Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.128839131T>A | CA383242542 | KCNJ1 | c.1113A>T (p.Lys371Asn) c.1170A>T (p.Lys390Asn) c.1164A>T (p.Lys388Asn) | gnomAD v4 |
11 | g.128839131T>C | CA477702514 | KCNJ1 | c.1113A>G (p.Lys371=) c.1170A>G (p.Lys390=) c.1164A>G (p.Lys388=) | |
11 | g.128839131T>G | CA383242540 | KCNJ1 | c.1113A>C (p.Lys371Asn) c.1170A>C (p.Lys390Asn) c.1164A>C (p.Lys388Asn) | |
11 | g.128839132T>A | CA383242545 | KCNJ1 | c.1112A>T (p.Lys371Ile) c.1169A>T (p.Lys390Ile) c.1163A>T (p.Lys388Ile) | |
11 | g.128839132T>C | CA383242546 | KCNJ1 | c.1112A>G (p.Lys371Arg) c.1169A>G (p.Lys390Arg) c.1163A>G (p.Lys388Arg) | |
11 | g.128839132T>G | CA6357378 | KCNJ1 | c.1112A>C (p.Lys371Thr) c.1169A>C (p.Lys390Thr) c.1163A>C (p.Lys388Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839132T= | CA2008286051 | KCNJ1 | c.1112A= (p.Lys371=) c.1169A= (p.Lys390=) c.1163A= (p.Lys388=) | |
11 | g.128839133T>A | CA383242548 | KCNJ1 | c.1111A>T (p.Lys371Ter) c.1168A>T (p.Lys390Ter) c.1162A>T (p.Lys388Ter) | |
11 | g.128839133T>C | CA383242549 | KCNJ1 | c.1111A>G (p.Lys371Glu) c.1168A>G (p.Lys390Glu) c.1162A>G (p.Lys388Glu) | |
11 | g.128839133T>G | CA383242550 | KCNJ1 | c.1111A>C (p.Lys371Gln) c.1168A>C (p.Lys390Gln) c.1162A>C (p.Lys388Gln) | |
11 | g.128839134G>A | CA477702519 | KCNJ1 | c.1110C>T (p.Thr370=) c.1167C>T (p.Thr389=) c.1161C>T (p.Thr387=) | dbSNP |
11 | g.128839134G>C | CA477702518 | KCNJ1 | c.1110C>G (p.Thr370=) c.1167C>G (p.Thr389=) c.1161C>G (p.Thr387=) | |
11 | g.128839134G= | CA2008286055 | KCNJ1 | c.1110C= (p.Thr370=) c.1167C= (p.Thr389=) c.1161C= (p.Thr387=) | |
11 | g.128839134G>T | CA477702517 | KCNJ1 | c.1110C>A (p.Thr370=) c.1167C>A (p.Thr389=) c.1161C>A (p.Thr387=) | |
11 | g.128839135G>A | CA383242553 | KCNJ1 | c.1109C>T (p.Thr370Ile) c.1166C>T (p.Thr389Ile) c.1160C>T (p.Thr387Ile) | |
11 | g.128839135G>C | CA383242557 | KCNJ1 | c.1109C>G (p.Thr370Ser) c.1166C>G (p.Thr389Ser) c.1160C>G (p.Thr387Ser) | |
11 | g.128839135G>T | CA383242555 | KCNJ1 | c.1109C>A (p.Thr370Asn) c.1166C>A (p.Thr389Asn) c.1160C>A (p.Thr387Asn) | |
11 | g.128839136T>A | CA383242559 | KCNJ1 | c.1108A>T (p.Thr370Ser) c.1165A>T (p.Thr389Ser) c.1159A>T (p.Thr387Ser) | |
11 | g.128839136T>C | CA383242561 | KCNJ1 | c.1108A>G (p.Thr370Ala) c.1165A>G (p.Thr389Ala) c.1159A>G (p.Thr387Ala) | |
11 | g.128839136T>G | CA383242563 | KCNJ1 | c.1108A>C (p.Thr370Pro) c.1165A>C (p.Thr389Pro) c.1159A>C (p.Thr387Pro) | gnomAD v4 |
11 | g.128839137G>A | CA477702521 | KCNJ1 | c.1107C>T (p.Asp369=) c.1164C>T (p.Asp388=) c.1158C>T (p.Asp386=) | |
11 | g.128839137G>C | CA383242565 | KCNJ1 | c.1107C>G (p.Asp369Glu) c.1164C>G (p.Asp388Glu) c.1158C>G (p.Asp386Glu) | |
11 | g.128839137G>T | CA383242567 | KCNJ1 | c.1107C>A (p.Asp369Glu) c.1164C>A (p.Asp388Glu) c.1158C>A (p.Asp386Glu) | |
11 | g.128839138T>A | CA383242570 | KCNJ1 | c.1106A>T (p.Asp369Val) c.1163A>T (p.Asp388Val) c.1157A>T (p.Asp386Val) | |
11 | g.128839138T>C | CA383242571 | KCNJ1 | c.1106A>G (p.Asp369Gly) c.1163A>G (p.Asp388Gly) c.1157A>G (p.Asp386Gly) | |
11 | g.128839138T>G | CA383242572 | KCNJ1 | c.1106A>C (p.Asp369Ala) c.1163A>C (p.Asp388Ala) c.1157A>C (p.Asp386Ala) | |
11 | g.128839139C>A | CA383242575 | KCNJ1 | c.1105G>T (p.Asp369Tyr) c.1162G>T (p.Asp388Tyr) c.1156G>T (p.Asp386Tyr) | |
11 | g.128839139C>G | CA383242576 | KCNJ1 | c.1105G>C (p.Asp369His) c.1162G>C (p.Asp388His) c.1156G>C (p.Asp386His) | |
11 | g.128839139C>T | CA383242578 | KCNJ1 | c.1105G>A (p.Asp369Asn) c.1162G>A (p.Asp388Asn) c.1156G>A (p.Asp386Asn) | |
11 | g.128839140A>C | CA383242580 | KCNJ1 | c.1104T>G (p.Asp368Glu) c.1161T>G (p.Asp387Glu) c.1155T>G (p.Asp385Glu) | |
11 | g.128839140A>G | CA477702525 | KCNJ1 | c.1104T>C (p.Asp368=) c.1161T>C (p.Asp387=) c.1155T>C (p.Asp385=) | |
11 | g.128839140A>T | CA383242582 | KCNJ1 | c.1104T>A (p.Asp368Glu) c.1161T>A (p.Asp387Glu) c.1155T>A (p.Asp385Glu) | |
11 | g.128839141T>A | CA383242585 | KCNJ1 | c.1103A>T (p.Asp368Val) c.1160A>T (p.Asp387Val) c.1154A>T (p.Asp385Val) | dbSNP |
11 | g.128839141T>C | CA383242586 | KCNJ1 | c.1103A>G (p.Asp368Gly) c.1160A>G (p.Asp387Gly) c.1154A>G (p.Asp385Gly) | |
11 | g.128839141T>G | CA383242588 | KCNJ1 | c.1103A>C (p.Asp368Ala) c.1160A>C (p.Asp387Ala) c.1154A>C (p.Asp385Ala) | dbSNP |
11 | g.128839141T= | CA2008286057 | KCNJ1 | c.1103A= (p.Asp368=) c.1160A= (p.Asp387=) c.1154A= (p.Asp385=) | |
11 | g.128839142C>A | CA383242590 | KCNJ1 | c.1102G>T (p.Asp368Tyr) c.1159G>T (p.Asp387Tyr) c.1153G>T (p.Asp385Tyr) | |
11 | g.128839142C= | CA2008286059 | KCNJ1 | c.1102G= (p.Asp368=) c.1159G= (p.Asp387=) c.1153G= (p.Asp385=) | |
11 | g.128839142C>G | CA383242591 | KCNJ1 | c.1102G>C (p.Asp368His) c.1159G>C (p.Asp387His) c.1153G>C (p.Asp385His) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.128839142C>T | CA383242593 | KCNJ1 | c.1102G>A (p.Asp368Asn) c.1159G>A (p.Asp387Asn) c.1153G>A (p.Asp385Asn) | |
11 | g.128839143T>A | CA477702526 | KCNJ1 | c.1101A>T (p.Thr367=) c.1158A>T (p.Thr386=) c.1152A>T (p.Thr384=) | |
11 | g.128839143T>C | CA230627521 | KCNJ1 | c.1101A>G (p.Thr367=) c.1158A>G (p.Thr386=) c.1152A>G (p.Thr384=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839143T>G | CA477702527 | KCNJ1 | c.1101A>C (p.Thr367=) c.1158A>C (p.Thr386=) c.1152A>C (p.Thr384=) | |
11 | g.128839143T= | CA2008286062 | KCNJ1 | c.1101A= (p.Thr367=) c.1158A= (p.Thr386=) c.1152A= (p.Thr384=) | |
11 | g.128839144G>A | CA230627528 | KCNJ1 | c.1100C>T (p.Thr367Ile) c.1157C>T (p.Thr386Ile) c.1151C>T (p.Thr384Ile) | dbSNP gnomAD v4 COSMIC |
11 | g.128839144G>C | CA383242596 | KCNJ1 | c.1100C>G (p.Thr367Arg) c.1157C>G (p.Thr386Arg) c.1151C>G (p.Thr384Arg) | gnomAD v4 |
11 | g.128839144G= | CA2008286064 | KCNJ1 | c.1100C= (p.Thr367=) c.1157C= (p.Thr386=) c.1151C= (p.Thr384=) | |
11 | g.128839144G>T | CA383242598 | KCNJ1 | c.1100C>A (p.Thr367Lys) c.1157C>A (p.Thr386Lys) c.1151C>A (p.Thr384Lys) | |
11 | g.128839145T>A | CA383242601 | KCNJ1 | c.1099A>T (p.Thr367Ser) c.1156A>T (p.Thr386Ser) c.1150A>T (p.Thr384Ser) | gnomAD v4 |
11 | g.128839145T>C | CA383242603 | KCNJ1 | c.1099A>G (p.Thr367Ala) c.1156A>G (p.Thr386Ala) c.1150A>G (p.Thr384Ala) |