Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
22 | g.50626176_50626183del | CA10324867 | ARSA | c.955_962del (p.Phe319ArgfsTer?) c.697_704del (p.Phe233ArgfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50626177_50626179del | CA1139667193 | ARSA | c.956_958del (p.Phe319del) c.698_700del (p.Phe233del) | ClinVar dbSNP |
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) | |
22 | g.50626187C= | CA2410958903 | ARSA | c.946G= (p.Ala316=) c.688G= (p.Ala230=) | |
22 | g.50626187C>G | CA412174454 | ARSA | c.946G>C (p.Ala316Pro) c.688G>C (p.Ala230Pro) | |
22 | g.50626187C>T | CA219090 | ARSA | c.946G>A (p.Ala316Thr) c.688G>A (p.Ala230Thr) | ClinVar dbSNP gnomAD v4 |
22 | g.50626188A>C | CA515248953 | ARSA | c.945T>G (p.Pro315=) c.687T>G (p.Pro229=) | |
22 | g.50626188A>G | CA515248954 | ARSA | c.945T>C (p.Pro315=) c.687T>C (p.Pro229=) | gnomAD v4 |
22 | g.50626188A>T | CA515248955 | ARSA | c.945T>A (p.Pro315=) c.687T>A (p.Pro229=) | |
22 | g.50626189G>A | CA412174457 | ARSA | c.944C>T (p.Pro315Leu) c.686C>T (p.Pro229Leu) | |
22 | g.50626189G>C | CA412174460 | ARSA | c.944C>G (p.Pro315Arg) c.686C>G (p.Pro229Arg) | |
22 | g.50626189G>T | CA412174463 | ARSA | c.944C>A (p.Pro315His) c.686C>A (p.Pro229His) | |
22 | g.50626190G>A | CA412174468 | ARSA | c.943C>T (p.Pro315Ser) c.685C>T (p.Pro229Ser) | gnomAD v4 |
22 | g.50626190G>C | CA412174469 | ARSA | c.943C>G (p.Pro315Ala) c.685C>G (p.Pro229Ala) | |
22 | g.50626190G>T | CA412174470 | ARSA | c.943C>A (p.Pro315Thr) c.685C>A (p.Pro229Thr) | |
22 | g.50626191C>A | CA219088 | ARSA | c.942G>T (p.Glu314Asp) c.684G>T (p.Glu228Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
22 | g.50626191C= | CA2410958904 | ARSA | c.942G= (p.Glu314=) c.684G= (p.Glu228=) | |
22 | g.50626191C>G | CA412174472 | ARSA | c.942G>C (p.Glu314Asp) c.684G>C (p.Glu228Asp) | |
22 | g.50626191C>T | CA515248956 | ARSA | c.942G>A (p.Glu314=) c.684G>A (p.Glu228=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
22 | g.50626192T>A | CA412174478 | ARSA | c.941A>T (p.Glu314Val) c.683A>T (p.Glu228Val) | |
22 | g.50626192T>C | CA412174490 | ARSA | c.941A>G (p.Glu314Gly) c.683A>G (p.Glu228Gly) |