Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.70170730_70175461del | CA1139665860 | KCNJ2 | c.-217+1029_422del c.-217+1873_422del | ClinVar |
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) | |
17 | g.70175068G>A | CA400859700 | KCNJ2 | c.29G>A (p.Ser10Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70175068G>C | CA400859701 | KCNJ2 | c.29G>C (p.Ser10Thr) | |
17 | g.70175068G= | CA2272996414 | KCNJ2 | c.29G= (p.Ser10=) | |
17 | g.70175068G>T | CA400859702 | KCNJ2 | c.29G>T (p.Ser10Ile) | |
17 | g.70175069C>A | CA400859703 | KCNJ2 | c.30C>A (p.Ser10Arg) | |
17 | g.70175069C>G | CA400859704 | KCNJ2 | c.30C>G (p.Ser10Arg) | |
17 | g.70175069C>T | CA501700105 | KCNJ2 | c.30C>T (p.Ser10=) | |
17 | g.70175070A= | CA2272996415 | KCNJ2 | c.31A= (p.Ile11=) | |
17 | g.70175070A>C | CA400859706 | KCNJ2 | c.31A>C (p.Ile11Leu) | |
17 | g.70175070A>G | CA293702896 | KCNJ2 | c.31A>G (p.Ile11Val) | ClinVar dbSNP |
17 | g.70175070A>T | CA400859705 | KCNJ2 | c.31A>T (p.Ile11Phe) | |
17 | g.70175071T>A | CA400859707 | KCNJ2 | c.32T>A (p.Ile11Asn) | |
17 | g.70175071T>C | CA400859708 | KCNJ2 | c.32T>C (p.Ile11Thr) | |
17 | g.70175071T>G | CA400859709 | KCNJ2 | c.32T>G (p.Ile11Ser) | |
17 | g.70175072C>A | CA501700109 | KCNJ2 | c.33C>A (p.Ile11=) | |
17 | g.70175072C= | CA2272996416 | KCNJ2 | c.33C= (p.Ile11=) | |
17 | g.70175072C>G | CA400859710 | KCNJ2 | c.33C>G (p.Ile11Met) | |
17 | g.70175072C>T | CA501700110 | KCNJ2 | c.33C>T (p.Ile11=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
17 | g.70175073G>A | CA400859711 | KCNJ2 | c.34G>A (p.Val12Ile) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
17 | g.70175073G>C | CA400859712 | KCNJ2 | c.34G>C (p.Val12Leu) |