Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.70170730_70175461del | CA1139665860 | KCNJ2 | c.-217+1029_422del c.-217+1873_422del | ClinVar |
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) | |
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) | |
17 | g.70175285G>A | CA501700412 | KCNJ2 | c.246G>A (p.Arg82=) | ClinVar |
17 | g.70175285G>C | CA501700413 | KCNJ2 | c.246G>C (p.Arg82=) | |
17 | g.70175285G>T | CA501700416 | KCNJ2 | c.246G>T (p.Arg82=) | gnomAD v4 |
17 | g.70175286T>A | CA400860184 | KCNJ2 | c.247T>A (p.Trp83Arg) | |
17 | g.70175286T>C | CA400860183 | KCNJ2 | c.247T>C (p.Trp83Arg) | |
17 | g.70175286T>G | CA400860182 | KCNJ2 | c.247T>G (p.Trp83Gly) | |
17 | g.70175287G>A | CA400860185 | KCNJ2 | c.248G>A (p.Trp83Ter) | |
17 | g.70175287G>C | CA400860187 | KCNJ2 | c.248G>C (p.Trp83Ser) | |
17 | g.70175287G>T | CA400860186 | KCNJ2 | c.248G>T (p.Trp83Leu) | |
17 | g.70175288G>A | CA400860188 | KCNJ2 | c.249G>A (p.Trp83Ter) | |
17 | g.70175288G>C | CA400860189 | KCNJ2 | c.249G>C (p.Trp83Cys) | |
17 | g.70175288G>T | CA400860190 | KCNJ2 | c.249G>T (p.Trp83Cys) | |
17 | g.70175289A>C | CA400860191 | KCNJ2 | c.250A>C (p.Met84Leu) | |
17 | g.70175289A>G | CA400860192 | KCNJ2 | c.250A>G (p.Met84Val) | |
17 | g.70175289A>T | CA400860193 | KCNJ2 | c.250A>T (p.Met84Leu) | |
17 | g.70175290T>A | CA400860194 | KCNJ2 | c.251T>A (p.Met84Lys) | |
17 | g.70175290T>C | CA400860195 | KCNJ2 | c.251T>C (p.Met84Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.70175290T>G | CA400860196 | KCNJ2 | c.251T>G (p.Met84Arg) | |
17 | g.70175290T= | CA2272996506 | KCNJ2 | c.251T= (p.Met84=) | |
17 | g.70175291G>A | CA400860197 | KCNJ2 | c.252G>A (p.Met84Ile) | ClinVar |
17 | g.70175291G>C | CA400860198 | KCNJ2 | c.252G>C (p.Met84Ile) | |
17 | g.70175291G>T | CA400860199 | KCNJ2 | c.252G>T (p.Met84Ile) | |
17 | g.70175292C>A | CA400860200 | KCNJ2 | c.253C>A (p.Leu85Met) | |
17 | g.70175292C= | CA2272996507 | KCNJ2 | c.253C= (p.Leu85=) | |
17 | g.70175292C>G | CA293702907 | KCNJ2 | c.253C>G (p.Leu85Val) | dbSNP |
17 | g.70175292C>T | CA501700431 | KCNJ2 | c.253C>T (p.Leu85=) | |
17 | g.70175293T>A | CA400860201 | KCNJ2 | c.254T>A (p.Leu85Gln) | |
17 | g.70175293T>C | CA400860202 | KCNJ2 | c.254T>C (p.Leu85Pro) | |
17 | g.70175293T>G | CA400860203 | KCNJ2 | c.254T>G (p.Leu85Arg) | |
17 | g.70175294G>A | CA501700435 | KCNJ2 | c.255G>A (p.Leu85=) | |
17 | g.70175294G>C | CA501700436 | KCNJ2 | c.255G>C (p.Leu85=) | |
17 | g.70175294G>T | CA501700437 | KCNJ2 | c.255G>T (p.Leu85=) | |
17 | g.70175295G>A | CA400860204 | KCNJ2 | c.256G>A (p.Val86Ile) | ClinVar COSMIC |
17 | g.70175295G>C | CA400860205 | KCNJ2 | c.256G>C (p.Val86Leu) | |
17 | g.70175295G= | CA2272996508 | KCNJ2 | c.256G= (p.Val86=) | |
17 | g.70175295G>T | CA302029 | KCNJ2 | c.256G>T (p.Val86Phe) | ClinVar dbSNP |
17 | g.70175296T>A | CA400860206 | KCNJ2 | c.257T>A (p.Val86Asp) | |
17 | g.70175296T>C | CA400860207 | KCNJ2 | c.257T>C (p.Val86Ala) | |
17 | g.70175296T>G | CA400860208 | KCNJ2 | c.257T>G (p.Val86Gly) | |
17 | g.70175297T>A | CA501700444 | KCNJ2 | c.258T>A (p.Val86=) | |
17 | g.70175297T>C | CA501700445 | KCNJ2 | c.258T>C (p.Val86=) | |
17 | g.70175297T>G | CA501700446 | KCNJ2 | c.258T>G (p.Val86=) | |
17 | g.70175298A= | CA2272996509 | KCNJ2 | c.259A= (p.Ile87=) | |
17 | g.70175298A>C | CA400860209 | KCNJ2 | c.259A>C (p.Ile87Leu) | |
17 | g.70175298A>G | CA8738705 | KCNJ2 | c.259A>G (p.Ile87Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.70175298A>T | CA400860210 | KCNJ2 | c.259A>T (p.Ile87Phe) | |
17 | g.70175299T>A | CA400860213 | KCNJ2 | c.260T>A (p.Ile87Asn) | |
17 | g.70175299T>C | CA400860212 | KCNJ2 | c.260T>C (p.Ile87Thr) | |
17 | g.70175299T>G | CA400860211 | KCNJ2 | c.260T>G (p.Ile87Ser) | |
17 | g.70175300C>A | CA501700451 | KCNJ2 | c.261C>A (p.Ile87=) | |
17 | g.70175300C= | CA2272996510 | KCNJ2 | c.261C= (p.Ile87=) | |
17 | g.70175300C>G | CA400860214 | KCNJ2 | c.261C>G (p.Ile87Met) | ClinVar |
17 | g.70175300C>T | CA501700455 | KCNJ2 | c.261C>T (p.Ile87=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.70175301T>A | CA400860215 | KCNJ2 | c.262T>A (p.Phe88Ile) | |
17 | g.70175301T>C | CA400860216 | KCNJ2 | c.262T>C (p.Phe88Leu) | |
17 | g.70175301T>G | CA400860217 | KCNJ2 | c.262T>G (p.Phe88Val) | |
17 | g.70175302T>A | CA400860218 | KCNJ2 | c.263T>A (p.Phe88Tyr) | |
17 | g.70175302T>C | CA400860219 | KCNJ2 | c.263T>C (p.Phe88Ser) | |
17 | g.70175302T>G | CA400860220 | KCNJ2 | c.263T>G (p.Phe88Cys) | |
17 | g.70175303C>A | CA400860221 | KCNJ2 | c.264C>A (p.Phe88Leu) | |
17 | g.70175303C>G | CA400860222 | KCNJ2 | c.264C>G (p.Phe88Leu) | |
17 | g.70175303C>T | CA501700462 | KCNJ2 | c.264C>T (p.Phe88=) | |
17 | g.70175304T>A | CA400860223 | KCNJ2 | c.265T>A (p.Cys89Ser) | |
17 | g.70175304T>C | CA400860224 | KCNJ2 | c.265T>C (p.Cys89Arg) | ClinVar |
17 | g.70175304T>G | CA400860225 | KCNJ2 | c.265T>G (p.Cys89Gly) | |
17 | g.70175305G>A | CA400860227 | KCNJ2 | c.266G>A (p.Cys89Tyr) | |
17 | g.70175305G>C | CA400860228 | KCNJ2 | c.266G>C (p.Cys89Ser) | |
17 | g.70175305G>T | CA400860226 | KCNJ2 | c.266G>T (p.Cys89Phe) | |
17 | g.70175305_70175317delinsGCCTGGCTTTCGT | CA2272996511 | KCNJ2 | c.266_278delinsGCCTGGCTTTCGT (p.Cys89=) | |
17 | g.70175306C>A | CA400860229 | KCNJ2 | c.267C>A (p.Cys89Ter) | |
17 | g.70175306C= | CA2272996512 | KCNJ2 | c.267C= (p.Cys89=) | |
17 | g.70175306C>G | CA400860230 | KCNJ2 | c.267C>G (p.Cys89Trp) | |
17 | g.70175306C>T | CA501700469 | KCNJ2 | c.267C>T (p.Cys89=) | ClinVar dbSNP gnomAD v4 |
17 | g.70175310_70175321del | CA347345 | KCNJ2 | c.271_282del (p.Ala91_Leu94del) | ClinVar dbSNP |
17 | g.70175307C>A | CA400860231 | KCNJ2 | c.268C>A (p.Leu90Met) | |
17 | g.70175307C>G | CA400860232 | KCNJ2 | c.268C>G (p.Leu90Val) | |
17 | g.70175307C>T | CA501700472 | KCNJ2 | c.268C>T (p.Leu90=) | |
17 | g.70175308T>A | CA400860235 | KCNJ2 | c.269T>A (p.Leu90Gln) | |
17 | g.70175308T>C | CA400860234 | KCNJ2 | c.269T>C (p.Leu90Pro) | |
17 | g.70175308T>G | CA400860233 | KCNJ2 | c.269T>G (p.Leu90Arg) | ClinVar |
17 | g.70175309G>A | CA501700476 | KCNJ2 | c.270G>A (p.Leu90=) | |
17 | g.70175309G>C | CA501700477 | KCNJ2 | c.270G>C (p.Leu90=) | |
17 | g.70175309G>T | CA501700479 | KCNJ2 | c.270G>T (p.Leu90=) | |
17 | g.70175310G>A | CA400860236 | KCNJ2 | c.271G>A (p.Ala91Thr) | ClinVar dbSNP |
17 | g.70175310G>C | CA400860237 | KCNJ2 | c.271G>C (p.Ala91Pro) | |
17 | g.70175310G>T | CA400860238 | KCNJ2 | c.271G>T (p.Ala91Ser) | COSMIC |
17 | g.70175311C>A | CA400860239 | KCNJ2 | c.272C>A (p.Ala91Asp) | |
17 | g.70175311C= | CA2272996513 | KCNJ2 | c.272C= (p.Ala91=) | |
17 | g.70175311C>G | CA400860240 | KCNJ2 | c.272C>G (p.Ala91Gly) | |
17 | g.70175311C>T | CA8738706 | KCNJ2 | c.272C>T (p.Ala91Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70175312T>A | CA501700490 | KCNJ2 | c.273T>A (p.Ala91=) | gnomAD v4 COSMIC |
17 | g.70175312T>C | CA501700484 | KCNJ2 | c.273T>C (p.Ala91=) | |
17 | g.70175312T>G | CA501700487 | KCNJ2 | c.273T>G (p.Ala91=) | COSMIC |
17 | g.70175313T>A | CA400860242 | KCNJ2 | c.274T>A (p.Phe92Ile) | |
17 | g.70175313T>C | CA400860243 | KCNJ2 | c.274T>C (p.Phe92Leu) | |
17 | g.70175313T>G | CA400860241 | KCNJ2 | c.274T>G (p.Phe92Val) | |
17 | g.70175314T>A | CA400860245 | KCNJ2 | c.275T>A (p.Phe92Tyr) | |
17 | g.70175314T>C | CA400860244 | KCNJ2 | c.275T>C (p.Phe92Ser) | |
17 | g.70175314T>G | CA400860246 | KCNJ2 | c.275T>G (p.Phe92Cys) | |
17 | g.70175315C>A | CA400860247 | KCNJ2 | c.276C>A (p.Phe92Leu) | |
17 | g.70175315C= | CA2272996514 | KCNJ2 | c.276C= (p.Phe92=) | |
17 | g.70175315C>G | CA400860248 | KCNJ2 | c.276C>G (p.Phe92Leu) | |
17 | g.70175315C>T | CA8738707 | KCNJ2 | c.276C>T (p.Phe92=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.70175316G>A | CA128946 | KCNJ2 | c.277G>A (p.Val93Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.70175316G>C | CA400860249 | KCNJ2 | c.277G>C (p.Val93Leu) | gnomAD v4 |
17 | g.70175316G= | CA2272996515 | KCNJ2 | c.277G= (p.Val93=) | |
17 | g.70175316G>T | CA400860250 | KCNJ2 | c.277G>T (p.Val93Phe) | |
17 | g.70175317T>A | CA400860251 | KCNJ2 | c.278T>A (p.Val93Asp) | |
17 | g.70175317T>C | CA293702908 | KCNJ2 | c.278T>C (p.Val93Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.70175317T>G | CA400860252 | KCNJ2 | c.278T>G (p.Val93Gly) | |
17 | g.70175317T= | CA2272996516 | KCNJ2 | c.278T= (p.Val93=) | |
17 | g.70175318C>A | CA501700504 | KCNJ2 | c.279C>A (p.Val93=) | gnomAD v4 |
17 | g.70175318C= | CA2272996517 | KCNJ2 | c.279C= (p.Val93=) | |
17 | g.70175318C>G | CA501700506 | KCNJ2 | c.279C>G (p.Val93=) | |
17 | g.70175318C>T | CA8738708 | KCNJ2 | c.279C>T (p.Val93=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70175319C>A | CA400860253 | KCNJ2 | c.280C>A (p.Leu94Met) | |
17 | g.70175319C>G | CA400860254 | KCNJ2 | c.280C>G (p.Leu94Val) | |
17 | g.70175319C>T | CA501700507 | KCNJ2 | c.280C>T (p.Leu94=) | |
17 | g.70175320T>A | CA400860255 | KCNJ2 | c.281T>A (p.Leu94Gln) | |
17 | g.70175320T>C | CA400860256 | KCNJ2 | c.281T>C (p.Leu94Pro) | |
17 | g.70175320T>G | CA400860257 | KCNJ2 | c.281T>G (p.Leu94Arg) | dbSNP |
17 | g.70175320T= | CA2272996518 | KCNJ2 | c.281T= (p.Leu94=) | |
17 | g.70175321G>A | CA8738709 | KCNJ2 | c.282G>A (p.Leu94=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70175321G>C | CA501700515 | KCNJ2 | c.282G>C (p.Leu94=) | |
17 | g.70175321G= | CA2272996519 | KCNJ2 | c.282G= (p.Leu94=) | |
17 | g.70175321G>T | CA501700516 | KCNJ2 | c.282G>T (p.Leu94=) | |
17 | g.70175322T>A | CA400860260 | KCNJ2 | c.283T>A (p.Ser95Thr) | dbSNP |
17 | g.70175322T>C | CA400860258 | KCNJ2 | c.283T>C (p.Ser95Pro) | |
17 | g.70175322T>G | CA400860259 | KCNJ2 | c.283T>G (p.Ser95Ala) | |
17 | g.70175322T= | CA2272996520 | KCNJ2 | c.283T= (p.Ser95=) | |
17 | g.70175323_70175334del | CA2695226994 | KCNJ2 | c.284_295del (p.Ser95_Phe98del) | |
17 | g.70175323C>A | CA400860261 | KCNJ2 | c.284C>A (p.Ser95Ter) | |
17 | g.70175323C>G | CA400860262 | KCNJ2 | c.284C>G (p.Ser95Ter) | COSMIC |
17 | g.70175323C>T | CA400860263 | KCNJ2 | c.284C>T (p.Ser95Leu) | |
17 | g.70175324A= | CA2272996521 | KCNJ2 | c.285A= (p.Ser95=) | |
17 | g.70175324A>C | CA501700351 | KCNJ2 | c.285A>C (p.Ser95=) | gnomAD v4 |
17 | g.70175324A>G | CA501700354 | KCNJ2 | c.285A>G (p.Ser95=) | |
17 | g.70175324A>T | CA501700355 | KCNJ2 | c.285A>T (p.Ser95=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.70175324_70175335del | CA2580095101 | KCNJ2 | c.285_296del (p.Trp96_Phe99del) | ClinVar dbSNP |
17 | g.70175325T>A | CA400860264 | KCNJ2 | c.286T>A (p.Trp96Arg) | |
17 | g.70175325T>C | CA400860265 | KCNJ2 | c.286T>C (p.Trp96Arg) | |
17 | g.70175325T>G | CA400860266 | KCNJ2 | c.286T>G (p.Trp96Gly) | |
17 | g.70175326G>A | CA400860267 | KCNJ2 | c.287G>A (p.Trp96Ter) | gnomAD v4 |
17 | g.70175326G>C | CA400860268 | KCNJ2 | c.287G>C (p.Trp96Ser) | |
17 | g.70175326G>T | CA400860269 | KCNJ2 | c.287G>T (p.Trp96Leu) | |
17 | g.70175327G>A | CA400860270 | KCNJ2 | c.288G>A (p.Trp96Ter) | |
17 | g.70175327G>C | CA400860271 | KCNJ2 | c.288G>C (p.Trp96Cys) | |
17 | g.70175327G>T | CA400860272 | KCNJ2 | c.288G>T (p.Trp96Cys) | |
17 | g.70175328C>A | CA400860273 | KCNJ2 | c.289C>A (p.Leu97Met) | ClinVar dbSNP |
17 | g.70175328C>G | CA400860274 | KCNJ2 | c.289C>G (p.Leu97Val) | |
17 | g.70175328C>T | CA501700359 | KCNJ2 | c.289C>T (p.Leu97=) | |
17 | g.70175328_70175331delinsCTGT | CA2272996522 | KCNJ2 | c.289_292delinsCTGT (p.Leu97=) | |
17 | g.70175329T>A | CA400860275 | KCNJ2 | c.290T>A (p.Leu97Gln) | |
17 | g.70175329T>C | CA400860276 | KCNJ2 | c.290T>C (p.Leu97Pro) | ClinVar dbSNP COSMIC |
17 | g.70175329T>G | CA400860277 | KCNJ2 | c.290T>G (p.Leu97Arg) | |
17 | g.70175329T= | CA2272996524 | KCNJ2 | c.290T= (p.Leu97=) | |
17 | g.70175330_70175332del | CA2272996523 | KCNJ2 | c.291_293del (p.Phe98del) | ClinVar dbSNP gnomAD v4 |
17 | g.70175330G>A | CA501700361 | KCNJ2 | c.291G>A (p.Leu97=) | |
17 | g.70175330G>C | CA501700362 | KCNJ2 | c.291G>C (p.Leu97=) | |
17 | g.70175330G>T | CA501700363 | KCNJ2 | c.291G>T (p.Leu97=) | |
17 | g.70175330_70175331insGG | CA293702909 | KCNJ2 | c.291_292insGG (p.Phe98GlyfsTer9) | dbSNP |
17 | g.70175331T>A | CA400860278 | KCNJ2 | c.292T>A (p.Phe98Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70175331T>C | CA400860279 | KCNJ2 | c.292T>C (p.Phe98Leu) | |
17 | g.70175331T>G | CA8738710 | KCNJ2 | c.292T>G (p.Phe98Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.70175331T= | CA2272996525 | KCNJ2 | c.292T= (p.Phe98=) | |
17 | g.70175332T>A | CA400860280 | KCNJ2 | c.293T>A (p.Phe98Tyr) | |
17 | g.70175332T>C | CA400860281 | KCNJ2 | c.293T>C (p.Phe98Ser) | |
17 | g.70175332T>G | CA400860282 | KCNJ2 | c.293T>G (p.Phe98Cys) | gnomAD v4 |
17 | g.70175333T>A | CA400860283 | KCNJ2 | c.294T>A (p.Phe98Leu) | |
17 | g.70175333T>C | CA501700368 | KCNJ2 | c.294T>C (p.Phe98=) | gnomAD v4 |
17 | g.70175333T>G | CA400860284 | KCNJ2 | c.294T>G (p.Phe98Leu) | |
17 | g.70175334T>A | CA400860286 | KCNJ2 | c.295T>A (p.Phe99Ile) | |
17 | g.70175334T>C | CA400860287 | KCNJ2 | c.295T>C (p.Phe99Leu) | |
17 | g.70175334T>G | CA400860285 | KCNJ2 | c.295T>G (p.Phe99Val) | |
17 | g.70175335T>A | CA400860288 | KCNJ2 | c.296T>A (p.Phe99Tyr) | |
17 | g.70175335T>C | CA400860289 | KCNJ2 | c.296T>C (p.Phe99Ser) | |
17 | g.70175335T>G | CA400860290 | KCNJ2 | c.296T>G (p.Phe99Cys) | |
17 | g.70175336T>A | CA400860291 | KCNJ2 | c.297T>A (p.Phe99Leu) | |
17 | g.70175336T>C | CA501700369 | KCNJ2 | c.297T>C (p.Phe99=) | ClinVar |
17 | g.70175336T>G | CA400860292 | KCNJ2 | c.297T>G (p.Phe99Leu) | |
17 | g.70175336_70175343delinsTGGCTGTG | CA2272996526 | KCNJ2 | c.297_304delinsTGGCTGTG (p.Phe99=) | |
17 | g.70175337G>A | CA400860295 | KCNJ2 | c.298G>A (p.Gly100Ser) | |
17 | g.70175337G>C | CA400860293 | KCNJ2 | c.298G>C (p.Gly100Arg) | |
17 | g.70175337G>T | CA400860294 | KCNJ2 | c.298G>T (p.Gly100Cys) | |
17 | g.70175337_70175343del | CA293702910 | KCNJ2 | c.298_304del (p.Gly100CysfsTer4) | dbSNP |
17 | g.70175338G>A | CA400860296 | KCNJ2 | c.299G>A (p.Gly100Asp) | |
17 | g.70175338G>C | CA400860297 | KCNJ2 | c.299G>C (p.Gly100Ala) | |
17 | g.70175338G= | CA2272996527 | KCNJ2 | c.299G= (p.Gly100=) | |
17 | g.70175338G>T | CA400860298 | KCNJ2 | c.299G>T (p.Gly100Val) | ClinVar dbSNP |
17 | g.70175339C>A | CA8738711 | KCNJ2 | c.300C>A (p.Gly100=) | dbSNP ExAC |
17 | g.70175339C= | CA2272996528 | KCNJ2 | c.300C= (p.Gly100=) | |
17 | g.70175339C>G | CA501700373 | KCNJ2 | c.300C>G (p.Gly100=) | |
17 | g.70175339C>T | CA501700372 | KCNJ2 | c.300C>T (p.Gly100=) | |
17 | g.70175340T>A | CA400860299 | KCNJ2 | c.301T>A (p.Cys101Ser) | |
17 | g.70175340T>C | CA145016 | KCNJ2 | c.301T>C (p.Cys101Arg) | ClinVar dbSNP |
17 | g.70175340T>G | CA400860300 | KCNJ2 | c.301T>G (p.Cys101Gly) | |
17 | g.70175340T= | CA2272996529 | KCNJ2 | c.301T= (p.Cys101=) | |
17 | g.70175345_70175346del | CA2639593662 | KCNJ2 | c.306_307del (p.Phe103LeufsTer?) | gnomAD v4 |
17 | g.70175341G>A | CA400860301 | KCNJ2 | c.302G>A (p.Cys101Tyr) | gnomAD v4 |
17 | g.70175341G>C | CA400860302 | KCNJ2 | c.302G>C (p.Cys101Ser) | |
17 | g.70175341G= | CA2272996530 | KCNJ2 | c.302G= (p.Cys101=) | |
17 | g.70175341G>T | CA8738712 | KCNJ2 | c.302G>T (p.Cys101Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.70175342T>A | CA400860303 | KCNJ2 | c.303T>A (p.Cys101Ter) | |
17 | g.70175342T>C | CA8738713 | KCNJ2 | c.303T>C (p.Cys101=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70175342T>G | CA400860304 | KCNJ2 | c.303T>G (p.Cys101Trp) | |
17 | g.70175342T= | CA2272996531 | KCNJ2 | c.303T= (p.Cys101=) | |
17 | g.70175343G>A | CA8738714 | KCNJ2 | c.304G>A (p.Val102Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.70175343G>C | CA400860305 | KCNJ2 | c.304G>C (p.Val102Leu) | |
17 | g.70175343G= | CA2272996532 | KCNJ2 | c.304G= (p.Val102=) | |
17 | g.70175343G>T | CA400860306 | KCNJ2 | c.304G>T (p.Val102Leu) | COSMIC |
17 | g.70175344T>A | CA400860307 | KCNJ2 | c.305T>A (p.Val102Glu) | |
17 | g.70175344T>C | CA400860308 | KCNJ2 | c.305T>C (p.Val102Ala) | |
17 | g.70175344T>G | CA400860309 | KCNJ2 | c.305T>G (p.Val102Gly) | |
17 | g.70175345G>A | CA501700384 | KCNJ2 | c.306G>A (p.Val102=) | gnomAD v4 |
17 | g.70175345G>C | CA501700385 | KCNJ2 | c.306G>C (p.Val102=) | ClinVar dbSNP |
17 | g.70175345G>T | CA501700386 | KCNJ2 | c.306G>T (p.Val102=) | |
17 | g.70175346T>A | CA400860310 | KCNJ2 | c.307T>A (p.Phe103Ile) | |
17 | g.70175346T>C | CA400860311 | KCNJ2 | c.307T>C (p.Phe103Leu) | gnomAD v4 |
17 | g.70175346T>G | CA400860312 | KCNJ2 | c.307T>G (p.Phe103Val) | |
17 | g.70175347T>A | CA400860315 | KCNJ2 | c.308T>A (p.Phe103Tyr) | |
17 | g.70175347T>C | CA400860313 | KCNJ2 | c.308T>C (p.Phe103Ser) | |
17 | g.70175347T>G | CA400860314 | KCNJ2 | c.308T>G (p.Phe103Cys) | |
17 | g.70175348T>A | CA400860316 | KCNJ2 | c.309T>A (p.Phe103Leu) | |
17 | g.70175348T>C | CA501700390 | KCNJ2 | c.309T>C (p.Phe103=) | |
17 | g.70175348T>G | CA400860317 | KCNJ2 | c.309T>G (p.Phe103Leu) | |
17 | g.70175349T>A | CA400860318 | KCNJ2 | c.310T>A (p.Trp104Arg) | |
17 | g.70175349T>C | CA400860319 | KCNJ2 | c.310T>C (p.Trp104Arg) | |
17 | g.70175349T>G | CA400860320 | KCNJ2 | c.310T>G (p.Trp104Gly) | |
17 | g.70175350G>A | CA400860321 | KCNJ2 | c.311G>A (p.Trp104Ter) | |
17 | g.70175350G>C | CA400860322 | KCNJ2 | c.311G>C (p.Trp104Ser) | |
17 | g.70175350G>T | CA400860323 | KCNJ2 | c.311G>T (p.Trp104Leu) | |
17 | g.70175351G>A | CA400860324 | KCNJ2 | c.312G>A (p.Trp104Ter) | |
17 | g.70175351G>C | CA400860325 | KCNJ2 | c.312G>C (p.Trp104Cys) | |
17 | g.70175351G= | CA2272996533 | KCNJ2 | c.312G= (p.Trp104=) | |
17 | g.70175351G>T | CA293702911 | KCNJ2 | c.312G>T (p.Trp104Cys) | dbSNP |
17 | g.70175352T>A | CA8738715 | KCNJ2 | c.313T>A (p.Leu105Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.70175352T>C | CA501700398 | KCNJ2 | c.313T>C (p.Leu105=) | gnomAD v4 |
17 | g.70175352T>G | CA400860326 | KCNJ2 | c.313T>G (p.Leu105Val) | |
17 | g.70175352T= | CA2272996534 | KCNJ2 | c.313T= (p.Leu105=) | |
17 | g.70175353T>A | CA400860327 | KCNJ2 | c.314T>A (p.Leu105Ter) | |
17 | g.70175353T>C | CA400860328 | KCNJ2 | c.314T>C (p.Leu105Ser) | |
17 | g.70175353T>G | CA400860329 | KCNJ2 | c.314T>G (p.Leu105Trp) | gnomAD v4 |
17 | g.70175354G>A | CA501700400 | KCNJ2 | c.315G>A (p.Leu105=) | gnomAD v4 |
17 | g.70175354G>C | CA400860330 | KCNJ2 | c.315G>C (p.Leu105Phe) | |
17 | g.70175354G>T | CA400860331 | KCNJ2 | c.315G>T (p.Leu105Phe) | |
17 | g.70175355A>C | CA400860332 | KCNJ2 | c.316A>C (p.Ile106Leu) | |
17 | g.70175355A>G | CA400860333 | KCNJ2 | c.316A>G (p.Ile106Val) | |
17 | g.70175355A>T | CA400860334 | KCNJ2 | c.316A>T (p.Ile106Leu) | |
17 | g.70175356T>A | CA400860335 | KCNJ2 | c.317T>A (p.Ile106Lys) | |
17 | g.70175356T>C | CA400860336 | KCNJ2 | c.317T>C (p.Ile106Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.70175356T>G | CA400860337 | KCNJ2 | c.317T>G (p.Ile106Arg) | |
17 | g.70175356T= | CA2272996535 | KCNJ2 | c.317T= (p.Ile106=) | |
17 | g.70175357A>C | CA501700406 | KCNJ2 | c.318A>C (p.Ile106=) | |
17 | g.70175357A>G | CA400860338 | KCNJ2 | c.318A>G (p.Ile106Met) | |
17 | g.70175357A>T | CA501700408 | KCNJ2 | c.318A>T (p.Ile106=) | |
17 | g.70175358G>A | CA400860341 | KCNJ2 | c.319G>A (p.Ala107Thr) | |
17 | g.70175358G>C | CA400860340 | KCNJ2 | c.319G>C (p.Ala107Pro) | |
17 | g.70175358G>T | CA400860339 | KCNJ2 | c.319G>T (p.Ala107Ser) | |
17 | g.70175359C>A | CA400860342 | KCNJ2 | c.320C>A (p.Ala107Asp) | |
17 | g.70175359C>G | CA400860343 | KCNJ2 | c.320C>G (p.Ala107Gly) | |
17 | g.70175359C>T | CA400860344 | KCNJ2 | c.320C>T (p.Ala107Val) | |
17 | g.70175360T>A | CA501700414 | KCNJ2 | c.321T>A (p.Ala107=) | |
17 | g.70175360T>C | CA501700415 | KCNJ2 | c.321T>C (p.Ala107=) | ClinVar dbSNP |
17 | g.70175360T>G | CA501700417 | KCNJ2 | c.321T>G (p.Ala107=) | |
17 | g.70175360T= | CA2272996536 | KCNJ2 | c.321T= (p.Ala107=) | |
17 | g.70175361C>A | CA400860345 | KCNJ2 | c.322C>A (p.Leu108Met) | |
17 | g.70175361C= | CA2272996537 | KCNJ2 | c.322C= (p.Leu108=) | |
17 | g.70175361C>G | CA400860346 | KCNJ2 | c.322C>G (p.Leu108Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.70175361C>T | CA293702912 | KCNJ2 | c.322C>T (p.Leu108=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70175362T>A | CA400860347 | KCNJ2 | c.323T>A (p.Leu108Gln) | |
17 | g.70175362T>C | CA400860348 | KCNJ2 | c.323T>C (p.Leu108Pro) | |
17 | g.70175362T>G | CA400860349 | KCNJ2 | c.323T>G (p.Leu108Arg) | |
17 | g.70175363G>A | CA293702913 | KCNJ2 | c.324G>A (p.Leu108=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.70175363G>C | CA501700423 | KCNJ2 | c.324G>C (p.Leu108=) | |
17 | g.70175363G= | CA2272996538 | KCNJ2 | c.324G= (p.Leu108=) | |
17 | g.70175363G>T | CA501700424 | KCNJ2 | c.324G>T (p.Leu108=) | |
17 | g.70175364C>A | CA400860350 | KCNJ2 | c.325C>A (p.Leu109Ile) | |
17 | g.70175364C= | CA2272996539 | KCNJ2 | c.325C= (p.Leu109=) | |
17 | g.70175364C>G | CA400860351 | KCNJ2 | c.325C>G (p.Leu109Val) | |
17 | g.70175364C>T | CA400860352 | KCNJ2 | c.325C>T (p.Leu109Phe) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.70175365T>A | CA400860355 | KCNJ2 | c.326T>A (p.Leu109His) | ClinVar |
17 | g.70175365T>C | CA400860354 | KCNJ2 | c.326T>C (p.Leu109Pro) | ClinVar dbSNP |
17 | g.70175365T>G | CA400860353 | KCNJ2 | c.326T>G (p.Leu109Arg) | |
17 | g.70175365T= | CA2272996540 | KCNJ2 | c.326T= (p.Leu109=) | |
17 | g.70175366C>A | CA501700426 | KCNJ2 | c.327C>A (p.Leu109=) | |
17 | g.70175366C= | CA2272996541 | KCNJ2 | c.327C= (p.Leu109=) | |
17 | g.70175366C>G | CA501700427 | KCNJ2 | c.327C>G (p.Leu109=) | gnomAD v4 |
17 | g.70175366C>T | CA8738716 | KCNJ2 | c.327C>T (p.Leu109=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.70175367C>A | CA400860357 | KCNJ2 | c.328C>A (p.His110Asn) | |
17 | g.70175367C= | CA2272996542 | KCNJ2 | c.328C= (p.His110=) | |
17 | g.70175367C>G | CA400860356 | KCNJ2 | c.328C>G (p.His110Asp) | |
17 | g.70175367C>T | CA302032 | KCNJ2 | c.328C>T (p.His110Tyr) | ClinVar dbSNP |
17 | g.70175368A= | CA2272996543 | KCNJ2 | c.329A= (p.His110=) | |
17 | g.70175368A>C | CA400860358 | KCNJ2 | c.329A>C (p.His110Pro) | |
17 | g.70175368A>G | CA8738717 | KCNJ2 | c.329A>G (p.His110Arg) | dbSNP ExAC gnomAD v2 |
17 | g.70175368A>T | CA400860359 | KCNJ2 | c.329A>T (p.His110Leu) | |
17 | g.70175369T>A | CA400860360 | KCNJ2 | c.330T>A (p.His110Gln) | |
17 | g.70175369T>C | CA501700434 | KCNJ2 | c.330T>C (p.His110=) | |
17 | g.70175369T>G | CA400860361 | KCNJ2 | c.330T>G (p.His110Gln) |