Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.70170730_70175461delCA1139665860KCNJ2c.-217+1029_422del
c.-217+1873_422del
ClinVar
17g.70175100T>ACA400859773KCNJ2c.61T>A (p.Leu21Met)
17g.70175100T>CCA501700145KCNJ2c.61T>C (p.Leu21=)
17g.70175100T>GCA400859774KCNJ2c.61T>G (p.Leu21Val)
17g.70175101T>ACA400859775KCNJ2c.62T>A (p.Leu21Ter)
17g.70175101T>CCA400859776KCNJ2c.62T>C (p.Leu21Ser)
17g.70175101T>GCA400859777KCNJ2c.62T>G (p.Leu21Trp)
17g.70175102G>ACA501700149KCNJ2c.63G>A (p.Leu21=)
17g.70175102G>CCA400859779KCNJ2c.63G>C (p.Leu21Phe)
17g.70175102G>TCA400859778KCNJ2c.63G>T (p.Leu21Phe)
dbSNP
17g.70175103G>ACA400859780KCNJ2c.64G>A (p.Ala22Thr)
gnomAD v4
17g.70175103G>CCA400859782KCNJ2c.64G>C (p.Ala22Pro)
17g.70175103G>TCA400859781KCNJ2c.64G>T (p.Ala22Ser)
17g.70175104C>ACA400859783KCNJ2c.65C>A (p.Ala22Asp)
17g.70175104C>GCA400859785KCNJ2c.65C>G (p.Ala22Gly)
17g.70175104C>TCA400859784KCNJ2c.65C>T (p.Ala22Val)
17g.70175105C>ACA501700153KCNJ2c.66C>A (p.Ala22=)
17g.70175105C>GCA501700154KCNJ2c.66C>G (p.Ala22=)
17g.70175105C>TCA501700155KCNJ2c.66C>T (p.Ala22=)
COSMIC
17g.70175106A>CCA400859786KCNJ2c.67A>C (p.Thr23Pro)
17g.70175106A>GCA400859788KCNJ2c.67A>G (p.Thr23Ala)
17g.70175106A>TCA400859787KCNJ2c.67A>T (p.Thr23Ser)
17g.70175107C>ACA400859789KCNJ2c.68C>A (p.Thr23Asn)
17g.70175107C>GCA400859791KCNJ2c.68C>G (p.Thr23Ser)
17g.70175107C>TCA400859790KCNJ2c.68C>T (p.Thr23Ile)
17g.70175108C>ACA501700157KCNJ2c.69C>A (p.Thr23=)
17g.70175108C>GCA501700158KCNJ2c.69C>G (p.Thr23=)
17g.70175108C>TCA501700159KCNJ2c.69C>T (p.Thr23=)
gnomAD v4
17g.70175109A=CA2272996429KCNJ2c.70A= (p.Met24=)
17g.70175109A>CCA400859792KCNJ2c.70A>C (p.Met24Leu)
17g.70175109A>GCA400859793KCNJ2c.70A>G (p.Met24Val)
ClinVar dbSNP gnomAD v4
17g.70175109A>TCA400859794KCNJ2c.70A>T (p.Met24Leu)
17g.70175110T>ACA400859795KCNJ2c.71T>A (p.Met24Lys)
gnomAD v4
17g.70175110T>CCA400859796KCNJ2c.71T>C (p.Met24Thr)
dbSNP
17g.70175110T>GCA400859797KCNJ2c.71T>G (p.Met24Arg)
17g.70175110T=CA2272996430KCNJ2c.71T= (p.Met24=)
17g.70175111G>ACA400859798KCNJ2c.72G>A (p.Met24Ile)
17g.70175111G>CCA400859799KCNJ2c.72G>C (p.Met24Ile)
17g.70175111G>TCA400859800KCNJ2c.72G>T (p.Met24Ile)
17g.70175112G>ACA400859801KCNJ2c.73G>A (p.Ala25Thr)
COSMIC
17g.70175112G>CCA400859802KCNJ2c.73G>C (p.Ala25Pro)
dbSNP gnomAD v3 gnomAD v4
17g.70175112G=CA2272996431KCNJ2c.73G= (p.Ala25=)
17g.70175112G>TCA400859803KCNJ2c.73G>T (p.Ala25Ser)
17g.70175113C>ACA400859806KCNJ2c.74C>A (p.Ala25Glu)
17g.70175113C>GCA400859805KCNJ2c.74C>G (p.Ala25Gly)
17g.70175113C>TCA400859804KCNJ2c.74C>T (p.Ala25Val)
gnomAD v4
17g.70175114A=CA2272996432KCNJ2c.75A= (p.Ala25=)
17g.70175114A>CCA501700163KCNJ2c.75A>C (p.Ala25=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.70175114A>GCA501700164KCNJ2c.75A>G (p.Ala25=)
dbSNP gnomAD v2 gnomAD v4
17g.70175114A>TCA501700165KCNJ2c.75A>T (p.Ala25=)

Number of alleles fetched