Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.17387456G>A | CA5902271 | KCNJ11 | c.375C>T (p.Ser125=) c.636C>T (p.Ser212=) n.794C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.17387456G>C | CA379771949 | KCNJ11 | c.375C>G (p.Ser125Arg) c.636C>G (p.Ser212Arg) n.794C>G | |
11 | g.17387456G= | CA1955119268 | KCNJ11 | c.375C= (p.Ser125=) c.636C= (p.Ser212=) n.794C= | |
11 | g.17387456G>T | CA379771945 | KCNJ11 | c.375C>A (p.Ser125Arg) c.636C>A (p.Ser212Arg) n.794C>A | gnomAD v4 |
11 | g.17387457C>A | CA379771953 | KCNJ11 | c.374G>T (p.Ser125Ile) c.635G>T (p.Ser212Ile) n.793G>T | |
11 | g.17387457C= | CA1955119269 | KCNJ11 | c.374G= (p.Ser125=) c.635G= (p.Ser212=) n.793G= | |
11 | g.17387457C>G | CA379771954 | KCNJ11 | c.374G>C (p.Ser125Thr) c.635G>C (p.Ser212Thr) n.793G>C | |
11 | g.17387457C>T | CA218399734 | KCNJ11 | c.374G>A (p.Ser125Asn) c.635G>A (p.Ser212Asn) n.793G>A | dbSNP gnomAD v4 |
11 | g.17387458T>A | CA379771958 | KCNJ11 | c.373A>T (p.Ser125Cys) c.634A>T (p.Ser212Cys) n.792A>T | |
11 | g.17387458T>C | CA379771960 | KCNJ11 | c.373A>G (p.Ser125Gly) c.634A>G (p.Ser212Gly) n.792A>G | |
11 | g.17387458T>G | CA379771959 | KCNJ11 | c.373A>C (p.Ser125Arg) c.634A>C (p.Ser212Arg) n.792A>C | |
11 | g.17387459G>A | CA473515679 | KCNJ11 | c.372C>T (p.Ile124=) c.633C>T (p.Ile211=) n.791C>T | COSMIC |
11 | g.17387459G>C | CA379771962 | KCNJ11 | c.372C>G (p.Ile124Met) c.633C>G (p.Ile211Met) n.791C>G | |
11 | g.17387459G>T | CA473515680 | KCNJ11 | c.372C>A (p.Ile124=) c.633C>A (p.Ile211=) n.791C>A | gnomAD v4 |
11 | g.17387460A>C | CA379771978 | KCNJ11 | c.371T>G (p.Ile124Ser) c.632T>G (p.Ile211Ser) n.790T>G | |
11 | g.17387460A>G | CA379771976 | KCNJ11 | c.371T>C (p.Ile124Thr) c.632T>C (p.Ile211Thr) n.790T>C | |
11 | g.17387460A>T | CA379771981 | KCNJ11 | c.371T>A (p.Ile124Asn) c.632T>A (p.Ile211Asn) n.790T>A | |
11 | g.17387461T>A | CA379771982 | KCNJ11 | c.370A>T (p.Ile124Phe) c.631A>T (p.Ile211Phe) n.789A>T | |
11 | g.17387461T>C | CA379771984 | KCNJ11 | c.370A>G (p.Ile124Val) c.631A>G (p.Ile211Val) n.789A>G | |
11 | g.17387461T>G | CA379771983 | KCNJ11 | c.370A>C (p.Ile124Leu) c.631A>C (p.Ile211Leu) n.789A>C | |
11 | g.17387462G>A | CA473515681 | KCNJ11 | c.369C>T (p.Ile123=) c.630C>T (p.Ile210=) n.788C>T | ClinVar dbSNP |
11 | g.17387462G>C | CA379771986 | KCNJ11 | c.369C>G (p.Ile123Met) c.630C>G (p.Ile210Met) n.788C>G | |
11 | g.17387462G= | CA1955119270 | KCNJ11 | c.369C= (p.Ile123=) c.630C= (p.Ile210=) n.788C= | |
11 | g.17387462G>T | CA473515682 | KCNJ11 | c.369C>A (p.Ile123=) c.630C>A (p.Ile210=) n.788C>A | |
11 | g.17387463A>C | CA379771993 | KCNJ11 | c.368T>G (p.Ile123Ser) c.629T>G (p.Ile210Ser) n.787T>G | |
11 | g.17387463A>G | CA379771990 | KCNJ11 | c.368T>C (p.Ile123Thr) c.629T>C (p.Ile210Thr) n.787T>C | ClinVar dbSNP gnomAD v4 |
11 | g.17387463A>T | CA379771992 | KCNJ11 | c.368T>A (p.Ile123Asn) c.629T>A (p.Ile210Asn) n.787T>A | |
11 | g.17387464T>A | CA379771995 | KCNJ11 | c.367A>T (p.Ile123Phe) c.628A>T (p.Ile210Phe) n.786A>T | |
11 | g.17387464T>C | CA379771997 | KCNJ11 | c.367A>G (p.Ile123Val) c.628A>G (p.Ile210Val) n.786A>G | |
11 | g.17387464T>G | CA379772001 | KCNJ11 | c.367A>C (p.Ile123Leu) c.628A>C (p.Ile210Leu) n.786A>C | |
11 | g.17387465C>A | CA379772005 | KCNJ11 | c.366G>T (p.Met122Ile) c.627G>T (p.Met209Ile) n.785G>T | |
11 | g.17387465C>G | CA379772008 | KCNJ11 | c.366G>C (p.Met122Ile) c.627G>C (p.Met209Ile) n.785G>C | |
11 | g.17387465C>T | CA379772014 | KCNJ11 | c.366G>A (p.Met122Ile) c.627G>A (p.Met209Ile) n.785G>A | gnomAD v4 |
11 | g.17387466A>C | CA379772020 | KCNJ11 | c.365T>G (p.Met122Arg) c.626T>G (p.Met209Arg) n.784T>G | |
11 | g.17387466A>G | CA379772023 | KCNJ11 | c.365T>C (p.Met122Thr) c.626T>C (p.Met209Thr) n.784T>C | |
11 | g.17387466A>T | CA379772028 | KCNJ11 | c.365T>A (p.Met122Lys) c.626T>A (p.Met209Lys) n.784T>A | |
11 | g.17387467T>A | CA379772049 | KCNJ11 | c.364A>T (p.Met122Leu) c.625A>T (p.Met209Leu) n.783A>T | |
11 | g.17387467T>C | CA379772045 | KCNJ11 | c.364A>G (p.Met122Val) c.625A>G (p.Met209Val) n.783A>G | ClinVar gnomAD v4 |
11 | g.17387467T>G | CA379772043 | KCNJ11 | c.364A>C (p.Met122Leu) c.625A>C (p.Met209Leu) n.783A>C | |
11 | g.17387468G>A | CA473515683 | KCNJ11 | c.363C>T (p.Ser121=) c.624C>T (p.Ser208=) n.782C>T | gnomAD v4 |
11 | g.17387468G>C | CA379772053 | KCNJ11 | c.363C>G (p.Ser121Arg) c.624C>G (p.Ser208Arg) n.782C>G | |
11 | g.17387468G>T | CA379772059 | KCNJ11 | c.363C>A (p.Ser121Arg) c.624C>A (p.Ser208Arg) n.782C>A | |
11 | g.17387469C>A | CA379772066 | KCNJ11 | c.362G>T (p.Ser121Ile) c.623G>T (p.Ser208Ile) n.781G>T | |
11 | g.17387469C>G | CA379772072 | KCNJ11 | c.362G>C (p.Ser121Thr) c.623G>C (p.Ser208Thr) n.781G>C | |
11 | g.17387469C>T | CA379772076 | KCNJ11 | c.362G>A (p.Ser121Asn) c.623G>A (p.Ser208Asn) n.781G>A | |
11 | g.17387470T>A | CA379772086 | KCNJ11 | c.361A>T (p.Ser121Cys) c.622A>T (p.Ser208Cys) n.780A>T | |
11 | g.17387470T>C | CA379772090 | KCNJ11 | c.361A>G (p.Ser121Gly) c.622A>G (p.Ser208Gly) n.780A>G | |
11 | g.17387470T>G | CA379772091 | KCNJ11 | c.361A>C (p.Ser121Arg) c.622A>C (p.Ser208Arg) n.780A>C | |
11 | g.17387471C>A | CA379772092 | KCNJ11 | c.360G>T (p.Lys120Asn) c.621G>T (p.Lys207Asn) n.779G>T | |
11 | g.17387471C= | CA1955119271 | KCNJ11 | c.360G= (p.Lys120=) c.621G= (p.Lys207=) n.779G= |