Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.70170730_70175461del | CA1139665860 | KCNJ2 | c.-217+1029_422del c.-217+1873_422del | ClinVar |
17 | g.70175265T>A | CA400860139 | KCNJ2 | c.226T>A (p.Cys76Ser) | |
17 | g.70175265T>C | CA400860140 | KCNJ2 | c.226T>C (p.Cys76Arg) | ClinVar |
17 | g.70175265T>G | CA302023 | KCNJ2 | c.226T>G (p.Cys76Gly) | ClinVar dbSNP |
17 | g.70175265T= | CA2272996497 | KCNJ2 | c.226T= (p.Cys76=) | |
17 | g.70175266G>A | CA400860143 | KCNJ2 | c.227G>A (p.Cys76Tyr) | |
17 | g.70175266G>C | CA400860142 | KCNJ2 | c.227G>C (p.Cys76Ser) | COSMIC |
17 | g.70175266G>T | CA400860141 | KCNJ2 | c.227G>T (p.Cys76Phe) | |
17 | g.70175267T>A | CA400860144 | KCNJ2 | c.228T>A (p.Cys76Ter) | |
17 | g.70175267T>C | CA501700374 | KCNJ2 | c.228T>C (p.Cys76=) | |
17 | g.70175267T>G | CA400860145 | KCNJ2 | c.228T>G (p.Cys76Trp) | |
17 | g.70175268G>A | CA400860146 | KCNJ2 | c.229G>A (p.Val77Met) | |
17 | g.70175268G>C | CA400860147 | KCNJ2 | c.229G>C (p.Val77Leu) | |
17 | g.70175268G>T | CA400860148 | KCNJ2 | c.229G>T (p.Val77Leu) | |
17 | g.70175269T>A | CA400860149 | KCNJ2 | c.230T>A (p.Val77Glu) | |
17 | g.70175269T>C | CA400860150 | KCNJ2 | c.230T>C (p.Val77Ala) | |
17 | g.70175269T>G | CA400860151 | KCNJ2 | c.230T>G (p.Val77Gly) | |
17 | g.70175270G>A | CA8738704 | KCNJ2 | c.231G>A (p.Val77=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70175270G>C | CA501700382 | KCNJ2 | c.231G>C (p.Val77=) | gnomAD v4 |
17 | g.70175270G= | CA2272996498 | KCNJ2 | c.231G= (p.Val77=) | |
17 | g.70175270G>T | CA501700381 | KCNJ2 | c.231G>T (p.Val77=) | |
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) |