| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.88643538_88647000del | CA916081862 | CYBA | c.203+102_414del c.203+102_320del c.203+102_*621del c.203+102_*658del c.203+102_*327del c.203+102_431del c.204-31_534del c.203+102_*1123del c.203+102_353del c.203+102_404del n.225+102_983del | ClinVar |
| 16 | g.88646109_88646132dup | CA2241201218 | CYBA | c.356_369+10dup c.272_285+10dup c.486_499+10dup c.305_318+10dup n.888_911dup c.140_153+10dup c.345_358+10dup n.935_948+10dup c.356_379dup (p.Gly126_Ala127insGlyIleTyrLeuLeuValSerGly) | dbSNP gnomAD v4 |
| 16 | g.88646130_88646132del | CA624183985 | CYBA | c.355_357del (p.Gly119del) c.271_273del (p.Gly91del) c.485_487del (p.Arg162del) c.304_306del (p.Gly102del) n.887_889del c.139_141del c.344_346del (p.Arg115del) n.934_936del | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.88646131_88646132del | CA2576090845 | CYBA | c.354_355del (p.Ser118ArgfsTer?) c.270_271del (p.Ser90ArgfsTer?) c.354_355del (p.Ser118ArgfsTer10) c.354_355del (p.Ser118ArgfsTer20) c.484_485del (p.Arg162AlafsTer?) c.303_304del (p.Ser101ArgfsTer?) n.886_887del c.138_139del c.343_344del (p.Arg115AlafsTer?) n.933_934del | |
| 16 | g.88646131G>A | CA8228256 | CYBA | c.354C>T (p.Ser118=) c.270C>T (p.Ser90=) c.484C>T (p.Arg162Trp) c.303C>T (p.Ser101=) n.886C>T c.138C>T c.343C>T (p.Arg115Trp) n.933C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.88646131G>C | CA397062840 | CYBA | c.354C>G (p.Ser118Arg) c.270C>G (p.Ser90Arg) c.484C>G (p.Arg162Gly) c.303C>G (p.Ser101Arg) n.886C>G c.138C>G c.343C>G (p.Arg115Gly) n.933C>G | |
| 16 | g.88646131G= | CA2241201233 | CYBA | c.354C= (p.Ser118=) c.270C= (p.Ser90=) c.484C= (p.Arg162=) c.303C= (p.Ser101=) n.886C= c.138C= c.343C= (p.Arg115=) n.933C= | |
| 16 | g.88646131G>T | CA115450 | CYBA | c.354C>A (p.Ser118Arg) c.270C>A (p.Ser90Arg) c.484C>A (p.Arg162=) c.303C>A (p.Ser101Arg) n.886C>A c.138C>A c.343C>A (p.Arg115=) n.933C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.88646132C>A | CA397062849 | CYBA | c.353G>T (p.Ser118Ile) c.269G>T (p.Ser90Ile) c.483G>T (p.Glu161Asp) c.302G>T (p.Ser101Ile) n.885G>T c.137G>T c.342G>T (p.Glu114Asp) n.932G>T c.437G>T | gnomAD v4 |
| 16 | g.88646132C= | CA2241201234 | CYBA | c.353G= (p.Ser118=) c.269G= (p.Ser90=) c.483G= (p.Glu161=) c.302G= (p.Ser101=) n.885G= c.137G= c.342G= (p.Glu114=) n.932G= c.437G= | |
| 16 | g.88646132C>G | CA397062846 | CYBA | c.353G>C (p.Ser118Thr) c.269G>C (p.Ser90Thr) c.483G>C (p.Glu161Asp) c.302G>C (p.Ser101Thr) n.885G>C c.137G>C c.342G>C (p.Glu114Asp) n.932G>C c.437G>C | |
| 16 | g.88646132C>T | CA397062850 | CYBA | c.353G>A (p.Ser118Asn) c.269G>A (p.Ser90Asn) c.483G>A (p.Glu161=) c.302G>A (p.Ser101Asn) n.885G>A c.137G>A c.342G>A (p.Glu114=) n.932G>A c.437G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.88646133T>A | CA397062855 | CYBA | c.352A>T (p.Ser118Cys) c.268A>T (p.Ser90Cys) c.482A>T (p.Glu161Val) c.301A>T (p.Ser101Cys) n.884A>T c.136A>T c.341A>T (p.Glu114Val) n.931A>T c.436A>T | gnomAD v4 |
| 16 | g.88646133T>C | CA397062858 | CYBA | c.352A>G (p.Ser118Gly) c.268A>G (p.Ser90Gly) c.482A>G (p.Glu161Gly) c.301A>G (p.Ser101Gly) n.884A>G c.136A>G c.341A>G (p.Glu114Gly) n.931A>G c.436A>G | gnomAD v4 |
| 16 | g.88646133T>G | CA397062862 | CYBA | c.352A>C (p.Ser118Arg) c.268A>C (p.Ser90Arg) c.482A>C (p.Glu161Ala) c.301A>C (p.Ser101Arg) n.884A>C c.136A>C c.341A>C (p.Glu114Ala) n.931A>C c.436A>C | |
| 16 | g.88646134C>A | CA397062864 | CYBA | c.351G>T (p.Ala117=) c.267G>T (p.Ala89=) c.481G>T (p.Glu161Ter) c.300G>T (p.Ala100=) n.883G>T c.135G>T c.340G>T (p.Glu114Ter) n.930G>T c.435G>T (p.Ala145=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.88646134C= | CA2241201235 | CYBA | c.351G= (p.Ala117=) c.267G= (p.Ala89=) c.481G= (p.Glu161=) c.300G= (p.Ala100=) n.883G= c.135G= c.340G= (p.Glu114=) n.930G= c.435G= (p.Ala145=) | |
| 16 | g.88646134C>G | CA8228257 | CYBA | c.351G>C (p.Ala117=) c.267G>C (p.Ala89=) c.481G>C (p.Glu161Gln) c.300G>C (p.Ala100=) n.883G>C c.135G>C c.340G>C (p.Glu114Gln) n.930G>C c.435G>C (p.Ala145=) | dbSNP ExAC gnomAD v4 |
| 16 | g.88646134C>T | CA397062867 | CYBA | c.351G>A (p.Ala117=) c.267G>A (p.Ala89=) c.481G>A (p.Glu161Lys) c.300G>A (p.Ala100=) n.883G>A c.135G>A c.340G>A (p.Glu114Lys) n.930G>A c.435G>A (p.Ala145=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.88646135G>A | CA286352460 | CYBA | c.350C>T (p.Ala117Val) c.266C>T (p.Ala89Val) c.480C>T (p.Cys160=) c.299C>T (p.Ala100Val) n.882C>T c.134C>T c.339C>T (p.Cys113=) n.929C>T c.434C>T (p.Ala145Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.88646135G>C | CA397062871 | CYBA | c.350C>G (p.Ala117Gly) c.266C>G (p.Ala89Gly) c.480C>G (p.Cys160Trp) c.299C>G (p.Ala100Gly) n.882C>G c.134C>G c.339C>G (p.Cys113Trp) n.929C>G c.434C>G (p.Ala145Gly) | dbSNP |
| 16 | g.88646135G= | CA2241201236 | CYBA | c.350C= (p.Ala117=) c.266C= (p.Ala89=) c.480C= (p.Cys160=) c.299C= (p.Ala100=) n.882C= c.134C= c.339C= (p.Cys113=) n.929C= c.434C= (p.Ala145=) | |
| 16 | g.88646135G>T | CA397062873 | CYBA | c.350C>A (p.Ala117Glu) c.266C>A (p.Ala89Glu) c.480C>A (p.Cys160Ter) c.299C>A (p.Ala100Glu) n.882C>A c.134C>A c.339C>A (p.Cys113Ter) n.929C>A c.434C>A (p.Ala145Glu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.88646136C>A | CA397062877 | CYBA | c.349G>T (p.Ala117Ser) c.265G>T (p.Ala89Ser) c.479G>T (p.Cys160Phe) c.298G>T (p.Ala100Ser) n.881G>T c.133G>T c.338G>T (p.Cys113Phe) n.928G>T c.433G>T (p.Ala145Ser) | gnomAD v4 |
| 16 | g.88646136C>G | CA397062882 | CYBA | c.349G>C (p.Ala117Pro) c.265G>C (p.Ala89Pro) c.479G>C (p.Cys160Ser) c.298G>C (p.Ala100Pro) n.881G>C c.133G>C c.338G>C (p.Cys113Ser) n.928G>C c.433G>C (p.Ala145Pro) | |
| 16 | g.88646136C>T | CA397062884 | CYBA | c.349G>A (p.Ala117Thr) c.265G>A (p.Ala89Thr) c.479G>A (p.Cys160Tyr) c.298G>A (p.Ala100Thr) n.881G>A c.133G>A c.338G>A (p.Cys113Tyr) n.928G>A c.433G>A (p.Ala145Thr) | gnomAD v4 |
| 16 | g.88646137A= | CA2241201237 | CYBA | c.348T= (p.Ile116=) c.264T= (p.Ile88=) c.478T= (p.Cys160=) c.297T= (p.Ile99=) n.880T= c.132T= c.337T= (p.Cys113=) n.927T= c.432T= (p.Ile144=) | |
| 16 | g.88646137A>C | CA397062896 | CYBA | c.348T>G (p.Ile116Met) c.264T>G (p.Ile88Met) c.478T>G (p.Cys160Gly) c.297T>G (p.Ile99Met) n.880T>G c.132T>G c.337T>G (p.Cys113Gly) n.927T>G c.432T>G (p.Ile144Met) | |
| 16 | g.88646137A>G | CA397062892 | CYBA | c.348T>C (p.Ile116=) c.264T>C (p.Ile88=) c.478T>C (p.Cys160Arg) c.297T>C (p.Ile99=) n.880T>C c.132T>C c.337T>C (p.Cys113Arg) n.927T>C c.432T>C (p.Ile144=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.88646137A>T | CA397062889 | CYBA | c.348T>A (p.Ile116=) c.264T>A (p.Ile88=) c.478T>A (p.Cys160Ser) c.297T>A (p.Ile99=) n.880T>A c.132T>A c.337T>A (p.Cys113Ser) n.927T>A c.432T>A (p.Ile144=) | |
| 16 | g.88646138A>C | CA397062901 | CYBA | c.347T>G (p.Ile116Ser) c.263T>G (p.Ile88Ser) c.477T>G (p.His159Gln) c.296T>G (p.Ile99Ser) n.879T>G c.131T>G c.336T>G (p.His112Gln) n.926T>G c.431T>G (p.Ile144Ser) | |
| 16 | g.88646138A>G | CA397062903 | CYBA | c.347T>C (p.Ile116Thr) c.263T>C (p.Ile88Thr) c.477T>C (p.His159=) c.296T>C (p.Ile99Thr) n.879T>C c.131T>C c.336T>C (p.His112=) n.926T>C c.431T>C (p.Ile144Thr) | |
| 16 | g.88646138A>T | CA397062907 | CYBA | c.347T>A (p.Ile116Asn) c.263T>A (p.Ile88Asn) c.477T>A (p.His159Gln) c.296T>A (p.Ile99Asn) n.879T>A c.131T>A c.336T>A (p.His112Gln) n.926T>A c.431T>A (p.Ile144Asn) | |
| 16 | g.88646139T>A | CA397062910 | CYBA | c.346A>T (p.Ile116Phe) c.262A>T (p.Ile88Phe) c.476A>T (p.His159Leu) c.295A>T (p.Ile99Phe) n.878A>T c.130A>T c.335A>T (p.His112Leu) n.925A>T c.430A>T (p.Ile144Phe) | gnomAD v4 |
| 16 | g.88646139T>C | CA397062913 | CYBA | c.346A>G (p.Ile116Val) c.262A>G (p.Ile88Val) c.476A>G (p.His159Arg) c.295A>G (p.Ile99Val) n.878A>G c.130A>G c.335A>G (p.His112Arg) n.925A>G c.430A>G (p.Ile144Val) | gnomAD v4 |
| 16 | g.88646139T>G | CA397062915 | CYBA | c.346A>C (p.Ile116Leu) c.262A>C (p.Ile88Leu) c.476A>C (p.His159Pro) c.295A>C (p.Ile99Leu) n.878A>C c.130A>C c.335A>C (p.His112Pro) n.925A>C c.430A>C (p.Ile144Leu) | |
| 16 | g.88646140G>A | CA286352463 | CYBA | c.345C>T (p.Ala115=) c.261C>T (p.Ala87=) c.475C>T (p.His159Tyr) c.294C>T (p.Ala98=) n.877C>T c.129C>T c.334C>T (p.His112Tyr) n.924C>T c.429C>T (p.Ala143=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.88646140G>C | CA397062922 | CYBA | c.345C>G (p.Ala115=) c.261C>G (p.Ala87=) c.475C>G (p.His159Asp) c.294C>G (p.Ala98=) n.877C>G c.129C>G c.334C>G (p.His112Asp) n.924C>G c.429C>G (p.Ala143=) | |
| 16 | g.88646140G= | CA2241201238 | CYBA | c.345C= (p.Ala115=) c.261C= (p.Ala87=) c.475C= (p.His159=) c.294C= (p.Ala98=) n.877C= c.129C= c.334C= (p.His112=) n.924C= c.429C= (p.Ala143=) | |
| 16 | g.88646140G>T | CA397062923 | CYBA | c.345C>A (p.Ala115=) c.261C>A (p.Ala87=) c.475C>A (p.His159Asn) c.294C>A (p.Ala98=) n.877C>A c.129C>A c.334C>A (p.His112Asn) n.924C>A c.429C>A (p.Ala143=) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.88646141del | CA2499223737 | CYBA | c.345del (p.Ile116LeufsTer?) c.261del (p.Ile88LeufsTer?) c.345del (p.Ile116LeufsTer8) c.475del (p.His159IlefsTer?) c.294del (p.Ile99LeufsTer?) n.877del c.129del c.334del (p.His112IlefsTer?) n.924del c.429del (p.Ile144LeufsTer?) c.345del (p.Ile116LeufsTer9) | ClinVar dbSNP |
| 16 | g.88646141G>A | CA397062928 | CYBA | c.344C>T (p.Ala115Val) c.260C>T (p.Ala87Val) c.474C>T (p.Gly158=) c.293C>T (p.Ala98Val) n.624C>T n.876C>T c.128C>T c.333C>T (p.Gly111=) n.923C>T c.428C>T (p.Ala143Val) | gnomAD v4 |
| 16 | g.88646141G>C | CA397062930 | CYBA | c.344C>G (p.Ala115Gly) c.260C>G (p.Ala87Gly) c.474C>G (p.Gly158=) c.293C>G (p.Ala98Gly) n.624C>G n.876C>G c.128C>G c.333C>G (p.Gly111=) n.923C>G c.428C>G (p.Ala143Gly) | |
| 16 | g.88646141G= | CA2241201239 | CYBA | c.344C= (p.Ala115=) c.260C= (p.Ala87=) c.474C= (p.Gly158=) c.293C= (p.Ala98=) n.624C= n.876C= c.128C= c.333C= (p.Gly111=) n.923C= c.428C= (p.Ala143=) | |
| 16 | g.88646141G>T | CA397062938 | CYBA | c.344C>A (p.Ala115Asp) c.260C>A (p.Ala87Asp) c.474C>A (p.Gly158=) c.293C>A (p.Ala98Asp) n.624C>A n.876C>A c.128C>A c.333C>A (p.Gly111=) n.923C>A c.428C>A (p.Ala143Asp) | dbSNP gnomAD v4 |
| 16 | g.88646142C>A | CA286352466 | CYBA | c.343G>T (p.Ala115Ser) c.259G>T (p.Ala87Ser) c.473G>T (p.Gly158Val) c.292G>T (p.Ala98Ser) n.623G>T n.875G>T c.127G>T c.332G>T (p.Gly111Val) n.922G>T c.427G>T (p.Ala143Ser) | dbSNP gnomAD v4 |
| 16 | g.88646142C= | CA2241201240 | CYBA | c.343G= (p.Ala115=) c.259G= (p.Ala87=) c.473G= (p.Gly158=) c.292G= (p.Ala98=) n.623G= n.875G= c.127G= c.332G= (p.Gly111=) n.922G= c.427G= (p.Ala143=) | |
| 16 | g.88646142C>G | CA397062944 | CYBA | c.343G>C (p.Ala115Pro) c.259G>C (p.Ala87Pro) c.473G>C (p.Gly158Ala) c.292G>C (p.Ala98Pro) n.623G>C n.875G>C c.127G>C c.332G>C (p.Gly111Ala) n.922G>C c.427G>C (p.Ala143Pro) | |
| 16 | g.88646142C>T | CA397062942 | CYBA | c.343G>A (p.Ala115Thr) c.259G>A (p.Ala87Thr) c.473G>A (p.Gly158Asp) c.292G>A (p.Ala98Thr) n.623G>A n.875G>A c.127G>A c.332G>A (p.Gly111Asp) n.922G>A c.427G>A (p.Ala143Thr) | gnomAD v4 |
| 16 | g.88646143C>A | CA397062951 | CYBA | c.342G>T (p.Leu114=) c.258G>T (p.Leu86=) c.472G>T (p.Gly158Cys) c.291G>T (p.Leu97=) n.622G>T n.874G>T c.126G>T c.331G>T (p.Gly111Cys) n.921G>T c.426G>T (p.Leu142=) | gnomAD v4 |