Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.70170730_70175461delCA1139665860KCNJ2c.-217+1029_422del
c.-217+1873_422del
ClinVar
17g.70175336_70175343delinsTGGCTGTGCA2272996526KCNJ2c.297_304delinsTGGCTGTG (p.Phe99=)
17g.70175337_70175343delCA293702910KCNJ2c.298_304del (p.Gly100CysfsTer4)
dbSNP
17g.70175340T>ACA400860299KCNJ2c.301T>A (p.Cys101Ser)
17g.70175340T>CCA145016KCNJ2c.301T>C (p.Cys101Arg)
ClinVar dbSNP
17g.70175340T>GCA400860300KCNJ2c.301T>G (p.Cys101Gly)
17g.70175340T=CA2272996529KCNJ2c.301T= (p.Cys101=)
17g.70175345_70175346delCA2639593662KCNJ2c.306_307del (p.Phe103LeufsTer?)
gnomAD v4
17g.70175341G>ACA400860301KCNJ2c.302G>A (p.Cys101Tyr)
gnomAD v4
17g.70175341G>CCA400860302KCNJ2c.302G>C (p.Cys101Ser)
17g.70175341G=CA2272996530KCNJ2c.302G= (p.Cys101=)
17g.70175341G>TCA8738712KCNJ2c.302G>T (p.Cys101Phe)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.70175342T>ACA400860303KCNJ2c.303T>A (p.Cys101Ter)
17g.70175342T>CCA8738713KCNJ2c.303T>C (p.Cys101=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.70175342T>GCA400860304KCNJ2c.303T>G (p.Cys101Trp)
17g.70175342T=CA2272996531KCNJ2c.303T= (p.Cys101=)
17g.70175343G>ACA8738714KCNJ2c.304G>A (p.Val102Met)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.70175343G>CCA400860305KCNJ2c.304G>C (p.Val102Leu)
17g.70175343G=CA2272996532KCNJ2c.304G= (p.Val102=)
17g.70175343G>TCA400860306KCNJ2c.304G>T (p.Val102Leu)
COSMIC
17g.70175344T>ACA400860307KCNJ2c.305T>A (p.Val102Glu)
17g.70175344T>CCA400860308KCNJ2c.305T>C (p.Val102Ala)
17g.70175344T>GCA400860309KCNJ2c.305T>G (p.Val102Gly)
17g.70175345G>ACA501700384KCNJ2c.306G>A (p.Val102=)
gnomAD v4
17g.70175345G>CCA501700385KCNJ2c.306G>C (p.Val102=)
ClinVar dbSNP
17g.70175345G>TCA501700386KCNJ2c.306G>T (p.Val102=)
17g.70175346T>ACA400860310KCNJ2c.307T>A (p.Phe103Ile)
17g.70175346T>CCA400860311KCNJ2c.307T>C (p.Phe103Leu)
gnomAD v4
17g.70175346T>GCA400860312KCNJ2c.307T>G (p.Phe103Val)
17g.70175347T>ACA400860315KCNJ2c.308T>A (p.Phe103Tyr)
17g.70175347T>CCA400860313KCNJ2c.308T>C (p.Phe103Ser)
17g.70175347T>GCA400860314KCNJ2c.308T>G (p.Phe103Cys)
17g.70175348T>ACA400860316KCNJ2c.309T>A (p.Phe103Leu)
17g.70175348T>CCA501700390KCNJ2c.309T>C (p.Phe103=)
17g.70175348T>GCA400860317KCNJ2c.309T>G (p.Phe103Leu)
17g.70175349T>ACA400860318KCNJ2c.310T>A (p.Trp104Arg)
17g.70175349T>CCA400860319KCNJ2c.310T>C (p.Trp104Arg)
17g.70175349T>GCA400860320KCNJ2c.310T>G (p.Trp104Gly)
17g.70175350G>ACA400860321KCNJ2c.311G>A (p.Trp104Ter)
17g.70175350G>CCA400860322KCNJ2c.311G>C (p.Trp104Ser)
17g.70175350G>TCA400860323KCNJ2c.311G>T (p.Trp104Leu)
17g.70175351G>ACA400860324KCNJ2c.312G>A (p.Trp104Ter)
17g.70175351G>CCA400860325KCNJ2c.312G>C (p.Trp104Cys)
17g.70175351G=CA2272996533KCNJ2c.312G= (p.Trp104=)
17g.70175351G>TCA293702911KCNJ2c.312G>T (p.Trp104Cys)
dbSNP
17g.70175352T>ACA8738715KCNJ2c.313T>A (p.Leu105Met)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.70175352T>CCA501700398KCNJ2c.313T>C (p.Leu105=)
gnomAD v4
17g.70175352T>GCA400860326KCNJ2c.313T>G (p.Leu105Val)
17g.70175352T=CA2272996534KCNJ2c.313T= (p.Leu105=)
17g.70175353T>ACA400860327KCNJ2c.314T>A (p.Leu105Ter)

Number of alleles fetched