| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.113360849G>A | CA329720 | ANK2 | c.10849G>A (p.Glu3617Lys) c.4534G>A (p.Glu1512Lys) c.1135G>A (p.Glu379Lys) c.1633G>A (p.Glu545Lys) n.2090G>A n.1298G>A n.2042G>A n.871G>A n.3466G>A n.2833G>A n.1207G>A n.7553G>A n.2179G>A n.2597G>A c.10708G>A (p.Glu3570Lys) c.10546G>A (p.Glu3516Lys) c.1840G>A (p.Glu614Lys) c.163G>A (p.Glu55Lys) c.4267G>A (p.Glu1423Lys) c.4354G>A (p.Glu1452Lys) c.4291G>A (p.Glu1431Lys) c.4489G>A (p.Glu1497Lys) c.4390G>A (p.Glu1464Lys) c.10582G>A (p.Glu3528Lys) c.4192G>A (p.Glu1398Lys) c.4269G>A (p.Ser1423=) c.10525G>A (p.Glu3509Lys) c.4069G>A (p.Glu1357Lys) c.10522G>A (p.Glu3508Lys) c.4168G>A (p.Glu1390Lys) c.10753G>A (p.Glu3585Lys) c.4303G>A (p.Glu1435Lys) c.4288G>A (p.Glu1430Lys) c.10789G>A (p.Glu3597Lys) c.4276G>A (p.Glu1426Lys) c.10510G>A (p.Glu3504Lys) c.4228G>A (p.Glu1410Lys) c.4426G>A (p.Glu1476Lys) c.2017G>A (p.Glu673Lys) c.10609G>A (p.Glu3537Lys) c.4498G>A (p.Glu1500Lys) c.10645G>A (p.Glu3549Lys) c.4255G>A (p.Glu1419Lys) c.10447G>A (p.Glu3483Lys) c.4327G>A (p.Glu1443Lys) c.3871G>A (p.Glu1291Lys) c.2002G>A (p.Glu668Lys) c.10423G>A (p.Glu3475Lys) c.1981G>A (p.Glu661Lys) c.10654G>A (p.Glu3552Lys) c.4219G>A (p.Glu1407Lys) c.3961G>A (p.Glu1321Lys) c.1959G>A (p.Ser653=) c.10483G>A (p.Glu3495Lys) c.4453G>A (p.Glu1485Lys) c.410G>A c.1738G>A (p.Glu580Lys) n.562G>A c.409G>A (p.Glu137Lys) c.1457G>A c.*2069G>A (n.*2069G>A) c.10741G>A (p.Glu3581Lys) c.4450G>A (p.Glu1484Lys) c.10795G>A (p.Glu3599Lys) c.10759G>A (p.Glu3587Lys) c.4507G>A (p.Glu1503Lys) c.4540G>A (p.Glu1514Lys) c.4471G>A (p.Glu1491Lys) c.10735G>A (p.Glu3579Lys) c.10780G>A (p.Glu3594Lys) c.4465G>A (p.Glu1489Lys) c.4432G>A (p.Glu1478Lys) c.4495G>A (p.Glu1499Lys) c.4351G>A (p.Glu1451Lys) c.4531G>A (p.Glu1511Lys) c.4423G>A (p.Glu1475Lys) c.4387G>A (p.Glu1463Lys) c.4402G>A (p.Glu1468Lys) c.4312G>A (p.Glu1438Lys) c.4240G>A (p.Glu1414Lys) c.4324G>A (p.Glu1442Lys) c.4153G>A (p.Glu1385Lys) c.10825G>A (p.Glu3609Lys) c.10711G>A (p.Glu3571Lys) c.10681G>A (p.Glu3561Lys) c.10744G>A (p.Glu3582Lys) c.10474G>A (p.Glu3492Lys) c.4234G>A (p.Glu1412Lys) c.4279G>A (p.Glu1427Lys) c.4438G>A (p.Glu1480Lys) c.4510G>A (p.Glu1504Lys) c.3970G>A (p.Glu1324Lys) c.4297G>A (p.Glu1433Lys) c.7108G>A (p.Glu2370Lys) c.853G>A (p.Glu285Lys) c.4318G>A (p.Glu1440Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.113360849G= | CA3111576719 | ANK2 | c.10849G= (p.Glu3617=) c.4534G= (p.Glu1512=) c.1135G= (p.Glu379=) c.1633G= (p.Glu545=) n.2090G= n.1298G= n.2042G= n.871G= n.3466G= n.2833G= n.1207G= n.7553G= n.2179G= n.2597G= c.10708G= (p.Glu3570=) c.10546G= (p.Glu3516=) c.1840G= (p.Glu614=) c.163G= (p.Glu55=) c.4267G= (p.Glu1423=) c.4354G= (p.Glu1452=) c.4291G= (p.Glu1431=) c.4489G= (p.Glu1497=) c.4390G= (p.Glu1464=) c.10582G= (p.Glu3528=) c.4192G= (p.Glu1398=) c.4269G= (p.Ser1423=) c.10525G= (p.Glu3509=) c.4069G= (p.Glu1357=) c.10522G= (p.Glu3508=) c.4168G= (p.Glu1390=) c.10753G= (p.Glu3585=) c.4303G= (p.Glu1435=) c.4288G= (p.Glu1430=) c.10789G= (p.Glu3597=) c.4276G= (p.Glu1426=) c.10510G= (p.Glu3504=) c.4228G= (p.Glu1410=) c.4426G= (p.Glu1476=) c.2017G= (p.Glu673=) c.10609G= (p.Glu3537=) c.4498G= (p.Glu1500=) c.10645G= (p.Glu3549=) c.4255G= (p.Glu1419=) c.10447G= (p.Glu3483=) c.4327G= (p.Glu1443=) c.3871G= (p.Glu1291=) c.2002G= (p.Glu668=) c.10423G= (p.Glu3475=) c.1981G= (p.Glu661=) c.10654G= (p.Glu3552=) c.4219G= (p.Glu1407=) c.3961G= (p.Glu1321=) c.1959G= (p.Ser653=) c.10483G= (p.Glu3495=) c.4453G= (p.Glu1485=) c.410G= c.1738G= (p.Glu580=) n.562G= c.409G= (p.Glu137=) c.1457G= c.*2069G= (n.*2069G=) c.10741G= (p.Glu3581=) c.4450G= (p.Glu1484=) c.10795G= (p.Glu3599=) c.10759G= (p.Glu3587=) c.4507G= (p.Glu1503=) c.4540G= (p.Glu1514=) c.4471G= (p.Glu1491=) c.10735G= (p.Glu3579=) c.10780G= (p.Glu3594=) c.4465G= (p.Glu1489=) c.4432G= (p.Glu1478=) c.4495G= (p.Glu1499=) c.4351G= (p.Glu1451=) c.4531G= (p.Glu1511=) c.4423G= (p.Glu1475=) c.4387G= (p.Glu1463=) c.4402G= (p.Glu1468=) c.4312G= (p.Glu1438=) c.4240G= (p.Glu1414=) c.4324G= (p.Glu1442=) c.4153G= (p.Glu1385=) c.10825G= (p.Glu3609=) c.10711G= (p.Glu3571=) c.10681G= (p.Glu3561=) c.10744G= (p.Glu3582=) c.10474G= (p.Glu3492=) c.4234G= (p.Glu1412=) c.4279G= (p.Glu1427=) c.4438G= (p.Glu1480=) c.4510G= (p.Glu1504=) c.3970G= (p.Glu1324=) c.4297G= (p.Glu1433=) c.7108G= (p.Glu2370=) c.853G= (p.Glu285=) c.4318G= (p.Glu1440=) | dbSNP |