Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.70170730_70175461del | CA1139665860 | KCNJ2 | c.-217+1029_422del c.-217+1873_422del | ClinVar |
17 | g.70175271G>A | CA400860152 | KCNJ2 | c.232G>A (p.Asp78Asn) | ClinVar |
17 | g.70175271G>C | CA400860153 | KCNJ2 | c.232G>C (p.Asp78His) | ClinVar dbSNP |
17 | g.70175271G= | CA2272996499 | KCNJ2 | c.232G= (p.Asp78=) | |
17 | g.70175271G>T | CA329651 | KCNJ2 | c.232G>T (p.Asp78Tyr) | ClinVar dbSNP |
17 | g.70175272A= | CA2272996500 | KCNJ2 | c.233A= (p.Asp78=) | |
17 | g.70175272A>C | CA400860155 | KCNJ2 | c.233A>C (p.Asp78Ala) | |
17 | g.70175272A>G | CA329654 | KCNJ2 | c.233A>G (p.Asp78Gly) | ClinVar dbSNP |
17 | g.70175272A>T | CA400860154 | KCNJ2 | c.233A>T (p.Asp78Val) | gnomAD v4 |
17 | g.70175273C>A | CA400860156 | KCNJ2 | c.234C>A (p.Asp78Glu) | |
17 | g.70175273C= | CA2272996501 | KCNJ2 | c.234C= (p.Asp78=) | |
17 | g.70175273C>G | CA400860157 | KCNJ2 | c.234C>G (p.Asp78Glu) | |
17 | g.70175273C>T | CA501700391 | KCNJ2 | c.234C>T (p.Asp78=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.70175274A>C | CA400860158 | KCNJ2 | c.235A>C (p.Ile79Leu) | |
17 | g.70175274A>G | CA400860159 | KCNJ2 | c.235A>G (p.Ile79Val) | ClinVar |
17 | g.70175274A>T | CA400860160 | KCNJ2 | c.235A>T (p.Ile79Phe) | |
17 | g.70175275T>A | CA400860161 | KCNJ2 | c.236T>A (p.Ile79Asn) | |
17 | g.70175275T>C | CA302026 | KCNJ2 | c.236T>C (p.Ile79Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.70175275T>G | CA400860162 | KCNJ2 | c.236T>G (p.Ile79Ser) | |
17 | g.70175275T= | CA2272996502 | KCNJ2 | c.236T= (p.Ile79=) | |
17 | g.70175276T>A | CA501700395 | KCNJ2 | c.237T>A (p.Ile79=) | |
17 | g.70175276T>C | CA501700396 | KCNJ2 | c.237T>C (p.Ile79=) | |
17 | g.70175276T>G | CA400860163 | KCNJ2 | c.237T>G (p.Ile79Met) | |
17 | g.70175277C>A | CA400860164 | KCNJ2 | c.238C>A (p.Arg80Ser) | gnomAD v4 |
17 | g.70175277C= | CA2272996503 | KCNJ2 | c.238C= (p.Arg80=) | |
17 | g.70175277C>G | CA400860165 | KCNJ2 | c.238C>G (p.Arg80Gly) | |
17 | g.70175277C>T | CA400860166 | KCNJ2 | c.238C>T (p.Arg80Cys) | ClinVar dbSNP |
17 | g.70175278G>A | CA400860168 | KCNJ2 | c.239G>A (p.Arg80His) | ClinVar dbSNP gnomAD v4 COSMIC |
17 | g.70175278G>C | CA400860169 | KCNJ2 | c.239G>C (p.Arg80Pro) | |
17 | g.70175278G>T | CA400860167 | KCNJ2 | c.239G>T (p.Arg80Leu) | |
17 | g.70175279C>A | CA501700402 | KCNJ2 | c.240C>A (p.Arg80=) | gnomAD v4 |
17 | g.70175279C>G | CA501700403 | KCNJ2 | c.240C>G (p.Arg80=) | gnomAD v4 |
17 | g.70175279C>T | CA501700404 | KCNJ2 | c.240C>T (p.Arg80=) | |
17 | g.70175280T>A | CA400860170 | KCNJ2 | c.241T>A (p.Trp81Arg) | |
17 | g.70175280T>C | CA400860171 | KCNJ2 | c.241T>C (p.Trp81Arg) | |
17 | g.70175280T>G | CA400860172 | KCNJ2 | c.241T>G (p.Trp81Gly) | |
17 | g.70175281G>A | CA400860173 | KCNJ2 | c.242G>A (p.Trp81Ter) | |
17 | g.70175281G>C | CA400860174 | KCNJ2 | c.242G>C (p.Trp81Ser) | COSMIC |
17 | g.70175281G>T | CA400860175 | KCNJ2 | c.242G>T (p.Trp81Leu) | |
17 | g.70175282G>A | CA400860178 | KCNJ2 | c.243G>A (p.Trp81Ter) | |
17 | g.70175282G>C | CA400860176 | KCNJ2 | c.243G>C (p.Trp81Cys) | |
17 | g.70175282G>T | CA400860177 | KCNJ2 | c.243G>T (p.Trp81Cys) | |
17 | g.70175283C>A | CA501700409 | KCNJ2 | c.244C>A (p.Arg82=) | ClinVar |
17 | g.70175283C= | CA2272996504 | KCNJ2 | c.244C= (p.Arg82=) | |
17 | g.70175283C>G | CA400860179 | KCNJ2 | c.244C>G (p.Arg82Gly) | |
17 | g.70175283C>T | CA145013 | KCNJ2 | c.244C>T (p.Arg82Trp) | ClinVar dbSNP gnomAD v4 |
17 | g.70175284G>A | CA329657 | KCNJ2 | c.245G>A (p.Arg82Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.70175284G>C | CA400860180 | KCNJ2 | c.245G>C (p.Arg82Pro) | |
17 | g.70175284G= | CA2272996505 | KCNJ2 | c.245G= (p.Arg82=) | |
17 | g.70175284G>T | CA400860181 | KCNJ2 | c.245G>T (p.Arg82Leu) |