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.37805076G>A | CA219683 | CYBB | c.*731G>A (n.*731G>A) c.1126G>A (p.Gly376Arg) c.1222G>A (p.Gly408Arg) c.171+379076G>A (n.171+379076G>A) c.916G>A (p.Gly306Arg) | ClinVar dbSNP |
| X | g.37805076G>C | CA412977762 | CYBB | c.*731G>C (n.*731G>C) c.1126G>C (p.Gly376Arg) c.1222G>C (p.Gly408Arg) c.171+379076G>C (n.171+379076G>C) c.916G>C (p.Gly306Arg) | |
| X | g.37805076G= | CA2424683368 | CYBB | c.*731G= (n.*731G=) c.1126G= (p.Gly376=) c.1222G= (p.Gly408=) c.171+379076G= (n.171+379076G=) c.916G= (p.Gly306=) | |
| X | g.37805076G>T | CA412977763 | CYBB | c.*731G>T (n.*731G>T) c.1126G>T (p.Gly376Ter) c.1222G>T (p.Gly408Ter) c.171+379076G>T (n.171+379076G>T) c.916G>T (p.Gly306Ter) | |
| X | g.37805077G>A | CA219685 | CYBB | c.*732G>A (n.*732G>A) c.1127G>A (p.Gly376Glu) c.1223G>A (p.Gly408Glu) c.171+379077G>A (n.171+379077G>A) c.917G>A (p.Gly306Glu) | ClinVar dbSNP COSMIC |
| X | g.37805077G>C | CA10383852 | CYBB | c.*732G>C (n.*732G>C) c.1127G>C (p.Gly376Ala) c.1223G>C (p.Gly408Ala) c.171+379077G>C (n.171+379077G>C) c.917G>C (p.Gly306Ala) | ClinVar dbSNP ExAC gnomAD v2 |
| X | g.37805077G= | CA2424683369 | CYBB | c.*732G= (n.*732G=) c.1127G= (p.Gly376=) c.1223G= (p.Gly408=) c.171+379077G= (n.171+379077G=) c.917G= (p.Gly306=) | |
| X | g.37805077G>T | CA412977764 | CYBB | c.*732G>T (n.*732G>T) c.1127G>T (p.Gly376Val) c.1223G>T (p.Gly408Val) c.171+379077G>T (n.171+379077G>T) c.917G>T (p.Gly306Val) | |
| X | g.37805078A>C | CA515677623 | CYBB | c.*733A>C (n.*733A>C) c.1128A>C (p.Gly376=) c.1224A>C (p.Gly408=) c.171+379078A>C (n.171+379078A>C) c.918A>C (p.Gly306=) | |
| X | g.37805078A>G | CA515677625 | CYBB | c.*733A>G (n.*733A>G) c.1128A>G (p.Gly376=) c.1224A>G (p.Gly408=) c.171+379078A>G (n.171+379078A>G) c.918A>G (p.Gly306=) | |
| X | g.37805078A>T | CA515677627 | CYBB | c.*733A>T (n.*733A>T) c.1128A>T (p.Gly376=) c.1224A>T (p.Gly408=) c.171+379078A>T (n.171+379078A>T) c.918A>T (p.Gly306=) | |
| X | g.37805079G>A | CA412977767 | CYBB | c.*734G>A (n.*734G>A) c.1129G>A (p.Ala377Thr) c.1225G>A (p.Ala409Thr) c.171+379079G>A (n.171+379079G>A) c.919G>A (p.Ala307Thr) | |
| X | g.37805079G>C | CA412977765 | CYBB | c.*734G>C (n.*734G>C) c.1129G>C (p.Ala377Pro) c.1225G>C (p.Ala409Pro) c.171+379079G>C (n.171+379079G>C) c.919G>C (p.Ala307Pro) | |
| X | g.37805079G>T | CA412977766 | CYBB | c.*734G>T (n.*734G>T) c.1129G>T (p.Ala377Ser) c.1225G>T (p.Ala409Ser) c.171+379079G>T (n.171+379079G>T) c.919G>T (p.Ala307Ser) | |
| X | g.37805080C>A | CA412977768 | CYBB | c.*735C>A (n.*735C>A) c.1130C>A (p.Ala377Glu) c.1226C>A (p.Ala409Glu) c.171+379080C>A (n.171+379080C>A) c.920C>A (p.Ala307Glu) | ClinVar |
| X | g.37805080C>G | CA412977769 | CYBB | c.*735C>G (n.*735C>G) c.1130C>G (p.Ala377Gly) c.1226C>G (p.Ala409Gly) c.171+379080C>G (n.171+379080C>G) c.920C>G (p.Ala307Gly) | |
| X | g.37805080C>T | CA412977770 | CYBB | c.*735C>T (n.*735C>T) c.1130C>T (p.Ala377Val) c.1226C>T (p.Ala409Val) c.171+379080C>T (n.171+379080C>T) c.920C>T (p.Ala307Val) | |
| X | g.37805081A>C | CA515677641 | CYBB | c.*736A>C (n.*736A>C) c.1131A>C (p.Ala377=) c.1227A>C (p.Ala409=) c.171+379081A>C (n.171+379081A>C) c.921A>C (p.Ala307=) | gnomAD v4 |
| X | g.37805081A>G | CA515677643 | CYBB | c.*736A>G (n.*736A>G) c.1131A>G (p.Ala377=) c.1227A>G (p.Ala409=) c.171+379081A>G (n.171+379081A>G) c.921A>G (p.Ala307=) | |
| X | g.37805081A>T | CA515677645 | CYBB | c.*736A>T (n.*736A>T) c.1131A>T (p.Ala377=) c.1227A>T (p.Ala409=) c.171+379081A>T (n.171+379081A>T) c.921A>T (p.Ala307=) | |
| X | g.37805082G>A | CA412977771 | CYBB | c.*737G>A (n.*737G>A) c.1132G>A (p.Gly378Arg) c.1228G>A (p.Gly410Arg) c.171+379082G>A (n.171+379082G>A) c.922G>A (p.Gly308Arg) | |
| X | g.37805082G>C | CA412977772 | CYBB | c.*737G>C (n.*737G>C) c.1132G>C (p.Gly378Arg) c.1228G>C (p.Gly410Arg) c.171+379082G>C (n.171+379082G>C) c.922G>C (p.Gly308Arg) | |
| X | g.37805082G>T | CA412977773 | CYBB | c.*737G>T (n.*737G>T) c.1132G>T (p.Gly378Trp) c.1228G>T (p.Gly410Trp) c.171+379082G>T (n.171+379082G>T) c.922G>T (p.Gly308Trp) | |
| X | g.37805083G>A | CA412977774 | CYBB | c.*738G>A (n.*738G>A) c.1133G>A (p.Gly378Glu) c.1229G>A (p.Gly410Glu) c.171+379083G>A (n.171+379083G>A) c.923G>A (p.Gly308Glu) | |
| X | g.37805083G>C | CA412977775 | CYBB | c.*738G>C (n.*738G>C) c.1133G>C (p.Gly378Ala) c.1229G>C (p.Gly410Ala) c.171+379083G>C (n.171+379083G>C) c.923G>C (p.Gly308Ala) | |
| X | g.37805083G>T | CA412977776 | CYBB | c.*738G>T (n.*738G>T) c.1133G>T (p.Gly378Val) c.1229G>T (p.Gly410Val) c.171+379083G>T (n.171+379083G>T) c.923G>T (p.Gly308Val) | |
| X | g.37805084G>A | CA515677656 | CYBB | c.*739G>A (n.*739G>A) c.1134G>A (p.Gly378=) c.1230G>A (p.Gly410=) c.171+379084G>A (n.171+379084G>A) c.924G>A (p.Gly308=) | |
| X | g.37805084G>C | CA515677661 | CYBB | c.*739G>C (n.*739G>C) c.1134G>C (p.Gly378=) c.1230G>C (p.Gly410=) c.171+379084G>C (n.171+379084G>C) c.924G>C (p.Gly308=) | |
| X | g.37805084G>T | CA515677658 | CYBB | c.*739G>T (n.*739G>T) c.1134G>T (p.Gly378=) c.1230G>T (p.Gly410=) c.171+379084G>T (n.171+379084G>T) c.924G>T (p.Gly308=) | |
| X | g.37805085A= | CA2424683370 | CYBB | c.*740A= (n.*740A=) c.1135A= (p.Ile379=) c.1231A= (p.Ile411=) c.171+379085A= (n.171+379085A=) c.925A= (p.Ile309=) | |
| X | g.37805085A>C | CA412977778 | CYBB | c.*740A>C (n.*740A>C) c.1135A>C (p.Ile379Leu) c.1231A>C (p.Ile411Leu) c.171+379085A>C (n.171+379085A>C) c.925A>C (p.Ile309Leu) | |
| X | g.37805085A>G | CA412977777 | CYBB | c.*740A>G (n.*740A>G) c.1135A>G (p.Ile379Val) c.1231A>G (p.Ile411Val) c.171+379085A>G (n.171+379085A>G) c.925A>G (p.Ile309Val) | |
| X | g.37805085A>T | CA16609183 | CYBB | c.*740A>T (n.*740A>T) c.1135A>T (p.Ile379Phe) c.1231A>T (p.Ile411Phe) c.171+379085A>T (n.171+379085A>T) c.925A>T (p.Ile309Phe) | ClinVar dbSNP |
| X | g.37805086T>A | CA412977779 | CYBB | c.*741T>A (n.*741T>A) c.1136T>A (p.Ile379Asn) c.1232T>A (p.Ile411Asn) c.171+379086T>A (n.171+379086T>A) c.926T>A (p.Ile309Asn) | |
| X | g.37805086T>C | CA412977780 | CYBB | c.*741T>C (n.*741T>C) c.1136T>C (p.Ile379Thr) c.1232T>C (p.Ile411Thr) c.171+379086T>C (n.171+379086T>C) c.926T>C (p.Ile309Thr) | |
| X | g.37805086T>G | CA412977781 | CYBB | c.*741T>G (n.*741T>G) c.1136T>G (p.Ile379Ser) c.1232T>G (p.Ile411Ser) c.171+379086T>G (n.171+379086T>G) c.926T>G (p.Ile309Ser) | |
| X | g.37805087T>A | CA515677671 | CYBB | c.*742T>A (n.*742T>A) c.1137T>A (p.Ile379=) c.1233T>A (p.Ile411=) c.171+379087T>A (n.171+379087T>A) c.927T>A (p.Ile309=) | |
| X | g.37805087T>C | CA515677673 | CYBB | c.*742T>C (n.*742T>C) c.1137T>C (p.Ile379=) c.1233T>C (p.Ile411=) c.171+379087T>C (n.171+379087T>C) c.927T>C (p.Ile309=) | |
| X | g.37805087T>G | CA412977782 | CYBB | c.*742T>G (n.*742T>G) c.1137T>G (p.Ile379Met) c.1233T>G (p.Ile411Met) c.171+379087T>G (n.171+379087T>G) c.927T>G (p.Ile309Met) | |
| X | g.37805087T= | CA2424683371 | CYBB | c.*742T= (n.*742T=) c.1137T= (p.Ile379=) c.1233T= (p.Ile411=) c.171+379087T= (n.171+379087T=) c.927T= (p.Ile309=) | |
| X | g.37805088G>A | CA412977783 | CYBB | c.*743G>A (n.*743G>A) c.1138G>A (p.Gly380Arg) c.1234G>A (p.Gly412Arg) c.171+379088G>A (n.171+379088G>A) c.928G>A (p.Gly310Arg) | ClinVar |
| X | g.37805088G>C | CA412977784 | CYBB | c.*743G>C (n.*743G>C) c.1138G>C (p.Gly380Arg) c.1234G>C (p.Gly412Arg) c.171+379088G>C (n.171+379088G>C) c.928G>C (p.Gly310Arg) | |
| X | g.37805088G>T | CA412977785 | CYBB | c.*743G>T (n.*743G>T) c.1138G>T (p.Gly380Trp) c.1234G>T (p.Gly412Trp) c.171+379088G>T (n.171+379088G>T) c.928G>T (p.Gly310Trp) | |
| X | g.37805091dup | CA913190353 | CYBB | c.*746dup (n.*746dup) c.1141dup (p.Val381GlyfsTer18) c.1237dup (p.Val413GlyfsTer18) c.171+379091dup (n.171+379091dup) c.931dup (p.Val311GlyfsTer18) | ClinVar dbSNP |
| X | g.37805091del | CA2695233206 | CYBB | c.*746del (n.*746del) c.1141del (p.Val381SerfsTer22) c.1237del (p.Val413SerfsTer22) c.171+379091del (n.171+379091del) c.931del (p.Val311SerfsTer22) | |
| X | g.37805089G>A | CA412977786 | CYBB | c.*744G>A (n.*744G>A) c.1139G>A (p.Gly380Glu) c.1235G>A (p.Gly412Glu) c.171+379089G>A (n.171+379089G>A) c.929G>A (p.Gly310Glu) | |
| X | g.37805089G>C | CA412977787 | CYBB | c.*744G>C (n.*744G>C) c.1139G>C (p.Gly380Ala) c.1235G>C (p.Gly412Ala) c.171+379089G>C (n.171+379089G>C) c.929G>C (p.Gly310Ala) | |
| X | g.37805089G>T | CA412977788 | CYBB | c.*744G>T (n.*744G>T) c.1139G>T (p.Gly380Val) c.1235G>T (p.Gly412Val) c.171+379089G>T (n.171+379089G>T) c.929G>T (p.Gly310Val) | |
| X | g.37805090G>A | CA515677686 | CYBB | c.*745G>A (n.*745G>A) c.1140G>A (p.Gly380=) c.1236G>A (p.Gly412=) c.171+379090G>A (n.171+379090G>A) c.930G>A (p.Gly310=) | ClinVar |
| X | g.37805090G>C | CA515677688 | CYBB | c.*745G>C (n.*745G>C) c.1140G>C (p.Gly380=) c.1236G>C (p.Gly412=) c.171+379090G>C (n.171+379090G>C) c.930G>C (p.Gly310=) |