OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.33051895_33051898dup | CA1139657923 | GLB1 | c.900_903dup (p.Ser302GlyfsTer?) c.507_510dup (p.Ser171GlyfsTer?) c.810_813dup (p.Ser272GlyfsTer?) c.423_426dup (p.Ser143GlyfsTer?) c.*343_*346dup (n.*343_*346dup) n.275_278dup n.303_306dup n.426_429dup c.1044_1047dup (p.Ser350GlyfsTer?) | ClinVar dbSNP |
| 3 | g.33051897C>A | CA432959427 | GLB1 | c.900G>T (p.Gly300=) c.507G>T (p.Gly169=) c.810G>T (p.Gly270=) c.423G>T (p.Gly141=) c.*343G>T (n.*343G>T) n.275G>T n.303G>T n.426G>T c.1044G>T (p.Gly348=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.33051897C= | CA1356001022 | GLB1 | c.900G= (p.Gly300=) c.507G= (p.Gly169=) c.810G= (p.Gly270=) c.423G= (p.Gly141=) c.*343G= (n.*343G=) n.275G= n.303G= n.426G= c.1044G= (p.Gly348=) | |
| 3 | g.33051897C>G | CA432959428 | GLB1 | c.900G>C (p.Gly300=) c.507G>C (p.Gly169=) c.810G>C (p.Gly270=) c.423G>C (p.Gly141=) c.*343G>C (n.*343G>C) n.275G>C n.303G>C n.426G>C c.1044G>C (p.Gly348=) | |
| 3 | g.33051897C>T | CA432959429 | GLB1 | c.900G>A (p.Gly300=) c.507G>A (p.Gly169=) c.810G>A (p.Gly270=) c.423G>A (p.Gly141=) c.*343G>A (n.*343G>A) n.275G>A n.303G>A n.426G>A c.1044G>A (p.Gly348=) | |
| 3 | g.33051898C>A | CA352001215 | GLB1 | c.899G>T (p.Gly300Val) c.506G>T (p.Gly169Val) c.809G>T (p.Gly270Val) c.422G>T (p.Gly141Val) c.*342G>T (n.*342G>T) n.274G>T n.302G>T n.425G>T c.1043G>T (p.Gly348Val) | |
| 3 | g.33051898C>G | CA352001217 | GLB1 | c.899G>C (p.Gly300Ala) c.506G>C (p.Gly169Ala) c.809G>C (p.Gly270Ala) c.422G>C (p.Gly141Ala) c.*342G>C (n.*342G>C) n.274G>C n.302G>C n.425G>C c.1043G>C (p.Gly348Ala) | |
| 3 | g.33051898C>T | CA352001219 | GLB1 | c.899G>A (p.Gly300Glu) c.506G>A (p.Gly169Glu) c.809G>A (p.Gly270Glu) c.422G>A (p.Gly141Glu) c.*342G>A (n.*342G>A) n.274G>A n.302G>A n.425G>A c.1043G>A (p.Gly348Glu) | |
| 3 | g.33051899C>A | CA352001222 | GLB1 | c.898G>T (p.Gly300Trp) c.505G>T (p.Gly169Trp) c.808G>T (p.Gly270Trp) c.421G>T (p.Gly141Trp) c.*341G>T (n.*341G>T) n.273G>T n.301G>T n.424G>T c.1042G>T (p.Gly348Trp) | |
| 3 | g.33051899C>G | CA352001223 | GLB1 | c.898G>C (p.Gly300Arg) c.505G>C (p.Gly169Arg) c.808G>C (p.Gly270Arg) c.421G>C (p.Gly141Arg) c.*341G>C (n.*341G>C) n.273G>C n.301G>C n.424G>C c.1042G>C (p.Gly348Arg) | |
| 3 | g.33051899C>T | CA352001225 | GLB1 | c.898G>A (p.Gly300Arg) c.505G>A (p.Gly169Arg) c.808G>A (p.Gly270Arg) c.421G>A (p.Gly141Arg) c.*341G>A (n.*341G>A) n.273G>A n.301G>A n.424G>A c.1042G>A (p.Gly348Arg) | |
| 3 | g.33051900A>C | CA432959430 | GLB1 | c.897T>G (p.Arg299=) c.504T>G (p.Arg168=) c.807T>G (p.Arg269=) c.420T>G (p.Arg140=) c.*340T>G (n.*340T>G) n.272T>G n.300T>G n.423T>G c.1041T>G (p.Arg347=) | |
| 3 | g.33051900A>G | CA432959432 | GLB1 | c.897T>C (p.Arg299=) c.504T>C (p.Arg168=) c.807T>C (p.Arg269=) c.420T>C (p.Arg140=) c.*340T>C (n.*340T>C) n.272T>C n.300T>C n.423T>C c.1041T>C (p.Arg347=) | |
| 3 | g.33051900A>T | CA432959431 | GLB1 | c.897T>A (p.Arg299=) c.504T>A (p.Arg168=) c.807T>A (p.Arg269=) c.420T>A (p.Arg140=) c.*340T>A (n.*340T>A) n.272T>A n.300T>A n.423T>A c.1041T>A (p.Arg347=) | |
| 3 | g.33051901C>A | CA352001227 | GLB1 | c.896G>T (p.Arg299Leu) c.503G>T (p.Arg168Leu) c.806G>T (p.Arg269Leu) c.419G>T (p.Arg140Leu) c.*339G>T (n.*339G>T) n.271G>T n.299G>T n.422G>T c.1040G>T (p.Arg347Leu) | |
| 3 | g.33051901C= | CA1356001023 | GLB1 | c.896G= (p.Arg299=) c.503G= (p.Arg168=) c.806G= (p.Arg269=) c.419G= (p.Arg140=) c.*339G= (n.*339G=) n.271G= n.299G= n.422G= c.1040G= (p.Arg347=) | |
| 3 | g.33051901C>G | CA352001229 | GLB1 | c.896G>C (p.Arg299Pro) c.503G>C (p.Arg168Pro) c.806G>C (p.Arg269Pro) c.419G>C (p.Arg140Pro) c.*339G>C (n.*339G>C) n.271G>C n.299G>C n.422G>C c.1040G>C (p.Arg347Pro) | |
| 3 | g.33051901C>T | CA2299571 | GLB1 | c.896G>A (p.Arg299His) c.503G>A (p.Arg168His) c.806G>A (p.Arg269His) c.419G>A (p.Arg140His) c.*339G>A (n.*339G>A) n.271G>A n.299G>A n.422G>A c.1040G>A (p.Arg347His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.33051902G>A | CA352001237 | GLB1 | c.895C>T (p.Arg299Cys) c.502C>T (p.Arg168Cys) c.805C>T (p.Arg269Cys) c.418C>T (p.Arg140Cys) c.*338C>T (n.*338C>T) n.270C>T n.298C>T n.421C>T c.1039C>T (p.Arg347Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.33051902G>C | CA352001235 | GLB1 | c.895C>G (p.Arg299Gly) c.502C>G (p.Arg168Gly) c.805C>G (p.Arg269Gly) c.418C>G (p.Arg140Gly) c.*338C>G (n.*338C>G) n.270C>G n.298C>G n.421C>G c.1039C>G (p.Arg347Gly) | |
| 3 | g.33051902G= | CA1356001024 | GLB1 | c.895C= (p.Arg299=) c.502C= (p.Arg168=) c.805C= (p.Arg269=) c.418C= (p.Arg140=) c.*338C= (n.*338C=) n.270C= n.298C= n.421C= c.1039C= (p.Arg347=) | |
| 3 | g.33051902G>T | CA352001233 | GLB1 | c.895C>A (p.Arg299Ser) c.502C>A (p.Arg168Ser) c.805C>A (p.Arg269Ser) c.418C>A (p.Arg140Ser) c.*338C>A (n.*338C>A) n.270C>A n.298C>A n.421C>A c.1039C>A (p.Arg347Ser) | |
| 3 | g.33051904del | CA2586971847 | GLB1 | c.895del (p.Arg299ValfsTer5) c.502del (p.Arg168ValfsTer5) c.805del (p.Arg269ValfsTer5) c.418del (p.Arg140ValfsTer5) c.*338del (n.*338del) n.270del n.298del n.421del c.1039del (p.Arg347ValfsTer5) | |
| 3 | g.33051903G>A | CA432959433 | GLB1 | c.894C>T (p.Ala298=) c.501C>T (p.Ala167=) c.804C>T (p.Ala268=) c.417C>T (p.Ala139=) c.*337C>T (n.*337C>T) n.269C>T n.297C>T n.420C>T c.1038C>T (p.Ala346=) | COSMIC COSMIC |
| 3 | g.33051903G>C | CA432959434 | GLB1 | c.894C>G (p.Ala298=) c.501C>G (p.Ala167=) c.804C>G (p.Ala268=) c.417C>G (p.Ala139=) c.*337C>G (n.*337C>G) n.269C>G n.297C>G n.420C>G c.1038C>G (p.Ala346=) | |
| 3 | g.33051903G>T | CA432959435 | GLB1 | c.894C>A (p.Ala298=) c.501C>A (p.Ala167=) c.804C>A (p.Ala268=) c.417C>A (p.Ala139=) c.*337C>A (n.*337C>A) n.269C>A n.297C>A n.420C>A c.1038C>A (p.Ala346=) | |
| 3 | g.33051904G>A | CA352001240 | GLB1 | c.893C>T (p.Ala298Val) c.500C>T (p.Ala167Val) c.803C>T (p.Ala268Val) c.416C>T (p.Ala139Val) c.*336C>T (n.*336C>T) n.268C>T n.296C>T n.419C>T c.1037C>T (p.Ala346Val) | |
| 3 | g.33051904G>C | CA352001242 | GLB1 | c.893C>G (p.Ala298Gly) c.500C>G (p.Ala167Gly) c.803C>G (p.Ala268Gly) c.416C>G (p.Ala139Gly) c.*336C>G (n.*336C>G) n.268C>G n.296C>G n.419C>G c.1037C>G (p.Ala346Gly) | |
| 3 | g.33051904G= | CA1356001025 | GLB1 | c.893C= (p.Ala298=) c.500C= (p.Ala167=) c.803C= (p.Ala268=) c.416C= (p.Ala139=) c.*336C= (n.*336C=) n.268C= n.296C= n.419C= c.1037C= (p.Ala346=) | |
| 3 | g.33051904G>T | CA352001245 | GLB1 | c.893C>A (p.Ala298Asp) c.500C>A (p.Ala167Asp) c.803C>A (p.Ala268Asp) c.416C>A (p.Ala139Asp) c.*336C>A (n.*336C>A) n.268C>A n.296C>A n.419C>A c.1037C>A (p.Ala346Asp) | |
| 3 | g.33051905C>A | CA352001248 | GLB1 | c.892G>T (p.Ala298Ser) c.499G>T (p.Ala167Ser) c.802G>T (p.Ala268Ser) c.415G>T (p.Ala139Ser) c.*335G>T (n.*335G>T) n.267G>T n.295G>T n.418G>T c.1036G>T (p.Ala346Ser) | |
| 3 | g.33051905C>G | CA352001250 | GLB1 | c.892G>C (p.Ala298Pro) c.499G>C (p.Ala167Pro) c.802G>C (p.Ala268Pro) c.415G>C (p.Ala139Pro) c.*335G>C (n.*335G>C) n.267G>C n.295G>C n.418G>C c.1036G>C (p.Ala346Pro) | |
| 3 | g.33051905C>T | CA352001252 | GLB1 | c.892G>A (p.Ala298Thr) c.499G>A (p.Ala167Thr) c.802G>A (p.Ala268Thr) c.415G>A (p.Ala139Thr) c.*335G>A (n.*335G>A) n.267G>A n.295G>A n.418G>A c.1036G>A (p.Ala346Thr) | |
| 3 | g.33051905dup | CA916865917 | GLB1 | c.892dup (p.Ala298GlyfsTer?) c.499dup (p.Ala167GlyfsTer?) c.802dup (p.Ala268GlyfsTer?) c.415dup (p.Ala139GlyfsTer?) c.*335dup (n.*335dup) n.267dup n.295dup n.418dup c.1036dup (p.Ala346GlyfsTer?) | dbSNP gnomAD v4 |
| 3 | g.33051906A>C | CA432959436 | GLB1 | c.891T>G (p.Leu297=) c.498T>G (p.Leu166=) c.801T>G (p.Leu267=) c.414T>G (p.Leu138=) c.*334T>G (n.*334T>G) n.266T>G n.294T>G n.417T>G c.1035T>G (p.Leu345=) | gnomAD v4 |
| 3 | g.33051906A>G | CA432959437 | GLB1 | c.891T>C (p.Leu297=) c.498T>C (p.Leu166=) c.801T>C (p.Leu267=) c.414T>C (p.Leu138=) c.*334T>C (n.*334T>C) n.266T>C n.294T>C n.417T>C c.1035T>C (p.Leu345=) | |
| 3 | g.33051906A>T | CA432959438 | GLB1 | c.891T>A (p.Leu297=) c.498T>A (p.Leu166=) c.801T>A (p.Leu267=) c.414T>A (p.Leu138=) c.*334T>A (n.*334T>A) n.266T>A n.294T>A n.417T>A c.1035T>A (p.Leu345=) | |
| 3 | g.33051907A>C | CA352001255 | GLB1 | c.890T>G (p.Leu297Arg) c.497T>G (p.Leu166Arg) c.800T>G (p.Leu267Arg) c.413T>G (p.Leu138Arg) c.*382T>G (n.*382T>G) c.*333T>G (n.*333T>G) n.265T>G n.293T>G n.416T>G c.1034T>G (p.Leu345Arg) | |
| 3 | g.33051907A>G | CA352001257 | GLB1 | c.890T>C (p.Leu297Pro) c.497T>C (p.Leu166Pro) c.800T>C (p.Leu267Pro) c.413T>C (p.Leu138Pro) c.*382T>C (n.*382T>C) c.*333T>C (n.*333T>C) n.265T>C n.293T>C n.416T>C c.1034T>C (p.Leu345Pro) | |
| 3 | g.33051907A>T | CA352001260 | GLB1 | c.890T>A (p.Leu297His) c.497T>A (p.Leu166His) c.800T>A (p.Leu267His) c.413T>A (p.Leu138His) c.*382T>A (n.*382T>A) c.*333T>A (n.*333T>A) n.265T>A n.293T>A n.416T>A c.1034T>A (p.Leu345His) | |
| 3 | g.33051908G>A | CA352001263 | GLB1 | c.889C>T (p.Leu297Phe) c.496C>T (p.Leu166Phe) c.799C>T (p.Leu267Phe) c.412C>T (p.Leu138Phe) c.*381C>T (n.*381C>T) c.*332C>T (n.*332C>T) n.264C>T n.292C>T n.415C>T c.1033C>T (p.Leu345Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.33051908G>C | CA352001265 | GLB1 | c.889C>G (p.Leu297Val) c.496C>G (p.Leu166Val) c.799C>G (p.Leu267Val) c.412C>G (p.Leu138Val) c.*381C>G (n.*381C>G) c.*332C>G (n.*332C>G) n.264C>G n.292C>G n.415C>G c.1033C>G (p.Leu345Val) | |
| 3 | g.33051908G= | CA1356001026 | GLB1 | c.889C= (p.Leu297=) c.496C= (p.Leu166=) c.799C= (p.Leu267=) c.412C= (p.Leu138=) c.*381C= (n.*381C=) c.*332C= (n.*332C=) n.264C= n.292C= n.415C= c.1033C= (p.Leu345=) | |
| 3 | g.33051908G>T | CA352001266 | GLB1 | c.889C>A (p.Leu297Ile) c.496C>A (p.Leu166Ile) c.799C>A (p.Leu267Ile) c.412C>A (p.Leu138Ile) c.*381C>A (n.*381C>A) c.*332C>A (n.*332C>A) n.264C>A n.292C>A n.415C>A c.1033C>A (p.Leu345Ile) | gnomAD v4 |
| 3 | g.33051909T>A | CA432959440 | GLB1 | c.888A>T (p.Ile296=) c.495A>T (p.Ile165=) c.798A>T (p.Ile266=) c.411A>T (p.Ile137=) c.*380A>T (n.*380A>T) c.*331A>T (n.*331A>T) n.263A>T n.291A>T n.414A>T c.1032A>T (p.Ile344=) | |
| 3 | g.33051909T>C | CA352001268 | GLB1 | c.888A>G (p.Ile296Met) c.495A>G (p.Ile165Met) c.798A>G (p.Ile266Met) c.411A>G (p.Ile137Met) c.*380A>G (n.*380A>G) c.*331A>G (n.*331A>G) n.263A>G n.291A>G n.414A>G c.1032A>G (p.Ile344Met) | dbSNP |
| 3 | g.33051909T>G | CA432959439 | GLB1 | c.888A>C (p.Ile296=) c.495A>C (p.Ile165=) c.798A>C (p.Ile266=) c.411A>C (p.Ile137=) c.*380A>C (n.*380A>C) c.*331A>C (n.*331A>C) n.263A>C n.291A>C n.414A>C c.1032A>C (p.Ile344=) | |
| 3 | g.33051909T= | CA1356001027 | GLB1 | c.888A= (p.Ile296=) c.495A= (p.Ile165=) c.798A= (p.Ile266=) c.411A= (p.Ile137=) c.*380A= (n.*380A=) c.*331A= (n.*331A=) n.263A= n.291A= n.414A= c.1032A= (p.Ile344=) | |
| 3 | g.33051910A>C | CA352001273 | GLB1 | c.887T>G (p.Ile296Arg) c.494T>G (p.Ile165Arg) c.797T>G (p.Ile266Arg) c.410T>G (p.Ile137Arg) c.*379T>G (n.*379T>G) c.*330T>G (n.*330T>G) n.262T>G n.290T>G n.413T>G c.1031T>G (p.Ile344Arg) | |
| 3 | g.33051910A>G | CA352001275 | GLB1 | c.887T>C (p.Ile296Thr) c.494T>C (p.Ile165Thr) c.797T>C (p.Ile266Thr) c.410T>C (p.Ile137Thr) c.*379T>C (n.*379T>C) c.*330T>C (n.*330T>C) n.262T>C n.290T>C n.413T>C c.1031T>C (p.Ile344Thr) | gnomAD v4 |
| 3 | g.33051910A>T | CA352001271 | GLB1 | c.887T>A (p.Ile296Lys) c.494T>A (p.Ile165Lys) c.797T>A (p.Ile266Lys) c.410T>A (p.Ile137Lys) c.*379T>A (n.*379T>A) c.*330T>A (n.*330T>A) n.262T>A n.290T>A n.413T>A c.1031T>A (p.Ile344Lys) | |
| 3 | g.33051911T>A | CA352001278 | GLB1 | c.886A>T (p.Ile296Leu) c.493A>T (p.Ile165Leu) c.796A>T (p.Ile266Leu) c.409A>T (p.Ile137Leu) c.*378A>T (n.*378A>T) c.*329A>T (n.*329A>T) n.261A>T n.289A>T n.412A>T c.1030A>T (p.Ile344Leu) | |
| 3 | g.33051911T>C | CA352001283 | GLB1 | c.886A>G (p.Ile296Val) c.493A>G (p.Ile165Val) c.796A>G (p.Ile266Val) c.409A>G (p.Ile137Val) c.*378A>G (n.*378A>G) c.*329A>G (n.*329A>G) n.261A>G n.289A>G n.412A>G c.1030A>G (p.Ile344Val) | |
| 3 | g.33051911T>G | CA352001280 | GLB1 | c.886A>C (p.Ile296Leu) c.493A>C (p.Ile165Leu) c.796A>C (p.Ile266Leu) c.409A>C (p.Ile137Leu) c.*378A>C (n.*378A>C) c.*329A>C (n.*329A>C) n.261A>C n.289A>C n.412A>C c.1030A>C (p.Ile344Leu) | |
| 3 | g.33051912A>C | CA352001285 | GLB1 | c.885T>G (p.Asp295Glu) c.492T>G (p.Asp164Glu) c.795T>G (p.Asp265Glu) c.408T>G (p.Asp136Glu) c.*377T>G (n.*377T>G) c.*328T>G (n.*328T>G) n.260T>G n.288T>G n.411T>G c.1029T>G (p.Asp343Glu) | |
| 3 | g.33051912A>G | CA432959441 | GLB1 | c.885T>C (p.Asp295=) c.492T>C (p.Asp164=) c.795T>C (p.Asp265=) c.408T>C (p.Asp136=) c.*377T>C (n.*377T>C) c.*328T>C (n.*328T>C) n.260T>C n.288T>C n.411T>C c.1029T>C (p.Asp343=) | |
| 3 | g.33051912A>T | CA352001286 | GLB1 | c.885T>A (p.Asp295Glu) c.492T>A (p.Asp164Glu) c.795T>A (p.Asp265Glu) c.408T>A (p.Asp136Glu) c.*377T>A (n.*377T>A) c.*328T>A (n.*328T>A) n.260T>A n.288T>A n.411T>A c.1029T>A (p.Asp343Glu) | |
| 3 | g.33051913T>A | CA352001288 | GLB1 | c.884A>T (p.Asp295Val) c.491A>T (p.Asp164Val) c.794A>T (p.Asp265Val) c.407A>T (p.Asp136Val) c.*376A>T (n.*376A>T) c.*327A>T (n.*327A>T) n.259A>T n.287A>T n.410A>T c.1028A>T (p.Asp343Val) | gnomAD v4 |
| 3 | g.33051913T>C | CA2299572 | GLB1 | c.884A>G (p.Asp295Gly) c.491A>G (p.Asp164Gly) c.794A>G (p.Asp265Gly) c.407A>G (p.Asp136Gly) c.*376A>G (n.*376A>G) c.*327A>G (n.*327A>G) n.259A>G n.287A>G n.410A>G c.1028A>G (p.Asp343Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.33051913T>G | CA352001291 | GLB1 | c.884A>C (p.Asp295Ala) c.491A>C (p.Asp164Ala) c.794A>C (p.Asp265Ala) c.407A>C (p.Asp136Ala) c.*376A>C (n.*376A>C) c.*327A>C (n.*327A>C) n.259A>C n.287A>C n.410A>C c.1028A>C (p.Asp343Ala) | |
| 3 | g.33051913T= | CA1356001028 | GLB1 | c.884A= (p.Asp295=) c.491A= (p.Asp164=) c.794A= (p.Asp265=) c.407A= (p.Asp136=) c.*376A= (n.*376A=) c.*327A= (n.*327A=) n.259A= n.287A= n.410A= c.1028A= (p.Asp343=) | |
| 3 | g.33051914C>A | CA352001292 | GLB1 | c.883G>T (p.Asp295Tyr) c.490G>T (p.Asp164Tyr) c.793G>T (p.Asp265Tyr) c.406G>T (p.Asp136Tyr) c.*375G>T (n.*375G>T) c.*326G>T (n.*326G>T) n.258G>T n.286G>T n.409G>T c.1027G>T (p.Asp343Tyr) | |
| 3 | g.33051914C>G | CA352001295 | GLB1 | c.883G>C (p.Asp295His) c.490G>C (p.Asp164His) c.793G>C (p.Asp265His) c.406G>C (p.Asp136His) c.*375G>C (n.*375G>C) c.*326G>C (n.*326G>C) n.258G>C n.286G>C n.409G>C c.1027G>C (p.Asp343His) | |
| 3 | g.33051914C>T | CA352001297 | GLB1 | c.883G>A (p.Asp295Asn) c.490G>A (p.Asp164Asn) c.793G>A (p.Asp265Asn) c.406G>A (p.Asp136Asn) c.*375G>A (n.*375G>A) c.*326G>A (n.*326G>A) n.258G>A n.286G>A n.409G>A c.1027G>A (p.Asp343Asn) | |
| 3 | g.33051914_33051916delinsCAT | CA1356001029 | GLB1 | c.881_883delinsATG (p.Tyr294=) c.488_490delinsATG (p.Tyr163=) c.791_793delinsATG (p.Tyr264=) c.404_406delinsATG (p.Tyr135=) c.*373_*375delinsATG (n.*373_*375delinsATG) c.*324_*326delinsATG (n.*324_*326delinsATG) n.256_258delinsATG n.284_286delinsATG n.407_409delinsATG c.1025_1027delinsATG (p.Tyr342=) | |
| 3 | g.33051915A>C | CA352001300 | GLB1 | c.882T>G (p.Tyr294Ter) c.489T>G (p.Tyr163Ter) c.792T>G (p.Tyr264Ter) c.405T>G (p.Tyr135Ter) c.*374T>G (n.*374T>G) c.*325T>G (n.*325T>G) n.257T>G n.285T>G n.408T>G c.1026T>G (p.Tyr342Ter) | gnomAD v4 |
| 3 | g.33051915A>G | CA432959442 | GLB1 | c.882T>C (p.Tyr294=) c.489T>C (p.Tyr163=) c.792T>C (p.Tyr264=) c.405T>C (p.Tyr135=) c.*374T>C (n.*374T>C) c.*325T>C (n.*325T>C) n.257T>C n.285T>C n.408T>C c.1026T>C (p.Tyr342=) | ClinVar |
| 3 | g.33051915A>T | CA352001302 | GLB1 | c.882T>A (p.Tyr294Ter) c.489T>A (p.Tyr163Ter) c.792T>A (p.Tyr264Ter) c.405T>A (p.Tyr135Ter) c.*374T>A (n.*374T>A) c.*325T>A (n.*325T>A) n.257T>A n.285T>A n.408T>A c.1026T>A (p.Tyr342Ter) | |
| 3 | g.33051916_33051917dup | CA1356001030 | GLB1 | c.881_882dup (p.Asp295MetfsTer10) c.488_489dup (p.Asp164MetfsTer10) c.791_792dup (p.Asp265MetfsTer10) c.404_405dup (p.Asp136MetfsTer10) c.*373_*374dup (n.*373_*374dup) c.*324_*325dup (n.*324_*325dup) n.256_257dup n.284_285dup n.407_408dup c.1025_1026dup (p.Asp343MetfsTer10) | dbSNP |
| 3 | g.33051916_33051917del | CA2299573 | GLB1 | c.881_882del (p.Tyr294Ter) c.488_489del (p.Tyr163Ter) c.791_792del (p.Tyr264Ter) c.404_405del (p.Tyr135Ter) c.*373_*374del (n.*373_*374del) c.*324_*325del (n.*324_*325del) n.256_257del n.284_285del n.407_408del c.1025_1026del (p.Tyr342Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.33051916T>A | CA352001309 | GLB1 | c.881A>T (p.Tyr294Phe) c.488A>T (p.Tyr163Phe) c.791A>T (p.Tyr264Phe) c.404A>T (p.Tyr135Phe) c.*373A>T (n.*373A>T) c.*324A>T (n.*324A>T) n.256A>T n.284A>T n.407A>T c.1025A>T (p.Tyr342Phe) | |
| 3 | g.33051916T>C | CA72667925 | GLB1 | c.881A>G (p.Tyr294Cys) c.488A>G (p.Tyr163Cys) c.791A>G (p.Tyr264Cys) c.404A>G (p.Tyr135Cys) c.*373A>G (n.*373A>G) c.*324A>G (n.*324A>G) n.256A>G n.284A>G n.407A>G c.1025A>G (p.Tyr342Cys) | dbSNP gnomAD v4 |
| 3 | g.33051916T>G | CA352001307 | GLB1 | c.881A>C (p.Tyr294Ser) c.488A>C (p.Tyr163Ser) c.791A>C (p.Tyr264Ser) c.404A>C (p.Tyr135Ser) c.*373A>C (n.*373A>C) c.*324A>C (n.*324A>C) n.256A>C n.284A>C n.407A>C c.1025A>C (p.Tyr342Ser) | |
| 3 | g.33051916T= | CA1356001031 | GLB1 | c.881A= (p.Tyr294=) c.488A= (p.Tyr163=) c.791A= (p.Tyr264=) c.404A= (p.Tyr135=) c.*373A= (n.*373A=) c.*324A= (n.*324A=) n.256A= n.284A= n.407A= c.1025A= (p.Tyr342=) | |
| 3 | g.33051917A>C | CA352001311 | GLB1 | c.880T>G (p.Tyr294Asp) c.487T>G (p.Tyr163Asp) c.790T>G (p.Tyr264Asp) c.403T>G (p.Tyr135Asp) c.*372T>G (n.*372T>G) c.*323T>G (n.*323T>G) n.255T>G n.283T>G n.406T>G c.1024T>G (p.Tyr342Asp) | |
| 3 | g.33051917A>G | CA352001313 | GLB1 | c.880T>C (p.Tyr294His) c.487T>C (p.Tyr163His) c.790T>C (p.Tyr264His) c.403T>C (p.Tyr135His) c.*372T>C (n.*372T>C) c.*323T>C (n.*323T>C) n.255T>C n.283T>C n.406T>C c.1024T>C (p.Tyr342His) | gnomAD v4 |
| 3 | g.33051917A>T | CA352001316 | GLB1 | c.880T>A (p.Tyr294Asn) c.487T>A (p.Tyr163Asn) c.790T>A (p.Tyr264Asn) c.403T>A (p.Tyr135Asn) c.*372T>A (n.*372T>A) c.*323T>A (n.*323T>A) n.255T>A n.283T>A n.406T>A c.1024T>A (p.Tyr342Asn) | |
| 3 | g.33051918G>A | CA432959444 | GLB1 | c.879C>T (p.Leu293=) c.486C>T (p.Leu162=) c.789C>T (p.Leu263=) c.402C>T (p.Leu134=) c.*371C>T (n.*371C>T) c.*322C>T (n.*322C>T) n.254C>T n.282C>T n.405C>T c.1023C>T (p.Leu341=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.33051918G>C | CA432959445 | GLB1 | c.879C>G (p.Leu293=) c.486C>G (p.Leu162=) c.789C>G (p.Leu263=) c.402C>G (p.Leu134=) c.*371C>G (n.*371C>G) c.*322C>G (n.*322C>G) n.254C>G n.282C>G n.405C>G c.1023C>G (p.Leu341=) | ClinVar gnomAD v4 |
| 3 | g.33051918G= | CA1356001032 | GLB1 | c.879C= (p.Leu293=) c.486C= (p.Leu162=) c.789C= (p.Leu263=) c.402C= (p.Leu134=) c.*371C= (n.*371C=) c.*322C= (n.*322C=) n.254C= n.282C= n.405C= c.1023C= (p.Leu341=) | |
| 3 | g.33051918G>T | CA432959446 | GLB1 | c.879C>A (p.Leu293=) c.486C>A (p.Leu162=) c.789C>A (p.Leu263=) c.402C>A (p.Leu134=) c.*371C>A (n.*371C>A) c.*322C>A (n.*322C>A) n.254C>A n.282C>A n.405C>A c.1023C>A (p.Leu341=) | |
| 3 | g.33051919A>C | CA352001319 | GLB1 | c.878T>G (p.Leu293Arg) c.485T>G (p.Leu162Arg) c.788T>G (p.Leu263Arg) c.401T>G (p.Leu134Arg) c.*370T>G (n.*370T>G) c.*321T>G (n.*321T>G) n.253T>G n.281T>G n.404T>G c.1022T>G (p.Leu341Arg) | |
| 3 | g.33051919A>G | CA352001320 | GLB1 | c.878T>C (p.Leu293Pro) c.485T>C (p.Leu162Pro) c.788T>C (p.Leu263Pro) c.401T>C (p.Leu134Pro) c.*370T>C (n.*370T>C) c.*321T>C (n.*321T>C) n.253T>C n.281T>C n.404T>C c.1022T>C (p.Leu341Pro) | |
| 3 | g.33051919A>T | CA352001321 | GLB1 | c.878T>A (p.Leu293His) c.485T>A (p.Leu162His) c.788T>A (p.Leu263His) c.401T>A (p.Leu134His) c.*370T>A (n.*370T>A) c.*321T>A (n.*321T>A) n.253T>A n.281T>A n.404T>A c.1022T>A (p.Leu341His) | |
| 3 | g.33051920G>A | CA352001325 | GLB1 | c.877C>T (p.Leu293Phe) c.484C>T (p.Leu162Phe) c.787C>T (p.Leu263Phe) c.400C>T (p.Leu134Phe) c.*369C>T (n.*369C>T) c.*320C>T (n.*320C>T) n.252C>T n.280C>T n.403C>T c.1021C>T (p.Leu341Phe) | gnomAD v4 |
| 3 | g.33051920G>C | CA352001327 | GLB1 | c.877C>G (p.Leu293Val) c.484C>G (p.Leu162Val) c.787C>G (p.Leu263Val) c.400C>G (p.Leu134Val) c.*369C>G (n.*369C>G) c.*320C>G (n.*320C>G) n.252C>G n.280C>G n.403C>G c.1021C>G (p.Leu341Val) | |
| 3 | g.33051920G>T | CA352001329 | GLB1 | c.877C>A (p.Leu293Ile) c.484C>A (p.Leu162Ile) c.787C>A (p.Leu263Ile) c.400C>A (p.Leu134Ile) c.*369C>A (n.*369C>A) c.*320C>A (n.*320C>A) n.252C>A n.280C>A n.403C>A c.1021C>A (p.Leu341Ile) | |
| 3 | g.33051921G>A | CA432959447 | GLB1 | c.876C>T (p.Ser292=) c.483C>T (p.Ser161=) c.786C>T (p.Ser262=) c.399C>T (p.Ser133=) c.*368C>T (n.*368C>T) c.*319C>T (n.*319C>T) n.251C>T n.279C>T n.402C>T c.1020C>T (p.Ser340=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.33051921G>C | CA432959448 | GLB1 | c.876C>G (p.Ser292=) c.483C>G (p.Ser161=) c.786C>G (p.Ser262=) c.399C>G (p.Ser133=) c.*368C>G (n.*368C>G) c.*319C>G (n.*319C>G) n.251C>G n.279C>G n.402C>G c.1020C>G (p.Ser340=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.33051921G= | CA1356001033 | GLB1 | c.876C= (p.Ser292=) c.483C= (p.Ser161=) c.786C= (p.Ser262=) c.399C= (p.Ser133=) c.*368C= (n.*368C=) c.*319C= (n.*319C=) n.251C= n.279C= n.402C= c.1020C= (p.Ser340=) | |
| 3 | g.33051921G>T | CA432959449 | GLB1 | c.876C>A (p.Ser292=) c.483C>A (p.Ser161=) c.786C>A (p.Ser262=) c.399C>A (p.Ser133=) c.*368C>A (n.*368C>A) c.*319C>A (n.*319C>A) n.251C>A n.279C>A n.402C>A c.1020C>A (p.Ser340=) | |
| 3 | g.33051922G>A | CA352001332 | GLB1 | c.875C>T (p.Ser292Phe) c.482C>T (p.Ser161Phe) c.785C>T (p.Ser262Phe) c.398C>T (p.Ser133Phe) c.*367C>T (n.*367C>T) c.*318C>T (n.*318C>T) n.250C>T n.278C>T n.401C>T c.1019C>T (p.Ser340Phe) | |
| 3 | g.33051922G>C | CA2299574 | GLB1 | c.875C>G (p.Ser292Cys) c.482C>G (p.Ser161Cys) c.785C>G (p.Ser262Cys) c.398C>G (p.Ser133Cys) c.*367C>G (n.*367C>G) c.*318C>G (n.*318C>G) n.250C>G n.278C>G n.401C>G c.1019C>G (p.Ser340Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.33051922G= | CA1356001034 | GLB1 | c.875C= (p.Ser292=) c.482C= (p.Ser161=) c.785C= (p.Ser262=) c.398C= (p.Ser133=) c.*367C= (n.*367C=) c.*318C= (n.*318C=) n.250C= n.278C= n.401C= c.1019C= (p.Ser340=) | |
| 3 | g.33051922G>T | CA352001336 | GLB1 | c.875C>A (p.Ser292Tyr) c.482C>A (p.Ser161Tyr) c.785C>A (p.Ser262Tyr) c.398C>A (p.Ser133Tyr) c.*367C>A (n.*367C>A) c.*318C>A (n.*318C>A) n.250C>A n.278C>A n.401C>A c.1019C>A (p.Ser340Tyr) | |
| 3 | g.33051923A>C | CA352001341 | GLB1 | c.874T>G (p.Ser292Ala) c.481T>G (p.Ser161Ala) c.784T>G (p.Ser262Ala) c.397T>G (p.Ser133Ala) c.*366T>G (n.*366T>G) c.*317T>G (n.*317T>G) n.249T>G n.277T>G n.400T>G c.1018T>G (p.Ser340Ala) | |
| 3 | g.33051923A>G | CA352001340 | GLB1 | c.874T>C (p.Ser292Pro) c.481T>C (p.Ser161Pro) c.784T>C (p.Ser262Pro) c.397T>C (p.Ser133Pro) c.*366T>C (n.*366T>C) c.*317T>C (n.*317T>C) n.249T>C n.277T>C n.400T>C c.1018T>C (p.Ser340Pro) | |
| 3 | g.33051923A>T | CA352001338 | GLB1 | c.874T>A (p.Ser292Thr) c.481T>A (p.Ser161Thr) c.784T>A (p.Ser262Thr) c.397T>A (p.Ser133Thr) c.*366T>A (n.*366T>A) c.*317T>A (n.*317T>A) n.249T>A n.277T>A n.400T>A c.1018T>A (p.Ser340Thr) | |
| 3 | g.33051924G>A | CA2299575 | GLB1 | c.873C>T (p.Ser291=) c.480C>T (p.Ser160=) c.783C>T (p.Ser261=) c.396C>T (p.Ser132=) c.*365C>T (n.*365C>T) c.*316C>T (n.*316C>T) n.248C>T n.276C>T n.399C>T c.1017C>T (p.Ser339=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.33051924G>C | CA432959450 | GLB1 | c.873C>G (p.Ser291=) c.480C>G (p.Ser160=) c.783C>G (p.Ser261=) c.396C>G (p.Ser132=) c.*365C>G (n.*365C>G) c.*316C>G (n.*316C>G) n.248C>G n.276C>G n.399C>G c.1017C>G (p.Ser339=) | gnomAD v4 |
| 3 | g.33051924G= | CA1356001035 | GLB1 | c.873C= (p.Ser291=) c.480C= (p.Ser160=) c.783C= (p.Ser261=) c.396C= (p.Ser132=) c.*365C= (n.*365C=) c.*316C= (n.*316C=) n.248C= n.276C= n.399C= c.1017C= (p.Ser339=) | |
| 3 | g.33051924G>T | CA432959451 | GLB1 | c.873C>A (p.Ser291=) c.480C>A (p.Ser160=) c.783C>A (p.Ser261=) c.396C>A (p.Ser132=) c.*365C>A (n.*365C>A) c.*316C>A (n.*316C>A) n.248C>A n.276C>A n.399C>A c.1017C>A (p.Ser339=) | |
| 3 | g.33051925G>A | CA352001345 | GLB1 | c.872C>T (p.Ser291Phe) c.479C>T (p.Ser160Phe) c.782C>T (p.Ser261Phe) c.395C>T (p.Ser132Phe) c.*364C>T (n.*364C>T) c.*315C>T (n.*315C>T) n.247C>T n.275C>T n.398C>T c.1016C>T (p.Ser339Phe) | dbSNP gnomAD v2 |
| 3 | g.33051925G>C | CA352001347 | GLB1 | c.872C>G (p.Ser291Cys) c.479C>G (p.Ser160Cys) c.782C>G (p.Ser261Cys) c.395C>G (p.Ser132Cys) c.*364C>G (n.*364C>G) c.*315C>G (n.*315C>G) n.247C>G n.275C>G n.398C>G c.1016C>G (p.Ser339Cys) | |
| 3 | g.33051925G= | CA1356001036 | GLB1 | c.872C= (p.Ser291=) c.479C= (p.Ser160=) c.782C= (p.Ser261=) c.395C= (p.Ser132=) c.*364C= (n.*364C=) c.*315C= (n.*315C=) n.247C= n.275C= n.398C= c.1016C= (p.Ser339=) | |
| 3 | g.33051925G>T | CA352001349 | GLB1 | c.872C>A (p.Ser291Tyr) c.479C>A (p.Ser160Tyr) c.782C>A (p.Ser261Tyr) c.395C>A (p.Ser132Tyr) c.*364C>A (n.*364C>A) c.*315C>A (n.*315C>A) n.247C>A n.275C>A n.398C>A c.1016C>A (p.Ser339Tyr) | |
| 3 | g.33051926A>C | CA352001350 | GLB1 | c.871T>G (p.Ser291Ala) c.478T>G (p.Ser160Ala) c.781T>G (p.Ser261Ala) c.394T>G (p.Ser132Ala) c.*363T>G (n.*363T>G) c.*314T>G (n.*314T>G) n.246T>G n.274T>G n.397T>G c.1015T>G (p.Ser339Ala) | |
| 3 | g.33051926A>G | CA352001351 | GLB1 | c.871T>C (p.Ser291Pro) c.478T>C (p.Ser160Pro) c.781T>C (p.Ser261Pro) c.394T>C (p.Ser132Pro) c.*363T>C (n.*363T>C) c.*314T>C (n.*314T>C) n.246T>C n.274T>C n.397T>C c.1015T>C (p.Ser339Pro) | |
| 3 | g.33051926A>T | CA352001353 | GLB1 | c.871T>A (p.Ser291Thr) c.478T>A (p.Ser160Thr) c.781T>A (p.Ser261Thr) c.394T>A (p.Ser132Thr) c.*363T>A (n.*363T>A) c.*314T>A (n.*314T>A) n.246T>A n.274T>A n.397T>A c.1015T>A (p.Ser339Thr) | |
| 3 | g.33051927A>C | CA432959452 | GLB1 | c.870T>G (p.Ala290=) c.477T>G (p.Ala159=) c.780T>G (p.Ala260=) c.393T>G (p.Ala131=) c.*362T>G (n.*362T>G) c.*313T>G (n.*313T>G) n.245T>G n.273T>G n.396T>G c.1014T>G (p.Ala338=) | |
| 3 | g.33051927A>G | CA432959453 | GLB1 | c.870T>C (p.Ala290=) c.477T>C (p.Ala159=) c.780T>C (p.Ala260=) c.393T>C (p.Ala131=) c.*362T>C (n.*362T>C) c.*313T>C (n.*313T>C) n.245T>C n.273T>C n.396T>C c.1014T>C (p.Ala338=) | gnomAD v4 |
| 3 | g.33051927A>T | CA432959454 | GLB1 | c.870T>A (p.Ala290=) c.477T>A (p.Ala159=) c.780T>A (p.Ala260=) c.393T>A (p.Ala131=) c.*362T>A (n.*362T>A) c.*313T>A (n.*313T>A) n.245T>A n.273T>A n.396T>A c.1014T>A (p.Ala338=) | |
| 3 | g.33051928G>A | CA352001355 | GLB1 | c.869C>T (p.Ala290Val) c.476C>T (p.Ala159Val) c.779C>T (p.Ala260Val) c.392C>T (p.Ala131Val) c.*361C>T (n.*361C>T) c.*312C>T (n.*312C>T) n.244C>T n.272C>T n.395C>T c.1013C>T (p.Ala338Val) | dbSNP |
| 3 | g.33051928G>C | CA352001356 | GLB1 | c.869C>G (p.Ala290Gly) c.476C>G (p.Ala159Gly) c.779C>G (p.Ala260Gly) c.392C>G (p.Ala131Gly) c.*361C>G (n.*361C>G) c.*312C>G (n.*312C>G) n.244C>G n.272C>G n.395C>G c.1013C>G (p.Ala338Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.33051928G= | CA1356001037 | GLB1 | c.869C= (p.Ala290=) c.476C= (p.Ala159=) c.779C= (p.Ala260=) c.392C= (p.Ala131=) c.*361C= (n.*361C=) c.*312C= (n.*312C=) n.244C= n.272C= n.395C= c.1013C= (p.Ala338=) | |
| 3 | g.33051928G>T | CA352001358 | GLB1 | c.869C>A (p.Ala290Asp) c.476C>A (p.Ala159Asp) c.779C>A (p.Ala260Asp) c.392C>A (p.Ala131Asp) c.*361C>A (n.*361C>A) c.*312C>A (n.*312C>A) n.244C>A n.272C>A n.395C>A c.1013C>A (p.Ala338Asp) | |
| 3 | g.33051929C>A | CA352001362 | GLB1 | c.868G>T (p.Ala290Ser) c.475G>T (p.Ala159Ser) c.778G>T (p.Ala260Ser) c.391G>T (p.Ala131Ser) c.*360G>T (n.*360G>T) c.*311G>T (n.*311G>T) n.243G>T n.271G>T n.394G>T c.1012G>T (p.Ala338Ser) | |
| 3 | g.33051929C>G | CA352001364 | GLB1 | c.868G>C (p.Ala290Pro) c.475G>C (p.Ala159Pro) c.778G>C (p.Ala260Pro) c.391G>C (p.Ala131Pro) c.*360G>C (n.*360G>C) c.*311G>C (n.*311G>C) n.243G>C n.271G>C n.394G>C c.1012G>C (p.Ala338Pro) | |
| 3 | g.33051929C>T | CA352001365 | GLB1 | c.868G>A (p.Ala290Thr) c.475G>A (p.Ala159Thr) c.778G>A (p.Ala260Thr) c.391G>A (p.Ala131Thr) c.*360G>A (n.*360G>A) c.*311G>A (n.*311G>A) n.243G>A n.271G>A n.394G>A c.1012G>A (p.Ala338Thr) | |
| 3 | g.33051930C>A | CA432959457 | GLB1 | c.867G>T (p.Val289=) c.474G>T (p.Val158=) c.777G>T (p.Val259=) c.390G>T (p.Val130=) c.*359G>T (n.*359G>T) c.*310G>T (n.*310G>T) n.242G>T n.270G>T n.393G>T c.1011G>T (p.Val337=) | |
| 3 | g.33051930C>G | CA432959456 | GLB1 | c.867G>C (p.Val289=) c.474G>C (p.Val158=) c.777G>C (p.Val259=) c.390G>C (p.Val130=) c.*359G>C (n.*359G>C) c.*310G>C (n.*310G>C) n.242G>C n.270G>C n.393G>C c.1011G>C (p.Val337=) | |
| 3 | g.33051930C>T | CA432959455 | GLB1 | c.867G>A (p.Val289=) c.474G>A (p.Val158=) c.777G>A (p.Val259=) c.390G>A (p.Val130=) c.*359G>A (n.*359G>A) c.*310G>A (n.*310G>A) n.242G>A n.270G>A n.393G>A c.1011G>A (p.Val337=) | gnomAD v4 |
| 3 | g.33051931A= | CA1356001038 | GLB1 | c.866T= (p.Val289=) c.473T= (p.Val158=) c.776T= (p.Val259=) c.389T= (p.Val130=) c.*358T= (n.*358T=) c.*309T= (n.*309T=) n.241T= n.269T= n.392T= c.1010T= (p.Val337=) | |
| 3 | g.33051931A>C | CA352001371 | GLB1 | c.866T>G (p.Val289Gly) c.473T>G (p.Val158Gly) c.776T>G (p.Val259Gly) c.389T>G (p.Val130Gly) c.*358T>G (n.*358T>G) c.*309T>G (n.*309T>G) n.241T>G n.269T>G n.392T>G c.1010T>G (p.Val337Gly) | |
| 3 | g.33051931A>G | CA352001373 | GLB1 | c.866T>C (p.Val289Ala) c.473T>C (p.Val158Ala) c.776T>C (p.Val259Ala) c.389T>C (p.Val130Ala) c.*358T>C (n.*358T>C) c.*309T>C (n.*309T>C) n.241T>C n.269T>C n.392T>C c.1010T>C (p.Val337Ala) | dbSNP gnomAD v4 |
| 3 | g.33051931A>T | CA352001369 | GLB1 | c.866T>A (p.Val289Glu) c.473T>A (p.Val158Glu) c.776T>A (p.Val259Glu) c.389T>A (p.Val130Glu) c.*358T>A (n.*358T>A) c.*309T>A (n.*309T>A) n.241T>A n.269T>A n.392T>A c.1010T>A (p.Val337Glu) | |
| 3 | g.33051932C>A | CA352001376 | GLB1 | c.865G>T (p.Val289Leu) c.472G>T (p.Val158Leu) c.775G>T (p.Val259Leu) c.388G>T (p.Val130Leu) c.*357G>T (n.*357G>T) c.*308G>T (n.*308G>T) n.240G>T n.268G>T n.391G>T c.1009G>T (p.Val337Leu) | |
| 3 | g.33051932C>G | CA352001378 | GLB1 | c.865G>C (p.Val289Leu) c.472G>C (p.Val158Leu) c.775G>C (p.Val259Leu) c.388G>C (p.Val130Leu) c.*357G>C (n.*357G>C) c.*308G>C (n.*308G>C) n.240G>C n.268G>C n.391G>C c.1009G>C (p.Val337Leu) | |
| 3 | g.33051932C>T | CA352001380 | GLB1 | c.865G>A (p.Val289Met) c.472G>A (p.Val158Met) c.775G>A (p.Val259Met) c.388G>A (p.Val130Met) c.*357G>A (n.*357G>A) c.*308G>A (n.*308G>A) n.240G>A n.268G>A n.391G>A c.1009G>A (p.Val337Met) | |
| 3 | g.33051933T>A | CA432959460 | GLB1 | c.864A>T (p.Ala288=) c.471A>T (p.Ala157=) c.774A>T (p.Ala258=) c.387A>T (p.Ala129=) c.*356A>T (n.*356A>T) c.*307A>T (n.*307A>T) n.239A>T n.267A>T n.390A>T c.1008A>T (p.Ala336=) | |
| 3 | g.33051933T>C | CA432959459 | GLB1 | c.864A>G (p.Ala288=) c.471A>G (p.Ala157=) c.774A>G (p.Ala258=) c.387A>G (p.Ala129=) c.*356A>G (n.*356A>G) c.*307A>G (n.*307A>G) n.239A>G n.267A>G n.390A>G c.1008A>G (p.Ala336=) | |
| 3 | g.33051933T>G | CA432959458 | GLB1 | c.864A>C (p.Ala288=) c.471A>C (p.Ala157=) c.774A>C (p.Ala258=) c.387A>C (p.Ala129=) c.*356A>C (n.*356A>C) c.*307A>C (n.*307A>C) n.239A>C n.267A>C n.390A>C c.1008A>C (p.Ala336=) | |
| 3 | g.33051934G>A | CA352001382 | GLB1 | c.863C>T (p.Ala288Val) c.470C>T (p.Ala157Val) c.773C>T (p.Ala258Val) c.386C>T (p.Ala129Val) c.*355C>T (n.*355C>T) c.*306C>T (n.*306C>T) n.238C>T n.266C>T n.389C>T c.1007C>T (p.Ala336Val) | gnomAD v4 |
| 3 | g.33051934G>C | CA352001384 | GLB1 | c.863C>G (p.Ala288Gly) c.470C>G (p.Ala157Gly) c.773C>G (p.Ala258Gly) c.386C>G (p.Ala129Gly) c.*355C>G (n.*355C>G) c.*306C>G (n.*306C>G) n.238C>G n.266C>G n.389C>G c.1007C>G (p.Ala336Gly) | gnomAD v4 |
| 3 | g.33051934G>T | CA352001387 | GLB1 | c.863C>A (p.Ala288Glu) c.470C>A (p.Ala157Glu) c.773C>A (p.Ala258Glu) c.386C>A (p.Ala129Glu) c.*355C>A (n.*355C>A) c.*306C>A (n.*306C>A) n.238C>A n.266C>A n.389C>A c.1007C>A (p.Ala336Glu) | |
| 3 | g.33051935C>A | CA352001389 | GLB1 | c.862G>T (p.Ala288Ser) c.469G>T (p.Ala157Ser) c.772G>T (p.Ala258Ser) c.385G>T (p.Ala129Ser) c.*354G>T (n.*354G>T) c.*305G>T (n.*305G>T) n.237G>T n.265G>T n.388G>T c.1006G>T (p.Ala336Ser) | gnomAD v4 |
| 3 | g.33051935C= | CA1356001039 | GLB1 | c.862G= (p.Ala288=) c.469G= (p.Ala157=) c.772G= (p.Ala258=) c.385G= (p.Ala129=) c.*354G= (n.*354G=) c.*305G= (n.*305G=) n.237G= n.265G= n.388G= c.1006G= (p.Ala336=) | |
| 3 | g.33051935C>G | CA352001392 | GLB1 | c.862G>C (p.Ala288Pro) c.469G>C (p.Ala157Pro) c.772G>C (p.Ala258Pro) c.385G>C (p.Ala129Pro) c.*354G>C (n.*354G>C) c.*305G>C (n.*305G>C) n.237G>C n.265G>C n.388G>C c.1006G>C (p.Ala336Pro) | |
| 3 | g.33051935C>T | CA2299576 | GLB1 | c.862G>A (p.Ala288Thr) c.469G>A (p.Ala157Thr) c.772G>A (p.Ala258Thr) c.385G>A (p.Ala129Thr) c.*354G>A (n.*354G>A) c.*305G>A (n.*305G>A) n.237G>A n.265G>A n.388G>A c.1006G>A (p.Ala336Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.33051938_33051944del | CA2586971848 | GLB1 | c.856_862del (p.Thr286GlnfsTer16) c.463_469del (p.Thr155GlnfsTer16) c.766_772del (p.Thr256GlnfsTer16) c.379_385del (p.Thr127GlnfsTer16) c.*348_*354del (n.*348_*354del) c.*299_*305del (n.*299_*305del) n.231_237del n.259_265del n.382_388del c.1000_1006del (p.Thr334GlnfsTer16) | |
| 3 | g.33051936T>A | CA352001395 | GLB1 | c.861A>T (p.Glu287Asp) c.468A>T (p.Glu156Asp) c.771A>T (p.Glu257Asp) c.384A>T (p.Glu128Asp) c.*353A>T (n.*353A>T) c.*304A>T (n.*304A>T) n.236A>T n.264A>T n.387A>T c.1005A>T (p.Glu335Asp) | |
| 3 | g.33051936T>C | CA432959461 | GLB1 | c.861A>G (p.Glu287=) c.468A>G (p.Glu156=) c.771A>G (p.Glu257=) c.384A>G (p.Glu128=) c.*353A>G (n.*353A>G) c.*304A>G (n.*304A>G) n.236A>G n.264A>G n.387A>G c.1005A>G (p.Glu335=) | |
| 3 | g.33051936T>G | CA352001397 | GLB1 | c.861A>C (p.Glu287Asp) c.468A>C (p.Glu156Asp) c.771A>C (p.Glu257Asp) c.384A>C (p.Glu128Asp) c.*353A>C (n.*353A>C) c.*304A>C (n.*304A>C) n.236A>C n.264A>C n.387A>C c.1005A>C (p.Glu335Asp) | |
| 3 | g.33051937T>A | CA352001400 | GLB1 | c.860A>T (p.Glu287Val) c.467A>T (p.Glu156Val) c.770A>T (p.Glu257Val) c.383A>T (p.Glu128Val) c.*352A>T (n.*352A>T) c.*303A>T (n.*303A>T) n.235A>T n.263A>T n.386A>T c.1004A>T (p.Glu335Val) | |
| 3 | g.33051937T>C | CA352001401 | GLB1 | c.860A>G (p.Glu287Gly) c.467A>G (p.Glu156Gly) c.770A>G (p.Glu257Gly) c.383A>G (p.Glu128Gly) c.*352A>G (n.*352A>G) c.*303A>G (n.*303A>G) n.235A>G n.263A>G n.386A>G c.1004A>G (p.Glu335Gly) | |
| 3 | g.33051937T>G | CA352001403 | GLB1 | c.860A>C (p.Glu287Ala) c.467A>C (p.Glu156Ala) c.770A>C (p.Glu257Ala) c.383A>C (p.Glu128Ala) c.*352A>C (n.*352A>C) c.*303A>C (n.*303A>C) n.235A>C n.263A>C n.386A>C c.1004A>C (p.Glu335Ala) | |
| 3 | g.33051938C>A | CA352001404 | GLB1 | c.859G>T (p.Glu287Ter) c.466G>T (p.Glu156Ter) c.769G>T (p.Glu257Ter) c.382G>T (p.Glu128Ter) c.*351G>T (n.*351G>T) c.*302G>T (n.*302G>T) n.234G>T n.262G>T n.385G>T c.1003G>T (p.Glu335Ter) | |
| 3 | g.33051938C= | CA1356001040 | GLB1 | c.859G= (p.Glu287=) c.466G= (p.Glu156=) c.769G= (p.Glu257=) c.382G= (p.Glu128=) c.*351G= (n.*351G=) c.*302G= (n.*302G=) n.234G= n.262G= n.385G= c.1003G= (p.Glu335=) | |
| 3 | g.33051938C>G | CA352001405 | GLB1 | c.859G>C (p.Glu287Gln) c.466G>C (p.Glu156Gln) c.769G>C (p.Glu257Gln) c.382G>C (p.Glu128Gln) c.*351G>C (n.*351G>C) c.*302G>C (n.*302G>C) n.234G>C n.262G>C n.385G>C c.1003G>C (p.Glu335Gln) | |
| 3 | g.33051938C>T | CA2299577 | GLB1 | c.859G>A (p.Glu287Lys) c.466G>A (p.Glu156Lys) c.769G>A (p.Glu257Lys) c.382G>A (p.Glu128Lys) c.*351G>A (n.*351G>A) c.*302G>A (n.*302G>A) n.234G>A n.262G>A n.385G>A c.1003G>A (p.Glu335Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 3 | g.33051939G>A | CA2299578 | GLB1 | c.858C>T (p.Thr286=) c.465C>T (p.Thr155=) c.768C>T (p.Thr256=) c.381C>T (p.Thr127=) c.*350C>T (n.*350C>T) c.*301C>T (n.*301C>T) n.233C>T n.261C>T n.384C>T c.1002C>T (p.Thr334=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 3 | g.33051939G>C | CA432959462 | GLB1 | c.858C>G (p.Thr286=) c.465C>G (p.Thr155=) c.768C>G (p.Thr256=) c.381C>G (p.Thr127=) c.*350C>G (n.*350C>G) c.*301C>G (n.*301C>G) n.233C>G n.261C>G n.384C>G c.1002C>G (p.Thr334=) | gnomAD v4 |
| 3 | g.33051939G= | CA1356001041 | GLB1 | c.858C= (p.Thr286=) c.465C= (p.Thr155=) c.768C= (p.Thr256=) c.381C= (p.Thr127=) c.*350C= (n.*350C=) c.*301C= (n.*301C=) n.233C= n.261C= n.384C= c.1002C= (p.Thr334=) | |
| 3 | g.33051939G>T | CA432959463 | GLB1 | c.858C>A (p.Thr286=) c.465C>A (p.Thr155=) c.768C>A (p.Thr256=) c.381C>A (p.Thr127=) c.*350C>A (n.*350C>A) c.*301C>A (n.*301C>A) n.233C>A n.261C>A n.384C>A c.1002C>A (p.Thr334=) | gnomAD v4 |
| 3 | g.33051940G>A | CA352001412 | GLB1 | c.857C>T (p.Thr286Ile) c.464C>T (p.Thr155Ile) c.767C>T (p.Thr256Ile) c.380C>T (p.Thr127Ile) c.*349C>T (n.*349C>T) c.*300C>T (n.*300C>T) n.232C>T n.260C>T n.383C>T c.1001C>T (p.Thr334Ile) | |
| 3 | g.33051940G>C | CA352001408 | GLB1 | c.857C>G (p.Thr286Ser) c.464C>G (p.Thr155Ser) c.767C>G (p.Thr256Ser) c.380C>G (p.Thr127Ser) c.*349C>G (n.*349C>G) c.*300C>G (n.*300C>G) n.232C>G n.260C>G n.383C>G c.1001C>G (p.Thr334Ser) | |
| 3 | g.33051940G>T | CA352001410 | GLB1 | c.857C>A (p.Thr286Asn) c.464C>A (p.Thr155Asn) c.767C>A (p.Thr256Asn) c.380C>A (p.Thr127Asn) c.*349C>A (n.*349C>A) c.*300C>A (n.*300C>A) n.232C>A n.260C>A n.383C>A c.1001C>A (p.Thr334Asn) | |
| 3 | g.33051941T>A | CA352001415 | GLB1 | c.856A>T (p.Thr286Ser) c.463A>T (p.Thr155Ser) c.766A>T (p.Thr256Ser) c.379A>T (p.Thr127Ser) c.*348A>T (n.*348A>T) c.*299A>T (n.*299A>T) n.231A>T n.259A>T n.382A>T c.1000A>T (p.Thr334Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.33051941T>C | CA352001418 | GLB1 | c.856A>G (p.Thr286Ala) c.463A>G (p.Thr155Ala) c.766A>G (p.Thr256Ala) c.379A>G (p.Thr127Ala) c.*348A>G (n.*348A>G) c.*299A>G (n.*299A>G) n.231A>G n.259A>G n.382A>G c.1000A>G (p.Thr334Ala) | |
| 3 | g.33051941T>G | CA352001421 | GLB1 | c.856A>C (p.Thr286Pro) c.463A>C (p.Thr155Pro) c.766A>C (p.Thr256Pro) c.379A>C (p.Thr127Pro) c.*348A>C (n.*348A>C) c.*299A>C (n.*299A>C) n.231A>C n.259A>C n.382A>C c.1000A>C (p.Thr334Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.33051941T= | CA1356001042 | GLB1 | c.856A= (p.Thr286=) c.463A= (p.Thr155=) c.766A= (p.Thr256=) c.379A= (p.Thr127=) c.*348A= (n.*348A=) c.*299A= (n.*299A=) n.231A= n.259A= n.382A= c.1000A= (p.Thr334=) | |
| 3 | g.33051942C>A | CA352001424 | GLB1 | c.855G>T (p.Lys285Asn) c.462G>T (p.Lys154Asn) c.765G>T (p.Lys255Asn) c.378G>T (p.Lys126Asn) c.*347G>T (n.*347G>T) c.*298G>T (n.*298G>T) n.230G>T n.258G>T n.381G>T c.999G>T (p.Lys333Asn) | gnomAD v4 |
| 3 | g.33051942C>G | CA352001426 | GLB1 | c.855G>C (p.Lys285Asn) c.462G>C (p.Lys154Asn) c.765G>C (p.Lys255Asn) c.378G>C (p.Lys126Asn) c.*347G>C (n.*347G>C) c.*298G>C (n.*298G>C) n.230G>C n.258G>C n.381G>C c.999G>C (p.Lys333Asn) | |
| 3 | g.33051942C>T | CA432959464 | GLB1 | c.855G>A (p.Lys285=) c.462G>A (p.Lys154=) c.765G>A (p.Lys255=) c.378G>A (p.Lys126=) c.*347G>A (n.*347G>A) c.*298G>A (n.*298G>A) n.230G>A n.258G>A n.381G>A c.999G>A (p.Lys333=) | |
| 3 | g.33051943T>A | CA352001428 | GLB1 | c.854A>T (p.Lys285Met) c.461A>T (p.Lys154Met) c.764A>T (p.Lys255Met) c.377A>T (p.Lys126Met) c.*346A>T (n.*346A>T) c.*297A>T (n.*297A>T) n.229A>T n.257A>T n.380A>T c.998A>T (p.Lys333Met) | |
| 3 | g.33051943T>C | CA352001430 | GLB1 | c.854A>G (p.Lys285Arg) c.461A>G (p.Lys154Arg) c.764A>G (p.Lys255Arg) c.377A>G (p.Lys126Arg) c.*346A>G (n.*346A>G) c.*297A>G (n.*297A>G) n.229A>G n.257A>G n.380A>G c.998A>G (p.Lys333Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.33051943T>G | CA352001432 | GLB1 | c.854A>C (p.Lys285Thr) c.461A>C (p.Lys154Thr) c.764A>C (p.Lys255Thr) c.377A>C (p.Lys126Thr) c.*346A>C (n.*346A>C) c.*297A>C (n.*297A>C) n.229A>C n.257A>C n.380A>C c.998A>C (p.Lys333Thr) | |
| 3 | g.33051943T= | CA1356001043 | GLB1 | c.854A= (p.Lys285=) c.461A= (p.Lys154=) c.764A= (p.Lys255=) c.377A= (p.Lys126=) c.*346A= (n.*346A=) c.*297A= (n.*297A=) n.229A= n.257A= n.380A= c.998A= (p.Lys333=) | |
| 3 | g.33051944T>A | CA352001435 | GLB1 | c.853A>T (p.Lys285Ter) c.460A>T (p.Lys154Ter) c.763A>T (p.Lys255Ter) c.376A>T (p.Lys126Ter) c.*345A>T (n.*345A>T) c.*296A>T (n.*296A>T) n.228A>T n.256A>T n.379A>T c.997A>T (p.Lys333Ter) | |
| 3 | g.33051944T>C | CA352001436 | GLB1 | c.853A>G (p.Lys285Glu) c.460A>G (p.Lys154Glu) c.763A>G (p.Lys255Glu) c.376A>G (p.Lys126Glu) c.*345A>G (n.*345A>G) c.*296A>G (n.*296A>G) n.228A>G n.256A>G n.379A>G c.997A>G (p.Lys333Glu) | |
| 3 | g.33051944T>G | CA352001437 | GLB1 | c.853A>C (p.Lys285Gln) c.460A>C (p.Lys154Gln) c.763A>C (p.Lys255Gln) c.376A>C (p.Lys126Gln) c.*345A>C (n.*345A>C) c.*296A>C (n.*296A>C) n.228A>C n.256A>C n.379A>C c.997A>C (p.Lys333Gln) | |
| 3 | g.33051945G>A | CA432959465 | GLB1 | c.852C>T (p.Ile284=) c.459C>T (p.Ile153=) c.762C>T (p.Ile254=) c.375C>T (p.Ile125=) c.*344C>T (n.*344C>T) c.*295C>T (n.*295C>T) n.227C>T n.255C>T n.378C>T c.996C>T (p.Ile332=) | |
| 3 | g.33051945G>C | CA352001441 | GLB1 | c.852C>G (p.Ile284Met) c.459C>G (p.Ile153Met) c.762C>G (p.Ile254Met) c.375C>G (p.Ile125Met) c.*344C>G (n.*344C>G) c.*295C>G (n.*295C>G) n.227C>G n.255C>G n.378C>G c.996C>G (p.Ile332Met) | gnomAD v4 |
| 3 | g.33051945G>T | CA432959466 | GLB1 | c.852C>A (p.Ile284=) c.459C>A (p.Ile153=) c.762C>A (p.Ile254=) c.375C>A (p.Ile125=) c.*344C>A (n.*344C>A) c.*295C>A (n.*295C>A) n.227C>A n.255C>A n.378C>A c.996C>A (p.Ile332=) | |
| 3 | g.33051946A= | CA1356001044 | GLB1 | c.851T= (p.Ile284=) c.458T= (p.Ile153=) c.761T= (p.Ile254=) c.374T= (p.Ile125=) c.*343T= (n.*343T=) c.*294T= (n.*294T=) n.226T= n.254T= n.377T= c.995T= (p.Ile332=) | |
| 3 | g.33051946A>C | CA352001443 | GLB1 | c.851T>G (p.Ile284Ser) c.458T>G (p.Ile153Ser) c.761T>G (p.Ile254Ser) c.374T>G (p.Ile125Ser) c.*343T>G (n.*343T>G) c.*294T>G (n.*294T>G) n.226T>G n.254T>G n.377T>G c.995T>G (p.Ile332Ser) | |
| 3 | g.33051946A>G | CA72667934 | GLB1 | c.851T>C (p.Ile284Thr) c.458T>C (p.Ile153Thr) c.761T>C (p.Ile254Thr) c.374T>C (p.Ile125Thr) c.*343T>C (n.*343T>C) c.*294T>C (n.*294T>C) n.226T>C n.254T>C n.377T>C c.995T>C (p.Ile332Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.33051946A>T | CA352001447 | GLB1 | c.851T>A (p.Ile284Asn) c.458T>A (p.Ile153Asn) c.761T>A (p.Ile254Asn) c.374T>A (p.Ile125Asn) c.*343T>A (n.*343T>A) c.*294T>A (n.*294T>A) n.226T>A n.254T>A n.377T>A c.995T>A (p.Ile332Asn) | |
| 3 | g.33051947T>A | CA352001449 | GLB1 | c.850A>T (p.Ile284Phe) c.457A>T (p.Ile153Phe) c.760A>T (p.Ile254Phe) c.373A>T (p.Ile125Phe) c.*342A>T (n.*342A>T) c.*293A>T (n.*293A>T) n.225A>T n.253A>T n.376A>T c.994A>T (p.Ile332Phe) | |
| 3 | g.33051947T>C | CA2299579 | GLB1 | c.850A>G (p.Ile284Val) c.457A>G (p.Ile153Val) c.760A>G (p.Ile254Val) c.373A>G (p.Ile125Val) c.*342A>G (n.*342A>G) c.*293A>G (n.*293A>G) n.225A>G n.253A>G n.376A>G c.994A>G (p.Ile332Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.33051947T>G | CA352001452 | GLB1 | c.850A>C (p.Ile284Leu) c.457A>C (p.Ile153Leu) c.760A>C (p.Ile254Leu) c.373A>C (p.Ile125Leu) c.*342A>C (n.*342A>C) c.*293A>C (n.*293A>C) n.225A>C n.253A>C n.376A>C c.994A>C (p.Ile332Leu) | |
| 3 | g.33051947T= | CA1356001045 | GLB1 | c.850A= (p.Ile284=) c.457A= (p.Ile153=) c.760A= (p.Ile254=) c.373A= (p.Ile125=) c.*342A= (n.*342A=) c.*293A= (n.*293A=) n.225A= n.253A= n.376A= c.994A= (p.Ile332=) | |
| 3 | g.33051948T>A | CA432959467 | GLB1 | c.849A>T (p.Thr283=) c.456A>T (p.Thr152=) c.759A>T (p.Thr253=) c.372A>T (p.Thr124=) c.*341A>T (n.*341A>T) c.*292A>T (n.*292A>T) n.224A>T n.252A>T n.375A>T c.993A>T (p.Thr331=) | |
| 3 | g.33051948T>C | CA432959468 | GLB1 | c.849A>G (p.Thr283=) c.456A>G (p.Thr152=) c.759A>G (p.Thr253=) c.372A>G (p.Thr124=) c.*341A>G (n.*341A>G) c.*292A>G (n.*292A>G) n.224A>G n.252A>G n.375A>G c.993A>G (p.Thr331=) | |
| 3 | g.33051948T>G | CA432959469 | GLB1 | c.849A>C (p.Thr283=) c.456A>C (p.Thr152=) c.759A>C (p.Thr253=) c.372A>C (p.Thr124=) c.*341A>C (n.*341A>C) c.*292A>C (n.*292A>C) n.224A>C n.252A>C n.375A>C c.993A>C (p.Thr331=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.33051948T= | CA1356001046 | GLB1 | c.849A= (p.Thr283=) c.456A= (p.Thr152=) c.759A= (p.Thr253=) c.372A= (p.Thr124=) c.*341A= (n.*341A=) c.*292A= (n.*292A=) n.224A= n.252A= n.375A= c.993A= (p.Thr331=) | |
| 3 | g.33051950_33051951del | CA913102736 | GLB1 | c.848_849del (p.Thr283AsnfsTer12) c.455_456del (p.Thr152AsnfsTer12) c.758_759del (p.Thr253AsnfsTer12) c.371_372del (p.Thr124AsnfsTer12) c.*340_*341del (n.*340_*341del) c.*291_*292del (n.*291_*292del) n.223_224del n.251_252del n.374_375del c.992_993del (p.Thr331AsnfsTer12) | |
| 3 | g.33051949G>A | CA352001454 | GLB1 | c.848C>T (p.Thr283Ile) c.455C>T (p.Thr152Ile) c.758C>T (p.Thr253Ile) c.371C>T (p.Thr124Ile) c.*340C>T (n.*340C>T) c.*291C>T (n.*291C>T) n.223C>T n.251C>T n.374C>T c.992C>T (p.Thr331Ile) | gnomAD v4 |
| 3 | g.33051949G>C | CA352001455 | GLB1 | c.848C>G (p.Thr283Arg) c.455C>G (p.Thr152Arg) c.758C>G (p.Thr253Arg) c.371C>G (p.Thr124Arg) c.*340C>G (n.*340C>G) c.*291C>G (n.*291C>G) n.223C>G n.251C>G n.374C>G c.992C>G (p.Thr331Arg) | gnomAD v4 |
| 3 | g.33051949G>T | CA352001456 | GLB1 | c.848C>A (p.Thr283Lys) c.455C>A (p.Thr152Lys) c.758C>A (p.Thr253Lys) c.371C>A (p.Thr124Lys) c.*340C>A (n.*340C>A) c.*291C>A (n.*291C>A) n.223C>A n.251C>A n.374C>A c.992C>A (p.Thr331Lys) | |
| 3 | g.33051949dup | CA2586971849 | GLB1 | c.848dup (p.Ile284AsnfsTer12) c.455dup (p.Ile153AsnfsTer12) c.758dup (p.Ile254AsnfsTer12) c.371dup (p.Ile125AsnfsTer12) c.*340dup (n.*340dup) c.*291dup (n.*291dup) n.223dup n.251dup n.374dup c.992dup (p.Ile332AsnfsTer12) | |
| 3 | g.33051950T>A | CA352001458 | GLB1 | c.847A>T (p.Thr283Ser) c.454A>T (p.Thr152Ser) c.757A>T (p.Thr253Ser) c.370A>T (p.Thr124Ser) c.*339A>T (n.*339A>T) c.*290A>T (n.*290A>T) n.222A>T n.250A>T n.373A>T c.991A>T (p.Thr331Ser) | |
| 3 | g.33051950T>C | CA352001460 | GLB1 | c.847A>G (p.Thr283Ala) c.454A>G (p.Thr152Ala) c.757A>G (p.Thr253Ala) c.370A>G (p.Thr124Ala) c.*339A>G (n.*339A>G) c.*290A>G (n.*290A>G) n.222A>G n.250A>G n.373A>G c.991A>G (p.Thr331Ala) | dbSNP gnomAD v4 |
| 3 | g.33051950T>G | CA352001462 | GLB1 | c.847A>C (p.Thr283Pro) c.454A>C (p.Thr152Pro) c.757A>C (p.Thr253Pro) c.370A>C (p.Thr124Pro) c.*339A>C (n.*339A>C) c.*290A>C (n.*290A>C) n.222A>C n.250A>C n.373A>C c.991A>C (p.Thr331Pro) | |
| 3 | g.33051950T= | CA1356001048 | GLB1 | c.847A= (p.Thr283=) c.454A= (p.Thr152=) c.757A= (p.Thr253=) c.370A= (p.Thr124=) c.*339A= (n.*339A=) c.*290A= (n.*290A=) n.222A= n.250A= n.373A= c.991A= (p.Thr331=) | |
| 3 | g.33051950_33051951delinsTG | CA1356001047 | GLB1 | c.846_847delinsCA (p.Ser282=) c.453_454delinsCA (p.Ser151=) c.756_757delinsCA (p.Ser252=) c.369_370delinsCA (p.Ser123=) c.*338_*339delinsCA (n.*338_*339delinsCA) c.*289_*290delinsCA (n.*289_*290delinsCA) n.221_222delinsCA n.249_250delinsCA n.372_373delinsCA c.990_991delinsCA (p.Ser330=) | |
| 3 | g.33051951G>A | CA432959470 | GLB1 | c.846C>T (p.Ser282=) c.453C>T (p.Ser151=) c.756C>T (p.Ser252=) c.369C>T (p.Ser123=) c.*338C>T (n.*338C>T) c.*289C>T (n.*289C>T) n.221C>T n.249C>T n.372C>T c.990C>T (p.Ser330=) | |
| 3 | g.33051951G>C | CA432959471 | GLB1 | c.846C>G (p.Ser282=) c.453C>G (p.Ser151=) c.756C>G (p.Ser252=) c.369C>G (p.Ser123=) c.*338C>G (n.*338C>G) c.*289C>G (n.*289C>G) n.221C>G n.249C>G n.372C>G c.990C>G (p.Ser330=) | |
| 3 | g.33051951G>T | CA432959472 | GLB1 | c.846C>A (p.Ser282=) c.453C>A (p.Ser151=) c.756C>A (p.Ser252=) c.369C>A (p.Ser123=) c.*338C>A (n.*338C>A) c.*289C>A (n.*289C>A) n.221C>A n.249C>A n.372C>A c.990C>A (p.Ser330=) | |
| 3 | g.33051952del | CA658821731 | GLB1 | c.846del (p.Thr283GlnfsTer21) c.453del (p.Thr152GlnfsTer21) c.756del (p.Thr253GlnfsTer21) c.369del (p.Thr124GlnfsTer21) c.*338del (n.*338del) c.*289del (n.*289del) n.221del n.249del n.372del c.990del (p.Thr331GlnfsTer21) | ClinVar dbSNP |
| 3 | g.33051952G>A | CA352001468 | GLB1 | c.845C>T (p.Ser282Phe) c.452C>T (p.Ser151Phe) c.755C>T (p.Ser252Phe) c.368C>T (p.Ser123Phe) c.*337C>T (n.*337C>T) c.*288C>T (n.*288C>T) n.220C>T n.248C>T n.371C>T c.989C>T (p.Ser330Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.33051952G>C | CA352001470 | GLB1 | c.845C>G (p.Ser282Cys) c.452C>G (p.Ser151Cys) c.755C>G (p.Ser252Cys) c.368C>G (p.Ser123Cys) c.*337C>G (n.*337C>G) c.*288C>G (n.*288C>G) n.220C>G n.248C>G n.371C>G c.989C>G (p.Ser330Cys) | |
| 3 | g.33051952G= | CA1356001049 | GLB1 | c.845C= (p.Ser282=) c.452C= (p.Ser151=) c.755C= (p.Ser252=) c.368C= (p.Ser123=) c.*337C= (n.*337C=) c.*288C= (n.*288C=) n.220C= n.248C= n.371C= c.989C= (p.Ser330=) | |
| 3 | g.33051952G>T | CA352001465 | GLB1 | c.845C>A (p.Ser282Tyr) c.452C>A (p.Ser151Tyr) c.755C>A (p.Ser252Tyr) c.368C>A (p.Ser123Tyr) c.*337C>A (n.*337C>A) c.*288C>A (n.*288C>A) n.220C>A n.248C>A n.371C>A c.989C>A (p.Ser330Tyr) | |
| 3 | g.33051953A>C | CA352001473 | GLB1 | c.844T>G (p.Ser282Ala) c.451T>G (p.Ser151Ala) c.754T>G (p.Ser252Ala) c.367T>G (p.Ser123Ala) c.*336T>G (n.*336T>G) c.*287T>G (n.*287T>G) n.219T>G n.247T>G n.370T>G c.988T>G (p.Ser330Ala) | |
| 3 | g.33051953A>G | CA352001475 | GLB1 | c.844T>C (p.Ser282Pro) c.451T>C (p.Ser151Pro) c.754T>C (p.Ser252Pro) c.367T>C (p.Ser123Pro) c.*336T>C (n.*336T>C) c.*287T>C (n.*287T>C) n.219T>C n.247T>C n.370T>C c.988T>C (p.Ser330Pro) | |
| 3 | g.33051953A>T | CA352001477 | GLB1 | c.844T>A (p.Ser282Thr) c.451T>A (p.Ser151Thr) c.754T>A (p.Ser252Thr) c.367T>A (p.Ser123Thr) c.*336T>A (n.*336T>A) c.*287T>A (n.*287T>A) n.219T>A n.247T>A n.370T>A c.988T>A (p.Ser330Thr) | |
| 3 | g.33051954G>A | CA432959473 | GLB1 | c.843C>T (p.His281=) c.450C>T (p.His150=) c.753C>T (p.His251=) c.366C>T (p.His122=) c.*335C>T (n.*335C>T) c.*286C>T (n.*286C>T) n.218C>T n.246C>T n.369C>T c.987C>T (p.His329=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.33051954G>C | CA352001480 | GLB1 | c.843C>G (p.His281Gln) c.450C>G (p.His150Gln) c.753C>G (p.His251Gln) c.366C>G (p.His122Gln) c.*335C>G (n.*335C>G) c.*286C>G (n.*286C>G) n.218C>G n.246C>G n.369C>G c.987C>G (p.His329Gln) | |
| 3 | g.33051954G= | CA1356001050 | GLB1 | c.843C= (p.His281=) c.450C= (p.His150=) c.753C= (p.His251=) c.366C= (p.His122=) c.*335C= (n.*335C=) c.*286C= (n.*286C=) n.218C= n.246C= n.369C= c.987C= (p.His329=) | |
| 3 | g.33051954G>T | CA352001481 | GLB1 | c.843C>A (p.His281Gln) c.450C>A (p.His150Gln) c.753C>A (p.His251Gln) c.366C>A (p.His122Gln) c.*335C>A (n.*335C>A) c.*286C>A (n.*286C>A) n.218C>A n.246C>A n.369C>A c.987C>A (p.His329Gln) | |
| 3 | g.33051955T>A | CA352001489 | GLB1 | c.842A>T (p.His281Leu) c.449A>T (p.His150Leu) c.752A>T (p.His251Leu) c.365A>T (p.His122Leu) c.*334A>T (n.*334A>T) c.*285A>T (n.*285A>T) n.217A>T n.245A>T n.368A>T c.986A>T (p.His329Leu) | |
| 3 | g.33051955T>C | CA352001486 | GLB1 | c.842A>G (p.His281Arg) c.449A>G (p.His150Arg) c.752A>G (p.His251Arg) c.365A>G (p.His122Arg) c.*334A>G (n.*334A>G) c.*285A>G (n.*285A>G) n.217A>G n.245A>G n.368A>G c.986A>G (p.His329Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.33051955T>G | CA352001484 | GLB1 | c.842A>C (p.His281Pro) c.449A>C (p.His150Pro) c.752A>C (p.His251Pro) c.365A>C (p.His122Pro) c.*334A>C (n.*334A>C) c.*285A>C (n.*285A>C) n.217A>C n.245A>C n.368A>C c.986A>C (p.His329Pro) | |
| 3 | g.33051955T= | CA1356001051 | GLB1 | c.842A= (p.His281=) c.449A= (p.His150=) c.752A= (p.His251=) c.365A= (p.His122=) c.*334A= (n.*334A=) c.*285A= (n.*285A=) n.217A= n.245A= n.368A= c.986A= (p.His329=) | |
| 3 | g.33051956G>A | CA2299580 | GLB1 | c.841C>T (p.His281Tyr) c.448C>T (p.His150Tyr) c.751C>T (p.His251Tyr) c.364C>T (p.His122Tyr) c.*333C>T (n.*333C>T) c.*284C>T (n.*284C>T) n.216C>T n.244C>T n.367C>T c.985C>T (p.His329Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.33051956G>C | CA352001493 | GLB1 | c.841C>G (p.His281Asp) c.448C>G (p.His150Asp) c.751C>G (p.His251Asp) c.364C>G (p.His122Asp) c.*333C>G (n.*333C>G) c.*284C>G (n.*284C>G) n.216C>G n.244C>G n.367C>G c.985C>G (p.His329Asp) | |
| 3 | g.33051956G= | CA1356001052 | GLB1 | c.841C= (p.His281=) c.448C= (p.His150=) c.751C= (p.His251=) c.364C= (p.His122=) c.*333C= (n.*333C=) c.*284C= (n.*284C=) n.216C= n.244C= n.367C= c.985C= (p.His329=) | |
| 3 | g.33051956G>T | CA352001495 | GLB1 | c.841C>A (p.His281Asn) c.448C>A (p.His150Asn) c.751C>A (p.His251Asn) c.364C>A (p.His122Asn) c.*333C>A (n.*333C>A) c.*284C>A (n.*284C>A) n.216C>A n.244C>A n.367C>A c.985C>A (p.His329Asn) | |
| 3 | g.33051957A>C | CA432959476 | GLB1 | c.840T>G (p.Pro280=) c.447T>G (p.Pro149=) c.750T>G (p.Pro250=) c.363T>G (p.Pro121=) c.*332T>G (n.*332T>G) c.*283T>G (n.*283T>G) n.215T>G n.243T>G n.366T>G c.984T>G (p.Pro328=) | |
| 3 | g.33051957A>G | CA432959475 | GLB1 | c.840T>C (p.Pro280=) c.447T>C (p.Pro149=) c.750T>C (p.Pro250=) c.363T>C (p.Pro121=) c.*332T>C (n.*332T>C) c.*283T>C (n.*283T>C) n.215T>C n.243T>C n.366T>C c.984T>C (p.Pro328=) | |
| 3 | g.33051957A>T | CA432959474 | GLB1 | c.840T>A (p.Pro280=) c.447T>A (p.Pro149=) c.750T>A (p.Pro250=) c.363T>A (p.Pro121=) c.*332T>A (n.*332T>A) c.*283T>A (n.*283T>A) n.215T>A n.243T>A n.366T>A c.984T>A (p.Pro328=) | |
| 3 | g.33051958G>A | CA352001499 | GLB1 | c.839C>T (p.Pro280Leu) c.446C>T (p.Pro149Leu) c.749C>T (p.Pro250Leu) c.362C>T (p.Pro121Leu) c.*331C>T (n.*331C>T) c.*282C>T (n.*282C>T) n.214C>T n.242C>T n.365C>T c.983C>T (p.Pro328Leu) | gnomAD v4 |
| 3 | g.33051958G>C | CA352001501 | GLB1 | c.839C>G (p.Pro280Arg) c.446C>G (p.Pro149Arg) c.749C>G (p.Pro250Arg) c.362C>G (p.Pro121Arg) c.*331C>G (n.*331C>G) c.*282C>G (n.*282C>G) n.214C>G n.242C>G n.365C>G c.983C>G (p.Pro328Arg) | |
| 3 | g.33051958G>T | CA352001503 | GLB1 | c.839C>A (p.Pro280His) c.446C>A (p.Pro149His) c.749C>A (p.Pro250His) c.362C>A (p.Pro121His) c.*331C>A (n.*331C>A) c.*282C>A (n.*282C>A) n.214C>A n.242C>A n.365C>A c.983C>A (p.Pro328His) | |
| 3 | g.33051959G>A | CA352001505 | GLB1 | c.838C>T (p.Pro280Ser) c.445C>T (p.Pro149Ser) c.748C>T (p.Pro250Ser) c.361C>T (p.Pro121Ser) c.*330C>T (n.*330C>T) c.*281C>T (n.*281C>T) n.213C>T n.241C>T n.364C>T c.982C>T (p.Pro328Ser) | ClinVar |
| 3 | g.33051959G>C | CA352001510 | GLB1 | c.838C>G (p.Pro280Ala) c.445C>G (p.Pro149Ala) c.748C>G (p.Pro250Ala) c.361C>G (p.Pro121Ala) c.*330C>G (n.*330C>G) c.*281C>G (n.*281C>G) n.213C>G n.241C>G n.364C>G c.982C>G (p.Pro328Ala) | ClinVar |
| 3 | g.33051959G>T | CA352001508 | GLB1 | c.838C>A (p.Pro280Thr) c.445C>A (p.Pro149Thr) c.748C>A (p.Pro250Thr) c.361C>A (p.Pro121Thr) c.*330C>A (n.*330C>A) c.*281C>A (n.*281C>A) n.213C>A n.241C>A n.364C>A c.982C>A (p.Pro328Thr) | |
| 3 | g.33051960T>A | CA352001513 | GLB1 | c.837A>T (p.Gln279His) c.444A>T (p.Gln148His) c.747A>T (p.Gln249His) c.360A>T (p.Gln120His) c.*329A>T (n.*329A>T) c.*280A>T (n.*280A>T) n.212A>T n.240A>T n.363A>T c.981A>T (p.Gln327His) | |
| 3 | g.33051960T>C | CA432959477 | GLB1 | c.837A>G (p.Gln279=) c.444A>G (p.Gln148=) c.747A>G (p.Gln249=) c.360A>G (p.Gln120=) c.*329A>G (n.*329A>G) c.*280A>G (n.*280A>G) n.212A>G n.240A>G n.363A>G c.981A>G (p.Gln327=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.33051960T>G | CA352001514 | GLB1 | c.837A>C (p.Gln279His) c.444A>C (p.Gln148His) c.747A>C (p.Gln249His) c.360A>C (p.Gln120His) c.*329A>C (n.*329A>C) c.*280A>C (n.*280A>C) n.212A>C n.240A>C n.363A>C c.981A>C (p.Gln327His) | ClinVar |
| 3 | g.33051960T= | CA1356001053 | GLB1 | c.837A= (p.Gln279=) c.444A= (p.Gln148=) c.747A= (p.Gln249=) c.360A= (p.Gln120=) c.*329A= (n.*329A=) c.*280A= (n.*280A=) n.212A= n.240A= n.363A= c.981A= (p.Gln327=) | |
| 3 | g.33051961T>A | CA352001518 | GLB1 | c.836A>T (p.Gln279Leu) c.443A>T (p.Gln148Leu) c.746A>T (p.Gln249Leu) c.359A>T (p.Gln120Leu) c.*328A>T (n.*328A>T) c.*279A>T (n.*279A>T) n.211A>T n.239A>T n.362A>T c.980A>T (p.Gln327Leu) | |
| 3 | g.33051961T>C | CA352001520 | GLB1 | c.836A>G (p.Gln279Arg) c.443A>G (p.Gln148Arg) c.746A>G (p.Gln249Arg) c.359A>G (p.Gln120Arg) c.*328A>G (n.*328A>G) c.*279A>G (n.*279A>G) n.211A>G n.239A>G n.362A>G c.980A>G (p.Gln327Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.33051961T>G | CA352001522 | GLB1 | c.836A>C (p.Gln279Pro) c.443A>C (p.Gln148Pro) c.746A>C (p.Gln249Pro) c.359A>C (p.Gln120Pro) c.*328A>C (n.*328A>C) c.*279A>C (n.*279A>C) n.211A>C n.239A>C n.362A>C c.980A>C (p.Gln327Pro) | |
| 3 | g.33051961T= | CA1356001054 | GLB1 | c.836A= (p.Gln279=) c.443A= (p.Gln148=) c.746A= (p.Gln249=) c.359A= (p.Gln120=) c.*328A= (n.*328A=) c.*279A= (n.*279A=) n.211A= n.239A= n.362A= c.980A= (p.Gln327=) | |
| 3 | g.33051962G>A | CA352001525 | GLB1 | c.835C>T (p.Gln279Ter) c.442C>T (p.Gln148Ter) c.745C>T (p.Gln249Ter) c.358C>T (p.Gln120Ter) c.*327C>T (n.*327C>T) c.*278C>T (n.*278C>T) n.210C>T n.238C>T n.361C>T c.979C>T (p.Gln327Ter) | |
| 3 | g.33051962G>C | CA352001527 | GLB1 | c.835C>G (p.Gln279Glu) c.442C>G (p.Gln148Glu) c.745C>G (p.Gln249Glu) c.358C>G (p.Gln120Glu) c.*327C>G (n.*327C>G) c.*278C>G (n.*278C>G) n.210C>G n.238C>G n.361C>G c.979C>G (p.Gln327Glu) | |
| 3 | g.33051962G= | CA1356001055 | GLB1 | c.835C= (p.Gln279=) c.442C= (p.Gln148=) c.745C= (p.Gln249=) c.358C= (p.Gln120=) c.*327C= (n.*327C=) c.*278C= (n.*278C=) n.210C= n.238C= n.361C= c.979C= (p.Gln327=) | |
| 3 | g.33051962G>T | CA352001529 | GLB1 | c.835C>A (p.Gln279Lys) c.442C>A (p.Gln148Lys) c.745C>A (p.Gln249Lys) c.358C>A (p.Gln120Lys) c.*327C>A (n.*327C>A) c.*278C>A (n.*278C>A) n.210C>A n.238C>A n.361C>A c.979C>A (p.Gln327Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.33051963del | CA2580069276 | GLB1 | c.835del (p.Gln279AsnfsTer25) c.442del (p.Gln148AsnfsTer25) c.745del (p.Gln249AsnfsTer25) c.358del (p.Gln120AsnfsTer25) c.*327del (n.*327del) c.*278del (n.*278del) n.210del n.238del n.361del c.979del (p.Gln327AsnfsTer25) | ClinVar gnomAD v4 |
| 3 | g.33051963G>A | CA432959478 | GLB1 | c.834C>T (p.Gly278=) c.441C>T (p.Gly147=) c.744C>T (p.Gly248=) c.357C>T (p.Gly119=) c.*326C>T (n.*326C>T) c.*277C>T (n.*277C>T) n.209C>T n.237C>T n.360C>T c.978C>T (p.Gly326=) | dbSNP |
| 3 | g.33051963G>C | CA432959480 | GLB1 | c.834C>G (p.Gly278=) c.441C>G (p.Gly147=) c.744C>G (p.Gly248=) c.357C>G (p.Gly119=) c.*326C>G (n.*326C>G) c.*277C>G (n.*277C>G) n.209C>G n.237C>G n.360C>G c.978C>G (p.Gly326=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.33051963G= | CA1356001056 | GLB1 | c.834C= (p.Gly278=) c.441C= (p.Gly147=) c.744C= (p.Gly248=) c.357C= (p.Gly119=) c.*326C= (n.*326C=) c.*277C= (n.*277C=) n.209C= n.237C= n.360C= c.978C= (p.Gly326=) | |
| 3 | g.33051963G>T | CA432959479 | GLB1 | c.834C>A (p.Gly278=) c.441C>A (p.Gly147=) c.744C>A (p.Gly248=) c.357C>A (p.Gly119=) c.*326C>A (n.*326C>A) c.*277C>A (n.*277C>A) n.209C>A n.237C>A n.360C>A c.978C>A (p.Gly326=) | |
| 3 | g.33051964C>A | CA352001532 | GLB1 | c.833G>T (p.Gly278Val) c.440G>T (p.Gly147Val) c.743G>T (p.Gly248Val) c.356G>T (p.Gly119Val) c.*325G>T (n.*325G>T) c.*276G>T (n.*276G>T) n.208G>T n.236G>T n.359G>T c.977G>T (p.Gly326Val) | |
| 3 | g.33051964C>G | CA352001534 | GLB1 | c.833G>C (p.Gly278Ala) c.440G>C (p.Gly147Ala) c.743G>C (p.Gly248Ala) c.356G>C (p.Gly119Ala) c.*325G>C (n.*325G>C) c.*276G>C (n.*276G>C) n.208G>C n.236G>C n.359G>C c.977G>C (p.Gly326Ala) | |
| 3 | g.33051964C>T | CA352001536 | GLB1 | c.833G>A (p.Gly278Asp) c.440G>A (p.Gly147Asp) c.743G>A (p.Gly248Asp) c.356G>A (p.Gly119Asp) c.*325G>A (n.*325G>A) c.*276G>A (n.*276G>A) n.208G>A n.236G>A n.359G>A c.977G>A (p.Gly326Asp) | |
| 3 | g.33051967del | CA2580069277 | GLB1 | c.833del (p.Gly278AlafsTer26) c.440del (p.Gly147AlafsTer26) c.743del (p.Gly248AlafsTer26) c.356del (p.Gly119AlafsTer26) c.*325del (n.*325del) c.*276del (n.*276del) n.208del n.236del n.359del c.977del (p.Gly326AlafsTer26) | ClinVar gnomAD v4 |
| 3 | g.33051965C>A | CA352001543 | GLB1 | c.832G>T (p.Gly278Cys) c.439G>T (p.Gly147Cys) c.742G>T (p.Gly248Cys) c.355G>T (p.Gly119Cys) c.*324G>T (n.*324G>T) c.*275G>T (n.*275G>T) n.207G>T n.235G>T n.358G>T c.976G>T (p.Gly326Cys) | |
| 3 | g.33051965C>G | CA352001539 | GLB1 | c.832G>C (p.Gly278Arg) c.439G>C (p.Gly147Arg) c.742G>C (p.Gly248Arg) c.355G>C (p.Gly119Arg) c.*324G>C (n.*324G>C) c.*275G>C (n.*275G>C) n.207G>C n.235G>C n.358G>C c.976G>C (p.Gly326Arg) | |
| 3 | g.33051965C>T | CA352001541 | GLB1 | c.832G>A (p.Gly278Ser) c.439G>A (p.Gly147Ser) c.742G>A (p.Gly248Ser) c.355G>A (p.Gly119Ser) c.*324G>A (n.*324G>A) c.*275G>A (n.*275G>A) n.207G>A n.235G>A n.358G>A c.976G>A (p.Gly326Ser) | |
| 3 | g.33051966C>A | CA352001546 | GLB1 | c.831G>T (p.Trp277Cys) c.438G>T (p.Trp146Cys) c.741G>T (p.Trp247Cys) c.354G>T (p.Trp118Cys) c.*323G>T (n.*323G>T) c.*274G>T (n.*274G>T) n.206G>T n.234G>T n.357G>T c.975G>T (p.Trp325Cys) | |
| 3 | g.33051966C>G | CA352001551 | GLB1 | c.831G>C (p.Trp277Cys) c.438G>C (p.Trp146Cys) c.741G>C (p.Trp247Cys) c.354G>C (p.Trp118Cys) c.*323G>C (n.*323G>C) c.*274G>C (n.*274G>C) n.206G>C n.234G>C n.357G>C c.975G>C (p.Trp325Cys) | |
| 3 | g.33051966C>T | CA352001548 | GLB1 | c.831G>A (p.Trp277Ter) c.438G>A (p.Trp146Ter) c.741G>A (p.Trp247Ter) c.354G>A (p.Trp118Ter) c.*323G>A (n.*323G>A) c.*274G>A (n.*274G>A) n.206G>A n.234G>A n.357G>A c.975G>A (p.Trp325Ter) | |
| 3 | g.33051967C>A | CA352001554 | GLB1 | c.830G>T (p.Trp277Leu) c.437G>T (p.Trp146Leu) c.740G>T (p.Trp247Leu) c.353G>T (p.Trp118Leu) c.*322G>T (n.*322G>T) c.*273G>T (n.*273G>T) n.205G>T n.233G>T n.356G>T c.974G>T (p.Trp325Leu) | |
| 3 | g.33051967C>G | CA352001556 | GLB1 | c.830G>C (p.Trp277Ser) c.437G>C (p.Trp146Ser) c.740G>C (p.Trp247Ser) c.353G>C (p.Trp118Ser) c.*322G>C (n.*322G>C) c.*273G>C (n.*273G>C) n.205G>C n.233G>C n.356G>C c.974G>C (p.Trp325Ser) | |
| 3 | g.33051967C>T | CA352001557 | GLB1 | c.830G>A (p.Trp277Ter) c.437G>A (p.Trp146Ter) c.740G>A (p.Trp247Ter) c.353G>A (p.Trp118Ter) c.*322G>A (n.*322G>A) c.*273G>A (n.*273G>A) n.205G>A n.233G>A n.356G>A c.974G>A (p.Trp325Ter) | |
| 3 | g.33051968A>C | CA352001560 | GLB1 | c.829T>G (p.Trp277Gly) c.436T>G (p.Trp146Gly) c.739T>G (p.Trp247Gly) c.352T>G (p.Trp118Gly) c.*321T>G (n.*321T>G) c.*272T>G (n.*272T>G) n.204T>G n.232T>G n.355T>G c.973T>G (p.Trp325Gly) | |
| 3 | g.33051968A>G | CA352001562 | GLB1 | c.829T>C (p.Trp277Arg) c.436T>C (p.Trp146Arg) c.739T>C (p.Trp247Arg) c.352T>C (p.Trp118Arg) c.*321T>C (n.*321T>C) c.*272T>C (n.*272T>C) n.204T>C n.232T>C n.355T>C c.973T>C (p.Trp325Arg) | |
| 3 | g.33051968A>T | CA352001564 | GLB1 | c.829T>A (p.Trp277Arg) c.436T>A (p.Trp146Arg) c.739T>A (p.Trp247Arg) c.352T>A (p.Trp118Arg) c.*321T>A (n.*321T>A) c.*272T>A (n.*272T>A) n.204T>A n.232T>A n.355T>A c.973T>A (p.Trp325Arg) | gnomAD v4 COSMIC |
| 3 | g.33051969G>A | CA432959481 | GLB1 | c.828C>T (p.His276=) c.435C>T (p.His145=) c.738C>T (p.His246=) c.351C>T (p.His117=) c.*320C>T (n.*320C>T) c.*271C>T (n.*271C>T) n.203C>T n.231C>T n.354C>T c.972C>T (p.His324=) | gnomAD v4 |
| 3 | g.33051969G>C | CA352001567 | GLB1 | c.828C>G (p.His276Gln) c.435C>G (p.His145Gln) c.738C>G (p.His246Gln) c.351C>G (p.His117Gln) c.*320C>G (n.*320C>G) c.*271C>G (n.*271C>G) n.203C>G n.231C>G n.354C>G c.972C>G (p.His324Gln) | |
| 3 | g.33051969G>T | CA352001568 | GLB1 | c.828C>A (p.His276Gln) c.435C>A (p.His145Gln) c.738C>A (p.His246Gln) c.351C>A (p.His117Gln) c.*320C>A (n.*320C>A) c.*271C>A (n.*271C>A) n.203C>A n.231C>A n.354C>A c.972C>A (p.His324Gln) | |
| 3 | g.33051970T>A | CA352001571 | GLB1 | c.827A>T (p.His276Leu) c.434A>T (p.His145Leu) c.737A>T (p.His246Leu) c.350A>T (p.His117Leu) c.*319A>T (n.*319A>T) c.*270A>T (n.*270A>T) n.202A>T n.230A>T n.353A>T c.971A>T (p.His324Leu) | |
| 3 | g.33051970T>C | CA352001572 | GLB1 | c.827A>G (p.His276Arg) c.434A>G (p.His145Arg) c.737A>G (p.His246Arg) c.350A>G (p.His117Arg) c.*319A>G (n.*319A>G) c.*270A>G (n.*270A>G) n.202A>G n.230A>G n.353A>G c.971A>G (p.His324Arg) | dbSNP gnomAD v4 |
| 3 | g.33051970T>G | CA352001574 | GLB1 | c.827A>C (p.His276Pro) c.434A>C (p.His145Pro) c.737A>C (p.His246Pro) c.350A>C (p.His117Pro) c.*319A>C (n.*319A>C) c.*270A>C (n.*270A>C) n.202A>C n.230A>C n.353A>C c.971A>C (p.His324Pro) | ClinVar dbSNP |
| 3 | g.33051970T= | CA1356001057 | GLB1 | c.827A= (p.His276=) c.434A= (p.His145=) c.737A= (p.His246=) c.350A= (p.His117=) c.*319A= (n.*319A=) c.*270A= (n.*270A=) n.202A= n.230A= n.353A= c.971A= (p.His324=) | |
| 3 | g.33051971G>A | CA352001577 | GLB1 | c.826C>T (p.His276Tyr) c.433C>T (p.His145Tyr) c.736C>T (p.His246Tyr) c.349C>T (p.His117Tyr) c.*318C>T (n.*318C>T) c.*269C>T (n.*269C>T) n.201C>T n.229C>T n.352C>T c.970C>T (p.His324Tyr) | gnomAD v4 |
| 3 | g.33051971G>C | CA352001579 | GLB1 | c.826C>G (p.His276Asp) c.433C>G (p.His145Asp) c.736C>G (p.His246Asp) c.349C>G (p.His117Asp) c.*318C>G (n.*318C>G) c.*269C>G (n.*269C>G) n.201C>G n.229C>G n.352C>G c.970C>G (p.His324Asp) | |
| 3 | g.33051971G>T | CA352001581 | GLB1 | c.826C>A (p.His276Asn) c.433C>A (p.His145Asn) c.736C>A (p.His246Asn) c.349C>A (p.His117Asn) c.*318C>A (n.*318C>A) c.*269C>A (n.*269C>A) n.201C>A n.229C>A n.352C>A c.970C>A (p.His324Asn) | |
| 3 | g.33051972A= | CA1356001058 | GLB1 | c.825T= (p.Asp275=) c.432T= (p.Asp144=) c.735T= (p.Asp245=) c.348T= (p.Asp116=) c.*317T= (n.*317T=) c.*268T= (n.*268T=) n.200T= n.228T= n.351T= c.969T= (p.Asp323=) | |
| 3 | g.33051972A>C | CA352001586 | GLB1 | c.825T>G (p.Asp275Glu) c.432T>G (p.Asp144Glu) c.735T>G (p.Asp245Glu) c.348T>G (p.Asp116Glu) c.*317T>G (n.*317T>G) c.*268T>G (n.*268T>G) n.200T>G n.228T>G n.351T>G c.969T>G (p.Asp323Glu) | |
| 3 | g.33051972A>G | CA432959482 | GLB1 | c.825T>C (p.Asp275=) c.432T>C (p.Asp144=) c.735T>C (p.Asp245=) c.348T>C (p.Asp116=) c.*317T>C (n.*317T>C) c.*268T>C (n.*268T>C) n.200T>C n.228T>C n.351T>C c.969T>C (p.Asp323=) | |
| 3 | g.33051972A>T | CA352001584 | GLB1 | c.825T>A (p.Asp275Glu) c.432T>A (p.Asp144Glu) c.735T>A (p.Asp245Glu) c.348T>A (p.Asp116Glu) c.*317T>A (n.*317T>A) c.*268T>A (n.*268T>A) n.200T>A n.228T>A n.351T>A c.969T>A (p.Asp323Glu) | ClinVar dbSNP |
| 3 | g.33051973T>A | CA352001588 | GLB1 | c.824A>T (p.Asp275Val) c.431A>T (p.Asp144Val) c.734A>T (p.Asp245Val) c.347A>T (p.Asp116Val) c.*316A>T (n.*316A>T) c.*267A>T (n.*267A>T) n.199A>T n.227A>T n.350A>T c.968A>T (p.Asp323Val) | |
| 3 | g.33051973T>C | CA352001590 | GLB1 | c.824A>G (p.Asp275Gly) c.431A>G (p.Asp144Gly) c.734A>G (p.Asp245Gly) c.347A>G (p.Asp116Gly) c.*316A>G (n.*316A>G) c.*267A>G (n.*267A>G) n.199A>G n.227A>G n.350A>G c.968A>G (p.Asp323Gly) | |
| 3 | g.33051973T>G | CA352001592 | GLB1 | c.824A>C (p.Asp275Ala) c.431A>C (p.Asp144Ala) c.734A>C (p.Asp245Ala) c.347A>C (p.Asp116Ala) c.*316A>C (n.*316A>C) c.*267A>C (n.*267A>C) n.199A>C n.227A>C n.350A>C c.968A>C (p.Asp323Ala) | |
| 3 | g.33051974C>A | CA352001593 | GLB1 | c.823G>T (p.Asp275Tyr) c.430G>T (p.Asp144Tyr) c.733G>T (p.Asp245Tyr) c.346G>T (p.Asp116Tyr) c.*315G>T (n.*315G>T) c.*266G>T (n.*266G>T) n.198G>T n.226G>T n.349G>T c.967G>T (p.Asp323Tyr) | |
| 3 | g.33051974C>G | CA352001595 | GLB1 | c.823G>C (p.Asp275His) c.430G>C (p.Asp144His) c.733G>C (p.Asp245His) c.346G>C (p.Asp116His) c.*315G>C (n.*315G>C) c.*266G>C (n.*266G>C) n.198G>C n.226G>C n.349G>C c.967G>C (p.Asp323His) | |
| 3 | g.33051974C>T | CA352001597 | GLB1 | c.823G>A (p.Asp275Asn) c.430G>A (p.Asp144Asn) c.733G>A (p.Asp245Asn) c.346G>A (p.Asp116Asn) c.*315G>A (n.*315G>A) c.*266G>A (n.*266G>A) n.198G>A n.226G>A n.349G>A c.967G>A (p.Asp323Asn) | |
| 3 | g.33051975T>A | CA432959483 | GLB1 | c.822A>T (p.Leu274=) c.429A>T (p.Leu143=) c.732A>T (p.Leu244=) c.345A>T (p.Leu115=) c.*314A>T (n.*314A>T) c.*265A>T (n.*265A>T) n.197A>T n.225A>T n.348A>T c.966A>T (p.Leu322=) | |
| 3 | g.33051975T>C | CA432959484 | GLB1 | c.822A>G (p.Leu274=) c.429A>G (p.Leu143=) c.732A>G (p.Leu244=) c.345A>G (p.Leu115=) c.*314A>G (n.*314A>G) c.*265A>G (n.*265A>G) n.197A>G n.225A>G n.348A>G c.966A>G (p.Leu322=) | gnomAD v4 |
| 3 | g.33051975T>G | CA432959485 | GLB1 | c.822A>C (p.Leu274=) c.429A>C (p.Leu143=) c.732A>C (p.Leu244=) c.345A>C (p.Leu115=) c.*314A>C (n.*314A>C) c.*265A>C (n.*265A>C) n.197A>C n.225A>C n.348A>C c.966A>C (p.Leu322=) | |
| 3 | g.33051976A= | CA1356001059 | GLB1 | c.821T= (p.Leu274=) c.428T= (p.Leu143=) c.731T= (p.Leu244=) c.344T= (p.Leu115=) c.*313T= (n.*313T=) c.*264T= (n.*264T=) n.196T= n.224T= n.347T= c.965T= (p.Leu322=) | |
| 3 | g.33051976A>C | CA352001605 | GLB1 | c.821T>G (p.Leu274Arg) c.428T>G (p.Leu143Arg) c.731T>G (p.Leu244Arg) c.344T>G (p.Leu115Arg) c.*313T>G (n.*313T>G) c.*264T>G (n.*264T>G) n.196T>G n.224T>G n.347T>G c.965T>G (p.Leu322Arg) | |
| 3 | g.33051976A>G | CA352001601 | GLB1 | c.821T>C (p.Leu274Pro) c.428T>C (p.Leu143Pro) c.731T>C (p.Leu244Pro) c.344T>C (p.Leu115Pro) c.*313T>C (n.*313T>C) c.*264T>C (n.*264T>C) n.196T>C n.224T>C n.347T>C c.965T>C (p.Leu322Pro) | ClinVar dbSNP gnomAD v4 |
| 3 | g.33051976A>T | CA352001603 | GLB1 | c.821T>A (p.Leu274Gln) c.428T>A (p.Leu143Gln) c.731T>A (p.Leu244Gln) c.344T>A (p.Leu115Gln) c.*313T>A (n.*313T>A) c.*264T>A (n.*264T>A) n.196T>A n.224T>A n.347T>A c.965T>A (p.Leu322Gln) | |
| 3 | g.33051977G>A | CA432959486 | GLB1 | c.820C>T (p.Leu274=) c.427C>T (p.Leu143=) c.730C>T (p.Leu244=) c.343C>T (p.Leu115=) c.*312C>T (n.*312C>T) c.*263C>T (n.*263C>T) n.195C>T n.223C>T n.346C>T c.964C>T (p.Leu322=) | |
| 3 | g.33051977G>C | CA352001607 | GLB1 | c.820C>G (p.Leu274Val) c.427C>G (p.Leu143Val) c.730C>G (p.Leu244Val) c.343C>G (p.Leu115Val) c.*312C>G (n.*312C>G) c.*263C>G (n.*263C>G) n.195C>G n.223C>G n.346C>G c.964C>G (p.Leu322Val) | |
| 3 | g.33051977G>T | CA352001610 | GLB1 | c.820C>A (p.Leu274Ile) c.427C>A (p.Leu143Ile) c.730C>A (p.Leu244Ile) c.343C>A (p.Leu115Ile) c.*312C>A (n.*312C>A) c.*263C>A (n.*263C>A) n.195C>A n.223C>A n.346C>A c.964C>A (p.Leu322Ile) | |
| 3 | g.33051978C>A | CA352001614 | GLB1 | c.819G>T (p.Trp273Cys) c.426G>T (p.Trp142Cys) c.729G>T (p.Trp243Cys) c.342G>T (p.Trp114Cys) c.*311G>T (n.*311G>T) c.*262G>T (n.*262G>T) n.194G>T n.222G>T n.345G>T c.963G>T (p.Trp321Cys) | |
| 3 | g.33051978C= | CA1356001060 | GLB1 | c.819G= (p.Trp273=) c.426G= (p.Trp142=) c.729G= (p.Trp243=) c.342G= (p.Trp114=) c.*311G= (n.*311G=) c.*262G= (n.*262G=) n.194G= n.222G= n.345G= c.963G= (p.Trp321=) | |
| 3 | g.33051978C>G | CA352001616 | GLB1 | c.819G>C (p.Trp273Cys) c.426G>C (p.Trp142Cys) c.729G>C (p.Trp243Cys) c.342G>C (p.Trp114Cys) c.*311G>C (n.*311G>C) c.*262G>C (n.*262G>C) n.194G>C n.222G>C n.345G>C c.963G>C (p.Trp321Cys) | |
| 3 | g.33051978C>T | CA352001617 | GLB1 | c.819G>A (p.Trp273Ter) c.426G>A (p.Trp142Ter) c.729G>A (p.Trp243Ter) c.342G>A (p.Trp114Ter) c.*311G>A (n.*311G>A) c.*262G>A (n.*262G>A) n.194G>A n.222G>A n.345G>A c.963G>A (p.Trp321Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.33051979C>A | CA114642 | GLB1 | c.818G>T (p.Trp273Leu) c.425G>T (p.Trp142Leu) c.728G>T (p.Trp243Leu) c.341G>T (p.Trp114Leu) c.*310G>T (n.*310G>T) c.*261G>T (n.*261G>T) n.193G>T n.221G>T n.344G>T c.962G>T (p.Trp321Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.33051979C= | CA1356001062 | GLB1 | c.818G= (p.Trp273=) c.425G= (p.Trp142=) c.728G= (p.Trp243=) c.341G= (p.Trp114=) c.*310G= (n.*310G=) c.*261G= (n.*261G=) n.193G= n.221G= n.344G= c.962G= (p.Trp321=) | |
| 3 | g.33051979C>G | CA352001620 | GLB1 | c.818G>C (p.Trp273Ser) c.425G>C (p.Trp142Ser) c.728G>C (p.Trp243Ser) c.341G>C (p.Trp114Ser) c.*310G>C (n.*310G>C) c.*261G>C (n.*261G>C) n.193G>C n.221G>C n.344G>C c.962G>C (p.Trp321Ser) | |
| 3 | g.33051979C>T | CA352001622 | GLB1 | c.818G>A (p.Trp273Ter) c.425G>A (p.Trp142Ter) c.728G>A (p.Trp243Ter) c.341G>A (p.Trp114Ter) c.*310G>A (n.*310G>A) c.*261G>A (n.*261G>A) n.193G>A n.221G>A n.344G>A c.962G>A (p.Trp321Ter) | |
| 3 | g.33051979_33051980delinsAG | CA891843340 | GLB1 | c.817_818delinsCT (p.Trp273Leu) c.424_425delinsCT (p.Trp142Leu) c.727_728delinsCT (p.Trp243Leu) c.340_341delinsCT (p.Trp114Leu) c.*309_*310delinsCT (n.*309_*310delinsCT) c.*260_*261delinsCT (n.*260_*261delinsCT) n.192_193delinsCT n.220_221delinsCT n.343_344delinsCT c.961_962delinsCT (p.Trp321Leu) | ClinVar dbSNP |
| 3 | g.33051979_33051980delinsCA | CA1356001061 | GLB1 | c.817_818delinsTG (p.Trp273=) c.424_425delinsTG (p.Trp142=) c.727_728delinsTG (p.Trp243=) c.340_341delinsTG (p.Trp114=) c.*309_*310delinsTG (n.*309_*310delinsTG) c.*260_*261delinsTG (n.*260_*261delinsTG) n.192_193delinsTG n.220_221delinsTG n.343_344delinsTG c.961_962delinsTG (p.Trp321=) | |
| 3 | g.33051980A= | CA1356001063 | GLB1 | c.817T= (p.Trp273=) c.424T= (p.Trp142=) c.727T= (p.Trp243=) c.340T= (p.Trp114=) c.*309T= (n.*309T=) c.*260T= (n.*260T=) n.192T= n.220T= n.343T= c.961T= (p.Trp321=) | |
| 3 | g.33051980A>C | CA352001626 | GLB1 | c.817T>G (p.Trp273Gly) c.424T>G (p.Trp142Gly) c.727T>G (p.Trp243Gly) c.340T>G (p.Trp114Gly) c.*309T>G (n.*309T>G) c.*260T>G (n.*260T>G) n.192T>G n.220T>G n.343T>G c.961T>G (p.Trp321Gly) | gnomAD v4 |
| 3 | g.33051980A>G | CA2299581 | GLB1 | c.817T>C (p.Trp273Arg) c.424T>C (p.Trp142Arg) c.727T>C (p.Trp243Arg) c.340T>C (p.Trp114Arg) c.*309T>C (n.*309T>C) c.*260T>C (n.*260T>C) n.192T>C n.220T>C n.343T>C c.961T>C (p.Trp321Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.33051980A>T | CA352001629 | GLB1 | c.817T>A (p.Trp273Arg) c.424T>A (p.Trp142Arg) c.727T>A (p.Trp243Arg) c.340T>A (p.Trp114Arg) c.*309T>A (n.*309T>A) c.*260T>A (n.*260T>A) n.192T>A n.220T>A n.343T>A c.961T>A (p.Trp321Arg) | |
| 3 | g.33051981G>A | CA432959487 | GLB1 | c.816C>T (p.Gly272=) c.423C>T (p.Gly141=) c.726C>T (p.Gly242=) c.339C>T (p.Gly113=) c.*308C>T (n.*308C>T) c.*259C>T (n.*259C>T) n.191C>T n.219C>T n.342C>T c.960C>T (p.Gly320=) | |
| 3 | g.33051981G>C | CA432959488 | GLB1 | c.816C>G (p.Gly272=) c.423C>G (p.Gly141=) c.726C>G (p.Gly242=) c.339C>G (p.Gly113=) c.*308C>G (n.*308C>G) c.*259C>G (n.*259C>G) n.191C>G n.219C>G n.342C>G c.960C>G (p.Gly320=) | |
| 3 | g.33051981G>T | CA432959489 | GLB1 | c.816C>A (p.Gly272=) c.423C>A (p.Gly141=) c.726C>A (p.Gly242=) c.339C>A (p.Gly113=) c.*308C>A (n.*308C>A) c.*259C>A (n.*259C>A) n.191C>A n.219C>A n.342C>A c.960C>A (p.Gly320=) | |
| 3 | g.33051982C>A | CA352001632 | GLB1 | c.815G>T (p.Gly272Val) c.422G>T (p.Gly141Val) c.725G>T (p.Gly242Val) c.338G>T (p.Gly113Val) c.*307G>T (n.*307G>T) c.*258G>T (n.*258G>T) n.190G>T n.218G>T n.341G>T c.959G>T (p.Gly320Val) | |
| 3 | g.33051982C>G | CA352001634 | GLB1 | c.815G>C (p.Gly272Ala) c.422G>C (p.Gly141Ala) c.725G>C (p.Gly242Ala) c.338G>C (p.Gly113Ala) c.*307G>C (n.*307G>C) c.*258G>C (n.*258G>C) n.190G>C n.218G>C n.341G>C c.959G>C (p.Gly320Ala) | |
| 3 | g.33051982C>T | CA352001636 | GLB1 | c.815G>A (p.Gly272Asp) c.422G>A (p.Gly141Asp) c.725G>A (p.Gly242Asp) c.338G>A (p.Gly113Asp) c.*307G>A (n.*307G>A) c.*258G>A (n.*258G>A) n.190G>A n.218G>A n.341G>A c.959G>A (p.Gly320Asp) | |
| 3 | g.33051983C>A | CA352001639 | GLB1 | c.814G>T (p.Gly272Cys) c.421G>T (p.Gly141Cys) c.724G>T (p.Gly242Cys) c.337G>T (p.Gly113Cys) c.*306G>T (n.*306G>T) c.*257G>T (n.*257G>T) n.189G>T n.217G>T n.340G>T c.958G>T (p.Gly320Cys) | |
| 3 | g.33051983C>G | CA352001641 | GLB1 | c.814G>C (p.Gly272Arg) c.421G>C (p.Gly141Arg) c.724G>C (p.Gly242Arg) c.337G>C (p.Gly113Arg) c.*306G>C (n.*306G>C) c.*257G>C (n.*257G>C) n.189G>C n.217G>C n.340G>C c.958G>C (p.Gly320Arg) | |
| 3 | g.33051983C>T | CA352001643 | GLB1 | c.814G>A (p.Gly272Ser) c.421G>A (p.Gly141Ser) c.724G>A (p.Gly242Ser) c.337G>A (p.Gly113Ser) c.*306G>A (n.*306G>A) c.*257G>A (n.*257G>A) n.189G>A n.217G>A n.340G>A c.958G>A (p.Gly320Ser) | |
| 3 | g.33051984A>C | CA432959490 | GLB1 | c.813T>G (p.Thr271=) c.420T>G (p.Thr140=) c.723T>G (p.Thr241=) c.336T>G (p.Thr112=) c.*305T>G (n.*305T>G) c.*256T>G (n.*256T>G) n.188T>G n.216T>G n.339T>G c.957T>G (p.Thr319=) | |
| 3 | g.33051984A>G | CA432959491 | GLB1 | c.813T>C (p.Thr271=) c.420T>C (p.Thr140=) c.723T>C (p.Thr241=) c.336T>C (p.Thr112=) c.*305T>C (n.*305T>C) c.*256T>C (n.*256T>C) n.188T>C n.216T>C n.339T>C c.957T>C (p.Thr319=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.33051984A>T | CA432959492 | GLB1 | c.813T>A (p.Thr271=) c.420T>A (p.Thr140=) c.723T>A (p.Thr241=) c.336T>A (p.Thr112=) c.*305T>A (n.*305T>A) c.*256T>A (n.*256T>A) n.188T>A n.216T>A n.339T>A c.957T>A (p.Thr319=) | |
| 3 | g.33051985G>A | CA352001645 | GLB1 | c.812C>T (p.Thr271Ile) c.419C>T (p.Thr140Ile) c.722C>T (p.Thr241Ile) c.335C>T (p.Thr112Ile) c.*304C>T (n.*304C>T) c.*255C>T (n.*255C>T) n.187C>T n.215C>T n.338C>T c.956C>T (p.Thr319Ile) | |
| 3 | g.33051985G>C | CA352001648 | GLB1 | c.812C>G (p.Thr271Ser) c.419C>G (p.Thr140Ser) c.722C>G (p.Thr241Ser) c.335C>G (p.Thr112Ser) c.*304C>G (n.*304C>G) c.*255C>G (n.*255C>G) n.187C>G n.215C>G n.338C>G c.956C>G (p.Thr319Ser) | |
| 3 | g.33051985G>T | CA352001650 | GLB1 | c.812C>A (p.Thr271Asn) c.419C>A (p.Thr140Asn) c.722C>A (p.Thr241Asn) c.335C>A (p.Thr112Asn) c.*304C>A (n.*304C>A) c.*255C>A (n.*255C>A) n.187C>A n.215C>A n.338C>A c.956C>A (p.Thr319Asn) | |
| 3 | g.33051986T>A | CA352001656 | GLB1 | c.811A>T (p.Thr271Ser) c.418A>T (p.Thr140Ser) c.721A>T (p.Thr241Ser) c.334A>T (p.Thr112Ser) c.*303A>T (n.*303A>T) c.*254A>T (n.*254A>T) n.186A>T n.214A>T n.337A>T c.955A>T (p.Thr319Ser) | |
| 3 | g.33051986T>C | CA352001654 | GLB1 | c.811A>G (p.Thr271Ala) c.418A>G (p.Thr140Ala) c.721A>G (p.Thr241Ala) c.334A>G (p.Thr112Ala) c.*303A>G (n.*303A>G) c.*254A>G (n.*254A>G) n.186A>G n.214A>G n.337A>G c.955A>G (p.Thr319Ala) | gnomAD v4 |
| 3 | g.33051986T>G | CA352001652 | GLB1 | c.811A>C (p.Thr271Pro) c.418A>C (p.Thr140Pro) c.721A>C (p.Thr241Pro) c.334A>C (p.Thr112Pro) c.*303A>C (n.*303A>C) c.*254A>C (n.*254A>C) n.186A>C n.214A>C n.337A>C c.955A>C (p.Thr319Pro) | dbSNP |
| 3 | g.33051986T= | CA1356001064 | GLB1 | c.811A= (p.Thr271=) c.418A= (p.Thr140=) c.721A= (p.Thr241=) c.334A= (p.Thr112=) c.*303A= (n.*303A=) c.*254A= (n.*254A=) n.186A= n.214A= n.337A= c.955A= (p.Thr319=) | |
| 3 | g.33051987A>C | CA352001659 | GLB1 | c.810T>G (p.Tyr270Ter) c.417T>G (p.Tyr139Ter) c.720T>G (p.Tyr240Ter) c.333T>G (p.Tyr111Ter) c.*302T>G (n.*302T>G) c.*253T>G (n.*253T>G) n.185T>G n.213T>G n.336T>G c.954T>G (p.Tyr318Ter) | |
| 3 | g.33051987A>G | CA432959493 | GLB1 | c.810T>C (p.Tyr270=) c.417T>C (p.Tyr139=) c.720T>C (p.Tyr240=) c.333T>C (p.Tyr111=) c.*302T>C (n.*302T>C) c.*253T>C (n.*253T>C) n.185T>C n.213T>C n.336T>C c.954T>C (p.Tyr318=) | |
| 3 | g.33051987A>T | CA352001661 | GLB1 | c.810T>A (p.Tyr270Ter) c.417T>A (p.Tyr139Ter) c.720T>A (p.Tyr240Ter) c.333T>A (p.Tyr111Ter) c.*302T>A (n.*302T>A) c.*253T>A (n.*253T>A) n.185T>A n.213T>A n.336T>A c.954T>A (p.Tyr318Ter) | |
| 3 | g.33051988T>A | CA352001663 | GLB1 | c.809A>T (p.Tyr270Phe) c.416A>T (p.Tyr139Phe) c.719A>T (p.Tyr240Phe) c.332A>T (p.Tyr111Phe) c.*301A>T (n.*301A>T) c.*252A>T (n.*252A>T) n.184A>T n.212A>T n.335A>T c.953A>T (p.Tyr318Phe) | |
| 3 | g.33051988T>C | CA203575 | GLB1 | c.809A>G (p.Tyr270Cys) c.416A>G (p.Tyr139Cys) c.719A>G (p.Tyr240Cys) c.332A>G (p.Tyr111Cys) c.*301A>G (n.*301A>G) c.*252A>G (n.*252A>G) n.184A>G n.212A>G n.335A>G c.953A>G (p.Tyr318Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.33051988T>G | CA247531 | GLB1 | c.809A>C (p.Tyr270Ser) c.416A>C (p.Tyr139Ser) c.719A>C (p.Tyr240Ser) c.332A>C (p.Tyr111Ser) c.*301A>C (n.*301A>C) c.*252A>C (n.*252A>C) n.184A>C n.212A>C n.335A>C c.953A>C (p.Tyr318Ser) | ClinVar dbSNP |
| 3 | g.33051988T= | CA1356001065 | GLB1 | c.809A= (p.Tyr270=) c.416A= (p.Tyr139=) c.719A= (p.Tyr240=) c.332A= (p.Tyr111=) c.*301A= (n.*301A=) c.*252A= (n.*252A=) n.184A= n.212A= n.335A= c.953A= (p.Tyr318=) | |
| 3 | g.33051989A= | CA1356001066 | GLB1 | c.808T= (p.Tyr270=) c.415T= (p.Tyr139=) c.718T= (p.Tyr240=) c.331T= (p.Tyr111=) c.*300T= (n.*300T=) c.*251T= (n.*251T=) n.183T= n.211T= n.334T= c.952T= (p.Tyr318=) | |
| 3 | g.33051989A>C | CA2299582 | GLB1 | c.808T>G (p.Tyr270Asp) c.415T>G (p.Tyr139Asp) c.718T>G (p.Tyr240Asp) c.331T>G (p.Tyr111Asp) c.*300T>G (n.*300T>G) c.*251T>G (n.*251T>G) n.183T>G n.211T>G n.334T>G c.952T>G (p.Tyr318Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.33051989A>G | CA352001669 | GLB1 | c.808T>C (p.Tyr270His) c.415T>C (p.Tyr139His) c.718T>C (p.Tyr240His) c.331T>C (p.Tyr111His) c.*300T>C (n.*300T>C) c.*251T>C (n.*251T>C) n.183T>C n.211T>C n.334T>C c.952T>C (p.Tyr318His) | ClinVar dbSNP |
| 3 | g.33051989A>T | CA352001672 | GLB1 | c.808T>A (p.Tyr270Asn) c.415T>A (p.Tyr139Asn) c.718T>A (p.Tyr240Asn) c.331T>A (p.Tyr111Asn) c.*300T>A (n.*300T>A) c.*251T>A (n.*251T>A) n.183T>A n.211T>A n.334T>A c.952T>A (p.Tyr318Asn) | |
| 3 | g.33051990G>A | CA432959494 | GLB1 | c.807C>T (p.Phe269=) c.414C>T (p.Phe138=) c.717C>T (p.Phe239=) c.330C>T (p.Phe110=) c.*299C>T (n.*299C>T) c.*250C>T (n.*250C>T) n.182C>T n.210C>T n.333C>T c.951C>T (p.Phe317=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.33051990G>C | CA352001674 | GLB1 | c.807C>G (p.Phe269Leu) c.414C>G (p.Phe138Leu) c.717C>G (p.Phe239Leu) c.330C>G (p.Phe110Leu) c.*299C>G (n.*299C>G) c.*250C>G (n.*250C>G) n.182C>G n.210C>G n.333C>G c.951C>G (p.Phe317Leu) | |
| 3 | g.33051990G= | CA1356001067 | GLB1 | c.807C= (p.Phe269=) c.414C= (p.Phe138=) c.717C= (p.Phe239=) c.330C= (p.Phe110=) c.*299C= (n.*299C=) c.*250C= (n.*250C=) n.182C= n.210C= n.333C= c.951C= (p.Phe317=) | |
| 3 | g.33051990G>T | CA352001676 | GLB1 | c.807C>A (p.Phe269Leu) c.414C>A (p.Phe138Leu) c.717C>A (p.Phe239Leu) c.330C>A (p.Phe110Leu) c.*299C>A (n.*299C>A) c.*250C>A (n.*250C>A) n.182C>A n.210C>A n.333C>A c.951C>A (p.Phe317Leu) | |
| 3 | g.33051991A= | CA1356001068 | GLB1 | c.806T= (p.Phe269=) c.413T= (p.Phe138=) c.716T= (p.Phe239=) c.329T= (p.Phe110=) c.*298T= (n.*298T=) c.*249T= (n.*249T=) n.181T= n.209T= n.332T= c.950T= (p.Phe317=) | |
| 3 | g.33051991A>C | CA352001680 | GLB1 | c.806T>G (p.Phe269Cys) c.413T>G (p.Phe138Cys) c.716T>G (p.Phe239Cys) c.329T>G (p.Phe110Cys) c.*298T>G (n.*298T>G) c.*249T>G (n.*249T>G) n.181T>G n.209T>G n.332T>G c.950T>G (p.Phe317Cys) | |
| 3 | g.33051991A>G | CA352001682 | GLB1 | c.806T>C (p.Phe269Ser) c.413T>C (p.Phe138Ser) c.716T>C (p.Phe239Ser) c.329T>C (p.Phe110Ser) c.*298T>C (n.*298T>C) c.*249T>C (n.*249T>C) n.181T>C n.209T>C n.332T>C c.950T>C (p.Phe317Ser) | ClinVar dbSNP |
| 3 | g.33051991A>T | CA352001684 | GLB1 | c.806T>A (p.Phe269Tyr) c.413T>A (p.Phe138Tyr) c.716T>A (p.Phe239Tyr) c.329T>A (p.Phe110Tyr) c.*298T>A (n.*298T>A) c.*249T>A (n.*249T>A) n.181T>A n.209T>A n.332T>A c.950T>A (p.Phe317Tyr) | |
| 3 | g.33051992A>C | CA352001690 | GLB1 | c.805T>G (p.Phe269Val) c.412T>G (p.Phe138Val) c.715T>G (p.Phe239Val) c.328T>G (p.Phe110Val) c.*297T>G (n.*297T>G) c.*248T>G (n.*248T>G) n.180T>G n.208T>G n.331T>G c.949T>G (p.Phe317Val) | |
| 3 | g.33051992A>G | CA352001692 | GLB1 | c.805T>C (p.Phe269Leu) c.412T>C (p.Phe138Leu) c.715T>C (p.Phe239Leu) c.328T>C (p.Phe110Leu) c.*297T>C (n.*297T>C) c.*248T>C (n.*248T>C) n.180T>C n.208T>C n.331T>C c.949T>C (p.Phe317Leu) | |
| 3 | g.33051992A>T | CA352001687 | GLB1 | c.805T>A (p.Phe269Ile) c.412T>A (p.Phe138Ile) c.715T>A (p.Phe239Ile) c.328T>A (p.Phe110Ile) c.*297T>A (n.*297T>A) c.*248T>A (n.*248T>A) n.180T>A n.208T>A n.331T>A c.949T>A (p.Phe317Ile) | |
| 3 | g.33051993T>A | CA352001695 | GLB1 | c.804A>T (p.Glu268Asp) c.411A>T (p.Glu137Asp) c.714A>T (p.Glu238Asp) c.327A>T (p.Glu109Asp) c.*296A>T (n.*296A>T) c.*247A>T (n.*247A>T) n.179A>T n.207A>T n.330A>T c.948A>T (p.Glu316Asp) | |
| 3 | g.33051993T>C | CA2299583 | GLB1 | c.804A>G (p.Glu268=) c.411A>G (p.Glu137=) c.714A>G (p.Glu238=) c.327A>G (p.Glu109=) c.*296A>G (n.*296A>G) c.*247A>G (n.*247A>G) n.179A>G n.207A>G n.330A>G c.948A>G (p.Glu316=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.33051993T>G | CA352001697 | GLB1 | c.804A>C (p.Glu268Asp) c.411A>C (p.Glu137Asp) c.714A>C (p.Glu238Asp) c.327A>C (p.Glu109Asp) c.*296A>C (n.*296A>C) c.*247A>C (n.*247A>C) n.179A>C n.207A>C n.330A>C c.948A>C (p.Glu316Asp) | |
| 3 | g.33051993T= | CA1356001069 | GLB1 | c.804A= (p.Glu268=) c.411A= (p.Glu137=) c.714A= (p.Glu238=) c.327A= (p.Glu109=) c.*296A= (n.*296A=) c.*247A= (n.*247A=) n.179A= n.207A= n.330A= c.948A= (p.Glu316=) | |
| 3 | g.33051994T>A | CA352001701 | GLB1 | c.803A>T (p.Glu268Val) c.410A>T (p.Glu137Val) c.713A>T (p.Glu238Val) c.326A>T (p.Glu109Val) c.*295A>T (n.*295A>T) c.*246A>T (n.*246A>T) n.178A>T n.206A>T n.329A>T c.947A>T (p.Glu316Val) | |
| 3 | g.33051994T>C | CA352001703 | GLB1 | c.803A>G (p.Glu268Gly) c.410A>G (p.Glu137Gly) c.713A>G (p.Glu238Gly) c.326A>G (p.Glu109Gly) c.*295A>G (n.*295A>G) c.*246A>G (n.*246A>G) n.178A>G n.206A>G n.329A>G c.947A>G (p.Glu316Gly) | |
| 3 | g.33051994T>G | CA352001705 | GLB1 | c.803A>C (p.Glu268Ala) c.410A>C (p.Glu137Ala) c.713A>C (p.Glu238Ala) c.326A>C (p.Glu109Ala) c.*295A>C (n.*295A>C) c.*246A>C (n.*246A>C) n.178A>C n.206A>C n.329A>C c.947A>C (p.Glu316Ala) | |
| 3 | g.33051995C>A | CA352001709 | GLB1 | c.802G>T (p.Glu268Ter) c.409G>T (p.Glu137Ter) c.712G>T (p.Glu238Ter) c.325G>T (p.Glu109Ter) c.*294G>T (n.*294G>T) c.*245G>T (n.*245G>T) n.177G>T n.205G>T n.328G>T c.946G>T (p.Glu316Ter) | |
| 3 | g.33051995C>G | CA352001711 | GLB1 | c.802G>C (p.Glu268Gln) c.409G>C (p.Glu137Gln) c.712G>C (p.Glu238Gln) c.325G>C (p.Glu109Gln) c.*294G>C (n.*294G>C) c.*245G>C (n.*245G>C) n.177G>C n.205G>C n.328G>C c.946G>C (p.Glu316Gln) | ClinVar gnomAD v4 |
| 3 | g.33051995C>T | CA352001713 | GLB1 | c.802G>A (p.Glu268Lys) c.409G>A (p.Glu137Lys) c.712G>A (p.Glu238Lys) c.325G>A (p.Glu109Lys) c.*294G>A (n.*294G>A) c.*245G>A (n.*245G>A) n.177G>A n.205G>A n.328G>A c.946G>A (p.Glu316Lys) | |
| 3 | g.33051996A>C | CA432959497 | GLB1 | c.801T>G (p.Ser267=) c.408T>G (p.Ser136=) c.711T>G (p.Ser237=) c.324T>G (p.Ser108=) c.*293T>G (n.*293T>G) c.*244T>G (n.*244T>G) n.176T>G n.204T>G n.327T>G c.945T>G (p.Ser315=) | gnomAD v4 |
| 3 | g.33051996A>G | CA432959498 | GLB1 | c.801T>C (p.Ser267=) c.408T>C (p.Ser136=) c.711T>C (p.Ser237=) c.324T>C (p.Ser108=) c.*293T>C (n.*293T>C) c.*244T>C (n.*244T>C) n.176T>C n.204T>C n.327T>C c.945T>C (p.Ser315=) | |
| 3 | g.33051996A>T | CA432959499 | GLB1 | c.801T>A (p.Ser267=) c.408T>A (p.Ser136=) c.711T>A (p.Ser237=) c.324T>A (p.Ser108=) c.*293T>A (n.*293T>A) c.*244T>A (n.*244T>A) n.176T>A n.204T>A n.327T>A c.945T>A (p.Ser315=) | |
| 3 | g.33051997G>A | CA352001717 | GLB1 | c.800C>T (p.Ser267Phe) c.407C>T (p.Ser136Phe) c.710C>T (p.Ser237Phe) c.323C>T (p.Ser108Phe) c.*292C>T (n.*292C>T) c.*243C>T (n.*243C>T) n.175C>T n.203C>T n.326C>T c.944C>T (p.Ser315Phe) | |
| 3 | g.33051997G>C | CA2299584 | GLB1 | c.800C>G (p.Ser267Cys) c.407C>G (p.Ser136Cys) c.710C>G (p.Ser237Cys) c.323C>G (p.Ser108Cys) c.*292C>G (n.*292C>G) c.*243C>G (n.*243C>G) n.175C>G n.203C>G n.326C>G c.944C>G (p.Ser315Cys) | dbSNP ExAC gnomAD v2 |
| 3 | g.33051997G= | CA1356001070 | GLB1 | c.800C= (p.Ser267=) c.407C= (p.Ser136=) c.710C= (p.Ser237=) c.323C= (p.Ser108=) c.*292C= (n.*292C=) c.*243C= (n.*243C=) n.175C= n.203C= n.326C= c.944C= (p.Ser315=) | |
| 3 | g.33051997G>T | CA352001720 | GLB1 | c.800C>A (p.Ser267Tyr) c.407C>A (p.Ser136Tyr) c.710C>A (p.Ser237Tyr) c.323C>A (p.Ser108Tyr) c.*292C>A (n.*292C>A) c.*243C>A (n.*243C>A) n.175C>A n.203C>A n.326C>A c.944C>A (p.Ser315Tyr) |