Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.113363342A>C | CA357941171 | ANK2 | c.10902A>C (p.Leu3634Phe) c.4587A>C (p.Leu1529Phe) c.1188A>C (p.Leu396Phe) c.1686A>C (p.Leu562Phe) n.2143A>C n.1351A>C n.2095A>C n.924A>C n.3519A>C n.2886A>C n.1260A>C n.7606A>C n.2232A>C n.2650A>C c.10761A>C (p.Leu3587Phe) c.10599A>C (p.Leu3533Phe) c.1893A>C (p.Leu631Phe) c.216A>C (p.Leu72Phe) c.4320A>C (p.Leu1440Phe) c.4407A>C (p.Leu1469Phe) c.4344A>C (p.Leu1448Phe) c.4542A>C (p.Leu1514Phe) c.4443A>C (p.Leu1481Phe) c.10635A>C (p.Leu3545Phe) c.4245A>C (p.Leu1415Phe) c.4322A>C (p.Ter1441Ser) c.10578A>C (p.Leu3526Phe) c.4122A>C (p.Leu1374Phe) c.10575A>C (p.Leu3525Phe) c.4221A>C (p.Leu1407Phe) c.10806A>C (p.Leu3602Phe) c.4356A>C (p.Leu1452Phe) c.4341A>C (p.Leu1447Phe) c.10842A>C (p.Leu3614Phe) c.4329A>C (p.Leu1443Phe) c.10563A>C (p.Leu3521Phe) c.4281A>C (p.Leu1427Phe) c.4479A>C (p.Leu1493Phe) c.2070A>C (p.Leu690Phe) c.10662A>C (p.Leu3554Phe) c.4551A>C (p.Leu1517Phe) c.10698A>C (p.Leu3566Phe) c.4308A>C (p.Leu1436Phe) c.10500A>C (p.Leu3500Phe) c.4380A>C (p.Leu1460Phe) c.3924A>C (p.Leu1308Phe) c.2055A>C (p.Leu685Phe) c.10476A>C (p.Leu3492Phe) c.2034A>C (p.Leu678Phe) c.10707A>C (p.Leu3569Phe) c.4272A>C (p.Leu1424Phe) c.4014A>C (p.Leu1338Phe) c.2012A>C (p.Ter671Ser) c.10536A>C (p.Leu3512Phe) c.4506A>C (p.Leu1502Phe) c.463A>C c.1791A>C (p.Leu597Phe) n.615A>C c.462A>C (p.Leu154Phe) c.1510A>C c.*2122A>C (n.*2122A>C) c.10794A>C (p.Leu3598Phe) c.4503A>C (p.Leu1501Phe) c.10848A>C (p.Leu3616Phe) c.10812A>C (p.Leu3604Phe) c.4560A>C (p.Leu1520Phe) c.4593A>C (p.Leu1531Phe) c.4524A>C (p.Leu1508Phe) c.10788A>C (p.Leu3596Phe) c.10833A>C (p.Leu3611Phe) c.4518A>C (p.Leu1506Phe) c.4485A>C (p.Leu1495Phe) c.4548A>C (p.Leu1516Phe) c.4404A>C (p.Leu1468Phe) c.4584A>C (p.Leu1528Phe) c.4476A>C (p.Leu1492Phe) c.4440A>C (p.Leu1480Phe) c.4455A>C (p.Leu1485Phe) c.4365A>C (p.Leu1455Phe) c.4293A>C (p.Leu1431Phe) c.4377A>C (p.Leu1459Phe) c.4206A>C (p.Leu1402Phe) c.10878A>C (p.Leu3626Phe) c.10764A>C (p.Leu3588Phe) c.10734A>C (p.Leu3578Phe) c.10797A>C (p.Leu3599Phe) c.10527A>C (p.Leu3509Phe) c.4287A>C (p.Leu1429Phe) c.4332A>C (p.Leu1444Phe) c.4491A>C (p.Leu1497Phe) c.4563A>C (p.Leu1521Phe) c.4023A>C (p.Leu1341Phe) c.4350A>C (p.Leu1450Phe) c.7161A>C (p.Leu2387Phe) c.906A>C (p.Leu302Phe) c.4371A>C (p.Leu1457Phe) | |
4 | g.113363342A>G | CA440828891 | ANK2 | c.10902A>G (p.Leu3634=) c.4587A>G (p.Leu1529=) c.1188A>G (p.Leu396=) c.1686A>G (p.Leu562=) n.2143A>G n.1351A>G n.2095A>G n.924A>G n.3519A>G n.2886A>G n.1260A>G n.7606A>G n.2232A>G n.2650A>G c.10761A>G (p.Leu3587=) c.10599A>G (p.Leu3533=) c.1893A>G (p.Leu631=) c.216A>G (p.Leu72=) c.4320A>G (p.Leu1440=) c.4407A>G (p.Leu1469=) c.4344A>G (p.Leu1448=) c.4542A>G (p.Leu1514=) c.4443A>G (p.Leu1481=) c.10635A>G (p.Leu3545=) c.4245A>G (p.Leu1415=) c.4322A>G (p.Ter1441Trp) c.10578A>G (p.Leu3526=) c.4122A>G (p.Leu1374=) c.10575A>G (p.Leu3525=) c.4221A>G (p.Leu1407=) c.10806A>G (p.Leu3602=) c.4356A>G (p.Leu1452=) c.4341A>G (p.Leu1447=) c.10842A>G (p.Leu3614=) c.4329A>G (p.Leu1443=) c.10563A>G (p.Leu3521=) c.4281A>G (p.Leu1427=) c.4479A>G (p.Leu1493=) c.2070A>G (p.Leu690=) c.10662A>G (p.Leu3554=) c.4551A>G (p.Leu1517=) c.10698A>G (p.Leu3566=) c.4308A>G (p.Leu1436=) c.10500A>G (p.Leu3500=) c.4380A>G (p.Leu1460=) c.3924A>G (p.Leu1308=) c.2055A>G (p.Leu685=) c.10476A>G (p.Leu3492=) c.2034A>G (p.Leu678=) c.10707A>G (p.Leu3569=) c.4272A>G (p.Leu1424=) c.4014A>G (p.Leu1338=) c.2012A>G (p.Ter671Trp) c.10536A>G (p.Leu3512=) c.4506A>G (p.Leu1502=) c.463A>G c.1791A>G (p.Leu597=) n.615A>G c.462A>G (p.Leu154=) c.1510A>G c.*2122A>G (n.*2122A>G) c.10794A>G (p.Leu3598=) c.4503A>G (p.Leu1501=) c.10848A>G (p.Leu3616=) c.10812A>G (p.Leu3604=) c.4560A>G (p.Leu1520=) c.4593A>G (p.Leu1531=) c.4524A>G (p.Leu1508=) c.10788A>G (p.Leu3596=) c.10833A>G (p.Leu3611=) c.4518A>G (p.Leu1506=) c.4485A>G (p.Leu1495=) c.4548A>G (p.Leu1516=) c.4404A>G (p.Leu1468=) c.4584A>G (p.Leu1528=) c.4476A>G (p.Leu1492=) c.4440A>G (p.Leu1480=) c.4455A>G (p.Leu1485=) c.4365A>G (p.Leu1455=) c.4293A>G (p.Leu1431=) c.4377A>G (p.Leu1459=) c.4206A>G (p.Leu1402=) c.10878A>G (p.Leu3626=) c.10764A>G (p.Leu3588=) c.10734A>G (p.Leu3578=) c.10797A>G (p.Leu3599=) c.10527A>G (p.Leu3509=) c.4287A>G (p.Leu1429=) c.4332A>G (p.Leu1444=) c.4491A>G (p.Leu1497=) c.4563A>G (p.Leu1521=) c.4023A>G (p.Leu1341=) c.4350A>G (p.Leu1450=) c.7161A>G (p.Leu2387=) c.906A>G (p.Leu302=) c.4371A>G (p.Leu1457=) | |
4 | g.113363342A>T | CA357941172 | ANK2 | c.10902A>T (p.Leu3634Phe) c.4587A>T (p.Leu1529Phe) c.1188A>T (p.Leu396Phe) c.1686A>T (p.Leu562Phe) n.2143A>T n.1351A>T n.2095A>T n.924A>T n.3519A>T n.2886A>T n.1260A>T n.7606A>T n.2232A>T n.2650A>T c.10761A>T (p.Leu3587Phe) c.10599A>T (p.Leu3533Phe) c.1893A>T (p.Leu631Phe) c.216A>T (p.Leu72Phe) c.4320A>T (p.Leu1440Phe) c.4407A>T (p.Leu1469Phe) c.4344A>T (p.Leu1448Phe) c.4542A>T (p.Leu1514Phe) c.4443A>T (p.Leu1481Phe) c.10635A>T (p.Leu3545Phe) c.4245A>T (p.Leu1415Phe) c.4322A>T (p.Ter1441Leu) c.10578A>T (p.Leu3526Phe) c.4122A>T (p.Leu1374Phe) c.10575A>T (p.Leu3525Phe) c.4221A>T (p.Leu1407Phe) c.10806A>T (p.Leu3602Phe) c.4356A>T (p.Leu1452Phe) c.4341A>T (p.Leu1447Phe) c.10842A>T (p.Leu3614Phe) c.4329A>T (p.Leu1443Phe) c.10563A>T (p.Leu3521Phe) c.4281A>T (p.Leu1427Phe) c.4479A>T (p.Leu1493Phe) c.2070A>T (p.Leu690Phe) c.10662A>T (p.Leu3554Phe) c.4551A>T (p.Leu1517Phe) c.10698A>T (p.Leu3566Phe) c.4308A>T (p.Leu1436Phe) c.10500A>T (p.Leu3500Phe) c.4380A>T (p.Leu1460Phe) c.3924A>T (p.Leu1308Phe) c.2055A>T (p.Leu685Phe) c.10476A>T (p.Leu3492Phe) c.2034A>T (p.Leu678Phe) c.10707A>T (p.Leu3569Phe) c.4272A>T (p.Leu1424Phe) c.4014A>T (p.Leu1338Phe) c.2012A>T (p.Ter671Leu) c.10536A>T (p.Leu3512Phe) c.4506A>T (p.Leu1502Phe) c.463A>T c.1791A>T (p.Leu597Phe) n.615A>T c.462A>T (p.Leu154Phe) c.1510A>T c.*2122A>T (n.*2122A>T) c.10794A>T (p.Leu3598Phe) c.4503A>T (p.Leu1501Phe) c.10848A>T (p.Leu3616Phe) c.10812A>T (p.Leu3604Phe) c.4560A>T (p.Leu1520Phe) c.4593A>T (p.Leu1531Phe) c.4524A>T (p.Leu1508Phe) c.10788A>T (p.Leu3596Phe) c.10833A>T (p.Leu3611Phe) c.4518A>T (p.Leu1506Phe) c.4485A>T (p.Leu1495Phe) c.4548A>T (p.Leu1516Phe) c.4404A>T (p.Leu1468Phe) c.4584A>T (p.Leu1528Phe) c.4476A>T (p.Leu1492Phe) c.4440A>T (p.Leu1480Phe) c.4455A>T (p.Leu1485Phe) c.4365A>T (p.Leu1455Phe) c.4293A>T (p.Leu1431Phe) c.4377A>T (p.Leu1459Phe) c.4206A>T (p.Leu1402Phe) c.10878A>T (p.Leu3626Phe) c.10764A>T (p.Leu3588Phe) c.10734A>T (p.Leu3578Phe) c.10797A>T (p.Leu3599Phe) c.10527A>T (p.Leu3509Phe) c.4287A>T (p.Leu1429Phe) c.4332A>T (p.Leu1444Phe) c.4491A>T (p.Leu1497Phe) c.4563A>T (p.Leu1521Phe) c.4023A>T (p.Leu1341Phe) c.4350A>T (p.Leu1450Phe) c.7161A>T (p.Leu2387Phe) c.906A>T (p.Leu302Phe) c.4371A>T (p.Leu1457Phe) | dbSNP gnomAD v2 |
4 | g.113363343G>A | CA357941175 | ANK2 | c.10903G>A (p.Ala3635Thr) c.4588G>A (p.Ala1530Thr) c.1189G>A (p.Ala397Thr) c.1687G>A (p.Ala563Thr) n.2144G>A n.1352G>A n.2096G>A n.925G>A n.3520G>A n.2887G>A n.1261G>A n.7607G>A n.2233G>A n.2651G>A c.10762G>A (p.Ala3588Thr) c.10600G>A (p.Ala3534Thr) c.1894G>A (p.Ala632Thr) c.217G>A (p.Ala73Thr) c.4321G>A (p.Ala1441Thr) c.4408G>A (p.Ala1470Thr) c.4345G>A (p.Ala1449Thr) c.4543G>A (p.Ala1515Thr) c.4444G>A (p.Ala1482Thr) c.10636G>A (p.Ala3546Thr) c.4246G>A (p.Ala1416Thr) c.4323G>A (p.Ter1441=) c.10579G>A (p.Ala3527Thr) c.4123G>A (p.Ala1375Thr) c.10576G>A (p.Ala3526Thr) c.4222G>A (p.Ala1408Thr) c.10807G>A (p.Ala3603Thr) c.4357G>A (p.Ala1453Thr) c.4342G>A (p.Ala1448Thr) c.10843G>A (p.Ala3615Thr) c.4330G>A (p.Ala1444Thr) c.10564G>A (p.Ala3522Thr) c.4282G>A (p.Ala1428Thr) c.4480G>A (p.Ala1494Thr) c.2071G>A (p.Ala691Thr) c.10663G>A (p.Ala3555Thr) c.4552G>A (p.Ala1518Thr) c.10699G>A (p.Ala3567Thr) c.4309G>A (p.Ala1437Thr) c.10501G>A (p.Ala3501Thr) c.4381G>A (p.Ala1461Thr) c.3925G>A (p.Ala1309Thr) c.2056G>A (p.Ala686Thr) c.10477G>A (p.Ala3493Thr) c.2035G>A (p.Ala679Thr) c.10708G>A (p.Ala3570Thr) c.4273G>A (p.Ala1425Thr) c.4015G>A (p.Ala1339Thr) c.2013G>A (p.Ter671=) c.10537G>A (p.Ala3513Thr) c.4507G>A (p.Ala1503Thr) c.464G>A c.1792G>A (p.Ala598Thr) n.616G>A c.463G>A (p.Ala155Thr) c.1511G>A c.*2123G>A (n.*2123G>A) c.10795G>A (p.Ala3599Thr) c.4504G>A (p.Ala1502Thr) c.10849G>A (p.Ala3617Thr) c.10813G>A (p.Ala3605Thr) c.4561G>A (p.Ala1521Thr) c.4594G>A (p.Ala1532Thr) c.4525G>A (p.Ala1509Thr) c.10789G>A (p.Ala3597Thr) c.10834G>A (p.Ala3612Thr) c.4519G>A (p.Ala1507Thr) c.4486G>A (p.Ala1496Thr) c.4549G>A (p.Ala1517Thr) c.4405G>A (p.Ala1469Thr) c.4585G>A (p.Ala1529Thr) c.4477G>A (p.Ala1493Thr) c.4441G>A (p.Ala1481Thr) c.4456G>A (p.Ala1486Thr) c.4366G>A (p.Ala1456Thr) c.4294G>A (p.Ala1432Thr) c.4378G>A (p.Ala1460Thr) c.4207G>A (p.Ala1403Thr) c.10879G>A (p.Ala3627Thr) c.10765G>A (p.Ala3589Thr) c.10735G>A (p.Ala3579Thr) c.10798G>A (p.Ala3600Thr) c.10528G>A (p.Ala3510Thr) c.4288G>A (p.Ala1430Thr) c.4333G>A (p.Ala1445Thr) c.4492G>A (p.Ala1498Thr) c.4564G>A (p.Ala1522Thr) c.4024G>A (p.Ala1342Thr) c.4351G>A (p.Ala1451Thr) c.7162G>A (p.Ala2388Thr) c.907G>A (p.Ala303Thr) c.4372G>A (p.Ala1458Thr) | gnomAD v4 |
4 | g.113363343G>C | CA357941173 | ANK2 | c.10903G>C (p.Ala3635Pro) c.4588G>C (p.Ala1530Pro) c.1189G>C (p.Ala397Pro) c.1687G>C (p.Ala563Pro) n.2144G>C n.1352G>C n.2096G>C n.925G>C n.3520G>C n.2887G>C n.1261G>C n.7607G>C n.2233G>C n.2651G>C c.10762G>C (p.Ala3588Pro) c.10600G>C (p.Ala3534Pro) c.1894G>C (p.Ala632Pro) c.217G>C (p.Ala73Pro) c.4321G>C (p.Ala1441Pro) c.4408G>C (p.Ala1470Pro) c.4345G>C (p.Ala1449Pro) c.4543G>C (p.Ala1515Pro) c.4444G>C (p.Ala1482Pro) c.10636G>C (p.Ala3546Pro) c.4246G>C (p.Ala1416Pro) c.4323G>C (p.Ter1441Tyr) c.10579G>C (p.Ala3527Pro) c.4123G>C (p.Ala1375Pro) c.10576G>C (p.Ala3526Pro) c.4222G>C (p.Ala1408Pro) c.10807G>C (p.Ala3603Pro) c.4357G>C (p.Ala1453Pro) c.4342G>C (p.Ala1448Pro) c.10843G>C (p.Ala3615Pro) c.4330G>C (p.Ala1444Pro) c.10564G>C (p.Ala3522Pro) c.4282G>C (p.Ala1428Pro) c.4480G>C (p.Ala1494Pro) c.2071G>C (p.Ala691Pro) c.10663G>C (p.Ala3555Pro) c.4552G>C (p.Ala1518Pro) c.10699G>C (p.Ala3567Pro) c.4309G>C (p.Ala1437Pro) c.10501G>C (p.Ala3501Pro) c.4381G>C (p.Ala1461Pro) c.3925G>C (p.Ala1309Pro) c.2056G>C (p.Ala686Pro) c.10477G>C (p.Ala3493Pro) c.2035G>C (p.Ala679Pro) c.10708G>C (p.Ala3570Pro) c.4273G>C (p.Ala1425Pro) c.4015G>C (p.Ala1339Pro) c.2013G>C (p.Ter671Tyr) c.10537G>C (p.Ala3513Pro) c.4507G>C (p.Ala1503Pro) c.464G>C c.1792G>C (p.Ala598Pro) n.616G>C c.463G>C (p.Ala155Pro) c.1511G>C c.*2123G>C (n.*2123G>C) c.10795G>C (p.Ala3599Pro) c.4504G>C (p.Ala1502Pro) c.10849G>C (p.Ala3617Pro) c.10813G>C (p.Ala3605Pro) c.4561G>C (p.Ala1521Pro) c.4594G>C (p.Ala1532Pro) c.4525G>C (p.Ala1509Pro) c.10789G>C (p.Ala3597Pro) c.10834G>C (p.Ala3612Pro) c.4519G>C (p.Ala1507Pro) c.4486G>C (p.Ala1496Pro) c.4549G>C (p.Ala1517Pro) c.4405G>C (p.Ala1469Pro) c.4585G>C (p.Ala1529Pro) c.4477G>C (p.Ala1493Pro) c.4441G>C (p.Ala1481Pro) c.4456G>C (p.Ala1486Pro) c.4366G>C (p.Ala1456Pro) c.4294G>C (p.Ala1432Pro) c.4378G>C (p.Ala1460Pro) c.4207G>C (p.Ala1403Pro) c.10879G>C (p.Ala3627Pro) c.10765G>C (p.Ala3589Pro) c.10735G>C (p.Ala3579Pro) c.10798G>C (p.Ala3600Pro) c.10528G>C (p.Ala3510Pro) c.4288G>C (p.Ala1430Pro) c.4333G>C (p.Ala1445Pro) c.4492G>C (p.Ala1498Pro) c.4564G>C (p.Ala1522Pro) c.4024G>C (p.Ala1342Pro) c.4351G>C (p.Ala1451Pro) c.7162G>C (p.Ala2388Pro) c.907G>C (p.Ala303Pro) c.4372G>C (p.Ala1458Pro) | |
4 | g.113363343G>T | CA357941174 | ANK2 | c.10903G>T (p.Ala3635Ser) c.4588G>T (p.Ala1530Ser) c.1189G>T (p.Ala397Ser) c.1687G>T (p.Ala563Ser) n.2144G>T n.1352G>T n.2096G>T n.925G>T n.3520G>T n.2887G>T n.1261G>T n.7607G>T n.2233G>T n.2651G>T c.10762G>T (p.Ala3588Ser) c.10600G>T (p.Ala3534Ser) c.1894G>T (p.Ala632Ser) c.217G>T (p.Ala73Ser) c.4321G>T (p.Ala1441Ser) c.4408G>T (p.Ala1470Ser) c.4345G>T (p.Ala1449Ser) c.4543G>T (p.Ala1515Ser) c.4444G>T (p.Ala1482Ser) c.10636G>T (p.Ala3546Ser) c.4246G>T (p.Ala1416Ser) c.4323G>T (p.Ter1441Tyr) c.10579G>T (p.Ala3527Ser) c.4123G>T (p.Ala1375Ser) c.10576G>T (p.Ala3526Ser) c.4222G>T (p.Ala1408Ser) c.10807G>T (p.Ala3603Ser) c.4357G>T (p.Ala1453Ser) c.4342G>T (p.Ala1448Ser) c.10843G>T (p.Ala3615Ser) c.4330G>T (p.Ala1444Ser) c.10564G>T (p.Ala3522Ser) c.4282G>T (p.Ala1428Ser) c.4480G>T (p.Ala1494Ser) c.2071G>T (p.Ala691Ser) c.10663G>T (p.Ala3555Ser) c.4552G>T (p.Ala1518Ser) c.10699G>T (p.Ala3567Ser) c.4309G>T (p.Ala1437Ser) c.10501G>T (p.Ala3501Ser) c.4381G>T (p.Ala1461Ser) c.3925G>T (p.Ala1309Ser) c.2056G>T (p.Ala686Ser) c.10477G>T (p.Ala3493Ser) c.2035G>T (p.Ala679Ser) c.10708G>T (p.Ala3570Ser) c.4273G>T (p.Ala1425Ser) c.4015G>T (p.Ala1339Ser) c.2013G>T (p.Ter671Tyr) c.10537G>T (p.Ala3513Ser) c.4507G>T (p.Ala1503Ser) c.464G>T c.1792G>T (p.Ala598Ser) n.616G>T c.463G>T (p.Ala155Ser) c.1511G>T c.*2123G>T (n.*2123G>T) c.10795G>T (p.Ala3599Ser) c.4504G>T (p.Ala1502Ser) c.10849G>T (p.Ala3617Ser) c.10813G>T (p.Ala3605Ser) c.4561G>T (p.Ala1521Ser) c.4594G>T (p.Ala1532Ser) c.4525G>T (p.Ala1509Ser) c.10789G>T (p.Ala3597Ser) c.10834G>T (p.Ala3612Ser) c.4519G>T (p.Ala1507Ser) c.4486G>T (p.Ala1496Ser) c.4549G>T (p.Ala1517Ser) c.4405G>T (p.Ala1469Ser) c.4585G>T (p.Ala1529Ser) c.4477G>T (p.Ala1493Ser) c.4441G>T (p.Ala1481Ser) c.4456G>T (p.Ala1486Ser) c.4366G>T (p.Ala1456Ser) c.4294G>T (p.Ala1432Ser) c.4378G>T (p.Ala1460Ser) c.4207G>T (p.Ala1403Ser) c.10879G>T (p.Ala3627Ser) c.10765G>T (p.Ala3589Ser) c.10735G>T (p.Ala3579Ser) c.10798G>T (p.Ala3600Ser) c.10528G>T (p.Ala3510Ser) c.4288G>T (p.Ala1430Ser) c.4333G>T (p.Ala1445Ser) c.4492G>T (p.Ala1498Ser) c.4564G>T (p.Ala1522Ser) c.4024G>T (p.Ala1342Ser) c.4351G>T (p.Ala1451Ser) c.7162G>T (p.Ala2388Ser) c.907G>T (p.Ala303Ser) c.4372G>T (p.Ala1458Ser) | |
4 | g.113363344C>A | CA357941176 | ANK2 | c.10904C>A (p.Ala3635Glu) c.4589C>A (p.Ala1530Glu) c.1190C>A (p.Ala397Glu) c.1688C>A (p.Ala563Glu) n.2145C>A n.1353C>A n.2097C>A n.926C>A n.3521C>A n.2888C>A n.1262C>A n.7608C>A n.2234C>A n.2652C>A c.10763C>A (p.Ala3588Glu) c.10601C>A (p.Ala3534Glu) c.1895C>A (p.Ala632Glu) c.218C>A (p.Ala73Glu) c.4322C>A (p.Ala1441Glu) c.4409C>A (p.Ala1470Glu) c.4346C>A (p.Ala1449Glu) c.4544C>A (p.Ala1515Glu) c.4445C>A (p.Ala1482Glu) c.10637C>A (p.Ala3546Glu) c.4247C>A (p.Ala1416Glu) c.*1C>A (n.*1C>A) c.10580C>A (p.Ala3527Glu) c.4124C>A (p.Ala1375Glu) c.10577C>A (p.Ala3526Glu) c.4223C>A (p.Ala1408Glu) c.10808C>A (p.Ala3603Glu) c.4358C>A (p.Ala1453Glu) c.4343C>A (p.Ala1448Glu) c.10844C>A (p.Ala3615Glu) c.4331C>A (p.Ala1444Glu) c.10565C>A (p.Ala3522Glu) c.4283C>A (p.Ala1428Glu) c.4481C>A (p.Ala1494Glu) c.2072C>A (p.Ala691Glu) c.10664C>A (p.Ala3555Glu) c.4553C>A (p.Ala1518Glu) c.10700C>A (p.Ala3567Glu) c.4310C>A (p.Ala1437Glu) c.10502C>A (p.Ala3501Glu) c.4382C>A (p.Ala1461Glu) c.3926C>A (p.Ala1309Glu) c.2057C>A (p.Ala686Glu) c.10478C>A (p.Ala3493Glu) c.2036C>A (p.Ala679Glu) c.10709C>A (p.Ala3570Glu) c.4274C>A (p.Ala1425Glu) c.4016C>A (p.Ala1339Glu) c.10538C>A (p.Ala3513Glu) c.4508C>A (p.Ala1503Glu) c.465C>A c.1793C>A (p.Ala598Glu) n.617C>A c.464C>A (p.Ala155Glu) c.1512C>A c.*2124C>A (n.*2124C>A) c.10796C>A (p.Ala3599Glu) c.4505C>A (p.Ala1502Glu) c.10850C>A (p.Ala3617Glu) c.10814C>A (p.Ala3605Glu) c.4562C>A (p.Ala1521Glu) c.4595C>A (p.Ala1532Glu) c.4526C>A (p.Ala1509Glu) c.10790C>A (p.Ala3597Glu) c.10835C>A (p.Ala3612Glu) c.4520C>A (p.Ala1507Glu) c.4487C>A (p.Ala1496Glu) c.4550C>A (p.Ala1517Glu) c.4406C>A (p.Ala1469Glu) c.4586C>A (p.Ala1529Glu) c.4478C>A (p.Ala1493Glu) c.4442C>A (p.Ala1481Glu) c.4457C>A (p.Ala1486Glu) c.4367C>A (p.Ala1456Glu) c.4295C>A (p.Ala1432Glu) c.4379C>A (p.Ala1460Glu) c.4208C>A (p.Ala1403Glu) c.10880C>A (p.Ala3627Glu) c.10766C>A (p.Ala3589Glu) c.10736C>A (p.Ala3579Glu) c.10799C>A (p.Ala3600Glu) c.10529C>A (p.Ala3510Glu) c.4289C>A (p.Ala1430Glu) c.4334C>A (p.Ala1445Glu) c.4493C>A (p.Ala1498Glu) c.4565C>A (p.Ala1522Glu) c.4025C>A (p.Ala1342Glu) c.4352C>A (p.Ala1451Glu) c.7163C>A (p.Ala2388Glu) c.908C>A (p.Ala303Glu) c.4373C>A (p.Ala1458Glu) | |
4 | g.113363344C>G | CA357941177 | ANK2 | c.10904C>G (p.Ala3635Gly) c.4589C>G (p.Ala1530Gly) c.1190C>G (p.Ala397Gly) c.1688C>G (p.Ala563Gly) n.2145C>G n.1353C>G n.2097C>G n.926C>G n.3521C>G n.2888C>G n.1262C>G n.7608C>G n.2234C>G n.2652C>G c.10763C>G (p.Ala3588Gly) c.10601C>G (p.Ala3534Gly) c.1895C>G (p.Ala632Gly) c.218C>G (p.Ala73Gly) c.4322C>G (p.Ala1441Gly) c.4409C>G (p.Ala1470Gly) c.4346C>G (p.Ala1449Gly) c.4544C>G (p.Ala1515Gly) c.4445C>G (p.Ala1482Gly) c.10637C>G (p.Ala3546Gly) c.4247C>G (p.Ala1416Gly) c.*1C>G (n.*1C>G) c.10580C>G (p.Ala3527Gly) c.4124C>G (p.Ala1375Gly) c.10577C>G (p.Ala3526Gly) c.4223C>G (p.Ala1408Gly) c.10808C>G (p.Ala3603Gly) c.4358C>G (p.Ala1453Gly) c.4343C>G (p.Ala1448Gly) c.10844C>G (p.Ala3615Gly) c.4331C>G (p.Ala1444Gly) c.10565C>G (p.Ala3522Gly) c.4283C>G (p.Ala1428Gly) c.4481C>G (p.Ala1494Gly) c.2072C>G (p.Ala691Gly) c.10664C>G (p.Ala3555Gly) c.4553C>G (p.Ala1518Gly) c.10700C>G (p.Ala3567Gly) c.4310C>G (p.Ala1437Gly) c.10502C>G (p.Ala3501Gly) c.4382C>G (p.Ala1461Gly) c.3926C>G (p.Ala1309Gly) c.2057C>G (p.Ala686Gly) c.10478C>G (p.Ala3493Gly) c.2036C>G (p.Ala679Gly) c.10709C>G (p.Ala3570Gly) c.4274C>G (p.Ala1425Gly) c.4016C>G (p.Ala1339Gly) c.10538C>G (p.Ala3513Gly) c.4508C>G (p.Ala1503Gly) c.465C>G c.1793C>G (p.Ala598Gly) n.617C>G c.464C>G (p.Ala155Gly) c.1512C>G c.*2124C>G (n.*2124C>G) c.10796C>G (p.Ala3599Gly) c.4505C>G (p.Ala1502Gly) c.10850C>G (p.Ala3617Gly) c.10814C>G (p.Ala3605Gly) c.4562C>G (p.Ala1521Gly) c.4595C>G (p.Ala1532Gly) c.4526C>G (p.Ala1509Gly) c.10790C>G (p.Ala3597Gly) c.10835C>G (p.Ala3612Gly) c.4520C>G (p.Ala1507Gly) c.4487C>G (p.Ala1496Gly) c.4550C>G (p.Ala1517Gly) c.4406C>G (p.Ala1469Gly) c.4586C>G (p.Ala1529Gly) c.4478C>G (p.Ala1493Gly) c.4442C>G (p.Ala1481Gly) c.4457C>G (p.Ala1486Gly) c.4367C>G (p.Ala1456Gly) c.4295C>G (p.Ala1432Gly) c.4379C>G (p.Ala1460Gly) c.4208C>G (p.Ala1403Gly) c.10880C>G (p.Ala3627Gly) c.10766C>G (p.Ala3589Gly) c.10736C>G (p.Ala3579Gly) c.10799C>G (p.Ala3600Gly) c.10529C>G (p.Ala3510Gly) c.4289C>G (p.Ala1430Gly) c.4334C>G (p.Ala1445Gly) c.4493C>G (p.Ala1498Gly) c.4565C>G (p.Ala1522Gly) c.4025C>G (p.Ala1342Gly) c.4352C>G (p.Ala1451Gly) c.7163C>G (p.Ala2388Gly) c.908C>G (p.Ala303Gly) c.4373C>G (p.Ala1458Gly) | gnomAD v4 |
4 | g.113363344C>T | CA357941178 | ANK2 | c.10904C>T (p.Ala3635Val) c.4589C>T (p.Ala1530Val) c.1190C>T (p.Ala397Val) c.1688C>T (p.Ala563Val) n.2145C>T n.1353C>T n.2097C>T n.926C>T n.3521C>T n.2888C>T n.1262C>T n.7608C>T n.2234C>T n.2652C>T c.10763C>T (p.Ala3588Val) c.10601C>T (p.Ala3534Val) c.1895C>T (p.Ala632Val) c.218C>T (p.Ala73Val) c.4322C>T (p.Ala1441Val) c.4409C>T (p.Ala1470Val) c.4346C>T (p.Ala1449Val) c.4544C>T (p.Ala1515Val) c.4445C>T (p.Ala1482Val) c.10637C>T (p.Ala3546Val) c.4247C>T (p.Ala1416Val) c.*1C>T (n.*1C>T) c.10580C>T (p.Ala3527Val) c.4124C>T (p.Ala1375Val) c.10577C>T (p.Ala3526Val) c.4223C>T (p.Ala1408Val) c.10808C>T (p.Ala3603Val) c.4358C>T (p.Ala1453Val) c.4343C>T (p.Ala1448Val) c.10844C>T (p.Ala3615Val) c.4331C>T (p.Ala1444Val) c.10565C>T (p.Ala3522Val) c.4283C>T (p.Ala1428Val) c.4481C>T (p.Ala1494Val) c.2072C>T (p.Ala691Val) c.10664C>T (p.Ala3555Val) c.4553C>T (p.Ala1518Val) c.10700C>T (p.Ala3567Val) c.4310C>T (p.Ala1437Val) c.10502C>T (p.Ala3501Val) c.4382C>T (p.Ala1461Val) c.3926C>T (p.Ala1309Val) c.2057C>T (p.Ala686Val) c.10478C>T (p.Ala3493Val) c.2036C>T (p.Ala679Val) c.10709C>T (p.Ala3570Val) c.4274C>T (p.Ala1425Val) c.4016C>T (p.Ala1339Val) c.10538C>T (p.Ala3513Val) c.4508C>T (p.Ala1503Val) c.465C>T c.1793C>T (p.Ala598Val) n.617C>T c.464C>T (p.Ala155Val) c.1512C>T c.*2124C>T (n.*2124C>T) c.10796C>T (p.Ala3599Val) c.4505C>T (p.Ala1502Val) c.10850C>T (p.Ala3617Val) c.10814C>T (p.Ala3605Val) c.4562C>T (p.Ala1521Val) c.4595C>T (p.Ala1532Val) c.4526C>T (p.Ala1509Val) c.10790C>T (p.Ala3597Val) c.10835C>T (p.Ala3612Val) c.4520C>T (p.Ala1507Val) c.4487C>T (p.Ala1496Val) c.4550C>T (p.Ala1517Val) c.4406C>T (p.Ala1469Val) c.4586C>T (p.Ala1529Val) c.4478C>T (p.Ala1493Val) c.4442C>T (p.Ala1481Val) c.4457C>T (p.Ala1486Val) c.4367C>T (p.Ala1456Val) c.4295C>T (p.Ala1432Val) c.4379C>T (p.Ala1460Val) c.4208C>T (p.Ala1403Val) c.10880C>T (p.Ala3627Val) c.10766C>T (p.Ala3589Val) c.10736C>T (p.Ala3579Val) c.10799C>T (p.Ala3600Val) c.10529C>T (p.Ala3510Val) c.4289C>T (p.Ala1430Val) c.4334C>T (p.Ala1445Val) c.4493C>T (p.Ala1498Val) c.4565C>T (p.Ala1522Val) c.4025C>T (p.Ala1342Val) c.4352C>T (p.Ala1451Val) c.7163C>T (p.Ala2388Val) c.908C>T (p.Ala303Val) c.4373C>T (p.Ala1458Val) | dbSNP |
4 | g.113363345A>C | CA440828892 | ANK2 | c.10905A>C (p.Ala3635=) c.4590A>C (p.Ala1530=) c.1191A>C (p.Ala397=) c.1689A>C (p.Ala563=) n.2146A>C n.1354A>C n.2098A>C n.927A>C n.3522A>C n.2889A>C n.1263A>C n.7609A>C n.2235A>C n.2653A>C c.10764A>C (p.Ala3588=) c.10602A>C (p.Ala3534=) c.1896A>C (p.Ala632=) c.219A>C (p.Ala73=) c.4323A>C (p.Ala1441=) c.4410A>C (p.Ala1470=) c.4347A>C (p.Ala1449=) c.4545A>C (p.Ala1515=) c.4446A>C (p.Ala1482=) c.10638A>C (p.Ala3546=) c.4248A>C (p.Ala1416=) c.*2A>C (n.*2A>C) c.10581A>C (p.Ala3527=) c.4125A>C (p.Ala1375=) c.10578A>C (p.Ala3526=) c.4224A>C (p.Ala1408=) c.10809A>C (p.Ala3603=) c.4359A>C (p.Ala1453=) c.4344A>C (p.Ala1448=) c.10845A>C (p.Ala3615=) c.4332A>C (p.Ala1444=) c.10566A>C (p.Ala3522=) c.4284A>C (p.Ala1428=) c.4482A>C (p.Ala1494=) c.2073A>C (p.Ala691=) c.10665A>C (p.Ala3555=) c.4554A>C (p.Ala1518=) c.10701A>C (p.Ala3567=) c.4311A>C (p.Ala1437=) c.10503A>C (p.Ala3501=) c.4383A>C (p.Ala1461=) c.3927A>C (p.Ala1309=) c.2058A>C (p.Ala686=) c.10479A>C (p.Ala3493=) c.2037A>C (p.Ala679=) c.10710A>C (p.Ala3570=) c.4275A>C (p.Ala1425=) c.4017A>C (p.Ala1339=) c.10539A>C (p.Ala3513=) c.4509A>C (p.Ala1503=) c.466A>C c.1794A>C (p.Ala598=) n.618A>C c.465A>C (p.Ala155=) c.1513A>C c.*2125A>C (n.*2125A>C) c.10797A>C (p.Ala3599=) c.4506A>C (p.Ala1502=) c.10851A>C (p.Ala3617=) c.10815A>C (p.Ala3605=) c.4563A>C (p.Ala1521=) c.4596A>C (p.Ala1532=) c.4527A>C (p.Ala1509=) c.10791A>C (p.Ala3597=) c.10836A>C (p.Ala3612=) c.4521A>C (p.Ala1507=) c.4488A>C (p.Ala1496=) c.4551A>C (p.Ala1517=) c.4407A>C (p.Ala1469=) c.4587A>C (p.Ala1529=) c.4479A>C (p.Ala1493=) c.4443A>C (p.Ala1481=) c.4458A>C (p.Ala1486=) c.4368A>C (p.Ala1456=) c.4296A>C (p.Ala1432=) c.4380A>C (p.Ala1460=) c.4209A>C (p.Ala1403=) c.10881A>C (p.Ala3627=) c.10767A>C (p.Ala3589=) c.10737A>C (p.Ala3579=) c.10800A>C (p.Ala3600=) c.10530A>C (p.Ala3510=) c.4290A>C (p.Ala1430=) c.4335A>C (p.Ala1445=) c.4494A>C (p.Ala1498=) c.4566A>C (p.Ala1522=) c.4026A>C (p.Ala1342=) c.4353A>C (p.Ala1451=) c.7164A>C (p.Ala2388=) c.909A>C (p.Ala303=) c.4374A>C (p.Ala1458=) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.113363345A>G | CA440828893 | ANK2 | c.10905A>G (p.Ala3635=) c.4590A>G (p.Ala1530=) c.1191A>G (p.Ala397=) c.1689A>G (p.Ala563=) n.2146A>G n.1354A>G n.2098A>G n.927A>G n.3522A>G n.2889A>G n.1263A>G n.7609A>G n.2235A>G n.2653A>G c.10764A>G (p.Ala3588=) c.10602A>G (p.Ala3534=) c.1896A>G (p.Ala632=) c.219A>G (p.Ala73=) c.4323A>G (p.Ala1441=) c.4410A>G (p.Ala1470=) c.4347A>G (p.Ala1449=) c.4545A>G (p.Ala1515=) c.4446A>G (p.Ala1482=) c.10638A>G (p.Ala3546=) c.4248A>G (p.Ala1416=) c.*2A>G (n.*2A>G) c.10581A>G (p.Ala3527=) c.4125A>G (p.Ala1375=) c.10578A>G (p.Ala3526=) c.4224A>G (p.Ala1408=) c.10809A>G (p.Ala3603=) c.4359A>G (p.Ala1453=) c.4344A>G (p.Ala1448=) c.10845A>G (p.Ala3615=) c.4332A>G (p.Ala1444=) c.10566A>G (p.Ala3522=) c.4284A>G (p.Ala1428=) c.4482A>G (p.Ala1494=) c.2073A>G (p.Ala691=) c.10665A>G (p.Ala3555=) c.4554A>G (p.Ala1518=) c.10701A>G (p.Ala3567=) c.4311A>G (p.Ala1437=) c.10503A>G (p.Ala3501=) c.4383A>G (p.Ala1461=) c.3927A>G (p.Ala1309=) c.2058A>G (p.Ala686=) c.10479A>G (p.Ala3493=) c.2037A>G (p.Ala679=) c.10710A>G (p.Ala3570=) c.4275A>G (p.Ala1425=) c.4017A>G (p.Ala1339=) c.10539A>G (p.Ala3513=) c.4509A>G (p.Ala1503=) c.466A>G c.1794A>G (p.Ala598=) n.618A>G c.465A>G (p.Ala155=) c.1513A>G c.*2125A>G (n.*2125A>G) c.10797A>G (p.Ala3599=) c.4506A>G (p.Ala1502=) c.10851A>G (p.Ala3617=) c.10815A>G (p.Ala3605=) c.4563A>G (p.Ala1521=) c.4596A>G (p.Ala1532=) c.4527A>G (p.Ala1509=) c.10791A>G (p.Ala3597=) c.10836A>G (p.Ala3612=) c.4521A>G (p.Ala1507=) c.4488A>G (p.Ala1496=) c.4551A>G (p.Ala1517=) c.4407A>G (p.Ala1469=) c.4587A>G (p.Ala1529=) c.4479A>G (p.Ala1493=) c.4443A>G (p.Ala1481=) c.4458A>G (p.Ala1486=) c.4368A>G (p.Ala1456=) c.4296A>G (p.Ala1432=) c.4380A>G (p.Ala1460=) c.4209A>G (p.Ala1403=) c.10881A>G (p.Ala3627=) c.10767A>G (p.Ala3589=) c.10737A>G (p.Ala3579=) c.10800A>G (p.Ala3600=) c.10530A>G (p.Ala3510=) c.4290A>G (p.Ala1430=) c.4335A>G (p.Ala1445=) c.4494A>G (p.Ala1498=) c.4566A>G (p.Ala1522=) c.4026A>G (p.Ala1342=) c.4353A>G (p.Ala1451=) c.7164A>G (p.Ala2388=) c.909A>G (p.Ala303=) c.4374A>G (p.Ala1458=) | gnomAD v4 |
4 | g.113363345A>T | CA440828894 | ANK2 | c.10905A>T (p.Ala3635=) c.4590A>T (p.Ala1530=) c.1191A>T (p.Ala397=) c.1689A>T (p.Ala563=) n.2146A>T n.1354A>T n.2098A>T n.927A>T n.3522A>T n.2889A>T n.1263A>T n.7609A>T n.2235A>T n.2653A>T c.10764A>T (p.Ala3588=) c.10602A>T (p.Ala3534=) c.1896A>T (p.Ala632=) c.219A>T (p.Ala73=) c.4323A>T (p.Ala1441=) c.4410A>T (p.Ala1470=) c.4347A>T (p.Ala1449=) c.4545A>T (p.Ala1515=) c.4446A>T (p.Ala1482=) c.10638A>T (p.Ala3546=) c.4248A>T (p.Ala1416=) c.*2A>T (n.*2A>T) c.10581A>T (p.Ala3527=) c.4125A>T (p.Ala1375=) c.10578A>T (p.Ala3526=) c.4224A>T (p.Ala1408=) c.10809A>T (p.Ala3603=) c.4359A>T (p.Ala1453=) c.4344A>T (p.Ala1448=) c.10845A>T (p.Ala3615=) c.4332A>T (p.Ala1444=) c.10566A>T (p.Ala3522=) c.4284A>T (p.Ala1428=) c.4482A>T (p.Ala1494=) c.2073A>T (p.Ala691=) c.10665A>T (p.Ala3555=) c.4554A>T (p.Ala1518=) c.10701A>T (p.Ala3567=) c.4311A>T (p.Ala1437=) c.10503A>T (p.Ala3501=) c.4383A>T (p.Ala1461=) c.3927A>T (p.Ala1309=) c.2058A>T (p.Ala686=) c.10479A>T (p.Ala3493=) c.2037A>T (p.Ala679=) c.10710A>T (p.Ala3570=) c.4275A>T (p.Ala1425=) c.4017A>T (p.Ala1339=) c.10539A>T (p.Ala3513=) c.4509A>T (p.Ala1503=) c.466A>T c.1794A>T (p.Ala598=) n.618A>T c.465A>T (p.Ala155=) c.1513A>T c.*2125A>T (n.*2125A>T) c.10797A>T (p.Ala3599=) c.4506A>T (p.Ala1502=) c.10851A>T (p.Ala3617=) c.10815A>T (p.Ala3605=) c.4563A>T (p.Ala1521=) c.4596A>T (p.Ala1532=) c.4527A>T (p.Ala1509=) c.10791A>T (p.Ala3597=) c.10836A>T (p.Ala3612=) c.4521A>T (p.Ala1507=) c.4488A>T (p.Ala1496=) c.4551A>T (p.Ala1517=) c.4407A>T (p.Ala1469=) c.4587A>T (p.Ala1529=) c.4479A>T (p.Ala1493=) c.4443A>T (p.Ala1481=) c.4458A>T (p.Ala1486=) c.4368A>T (p.Ala1456=) c.4296A>T (p.Ala1432=) c.4380A>T (p.Ala1460=) c.4209A>T (p.Ala1403=) c.10881A>T (p.Ala3627=) c.10767A>T (p.Ala3589=) c.10737A>T (p.Ala3579=) c.10800A>T (p.Ala3600=) c.10530A>T (p.Ala3510=) c.4290A>T (p.Ala1430=) c.4335A>T (p.Ala1445=) c.4494A>T (p.Ala1498=) c.4566A>T (p.Ala1522=) c.4026A>T (p.Ala1342=) c.4353A>T (p.Ala1451=) c.7164A>T (p.Ala2388=) c.909A>T (p.Ala303=) c.4374A>T (p.Ala1458=) | |
4 | g.113363346A>C | CA440828895 | ANK2 | c.10906A>C (p.Arg3636=) c.4591A>C (p.Arg1531=) c.1192A>C (p.Arg398=) c.1690A>C (p.Arg564=) n.2147A>C n.1355A>C n.2099A>C n.928A>C n.3523A>C n.2890A>C n.1264A>C n.7610A>C n.2236A>C n.2654A>C c.10765A>C (p.Arg3589=) c.10603A>C (p.Arg3535=) c.1897A>C (p.Arg633=) c.220A>C (p.Arg74=) c.4324A>C (p.Arg1442=) c.4411A>C (p.Arg1471=) c.4348A>C (p.Arg1450=) c.4546A>C (p.Arg1516=) c.4447A>C (p.Arg1483=) c.10639A>C (p.Arg3547=) c.4249A>C (p.Arg1417=) c.*3A>C (n.*3A>C) c.10582A>C (p.Arg3528=) c.4126A>C (p.Arg1376=) c.10579A>C (p.Arg3527=) c.4225A>C (p.Arg1409=) c.10810A>C (p.Arg3604=) c.4360A>C (p.Arg1454=) c.4345A>C (p.Arg1449=) c.10846A>C (p.Arg3616=) c.4333A>C (p.Arg1445=) c.10567A>C (p.Arg3523=) c.4285A>C (p.Arg1429=) c.4483A>C (p.Arg1495=) c.2074A>C (p.Arg692=) c.10666A>C (p.Arg3556=) c.4555A>C (p.Arg1519=) c.10702A>C (p.Arg3568=) c.4312A>C (p.Arg1438=) c.10504A>C (p.Arg3502=) c.4384A>C (p.Arg1462=) c.3928A>C (p.Arg1310=) c.2059A>C (p.Arg687=) c.10480A>C (p.Arg3494=) c.2038A>C (p.Arg680=) c.10711A>C (p.Arg3571=) c.4276A>C (p.Arg1426=) c.4018A>C (p.Arg1340=) c.10540A>C (p.Arg3514=) c.4510A>C (p.Arg1504=) c.467A>C c.1795A>C (p.Arg599=) n.619A>C c.466A>C (p.Arg156=) c.1514A>C c.*2126A>C (n.*2126A>C) c.10798A>C (p.Arg3600=) c.4507A>C (p.Arg1503=) c.10852A>C (p.Arg3618=) c.10816A>C (p.Arg3606=) c.4564A>C (p.Arg1522=) c.4597A>C (p.Arg1533=) c.4528A>C (p.Arg1510=) c.10792A>C (p.Arg3598=) c.10837A>C (p.Arg3613=) c.4522A>C (p.Arg1508=) c.4489A>C (p.Arg1497=) c.4552A>C (p.Arg1518=) c.4408A>C (p.Arg1470=) c.4588A>C (p.Arg1530=) c.4480A>C (p.Arg1494=) c.4444A>C (p.Arg1482=) c.4459A>C (p.Arg1487=) c.4369A>C (p.Arg1457=) c.4297A>C (p.Arg1433=) c.4381A>C (p.Arg1461=) c.4210A>C (p.Arg1404=) c.10882A>C (p.Arg3628=) c.10768A>C (p.Arg3590=) c.10738A>C (p.Arg3580=) c.10801A>C (p.Arg3601=) c.10531A>C (p.Arg3511=) c.4291A>C (p.Arg1431=) c.4336A>C (p.Arg1446=) c.4495A>C (p.Arg1499=) c.4567A>C (p.Arg1523=) c.4027A>C (p.Arg1343=) c.4354A>C (p.Arg1452=) c.7165A>C (p.Arg2389=) c.910A>C (p.Arg304=) c.4375A>C (p.Arg1459=) | |
4 | g.113363346A>G | CA357941179 | ANK2 | c.10906A>G (p.Arg3636Gly) c.4591A>G (p.Arg1531Gly) c.1192A>G (p.Arg398Gly) c.1690A>G (p.Arg564Gly) n.2147A>G n.1355A>G n.2099A>G n.928A>G n.3523A>G n.2890A>G n.1264A>G n.7610A>G n.2236A>G n.2654A>G c.10765A>G (p.Arg3589Gly) c.10603A>G (p.Arg3535Gly) c.1897A>G (p.Arg633Gly) c.220A>G (p.Arg74Gly) c.4324A>G (p.Arg1442Gly) c.4411A>G (p.Arg1471Gly) c.4348A>G (p.Arg1450Gly) c.4546A>G (p.Arg1516Gly) c.4447A>G (p.Arg1483Gly) c.10639A>G (p.Arg3547Gly) c.4249A>G (p.Arg1417Gly) c.*3A>G (n.*3A>G) c.10582A>G (p.Arg3528Gly) c.4126A>G (p.Arg1376Gly) c.10579A>G (p.Arg3527Gly) c.4225A>G (p.Arg1409Gly) c.10810A>G (p.Arg3604Gly) c.4360A>G (p.Arg1454Gly) c.4345A>G (p.Arg1449Gly) c.10846A>G (p.Arg3616Gly) c.4333A>G (p.Arg1445Gly) c.10567A>G (p.Arg3523Gly) c.4285A>G (p.Arg1429Gly) c.4483A>G (p.Arg1495Gly) c.2074A>G (p.Arg692Gly) c.10666A>G (p.Arg3556Gly) c.4555A>G (p.Arg1519Gly) c.10702A>G (p.Arg3568Gly) c.4312A>G (p.Arg1438Gly) c.10504A>G (p.Arg3502Gly) c.4384A>G (p.Arg1462Gly) c.3928A>G (p.Arg1310Gly) c.2059A>G (p.Arg687Gly) c.10480A>G (p.Arg3494Gly) c.2038A>G (p.Arg680Gly) c.10711A>G (p.Arg3571Gly) c.4276A>G (p.Arg1426Gly) c.4018A>G (p.Arg1340Gly) c.10540A>G (p.Arg3514Gly) c.4510A>G (p.Arg1504Gly) c.467A>G c.1795A>G (p.Arg599Gly) n.619A>G c.466A>G (p.Arg156Gly) c.1514A>G c.*2126A>G (n.*2126A>G) c.10798A>G (p.Arg3600Gly) c.4507A>G (p.Arg1503Gly) c.10852A>G (p.Arg3618Gly) c.10816A>G (p.Arg3606Gly) c.4564A>G (p.Arg1522Gly) c.4597A>G (p.Arg1533Gly) c.4528A>G (p.Arg1510Gly) c.10792A>G (p.Arg3598Gly) c.10837A>G (p.Arg3613Gly) c.4522A>G (p.Arg1508Gly) c.4489A>G (p.Arg1497Gly) c.4552A>G (p.Arg1518Gly) c.4408A>G (p.Arg1470Gly) c.4588A>G (p.Arg1530Gly) c.4480A>G (p.Arg1494Gly) c.4444A>G (p.Arg1482Gly) c.4459A>G (p.Arg1487Gly) c.4369A>G (p.Arg1457Gly) c.4297A>G (p.Arg1433Gly) c.4381A>G (p.Arg1461Gly) c.4210A>G (p.Arg1404Gly) c.10882A>G (p.Arg3628Gly) c.10768A>G (p.Arg3590Gly) c.10738A>G (p.Arg3580Gly) c.10801A>G (p.Arg3601Gly) c.10531A>G (p.Arg3511Gly) c.4291A>G (p.Arg1431Gly) c.4336A>G (p.Arg1446Gly) c.4495A>G (p.Arg1499Gly) c.4567A>G (p.Arg1523Gly) c.4027A>G (p.Arg1343Gly) c.4354A>G (p.Arg1452Gly) c.7165A>G (p.Arg2389Gly) c.910A>G (p.Arg304Gly) c.4375A>G (p.Arg1459Gly) | |
4 | g.113363346A>T | CA357941180 | ANK2 | c.10906A>T (p.Arg3636Ter) c.4591A>T (p.Arg1531Ter) c.1192A>T (p.Arg398Ter) c.1690A>T (p.Arg564Ter) n.2147A>T n.1355A>T n.2099A>T n.928A>T n.3523A>T n.2890A>T n.1264A>T n.7610A>T n.2236A>T n.2654A>T c.10765A>T (p.Arg3589Ter) c.10603A>T (p.Arg3535Ter) c.1897A>T (p.Arg633Ter) c.220A>T (p.Arg74Ter) c.4324A>T (p.Arg1442Ter) c.4411A>T (p.Arg1471Ter) c.4348A>T (p.Arg1450Ter) c.4546A>T (p.Arg1516Ter) c.4447A>T (p.Arg1483Ter) c.10639A>T (p.Arg3547Ter) c.4249A>T (p.Arg1417Ter) c.*3A>T (n.*3A>T) c.10582A>T (p.Arg3528Ter) c.4126A>T (p.Arg1376Ter) c.10579A>T (p.Arg3527Ter) c.4225A>T (p.Arg1409Ter) c.10810A>T (p.Arg3604Ter) c.4360A>T (p.Arg1454Ter) c.4345A>T (p.Arg1449Ter) c.10846A>T (p.Arg3616Ter) c.4333A>T (p.Arg1445Ter) c.10567A>T (p.Arg3523Ter) c.4285A>T (p.Arg1429Ter) c.4483A>T (p.Arg1495Ter) c.2074A>T (p.Arg692Ter) c.10666A>T (p.Arg3556Ter) c.4555A>T (p.Arg1519Ter) c.10702A>T (p.Arg3568Ter) c.4312A>T (p.Arg1438Ter) c.10504A>T (p.Arg3502Ter) c.4384A>T (p.Arg1462Ter) c.3928A>T (p.Arg1310Ter) c.2059A>T (p.Arg687Ter) c.10480A>T (p.Arg3494Ter) c.2038A>T (p.Arg680Ter) c.10711A>T (p.Arg3571Ter) c.4276A>T (p.Arg1426Ter) c.4018A>T (p.Arg1340Ter) c.10540A>T (p.Arg3514Ter) c.4510A>T (p.Arg1504Ter) c.467A>T c.1795A>T (p.Arg599Ter) n.619A>T c.466A>T (p.Arg156Ter) c.1514A>T c.*2126A>T (n.*2126A>T) c.10798A>T (p.Arg3600Ter) c.4507A>T (p.Arg1503Ter) c.10852A>T (p.Arg3618Ter) c.10816A>T (p.Arg3606Ter) c.4564A>T (p.Arg1522Ter) c.4597A>T (p.Arg1533Ter) c.4528A>T (p.Arg1510Ter) c.10792A>T (p.Arg3598Ter) c.10837A>T (p.Arg3613Ter) c.4522A>T (p.Arg1508Ter) c.4489A>T (p.Arg1497Ter) c.4552A>T (p.Arg1518Ter) c.4408A>T (p.Arg1470Ter) c.4588A>T (p.Arg1530Ter) c.4480A>T (p.Arg1494Ter) c.4444A>T (p.Arg1482Ter) c.4459A>T (p.Arg1487Ter) c.4369A>T (p.Arg1457Ter) c.4297A>T (p.Arg1433Ter) c.4381A>T (p.Arg1461Ter) c.4210A>T (p.Arg1404Ter) c.10882A>T (p.Arg3628Ter) c.10768A>T (p.Arg3590Ter) c.10738A>T (p.Arg3580Ter) c.10801A>T (p.Arg3601Ter) c.10531A>T (p.Arg3511Ter) c.4291A>T (p.Arg1431Ter) c.4336A>T (p.Arg1446Ter) c.4495A>T (p.Arg1499Ter) c.4567A>T (p.Arg1523Ter) c.4027A>T (p.Arg1343Ter) c.4354A>T (p.Arg1452Ter) c.7165A>T (p.Arg2389Ter) c.910A>T (p.Arg304Ter) c.4375A>T (p.Arg1459Ter) | |
4 | g.113363347G>A | CA3052134 | ANK2 | c.10907G>A (p.Arg3636Lys) c.4592G>A (p.Arg1531Lys) c.1193G>A (p.Arg398Lys) c.1691G>A (p.Arg564Lys) n.2148G>A n.1356G>A n.2100G>A n.929G>A n.3524G>A n.2891G>A n.1265G>A n.7611G>A n.2237G>A n.2655G>A c.10766G>A (p.Arg3589Lys) c.10604G>A (p.Arg3535Lys) c.1898G>A (p.Arg633Lys) c.221G>A (p.Arg74Lys) c.4325G>A (p.Arg1442Lys) c.4412G>A (p.Arg1471Lys) c.4349G>A (p.Arg1450Lys) c.4547G>A (p.Arg1516Lys) c.4448G>A (p.Arg1483Lys) c.10640G>A (p.Arg3547Lys) c.4250G>A (p.Arg1417Lys) c.*4G>A (n.*4G>A) c.10583G>A (p.Arg3528Lys) c.4127G>A (p.Arg1376Lys) c.10580G>A (p.Arg3527Lys) c.4226G>A (p.Arg1409Lys) c.10811G>A (p.Arg3604Lys) c.4361G>A (p.Arg1454Lys) c.4346G>A (p.Arg1449Lys) c.10847G>A (p.Arg3616Lys) c.4334G>A (p.Arg1445Lys) c.10568G>A (p.Arg3523Lys) c.4286G>A (p.Arg1429Lys) c.4484G>A (p.Arg1495Lys) c.2075G>A (p.Arg692Lys) c.10667G>A (p.Arg3556Lys) c.4556G>A (p.Arg1519Lys) c.10703G>A (p.Arg3568Lys) c.4313G>A (p.Arg1438Lys) c.10505G>A (p.Arg3502Lys) c.4385G>A (p.Arg1462Lys) c.3929G>A (p.Arg1310Lys) c.2060G>A (p.Arg687Lys) c.10481G>A (p.Arg3494Lys) c.2039G>A (p.Arg680Lys) c.10712G>A (p.Arg3571Lys) c.4277G>A (p.Arg1426Lys) c.4019G>A (p.Arg1340Lys) c.10541G>A (p.Arg3514Lys) c.4511G>A (p.Arg1504Lys) c.468G>A c.1796G>A (p.Arg599Lys) n.620G>A c.467G>A (p.Arg156Lys) c.1515G>A c.*2127G>A (n.*2127G>A) c.10799G>A (p.Arg3600Lys) c.4508G>A (p.Arg1503Lys) c.10853G>A (p.Arg3618Lys) c.10817G>A (p.Arg3606Lys) c.4565G>A (p.Arg1522Lys) c.4598G>A (p.Arg1533Lys) c.4529G>A (p.Arg1510Lys) c.10793G>A (p.Arg3598Lys) c.10838G>A (p.Arg3613Lys) c.4523G>A (p.Arg1508Lys) c.4490G>A (p.Arg1497Lys) c.4553G>A (p.Arg1518Lys) c.4409G>A (p.Arg1470Lys) c.4589G>A (p.Arg1530Lys) c.4481G>A (p.Arg1494Lys) c.4445G>A (p.Arg1482Lys) c.4460G>A (p.Arg1487Lys) c.4370G>A (p.Arg1457Lys) c.4298G>A (p.Arg1433Lys) c.4382G>A (p.Arg1461Lys) c.4211G>A (p.Arg1404Lys) c.10883G>A (p.Arg3628Lys) c.10769G>A (p.Arg3590Lys) c.10739G>A (p.Arg3580Lys) c.10802G>A (p.Arg3601Lys) c.10532G>A (p.Arg3511Lys) c.4292G>A (p.Arg1431Lys) c.4337G>A (p.Arg1446Lys) c.4496G>A (p.Arg1499Lys) c.4568G>A (p.Arg1523Lys) c.4028G>A (p.Arg1343Lys) c.4355G>A (p.Arg1452Lys) c.7166G>A (p.Arg2389Lys) c.911G>A (p.Arg304Lys) c.4376G>A (p.Arg1459Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.113363347G>C | CA357941182 | ANK2 | c.10907G>C (p.Arg3636Thr) c.4592G>C (p.Arg1531Thr) c.1193G>C (p.Arg398Thr) c.1691G>C (p.Arg564Thr) n.2148G>C n.1356G>C n.2100G>C n.929G>C n.3524G>C n.2891G>C n.1265G>C n.7611G>C n.2237G>C n.2655G>C c.10766G>C (p.Arg3589Thr) c.10604G>C (p.Arg3535Thr) c.1898G>C (p.Arg633Thr) c.221G>C (p.Arg74Thr) c.4325G>C (p.Arg1442Thr) c.4412G>C (p.Arg1471Thr) c.4349G>C (p.Arg1450Thr) c.4547G>C (p.Arg1516Thr) c.4448G>C (p.Arg1483Thr) c.10640G>C (p.Arg3547Thr) c.4250G>C (p.Arg1417Thr) c.*4G>C (n.*4G>C) c.10583G>C (p.Arg3528Thr) c.4127G>C (p.Arg1376Thr) c.10580G>C (p.Arg3527Thr) c.4226G>C (p.Arg1409Thr) c.10811G>C (p.Arg3604Thr) c.4361G>C (p.Arg1454Thr) c.4346G>C (p.Arg1449Thr) c.10847G>C (p.Arg3616Thr) c.4334G>C (p.Arg1445Thr) c.10568G>C (p.Arg3523Thr) c.4286G>C (p.Arg1429Thr) c.4484G>C (p.Arg1495Thr) c.2075G>C (p.Arg692Thr) c.10667G>C (p.Arg3556Thr) c.4556G>C (p.Arg1519Thr) c.10703G>C (p.Arg3568Thr) c.4313G>C (p.Arg1438Thr) c.10505G>C (p.Arg3502Thr) c.4385G>C (p.Arg1462Thr) c.3929G>C (p.Arg1310Thr) c.2060G>C (p.Arg687Thr) c.10481G>C (p.Arg3494Thr) c.2039G>C (p.Arg680Thr) c.10712G>C (p.Arg3571Thr) c.4277G>C (p.Arg1426Thr) c.4019G>C (p.Arg1340Thr) c.10541G>C (p.Arg3514Thr) c.4511G>C (p.Arg1504Thr) c.468G>C c.1796G>C (p.Arg599Thr) n.620G>C c.467G>C (p.Arg156Thr) c.1515G>C c.*2127G>C (n.*2127G>C) c.10799G>C (p.Arg3600Thr) c.4508G>C (p.Arg1503Thr) c.10853G>C (p.Arg3618Thr) c.10817G>C (p.Arg3606Thr) c.4565G>C (p.Arg1522Thr) c.4598G>C (p.Arg1533Thr) c.4529G>C (p.Arg1510Thr) c.10793G>C (p.Arg3598Thr) c.10838G>C (p.Arg3613Thr) c.4523G>C (p.Arg1508Thr) c.4490G>C (p.Arg1497Thr) c.4553G>C (p.Arg1518Thr) c.4409G>C (p.Arg1470Thr) c.4589G>C (p.Arg1530Thr) c.4481G>C (p.Arg1494Thr) c.4445G>C (p.Arg1482Thr) c.4460G>C (p.Arg1487Thr) c.4370G>C (p.Arg1457Thr) c.4298G>C (p.Arg1433Thr) c.4382G>C (p.Arg1461Thr) c.4211G>C (p.Arg1404Thr) c.10883G>C (p.Arg3628Thr) c.10769G>C (p.Arg3590Thr) c.10739G>C (p.Arg3580Thr) c.10802G>C (p.Arg3601Thr) c.10532G>C (p.Arg3511Thr) c.4292G>C (p.Arg1431Thr) c.4337G>C (p.Arg1446Thr) c.4496G>C (p.Arg1499Thr) c.4568G>C (p.Arg1523Thr) c.4028G>C (p.Arg1343Thr) c.4355G>C (p.Arg1452Thr) c.7166G>C (p.Arg2389Thr) c.911G>C (p.Arg304Thr) c.4376G>C (p.Arg1459Thr) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.113363347G>T | CA357941181 | ANK2 | c.10907G>T (p.Arg3636Ile) c.4592G>T (p.Arg1531Ile) c.1193G>T (p.Arg398Ile) c.1691G>T (p.Arg564Ile) n.2148G>T n.1356G>T n.2100G>T n.929G>T n.3524G>T n.2891G>T n.1265G>T n.7611G>T n.2237G>T n.2655G>T c.10766G>T (p.Arg3589Ile) c.10604G>T (p.Arg3535Ile) c.1898G>T (p.Arg633Ile) c.221G>T (p.Arg74Ile) c.4325G>T (p.Arg1442Ile) c.4412G>T (p.Arg1471Ile) c.4349G>T (p.Arg1450Ile) c.4547G>T (p.Arg1516Ile) c.4448G>T (p.Arg1483Ile) c.10640G>T (p.Arg3547Ile) c.4250G>T (p.Arg1417Ile) c.*4G>T (n.*4G>T) c.10583G>T (p.Arg3528Ile) c.4127G>T (p.Arg1376Ile) c.10580G>T (p.Arg3527Ile) c.4226G>T (p.Arg1409Ile) c.10811G>T (p.Arg3604Ile) c.4361G>T (p.Arg1454Ile) c.4346G>T (p.Arg1449Ile) c.10847G>T (p.Arg3616Ile) c.4334G>T (p.Arg1445Ile) c.10568G>T (p.Arg3523Ile) c.4286G>T (p.Arg1429Ile) c.4484G>T (p.Arg1495Ile) c.2075G>T (p.Arg692Ile) c.10667G>T (p.Arg3556Ile) c.4556G>T (p.Arg1519Ile) c.10703G>T (p.Arg3568Ile) c.4313G>T (p.Arg1438Ile) c.10505G>T (p.Arg3502Ile) c.4385G>T (p.Arg1462Ile) c.3929G>T (p.Arg1310Ile) c.2060G>T (p.Arg687Ile) c.10481G>T (p.Arg3494Ile) c.2039G>T (p.Arg680Ile) c.10712G>T (p.Arg3571Ile) c.4277G>T (p.Arg1426Ile) c.4019G>T (p.Arg1340Ile) c.10541G>T (p.Arg3514Ile) c.4511G>T (p.Arg1504Ile) c.468G>T c.1796G>T (p.Arg599Ile) n.620G>T c.467G>T (p.Arg156Ile) c.1515G>T c.*2127G>T (n.*2127G>T) c.10799G>T (p.Arg3600Ile) c.4508G>T (p.Arg1503Ile) c.10853G>T (p.Arg3618Ile) c.10817G>T (p.Arg3606Ile) c.4565G>T (p.Arg1522Ile) c.4598G>T (p.Arg1533Ile) c.4529G>T (p.Arg1510Ile) c.10793G>T (p.Arg3598Ile) c.10838G>T (p.Arg3613Ile) c.4523G>T (p.Arg1508Ile) c.4490G>T (p.Arg1497Ile) c.4553G>T (p.Arg1518Ile) c.4409G>T (p.Arg1470Ile) c.4589G>T (p.Arg1530Ile) c.4481G>T (p.Arg1494Ile) c.4445G>T (p.Arg1482Ile) c.4460G>T (p.Arg1487Ile) c.4370G>T (p.Arg1457Ile) c.4298G>T (p.Arg1433Ile) c.4382G>T (p.Arg1461Ile) c.4211G>T (p.Arg1404Ile) c.10883G>T (p.Arg3628Ile) c.10769G>T (p.Arg3590Ile) c.10739G>T (p.Arg3580Ile) c.10802G>T (p.Arg3601Ile) c.10532G>T (p.Arg3511Ile) c.4292G>T (p.Arg1431Ile) c.4337G>T (p.Arg1446Ile) c.4496G>T (p.Arg1499Ile) c.4568G>T (p.Arg1523Ile) c.4028G>T (p.Arg1343Ile) c.4355G>T (p.Arg1452Ile) c.7166G>T (p.Arg2389Ile) c.911G>T (p.Arg304Ile) c.4376G>T (p.Arg1459Ile) | |
4 | g.113363348A>C | CA357941183 | ANK2 | c.10908A>C (p.Arg3636Ser) c.4593A>C (p.Arg1531Ser) c.1194A>C (p.Arg398Ser) c.1692A>C (p.Arg564Ser) n.2149A>C n.1357A>C n.2101A>C n.930A>C n.3525A>C n.2892A>C n.1266A>C n.7612A>C n.2238A>C n.2656A>C c.10767A>C (p.Arg3589Ser) c.10605A>C (p.Arg3535Ser) c.1899A>C (p.Arg633Ser) c.222A>C (p.Arg74Ser) c.4326A>C (p.Arg1442Ser) c.4413A>C (p.Arg1471Ser) c.4350A>C (p.Arg1450Ser) c.4548A>C (p.Arg1516Ser) c.4449A>C (p.Arg1483Ser) c.10641A>C (p.Arg3547Ser) c.4251A>C (p.Arg1417Ser) c.*5A>C (n.*5A>C) c.10584A>C (p.Arg3528Ser) c.4128A>C (p.Arg1376Ser) c.10581A>C (p.Arg3527Ser) c.4227A>C (p.Arg1409Ser) c.10812A>C (p.Arg3604Ser) c.4362A>C (p.Arg1454Ser) c.4347A>C (p.Arg1449Ser) c.10848A>C (p.Arg3616Ser) c.4335A>C (p.Arg1445Ser) c.10569A>C (p.Arg3523Ser) c.4287A>C (p.Arg1429Ser) c.4485A>C (p.Arg1495Ser) c.2076A>C (p.Arg692Ser) c.10668A>C (p.Arg3556Ser) c.4557A>C (p.Arg1519Ser) c.10704A>C (p.Arg3568Ser) c.4314A>C (p.Arg1438Ser) c.10506A>C (p.Arg3502Ser) c.4386A>C (p.Arg1462Ser) c.3930A>C (p.Arg1310Ser) c.2061A>C (p.Arg687Ser) c.10482A>C (p.Arg3494Ser) c.2040A>C (p.Arg680Ser) c.10713A>C (p.Arg3571Ser) c.4278A>C (p.Arg1426Ser) c.4020A>C (p.Arg1340Ser) c.10542A>C (p.Arg3514Ser) c.4512A>C (p.Arg1504Ser) c.469A>C c.1797A>C (p.Arg599Ser) n.621A>C c.468A>C (p.Arg156Ser) c.1516A>C c.*2128A>C (n.*2128A>C) c.10800A>C (p.Arg3600Ser) c.4509A>C (p.Arg1503Ser) c.10854A>C (p.Arg3618Ser) c.10818A>C (p.Arg3606Ser) c.4566A>C (p.Arg1522Ser) c.4599A>C (p.Arg1533Ser) c.4530A>C (p.Arg1510Ser) c.10794A>C (p.Arg3598Ser) c.10839A>C (p.Arg3613Ser) c.4524A>C (p.Arg1508Ser) c.4491A>C (p.Arg1497Ser) c.4554A>C (p.Arg1518Ser) c.4410A>C (p.Arg1470Ser) c.4590A>C (p.Arg1530Ser) c.4482A>C (p.Arg1494Ser) c.4446A>C (p.Arg1482Ser) c.4461A>C (p.Arg1487Ser) c.4371A>C (p.Arg1457Ser) c.4299A>C (p.Arg1433Ser) c.4383A>C (p.Arg1461Ser) c.4212A>C (p.Arg1404Ser) c.10884A>C (p.Arg3628Ser) c.10770A>C (p.Arg3590Ser) c.10740A>C (p.Arg3580Ser) c.10803A>C (p.Arg3601Ser) c.10533A>C (p.Arg3511Ser) c.4293A>C (p.Arg1431Ser) c.4338A>C (p.Arg1446Ser) c.4497A>C (p.Arg1499Ser) c.4569A>C (p.Arg1523Ser) c.4029A>C (p.Arg1343Ser) c.4356A>C (p.Arg1452Ser) c.7167A>C (p.Arg2389Ser) c.912A>C (p.Arg304Ser) c.4377A>C (p.Arg1459Ser) | |
4 | g.113363348A>G | CA440828897 | ANK2 | c.10908A>G (p.Arg3636=) c.4593A>G (p.Arg1531=) c.1194A>G (p.Arg398=) c.1692A>G (p.Arg564=) n.2149A>G n.1357A>G n.2101A>G n.930A>G n.3525A>G n.2892A>G n.1266A>G n.7612A>G n.2238A>G n.2656A>G c.10767A>G (p.Arg3589=) c.10605A>G (p.Arg3535=) c.1899A>G (p.Arg633=) c.222A>G (p.Arg74=) c.4326A>G (p.Arg1442=) c.4413A>G (p.Arg1471=) c.4350A>G (p.Arg1450=) c.4548A>G (p.Arg1516=) c.4449A>G (p.Arg1483=) c.10641A>G (p.Arg3547=) c.4251A>G (p.Arg1417=) c.*5A>G (n.*5A>G) c.10584A>G (p.Arg3528=) c.4128A>G (p.Arg1376=) c.10581A>G (p.Arg3527=) c.4227A>G (p.Arg1409=) c.10812A>G (p.Arg3604=) c.4362A>G (p.Arg1454=) c.4347A>G (p.Arg1449=) c.10848A>G (p.Arg3616=) c.4335A>G (p.Arg1445=) c.10569A>G (p.Arg3523=) c.4287A>G (p.Arg1429=) c.4485A>G (p.Arg1495=) c.2076A>G (p.Arg692=) c.10668A>G (p.Arg3556=) c.4557A>G (p.Arg1519=) c.10704A>G (p.Arg3568=) c.4314A>G (p.Arg1438=) c.10506A>G (p.Arg3502=) c.4386A>G (p.Arg1462=) c.3930A>G (p.Arg1310=) c.2061A>G (p.Arg687=) c.10482A>G (p.Arg3494=) c.2040A>G (p.Arg680=) c.10713A>G (p.Arg3571=) c.4278A>G (p.Arg1426=) c.4020A>G (p.Arg1340=) c.10542A>G (p.Arg3514=) c.4512A>G (p.Arg1504=) c.469A>G c.1797A>G (p.Arg599=) n.621A>G c.468A>G (p.Arg156=) c.1516A>G c.*2128A>G (n.*2128A>G) c.10800A>G (p.Arg3600=) c.4509A>G (p.Arg1503=) c.10854A>G (p.Arg3618=) c.10818A>G (p.Arg3606=) c.4566A>G (p.Arg1522=) c.4599A>G (p.Arg1533=) c.4530A>G (p.Arg1510=) c.10794A>G (p.Arg3598=) c.10839A>G (p.Arg3613=) c.4524A>G (p.Arg1508=) c.4491A>G (p.Arg1497=) c.4554A>G (p.Arg1518=) c.4410A>G (p.Arg1470=) c.4590A>G (p.Arg1530=) c.4482A>G (p.Arg1494=) c.4446A>G (p.Arg1482=) c.4461A>G (p.Arg1487=) c.4371A>G (p.Arg1457=) c.4299A>G (p.Arg1433=) c.4383A>G (p.Arg1461=) c.4212A>G (p.Arg1404=) c.10884A>G (p.Arg3628=) c.10770A>G (p.Arg3590=) c.10740A>G (p.Arg3580=) c.10803A>G (p.Arg3601=) c.10533A>G (p.Arg3511=) c.4293A>G (p.Arg1431=) c.4338A>G (p.Arg1446=) c.4497A>G (p.Arg1499=) c.4569A>G (p.Arg1523=) c.4029A>G (p.Arg1343=) c.4356A>G (p.Arg1452=) c.7167A>G (p.Arg2389=) c.912A>G (p.Arg304=) c.4377A>G (p.Arg1459=) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.113363348A>T | CA357941184 | ANK2 | c.10908A>T (p.Arg3636Ser) c.4593A>T (p.Arg1531Ser) c.1194A>T (p.Arg398Ser) c.1692A>T (p.Arg564Ser) n.2149A>T n.1357A>T n.2101A>T n.930A>T n.3525A>T n.2892A>T n.1266A>T n.7612A>T n.2238A>T n.2656A>T c.10767A>T (p.Arg3589Ser) c.10605A>T (p.Arg3535Ser) c.1899A>T (p.Arg633Ser) c.222A>T (p.Arg74Ser) c.4326A>T (p.Arg1442Ser) c.4413A>T (p.Arg1471Ser) c.4350A>T (p.Arg1450Ser) c.4548A>T (p.Arg1516Ser) c.4449A>T (p.Arg1483Ser) c.10641A>T (p.Arg3547Ser) c.4251A>T (p.Arg1417Ser) c.*5A>T (n.*5A>T) c.10584A>T (p.Arg3528Ser) c.4128A>T (p.Arg1376Ser) c.10581A>T (p.Arg3527Ser) c.4227A>T (p.Arg1409Ser) c.10812A>T (p.Arg3604Ser) c.4362A>T (p.Arg1454Ser) c.4347A>T (p.Arg1449Ser) c.10848A>T (p.Arg3616Ser) c.4335A>T (p.Arg1445Ser) c.10569A>T (p.Arg3523Ser) c.4287A>T (p.Arg1429Ser) c.4485A>T (p.Arg1495Ser) c.2076A>T (p.Arg692Ser) c.10668A>T (p.Arg3556Ser) c.4557A>T (p.Arg1519Ser) c.10704A>T (p.Arg3568Ser) c.4314A>T (p.Arg1438Ser) c.10506A>T (p.Arg3502Ser) c.4386A>T (p.Arg1462Ser) c.3930A>T (p.Arg1310Ser) c.2061A>T (p.Arg687Ser) c.10482A>T (p.Arg3494Ser) c.2040A>T (p.Arg680Ser) c.10713A>T (p.Arg3571Ser) c.4278A>T (p.Arg1426Ser) c.4020A>T (p.Arg1340Ser) c.10542A>T (p.Arg3514Ser) c.4512A>T (p.Arg1504Ser) c.469A>T c.1797A>T (p.Arg599Ser) n.621A>T c.468A>T (p.Arg156Ser) c.1516A>T c.*2128A>T (n.*2128A>T) c.10800A>T (p.Arg3600Ser) c.4509A>T (p.Arg1503Ser) c.10854A>T (p.Arg3618Ser) c.10818A>T (p.Arg3606Ser) c.4566A>T (p.Arg1522Ser) c.4599A>T (p.Arg1533Ser) c.4530A>T (p.Arg1510Ser) c.10794A>T (p.Arg3598Ser) c.10839A>T (p.Arg3613Ser) c.4524A>T (p.Arg1508Ser) c.4491A>T (p.Arg1497Ser) c.4554A>T (p.Arg1518Ser) c.4410A>T (p.Arg1470Ser) c.4590A>T (p.Arg1530Ser) c.4482A>T (p.Arg1494Ser) c.4446A>T (p.Arg1482Ser) c.4461A>T (p.Arg1487Ser) c.4371A>T (p.Arg1457Ser) c.4299A>T (p.Arg1433Ser) c.4383A>T (p.Arg1461Ser) c.4212A>T (p.Arg1404Ser) c.10884A>T (p.Arg3628Ser) c.10770A>T (p.Arg3590Ser) c.10740A>T (p.Arg3580Ser) c.10803A>T (p.Arg3601Ser) c.10533A>T (p.Arg3511Ser) c.4293A>T (p.Arg1431Ser) c.4338A>T (p.Arg1446Ser) c.4497A>T (p.Arg1499Ser) c.4569A>T (p.Arg1523Ser) c.4029A>T (p.Arg1343Ser) c.4356A>T (p.Arg1452Ser) c.7167A>T (p.Arg2389Ser) c.912A>T (p.Arg304Ser) c.4377A>T (p.Arg1459Ser) | |
4 | g.113363349G>A | CA357941185 | ANK2 | c.10909G>A (p.Glu3637Lys) c.4594G>A (p.Glu1532Lys) c.1195G>A (p.Glu399Lys) c.1693G>A (p.Glu565Lys) n.2150G>A n.1358G>A n.2102G>A n.931G>A n.3526G>A n.2893G>A n.1267G>A n.7613G>A n.2239G>A n.2657G>A c.10768G>A (p.Glu3590Lys) c.10606G>A (p.Glu3536Lys) c.1900G>A (p.Glu634Lys) c.223G>A (p.Glu75Lys) c.4327G>A (p.Glu1443Lys) c.4414G>A (p.Glu1472Lys) c.4351G>A (p.Glu1451Lys) c.4549G>A (p.Glu1517Lys) c.4450G>A (p.Glu1484Lys) c.10642G>A (p.Glu3548Lys) c.4252G>A (p.Glu1418Lys) c.*6G>A (n.*6G>A) c.10585G>A (p.Glu3529Lys) c.4129G>A (p.Glu1377Lys) c.10582G>A (p.Glu3528Lys) c.4228G>A (p.Glu1410Lys) c.10813G>A (p.Glu3605Lys) c.4363G>A (p.Glu1455Lys) c.4348G>A (p.Glu1450Lys) c.10849G>A (p.Glu3617Lys) c.4336G>A (p.Glu1446Lys) c.10570G>A (p.Glu3524Lys) c.4288G>A (p.Glu1430Lys) c.4486G>A (p.Glu1496Lys) c.2077G>A (p.Glu693Lys) c.10669G>A (p.Glu3557Lys) c.4558G>A (p.Glu1520Lys) c.10705G>A (p.Glu3569Lys) c.4315G>A (p.Glu1439Lys) c.10507G>A (p.Glu3503Lys) c.4387G>A (p.Glu1463Lys) c.3931G>A (p.Glu1311Lys) c.2062G>A (p.Glu688Lys) c.10483G>A (p.Glu3495Lys) c.2041G>A (p.Glu681Lys) c.10714G>A (p.Glu3572Lys) c.4279G>A (p.Glu1427Lys) c.4021G>A (p.Glu1341Lys) c.10543G>A (p.Glu3515Lys) c.4513G>A (p.Glu1505Lys) c.470G>A c.1798G>A (p.Glu600Lys) n.622G>A c.469G>A (p.Glu157Lys) c.1517G>A c.*2129G>A (n.*2129G>A) c.10801G>A (p.Glu3601Lys) c.4510G>A (p.Glu1504Lys) c.10855G>A (p.Glu3619Lys) c.10819G>A (p.Glu3607Lys) c.4567G>A (p.Glu1523Lys) c.4600G>A (p.Glu1534Lys) c.4531G>A (p.Glu1511Lys) c.10795G>A (p.Glu3599Lys) c.10840G>A (p.Glu3614Lys) c.4525G>A (p.Glu1509Lys) c.4492G>A (p.Glu1498Lys) c.4555G>A (p.Glu1519Lys) c.4411G>A (p.Glu1471Lys) c.4591G>A (p.Glu1531Lys) c.4483G>A (p.Glu1495Lys) c.4447G>A (p.Glu1483Lys) c.4462G>A (p.Glu1488Lys) c.4372G>A (p.Glu1458Lys) c.4300G>A (p.Glu1434Lys) c.4384G>A (p.Glu1462Lys) c.4213G>A (p.Glu1405Lys) c.10885G>A (p.Glu3629Lys) c.10771G>A (p.Glu3591Lys) c.10741G>A (p.Glu3581Lys) c.10804G>A (p.Glu3602Lys) c.10534G>A (p.Glu3512Lys) c.4294G>A (p.Glu1432Lys) c.4339G>A (p.Glu1447Lys) c.4498G>A (p.Glu1500Lys) c.4570G>A (p.Glu1524Lys) c.4030G>A (p.Glu1344Lys) c.4357G>A (p.Glu1453Lys) c.7168G>A (p.Glu2390Lys) c.913G>A (p.Glu305Lys) c.4378G>A (p.Glu1460Lys) | |
4 | g.113363349G>C | CA357941186 | ANK2 | c.10909G>C (p.Glu3637Gln) c.4594G>C (p.Glu1532Gln) c.1195G>C (p.Glu399Gln) c.1693G>C (p.Glu565Gln) n.2150G>C n.1358G>C n.2102G>C n.931G>C n.3526G>C n.2893G>C n.1267G>C n.7613G>C n.2239G>C n.2657G>C c.10768G>C (p.Glu3590Gln) c.10606G>C (p.Glu3536Gln) c.1900G>C (p.Glu634Gln) c.223G>C (p.Glu75Gln) c.4327G>C (p.Glu1443Gln) c.4414G>C (p.Glu1472Gln) c.4351G>C (p.Glu1451Gln) c.4549G>C (p.Glu1517Gln) c.4450G>C (p.Glu1484Gln) c.10642G>C (p.Glu3548Gln) c.4252G>C (p.Glu1418Gln) c.*6G>C (n.*6G>C) c.10585G>C (p.Glu3529Gln) c.4129G>C (p.Glu1377Gln) c.10582G>C (p.Glu3528Gln) c.4228G>C (p.Glu1410Gln) c.10813G>C (p.Glu3605Gln) c.4363G>C (p.Glu1455Gln) c.4348G>C (p.Glu1450Gln) c.10849G>C (p.Glu3617Gln) c.4336G>C (p.Glu1446Gln) c.10570G>C (p.Glu3524Gln) c.4288G>C (p.Glu1430Gln) c.4486G>C (p.Glu1496Gln) c.2077G>C (p.Glu693Gln) c.10669G>C (p.Glu3557Gln) c.4558G>C (p.Glu1520Gln) c.10705G>C (p.Glu3569Gln) c.4315G>C (p.Glu1439Gln) c.10507G>C (p.Glu3503Gln) c.4387G>C (p.Glu1463Gln) c.3931G>C (p.Glu1311Gln) c.2062G>C (p.Glu688Gln) c.10483G>C (p.Glu3495Gln) c.2041G>C (p.Glu681Gln) c.10714G>C (p.Glu3572Gln) c.4279G>C (p.Glu1427Gln) c.4021G>C (p.Glu1341Gln) c.10543G>C (p.Glu3515Gln) c.4513G>C (p.Glu1505Gln) c.470G>C c.1798G>C (p.Glu600Gln) n.622G>C c.469G>C (p.Glu157Gln) c.1517G>C c.*2129G>C (n.*2129G>C) c.10801G>C (p.Glu3601Gln) c.4510G>C (p.Glu1504Gln) c.10855G>C (p.Glu3619Gln) c.10819G>C (p.Glu3607Gln) c.4567G>C (p.Glu1523Gln) c.4600G>C (p.Glu1534Gln) c.4531G>C (p.Glu1511Gln) c.10795G>C (p.Glu3599Gln) c.10840G>C (p.Glu3614Gln) c.4525G>C (p.Glu1509Gln) c.4492G>C (p.Glu1498Gln) c.4555G>C (p.Glu1519Gln) c.4411G>C (p.Glu1471Gln) c.4591G>C (p.Glu1531Gln) c.4483G>C (p.Glu1495Gln) c.4447G>C (p.Glu1483Gln) c.4462G>C (p.Glu1488Gln) c.4372G>C (p.Glu1458Gln) c.4300G>C (p.Glu1434Gln) c.4384G>C (p.Glu1462Gln) c.4213G>C (p.Glu1405Gln) c.10885G>C (p.Glu3629Gln) c.10771G>C (p.Glu3591Gln) c.10741G>C (p.Glu3581Gln) c.10804G>C (p.Glu3602Gln) c.10534G>C (p.Glu3512Gln) c.4294G>C (p.Glu1432Gln) c.4339G>C (p.Glu1447Gln) c.4498G>C (p.Glu1500Gln) c.4570G>C (p.Glu1524Gln) c.4030G>C (p.Glu1344Gln) c.4357G>C (p.Glu1453Gln) c.7168G>C (p.Glu2390Gln) c.913G>C (p.Glu305Gln) c.4378G>C (p.Glu1460Gln) | |
4 | g.113363349G>T | CA357941187 | ANK2 | c.10909G>T (p.Glu3637Ter) c.4594G>T (p.Glu1532Ter) c.1195G>T (p.Glu399Ter) c.1693G>T (p.Glu565Ter) n.2150G>T n.1358G>T n.2102G>T n.931G>T n.3526G>T n.2893G>T n.1267G>T n.7613G>T n.2239G>T n.2657G>T c.10768G>T (p.Glu3590Ter) c.10606G>T (p.Glu3536Ter) c.1900G>T (p.Glu634Ter) c.223G>T (p.Glu75Ter) c.4327G>T (p.Glu1443Ter) c.4414G>T (p.Glu1472Ter) c.4351G>T (p.Glu1451Ter) c.4549G>T (p.Glu1517Ter) c.4450G>T (p.Glu1484Ter) c.10642G>T (p.Glu3548Ter) c.4252G>T (p.Glu1418Ter) c.*6G>T (n.*6G>T) c.10585G>T (p.Glu3529Ter) c.4129G>T (p.Glu1377Ter) c.10582G>T (p.Glu3528Ter) c.4228G>T (p.Glu1410Ter) c.10813G>T (p.Glu3605Ter) c.4363G>T (p.Glu1455Ter) c.4348G>T (p.Glu1450Ter) c.10849G>T (p.Glu3617Ter) c.4336G>T (p.Glu1446Ter) c.10570G>T (p.Glu3524Ter) c.4288G>T (p.Glu1430Ter) c.4486G>T (p.Glu1496Ter) c.2077G>T (p.Glu693Ter) c.10669G>T (p.Glu3557Ter) c.4558G>T (p.Glu1520Ter) c.10705G>T (p.Glu3569Ter) c.4315G>T (p.Glu1439Ter) c.10507G>T (p.Glu3503Ter) c.4387G>T (p.Glu1463Ter) c.3931G>T (p.Glu1311Ter) c.2062G>T (p.Glu688Ter) c.10483G>T (p.Glu3495Ter) c.2041G>T (p.Glu681Ter) c.10714G>T (p.Glu3572Ter) c.4279G>T (p.Glu1427Ter) c.4021G>T (p.Glu1341Ter) c.10543G>T (p.Glu3515Ter) c.4513G>T (p.Glu1505Ter) c.470G>T c.1798G>T (p.Glu600Ter) n.622G>T c.469G>T (p.Glu157Ter) c.1517G>T c.*2129G>T (n.*2129G>T) c.10801G>T (p.Glu3601Ter) c.4510G>T (p.Glu1504Ter) c.10855G>T (p.Glu3619Ter) c.10819G>T (p.Glu3607Ter) c.4567G>T (p.Glu1523Ter) c.4600G>T (p.Glu1534Ter) c.4531G>T (p.Glu1511Ter) c.10795G>T (p.Glu3599Ter) c.10840G>T (p.Glu3614Ter) c.4525G>T (p.Glu1509Ter) c.4492G>T (p.Glu1498Ter) c.4555G>T (p.Glu1519Ter) c.4411G>T (p.Glu1471Ter) c.4591G>T (p.Glu1531Ter) c.4483G>T (p.Glu1495Ter) c.4447G>T (p.Glu1483Ter) c.4462G>T (p.Glu1488Ter) c.4372G>T (p.Glu1458Ter) c.4300G>T (p.Glu1434Ter) c.4384G>T (p.Glu1462Ter) c.4213G>T (p.Glu1405Ter) c.10885G>T (p.Glu3629Ter) c.10771G>T (p.Glu3591Ter) c.10741G>T (p.Glu3581Ter) c.10804G>T (p.Glu3602Ter) c.10534G>T (p.Glu3512Ter) c.4294G>T (p.Glu1432Ter) c.4339G>T (p.Glu1447Ter) c.4498G>T (p.Glu1500Ter) c.4570G>T (p.Glu1524Ter) c.4030G>T (p.Glu1344Ter) c.4357G>T (p.Glu1453Ter) c.7168G>T (p.Glu2390Ter) c.913G>T (p.Glu305Ter) c.4378G>T (p.Glu1460Ter) | |
4 | g.113363350A>C | CA357941188 | ANK2 | c.10910A>C (p.Glu3637Ala) c.4595A>C (p.Glu1532Ala) c.1196A>C (p.Glu399Ala) c.1694A>C (p.Glu565Ala) n.2151A>C n.1359A>C n.2103A>C n.932A>C n.3527A>C n.2894A>C n.1268A>C n.7614A>C n.2240A>C n.2658A>C c.10769A>C (p.Glu3590Ala) c.10607A>C (p.Glu3536Ala) c.1901A>C (p.Glu634Ala) c.224A>C (p.Glu75Ala) c.4328A>C (p.Glu1443Ala) c.4415A>C (p.Glu1472Ala) c.4352A>C (p.Glu1451Ala) c.4550A>C (p.Glu1517Ala) c.4451A>C (p.Glu1484Ala) c.10643A>C (p.Glu3548Ala) c.4253A>C (p.Glu1418Ala) c.*7A>C (n.*7A>C) c.10586A>C (p.Glu3529Ala) c.4130A>C (p.Glu1377Ala) c.10583A>C (p.Glu3528Ala) c.4229A>C (p.Glu1410Ala) c.10814A>C (p.Glu3605Ala) c.4364A>C (p.Glu1455Ala) c.4349A>C (p.Glu1450Ala) c.10850A>C (p.Glu3617Ala) c.4337A>C (p.Glu1446Ala) c.10571A>C (p.Glu3524Ala) c.4289A>C (p.Glu1430Ala) c.4487A>C (p.Glu1496Ala) c.2078A>C (p.Glu693Ala) c.10670A>C (p.Glu3557Ala) c.4559A>C (p.Glu1520Ala) c.10706A>C (p.Glu3569Ala) c.4316A>C (p.Glu1439Ala) c.10508A>C (p.Glu3503Ala) c.4388A>C (p.Glu1463Ala) c.3932A>C (p.Glu1311Ala) c.2063A>C (p.Glu688Ala) c.10484A>C (p.Glu3495Ala) c.2042A>C (p.Glu681Ala) c.10715A>C (p.Glu3572Ala) c.4280A>C (p.Glu1427Ala) c.4022A>C (p.Glu1341Ala) c.10544A>C (p.Glu3515Ala) c.4514A>C (p.Glu1505Ala) c.471A>C c.1799A>C (p.Glu600Ala) n.623A>C c.470A>C (p.Glu157Ala) c.1518A>C c.*2130A>C (n.*2130A>C) c.10802A>C (p.Glu3601Ala) c.4511A>C (p.Glu1504Ala) c.10856A>C (p.Glu3619Ala) c.10820A>C (p.Glu3607Ala) c.4568A>C (p.Glu1523Ala) c.4601A>C (p.Glu1534Ala) c.4532A>C (p.Glu1511Ala) c.10796A>C (p.Glu3599Ala) c.10841A>C (p.Glu3614Ala) c.4526A>C (p.Glu1509Ala) c.4493A>C (p.Glu1498Ala) c.4556A>C (p.Glu1519Ala) c.4412A>C (p.Glu1471Ala) c.4592A>C (p.Glu1531Ala) c.4484A>C (p.Glu1495Ala) c.4448A>C (p.Glu1483Ala) c.4463A>C (p.Glu1488Ala) c.4373A>C (p.Glu1458Ala) c.4301A>C (p.Glu1434Ala) c.4385A>C (p.Glu1462Ala) c.4214A>C (p.Glu1405Ala) c.10886A>C (p.Glu3629Ala) c.10772A>C (p.Glu3591Ala) c.10742A>C (p.Glu3581Ala) c.10805A>C (p.Glu3602Ala) c.10535A>C (p.Glu3512Ala) c.4295A>C (p.Glu1432Ala) c.4340A>C (p.Glu1447Ala) c.4499A>C (p.Glu1500Ala) c.4571A>C (p.Glu1524Ala) c.4031A>C (p.Glu1344Ala) c.4358A>C (p.Glu1453Ala) c.7169A>C (p.Glu2390Ala) c.914A>C (p.Glu305Ala) c.4379A>C (p.Glu1460Ala) | |
4 | g.113363350A>G | CA357941189 | ANK2 | c.10910A>G (p.Glu3637Gly) c.4595A>G (p.Glu1532Gly) c.1196A>G (p.Glu399Gly) c.1694A>G (p.Glu565Gly) n.2151A>G n.1359A>G n.2103A>G n.932A>G n.3527A>G n.2894A>G n.1268A>G n.7614A>G n.2240A>G n.2658A>G c.10769A>G (p.Glu3590Gly) c.10607A>G (p.Glu3536Gly) c.1901A>G (p.Glu634Gly) c.224A>G (p.Glu75Gly) c.4328A>G (p.Glu1443Gly) c.4415A>G (p.Glu1472Gly) c.4352A>G (p.Glu1451Gly) c.4550A>G (p.Glu1517Gly) c.4451A>G (p.Glu1484Gly) c.10643A>G (p.Glu3548Gly) c.4253A>G (p.Glu1418Gly) c.*7A>G (n.*7A>G) c.10586A>G (p.Glu3529Gly) c.4130A>G (p.Glu1377Gly) c.10583A>G (p.Glu3528Gly) c.4229A>G (p.Glu1410Gly) c.10814A>G (p.Glu3605Gly) c.4364A>G (p.Glu1455Gly) c.4349A>G (p.Glu1450Gly) c.10850A>G (p.Glu3617Gly) c.4337A>G (p.Glu1446Gly) c.10571A>G (p.Glu3524Gly) c.4289A>G (p.Glu1430Gly) c.4487A>G (p.Glu1496Gly) c.2078A>G (p.Glu693Gly) c.10670A>G (p.Glu3557Gly) c.4559A>G (p.Glu1520Gly) c.10706A>G (p.Glu3569Gly) c.4316A>G (p.Glu1439Gly) c.10508A>G (p.Glu3503Gly) c.4388A>G (p.Glu1463Gly) c.3932A>G (p.Glu1311Gly) c.2063A>G (p.Glu688Gly) c.10484A>G (p.Glu3495Gly) c.2042A>G (p.Glu681Gly) c.10715A>G (p.Glu3572Gly) c.4280A>G (p.Glu1427Gly) c.4022A>G (p.Glu1341Gly) c.10544A>G (p.Glu3515Gly) c.4514A>G (p.Glu1505Gly) c.471A>G c.1799A>G (p.Glu600Gly) n.623A>G c.470A>G (p.Glu157Gly) c.1518A>G c.*2130A>G (n.*2130A>G) c.10802A>G (p.Glu3601Gly) c.4511A>G (p.Glu1504Gly) c.10856A>G (p.Glu3619Gly) c.10820A>G (p.Glu3607Gly) c.4568A>G (p.Glu1523Gly) c.4601A>G (p.Glu1534Gly) c.4532A>G (p.Glu1511Gly) c.10796A>G (p.Glu3599Gly) c.10841A>G (p.Glu3614Gly) c.4526A>G (p.Glu1509Gly) c.4493A>G (p.Glu1498Gly) c.4556A>G (p.Glu1519Gly) c.4412A>G (p.Glu1471Gly) c.4592A>G (p.Glu1531Gly) c.4484A>G (p.Glu1495Gly) c.4448A>G (p.Glu1483Gly) c.4463A>G (p.Glu1488Gly) c.4373A>G (p.Glu1458Gly) c.4301A>G (p.Glu1434Gly) c.4385A>G (p.Glu1462Gly) c.4214A>G (p.Glu1405Gly) c.10886A>G (p.Glu3629Gly) c.10772A>G (p.Glu3591Gly) c.10742A>G (p.Glu3581Gly) c.10805A>G (p.Glu3602Gly) c.10535A>G (p.Glu3512Gly) c.4295A>G (p.Glu1432Gly) c.4340A>G (p.Glu1447Gly) c.4499A>G (p.Glu1500Gly) c.4571A>G (p.Glu1524Gly) c.4031A>G (p.Glu1344Gly) c.4358A>G (p.Glu1453Gly) c.7169A>G (p.Glu2390Gly) c.914A>G (p.Glu305Gly) c.4379A>G (p.Glu1460Gly) | |
4 | g.113363350A>T | CA357941190 | ANK2 | c.10910A>T (p.Glu3637Val) c.4595A>T (p.Glu1532Val) c.1196A>T (p.Glu399Val) c.1694A>T (p.Glu565Val) n.2151A>T n.1359A>T n.2103A>T n.932A>T n.3527A>T n.2894A>T n.1268A>T n.7614A>T n.2240A>T n.2658A>T c.10769A>T (p.Glu3590Val) c.10607A>T (p.Glu3536Val) c.1901A>T (p.Glu634Val) c.224A>T (p.Glu75Val) c.4328A>T (p.Glu1443Val) c.4415A>T (p.Glu1472Val) c.4352A>T (p.Glu1451Val) c.4550A>T (p.Glu1517Val) c.4451A>T (p.Glu1484Val) c.10643A>T (p.Glu3548Val) c.4253A>T (p.Glu1418Val) c.*7A>T (n.*7A>T) c.10586A>T (p.Glu3529Val) c.4130A>T (p.Glu1377Val) c.10583A>T (p.Glu3528Val) c.4229A>T (p.Glu1410Val) c.10814A>T (p.Glu3605Val) c.4364A>T (p.Glu1455Val) c.4349A>T (p.Glu1450Val) c.10850A>T (p.Glu3617Val) c.4337A>T (p.Glu1446Val) c.10571A>T (p.Glu3524Val) c.4289A>T (p.Glu1430Val) c.4487A>T (p.Glu1496Val) c.2078A>T (p.Glu693Val) c.10670A>T (p.Glu3557Val) c.4559A>T (p.Glu1520Val) c.10706A>T (p.Glu3569Val) c.4316A>T (p.Glu1439Val) c.10508A>T (p.Glu3503Val) c.4388A>T (p.Glu1463Val) c.3932A>T (p.Glu1311Val) c.2063A>T (p.Glu688Val) c.10484A>T (p.Glu3495Val) c.2042A>T (p.Glu681Val) c.10715A>T (p.Glu3572Val) c.4280A>T (p.Glu1427Val) c.4022A>T (p.Glu1341Val) c.10544A>T (p.Glu3515Val) c.4514A>T (p.Glu1505Val) c.471A>T c.1799A>T (p.Glu600Val) n.623A>T c.470A>T (p.Glu157Val) c.1518A>T c.*2130A>T (n.*2130A>T) c.10802A>T (p.Glu3601Val) c.4511A>T (p.Glu1504Val) c.10856A>T (p.Glu3619Val) c.10820A>T (p.Glu3607Val) c.4568A>T (p.Glu1523Val) c.4601A>T (p.Glu1534Val) c.4532A>T (p.Glu1511Val) c.10796A>T (p.Glu3599Val) c.10841A>T (p.Glu3614Val) c.4526A>T (p.Glu1509Val) c.4493A>T (p.Glu1498Val) c.4556A>T (p.Glu1519Val) c.4412A>T (p.Glu1471Val) c.4592A>T (p.Glu1531Val) c.4484A>T (p.Glu1495Val) c.4448A>T (p.Glu1483Val) c.4463A>T (p.Glu1488Val) c.4373A>T (p.Glu1458Val) c.4301A>T (p.Glu1434Val) c.4385A>T (p.Glu1462Val) c.4214A>T (p.Glu1405Val) c.10886A>T (p.Glu3629Val) c.10772A>T (p.Glu3591Val) c.10742A>T (p.Glu3581Val) c.10805A>T (p.Glu3602Val) c.10535A>T (p.Glu3512Val) c.4295A>T (p.Glu1432Val) c.4340A>T (p.Glu1447Val) c.4499A>T (p.Glu1500Val) c.4571A>T (p.Glu1524Val) c.4031A>T (p.Glu1344Val) c.4358A>T (p.Glu1453Val) c.7169A>T (p.Glu2390Val) c.914A>T (p.Glu305Val) c.4379A>T (p.Glu1460Val) | |
4 | g.113363351A>C | CA357941191 | ANK2 | c.10911A>C (p.Glu3637Asp) c.4596A>C (p.Glu1532Asp) c.1197A>C (p.Glu399Asp) c.1695A>C (p.Glu565Asp) n.2152A>C n.1360A>C n.2104A>C n.933A>C n.3528A>C n.2895A>C n.1269A>C n.7615A>C n.2241A>C n.2659A>C c.10770A>C (p.Glu3590Asp) c.10608A>C (p.Glu3536Asp) c.1902A>C (p.Glu634Asp) c.225A>C (p.Glu75Asp) c.4329A>C (p.Glu1443Asp) c.4416A>C (p.Glu1472Asp) c.4353A>C (p.Glu1451Asp) c.4551A>C (p.Glu1517Asp) c.4452A>C (p.Glu1484Asp) c.10644A>C (p.Glu3548Asp) c.4254A>C (p.Glu1418Asp) c.*8A>C (n.*8A>C) c.10587A>C (p.Glu3529Asp) c.4131A>C (p.Glu1377Asp) c.10584A>C (p.Glu3528Asp) c.4230A>C (p.Glu1410Asp) c.10815A>C (p.Glu3605Asp) c.4365A>C (p.Glu1455Asp) c.4350A>C (p.Glu1450Asp) c.10851A>C (p.Glu3617Asp) c.4338A>C (p.Glu1446Asp) c.10572A>C (p.Glu3524Asp) c.4290A>C (p.Glu1430Asp) c.4488A>C (p.Glu1496Asp) c.2079A>C (p.Glu693Asp) c.10671A>C (p.Glu3557Asp) c.4560A>C (p.Glu1520Asp) c.10707A>C (p.Glu3569Asp) c.4317A>C (p.Glu1439Asp) c.10509A>C (p.Glu3503Asp) c.4389A>C (p.Glu1463Asp) c.3933A>C (p.Glu1311Asp) c.2064A>C (p.Glu688Asp) c.10485A>C (p.Glu3495Asp) c.2043A>C (p.Glu681Asp) c.10716A>C (p.Glu3572Asp) c.4281A>C (p.Glu1427Asp) c.4023A>C (p.Glu1341Asp) c.10545A>C (p.Glu3515Asp) c.4515A>C (p.Glu1505Asp) c.472A>C c.1800A>C (p.Glu600Asp) n.624A>C c.471A>C (p.Glu157Asp) c.1519A>C c.*2131A>C (n.*2131A>C) c.10803A>C (p.Glu3601Asp) c.4512A>C (p.Glu1504Asp) c.10857A>C (p.Glu3619Asp) c.10821A>C (p.Glu3607Asp) c.4569A>C (p.Glu1523Asp) c.4602A>C (p.Glu1534Asp) c.4533A>C (p.Glu1511Asp) c.10797A>C (p.Glu3599Asp) c.10842A>C (p.Glu3614Asp) c.4527A>C (p.Glu1509Asp) c.4494A>C (p.Glu1498Asp) c.4557A>C (p.Glu1519Asp) c.4413A>C (p.Glu1471Asp) c.4593A>C (p.Glu1531Asp) c.4485A>C (p.Glu1495Asp) c.4449A>C (p.Glu1483Asp) c.4464A>C (p.Glu1488Asp) c.4374A>C (p.Glu1458Asp) c.4302A>C (p.Glu1434Asp) c.4386A>C (p.Glu1462Asp) c.4215A>C (p.Glu1405Asp) c.10887A>C (p.Glu3629Asp) c.10773A>C (p.Glu3591Asp) c.10743A>C (p.Glu3581Asp) c.10806A>C (p.Glu3602Asp) c.10536A>C (p.Glu3512Asp) c.4296A>C (p.Glu1432Asp) c.4341A>C (p.Glu1447Asp) c.4500A>C (p.Glu1500Asp) c.4572A>C (p.Glu1524Asp) c.4032A>C (p.Glu1344Asp) c.4359A>C (p.Glu1453Asp) c.7170A>C (p.Glu2390Asp) c.915A>C (p.Glu305Asp) c.4380A>C (p.Glu1460Asp) | |
4 | g.113363351A>G | CA16604678 | ANK2 | c.10911A>G (p.Glu3637=) c.4596A>G (p.Glu1532=) c.1197A>G (p.Glu399=) c.1695A>G (p.Glu565=) n.2152A>G n.1360A>G n.2104A>G n.933A>G n.3528A>G n.2895A>G n.1269A>G n.7615A>G n.2241A>G n.2659A>G c.10770A>G (p.Glu3590=) c.10608A>G (p.Glu3536=) c.1902A>G (p.Glu634=) c.225A>G (p.Glu75=) c.4329A>G (p.Glu1443=) c.4416A>G (p.Glu1472=) c.4353A>G (p.Glu1451=) c.4551A>G (p.Glu1517=) c.4452A>G (p.Glu1484=) c.10644A>G (p.Glu3548=) c.4254A>G (p.Glu1418=) c.*8A>G (n.*8A>G) c.10587A>G (p.Glu3529=) c.4131A>G (p.Glu1377=) c.10584A>G (p.Glu3528=) c.4230A>G (p.Glu1410=) c.10815A>G (p.Glu3605=) c.4365A>G (p.Glu1455=) c.4350A>G (p.Glu1450=) c.10851A>G (p.Glu3617=) c.4338A>G (p.Glu1446=) c.10572A>G (p.Glu3524=) c.4290A>G (p.Glu1430=) c.4488A>G (p.Glu1496=) c.2079A>G (p.Glu693=) c.10671A>G (p.Glu3557=) c.4560A>G (p.Glu1520=) c.10707A>G (p.Glu3569=) c.4317A>G (p.Glu1439=) c.10509A>G (p.Glu3503=) c.4389A>G (p.Glu1463=) c.3933A>G (p.Glu1311=) c.2064A>G (p.Glu688=) c.10485A>G (p.Glu3495=) c.2043A>G (p.Glu681=) c.10716A>G (p.Glu3572=) c.4281A>G (p.Glu1427=) c.4023A>G (p.Glu1341=) c.10545A>G (p.Glu3515=) c.4515A>G (p.Glu1505=) c.472A>G c.1800A>G (p.Glu600=) n.624A>G c.471A>G (p.Glu157=) c.1519A>G c.*2131A>G (n.*2131A>G) c.10803A>G (p.Glu3601=) c.4512A>G (p.Glu1504=) c.10857A>G (p.Glu3619=) c.10821A>G (p.Glu3607=) c.4569A>G (p.Glu1523=) c.4602A>G (p.Glu1534=) c.4533A>G (p.Glu1511=) c.10797A>G (p.Glu3599=) c.10842A>G (p.Glu3614=) c.4527A>G (p.Glu1509=) c.4494A>G (p.Glu1498=) c.4557A>G (p.Glu1519=) c.4413A>G (p.Glu1471=) c.4593A>G (p.Glu1531=) c.4485A>G (p.Glu1495=) c.4449A>G (p.Glu1483=) c.4464A>G (p.Glu1488=) c.4374A>G (p.Glu1458=) c.4302A>G (p.Glu1434=) c.4386A>G (p.Glu1462=) c.4215A>G (p.Glu1405=) c.10887A>G (p.Glu3629=) c.10773A>G (p.Glu3591=) c.10743A>G (p.Glu3581=) c.10806A>G (p.Glu3602=) c.10536A>G (p.Glu3512=) c.4296A>G (p.Glu1432=) c.4341A>G (p.Glu1447=) c.4500A>G (p.Glu1500=) c.4572A>G (p.Glu1524=) c.4032A>G (p.Glu1344=) c.4359A>G (p.Glu1453=) c.7170A>G (p.Glu2390=) c.915A>G (p.Glu305=) c.4380A>G (p.Glu1460=) | ClinVar dbSNP gnomAD v4 |
4 | g.113363351A>T | CA357941192 | ANK2 | c.10911A>T (p.Glu3637Asp) c.4596A>T (p.Glu1532Asp) c.1197A>T (p.Glu399Asp) c.1695A>T (p.Glu565Asp) n.2152A>T n.1360A>T n.2104A>T n.933A>T n.3528A>T n.2895A>T n.1269A>T n.7615A>T n.2241A>T n.2659A>T c.10770A>T (p.Glu3590Asp) c.10608A>T (p.Glu3536Asp) c.1902A>T (p.Glu634Asp) c.225A>T (p.Glu75Asp) c.4329A>T (p.Glu1443Asp) c.4416A>T (p.Glu1472Asp) c.4353A>T (p.Glu1451Asp) c.4551A>T (p.Glu1517Asp) c.4452A>T (p.Glu1484Asp) c.10644A>T (p.Glu3548Asp) c.4254A>T (p.Glu1418Asp) c.*8A>T (n.*8A>T) c.10587A>T (p.Glu3529Asp) c.4131A>T (p.Glu1377Asp) c.10584A>T (p.Glu3528Asp) c.4230A>T (p.Glu1410Asp) c.10815A>T (p.Glu3605Asp) c.4365A>T (p.Glu1455Asp) c.4350A>T (p.Glu1450Asp) c.10851A>T (p.Glu3617Asp) c.4338A>T (p.Glu1446Asp) c.10572A>T (p.Glu3524Asp) c.4290A>T (p.Glu1430Asp) c.4488A>T (p.Glu1496Asp) c.2079A>T (p.Glu693Asp) c.10671A>T (p.Glu3557Asp) c.4560A>T (p.Glu1520Asp) c.10707A>T (p.Glu3569Asp) c.4317A>T (p.Glu1439Asp) c.10509A>T (p.Glu3503Asp) c.4389A>T (p.Glu1463Asp) c.3933A>T (p.Glu1311Asp) c.2064A>T (p.Glu688Asp) c.10485A>T (p.Glu3495Asp) c.2043A>T (p.Glu681Asp) c.10716A>T (p.Glu3572Asp) c.4281A>T (p.Glu1427Asp) c.4023A>T (p.Glu1341Asp) c.10545A>T (p.Glu3515Asp) c.4515A>T (p.Glu1505Asp) c.472A>T c.1800A>T (p.Glu600Asp) n.624A>T c.471A>T (p.Glu157Asp) c.1519A>T c.*2131A>T (n.*2131A>T) c.10803A>T (p.Glu3601Asp) c.4512A>T (p.Glu1504Asp) c.10857A>T (p.Glu3619Asp) c.10821A>T (p.Glu3607Asp) c.4569A>T (p.Glu1523Asp) c.4602A>T (p.Glu1534Asp) c.4533A>T (p.Glu1511Asp) c.10797A>T (p.Glu3599Asp) c.10842A>T (p.Glu3614Asp) c.4527A>T (p.Glu1509Asp) c.4494A>T (p.Glu1498Asp) c.4557A>T (p.Glu1519Asp) c.4413A>T (p.Glu1471Asp) c.4593A>T (p.Glu1531Asp) c.4485A>T (p.Glu1495Asp) c.4449A>T (p.Glu1483Asp) c.4464A>T (p.Glu1488Asp) c.4374A>T (p.Glu1458Asp) c.4302A>T (p.Glu1434Asp) c.4386A>T (p.Glu1462Asp) c.4215A>T (p.Glu1405Asp) c.10887A>T (p.Glu3629Asp) c.10773A>T (p.Glu3591Asp) c.10743A>T (p.Glu3581Asp) c.10806A>T (p.Glu3602Asp) c.10536A>T (p.Glu3512Asp) c.4296A>T (p.Glu1432Asp) c.4341A>T (p.Glu1447Asp) c.4500A>T (p.Glu1500Asp) c.4572A>T (p.Glu1524Asp) c.4032A>T (p.Glu1344Asp) c.4359A>T (p.Glu1453Asp) c.7170A>T (p.Glu2390Asp) c.915A>T (p.Glu305Asp) c.4380A>T (p.Glu1460Asp) | |
4 | g.113363352C>A | CA357941193 | ANK2 | c.10912C>A (p.Leu3638Met) c.4597C>A (p.Leu1533Met) c.1198C>A (p.Leu400Met) c.1696C>A (p.Leu566Met) n.2153C>A n.1361C>A n.2105C>A n.934C>A n.3529C>A n.2896C>A n.1270C>A n.7616C>A n.2242C>A n.2660C>A c.10771C>A (p.Leu3591Met) c.10609C>A (p.Leu3537Met) c.1903C>A (p.Leu635Met) c.226C>A (p.Leu76Met) c.4330C>A (p.Leu1444Met) c.4417C>A (p.Leu1473Met) c.4354C>A (p.Leu1452Met) c.4552C>A (p.Leu1518Met) c.4453C>A (p.Leu1485Met) c.10645C>A (p.Leu3549Met) c.4255C>A (p.Leu1419Met) c.*9C>A (n.*9C>A) c.10588C>A (p.Leu3530Met) c.4132C>A (p.Leu1378Met) c.10585C>A (p.Leu3529Met) c.4231C>A (p.Leu1411Met) c.10816C>A (p.Leu3606Met) c.4366C>A (p.Leu1456Met) c.4351C>A (p.Leu1451Met) c.10852C>A (p.Leu3618Met) c.4339C>A (p.Leu1447Met) c.10573C>A (p.Leu3525Met) c.4291C>A (p.Leu1431Met) c.4489C>A (p.Leu1497Met) c.2080C>A (p.Leu694Met) c.10672C>A (p.Leu3558Met) c.4561C>A (p.Leu1521Met) c.10708C>A (p.Leu3570Met) c.4318C>A (p.Leu1440Met) c.10510C>A (p.Leu3504Met) c.4390C>A (p.Leu1464Met) c.3934C>A (p.Leu1312Met) c.2065C>A (p.Leu689Met) c.10486C>A (p.Leu3496Met) c.2044C>A (p.Leu682Met) c.10717C>A (p.Leu3573Met) c.4282C>A (p.Leu1428Met) c.4024C>A (p.Leu1342Met) c.10546C>A (p.Leu3516Met) c.4516C>A (p.Leu1506Met) c.473C>A c.1801C>A (p.Leu601Met) n.625C>A c.472C>A (p.Leu158Met) c.1520C>A c.*2132C>A (n.*2132C>A) c.10804C>A (p.Leu3602Met) c.4513C>A (p.Leu1505Met) c.10858C>A (p.Leu3620Met) c.10822C>A (p.Leu3608Met) c.4570C>A (p.Leu1524Met) c.4603C>A (p.Leu1535Met) c.4534C>A (p.Leu1512Met) c.10798C>A (p.Leu3600Met) c.10843C>A (p.Leu3615Met) c.4528C>A (p.Leu1510Met) c.4495C>A (p.Leu1499Met) c.4558C>A (p.Leu1520Met) c.4414C>A (p.Leu1472Met) c.4594C>A (p.Leu1532Met) c.4486C>A (p.Leu1496Met) c.4450C>A (p.Leu1484Met) c.4465C>A (p.Leu1489Met) c.4375C>A (p.Leu1459Met) c.4303C>A (p.Leu1435Met) c.4387C>A (p.Leu1463Met) c.4216C>A (p.Leu1406Met) c.10888C>A (p.Leu3630Met) c.10774C>A (p.Leu3592Met) c.10744C>A (p.Leu3582Met) c.10807C>A (p.Leu3603Met) c.10537C>A (p.Leu3513Met) c.4297C>A (p.Leu1433Met) c.4342C>A (p.Leu1448Met) c.4501C>A (p.Leu1501Met) c.4573C>A (p.Leu1525Met) c.4033C>A (p.Leu1345Met) c.4360C>A (p.Leu1454Met) c.7171C>A (p.Leu2391Met) c.916C>A (p.Leu306Met) c.4381C>A (p.Leu1461Met) | |
4 | g.113363352C>G | CA357941194 | ANK2 | c.10912C>G (p.Leu3638Val) c.4597C>G (p.Leu1533Val) c.1198C>G (p.Leu400Val) c.1696C>G (p.Leu566Val) n.2153C>G n.1361C>G n.2105C>G n.934C>G n.3529C>G n.2896C>G n.1270C>G n.7616C>G n.2242C>G n.2660C>G c.10771C>G (p.Leu3591Val) c.10609C>G (p.Leu3537Val) c.1903C>G (p.Leu635Val) c.226C>G (p.Leu76Val) c.4330C>G (p.Leu1444Val) c.4417C>G (p.Leu1473Val) c.4354C>G (p.Leu1452Val) c.4552C>G (p.Leu1518Val) c.4453C>G (p.Leu1485Val) c.10645C>G (p.Leu3549Val) c.4255C>G (p.Leu1419Val) c.*9C>G (n.*9C>G) c.10588C>G (p.Leu3530Val) c.4132C>G (p.Leu1378Val) c.10585C>G (p.Leu3529Val) c.4231C>G (p.Leu1411Val) c.10816C>G (p.Leu3606Val) c.4366C>G (p.Leu1456Val) c.4351C>G (p.Leu1451Val) c.10852C>G (p.Leu3618Val) c.4339C>G (p.Leu1447Val) c.10573C>G (p.Leu3525Val) c.4291C>G (p.Leu1431Val) c.4489C>G (p.Leu1497Val) c.2080C>G (p.Leu694Val) c.10672C>G (p.Leu3558Val) c.4561C>G (p.Leu1521Val) c.10708C>G (p.Leu3570Val) c.4318C>G (p.Leu1440Val) c.10510C>G (p.Leu3504Val) c.4390C>G (p.Leu1464Val) c.3934C>G (p.Leu1312Val) c.2065C>G (p.Leu689Val) c.10486C>G (p.Leu3496Val) c.2044C>G (p.Leu682Val) c.10717C>G (p.Leu3573Val) c.4282C>G (p.Leu1428Val) c.4024C>G (p.Leu1342Val) c.10546C>G (p.Leu3516Val) c.4516C>G (p.Leu1506Val) c.473C>G c.1801C>G (p.Leu601Val) n.625C>G c.472C>G (p.Leu158Val) c.1520C>G c.*2132C>G (n.*2132C>G) c.10804C>G (p.Leu3602Val) c.4513C>G (p.Leu1505Val) c.10858C>G (p.Leu3620Val) c.10822C>G (p.Leu3608Val) c.4570C>G (p.Leu1524Val) c.4603C>G (p.Leu1535Val) c.4534C>G (p.Leu1512Val) c.10798C>G (p.Leu3600Val) c.10843C>G (p.Leu3615Val) c.4528C>G (p.Leu1510Val) c.4495C>G (p.Leu1499Val) c.4558C>G (p.Leu1520Val) c.4414C>G (p.Leu1472Val) c.4594C>G (p.Leu1532Val) c.4486C>G (p.Leu1496Val) c.4450C>G (p.Leu1484Val) c.4465C>G (p.Leu1489Val) c.4375C>G (p.Leu1459Val) c.4303C>G (p.Leu1435Val) c.4387C>G (p.Leu1463Val) c.4216C>G (p.Leu1406Val) c.10888C>G (p.Leu3630Val) c.10774C>G (p.Leu3592Val) c.10744C>G (p.Leu3582Val) c.10807C>G (p.Leu3603Val) c.10537C>G (p.Leu3513Val) c.4297C>G (p.Leu1433Val) c.4342C>G (p.Leu1448Val) c.4501C>G (p.Leu1501Val) c.4573C>G (p.Leu1525Val) c.4033C>G (p.Leu1345Val) c.4360C>G (p.Leu1454Val) c.7171C>G (p.Leu2391Val) c.916C>G (p.Leu306Val) c.4381C>G (p.Leu1461Val) | dbSNP gnomAD v4 |
4 | g.113363352C>T | CA440828901 | ANK2 | c.10912C>T (p.Leu3638=) c.4597C>T (p.Leu1533=) c.1198C>T (p.Leu400=) c.1696C>T (p.Leu566=) n.2153C>T n.1361C>T n.2105C>T n.934C>T n.3529C>T n.2896C>T n.1270C>T n.7616C>T n.2242C>T n.2660C>T c.10771C>T (p.Leu3591=) c.10609C>T (p.Leu3537=) c.1903C>T (p.Leu635=) c.226C>T (p.Leu76=) c.4330C>T (p.Leu1444=) c.4417C>T (p.Leu1473=) c.4354C>T (p.Leu1452=) c.4552C>T (p.Leu1518=) c.4453C>T (p.Leu1485=) c.10645C>T (p.Leu3549=) c.4255C>T (p.Leu1419=) c.*9C>T (n.*9C>T) c.10588C>T (p.Leu3530=) c.4132C>T (p.Leu1378=) c.10585C>T (p.Leu3529=) c.4231C>T (p.Leu1411=) c.10816C>T (p.Leu3606=) c.4366C>T (p.Leu1456=) c.4351C>T (p.Leu1451=) c.10852C>T (p.Leu3618=) c.4339C>T (p.Leu1447=) c.10573C>T (p.Leu3525=) c.4291C>T (p.Leu1431=) c.4489C>T (p.Leu1497=) c.2080C>T (p.Leu694=) c.10672C>T (p.Leu3558=) c.4561C>T (p.Leu1521=) c.10708C>T (p.Leu3570=) c.4318C>T (p.Leu1440=) c.10510C>T (p.Leu3504=) c.4390C>T (p.Leu1464=) c.3934C>T (p.Leu1312=) c.2065C>T (p.Leu689=) c.10486C>T (p.Leu3496=) c.2044C>T (p.Leu682=) c.10717C>T (p.Leu3573=) c.4282C>T (p.Leu1428=) c.4024C>T (p.Leu1342=) c.10546C>T (p.Leu3516=) c.4516C>T (p.Leu1506=) c.473C>T c.1801C>T (p.Leu601=) n.625C>T c.472C>T (p.Leu158=) c.1520C>T c.*2132C>T (n.*2132C>T) c.10804C>T (p.Leu3602=) c.4513C>T (p.Leu1505=) c.10858C>T (p.Leu3620=) c.10822C>T (p.Leu3608=) c.4570C>T (p.Leu1524=) c.4603C>T (p.Leu1535=) c.4534C>T (p.Leu1512=) c.10798C>T (p.Leu3600=) c.10843C>T (p.Leu3615=) c.4528C>T (p.Leu1510=) c.4495C>T (p.Leu1499=) c.4558C>T (p.Leu1520=) c.4414C>T (p.Leu1472=) c.4594C>T (p.Leu1532=) c.4486C>T (p.Leu1496=) c.4450C>T (p.Leu1484=) c.4465C>T (p.Leu1489=) c.4375C>T (p.Leu1459=) c.4303C>T (p.Leu1435=) c.4387C>T (p.Leu1463=) c.4216C>T (p.Leu1406=) c.10888C>T (p.Leu3630=) c.10774C>T (p.Leu3592=) c.10744C>T (p.Leu3582=) c.10807C>T (p.Leu3603=) c.10537C>T (p.Leu3513=) c.4297C>T (p.Leu1433=) c.4342C>T (p.Leu1448=) c.4501C>T (p.Leu1501=) c.4573C>T (p.Leu1525=) c.4033C>T (p.Leu1345=) c.4360C>T (p.Leu1454=) c.7171C>T (p.Leu2391=) c.916C>T (p.Leu306=) c.4381C>T (p.Leu1461=) | |
4 | g.113363353T>A | CA357941195 | ANK2 | c.10913T>A (p.Leu3638Gln) c.4598T>A (p.Leu1533Gln) c.1199T>A (p.Leu400Gln) c.1697T>A (p.Leu566Gln) n.2154T>A n.1362T>A n.2106T>A n.935T>A n.3530T>A n.2897T>A n.1271T>A n.7617T>A n.2243T>A n.2661T>A c.10772T>A (p.Leu3591Gln) c.10610T>A (p.Leu3537Gln) c.1904T>A (p.Leu635Gln) c.227T>A (p.Leu76Gln) c.4331T>A (p.Leu1444Gln) c.4418T>A (p.Leu1473Gln) c.4355T>A (p.Leu1452Gln) c.4553T>A (p.Leu1518Gln) c.4454T>A (p.Leu1485Gln) c.10646T>A (p.Leu3549Gln) c.4256T>A (p.Leu1419Gln) c.*10T>A (n.*10T>A) c.10589T>A (p.Leu3530Gln) c.4133T>A (p.Leu1378Gln) c.10586T>A (p.Leu3529Gln) c.4232T>A (p.Leu1411Gln) c.10817T>A (p.Leu3606Gln) c.4367T>A (p.Leu1456Gln) c.4352T>A (p.Leu1451Gln) c.10853T>A (p.Leu3618Gln) c.4340T>A (p.Leu1447Gln) c.10574T>A (p.Leu3525Gln) c.4292T>A (p.Leu1431Gln) c.4490T>A (p.Leu1497Gln) c.2081T>A (p.Leu694Gln) c.10673T>A (p.Leu3558Gln) c.4562T>A (p.Leu1521Gln) c.10709T>A (p.Leu3570Gln) c.4319T>A (p.Leu1440Gln) c.10511T>A (p.Leu3504Gln) c.4391T>A (p.Leu1464Gln) c.3935T>A (p.Leu1312Gln) c.2066T>A (p.Leu689Gln) c.10487T>A (p.Leu3496Gln) c.2045T>A (p.Leu682Gln) c.10718T>A (p.Leu3573Gln) c.4283T>A (p.Leu1428Gln) c.4025T>A (p.Leu1342Gln) c.10547T>A (p.Leu3516Gln) c.4517T>A (p.Leu1506Gln) c.474T>A c.1802T>A (p.Leu601Gln) n.626T>A c.473T>A (p.Leu158Gln) c.1521T>A c.*2133T>A (n.*2133T>A) c.10805T>A (p.Leu3602Gln) c.4514T>A (p.Leu1505Gln) c.10859T>A (p.Leu3620Gln) c.10823T>A (p.Leu3608Gln) c.4571T>A (p.Leu1524Gln) c.4604T>A (p.Leu1535Gln) c.4535T>A (p.Leu1512Gln) c.10799T>A (p.Leu3600Gln) c.10844T>A (p.Leu3615Gln) c.4529T>A (p.Leu1510Gln) c.4496T>A (p.Leu1499Gln) c.4559T>A (p.Leu1520Gln) c.4415T>A (p.Leu1472Gln) c.4595T>A (p.Leu1532Gln) c.4487T>A (p.Leu1496Gln) c.4451T>A (p.Leu1484Gln) c.4466T>A (p.Leu1489Gln) c.4376T>A (p.Leu1459Gln) c.4304T>A (p.Leu1435Gln) c.4388T>A (p.Leu1463Gln) c.4217T>A (p.Leu1406Gln) c.10889T>A (p.Leu3630Gln) c.10775T>A (p.Leu3592Gln) c.10745T>A (p.Leu3582Gln) c.10808T>A (p.Leu3603Gln) c.10538T>A (p.Leu3513Gln) c.4298T>A (p.Leu1433Gln) c.4343T>A (p.Leu1448Gln) c.4502T>A (p.Leu1501Gln) c.4574T>A (p.Leu1525Gln) c.4034T>A (p.Leu1345Gln) c.4361T>A (p.Leu1454Gln) c.7172T>A (p.Leu2391Gln) c.917T>A (p.Leu306Gln) c.4382T>A (p.Leu1461Gln) | |
4 | g.113363353T>C | CA357941197 | ANK2 | c.10913T>C (p.Leu3638Pro) c.4598T>C (p.Leu1533Pro) c.1199T>C (p.Leu400Pro) c.1697T>C (p.Leu566Pro) n.2154T>C n.1362T>C n.2106T>C n.935T>C n.3530T>C n.2897T>C n.1271T>C n.7617T>C n.2243T>C n.2661T>C c.10772T>C (p.Leu3591Pro) c.10610T>C (p.Leu3537Pro) c.1904T>C (p.Leu635Pro) c.227T>C (p.Leu76Pro) c.4331T>C (p.Leu1444Pro) c.4418T>C (p.Leu1473Pro) c.4355T>C (p.Leu1452Pro) c.4553T>C (p.Leu1518Pro) c.4454T>C (p.Leu1485Pro) c.10646T>C (p.Leu3549Pro) c.4256T>C (p.Leu1419Pro) c.*10T>C (n.*10T>C) c.10589T>C (p.Leu3530Pro) c.4133T>C (p.Leu1378Pro) c.10586T>C (p.Leu3529Pro) c.4232T>C (p.Leu1411Pro) c.10817T>C (p.Leu3606Pro) c.4367T>C (p.Leu1456Pro) c.4352T>C (p.Leu1451Pro) c.10853T>C (p.Leu3618Pro) c.4340T>C (p.Leu1447Pro) c.10574T>C (p.Leu3525Pro) c.4292T>C (p.Leu1431Pro) c.4490T>C (p.Leu1497Pro) c.2081T>C (p.Leu694Pro) c.10673T>C (p.Leu3558Pro) c.4562T>C (p.Leu1521Pro) c.10709T>C (p.Leu3570Pro) c.4319T>C (p.Leu1440Pro) c.10511T>C (p.Leu3504Pro) c.4391T>C (p.Leu1464Pro) c.3935T>C (p.Leu1312Pro) c.2066T>C (p.Leu689Pro) c.10487T>C (p.Leu3496Pro) c.2045T>C (p.Leu682Pro) c.10718T>C (p.Leu3573Pro) c.4283T>C (p.Leu1428Pro) c.4025T>C (p.Leu1342Pro) c.10547T>C (p.Leu3516Pro) c.4517T>C (p.Leu1506Pro) c.474T>C c.1802T>C (p.Leu601Pro) n.626T>C c.473T>C (p.Leu158Pro) c.1521T>C c.*2133T>C (n.*2133T>C) c.10805T>C (p.Leu3602Pro) c.4514T>C (p.Leu1505Pro) c.10859T>C (p.Leu3620Pro) c.10823T>C (p.Leu3608Pro) c.4571T>C (p.Leu1524Pro) c.4604T>C (p.Leu1535Pro) c.4535T>C (p.Leu1512Pro) c.10799T>C (p.Leu3600Pro) c.10844T>C (p.Leu3615Pro) c.4529T>C (p.Leu1510Pro) c.4496T>C (p.Leu1499Pro) c.4559T>C (p.Leu1520Pro) c.4415T>C (p.Leu1472Pro) c.4595T>C (p.Leu1532Pro) c.4487T>C (p.Leu1496Pro) c.4451T>C (p.Leu1484Pro) c.4466T>C (p.Leu1489Pro) c.4376T>C (p.Leu1459Pro) c.4304T>C (p.Leu1435Pro) c.4388T>C (p.Leu1463Pro) c.4217T>C (p.Leu1406Pro) c.10889T>C (p.Leu3630Pro) c.10775T>C (p.Leu3592Pro) c.10745T>C (p.Leu3582Pro) c.10808T>C (p.Leu3603Pro) c.10538T>C (p.Leu3513Pro) c.4298T>C (p.Leu1433Pro) c.4343T>C (p.Leu1448Pro) c.4502T>C (p.Leu1501Pro) c.4574T>C (p.Leu1525Pro) c.4034T>C (p.Leu1345Pro) c.4361T>C (p.Leu1454Pro) c.7172T>C (p.Leu2391Pro) c.917T>C (p.Leu306Pro) c.4382T>C (p.Leu1461Pro) | |
4 | g.113363353T>G | CA357941196 | ANK2 | c.10913T>G (p.Leu3638Arg) c.4598T>G (p.Leu1533Arg) c.1199T>G (p.Leu400Arg) c.1697T>G (p.Leu566Arg) n.2154T>G n.1362T>G n.2106T>G n.935T>G n.3530T>G n.2897T>G n.1271T>G n.7617T>G n.2243T>G n.2661T>G c.10772T>G (p.Leu3591Arg) c.10610T>G (p.Leu3537Arg) c.1904T>G (p.Leu635Arg) c.227T>G (p.Leu76Arg) c.4331T>G (p.Leu1444Arg) c.4418T>G (p.Leu1473Arg) c.4355T>G (p.Leu1452Arg) c.4553T>G (p.Leu1518Arg) c.4454T>G (p.Leu1485Arg) c.10646T>G (p.Leu3549Arg) c.4256T>G (p.Leu1419Arg) c.*10T>G (n.*10T>G) c.10589T>G (p.Leu3530Arg) c.4133T>G (p.Leu1378Arg) c.10586T>G (p.Leu3529Arg) c.4232T>G (p.Leu1411Arg) c.10817T>G (p.Leu3606Arg) c.4367T>G (p.Leu1456Arg) c.4352T>G (p.Leu1451Arg) c.10853T>G (p.Leu3618Arg) c.4340T>G (p.Leu1447Arg) c.10574T>G (p.Leu3525Arg) c.4292T>G (p.Leu1431Arg) c.4490T>G (p.Leu1497Arg) c.2081T>G (p.Leu694Arg) c.10673T>G (p.Leu3558Arg) c.4562T>G (p.Leu1521Arg) c.10709T>G (p.Leu3570Arg) c.4319T>G (p.Leu1440Arg) c.10511T>G (p.Leu3504Arg) c.4391T>G (p.Leu1464Arg) c.3935T>G (p.Leu1312Arg) c.2066T>G (p.Leu689Arg) c.10487T>G (p.Leu3496Arg) c.2045T>G (p.Leu682Arg) c.10718T>G (p.Leu3573Arg) c.4283T>G (p.Leu1428Arg) c.4025T>G (p.Leu1342Arg) c.10547T>G (p.Leu3516Arg) c.4517T>G (p.Leu1506Arg) c.474T>G c.1802T>G (p.Leu601Arg) n.626T>G c.473T>G (p.Leu158Arg) c.1521T>G c.*2133T>G (n.*2133T>G) c.10805T>G (p.Leu3602Arg) c.4514T>G (p.Leu1505Arg) c.10859T>G (p.Leu3620Arg) c.10823T>G (p.Leu3608Arg) c.4571T>G (p.Leu1524Arg) c.4604T>G (p.Leu1535Arg) c.4535T>G (p.Leu1512Arg) c.10799T>G (p.Leu3600Arg) c.10844T>G (p.Leu3615Arg) c.4529T>G (p.Leu1510Arg) c.4496T>G (p.Leu1499Arg) c.4559T>G (p.Leu1520Arg) c.4415T>G (p.Leu1472Arg) c.4595T>G (p.Leu1532Arg) c.4487T>G (p.Leu1496Arg) c.4451T>G (p.Leu1484Arg) c.4466T>G (p.Leu1489Arg) c.4376T>G (p.Leu1459Arg) c.4304T>G (p.Leu1435Arg) c.4388T>G (p.Leu1463Arg) c.4217T>G (p.Leu1406Arg) c.10889T>G (p.Leu3630Arg) c.10775T>G (p.Leu3592Arg) c.10745T>G (p.Leu3582Arg) c.10808T>G (p.Leu3603Arg) c.10538T>G (p.Leu3513Arg) c.4298T>G (p.Leu1433Arg) c.4343T>G (p.Leu1448Arg) c.4502T>G (p.Leu1501Arg) c.4574T>G (p.Leu1525Arg) c.4034T>G (p.Leu1345Arg) c.4361T>G (p.Leu1454Arg) c.7172T>G (p.Leu2391Arg) c.917T>G (p.Leu306Arg) c.4382T>G (p.Leu1461Arg) | gnomAD v4 |
4 | g.113363354G>A | CA440828903 | ANK2 | c.10914G>A (p.Leu3638=) c.4599G>A (p.Leu1533=) c.1200G>A (p.Leu400=) c.1698G>A (p.Leu566=) n.2155G>A n.1363G>A n.2107G>A n.936G>A n.3531G>A n.2898G>A n.1272G>A n.7618G>A n.2244G>A n.2662G>A c.10773G>A (p.Leu3591=) c.10611G>A (p.Leu3537=) c.1905G>A (p.Leu635=) c.228G>A (p.Leu76=) c.4332G>A (p.Leu1444=) c.4419G>A (p.Leu1473=) c.4356G>A (p.Leu1452=) c.4554G>A (p.Leu1518=) c.4455G>A (p.Leu1485=) c.10647G>A (p.Leu3549=) c.4257G>A (p.Leu1419=) c.*11G>A (n.*11G>A) c.10590G>A (p.Leu3530=) c.4134G>A (p.Leu1378=) c.10587G>A (p.Leu3529=) c.4233G>A (p.Leu1411=) c.10818G>A (p.Leu3606=) c.4368G>A (p.Leu1456=) c.4353G>A (p.Leu1451=) c.10854G>A (p.Leu3618=) c.4341G>A (p.Leu1447=) c.10575G>A (p.Leu3525=) c.4293G>A (p.Leu1431=) c.4491G>A (p.Leu1497=) c.2082G>A (p.Leu694=) c.10674G>A (p.Leu3558=) c.4563G>A (p.Leu1521=) c.10710G>A (p.Leu3570=) c.4320G>A (p.Leu1440=) c.10512G>A (p.Leu3504=) c.4392G>A (p.Leu1464=) c.3936G>A (p.Leu1312=) c.2067G>A (p.Leu689=) c.10488G>A (p.Leu3496=) c.2046G>A (p.Leu682=) c.10719G>A (p.Leu3573=) c.4284G>A (p.Leu1428=) c.4026G>A (p.Leu1342=) c.10548G>A (p.Leu3516=) c.4518G>A (p.Leu1506=) c.475G>A c.1803G>A (p.Leu601=) n.627G>A c.474G>A (p.Leu158=) c.1522G>A c.*2134G>A (n.*2134G>A) c.10806G>A (p.Leu3602=) c.4515G>A (p.Leu1505=) c.10860G>A (p.Leu3620=) c.10824G>A (p.Leu3608=) c.4572G>A (p.Leu1524=) c.4605G>A (p.Leu1535=) c.4536G>A (p.Leu1512=) c.10800G>A (p.Leu3600=) c.10845G>A (p.Leu3615=) c.4530G>A (p.Leu1510=) c.4497G>A (p.Leu1499=) c.4560G>A (p.Leu1520=) c.4416G>A (p.Leu1472=) c.4596G>A (p.Leu1532=) c.4488G>A (p.Leu1496=) c.4452G>A (p.Leu1484=) c.4467G>A (p.Leu1489=) c.4377G>A (p.Leu1459=) c.4305G>A (p.Leu1435=) c.4389G>A (p.Leu1463=) c.4218G>A (p.Leu1406=) c.10890G>A (p.Leu3630=) c.10776G>A (p.Leu3592=) c.10746G>A (p.Leu3582=) c.10809G>A (p.Leu3603=) c.10539G>A (p.Leu3513=) c.4299G>A (p.Leu1433=) c.4344G>A (p.Leu1448=) c.4503G>A (p.Leu1501=) c.4575G>A (p.Leu1525=) c.4035G>A (p.Leu1345=) c.4362G>A (p.Leu1454=) c.7173G>A (p.Leu2391=) c.918G>A (p.Leu306=) c.4383G>A (p.Leu1461=) | |
4 | g.113363354G>C | CA440828904 | ANK2 | c.10914G>C (p.Leu3638=) c.4599G>C (p.Leu1533=) c.1200G>C (p.Leu400=) c.1698G>C (p.Leu566=) n.2155G>C n.1363G>C n.2107G>C n.936G>C n.3531G>C n.2898G>C n.1272G>C n.7618G>C n.2244G>C n.2662G>C c.10773G>C (p.Leu3591=) c.10611G>C (p.Leu3537=) c.1905G>C (p.Leu635=) c.228G>C (p.Leu76=) c.4332G>C (p.Leu1444=) c.4419G>C (p.Leu1473=) c.4356G>C (p.Leu1452=) c.4554G>C (p.Leu1518=) c.4455G>C (p.Leu1485=) c.10647G>C (p.Leu3549=) c.4257G>C (p.Leu1419=) c.*11G>C (n.*11G>C) c.10590G>C (p.Leu3530=) c.4134G>C (p.Leu1378=) c.10587G>C (p.Leu3529=) c.4233G>C (p.Leu1411=) c.10818G>C (p.Leu3606=) c.4368G>C (p.Leu1456=) c.4353G>C (p.Leu1451=) c.10854G>C (p.Leu3618=) c.4341G>C (p.Leu1447=) c.10575G>C (p.Leu3525=) c.4293G>C (p.Leu1431=) c.4491G>C (p.Leu1497=) c.2082G>C (p.Leu694=) c.10674G>C (p.Leu3558=) c.4563G>C (p.Leu1521=) c.10710G>C (p.Leu3570=) c.4320G>C (p.Leu1440=) c.10512G>C (p.Leu3504=) c.4392G>C (p.Leu1464=) c.3936G>C (p.Leu1312=) c.2067G>C (p.Leu689=) c.10488G>C (p.Leu3496=) c.2046G>C (p.Leu682=) c.10719G>C (p.Leu3573=) c.4284G>C (p.Leu1428=) c.4026G>C (p.Leu1342=) c.10548G>C (p.Leu3516=) c.4518G>C (p.Leu1506=) c.475G>C c.1803G>C (p.Leu601=) n.627G>C c.474G>C (p.Leu158=) c.1522G>C c.*2134G>C (n.*2134G>C) c.10806G>C (p.Leu3602=) c.4515G>C (p.Leu1505=) c.10860G>C (p.Leu3620=) c.10824G>C (p.Leu3608=) c.4572G>C (p.Leu1524=) c.4605G>C (p.Leu1535=) c.4536G>C (p.Leu1512=) c.10800G>C (p.Leu3600=) c.10845G>C (p.Leu3615=) c.4530G>C (p.Leu1510=) c.4497G>C (p.Leu1499=) c.4560G>C (p.Leu1520=) c.4416G>C (p.Leu1472=) c.4596G>C (p.Leu1532=) c.4488G>C (p.Leu1496=) c.4452G>C (p.Leu1484=) c.4467G>C (p.Leu1489=) c.4377G>C (p.Leu1459=) c.4305G>C (p.Leu1435=) c.4389G>C (p.Leu1463=) c.4218G>C (p.Leu1406=) c.10890G>C (p.Leu3630=) c.10776G>C (p.Leu3592=) c.10746G>C (p.Leu3582=) c.10809G>C (p.Leu3603=) c.10539G>C (p.Leu3513=) c.4299G>C (p.Leu1433=) c.4344G>C (p.Leu1448=) c.4503G>C (p.Leu1501=) c.4575G>C (p.Leu1525=) c.4035G>C (p.Leu1345=) c.4362G>C (p.Leu1454=) c.7173G>C (p.Leu2391=) c.918G>C (p.Leu306=) c.4383G>C (p.Leu1461=) | |
4 | g.113363354G>T | CA440828905 | ANK2 | c.10914G>T (p.Leu3638=) c.4599G>T (p.Leu1533=) c.1200G>T (p.Leu400=) c.1698G>T (p.Leu566=) n.2155G>T n.1363G>T n.2107G>T n.936G>T n.3531G>T n.2898G>T n.1272G>T n.7618G>T n.2244G>T n.2662G>T c.10773G>T (p.Leu3591=) c.10611G>T (p.Leu3537=) c.1905G>T (p.Leu635=) c.228G>T (p.Leu76=) c.4332G>T (p.Leu1444=) c.4419G>T (p.Leu1473=) c.4356G>T (p.Leu1452=) c.4554G>T (p.Leu1518=) c.4455G>T (p.Leu1485=) c.10647G>T (p.Leu3549=) c.4257G>T (p.Leu1419=) c.*11G>T (n.*11G>T) c.10590G>T (p.Leu3530=) c.4134G>T (p.Leu1378=) c.10587G>T (p.Leu3529=) c.4233G>T (p.Leu1411=) c.10818G>T (p.Leu3606=) c.4368G>T (p.Leu1456=) c.4353G>T (p.Leu1451=) c.10854G>T (p.Leu3618=) c.4341G>T (p.Leu1447=) c.10575G>T (p.Leu3525=) c.4293G>T (p.Leu1431=) c.4491G>T (p.Leu1497=) c.2082G>T (p.Leu694=) c.10674G>T (p.Leu3558=) c.4563G>T (p.Leu1521=) c.10710G>T (p.Leu3570=) c.4320G>T (p.Leu1440=) c.10512G>T (p.Leu3504=) c.4392G>T (p.Leu1464=) c.3936G>T (p.Leu1312=) c.2067G>T (p.Leu689=) c.10488G>T (p.Leu3496=) c.2046G>T (p.Leu682=) c.10719G>T (p.Leu3573=) c.4284G>T (p.Leu1428=) c.4026G>T (p.Leu1342=) c.10548G>T (p.Leu3516=) c.4518G>T (p.Leu1506=) c.475G>T c.1803G>T (p.Leu601=) n.627G>T c.474G>T (p.Leu158=) c.1522G>T c.*2134G>T (n.*2134G>T) c.10806G>T (p.Leu3602=) c.4515G>T (p.Leu1505=) c.10860G>T (p.Leu3620=) c.10824G>T (p.Leu3608=) c.4572G>T (p.Leu1524=) c.4605G>T (p.Leu1535=) c.4536G>T (p.Leu1512=) c.10800G>T (p.Leu3600=) c.10845G>T (p.Leu3615=) c.4530G>T (p.Leu1510=) c.4497G>T (p.Leu1499=) c.4560G>T (p.Leu1520=) c.4416G>T (p.Leu1472=) c.4596G>T (p.Leu1532=) c.4488G>T (p.Leu1496=) c.4452G>T (p.Leu1484=) c.4467G>T (p.Leu1489=) c.4377G>T (p.Leu1459=) c.4305G>T (p.Leu1435=) c.4389G>T (p.Leu1463=) c.4218G>T (p.Leu1406=) c.10890G>T (p.Leu3630=) c.10776G>T (p.Leu3592=) c.10746G>T (p.Leu3582=) c.10809G>T (p.Leu3603=) c.10539G>T (p.Leu3513=) c.4299G>T (p.Leu1433=) c.4344G>T (p.Leu1448=) c.4503G>T (p.Leu1501=) c.4575G>T (p.Leu1525=) c.4035G>T (p.Leu1345=) c.4362G>T (p.Leu1454=) c.7173G>T (p.Leu2391=) c.918G>T (p.Leu306=) c.4383G>T (p.Leu1461=) | |
4 | g.113363355G>A | CA357941198 | ANK2 | c.10915G>A (p.Asp3639Asn) c.4600G>A (p.Asp1534Asn) c.1201G>A (p.Asp401Asn) c.1699G>A (p.Asp567Asn) n.2156G>A n.1364G>A n.2108G>A n.937G>A n.3532G>A n.2899G>A n.1273G>A n.7619G>A n.2245G>A n.2663G>A c.10774G>A (p.Asp3592Asn) c.10612G>A (p.Asp3538Asn) c.1906G>A (p.Asp636Asn) c.229G>A (p.Asp77Asn) c.4333G>A (p.Asp1445Asn) c.4420G>A (p.Asp1474Asn) c.4357G>A (p.Asp1453Asn) c.4555G>A (p.Asp1519Asn) c.4456G>A (p.Asp1486Asn) c.10648G>A (p.Asp3550Asn) c.4258G>A (p.Asp1420Asn) c.*12G>A (n.*12G>A) c.10591G>A (p.Asp3531Asn) c.4135G>A (p.Asp1379Asn) c.10588G>A (p.Asp3530Asn) c.4234G>A (p.Asp1412Asn) c.10819G>A (p.Asp3607Asn) c.4369G>A (p.Asp1457Asn) c.4354G>A (p.Asp1452Asn) c.10855G>A (p.Asp3619Asn) c.4342G>A (p.Asp1448Asn) c.10576G>A (p.Asp3526Asn) c.4294G>A (p.Asp1432Asn) c.4492G>A (p.Asp1498Asn) c.2083G>A (p.Asp695Asn) c.10675G>A (p.Asp3559Asn) c.4564G>A (p.Asp1522Asn) c.10711G>A (p.Asp3571Asn) c.4321G>A (p.Asp1441Asn) c.10513G>A (p.Asp3505Asn) c.4393G>A (p.Asp1465Asn) c.3937G>A (p.Asp1313Asn) c.2068G>A (p.Asp690Asn) c.10489G>A (p.Asp3497Asn) c.2047G>A (p.Asp683Asn) c.10720G>A (p.Asp3574Asn) c.4285G>A (p.Asp1429Asn) c.4027G>A (p.Asp1343Asn) c.10549G>A (p.Asp3517Asn) c.4519G>A (p.Asp1507Asn) c.476G>A c.1804G>A (p.Asp602Asn) n.628G>A c.475G>A (p.Asp159Asn) c.1523G>A c.*2135G>A (n.*2135G>A) c.10807G>A (p.Asp3603Asn) c.4516G>A (p.Asp1506Asn) c.10861G>A (p.Asp3621Asn) c.10825G>A (p.Asp3609Asn) c.4573G>A (p.Asp1525Asn) c.4606G>A (p.Asp1536Asn) c.4537G>A (p.Asp1513Asn) c.10801G>A (p.Asp3601Asn) c.10846G>A (p.Asp3616Asn) c.4531G>A (p.Asp1511Asn) c.4498G>A (p.Asp1500Asn) c.4561G>A (p.Asp1521Asn) c.4417G>A (p.Asp1473Asn) c.4597G>A (p.Asp1533Asn) c.4489G>A (p.Asp1497Asn) c.4453G>A (p.Asp1485Asn) c.4468G>A (p.Asp1490Asn) c.4378G>A (p.Asp1460Asn) c.4306G>A (p.Asp1436Asn) c.4390G>A (p.Asp1464Asn) c.4219G>A (p.Asp1407Asn) c.10891G>A (p.Asp3631Asn) c.10777G>A (p.Asp3593Asn) c.10747G>A (p.Asp3583Asn) c.10810G>A (p.Asp3604Asn) c.10540G>A (p.Asp3514Asn) c.4300G>A (p.Asp1434Asn) c.4345G>A (p.Asp1449Asn) c.4504G>A (p.Asp1502Asn) c.4576G>A (p.Asp1526Asn) c.4036G>A (p.Asp1346Asn) c.4363G>A (p.Asp1455Asn) c.7174G>A (p.Asp2392Asn) c.919G>A (p.Asp307Asn) c.4384G>A (p.Asp1462Asn) | dbSNP |
4 | g.113363355G>C | CA357941199 | ANK2 | c.10915G>C (p.Asp3639His) c.4600G>C (p.Asp1534His) c.1201G>C (p.Asp401His) c.1699G>C (p.Asp567His) n.2156G>C n.1364G>C n.2108G>C n.937G>C n.3532G>C n.2899G>C n.1273G>C n.7619G>C n.2245G>C n.2663G>C c.10774G>C (p.Asp3592His) c.10612G>C (p.Asp3538His) c.1906G>C (p.Asp636His) c.229G>C (p.Asp77His) c.4333G>C (p.Asp1445His) c.4420G>C (p.Asp1474His) c.4357G>C (p.Asp1453His) c.4555G>C (p.Asp1519His) c.4456G>C (p.Asp1486His) c.10648G>C (p.Asp3550His) c.4258G>C (p.Asp1420His) c.*12G>C (n.*12G>C) c.10591G>C (p.Asp3531His) c.4135G>C (p.Asp1379His) c.10588G>C (p.Asp3530His) c.4234G>C (p.Asp1412His) c.10819G>C (p.Asp3607His) c.4369G>C (p.Asp1457His) c.4354G>C (p.Asp1452His) c.10855G>C (p.Asp3619His) c.4342G>C (p.Asp1448His) c.10576G>C (p.Asp3526His) c.4294G>C (p.Asp1432His) c.4492G>C (p.Asp1498His) c.2083G>C (p.Asp695His) c.10675G>C (p.Asp3559His) c.4564G>C (p.Asp1522His) c.10711G>C (p.Asp3571His) c.4321G>C (p.Asp1441His) c.10513G>C (p.Asp3505His) c.4393G>C (p.Asp1465His) c.3937G>C (p.Asp1313His) c.2068G>C (p.Asp690His) c.10489G>C (p.Asp3497His) c.2047G>C (p.Asp683His) c.10720G>C (p.Asp3574His) c.4285G>C (p.Asp1429His) c.4027G>C (p.Asp1343His) c.10549G>C (p.Asp3517His) c.4519G>C (p.Asp1507His) c.476G>C c.1804G>C (p.Asp602His) n.628G>C c.475G>C (p.Asp159His) c.1523G>C c.*2135G>C (n.*2135G>C) c.10807G>C (p.Asp3603His) c.4516G>C (p.Asp1506His) c.10861G>C (p.Asp3621His) c.10825G>C (p.Asp3609His) c.4573G>C (p.Asp1525His) c.4606G>C (p.Asp1536His) c.4537G>C (p.Asp1513His) c.10801G>C (p.Asp3601His) c.10846G>C (p.Asp3616His) c.4531G>C (p.Asp1511His) c.4498G>C (p.Asp1500His) c.4561G>C (p.Asp1521His) c.4417G>C (p.Asp1473His) c.4597G>C (p.Asp1533His) c.4489G>C (p.Asp1497His) c.4453G>C (p.Asp1485His) c.4468G>C (p.Asp1490His) c.4378G>C (p.Asp1460His) c.4306G>C (p.Asp1436His) c.4390G>C (p.Asp1464His) c.4219G>C (p.Asp1407His) c.10891G>C (p.Asp3631His) c.10777G>C (p.Asp3593His) c.10747G>C (p.Asp3583His) c.10810G>C (p.Asp3604His) c.10540G>C (p.Asp3514His) c.4300G>C (p.Asp1434His) c.4345G>C (p.Asp1449His) c.4504G>C (p.Asp1502His) c.4576G>C (p.Asp1526His) c.4036G>C (p.Asp1346His) c.4363G>C (p.Asp1455His) c.7174G>C (p.Asp2392His) c.919G>C (p.Asp307His) c.4384G>C (p.Asp1462His) | |
4 | g.113363355G>T | CA3052135 | ANK2 | c.10915G>T (p.Asp3639Tyr) c.4600G>T (p.Asp1534Tyr) c.1201G>T (p.Asp401Tyr) c.1699G>T (p.Asp567Tyr) n.2156G>T n.1364G>T n.2108G>T n.937G>T n.3532G>T n.2899G>T n.1273G>T n.7619G>T n.2245G>T n.2663G>T c.10774G>T (p.Asp3592Tyr) c.10612G>T (p.Asp3538Tyr) c.1906G>T (p.Asp636Tyr) c.229G>T (p.Asp77Tyr) c.4333G>T (p.Asp1445Tyr) c.4420G>T (p.Asp1474Tyr) c.4357G>T (p.Asp1453Tyr) c.4555G>T (p.Asp1519Tyr) c.4456G>T (p.Asp1486Tyr) c.10648G>T (p.Asp3550Tyr) c.4258G>T (p.Asp1420Tyr) c.*12G>T (n.*12G>T) c.10591G>T (p.Asp3531Tyr) c.4135G>T (p.Asp1379Tyr) c.10588G>T (p.Asp3530Tyr) c.4234G>T (p.Asp1412Tyr) c.10819G>T (p.Asp3607Tyr) c.4369G>T (p.Asp1457Tyr) c.4354G>T (p.Asp1452Tyr) c.10855G>T (p.Asp3619Tyr) c.4342G>T (p.Asp1448Tyr) c.10576G>T (p.Asp3526Tyr) c.4294G>T (p.Asp1432Tyr) c.4492G>T (p.Asp1498Tyr) c.2083G>T (p.Asp695Tyr) c.10675G>T (p.Asp3559Tyr) c.4564G>T (p.Asp1522Tyr) c.10711G>T (p.Asp3571Tyr) c.4321G>T (p.Asp1441Tyr) c.10513G>T (p.Asp3505Tyr) c.4393G>T (p.Asp1465Tyr) c.3937G>T (p.Asp1313Tyr) c.2068G>T (p.Asp690Tyr) c.10489G>T (p.Asp3497Tyr) c.2047G>T (p.Asp683Tyr) c.10720G>T (p.Asp3574Tyr) c.4285G>T (p.Asp1429Tyr) c.4027G>T (p.Asp1343Tyr) c.10549G>T (p.Asp3517Tyr) c.4519G>T (p.Asp1507Tyr) c.476G>T c.1804G>T (p.Asp602Tyr) n.628G>T c.475G>T (p.Asp159Tyr) c.1523G>T c.*2135G>T (n.*2135G>T) c.10807G>T (p.Asp3603Tyr) c.4516G>T (p.Asp1506Tyr) c.10861G>T (p.Asp3621Tyr) c.10825G>T (p.Asp3609Tyr) c.4573G>T (p.Asp1525Tyr) c.4606G>T (p.Asp1536Tyr) c.4537G>T (p.Asp1513Tyr) c.10801G>T (p.Asp3601Tyr) c.10846G>T (p.Asp3616Tyr) c.4531G>T (p.Asp1511Tyr) c.4498G>T (p.Asp1500Tyr) c.4561G>T (p.Asp1521Tyr) c.4417G>T (p.Asp1473Tyr) c.4597G>T (p.Asp1533Tyr) c.4489G>T (p.Asp1497Tyr) c.4453G>T (p.Asp1485Tyr) c.4468G>T (p.Asp1490Tyr) c.4378G>T (p.Asp1460Tyr) c.4306G>T (p.Asp1436Tyr) c.4390G>T (p.Asp1464Tyr) c.4219G>T (p.Asp1407Tyr) c.10891G>T (p.Asp3631Tyr) c.10777G>T (p.Asp3593Tyr) c.10747G>T (p.Asp3583Tyr) c.10810G>T (p.Asp3604Tyr) c.10540G>T (p.Asp3514Tyr) c.4300G>T (p.Asp1434Tyr) c.4345G>T (p.Asp1449Tyr) c.4504G>T (p.Asp1502Tyr) c.4576G>T (p.Asp1526Tyr) c.4036G>T (p.Asp1346Tyr) c.4363G>T (p.Asp1455Tyr) c.7174G>T (p.Asp2392Tyr) c.919G>T (p.Asp307Tyr) c.4384G>T (p.Asp1462Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.113363356A>C | CA357941200 | ANK2 | c.10916A>C (p.Asp3639Ala) c.4601A>C (p.Asp1534Ala) c.1202A>C (p.Asp401Ala) c.1700A>C (p.Asp567Ala) n.2157A>C n.1365A>C n.2109A>C n.938A>C n.3533A>C n.2900A>C n.1274A>C n.7620A>C n.2246A>C n.2664A>C c.10775A>C (p.Asp3592Ala) c.10613A>C (p.Asp3538Ala) c.1907A>C (p.Asp636Ala) c.230A>C (p.Asp77Ala) c.4334A>C (p.Asp1445Ala) c.4421A>C (p.Asp1474Ala) c.4358A>C (p.Asp1453Ala) c.4556A>C (p.Asp1519Ala) c.4457A>C (p.Asp1486Ala) c.10649A>C (p.Asp3550Ala) c.4259A>C (p.Asp1420Ala) c.*13A>C (n.*13A>C) c.10592A>C (p.Asp3531Ala) c.4136A>C (p.Asp1379Ala) c.10589A>C (p.Asp3530Ala) c.4235A>C (p.Asp1412Ala) c.10820A>C (p.Asp3607Ala) c.4370A>C (p.Asp1457Ala) c.4355A>C (p.Asp1452Ala) c.10856A>C (p.Asp3619Ala) c.4343A>C (p.Asp1448Ala) c.10577A>C (p.Asp3526Ala) c.4295A>C (p.Asp1432Ala) c.4493A>C (p.Asp1498Ala) c.2084A>C (p.Asp695Ala) c.10676A>C (p.Asp3559Ala) c.4565A>C (p.Asp1522Ala) c.10712A>C (p.Asp3571Ala) c.4322A>C (p.Asp1441Ala) c.10514A>C (p.Asp3505Ala) c.4394A>C (p.Asp1465Ala) c.3938A>C (p.Asp1313Ala) c.2069A>C (p.Asp690Ala) c.10490A>C (p.Asp3497Ala) c.2048A>C (p.Asp683Ala) c.10721A>C (p.Asp3574Ala) c.4286A>C (p.Asp1429Ala) c.4028A>C (p.Asp1343Ala) c.10550A>C (p.Asp3517Ala) c.4520A>C (p.Asp1507Ala) c.477A>C c.1805A>C (p.Asp602Ala) n.629A>C c.476A>C (p.Asp159Ala) c.1524A>C c.*2136A>C (n.*2136A>C) c.10808A>C (p.Asp3603Ala) c.4517A>C (p.Asp1506Ala) c.10862A>C (p.Asp3621Ala) c.10826A>C (p.Asp3609Ala) c.4574A>C (p.Asp1525Ala) c.4607A>C (p.Asp1536Ala) c.4538A>C (p.Asp1513Ala) c.10802A>C (p.Asp3601Ala) c.10847A>C (p.Asp3616Ala) c.4532A>C (p.Asp1511Ala) c.4499A>C (p.Asp1500Ala) c.4562A>C (p.Asp1521Ala) c.4418A>C (p.Asp1473Ala) c.4598A>C (p.Asp1533Ala) c.4490A>C (p.Asp1497Ala) c.4454A>C (p.Asp1485Ala) c.4469A>C (p.Asp1490Ala) c.4379A>C (p.Asp1460Ala) c.4307A>C (p.Asp1436Ala) c.4391A>C (p.Asp1464Ala) c.4220A>C (p.Asp1407Ala) c.10892A>C (p.Asp3631Ala) c.10778A>C (p.Asp3593Ala) c.10748A>C (p.Asp3583Ala) c.10811A>C (p.Asp3604Ala) c.10541A>C (p.Asp3514Ala) c.4301A>C (p.Asp1434Ala) c.4346A>C (p.Asp1449Ala) c.4505A>C (p.Asp1502Ala) c.4577A>C (p.Asp1526Ala) c.4037A>C (p.Asp1346Ala) c.4364A>C (p.Asp1455Ala) c.7175A>C (p.Asp2392Ala) c.920A>C (p.Asp307Ala) c.4385A>C (p.Asp1462Ala) | |
4 | g.113363356A>G | CA357941201 | ANK2 | c.10916A>G (p.Asp3639Gly) c.4601A>G (p.Asp1534Gly) c.1202A>G (p.Asp401Gly) c.1700A>G (p.Asp567Gly) n.2157A>G n.1365A>G n.2109A>G n.938A>G n.3533A>G n.2900A>G n.1274A>G n.7620A>G n.2246A>G n.2664A>G c.10775A>G (p.Asp3592Gly) c.10613A>G (p.Asp3538Gly) c.1907A>G (p.Asp636Gly) c.230A>G (p.Asp77Gly) c.4334A>G (p.Asp1445Gly) c.4421A>G (p.Asp1474Gly) c.4358A>G (p.Asp1453Gly) c.4556A>G (p.Asp1519Gly) c.4457A>G (p.Asp1486Gly) c.10649A>G (p.Asp3550Gly) c.4259A>G (p.Asp1420Gly) c.*13A>G (n.*13A>G) c.10592A>G (p.Asp3531Gly) c.4136A>G (p.Asp1379Gly) c.10589A>G (p.Asp3530Gly) c.4235A>G (p.Asp1412Gly) c.10820A>G (p.Asp3607Gly) c.4370A>G (p.Asp1457Gly) c.4355A>G (p.Asp1452Gly) c.10856A>G (p.Asp3619Gly) c.4343A>G (p.Asp1448Gly) c.10577A>G (p.Asp3526Gly) c.4295A>G (p.Asp1432Gly) c.4493A>G (p.Asp1498Gly) c.2084A>G (p.Asp695Gly) c.10676A>G (p.Asp3559Gly) c.4565A>G (p.Asp1522Gly) c.10712A>G (p.Asp3571Gly) c.4322A>G (p.Asp1441Gly) c.10514A>G (p.Asp3505Gly) c.4394A>G (p.Asp1465Gly) c.3938A>G (p.Asp1313Gly) c.2069A>G (p.Asp690Gly) c.10490A>G (p.Asp3497Gly) c.2048A>G (p.Asp683Gly) c.10721A>G (p.Asp3574Gly) c.4286A>G (p.Asp1429Gly) c.4028A>G (p.Asp1343Gly) c.10550A>G (p.Asp3517Gly) c.4520A>G (p.Asp1507Gly) c.477A>G c.1805A>G (p.Asp602Gly) n.629A>G c.476A>G (p.Asp159Gly) c.1524A>G c.*2136A>G (n.*2136A>G) c.10808A>G (p.Asp3603Gly) c.4517A>G (p.Asp1506Gly) c.10862A>G (p.Asp3621Gly) c.10826A>G (p.Asp3609Gly) c.4574A>G (p.Asp1525Gly) c.4607A>G (p.Asp1536Gly) c.4538A>G (p.Asp1513Gly) c.10802A>G (p.Asp3601Gly) c.10847A>G (p.Asp3616Gly) c.4532A>G (p.Asp1511Gly) c.4499A>G (p.Asp1500Gly) c.4562A>G (p.Asp1521Gly) c.4418A>G (p.Asp1473Gly) c.4598A>G (p.Asp1533Gly) c.4490A>G (p.Asp1497Gly) c.4454A>G (p.Asp1485Gly) c.4469A>G (p.Asp1490Gly) c.4379A>G (p.Asp1460Gly) c.4307A>G (p.Asp1436Gly) c.4391A>G (p.Asp1464Gly) c.4220A>G (p.Asp1407Gly) c.10892A>G (p.Asp3631Gly) c.10778A>G (p.Asp3593Gly) c.10748A>G (p.Asp3583Gly) c.10811A>G (p.Asp3604Gly) c.10541A>G (p.Asp3514Gly) c.4301A>G (p.Asp1434Gly) c.4346A>G (p.Asp1449Gly) c.4505A>G (p.Asp1502Gly) c.4577A>G (p.Asp1526Gly) c.4037A>G (p.Asp1346Gly) c.4364A>G (p.Asp1455Gly) c.7175A>G (p.Asp2392Gly) c.920A>G (p.Asp307Gly) c.4385A>G (p.Asp1462Gly) | gnomAD v4 |
4 | g.113363356A>T | CA357941202 | ANK2 | c.10916A>T (p.Asp3639Val) c.4601A>T (p.Asp1534Val) c.1202A>T (p.Asp401Val) c.1700A>T (p.Asp567Val) n.2157A>T n.1365A>T n.2109A>T n.938A>T n.3533A>T n.2900A>T n.1274A>T n.7620A>T n.2246A>T n.2664A>T c.10775A>T (p.Asp3592Val) c.10613A>T (p.Asp3538Val) c.1907A>T (p.Asp636Val) c.230A>T (p.Asp77Val) c.4334A>T (p.Asp1445Val) c.4421A>T (p.Asp1474Val) c.4358A>T (p.Asp1453Val) c.4556A>T (p.Asp1519Val) c.4457A>T (p.Asp1486Val) c.10649A>T (p.Asp3550Val) c.4259A>T (p.Asp1420Val) c.*13A>T (n.*13A>T) c.10592A>T (p.Asp3531Val) c.4136A>T (p.Asp1379Val) c.10589A>T (p.Asp3530Val) c.4235A>T (p.Asp1412Val) c.10820A>T (p.Asp3607Val) c.4370A>T (p.Asp1457Val) c.4355A>T (p.Asp1452Val) c.10856A>T (p.Asp3619Val) c.4343A>T (p.Asp1448Val) c.10577A>T (p.Asp3526Val) c.4295A>T (p.Asp1432Val) c.4493A>T (p.Asp1498Val) c.2084A>T (p.Asp695Val) c.10676A>T (p.Asp3559Val) c.4565A>T (p.Asp1522Val) c.10712A>T (p.Asp3571Val) c.4322A>T (p.Asp1441Val) c.10514A>T (p.Asp3505Val) c.4394A>T (p.Asp1465Val) c.3938A>T (p.Asp1313Val) c.2069A>T (p.Asp690Val) c.10490A>T (p.Asp3497Val) c.2048A>T (p.Asp683Val) c.10721A>T (p.Asp3574Val) c.4286A>T (p.Asp1429Val) c.4028A>T (p.Asp1343Val) c.10550A>T (p.Asp3517Val) c.4520A>T (p.Asp1507Val) c.477A>T c.1805A>T (p.Asp602Val) n.629A>T c.476A>T (p.Asp159Val) c.1524A>T c.*2136A>T (n.*2136A>T) c.10808A>T (p.Asp3603Val) c.4517A>T (p.Asp1506Val) c.10862A>T (p.Asp3621Val) c.10826A>T (p.Asp3609Val) c.4574A>T (p.Asp1525Val) c.4607A>T (p.Asp1536Val) c.4538A>T (p.Asp1513Val) c.10802A>T (p.Asp3601Val) c.10847A>T (p.Asp3616Val) c.4532A>T (p.Asp1511Val) c.4499A>T (p.Asp1500Val) c.4562A>T (p.Asp1521Val) c.4418A>T (p.Asp1473Val) c.4598A>T (p.Asp1533Val) c.4490A>T (p.Asp1497Val) c.4454A>T (p.Asp1485Val) c.4469A>T (p.Asp1490Val) c.4379A>T (p.Asp1460Val) c.4307A>T (p.Asp1436Val) c.4391A>T (p.Asp1464Val) c.4220A>T (p.Asp1407Val) c.10892A>T (p.Asp3631Val) c.10778A>T (p.Asp3593Val) c.10748A>T (p.Asp3583Val) c.10811A>T (p.Asp3604Val) c.10541A>T (p.Asp3514Val) c.4301A>T (p.Asp1434Val) c.4346A>T (p.Asp1449Val) c.4505A>T (p.Asp1502Val) c.4577A>T (p.Asp1526Val) c.4037A>T (p.Asp1346Val) c.4364A>T (p.Asp1455Val) c.7175A>T (p.Asp2392Val) c.920A>T (p.Asp307Val) c.4385A>T (p.Asp1462Val) | |
4 | g.113363357T>A | CA357941203 | ANK2 | c.10917T>A (p.Asp3639Glu) c.4602T>A (p.Asp1534Glu) c.1203T>A (p.Asp401Glu) c.1701T>A (p.Asp567Glu) n.2158T>A n.1366T>A n.2110T>A n.939T>A n.3534T>A n.2901T>A n.1275T>A n.7621T>A n.2247T>A n.2665T>A c.10776T>A (p.Asp3592Glu) c.10614T>A (p.Asp3538Glu) c.1908T>A (p.Asp636Glu) c.231T>A (p.Asp77Glu) c.4335T>A (p.Asp1445Glu) c.4422T>A (p.Asp1474Glu) c.4359T>A (p.Asp1453Glu) c.4557T>A (p.Asp1519Glu) c.4458T>A (p.Asp1486Glu) c.10650T>A (p.Asp3550Glu) c.4260T>A (p.Asp1420Glu) c.*14T>A (n.*14T>A) c.10593T>A (p.Asp3531Glu) c.4137T>A (p.Asp1379Glu) c.10590T>A (p.Asp3530Glu) c.4236T>A (p.Asp1412Glu) c.10821T>A (p.Asp3607Glu) c.4371T>A (p.Asp1457Glu) c.4356T>A (p.Asp1452Glu) c.10857T>A (p.Asp3619Glu) c.4344T>A (p.Asp1448Glu) c.10578T>A (p.Asp3526Glu) c.4296T>A (p.Asp1432Glu) c.4494T>A (p.Asp1498Glu) c.2085T>A (p.Asp695Glu) c.10677T>A (p.Asp3559Glu) c.4566T>A (p.Asp1522Glu) c.10713T>A (p.Asp3571Glu) c.4323T>A (p.Asp1441Glu) c.10515T>A (p.Asp3505Glu) c.4395T>A (p.Asp1465Glu) c.3939T>A (p.Asp1313Glu) c.2070T>A (p.Asp690Glu) c.10491T>A (p.Asp3497Glu) c.2049T>A (p.Asp683Glu) c.10722T>A (p.Asp3574Glu) c.4287T>A (p.Asp1429Glu) c.4029T>A (p.Asp1343Glu) c.10551T>A (p.Asp3517Glu) c.4521T>A (p.Asp1507Glu) c.478T>A c.1806T>A (p.Asp602Glu) n.630T>A c.477T>A (p.Asp159Glu) c.1525T>A c.*2137T>A (n.*2137T>A) c.10809T>A (p.Asp3603Glu) c.4518T>A (p.Asp1506Glu) c.10863T>A (p.Asp3621Glu) c.10827T>A (p.Asp3609Glu) c.4575T>A (p.Asp1525Glu) c.4608T>A (p.Asp1536Glu) c.4539T>A (p.Asp1513Glu) c.10803T>A (p.Asp3601Glu) c.10848T>A (p.Asp3616Glu) c.4533T>A (p.Asp1511Glu) c.4500T>A (p.Asp1500Glu) c.4563T>A (p.Asp1521Glu) c.4419T>A (p.Asp1473Glu) c.4599T>A (p.Asp1533Glu) c.4491T>A (p.Asp1497Glu) c.4455T>A (p.Asp1485Glu) c.4470T>A (p.Asp1490Glu) c.4380T>A (p.Asp1460Glu) c.4308T>A (p.Asp1436Glu) c.4392T>A (p.Asp1464Glu) c.4221T>A (p.Asp1407Glu) c.10893T>A (p.Asp3631Glu) c.10779T>A (p.Asp3593Glu) c.10749T>A (p.Asp3583Glu) c.10812T>A (p.Asp3604Glu) c.10542T>A (p.Asp3514Glu) c.4302T>A (p.Asp1434Glu) c.4347T>A (p.Asp1449Glu) c.4506T>A (p.Asp1502Glu) c.4578T>A (p.Asp1526Glu) c.4038T>A (p.Asp1346Glu) c.4365T>A (p.Asp1455Glu) c.7176T>A (p.Asp2392Glu) c.921T>A (p.Asp307Glu) c.4386T>A (p.Asp1462Glu) | |
4 | g.113363357T>C | CA440828906 | ANK2 | c.10917T>C (p.Asp3639=) c.4602T>C (p.Asp1534=) c.1203T>C (p.Asp401=) c.1701T>C (p.Asp567=) n.2158T>C n.1366T>C n.2110T>C n.939T>C n.3534T>C n.2901T>C n.1275T>C n.7621T>C n.2247T>C n.2665T>C c.10776T>C (p.Asp3592=) c.10614T>C (p.Asp3538=) c.1908T>C (p.Asp636=) c.231T>C (p.Asp77=) c.4335T>C (p.Asp1445=) c.4422T>C (p.Asp1474=) c.4359T>C (p.Asp1453=) c.4557T>C (p.Asp1519=) c.4458T>C (p.Asp1486=) c.10650T>C (p.Asp3550=) c.4260T>C (p.Asp1420=) c.*14T>C (n.*14T>C) c.10593T>C (p.Asp3531=) c.4137T>C (p.Asp1379=) c.10590T>C (p.Asp3530=) c.4236T>C (p.Asp1412=) c.10821T>C (p.Asp3607=) c.4371T>C (p.Asp1457=) c.4356T>C (p.Asp1452=) c.10857T>C (p.Asp3619=) c.4344T>C (p.Asp1448=) c.10578T>C (p.Asp3526=) c.4296T>C (p.Asp1432=) c.4494T>C (p.Asp1498=) c.2085T>C (p.Asp695=) c.10677T>C (p.Asp3559=) c.4566T>C (p.Asp1522=) c.10713T>C (p.Asp3571=) c.4323T>C (p.Asp1441=) c.10515T>C (p.Asp3505=) c.4395T>C (p.Asp1465=) c.3939T>C (p.Asp1313=) c.2070T>C (p.Asp690=) c.10491T>C (p.Asp3497=) c.2049T>C (p.Asp683=) c.10722T>C (p.Asp3574=) c.4287T>C (p.Asp1429=) c.4029T>C (p.Asp1343=) c.10551T>C (p.Asp3517=) c.4521T>C (p.Asp1507=) c.478T>C c.1806T>C (p.Asp602=) n.630T>C c.477T>C (p.Asp159=) c.1525T>C c.*2137T>C (n.*2137T>C) c.10809T>C (p.Asp3603=) c.4518T>C (p.Asp1506=) c.10863T>C (p.Asp3621=) c.10827T>C (p.Asp3609=) c.4575T>C (p.Asp1525=) c.4608T>C (p.Asp1536=) c.4539T>C (p.Asp1513=) c.10803T>C (p.Asp3601=) c.10848T>C (p.Asp3616=) c.4533T>C (p.Asp1511=) c.4500T>C (p.Asp1500=) c.4563T>C (p.Asp1521=) c.4419T>C (p.Asp1473=) c.4599T>C (p.Asp1533=) c.4491T>C (p.Asp1497=) c.4455T>C (p.Asp1485=) c.4470T>C (p.Asp1490=) c.4380T>C (p.Asp1460=) c.4308T>C (p.Asp1436=) c.4392T>C (p.Asp1464=) c.4221T>C (p.Asp1407=) c.10893T>C (p.Asp3631=) c.10779T>C (p.Asp3593=) c.10749T>C (p.Asp3583=) c.10812T>C (p.Asp3604=) c.10542T>C (p.Asp3514=) c.4302T>C (p.Asp1434=) c.4347T>C (p.Asp1449=) c.4506T>C (p.Asp1502=) c.4578T>C (p.Asp1526=) c.4038T>C (p.Asp1346=) c.4365T>C (p.Asp1455=) c.7176T>C (p.Asp2392=) c.921T>C (p.Asp307=) c.4386T>C (p.Asp1462=) | |
4 | g.113363357T>G | CA357941204 | ANK2 | c.10917T>G (p.Asp3639Glu) c.4602T>G (p.Asp1534Glu) c.1203T>G (p.Asp401Glu) c.1701T>G (p.Asp567Glu) n.2158T>G n.1366T>G n.2110T>G n.939T>G n.3534T>G n.2901T>G n.1275T>G n.7621T>G n.2247T>G n.2665T>G c.10776T>G (p.Asp3592Glu) c.10614T>G (p.Asp3538Glu) c.1908T>G (p.Asp636Glu) c.231T>G (p.Asp77Glu) c.4335T>G (p.Asp1445Glu) c.4422T>G (p.Asp1474Glu) c.4359T>G (p.Asp1453Glu) c.4557T>G (p.Asp1519Glu) c.4458T>G (p.Asp1486Glu) c.10650T>G (p.Asp3550Glu) c.4260T>G (p.Asp1420Glu) c.*14T>G (n.*14T>G) c.10593T>G (p.Asp3531Glu) c.4137T>G (p.Asp1379Glu) c.10590T>G (p.Asp3530Glu) c.4236T>G (p.Asp1412Glu) c.10821T>G (p.Asp3607Glu) c.4371T>G (p.Asp1457Glu) c.4356T>G (p.Asp1452Glu) c.10857T>G (p.Asp3619Glu) c.4344T>G (p.Asp1448Glu) c.10578T>G (p.Asp3526Glu) c.4296T>G (p.Asp1432Glu) c.4494T>G (p.Asp1498Glu) c.2085T>G (p.Asp695Glu) c.10677T>G (p.Asp3559Glu) c.4566T>G (p.Asp1522Glu) c.10713T>G (p.Asp3571Glu) c.4323T>G (p.Asp1441Glu) c.10515T>G (p.Asp3505Glu) c.4395T>G (p.Asp1465Glu) c.3939T>G (p.Asp1313Glu) c.2070T>G (p.Asp690Glu) c.10491T>G (p.Asp3497Glu) c.2049T>G (p.Asp683Glu) c.10722T>G (p.Asp3574Glu) c.4287T>G (p.Asp1429Glu) c.4029T>G (p.Asp1343Glu) c.10551T>G (p.Asp3517Glu) c.4521T>G (p.Asp1507Glu) c.478T>G c.1806T>G (p.Asp602Glu) n.630T>G c.477T>G (p.Asp159Glu) c.1525T>G c.*2137T>G (n.*2137T>G) c.10809T>G (p.Asp3603Glu) c.4518T>G (p.Asp1506Glu) c.10863T>G (p.Asp3621Glu) c.10827T>G (p.Asp3609Glu) c.4575T>G (p.Asp1525Glu) c.4608T>G (p.Asp1536Glu) c.4539T>G (p.Asp1513Glu) c.10803T>G (p.Asp3601Glu) c.10848T>G (p.Asp3616Glu) c.4533T>G (p.Asp1511Glu) c.4500T>G (p.Asp1500Glu) c.4563T>G (p.Asp1521Glu) c.4419T>G (p.Asp1473Glu) c.4599T>G (p.Asp1533Glu) c.4491T>G (p.Asp1497Glu) c.4455T>G (p.Asp1485Glu) c.4470T>G (p.Asp1490Glu) c.4380T>G (p.Asp1460Glu) c.4308T>G (p.Asp1436Glu) c.4392T>G (p.Asp1464Glu) c.4221T>G (p.Asp1407Glu) c.10893T>G (p.Asp3631Glu) c.10779T>G (p.Asp3593Glu) c.10749T>G (p.Asp3583Glu) c.10812T>G (p.Asp3604Glu) c.10542T>G (p.Asp3514Glu) c.4302T>G (p.Asp1434Glu) c.4347T>G (p.Asp1449Glu) c.4506T>G (p.Asp1502Glu) c.4578T>G (p.Asp1526Glu) c.4038T>G (p.Asp1346Glu) c.4365T>G (p.Asp1455Glu) c.7176T>G (p.Asp2392Glu) c.921T>G (p.Asp307Glu) c.4386T>G (p.Asp1462Glu) | |
4 | g.113363358T>A | CA357941205 | ANK2 | c.10918T>A (p.Phe3640Ile) c.4603T>A (p.Phe1535Ile) c.1204T>A (p.Phe402Ile) c.1702T>A (p.Phe568Ile) n.2159T>A n.1367T>A n.2111T>A n.940T>A n.3535T>A n.2902T>A n.1276T>A n.7622T>A n.2248T>A n.2666T>A c.10777T>A (p.Phe3593Ile) c.10615T>A (p.Phe3539Ile) c.1909T>A (p.Phe637Ile) c.232T>A (p.Phe78Ile) c.4336T>A (p.Phe1446Ile) c.4423T>A (p.Phe1475Ile) c.4360T>A (p.Phe1454Ile) c.4558T>A (p.Phe1520Ile) c.4459T>A (p.Phe1487Ile) c.10651T>A (p.Phe3551Ile) c.4261T>A (p.Phe1421Ile) c.*15T>A (n.*15T>A) c.10594T>A (p.Phe3532Ile) c.4138T>A (p.Phe1380Ile) c.10591T>A (p.Phe3531Ile) c.4237T>A (p.Phe1413Ile) c.10822T>A (p.Phe3608Ile) c.4372T>A (p.Phe1458Ile) c.4357T>A (p.Phe1453Ile) c.10858T>A (p.Phe3620Ile) c.4345T>A (p.Phe1449Ile) c.10579T>A (p.Phe3527Ile) c.4297T>A (p.Phe1433Ile) c.4495T>A (p.Phe1499Ile) c.2086T>A (p.Phe696Ile) c.10678T>A (p.Phe3560Ile) c.4567T>A (p.Phe1523Ile) c.10714T>A (p.Phe3572Ile) c.4324T>A (p.Phe1442Ile) c.10516T>A (p.Phe3506Ile) c.4396T>A (p.Phe1466Ile) c.3940T>A (p.Phe1314Ile) c.2071T>A (p.Phe691Ile) c.10492T>A (p.Phe3498Ile) c.2050T>A (p.Phe684Ile) c.10723T>A (p.Phe3575Ile) c.4288T>A (p.Phe1430Ile) c.4030T>A (p.Phe1344Ile) c.10552T>A (p.Phe3518Ile) c.4522T>A (p.Phe1508Ile) c.479T>A c.1807T>A (p.Phe603Ile) n.631T>A c.478T>A (p.Phe160Ile) c.1526T>A c.*2138T>A (n.*2138T>A) c.10810T>A (p.Phe3604Ile) c.4519T>A (p.Phe1507Ile) c.10864T>A (p.Phe3622Ile) c.10828T>A (p.Phe3610Ile) c.4576T>A (p.Phe1526Ile) c.4609T>A (p.Phe1537Ile) c.4540T>A (p.Phe1514Ile) c.10804T>A (p.Phe3602Ile) c.10849T>A (p.Phe3617Ile) c.4534T>A (p.Phe1512Ile) c.4501T>A (p.Phe1501Ile) c.4564T>A (p.Phe1522Ile) c.4420T>A (p.Phe1474Ile) c.4600T>A (p.Phe1534Ile) c.4492T>A (p.Phe1498Ile) c.4456T>A (p.Phe1486Ile) c.4471T>A (p.Phe1491Ile) c.4381T>A (p.Phe1461Ile) c.4309T>A (p.Phe1437Ile) c.4393T>A (p.Phe1465Ile) c.4222T>A (p.Phe1408Ile) c.10894T>A (p.Phe3632Ile) c.10780T>A (p.Phe3594Ile) c.10750T>A (p.Phe3584Ile) c.10813T>A (p.Phe3605Ile) c.10543T>A (p.Phe3515Ile) c.4303T>A (p.Phe1435Ile) c.4348T>A (p.Phe1450Ile) c.4507T>A (p.Phe1503Ile) c.4579T>A (p.Phe1527Ile) c.4039T>A (p.Phe1347Ile) c.4366T>A (p.Phe1456Ile) c.7177T>A (p.Phe2393Ile) c.922T>A (p.Phe308Ile) c.4387T>A (p.Phe1463Ile) | |
4 | g.113363358T>C | CA357941206 | ANK2 | c.10918T>C (p.Phe3640Leu) c.4603T>C (p.Phe1535Leu) c.1204T>C (p.Phe402Leu) c.1702T>C (p.Phe568Leu) n.2159T>C n.1367T>C n.2111T>C n.940T>C n.3535T>C n.2902T>C n.1276T>C n.7622T>C n.2248T>C n.2666T>C c.10777T>C (p.Phe3593Leu) c.10615T>C (p.Phe3539Leu) c.1909T>C (p.Phe637Leu) c.232T>C (p.Phe78Leu) c.4336T>C (p.Phe1446Leu) c.4423T>C (p.Phe1475Leu) c.4360T>C (p.Phe1454Leu) c.4558T>C (p.Phe1520Leu) c.4459T>C (p.Phe1487Leu) c.10651T>C (p.Phe3551Leu) c.4261T>C (p.Phe1421Leu) c.*15T>C (n.*15T>C) c.10594T>C (p.Phe3532Leu) c.4138T>C (p.Phe1380Leu) c.10591T>C (p.Phe3531Leu) c.4237T>C (p.Phe1413Leu) c.10822T>C (p.Phe3608Leu) c.4372T>C (p.Phe1458Leu) c.4357T>C (p.Phe1453Leu) c.10858T>C (p.Phe3620Leu) c.4345T>C (p.Phe1449Leu) c.10579T>C (p.Phe3527Leu) c.4297T>C (p.Phe1433Leu) c.4495T>C (p.Phe1499Leu) c.2086T>C (p.Phe696Leu) c.10678T>C (p.Phe3560Leu) c.4567T>C (p.Phe1523Leu) c.10714T>C (p.Phe3572Leu) c.4324T>C (p.Phe1442Leu) c.10516T>C (p.Phe3506Leu) c.4396T>C (p.Phe1466Leu) c.3940T>C (p.Phe1314Leu) c.2071T>C (p.Phe691Leu) c.10492T>C (p.Phe3498Leu) c.2050T>C (p.Phe684Leu) c.10723T>C (p.Phe3575Leu) c.4288T>C (p.Phe1430Leu) c.4030T>C (p.Phe1344Leu) c.10552T>C (p.Phe3518Leu) c.4522T>C (p.Phe1508Leu) c.479T>C c.1807T>C (p.Phe603Leu) n.631T>C c.478T>C (p.Phe160Leu) c.1526T>C c.*2138T>C (n.*2138T>C) c.10810T>C (p.Phe3604Leu) c.4519T>C (p.Phe1507Leu) c.10864T>C (p.Phe3622Leu) c.10828T>C (p.Phe3610Leu) c.4576T>C (p.Phe1526Leu) c.4609T>C (p.Phe1537Leu) c.4540T>C (p.Phe1514Leu) c.10804T>C (p.Phe3602Leu) c.10849T>C (p.Phe3617Leu) c.4534T>C (p.Phe1512Leu) c.4501T>C (p.Phe1501Leu) c.4564T>C (p.Phe1522Leu) c.4420T>C (p.Phe1474Leu) c.4600T>C (p.Phe1534Leu) c.4492T>C (p.Phe1498Leu) c.4456T>C (p.Phe1486Leu) c.4471T>C (p.Phe1491Leu) c.4381T>C (p.Phe1461Leu) c.4309T>C (p.Phe1437Leu) c.4393T>C (p.Phe1465Leu) c.4222T>C (p.Phe1408Leu) c.10894T>C (p.Phe3632Leu) c.10780T>C (p.Phe3594Leu) c.10750T>C (p.Phe3584Leu) c.10813T>C (p.Phe3605Leu) c.10543T>C (p.Phe3515Leu) c.4303T>C (p.Phe1435Leu) c.4348T>C (p.Phe1450Leu) c.4507T>C (p.Phe1503Leu) c.4579T>C (p.Phe1527Leu) c.4039T>C (p.Phe1347Leu) c.4366T>C (p.Phe1456Leu) c.7177T>C (p.Phe2393Leu) c.922T>C (p.Phe308Leu) c.4387T>C (p.Phe1463Leu) |