Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.70175773T>A | CA400861851 | KCNJ2 | c.734T>A (p.Leu245Gln) | |
17 | g.70175773T>C | CA400861853 | KCNJ2 | c.734T>C (p.Leu245Pro) | |
17 | g.70175773T>G | CA400861854 | KCNJ2 | c.734T>G (p.Leu245Arg) | |
17 | g.70175774G>A | CA501700878 | KCNJ2 | c.735G>A (p.Leu245=) | |
17 | g.70175774G>C | CA501700877 | KCNJ2 | c.735G>C (p.Leu245=) | |
17 | g.70175774G>T | CA501700876 | KCNJ2 | c.735G>T (p.Leu245=) | |
17 | g.70175775G>A | CA400861856 | KCNJ2 | c.736G>A (p.Asp246Asn) | |
17 | g.70175775G>C | CA400861858 | KCNJ2 | c.736G>C (p.Asp246His) | |
17 | g.70175775G= | CA2272996680 | KCNJ2 | c.736G= (p.Asp246=) | |
17 | g.70175775G>T | CA8738762 | KCNJ2 | c.736G>T (p.Asp246Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.70175776A>C | CA400861862 | KCNJ2 | c.737A>C (p.Asp246Ala) | |
17 | g.70175776A>G | CA400861863 | KCNJ2 | c.737A>G (p.Asp246Gly) | gnomAD v4 |
17 | g.70175776A>T | CA400861866 | KCNJ2 | c.737A>T (p.Asp246Val) | |
17 | g.70175777T>A | CA400861868 | KCNJ2 | c.738T>A (p.Asp246Glu) | |
17 | g.70175777T>C | CA501700882 | KCNJ2 | c.738T>C (p.Asp246=) | |
17 | g.70175777T>G | CA400861870 | KCNJ2 | c.738T>G (p.Asp246Glu) | |
17 | g.70175778C>A | CA400861873 | KCNJ2 | c.739C>A (p.Gln247Lys) | |
17 | g.70175778C= | CA2272996681 | KCNJ2 | c.739C= (p.Gln247=) | |
17 | g.70175778C>G | CA400861874 | KCNJ2 | c.739C>G (p.Gln247Glu) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.70175778C>T | CA400861876 | KCNJ2 | c.739C>T (p.Gln247Ter) | |
17 | g.70175779A>C | CA400861878 | KCNJ2 | c.740A>C (p.Gln247Pro) | |
17 | g.70175779A>G | CA400861880 | KCNJ2 | c.740A>G (p.Gln247Arg) | |
17 | g.70175779A>T | CA400861882 | KCNJ2 | c.740A>T (p.Gln247Leu) | |
17 | g.70175780A>C | CA400861884 | KCNJ2 | c.741A>C (p.Gln247His) | |
17 | g.70175780A>G | CA501700886 | KCNJ2 | c.741A>G (p.Gln247=) | |
17 | g.70175780A>T | CA400861885 | KCNJ2 | c.741A>T (p.Gln247His) | |
17 | g.70175781A>C | CA400861886 | KCNJ2 | c.742A>C (p.Ile248Leu) | |
17 | g.70175781A>G | CA400861888 | KCNJ2 | c.742A>G (p.Ile248Val) | gnomAD v4 |
17 | g.70175781A>T | CA400861890 | KCNJ2 | c.742A>T (p.Ile248Leu) | |
17 | g.70175782T>A | CA400861897 | KCNJ2 | c.743T>A (p.Ile248Lys) | |
17 | g.70175782T>C | CA400861895 | KCNJ2 | c.743T>C (p.Ile248Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.70175782T>G | CA400861892 | KCNJ2 | c.743T>G (p.Ile248Arg) | dbSNP |
17 | g.70175782T= | CA2272996682 | KCNJ2 | c.743T= (p.Ile248=) | |
17 | g.70175783A= | CA2272996683 | KCNJ2 | c.744A= (p.Ile248=) | |
17 | g.70175783A>C | CA501700888 | KCNJ2 | c.744A>C (p.Ile248=) | |
17 | g.70175783A>G | CA8738763 | KCNJ2 | c.744A>G (p.Ile248Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.70175783A>T | CA501700890 | KCNJ2 | c.744A>T (p.Ile248=) | |
17 | g.70175784G>A | CA400861898 | KCNJ2 | c.745G>A (p.Asp249Asn) | dbSNP |
17 | g.70175784G>C | CA400861899 | KCNJ2 | c.745G>C (p.Asp249His) | |
17 | g.70175784G= | CA2272996684 | KCNJ2 | c.745G= (p.Asp249=) | |
17 | g.70175784G>T | CA400861900 | KCNJ2 | c.745G>T (p.Asp249Tyr) | |
17 | g.70175785A>C | CA400861901 | KCNJ2 | c.746A>C (p.Asp249Ala) | |
17 | g.70175785A>G | CA400861902 | KCNJ2 | c.746A>G (p.Asp249Gly) | |
17 | g.70175785A>T | CA400861903 | KCNJ2 | c.746A>T (p.Asp249Val) | |
17 | g.70175786C>A | CA400861904 | KCNJ2 | c.747C>A (p.Asp249Glu) | |
17 | g.70175786C>G | CA400861905 | KCNJ2 | c.747C>G (p.Asp249Glu) | |
17 | g.70175786C>T | CA501700891 | KCNJ2 | c.747C>T (p.Asp249=) | |
17 | g.70175787A>C | CA400861906 | KCNJ2 | c.748A>C (p.Ile250Leu) | |
17 | g.70175787A>G | CA400861907 | KCNJ2 | c.748A>G (p.Ile250Val) | |
17 | g.70175787A>T | CA400861908 | KCNJ2 | c.748A>T (p.Ile250Phe) |