Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.70170730_70175461delCA1139665860KCNJ2c.-217+1029_422del
c.-217+1873_422del
ClinVar
17g.70175240G>ACA501700335KCNJ2c.201G>A (p.Arg67=)
17g.70175240G>CCA501700336KCNJ2c.201G>C (p.Arg67=)
17g.70175240G>TCA501700337KCNJ2c.201G>T (p.Arg67=)
17g.70175241T>ACA400860096KCNJ2c.202T>A (p.Tyr68Asn)
17g.70175241T>CCA400860095KCNJ2c.202T>C (p.Tyr68His)
17g.70175241T>GCA329639KCNJ2c.202T>G (p.Tyr68Asp)
ClinVar dbSNP
17g.70175241T=CA2272996483KCNJ2c.202T= (p.Tyr68=)
17g.70175242A>CCA400860097KCNJ2c.203A>C (p.Tyr68Ser)
17g.70175242A>GCA400860098KCNJ2c.203A>G (p.Tyr68Cys)
ClinVar dbSNP COSMIC
17g.70175242A>TCA400860099KCNJ2c.203A>T (p.Tyr68Phe)
17g.70175243C>ACA400860100KCNJ2c.204C>A (p.Tyr68Ter)
COSMIC
17g.70175243C>GCA400860101KCNJ2c.204C>G (p.Tyr68Ter)
17g.70175243C>TCA501700338KCNJ2c.204C>T (p.Tyr68=)
gnomAD v4
17g.70175244C>ACA400860102KCNJ2c.205C>A (p.Leu69Ile)
17g.70175244C>GCA400860103KCNJ2c.205C>G (p.Leu69Val)
17g.70175244C>TCA400860104KCNJ2c.205C>T (p.Leu69Phe)
ClinVar
17g.70175245T>ACA400860105KCNJ2c.206T>A (p.Leu69His)
17g.70175245T>CCA400860106KCNJ2c.206T>C (p.Leu69Pro)
17g.70175245T>GCA400860107KCNJ2c.206T>G (p.Leu69Arg)
17g.70175246C>ACA501700339KCNJ2c.207C>A (p.Leu69=)
17g.70175246C=CA2272996484KCNJ2c.207C= (p.Leu69=)
17g.70175246C>GCA293702905KCNJ2c.207C>G (p.Leu69=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.70175246C>TCA501700340KCNJ2c.207C>T (p.Leu69=)
ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
17g.70175247G>ACA302020KCNJ2c.208G>A (p.Ala70Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.70175247G>CCA400860108KCNJ2c.208G>C (p.Ala70Pro)
dbSNP
17g.70175247G=CA2272996485KCNJ2c.208G= (p.Ala70=)
17g.70175247G>TCA8738699KCNJ2c.208G>T (p.Ala70Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.70175248C>ACA400860109KCNJ2c.209C>A (p.Ala70Glu)
17g.70175248C>GCA400860110KCNJ2c.209C>G (p.Ala70Gly)
17g.70175248C>TCA400860111KCNJ2c.209C>T (p.Ala70Val)
17g.70175249A>CCA501700342KCNJ2c.210A>C (p.Ala70=)
17g.70175249A>GCA501700344KCNJ2c.210A>G (p.Ala70=)
17g.70175249A>TCA501700346KCNJ2c.210A>T (p.Ala70=)
17g.70175250G>ACA329642KCNJ2c.211G>A (p.Asp71Asn)
ClinVar dbSNP
17g.70175250G>CCA085820KCNJ2c.211G>C (p.Asp71His)
ClinVar dbSNP
17g.70175250G=CA2272996486KCNJ2c.211G= (p.Asp71=)
17g.70175250G>TCA400860112KCNJ2c.211G>T (p.Asp71Tyr)
17g.70175251A=CA2272996487KCNJ2c.212A= (p.Asp71=)
17g.70175251A>CCA400860113KCNJ2c.212A>C (p.Asp71Ala)
17g.70175251A>GCA400860114KCNJ2c.212A>G (p.Asp71Gly)
17g.70175251A>TCA254592KCNJ2c.212A>T (p.Asp71Val)
ClinVar dbSNP
17g.70175252C>ACA400860115KCNJ2c.213C>A (p.Asp71Glu)
17g.70175252C=CA2272996488KCNJ2c.213C= (p.Asp71=)
17g.70175252C>GCA400860116KCNJ2c.213C>G (p.Asp71Glu)
17g.70175252C>TCA8738700KCNJ2c.213C>T (p.Asp71=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.70175253A=CA2272996489KCNJ2c.214A= (p.Ile72=)
17g.70175253A>CCA400860119KCNJ2c.214A>C (p.Ile72Leu)
17g.70175253A>GCA400860117KCNJ2c.214A>G (p.Ile72Val)
17g.70175253A>TCA400860118KCNJ2c.214A>T (p.Ile72Phe)
dbSNP

Number of alleles fetched