Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.70170730_70175461del | CA1139665860 | KCNJ2 | c.-217+1029_422del c.-217+1873_422del | ClinVar |
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) | |
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) |