Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.70170730_70175461del | CA1139665860 | KCNJ2 | c.-217+1029_422del c.-217+1873_422del | ClinVar |
17 | g.70175216C>A | CA293702904 | KCNJ2 | c.177C>A (p.Ile59=) | dbSNP |
17 | g.70175216C= | CA2272996478 | KCNJ2 | c.177C= (p.Ile59=) | |
17 | g.70175216C>G | CA400860041 | KCNJ2 | c.177C>G (p.Ile59Met) | |
17 | g.70175216C>T | CA501700321 | KCNJ2 | c.177C>T (p.Ile59=) | |
17 | g.70175217A>C | CA400860042 | KCNJ2 | c.178A>C (p.Asn60His) | gnomAD v4 |
17 | g.70175217A>G | CA400860043 | KCNJ2 | c.178A>G (p.Asn60Asp) | |
17 | g.70175217A>T | CA400860044 | KCNJ2 | c.178A>T (p.Asn60Tyr) | |
17 | g.70175218A= | CA2272996479 | KCNJ2 | c.179A= (p.Asn60=) | |
17 | g.70175218A>C | CA400860045 | KCNJ2 | c.179A>C (p.Asn60Thr) | |
17 | g.70175218A>G | CA400860046 | KCNJ2 | c.179A>G (p.Asn60Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.70175218A>T | CA400860047 | KCNJ2 | c.179A>T (p.Asn60Ile) | gnomAD v4 |
17 | g.70175219T>A | CA400860048 | KCNJ2 | c.180T>A (p.Asn60Lys) | |
17 | g.70175219T>C | CA501700322 | KCNJ2 | c.180T>C (p.Asn60=) | gnomAD v4 |
17 | g.70175219T>G | CA400860049 | KCNJ2 | c.180T>G (p.Asn60Lys) | |
17 | g.70175220G>A | CA400860052 | KCNJ2 | c.181G>A (p.Val61Met) | |
17 | g.70175220G>C | CA400860050 | KCNJ2 | c.181G>C (p.Val61Leu) | |
17 | g.70175220G>T | CA400860051 | KCNJ2 | c.181G>T (p.Val61Leu) | gnomAD v4 |
17 | g.70175221T>A | CA400860053 | KCNJ2 | c.182T>A (p.Val61Glu) | |
17 | g.70175221T>C | CA400860054 | KCNJ2 | c.182T>C (p.Val61Ala) | |
17 | g.70175221T>G | CA400860055 | KCNJ2 | c.182T>G (p.Val61Gly) | |
17 | g.70175222G>A | CA501700325 | KCNJ2 | c.183G>A (p.Val61=) | |
17 | g.70175222G>C | CA501700324 | KCNJ2 | c.183G>C (p.Val61=) | |
17 | g.70175222G>T | CA501700323 | KCNJ2 | c.183G>T (p.Val61=) | |
17 | g.70175223G>A | CA400860056 | KCNJ2 | c.184G>A (p.Gly62Ser) | |
17 | g.70175223G>C | CA400860057 | KCNJ2 | c.184G>C (p.Gly62Arg) | |
17 | g.70175223G>T | CA400860058 | KCNJ2 | c.184G>T (p.Gly62Cys) | |
17 | g.70175224G>A | CA400860059 | KCNJ2 | c.185G>A (p.Gly62Asp) | |
17 | g.70175224G>C | CA400860060 | KCNJ2 | c.185G>C (p.Gly62Ala) | |
17 | g.70175224G>T | CA400860061 | KCNJ2 | c.185G>T (p.Gly62Val) | |
17 | g.70175225T>A | CA501700326 | KCNJ2 | c.186T>A (p.Gly62=) | |
17 | g.70175225T>C | CA501700327 | KCNJ2 | c.186T>C (p.Gly62=) | ClinVar dbSNP gnomAD v4 |
17 | g.70175225T>G | CA501700328 | KCNJ2 | c.186T>G (p.Gly62=) | gnomAD v4 |
17 | g.70175226G>A | CA400860062 | KCNJ2 | c.187G>A (p.Glu63Lys) | dbSNP |
17 | g.70175226G>C | CA400860063 | KCNJ2 | c.187G>C (p.Glu63Gln) | |
17 | g.70175226G>T | CA400860064 | KCNJ2 | c.187G>T (p.Glu63Ter) | COSMIC |
17 | g.70175227A>C | CA400860067 | KCNJ2 | c.188A>C (p.Glu63Ala) | |
17 | g.70175227A>G | CA400860066 | KCNJ2 | c.188A>G (p.Glu63Gly) | COSMIC |
17 | g.70175227A>T | CA400860065 | KCNJ2 | c.188A>T (p.Glu63Val) | |
17 | g.70175228G>A | CA501700329 | KCNJ2 | c.189G>A (p.Glu63=) | gnomAD v4 |
17 | g.70175228G>C | CA400860068 | KCNJ2 | c.189G>C (p.Glu63Asp) | |
17 | g.70175228G>T | CA400860069 | KCNJ2 | c.189G>T (p.Glu63Asp) | |
17 | g.70175229A>C | CA400860070 | KCNJ2 | c.190A>C (p.Lys64Gln) | |
17 | g.70175229A>G | CA400860071 | KCNJ2 | c.190A>G (p.Lys64Glu) | |
17 | g.70175229A>T | CA400860072 | KCNJ2 | c.190A>T (p.Lys64Ter) | |
17 | g.70175230A>C | CA400860073 | KCNJ2 | c.191A>C (p.Lys64Thr) | |
17 | g.70175230A>G | CA400860074 | KCNJ2 | c.191A>G (p.Lys64Arg) | ClinVar dbSNP |
17 | g.70175230A>T | CA400860075 | KCNJ2 | c.191A>T (p.Lys64Met) | |
17 | g.70175231G>A | CA501700330 | KCNJ2 | c.192G>A (p.Lys64=) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.70175231G>C | CA400860076 | KCNJ2 | c.192G>C (p.Lys64Asn) |