Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.70170730_70175461del | CA1139665860 | KCNJ2 | c.-217+1029_422del c.-217+1873_422del | ClinVar |
17 | g.70175305_70175317delinsGCCTGGCTTTCGT | CA2272996511 | KCNJ2 | c.266_278delinsGCCTGGCTTTCGT (p.Cys89=) | |
17 | g.70175310_70175321del | CA347345 | KCNJ2 | c.271_282del (p.Ala91_Leu94del) | ClinVar dbSNP |
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=) |