Asp3629Tyr) c.4765G>T (p.Asp1589Tyr) c.4309G>T (p.Asp1437Tyr) c.2440G>T (p.Asp814Tyr) c.10861G>T (p.Asp3621Tyr) c.2419G>T (p.Asp807Tyr) c.11092G>T (p.Asp3698Tyr) c.4657G>T (p.Asp1553Tyr) c.4399G>T (p.Asp1467Tyr) c.10921G>T (p.Asp3641Tyr) c.4891G>T (p.Asp1631Tyr) c.2176G>T (p.Asp726Tyr) c.847G>T (p.Asp283Tyr) c.1895G>T c.*2507G>T (n.*2507G>T) c.11179G>T (p.Asp3727Tyr) c.4888G>T (p.Asp1630Tyr) c.11233G>T (p.Asp3745Tyr) c.11197G>T (p.Asp3733Tyr) c.4945G>T (p.Asp1649Tyr) c.4978G>T (p.Asp1660Tyr) c.4909G>T (p.Asp1637Tyr) c.11173G>T (p.Asp3725Tyr) c.11218G>T (p.Asp3740Tyr) c.4903G>T (p.Asp1635Tyr) c.4870G>T (p.Asp1624Tyr) c.4933G>T (p.Asp1645Tyr) c.4789G>T (p.Asp1597Tyr) c.4969G>T (p.Asp1657Tyr) c.4861G>T (p.Asp1621Tyr) c.4825G>T (p.Asp1609Tyr) c.4840G>T (p.Asp1614Tyr) c.4750G>T (p.Asp1584Tyr) c.4678G>T (p.Asp1560Tyr) c.4762G>T (p.Asp1588Tyr) c.4591G>T (p.Asp1531Tyr) c.11263G>T (p.Asp3755Tyr) c.11149G>T (p.Asp3717Tyr) c.11119G>T (p.Asp3707Tyr) c.11182G>T (p.Asp3728Tyr) c.10912G>T (p.Asp3638Tyr) c.4672G>T (p.Asp1558Tyr) c.4717G>T (p.Asp1573Tyr) c.4876G>T (p.Asp1626Tyr) c.4948G>T (p.Asp1650Tyr) c.4408G>T (p.Asp1470Tyr) c.4735G>T (p.Asp1579Tyr) c.7546G>T (p.Asp2516Tyr) c.1291G>T (p.Asp431Tyr) c.4756G>T (p.Asp1586Tyr) | |
4 | g.113367680A>C | CA357942068 | ANK2 | c.11288A>C (p.Asp3763Ala) c.4973A>C (p.Asp1658Ala) c.1574A>C (p.Asp525Ala) c.2072A>C (p.Asp691Ala) n.2529A>C n.1737A>C n.2481A>C n.1310A>C n.3272A>C n.1253A>C n.1646A>C n.7992A>C n.2618A>C n.602A>C n.3036A>C n.1251A>C c.11147A>C (p.Asp3716Ala) c.10985A>C (p.Asp3662Ala) c.2279A>C (p.Asp760Ala) c.602A>C (p.Asp201Ala) c.4706A>C (p.Asp1569Ala) c.4793A>C (p.Asp1598Ala) c.4730A>C (p.Asp1577Ala) c.4928A>C (p.Asp1643Ala) c.4829A>C (p.Asp1610Ala) c.11021A>C (p.Asp3674Ala) c.4631A>C (p.Asp1544Ala) c.*385A>C (n.*385A>C) c.10964A>C (p.Asp3655Ala) c.4508A>C (p.Asp1503Ala) c.10961A>C (p.Asp3654Ala) c.4607A>C (p.Asp1536Ala) c.11192A>C (p.Asp3731Ala) c.4742A>C (p.Asp1581Ala) c.4727A>C (p.Asp1576Ala) c.11228A>C (p.Asp3743Ala) c.4715A>C (p.Asp1572Ala) c.10949A>C (p.Asp3650Ala) c.4667A>C (p.Asp1556Ala) c.4865A>C (p.Asp1622Ala) c.2456A>C (p.Asp819Ala) c.11048A>C (p.Asp3683Ala) c.4937A>C (p.Asp1646Ala) c.11084A>C (p.Asp3695Ala) c.4694A>C (p.Asp1565Ala) c.10886A>C (p.Asp3629Ala) c.4766A>C (p.Asp1589Ala) c.4310A>C (p.Asp1437Ala) c.2441A>C (p.Asp814Ala) c.10862A>C (p.Asp3621Ala) c.2420A>C (p.Asp807Ala) c.11093A>C (p.Asp3698Ala) c.4658A>C (p.Asp1553Ala) c.4400A>C (p.Asp1467Ala) c.10922A>C (p.Asp3641Ala) c.4892A>C (p.Asp1631Ala) c.2177A>C (p.Asp726Ala) c.848A>C (p.Asp283Ala) c.1896A>C c.*2508A>C (n.*2508A>C) c.11180A>C (p.Asp3727Ala) c.4889A>C (p.Asp1630Ala) c.11234A>C (p.Asp3745Ala) c.11198A>C (p.Asp3733Ala) c.4946A>C (p.Asp1649Ala) c.4979A>C (p.Asp1660Ala) c.4910A>C (p.Asp1637Ala) c.11174A>C (p.Asp3725Ala) c.11219A>C (p.Asp3740Ala) c.4904A>C (p.Asp1635Ala) c.4871A>C (p.Asp1624Ala) c.4934A>C (p.Asp1645Ala) c.4790A>C (p.Asp1597Ala) c.4970A>C (p.Asp1657Ala) c.4862A>C (p.Asp1621Ala) c.4826A>C (p.Asp1609Ala) c.4841A>C (p.Asp1614Ala) c.4751A>C (p.Asp1584Ala) c.4679A>C (p.Asp1560Ala) c.4763A>C (p.Asp1588Ala) c.4592A>C (p.Asp1531Ala) c.11264A>C (p.Asp3755Ala) c.11150A>C (p.Asp3717Ala) c.11120A>C (p.Asp3707Ala) c.11183A>C (p.Asp3728Ala) c.10913A>C (p.Asp3638Ala) c.4673A>C (p.Asp1558Ala) c.4718A>C (p.Asp1573Ala) c.4877A>C (p.Asp1626Ala) c.4949A>C (p.Asp1650Ala) c.4409A>C (p.Asp1470Ala) c.4736A>C (p.Asp1579Ala) c.7547A>C (p.Asp2516Ala) c.1292A>C (p.Asp431Ala) c.4757A>C (p.Asp1586Ala) |