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.50625075del | CA754067174 | ARSA | c.*71del (n.*71del) c.180+289del c.*334del (n.*334del) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50625075C>A | CA2657590466 | ARSA | c.*70G>T (n.*70G>T) c.180+288G>T c.*333G>T (n.*333G>T) | gnomAD v4 |
| 22 | g.50625075C>T | CA2657590470 | ARSA | c.*70G>A (n.*70G>A) c.180+288G>A c.*333G>A (n.*333G>A) | gnomAD v4 |
| 22 | g.50625077G>T | CA2657590472 | ARSA | c.*68C>A (n.*68C>A) c.180+286C>A c.*331C>A (n.*331C>A) | gnomAD v4 |
| 22 | g.50625079C>A | CA2657590473 | ARSA | c.*66G>T (n.*66G>T) c.180+284G>T c.*329G>T (n.*329G>T) | gnomAD v4 |
| 22 | g.50625079C= | CA2410958301 | ARSA | c.*66G= (n.*66G=) c.180+284G= c.*329G= (n.*329G=) | |
| 22 | g.50625079C>T | CA640051381 | ARSA | c.*66G>A (n.*66G>A) c.180+284G>A c.*329G>A (n.*329G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625081C>A | CA2657590478 | ARSA | c.*64G>T (n.*64G>T) c.180+282G>T c.*327G>T (n.*327G>T) | gnomAD v4 |
| 22 | g.50625081C= | CA2410958302 | ARSA | c.*64G= (n.*64G=) c.180+282G= c.*327G= (n.*327G=) | |
| 22 | g.50625081C>T | CA325531123 | ARSA | c.*64G>A (n.*64G>A) c.180+282G>A c.*327G>A (n.*327G>A) | dbSNP gnomAD v4 |
| 22 | g.50625082C>A | CA2657590481 | ARSA | c.*63G>T (n.*63G>T) c.180+281G>T c.*326G>T (n.*326G>T) | gnomAD v4 |
| 22 | g.50625083T>C | CA2657590483 | ARSA | c.*62A>G (n.*62A>G) c.180+280A>G c.*325A>G (n.*325A>G) | gnomAD v4 |
| 22 | g.50625083T>G | CA2657590484 | ARSA | c.*62A>C (n.*62A>C) c.180+280A>C c.*325A>C (n.*325A>C) | gnomAD v4 |
| 22 | g.50625084G>A | CA2544619309 | ARSA | c.*61C>T (n.*61C>T) c.180+279C>T c.*324C>T (n.*324C>T) | gnomAD v4 |
| 22 | g.50625084G= | CA2410958303 | ARSA | c.*61C= (n.*61C=) c.180+279C= c.*324C= (n.*324C=) | |
| 22 | g.50625084G>T | CA325531125 | ARSA | c.*61C>A (n.*61C>A) c.180+279C>A c.*324C>A (n.*324C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625085A= | CA2410958304 | ARSA | c.*60T= (n.*60T=) c.180+278T= c.*323T= (n.*323T=) | |
| 22 | g.50625085A>C | CA2410958305 | ARSA | c.*60T>G (n.*60T>G) c.180+278T>G c.*323T>G (n.*323T>G) | dbSNP |
| 22 | g.50625085A>G | CA2657590488 | ARSA | c.*60T>C (n.*60T>C) c.180+278T>C c.*323T>C (n.*323T>C) | gnomAD v4 |
| 22 | g.50625086G>A | CA2657590490 | ARSA | c.*59C>T (n.*59C>T) c.180+277C>T c.*322C>T (n.*322C>T) | gnomAD v4 |
| 22 | g.50625087C>A | CA2657590493 | ARSA | c.*58G>T (n.*58G>T) c.180+276G>T c.*321G>T (n.*321G>T) | gnomAD v4 |
| 22 | g.50625087C>T | CA2657590495 | ARSA | c.*58G>A (n.*58G>A) c.180+276G>A c.*321G>A (n.*321G>A) | gnomAD v4 |
| 22 | g.50625088del | CA2657590492 | ARSA | c.*58del (n.*58del) c.180+276del c.*321del (n.*321del) | gnomAD v4 |
| 22 | g.50625088C>T | CA2657590498 | ARSA | c.*57G>A (n.*57G>A) c.180+275G>A c.*320G>A (n.*320G>A) | gnomAD v4 |
| 22 | g.50625089T>C | CA754067182 | ARSA | c.*56A>G (n.*56A>G) c.180+274A>G c.*319A>G (n.*319A>G) | dbSNP gnomAD v4 |
| 22 | g.50625089T= | CA2410958306 | ARSA | c.*56A= (n.*56A=) c.180+274A= c.*319A= (n.*319A=) | |
| 22 | g.50625090C>A | CA2577767845 | ARSA | c.*55G>T (n.*55G>T) c.180+273G>T c.*318G>T (n.*318G>T) | |
| 22 | g.50625094del | CA2657590499 | ARSA | c.*55del (n.*55del) c.180+273del c.*318del (n.*318del) | gnomAD v4 |
| 22 | g.50625091C>A | CA2657590501 | ARSA | c.*54G>T (n.*54G>T) c.180+272G>T c.*317G>T (n.*317G>T) | gnomAD v4 |
| 22 | g.50625091C>T | CA2657590503 | ARSA | c.*54G>A (n.*54G>A) c.180+272G>A c.*317G>A (n.*317G>A) | gnomAD v4 |
| 22 | g.50625092C>A | CA2657590504 | ARSA | c.*53G>T (n.*53G>T) c.180+271G>T c.*316G>T (n.*316G>T) | gnomAD v4 |
| 22 | g.50625092C= | CA2410958307 | ARSA | c.*53G= (n.*53G=) c.180+271G= c.*316G= (n.*316G=) | |
| 22 | g.50625092C>T | CA2410958308 | ARSA | c.*53G>A (n.*53G>A) c.180+271G>A c.*316G>A (n.*316G>A) | dbSNP gnomAD v4 |
| 22 | g.50625093C>A | CA2577767847 | ARSA | c.*52G>T (n.*52G>T) c.180+270G>T c.*315G>T (n.*315G>T) | gnomAD v4 |
| 22 | g.50625093C>G | CA2577767846 | ARSA | c.*52G>C (n.*52G>C) c.180+270G>C c.*315G>C (n.*315G>C) | gnomAD v4 |
| 22 | g.50625094C>A | CA640358543 | ARSA | c.*51G>T (n.*51G>T) c.180+269G>T c.*314G>T (n.*314G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625094C= | CA2410958309 | ARSA | c.*51G= (n.*51G=) c.180+269G= c.*314G= (n.*314G=) | |
| 22 | g.50625094C>G | CA10324707 | ARSA | c.*51G>C (n.*51G>C) c.180+269G>C c.*314G>C (n.*314G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625094C>T | CA754067185 | ARSA | c.*51G>A (n.*51G>A) c.180+269G>A c.*314G>A (n.*314G>A) | dbSNP gnomAD v4 |
| 22 | g.50625095A>C | CA2657590511 | ARSA | c.*50T>G (n.*50T>G) c.180+268T>G c.*313T>G (n.*313T>G) | gnomAD v4 |
| 22 | g.50625096C>A | CA2410958311 | ARSA | c.*49G>T (n.*49G>T) c.180+267G>T c.*312G>T (n.*312G>T) | dbSNP gnomAD v4 |
| 22 | g.50625096C= | CA2410958310 | ARSA | c.*49G= (n.*49G=) c.180+267G= c.*312G= (n.*312G=) | |
| 22 | g.50625096C>T | CA2577767848 | ARSA | c.*49G>A (n.*49G>A) c.180+267G>A c.*312G>A (n.*312G>A) | gnomAD v4 |
| 22 | g.50625097A>G | CA2657590514 | ARSA | c.*48T>C (n.*48T>C) c.180+266T>C c.*311T>C (n.*311T>C) | gnomAD v4 |
| 22 | g.50625097A>T | CA2819316015 | ARSA | c.*48T>A (n.*48T>A) c.180+266T>A c.*311T>A (n.*311T>A) | |
| 22 | g.50625098G>C | CA2410958313 | ARSA | c.*47C>G (n.*47C>G) c.180+265C>G c.*310C>G (n.*310C>G) | dbSNP |
| 22 | g.50625098G= | CA2410958312 | ARSA | c.*47C= (n.*47C=) c.180+265C= c.*310C= (n.*310C=) | |
| 22 | g.50625098G>T | CA2657590516 | ARSA | c.*47C>A (n.*47C>A) c.180+265C>A c.*310C>A (n.*310C>A) | gnomAD v4 |
| 22 | g.50625099G>A | CA2657590519 | ARSA | c.*46C>T (n.*46C>T) c.180+264C>T c.*309C>T (n.*309C>T) | gnomAD v4 |
| 22 | g.50625099G>C | CA2657590517 | ARSA | c.*46C>G (n.*46C>G) c.180+264C>G c.*309C>G (n.*309C>G) | gnomAD v4 |
| 22 | g.50625099G>T | CA2657590518 | ARSA | c.*46C>A (n.*46C>A) c.180+264C>A c.*309C>A (n.*309C>A) | gnomAD v4 |
| 22 | g.50625100C>A | CA2657590522 | ARSA | c.*45G>T (n.*45G>T) c.180+263G>T c.*308G>T (n.*308G>T) | gnomAD v4 |
| 22 | g.50625101T>C | CA325531128 | ARSA | c.*44A>G (n.*44A>G) c.180+262A>G c.*307A>G (n.*307A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625101T>G | CA1026680067 | ARSA | c.*44A>C (n.*44A>C) c.180+262A>C c.*307A>C (n.*307A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50625101T= | CA2410958314 | ARSA | c.*44A= (n.*44A=) c.180+262A= c.*307A= (n.*307A=) | |
| 22 | g.50625102C>G | CA2657590528 | ARSA | c.*43G>C (n.*43G>C) c.180+261G>C c.*306G>C (n.*306G>C) | gnomAD v4 |
| 22 | g.50625102C>T | CA2657590529 | ARSA | c.*43G>A (n.*43G>A) c.180+261G>A c.*306G>A (n.*306G>A) | gnomAD v4 |
| 22 | g.50625103C>A | CA2657590532 | ARSA | c.*42G>T (n.*42G>T) c.180+260G>T c.*305G>T (n.*305G>T) | gnomAD v4 |
| 22 | g.50625103C>T | CA2657590533 | ARSA | c.*42G>A (n.*42G>A) c.180+260G>A c.*305G>A (n.*305G>A) | gnomAD v4 |
| 22 | g.50625104C>A | CA2577767849 | ARSA | c.*41G>T (n.*41G>T) c.180+259G>T c.*304G>T (n.*304G>T) | gnomAD v4 |
| 22 | g.50625104C= | CA2410958315 | ARSA | c.*41G= (n.*41G=) c.180+259G= c.*304G= (n.*304G=) | |
| 22 | g.50625104C>T | CA1026680073 | ARSA | c.*41G>A (n.*41G>A) c.180+259G>A c.*304G>A (n.*304G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50625105A>G | CA2657590537 | ARSA | c.*40T>C (n.*40T>C) c.180+258T>C c.*303T>C (n.*303T>C) | gnomAD v4 |
| 22 | g.50625106G>A | CA1026680077 | ARSA | c.*39C>T (n.*39C>T) c.180+257C>T c.*302C>T (n.*302C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50625106G>C | CA2657590539 | ARSA | c.*39C>G (n.*39C>G) c.180+257C>G c.*302C>G (n.*302C>G) | gnomAD v4 |
| 22 | g.50625106G= | CA2410958316 | ARSA | c.*39C= (n.*39C=) c.180+257C= c.*302C= (n.*302C=) | |
| 22 | g.50625106G>T | CA2657590541 | ARSA | c.*39C>A (n.*39C>A) c.180+257C>A c.*302C>A (n.*302C>A) | gnomAD v4 |
| 22 | g.50625107T>A | CA2657590546 | ARSA | c.*38A>T (n.*38A>T) c.180+256A>T c.*301A>T (n.*301A>T) | gnomAD v4 |
| 22 | g.50625107T>C | CA640358544 | ARSA | c.*38A>G (n.*38A>G) c.180+256A>G c.*301A>G (n.*301A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50625107T= | CA2410958317 | ARSA | c.*38A= (n.*38A=) c.180+256A= c.*301A= (n.*301A=) | |
| 22 | g.50625108G>A | CA10324708 | ARSA | c.*37C>T (n.*37C>T) c.180+255C>T c.*300C>T (n.*300C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625108G>C | CA2657590552 | ARSA | c.*37C>G (n.*37C>G) c.180+255C>G c.*300C>G (n.*300C>G) | gnomAD v4 |
| 22 | g.50625108G= | CA2410958318 | ARSA | c.*37C= (n.*37C=) c.180+255C= c.*300C= (n.*300C=) | |
| 22 | g.50625108G>T | CA325531131 | ARSA | c.*37C>A (n.*37C>A) c.180+255C>A c.*300C>A (n.*300C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625109A>G | CA2657590558 | ARSA | c.*36T>C (n.*36T>C) c.180+254T>C c.*299T>C (n.*299T>C) | gnomAD v4 |
| 22 | g.50625110G>A | CA2657590560 | ARSA | c.*35C>T (n.*35C>T) c.180+253C>T c.*298C>T (n.*298C>T) | gnomAD v4 |
| 22 | g.50625110G>T | CA2657590561 | ARSA | c.*35C>A (n.*35C>A) c.180+253C>A c.*298C>A (n.*298C>A) | gnomAD v4 |
| 22 | g.50625111G>A | CA640358545 | ARSA | c.*34C>T (n.*34C>T) c.180+252C>T c.*297C>T (n.*297C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50625111G= | CA2410958319 | ARSA | c.*34C= (n.*34C=) c.180+252C= c.*297C= (n.*297C=) | |
| 22 | g.50625111G>T | CA2657590563 | ARSA | c.*34C>A (n.*34C>A) c.180+252C>A c.*297C>A (n.*297C>A) | gnomAD v4 |
| 22 | g.50625112A>G | CA2657590564 | ARSA | c.*33T>C (n.*33T>C) c.180+251T>C c.*296T>C (n.*296T>C) | gnomAD v4 |
| 22 | g.50625113G>A | CA2410958321 | ARSA | c.*32C>T (n.*32C>T) c.180+250C>T c.*295C>T (n.*295C>T) | dbSNP gnomAD v4 |
| 22 | g.50625113G= | CA2410958320 | ARSA | c.*32C= (n.*32C=) c.180+250C= c.*295C= (n.*295C=) | |
| 22 | g.50625113G>T | CA2657590567 | ARSA | c.*32C>A (n.*32C>A) c.180+250C>A c.*295C>A (n.*295C>A) | gnomAD v4 |
| 22 | g.50625114C>A | CA2657590573 | ARSA | c.*31G>T (n.*31G>T) c.180+249G>T c.*294G>T (n.*294G>T) | gnomAD v4 |
| 22 | g.50625114C= | CA2410958322 | ARSA | c.*31G= (n.*31G=) c.180+249G= c.*294G= (n.*294G=) | |
| 22 | g.50625114C>G | CA640358546 | ARSA | c.*31G>C (n.*31G>C) c.180+249G>C c.*294G>C (n.*294G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625114C>T | CA640358547 | ARSA | c.*31G>A (n.*31G>A) c.180+249G>A c.*294G>A (n.*294G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50625115C>A | CA2657590575 | ARSA | c.*30G>T (n.*30G>T) c.180+248G>T c.*293G>T (n.*293G>T) | gnomAD v4 |
| 22 | g.50625115C>T | CA2657590574 | ARSA | c.*30G>A (n.*30G>A) c.180+248G>A c.*293G>A (n.*293G>A) | gnomAD v4 |
| 22 | g.50625116A>G | CA2657590576 | ARSA | c.*29T>C (n.*29T>C) c.180+247T>C c.*292T>C (n.*292T>C) | gnomAD v4 |
| 22 | g.50625117T>C | CA640358548 | ARSA | c.*28A>G (n.*28A>G) c.180+246A>G c.*291A>G (n.*291A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50625117T= | CA2410958323 | ARSA | c.*28A= (n.*28A=) c.180+246A= c.*291A= (n.*291A=) | |
| 22 | g.50625118C>A | CA2657590577 | ARSA | c.*27G>T (n.*27G>T) c.180+245G>T c.*290G>T (n.*290G>T) | gnomAD v4 |
| 22 | g.50625119A>C | CA2819316017 | ARSA | c.*26T>G (n.*26T>G) c.180+244T>G c.*289T>G (n.*289T>G) | |
| 22 | g.50625119A>G | CA2657590580 | ARSA | c.*26T>C (n.*26T>C) c.180+244T>C c.*289T>C (n.*289T>C) | gnomAD v4 |
| 22 | g.50625120C>A | CA2657590581 | ARSA | c.*25G>T (n.*25G>T) c.180+243G>T c.*288G>T (n.*288G>T) | gnomAD v4 |
| 22 | g.50625120C>T | CA2657590582 | ARSA | c.*25G>A (n.*25G>A) c.180+243G>A c.*288G>A (n.*288G>A) | gnomAD v4 |
| 22 | g.50625121A>G | CA2657590583 | ARSA | c.*24T>C (n.*24T>C) c.180+242T>C c.*287T>C (n.*287T>C) | gnomAD v4 |
| 22 | g.50625121A>T | CA2657590584 | ARSA | c.*24T>A (n.*24T>A) c.180+242T>A c.*287T>A (n.*287T>A) | gnomAD v4 |
| 22 | g.50625122T>C | CA10324709 | ARSA | c.*23A>G (n.*23A>G) c.180+241A>G c.*286A>G (n.*286A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50625122T= | CA2410958324 | ARSA | c.*23A= (n.*23A=) c.180+241A= c.*286A= (n.*286A=) | |
| 22 | g.50625123G>A | CA2657590587 | ARSA | c.*22C>T (n.*22C>T) c.180+240C>T c.*285C>T (n.*285C>T) | gnomAD v4 |
| 22 | g.50625123G>C | CA754067198 | ARSA | c.*22C>G (n.*22C>G) c.180+240C>G c.*285C>G (n.*285C>G) | dbSNP |
| 22 | g.50625123G= | CA2410958325 | ARSA | c.*22C= (n.*22C=) c.180+240C= c.*285C= (n.*285C=) | |
| 22 | g.50625123G>T | CA325531136 | ARSA | c.*22C>A (n.*22C>A) c.180+240C>A c.*285C>A (n.*285C>A) | dbSNP gnomAD v4 |
| 22 | g.50625124C>A | CA2657590588 | ARSA | c.*21G>T (n.*21G>T) c.180+239G>T c.*284G>T (n.*284G>T) | gnomAD v4 |
| 22 | g.50625124C>T | CA2657590590 | ARSA | c.*21G>A (n.*21G>A) c.180+239G>A c.*284G>A (n.*284G>A) | gnomAD v4 |
| 22 | g.50625126del | CA2819316020 | ARSA | c.*21del (n.*21del) c.180+239del c.*284del (n.*284del) | |
| 22 | g.50625125C>A | CA2657590593 | ARSA | c.*20G>T (n.*20G>T) c.180+238G>T c.*283G>T (n.*283G>T) | gnomAD v4 |
| 22 | g.50625125C= | CA2410958326 | ARSA | c.*20G= (n.*20G=) c.180+238G= c.*283G= (n.*283G=) | |
| 22 | g.50625125C>T | CA2410958327 | ARSA | c.*20G>A (n.*20G>A) c.180+238G>A c.*283G>A (n.*283G>A) | dbSNP gnomAD v4 |
| 22 | g.50625126C>A | CA2657590594 | ARSA | c.*19G>T (n.*19G>T) c.180+237G>T c.*282G>T (n.*282G>T) | gnomAD v4 |
| 22 | g.50625126C= | CA2410958328 | ARSA | c.*19G= (n.*19G=) c.180+237G= c.*282G= (n.*282G=) | |
| 22 | g.50625126C>T | CA1026680088 | ARSA | c.*19G>A (n.*19G>A) c.180+237G>A c.*282G>A (n.*282G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50625127A>G | CA2657590596 | ARSA | c.*18T>C (n.*18T>C) c.180+236T>C c.*281T>C (n.*281T>C) | gnomAD v4 |
| 22 | g.50625127A>T | CA2657590597 | ARSA | c.*18T>A (n.*18T>A) c.180+236T>A c.*281T>A (n.*281T>A) | gnomAD v4 |
| 22 | g.50625128G>A | CA325531138 | ARSA | c.*17C>T (n.*17C>T) c.180+235C>T c.*280C>T (n.*280C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625128G>C | CA2657590601 | ARSA | c.*17C>G (n.*17C>G) c.180+235C>G c.*280C>G (n.*280C>G) | gnomAD v4 |
| 22 | g.50625128G= | CA2410958329 | ARSA | c.*17C= (n.*17C=) c.180+235C= c.*280C= (n.*280C=) | |
| 22 | g.50625129G>A | CA2657590604 | ARSA | c.*16C>T (n.*16C>T) c.180+234C>T c.*279C>T (n.*279C>T) | gnomAD v4 |
| 22 | g.50625129G>T | CA2657590605 | ARSA | c.*16C>A (n.*16C>A) c.180+234C>A c.*279C>A (n.*279C>A) | gnomAD v4 |
| 22 | g.50625130C>A | CA2657590610 | ARSA | c.*15G>T (n.*15G>T) c.180+233G>T c.*278G>T (n.*278G>T) | gnomAD v4 |
| 22 | g.50625130C= | CA2410958330 | ARSA | c.*15G= (n.*15G=) c.180+233G= c.*278G= (n.*278G=) | |
| 22 | g.50625130C>T | CA10324710 | ARSA | c.*15G>A (n.*15G>A) c.180+233G>A c.*278G>A (n.*278G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625131C>A | CA2657590613 | ARSA | c.*14G>T (n.*14G>T) c.180+232G>T c.*277G>T (n.*277G>T) | gnomAD v4 |
| 22 | g.50625131C= | CA2410958331 | ARSA | c.*14G= (n.*14G=) c.180+232G= c.*277G= (n.*277G=) | |
| 22 | g.50625131C>T | CA10324711 | ARSA | c.*14G>A (n.*14G>A) c.180+232G>A c.*277G>A (n.*277G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625132A>C | CA2657590614 | ARSA | c.*13T>G (n.*13T>G) c.180+231T>G c.*276T>G (n.*276T>G) | gnomAD v4 |
| 22 | g.50625133G>A | CA2657590617 | ARSA | c.*12C>T (n.*12C>T) c.180+230C>T c.*275C>T (n.*275C>T) | gnomAD v4 |
| 22 | g.50625133G>C | CA2657590615 | ARSA | c.*12C>G (n.*12C>G) c.180+230C>G c.*275C>G (n.*275C>G) | gnomAD v4 |
| 22 | g.50625133G>T | CA2657590616 | ARSA | c.*12C>A (n.*12C>A) c.180+230C>A c.*275C>A (n.*275C>A) | gnomAD v4 |
| 22 | g.50625134C>A | CA2657590618 | ARSA | c.*11G>T (n.*11G>T) c.180+229G>T c.*274G>T (n.*274G>T) | gnomAD v4 |
| 22 | g.50625134C>T | CA2657590619 | ARSA | c.*11G>A (n.*11G>A) c.180+229G>A c.*274G>A (n.*274G>A) | gnomAD v4 |
| 22 | g.50625135C>A | CA2577767850 | ARSA | c.*10G>T (n.*10G>T) c.180+228G>T c.*273G>T (n.*273G>T) | gnomAD v4 |
| 22 | g.50625135C= | CA2410958332 | ARSA | c.*10G= (n.*10G=) c.180+228G= c.*273G= (n.*273G=) | |
| 22 | g.50625135C>G | CA10324712 | ARSA | c.*10G>C (n.*10G>C) c.180+228G>C c.*273G>C (n.*273G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50625135C>T | CA640358549 | ARSA | c.*10G>A (n.*10G>A) c.180+228G>A c.*273G>A (n.*273G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50625136G>A | CA10324713 | ARSA | c.*9C>T (n.*9C>T) c.180+227C>T c.*272C>T (n.*272C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625136G= | CA2410958333 | ARSA | c.*9C= (n.*9C=) c.180+227C= c.*272C= (n.*272C=) | |
| 22 | g.50625136G>T | CA2657590621 | ARSA | c.*9C>A (n.*9C>A) c.180+227C>A c.*272C>A (n.*272C>A) | gnomAD v4 |
| 22 | g.50625137A>G | CA2657590622 | ARSA | c.*8T>C (n.*8T>C) c.180+226T>C c.*271T>C (n.*271T>C) | gnomAD v4 |
| 22 | g.50625138G>A | CA640358550 | ARSA | c.*7C>T (n.*7C>T) c.180+225C>T c.*270C>T (n.*270C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50625138G= | CA2410958334 | ARSA | c.*7C= (n.*7C=) c.180+225C= c.*270C= (n.*270C=) | |
| 22 | g.50625138G>T | CA2657590623 | ARSA | c.*7C>A (n.*7C>A) c.180+225C>A c.*270C>A (n.*270C>A) | gnomAD v4 |
| 22 | g.50625141del | CA2819316022 | ARSA | c.*7del (n.*7del) c.180+225del c.*270del (n.*270del) | |
| 22 | g.50625139G>A | CA2657590625 | ARSA | c.*6C>T (n.*6C>T) c.180+224C>T c.*269C>T (n.*269C>T) | gnomAD v4 |
| 22 | g.50625139G>T | CA2657590624 | ARSA | c.*6C>A (n.*6C>A) c.180+224C>A c.*269C>A (n.*269C>A) | gnomAD v4 |
| 22 | g.50625140G>A | CA2657590626 | ARSA | c.*5C>T (n.*5C>T) c.180+223C>T c.*268C>T (n.*268C>T) | gnomAD v4 |
| 22 | g.50625140G>C | CA2819316024 | ARSA | c.*5C>G (n.*5C>G) c.180+223C>G c.*268C>G (n.*268C>G) | |
| 22 | g.50625140G>T | CA2657590627 | ARSA | c.*5C>A (n.*5C>A) c.180+223C>A c.*268C>A (n.*268C>A) | gnomAD v4 |
| 22 | g.50625141G>A | CA2657590628 | ARSA | c.*4C>T (n.*4C>T) c.180+222C>T c.*267C>T (n.*267C>T) | gnomAD v4 |
| 22 | g.50625141G>T | CA2657590629 | ARSA | c.*4C>A (n.*4C>A) c.180+222C>A c.*267C>A (n.*267C>A) | gnomAD v4 |
| 22 | g.50625142C>A | CA2657590631 | ARSA | c.*3G>T (n.*3G>T) c.180+221G>T c.*266G>T (n.*266G>T) | gnomAD v4 |
| 22 | g.50625142C= | CA2410958335 | ARSA | c.*3G= (n.*3G=) c.180+221G= c.*266G= (n.*266G=) | |
| 22 | g.50625142C>G | CA2657590632 | ARSA | c.*3G>C (n.*3G>C) c.180+221G>C c.*266G>C (n.*266G>C) | gnomAD v4 |
| 22 | g.50625142C>T | CA640358551 | ARSA | c.*3G>A (n.*3G>A) c.180+221G>A c.*266G>A (n.*266G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625144del | CA2657590630 | ARSA | c.*3del (n.*3del) c.180+221del c.*266del (n.*266del) | gnomAD v4 |
| 22 | g.50625143C= | CA2410958336 | ARSA | c.*2G= (n.*2G=) c.180+220G= c.*265G= (n.*265G=) | |
| 22 | g.50625143C>T | CA325531145 | ARSA | c.*2G>A (n.*2G>A) c.180+220G>A c.*265G>A (n.*265G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625144C>A | CA2657590633 | ARSA | c.*1G>T (n.*1G>T) c.180+219G>T c.*264G>T (n.*264G>T) | gnomAD v4 |
| 22 | g.50625144C>T | CA2657590634 | ARSA | c.*1G>A (n.*1G>A) c.180+219G>A c.*264G>A (n.*264G>A) | gnomAD v4 |
| 22 | g.50625145T>A | CA412166545 | ARSA | c.1530A>T (p.Ter510Cys) c.1272A>T (p.Ter424Cys) c.180+218A>T c.*263A>T (n.*263A>T) c.1644A>T (p.Ter548Cys) | gnomAD v4 |
| 22 | g.50625145T>C | CA412166546 | ARSA | c.1530A>G (p.Ter510Trp) c.1272A>G (p.Ter424Trp) c.180+218A>G c.*263A>G (n.*263A>G) c.1644A>G (p.Ter548Trp) | gnomAD v4 |
| 22 | g.50625145T>G | CA412166547 | ARSA | c.1530A>C (p.Ter510Cys) c.1272A>C (p.Ter424Cys) c.180+218A>C c.*263A>C (n.*263A>C) c.1644A>C (p.Ter548Cys) | |
| 22 | g.50625146C>A | CA412166551 | ARSA | c.1529G>T (p.Ter510Leu) c.1271G>T (p.Ter424Leu) c.180+217G>T c.*262G>T (n.*262G>T) c.1643G>T (p.Ter548Leu) | gnomAD v4 |
| 22 | g.50625146C>G | CA412166549 | ARSA | c.1529G>C (p.Ter510Ser) c.1271G>C (p.Ter424Ser) c.180+217G>C c.*262G>C (n.*262G>C) c.1643G>C (p.Ter548Ser) | |
| 22 | g.50625146C>T | CA515390741 | ARSA | c.1529G>A (p.Ter510=) c.1271G>A (p.Ter424=) c.180+217G>A c.*262G>A (n.*262G>A) c.1643G>A (p.Ter548=) | gnomAD v4 |
| 22 | g.50625147A>C | CA412166558 | ARSA | c.1528T>G (p.Ter510Gly) c.1270T>G (p.Ter424Gly) c.180+216T>G c.*261T>G (n.*261T>G) c.1642T>G (p.Ter548Gly) | |
| 22 | g.50625147A>G | CA412166561 | ARSA | c.1528T>C (p.Ter510Arg) c.1270T>C (p.Ter424Arg) c.180+216T>C c.*261T>C (n.*261T>C) c.1642T>C (p.Ter548Arg) | ClinVar gnomAD v4 |
| 22 | g.50625147A>T | CA412166563 | ARSA | c.1528T>A (p.Ter510Arg) c.1270T>A (p.Ter424Arg) c.180+216T>A c.*261T>A (n.*261T>A) c.1642T>A (p.Ter548Arg) | |
| 22 | g.50625148G>A | CA515390746 | ARSA | c.1527C>T (p.Ala509=) c.1269C>T (p.Ala423=) c.180+215C>T c.*260C>T (n.*260C>T) c.1641C>T (p.Ala547=) | gnomAD v4 |
| 22 | g.50625148G>C | CA515390743 | ARSA | c.1527C>G (p.Ala509=) c.1269C>G (p.Ala423=) c.180+215C>G c.*260C>G (n.*260C>G) c.1641C>G (p.Ala547=) | gnomAD v4 |
| 22 | g.50625148G= | CA2410958337 | ARSA | c.1527C= (p.Ala509=) c.1269C= (p.Ala423=) c.180+215C= c.*260C= (n.*260C=) c.1641C= (p.Ala547=) | |
| 22 | g.50625148G>T | CA515390745 | ARSA | c.1527C>A (p.Ala509=) c.1269C>A (p.Ala423=) c.180+215C>A c.*260C>A (n.*260C>A) c.1641C>A (p.Ala547=) | ClinVar dbSNP gnomAD v4 |
| 22 | g.50625149G>A | CA412166564 | ARSA | c.1526C>T (p.Ala509Val) c.1268C>T (p.Ala423Val) c.180+214C>T c.*259C>T (n.*259C>T) c.1640C>T (p.Ala547Val) | gnomAD v4 |
| 22 | g.50625149G>C | CA412166566 | ARSA | c.1526C>G (p.Ala509Gly) c.1268C>G (p.Ala423Gly) c.180+214C>G c.*259C>G (n.*259C>G) c.1640C>G (p.Ala547Gly) | gnomAD v4 |
| 22 | g.50625149G>T | CA412166568 | ARSA | c.1526C>A (p.Ala509Asp) c.1268C>A (p.Ala423Asp) c.180+214C>A c.*259C>A (n.*259C>A) c.1640C>A (p.Ala547Asp) | gnomAD v4 |
| 22 | g.50625150C>A | CA412166573 | ARSA | c.1525G>T (p.Ala509Ser) c.1267G>T (p.Ala423Ser) c.180+213G>T c.*258G>T (n.*258G>T) c.1639G>T (p.Ala547Ser) | gnomAD v4 |
| 22 | g.50625150C>G | CA412166570 | ARSA | c.1525G>C (p.Ala509Pro) c.1267G>C (p.Ala423Pro) c.180+213G>C c.*258G>C (n.*258G>C) c.1639G>C (p.Ala547Pro) | gnomAD v4 |
| 22 | g.50625150C>T | CA412166571 | ARSA | c.1525G>A (p.Ala509Thr) c.1267G>A (p.Ala423Thr) c.180+213G>A c.*258G>A (n.*258G>A) c.1639G>A (p.Ala547Thr) | gnomAD v4 |
| 22 | g.50625151A= | CA2410958338 | ARSA | c.1524T= (p.His508=) c.1266T= (p.His422=) c.180+212T= c.*257T= (n.*257T=) c.1638T= (p.His546=) | |
| 22 | g.50625151A>C | CA10324714 | ARSA | c.1524T>G (p.His508Gln) c.1266T>G (p.His422Gln) c.180+212T>G c.*257T>G (n.*257T>G) c.1638T>G (p.His546Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625151A>G | CA515390754 | ARSA | c.1524T>C (p.His508=) c.1266T>C (p.His422=) c.180+212T>C c.*257T>C (n.*257T>C) c.1638T>C (p.His546=) | |
| 22 | g.50625151A>T | CA412166580 | ARSA | c.1524T>A (p.His508Gln) c.1266T>A (p.His422Gln) c.180+212T>A c.*257T>A (n.*257T>A) c.1638T>A (p.His546Gln) | |
| 22 | g.50625152T>A | CA412166584 | ARSA | c.1523A>T (p.His508Leu) c.1265A>T (p.His422Leu) c.180+211A>T c.*256A>T (n.*256A>T) c.1637A>T (p.His546Leu) | |
| 22 | g.50625152T>C | CA412166587 | ARSA | c.1523A>G (p.His508Arg) c.1265A>G (p.His422Arg) c.180+211A>G c.*256A>G (n.*256A>G) c.1637A>G (p.His546Arg) | ClinVar dbSNP gnomAD v4 |
| 22 | g.50625152T>G | CA412166591 | ARSA | c.1523A>C (p.His508Pro) c.1265A>C (p.His422Pro) c.180+211A>C c.*256A>C (n.*256A>C) c.1637A>C (p.His546Pro) | |
| 22 | g.50625152T= | CA2410958339 | ARSA | c.1523A= (p.His508=) c.1265A= (p.His422=) c.180+211A= c.*256A= (n.*256A=) c.1637A= (p.His546=) | |
| 22 | g.50625153G>A | CA412166594 | ARSA | c.1522C>T (p.His508Tyr) c.1264C>T (p.His422Tyr) c.180+210C>T c.*255C>T (n.*255C>T) c.1636C>T (p.His546Tyr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50625153G>C | CA412166599 | ARSA | c.1522C>G (p.His508Asp) c.1264C>G (p.His422Asp) c.180+210C>G c.*255C>G (n.*255C>G) c.1636C>G (p.His546Asp) | |
| 22 | g.50625153G= | CA2410958340 | ARSA | c.1522C= (p.His508=) c.1264C= (p.His422=) c.180+210C= c.*255C= (n.*255C=) c.1636C= (p.His546=) | |
| 22 | g.50625153G>T | CA412166596 | ARSA | c.1522C>A (p.His508Asn) c.1264C>A (p.His422Asn) c.180+210C>A c.*255C>A (n.*255C>A) c.1636C>A (p.His546Asn) | gnomAD v4 |
| 22 | g.50625156del | CA2657590635 | ARSA | c.1522del (p.His508MetfsTer12) c.1264del (p.His422MetfsTer12) c.180+210del c.*255del (n.*255del) c.1636del (p.His546MetfsTer12) | gnomAD v4 |
| 22 | g.50625154G>A | CA515390763 | ARSA | c.1521C>T (p.Pro507=) c.1263C>T (p.Pro421=) c.180+209C>T c.*254C>T (n.*254C>T) c.1635C>T (p.Pro545=) | dbSNP gnomAD v4 |
| 22 | g.50625154G>C | CA515390764 | ARSA | c.1521C>G (p.Pro507=) c.1263C>G (p.Pro421=) c.180+209C>G c.*254C>G (n.*254C>G) c.1635C>G (p.Pro545=) | |
| 22 | g.50625154G= | CA2410958341 | ARSA | c.1521C= (p.Pro507=) c.1263C= (p.Pro421=) c.180+209C= c.*254C= (n.*254C=) c.1635C= (p.Pro545=) | |
| 22 | g.50625154G>T | CA515390765 | ARSA | c.1521C>A (p.Pro507=) c.1263C>A (p.Pro421=) c.180+209C>A c.*254C>A (n.*254C>A) c.1635C>A (p.Pro545=) | gnomAD v4 COSMIC |
| 22 | g.50625155G>A | CA412166605 | ARSA | c.1520C>T (p.Pro507Leu) c.1262C>T (p.Pro421Leu) c.180+208C>T c.*253C>T (n.*253C>T) c.1634C>T (p.Pro545Leu) | gnomAD v4 |
| 22 | g.50625155G>C | CA412166608 | ARSA | c.1520C>G (p.Pro507Arg) c.1262C>G (p.Pro421Arg) c.180+208C>G c.*253C>G (n.*253C>G) c.1634C>G (p.Pro545Arg) | |
| 22 | g.50625155G>T | CA412166613 | ARSA | c.1520C>A (p.Pro507His) c.1262C>A (p.Pro421His) c.180+208C>A c.*253C>A (n.*253C>A) c.1634C>A (p.Pro545His) | gnomAD v4 |
| 22 | g.50625156G>A | CA412166617 | ARSA | c.1519C>T (p.Pro507Ser) c.1261C>T (p.Pro421Ser) c.180+207C>T c.*252C>T (n.*252C>T) c.1633C>T (p.Pro545Ser) | |
| 22 | g.50625156G>C | CA412166620 | ARSA | c.1519C>G (p.Pro507Ala) c.1261C>G (p.Pro421Ala) c.180+207C>G c.*252C>G (n.*252C>G) c.1633C>G (p.Pro545Ala) | |
| 22 | g.50625156G>T | CA412166623 | ARSA | c.1519C>A (p.Pro507Thr) c.1261C>A (p.Pro421Thr) c.180+207C>A c.*252C>A (n.*252C>A) c.1633C>A (p.Pro545Thr) | gnomAD v4 |
| 22 | g.50625157A>C | CA412166640 | ARSA | c.1518T>G (p.Asp506Glu) c.1260T>G (p.Asp420Glu) c.180+206T>G c.*251T>G (n.*251T>G) c.1632T>G (p.Asp544Glu) | |
| 22 | g.50625157A>G | CA515390768 | ARSA | c.1518T>C (p.Asp506=) c.1260T>C (p.Asp420=) c.180+206T>C c.*251T>C (n.*251T>C) c.1632T>C (p.Asp544=) | |
| 22 | g.50625157A>T | CA412166642 | ARSA | c.1518T>A (p.Asp506Glu) c.1260T>A (p.Asp420Glu) c.180+206T>A c.*251T>A (n.*251T>A) c.1632T>A (p.Asp544Glu) | |
| 22 | g.50625158T>A | CA412166643 | ARSA | c.1517A>T (p.Asp506Val) c.1259A>T (p.Asp420Val) c.180+205A>T c.*250A>T (n.*250A>T) c.1631A>T (p.Asp544Val) | gnomAD v4 |
| 22 | g.50625158T>C | CA412166644 | ARSA | c.1517A>G (p.Asp506Gly) c.1259A>G (p.Asp420Gly) c.180+205A>G c.*250A>G (n.*250A>G) c.1631A>G (p.Asp544Gly) | |
| 22 | g.50625158T>G | CA412166646 | ARSA | c.1517A>C (p.Asp506Ala) c.1259A>C (p.Asp420Ala) c.180+205A>C c.*250A>C (n.*250A>C) c.1631A>C (p.Asp544Ala) | |
| 22 | g.50625159C>A | CA10324715 | ARSA | c.1516G>T (p.Asp506Tyr) c.1258G>T (p.Asp420Tyr) c.180+204G>T c.*249G>T (n.*249G>T) c.1630G>T (p.Asp544Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50625159C= | CA2410958342 | ARSA | c.1516G= (p.Asp506=) c.1258G= (p.Asp420=) c.180+204G= c.*249G= (n.*249G=) c.1630G= (p.Asp544=) | |
| 22 | g.50625159C>G | CA412166649 | ARSA | c.1516G>C (p.Asp506His) c.1258G>C (p.Asp420His) c.180+204G>C c.*249G>C (n.*249G>C) c.1630G>C (p.Asp544His) | gnomAD v4 |
| 22 | g.50625159C>T | CA412166648 | ARSA | c.1516G>A (p.Asp506Asn) c.1258G>A (p.Asp420Asn) c.180+204G>A c.*249G>A (n.*249G>A) c.1630G>A (p.Asp544Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50625160T>A | CA515390773 | ARSA | c.1515A>T (p.Pro505=) c.1257A>T (p.Pro419=) c.180+203A>T c.*248A>T (n.*248A>T) c.1629A>T (p.Pro543=) | |
| 22 | g.50625160T>C | CA515390774 | ARSA | c.1515A>G (p.Pro505=) c.1257A>G (p.Pro419=) c.180+203A>G c.*248A>G (n.*248A>G) c.1629A>G (p.Pro543=) | gnomAD v4 |
| 22 | g.50625160T>G | CA515390775 | ARSA | c.1515A>C (p.Pro505=) c.1257A>C (p.Pro419=) c.180+203A>C c.*248A>C (n.*248A>C) c.1629A>C (p.Pro543=) | |
| 22 | g.50625161G>A | CA412166653 | ARSA | c.1514C>T (p.Pro505Leu) c.1256C>T (p.Pro419Leu) c.180+202C>T c.*247C>T (n.*247C>T) c.1628C>T (p.Pro543Leu) | gnomAD v4 |
| 22 | g.50625161G>C | CA412166659 | ARSA | c.1514C>G (p.Pro505Arg) c.1256C>G (p.Pro419Arg) c.180+202C>G c.*247C>G (n.*247C>G) c.1628C>G (p.Pro543Arg) | |
| 22 | g.50625161G>T | CA412166656 | ARSA | c.1514C>A (p.Pro505Gln) c.1256C>A (p.Pro419Gln) c.180+202C>A c.*247C>A (n.*247C>A) c.1628C>A (p.Pro543Gln) | gnomAD v4 |
| 22 | g.50625162G>A | CA412166664 | ARSA | c.1513C>T (p.Pro505Ser) c.1255C>T (p.Pro419Ser) c.180+201C>T c.*246C>T (n.*246C>T) c.1627C>T (p.Pro543Ser) | gnomAD v4 |
| 22 | g.50625162G>C | CA412166667 | ARSA | c.1513C>G (p.Pro505Ala) c.1255C>G (p.Pro419Ala) c.180+201C>G c.*246C>G (n.*246C>G) c.1627C>G (p.Pro543Ala) | |
| 22 | g.50625162G>T | CA412166669 | ARSA | c.1513C>A (p.Pro505Thr) c.1255C>A (p.Pro419Thr) c.180+201C>A c.*246C>A (n.*246C>A) c.1627C>A (p.Pro543Thr) | gnomAD v4 |
| 22 | g.50625163G>A | CA515390781 | ARSA | c.1512C>T (p.Cys504=) c.1254C>T (p.Cys418=) c.180+200C>T c.*245C>T (n.*245C>T) c.1626C>T (p.Cys542=) | ClinVar dbSNP gnomAD v4 COSMIC |
| 22 | g.50625163G>C | CA412166674 | ARSA | c.1512C>G (p.Cys504Trp) c.1254C>G (p.Cys418Trp) c.180+200C>G c.*245C>G (n.*245C>G) c.1626C>G (p.Cys542Trp) | |
| 22 | g.50625163G>T | CA412166677 | ARSA | c.1512C>A (p.Cys504Ter) c.1254C>A (p.Cys418Ter) c.180+200C>A c.*245C>A (n.*245C>A) c.1626C>A (p.Cys542Ter) | gnomAD v4 |
| 22 | g.50625163_50625164delinsGC | CA2410958343 | ARSA | c.1511_1512delinsGC (p.Cys504=) c.1253_1254delinsGC (p.Cys418=) c.180+199_180+200delinsGC c.*244_*245delinsGC (n.*244_*245delinsGC) c.1625_1626delinsGC (p.Cys542=) | |
| 22 | g.50625164del | CA640358552 | ARSA | c.1511del (p.Cys504SerfsTer16) c.1253del (p.Cys418SerfsTer16) c.180+199del c.*244del (n.*244del) c.1625del (p.Cys542SerfsTer16) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625164C>A | CA412166684 | ARSA | c.1511G>T (p.Cys504Phe) c.1253G>T (p.Cys418Phe) c.180+199G>T c.*244G>T (n.*244G>T) c.1625G>T (p.Cys542Phe) | gnomAD v4 |
| 22 | g.50625164C>G | CA412166686 | ARSA | c.1511G>C (p.Cys504Ser) c.1253G>C (p.Cys418Ser) c.180+199G>C c.*244G>C (n.*244G>C) c.1625G>C (p.Cys542Ser) | |
| 22 | g.50625164C>T | CA412166689 | ARSA | c.1511G>A (p.Cys504Tyr) c.1253G>A (p.Cys418Tyr) c.180+199G>A c.*244G>A (n.*244G>A) c.1625G>A (p.Cys542Tyr) | gnomAD v4 |
| 22 | g.50625165A>C | CA412166691 | ARSA | c.1510T>G (p.Cys504Gly) c.1252T>G (p.Cys418Gly) c.180+198T>G c.*243T>G (n.*243T>G) c.1624T>G (p.Cys542Gly) | |
| 22 | g.50625165A>G | CA412166693 | ARSA | c.1510T>C (p.Cys504Arg) c.1252T>C (p.Cys418Arg) c.180+198T>C c.*243T>C (n.*243T>C) c.1624T>C (p.Cys542Arg) | |
| 22 | g.50625165A>T | CA412166697 | ARSA | c.1510T>A (p.Cys504Ser) c.1252T>A (p.Cys418Ser) c.180+198T>A c.*243T>A (n.*243T>A) c.1624T>A (p.Cys542Ser) | |
| 22 | g.50625166A>C | CA412166701 | ARSA | c.1509T>G (p.His503Gln) c.1251T>G (p.His417Gln) c.180+197T>G c.*242T>G (n.*242T>G) c.1623T>G (p.His541Gln) | gnomAD v4 |
| 22 | g.50625166A>G | CA515390788 | ARSA | c.1509T>C (p.His503=) c.1251T>C (p.His417=) c.180+197T>C c.*242T>C (n.*242T>C) c.1623T>C (p.His541=) | |
| 22 | g.50625166A>T | CA412166703 | ARSA | c.1509T>A (p.His503Gln) c.1251T>A (p.His417Gln) c.180+197T>A c.*242T>A (n.*242T>A) c.1623T>A (p.His541Gln) | |
| 22 | g.50625167T>A | CA412166718 | ARSA | c.1508A>T (p.His503Leu) c.1250A>T (p.His417Leu) c.180+196A>T c.*241A>T (n.*241A>T) c.1622A>T (p.His541Leu) | gnomAD v4 |
| 22 | g.50625167T>C | CA412166712 | ARSA | c.1508A>G (p.His503Arg) c.1250A>G (p.His417Arg) c.180+196A>G c.*241A>G (n.*241A>G) c.1622A>G (p.His541Arg) | gnomAD v4 |
| 22 | g.50625167T>G | CA412166711 | ARSA | c.1508A>C (p.His503Pro) c.1250A>C (p.His417Pro) c.180+196A>C c.*241A>C (n.*241A>C) c.1622A>C (p.His541Pro) | |
| 22 | g.50625168G>A | CA10324716 | ARSA | c.1507C>T (p.His503Tyr) c.1249C>T (p.His417Tyr) c.180+195C>T c.*240C>T (n.*240C>T) c.1621C>T (p.His541Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625168G>C | CA412166728 | ARSA | c.1507C>G (p.His503Asp) c.1249C>G (p.His417Asp) c.180+195C>G c.*240C>G (n.*240C>G) c.1621C>G (p.His541Asp) | dbSNP |
| 22 | g.50625168G= | CA2410958344 | ARSA | c.1507C= (p.His503=) c.1249C= (p.His417=) c.180+195C= c.*240C= (n.*240C=) c.1621C= (p.His541=) | |
| 22 | g.50625168G>T | CA412166729 | ARSA | c.1507C>A (p.His503Asn) c.1249C>A (p.His417Asn) c.180+195C>A c.*240C>A (n.*240C>A) c.1621C>A (p.His541Asn) | gnomAD v4 |
| 22 | g.50625169G>A | CA515390793 | ARSA | c.1506C>T (p.Cys502=) c.1248C>T (p.Cys416=) c.180+194C>T c.*239C>T (n.*239C>T) c.1620C>T (p.Cys540=) | gnomAD v4 COSMIC |
| 22 | g.50625169G>C | CA412166730 | ARSA | c.1506C>G (p.Cys502Trp) c.1248C>G (p.Cys416Trp) c.180+194C>G c.*239C>G (n.*239C>G) c.1620C>G (p.Cys540Trp) | gnomAD v4 |
| 22 | g.50625169G>T | CA412166732 | ARSA | c.1506C>A (p.Cys502Ter) c.1248C>A (p.Cys416Ter) c.180+194C>A c.*239C>A (n.*239C>A) c.1620C>A (p.Cys540Ter) | gnomAD v4 |
| 22 | g.50625170C>A | CA412166735 | ARSA | c.1505G>T (p.Cys502Phe) c.1247G>T (p.Cys416Phe) c.180+193G>T c.*238G>T (n.*238G>T) c.1619G>T (p.Cys540Phe) | gnomAD v4 COSMIC |
| 22 | g.50625170C>G | CA412166744 | ARSA | c.1505G>C (p.Cys502Ser) c.1247G>C (p.Cys416Ser) c.180+193G>C c.*238G>C (n.*238G>C) c.1619G>C (p.Cys540Ser) | |
| 22 | g.50625170C>T | CA412166749 | ARSA | c.1505G>A (p.Cys502Tyr) c.1247G>A (p.Cys416Tyr) c.180+193G>A c.*238G>A (n.*238G>A) c.1619G>A (p.Cys540Tyr) | gnomAD v4 |
| 22 | g.50625171A>C | CA412166753 | ARSA | c.1504T>G (p.Cys502Gly) c.1246T>G (p.Cys416Gly) c.180+192T>G c.*237T>G (n.*237T>G) c.1618T>G (p.Cys540Gly) | |
| 22 | g.50625171A>G | CA412166754 | ARSA | c.1504T>C (p.Cys502Arg) c.1246T>C (p.Cys416Arg) c.180+192T>C c.*237T>C (n.*237T>C) c.1618T>C (p.Cys540Arg) | |
| 22 | g.50625171A>T | CA412166755 | ARSA | c.1504T>A (p.Cys502Ser) c.1246T>A (p.Cys416Ser) c.180+192T>A c.*237T>A (n.*237T>A) c.1618T>A (p.Cys540Ser) | gnomAD v4 |
| 22 | g.50625172G>A | CA515390803 | ARSA | c.1503C>T (p.Cys501=) c.1245C>T (p.Cys415=) c.180+191C>T c.*236C>T (n.*236C>T) c.1617C>T (p.Cys539=) | gnomAD v4 |
| 22 | g.50625172G>C | CA412166757 | ARSA | c.1503C>G (p.Cys501Trp) c.1245C>G (p.Cys415Trp) c.180+191C>G c.*236C>G (n.*236C>G) c.1617C>G (p.Cys539Trp) | |
| 22 | g.50625172G>T | CA412166762 | ARSA | c.1503C>A (p.Cys501Ter) c.1245C>A (p.Cys415Ter) c.180+191C>A c.*236C>A (n.*236C>A) c.1617C>A (p.Cys539Ter) | gnomAD v4 |
| 22 | g.50625173C>A | CA412166770 | ARSA | c.1502G>T (p.Cys501Phe) c.1244G>T (p.Cys415Phe) c.180+190G>T c.*235G>T (n.*235G>T) c.1616G>T (p.Cys539Phe) | gnomAD v4 |
| 22 | g.50625173C>G | CA412166774 | ARSA | c.1502G>C (p.Cys501Ser) c.1244G>C (p.Cys415Ser) c.180+190G>C c.*235G>C (n.*235G>C) c.1616G>C (p.Cys539Ser) | |
| 22 | g.50625173C>T | CA412166766 | ARSA | c.1502G>A (p.Cys501Tyr) c.1244G>A (p.Cys415Tyr) c.180+190G>A c.*235G>A (n.*235G>A) c.1616G>A (p.Cys539Tyr) | gnomAD v4 |
| 22 | g.50625174A>C | CA412166778 | ARSA | c.1501T>G (p.Cys501Gly) c.1243T>G (p.Cys415Gly) c.180+189T>G c.*234T>G (n.*234T>G) c.1615T>G (p.Cys539Gly) | |
| 22 | g.50625174A>G | CA412166782 | ARSA | c.1501T>C (p.Cys501Arg) c.1243T>C (p.Cys415Arg) c.180+189T>C c.*234T>C (n.*234T>C) c.1615T>C (p.Cys539Arg) | |
| 22 | g.50625174A>T | CA412166797 | ARSA | c.1501T>A (p.Cys501Ser) c.1243T>A (p.Cys415Ser) c.180+189T>A c.*234T>A (n.*234T>A) c.1615T>A (p.Cys539Ser) | |
| 22 | g.50625175A= | CA2410958345 | ARSA | c.1500T= (p.Ala500=) c.1242T= (p.Ala414=) c.180+188T= c.*233T= (n.*233T=) c.1614T= (p.Ala538=) | |
| 22 | g.50625175A>C | CA515390818 | ARSA | c.1500T>G (p.Ala500=) c.1242T>G (p.Ala414=) c.180+188T>G c.*233T>G (n.*233T>G) c.1614T>G (p.Ala538=) | |
| 22 | g.50625175A>G | CA10324717 | ARSA | c.1500T>C (p.Ala500=) c.1242T>C (p.Ala414=) c.180+188T>C c.*233T>C (n.*233T>C) c.1614T>C (p.Ala538=) | ClinVar dbSNP ExAC gnomAD v4 |
| 22 | g.50625175A>T | CA515390819 | ARSA | c.1500T>A (p.Ala500=) c.1242T>A (p.Ala414=) c.180+188T>A c.*233T>A (n.*233T>A) c.1614T>A (p.Ala538=) |