UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.50626166G>A | CA325531330 | ARSA | c.967C>T (p.His323Tyr) c.709C>T (p.His237Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50626166G>C | CA412174303 | ARSA | c.967C>G (p.His323Asp) c.709C>G (p.His237Asp) | |
| 22 | g.50626166G= | CA2410958889 | ARSA | c.967C= (p.His323=) c.709C= (p.His237=) | |
| 22 | g.50626166G>T | CA412174310 | ARSA | c.967C>A (p.His323Asn) c.709C>A (p.His237Asn) | |
| 22 | g.50626167A>C | CA515248938 | ARSA | c.966T>G (p.Gly322=) c.708T>G (p.Gly236=) | |
| 22 | g.50626167A>G | CA515248939 | ARSA | c.966T>C (p.Gly322=) c.708T>C (p.Gly236=) | |
| 22 | g.50626167A>T | CA515248940 | ARSA | c.966T>A (p.Gly322=) c.708T>A (p.Gly236=) | |
| 22 | g.50626168C>A | CA412174314 | ARSA | c.965G>T (p.Gly322Val) c.707G>T (p.Gly236Val) | |
| 22 | g.50626168C= | CA2410958890 | ARSA | c.965G= (p.Gly322=) c.707G= (p.Gly236=) | |
| 22 | g.50626168C>G | CA412174317 | ARSA | c.965G>C (p.Gly322Ala) c.707G>C (p.Gly236Ala) | |
| 22 | g.50626168C>T | CA10324866 | ARSA | c.965G>A (p.Gly322Asp) c.707G>A (p.Gly236Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50626169C>A | CA412174321 | ARSA | c.964G>T (p.Gly322Cys) c.706G>T (p.Gly236Cys) | |
| 22 | g.50626169C>G | CA412174327 | ARSA | c.964G>C (p.Gly322Arg) c.706G>C (p.Gly236Arg) | |
| 22 | g.50626169C>T | CA412174329 | ARSA | c.964G>A (p.Gly322Ser) c.706G>A (p.Gly236Ser) | gnomAD v4 |
| 22 | g.50626170T>A | CA515248941 | ARSA | c.963A>T (p.Pro321=) c.705A>T (p.Pro235=) | |
| 22 | g.50626170T>C | CA325531332 | ARSA | c.963A>G (p.Pro321=) c.705A>G (p.Pro235=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50626170T>G | CA515248942 | ARSA | c.963A>C (p.Pro321=) c.705A>C (p.Pro235=) | |
| 22 | g.50626170T= | CA2410958892 | ARSA | c.963A= (p.Pro321=) c.705A= (p.Pro235=) | |
| 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) | 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) | |
| 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) | |
| 22 | g.50626192T>G | CA412174494 | ARSA | c.941A>C (p.Glu314Ala) c.683A>C (p.Glu228Ala) | dbSNP |
| 22 | g.50626192T= | CA2410958905 | ARSA | c.941A= (p.Glu314=) c.683A= (p.Glu228=) | |
| 22 | g.50626193C>A | CA412174495 | ARSA | c.940G>T (p.Glu314Ter) c.682G>T (p.Glu228Ter) | |
| 22 | g.50626193C= | CA2410958906 | ARSA | c.940G= (p.Glu314=) c.682G= (p.Glu228=) | |
| 22 | g.50626193C>G | CA412174497 | ARSA | c.940G>C (p.Glu314Gln) c.682G>C (p.Glu228Gln) | |
| 22 | g.50626193C>T | CA325531336 | ARSA | c.940G>A (p.Glu314Lys) c.682G>A (p.Glu228Lys) | dbSNP |
| 22 | g.50626194T>A | CA515248957 | ARSA | c.939A>T (p.Arg313=) c.681A>T (p.Arg227=) | |
| 22 | g.50626194T>C | CA515248958 | ARSA | c.939A>G (p.Arg313=) c.681A>G (p.Arg227=) | |
| 22 | g.50626194T>G | CA515248959 | ARSA | c.939A>C (p.Arg313=) c.681A>C (p.Arg227=) | |
| 22 | g.50626195C>A | CA412174508 | ARSA | c.938G>T (p.Arg313Leu) c.680G>T (p.Arg227Leu) | ClinVar gnomAD v4 |
| 22 | g.50626195C= | CA2410958907 | ARSA | c.938G= (p.Arg313=) c.680G= (p.Arg227=) | |
| 22 | g.50626195C>G | CA412174511 | ARSA | c.938G>C (p.Arg313Pro) c.680G>C (p.Arg227Pro) | |
| 22 | g.50626195C>T | CA219086 | ARSA | c.938G>A (p.Arg313Gln) c.680G>A (p.Arg227Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50626196G>A | CA325531338 | ARSA | c.937C>T (p.Arg313Ter) c.679C>T (p.Arg227Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50626196G>C | CA10324870 | ARSA | c.937C>G (p.Arg313Gly) c.679C>G (p.Arg227Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50626196G= | CA2410958908 | ARSA | c.937C= (p.Arg313=) c.679C= (p.Arg227=) | |
| 22 | g.50626196G>T | CA10324869 | ARSA | c.937C>A (p.Arg313=) c.679C>A (p.Arg227=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50626197dup | CA2580615339 | ARSA | c.937dup (p.Arg313ProfsTer?) c.679dup (p.Arg227ProfsTer?) | ClinVar |
| 22 | g.50626197G>A | CA515248960 | ARSA | c.936C>T (p.Val312=) c.678C>T (p.Val226=) | gnomAD v4 |
| 22 | g.50626197G>C | CA515248961 | ARSA | c.936C>G (p.Val312=) c.678C>G (p.Val226=) | gnomAD v4 |
| 22 | g.50626197G>T | CA515248962 | ARSA | c.936C>A (p.Val312=) c.678C>A (p.Val226=) | ClinVar gnomAD v4 |
| 22 | g.50626198A>C | CA412174528 | ARSA | c.935T>G (p.Val312Gly) c.677T>G (p.Val226Gly) | |
| 22 | g.50626198A>G | CA412174530 | ARSA | c.935T>C (p.Val312Ala) c.677T>C (p.Val226Ala) | |
| 22 | g.50626198A>T | CA412174524 | ARSA | c.935T>A (p.Val312Asp) c.677T>A (p.Val226Asp) | |
| 22 | g.50626199C>A | CA412174533 | ARSA | c.934G>T (p.Val312Phe) c.676G>T (p.Val226Phe) | |
| 22 | g.50626199C>G | CA412174536 | ARSA | c.934G>C (p.Val312Leu) c.676G>C (p.Val226Leu) | |
| 22 | g.50626199C>T | CA412174539 | ARSA | c.934G>A (p.Val312Ile) c.676G>A (p.Val226Ile) | gnomAD v4 |
| 22 | g.50626200A>C | CA515248963 | ARSA | c.933T>G (p.Gly311=) c.675T>G (p.Gly225=) | |
| 22 | g.50626200A>G | CA515248964 | ARSA | c.933T>C (p.Gly311=) c.675T>C (p.Gly225=) | |
| 22 | g.50626200A>T | CA515248965 | ARSA | c.933T>A (p.Gly311=) c.675T>A (p.Gly225=) | |
| 22 | g.50626201C>A | CA412174542 | ARSA | c.932G>T (p.Gly311Val) c.674G>T (p.Gly225Val) | |
| 22 | g.50626201C= | CA2410958909 | ARSA | c.932G= (p.Gly311=) c.674G= (p.Gly225=) | |
| 22 | g.50626201C>G | CA412174545 | ARSA | c.932G>C (p.Gly311Ala) c.674G>C (p.Gly225Ala) | |
| 22 | g.50626201C>T | CA10604712 | ARSA | c.932G>A (p.Gly311Asp) c.674G>A (p.Gly225Asp) | ClinVar dbSNP gnomAD v4 |
| 22 | g.50626202C>A | CA412174553 | ARSA | c.931G>T (p.Gly311Cys) c.673G>T (p.Gly225Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50626202C= | CA2410958910 | ARSA | c.931G= (p.Gly311=) c.673G= (p.Gly225=) | |
| 22 | g.50626202C>G | CA412174550 | ARSA | c.931G>C (p.Gly311Arg) c.673G>C (p.Gly225Arg) | ClinVar dbSNP |
| 22 | g.50626202C>T | CA115967 | ARSA | c.931G>A (p.Gly311Ser) c.673G>A (p.Gly225Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50626203G>A | CA10324871 | ARSA | c.930C>T (p.Gly310=) c.672C>T (p.Gly224=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 22 | g.50626203G>C | CA515248966 | ARSA | c.930C>G (p.Gly310=) c.672C>G (p.Gly224=) | |
| 22 | g.50626203G= | CA2410958911 | ARSA | c.930C= (p.Gly310=) c.672C= (p.Gly224=) | |
| 22 | g.50626203G>T | CA515248967 | ARSA | c.930C>A (p.Gly310=) c.672C>A (p.Gly224=) | gnomAD v4 COSMIC |
| 22 | g.50626203_50626204delinsGC | CA2410958912 | ARSA | c.929_930delinsGC (p.Gly310=) c.671_672delinsGC (p.Gly224=) | |
| 22 | g.50626204C>A | CA219084 | ARSA | c.929G>T (p.Gly310Val) c.671G>T (p.Gly224Val) | ClinVar dbSNP |
| 22 | g.50626204C= | CA2410958913 | ARSA | c.929G= (p.Gly310=) c.671G= (p.Gly224=) | |
| 22 | g.50626204C>G | CA412174557 | ARSA | c.929G>C (p.Gly310Ala) c.671G>C (p.Gly224Ala) | |
| 22 | g.50626204C>T | CA219082 | ARSA | c.929G>A (p.Gly310Asp) c.671G>A (p.Gly224Asp) | ClinVar dbSNP gnomAD v4 |
| 22 | g.50626206del | CA16042037 | ARSA | c.929del (p.Gly310AlafsTer19) c.671del (p.Gly224AlafsTer19) | ClinVar dbSNP |
| 22 | g.50626205C>A | CA412174562 | ARSA | c.928G>T (p.Gly310Cys) c.670G>T (p.Gly224Cys) | ClinVar |
| 22 | g.50626205C>G | CA412174566 | ARSA | c.928G>C (p.Gly310Arg) c.670G>C (p.Gly224Arg) | |
| 22 | g.50626205C>T | CA412174565 | ARSA | c.928G>A (p.Gly310Ser) c.670G>A (p.Gly224Ser) | ClinVar |
| 22 | g.50626206C>A | CA412174569 | ARSA | c.927G>T (p.Glu309Asp) c.669G>T (p.Glu223Asp) | |
| 22 | g.50626206C= | CA2410958914 | ARSA | c.927G= (p.Glu309=) c.669G= (p.Glu223=) | |
| 22 | g.50626206C>G | CA412174572 | ARSA | c.927G>C (p.Glu309Asp) c.669G>C (p.Glu223Asp) | |
| 22 | g.50626206C>T | CA10324872 | ARSA | c.927G>A (p.Glu309=) c.669G>A (p.Glu223=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50626207T>A | CA412174579 | ARSA | c.926A>T (p.Glu309Val) c.668A>T (p.Glu223Val) | ClinVar dbSNP |
| 22 | g.50626207T>C | CA412174585 | ARSA | c.926A>G (p.Glu309Gly) c.668A>G (p.Glu223Gly) | ClinVar |
| 22 | g.50626207T>G | CA412174589 | ARSA | c.926A>C (p.Glu309Ala) c.668A>C (p.Glu223Ala) | |
| 22 | g.50626207T= | CA2410958915 | ARSA | c.926A= (p.Glu309=) c.668A= (p.Glu223=) | |
| 22 | g.50626207dup | CA913088704 | ARSA | c.926dup (p.Gly311ArgfsTer?) c.668dup (p.Gly225ArgfsTer?) | |
| 22 | g.50626208C>A | CA10324873 | ARSA | c.925G>T (p.Glu309Ter) c.667G>T (p.Glu223Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50626208C= | CA2410958916 | ARSA | c.925G= (p.Glu309=) c.667G= (p.Glu223=) | |
| 22 | g.50626208C>G | CA10324874 | ARSA | c.925G>C (p.Glu309Gln) c.667G>C (p.Glu223Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50626208C>T | CA219080 | ARSA | c.925G>A (p.Glu309Lys) c.667G>A (p.Glu223Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50626208dup | CA658824685 | ARSA | c.925dup (p.Glu309GlyfsTer?) c.667dup (p.Glu223GlyfsTer?) | ClinVar dbSNP |
| 22 | g.50626208_50626211dup | CA2695231027 | ARSA | c.922_925dup (p.Glu309ValfsTer?) c.664_667dup (p.Glu223ValfsTer?) | |
| 22 | g.50626209G>A | CA10324875 | ARSA | c.924C>T (p.Tyr308=) c.666C>T (p.Tyr222=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 22 | g.50626209G>C | CA412174606 | ARSA | c.924C>G (p.Tyr308Ter) c.666C>G (p.Tyr222Ter) | |
| 22 | g.50626209G= | CA2410958917 | ARSA | c.924C= (p.Tyr308=) c.666C= (p.Tyr222=) | |
| 22 | g.50626209G>T | CA412174610 | ARSA | c.924C>A (p.Tyr308Ter) c.666C>A (p.Tyr222Ter) | |
| 22 | g.50626210T>A | CA412174621 | ARSA | c.923A>T (p.Tyr308Phe) c.665A>T (p.Tyr222Phe) | |
| 22 | g.50626210T>C | CA412174619 | ARSA | c.923A>G (p.Tyr308Cys) c.665A>G (p.Tyr222Cys) | |
| 22 | g.50626210T>G | CA412174615 | ARSA | c.923A>C (p.Tyr308Ser) c.665A>C (p.Tyr222Ser) | |
| 22 | g.50626211A= | CA2410958918 | ARSA | c.922T= (p.Tyr308=) c.664T= (p.Tyr222=) | |
| 22 | g.50626211A>C | CA412174627 | ARSA | c.922T>G (p.Tyr308Asp) c.664T>G (p.Tyr222Asp) | |
| 22 | g.50626211A>G | CA219078 | ARSA | c.922T>C (p.Tyr308His) c.664T>C (p.Tyr222His) | ClinVar dbSNP |
| 22 | g.50626211A>T | CA412174625 | ARSA | c.922T>A (p.Tyr308Asn) c.664T>A (p.Tyr222Asn) | gnomAD v4 |
| 22 | g.50626212G>A | CA515248968 | ARSA | c.921C>T (p.Thr307=) c.663C>T (p.Thr221=) | |
| 22 | g.50626212G>C | CA515248969 | ARSA | c.921C>G (p.Thr307=) c.663C>G (p.Thr221=) | |
| 22 | g.50626212G>T | CA515248970 | ARSA | c.921C>A (p.Thr307=) c.663C>A (p.Thr221=) | |
| 22 | g.50626213G>A | CA412174630 | ARSA | c.920C>T (p.Thr307Ile) c.662C>T (p.Thr221Ile) | |
| 22 | g.50626213G>C | CA412174632 | ARSA | c.920C>G (p.Thr307Ser) c.662C>G (p.Thr221Ser) | |
| 22 | g.50626213G= | CA2410958919 | ARSA | c.920C= (p.Thr307=) c.662C= (p.Thr221=) | |
| 22 | g.50626213G>T | CA10324876 | ARSA | c.920C>A (p.Thr307Asn) c.662C>A (p.Thr221Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50626214T>A | CA412174637 | ARSA | c.919A>T (p.Thr307Ser) c.661A>T (p.Thr221Ser) | |
| 22 | g.50626214T>C | CA412174638 | ARSA | c.919A>G (p.Thr307Ala) c.661A>G (p.Thr221Ala) | gnomAD v4 |
| 22 | g.50626214T>G | CA412174640 | ARSA | c.919A>C (p.Thr307Pro) c.661A>C (p.Thr221Pro) | |
| 22 | g.50626215C>A | CA515248971 | ARSA | c.918G>T (p.Thr306=) c.660G>T (p.Thr220=) | |
| 22 | g.50626215C= | CA2410958920 | ARSA | c.918G= (p.Thr306=) c.660G= (p.Thr220=) | |
| 22 | g.50626215C>G | CA10324878 | ARSA | c.918G>C (p.Thr306=) c.660G>C (p.Thr220=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50626215C>T | CA10324877 | ARSA | c.918G>A (p.Thr306=) c.660G>A (p.Thr220=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50626216G>A | CA219074 | ARSA | c.917C>T (p.Thr306Met) c.659C>T (p.Thr220Met) | ClinVar dbSNP gnomAD v4 |
| 22 | g.50626216G>C | CA412174662 | ARSA | c.917C>G (p.Thr306Arg) c.659C>G (p.Thr220Arg) | |
| 22 | g.50626216G= | CA2410958921 | ARSA | c.917C= (p.Thr306=) c.659C= (p.Thr220=) | |
| 22 | g.50626216G>T | CA412174665 | ARSA | c.917C>A (p.Thr306Lys) c.659C>A (p.Thr220Lys) | |
| 22 | g.50626217T>A | CA412174668 | ARSA | c.916A>T (p.Thr306Ser) c.658A>T (p.Thr220Ser) | |
| 22 | g.50626217T>C | CA412174667 | ARSA | c.916A>G (p.Thr306Ala) c.658A>G (p.Thr220Ala) | ClinVar gnomAD v4 |
| 22 | g.50626217T>G | CA412174666 | ARSA | c.916A>C (p.Thr306Pro) c.658A>C (p.Thr220Pro) | |
| 22 | g.50626218T>A | CA515248972 | ARSA | c.915A>T (p.Gly305=) c.657A>T (p.Gly219=) | |
| 22 | g.50626218T>C | CA515248973 | ARSA | c.915A>G (p.Gly305=) c.657A>G (p.Gly219=) | |
| 22 | g.50626218T>G | CA515248974 | ARSA | c.915A>C (p.Gly305=) c.657A>C (p.Gly219=) | |
| 22 | g.50626219C>A | CA412174671 | ARSA | c.914G>T (p.Gly305Val) c.656G>T (p.Gly219Val) | |
| 22 | g.50626219C= | CA2410958922 | ARSA | c.914G= (p.Gly305=) c.656G= (p.Gly219=) | |
| 22 | g.50626219C>G | CA412174672 | ARSA | c.914G>C (p.Gly305Ala) c.656G>C (p.Gly219Ala) | |
| 22 | g.50626219C>T | CA325531345 | ARSA | c.914G>A (p.Gly305Glu) c.656G>A (p.Gly219Glu) | dbSNP gnomAD v4 |
| 22 | g.50626220C>A | CA412174674 | ARSA | c.913G>T (p.Gly305Ter) c.655G>T (p.Gly219Ter) | |
| 22 | g.50626220C>G | CA412174676 | ARSA | c.913G>C (p.Gly305Arg) c.655G>C (p.Gly219Arg) | |
| 22 | g.50626220C>T | CA412174678 | ARSA | c.913G>A (p.Gly305Arg) c.655G>A (p.Gly219Arg) | ClinVar dbSNP COSMIC |
| 22 | g.50626221C>A | CA412174684 | ARSA | c.912G>T (p.Lys304Asn) c.654G>T (p.Lys218Asn) | |
| 22 | g.50626221C= | CA2410958923 | ARSA | c.912G= (p.Lys304=) c.654G= (p.Lys218=) | |
| 22 | g.50626221C>G | CA219072 | ARSA | c.912G>C (p.Lys304Asn) c.654G>C (p.Lys218Asn) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50626221C>T | CA515248975 | ARSA | c.912G>A (p.Lys304=) c.654G>A (p.Lys218=) | ClinVar |
| 22 | g.50626222T>A | CA412174687 | ARSA | c.911A>T (p.Lys304Met) c.653A>T (p.Lys218Met) | |
| 22 | g.50626222T>C | CA412174688 | ARSA | c.911A>G (p.Lys304Arg) c.653A>G (p.Lys218Arg) | |
| 22 | g.50626222T>G | CA412174692 | ARSA | c.911A>C (p.Lys304Thr) c.653A>C (p.Lys218Thr) | |
| 22 | g.50626223T>A | CA412174694 | ARSA | c.910A>T (p.Lys304Ter) c.652A>T (p.Lys218Ter) | |
| 22 | g.50626223T>C | CA412174700 | ARSA | c.910A>G (p.Lys304Glu) c.652A>G (p.Lys218Glu) | |
| 22 | g.50626223T>G | CA412174704 | ARSA | c.910A>C (p.Lys304Gln) c.652A>C (p.Lys218Gln) | |
| 22 | g.50626224T>A | CA515248976 | ARSA | c.909A>T (p.Gly303=) c.651A>T (p.Gly217=) | |
| 22 | g.50626224T>C | CA515248977 | ARSA | c.909A>G (p.Gly303=) c.651A>G (p.Gly217=) | ClinVar dbSNP gnomAD v4 |
| 22 | g.50626224T>G | CA515248978 | ARSA | c.909A>C (p.Gly303=) c.651A>C (p.Gly217=) | |
| 22 | g.50626225C>A | CA412174706 | ARSA | c.908G>T (p.Gly303Val) c.650G>T (p.Gly217Val) | ClinVar |
| 22 | g.50626225C= | CA2410958924 | ARSA | c.908G= (p.Gly303=) c.650G= (p.Gly217=) | |
| 22 | g.50626225C>G | CA412174707 | ARSA | c.908G>C (p.Gly303Ala) c.650G>C (p.Gly217Ala) | gnomAD v4 |
| 22 | g.50626225C>T | CA412174705 | ARSA | c.908G>A (p.Gly303Glu) c.650G>A (p.Gly217Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50626226C>A | CA412174711 | ARSA | c.907G>T (p.Gly303Ter) c.649G>T (p.Gly217Ter) | |
| 22 | g.50626226C= | CA2410958925 | ARSA | c.907G= (p.Gly303=) c.649G= (p.Gly217=) | |
| 22 | g.50626226C>G | CA412174713 | ARSA | c.907G>C (p.Gly303Arg) c.649G>C (p.Gly217Arg) | |
| 22 | g.50626226C>T | CA412174715 | ARSA | c.907G>A (p.Gly303Arg) c.649G>A (p.Gly217Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50626226_50626302del | CA2657592490 | ARSA | c.855-24_907del c.597-24_649del | ClinVar gnomAD v4 |
| 22 | g.50626227A>C | CA412174720 | ARSA | c.906T>G (p.Cys302Trp) c.648T>G (p.Cys216Trp) | |
| 22 | g.50626227A>G | CA515248979 | ARSA | c.906T>C (p.Cys302=) c.648T>C (p.Cys216=) | |
| 22 | g.50626227A>T | CA412174725 | ARSA | c.906T>A (p.Cys302Ter) c.648T>A (p.Cys216Ter) | |
| 22 | g.50626228C>A | CA116011 | ARSA | c.905G>T (p.Cys302Phe) c.647G>T (p.Cys216Phe) | ClinVar dbSNP |
| 22 | g.50626228C= | CA2410958926 | ARSA | c.905G= (p.Cys302=) c.647G= (p.Cys216=) | |
| 22 | g.50626228C>G | CA412174730 | ARSA | c.905G>C (p.Cys302Ser) c.647G>C (p.Cys216Ser) | |
| 22 | g.50626228C>T | CA412174737 | ARSA | c.905G>A (p.Cys302Tyr) c.647G>A (p.Cys216Tyr) | ClinVar dbSNP gnomAD v4 |
| 22 | g.50626229A= | CA2410958927 | ARSA | c.904T= (p.Cys302=) c.646T= (p.Cys216=) | |
| 22 | g.50626229A>C | CA412174741 | ARSA | c.904T>G (p.Cys302Gly) c.646T>G (p.Cys216Gly) | dbSNP |
| 22 | g.50626229A>G | CA412174744 | ARSA | c.904T>C (p.Cys302Arg) c.646T>C (p.Cys216Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50626229A>T | CA412174747 | ARSA | c.904T>A (p.Cys302Ser) c.646T>A (p.Cys216Ser) | |
| 22 | g.50626230C>A | CA515248980 | ARSA | c.903G>T (p.Arg301=) c.645G>T (p.Arg215=) | |
| 22 | g.50626230C= | CA2410958928 | ARSA | c.903G= (p.Arg301=) c.645G= (p.Arg215=) | |
| 22 | g.50626230C>G | CA515248981 | ARSA | c.903G>C (p.Arg301=) c.645G>C (p.Arg215=) | |
| 22 | g.50626230C>T | CA10324879 | ARSA | c.903G>A (p.Arg301=) c.645G>A (p.Arg215=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50626231_50626233del | CA2657592496 | ARSA | c.901_903del (p.Arg301del) c.643_645del (p.Arg215del) | gnomAD v4 |
| 22 | g.50626231C>A | CA325531349 | ARSA | c.902G>T (p.Arg301Leu) c.644G>T (p.Arg215Leu) | dbSNP gnomAD v4 |
| 22 | g.50626231C= | CA2410958929 | ARSA | c.902G= (p.Arg301=) c.644G= (p.Arg215=) | |
| 22 | g.50626231C>G | CA412174756 | ARSA | c.902G>C (p.Arg301Pro) c.644G>C (p.Arg215Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50626231C>T | CA10324880 | ARSA | c.902G>A (p.Arg301Gln) c.644G>A (p.Arg215Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 22 | g.50626232G>A | CA412174765 | ARSA | c.901C>T (p.Arg301Trp) c.643C>T (p.Arg215Trp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50626232G>C | CA245949 | ARSA | c.901C>G (p.Arg301Gly) c.643C>G (p.Arg215Gly) | ClinVar dbSNP gnomAD v4 |
| 22 | g.50626232G= | CA2410958930 | ARSA | c.901C= (p.Arg301=) c.643C= (p.Arg215=) | |
| 22 | g.50626232G>T | CA515248982 | ARSA | c.901C>A (p.Arg301=) c.643C>A (p.Arg215=) | |
| 22 | g.50626232_50626233delinsAT | CA2695231028 | ARSA | c.900_901delinsAT (p.Arg301Trp) c.642_643delinsAT (p.Arg215Trp) | |
| 22 | g.50626233C>A | CA412174771 | ARSA | c.900G>T (p.Leu300Phe) c.642G>T (p.Leu214Phe) | gnomAD v4 |
| 22 | g.50626233C= | CA2410958931 | ARSA | c.900G= (p.Leu300=) c.642G= (p.Leu214=) | |
| 22 | g.50626233C>G | CA10324882 | ARSA | c.900G>C (p.Leu300Phe) c.642G>C (p.Leu214Phe) | dbSNP ExAC gnomAD v2 |
| 22 | g.50626233C>T | CA10324881 | ARSA | c.900G>A (p.Leu300=) c.642G>A (p.Leu214=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50626234A= | CA2410958932 | ARSA | c.899T= (p.Leu300=) c.641T= (p.Leu214=) | |
| 22 | g.50626234A>C | CA412174773 | ARSA | c.899T>G (p.Leu300Trp) c.641T>G (p.Leu214Trp) | ClinVar |
| 22 | g.50626234A>G | CA219070 | ARSA | c.899T>C (p.Leu300Ser) c.641T>C (p.Leu214Ser) | ClinVar dbSNP gnomAD v4 |
| 22 | g.50626234A>T | CA412174792 | ARSA | c.899T>A (p.Leu300Ter) c.641T>A (p.Leu214Ter) | |
| 22 | g.50626235A>C | CA412174796 | ARSA | c.898T>G (p.Leu300Val) c.640T>G (p.Leu214Val) | |
| 22 | g.50626235A>G | CA515248983 | ARSA | c.898T>C (p.Leu300=) c.640T>C (p.Leu214=) | ClinVar gnomAD v4 |
| 22 | g.50626235A>T | CA412174799 | ARSA | c.898T>A (p.Leu300Met) c.640T>A (p.Leu214Met) | |
| 22 | g.50626236G>A | CA515248984 | ARSA | c.897C>T (p.Leu299=) c.639C>T (p.Leu213=) | COSMIC |
| 22 | g.50626236G>C | CA515248985 | ARSA | c.897C>G (p.Leu299=) c.639C>G (p.Leu213=) | |
| 22 | g.50626236G>T | CA515248986 | ARSA | c.897C>A (p.Leu299=) c.639C>A (p.Leu213=) | |
| 22 | g.50626237A= | CA2410958933 | ARSA | c.896T= (p.Leu299=) c.638T= (p.Leu213=) | |
| 22 | g.50626237A>C | CA412174801 | ARSA | c.896T>G (p.Leu299Arg) c.638T>G (p.Leu213Arg) | |
| 22 | g.50626237A>G | CA10324883 | ARSA | c.896T>C (p.Leu299Pro) c.638T>C (p.Leu213Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50626237A>T | CA412174808 | ARSA | c.896T>A (p.Leu299His) c.638T>A (p.Leu213His) | |
| 22 | g.50626238G>A | CA412174812 | ARSA | c.895C>T (p.Leu299Phe) c.637C>T (p.Leu213Phe) | dbSNP |
| 22 | g.50626238G>C | CA412174814 | ARSA | c.895C>G (p.Leu299Val) c.637C>G (p.Leu213Val) | |
| 22 | g.50626238G= | CA2410958934 | ARSA | c.895C= (p.Leu299=) c.637C= (p.Leu213=) | |
| 22 | g.50626238G>T | CA412174810 | ARSA | c.895C>A (p.Leu299Ile) c.637C>A (p.Leu213Ile) | |
| 22 | g.50626240_50626244del | CA2580099941 | ARSA | c.891_895del (p.Gly298LeufsTer?) c.633_637del (p.Gly212LeufsTer?) | ClinVar |
| 22 | g.50626239A>C | CA515248987 | ARSA | c.894T>G (p.Gly298=) c.636T>G (p.Gly212=) | |
| 22 | g.50626239A>G | CA515248988 | ARSA | c.894T>C (p.Gly298=) c.636T>C (p.Gly212=) | gnomAD v4 |
| 22 | g.50626239A>T | CA515248989 | ARSA | c.894T>A (p.Gly298=) c.636T>A (p.Gly212=) | |
| 22 | g.50626240C>A | CA325531356 | ARSA | c.893G>T (p.Gly298Val) c.635G>T (p.Gly212Val) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50626240C= | CA2410958935 | ARSA | c.893G= (p.Gly298=) c.635G= (p.Gly212=) | |
| 22 | g.50626240C>G | CA412174818 | ARSA | c.893G>C (p.Gly298Ala) c.635G>C (p.Gly212Ala) | |
| 22 | g.50626240C>T | CA412174819 | ARSA | c.893G>A (p.Gly298Asp) c.635G>A (p.Gly212Asp) | |
| 22 | g.50626241C>A | CA412174821 | ARSA | c.892G>T (p.Gly298Cys) c.634G>T (p.Gly212Cys) | ClinVar dbSNP |
| 22 | g.50626241C= | CA2410958937 | ARSA | c.892G= (p.Gly298=) c.634G= (p.Gly212=) | |
| 22 | g.50626241C>G | CA412174824 | ARSA | c.892G>C (p.Gly298Arg) c.634G>C (p.Gly212Arg) | dbSNP gnomAD v4 |
| 22 | g.50626241C>T | CA10324884 | ARSA | c.892G>A (p.Gly298Ser) c.634G>A (p.Gly212Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50626241_50626242delinsCG | CA2410958936 | ARSA | c.891_892delinsCG (p.Ser297=) c.633_634delinsCG (p.Ser211=) | |
| 22 | g.50626242G>A | CA10324885 | ARSA | c.891C>T (p.Ser297=) c.633C>T (p.Ser211=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50626242G>C | CA515248991 | ARSA | c.891C>G (p.Ser297=) c.633C>G (p.Ser211=) | |
| 22 | g.50626242G= | CA2410958938 | ARSA | c.891C= (p.Ser297=) c.633C= (p.Ser211=) | |
| 22 | g.50626242G>T | CA515248990 | ARSA | c.891C>A (p.Ser297=) c.633C>A (p.Ser211=) | ClinVar |
| 22 | g.50626243del | CA16042038 | ARSA | c.891del (p.Gly298ValfsTer?) c.633del (p.Gly212ValfsTer?) | ClinVar dbSNP gnomAD v4 |
| 22 | g.50626243G>A | CA412174845 | ARSA | c.890C>T (p.Ser297Phe) c.632C>T (p.Ser211Phe) | |
| 22 | g.50626243G>C | CA412174848 | ARSA | c.890C>G (p.Ser297Cys) c.632C>G (p.Ser211Cys) | |
| 22 | g.50626243G= | CA2410958939 | ARSA | c.890C= (p.Ser297=) c.632C= (p.Ser211=) | |
| 22 | g.50626243G>T | CA115987 | ARSA | c.890C>A (p.Ser297Tyr) c.632C>A (p.Ser211Tyr) | ClinVar dbSNP |
| 22 | g.50626244A>C | CA412174852 | ARSA | c.889T>G (p.Ser297Ala) c.631T>G (p.Ser211Ala) | |
| 22 | g.50626244A>G | CA412174854 | ARSA | c.889T>C (p.Ser297Pro) c.631T>C (p.Ser211Pro) | |
| 22 | g.50626244A>T | CA412174860 | ARSA | c.889T>A (p.Ser297Thr) c.631T>A (p.Ser211Thr) | |
| 22 | g.50626245G>A | CA10324886 | ARSA | c.888C>T (p.Cys296=) c.630C>T (p.Cys210=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50626245G>C | CA412174864 | ARSA | c.888C>G (p.Cys296Trp) c.630C>G (p.Cys210Trp) | |
| 22 | g.50626245G= | CA2410958940 | ARSA | c.888C= (p.Cys296=) c.630C= (p.Cys210=) | |
| 22 | g.50626245G>T | CA412174868 | ARSA | c.888C>A (p.Cys296Ter) c.630C>A (p.Cys210Ter) | gnomAD v4 |
| 22 | g.50626246C>A | CA412174879 | ARSA | c.887G>T (p.Cys296Phe) c.629G>T (p.Cys210Phe) | |
| 22 | g.50626246C= | CA2410958941 | ARSA | c.887G= (p.Cys296=) c.629G= (p.Cys210=) | |
| 22 | g.50626246C>G | CA412174881 | ARSA | c.887G>C (p.Cys296Ser) c.629G>C (p.Cys210Ser) | |
| 22 | g.50626246C>T | CA219068 | ARSA | c.887G>A (p.Cys296Tyr) c.629G>A (p.Cys210Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50626247A>C | CA412174896 | ARSA | c.886T>G (p.Cys296Gly) c.628T>G (p.Cys210Gly) | |
| 22 | g.50626247A>G | CA412174908 | ARSA | c.886T>C (p.Cys296Arg) c.628T>C (p.Cys210Arg) | |
| 22 | g.50626247A>T | CA412174911 | ARSA | c.886T>A (p.Cys296Ser) c.628T>A (p.Cys210Ser) | |
| 22 | g.50626248G>A | CA515248992 | ARSA | c.885C>T (p.Gly295=) c.627C>T (p.Gly209=) | |
| 22 | g.50626248G>C | CA515248993 | ARSA | c.885C>G (p.Gly295=) c.627C>G (p.Gly209=) | |
| 22 | g.50626248G>T | CA515248994 | ARSA | c.885C>A (p.Gly295=) c.627C>A (p.Gly209=) | |
| 22 | g.50626249C>A | CA412174915 | ARSA | c.884G>T (p.Gly295Val) c.626G>T (p.Gly209Val) | |
| 22 | g.50626249C= | CA2410958942 | ARSA | c.884G= (p.Gly295=) c.626G= (p.Gly209=) | |
| 22 | g.50626249C>G | CA412174919 | ARSA | c.884G>C (p.Gly295Ala) c.626G>C (p.Gly209Ala) | |
| 22 | g.50626249C>T | CA219066 | ARSA | c.884G>A (p.Gly295Asp) c.626G>A (p.Gly209Asp) | ClinVar dbSNP |
| 22 | g.50626249_50626259delinsCCGCCTCGGGA | CA2410958943 | ARSA | c.874_884delinsTCCCGAGGCGG (p.Ser292=) c.616_626delinsTCCCGAGGCGG (p.Ser206=) | |
| 22 | g.50626250C>A | CA412174927 | ARSA | c.883G>T (p.Gly295Cys) c.625G>T (p.Gly209Cys) | |
| 22 | g.50626250C= | CA2410958944 | ARSA | c.883G= (p.Gly295=) c.625G= (p.Gly209=) | |
| 22 | g.50626250C>G | CA412174930 | ARSA | c.883G>C (p.Gly295Arg) c.625G>C (p.Gly209Arg) | |
| 22 | g.50626250C>T | CA219064 | ARSA | c.883G>A (p.Gly295Ser) c.625G>A (p.Gly209Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50626251_50626260del | CA1139667194 | ARSA | c.874_883del (p.Ser292AlafsTer?) c.616_625del (p.Ser206AlafsTer?) | ClinVar dbSNP |
| 22 | g.50626251G>A | CA10324887 | ARSA | c.882C>T (p.Gly294=) c.624C>T (p.Gly208=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50626251G>C | CA515248995 | ARSA | c.882C>G (p.Gly294=) c.624C>G (p.Gly208=) | |
| 22 | g.50626251G= | CA2410958945 | ARSA | c.882C= (p.Gly294=) c.624C= (p.Gly208=) | |
| 22 | g.50626251G>T | CA515248996 | ARSA | c.882C>A (p.Gly294=) c.624C>A (p.Gly208=) | |
| 22 | g.50626252C>A | CA412174946 | ARSA | c.881G>T (p.Gly294Val) c.623G>T (p.Gly208Val) | |
| 22 | g.50626252C>G | CA412174939 | ARSA | c.881G>C (p.Gly294Ala) c.623G>C (p.Gly208Ala) | |
| 22 | g.50626252C>T | CA412174941 | ARSA | c.881G>A (p.Gly294Asp) c.623G>A (p.Gly208Asp) | |
| 22 | g.50626253C>A | CA412174952 | ARSA | c.880G>T (p.Gly294Cys) c.622G>T (p.Gly208Cys) | |
| 22 | g.50626253C>G | CA412174955 | ARSA | c.880G>C (p.Gly294Arg) c.622G>C (p.Gly208Arg) | |
| 22 | g.50626253C>T | CA412174960 | ARSA | c.880G>A (p.Gly294Ser) c.622G>A (p.Gly208Ser) | |
| 22 | g.50626254T>A | CA515248997 | ARSA | c.879A>T (p.Arg293=) c.621A>T (p.Arg207=) | |
| 22 | g.50626254T>C | CA515248998 | ARSA | c.879A>G (p.Arg293=) c.621A>G (p.Arg207=) | |
| 22 | g.50626254T>G | CA515248999 | ARSA | c.879A>C (p.Arg293=) c.621A>C (p.Arg207=) | |
| 22 | g.50626255C>A | CA412174961 | ARSA | c.878G>T (p.Arg293Leu) c.620G>T (p.Arg207Leu) | |
| 22 | g.50626255C= | CA2410958946 | ARSA | c.878G= (p.Arg293=) c.620G= (p.Arg207=) | |
| 22 | g.50626255C>G | CA412174962 | ARSA | c.878G>C (p.Arg293Pro) c.620G>C (p.Arg207Pro) | gnomAD v4 |
| 22 | g.50626255C>T | CA10324888 | ARSA | c.878G>A (p.Arg293Gln) c.620G>A (p.Arg207Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50626256G>A | CA412174968 | ARSA | c.877C>T (p.Arg293Ter) c.619C>T (p.Arg207Ter) | ClinVar dbSNP |
| 22 | g.50626256G>C | CA412174965 | ARSA | c.877C>G (p.Arg293Gly) c.619C>G (p.Arg207Gly) | gnomAD v4 |
| 22 | g.50626256G= | CA2410958947 | ARSA | c.877C= (p.Arg293=) c.619C= (p.Arg207=) | |
| 22 | g.50626256G>T | CA515249000 | ARSA | c.877C>A (p.Arg293=) c.619C>A (p.Arg207=) | |
| 22 | g.50626257G>A | CA515249002 | ARSA | c.876C>T (p.Ser292=) c.618C>T (p.Ser206=) | dbSNP gnomAD v2 |
| 22 | g.50626257G>C | CA515249003 | ARSA | c.876C>G (p.Ser292=) c.618C>G (p.Ser206=) | |
| 22 | g.50626257G= | CA2410958948 | ARSA | c.876C= (p.Ser292=) c.618C= (p.Ser206=) | |
| 22 | g.50626257G>T | CA515249001 | ARSA | c.876C>A (p.Ser292=) c.618C>A (p.Ser206=) | |
| 22 | g.50626258G>A | CA10324889 | ARSA | c.875C>T (p.Ser292Phe) c.617C>T (p.Ser206Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50626258G>C | CA412174980 | ARSA | c.875C>G (p.Ser292Cys) c.617C>G (p.Ser206Cys) | |
| 22 | g.50626258G= | CA2410958949 | ARSA | c.875C= (p.Ser292=) c.617C= (p.Ser206=) | |
| 22 | g.50626258G>T | CA412174983 | ARSA | c.875C>A (p.Ser292Tyr) c.617C>A (p.Ser206Tyr) | |
| 22 | g.50626259A>C | CA412174989 | ARSA | c.874T>G (p.Ser292Ala) c.616T>G (p.Ser206Ala) | |
| 22 | g.50626259A>G | CA412174992 | ARSA | c.874T>C (p.Ser292Pro) c.616T>C (p.Ser206Pro) | |
| 22 | g.50626259A>T | CA412174995 | ARSA | c.874T>A (p.Ser292Thr) c.616T>A (p.Ser206Thr) | |
| 22 | g.50626260C>A | CA412175013 | ARSA | c.873G>T (p.Met291Ile) c.615G>T (p.Met205Ile) | |
| 22 | g.50626260C>G | CA412175000 | ARSA | c.873G>C (p.Met291Ile) c.615G>C (p.Met205Ile) | |
| 22 | g.50626260C>T | CA412175005 | ARSA | c.873G>A (p.Met291Ile) c.615G>A (p.Met205Ile) | |
| 22 | g.50626263_50626268del | CA2697552824 | ARSA | c.868_873del (p.Arg290_Met291del) c.610_615del (p.Arg204_Met205del) | ClinVar |
| 22 | g.50626261A= | CA2410958950 | ARSA | c.872T= (p.Met291=) c.614T= (p.Met205=) | |
| 22 | g.50626261A>C | CA412175014 | ARSA | c.872T>G (p.Met291Arg) c.614T>G (p.Met205Arg) | |
| 22 | g.50626261A>G | CA412175015 | ARSA | c.872T>C (p.Met291Thr) c.614T>C (p.Met205Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50626261A>T | CA412175018 | ARSA | c.872T>A (p.Met291Lys) c.614T>A (p.Met205Lys) | |
| 22 | g.50626262T>A | CA412175024 | ARSA | c.871A>T (p.Met291Leu) c.613A>T (p.Met205Leu) | |
| 22 | g.50626262T>C | CA412175029 | ARSA | c.871A>G (p.Met291Val) c.613A>G (p.Met205Val) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50626262T>G | CA412175032 | ARSA | c.871A>C (p.Met291Leu) c.613A>C (p.Met205Leu) | |
| 22 | g.50626262T= | CA2410958951 | ARSA | c.871A= (p.Met291=) c.613A= (p.Met205=) | |
| 22 | g.50626263A= | CA2410958952 | ARSA | c.870T= (p.Arg290=) c.612T= (p.Arg204=) | |
| 22 | g.50626263A>C | CA515249005 | ARSA | c.870T>G (p.Arg290=) c.612T>G (p.Arg204=) | |
| 22 | g.50626263A>G | CA515249006 | ARSA | c.870T>C (p.Arg290=) c.612T>C (p.Arg204=) | ClinVar dbSNP |
| 22 | g.50626263A>T | CA515249004 | ARSA | c.870T>A (p.Arg290=) c.612T>A (p.Arg204=) | |
| 22 | g.50626264C>A | CA412175036 | ARSA | c.869G>T (p.Arg290Leu) c.611G>T (p.Arg204Leu) | ClinVar gnomAD v4 |
| 22 | g.50626264C= | CA2410958953 | ARSA | c.869G= (p.Arg290=) c.611G= (p.Arg204=) | |
| 22 | g.50626264C>G | CA412175040 | ARSA | c.869G>C (p.Arg290Pro) c.611G>C (p.Arg204Pro) | ClinVar |
| 22 | g.50626264C>T | CA219062 | ARSA | c.869G>A (p.Arg290His) c.611G>A (p.Arg204His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50626265G>A | CA278036 | ARSA | c.868C>T (p.Arg290Cys) c.610C>T (p.Arg204Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50626265G>C | CA412175055 | ARSA | c.868C>G (p.Arg290Gly) c.610C>G (p.Arg204Gly) | ClinVar |
| 22 | g.50626265G= | CA2410958954 | ARSA | c.868C= (p.Arg290=) c.610C= (p.Arg204=) | |
| 22 | g.50626265G>T | CA412175058 | ARSA | c.868C>A (p.Arg290Ser) c.610C>A (p.Arg204Ser) | |
| 22 | g.50626266C>A | CA412175064 | ARSA | c.867G>T (p.Met289Ile) c.609G>T (p.Met203Ile) | |
| 22 | g.50626266C= | CA2410958955 | ARSA | c.867G= (p.Met289=) c.609G= (p.Met203=) | |
| 22 | g.50626266C>G | CA412175071 | ARSA | c.867G>C (p.Met289Ile) c.609G>C (p.Met203Ile) | |
| 22 | g.50626266C>T | CA10324890 | ARSA | c.867G>A (p.Met289Ile) c.609G>A (p.Met203Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |