Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.70170730_70175461delCA1139665860KCNJ2c.-217+1029_422del
c.-217+1873_422del
ClinVar
17g.70175265T>ACA400860139KCNJ2c.226T>A (p.Cys76Ser)
17g.70175265T>CCA400860140KCNJ2c.226T>C (p.Cys76Arg)
ClinVar
17g.70175265T>GCA302023KCNJ2c.226T>G (p.Cys76Gly)
ClinVar dbSNP
17g.70175265T=CA2272996497KCNJ2c.226T= (p.Cys76=)
17g.70175266G>ACA400860143KCNJ2c.227G>A (p.Cys76Tyr)
17g.70175266G>CCA400860142KCNJ2c.227G>C (p.Cys76Ser)
COSMIC
17g.70175266G>TCA400860141KCNJ2c.227G>T (p.Cys76Phe)
17g.70175267T>ACA400860144KCNJ2c.228T>A (p.Cys76Ter)
17g.70175267T>CCA501700374KCNJ2c.228T>C (p.Cys76=)
17g.70175267T>GCA400860145KCNJ2c.228T>G (p.Cys76Trp)
17g.70175268G>ACA400860146KCNJ2c.229G>A (p.Val77Met)
17g.70175268G>CCA400860147KCNJ2c.229G>C (p.Val77Leu)
17g.70175268G>TCA400860148KCNJ2c.229G>T (p.Val77Leu)
17g.70175269T>ACA400860149KCNJ2c.230T>A (p.Val77Glu)
17g.70175269T>CCA400860150KCNJ2c.230T>C (p.Val77Ala)
17g.70175269T>GCA400860151KCNJ2c.230T>G (p.Val77Gly)
17g.70175270G>ACA8738704KCNJ2c.231G>A (p.Val77=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.70175270G>CCA501700382KCNJ2c.231G>C (p.Val77=)
gnomAD v4
17g.70175270G=CA2272996498KCNJ2c.231G= (p.Val77=)
17g.70175270G>TCA501700381KCNJ2c.231G>T (p.Val77=)
17g.70175271G>ACA400860152KCNJ2c.232G>A (p.Asp78Asn)
ClinVar
17g.70175271G>CCA400860153KCNJ2c.232G>C (p.Asp78His)
ClinVar dbSNP
17g.70175271G=CA2272996499KCNJ2c.232G= (p.Asp78=)
17g.70175271G>TCA329651KCNJ2c.232G>T (p.Asp78Tyr)
ClinVar dbSNP
17g.70175272A=CA2272996500KCNJ2c.233A= (p.Asp78=)
17g.70175272A>CCA400860155KCNJ2c.233A>C (p.Asp78Ala)
17g.70175272A>GCA329654KCNJ2c.233A>G (p.Asp78Gly)
ClinVar dbSNP
17g.70175272A>TCA400860154KCNJ2c.233A>T (p.Asp78Val)
gnomAD v4
17g.70175273C>ACA400860156KCNJ2c.234C>A (p.Asp78Glu)
17g.70175273C=CA2272996501KCNJ2c.234C= (p.Asp78=)
17g.70175273C>GCA400860157KCNJ2c.234C>G (p.Asp78Glu)
17g.70175273C>TCA501700391KCNJ2c.234C>T (p.Asp78=)
ClinVar dbSNP gnomAD v3 gnomAD v4
17g.70175274A>CCA400860158KCNJ2c.235A>C (p.Ile79Leu)
17g.70175274A>GCA400860159KCNJ2c.235A>G (p.Ile79Val)
ClinVar
17g.70175274A>TCA400860160KCNJ2c.235A>T (p.Ile79Phe)
17g.70175275T>ACA400860161KCNJ2c.236T>A (p.Ile79Asn)
17g.70175275T>CCA302026KCNJ2c.236T>C (p.Ile79Thr)
ClinVar dbSNP gnomAD v3 gnomAD v4
17g.70175275T>GCA400860162KCNJ2c.236T>G (p.Ile79Ser)
17g.70175275T=CA2272996502KCNJ2c.236T= (p.Ile79=)
17g.70175276T>ACA501700395KCNJ2c.237T>A (p.Ile79=)
17g.70175276T>CCA501700396KCNJ2c.237T>C (p.Ile79=)
17g.70175276T>GCA400860163KCNJ2c.237T>G (p.Ile79Met)
17g.70175277C>ACA400860164KCNJ2c.238C>A (p.Arg80Ser)
gnomAD v4
17g.70175277C=CA2272996503KCNJ2c.238C= (p.Arg80=)
17g.70175277C>GCA400860165KCNJ2c.238C>G (p.Arg80Gly)
17g.70175277C>TCA400860166KCNJ2c.238C>T (p.Arg80Cys)
ClinVar dbSNP
17g.70175278G>ACA400860168KCNJ2c.239G>A (p.Arg80His)
ClinVar dbSNP gnomAD v4 COSMIC
17g.70175278G>CCA400860169KCNJ2c.239G>C (p.Arg80Pro)
17g.70175278G>TCA400860167KCNJ2c.239G>T (p.Arg80Leu)

Number of alleles fetched