Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.70170730_70175461del | CA1139665860 | KCNJ2 | c.-217+1029_422del c.-217+1873_422del | ClinVar |
17 | g.70175046A>C | CA400859474 | KCNJ2 | c.7A>C (p.Ser3Arg) | |
17 | g.70175046A>G | CA400859476 | KCNJ2 | c.7A>G (p.Ser3Gly) | |
17 | g.70175046A>T | CA400859475 | KCNJ2 | c.7A>T (p.Ser3Cys) | |
17 | g.70175047G>A | CA400859477 | KCNJ2 | c.8G>A (p.Ser3Asn) | |
17 | g.70175047G>C | CA400859478 | KCNJ2 | c.8G>C (p.Ser3Thr) | ClinVar |
17 | g.70175047G>T | CA400859479 | KCNJ2 | c.8G>T (p.Ser3Ile) | |
17 | g.70175048T>A | CA400859480 | KCNJ2 | c.9T>A (p.Ser3Arg) | |
17 | g.70175048T>C | CA501682282 | KCNJ2 | c.9T>C (p.Ser3=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.70175048T>G | CA400859481 | KCNJ2 | c.9T>G (p.Ser3Arg) | gnomAD v4 |
17 | g.70175048T= | CA2272996401 | KCNJ2 | c.9T= (p.Ser3=) | |
17 | g.70175049G>A | CA8738677 | KCNJ2 | c.10G>A (p.Val4Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.70175049G>C | CA400859483 | KCNJ2 | c.10G>C (p.Val4Leu) | |
17 | g.70175049G= | CA2272996402 | KCNJ2 | c.10G= (p.Val4=) | |
17 | g.70175049G>T | CA400859482 | KCNJ2 | c.10G>T (p.Val4Leu) | |
17 | g.70175050T>A | CA400859484 | KCNJ2 | c.11T>A (p.Val4Glu) | dbSNP |
17 | g.70175050T>C | CA400859485 | KCNJ2 | c.11T>C (p.Val4Ala) | |
17 | g.70175050T>G | CA400859486 | KCNJ2 | c.11T>G (p.Val4Gly) | |
17 | g.70175050T= | CA2272996403 | KCNJ2 | c.11T= (p.Val4=) | |
17 | g.70175051G>A | CA501682283 | KCNJ2 | c.12G>A (p.Val4=) | dbSNP |
17 | g.70175051G>C | CA501682284 | KCNJ2 | c.12G>C (p.Val4=) | |
17 | g.70175051G= | CA2272996404 | KCNJ2 | c.12G= (p.Val4=) | |
17 | g.70175051G>T | CA501682285 | KCNJ2 | c.12G>T (p.Val4=) | |
17 | g.70175052C>A | CA293702894 | KCNJ2 | c.13C>A (p.Arg5=) | dbSNP gnomAD v4 |
17 | g.70175052C= | CA2272996405 | KCNJ2 | c.13C= (p.Arg5=) | |
17 | g.70175052C>G | CA293702895 | KCNJ2 | c.13C>G (p.Arg5Gly) | ClinVar dbSNP |
17 | g.70175052C>T | CA400859487 | KCNJ2 | c.13C>T (p.Arg5Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.70175053G>A | CA8738678 | KCNJ2 | c.14G>A (p.Arg5Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.70175053G>C | CA400859488 | KCNJ2 | c.14G>C (p.Arg5Pro) | |
17 | g.70175053G= | CA2272996406 | KCNJ2 | c.14G= (p.Arg5=) | |
17 | g.70175053G>T | CA400859489 | KCNJ2 | c.14G>T (p.Arg5Leu) | gnomAD v4 COSMIC |
17 | g.70175054A>C | CA501682286 | KCNJ2 | c.15A>C (p.Arg5=) | |
17 | g.70175054A>G | CA501682287 | KCNJ2 | c.15A>G (p.Arg5=) | |
17 | g.70175054A>T | CA501682288 | KCNJ2 | c.15A>T (p.Arg5=) | |
17 | g.70175055A= | CA2272996407 | KCNJ2 | c.16A= (p.Thr6=) | |
17 | g.70175055A>C | CA400859490 | KCNJ2 | c.16A>C (p.Thr6Pro) | dbSNP |
17 | g.70175055A>G | CA400859491 | KCNJ2 | c.16A>G (p.Thr6Ala) | gnomAD v4 |
17 | g.70175055A>T | CA400859492 | KCNJ2 | c.16A>T (p.Thr6Ser) | |
17 | g.70175056C>A | CA400859493 | KCNJ2 | c.17C>A (p.Thr6Asn) | |
17 | g.70175056C= | CA2272996408 | KCNJ2 | c.17C= (p.Thr6=) | |
17 | g.70175056C>G | CA400859494 | KCNJ2 | c.17C>G (p.Thr6Ser) | gnomAD v4 |
17 | g.70175056C>T | CA8738679 | KCNJ2 | c.17C>T (p.Thr6Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.70175057C>A | CA501682289 | KCNJ2 | c.18C>A (p.Thr6=) | ClinVar dbSNP gnomAD v4 COSMIC |
17 | g.70175057C>G | CA501682290 | KCNJ2 | c.18C>G (p.Thr6=) | |
17 | g.70175057C>T | CA501682291 | KCNJ2 | c.18C>T (p.Thr6=) | |
17 | g.70175058A>C | CA400859495 | KCNJ2 | c.19A>C (p.Asn7His) | |
17 | g.70175058A>G | CA400859497 | KCNJ2 | c.19A>G (p.Asn7Asp) | |
17 | g.70175058A>T | CA400859496 | KCNJ2 | c.19A>T (p.Asn7Tyr) | |
17 | g.70175059A>C | CA400859498 | KCNJ2 | c.20A>C (p.Asn7Thr) | |
17 | g.70175059A>G | CA400859499 | KCNJ2 | c.20A>G (p.Asn7Ser) |