| 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.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) |