Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
22 | g.50626170_50626178delinsTGGCCAGAA | CA2410958891 | ARSA | c.955_963delinsTTCTGGCCA (p.Phe319=) c.697_705delinsTTCTGGCCA (p.Phe233=) | |
22 | g.50626176_50626183del | CA10324867 | ARSA | c.955_962del (p.Phe319ArgfsTer?) c.697_704del (p.Phe233ArgfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50626174_50626177delinsCAGA | CA2410958895 | ARSA | c.956_959delinsTCTG (p.Phe319=) c.698_701delinsTCTG (p.Phe233=) | |
22 | g.50626175A= | CA2410958896 | ARSA | c.958T= (p.Trp320=) c.700T= (p.Trp234=) | |
22 | g.50626175A>C | CA10324868 | ARSA | c.958T>G (p.Trp320Gly) c.700T>G (p.Trp234Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50626175A>G | CA412174369 | ARSA | c.958T>C (p.Trp320Arg) c.700T>C (p.Trp234Arg) | |
22 | g.50626175A>T | CA412174372 | ARSA | c.958T>A (p.Trp320Arg) c.700T>A (p.Trp234Arg) | |
22 | g.50626177_50626179del | CA1139667193 | ARSA | c.956_958del (p.Phe319del) c.698_700del (p.Phe233del) | ClinVar dbSNP |
22 | g.50626176G>A | CA515248943 | ARSA | c.957C>T (p.Phe319=) c.699C>T (p.Phe233=) | gnomAD v4 |
22 | g.50626176G>C | CA412174377 | ARSA | c.957C>G (p.Phe319Leu) c.699C>G (p.Phe233Leu) | gnomAD v4 |
22 | g.50626176G>T | CA412174375 | ARSA | c.957C>A (p.Phe319Leu) c.699C>A (p.Phe233Leu) | |
22 | g.50626177A= | CA2410958897 | ARSA | c.956T= (p.Phe319=) c.698T= (p.Phe233=) | |
22 | g.50626177A>C | CA412174383 | ARSA | c.956T>G (p.Phe319Cys) c.698T>G (p.Phe233Cys) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50626177A>G | CA412174384 | ARSA | c.956T>C (p.Phe319Ser) c.698T>C (p.Phe233Ser) | |
22 | g.50626177A>T | CA412174388 | ARSA | c.956T>A (p.Phe319Tyr) c.698T>A (p.Phe233Tyr) | |
22 | g.50626178del | CA645612058 | ARSA | c.956del (p.Phe319SerfsTer10) c.698del (p.Phe233SerfsTer10) | COSMIC |
22 | g.50626178A>C | CA412174391 | ARSA | c.955T>G (p.Phe319Val) c.697T>G (p.Phe233Val) | |
22 | g.50626178A>G | CA412174394 | ARSA | c.955T>C (p.Phe319Leu) c.697T>C (p.Phe233Leu) | |
22 | g.50626178A>T | CA412174396 | ARSA | c.955T>A (p.Phe319Ile) c.697T>A (p.Phe233Ile) | |
22 | g.50626178_50626179insTCAAGGCA | CA2580099935 | ARSA | c.955_956insGCCTTGAT (p.Phe319CysfsTer13) c.697_698insGCCTTGAT (p.Phe233CysfsTer13) | ClinVar |
22 | g.50626179G>A | CA515248944 | ARSA | c.954C>T (p.Ala318=) c.696C>T (p.Ala232=) | gnomAD v4 |
22 | g.50626179G>C | CA515248946 | ARSA | c.954C>G (p.Ala318=) c.696C>G (p.Ala232=) | |
22 | g.50626179G>T | CA515248945 | ARSA | c.954C>A (p.Ala318=) c.696C>A (p.Ala232=) | gnomAD v4 |
22 | g.50626180G>A | CA325531333 | ARSA | c.953C>T (p.Ala318Val) c.695C>T (p.Ala232Val) | ClinVar dbSNP gnomAD v4 |
22 | g.50626180G>C | CA412174400 | ARSA | c.953C>G (p.Ala318Gly) c.695C>G (p.Ala232Gly) | |
22 | g.50626180G= | CA2410958898 | ARSA | c.953C= (p.Ala318=) c.695C= (p.Ala232=) | |
22 | g.50626180G>T | CA412174404 | ARSA | c.953C>A (p.Ala318Asp) c.695C>A (p.Ala232Asp) | |
22 | g.50626181C>A | CA412174407 | ARSA | c.952G>T (p.Ala318Ser) c.694G>T (p.Ala232Ser) | |
22 | g.50626181C>G | CA412174410 | ARSA | c.952G>C (p.Ala318Pro) c.694G>C (p.Ala232Pro) | |
22 | g.50626181C>T | CA412174414 | ARSA | c.952G>A (p.Ala318Thr) c.694G>A (p.Ala232Thr) | |
22 | g.50626182C>A | CA412174419 | ARSA | c.951G>T (p.Leu317Phe) c.693G>T (p.Leu231Phe) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50626182C= | CA2410958899 | ARSA | c.951G= (p.Leu317=) c.693G= (p.Leu231=) | |
22 | g.50626182C>G | CA412174423 | ARSA | c.951G>C (p.Leu317Phe) c.693G>C (p.Leu231Phe) | |
22 | g.50626182C>T | CA515248948 | ARSA | c.951G>A (p.Leu317=) c.693G>A (p.Leu231=) | ClinVar |
22 | g.50626183A>C | CA412174425 | ARSA | c.950T>G (p.Leu317Trp) c.692T>G (p.Leu231Trp) | |
22 | g.50626183A>G | CA412174427 | ARSA | c.950T>C (p.Leu317Ser) c.692T>C (p.Leu231Ser) | |
22 | g.50626183A>T | CA412174424 | ARSA | c.950T>A (p.Leu317Ter) c.692T>A (p.Leu231Ter) | |
22 | g.50626184A= | CA2410958900 | ARSA | c.949T= (p.Leu317=) c.691T= (p.Leu231=) | |
22 | g.50626184A>C | CA412174432 | ARSA | c.949T>G (p.Leu317Val) c.691T>G (p.Leu231Val) | |
22 | g.50626184A>G | CA515248949 | ARSA | c.949T>C (p.Leu317=) c.691T>C (p.Leu231=) | ClinVar gnomAD v4 |
22 | g.50626184A>T | CA325531334 | ARSA | c.949T>A (p.Leu317Met) c.691T>A (p.Leu231Met) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50626185G>A | CA515248950 | ARSA | c.948C>T (p.Ala316=) c.690C>T (p.Ala230=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50626185G>C | CA515248951 | ARSA | c.948C>G (p.Ala316=) c.690C>G (p.Ala230=) | |
22 | g.50626185G= | CA2410958901 | ARSA | c.948C= (p.Ala316=) c.690C= (p.Ala230=) | |
22 | g.50626185G>T | CA515248952 | ARSA | c.948C>A (p.Ala316=) c.690C>A (p.Ala230=) | |
22 | g.50626186G>A | CA412174445 | ARSA | c.947C>T (p.Ala316Val) c.689C>T (p.Ala230Val) | |
22 | g.50626186G>C | CA412174437 | ARSA | c.947C>G (p.Ala316Gly) c.689C>G (p.Ala230Gly) | |
22 | g.50626186G= | CA2410958902 | ARSA | c.947C= (p.Ala316=) c.689C= (p.Ala230=) | |
22 | g.50626186G>T | CA412174440 | ARSA | c.947C>A (p.Ala316Asp) c.689C>A (p.Ala230Asp) | ClinVar dbSNP |
22 | g.50626187C>A | CA412174450 | ARSA | c.946G>T (p.Ala316Ser) c.688G>T (p.Ala230Ser) |