Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.128911911A>C | CA383249443 | KCNJ5 | c.638A>C (p.Glu213Ala) | |
11 | g.128911911A>G | CA383249445 | KCNJ5 | c.638A>G (p.Glu213Gly) | ClinVar |
11 | g.128911911A>T | CA383249447 | KCNJ5 | c.638A>T (p.Glu213Val) | |
11 | g.128911912G>A | CA477703784 | KCNJ5 | c.639G>A (p.Glu213=) | gnomAD v4 |
11 | g.128911912G>C | CA383249449 | KCNJ5 | c.639G>C (p.Glu213Asp) | |
11 | g.128911912G>T | CA383249450 | KCNJ5 | c.639G>T (p.Glu213Asp) | |
11 | g.128911913A>C | CA383249454 | KCNJ5 | c.640A>C (p.Lys214Gln) | |
11 | g.128911913A>G | CA383249456 | KCNJ5 | c.640A>G (p.Lys214Glu) | gnomAD v4 |
11 | g.128911913A>T | CA383249453 | KCNJ5 | c.640A>T (p.Lys214Ter) | |
11 | g.128911914A>C | CA383249462 | KCNJ5 | c.641A>C (p.Lys214Thr) | |
11 | g.128911914A>G | CA383249458 | KCNJ5 | c.641A>G (p.Lys214Arg) | gnomAD v4 |
11 | g.128911914A>T | CA383249460 | KCNJ5 | c.641A>T (p.Lys214Met) | |
11 | g.128911915G>A | CA477703786 | KCNJ5 | c.642G>A (p.Lys214=) | gnomAD v4 |
11 | g.128911915G>C | CA383249464 | KCNJ5 | c.642G>C (p.Lys214Asn) | |
11 | g.128911915G>T | CA383249466 | KCNJ5 | c.642G>T (p.Lys214Asn) | |
11 | g.128911915_128911918del | CA2616775470 | KCNJ5 | c.642_645del (p.Lys214AsnfsTer?) | gnomAD v4 |
11 | g.128911916C>A | CA383249469 | KCNJ5 | c.643C>A (p.Leu215Met) | |
11 | g.128911916C>G | CA383249470 | KCNJ5 | c.643C>G (p.Leu215Val) | gnomAD v4 |
11 | g.128911916C>T | CA477703793 | KCNJ5 | c.643C>T (p.Leu215=) | |
11 | g.128911917T>A | CA383249473 | KCNJ5 | c.644T>A (p.Leu215Gln) | |
11 | g.128911917T>C | CA383249475 | KCNJ5 | c.644T>C (p.Leu215Pro) | |
11 | g.128911917T>G | CA383249476 | KCNJ5 | c.644T>G (p.Leu215Arg) | gnomAD v4 |
11 | g.128911918G>A | CA6357910 | KCNJ5 | c.645G>A (p.Leu215=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128911918G>C | CA477703795 | KCNJ5 | c.645G>C (p.Leu215=) | |
11 | g.128911918G= | CA2008292917 | KCNJ5 | c.645G= (p.Leu215=) | |
11 | g.128911918G>T | CA477703797 | KCNJ5 | c.645G>T (p.Leu215=) | |
11 | g.128911919T>A | CA383249481 | KCNJ5 | c.646T>A (p.Cys216Ser) | gnomAD v4 |
11 | g.128911919T>C | CA383249482 | KCNJ5 | c.646T>C (p.Cys216Arg) | ClinVar |
11 | g.128911919T>G | CA383249484 | KCNJ5 | c.646T>G (p.Cys216Gly) | |
11 | g.128911920G>A | CA383249489 | KCNJ5 | c.647G>A (p.Cys216Tyr) | |
11 | g.128911920G>C | CA383249488 | KCNJ5 | c.647G>C (p.Cys216Ser) | |
11 | g.128911920G>T | CA383249486 | KCNJ5 | c.647G>T (p.Cys216Phe) | |
11 | g.128911921C>A | CA383249492 | KCNJ5 | c.648C>A (p.Cys216Ter) | |
11 | g.128911921C>G | CA383249493 | KCNJ5 | c.648C>G (p.Cys216Trp) | |
11 | g.128911921C>T | CA477703800 | KCNJ5 | c.648C>T (p.Cys216=) | |
11 | g.128911922C>A | CA383249497 | KCNJ5 | c.649C>A (p.Leu217Ile) | |
11 | g.128911922C>G | CA383249498 | KCNJ5 | c.649C>G (p.Leu217Val) | |
11 | g.128911922C>T | CA383249500 | KCNJ5 | c.649C>T (p.Leu217Phe) | |
11 | g.128911923T>A | CA383249503 | KCNJ5 | c.650T>A (p.Leu217His) | |
11 | g.128911923T>C | CA383249505 | KCNJ5 | c.650T>C (p.Leu217Pro) | |
11 | g.128911923T>G | CA383249508 | KCNJ5 | c.650T>G (p.Leu217Arg) | |
11 | g.128911924C>A | CA477703803 | KCNJ5 | c.651C>A (p.Leu217=) | |
11 | g.128911924C>G | CA477703807 | KCNJ5 | c.651C>G (p.Leu217=) | |
11 | g.128911924C>T | CA477703805 | KCNJ5 | c.651C>T (p.Leu217=) | dbSNP |
11 | g.128911925A>C | CA383249510 | KCNJ5 | c.652A>C (p.Met218Leu) | gnomAD v4 |
11 | g.128911925A>G | CA383249511 | KCNJ5 | c.652A>G (p.Met218Val) | |
11 | g.128911925A>T | CA383249513 | KCNJ5 | c.652A>T (p.Met218Leu) | |
11 | g.128911926T>A | CA383249516 | KCNJ5 | c.653T>A (p.Met218Lys) | |
11 | g.128911926T>C | CA383249517 | KCNJ5 | c.653T>C (p.Met218Thr) | gnomAD v4 |
11 | g.128911926T>G | CA383249519 | KCNJ5 | c.653T>G (p.Met218Arg) |