| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.80105796del | CA2965194761 | GAA | c.594del (p.His199MetfsTer22) c.594del (p.His199MetfsTer?) | |
| 17 | g.80105796G>A | CA502177552 | GAA | c.594G>A (p.Pro198=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80105796G>C | CA502177553 | GAA | c.594G>C (p.Pro198=) | ClinVar dbSNP gnomAD v4 |
| 17 | g.80105796G= | CA2277811241 | GAA | c.594G= (p.Pro198=) | dbSNP |
| 17 | g.80105796G>T | CA502177555 | GAA | c.594G>T (p.Pro198=) | ClinVar dbSNP gnomAD v4 |
| 17 | g.80105797C>A | CA401362217 | GAA | c.595C>A (p.His199Asn) | |
| 17 | g.80105797C= | CA3227603104 | GAA | c.595C= (p.His199=) | dbSNP |
| 17 | g.80105797C>G | CA401362219 | GAA | c.595C>G (p.His199Asp) | |
| 17 | g.80105797C>T | CA401362222 | GAA | c.595C>T (p.His199Tyr) | dbSNP gnomAD v4 COSMIC |
| 17 | g.80105797_80105798del | CA2965194790 | GAA | c.595_596del (p.His199CysfsTer?) | |
| 17 | g.80105797_80105798delinsTG | CA2580095300 | GAA | c.595_596delinsTG (p.His199Cys) | ClinVar |
| 17 | g.80105797_80105798insG | CA2965194801 | GAA | c.595_596insG (p.His199ArgfsTer?) | |
| 17 | g.80105798A= | CA2277811242 | GAA | c.596A= (p.His199=) | dbSNP |
| 17 | g.80105798A>C | CA401362227 | GAA | c.596A>C (p.His199Pro) | |
| 17 | g.80105798A>G | CA145785 | GAA | c.596A>G (p.His199Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80105798A>T | CA401362225 | GAA | c.596A>T (p.His199Leu) | ClinVar dbSNP gnomAD v4 |
| 17 | g.80105798_80105802delinsGTGT | CA2580095301 | GAA | c.596_600delinsGTGT (p.His199ArgfsTer22) c.596_600delinsGTGT (p.His199ArgfsTer?) | ClinVar dbSNP |
| 17 | g.80105799T>A | CA401362231 | GAA | c.597T>A (p.His199Gln) | |
| 17 | g.80105799T>C | CA502177561 | GAA | c.597T>C (p.His199=) | |
| 17 | g.80105799T>G | CA401362232 | GAA | c.597T>G (p.His199Gln) | |
| 17 | g.80105800G>A | CA401362233 | GAA | c.598G>A (p.Val200Ile) | |
| 17 | g.80105800G>C | CA401362234 | GAA | c.598G>C (p.Val200Leu) | |
| 17 | g.80105800G= | CA2277811243 | GAA | c.598G= (p.Val200=) | dbSNP |
| 17 | g.80105800G>T | CA401362236 | GAA | c.598G>T (p.Val200Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80105800dup | CA2965194822 | GAA | c.598dup (p.Val200GlyfsTer?) | |
| 17 | g.80105801T>A | CA8814938 | GAA | c.599T>A (p.Val200Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.80105801T>C | CA401362241 | GAA | c.599T>C (p.Val200Ala) | |
| 17 | g.80105801T>G | CA401362243 | GAA | c.599T>G (p.Val200Gly) | |
| 17 | g.80105801T= | CA2277811244 | GAA | c.599T= (p.Val200=) | dbSNP |
| 17 | g.80105802C>A | CA502177568 | GAA | c.600C>A (p.Val200=) | |
| 17 | g.80105802C= | CA2277811245 | GAA | c.600C= (p.Val200=) | dbSNP |
| 17 | g.80105802C>G | CA502177570 | GAA | c.600C>G (p.Val200=) | |
| 17 | g.80105802C>T | CA8814939 | GAA | c.600C>T (p.Val200=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80105803dup | CA2965194874 | GAA | c.601dup (p.His201ProfsTer?) | |
| 17 | g.80105803del | CA2965194876 | GAA | c.601del (p.His201ThrfsTer20) c.601del (p.His201ThrfsTer?) | |
| 17 | g.80105803C>A | CA401362247 | GAA | c.601C>A (p.His201Asn) | |
| 17 | g.80105803C= | CA2277811246 | GAA | c.601C= (p.His201=) | dbSNP |
| 17 | g.80105803C>G | CA401362249 | GAA | c.601C>G (p.His201Asp) | |
| 17 | g.80105803C>T | CA401362251 | GAA | c.601C>T (p.His201Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.80105805_80105806del | CA2965194888 | GAA | c.603_604del (p.His201GlnfsTer?) | |
| 17 | g.80105804A= | CA3227603165 | GAA | c.602A= (p.His201=) | dbSNP |
| 17 | g.80105804A>C | CA401362254 | GAA | c.602A>C (p.His201Pro) | |
| 17 | g.80105804A>G | CA401362256 | GAA | c.602A>G (p.His201Arg) | dbSNP gnomAD v4 |
| 17 | g.80105804A>T | CA401362253 | GAA | c.602A>T (p.His201Leu) | |
| 17 | g.80105805C>A | CA401362257 | GAA | c.603C>A (p.His201Gln) | |
| 17 | g.80105805C= | CA2277811247 | GAA | c.603C= (p.His201=) | dbSNP |
| 17 | g.80105805C>G | CA401362259 | GAA | c.603C>G (p.His201Gln) | |
| 17 | g.80105805C>T | CA502177577 | GAA | c.603C>T (p.His201=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.80105806A>C | CA401362260 | GAA | c.604A>C (p.Ser202Arg) | |
| 17 | g.80105806A>G | CA401362262 | GAA | c.604A>G (p.Ser202Gly) |