Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.70170730_70175461del | CA1139665860 | KCNJ2 | c.-217+1029_422del c.-217+1873_422del | ClinVar |
17 | g.70175210G>A | CA501700320 | KCNJ2 | c.171G>A (p.Gln57=) | |
17 | g.70175210G>C | CA400860026 | KCNJ2 | c.171G>C (p.Gln57His) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.70175210G= | CA2272996474 | KCNJ2 | c.171G= (p.Gln57=) | |
17 | g.70175210G>T | CA400860027 | KCNJ2 | c.171G>T (p.Gln57His) | ClinVar |
17 | g.70175211T>A | CA400860030 | KCNJ2 | c.172T>A (p.Phe58Ile) | dbSNP gnomAD v4 |
17 | g.70175211T>C | CA400860029 | KCNJ2 | c.172T>C (p.Phe58Leu) | |
17 | g.70175211T>G | CA400860028 | KCNJ2 | c.172T>G (p.Phe58Val) | |
17 | g.70175211T= | CA2272996475 | KCNJ2 | c.172T= (p.Phe58=) | |
17 | g.70175212T>A | CA400860031 | KCNJ2 | c.173T>A (p.Phe58Tyr) | |
17 | g.70175212T>C | CA400860032 | KCNJ2 | c.173T>C (p.Phe58Ser) | |
17 | g.70175212T>G | CA400860033 | KCNJ2 | c.173T>G (p.Phe58Cys) | |
17 | g.70175213C>A | CA400860034 | KCNJ2 | c.174C>A (p.Phe58Leu) | |
17 | g.70175213C= | CA2272996476 | KCNJ2 | c.174C= (p.Phe58=) | |
17 | g.70175213C>G | CA400860035 | KCNJ2 | c.174C>G (p.Phe58Leu) | |
17 | g.70175213C>T | CA291730 | KCNJ2 | c.174C>T (p.Phe58=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.70175214A>C | CA400860038 | KCNJ2 | c.175A>C (p.Ile59Leu) | |
17 | g.70175214A>G | CA400860036 | KCNJ2 | c.175A>G (p.Ile59Val) | |
17 | g.70175214A>T | CA400860037 | KCNJ2 | c.175A>T (p.Ile59Phe) | |
17 | g.70175215T>A | CA400860039 | KCNJ2 | c.176T>A (p.Ile59Asn) | |
17 | g.70175215T>C | CA400860040 | KCNJ2 | c.176T>C (p.Ile59Thr) | |
17 | g.70175215T>G | CA293702903 | KCNJ2 | c.176T>G (p.Ile59Ser) | dbSNP |
17 | g.70175215T= | CA2272996477 | KCNJ2 | c.176T= (p.Ile59=) | |
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) |