Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.81646394_81649923del | CA2580101946 | GBE1 | c.433_782+3del c.310_659+3del | |
3 | g.81646404A= | CA1378729102 | GBE1 | c.770T= (p.Phe257=) c.647T= (p.Phe216=) n.320T= | |
3 | g.81646404A>C | CA353688014 | GBE1 | c.770T>G (p.Phe257Cys) c.647T>G (p.Phe216Cys) n.320T>G | |
3 | g.81646404A>G | CA353688015 | GBE1 | c.770T>C (p.Phe257Ser) c.647T>C (p.Phe216Ser) n.320T>C | ClinVar dbSNP |
3 | g.81646404A>T | CA353688016 | GBE1 | c.770T>A (p.Phe257Tyr) c.647T>A (p.Phe216Tyr) n.320T>A | |
3 | g.81646405A>C | CA353688019 | GBE1 | c.769T>G (p.Phe257Val) c.646T>G (p.Phe216Val) n.319T>G | |
3 | g.81646405A>G | CA353688018 | GBE1 | c.769T>C (p.Phe257Leu) c.646T>C (p.Phe216Leu) n.319T>C | |
3 | g.81646405A>T | CA353688017 | GBE1 | c.769T>A (p.Phe257Ile) c.646T>A (p.Phe216Ile) n.319T>A | |
3 | g.81646406G>A | CA434493948 | GBE1 | c.768C>T (p.Phe256=) c.645C>T (p.Phe215=) n.318C>T | ClinVar dbSNP |
3 | g.81646406G>C | CA353688020 | GBE1 | c.768C>G (p.Phe256Leu) c.645C>G (p.Phe215Leu) n.318C>G | |
3 | g.81646406G= | CA1378729103 | GBE1 | c.768C= (p.Phe256=) c.645C= (p.Phe215=) n.318C= | |
3 | g.81646406G>T | CA353688021 | GBE1 | c.768C>A (p.Phe256Leu) c.645C>A (p.Phe215Leu) n.318C>A | |
3 | g.81646407A>C | CA353688022 | GBE1 | c.767T>G (p.Phe256Cys) c.644T>G (p.Phe215Cys) n.317T>G | |
3 | g.81646407A>G | CA353688023 | GBE1 | c.767T>C (p.Phe256Ser) c.644T>C (p.Phe215Ser) n.317T>C | |
3 | g.81646407A>T | CA353688024 | GBE1 | c.767T>A (p.Phe256Tyr) c.644T>A (p.Phe215Tyr) n.317T>A | |
3 | g.81646408A>C | CA353688025 | GBE1 | c.766T>G (p.Phe256Val) c.643T>G (p.Phe215Val) n.316T>G | COSMIC COSMIC |
3 | g.81646408A>G | CA353688026 | GBE1 | c.766T>C (p.Phe256Leu) c.643T>C (p.Phe215Leu) n.316T>C | |
3 | g.81646408A>T | CA353688027 | GBE1 | c.766T>A (p.Phe256Ile) c.643T>A (p.Phe215Ile) n.316T>A | |
3 | g.81646409G>A | CA434493949 | GBE1 | c.765C>T (p.Ser255=) c.642C>T (p.Ser214=) n.315C>T | gnomAD v4 |
3 | g.81646409G>C | CA353688028 | GBE1 | c.765C>G (p.Ser255Arg) c.642C>G (p.Ser214Arg) n.315C>G | gnomAD v4 |
3 | g.81646409G>T | CA353688029 | GBE1 | c.765C>A (p.Ser255Arg) c.642C>A (p.Ser214Arg) n.315C>A | gnomAD v4 |
3 | g.81646410C>A | CA353688030 | GBE1 | c.764G>T (p.Ser255Ile) c.641G>T (p.Ser214Ile) n.314G>T | |
3 | g.81646410C= | CA1378729104 | GBE1 | c.764G= (p.Ser255=) c.641G= (p.Ser214=) n.314G= | |
3 | g.81646410C>G | CA353688031 | GBE1 | c.764G>C (p.Ser255Thr) c.641G>C (p.Ser214Thr) n.314G>C | gnomAD v4 |
3 | g.81646410C>T | CA353688032 | GBE1 | c.764G>A (p.Ser255Asn) c.641G>A (p.Ser214Asn) n.314G>A | dbSNP gnomAD v2 gnomAD v4 |
3 | g.81646411T>A | CA353688033 | GBE1 | c.763A>T (p.Ser255Cys) c.640A>T (p.Ser214Cys) n.313A>T | |
3 | g.81646411T>C | CA353688034 | GBE1 | c.763A>G (p.Ser255Gly) c.640A>G (p.Ser214Gly) n.313A>G | |
3 | g.81646411T>G | CA353688035 | GBE1 | c.763A>C (p.Ser255Arg) c.640A>C (p.Ser214Arg) n.313A>C | |
3 | g.81646412T>A | CA434493950 | GBE1 | c.762A>T (p.Thr254=) c.639A>T (p.Thr213=) n.312A>T | |
3 | g.81646412T>C | CA434493951 | GBE1 | c.762A>G (p.Thr254=) c.639A>G (p.Thr213=) n.312A>G | ClinVar |
3 | g.81646412T>G | CA434493952 | GBE1 | c.762A>C (p.Thr254=) c.639A>C (p.Thr213=) n.312A>C | |
3 | g.81646413G>A | CA353688036 | GBE1 | c.761C>T (p.Thr254Ile) c.638C>T (p.Thr213Ile) n.311C>T | |
3 | g.81646413G>C | CA353688038 | GBE1 | c.761C>G (p.Thr254Arg) c.638C>G (p.Thr213Arg) n.311C>G | |
3 | g.81646413G>T | CA353688037 | GBE1 | c.761C>A (p.Thr254Lys) c.638C>A (p.Thr213Lys) n.311C>A | |
3 | g.81646414T>A | CA353688039 | GBE1 | c.760A>T (p.Thr254Ser) c.637A>T (p.Thr213Ser) n.310A>T | |
3 | g.81646414T>C | CA2499872 | GBE1 | c.760A>G (p.Thr254Ala) c.637A>G (p.Thr213Ala) n.310A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.81646414T>G | CA353688040 | GBE1 | c.760A>C (p.Thr254Pro) c.637A>C (p.Thr213Pro) n.310A>C | |
3 | g.81646414T= | CA1378729105 | GBE1 | c.760A= (p.Thr254=) c.637A= (p.Thr213=) n.310A= | |
3 | g.81646415G>A | CA434493953 | GBE1 | c.759C>T (p.Ile253=) c.636C>T (p.Ile212=) n.309C>T | |
3 | g.81646415G>C | CA353688041 | GBE1 | c.759C>G (p.Ile253Met) c.636C>G (p.Ile212Met) n.309C>G | |
3 | g.81646415G>T | CA434493954 | GBE1 | c.759C>A (p.Ile253=) c.636C>A (p.Ile212=) n.309C>A | |
3 | g.81646416A>C | CA353688042 | GBE1 | c.758T>G (p.Ile253Ser) c.635T>G (p.Ile212Ser) n.308T>G | |
3 | g.81646416A>G | CA353688043 | GBE1 | c.758T>C (p.Ile253Thr) c.635T>C (p.Ile212Thr) n.308T>C | |
3 | g.81646416A>T | CA353688044 | GBE1 | c.758T>A (p.Ile253Asn) c.635T>A (p.Ile212Asn) n.308T>A | |
3 | g.81646417T>A | CA353688045 | GBE1 | c.757A>T (p.Ile253Phe) c.634A>T (p.Ile212Phe) n.307A>T | |
3 | g.81646417T>C | CA353688046 | GBE1 | c.757A>G (p.Ile253Val) c.634A>G (p.Ile212Val) n.307A>G | ClinVar dbSNP |
3 | g.81646417T>G | CA353688047 | GBE1 | c.757A>C (p.Ile253Leu) c.634A>C (p.Ile212Leu) n.307A>C | |
3 | g.81646418T>A | CA353688048 | GBE1 | c.756A>T (p.Gln252His) c.633A>T (p.Gln211His) n.306A>T | |
3 | g.81646418T>C | CA434493955 | GBE1 | c.756A>G (p.Gln252=) c.633A>G (p.Gln211=) n.306A>G | |
3 | g.81646418T>G | CA353688049 | GBE1 | c.756A>C (p.Gln252His) c.633A>C (p.Gln211His) n.306A>C | |
3 | g.81646418_81646419delinsG | CA2695197944 | GBE1 | c.755_756delinsC (p.Gln252ProfsTer22) c.632_633delinsC (p.Gln211ProfsTer22) n.305_306delinsC | ClinVar |
3 | g.81646419T>A | CA353688050 | GBE1 | c.755A>T (p.Gln252Leu) c.632A>T (p.Gln211Leu) n.305A>T | |
3 | g.81646419T>C | CA353688052 | GBE1 | c.755A>G (p.Gln252Arg) c.632A>G (p.Gln211Arg) n.305A>G | gnomAD v4 |
3 | g.81646419T>G | CA353688051 | GBE1 | c.755A>C (p.Gln252Pro) c.632A>C (p.Gln211Pro) n.305A>C | |
3 | g.81646420G>A | CA353688053 | GBE1 | c.754C>T (p.Gln252Ter) c.631C>T (p.Gln211Ter) n.304C>T | ClinVar |
3 | g.81646420G>C | CA353688054 | GBE1 | c.754C>G (p.Gln252Glu) c.631C>G (p.Gln211Glu) n.304C>G | |
3 | g.81646420G>T | CA353688055 | GBE1 | c.754C>A (p.Gln252Lys) c.631C>A (p.Gln211Lys) n.304C>A | gnomAD v4 |
3 | g.81646421G>A | CA434493956 | GBE1 | c.753C>T (p.Tyr251=) c.630C>T (p.Tyr210=) n.303C>T | |
3 | g.81646421G>C | CA353688056 | GBE1 | c.753C>G (p.Tyr251Ter) c.630C>G (p.Tyr210Ter) n.303C>G | ClinVar |
3 | g.81646421G= | CA1378729106 | GBE1 | c.753C= (p.Tyr251=) c.630C= (p.Tyr210=) n.303C= | |
3 | g.81646421G>T | CA353688057 | GBE1 | c.753C>A (p.Tyr251Ter) c.630C>A (p.Tyr210Ter) n.303C>A | dbSNP |
3 | g.81646422T>A | CA353688060 | GBE1 | c.752A>T (p.Tyr251Phe) c.629A>T (p.Tyr210Phe) n.302A>T | |
3 | g.81646422T>C | CA353688059 | GBE1 | c.752A>G (p.Tyr251Cys) c.629A>G (p.Tyr210Cys) n.302A>G | |
3 | g.81646422T>G | CA353688058 | GBE1 | c.752A>C (p.Tyr251Ser) c.629A>C (p.Tyr210Ser) n.302A>C | |
3 | g.81646423A>C | CA353688061 | GBE1 | c.751T>G (p.Tyr251Asp) c.628T>G (p.Tyr210Asp) n.301T>G | |
3 | g.81646423A>G | CA353688062 | GBE1 | c.751T>C (p.Tyr251His) c.628T>C (p.Tyr210His) n.301T>C | |
3 | g.81646423A>T | CA353688063 | GBE1 | c.751T>A (p.Tyr251Asn) c.628T>A (p.Tyr210Asn) n.301T>A | |
3 | g.81646424A>C | CA434493957 | GBE1 | c.750T>G (p.Gly250=) c.627T>G (p.Gly209=) n.300T>G | |
3 | g.81646424A>G | CA434493959 | GBE1 | c.750T>C (p.Gly250=) c.627T>C (p.Gly209=) n.300T>C | |
3 | g.81646424A>T | CA434493958 | GBE1 | c.750T>A (p.Gly250=) c.627T>A (p.Gly209=) n.300T>A | |
3 | g.81646425C>A | CA353688064 | GBE1 | c.749G>T (p.Gly250Val) c.626G>T (p.Gly209Val) n.299G>T | |
3 | g.81646425C>G | CA353688065 | GBE1 | c.749G>C (p.Gly250Ala) c.626G>C (p.Gly209Ala) n.299G>C | COSMIC COSMIC |
3 | g.81646425C>T | CA353688066 | GBE1 | c.749G>A (p.Gly250Asp) c.626G>A (p.Gly209Asp) n.299G>A | |
3 | g.81646426C>A | CA353688067 | GBE1 | c.748G>T (p.Gly250Cys) c.625G>T (p.Gly209Cys) n.298G>T | ClinVar |
3 | g.81646426C>G | CA353688069 | GBE1 | c.748G>C (p.Gly250Arg) c.625G>C (p.Gly209Arg) n.298G>C | |
3 | g.81646426C>T | CA353688068 | GBE1 | c.748G>A (p.Gly250Ser) c.625G>A (p.Gly209Ser) n.298G>A | |
3 | g.81646427A>C | CA353688070 | GBE1 | c.747T>G (p.Phe249Leu) c.624T>G (p.Phe208Leu) n.297T>G | |
3 | g.81646427A>G | CA434493960 | GBE1 | c.747T>C (p.Phe249=) c.624T>C (p.Phe208=) n.297T>C | |
3 | g.81646427A>T | CA353688071 | GBE1 | c.747T>A (p.Phe249Leu) c.624T>A (p.Phe208Leu) n.297T>A | |
3 | g.81646428A= | CA1378729107 | GBE1 | c.746T= (p.Phe249=) c.623T= (p.Phe208=) n.296T= | |
3 | g.81646428A>C | CA353688072 | GBE1 | c.746T>G (p.Phe249Cys) c.623T>G (p.Phe208Cys) n.296T>G | COSMIC COSMIC |
3 | g.81646428A>G | CA353688073 | GBE1 | c.746T>C (p.Phe249Ser) c.623T>C (p.Phe208Ser) n.296T>C | dbSNP gnomAD v2 gnomAD v4 |
3 | g.81646428A>T | CA353688074 | GBE1 | c.746T>A (p.Phe249Tyr) c.623T>A (p.Phe208Tyr) n.296T>A | |
3 | g.81646429A= | CA1378729108 | GBE1 | c.745T= (p.Phe249=) c.622T= (p.Phe208=) n.295T= | |
3 | g.81646429A>C | CA353688075 | GBE1 | c.745T>G (p.Phe249Val) c.622T>G (p.Phe208Val) n.295T>G | |
3 | g.81646429A>G | CA353688076 | GBE1 | c.745T>C (p.Phe249Leu) c.622T>C (p.Phe208Leu) n.295T>C | dbSNP gnomAD v3 gnomAD v4 |
3 | g.81646429A>T | CA353688077 | GBE1 | c.745T>A (p.Phe249Ile) c.622T>A (p.Phe208Ile) n.295T>A | |
3 | g.81646430G>A | CA434493961 | GBE1 | c.744C>T (p.Ser248=) c.621C>T (p.Ser207=) n.294C>T | |
3 | g.81646430G>C | CA2499873 | GBE1 | c.744C>G (p.Ser248Arg) c.621C>G (p.Ser207Arg) n.294C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.81646430G= | CA1378729109 | GBE1 | c.744C= (p.Ser248=) c.621C= (p.Ser207=) n.294C= | |
3 | g.81646430G>T | CA353688078 | GBE1 | c.744C>A (p.Ser248Arg) c.621C>A (p.Ser207Arg) n.294C>A | |
3 | g.81646431C>A | CA353688079 | GBE1 | c.743G>T (p.Ser248Ile) c.620G>T (p.Ser207Ile) n.293G>T | |
3 | g.81646431C>G | CA353688081 | GBE1 | c.743G>C (p.Ser248Thr) c.620G>C (p.Ser207Thr) n.293G>C | |
3 | g.81646431C>T | CA353688080 | GBE1 | c.743G>A (p.Ser248Asn) c.620G>A (p.Ser207Asn) n.293G>A | |
3 | g.81646432T>A | CA353688082 | GBE1 | c.742A>T (p.Ser248Cys) c.619A>T (p.Ser207Cys) n.292A>T | |
3 | g.81646432T>C | CA353688084 | GBE1 | c.742A>G (p.Ser248Gly) c.619A>G (p.Ser207Gly) n.292A>G | |
3 | g.81646432T>G | CA353688083 | GBE1 | c.742A>C (p.Ser248Arg) c.619A>C (p.Ser207Arg) n.292A>C | |
3 | g.81646433G>A | CA434493962 | GBE1 | c.741C>T (p.Ala247=) c.618C>T (p.Ala206=) n.291C>T | gnomAD v4 |
3 | g.81646433G>C | CA434493963 | GBE1 | c.741C>G (p.Ala247=) c.618C>G (p.Ala206=) n.291C>G | |
3 | g.81646433G>T | CA434493964 | GBE1 | c.741C>A (p.Ala247=) c.618C>A (p.Ala206=) n.291C>A | |
3 | g.81646434del | CA2666623889 | GBE1 | c.741del (p.Ser248AlafsTer26) c.618del (p.Ser207AlafsTer26) n.291del | gnomAD v4 |
3 | g.81646434G>A | CA353688085 | GBE1 | c.740C>T (p.Ala247Val) c.617C>T (p.Ala206Val) n.290C>T | COSMIC COSMIC |
3 | g.81646434G>C | CA353688086 | GBE1 | c.740C>G (p.Ala247Gly) c.617C>G (p.Ala206Gly) n.290C>G | gnomAD v4 |
3 | g.81646434G>T | CA353688087 | GBE1 | c.740C>A (p.Ala247Asp) c.617C>A (p.Ala206Asp) n.290C>A | |
3 | g.81646435C>A | CA353688088 | GBE1 | c.739G>T (p.Ala247Ser) c.616G>T (p.Ala206Ser) n.289G>T | |
3 | g.81646435C>G | CA353688089 | GBE1 | c.739G>C (p.Ala247Pro) c.616G>C (p.Ala206Pro) n.289G>C | |
3 | g.81646435C>T | CA353688090 | GBE1 | c.739G>A (p.Ala247Thr) c.616G>A (p.Ala206Thr) n.289G>A | dbSNP gnomAD v3 gnomAD v4 |
3 | g.81646436A= | CA1378729110 | GBE1 | c.738T= (p.Tyr246=) c.615T= (p.Tyr205=) n.288T= | |
3 | g.81646436A>C | CA353688091 | GBE1 | c.738T>G (p.Tyr246Ter) c.615T>G (p.Tyr205Ter) n.288T>G | |
3 | g.81646436A>G | CA434493965 | GBE1 | c.738T>C (p.Tyr246=) c.615T>C (p.Tyr205=) n.288T>C | dbSNP |
3 | g.81646436A>T | CA353688092 | GBE1 | c.738T>A (p.Tyr246Ter) c.615T>A (p.Tyr205Ter) n.288T>A | |
3 | g.81646437T>A | CA353688093 | GBE1 | c.737A>T (p.Tyr246Phe) c.614A>T (p.Tyr205Phe) n.287A>T | |
3 | g.81646437T>C | CA353688094 | GBE1 | c.737A>G (p.Tyr246Cys) c.614A>G (p.Tyr205Cys) n.287A>G | |
3 | g.81646437T>G | CA353688095 | GBE1 | c.737A>C (p.Tyr246Ser) c.614A>C (p.Tyr205Ser) n.287A>C | dbSNP |
3 | g.81646437T= | CA1378729111 | GBE1 | c.737A= (p.Tyr246=) c.614A= (p.Tyr205=) n.287A= | |
3 | g.81646438A>C | CA353688096 | GBE1 | c.736T>G (p.Tyr246Asp) c.613T>G (p.Tyr205Asp) n.286T>G | |
3 | g.81646438A>G | CA353688097 | GBE1 | c.736T>C (p.Tyr246His) c.613T>C (p.Tyr205His) n.286T>C | |
3 | g.81646438A>T | CA353688098 | GBE1 | c.736T>A (p.Tyr246Asn) c.613T>A (p.Tyr205Asn) n.286T>A | |
3 | g.81646439G>A | CA434493966 | GBE1 | c.735C>T (p.Tyr245=) c.612C>T (p.Tyr204=) n.285C>T | dbSNP gnomAD v4 |
3 | g.81646439G>C | CA353688099 | GBE1 | c.735C>G (p.Tyr245Ter) c.612C>G (p.Tyr204Ter) n.285C>G | |
3 | g.81646439G= | CA1378729112 | GBE1 | c.735C= (p.Tyr245=) c.612C= (p.Tyr204=) n.285C= | |
3 | g.81646439G>T | CA353688100 | GBE1 | c.735C>A (p.Tyr245Ter) c.612C>A (p.Tyr204Ter) n.285C>A | |
3 | g.81646440T>A | CA353688101 | GBE1 | c.734A>T (p.Tyr245Phe) c.611A>T (p.Tyr204Phe) n.284A>T | |
3 | g.81646440T>C | CA353688102 | GBE1 | c.734A>G (p.Tyr245Cys) c.611A>G (p.Tyr204Cys) n.284A>G | |
3 | g.81646440T>G | CA353688103 | GBE1 | c.734A>C (p.Tyr245Ser) c.611A>C (p.Tyr204Ser) n.284A>C | |
3 | g.81646441A>C | CA353688104 | GBE1 | c.733T>G (p.Tyr245Asp) c.610T>G (p.Tyr204Asp) n.283T>G | gnomAD v4 |
3 | g.81646441A>G | CA353688105 | GBE1 | c.733T>C (p.Tyr245His) c.610T>C (p.Tyr204His) n.283T>C | ClinVar dbSNP gnomAD v4 |
3 | g.81646441A>T | CA353688106 | GBE1 | c.733T>A (p.Tyr245Asn) c.610T>A (p.Tyr204Asn) n.283T>A | |
3 | g.81646442A>C | CA434493967 | GBE1 | c.732T>G (p.Ala244=) c.609T>G (p.Ala203=) n.282T>G | |
3 | g.81646442A>G | CA434493968 | GBE1 | c.732T>C (p.Ala244=) c.609T>C (p.Ala203=) n.282T>C | |
3 | g.81646442A>T | CA434493969 | GBE1 | c.732T>A (p.Ala244=) c.609T>A (p.Ala203=) n.282T>A | |
3 | g.81646443G>A | CA353688107 | GBE1 | c.731C>T (p.Ala244Val) c.608C>T (p.Ala203Val) n.281C>T | dbSNP |
3 | g.81646443G>C | CA353688108 | GBE1 | c.731C>G (p.Ala244Gly) c.608C>G (p.Ala203Gly) n.281C>G | gnomAD v4 |
3 | g.81646443G= | CA1378729113 | GBE1 | c.731C= (p.Ala244=) c.608C= (p.Ala203=) n.281C= | |
3 | g.81646443G>T | CA353688109 | GBE1 | c.731C>A (p.Ala244Asp) c.608C>A (p.Ala203Asp) n.281C>A | |
3 | g.81646444C>A | CA353688110 | GBE1 | c.730G>T (p.Ala244Ser) c.607G>T (p.Ala203Ser) n.280G>T | |
3 | g.81646444C>G | CA353688111 | GBE1 | c.730G>C (p.Ala244Pro) c.607G>C (p.Ala203Pro) n.280G>C | |
3 | g.81646444C>T | CA353688112 | GBE1 | c.730G>A (p.Ala244Thr) c.607G>A (p.Ala203Thr) n.280G>A | gnomAD v4 |
3 | g.81646445A>C | CA353688114 | GBE1 | c.729T>G (p.His243Gln) c.606T>G (p.His202Gln) n.279T>G | |
3 | g.81646445A>G | CA434493970 | GBE1 | c.729T>C (p.His243=) c.606T>C (p.His202=) n.279T>C | |
3 | g.81646445A>T | CA353688113 | GBE1 | c.729T>A (p.His243Gln) c.606T>A (p.His202Gln) n.279T>A | |
3 | g.81646446T>A | CA353688115 | GBE1 | c.728A>T (p.His243Leu) c.605A>T (p.His202Leu) n.278A>T | gnomAD v4 |
3 | g.81646446T>C | CA353688116 | GBE1 | c.728A>G (p.His243Arg) c.605A>G (p.His202Arg) n.278A>G | |
3 | g.81646446T>G | CA353688117 | GBE1 | c.728A>C (p.His243Pro) c.605A>C (p.His202Pro) n.278A>C | |
3 | g.81646447G>A | CA353688118 | GBE1 | c.727C>T (p.His243Tyr) c.604C>T (p.His202Tyr) n.277C>T | |
3 | g.81646447G>C | CA353688119 | GBE1 | c.727C>G (p.His243Asp) c.604C>G (p.His202Asp) n.277C>G | |
3 | g.81646447G>T | CA353688120 | GBE1 | c.727C>A (p.His243Asn) c.604C>A (p.His202Asn) n.277C>A | gnomAD v4 |
3 | g.81646448C>A | CA353688122 | GBE1 | c.726G>T (p.Glu242Asp) c.603G>T (p.Glu201Asp) n.276G>T | gnomAD v4 |
3 | g.81646448C>G | CA353688121 | GBE1 | c.726G>C (p.Glu242Asp) c.603G>C (p.Glu201Asp) n.276G>C | |
3 | g.81646448C>T | CA434493971 | GBE1 | c.726G>A (p.Glu242=) c.603G>A (p.Glu201=) n.276G>A | |
3 | g.81646449T>A | CA353688123 | GBE1 | c.725A>T (p.Glu242Val) c.602A>T (p.Glu201Val) n.275A>T | |
3 | g.81646449T>C | CA353688124 | GBE1 | c.725A>G (p.Glu242Gly) c.602A>G (p.Glu201Gly) n.275A>G | gnomAD v4 |
3 | g.81646449T>G | CA353688125 | GBE1 | c.725A>C (p.Glu242Ala) c.602A>C (p.Glu201Ala) n.275A>C | |
3 | g.81646450C>A | CA353688126 | GBE1 | c.724G>T (p.Glu242Ter) c.601G>T (p.Glu201Ter) n.274G>T | |
3 | g.81646450C= | CA1378729114 | GBE1 | c.724G= (p.Glu242=) c.601G= (p.Glu201=) n.274G= | |
3 | g.81646450C>G | CA353688127 | GBE1 | c.724G>C (p.Glu242Gln) c.601G>C (p.Glu201Gln) n.274G>C | gnomAD v4 |
3 | g.81646450C>T | CA353688128 | GBE1 | c.724G>A (p.Glu242Lys) c.601G>A (p.Glu201Lys) n.274G>A | dbSNP gnomAD v4 |
3 | g.81646451C>A | CA353688131 | GBE1 | c.723G>T (p.Met241Ile) c.600G>T (p.Met200Ile) n.273G>T | dbSNP |
3 | g.81646451C= | CA1378729115 | GBE1 | c.723G= (p.Met241=) c.600G= (p.Met200=) n.273G= | |
3 | g.81646451C>G | CA353688129 | GBE1 | c.723G>C (p.Met241Ile) c.600G>C (p.Met200Ile) n.273G>C | |
3 | g.81646451C>T | CA353688130 | GBE1 | c.723G>A (p.Met241Ile) c.600G>A (p.Met200Ile) n.273G>A | gnomAD v4 |
3 | g.81646452A= | CA1378729116 | GBE1 | c.722T= (p.Met241=) c.599T= (p.Met200=) n.272T= | |
3 | g.81646452A>C | CA353688132 | GBE1 | c.722T>G (p.Met241Arg) c.599T>G (p.Met200Arg) n.272T>G | |
3 | g.81646452A>G | CA353688133 | GBE1 | c.722T>C (p.Met241Thr) c.599T>C (p.Met200Thr) n.272T>C | dbSNP gnomAD v2 gnomAD v4 |
3 | g.81646452A>T | CA353688134 | GBE1 | c.722T>A (p.Met241Lys) c.599T>A (p.Met200Lys) n.272T>A | |
3 | g.81646453T>A | CA353688135 | GBE1 | c.721A>T (p.Met241Leu) c.598A>T (p.Met200Leu) n.271A>T | dbSNP gnomAD v3 gnomAD v4 |
3 | g.81646453T>C | CA2499874 | GBE1 | c.721A>G (p.Met241Val) c.598A>G (p.Met200Val) n.271A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.81646453T>G | CA353688136 | GBE1 | c.721A>C (p.Met241Leu) c.598A>C (p.Met200Leu) n.271A>C | |
3 | g.81646453T= | CA1378729117 | GBE1 | c.721A= (p.Met241=) c.598A= (p.Met200=) n.271A= | |
3 | g.81646454G>A | CA434493972 | GBE1 | c.720C>T (p.Ile240=) c.597C>T (p.Ile199=) n.270C>T | ClinVar |
3 | g.81646454G>C | CA353688137 | GBE1 | c.720C>G (p.Ile240Met) c.597C>G (p.Ile199Met) n.270C>G | |
3 | g.81646454G>T | CA434493973 | GBE1 | c.720C>A (p.Ile240=) c.597C>A (p.Ile199=) n.270C>A | |
3 | g.81646454_81646455delinsGA | CA1378729118 | GBE1 | c.719_720delinsTC (p.Ile240=) c.596_597delinsTC (p.Ile199=) n.269_270delinsTC | |
3 | g.81646455del | CA911022032 | GBE1 | c.719del (p.Ile240ThrfsTer?) c.596del (p.Ile199ThrfsTer?) n.269del | dbSNP |
3 | g.81646455A>C | CA353688138 | GBE1 | c.719T>G (p.Ile240Ser) c.596T>G (p.Ile199Ser) n.269T>G | |
3 | g.81646455A>G | CA353688139 | GBE1 | c.719T>C (p.Ile240Thr) c.596T>C (p.Ile199Thr) n.269T>C | |
3 | g.81646455A>T | CA353688140 | GBE1 | c.719T>A (p.Ile240Asn) c.596T>A (p.Ile199Asn) n.269T>A | |
3 | g.81646456T>A | CA353688141 | GBE1 | c.718A>T (p.Ile240Phe) c.595A>T (p.Ile199Phe) n.268A>T | |
3 | g.81646456T>C | CA78292184 | GBE1 | c.718A>G (p.Ile240Val) c.595A>G (p.Ile199Val) n.268A>G | ClinVar dbSNP gnomAD v4 |
3 | g.81646456T>G | CA353688142 | GBE1 | c.718A>C (p.Ile240Leu) c.595A>C (p.Ile199Leu) n.268A>C | dbSNP gnomAD v2 gnomAD v4 |
3 | g.81646456T= | CA1378729119 | GBE1 | c.718A= (p.Ile240=) c.595A= (p.Ile199=) n.268A= | |
3 | g.81646457T>A | CA434493975 | GBE1 | c.717A>T (p.Ala239=) c.594A>T (p.Ala198=) n.267A>T | gnomAD v4 |
3 | g.81646457T>C | CA434493976 | GBE1 | c.717A>G (p.Ala239=) c.594A>G (p.Ala198=) n.267A>G | |
3 | g.81646457T>G | CA434493977 | GBE1 | c.717A>C (p.Ala239=) c.594A>C (p.Ala198=) n.267A>C | |
3 | g.81646458G>A | CA353688143 | GBE1 | c.716C>T (p.Ala239Val) c.593C>T (p.Ala198Val) n.266C>T | gnomAD v4 |
3 | g.81646458G>C | CA353688145 | GBE1 | c.716C>G (p.Ala239Gly) c.593C>G (p.Ala198Gly) n.266C>G | |
3 | g.81646458G>T | CA353688144 | GBE1 | c.716C>A (p.Ala239Glu) c.593C>A (p.Ala198Glu) n.266C>A | |
3 | g.81646459C>A | CA353688146 | GBE1 | c.715G>T (p.Ala239Ser) c.592G>T (p.Ala198Ser) n.265G>T | |
3 | g.81646459C>G | CA353688148 | GBE1 | c.715G>C (p.Ala239Pro) c.592G>C (p.Ala198Pro) n.265G>C | |
3 | g.81646459C>T | CA353688147 | GBE1 | c.715G>A (p.Ala239Thr) c.592G>A (p.Ala198Thr) n.265G>A | gnomAD v4 |
3 | g.81646460C>A | CA353688149 | GBE1 | c.714G>T (p.Met238Ile) c.591G>T (p.Met197Ile) n.264G>T | |
3 | g.81646460C= | CA1378729120 | GBE1 | c.714G= (p.Met238=) c.591G= (p.Met197=) n.264G= | |
3 | g.81646460C>G | CA353688150 | GBE1 | c.714G>C (p.Met238Ile) c.591G>C (p.Met197Ile) n.264G>C | |
3 | g.81646460C>T | CA2499875 | GBE1 | c.714G>A (p.Met238Ile) c.591G>A (p.Met197Ile) n.264G>A | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
3 | g.81646461A= | CA1378729121 | GBE1 | c.713T= (p.Met238=) c.590T= (p.Met197=) n.263T= | |
3 | g.81646461A>C | CA353688151 | GBE1 | c.713T>G (p.Met238Arg) c.590T>G (p.Met197Arg) n.263T>G | dbSNP |
3 | g.81646461A>G | CA353688152 | GBE1 | c.713T>C (p.Met238Thr) c.590T>C (p.Met197Thr) n.263T>C | ClinVar |
3 | g.81646461A>T | CA353688153 | GBE1 | c.713T>A (p.Met238Lys) c.590T>A (p.Met197Lys) n.263T>A | |
3 | g.81646462T>A | CA353688154 | GBE1 | c.712A>T (p.Met238Leu) c.589A>T (p.Met197Leu) n.262A>T | COSMIC COSMIC |
3 | g.81646462T>C | CA353688155 | GBE1 | c.712A>G (p.Met238Val) c.589A>G (p.Met197Val) n.262A>G | gnomAD v4 |
3 | g.81646462T>G | CA353688156 | GBE1 | c.712A>C (p.Met238Leu) c.589A>C (p.Met197Leu) n.262A>C | |
3 | g.81646463C>A | CA353688157 | GBE1 | c.711G>T (p.Leu237Phe) c.588G>T (p.Leu196Phe) n.261G>T | |
3 | g.81646463C>G | CA353688158 | GBE1 | c.711G>C (p.Leu237Phe) c.588G>C (p.Leu196Phe) n.261G>C | |
3 | g.81646463C>T | CA434493978 | GBE1 | c.711G>A (p.Leu237=) c.588G>A (p.Leu196=) n.261G>A | |
3 | g.81646464A>C | CA353688161 | GBE1 | c.710T>G (p.Leu237Trp) c.587T>G (p.Leu196Trp) n.260T>G | |
3 | g.81646464A>G | CA353688160 | GBE1 | c.710T>C (p.Leu237Ser) c.587T>C (p.Leu196Ser) n.260T>C | |
3 | g.81646464A>T | CA353688159 | GBE1 | c.710T>A (p.Leu237Ter) c.587T>A (p.Leu196Ter) n.260T>A | |
3 | g.81646465A= | CA1378729122 | GBE1 | c.709T= (p.Leu237=) c.586T= (p.Leu196=) n.259T= | |
3 | g.81646465A>C | CA353688162 | GBE1 | c.709T>G (p.Leu237Val) c.586T>G (p.Leu196Val) n.259T>G | |
3 | g.81646465A>G | CA10586876 | GBE1 | c.709T>C (p.Leu237=) c.586T>C (p.Leu196=) n.259T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.81646465A>T | CA353688163 | GBE1 | c.709T>A (p.Leu237Met) c.586T>A (p.Leu196Met) n.259T>A | |
3 | g.81646466C>A | CA353688164 | GBE1 | c.708G>T (p.Gln236His) c.585G>T (p.Gln195His) n.258G>T | gnomAD v4 |
3 | g.81646466C= | CA1378729123 | GBE1 | c.708G= (p.Gln236=) c.585G= (p.Gln195=) n.258G= | |
3 | g.81646466C>G | CA115762 | GBE1 | c.708G>C (p.Gln236His) c.585G>C (p.Gln195His) n.258G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.81646466C>T | CA434493979 | GBE1 | c.708G>A (p.Gln236=) c.585G>A (p.Gln195=) n.258G>A | ClinVar |
3 | g.81646467T>A | CA353688165 | GBE1 | c.707A>T (p.Gln236Leu) c.584A>T (p.Gln195Leu) n.257A>T | |
3 | g.81646467T>C | CA353688166 | GBE1 | c.707A>G (p.Gln236Arg) c.584A>G (p.Gln195Arg) n.257A>G | dbSNP gnomAD v3 gnomAD v4 |
3 | g.81646467T>G | CA353688167 | GBE1 | c.707A>C (p.Gln236Pro) c.584A>C (p.Gln195Pro) n.257A>C | |
3 | g.81646467T= | CA1378729124 | GBE1 | c.707A= (p.Gln236=) c.584A= (p.Gln195=) n.257A= | |
3 | g.81646468G>A | CA2499876 | GBE1 | c.706C>T (p.Gln236Ter) c.583C>T (p.Gln195Ter) n.256C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.81646468G>C | CA353688168 | GBE1 | c.706C>G (p.Gln236Glu) c.583C>G (p.Gln195Glu) n.256C>G | |
3 | g.81646468G= | CA1378729125 | GBE1 | c.706C= (p.Gln236=) c.583C= (p.Gln195=) n.256C= | |
3 | g.81646468G>T | CA353688169 | GBE1 | c.706C>A (p.Gln236Lys) c.583C>A (p.Gln195Lys) n.256C>A | gnomAD v4 |
3 | g.81646469A>C | CA353688170 | GBE1 | c.705T>G (p.Ile235Met) c.582T>G (p.Ile194Met) n.255T>G | gnomAD v4 |
3 | g.81646469A>G | CA434493980 | GBE1 | c.705T>C (p.Ile235=) c.582T>C (p.Ile194=) n.255T>C | |
3 | g.81646469A>T | CA434493981 | GBE1 | c.705T>A (p.Ile235=) c.582T>A (p.Ile194=) n.255T>A | |
3 | g.81646470A>C | CA353688173 | GBE1 | c.704T>G (p.Ile235Ser) c.581T>G (p.Ile194Ser) n.254T>G | |
3 | g.81646470A>G | CA353688172 | GBE1 | c.704T>C (p.Ile235Thr) c.581T>C (p.Ile194Thr) n.254T>C | |
3 | g.81646470A>T | CA353688171 | GBE1 | c.704T>A (p.Ile235Asn) c.581T>A (p.Ile194Asn) n.254T>A | |
3 | g.81646471T>A | CA353688174 | GBE1 | c.703A>T (p.Ile235Phe) c.580A>T (p.Ile194Phe) n.253A>T | |
3 | g.81646471T>C | CA353688175 | GBE1 | c.703A>G (p.Ile235Val) c.580A>G (p.Ile194Val) n.253A>G | dbSNP |
3 | g.81646471T>G | CA353688176 | GBE1 | c.703A>C (p.Ile235Leu) c.580A>C (p.Ile194Leu) n.253A>C | |
3 | g.81646471T= | CA1378729126 | GBE1 | c.703A= (p.Ile235=) c.580A= (p.Ile194=) n.253A= | |
3 | g.81646472G>A | CA434493983 | GBE1 | c.702C>T (p.Cys234=) c.579C>T (p.Cys193=) n.252C>T | gnomAD v4 |
3 | g.81646472G>C | CA353688177 | GBE1 | c.702C>G (p.Cys234Trp) c.579C>G (p.Cys193Trp) n.252C>G | |
3 | g.81646472G>T | CA353688178 | GBE1 | c.702C>A (p.Cys234Ter) c.579C>A (p.Cys193Ter) n.252C>A | gnomAD v4 |
3 | g.81646473C>A | CA353688179 | GBE1 | c.701G>T (p.Cys234Phe) c.578G>T (p.Cys193Phe) n.251G>T | |
3 | g.81646473C= | CA1378729127 | GBE1 | c.701G= (p.Cys234=) c.578G= (p.Cys193=) n.251G= | |
3 | g.81646473C>G | CA353688180 | GBE1 | c.701G>C (p.Cys234Ser) c.578G>C (p.Cys193Ser) n.251G>C | |
3 | g.81646473C>T | CA2499877 | GBE1 | c.701G>A (p.Cys234Tyr) c.578G>A (p.Cys193Tyr) n.251G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.81646474A>C | CA353688181 | GBE1 | c.700T>G (p.Cys234Gly) c.577T>G (p.Cys193Gly) n.250T>G | |
3 | g.81646474A>G | CA353688182 | GBE1 | c.700T>C (p.Cys234Arg) c.577T>C (p.Cys193Arg) n.250T>C | gnomAD v4 |
3 | g.81646474A>T | CA353688183 | GBE1 | c.700T>A (p.Cys234Ser) c.577T>A (p.Cys193Ser) n.250T>A | |
3 | g.81646475G>A | CA434493984 | GBE1 | c.699C>T (p.Asn233=) c.576C>T (p.Asn192=) n.249C>T | gnomAD v4 |
3 | g.81646475G>C | CA353688184 | GBE1 | c.699C>G (p.Asn233Lys) c.576C>G (p.Asn192Lys) n.249C>G | |
3 | g.81646475G>T | CA353688185 | GBE1 | c.699C>A (p.Asn233Lys) c.576C>A (p.Asn192Lys) n.249C>A | gnomAD v4 |
3 | g.81646476_81646492del | CA2666623890 | GBE1 | c.692-9_699del c.569-9_576del n.233_249del | gnomAD v4 |
3 | g.81646476T>A | CA353688187 | GBE1 | c.698A>T (p.Asn233Ile) c.575A>T (p.Asn192Ile) n.248A>T | |
3 | g.81646476T>C | CA78292185 | GBE1 | c.698A>G (p.Asn233Ser) c.575A>G (p.Asn192Ser) n.248A>G | dbSNP gnomAD v2 gnomAD v4 |
3 | g.81646476T>G | CA353688186 | GBE1 | c.698A>C (p.Asn233Thr) c.575A>C (p.Asn192Thr) n.248A>C | gnomAD v4 |
3 | g.81646476T= | CA1378729128 | GBE1 | c.698A= (p.Asn233=) c.575A= (p.Asn192=) n.248A= | |
3 | g.81646477T>A | CA353688188 | GBE1 | c.697A>T (p.Asn233Tyr) c.574A>T (p.Asn192Tyr) n.247A>T | |
3 | g.81646477T>C | CA353688189 | GBE1 | c.697A>G (p.Asn233Asp) c.574A>G (p.Asn192Asp) n.247A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.81646477T>G | CA353688190 | GBE1 | c.697A>C (p.Asn233His) c.574A>C (p.Asn192His) n.247A>C | |
3 | g.81646477T= | CA1378729129 | GBE1 | c.697A= (p.Asn233=) c.574A= (p.Asn192=) n.247A= | |
3 | g.81646478G>A | CA2499878 | GBE1 | c.696C>T (p.Tyr232=) c.573C>T (p.Tyr191=) n.246C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.81646478G>C | CA353688191 | GBE1 | c.696C>G (p.Tyr232Ter) c.573C>G (p.Tyr191Ter) n.246C>G | |
3 | g.81646478G= | CA1378729130 | GBE1 | c.696C= (p.Tyr232=) c.573C= (p.Tyr191=) n.246C= | |
3 | g.81646478G>T | CA353688192 | GBE1 | c.696C>A (p.Tyr232Ter) c.573C>A (p.Tyr191Ter) n.246C>A | dbSNP gnomAD v4 |
3 | g.81646479del | CA2666623891 | GBE1 | c.695del (p.Tyr232SerfsTer6) c.572del (p.Tyr191SerfsTer6) n.245del | gnomAD v4 |
3 | g.81646479T>A | CA353688193 | GBE1 | c.695A>T (p.Tyr232Phe) c.572A>T (p.Tyr191Phe) n.245A>T | |
3 | g.81646479T>C | CA353688194 | GBE1 | c.695A>G (p.Tyr232Cys) c.572A>G (p.Tyr191Cys) n.245A>G | gnomAD v4 |
3 | g.81646479T>G | CA353688195 | GBE1 | c.695A>C (p.Tyr232Ser) c.572A>C (p.Tyr191Ser) n.245A>C | |
3 | g.81646480A>C | CA353688196 | GBE1 | c.694T>G (p.Tyr232Asp) c.571T>G (p.Tyr191Asp) n.244T>G | |
3 | g.81646480A>G | CA353688197 | GBE1 | c.694T>C (p.Tyr232His) c.571T>C (p.Tyr191His) n.244T>C | |
3 | g.81646480A>T | CA353688198 | GBE1 | c.694T>A (p.Tyr232Asn) c.571T>A (p.Tyr191Asn) n.244T>A | |
3 | g.81646481T>A | CA434493987 | GBE1 | c.693A>T (p.Gly231=) c.570A>T (p.Gly190=) n.243A>T | dbSNP gnomAD v3 gnomAD v4 |
3 | g.81646481T>C | CA434493988 | GBE1 | c.693A>G (p.Gly231=) c.570A>G (p.Gly190=) n.243A>G | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
3 | g.81646481T>G | CA434493986 | GBE1 | c.693A>C (p.Gly231=) c.570A>C (p.Gly190=) n.243A>C | dbSNP gnomAD v2 gnomAD v4 |
3 | g.81646481T= | CA1378729131 | GBE1 | c.693A= (p.Gly231=) c.570A= (p.Gly190=) n.243A= | |
3 | g.81646482C>A | CA353688199 | GBE1 | c.692G>T (p.Gly231Val) c.569G>T (p.Gly190Val) n.242G>T | gnomAD v4 |
3 | g.81646482C= | CA1378729132 | GBE1 | c.692G= (p.Gly231=) c.569G= (p.Gly190=) n.242G= | |
3 | g.81646482C>G | CA353688201 | GBE1 | c.692G>C (p.Gly231Ala) c.569G>C (p.Gly190Ala) n.242G>C | |
3 | g.81646482C>T | CA353688200 | GBE1 | c.692G>A (p.Gly231Glu) c.569G>A (p.Gly190Glu) n.242G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.81646483C>A | CA353688202 | GBE1 | c.692-1G>T (n.692-1G>T) c.569-1G>T (n.569-1G>T) n.241G>T | gnomAD v4 |
3 | g.81646483C>G | CA353688204 | GBE1 | c.692-1G>C (n.692-1G>C) c.569-1G>C (n.569-1G>C) n.241G>C | |
3 | g.81646483C>T | CA353688203 | GBE1 | c.692-1G>A (n.692-1G>A) c.569-1G>A (n.569-1G>A) n.241G>A | ClinVar |
3 | g.81646484T>A | CA353688205 | GBE1 | c.692-2A>T (n.692-2A>T) c.569-2A>T (n.569-2A>T) n.240A>T | |
3 | g.81646484T>C | CA353688207 | GBE1 | c.692-2A>G (n.692-2A>G) c.569-2A>G (n.569-2A>G) n.240A>G | gnomAD v4 |
3 | g.81646484T>G | CA353688206 | GBE1 | c.692-2A>C (n.692-2A>C) c.569-2A>C (n.569-2A>C) n.240A>C | |
3 | g.81646486T>C | CA2666623892 | GBE1 | c.692-4A>G (n.692-4A>G) c.569-4A>G (n.569-4A>G) n.238A>G | gnomAD v4 |
3 | g.81646487A>G | CA2577825872 | GBE1 | c.692-5T>C (n.692-5T>C) c.569-5T>C (n.569-5T>C) n.237T>C | |
3 | g.81646488T>C | CA2499879 | GBE1 | c.692-6A>G (n.692-6A>G) c.569-6A>G (n.569-6A>G) n.236A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.81646488T= | CA1378729133 | GBE1 | c.692-6A= (n.692-6A=) c.569-6A= (n.569-6A=) n.236A= | |
3 | g.81646489A= | CA1378729134 | GBE1 | c.692-7T= (n.692-7T=) c.569-7T= (n.569-7T=) n.235T= | |
3 | g.81646489A>G | CA544277804 | GBE1 | c.692-7T>C (n.692-7T>C) c.569-7T>C (n.569-7T>C) n.235T>C | dbSNP gnomAD v2 gnomAD v4 |
3 | g.81646490del | CA2577825873 | GBE1 | c.692-7del (n.692-7del) c.569-7del (n.569-7del) n.235del | gnomAD v4 |
3 | g.81646490A>G | CA2666623893 | GBE1 | c.692-8T>C (n.692-8T>C) c.569-8T>C (n.569-8T>C) n.234T>C | gnomAD v4 |
3 | g.81646490A>T | CA2666623894 | GBE1 | c.692-8T>A (n.692-8T>A) c.569-8T>A (n.569-8T>A) n.234T>A | gnomAD v4 |
3 | g.81646491G>A | CA2666623895 | GBE1 | c.692-9C>T (n.692-9C>T) c.569-9C>T (n.569-9C>T) n.233C>T | gnomAD v4 |
3 | g.81646491G>T | CA2666623896 | GBE1 | c.692-9C>A (n.692-9C>A) c.569-9C>A (n.569-9C>A) n.233C>A | gnomAD v4 |
3 | g.81646492dup | CA2740094510 | GBE1 | c.692-9dup (n.692-9dup) c.569-9dup (n.569-9dup) n.233dup | ClinVar |
3 | g.81646492G>A | CA2666623897 | GBE1 | c.692-10C>T (n.692-10C>T) c.569-10C>T (n.569-10C>T) n.232C>T | gnomAD v4 |
3 | g.81646492G>C | CA2573137462 | GBE1 | c.692-10C>G (n.692-10C>G) c.569-10C>G (n.569-10C>G) n.232C>G | ClinVar dbSNP gnomAD v4 |
3 | g.81646492G>T | CA2666623898 | GBE1 | c.692-10C>A (n.692-10C>A) c.569-10C>A (n.569-10C>A) n.232C>A | gnomAD v4 |
3 | g.81646493C>T | CA2577825874 | GBE1 | c.692-11G>A (n.692-11G>A) c.569-11G>A (n.569-11G>A) n.231G>A | gnomAD v4 |
3 | g.81646494A>G | CA2666623900 | GBE1 | c.692-12T>C (n.692-12T>C) c.569-12T>C (n.569-12T>C) n.230T>C | gnomAD v4 |
3 | g.81646494A>T | CA2666623899 | GBE1 | c.692-12T>A (n.692-12T>A) c.569-12T>A (n.569-12T>A) n.230T>A | gnomAD v4 |
3 | g.81646496T>A | CA2577825875 | GBE1 | c.692-14A>T (n.692-14A>T) c.569-14A>T (n.569-14A>T) n.228A>T | |
3 | g.81646496T>C | CA2666623901 | GBE1 | c.692-14A>G (n.692-14A>G) c.569-14A>G (n.569-14A>G) n.228A>G | gnomAD v4 |
3 | g.81646496_81646497delinsTG | CA1378729135 | GBE1 | c.692-15_692-14delinsCA (n.692-15_692-14delinsCA) c.569-15_569-14delinsCA (n.569-15_569-14delinsCA) n.227_228delinsCA | |
3 | g.81646497G>A | CA2666623902 | GBE1 | c.692-15C>T (n.692-15C>T) c.569-15C>T (n.569-15C>T) n.227C>T | gnomAD v4 |
3 | g.81646497G>T | CA2666623903 | GBE1 | c.692-15C>A (n.692-15C>A) c.569-15C>A (n.569-15C>A) n.227C>A | gnomAD v4 |
3 | g.81646498del | CA1050115978 | GBE1 | c.692-15del (n.692-15del) c.569-15del (n.569-15del) n.227del | dbSNP gnomAD v3 gnomAD v4 |
3 | g.81646498G>A | CA2666623904 | GBE1 | c.692-16C>T (n.692-16C>T) c.569-16C>T (n.569-16C>T) n.226C>T | gnomAD v4 |
3 | g.81646498G>T | CA2577825876 | GBE1 | c.692-16C>A (n.692-16C>A) c.569-16C>A (n.569-16C>A) n.226C>A | gnomAD v4 |
3 | g.81646499T>C | CA544277808 | GBE1 | c.692-17A>G (n.692-17A>G) c.569-17A>G (n.569-17A>G) n.225A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.81646499T= | CA1378729136 | GBE1 | c.692-17A= (n.692-17A=) c.569-17A= (n.569-17A=) n.225A= | |
3 | g.81646500C>A | CA2666623905 | GBE1 | c.692-18G>T (n.692-18G>T) c.569-18G>T (n.569-18G>T) n.224G>T | gnomAD v4 |
3 | g.81646500C>T | CA2666623906 | GBE1 | c.692-18G>A (n.692-18G>A) c.569-18G>A (n.569-18G>A) n.224G>A | gnomAD v4 |
3 | g.81646501A>C | CA2666623907 | GBE1 | c.692-19T>G (n.692-19T>G) c.569-19T>G (n.569-19T>G) n.223T>G | gnomAD v4 |
3 | g.81646502A= | CA1378729137 | GBE1 | c.692-20T= (n.692-20T=) c.569-20T= (n.569-20T=) n.222T= | |
3 | g.81646502A>C | CA1378729138 | GBE1 | c.692-20T>G (n.692-20T>G) c.569-20T>G (n.569-20T>G) n.222T>G | dbSNP |
3 | g.81646502A>G | CA2666623908 | GBE1 | c.692-20T>C (n.692-20T>C) c.569-20T>C (n.569-20T>C) n.222T>C | gnomAD v4 |
3 | g.81646502A>T | CA2666623909 | GBE1 | c.692-20T>A (n.692-20T>A) c.569-20T>A (n.569-20T>A) n.222T>A | gnomAD v4 |
3 | g.81646504T>C | CA2666623911 | GBE1 | c.692-22A>G (n.692-22A>G) c.569-22A>G (n.569-22A>G) n.220A>G | gnomAD v4 |
3 | g.81646505_81646506insCTGTC | CA2666623910 | GBE1 | c.692-22_692-21insCAGGA (n.692-22_692-21insCAGGA) c.569-22_569-21insCAGGA (n.569-22_569-21insCAGGA) n.220_221insCAGGA | gnomAD v4 |