Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.70170730_70175461delCA1139665860KCNJ2c.-217+1029_422del
c.-217+1873_422del
ClinVar
17g.70175453G>ACA501700597KCNJ2c.414G>A (p.Glu138=)
17g.70175453G>CCA400860548KCNJ2c.414G>C (p.Glu138Asp)
17g.70175453G>TCA400860547KCNJ2c.414G>T (p.Glu138Asp)
17g.70175454A>CCA400860549KCNJ2c.415A>C (p.Thr139Pro)
17g.70175454A>GCA400860550KCNJ2c.415A>G (p.Thr139Ala)
17g.70175454A>TCA400860551KCNJ2c.415A>T (p.Thr139Ser)
17g.70175455C>ACA400860552KCNJ2c.416C>A (p.Thr139Asn)
17g.70175455C=CA2272996569KCNJ2c.416C= (p.Thr139=)
17g.70175455C>GCA400860553KCNJ2c.416C>G (p.Thr139Ser)
17g.70175455C>TCA16615918KCNJ2c.416C>T (p.Thr139Ile)
ClinVar
17g.70175456C>ACA8738726KCNJ2c.417C>A (p.Thr139=)
dbSNP ExAC gnomAD
17g.70175456C=CA2272996570KCNJ2c.417C= (p.Thr139=)
17g.70175456C>GCA501700602KCNJ2c.417C>G (p.Thr139=)
17g.70175456C>TCA8738727KCNJ2c.417C>T (p.Thr139=)
dbSNP ExAC gnomAD
17g.70175457C>ACA400860554KCNJ2c.418C>A (p.Gln140Lys)
17g.70175457C>GCA400860555KCNJ2c.418C>G (p.Gln140Glu)
17g.70175457C>TCA400860556KCNJ2c.418C>T (p.Gln140Ter)
17g.70175458A>CCA400860557KCNJ2c.419A>C (p.Gln140Pro)
17g.70175458A>GCA400860558KCNJ2c.419A>G (p.Gln140Arg)
17g.70175458A>TCA400860559KCNJ2c.419A>T (p.Gln140Leu)
17g.70175459G>ACA501700605KCNJ2c.420G>A (p.Gln140=)
17g.70175459G>CCA400860560KCNJ2c.420G>C (p.Gln140His)
17g.70175459G>TCA400860561KCNJ2c.420G>T (p.Gln140His)
17g.70175460A>CCA400860562KCNJ2c.421A>C (p.Thr141Pro)
17g.70175460A>GCA400860563KCNJ2c.421A>G (p.Thr141Ala)
17g.70175460A>TCA400860564KCNJ2c.421A>T (p.Thr141Ser)
17g.70175461C>ACA400860565KCNJ2c.422C>A (p.Thr141Lys)
17g.70175461C>GCA400860566KCNJ2c.422C>G (p.Thr141Arg)
17g.70175461C>TCA400860567KCNJ2c.422C>T (p.Thr141Ile)
17g.70175462A>CCA501700612KCNJ2c.423A>C (p.Thr141=)
17g.70175462A>GCA501700613KCNJ2c.423A>G (p.Thr141=)
17g.70175462A>TCA501700615KCNJ2c.423A>T (p.Thr141=)
17g.70175463A>CCA400860568KCNJ2c.424A>C (p.Thr142Pro)
17g.70175463A>GCA400860569KCNJ2c.424A>G (p.Thr142Ala)
17g.70175463A>TCA400860570KCNJ2c.424A>T (p.Thr142Ser)
17g.70175464C>ACA400860571KCNJ2c.425C>A (p.Thr142Asn)
17g.70175464C>GCA400860572KCNJ2c.425C>G (p.Thr142Ser)
17g.70175464C>TCA400860573KCNJ2c.425C>T (p.Thr142Ile)
17g.70175465C>ACA501700623KCNJ2c.426C>A (p.Thr142=)
17g.70175465C>GCA501700622KCNJ2c.426C>G (p.Thr142=)
17g.70175465C>TCA501700621KCNJ2c.426C>T (p.Thr142=)
17g.70175466A>CCA400860575KCNJ2c.427A>C (p.Ile143Leu)
17g.70175466A>GCA400860576KCNJ2c.427A>G (p.Ile143Val)
17g.70175466A>TCA400860574KCNJ2c.427A>T (p.Ile143Leu)
17g.70175467T>ACA400860577KCNJ2c.428T>A (p.Ile143Lys)
17g.70175467T>CCA400860578KCNJ2c.428T>C (p.Ile143Thr)
17g.70175467T>GCA400860579KCNJ2c.428T>G (p.Ile143Arg)
17g.70175468A>CCA501700627KCNJ2c.429A>C (p.Ile143=)
17g.70175468A>GCA400860580KCNJ2c.429A>G (p.Ile143Met)

Number of alleles fetched