Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.70170730_70175461del | CA1139665860 | KCNJ2 | c.-217+1029_422del c.-217+1873_422del | ClinVar |
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) | |
17 | g.70175059A>T | CA400859500 | KCNJ2 | c.20A>T (p.Asn7Ile) | |
17 | g.70175060C>A | CA400859501 | KCNJ2 | c.21C>A (p.Asn7Lys) | |
17 | g.70175060C= | CA2272996409 | KCNJ2 | c.21C= (p.Asn7=) | |
17 | g.70175060C>G | CA400859502 | KCNJ2 | c.21C>G (p.Asn7Lys) | ClinVar |
17 | g.70175060C>T | CA501682292 | KCNJ2 | c.21C>T (p.Asn7=) | dbSNP |
17 | g.70175061C>A | CA400859503 | KCNJ2 | c.22C>A (p.Arg8Ser) | gnomAD v4 |
17 | g.70175061C= | CA2272996410 | KCNJ2 | c.22C= (p.Arg8=) | |
17 | g.70175061C>G | CA400859504 | KCNJ2 | c.22C>G (p.Arg8Gly) | |
17 | g.70175061C>T | CA8738680 | KCNJ2 | c.22C>T (p.Arg8Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70175062G>A | CA8738681 | KCNJ2 | c.23G>A (p.Arg8His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70175062G>C | CA400859505 | KCNJ2 | c.23G>C (p.Arg8Pro) | |
17 | g.70175062G= | CA2272996411 | KCNJ2 | c.23G= (p.Arg8=) | |
17 | g.70175062G>T | CA400859506 | KCNJ2 | c.23G>T (p.Arg8Leu) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.70175063C>A | CA501682293 | KCNJ2 | c.24C>A (p.Arg8=) | gnomAD v4 |
17 | g.70175063C= | CA2272996412 | KCNJ2 | c.24C= (p.Arg8=) | |
17 | g.70175063C>G | CA501682294 | KCNJ2 | c.24C>G (p.Arg8=) | |
17 | g.70175063C>T | CA8738682 | KCNJ2 | c.24C>T (p.Arg8=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70175064T>A | CA400859509 | KCNJ2 | c.25T>A (p.Tyr9Asn) | |
17 | g.70175064T>C | CA400859507 | KCNJ2 | c.25T>C (p.Tyr9His) | |
17 | g.70175064T>G | CA400859508 | KCNJ2 | c.25T>G (p.Tyr9Asp) | |
17 | g.70175065A>C | CA400859510 | KCNJ2 | c.26A>C (p.Tyr9Ser) | |
17 | g.70175065A>G | CA400859511 | KCNJ2 | c.26A>G (p.Tyr9Cys) | |
17 | g.70175065A>T | CA400859512 | KCNJ2 | c.26A>T (p.Tyr9Phe) | |
17 | g.70175066C>A | CA400859513 | KCNJ2 | c.27C>A (p.Tyr9Ter) | |
17 | g.70175066C>G | CA400859514 | KCNJ2 | c.27C>G (p.Tyr9Ter) | |
17 | g.70175066C>T | CA501682295 | KCNJ2 | c.27C>T (p.Tyr9=) | gnomAD v4 |
17 | g.70175067A= | CA2272996413 | KCNJ2 | c.28A= (p.Ser10=) | |
17 | g.70175067A>C | CA400859515 | KCNJ2 | c.28A>C (p.Ser10Arg) | |
17 | g.70175067A>G | CA400859516 | KCNJ2 | c.28A>G (p.Ser10Gly) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.70175067A>T | CA400859517 | KCNJ2 | c.28A>T (p.Ser10Cys) |