| 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.50626171G>A | CA412174343 | ARSA | c.962C>T (p.Pro321Leu) c.704C>T (p.Pro235Leu) | |
| 22 | g.50626171G>C | CA412174339 | ARSA | c.962C>G (p.Pro321Arg) c.704C>G (p.Pro235Arg) | |
| 22 | g.50626171G>T | CA412174344 | ARSA | c.962C>A (p.Pro321Gln) c.704C>A (p.Pro235Gln) | |
| 22 | g.50626176_50626183del | CA10324867 | ARSA | c.955_962del (p.Phe319ArgfsTer?) c.697_704del (p.Phe233ArgfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50626172G>A | CA412174347 | ARSA | c.961C>T (p.Pro321Ser) c.703C>T (p.Pro235Ser) | COSMIC |
| 22 | g.50626172G>C | CA412174350 | ARSA | c.961C>G (p.Pro321Ala) c.703C>G (p.Pro235Ala) | |
| 22 | g.50626172G>T | CA412174351 | ARSA | c.961C>A (p.Pro321Thr) c.703C>A (p.Pro235Thr) | |
| 22 | g.50626173C>A | CA412174352 | ARSA | c.960G>T (p.Trp320Cys) c.702G>T (p.Trp234Cys) | |
| 22 | g.50626173C= | CA2410958893 | ARSA | c.960G= (p.Trp320=) c.702G= (p.Trp234=) | |
| 22 | g.50626173C>G | CA412174354 | ARSA | c.960G>C (p.Trp320Cys) c.702G>C (p.Trp234Cys) | |
| 22 | g.50626173C>T | CA412174356 | ARSA | c.960G>A (p.Trp320Ter) c.702G>A (p.Trp234Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50626174C>A | CA412174359 | ARSA | c.959G>T (p.Trp320Leu) c.701G>T (p.Trp234Leu) | |
| 22 | g.50626174C= | CA2410958894 | ARSA | c.959G= (p.Trp320=) c.701G= (p.Trp234=) | |
| 22 | g.50626174C>G | CA412174361 | ARSA | c.959G>C (p.Trp320Ser) c.701G>C (p.Trp234Ser) | dbSNP |
| 22 | g.50626174C>T | CA412174362 | ARSA | c.959G>A (p.Trp320Ter) c.701G>A (p.Trp234Ter) | |
| 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) | 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) |