Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.128911915_128911918del | CA2616775470 | KCNJ5 | c.642_645del (p.Lys214AsnfsTer?) | 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) | |
11 | g.128911927G>A | CA6357911 | KCNJ5 | c.654G>A (p.Met218Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.128911927G>C | CA383249525 | KCNJ5 | c.654G>C (p.Met218Ile) | |
11 | g.128911927G= | CA2008292924 | KCNJ5 | c.654G= (p.Met218=) | |
11 | g.128911927G>T | CA383249522 | KCNJ5 | c.654G>T (p.Met218Ile) | |
11 | g.128911928T>A | CA383249527 | KCNJ5 | c.655T>A (p.Phe219Ile) | |
11 | g.128911928T>C | CA383249529 | KCNJ5 | c.655T>C (p.Phe219Leu) | dbSNP |
11 | g.128911928T>G | CA383249531 | KCNJ5 | c.655T>G (p.Phe219Val) | gnomAD v4 |
11 | g.128911929T>A | CA383249532 | KCNJ5 | c.656T>A (p.Phe219Tyr) | |
11 | g.128911929T>C | CA383249533 | KCNJ5 | c.656T>C (p.Phe219Ser) | |
11 | g.128911929T>G | CA383249535 | KCNJ5 | c.656T>G (p.Phe219Cys) | |
11 | g.128911930C>A | CA383249537 | KCNJ5 | c.657C>A (p.Phe219Leu) | |
11 | g.128911930C>G | CA383249538 | KCNJ5 | c.657C>G (p.Phe219Leu) | |
11 | g.128911930C>T | CA477703812 | KCNJ5 | c.657C>T (p.Phe219=) | COSMIC |
11 | g.128911931C>A | CA477703814 | KCNJ5 | c.658C>A (p.Arg220=) | |
11 | g.128911931C= | CA2008292928 | KCNJ5 | c.658C= (p.Arg220=) | |
11 | g.128911931C>G | CA383249541 | KCNJ5 | c.658C>G (p.Arg220Gly) | |
11 | g.128911931C>T | CA339190 | KCNJ5 | c.658C>T (p.Arg220Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
11 | g.128911932G>A | CA6357912 | KCNJ5 | c.659G>A (p.Arg220Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
11 | g.128911932G>C | CA383249545 | KCNJ5 | c.659G>C (p.Arg220Pro) | |
11 | g.128911932G= | CA2008292936 | KCNJ5 | c.659G= (p.Arg220=) | |
11 | g.128911932G>T | CA383249547 | KCNJ5 | c.659G>T (p.Arg220Leu) | ClinVar dbSNP gnomAD v4 |