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 |
|---|---|---|---|---|---|
| X | g.48688124C>A | CA2693643954 | WAS | n.838C>A n.242C>A c.777+28C>A (n.777+28C>A) n.705C>A n.831C>A n.225C>A | gnomAD v4 |
| X | g.48688124C= | CA2428355474 | WAS | n.838C= n.242C= c.777+28C= (n.777+28C=) n.705C= n.831C= n.225C= | |
| X | g.48688124C>G | CA2693643956 | WAS | n.838C>G n.242C>G c.777+28C>G (n.777+28C>G) n.705C>G n.831C>G n.225C>G | gnomAD v4 |
| X | g.48688124C>T | CA641901818 | WAS | n.838C>T n.242C>T c.777+28C>T (n.777+28C>T) n.705C>T n.831C>T n.225C>T | dbSNP gnomAD v2 gnomAD v4 |
| X | g.48688125del | CA2693643952 | WAS | n.839del n.243del c.777+29del (n.777+29del) n.706del n.832del n.226del | gnomAD v4 |
| X | g.48688125C>T | CA2693643957 | WAS | n.839C>T n.243C>T c.777+29C>T (n.777+29C>T) n.706C>T n.832C>T n.226C>T | dbSNP gnomAD v4 |
| X | g.48688126A>G | CA2693643958 | WAS | n.840A>G n.244A>G c.777+30A>G (n.777+30A>G) n.707A>G n.833A>G n.227A>G | gnomAD v4 |
| X | g.48688128T>C | CA2693643960 | WAS | n.842T>C n.246T>C c.777+32T>C (n.777+32T>C) n.709T>C n.835T>C n.229T>C | gnomAD v4 |
| X | g.48688128T>G | CA2820813070 | WAS | n.842T>G n.246T>G c.777+32T>G (n.777+32T>G) n.709T>G n.835T>G n.229T>G | |
| X | g.48688129A= | CA2428355475 | WAS | n.843A= n.247A= c.777+33A= (n.777+33A=) n.710A= n.836A= n.230A= | |
| X | g.48688129A>C | CA2520403586 | WAS | n.843A>C n.247A>C c.777+33A>C (n.777+33A>C) n.710A>C n.836A>C n.230A>C | |
| X | g.48688129A>G | CA10403984 | WAS | n.843A>G n.247A>G c.777+33A>G (n.777+33A>G) n.710A>G n.836A>G n.230A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.48688129A>T | CA2820813072 | WAS | n.843A>T n.247A>T c.777+33A>T (n.777+33A>T) n.710A>T n.836A>T n.230A>T | |
| X | g.48688131A>C | CA2693643962 | WAS | n.845A>C n.249A>C c.777+35A>C (n.777+35A>C) n.712A>C n.838A>C n.232A>C | gnomAD v4 |
| X | g.48688132C>A | CA2693643964 | WAS | n.846C>A n.250C>A c.777+36C>A (n.777+36C>A) n.713C>A n.839C>A n.233C>A | gnomAD v4 |
| X | g.48688132C>T | CA2579600675 | WAS | n.846C>T n.250C>T c.777+36C>T (n.777+36C>T) n.713C>T n.839C>T n.233C>T | gnomAD v4 |
| X | g.48688134T>C | CA2539749892 | WAS | n.848T>C n.252T>C c.777+38T>C (n.777+38T>C) n.715T>C n.841T>C n.235T>C | |
| X | g.48688136C>A | CA2693643967 | WAS | n.850C>A n.254C>A c.777+40C>A (n.777+40C>A) n.717C>A n.843C>A n.237C>A | gnomAD v4 |
| X | g.48688136C>T | CA2693643968 | WAS | n.850C>T n.254C>T c.777+40C>T (n.777+40C>T) n.717C>T n.843C>T n.237C>T | gnomAD v4 |
| X | g.48688138C>A | CA2693643970 | WAS | n.852C>A n.256C>A c.777+42C>A (n.777+42C>A) n.845C>A n.239C>A | gnomAD v4 |
| X | g.48688138C>T | CA2693643971 | WAS | n.852C>T n.256C>T c.777+42C>T (n.777+42C>T) n.845C>T n.239C>T | gnomAD v4 |
| X | g.48688140del | CA2693643969 | WAS | n.854del n.258del c.777+44del (n.777+44del) n.847del n.241del | gnomAD v4 |
| X | g.48688139C>A | CA2693643973 | WAS | n.853C>A n.257C>A c.777+43C>A (n.777+43C>A) n.846C>A n.240C>A | gnomAD v4 |
| X | g.48688139C= | CA2428355476 | WAS | n.853C= n.257C= c.777+43C= (n.777+43C=) n.846C= n.240C= | |
| X | g.48688139C>T | CA329101846 | WAS | n.853C>T n.257C>T c.777+43C>T (n.777+43C>T) n.846C>T n.240C>T | dbSNP gnomAD v2 gnomAD v4 |
| X | g.48688140C>A | CA2509476950 | WAS | n.854C>A n.258C>A c.777+44C>A (n.777+44C>A) n.847C>A n.241C>A | gnomAD v4 |
| X | g.48688140C>T | CA2556264225 | WAS | n.854C>T n.258C>T c.777+44C>T (n.777+44C>T) n.847C>T n.241C>T | |
| X | g.48688142C>A | CA2579600676 | WAS | n.856C>A n.260C>A c.777+46C>A (n.777+46C>A) n.849C>A n.243C>A | gnomAD v4 |
| X | g.48688143C>A | CA2693643974 | WAS | n.857C>A n.261C>A c.777+47C>A (n.777+47C>A) n.850C>A n.244C>A | gnomAD v4 |
| X | g.48688143C>T | CA2693643975 | WAS | n.857C>T n.261C>T c.777+47C>T (n.777+47C>T) n.850C>T n.244C>T | gnomAD v4 |
| X | g.48688144C>A | CA2579600677 | WAS | n.858C>A n.262C>A c.777+48C>A (n.777+48C>A) n.851C>A n.245C>A | gnomAD v4 |
| X | g.48688146T>A | CA2428355478 | WAS | n.860T>A n.264T>A c.777+50T>A (n.777+50T>A) n.853T>A n.247T>A | dbSNP gnomAD v4 |
| X | g.48688146T>G | CA2820813074 | WAS | n.860T>G n.264T>G c.777+50T>G (n.777+50T>G) n.853T>G n.247T>G | |
| X | g.48688146T= | CA2428355477 | WAS | n.860T= n.264T= c.777+50T= (n.777+50T=) n.853T= n.247T= | |
| X | g.48688148C>A | CA2693643977 | WAS | n.862C>A c.777+52C>A (n.777+52C>A) n.855C>A | gnomAD v4 |
| X | g.48688148C= | CA2428355479 | WAS | n.862C= c.777+52C= (n.777+52C=) n.855C= | |
| X | g.48688148C>T | CA10403985 | WAS | n.862C>T c.777+52C>T (n.777+52C>T) n.855C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.48688150A>G | CA2693643981 | WAS | n.864A>G c.777+54A>G (n.777+54A>G) n.857A>G | gnomAD v4 |
| X | g.48688152G>A | CA2693643982 | WAS | n.866G>A c.777+56G>A (n.777+56G>A) n.859G>A | gnomAD v4 |
| X | g.48688152G>C | CA2820813075 | WAS | n.866G>C c.777+56G>C (n.777+56G>C) n.859G>C | |
| X | g.48688153A>G | CA2579600678 | WAS | n.867A>G c.777+57A>G (n.777+57A>G) n.860A>G | |
| X | g.48688154C>A | CA2579600679 | WAS | n.868C>A c.777+58C>A (n.777+58C>A) n.861C>A | |
| X | g.48688154C>T | CA2693643984 | WAS | n.868C>T c.777+58C>T (n.777+58C>T) n.861C>T | gnomAD v4 |
| X | g.48688154_48688155insAACCAAA | CA2820813077 | WAS | n.868_869insAACCAAA c.777+58_777+59insAACCAAA (n.777+58_777+59insAACCAAA) n.861_862insAACCAAA | |
| X | g.48688154_48688155insACCCAACA | CA2820813079 | WAS | n.868_869insACCCAACA c.777+58_777+59insACCCAACA (n.777+58_777+59insACCCAACA) n.861_862insACCCAACA | |
| X | g.48688156A>G | CA2693643985 | WAS | n.870A>G c.777+60A>G (n.777+60A>G) n.863A>G | gnomAD v4 |
| X | g.48688157C>A | CA2579600680 | WAS | n.871C>A c.777+61C>A (n.777+61C>A) n.864C>A | |
| X | g.48688159G>A | CA657966376 | WAS | n.873G>A c.777+63G>A (n.777+63G>A) n.866G>A | COSMIC |
| X | g.48688159G>C | CA2579600681 | WAS | n.873G>C c.777+63G>C (n.777+63G>C) n.866G>C | |
| X | g.48688159G>T | CA2693643986 | WAS | n.873G>T c.777+63G>T (n.777+63G>T) n.866G>T | gnomAD v4 |
| X | g.48688160C>A | CA2579600682 | WAS | n.874C>A c.777+64C>A (n.777+64C>A) n.867C>A | gnomAD v4 |
| X | g.48688160C>T | CA2820813080 | WAS | n.874C>T c.777+64C>T (n.777+64C>T) n.867C>T | |
| X | g.48688161T>G | CA2579600683 | WAS | n.875T>G c.777+65T>G (n.777+65T>G) n.868T>G | |
| X | g.48688164_48688165del | CA2579600684 | WAS | n.878_879del c.777+68_777+69del (n.777+68_777+69del) n.871_872del | |
| X | g.48688164G>T | CA2693643987 | WAS | n.878G>T c.777+68G>T (n.777+68G>T) n.871G>T | gnomAD v4 |
| X | g.48688166C>A | CA2579600685 | WAS | n.880C>A c.777+70C>A (n.777+70C>A) n.873C>A | |
| X | g.48688166C>T | CA2579600686 | WAS | n.880C>T c.777+70C>T (n.777+70C>T) n.873C>T | |
| X | g.48688169dup | CA2693643988 | WAS | n.883dup c.777+73dup (n.777+73dup) n.876dup | gnomAD v4 |
| X | g.48688168C= | CA2428355480 | WAS | n.882C= c.777+72C= (n.777+72C=) n.875C= | |
| X | g.48688168C>T | CA329101849 | WAS | n.882C>T c.777+72C>T (n.777+72C>T) n.875C>T | dbSNP gnomAD v4 |
| X | g.48688169C>A | CA2820813082 | WAS | n.883C>A c.777+73C>A (n.777+73C>A) n.876C>A | |
| X | g.48688170A= | CA2428355481 | WAS | n.884A= c.777+74A= (n.777+74A=) n.877A= | |
| X | g.48688170A>G | CA2579600687 | WAS | n.884A>G c.777+74A>G (n.777+74A>G) n.877A>G | gnomAD v4 |
| X | g.48688175dup | CA329101858 | WAS | n.889dup c.777+79dup (n.777+79dup) n.882dup | dbSNP |
| X | g.48688172C>T | CA2693643992 | WAS | n.886C>T c.777+76C>T (n.777+76C>T) n.879C>T | gnomAD v4 |
| X | g.48688173C>A | CA2693643993 | WAS | n.887C>A c.777+77C>A (n.777+77C>A) n.880C>A | gnomAD v4 |
| X | g.48688174C>A | CA2579600688 | WAS | n.888C>A c.777+78C>A (n.777+78C>A) n.881C>A | |
| X | g.48688174C>G | CA2544173660 | WAS | n.888C>G c.777+78C>G (n.777+78C>G) n.881C>G | |
| X | g.48688174C>T | CA2820813084 | WAS | n.888C>T c.777+78C>T (n.777+78C>T) n.881C>T | |
| X | g.48688177G>C | CA641901819 | WAS | n.891G>C c.777+81G>C (n.777+81G>C) n.884G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48688177G= | CA2428355482 | WAS | n.891G= c.777+81G= (n.777+81G=) n.884G= | |
| X | g.48688180C>A | CA2693643997 | WAS | n.894C>A c.777+84C>A (n.777+84C>A) n.887C>A | gnomAD v4 |
| X | g.48688180C>G | CA2693643998 | WAS | n.894C>G c.777+84C>G (n.777+84C>G) n.887C>G | gnomAD v4 |
| X | g.48688180C>T | CA2579600689 | WAS | n.894C>T c.777+84C>T (n.777+84C>T) n.887C>T | gnomAD v4 |
| X | g.48688181G>A | CA329101872 | WAS | n.895G>A c.777+85G>A (n.777+85G>A) n.888G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48688181G= | CA2428355483 | WAS | n.895G= c.777+85G= (n.777+85G=) n.888G= | |
| X | g.48688184C>A | CA2820813087 | WAS | n.898C>A c.777+88C>A (n.777+88C>A) n.891C>A | |
| X | g.48688184C>T | CA2693644001 | WAS | n.898C>T c.777+88C>T (n.777+88C>T) n.891C>T | gnomAD v4 |
| X | g.48688186del | CA2579600690 | WAS | n.900del c.777+90del (n.777+90del) n.893del | |
| X | g.48688185C>A | CA2693644002 | WAS | n.899C>A c.777+89C>A (n.777+89C>A) n.892C>A | gnomAD v4 |
| X | g.48688186C>G | CA2579600691 | WAS | n.900C>G c.777+90C>G (n.777+90C>G) n.893C>G | gnomAD v4 |
| X | g.48688187T>G | CA2820813088 | WAS | n.901T>G c.777+91T>G (n.777+91T>G) n.894T>G | |
| X | g.48688190C>T | CA2693644006 | WAS | n.904C>T c.777+94C>T (n.777+94C>T) n.897C>T | gnomAD v4 |
| X | g.48688191C>A | CA2579600692 | WAS | n.905C>A c.777+95C>A (n.777+95C>A) n.898C>A | |
| X | g.48688191C>T | CA2693644007 | WAS | n.905C>T c.777+95C>T (n.777+95C>T) n.898C>T | gnomAD v4 |
| X | g.48688195C>A | CA2693644008 | WAS | n.909C>A c.777+99C>A (n.777+99C>A) n.902C>A | gnomAD v4 |
| X | g.48688195C= | CA2428355484 | WAS | n.909C= c.777+99C= (n.777+99C=) n.902C= | |
| X | g.48688195C>G | CA2693644009 | WAS | n.909C>G c.777+99C>G (n.777+99C>G) n.902C>G | gnomAD v4 |
| X | g.48688195C>T | CA1132960967 | WAS | n.909C>T c.777+99C>T (n.777+99C>T) n.902C>T | dbSNP gnomAD v3 gnomAD v4 |
| X | g.48688196C>T | CA2693644010 | WAS | n.910C>T c.777+100C>T (n.777+100C>T) n.903C>T | gnomAD v4 |
| X | g.48688197C>T | CA2693644011 | WAS | n.911C>T c.777+101C>T (n.777+101C>T) n.904C>T | gnomAD v4 |
| X | g.48688197_48688199delinsCCT | CA2428355485 | WAS | n.911_913delinsCCT c.777+101_778-101delinsCCT (n.777+101_778-101delinsCCT) | |
| X | g.48688198C= | CA2428355486 | WAS | n.912C= c.778-102C= (n.778-102C=) n.905C= | |
| X | g.48688198C>G | CA2693644016 | WAS | n.912C>G c.778-102C>G (n.778-102C>G) n.905C>G | gnomAD v4 |
| X | g.48688198C>T | CA329101880 | WAS | n.912C>T c.778-102C>T (n.778-102C>T) n.905C>T | dbSNP gnomAD v4 |
| X | g.48688201_48688202del | CA875916325 | WAS | n.915_916del c.778-99_778-98del (n.778-99_778-98del) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.48688202C>A | CA2693644018 | WAS | n.916C>A c.778-98C>A (n.778-98C>A) | gnomAD v4 |
| X | g.48688205A>T | CA2693644019 | WAS | n.919A>T c.778-95A>T (n.778-95A>T) | gnomAD v4 |
| X | g.48688207C>A | CA2693644021 | WAS | n.921C>A c.778-93C>A (n.778-93C>A) | gnomAD v4 |
| X | g.48688207C>T | CA2693644022 | WAS | n.921C>T c.778-93C>T (n.778-93C>T) | gnomAD v4 |
| X | g.48688208C= | CA2428355487 | WAS | n.922C= c.778-92C= (n.778-92C=) | |
| X | g.48688208C>T | CA2428355488 | WAS | n.922C>T c.778-92C>T (n.778-92C>T) | dbSNP |
| X | g.48688209C>T | CA2693644023 | WAS | n.923C>T c.778-91C>T (n.778-91C>T) | gnomAD v4 |
| X | g.48688215G>T | CA2579600693 | WAS | n.929G>T c.778-85G>T (n.778-85G>T) | |
| X | g.48688217del | CA2738504633 | WAS | n.931del c.778-83del (n.778-83del) | dbSNP |
| X | g.48688216G= | CA2428355489 | WAS | n.930G= c.778-84G= (n.778-84G=) | |
| X | g.48688216G>T | CA2428355490 | WAS | n.930G>T c.778-84G>T (n.778-84G>T) | dbSNP gnomAD v4 |
| X | g.48688225del | CA2693644025 | WAS | n.939del c.778-75del (n.778-75del) | gnomAD v4 |
| X | g.48688224C>A | CA2579600694 | WAS | n.938C>A c.778-76C>A (n.778-76C>A) | |
| X | g.48688224C>G | CA2693644026 | WAS | n.938C>G c.778-76C>G (n.778-76C>G) | gnomAD v4 |