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 |
|---|---|---|---|---|---|
| 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.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 |
| 16 | g.88646143C= | CA2241201241 | CYBA | c.342G= (p.Leu114=) c.258G= (p.Leu86=) c.472G= (p.Gly158=) c.291G= (p.Leu97=) n.622G= n.874G= c.126G= c.331G= (p.Gly111=) n.921G= c.426G= (p.Leu142=) | |
| 16 | g.88646143C>G | CA397062953 | CYBA | c.342G>C (p.Leu114=) c.258G>C (p.Leu86=) c.472G>C (p.Gly158Arg) c.291G>C (p.Leu97=) n.622G>C n.874G>C c.126G>C c.331G>C (p.Gly111Arg) n.921G>C c.426G>C (p.Leu142=) | gnomAD v4 |
| 16 | g.88646143C>T | CA397062957 | CYBA | c.342G>A (p.Leu114=) c.258G>A (p.Leu86=) c.472G>A (p.Gly158Ser) c.291G>A (p.Leu97=) n.622G>A n.874G>A c.126G>A c.331G>A (p.Gly111Ser) n.921G>A c.426G>A (p.Leu142=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.88646144A>C | CA397062961 | CYBA | c.341T>G (p.Leu114Arg) c.257T>G (p.Leu86Arg) c.471T>G (p.Pro157=) c.290T>G (p.Leu97Arg) n.621T>G n.873T>G c.125T>G c.330T>G (p.Pro110=) n.920T>G c.425T>G (p.Leu142Arg) | |
| 16 | g.88646144A>G | CA397062964 | CYBA | c.341T>C (p.Leu114Pro) c.257T>C (p.Leu86Pro) c.471T>C (p.Pro157=) c.290T>C (p.Leu97Pro) n.621T>C n.873T>C c.125T>C c.330T>C (p.Pro110=) n.920T>C c.425T>C (p.Leu142Pro) | gnomAD v4 |
| 16 | g.88646144A>T | CA397062968 | CYBA | c.341T>A (p.Leu114Gln) c.257T>A (p.Leu86Gln) c.471T>A (p.Pro157=) c.290T>A (p.Leu97Gln) n.621T>A n.873T>A c.125T>A c.330T>A (p.Pro110=) n.920T>A c.425T>A (p.Leu142Gln) | gnomAD v4 |
| 16 | g.88646145G>A | CA397062969 | CYBA | c.340C>T (p.Leu114=) c.256C>T (p.Leu86=) c.470C>T (p.Pro157Leu) c.289C>T (p.Leu97=) n.620C>T n.872C>T c.124C>T c.329C>T (p.Pro110Leu) n.919C>T c.424C>T (p.Leu142=) | gnomAD v4 |
| 16 | g.88646145G>C | CA397062970 | CYBA | c.340C>G (p.Leu114Val) c.256C>G (p.Leu86Val) c.470C>G (p.Pro157Arg) c.289C>G (p.Leu97Val) n.620C>G n.872C>G c.124C>G c.329C>G (p.Pro110Arg) n.919C>G c.424C>G (p.Leu142Val) | |
| 16 | g.88646145G>T | CA397062971 | CYBA | c.340C>A (p.Leu114Met) c.256C>A (p.Leu86Met) c.470C>A (p.Pro157His) c.289C>A (p.Leu97Met) n.620C>A n.872C>A c.124C>A c.329C>A (p.Pro110His) n.919C>A c.424C>A (p.Leu142Met) | gnomAD v4 |
| 16 | g.88646146G>A | CA397062975 | CYBA | c.339C>T (p.Cys113=) c.255C>T (p.Cys85=) c.469C>T (p.Pro157Ser) c.288C>T (p.Cys96=) n.619C>T n.871C>T c.123C>T c.328C>T (p.Pro110Ser) n.918C>T c.423C>T (p.Cys141=) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.88646146G>C | CA397062978 | CYBA | c.339C>G (p.Cys113Trp) c.255C>G (p.Cys85Trp) c.469C>G (p.Pro157Ala) c.288C>G (p.Cys96Trp) n.619C>G n.871C>G c.123C>G c.328C>G (p.Pro110Ala) n.918C>G c.423C>G (p.Cys141Trp) | gnomAD v4 |
| 16 | g.88646146G= | CA2241201242 | CYBA | c.339C= (p.Cys113=) c.255C= (p.Cys85=) c.469C= (p.Pro157=) c.288C= (p.Cys96=) n.619C= n.871C= c.123C= c.328C= (p.Pro110=) n.918C= c.423C= (p.Cys141=) | |
| 16 | g.88646146G>T | CA397062981 | CYBA | c.339C>A (p.Cys113Ter) c.255C>A (p.Cys85Ter) c.469C>A (p.Pro157Thr) c.288C>A (p.Cys96Ter) n.619C>A n.871C>A c.123C>A c.328C>A (p.Pro110Thr) n.918C>A c.423C>A (p.Cys141Ter) | gnomAD v4 |
| 16 | g.88646147C>A | CA397062988 | CYBA | c.338G>T (p.Cys113Phe) c.254G>T (p.Cys85Phe) c.468G>T (p.Leu156=) c.287G>T (p.Cys96Phe) n.618G>T n.870G>T c.122G>T c.327G>T (p.Leu109=) n.917G>T c.422G>T (p.Cys141Phe) | gnomAD v4 |
| 16 | g.88646147C= | CA2241201243 | CYBA | c.338G= (p.Cys113=) c.254G= (p.Cys85=) c.468G= (p.Leu156=) c.287G= (p.Cys96=) n.618G= n.870G= c.122G= c.327G= (p.Leu109=) n.917G= c.422G= (p.Cys141=) | |
| 16 | g.88646147C>G | CA397062990 | CYBA | c.338G>C (p.Cys113Ser) c.254G>C (p.Cys85Ser) c.468G>C (p.Leu156=) c.287G>C (p.Cys96Ser) n.618G>C n.870G>C c.122G>C c.327G>C (p.Leu109=) n.917G>C c.422G>C (p.Cys141Ser) | gnomAD v4 |
| 16 | g.88646147C>T | CA397062985 | CYBA | c.338G>A (p.Cys113Tyr) c.254G>A (p.Cys85Tyr) c.468G>A (p.Leu156=) c.287G>A (p.Cys96Tyr) n.618G>A n.870G>A c.122G>A c.327G>A (p.Leu109=) n.917G>A c.422G>A (p.Cys141Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.88646148A>C | CA397062991 | CYBA | c.337T>G (p.Cys113Gly) c.253T>G (p.Cys85Gly) c.467T>G (p.Leu156Arg) c.286T>G (p.Cys96Gly) n.617T>G n.869T>G c.121T>G c.326T>G (p.Leu109Arg) n.916T>G c.421T>G (p.Cys141Gly) | |
| 16 | g.88646148A>G | CA397062993 | CYBA | c.337T>C (p.Cys113Arg) c.253T>C (p.Cys85Arg) c.467T>C (p.Leu156Pro) c.286T>C (p.Cys96Arg) n.617T>C n.869T>C c.121T>C c.326T>C (p.Leu109Pro) n.916T>C c.421T>C (p.Cys141Arg) | gnomAD v4 |
| 16 | g.88646148A>T | CA397062996 | CYBA | c.337T>A (p.Cys113Ser) c.253T>A (p.Cys85Ser) c.467T>A (p.Leu156Gln) c.286T>A (p.Cys96Ser) n.617T>A n.869T>A c.121T>A c.326T>A (p.Leu109Gln) n.916T>A c.421T>A (p.Cys141Ser) | gnomAD v4 |
| 16 | g.88646149G>A | CA497071532 | CYBA | c.336C>T (p.Ala112=) c.252C>T (p.Ala84=) c.466C>T (p.Leu156=) c.285C>T (p.Ala95=) n.616C>T n.868C>T c.120C>T c.325C>T (p.Leu109=) n.915C>T c.420C>T (p.Ala140=) | gnomAD v4 |
| 16 | g.88646149G>C | CA397063000 | CYBA | c.336C>G (p.Ala112=) c.252C>G (p.Ala84=) c.466C>G (p.Leu156Val) c.285C>G (p.Ala95=) n.616C>G n.868C>G c.120C>G c.325C>G (p.Leu109Val) n.915C>G c.420C>G (p.Ala140=) | gnomAD v4 |
| 16 | g.88646149G= | CA2241201244 | CYBA | c.336C= (p.Ala112=) c.252C= (p.Ala84=) c.466C= (p.Leu156=) c.285C= (p.Ala95=) n.616C= n.868C= c.120C= c.325C= (p.Leu109=) n.915C= c.420C= (p.Ala140=) | |
| 16 | g.88646149G>T | CA397063004 | CYBA | c.336C>A (p.Ala112=) c.252C>A (p.Ala84=) c.466C>A (p.Leu156Met) c.285C>A (p.Ala95=) n.616C>A n.868C>A c.120C>A c.325C>A (p.Leu109Met) n.915C>A c.420C>A (p.Ala140=) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.88646150G>A | CA397063011 | CYBA | c.335C>T (p.Ala112Val) c.251C>T (p.Ala84Val) c.465C>T (p.Arg155=) c.284C>T (p.Ala95Val) n.615C>T n.867C>T c.119C>T c.324C>T (p.Arg108=) n.914C>T c.419C>T (p.Ala140Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.88646150G>C | CA397063007 | CYBA | c.335C>G (p.Ala112Gly) c.251C>G (p.Ala84Gly) c.465C>G (p.Arg155=) c.284C>G (p.Ala95Gly) n.615C>G n.867C>G c.119C>G c.324C>G (p.Arg108=) n.914C>G c.419C>G (p.Ala140Gly) | |
| 16 | g.88646150G= | CA2241201245 | CYBA | c.335C= (p.Ala112=) c.251C= (p.Ala84=) c.465C= (p.Arg155=) c.284C= (p.Ala95=) n.615C= n.867C= c.119C= c.324C= (p.Arg108=) n.914C= c.419C= (p.Ala140=) | |
| 16 | g.88646150G>T | CA397063009 | CYBA | c.335C>A (p.Ala112Asp) c.251C>A (p.Ala84Asp) c.465C>A (p.Arg155=) c.284C>A (p.Ala95Asp) n.615C>A n.867C>A c.119C>A c.324C>A (p.Arg108=) n.914C>A c.419C>A (p.Ala140Asp) | gnomAD v4 |
| 16 | g.88646151C>A | CA286352474 | CYBA | c.334G>T (p.Ala112Ser) c.250G>T (p.Ala84Ser) c.464G>T (p.Arg155Leu) c.283G>T (p.Ala95Ser) n.614G>T n.866G>T c.118G>T c.323G>T (p.Arg108Leu) n.913G>T c.418G>T (p.Ala140Ser) | dbSNP gnomAD v4 |
| 16 | g.88646151C= | CA2241201246 | CYBA | c.334G= (p.Ala112=) c.250G= (p.Ala84=) c.464G= (p.Arg155=) c.283G= (p.Ala95=) n.614G= n.866G= c.118G= c.323G= (p.Arg108=) n.913G= c.418G= (p.Ala140=) | |
| 16 | g.88646151C>G | CA8228258 | CYBA | c.334G>C (p.Ala112Pro) c.250G>C (p.Ala84Pro) c.464G>C (p.Arg155Pro) c.283G>C (p.Ala95Pro) n.614G>C n.866G>C c.118G>C c.323G>C (p.Arg108Pro) n.913G>C c.418G>C (p.Ala140Pro) | dbSNP ExAC gnomAD v2 |
| 16 | g.88646151C>T | CA397063020 | CYBA | c.334G>A (p.Ala112Thr) c.250G>A (p.Ala84Thr) c.464G>A (p.Arg155His) c.283G>A (p.Ala95Thr) n.614G>A n.866G>A c.118G>A c.323G>A (p.Arg108His) n.913G>A c.418G>A (p.Ala140Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.88646152G>A | CA286352475 | CYBA | c.333C>T (p.Thr111=) c.249C>T (p.Thr83=) c.463C>T (p.Arg155Cys) c.282C>T (p.Thr94=) n.613C>T n.865C>T c.117C>T c.322C>T (p.Arg108Cys) n.912C>T c.417C>T (p.Thr139=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.88646152G>C | CA397063032 | CYBA | c.333C>G (p.Thr111=) c.249C>G (p.Thr83=) c.463C>G (p.Arg155Gly) c.282C>G (p.Thr94=) n.613C>G n.865C>G c.117C>G c.322C>G (p.Arg108Gly) n.912C>G c.417C>G (p.Thr139=) | |
| 16 | g.88646152G= | CA2241201247 | CYBA | c.333C= (p.Thr111=) c.249C= (p.Thr83=) c.463C= (p.Arg155=) c.282C= (p.Thr94=) n.613C= n.865C= c.117C= c.322C= (p.Arg108=) n.912C= c.417C= (p.Thr139=) | |
| 16 | g.88646152G>T | CA397063035 | CYBA | c.333C>A (p.Thr111=) c.249C>A (p.Thr83=) c.463C>A (p.Arg155Ser) c.282C>A (p.Thr94=) n.613C>A n.865C>A c.117C>A c.322C>A (p.Arg108Ser) n.912C>A c.417C>A (p.Thr139=) | gnomAD v4 |
| 16 | g.88646153G>A | CA397063046 | CYBA | c.332C>T (p.Thr111Ile) c.248C>T (p.Thr83Ile) c.462C>T (p.Asp154=) c.281C>T (p.Thr94Ile) n.612C>T n.864C>T c.116C>T c.321C>T (p.Asp107=) n.911C>T c.416C>T (p.Thr139Ile) | gnomAD v4 |
| 16 | g.88646153G>C | CA397063043 | CYBA | c.332C>G (p.Thr111Ser) c.248C>G (p.Thr83Ser) c.462C>G (p.Asp154Glu) c.281C>G (p.Thr94Ser) n.612C>G n.864C>G c.116C>G c.321C>G (p.Asp107Glu) n.911C>G c.416C>G (p.Thr139Ser) | gnomAD v4 |
| 16 | g.88646153G>T | CA397063039 | CYBA | c.332C>A (p.Thr111Asn) c.248C>A (p.Thr83Asn) c.462C>A (p.Asp154Glu) c.281C>A (p.Thr94Asn) n.612C>A n.864C>A c.116C>A c.321C>A (p.Asp107Glu) n.911C>A c.416C>A (p.Thr139Asn) | gnomAD v4 |
| 16 | g.88646154T>A | CA397063049 | CYBA | c.331A>T (p.Thr111Ser) c.247A>T (p.Thr83Ser) c.461A>T (p.Asp154Val) c.280A>T (p.Thr94Ser) n.611A>T n.863A>T c.115A>T c.320A>T (p.Asp107Val) n.910A>T c.415A>T (p.Thr139Ser) | |
| 16 | g.88646154T>C | CA397063055 | CYBA | c.331A>G (p.Thr111Ala) c.247A>G (p.Thr83Ala) c.461A>G (p.Asp154Gly) c.280A>G (p.Thr94Ala) n.611A>G n.863A>G c.115A>G c.320A>G (p.Asp107Gly) n.910A>G c.415A>G (p.Thr139Ala) | gnomAD v4 |
| 16 | g.88646154T>G | CA397063051 | CYBA | c.331A>C (p.Thr111Pro) c.247A>C (p.Thr83Pro) c.461A>C (p.Asp154Ala) c.280A>C (p.Thr94Pro) n.611A>C n.863A>C c.115A>C c.320A>C (p.Asp107Ala) n.910A>C c.415A>C (p.Thr139Pro) | dbSNP |
| 16 | g.88646154T= | CA2241201248 | CYBA | c.331A= (p.Thr111=) c.247A= (p.Thr83=) c.461A= (p.Asp154=) c.280A= (p.Thr94=) n.611A= n.863A= c.115A= c.320A= (p.Asp107=) n.910A= c.415A= (p.Thr139=) | |
| 16 | g.88646155C>A | CA397063057 | CYBA | c.330G>T (p.Gly110=) c.246G>T (p.Gly82=) c.460G>T (p.Asp154Tyr) c.279G>T (p.Gly93=) n.610G>T n.862G>T c.114G>T c.319G>T (p.Asp107Tyr) n.909G>T c.414G>T (p.Gly138=) | gnomAD v4 |
| 16 | g.88646155C>G | CA397063060 | CYBA | c.330G>C (p.Gly110=) c.246G>C (p.Gly82=) c.460G>C (p.Asp154His) c.279G>C (p.Gly93=) n.610G>C n.862G>C c.114G>C c.319G>C (p.Asp107His) n.909G>C c.414G>C (p.Gly138=) | gnomAD v4 |
| 16 | g.88646155C>T | CA397063061 | CYBA | c.330G>A (p.Gly110=) c.246G>A (p.Gly82=) c.460G>A (p.Asp154Asn) c.279G>A (p.Gly93=) n.610G>A n.862G>A c.114G>A c.319G>A (p.Asp107Asn) n.909G>A c.414G>A (p.Gly138=) | gnomAD v4 |
| 16 | g.88646157del | CA2634842357 | CYBA | c.330del (p.Thr111ProfsTer?) c.246del (p.Thr83ProfsTer?) c.330del (p.Thr111ProfsTer13) c.460del (p.Asp154ThrfsTer?) c.279del (p.Thr94ProfsTer?) n.610del n.862del c.114del c.319del (p.Asp107ThrfsTer?) n.909del c.414del (p.Thr139ProfsTer?) c.330del (p.Thr111ProfsTer14) | gnomAD v4 |
| 16 | g.88646156C>A | CA397063064 | CYBA | c.329G>T (p.Gly110Val) c.245G>T (p.Gly82Val) c.459G>T (p.Trp153Cys) c.278G>T (p.Gly93Val) n.609G>T n.861G>T c.113G>T c.318G>T (p.Trp106Cys) n.908G>T c.413G>T (p.Gly138Val) | gnomAD v4 |
| 16 | g.88646156C>G | CA397063066 | CYBA | c.329G>C (p.Gly110Ala) c.245G>C (p.Gly82Ala) c.459G>C (p.Trp153Cys) c.278G>C (p.Gly93Ala) n.609G>C n.861G>C c.113G>C c.318G>C (p.Trp106Cys) n.908G>C c.413G>C (p.Gly138Ala) | gnomAD v4 |
| 16 | g.88646156C>T | CA397063068 | CYBA | c.329G>A (p.Gly110Glu) c.245G>A (p.Gly82Glu) c.459G>A (p.Trp153Ter) c.278G>A (p.Gly93Glu) n.609G>A n.861G>A c.113G>A c.318G>A (p.Trp106Ter) n.908G>A c.413G>A (p.Gly138Glu) | gnomAD v4 |
| 16 | g.88646157C>A | CA397063072 | CYBA | c.328G>T (p.Gly110Trp) c.244G>T (p.Gly82Trp) c.458G>T (p.Trp153Leu) c.277G>T (p.Gly93Trp) n.608G>T n.860G>T c.112G>T c.317G>T (p.Trp106Leu) n.907G>T c.412G>T (p.Gly138Trp) | gnomAD v4 |
| 16 | g.88646157C>G | CA397063081 | CYBA | c.328G>C (p.Gly110Arg) c.244G>C (p.Gly82Arg) c.458G>C (p.Trp153Ser) c.277G>C (p.Gly93Arg) n.608G>C n.860G>C c.112G>C c.317G>C (p.Trp106Ser) n.907G>C c.412G>C (p.Gly138Arg) | |
| 16 | g.88646157C>T | CA397063085 | CYBA | c.328G>A (p.Gly110Arg) c.244G>A (p.Gly82Arg) c.458G>A (p.Trp153Ter) c.277G>A (p.Gly93Arg) n.608G>A n.860G>A c.112G>A c.317G>A (p.Trp106Ter) n.907G>A c.412G>A (p.Gly138Arg) | |
| 16 | g.88646158A>C | CA397063087 | CYBA | c.327T>G (p.Leu109=) c.243T>G (p.Leu81=) c.457T>G (p.Trp153Gly) c.276T>G (p.Leu92=) n.607T>G n.859T>G c.111T>G c.316T>G (p.Trp106Gly) n.906T>G c.411T>G (p.Leu137=) | |
| 16 | g.88646158A>G | CA397063091 | CYBA | c.327T>C (p.Leu109=) c.243T>C (p.Leu81=) c.457T>C (p.Trp153Arg) c.276T>C (p.Leu92=) n.607T>C n.859T>C c.111T>C c.316T>C (p.Trp106Arg) n.906T>C c.411T>C (p.Leu137=) | gnomAD v4 |
| 16 | g.88646158A>T | CA397063094 | CYBA | c.327T>A (p.Leu109=) c.243T>A (p.Leu81=) c.457T>A (p.Trp153Arg) c.276T>A (p.Leu92=) n.607T>A n.859T>A c.111T>A c.316T>A (p.Trp106Arg) n.906T>A c.411T>A (p.Leu137=) | gnomAD v4 |
| 16 | g.88646159A>C | CA397063102 | CYBA | c.326T>G (p.Leu109Arg) c.242T>G (p.Leu81Arg) c.456T>G (p.Pro152=) c.275T>G (p.Leu92Arg) n.606T>G n.858T>G c.110T>G c.315T>G (p.Pro105=) n.905T>G c.410T>G (p.Leu137Arg) | |
| 16 | g.88646159A>G | CA397063097 | CYBA | c.326T>C (p.Leu109Pro) c.242T>C (p.Leu81Pro) c.456T>C (p.Pro152=) c.275T>C (p.Leu92Pro) n.606T>C n.858T>C c.110T>C c.315T>C (p.Pro105=) n.905T>C c.410T>C (p.Leu137Pro) | gnomAD v4 |
| 16 | g.88646159A>T | CA397063099 | CYBA | c.326T>A (p.Leu109His) c.242T>A (p.Leu81His) c.456T>A (p.Pro152=) c.275T>A (p.Leu92His) n.606T>A n.858T>A c.110T>A c.315T>A (p.Pro105=) n.905T>A c.410T>A (p.Leu137His) | gnomAD v4 |
| 16 | g.88646160G>A | CA397063109 | CYBA | c.325C>T (p.Leu109Phe) c.241C>T (p.Leu81Phe) c.455C>T (p.Pro152Leu) c.274C>T (p.Leu92Phe) n.605C>T n.857C>T c.109C>T c.314C>T (p.Pro105Leu) n.904C>T c.409C>T (p.Leu137Phe) | |
| 16 | g.88646160G>C | CA397063112 | CYBA | c.325C>G (p.Leu109Val) c.241C>G (p.Leu81Val) c.455C>G (p.Pro152Arg) c.274C>G (p.Leu92Val) n.605C>G n.857C>G c.109C>G c.314C>G (p.Pro105Arg) n.904C>G c.409C>G (p.Leu137Val) | |
| 16 | g.88646160G>T | CA397063116 | CYBA | c.325C>A (p.Leu109Ile) c.241C>A (p.Leu81Ile) c.455C>A (p.Pro152His) c.274C>A (p.Leu92Ile) n.605C>A n.857C>A c.109C>A c.314C>A (p.Pro105His) n.904C>A c.409C>A (p.Leu137Ile) | gnomAD v4 |
| 16 | g.88646161del | CA2634842367 | CYBA | c.325del (p.Thr111ProfsTer?) c.241del (p.Thr83ProfsTer?) c.325del (p.Thr111ProfsTer13) c.455del (p.Pro152LeufsTer?) c.274del (p.Thr94ProfsTer?) n.605del n.857del c.109del c.314del (p.Pro105LeufsTer?) n.904del c.409del (p.Thr139ProfsTer?) c.325del (p.Thr111ProfsTer14) | gnomAD v4 |
| 16 | g.88646161G>A | CA397063120 | CYBA | c.324C>T (p.Ile108=) c.240C>T (p.Ile80=) c.454C>T (p.Pro152Ser) c.273C>T (p.Ile91=) n.604C>T n.856C>T c.108C>T c.313C>T (p.Pro105Ser) n.903C>T c.408C>T (p.Ile136=) | ClinVar gnomAD v4 |
| 16 | g.88646161G>C | CA397063124 | CYBA | c.324C>G (p.Ile108Met) c.240C>G (p.Ile80Met) c.454C>G (p.Pro152Ala) c.273C>G (p.Ile91Met) n.604C>G n.856C>G c.108C>G c.313C>G (p.Pro105Ala) n.903C>G c.408C>G (p.Ile136Met) | |
| 16 | g.88646161G>T | CA397063127 | CYBA | c.324C>A (p.Ile108=) c.240C>A (p.Ile80=) c.454C>A (p.Pro152Thr) c.273C>A (p.Ile91=) n.604C>A n.856C>A c.108C>A c.313C>A (p.Pro105Thr) n.903C>A c.408C>A (p.Ile136=) | gnomAD v4 |
| 16 | g.88646162A= | CA2241201249 | CYBA | c.323T= (p.Ile108=) c.239T= (p.Ile80=) c.453T= (p.His151=) c.272T= (p.Ile91=) n.603T= n.855T= c.107T= c.312T= (p.His104=) n.902T= c.407T= (p.Ile136=) | |
| 16 | g.88646162A>C | CA397063128 | CYBA | c.323T>G (p.Ile108Ser) c.239T>G (p.Ile80Ser) c.453T>G (p.His151Gln) c.272T>G (p.Ile91Ser) n.603T>G n.855T>G c.107T>G c.312T>G (p.His104Gln) n.902T>G c.407T>G (p.Ile136Ser) | |
| 16 | g.88646162A>G | CA397063131 | CYBA | c.323T>C (p.Ile108Thr) c.239T>C (p.Ile80Thr) c.453T>C (p.His151=) c.272T>C (p.Ile91Thr) n.603T>C n.855T>C c.107T>C c.312T>C (p.His104=) n.902T>C c.407T>C (p.Ile136Thr) | gnomAD v4 |
| 16 | g.88646162A>T | CA286352479 | CYBA | c.323T>A (p.Ile108Asn) c.239T>A (p.Ile80Asn) c.453T>A (p.His151Gln) c.272T>A (p.Ile91Asn) n.603T>A n.855T>A c.107T>A c.312T>A (p.His104Gln) n.902T>A c.407T>A (p.Ile136Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.88646163T>A | CA397063133 | CYBA | c.322A>T (p.Ile108Phe) c.238A>T (p.Ile80Phe) c.452A>T (p.His151Leu) c.271A>T (p.Ile91Phe) n.602A>T n.854A>T c.106A>T c.311A>T (p.His104Leu) n.901A>T c.406A>T (p.Ile136Phe) | |
| 16 | g.88646163T>C | CA397063136 | CYBA | c.322A>G (p.Ile108Val) c.238A>G (p.Ile80Val) c.452A>G (p.His151Arg) c.271A>G (p.Ile91Val) n.602A>G n.854A>G c.106A>G c.311A>G (p.His104Arg) n.901A>G c.406A>G (p.Ile136Val) | |
| 16 | g.88646163T>G | CA397063139 | CYBA | c.322A>C (p.Ile108Leu) c.238A>C (p.Ile80Leu) c.452A>C (p.His151Pro) c.271A>C (p.Ile91Leu) n.602A>C n.854A>C c.106A>C c.311A>C (p.His104Pro) n.901A>C c.406A>C (p.Ile136Leu) | |
| 16 | g.88646164G>A | CA397063142 | CYBA | c.321C>T (p.Thr107=) c.237C>T (p.Thr79=) c.451C>T (p.His151Tyr) c.270C>T (p.Thr90=) n.601C>T n.853C>T c.105C>T c.310C>T (p.His104Tyr) n.900C>T c.405C>T (p.Thr135=) | gnomAD v4 |
| 16 | g.88646164G>C | CA397063141 | CYBA | c.321C>G (p.Thr107=) c.237C>G (p.Thr79=) c.451C>G (p.His151Asp) c.270C>G (p.Thr90=) n.601C>G n.853C>G c.105C>G c.310C>G (p.His104Asp) n.900C>G c.405C>G (p.Thr135=) | gnomAD v4 |
| 16 | g.88646164G>T | CA397063140 | CYBA | c.321C>A (p.Thr107=) c.237C>A (p.Thr79=) c.451C>A (p.His151Asn) c.270C>A (p.Thr90=) n.601C>A n.853C>A c.105C>A c.310C>A (p.His104Asn) n.900C>A c.405C>A (p.Thr135=) | gnomAD v4 |
| 16 | g.88646165G>A | CA397063154 | CYBA | c.320C>T (p.Thr107Ile) c.236C>T (p.Thr79Ile) c.450C>T (p.His150=) c.269C>T (p.Thr90Ile) n.600C>T n.852C>T c.104C>T c.309C>T (p.His103=) n.899C>T c.404C>T (p.Thr135Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.88646165G>C | CA397063148 | CYBA | c.320C>G (p.Thr107Ser) c.236C>G (p.Thr79Ser) c.450C>G (p.His150Gln) c.269C>G (p.Thr90Ser) n.600C>G n.852C>G c.104C>G c.309C>G (p.His103Gln) n.899C>G c.404C>G (p.Thr135Ser) | |
| 16 | g.88646165G= | CA2241201250 | CYBA | c.320C= (p.Thr107=) c.236C= (p.Thr79=) c.450C= (p.His150=) c.269C= (p.Thr90=) n.600C= n.852C= c.104C= c.309C= (p.His103=) n.899C= c.404C= (p.Thr135=) | |
| 16 | g.88646165G>T | CA397063150 | CYBA | c.320C>A (p.Thr107Asn) c.236C>A (p.Thr79Asn) c.450C>A (p.His150Gln) c.269C>A (p.Thr90Asn) n.600C>A n.852C>A c.104C>A c.309C>A (p.His103Gln) n.899C>A c.404C>A (p.Thr135Asn) | gnomAD v4 |
| 16 | g.88646166T>A | CA397063160 | CYBA | c.319A>T (p.Thr107Ser) c.235A>T (p.Thr79Ser) c.449A>T (p.His150Leu) c.268A>T (p.Thr90Ser) n.599A>T n.851A>T c.103A>T c.308A>T (p.His103Leu) n.898A>T c.403A>T (p.Thr135Ser) | gnomAD v4 |
| 16 | g.88646166T>C | CA8228259 | CYBA | c.319A>G (p.Thr107Ala) c.235A>G (p.Thr79Ala) c.449A>G (p.His150Arg) c.268A>G (p.Thr90Ala) n.599A>G n.851A>G c.103A>G c.308A>G (p.His103Arg) n.898A>G c.403A>G (p.Thr135Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.88646166T>G | CA397063164 | CYBA | c.319A>C (p.Thr107Pro) c.235A>C (p.Thr79Pro) c.449A>C (p.His150Pro) c.268A>C (p.Thr90Pro) n.599A>C n.851A>C c.103A>C c.308A>C (p.His103Pro) n.898A>C c.403A>C (p.Thr135Pro) | dbSNP |
| 16 | g.88646166T= | CA2241201251 | CYBA | c.319A= (p.Thr107=) c.235A= (p.Thr79=) c.449A= (p.His150=) c.268A= (p.Thr90=) n.599A= n.851A= c.103A= c.308A= (p.His103=) n.898A= c.403A= (p.Thr135=) | |
| 16 | g.88646167G>A | CA397063178 | CYBA | c.318C>T (p.Ala106=) c.234C>T (p.Ala78=) c.448C>T (p.His150Tyr) c.267C>T (p.Ala89=) n.598C>T n.850C>T c.102C>T c.307C>T (p.His103Tyr) n.897C>T c.402C>T (p.Ala134=) | gnomAD v4 |
| 16 | g.88646167G>C | CA397063172 | CYBA | c.318C>G (p.Ala106=) c.234C>G (p.Ala78=) c.448C>G (p.His150Asp) c.267C>G (p.Ala89=) n.598C>G n.850C>G c.102C>G c.307C>G (p.His103Asp) n.897C>G c.402C>G (p.Ala134=) | |
| 16 | g.88646167G>T | CA397063169 | CYBA | c.318C>A (p.Ala106=) c.234C>A (p.Ala78=) c.448C>A (p.His150Asn) c.267C>A (p.Ala89=) n.598C>A n.850C>A c.102C>A c.307C>A (p.His103Asn) n.897C>A c.402C>A (p.Ala134=) | gnomAD v4 COSMIC |
| 16 | g.88646168G>A | CA397063180 | CYBA | c.317C>T (p.Ala106Val) c.233C>T (p.Ala78Val) c.447C>T (p.Gly149=) c.266C>T (p.Ala89Val) n.597C>T n.849C>T c.101C>T c.306C>T (p.Gly102=) n.896C>T c.401C>T (p.Ala134Val) | gnomAD v4 |
| 16 | g.88646168G>C | CA397063182 | CYBA | c.317C>G (p.Ala106Gly) c.233C>G (p.Ala78Gly) c.447C>G (p.Gly149=) c.266C>G (p.Ala89Gly) n.597C>G n.849C>G c.101C>G c.306C>G (p.Gly102=) n.896C>G c.401C>G (p.Ala134Gly) | gnomAD v4 |
| 16 | g.88646168G= | CA2241201252 | CYBA | c.317C= (p.Ala106=) c.233C= (p.Ala78=) c.447C= (p.Gly149=) c.266C= (p.Ala89=) n.597C= n.849C= c.101C= c.306C= (p.Gly102=) n.896C= c.401C= (p.Ala134=) | |
| 16 | g.88646168G>T | CA286352485 | CYBA | c.317C>A (p.Ala106Asp) c.233C>A (p.Ala78Asp) c.447C>A (p.Gly149=) c.266C>A (p.Ala89Asp) n.597C>A n.849C>A c.101C>A c.306C>A (p.Gly102=) n.896C>A c.401C>A (p.Ala134Asp) | dbSNP gnomAD v4 |
| 16 | g.88646169C>A | CA397063188 | CYBA | c.316G>T (p.Ala106Ser) c.232G>T (p.Ala78Ser) c.446G>T (p.Gly149Val) c.265G>T (p.Ala89Ser) n.596G>T n.848G>T c.100G>T c.305G>T (p.Gly102Val) n.895G>T c.400G>T (p.Ala134Ser) | gnomAD v4 |
| 16 | g.88646169C>G | CA397063193 | CYBA | c.316G>C (p.Ala106Pro) c.232G>C (p.Ala78Pro) c.446G>C (p.Gly149Ala) c.265G>C (p.Ala89Pro) n.596G>C n.848G>C c.100G>C c.305G>C (p.Gly102Ala) n.895G>C c.400G>C (p.Ala134Pro) | |
| 16 | g.88646169C>T | CA397063195 | CYBA | c.316G>A (p.Ala106Thr) c.232G>A (p.Ala78Thr) c.446G>A (p.Gly149Asp) c.265G>A (p.Ala89Thr) n.596G>A n.848G>A c.100G>A c.305G>A (p.Gly102Asp) n.895G>A c.400G>A (p.Ala134Thr) | gnomAD v4 |
| 16 | g.88646170C>A | CA397063198 | CYBA | c.315G>T (p.Leu105=) c.231G>T (p.Leu77=) c.445G>T (p.Gly149Cys) c.264G>T (p.Leu88=) n.595G>T n.847G>T c.99G>T c.304G>T (p.Gly102Cys) n.894G>T c.399G>T (p.Leu133=) | gnomAD v4 |
| 16 | g.88646170C>G | CA397063203 | CYBA | c.315G>C (p.Leu105=) c.231G>C (p.Leu77=) c.445G>C (p.Gly149Arg) c.264G>C (p.Leu88=) n.595G>C n.847G>C c.99G>C c.304G>C (p.Gly102Arg) n.894G>C c.399G>C (p.Leu133=) | gnomAD v4 |
| 16 | g.88646170C>T | CA397063201 | CYBA | c.315G>A (p.Leu105=) c.231G>A (p.Leu77=) c.445G>A (p.Gly149Ser) c.264G>A (p.Leu88=) n.595G>A n.847G>A c.99G>A c.304G>A (p.Gly102Ser) n.894G>A c.399G>A (p.Leu133=) | gnomAD v4 |
| 16 | g.88646171A>C | CA397063205 | CYBA | c.314T>G (p.Leu105Arg) c.230T>G (p.Leu77Arg) c.444T>G (p.Ala148=) c.263T>G (p.Leu88Arg) n.594T>G n.846T>G c.98T>G c.303T>G (p.Ala101=) n.893T>G c.398T>G (p.Leu133Arg) | ClinVar dbSNP |
| 16 | g.88646171A>G | CA397063206 | CYBA | c.314T>C (p.Leu105Pro) c.230T>C (p.Leu77Pro) c.444T>C (p.Ala148=) c.263T>C (p.Leu88Pro) n.594T>C n.846T>C c.98T>C c.303T>C (p.Ala101=) n.893T>C c.398T>C (p.Leu133Pro) | gnomAD v4 |
| 16 | g.88646171A>T | CA397063207 | CYBA | c.314T>A (p.Leu105Gln) c.230T>A (p.Leu77Gln) c.444T>A (p.Ala148=) c.263T>A (p.Leu88Gln) n.594T>A n.846T>A c.98T>A c.303T>A (p.Ala101=) n.893T>A c.398T>A (p.Leu133Gln) | gnomAD v4 |
| 16 | g.88646172G>A | CA397063210 | CYBA | c.313C>T (p.Leu105=) c.229C>T (p.Leu77=) c.443C>T (p.Ala148Val) c.262C>T (p.Leu88=) n.593C>T n.845C>T c.97C>T c.302C>T (p.Ala101Val) n.892C>T c.397C>T (p.Leu133=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.88646172G>C | CA397063211 | CYBA | c.313C>G (p.Leu105Val) c.229C>G (p.Leu77Val) c.443C>G (p.Ala148Gly) c.262C>G (p.Leu88Val) n.593C>G n.845C>G c.97C>G c.302C>G (p.Ala101Gly) n.892C>G c.397C>G (p.Leu133Val) | |
| 16 | g.88646172G= | CA2241201253 | CYBA | c.313C= (p.Leu105=) c.229C= (p.Leu77=) c.443C= (p.Ala148=) c.262C= (p.Leu88=) n.593C= n.845C= c.97C= c.302C= (p.Ala101=) n.892C= c.397C= (p.Leu133=) | |
| 16 | g.88646172G>T | CA286352490 | CYBA | c.313C>A (p.Leu105Met) c.229C>A (p.Leu77Met) c.443C>A (p.Ala148Asp) c.262C>A (p.Leu88Met) n.593C>A n.845C>A c.97C>A c.302C>A (p.Ala101Asp) n.892C>A c.397C>A (p.Leu133Met) | dbSNP gnomAD v4 |
| 16 | g.88646173C>A | CA397063215 | CYBA | c.312G>T (p.Leu104=) c.228G>T (p.Leu76=) c.442G>T (p.Ala148Ser) c.261G>T (p.Leu87=) n.592G>T n.844G>T c.96G>T c.301G>T (p.Ala101Ser) n.891G>T c.396G>T (p.Leu132=) | gnomAD v4 |
| 16 | g.88646173C>G | CA397063218 | CYBA | c.312G>C (p.Leu104=) c.228G>C (p.Leu76=) c.442G>C (p.Ala148Pro) c.261G>C (p.Leu87=) n.592G>C n.844G>C c.96G>C c.301G>C (p.Ala101Pro) n.891G>C c.396G>C (p.Leu132=) | |
| 16 | g.88646173C>T | CA397063224 | CYBA | c.312G>A (p.Leu104=) c.228G>A (p.Leu76=) c.442G>A (p.Ala148Thr) c.261G>A (p.Leu87=) n.592G>A n.844G>A c.96G>A c.301G>A (p.Ala101Thr) n.891G>A c.396G>A (p.Leu132=) | gnomAD v4 |
| 16 | g.88646174A>C | CA397063228 | CYBA | c.311T>G (p.Leu104Arg) c.227T>G (p.Leu76Arg) c.441T>G (p.Pro147=) c.260T>G (p.Leu87Arg) n.591T>G n.843T>G c.95T>G c.300T>G (p.Pro100=) n.890T>G c.395T>G (p.Leu132Arg) | |
| 16 | g.88646174A>G | CA397063231 | CYBA | c.311T>C (p.Leu104Pro) c.227T>C (p.Leu76Pro) c.441T>C (p.Pro147=) c.260T>C (p.Leu87Pro) n.591T>C n.843T>C c.95T>C c.300T>C (p.Pro100=) n.890T>C c.395T>C (p.Leu132Pro) | gnomAD v4 |
| 16 | g.88646174A>T | CA397063234 | CYBA | c.311T>A (p.Leu104Gln) c.227T>A (p.Leu76Gln) c.441T>A (p.Pro147=) c.260T>A (p.Leu87Gln) n.591T>A n.843T>A c.95T>A c.300T>A (p.Pro100=) n.890T>A c.395T>A (p.Leu132Gln) | |
| 16 | g.88646174_88646210delinsAGGAAGCCGGCGGGCACCGAGAGCCTGGGGGACAGCG | CA2241201254 | CYBA | c.288-13_311delinsCGCTGTCCCCCAGGCTCTCGGTGCCCGCCGGCTTCCT c.204-13_227delinsCGCTGTCCCCCAGGCTCTCGGTGCCCGCCGGCTTCCT c.418-13_441delinsCGCTGTCCCCCAGGCTCTCGGTGCCCGCCGGCTTCCT c.237-13_260delinsCGCTGTCCCCCAGGCTCTCGGTGCCCGCCGGCTTCCT n.568-13_591delinsCGCTGTCCCCCAGGCTCTCGGTGCCCGCCGGCTTCCT n.807_843delinsCGCTGTCCCCCAGGCTCTCGGTGCCCGCCGGCTTCCT c.72-13_95delinsCGCTGTCCCCCAGGCTCTCGGTGCCCGCCGGCTTCCT c.277-13_300delinsCGCTGTCCCCCAGGCTCTCGGTGCCCGCCGGCTTCCT n.854_890delinsCGCTGTCCCCCAGGCTCTCGGTGCCCGCCGGCTTCCT c.372-13_395delinsCGCTGTCCCCCAGGCTCTCGGTGCCCGCCGGCTTCCT | |
| 16 | g.88646175G>A | CA397063238 | CYBA | c.310C>T (p.Leu104=) c.226C>T (p.Leu76=) c.440C>T (p.Pro147Leu) c.259C>T (p.Leu87=) n.590C>T n.842C>T c.94C>T c.299C>T (p.Pro100Leu) n.889C>T c.394C>T (p.Leu132=) | gnomAD v4 |
| 16 | g.88646175G>C | CA397063239 | CYBA | c.310C>G (p.Leu104Val) c.226C>G (p.Leu76Val) c.440C>G (p.Pro147Arg) c.259C>G (p.Leu87Val) n.590C>G n.842C>G c.94C>G c.299C>G (p.Pro100Arg) n.889C>G c.394C>G (p.Leu132Val) | |
| 16 | g.88646175G= | CA2241201255 | CYBA | c.310C= (p.Leu104=) c.226C= (p.Leu76=) c.440C= (p.Pro147=) c.259C= (p.Leu87=) n.590C= n.842C= c.94C= c.299C= (p.Pro100=) n.889C= c.394C= (p.Leu132=) | |
| 16 | g.88646175G>T | CA286352507 | CYBA | c.310C>A (p.Leu104Met) c.226C>A (p.Leu76Met) c.440C>A (p.Pro147His) c.259C>A (p.Leu87Met) n.590C>A n.842C>A c.94C>A c.299C>A (p.Pro100His) n.889C>A c.394C>A (p.Leu132Met) | dbSNP gnomAD v4 |
| 16 | g.88646177_88646212del | CA1139664863 | CYBA | c.288-13_310del c.204-13_226del c.418-13_440del c.237-13_259del n.568-13_590del n.807_842del c.72-13_94del c.277-13_299del n.854_889del c.372-13_394del | ClinVar dbSNP |
| 16 | g.88646176G>A | CA397063243 | CYBA | c.309C>T (p.Phe103=) c.225C>T (p.Phe75=) c.439C>T (p.Pro147Ser) c.258C>T (p.Phe86=) n.589C>T n.841C>T c.93C>T c.298C>T (p.Pro100Ser) n.888C>T c.393C>T (p.Phe131=) | gnomAD v4 |
| 16 | g.88646176G>C | CA397063246 | CYBA | c.309C>G (p.Phe103Leu) c.225C>G (p.Phe75Leu) c.439C>G (p.Pro147Ala) c.258C>G (p.Phe86Leu) n.589C>G n.841C>G c.93C>G c.298C>G (p.Pro100Ala) n.888C>G c.393C>G (p.Phe131Leu) | |
| 16 | g.88646176G>T | CA397063244 | CYBA | c.309C>A (p.Phe103Leu) c.225C>A (p.Phe75Leu) c.439C>A (p.Pro147Thr) c.258C>A (p.Phe86Leu) n.589C>A n.841C>A c.93C>A c.298C>A (p.Pro100Thr) n.888C>A c.393C>A (p.Phe131Leu) | gnomAD v4 |
| 16 | g.88646177A= | CA2241201256 | CYBA | c.308T= (p.Phe103=) c.224T= (p.Phe75=) c.438T= (p.Leu146=) c.257T= (p.Phe86=) n.588T= n.840T= c.92T= c.297T= (p.Leu99=) n.887T= c.392T= (p.Phe131=) | |
| 16 | g.88646177A>C | CA397063249 | CYBA | c.308T>G (p.Phe103Cys) c.224T>G (p.Phe75Cys) c.438T>G (p.Leu146=) c.257T>G (p.Phe86Cys) n.588T>G n.840T>G c.92T>G c.297T>G (p.Leu99=) n.887T>G c.392T>G (p.Phe131Cys) | |
| 16 | g.88646177A>G | CA8228260 | CYBA | c.308T>C (p.Phe103Ser) c.224T>C (p.Phe75Ser) c.438T>C (p.Leu146=) c.257T>C (p.Phe86Ser) n.588T>C n.840T>C c.92T>C c.297T>C (p.Leu99=) n.887T>C c.392T>C (p.Phe131Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.88646177A>T | CA397063253 | CYBA | c.308T>A (p.Phe103Tyr) c.224T>A (p.Phe75Tyr) c.438T>A (p.Leu146=) c.257T>A (p.Phe86Tyr) n.588T>A n.840T>A c.92T>A c.297T>A (p.Leu99=) n.887T>A c.392T>A (p.Phe131Tyr) | |
| 16 | g.88646178A>C | CA397063264 | CYBA | c.307T>G (p.Phe103Val) c.223T>G (p.Phe75Val) c.437T>G (p.Leu146Arg) c.256T>G (p.Phe86Val) n.587T>G n.839T>G c.91T>G c.296T>G (p.Leu99Arg) n.886T>G c.391T>G (p.Phe131Val) | |
| 16 | g.88646178A>G | CA397063268 | CYBA | c.307T>C (p.Phe103Leu) c.223T>C (p.Phe75Leu) c.437T>C (p.Leu146Pro) c.256T>C (p.Phe86Leu) n.587T>C n.839T>C c.91T>C c.296T>C (p.Leu99Pro) n.886T>C c.391T>C (p.Phe131Leu) | gnomAD v4 |
| 16 | g.88646178A>T | CA397063269 | CYBA | c.307T>A (p.Phe103Ile) c.223T>A (p.Phe75Ile) c.437T>A (p.Leu146His) c.256T>A (p.Phe86Ile) n.587T>A n.839T>A c.91T>A c.296T>A (p.Leu99His) n.886T>A c.391T>A (p.Phe131Ile) | |
| 16 | g.88646179G>A | CA397063277 | CYBA | c.306C>T (p.Gly102=) c.222C>T (p.Gly74=) c.436C>T (p.Leu146Phe) c.255C>T (p.Gly85=) n.586C>T n.838C>T c.90C>T c.295C>T (p.Leu99Phe) n.885C>T c.390C>T (p.Gly130=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.88646179G>C | CA397063281 | CYBA | c.306C>G (p.Gly102=) c.222C>G (p.Gly74=) c.436C>G (p.Leu146Val) c.255C>G (p.Gly85=) n.586C>G n.838C>G c.90C>G c.295C>G (p.Leu99Val) n.885C>G c.390C>G (p.Gly130=) | gnomAD v4 |
| 16 | g.88646179G= | CA2241201257 | CYBA | c.306C= (p.Gly102=) c.222C= (p.Gly74=) c.436C= (p.Leu146=) c.255C= (p.Gly85=) n.586C= n.838C= c.90C= c.295C= (p.Leu99=) n.885C= c.390C= (p.Gly130=) | |
| 16 | g.88646179G>T | CA286352513 | CYBA | c.306C>A (p.Gly102=) c.222C>A (p.Gly74=) c.436C>A (p.Leu146Ile) c.255C>A (p.Gly85=) n.586C>A n.838C>A c.90C>A c.295C>A (p.Leu99Ile) n.885C>A c.390C>A (p.Gly130=) | dbSNP gnomAD v4 |
| 16 | g.88646180C>A | CA397063284 | CYBA | c.305G>T (p.Gly102Val) c.221G>T (p.Gly74Val) c.435G>T (p.Arg145=) c.254G>T (p.Gly85Val) n.585G>T n.837G>T c.89G>T c.294G>T (p.Arg98=) n.884G>T c.389G>T (p.Gly130Val) | gnomAD v4 |
| 16 | g.88646180C>G | CA397063286 | CYBA | c.305G>C (p.Gly102Ala) c.221G>C (p.Gly74Ala) c.435G>C (p.Arg145=) c.254G>C (p.Gly85Ala) n.585G>C n.837G>C c.89G>C c.294G>C (p.Arg98=) n.884G>C c.389G>C (p.Gly130Ala) | |
| 16 | g.88646180C>T | CA397063288 | CYBA | c.305G>A (p.Gly102Asp) c.221G>A (p.Gly74Asp) c.435G>A (p.Arg145=) c.254G>A (p.Gly85Asp) n.585G>A n.837G>A c.89G>A c.294G>A (p.Arg98=) n.884G>A c.389G>A (p.Gly130Asp) | gnomAD v4 |
| 16 | g.88646181C>A | CA397063297 | CYBA | c.304G>T (p.Gly102Cys) c.220G>T (p.Gly74Cys) c.434G>T (p.Arg145Leu) c.253G>T (p.Gly85Cys) n.584G>T n.836G>T c.88G>T c.293G>T (p.Arg98Leu) n.883G>T c.388G>T (p.Gly130Cys) | gnomAD v4 |
| 16 | g.88646181C= | CA2241201258 | CYBA | c.304G= (p.Gly102=) c.220G= (p.Gly74=) c.434G= (p.Arg145=) c.253G= (p.Gly85=) n.584G= n.836G= c.88G= c.293G= (p.Arg98=) n.883G= c.388G= (p.Gly130=) | |
| 16 | g.88646181C>G | CA397063291 | CYBA | c.304G>C (p.Gly102Arg) c.220G>C (p.Gly74Arg) c.434G>C (p.Arg145Pro) c.253G>C (p.Gly85Arg) n.584G>C n.836G>C c.88G>C c.293G>C (p.Arg98Pro) n.883G>C c.388G>C (p.Gly130Arg) | |
| 16 | g.88646181C>T | CA397063293 | CYBA | c.304G>A (p.Gly102Ser) c.220G>A (p.Gly74Ser) c.434G>A (p.Arg145Gln) c.253G>A (p.Gly85Ser) n.584G>A n.836G>A c.88G>A c.293G>A (p.Arg98Gln) n.883G>A c.388G>A (p.Gly130Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.88646182G>A | CA8228261 | CYBA | c.303C>T (p.Ala101=) c.219C>T (p.Ala73=) c.433C>T (p.Arg145Trp) c.252C>T (p.Ala84=) n.583C>T n.835C>T c.87C>T c.292C>T (p.Arg98Trp) n.882C>T c.387C>T (p.Ala129=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.88646182G>C | CA397063302 | CYBA | c.303C>G (p.Ala101=) c.219C>G (p.Ala73=) c.433C>G (p.Arg145Gly) c.252C>G (p.Ala84=) n.583C>G n.835C>G c.87C>G c.292C>G (p.Arg98Gly) n.882C>G c.387C>G (p.Ala129=) | ClinVar gnomAD v4 |
| 16 | g.88646182G= | CA2241201259 | CYBA | c.303C= (p.Ala101=) c.219C= (p.Ala73=) c.433C= (p.Arg145=) c.252C= (p.Ala84=) n.583C= n.835C= c.87C= c.292C= (p.Arg98=) n.882C= c.387C= (p.Ala129=) | |
| 16 | g.88646182G>T | CA497071551 | CYBA | c.303C>A (p.Ala101=) c.219C>A (p.Ala73=) c.433C>A (p.Arg145=) c.252C>A (p.Ala84=) n.583C>A n.835C>A c.87C>A c.292C>A (p.Arg98=) n.882C>A c.387C>A (p.Ala129=) | gnomAD v4 |
| 16 | g.88646183G>A | CA397063303 | CYBA | c.302C>T (p.Ala101Val) c.218C>T (p.Ala73Val) c.432C>T (p.Arg144=) c.251C>T (p.Ala84Val) n.582C>T n.834C>T c.86C>T c.291C>T (p.Arg97=) n.881C>T c.386C>T (p.Ala129Val) | gnomAD v4 |
| 16 | g.88646183G>C | CA397063304 | CYBA | c.302C>G (p.Ala101Gly) c.218C>G (p.Ala73Gly) c.432C>G (p.Arg144=) c.251C>G (p.Ala84Gly) n.582C>G n.834C>G c.86C>G c.291C>G (p.Arg97=) n.881C>G c.386C>G (p.Ala129Gly) | |
| 16 | g.88646183G>T | CA397063306 | CYBA | c.302C>A (p.Ala101Asp) c.218C>A (p.Ala73Asp) c.432C>A (p.Arg144=) c.251C>A (p.Ala84Asp) n.582C>A n.834C>A c.86C>A c.291C>A (p.Arg97=) n.881C>A c.386C>A (p.Ala129Asp) | gnomAD v4 |
| 16 | g.88646184C>A | CA397063308 | CYBA | c.301G>T (p.Ala101Ser) c.217G>T (p.Ala73Ser) c.431G>T (p.Arg144Leu) c.250G>T (p.Ala84Ser) n.581G>T n.833G>T c.85G>T c.290G>T (p.Arg97Leu) n.880G>T c.385G>T (p.Ala129Ser) | gnomAD v4 |
| 16 | g.88646184C= | CA2241201260 | CYBA | c.301G= (p.Ala101=) c.217G= (p.Ala73=) c.431G= (p.Arg144=) c.250G= (p.Ala84=) n.581G= n.833G= c.85G= c.290G= (p.Arg97=) n.880G= c.385G= (p.Ala129=) | |
| 16 | g.88646184C>G | CA397063311 | CYBA | c.301G>C (p.Ala101Pro) c.217G>C (p.Ala73Pro) c.431G>C (p.Arg144Pro) c.250G>C (p.Ala84Pro) n.581G>C n.833G>C c.85G>C c.290G>C (p.Arg97Pro) n.880G>C c.385G>C (p.Ala129Pro) | gnomAD v4 |
| 16 | g.88646184C>T | CA8228262 | CYBA | c.301G>A (p.Ala101Thr) c.217G>A (p.Ala73Thr) c.431G>A (p.Arg144His) c.250G>A (p.Ala84Thr) n.581G>A n.833G>A c.85G>A c.290G>A (p.Arg97His) n.880G>A c.385G>A (p.Ala129Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.88646186_88646192del | CA2522627356 | CYBA | c.295_301del (p.Val99ProfsTer?) c.211_217del (p.Val71ProfsTer?) c.295_301del (p.Val99ProfsTer23) c.425_431del (p.Gly142AlafsTer?) c.244_250del (p.Val82ProfsTer?) n.575_581del n.827_833del c.79_85del c.284_290del (p.Gly95AlafsTer?) n.874_880del c.379_385del (p.Val127ProfsTer?) c.295_301del (p.Val99ProfsTer24) | ClinVar |
| 16 | g.88646184_88646200delinsCGGGCACCGAGAGCCTG | CA2241201261 | CYBA | c.288-3_301delinsCAGGCTCTCGGTGCCCG c.204-3_217delinsCAGGCTCTCGGTGCCCG c.418-3_431delinsCAGGCTCTCGGTGCCCG c.237-3_250delinsCAGGCTCTCGGTGCCCG n.568-3_581delinsCAGGCTCTCGGTGCCCG n.817_833delinsCAGGCTCTCGGTGCCCG c.72-3_85delinsCAGGCTCTCGGTGCCCG c.277-3_290delinsCAGGCTCTCGGTGCCCG n.864_880delinsCAGGCTCTCGGTGCCCG c.372-3_385delinsCAGGCTCTCGGTGCCCG | |
| 16 | g.88646185G>A | CA8228263 | CYBA | c.300C>T (p.Pro100=) c.216C>T (p.Pro72=) c.430C>T (p.Arg144Cys) c.249C>T (p.Pro83=) n.580C>T n.832C>T c.84C>T c.289C>T (p.Arg97Cys) n.879C>T c.384C>T (p.Pro128=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.88646185G>C | CA397063319 | CYBA | c.300C>G (p.Pro100=) c.216C>G (p.Pro72=) c.430C>G (p.Arg144Gly) c.249C>G (p.Pro83=) n.580C>G n.832C>G c.84C>G c.289C>G (p.Arg97Gly) n.879C>G c.384C>G (p.Pro128=) | |
| 16 | g.88646185G= | CA2241201262 | CYBA | c.300C= (p.Pro100=) c.216C= (p.Pro72=) c.430C= (p.Arg144=) c.249C= (p.Pro83=) n.580C= n.832C= c.84C= c.289C= (p.Arg97=) n.879C= c.384C= (p.Pro128=) | |
| 16 | g.88646185G>T | CA397063320 | CYBA | c.300C>A (p.Pro100=) c.216C>A (p.Pro72=) c.430C>A (p.Arg144Ser) c.249C>A (p.Pro83=) n.580C>A n.832C>A c.84C>A c.289C>A (p.Arg97Ser) n.879C>A c.384C>A (p.Pro128=) | gnomAD v4 |
| 16 | g.88646187del | CA2634842425 | CYBA | c.300del (p.Ala101ProfsTer?) c.216del (p.Ala73ProfsTer?) c.300del (p.Ala101ProfsTer23) c.430del (p.Arg144AlafsTer?) c.249del (p.Ala84ProfsTer?) n.580del n.832del c.84del c.289del (p.Arg97AlafsTer?) n.879del c.384del (p.Ala129ProfsTer?) c.300del (p.Ala101ProfsTer24) | gnomAD v4 |
| 16 | g.88646188_88646203del | CA624184024 | CYBA | c.288-3_300del c.204-3_216del c.418-3_430del c.237-3_249del n.568-3_580del n.817_832del c.72-3_84del c.277-3_289del n.864_879del c.372-3_384del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.88646186G>A | CA397063326 | CYBA | c.299C>T (p.Pro100Leu) c.215C>T (p.Pro72Leu) c.429C>T (p.Ala143=) c.248C>T (p.Pro83Leu) n.579C>T n.831C>T c.83C>T c.288C>T (p.Ala96=) n.878C>T c.383C>T (p.Pro128Leu) | gnomAD v4 |
| 16 | g.88646186G>C | CA397063324 | CYBA | c.299C>G (p.Pro100Arg) c.215C>G (p.Pro72Arg) c.429C>G (p.Ala143=) c.248C>G (p.Pro83Arg) n.579C>G n.831C>G c.83C>G c.288C>G (p.Ala96=) n.878C>G c.383C>G (p.Pro128Arg) | |
| 16 | g.88646186G>T | CA397063323 | CYBA | c.299C>A (p.Pro100His) c.215C>A (p.Pro72His) c.429C>A (p.Ala143=) c.248C>A (p.Pro83His) n.579C>A n.831C>A c.83C>A c.288C>A (p.Ala96=) n.878C>A c.383C>A (p.Pro128His) | gnomAD v4 |
| 16 | g.88646187G>A | CA286352517 | CYBA | c.298C>T (p.Pro100Ser) c.214C>T (p.Pro72Ser) c.428C>T (p.Ala143Val) c.247C>T (p.Pro83Ser) n.578C>T n.830C>T c.82C>T c.287C>T (p.Ala96Val) n.877C>T c.382C>T (p.Pro128Ser) | dbSNP gnomAD v4 |
| 16 | g.88646187G>C | CA397063329 | CYBA | c.298C>G (p.Pro100Ala) c.214C>G (p.Pro72Ala) c.428C>G (p.Ala143Gly) c.247C>G (p.Pro83Ala) n.578C>G n.830C>G c.82C>G c.287C>G (p.Ala96Gly) n.877C>G c.382C>G (p.Pro128Ala) | |
| 16 | g.88646187G= | CA2241201263 | CYBA | c.298C= (p.Pro100=) c.214C= (p.Pro72=) c.428C= (p.Ala143=) c.247C= (p.Pro83=) n.578C= n.830C= c.82C= c.287C= (p.Ala96=) n.877C= c.382C= (p.Pro128=) | |
| 16 | g.88646187G>T | CA397063331 | CYBA | c.298C>A (p.Pro100Thr) c.214C>A (p.Pro72Thr) c.428C>A (p.Ala143Asp) c.247C>A (p.Pro83Thr) n.578C>A n.830C>A c.82C>A c.287C>A (p.Ala96Asp) n.877C>A c.382C>A (p.Pro128Thr) | gnomAD v4 |
| 16 | g.88646188C>A | CA397063334 | CYBA | c.297G>T (p.Val99=) c.213G>T (p.Val71=) c.427G>T (p.Ala143Ser) c.246G>T (p.Val82=) n.577G>T n.829G>T c.81G>T c.286G>T (p.Ala96Ser) n.876G>T c.381G>T (p.Val127=) | gnomAD v4 |
| 16 | g.88646188C= | CA2241201264 | CYBA | c.297G= (p.Val99=) c.213G= (p.Val71=) c.427G= (p.Ala143=) c.246G= (p.Val82=) n.577G= n.829G= c.81G= c.286G= (p.Ala96=) n.876G= c.381G= (p.Val127=) | |
| 16 | g.88646188C>G | CA397063337 | CYBA | c.297G>C (p.Val99=) c.213G>C (p.Val71=) c.427G>C (p.Ala143Pro) c.246G>C (p.Val82=) n.577G>C n.829G>C c.81G>C c.286G>C (p.Ala96Pro) n.876G>C c.381G>C (p.Val127=) | |
| 16 | g.88646188C>T | CA8228264 | CYBA | c.297G>A (p.Val99=) c.213G>A (p.Val71=) c.427G>A (p.Ala143Thr) c.246G>A (p.Val82=) n.577G>A n.829G>A c.81G>A c.286G>A (p.Ala96Thr) n.876G>A c.381G>A (p.Val127=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.88646189A>C | CA397063342 | CYBA | c.296T>G (p.Val99Gly) c.212T>G (p.Val71Gly) c.426T>G (p.Gly142=) c.245T>G (p.Val82Gly) n.576T>G n.828T>G c.80T>G c.285T>G (p.Gly95=) n.875T>G c.380T>G (p.Val127Gly) | |
| 16 | g.88646189A>G | CA397063344 | CYBA | c.296T>C (p.Val99Ala) c.212T>C (p.Val71Ala) c.426T>C (p.Gly142=) c.245T>C (p.Val82Ala) n.576T>C n.828T>C c.80T>C c.285T>C (p.Gly95=) n.875T>C c.380T>C (p.Val127Ala) | |
| 16 | g.88646189A>T | CA397063349 | CYBA | c.296T>A (p.Val99Glu) c.212T>A (p.Val71Glu) c.426T>A (p.Gly142=) c.245T>A (p.Val82Glu) n.576T>A n.828T>A c.80T>A c.285T>A (p.Gly95=) n.875T>A c.380T>A (p.Val127Glu) | gnomAD v4 |
| 16 | g.88646189_88646190delinsAC | CA2241201265 | CYBA | c.295_296delinsGT (p.Val99=) c.211_212delinsGT (p.Val71=) c.425_426delinsGT (p.Gly142=) c.244_245delinsGT (p.Val82=) n.575_576delinsGT n.827_828delinsGT c.79_80delinsGT c.284_285delinsGT (p.Gly95=) n.874_875delinsGT c.379_380delinsGT (p.Val127=) | |
| 16 | g.88646190C>A | CA397063351 | CYBA | c.295G>T (p.Val99Leu) c.211G>T (p.Val71Leu) c.425G>T (p.Gly142Val) c.244G>T (p.Val82Leu) n.575G>T n.827G>T c.79G>T c.284G>T (p.Gly95Val) n.874G>T c.379G>T (p.Val127Leu) | gnomAD v4 |
| 16 | g.88646190C= | CA2241201266 | CYBA | c.295G= (p.Val99=) c.211G= (p.Val71=) c.425G= (p.Gly142=) c.244G= (p.Val82=) n.575G= n.827G= c.79G= c.284G= (p.Gly95=) n.874G= c.379G= (p.Val127=) | |
| 16 | g.88646190C>G | CA8228265 | CYBA | c.295G>C (p.Val99Leu) c.211G>C (p.Val71Leu) c.425G>C (p.Gly142Ala) c.244G>C (p.Val82Leu) n.575G>C n.827G>C c.79G>C c.284G>C (p.Gly95Ala) n.874G>C c.379G>C (p.Val127Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.88646190C>T | CA397063355 | CYBA | c.295G>A (p.Val99Met) c.211G>A (p.Val71Met) c.425G>A (p.Gly142Asp) c.244G>A (p.Val82Met) n.575G>A n.827G>A c.79G>A c.284G>A (p.Gly95Asp) n.874G>A c.379G>A (p.Val127Met) | dbSNP gnomAD v4 |
| 16 | g.88646191del | CA1139664864 | CYBA | c.295del (p.Val99CysfsTer?) c.211del (p.Val71CysfsTer?) c.295del (p.Val99CysfsTer25) c.425del (p.Gly142ValfsTer?) c.244del (p.Val82CysfsTer?) n.575del n.827del c.79del c.284del (p.Gly95ValfsTer?) n.874del c.379del (p.Val127CysfsTer?) c.295del (p.Val99CysfsTer26) | ClinVar dbSNP |
| 16 | g.88646191C>A | CA397063362 | CYBA | c.294G>T (p.Ser98=) c.210G>T (p.Ser70=) c.424G>T (p.Gly142Cys) c.243G>T (p.Ser81=) n.574G>T n.826G>T c.78G>T c.283G>T (p.Gly95Cys) n.873G>T c.378G>T (p.Ser126=) | gnomAD v4 |
| 16 | g.88646191C= | CA2241201267 | CYBA | c.294G= (p.Ser98=) c.210G= (p.Ser70=) c.424G= (p.Gly142=) c.243G= (p.Ser81=) n.574G= n.826G= c.78G= c.283G= (p.Gly95=) n.873G= c.378G= (p.Ser126=) | |
| 16 | g.88646191C>G | CA397063361 | CYBA | c.294G>C (p.Ser98=) c.210G>C (p.Ser70=) c.424G>C (p.Gly142Arg) c.243G>C (p.Ser81=) n.574G>C n.826G>C c.78G>C c.283G>C (p.Gly95Arg) n.873G>C c.378G>C (p.Ser126=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.88646191C>T | CA8228266 | CYBA | c.294G>A (p.Ser98=) c.210G>A (p.Ser70=) c.424G>A (p.Gly142Ser) c.243G>A (p.Ser81=) n.574G>A n.826G>A c.78G>A c.283G>A (p.Gly95Ser) n.873G>A c.378G>A (p.Ser126=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.88646192del | CA2634842431 | CYBA | c.293del (p.Ser98TrpfsTer?) c.209del (p.Ser70TrpfsTer?) c.293del (p.Ser98TrpfsTer26) c.423del (p.Gly142ValfsTer?) c.242del (p.Ser81TrpfsTer?) n.573del n.825del c.77del c.282del (p.Gly95ValfsTer?) n.872del c.377del (p.Ser126TrpfsTer?) c.293del (p.Ser98TrpfsTer27) | gnomAD v4 |
| 16 | g.88646192G>A | CA8228267 | CYBA | c.293C>T (p.Ser98Leu) c.209C>T (p.Ser70Leu) c.423C>T (p.Leu141=) c.242C>T (p.Ser81Leu) n.573C>T n.825C>T c.77C>T c.282C>T (p.Leu94=) n.872C>T c.377C>T (p.Ser126Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.88646192G>C | CA397063367 | CYBA | c.293C>G (p.Ser98Trp) c.209C>G (p.Ser70Trp) c.423C>G (p.Leu141=) c.242C>G (p.Ser81Trp) n.573C>G n.825C>G c.77C>G c.282C>G (p.Leu94=) n.872C>G c.377C>G (p.Ser126Trp) | gnomAD v4 |
| 16 | g.88646192G= | CA2241201268 | CYBA | c.293C= (p.Ser98=) c.209C= (p.Ser70=) c.423C= (p.Leu141=) c.242C= (p.Ser81=) n.573C= n.825C= c.77C= c.282C= (p.Leu94=) n.872C= c.377C= (p.Ser126=) | |
| 16 | g.88646192G>T | CA286352527 | CYBA | c.293C>A (p.Ser98Ter) c.209C>A (p.Ser70Ter) c.423C>A (p.Leu141=) c.242C>A (p.Ser81Ter) n.573C>A n.825C>A c.77C>A c.282C>A (p.Leu94=) n.872C>A c.377C>A (p.Ser126Ter) | dbSNP gnomAD v4 |
| 16 | g.88646193A>C | CA397063373 | CYBA | c.292T>G (p.Ser98Ala) c.208T>G (p.Ser70Ala) c.422T>G (p.Leu141Arg) c.241T>G (p.Ser81Ala) n.572T>G n.824T>G c.76T>G c.281T>G (p.Leu94Arg) n.871T>G c.376T>G (p.Ser126Ala) | |
| 16 | g.88646193A>G | CA397063375 | CYBA | c.292T>C (p.Ser98Pro) c.208T>C (p.Ser70Pro) c.422T>C (p.Leu141Pro) c.241T>C (p.Ser81Pro) n.572T>C n.824T>C c.76T>C c.281T>C (p.Leu94Pro) n.871T>C c.376T>C (p.Ser126Pro) | gnomAD v4 |
| 16 | g.88646193A>T | CA397063380 | CYBA | c.292T>A (p.Ser98Thr) c.208T>A (p.Ser70Thr) c.422T>A (p.Leu141His) c.241T>A (p.Ser81Thr) n.572T>A n.824T>A c.76T>A c.281T>A (p.Leu94His) n.871T>A c.376T>A (p.Ser126Thr) | gnomAD v4 |
| 16 | g.88646194G>A | CA8228269 | CYBA | c.291C>T (p.Leu97=) c.207C>T (p.Leu69=) c.421C>T (p.Leu141Phe) c.240C>T (p.Leu80=) n.571C>T n.823C>T c.75C>T c.280C>T (p.Leu94Phe) n.870C>T c.375C>T (p.Leu125=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.88646194G>C | CA8228268 | CYBA | c.291C>G (p.Leu97=) c.207C>G (p.Leu69=) c.421C>G (p.Leu141Val) c.240C>G (p.Leu80=) n.571C>G n.823C>G c.75C>G c.280C>G (p.Leu94Val) n.870C>G c.375C>G (p.Leu125=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.88646194G= | CA2241201269 | CYBA | c.291C= (p.Leu97=) c.207C= (p.Leu69=) c.421C= (p.Leu141=) c.240C= (p.Leu80=) n.571C= n.823C= c.75C= c.280C= (p.Leu94=) n.870C= c.375C= (p.Leu125=) | |
| 16 | g.88646194G>T | CA397063388 | CYBA | c.291C>A (p.Leu97=) c.207C>A (p.Leu69=) c.421C>A (p.Leu141Ile) c.240C>A (p.Leu80=) n.571C>A n.823C>A c.75C>A c.280C>A (p.Leu94Ile) n.870C>A c.375C>A (p.Leu125=) | gnomAD v4 |
| 16 | g.88646195A>C | CA397063391 | CYBA | c.290T>G (p.Leu97Arg) c.206T>G (p.Leu69Arg) c.420T>G (p.Ala140=) c.239T>G (p.Leu80Arg) n.570T>G n.822T>G c.74T>G c.279T>G (p.Ala93=) n.869T>G c.374T>G (p.Leu125Arg) | |
| 16 | g.88646195A>G | CA397063395 | CYBA | c.290T>C (p.Leu97Pro) c.206T>C (p.Leu69Pro) c.420T>C (p.Ala140=) c.239T>C (p.Leu80Pro) n.570T>C n.822T>C c.74T>C c.279T>C (p.Ala93=) n.869T>C c.374T>C (p.Leu125Pro) | gnomAD v4 |
| 16 | g.88646195A>T | CA397063400 | CYBA | c.290T>A (p.Leu97His) c.206T>A (p.Leu69His) c.420T>A (p.Ala140=) c.239T>A (p.Leu80His) n.570T>A n.822T>A c.74T>A c.279T>A (p.Ala93=) n.869T>A c.374T>A (p.Leu125His) | |
| 16 | g.88646196G>A | CA397063403 | CYBA | c.289C>T (p.Leu97Phe) c.205C>T (p.Leu69Phe) c.419C>T (p.Ala140Val) c.238C>T (p.Leu80Phe) n.569C>T n.821C>T c.73C>T c.278C>T (p.Ala93Val) n.868C>T c.373C>T (p.Leu125Phe) | gnomAD v4 |
| 16 | g.88646196G>C | CA397063409 | CYBA | c.289C>G (p.Leu97Val) c.205C>G (p.Leu69Val) c.419C>G (p.Ala140Gly) c.238C>G (p.Leu80Val) n.569C>G n.821C>G c.73C>G c.278C>G (p.Ala93Gly) n.868C>G c.373C>G (p.Leu125Val) | |
| 16 | g.88646196G>T | CA397063407 | CYBA | c.289C>A (p.Leu97Ile) c.205C>A (p.Leu69Ile) c.419C>A (p.Ala140Asp) c.238C>A (p.Leu80Ile) n.569C>A n.821C>A c.73C>A c.278C>A (p.Ala93Asp) n.868C>A c.373C>A (p.Leu125Ile) | gnomAD v4 |
| 16 | g.88646197C>A | CA397063412 | CYBA | c.288G>T (p.Leu96=) c.204G>T (p.Trp68Cys) c.418G>T (p.Ala140Ser) c.237G>T (p.Leu79=) n.568G>T n.820G>T c.72G>T c.277G>T (p.Ala93Ser) n.867G>T c.372G>T (p.Gly124=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.88646197C= | CA2241201270 | CYBA | c.288G= (p.Leu96=) c.204G= (p.Trp68=) c.418G= (p.Ala140=) c.237G= (p.Leu79=) n.568G= n.820G= c.72G= c.277G= (p.Ala93=) n.867G= c.372G= (p.Gly124=) | |
| 16 | g.88646197C>G | CA397063422 | CYBA | c.288G>C (p.Leu96=) c.204G>C (p.Trp68Cys) c.418G>C (p.Ala140Pro) c.237G>C (p.Leu79=) n.568G>C n.820G>C c.72G>C c.277G>C (p.Ala93Pro) n.867G>C c.372G>C (p.Gly124=) | |
| 16 | g.88646197C>T | CA8228270 | CYBA | c.288G>A (p.Leu96=) c.204G>A (p.Trp68Ter) c.418G>A (p.Ala140Thr) c.237G>A (p.Leu79=) n.568G>A n.820G>A c.72G>A c.277G>A (p.Ala93Thr) n.867G>A c.372G>A (p.Gly124=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.88646198C>A | CA286352559 | CYBA | c.288-1G>T (n.288-1G>T) c.204-1G>T (n.204-1G>T) c.418-1G>T (n.418-1G>T) c.237-1G>T (n.237-1G>T) n.568-1G>T n.819G>T c.72-1G>T c.277-1G>T (n.277-1G>T) n.866G>T c.372-1G>T (n.372-1G>T) | ClinVar dbSNP gnomAD v4 |
| 16 | g.88646198C= | CA2241201271 | CYBA | c.288-1G= (n.288-1G=) c.204-1G= (n.204-1G=) c.418-1G= (n.418-1G=) c.237-1G= (n.237-1G=) n.568-1G= n.819G= c.72-1G= c.277-1G= (n.277-1G=) n.866G= c.372-1G= (n.372-1G=) | |
| 16 | g.88646198C>G | CA286352567 | CYBA | c.288-1G>C (n.288-1G>C) c.204-1G>C (n.204-1G>C) c.418-1G>C (n.418-1G>C) c.237-1G>C (n.237-1G>C) n.568-1G>C n.819G>C c.72-1G>C c.277-1G>C (n.277-1G>C) n.866G>C c.372-1G>C (n.372-1G>C) | dbSNP |
| 16 | g.88646198C>T | CA397063431 | CYBA | c.288-1G>A (n.288-1G>A) c.204-1G>A (n.204-1G>A) c.418-1G>A (n.418-1G>A) c.237-1G>A (n.237-1G>A) n.568-1G>A n.819G>A c.72-1G>A c.277-1G>A (n.277-1G>A) n.866G>A c.372-1G>A (n.372-1G>A) | ClinVar gnomAD v4 |
| 16 | g.88646199T>A | CA286352568 | CYBA | c.288-2A>T (n.288-2A>T) c.204-2A>T (n.204-2A>T) c.418-2A>T (n.418-2A>T) c.237-2A>T (n.237-2A>T) n.568-2A>T n.818A>T c.72-2A>T c.277-2A>T (n.277-2A>T) n.865A>T c.372-2A>T (n.372-2A>T) | dbSNP gnomAD v4 |
| 16 | g.88646199T>C | CA397063442 | CYBA | c.288-2A>G (n.288-2A>G) c.204-2A>G (n.204-2A>G) c.418-2A>G (n.418-2A>G) c.237-2A>G (n.237-2A>G) n.568-2A>G n.818A>G c.72-2A>G c.277-2A>G (n.277-2A>G) n.865A>G c.372-2A>G (n.372-2A>G) | gnomAD v4 |
| 16 | g.88646199T>G | CA286352569 | CYBA | c.288-2A>C (n.288-2A>C) c.204-2A>C (n.204-2A>C) c.418-2A>C (n.418-2A>C) c.237-2A>C (n.237-2A>C) n.568-2A>C n.818A>C c.72-2A>C c.277-2A>C (n.277-2A>C) n.865A>C c.372-2A>C (n.372-2A>C) | dbSNP gnomAD v4 |
| 16 | g.88646199T= | CA2241201273 | CYBA | c.288-2A= (n.288-2A=) c.204-2A= (n.204-2A=) c.418-2A= (n.418-2A=) c.237-2A= (n.237-2A=) n.568-2A= n.818A= c.72-2A= c.277-2A= (n.277-2A=) n.865A= c.372-2A= (n.372-2A=) | |
| 16 | g.88646199_88646200delinsTG | CA2241201272 | CYBA | c.288-3_288-2delinsCA (n.288-3_288-2delinsCA) c.204-3_204-2delinsCA (n.204-3_204-2delinsCA) c.418-3_418-2delinsCA (n.418-3_418-2delinsCA) c.237-3_237-2delinsCA (n.237-3_237-2delinsCA) n.568-3_568-2delinsCA n.817_818delinsCA c.72-3_72-2delinsCA c.277-3_277-2delinsCA (n.277-3_277-2delinsCA) n.864_865delinsCA c.372-3_372-2delinsCA (n.372-3_372-2delinsCA) | |
| 16 | g.88646200G>A | CA2634842438 | CYBA | c.288-3C>T (n.288-3C>T) c.204-3C>T (n.204-3C>T) c.418-3C>T (n.418-3C>T) c.237-3C>T (n.237-3C>T) n.568-3C>T n.817C>T c.72-3C>T c.277-3C>T (n.277-3C>T) n.864C>T c.372-3C>T (n.372-3C>T) | gnomAD v4 |
| 16 | g.88646200G>T | CA497071557 | CYBA | c.288-3C>A (n.288-3C>A) c.204-3C>A (n.204-3C>A) c.418-3C>A (n.418-3C>A) c.237-3C>A (n.237-3C>A) n.568-3C>A n.817C>A c.72-3C>A c.277-3C>A (n.277-3C>A) n.864C>A c.372-3C>A (n.372-3C>A) | gnomAD v4 COSMIC |
| 16 | g.88646204del | CA8228271 | CYBA | c.288-3del (n.288-3del) c.204-3del (n.204-3del) c.418-3del (n.418-3del) c.237-3del (n.237-3del) n.568-3del n.817del c.72-3del c.277-3del (n.277-3del) n.864del c.372-3del (n.372-3del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.88646201G>T | CA2634842439 | CYBA | c.288-4C>A (n.288-4C>A) c.204-4C>A (n.204-4C>A) c.418-4C>A (n.418-4C>A) c.237-4C>A (n.237-4C>A) n.568-4C>A n.816C>A c.72-4C>A c.277-4C>A (n.277-4C>A) n.863C>A c.372-4C>A (n.372-4C>A) | gnomAD v4 |
| 16 | g.88646202G>A | CA2634842440 | CYBA | c.288-5C>T (n.288-5C>T) c.204-5C>T (n.204-5C>T) c.418-5C>T (n.418-5C>T) c.237-5C>T (n.237-5C>T) n.568-5C>T n.815C>T c.72-5C>T c.277-5C>T (n.277-5C>T) n.862C>T c.372-5C>T (n.372-5C>T) | gnomAD v4 |
| 16 | g.88646202G>T | CA2634842441 | CYBA | c.288-5C>A (n.288-5C>A) c.204-5C>A (n.204-5C>A) c.418-5C>A (n.418-5C>A) c.237-5C>A (n.237-5C>A) n.568-5C>A n.815C>A c.72-5C>A c.277-5C>A (n.277-5C>A) n.862C>A c.372-5C>A (n.372-5C>A) | gnomAD v4 |
| 16 | g.88646203G>A | CA2634842442 | CYBA | c.288-6C>T (n.288-6C>T) c.204-6C>T (n.204-6C>T) c.418-6C>T (n.418-6C>T) c.237-6C>T (n.237-6C>T) n.568-6C>T n.814C>T c.72-6C>T c.277-6C>T (n.277-6C>T) n.861C>T c.372-6C>T (n.372-6C>T) | gnomAD v4 |
| 16 | g.88646203G>T | CA2634842443 | CYBA | c.288-6C>A (n.288-6C>A) c.204-6C>A (n.204-6C>A) c.418-6C>A (n.418-6C>A) c.237-6C>A (n.237-6C>A) n.568-6C>A n.814C>A c.72-6C>A c.277-6C>A (n.277-6C>A) n.861C>A c.372-6C>A (n.372-6C>A) | gnomAD v4 |
| 16 | g.88646204G>A | CA2241201275 | CYBA | c.288-7C>T (n.288-7C>T) c.204-7C>T (n.204-7C>T) c.418-7C>T (n.418-7C>T) c.237-7C>T (n.237-7C>T) n.568-7C>T n.813C>T c.72-7C>T c.277-7C>T (n.277-7C>T) n.860C>T c.372-7C>T (n.372-7C>T) | dbSNP gnomAD v4 |
| 16 | g.88646204G>C | CA2580092246 | CYBA | c.288-7C>G (n.288-7C>G) c.204-7C>G (n.204-7C>G) c.418-7C>G (n.418-7C>G) c.237-7C>G (n.237-7C>G) n.568-7C>G n.813C>G c.72-7C>G c.277-7C>G (n.277-7C>G) n.860C>G c.372-7C>G (n.372-7C>G) | ClinVar gnomAD v4 |
| 16 | g.88646204G= | CA2241201274 | CYBA | c.288-7C= (n.288-7C=) c.204-7C= (n.204-7C=) c.418-7C= (n.418-7C=) c.237-7C= (n.237-7C=) n.568-7C= n.813C= c.72-7C= c.277-7C= (n.277-7C=) n.860C= c.372-7C= (n.372-7C=) | |
| 16 | g.88646204G>T | CA2634842444 | CYBA | c.288-7C>A (n.288-7C>A) c.204-7C>A (n.204-7C>A) c.418-7C>A (n.418-7C>A) c.237-7C>A (n.237-7C>A) n.568-7C>A n.813C>A c.72-7C>A c.277-7C>A (n.277-7C>A) n.860C>A c.372-7C>A (n.372-7C>A) | gnomAD v4 |
| 16 | g.88646205del | CA2634842445 | CYBA | c.288-8del (n.288-8del) c.204-8del (n.204-8del) c.418-8del (n.418-8del) c.237-8del (n.237-8del) n.568-8del n.812del c.72-8del c.277-8del (n.277-8del) n.859del c.372-8del (n.372-8del) | gnomAD v4 |
| 16 | g.88646205A>G | CA2634842446 | CYBA | c.288-8T>C (n.288-8T>C) c.204-8T>C (n.204-8T>C) c.418-8T>C (n.418-8T>C) c.237-8T>C (n.237-8T>C) n.568-8T>C n.812T>C c.72-8T>C c.277-8T>C (n.277-8T>C) n.859T>C c.372-8T>C (n.372-8T>C) | gnomAD v4 |
| 16 | g.88646206C= | CA2241201276 | CYBA | c.288-9G= (n.288-9G=) c.204-9G= (n.204-9G=) c.418-9G= (n.418-9G=) c.237-9G= (n.237-9G=) n.568-9G= n.811G= c.72-9G= c.277-9G= (n.277-9G=) n.858G= c.372-9G= (n.372-9G=) | |
| 16 | g.88646206C>G | CA286352574 | CYBA | c.288-9G>C (n.288-9G>C) c.204-9G>C (n.204-9G>C) c.418-9G>C (n.418-9G>C) c.237-9G>C (n.237-9G>C) n.568-9G>C n.811G>C c.72-9G>C c.277-9G>C (n.277-9G>C) n.858G>C c.372-9G>C (n.372-9G>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.88646206C>T | CA8228272 | CYBA | c.288-9G>A (n.288-9G>A) c.204-9G>A (n.204-9G>A) c.418-9G>A (n.418-9G>A) c.237-9G>A (n.237-9G>A) n.568-9G>A n.811G>A c.72-9G>A c.277-9G>A (n.277-9G>A) n.858G>A c.372-9G>A (n.372-9G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.88646207A>T | CA2634842447 | CYBA | c.288-10T>A (n.288-10T>A) c.204-10T>A (n.204-10T>A) c.418-10T>A (n.418-10T>A) c.237-10T>A (n.237-10T>A) n.568-10T>A n.810T>A c.72-10T>A c.277-10T>A (n.277-10T>A) n.857T>A c.372-10T>A (n.372-10T>A) | gnomAD v4 |
| 16 | g.88646208G>A | CA2634842448 | CYBA | c.288-11C>T (n.288-11C>T) c.204-11C>T (n.204-11C>T) c.418-11C>T (n.418-11C>T) c.237-11C>T (n.237-11C>T) n.568-11C>T n.809C>T c.72-11C>T c.277-11C>T (n.277-11C>T) n.856C>T c.372-11C>T (n.372-11C>T) | gnomAD v4 |
| 16 | g.88646208G>C | CA8228273 | CYBA | c.288-11C>G (n.288-11C>G) c.204-11C>G (n.204-11C>G) c.418-11C>G (n.418-11C>G) c.237-11C>G (n.237-11C>G) n.568-11C>G n.809C>G c.72-11C>G c.277-11C>G (n.277-11C>G) n.856C>G c.372-11C>G (n.372-11C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.88646208G= | CA2241201277 | CYBA | c.288-11C= (n.288-11C=) c.204-11C= (n.204-11C=) c.418-11C= (n.418-11C=) c.237-11C= (n.237-11C=) n.568-11C= n.809C= c.72-11C= c.277-11C= (n.277-11C=) n.856C= c.372-11C= (n.372-11C=) | |
| 16 | g.88646208G>T | CA2634842449 | CYBA | c.288-11C>A (n.288-11C>A) c.204-11C>A (n.204-11C>A) c.418-11C>A (n.418-11C>A) c.237-11C>A (n.237-11C>A) n.568-11C>A n.809C>A c.72-11C>A c.277-11C>A (n.277-11C>A) n.856C>A c.372-11C>A (n.372-11C>A) | gnomAD v4 |
| 16 | g.88646209C>A | CA2634842450 | CYBA | c.288-12G>T (n.288-12G>T) c.204-12G>T (n.204-12G>T) c.418-12G>T (n.418-12G>T) c.237-12G>T (n.237-12G>T) n.568-12G>T n.808G>T c.72-12G>T c.277-12G>T (n.277-12G>T) n.855G>T c.372-12G>T (n.372-12G>T) | ClinVar gnomAD v4 |
| 16 | g.88646209C= | CA2241201278 | CYBA | c.288-12G= (n.288-12G=) c.204-12G= (n.204-12G=) c.418-12G= (n.418-12G=) c.237-12G= (n.237-12G=) n.568-12G= n.808G= c.72-12G= c.277-12G= (n.277-12G=) n.855G= c.372-12G= (n.372-12G=) | |
| 16 | g.88646209C>T | CA8228274 | CYBA | c.288-12G>A (n.288-12G>A) c.204-12G>A (n.204-12G>A) c.418-12G>A (n.418-12G>A) c.237-12G>A (n.237-12G>A) n.568-12G>A n.808G>A c.72-12G>A c.277-12G>A (n.277-12G>A) n.855G>A c.372-12G>A (n.372-12G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.88646210G>A | CA8228275 | CYBA | c.288-13C>T (n.288-13C>T) c.204-13C>T (n.204-13C>T) c.418-13C>T (n.418-13C>T) c.237-13C>T (n.237-13C>T) n.568-13C>T n.807C>T c.72-13C>T c.277-13C>T (n.277-13C>T) n.854C>T c.372-13C>T (n.372-13C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.88646210G= | CA2241201279 | CYBA | c.288-13C= (n.288-13C=) c.204-13C= (n.204-13C=) c.418-13C= (n.418-13C=) c.237-13C= (n.237-13C=) n.568-13C= n.807C= c.72-13C= c.277-13C= (n.277-13C=) n.854C= c.372-13C= (n.372-13C=) | |
| 16 | g.88646210G>T | CA2241201280 | CYBA | c.288-13C>A (n.288-13C>A) c.204-13C>A (n.204-13C>A) c.418-13C>A (n.418-13C>A) c.237-13C>A (n.237-13C>A) n.568-13C>A n.807C>A c.72-13C>A c.277-13C>A (n.277-13C>A) n.854C>A c.372-13C>A (n.372-13C>A) | dbSNP gnomAD v4 |
| 16 | g.88646211G>A | CA624184042 | CYBA | c.288-14C>T (n.288-14C>T) c.204-14C>T (n.204-14C>T) c.418-14C>T (n.418-14C>T) c.237-14C>T (n.237-14C>T) n.568-14C>T n.806C>T c.72-14C>T c.277-14C>T (n.277-14C>T) n.853C>T c.372-14C>T (n.372-14C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.88646211G= | CA2241201281 | CYBA | c.288-14C= (n.288-14C=) c.204-14C= (n.204-14C=) c.418-14C= (n.418-14C=) c.237-14C= (n.237-14C=) n.568-14C= n.806C= c.72-14C= c.277-14C= (n.277-14C=) n.853C= c.372-14C= (n.372-14C=) | |
| 16 | g.88646211G>T | CA2576090846 | CYBA | c.288-14C>A (n.288-14C>A) c.204-14C>A (n.204-14C>A) c.418-14C>A (n.418-14C>A) c.237-14C>A (n.237-14C>A) n.568-14C>A n.806C>A c.72-14C>A c.277-14C>A (n.277-14C>A) n.853C>A c.372-14C>A (n.372-14C>A) | gnomAD v4 |
| 16 | g.88646212G>A | CA2634842452 | CYBA | c.288-15C>T (n.288-15C>T) c.204-15C>T (n.204-15C>T) c.418-15C>T (n.418-15C>T) c.237-15C>T (n.237-15C>T) n.568-15C>T n.805C>T c.72-15C>T c.277-15C>T (n.277-15C>T) n.852C>T c.372-15C>T (n.372-15C>T) | ClinVar gnomAD v4 |
| 16 | g.88646212G>C | CA913190816 | CYBA | c.288-15C>G (n.288-15C>G) c.204-15C>G (n.204-15C>G) c.418-15C>G (n.418-15C>G) c.237-15C>G (n.237-15C>G) n.568-15C>G n.805C>G c.72-15C>G c.277-15C>G (n.277-15C>G) n.852C>G c.372-15C>G (n.372-15C>G) | ClinVar dbSNP gnomAD v4 |
| 16 | g.88646212G= | CA2241201282 | CYBA | c.288-15C= (n.288-15C=) c.204-15C= (n.204-15C=) c.418-15C= (n.418-15C=) c.237-15C= (n.237-15C=) n.568-15C= n.805C= c.72-15C= c.277-15C= (n.277-15C=) n.852C= c.372-15C= (n.372-15C=) | |
| 16 | g.88646212G>T | CA2634842451 | CYBA | c.288-15C>A (n.288-15C>A) c.204-15C>A (n.204-15C>A) c.418-15C>A (n.418-15C>A) c.237-15C>A (n.237-15C>A) n.568-15C>A n.805C>A c.72-15C>A c.277-15C>A (n.277-15C>A) n.852C>A c.372-15C>A (n.372-15C>A) | gnomAD v4 |
| 16 | g.88646213del | CA2634842453 | CYBA | c.288-16del (n.288-16del) c.204-16del (n.204-16del) c.418-16del (n.418-16del) c.237-16del (n.237-16del) n.568-16del n.804del c.72-16del c.277-16del (n.277-16del) n.851del c.372-16del (n.372-16del) | gnomAD v4 |
| 16 | g.88646213T>A | CA2634842454 | CYBA | c.288-16A>T (n.288-16A>T) c.204-16A>T (n.204-16A>T) c.418-16A>T (n.418-16A>T) c.237-16A>T (n.237-16A>T) n.568-16A>T n.804A>T c.72-16A>T c.277-16A>T (n.277-16A>T) n.851A>T c.372-16A>T (n.372-16A>T) | gnomAD v4 |
| 16 | g.88646213T>G | CA725614549 | CYBA | c.288-16A>C (n.288-16A>C) c.204-16A>C (n.204-16A>C) c.418-16A>C (n.418-16A>C) c.237-16A>C (n.237-16A>C) n.568-16A>C n.804A>C c.72-16A>C c.277-16A>C (n.277-16A>C) n.851A>C c.372-16A>C (n.372-16A>C) | dbSNP gnomAD v4 |
| 16 | g.88646213T= | CA2241201283 | CYBA | c.288-16A= (n.288-16A=) c.204-16A= (n.204-16A=) c.418-16A= (n.418-16A=) c.237-16A= (n.237-16A=) n.568-16A= n.804A= c.72-16A= c.277-16A= (n.277-16A=) n.851A= c.372-16A= (n.372-16A=) | |
| 16 | g.88646214G>A | CA2576090848 | CYBA | c.288-17C>T (n.288-17C>T) c.204-17C>T (n.204-17C>T) c.418-17C>T (n.418-17C>T) c.237-17C>T (n.237-17C>T) n.568-17C>T n.803C>T c.72-17C>T c.277-17C>T (n.277-17C>T) n.850C>T c.372-17C>T (n.372-17C>T) | ClinVar gnomAD v4 |
| 16 | g.88646214G>T | CA2634842455 | CYBA | c.288-17C>A (n.288-17C>A) c.204-17C>A (n.204-17C>A) c.418-17C>A (n.418-17C>A) c.237-17C>A (n.237-17C>A) n.568-17C>A n.803C>A c.72-17C>A c.277-17C>A (n.277-17C>A) n.850C>A c.372-17C>A (n.372-17C>A) | gnomAD v4 |
| 16 | g.88646217_88646218del | CA2576090847 | CYBA | c.288-18_288-17del (n.288-18_288-17del) c.204-18_204-17del (n.204-18_204-17del) c.418-18_418-17del (n.418-18_418-17del) c.237-18_237-17del (n.237-18_237-17del) n.568-18_568-17del n.802_803del c.72-18_72-17del c.277-18_277-17del (n.277-18_277-17del) n.849_850del c.372-18_372-17del (n.372-18_372-17del) | |
| 16 | g.88646215A>T | CA2634842456 | CYBA | c.288-18T>A (n.288-18T>A) c.204-18T>A (n.204-18T>A) c.418-18T>A (n.418-18T>A) c.237-18T>A (n.237-18T>A) n.568-18T>A n.802T>A c.72-18T>A c.277-18T>A (n.277-18T>A) n.849T>A c.372-18T>A (n.372-18T>A) | gnomAD v4 |
| 16 | g.88646216G>A | CA2576090849 | CYBA | c.288-19C>T (n.288-19C>T) c.204-19C>T (n.204-19C>T) c.418-19C>T (n.418-19C>T) c.237-19C>T (n.237-19C>T) n.568-19C>T n.801C>T c.72-19C>T c.277-19C>T (n.277-19C>T) n.848C>T c.372-19C>T (n.372-19C>T) | gnomAD v4 |
| 16 | g.88646216G>C | CA624184043 | CYBA | c.288-19C>G (n.288-19C>G) c.204-19C>G (n.204-19C>G) c.418-19C>G (n.418-19C>G) c.237-19C>G (n.237-19C>G) n.568-19C>G n.801C>G c.72-19C>G c.277-19C>G (n.277-19C>G) n.848C>G c.372-19C>G (n.372-19C>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.88646216G= | CA2241201284 | CYBA | c.288-19C= (n.288-19C=) c.204-19C= (n.204-19C=) c.418-19C= (n.418-19C=) c.237-19C= (n.237-19C=) n.568-19C= n.801C= c.72-19C= c.277-19C= (n.277-19C=) n.848C= c.372-19C= (n.372-19C=) | |
| 16 | g.88646216G>T | CA725614553 | CYBA | c.288-19C>A (n.288-19C>A) c.204-19C>A (n.204-19C>A) c.418-19C>A (n.418-19C>A) c.237-19C>A (n.237-19C>A) n.568-19C>A n.801C>A c.72-19C>A c.277-19C>A (n.277-19C>A) n.848C>A c.372-19C>A (n.372-19C>A) | dbSNP gnomAD v4 |
| 16 | g.88646217A>G | CA2634842457 | CYBA | c.288-20T>C (n.288-20T>C) c.204-20T>C (n.204-20T>C) c.418-20T>C (n.418-20T>C) c.237-20T>C (n.237-20T>C) n.568-20T>C n.800T>C c.72-20T>C c.277-20T>C (n.277-20T>C) n.847T>C c.372-20T>C (n.372-20T>C) | gnomAD v4 |
| 16 | g.88646218G>A | CA624184046 | CYBA | c.288-21C>T (n.288-21C>T) c.204-21C>T (n.204-21C>T) c.418-21C>T (n.418-21C>T) c.237-21C>T (n.237-21C>T) n.568-21C>T n.799C>T c.72-21C>T c.277-21C>T (n.277-21C>T) n.846C>T c.372-21C>T (n.372-21C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.88646218G= | CA2241201285 | CYBA | c.288-21C= (n.288-21C=) c.204-21C= (n.204-21C=) c.418-21C= (n.418-21C=) c.237-21C= (n.237-21C=) n.568-21C= n.799C= c.72-21C= c.277-21C= (n.277-21C=) n.846C= c.372-21C= (n.372-21C=) | |
| 16 | g.88646218G>T | CA2634842458 | CYBA | c.288-21C>A (n.288-21C>A) c.204-21C>A (n.204-21C>A) c.418-21C>A (n.418-21C>A) c.237-21C>A (n.237-21C>A) n.568-21C>A n.799C>A c.72-21C>A c.277-21C>A (n.277-21C>A) n.846C>A c.372-21C>A (n.372-21C>A) | gnomAD v4 |
| 16 | g.88646219G>A | CA286352579 | CYBA | c.288-22C>T (n.288-22C>T) c.204-22C>T (n.204-22C>T) c.418-22C>T (n.418-22C>T) c.237-22C>T (n.237-22C>T) n.568-22C>T n.798C>T c.72-22C>T c.277-22C>T (n.277-22C>T) n.845C>T c.372-22C>T (n.372-22C>T) | dbSNP gnomAD v4 |
| 16 | g.88646219G= | CA2241201286 | CYBA | c.288-22C= (n.288-22C=) c.204-22C= (n.204-22C=) c.418-22C= (n.418-22C=) c.237-22C= (n.237-22C=) n.568-22C= n.798C= c.72-22C= c.277-22C= (n.277-22C=) n.845C= c.372-22C= (n.372-22C=) | |
| 16 | g.88646219G>T | CA2634842459 | CYBA | c.288-22C>A (n.288-22C>A) c.204-22C>A (n.204-22C>A) c.418-22C>A (n.418-22C>A) c.237-22C>A (n.237-22C>A) n.568-22C>A n.798C>A c.72-22C>A c.277-22C>A (n.277-22C>A) n.845C>A c.372-22C>A (n.372-22C>A) | gnomAD v4 |
| 16 | g.88646220C>A | CA2634842460 | CYBA | c.288-23G>T (n.288-23G>T) c.204-23G>T (n.204-23G>T) c.418-23G>T (n.418-23G>T) c.237-23G>T (n.237-23G>T) n.568-23G>T n.797G>T c.72-23G>T c.277-23G>T (n.277-23G>T) n.844G>T c.372-23G>T (n.372-23G>T) | gnomAD v4 |
| 16 | g.88646220C>G | CA2634842461 | CYBA | c.288-23G>C (n.288-23G>C) c.204-23G>C (n.204-23G>C) c.418-23G>C (n.418-23G>C) c.237-23G>C (n.237-23G>C) n.568-23G>C n.797G>C c.72-23G>C c.277-23G>C (n.277-23G>C) n.844G>C c.372-23G>C (n.372-23G>C) | gnomAD v4 |
| 16 | g.88646220C>T | CA2634842462 | CYBA | c.288-23G>A (n.288-23G>A) c.204-23G>A (n.204-23G>A) c.418-23G>A (n.418-23G>A) c.237-23G>A (n.237-23G>A) n.568-23G>A n.797G>A c.72-23G>A c.277-23G>A (n.277-23G>A) n.844G>A c.372-23G>A (n.372-23G>A) | gnomAD v4 |
| 16 | g.88646221A>G | CA2634842464 | CYBA | c.288-24T>C (n.288-24T>C) c.204-24T>C (n.204-24T>C) c.418-24T>C (n.418-24T>C) c.237-24T>C (n.237-24T>C) n.568-24T>C n.796T>C c.72-24T>C c.277-24T>C (n.277-24T>C) n.843T>C c.372-24T>C (n.372-24T>C) | gnomAD v4 |
| 16 | g.88646221A>T | CA2634842463 | CYBA | c.288-24T>A (n.288-24T>A) c.204-24T>A (n.204-24T>A) c.418-24T>A (n.418-24T>A) c.237-24T>A (n.237-24T>A) n.568-24T>A n.796T>A c.72-24T>A c.277-24T>A (n.277-24T>A) n.843T>A c.372-24T>A (n.372-24T>A) | gnomAD v4 |
| 16 | g.88646222G>T | CA2634842466 | CYBA | c.288-25C>A (n.288-25C>A) c.204-25C>A (n.204-25C>A) c.418-25C>A (n.418-25C>A) c.237-25C>A (n.237-25C>A) n.568-25C>A n.795C>A c.72-25C>A c.277-25C>A (n.277-25C>A) n.842C>A c.372-25C>A (n.372-25C>A) | gnomAD v4 |
| 16 | g.88646224del | CA2634842465 | CYBA | c.288-25del (n.288-25del) c.204-25del (n.204-25del) c.418-25del (n.418-25del) c.237-25del (n.237-25del) n.568-25del n.795del c.72-25del c.277-25del (n.277-25del) n.842del c.372-25del (n.372-25del) | gnomAD v4 |
| 16 | g.88646223G>A | CA2634842467 | CYBA | c.288-26C>T (n.288-26C>T) c.204-26C>T (n.204-26C>T) c.418-26C>T (n.418-26C>T) c.237-26C>T (n.237-26C>T) n.568-26C>T n.794C>T c.72-26C>T c.277-26C>T (n.277-26C>T) n.841C>T c.372-26C>T (n.372-26C>T) | gnomAD v4 |
| 16 | g.88646223G>T | CA2634842468 | CYBA | c.288-26C>A (n.288-26C>A) c.204-26C>A (n.204-26C>A) c.418-26C>A (n.418-26C>A) c.237-26C>A (n.237-26C>A) n.568-26C>A n.794C>A c.72-26C>A c.277-26C>A (n.277-26C>A) n.841C>A c.372-26C>A (n.372-26C>A) | gnomAD v4 |
| 16 | g.88646224G>T | CA2634842469 | CYBA | c.288-27C>A (n.288-27C>A) c.204-27C>A (n.204-27C>A) c.418-27C>A (n.418-27C>A) c.237-27C>A (n.237-27C>A) n.568-27C>A n.793C>A c.72-27C>A c.277-27C>A (n.277-27C>A) n.840C>A c.372-27C>A (n.372-27C>A) | gnomAD v4 |
| 16 | g.88646225A= | CA2241201287 | CYBA | c.288-28T= (n.288-28T=) c.204-28T= (n.204-28T=) c.418-28T= (n.418-28T=) c.237-28T= (n.237-28T=) n.568-28T= n.792T= c.72-28T= c.277-28T= (n.277-28T=) n.839T= c.372-28T= (n.372-28T=) | |
| 16 | g.88646225A>G | CA2241201288 | CYBA | c.288-28T>C (n.288-28T>C) c.204-28T>C (n.204-28T>C) c.418-28T>C (n.418-28T>C) c.237-28T>C (n.237-28T>C) n.568-28T>C n.792T>C c.72-28T>C c.277-28T>C (n.277-28T>C) n.839T>C c.372-28T>C (n.372-28T>C) | dbSNP gnomAD v4 |
| 16 | g.88646225A>T | CA2634842470 | CYBA | c.288-28T>A (n.288-28T>A) c.204-28T>A (n.204-28T>A) c.418-28T>A (n.418-28T>A) c.237-28T>A (n.237-28T>A) n.568-28T>A n.792T>A c.72-28T>A c.277-28T>A (n.277-28T>A) n.839T>A c.372-28T>A (n.372-28T>A) | gnomAD v4 |
| 16 | g.88646226C>A | CA2634842471 | CYBA | c.288-29G>T (n.288-29G>T) c.204-29G>T (n.204-29G>T) c.418-29G>T (n.418-29G>T) c.237-29G>T (n.237-29G>T) n.568-29G>T n.791G>T c.72-29G>T c.277-29G>T (n.277-29G>T) n.838G>T c.372-29G>T (n.372-29G>T) | gnomAD v4 |
| 16 | g.88646226C= | CA2241201289 | CYBA | c.288-29G= (n.288-29G=) c.204-29G= (n.204-29G=) c.418-29G= (n.418-29G=) c.237-29G= (n.237-29G=) n.568-29G= n.791G= c.72-29G= c.277-29G= (n.277-29G=) n.838G= c.372-29G= (n.372-29G=) | |
| 16 | g.88646226C>G | CA2634842472 | CYBA | c.288-29G>C (n.288-29G>C) c.204-29G>C (n.204-29G>C) c.418-29G>C (n.418-29G>C) c.237-29G>C (n.237-29G>C) n.568-29G>C n.791G>C c.72-29G>C c.277-29G>C (n.277-29G>C) n.838G>C c.372-29G>C (n.372-29G>C) | gnomAD v4 |
| 16 | g.88646226C>T | CA624184048 | CYBA | c.288-29G>A (n.288-29G>A) c.204-29G>A (n.204-29G>A) c.418-29G>A (n.418-29G>A) c.237-29G>A (n.237-29G>A) n.568-29G>A n.791G>A c.72-29G>A c.277-29G>A (n.277-29G>A) n.838G>A c.372-29G>A (n.372-29G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.88646227A= | CA2241201290 | CYBA | c.288-30T= (n.288-30T=) c.204-30T= (n.204-30T=) c.418-30T= (n.418-30T=) c.237-30T= (n.237-30T=) n.568-30T= n.790T= c.72-30T= c.277-30T= (n.277-30T=) n.837T= c.372-30T= (n.372-30T=) | |
| 16 | g.88646227A>G | CA2241201291 | CYBA | c.288-30T>C (n.288-30T>C) c.204-30T>C (n.204-30T>C) c.418-30T>C (n.418-30T>C) c.237-30T>C (n.237-30T>C) n.568-30T>C n.790T>C c.72-30T>C c.277-30T>C (n.277-30T>C) n.837T>C c.372-30T>C (n.372-30T>C) | dbSNP gnomAD v4 |
| 16 | g.88646227A>T | CA2634842473 | CYBA | c.288-30T>A (n.288-30T>A) c.204-30T>A (n.204-30T>A) c.418-30T>A (n.418-30T>A) c.237-30T>A (n.237-30T>A) n.568-30T>A n.790T>A c.72-30T>A c.277-30T>A (n.277-30T>A) n.837T>A c.372-30T>A (n.372-30T>A) | gnomAD v4 |
| 16 | g.88646228C>A | CA2634842474 | CYBA | c.288-31G>T (n.288-31G>T) c.204-31G>T (n.204-31G>T) c.418-31G>T (n.418-31G>T) c.237-31G>T (n.237-31G>T) n.568-31G>T n.789G>T c.72-31G>T c.277-31G>T (n.277-31G>T) n.836G>T c.372-31G>T (n.372-31G>T) | gnomAD v4 |
| 16 | g.88646228C= | CA2241201293 | CYBA | c.288-31G= (n.288-31G=) c.204-31G= (n.204-31G=) c.418-31G= (n.418-31G=) c.237-31G= (n.237-31G=) n.568-31G= n.789G= c.72-31G= c.277-31G= (n.277-31G=) n.836G= c.372-31G= (n.372-31G=) | |
| 16 | g.88646228C>G | CA2241201292 | CYBA | c.288-31G>C (n.288-31G>C) c.204-31G>C (n.204-31G>C) c.418-31G>C (n.418-31G>C) c.237-31G>C (n.237-31G>C) n.568-31G>C n.789G>C c.72-31G>C c.277-31G>C (n.277-31G>C) n.836G>C c.372-31G>C (n.372-31G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.88646228C>T | CA2520807880 | CYBA | c.288-31G>A (n.288-31G>A) c.204-31G>A (n.204-31G>A) c.418-31G>A (n.418-31G>A) c.237-31G>A (n.237-31G>A) n.568-31G>A n.789G>A c.72-31G>A c.277-31G>A (n.277-31G>A) n.836G>A c.372-31G>A (n.372-31G>A) | gnomAD v4 |
| 16 | g.88646229A= | CA2241201294 | CYBA | c.288-32T= (n.288-32T=) c.204-32T= (n.204-32T=) c.418-32T= (n.418-32T=) c.237-32T= (n.237-32T=) n.568-32T= n.788T= c.72-32T= c.277-32T= (n.277-32T=) n.835T= c.372-32T= (n.372-32T=) | |
| 16 | g.88646229A>C | CA2634842476 | CYBA | c.288-32T>G (n.288-32T>G) c.204-32T>G (n.204-32T>G) c.418-32T>G (n.418-32T>G) c.237-32T>G (n.237-32T>G) n.568-32T>G n.788T>G c.72-32T>G c.277-32T>G (n.277-32T>G) n.835T>G c.372-32T>G (n.372-32T>G) | gnomAD v4 |
| 16 | g.88646229A>G | CA2634842477 | CYBA | c.288-32T>C (n.288-32T>C) c.204-32T>C (n.204-32T>C) c.418-32T>C (n.418-32T>C) c.237-32T>C (n.237-32T>C) n.568-32T>C n.788T>C c.72-32T>C c.277-32T>C (n.277-32T>C) n.835T>C c.372-32T>C (n.372-32T>C) | gnomAD v4 |
| 16 | g.88646229A>T | CA8228276 | CYBA | c.288-32T>A (n.288-32T>A) c.204-32T>A (n.204-32T>A) c.418-32T>A (n.418-32T>A) c.237-32T>A (n.237-32T>A) n.568-32T>A n.788T>A c.72-32T>A c.277-32T>A (n.277-32T>A) n.835T>A c.372-32T>A (n.372-32T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.88646230_88646231del | CA2634842475 | CYBA | c.288-33_288-32del (n.288-33_288-32del) c.204-33_204-32del (n.204-33_204-32del) c.418-33_418-32del (n.418-33_418-32del) c.237-33_237-32del (n.237-33_237-32del) n.568-33_568-32del n.787_788del c.72-33_72-32del c.277-33_277-32del (n.277-33_277-32del) n.834_835del c.372-33_372-32del (n.372-33_372-32del) | gnomAD v4 |
| 16 | g.88646230G>A | CA2634842478 | CYBA | c.288-33C>T (n.288-33C>T) c.204-33C>T (n.204-33C>T) c.418-33C>T (n.418-33C>T) c.237-33C>T (n.237-33C>T) n.568-33C>T n.787C>T c.72-33C>T c.277-33C>T (n.277-33C>T) n.834C>T c.372-33C>T (n.372-33C>T) | gnomAD v4 |
| 16 | g.88646230G>C | CA624184051 | CYBA | c.288-33C>G (n.288-33C>G) c.204-33C>G (n.204-33C>G) c.418-33C>G (n.418-33C>G) c.237-33C>G (n.237-33C>G) n.568-33C>G n.787C>G c.72-33C>G c.277-33C>G (n.277-33C>G) n.834C>G c.372-33C>G (n.372-33C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.88646230G= | CA2241201295 | CYBA | c.288-33C= (n.288-33C=) c.204-33C= (n.204-33C=) c.418-33C= (n.418-33C=) c.237-33C= (n.237-33C=) n.568-33C= n.787C= c.72-33C= c.277-33C= (n.277-33C=) n.834C= c.372-33C= (n.372-33C=) | |
| 16 | g.88646230G>T | CA2634842479 | CYBA | c.288-33C>A (n.288-33C>A) c.204-33C>A (n.204-33C>A) c.418-33C>A (n.418-33C>A) c.237-33C>A (n.237-33C>A) n.568-33C>A n.787C>A c.72-33C>A c.277-33C>A (n.277-33C>A) n.834C>A c.372-33C>A (n.372-33C>A) | gnomAD v4 |
| 16 | g.88646231A>G | CA2634842480 | CYBA | c.288-34T>C (n.288-34T>C) c.204-34T>C (n.204-34T>C) c.418-34T>C (n.418-34T>C) c.237-34T>C (n.237-34T>C) n.568-34T>C n.786T>C c.72-34T>C c.277-34T>C (n.277-34T>C) n.833T>C c.372-34T>C (n.372-34T>C) | gnomAD v4 |
| 16 | g.88646233G>A | CA2241201297 | CYBA | c.288-36C>T (n.288-36C>T) c.204-36C>T (n.204-36C>T) c.418-36C>T (n.418-36C>T) c.237-36C>T (n.237-36C>T) n.568-36C>T n.784C>T c.72-36C>T c.277-36C>T (n.277-36C>T) n.831C>T c.372-36C>T (n.372-36C>T) | dbSNP |
| 16 | g.88646233G= | CA2241201296 | CYBA | c.288-36C= (n.288-36C=) c.204-36C= (n.204-36C=) c.418-36C= (n.418-36C=) c.237-36C= (n.237-36C=) n.568-36C= n.784C= c.72-36C= c.277-36C= (n.277-36C=) n.831C= c.372-36C= (n.372-36C=) | |
| 16 | g.88646233G>T | CA2634842481 | CYBA | c.288-36C>A (n.288-36C>A) c.204-36C>A (n.204-36C>A) c.418-36C>A (n.418-36C>A) c.237-36C>A (n.237-36C>A) n.568-36C>A n.784C>A c.72-36C>A c.277-36C>A (n.277-36C>A) n.831C>A c.372-36C>A (n.372-36C>A) | gnomAD v4 |
| 16 | g.88646235del | CA2576090850 | CYBA | c.288-36del (n.288-36del) c.204-36del (n.204-36del) c.418-36del (n.418-36del) c.237-36del (n.237-36del) n.568-36del n.784del c.72-36del c.277-36del (n.277-36del) n.831del c.372-36del (n.372-36del) |