Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.70170730_70175461delCA1139665860KCNJ2c.-217+1029_422del
c.-217+1873_422del
ClinVar
17g.70175345_70175346delCA2639593662KCNJ2c.306_307del (p.Phe103LeufsTer?)
gnomAD v4
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)
17g.70175353T>CCA400860328KCNJ2c.314T>C (p.Leu105Ser)
17g.70175353T>GCA400860329KCNJ2c.314T>G (p.Leu105Trp)
gnomAD v4
17g.70175354G>ACA501700400KCNJ2c.315G>A (p.Leu105=)
gnomAD v4
17g.70175354G>CCA400860330KCNJ2c.315G>C (p.Leu105Phe)
17g.70175354G>TCA400860331KCNJ2c.315G>T (p.Leu105Phe)
17g.70175355A>CCA400860332KCNJ2c.316A>C (p.Ile106Leu)
17g.70175355A>GCA400860333KCNJ2c.316A>G (p.Ile106Val)
17g.70175355A>TCA400860334KCNJ2c.316A>T (p.Ile106Leu)
17g.70175356T>ACA400860335KCNJ2c.317T>A (p.Ile106Lys)
17g.70175356T>CCA400860336KCNJ2c.317T>C (p.Ile106Thr)
ClinVar dbSNP gnomAD v2 gnomAD v4
17g.70175356T>GCA400860337KCNJ2c.317T>G (p.Ile106Arg)
17g.70175356T=CA2272996535KCNJ2c.317T= (p.Ile106=)
17g.70175357A>CCA501700406KCNJ2c.318A>C (p.Ile106=)
17g.70175357A>GCA400860338KCNJ2c.318A>G (p.Ile106Met)
17g.70175357A>TCA501700408KCNJ2c.318A>T (p.Ile106=)
17g.70175358G>ACA400860341KCNJ2c.319G>A (p.Ala107Thr)
17g.70175358G>CCA400860340KCNJ2c.319G>C (p.Ala107Pro)
17g.70175358G>TCA400860339KCNJ2c.319G>T (p.Ala107Ser)
17g.70175359C>ACA400860342KCNJ2c.320C>A (p.Ala107Asp)
17g.70175359C>GCA400860343KCNJ2c.320C>G (p.Ala107Gly)
17g.70175359C>TCA400860344KCNJ2c.320C>T (p.Ala107Val)
17g.70175360T>ACA501700414KCNJ2c.321T>A (p.Ala107=)
17g.70175360T>CCA501700415KCNJ2c.321T>C (p.Ala107=)
ClinVar dbSNP
17g.70175360T>GCA501700417KCNJ2c.321T>G (p.Ala107=)

Number of alleles fetched