| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.70170730_70175461del | CA1139665860 | KCNJ2 | c.-217+1029_422del c.-217+1873_422del | ClinVar |
| 17 | g.70175446C>A | CA400860533 | KCNJ2 | c.407C>A (p.Ser136Tyr) | |
| 17 | g.70175446C= | CA2272996565 | KCNJ2 | c.407C= (p.Ser136=) | |
| 17 | g.70175446C>G | CA400860534 | KCNJ2 | c.407C>G (p.Ser136Cys) | |
| 17 | g.70175446C>T | CA329663 | KCNJ2 | c.407C>T (p.Ser136Phe) | ClinVar dbSNP COSMIC |
| 17 | g.70175446_70175448delinsCCA | CA2272996566 | KCNJ2 | c.407_409delinsCCA (p.Ser136=) | |
| 17 | g.70175446_70175448delinsTTT | CA350368 | KCNJ2 | c.407_409delinsTTT (p.Ser136_Ile137delinsPhePhe) | ClinVar dbSNP |
| 17 | g.70175447C>A | CA501700587 | KCNJ2 | c.408C>A (p.Ser136=) | |
| 17 | g.70175447C>G | CA501700588 | KCNJ2 | c.408C>G (p.Ser136=) | |
| 17 | g.70175447C>T | CA501700589 | KCNJ2 | c.408C>T (p.Ser136=) | COSMIC |
| 17 | g.70175448A>C | CA400860537 | KCNJ2 | c.409A>C (p.Ile137Leu) | |
| 17 | g.70175448A>G | CA400860535 | KCNJ2 | c.409A>G (p.Ile137Val) | gnomAD v4 |
| 17 | g.70175448A>T | CA400860536 | KCNJ2 | c.409A>T (p.Ile137Phe) | |
| 17 | g.70175449T>A | CA400860538 | KCNJ2 | c.410T>A (p.Ile137Asn) | ClinVar dbSNP |
| 17 | g.70175449T>C | CA8738724 | KCNJ2 | c.410T>C (p.Ile137Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.70175449T>G | CA400860539 | KCNJ2 | c.410T>G (p.Ile137Ser) | |
| 17 | g.70175449T= | CA2272996567 | KCNJ2 | c.410T= (p.Ile137=) | |
| 17 | g.70175450T>A | CA501700590 | KCNJ2 | c.411T>A (p.Ile137=) | |
| 17 | g.70175450T>C | CA8738725 | KCNJ2 | c.411T>C (p.Ile137=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.70175450T>G | CA400860540 | KCNJ2 | c.411T>G (p.Ile137Met) | |
| 17 | g.70175450T= | CA2272996568 | KCNJ2 | c.411T= (p.Ile137=) | |
| 17 | g.70175451G>A | CA400860541 | KCNJ2 | c.412G>A (p.Glu138Lys) | |
| 17 | g.70175451G>C | CA400860542 | KCNJ2 | c.412G>C (p.Glu138Gln) | COSMIC |
| 17 | g.70175451G>T | CA400860543 | KCNJ2 | c.412G>T (p.Glu138Ter) | |
| 17 | g.70175452A>C | CA400860544 | KCNJ2 | c.413A>C (p.Glu138Ala) | |
| 17 | g.70175452A>G | CA400860545 | KCNJ2 | c.413A>G (p.Glu138Gly) | |
| 17 | g.70175452A>T | CA400860546 | KCNJ2 | c.413A>T (p.Glu138Val) | |
| 17 | g.70175453G>A | CA501700597 | KCNJ2 | c.414G>A (p.Glu138=) | |
| 17 | g.70175453G>C | CA400860548 | KCNJ2 | c.414G>C (p.Glu138Asp) | |
| 17 | g.70175453G>T | CA400860547 | KCNJ2 | c.414G>T (p.Glu138Asp) | |
| 17 | g.70175454A>C | CA400860549 | KCNJ2 | c.415A>C (p.Thr139Pro) | |
| 17 | g.70175454A>G | CA400860550 | KCNJ2 | c.415A>G (p.Thr139Ala) | |
| 17 | g.70175454A>T | CA400860551 | KCNJ2 | c.415A>T (p.Thr139Ser) | |
| 17 | g.70175455C>A | CA400860552 | KCNJ2 | c.416C>A (p.Thr139Asn) | |
| 17 | g.70175455C= | CA2272996569 | KCNJ2 | c.416C= (p.Thr139=) | |
| 17 | g.70175455C>G | CA400860553 | KCNJ2 | c.416C>G (p.Thr139Ser) | |
| 17 | g.70175455C>T | CA16615918 | KCNJ2 | c.416C>T (p.Thr139Ile) | ClinVar dbSNP |
| 17 | g.70175456C>A | CA8738726 | KCNJ2 | c.417C>A (p.Thr139=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.70175456C= | CA2272996570 | KCNJ2 | c.417C= (p.Thr139=) | |
| 17 | g.70175456C>G | CA501700602 | KCNJ2 | c.417C>G (p.Thr139=) | |
| 17 | g.70175456C>T | CA8738727 | KCNJ2 | c.417C>T (p.Thr139=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.70175457C>A | CA400860554 | KCNJ2 | c.418C>A (p.Gln140Lys) | |
| 17 | g.70175457C>G | CA400860555 | KCNJ2 | c.418C>G (p.Gln140Glu) | |
| 17 | g.70175457C>T | CA400860556 | KCNJ2 | c.418C>T (p.Gln140Ter) | |
| 17 | g.70175458A>C | CA400860557 | KCNJ2 | c.419A>C (p.Gln140Pro) | |
| 17 | g.70175458A>G | CA400860558 | KCNJ2 | c.419A>G (p.Gln140Arg) | |
| 17 | g.70175458A>T | CA400860559 | KCNJ2 | c.419A>T (p.Gln140Leu) | |
| 17 | g.70175459G>A | CA501700605 | KCNJ2 | c.420G>A (p.Gln140=) | |
| 17 | g.70175459G>C | CA400860560 | KCNJ2 | c.420G>C (p.Gln140His) | |
| 17 | g.70175459G>T | CA400860561 | KCNJ2 | c.420G>T (p.Gln140His) |