Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.70175583A>C | CA400860934 | KCNJ2 | c.544A>C (p.Lys182Gln) | |
17 | g.70175583A>G | CA400860937 | KCNJ2 | c.544A>G (p.Lys182Glu) | |
17 | g.70175583A>T | CA400860932 | KCNJ2 | c.544A>T (p.Lys182Ter) | |
17 | g.70175584A>C | CA400860943 | KCNJ2 | c.545A>C (p.Lys182Thr) | |
17 | g.70175584A>G | CA400860939 | KCNJ2 | c.545A>G (p.Lys182Arg) | |
17 | g.70175584A>T | CA400860941 | KCNJ2 | c.545A>T (p.Lys182Met) | |
17 | g.70175585G>A | CA501700503 | KCNJ2 | c.546G>A (p.Lys182=) | |
17 | g.70175585G>C | CA400860945 | KCNJ2 | c.546G>C (p.Lys182Asn) | |
17 | g.70175585G>T | CA400860947 | KCNJ2 | c.546G>T (p.Lys182Asn) | |
17 | g.70175586A>C | CA400860950 | KCNJ2 | c.547A>C (p.Met183Leu) | |
17 | g.70175586A>G | CA400860952 | KCNJ2 | c.547A>G (p.Met183Val) | |
17 | g.70175586A>T | CA400860953 | KCNJ2 | c.547A>T (p.Met183Leu) | |
17 | g.70175587T>A | CA400860955 | KCNJ2 | c.548T>A (p.Met183Lys) | |
17 | g.70175587T>C | CA400860957 | KCNJ2 | c.548T>C (p.Met183Thr) | |
17 | g.70175587T>G | CA400860959 | KCNJ2 | c.548T>G (p.Met183Arg) | |
17 | g.70175588G>A | CA400860962 | KCNJ2 | c.549G>A (p.Met183Ile) | |
17 | g.70175588G>C | CA400860963 | KCNJ2 | c.549G>C (p.Met183Ile) | |
17 | g.70175588G>T | CA400860965 | KCNJ2 | c.549G>T (p.Met183Ile) | |
17 | g.70175589G>A | CA400860970 | KCNJ2 | c.550G>A (p.Ala184Thr) | |
17 | g.70175589G>C | CA400860968 | KCNJ2 | c.550G>C (p.Ala184Pro) | |
17 | g.70175589G>T | CA400860966 | KCNJ2 | c.550G>T (p.Ala184Ser) | |
17 | g.70175590C>A | CA400860972 | KCNJ2 | c.551C>A (p.Ala184Glu) | |
17 | g.70175590C>G | CA400860974 | KCNJ2 | c.551C>G (p.Ala184Gly) | |
17 | g.70175590C>T | CA400860975 | KCNJ2 | c.551C>T (p.Ala184Val) | |
17 | g.70175591A>C | CA501700518 | KCNJ2 | c.552A>C (p.Ala184=) | |
17 | g.70175591A>G | CA501700519 | KCNJ2 | c.552A>G (p.Ala184=) | |
17 | g.70175591A>T | CA501700520 | KCNJ2 | c.552A>T (p.Ala184=) | |
17 | g.70175592A>C | CA400860977 | KCNJ2 | c.553A>C (p.Lys185Gln) | |
17 | g.70175592A>G | CA400860978 | KCNJ2 | c.553A>G (p.Lys185Glu) | ClinVar |
17 | g.70175592A>T | CA400860980 | KCNJ2 | c.553A>T (p.Lys185Ter) | |
17 | g.70175593A>C | CA400860983 | KCNJ2 | c.554A>C (p.Lys185Thr) | |
17 | g.70175593A>G | CA400860985 | KCNJ2 | c.554A>G (p.Lys185Arg) | |
17 | g.70175593A>T | CA400860986 | KCNJ2 | c.554A>T (p.Lys185Met) | |
17 | g.70175594G>A | CA501700527 | KCNJ2 | c.555G>A (p.Lys185=) | gnomAD v4 |
17 | g.70175594G>C | CA400860989 | KCNJ2 | c.555G>C (p.Lys185Asn) | |
17 | g.70175594G>T | CA400860990 | KCNJ2 | c.555G>T (p.Lys185Asn) | |
17 | g.70175595C>A | CA400860991 | KCNJ2 | c.556C>A (p.Pro186Thr) | |
17 | g.70175595C>G | CA400860993 | KCNJ2 | c.556C>G (p.Pro186Ala) | |
17 | g.70175595C>T | CA400860994 | KCNJ2 | c.556C>T (p.Pro186Ser) | |
17 | g.70175596C>A | CA400860997 | KCNJ2 | c.557C>A (p.Pro186Gln) | ClinVar dbSNP |
17 | g.70175596C= | CA2272996615 | KCNJ2 | c.557C= (p.Pro186=) | |
17 | g.70175596C>G | CA400860998 | KCNJ2 | c.557C>G (p.Pro186Arg) | |
17 | g.70175596C>T | CA254596 | KCNJ2 | c.557C>T (p.Pro186Leu) | ClinVar dbSNP |
17 | g.70175597A= | CA2272996616 | KCNJ2 | c.558A= (p.Pro186=) | |
17 | g.70175597A>C | CA501700533 | KCNJ2 | c.558A>C (p.Pro186=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.70175597A>G | CA8738743 | KCNJ2 | c.558A>G (p.Pro186=) | dbSNP ExAC gnomAD v2 |
17 | g.70175597A>T | CA501700534 | KCNJ2 | c.558A>T (p.Pro186=) | |
17 | g.70175598A>C | CA400861000 | KCNJ2 | c.559A>C (p.Lys187Gln) | |
17 | g.70175598A>G | CA400861001 | KCNJ2 | c.559A>G (p.Lys187Glu) | |
17 | g.70175598A>T | CA400861003 | KCNJ2 | c.559A>T (p.Lys187Ter) |