Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.70175818G>A | CA400862041 | KCNJ2 | c.779G>A (p.Arg260His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.70175818G>C | CA302046 | KCNJ2 | c.779G>C (p.Arg260Pro) | ClinVar dbSNP |
17 | g.70175818G= | CA2272996695 | KCNJ2 | c.779G= (p.Arg260=) | |
17 | g.70175818G>T | CA400862044 | KCNJ2 | c.779G>T (p.Arg260Leu) | |
17 | g.70175819T>A | CA501700929 | KCNJ2 | c.780T>A (p.Arg260=) | |
17 | g.70175819T>C | CA501700931 | KCNJ2 | c.780T>C (p.Arg260=) | |
17 | g.70175819T>G | CA501700932 | KCNJ2 | c.780T>G (p.Arg260=) | gnomAD v4 |
17 | g.70175820A= | CA2272996696 | KCNJ2 | c.781A= (p.Ile261=) | |
17 | g.70175820A>C | CA400862047 | KCNJ2 | c.781A>C (p.Ile261Leu) | |
17 | g.70175820A>G | CA8738764 | KCNJ2 | c.781A>G (p.Ile261Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70175820A>T | CA400862049 | KCNJ2 | c.781A>T (p.Ile261Leu) | |
17 | g.70175821T>A | CA400862056 | KCNJ2 | c.782T>A (p.Ile261Lys) | |
17 | g.70175821T>C | CA400862054 | KCNJ2 | c.782T>C (p.Ile261Thr) | |
17 | g.70175821T>G | CA400862052 | KCNJ2 | c.782T>G (p.Ile261Arg) | |
17 | g.70175822A>C | CA501700935 | KCNJ2 | c.783A>C (p.Ile261=) | |
17 | g.70175822A>G | CA400862058 | KCNJ2 | c.783A>G (p.Ile261Met) | |
17 | g.70175822A>T | CA501700934 | KCNJ2 | c.783A>T (p.Ile261=) | |
17 | g.70175823T>A | CA400862060 | KCNJ2 | c.784T>A (p.Phe262Ile) | |
17 | g.70175823T>C | CA400862064 | KCNJ2 | c.784T>C (p.Phe262Leu) | |
17 | g.70175823T>G | CA400862061 | KCNJ2 | c.784T>G (p.Phe262Val) | ClinVar dbSNP |
17 | g.70175823T= | CA2272996697 | KCNJ2 | c.784T= (p.Phe262=) | |
17 | g.70175824T>A | CA400862066 | KCNJ2 | c.785T>A (p.Phe262Tyr) | |
17 | g.70175824T>C | CA400862068 | KCNJ2 | c.785T>C (p.Phe262Ser) | |
17 | g.70175824T>G | CA400862069 | KCNJ2 | c.785T>G (p.Phe262Cys) | |
17 | g.70175825T>A | CA400862071 | KCNJ2 | c.786T>A (p.Phe262Leu) | ClinVar |
17 | g.70175825T>C | CA501700936 | KCNJ2 | c.786T>C (p.Phe262=) | |
17 | g.70175825T>G | CA400862073 | KCNJ2 | c.786T>G (p.Phe262Leu) | |
17 | g.70175826C>A | CA400862075 | KCNJ2 | c.787C>A (p.Leu263Met) | |
17 | g.70175826C>G | CA400862077 | KCNJ2 | c.787C>G (p.Leu263Val) | |
17 | g.70175826C>T | CA501700937 | KCNJ2 | c.787C>T (p.Leu263=) | |
17 | g.70175827T>A | CA400862079 | KCNJ2 | c.788T>A (p.Leu263Gln) | |
17 | g.70175827T>C | CA400862081 | KCNJ2 | c.788T>C (p.Leu263Pro) | |
17 | g.70175827T>G | CA400862083 | KCNJ2 | c.788T>G (p.Leu263Arg) | |
17 | g.70175828G>A | CA501700939 | KCNJ2 | c.789G>A (p.Leu263=) | |
17 | g.70175828G>C | CA501700940 | KCNJ2 | c.789G>C (p.Leu263=) | ClinVar gnomAD v4 |
17 | g.70175828G>T | CA501700941 | KCNJ2 | c.789G>T (p.Leu263=) | |
17 | g.70175829G>A | CA400862089 | KCNJ2 | c.790G>A (p.Val264Met) | |
17 | g.70175829G>C | CA400862087 | KCNJ2 | c.790G>C (p.Val264Leu) | |
17 | g.70175829G>T | CA400862085 | KCNJ2 | c.790G>T (p.Val264Leu) | |
17 | g.70175829_70175830insATTTGAGGAGC | CA2526544974 | KCNJ2 | c.790_791insATTTGAGGAGC (p.Val264AspfsTer10) | |
17 | g.70175830T>A | CA400862092 | KCNJ2 | c.791T>A (p.Val264Glu) | |
17 | g.70175830T>C | CA400862094 | KCNJ2 | c.791T>C (p.Val264Ala) | |
17 | g.70175830T>G | CA400862096 | KCNJ2 | c.791T>G (p.Val264Gly) | |
17 | g.70175831G>A | CA501700942 | KCNJ2 | c.792G>A (p.Val264=) | ClinVar dbSNP |
17 | g.70175831G>C | CA501700943 | KCNJ2 | c.792G>C (p.Val264=) | |
17 | g.70175831G>T | CA501700944 | KCNJ2 | c.792G>T (p.Val264=) | |
17 | g.70175832T>A | CA400862098 | KCNJ2 | c.793T>A (p.Ser265Thr) | |
17 | g.70175832T>C | CA400862099 | KCNJ2 | c.793T>C (p.Ser265Pro) | |
17 | g.70175832T>G | CA400862101 | KCNJ2 | c.793T>G (p.Ser265Ala) | |
17 | g.70175833C>A | CA400862103 | KCNJ2 | c.794C>A (p.Ser265Tyr) |