UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.161330903T>A | CA131019989 | GABRB2 | c.1057A>T (p.Met353Leu) n.1139A>T c.*516A>T (n.*516A>T) c.805A>T (p.Met269Leu) c.307A>T (p.Met103Leu) c.577A>T (p.Met193Leu) c.868A>T (p.Met290Leu) | ClinVar dbSNP gnomAD v4 |
| 5 | g.161330903T>C | CA362174970 | GABRB2 | c.1057A>G (p.Met353Val) n.1139A>G c.*516A>G (n.*516A>G) c.805A>G (p.Met269Val) c.307A>G (p.Met103Val) c.577A>G (p.Met193Val) c.868A>G (p.Met290Val) | |
| 5 | g.161330903T>G | CA362174971 | GABRB2 | c.1057A>C (p.Met353Leu) n.1139A>C c.*516A>C (n.*516A>C) c.805A>C (p.Met269Leu) c.307A>C (p.Met103Leu) c.577A>C (p.Met193Leu) c.868A>C (p.Met290Leu) | |
| 5 | g.161330903T= | CA1595983817 | GABRB2 | c.1057A= (p.Met353=) n.1139A= c.*516A= (n.*516A=) c.805A= (p.Met269=) c.307A= (p.Met103=) c.577A= (p.Met193=) c.868A= (p.Met290=) | |
| 5 | g.161330904C>A | CA362174972 | GABRB2 | c.1056G>T (p.Lys352Asn) n.1138G>T c.*515G>T (n.*515G>T) c.804G>T (p.Lys268Asn) c.306G>T (p.Lys102Asn) c.576G>T (p.Lys192Asn) c.867G>T (p.Lys289Asn) | COSMIC COSMIC |
| 5 | g.161330904C>G | CA362174973 | GABRB2 | c.1056G>C (p.Lys352Asn) n.1138G>C c.*515G>C (n.*515G>C) c.804G>C (p.Lys268Asn) c.306G>C (p.Lys102Asn) c.576G>C (p.Lys192Asn) c.867G>C (p.Lys289Asn) | |
| 5 | g.161330904C>T | CA447691178 | GABRB2 | c.1056G>A (p.Lys352=) n.1138G>A c.*515G>A (n.*515G>A) c.804G>A (p.Lys268=) c.306G>A (p.Lys102=) c.576G>A (p.Lys192=) c.867G>A (p.Lys289=) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 5 | g.161330905T>A | CA362174974 | GABRB2 | c.1055A>T (p.Lys352Met) n.1137A>T c.*514A>T (n.*514A>T) c.803A>T (p.Lys268Met) c.305A>T (p.Lys102Met) c.575A>T (p.Lys192Met) c.866A>T (p.Lys289Met) | |
| 5 | g.161330905T>C | CA362174975 | GABRB2 | c.1055A>G (p.Lys352Arg) n.1137A>G c.*514A>G (n.*514A>G) c.803A>G (p.Lys268Arg) c.305A>G (p.Lys102Arg) c.575A>G (p.Lys192Arg) c.866A>G (p.Lys289Arg) | |
| 5 | g.161330905T>G | CA3543438 | GABRB2 | c.1055A>C (p.Lys352Thr) n.1137A>C c.*514A>C (n.*514A>C) c.803A>C (p.Lys268Thr) c.305A>C (p.Lys102Thr) c.575A>C (p.Lys192Thr) c.866A>C (p.Lys289Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.161330905T= | CA1595983818 | GABRB2 | c.1055A= (p.Lys352=) n.1137A= c.*514A= (n.*514A=) c.803A= (p.Lys268=) c.305A= (p.Lys102=) c.575A= (p.Lys192=) c.866A= (p.Lys289=) | |
| 5 | g.161330906T>A | CA362174976 | GABRB2 | c.1054A>T (p.Lys352Ter) n.1136A>T c.*513A>T (n.*513A>T) c.802A>T (p.Lys268Ter) c.304A>T (p.Lys102Ter) c.574A>T (p.Lys192Ter) c.865A>T (p.Lys289Ter) | |
| 5 | g.161330906T>C | CA362174977 | GABRB2 | c.1054A>G (p.Lys352Glu) n.1136A>G c.*513A>G (n.*513A>G) c.802A>G (p.Lys268Glu) c.304A>G (p.Lys102Glu) c.574A>G (p.Lys192Glu) c.865A>G (p.Lys289Glu) | gnomAD v4 |
| 5 | g.161330906T>G | CA362174978 | GABRB2 | c.1054A>C (p.Lys352Gln) n.1136A>C c.*513A>C (n.*513A>C) c.802A>C (p.Lys268Gln) c.304A>C (p.Lys102Gln) c.574A>C (p.Lys192Gln) c.865A>C (p.Lys289Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.161330906T= | CA1595983819 | GABRB2 | c.1054A= (p.Lys352=) n.1136A= c.*513A= (n.*513A=) c.802A= (p.Lys268=) c.304A= (p.Lys102=) c.574A= (p.Lys192=) c.865A= (p.Lys289=) | |
| 5 | g.161330907C>A | CA362174979 | GABRB2 | c.1053G>T (p.Glu351Asp) n.1135G>T c.*512G>T (n.*512G>T) c.801G>T (p.Glu267Asp) c.303G>T (p.Glu101Asp) c.573G>T (p.Glu191Asp) c.864G>T (p.Glu288Asp) | |
| 5 | g.161330907C>G | CA362174980 | GABRB2 | c.1053G>C (p.Glu351Asp) n.1135G>C c.*512G>C (n.*512G>C) c.801G>C (p.Glu267Asp) c.303G>C (p.Glu101Asp) c.573G>C (p.Glu191Asp) c.864G>C (p.Glu288Asp) | COSMIC COSMIC |
| 5 | g.161330907C>T | CA447691182 | GABRB2 | c.1053G>A (p.Glu351=) n.1135G>A c.*512G>A (n.*512G>A) c.801G>A (p.Glu267=) c.303G>A (p.Glu101=) c.573G>A (p.Glu191=) c.864G>A (p.Glu288=) | gnomAD v4 |
| 5 | g.161330907_161330909del | CA2676314815 | GABRB2 | c.1051_1053del (p.Glu351del) n.1133_1135del c.*510_*512del (n.*510_*512del) c.799_801del (p.Glu267del) c.301_303del (p.Glu101del) c.571_573del (p.Glu191del) c.862_864del (p.Glu288del) | gnomAD v4 |
| 5 | g.161330908T>A | CA362174981 | GABRB2 | c.1052A>T (p.Glu351Val) n.1134A>T c.*511A>T (n.*511A>T) c.800A>T (p.Glu267Val) c.302A>T (p.Glu101Val) c.572A>T (p.Glu191Val) c.863A>T (p.Glu288Val) | |
| 5 | g.161330908T>C | CA131019990 | GABRB2 | c.1052A>G (p.Glu351Gly) n.1134A>G c.*511A>G (n.*511A>G) c.800A>G (p.Glu267Gly) c.302A>G (p.Glu101Gly) c.572A>G (p.Glu191Gly) c.863A>G (p.Glu288Gly) | dbSNP |
| 5 | g.161330908T>G | CA362174983 | GABRB2 | c.1052A>C (p.Glu351Ala) n.1134A>C c.*511A>C (n.*511A>C) c.800A>C (p.Glu267Ala) c.302A>C (p.Glu101Ala) c.572A>C (p.Glu191Ala) c.863A>C (p.Glu288Ala) | |
| 5 | g.161330908T= | CA1595983820 | GABRB2 | c.1052A= (p.Glu351=) n.1134A= c.*511A= (n.*511A=) c.800A= (p.Glu267=) c.302A= (p.Glu101=) c.572A= (p.Glu191=) c.863A= (p.Glu288=) | |
| 5 | g.161330909C>A | CA362174985 | GABRB2 | c.1051G>T (p.Glu351Ter) n.1133G>T c.*510G>T (n.*510G>T) c.799G>T (p.Glu267Ter) c.301G>T (p.Glu101Ter) c.571G>T (p.Glu191Ter) c.862G>T (p.Glu288Ter) | |
| 5 | g.161330909C= | CA1595983821 | GABRB2 | c.1051G= (p.Glu351=) n.1133G= c.*510G= (n.*510G=) c.799G= (p.Glu267=) c.301G= (p.Glu101=) c.571G= (p.Glu191=) c.862G= (p.Glu288=) | |
| 5 | g.161330909C>G | CA362174987 | GABRB2 | c.1051G>C (p.Glu351Gln) n.1133G>C c.*510G>C (n.*510G>C) c.799G>C (p.Glu267Gln) c.301G>C (p.Glu101Gln) c.571G>C (p.Glu191Gln) c.862G>C (p.Glu288Gln) | |
| 5 | g.161330909C>T | CA131019991 | GABRB2 | c.1051G>A (p.Glu351Lys) n.1133G>A c.*510G>A (n.*510G>A) c.799G>A (p.Glu267Lys) c.301G>A (p.Glu101Lys) c.571G>A (p.Glu191Lys) c.862G>A (p.Glu288Lys) | dbSNP gnomAD v4 COSMIC COSMIC |
| 5 | g.161330910A>C | CA362174989 | GABRB2 | c.1050T>G (p.Asn350Lys) n.1132T>G c.*509T>G (n.*509T>G) c.798T>G (p.Asn266Lys) c.300T>G (p.Asn100Lys) c.570T>G (p.Asn190Lys) c.861T>G (p.Asn287Lys) | |
| 5 | g.161330910A>G | CA447691183 | GABRB2 | c.1050T>C (p.Asn350=) n.1132T>C c.*509T>C (n.*509T>C) c.798T>C (p.Asn266=) c.300T>C (p.Asn100=) c.570T>C (p.Asn190=) c.861T>C (p.Asn287=) | gnomAD v4 |
| 5 | g.161330910A>T | CA362174991 | GABRB2 | c.1050T>A (p.Asn350Lys) n.1132T>A c.*509T>A (n.*509T>A) c.798T>A (p.Asn266Lys) c.300T>A (p.Asn100Lys) c.570T>A (p.Asn190Lys) c.861T>A (p.Asn287Lys) | |
| 5 | g.161330910_161330912del | CA2695205634 | GABRB2 | c.1048_1050del (p.Asn350del) n.1130_1132del c.*507_*509del (n.*507_*509del) c.796_798del (p.Asn266del) c.298_300del (p.Asn100del) c.568_570del (p.Asn190del) c.859_861del (p.Asn287del) | |
| 5 | g.161330911T>A | CA362174993 | GABRB2 | c.1049A>T (p.Asn350Ile) n.1131A>T c.*508A>T (n.*508A>T) c.797A>T (p.Asn266Ile) c.299A>T (p.Asn100Ile) c.569A>T (p.Asn190Ile) c.860A>T (p.Asn287Ile) | |
| 5 | g.161330911T>C | CA3543439 | GABRB2 | c.1049A>G (p.Asn350Ser) n.1131A>G c.*508A>G (n.*508A>G) c.797A>G (p.Asn266Ser) c.299A>G (p.Asn100Ser) c.569A>G (p.Asn190Ser) c.860A>G (p.Asn287Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.161330911T>G | CA362174996 | GABRB2 | c.1049A>C (p.Asn350Thr) n.1131A>C c.*508A>C (n.*508A>C) c.797A>C (p.Asn266Thr) c.299A>C (p.Asn100Thr) c.569A>C (p.Asn190Thr) c.860A>C (p.Asn287Thr) | |
| 5 | g.161330911T= | CA1595983822 | GABRB2 | c.1049A= (p.Asn350=) n.1131A= c.*508A= (n.*508A=) c.797A= (p.Asn266=) c.299A= (p.Asn100=) c.569A= (p.Asn190=) c.860A= (p.Asn287=) | |
| 5 | g.161330912T>A | CA362174998 | GABRB2 | c.1048A>T (p.Asn350Tyr) n.1130A>T c.*507A>T (n.*507A>T) c.796A>T (p.Asn266Tyr) c.298A>T (p.Asn100Tyr) c.568A>T (p.Asn190Tyr) c.859A>T (p.Asn287Tyr) | |
| 5 | g.161330912T>C | CA362174999 | GABRB2 | c.1048A>G (p.Asn350Asp) n.1130A>G c.*507A>G (n.*507A>G) c.796A>G (p.Asn266Asp) c.298A>G (p.Asn100Asp) c.568A>G (p.Asn190Asp) c.859A>G (p.Asn287Asp) | gnomAD v4 |
| 5 | g.161330912T>G | CA362175001 | GABRB2 | c.1048A>C (p.Asn350His) n.1130A>C c.*507A>C (n.*507A>C) c.796A>C (p.Asn266His) c.298A>C (p.Asn100His) c.568A>C (p.Asn190His) c.859A>C (p.Asn287His) | |
| 5 | g.161330913G>A | CA447691208 | GABRB2 | c.1047C>T (p.Asn349=) n.1129C>T c.*506C>T (n.*506C>T) c.795C>T (p.Asn265=) c.297C>T (p.Asn99=) c.567C>T (p.Asn189=) c.858C>T (p.Asn286=) | |
| 5 | g.161330913G>C | CA362175003 | GABRB2 | c.1047C>G (p.Asn349Lys) n.1129C>G c.*506C>G (n.*506C>G) c.795C>G (p.Asn265Lys) c.297C>G (p.Asn99Lys) c.567C>G (p.Asn189Lys) c.858C>G (p.Asn286Lys) | dbSNP gnomAD v4 |
| 5 | g.161330913G= | CA1595983823 | GABRB2 | c.1047C= (p.Asn349=) n.1129C= c.*506C= (n.*506C=) c.795C= (p.Asn265=) c.297C= (p.Asn99=) c.567C= (p.Asn189=) c.858C= (p.Asn286=) | |
| 5 | g.161330913G>T | CA362175005 | GABRB2 | c.1047C>A (p.Asn349Lys) n.1129C>A c.*506C>A (n.*506C>A) c.795C>A (p.Asn265Lys) c.297C>A (p.Asn99Lys) c.567C>A (p.Asn189Lys) c.858C>A (p.Asn286Lys) | |
| 5 | g.161330914T>A | CA362175006 | GABRB2 | c.1046A>T (p.Asn349Ile) n.1128A>T c.*505A>T (n.*505A>T) c.794A>T (p.Asn265Ile) c.296A>T (p.Asn99Ile) c.566A>T (p.Asn189Ile) c.857A>T (p.Asn286Ile) | |
| 5 | g.161330914T>C | CA3543440 | GABRB2 | c.1046A>G (p.Asn349Ser) n.1128A>G c.*505A>G (n.*505A>G) c.794A>G (p.Asn265Ser) c.296A>G (p.Asn99Ser) c.566A>G (p.Asn189Ser) c.857A>G (p.Asn286Ser) | dbSNP ExAC gnomAD v2 COSMIC COSMIC |
| 5 | g.161330914T>G | CA362175009 | GABRB2 | c.1046A>C (p.Asn349Thr) n.1128A>C c.*505A>C (n.*505A>C) c.794A>C (p.Asn265Thr) c.296A>C (p.Asn99Thr) c.566A>C (p.Asn189Thr) c.857A>C (p.Asn286Thr) | |
| 5 | g.161330914T= | CA1595983824 | GABRB2 | c.1046A= (p.Asn349=) n.1128A= c.*505A= (n.*505A=) c.794A= (p.Asn265=) c.296A= (p.Asn99=) c.566A= (p.Asn189=) c.857A= (p.Asn286=) | |
| 5 | g.161330915T>A | CA362175011 | GABRB2 | c.1045A>T (p.Asn349Tyr) n.1127A>T c.*504A>T (n.*504A>T) c.793A>T (p.Asn265Tyr) c.295A>T (p.Asn99Tyr) c.565A>T (p.Asn189Tyr) c.856A>T (p.Asn286Tyr) | |
| 5 | g.161330915T>C | CA362175012 | GABRB2 | c.1045A>G (p.Asn349Asp) n.1127A>G c.*504A>G (n.*504A>G) c.793A>G (p.Asn265Asp) c.295A>G (p.Asn99Asp) c.565A>G (p.Asn189Asp) c.856A>G (p.Asn286Asp) | |
| 5 | g.161330915T>G | CA362175014 | GABRB2 | c.1045A>C (p.Asn349His) n.1127A>C c.*504A>C (n.*504A>C) c.793A>C (p.Asn265His) c.295A>C (p.Asn99His) c.565A>C (p.Asn189His) c.856A>C (p.Asn286His) | |
| 5 | g.161330916G>A | CA447691209 | GABRB2 | c.1044C>T (p.Ala348=) n.1126C>T c.*503C>T (n.*503C>T) c.792C>T (p.Ala264=) c.294C>T (p.Ala98=) c.564C>T (p.Ala188=) c.855C>T (p.Ala285=) | |
| 5 | g.161330916G>C | CA447691210 | GABRB2 | c.1044C>G (p.Ala348=) n.1126C>G c.*503C>G (n.*503C>G) c.792C>G (p.Ala264=) c.294C>G (p.Ala98=) c.564C>G (p.Ala188=) c.855C>G (p.Ala285=) | |
| 5 | g.161330916G= | CA1595983825 | GABRB2 | c.1044C= (p.Ala348=) n.1126C= c.*503C= (n.*503C=) c.792C= (p.Ala264=) c.294C= (p.Ala98=) c.564C= (p.Ala188=) c.855C= (p.Ala285=) | |
| 5 | g.161330916G>T | CA447691211 | GABRB2 | c.1044C>A (p.Ala348=) n.1126C>A c.*503C>A (n.*503C>A) c.792C>A (p.Ala264=) c.294C>A (p.Ala98=) c.564C>A (p.Ala188=) c.855C>A (p.Ala285=) | dbSNP |
| 5 | g.161330917G>A | CA362175016 | GABRB2 | c.1043C>T (p.Ala348Val) n.1125C>T c.*502C>T (n.*502C>T) c.791C>T (p.Ala264Val) c.293C>T (p.Ala98Val) c.563C>T (p.Ala188Val) c.854C>T (p.Ala285Val) | |
| 5 | g.161330917G>C | CA362175018 | GABRB2 | c.1043C>G (p.Ala348Gly) n.1125C>G c.*502C>G (n.*502C>G) c.791C>G (p.Ala264Gly) c.293C>G (p.Ala98Gly) c.563C>G (p.Ala188Gly) c.854C>G (p.Ala285Gly) | |
| 5 | g.161330917G= | CA1595983826 | GABRB2 | c.1043C= (p.Ala348=) n.1125C= c.*502C= (n.*502C=) c.791C= (p.Ala264=) c.293C= (p.Ala98=) c.563C= (p.Ala188=) c.854C= (p.Ala285=) | |
| 5 | g.161330917G>T | CA3543441 | GABRB2 | c.1043C>A (p.Ala348Asp) n.1125C>A c.*502C>A (n.*502C>A) c.791C>A (p.Ala264Asp) c.293C>A (p.Ala98Asp) c.563C>A (p.Ala188Asp) c.854C>A (p.Ala285Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.161330918C>A | CA362175021 | GABRB2 | c.1042G>T (p.Ala348Ser) n.1124G>T c.*501G>T (n.*501G>T) c.790G>T (p.Ala264Ser) c.292G>T (p.Ala98Ser) c.562G>T (p.Ala188Ser) c.853G>T (p.Ala285Ser) | |
| 5 | g.161330918C= | CA1595983827 | GABRB2 | c.1042G= (p.Ala348=) n.1124G= c.*501G= (n.*501G=) c.790G= (p.Ala264=) c.292G= (p.Ala98=) c.562G= (p.Ala188=) c.853G= (p.Ala285=) | |
| 5 | g.161330918C>G | CA362175023 | GABRB2 | c.1042G>C (p.Ala348Pro) n.1124G>C c.*501G>C (n.*501G>C) c.790G>C (p.Ala264Pro) c.292G>C (p.Ala98Pro) c.562G>C (p.Ala188Pro) c.853G>C (p.Ala285Pro) | |
| 5 | g.161330918C>T | CA3543442 | GABRB2 | c.1042G>A (p.Ala348Thr) n.1124G>A c.*501G>A (n.*501G>A) c.790G>A (p.Ala264Thr) c.292G>A (p.Ala98Thr) c.562G>A (p.Ala188Thr) c.853G>A (p.Ala285Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.161330919A>C | CA362175027 | GABRB2 | c.1041T>G (p.Ser347Arg) n.1123T>G c.*500T>G (n.*500T>G) c.789T>G (p.Ser263Arg) c.291T>G (p.Ser97Arg) c.561T>G (p.Ser187Arg) c.852T>G (p.Ser284Arg) | |
| 5 | g.161330919A>G | CA447691213 | GABRB2 | c.1041T>C (p.Ser347=) n.1123T>C c.*500T>C (n.*500T>C) c.789T>C (p.Ser263=) c.291T>C (p.Ser97=) c.561T>C (p.Ser187=) c.852T>C (p.Ser284=) | |
| 5 | g.161330919A>T | CA362175026 | GABRB2 | c.1041T>A (p.Ser347Arg) n.1123T>A c.*500T>A (n.*500T>A) c.789T>A (p.Ser263Arg) c.291T>A (p.Ser97Arg) c.561T>A (p.Ser187Arg) c.852T>A (p.Ser284Arg) | |
| 5 | g.161330920C>A | CA362175030 | GABRB2 | c.1040G>T (p.Ser347Ile) n.1122G>T c.*499G>T (n.*499G>T) c.788G>T (p.Ser263Ile) c.290G>T (p.Ser97Ile) c.560G>T (p.Ser187Ile) c.851G>T (p.Ser284Ile) | COSMIC COSMIC |
| 5 | g.161330920C= | CA1595983828 | GABRB2 | c.1040G= (p.Ser347=) n.1122G= c.*499G= (n.*499G=) c.788G= (p.Ser263=) c.290G= (p.Ser97=) c.560G= (p.Ser187=) c.851G= (p.Ser284=) | |
| 5 | g.161330920C>G | CA362175031 | GABRB2 | c.1040G>C (p.Ser347Thr) n.1122G>C c.*499G>C (n.*499G>C) c.788G>C (p.Ser263Thr) c.290G>C (p.Ser97Thr) c.560G>C (p.Ser187Thr) c.851G>C (p.Ser284Thr) | |
| 5 | g.161330920C>T | CA362175032 | GABRB2 | c.1040G>A (p.Ser347Asn) n.1122G>A c.*499G>A (n.*499G>A) c.788G>A (p.Ser263Asn) c.290G>A (p.Ser97Asn) c.560G>A (p.Ser187Asn) c.851G>A (p.Ser284Asn) | ClinVar dbSNP gnomAD v4 |
| 5 | g.161330921T>A | CA362175034 | GABRB2 | c.1039A>T (p.Ser347Cys) n.1121A>T c.*498A>T (n.*498A>T) c.787A>T (p.Ser263Cys) c.289A>T (p.Ser97Cys) c.559A>T (p.Ser187Cys) c.850A>T (p.Ser284Cys) | |
| 5 | g.161330921T>C | CA3543443 | GABRB2 | c.1039A>G (p.Ser347Gly) n.1121A>G c.*498A>G (n.*498A>G) c.787A>G (p.Ser263Gly) c.289A>G (p.Ser97Gly) c.559A>G (p.Ser187Gly) c.850A>G (p.Ser284Gly) | ClinVar dbSNP ExAC gnomAD v4 |
| 5 | g.161330921T>G | CA362175036 | GABRB2 | c.1039A>C (p.Ser347Arg) n.1121A>C c.*498A>C (n.*498A>C) c.787A>C (p.Ser263Arg) c.289A>C (p.Ser97Arg) c.559A>C (p.Ser187Arg) c.850A>C (p.Ser284Arg) | |
| 5 | g.161330921T= | CA1595983829 | GABRB2 | c.1039A= (p.Ser347=) n.1121A= c.*498A= (n.*498A=) c.787A= (p.Ser263=) c.289A= (p.Ser97=) c.559A= (p.Ser187=) c.850A= (p.Ser284=) | |
| 5 | g.161330922G>A | CA447691220 | GABRB2 | c.1038C>T (p.Ala346=) n.1120C>T c.*497C>T (n.*497C>T) c.786C>T (p.Ala262=) c.288C>T (p.Ala96=) c.558C>T (p.Ala186=) c.849C>T (p.Ala283=) | gnomAD v4 |
| 5 | g.161330922G>C | CA447691221 | GABRB2 | c.1038C>G (p.Ala346=) n.1120C>G c.*497C>G (n.*497C>G) c.786C>G (p.Ala262=) c.288C>G (p.Ala96=) c.558C>G (p.Ala186=) c.849C>G (p.Ala283=) | |
| 5 | g.161330922G>T | CA447691222 | GABRB2 | c.1038C>A (p.Ala346=) n.1120C>A c.*497C>A (n.*497C>A) c.786C>A (p.Ala262=) c.288C>A (p.Ala96=) c.558C>A (p.Ala186=) c.849C>A (p.Ala283=) | |
| 5 | g.161330923G>A | CA362175042 | GABRB2 | c.1037C>T (p.Ala346Val) n.1119C>T c.*496C>T (n.*496C>T) c.785C>T (p.Ala262Val) c.287C>T (p.Ala96Val) c.557C>T (p.Ala186Val) c.848C>T (p.Ala283Val) | |
| 5 | g.161330923G>C | CA362175040 | GABRB2 | c.1037C>G (p.Ala346Gly) n.1119C>G c.*496C>G (n.*496C>G) c.785C>G (p.Ala262Gly) c.287C>G (p.Ala96Gly) c.557C>G (p.Ala186Gly) c.848C>G (p.Ala283Gly) | |
| 5 | g.161330923G>T | CA362175039 | GABRB2 | c.1037C>A (p.Ala346Asp) n.1119C>A c.*496C>A (n.*496C>A) c.785C>A (p.Ala262Asp) c.287C>A (p.Ala96Asp) c.557C>A (p.Ala186Asp) c.848C>A (p.Ala283Asp) | |
| 5 | g.161330924C>A | CA362175044 | GABRB2 | c.1036G>T (p.Ala346Ser) n.1118G>T c.*495G>T (n.*495G>T) c.784G>T (p.Ala262Ser) c.286G>T (p.Ala96Ser) c.556G>T (p.Ala186Ser) c.847G>T (p.Ala283Ser) | |
| 5 | g.161330924C>G | CA362175046 | GABRB2 | c.1036G>C (p.Ala346Pro) n.1118G>C c.*495G>C (n.*495G>C) c.784G>C (p.Ala262Pro) c.286G>C (p.Ala96Pro) c.556G>C (p.Ala186Pro) c.847G>C (p.Ala283Pro) | gnomAD v4 |
| 5 | g.161330924C>T | CA362175047 | GABRB2 | c.1036G>A (p.Ala346Thr) n.1118G>A c.*495G>A (n.*495G>A) c.784G>A (p.Ala262Thr) c.286G>A (p.Ala96Thr) c.556G>A (p.Ala186Thr) c.847G>A (p.Ala283Thr) | |
| 5 | g.161330925A= | CA1595983830 | GABRB2 | c.1035T= (p.Ala345=) n.1117T= c.*494T= (n.*494T=) c.783T= (p.Ala261=) c.285T= (p.Ala95=) c.555T= (p.Ala185=) c.846T= (p.Ala282=) | |
| 5 | g.161330925A>C | CA447691225 | GABRB2 | c.1035T>G (p.Ala345=) n.1117T>G c.*494T>G (n.*494T>G) c.783T>G (p.Ala261=) c.285T>G (p.Ala95=) c.555T>G (p.Ala185=) c.846T>G (p.Ala282=) | |
| 5 | g.161330925A>G | CA447691227 | GABRB2 | c.1035T>C (p.Ala345=) n.1117T>C c.*494T>C (n.*494T>C) c.783T>C (p.Ala261=) c.285T>C (p.Ala95=) c.555T>C (p.Ala185=) c.846T>C (p.Ala282=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.161330925A>T | CA447691229 | GABRB2 | c.1035T>A (p.Ala345=) n.1117T>A c.*494T>A (n.*494T>A) c.783T>A (p.Ala261=) c.285T>A (p.Ala95=) c.555T>A (p.Ala185=) c.846T>A (p.Ala282=) | |
| 5 | g.161330926G>A | CA362175050 | GABRB2 | c.1034C>T (p.Ala345Val) n.1116C>T c.*493C>T (n.*493C>T) c.782C>T (p.Ala261Val) c.284C>T (p.Ala95Val) c.554C>T (p.Ala185Val) c.845C>T (p.Ala282Val) | gnomAD v4 |
| 5 | g.161330926G>C | CA362175051 | GABRB2 | c.1034C>G (p.Ala345Gly) n.1116C>G c.*493C>G (n.*493C>G) c.782C>G (p.Ala261Gly) c.284C>G (p.Ala95Gly) c.554C>G (p.Ala185Gly) c.845C>G (p.Ala282Gly) | |
| 5 | g.161330926G>T | CA362175053 | GABRB2 | c.1034C>A (p.Ala345Asp) n.1116C>A c.*493C>A (n.*493C>A) c.782C>A (p.Ala261Asp) c.284C>A (p.Ala95Asp) c.554C>A (p.Ala185Asp) c.845C>A (p.Ala282Asp) | |
| 5 | g.161330927C>A | CA362175058 | GABRB2 | c.1033G>T (p.Ala345Ser) n.1115G>T c.*492G>T (n.*492G>T) c.781G>T (p.Ala261Ser) c.283G>T (p.Ala95Ser) c.553G>T (p.Ala185Ser) c.844G>T (p.Ala282Ser) | |
| 5 | g.161330927C= | CA1595983831 | GABRB2 | c.1033G= (p.Ala345=) n.1115G= c.*492G= (n.*492G=) c.781G= (p.Ala261=) c.283G= (p.Ala95=) c.553G= (p.Ala185=) c.844G= (p.Ala282=) | |
| 5 | g.161330927C>G | CA362175056 | GABRB2 | c.1033G>C (p.Ala345Pro) n.1115G>C c.*492G>C (n.*492G>C) c.781G>C (p.Ala261Pro) c.283G>C (p.Ala95Pro) c.553G>C (p.Ala185Pro) c.844G>C (p.Ala282Pro) | dbSNP gnomAD v4 |
| 5 | g.161330927C>T | CA362175057 | GABRB2 | c.1033G>A (p.Ala345Thr) n.1115G>A c.*492G>A (n.*492G>A) c.781G>A (p.Ala261Thr) c.283G>A (p.Ala95Thr) c.553G>A (p.Ala185Thr) c.844G>A (p.Ala282Thr) | |
| 5 | g.161330928C>A | CA362175061 | GABRB2 | c.1032G>T (p.Lys344Asn) n.1114G>T c.*491G>T (n.*491G>T) c.780G>T (p.Lys260Asn) c.282G>T (p.Lys94Asn) c.552G>T (p.Lys184Asn) c.843G>T (p.Lys281Asn) | |
| 5 | g.161330928C>G | CA362175062 | GABRB2 | c.1032G>C (p.Lys344Asn) n.1114G>C c.*491G>C (n.*491G>C) c.780G>C (p.Lys260Asn) c.282G>C (p.Lys94Asn) c.552G>C (p.Lys184Asn) c.843G>C (p.Lys281Asn) | |
| 5 | g.161330928C>T | CA447691232 | GABRB2 | c.1032G>A (p.Lys344=) n.1114G>A c.*491G>A (n.*491G>A) c.780G>A (p.Lys260=) c.282G>A (p.Lys94=) c.552G>A (p.Lys184=) c.843G>A (p.Lys281=) | |
| 5 | g.161330929T>A | CA362175064 | GABRB2 | c.1031A>T (p.Lys344Met) n.1113A>T c.*490A>T (n.*490A>T) c.779A>T (p.Lys260Met) c.281A>T (p.Lys94Met) c.551A>T (p.Lys184Met) c.842A>T (p.Lys281Met) | |
| 5 | g.161330929T>C | CA362175066 | GABRB2 | c.1031A>G (p.Lys344Arg) n.1113A>G c.*490A>G (n.*490A>G) c.779A>G (p.Lys260Arg) c.281A>G (p.Lys94Arg) c.551A>G (p.Lys184Arg) c.842A>G (p.Lys281Arg) | |
| 5 | g.161330929T>G | CA362175068 | GABRB2 | c.1031A>C (p.Lys344Thr) n.1113A>C c.*490A>C (n.*490A>C) c.779A>C (p.Lys260Thr) c.281A>C (p.Lys94Thr) c.551A>C (p.Lys184Thr) c.842A>C (p.Lys281Thr) | |
| 5 | g.161330930T>A | CA362175070 | GABRB2 | c.1030A>T (p.Lys344Ter) n.1112A>T c.*489A>T (n.*489A>T) c.778A>T (p.Lys260Ter) c.280A>T (p.Lys94Ter) c.550A>T (p.Lys184Ter) c.841A>T (p.Lys281Ter) | |
| 5 | g.161330930T>C | CA362175071 | GABRB2 | c.1030A>G (p.Lys344Glu) n.1112A>G c.*489A>G (n.*489A>G) c.778A>G (p.Lys260Glu) c.280A>G (p.Lys94Glu) c.550A>G (p.Lys184Glu) c.841A>G (p.Lys281Glu) | |
| 5 | g.161330930T>G | CA362175073 | GABRB2 | c.1030A>C (p.Lys344Gln) n.1112A>C c.*489A>C (n.*489A>C) c.778A>C (p.Lys260Gln) c.280A>C (p.Lys94Gln) c.550A>C (p.Lys184Gln) c.841A>C (p.Lys281Gln) | |
| 5 | g.161330931C>A | CA362175076 | GABRB2 | c.1029G>T (p.Glu343Asp) n.1111G>T c.*488G>T (n.*488G>T) c.777G>T (p.Glu259Asp) c.279G>T (p.Glu93Asp) c.549G>T (p.Glu183Asp) c.840G>T (p.Glu280Asp) | gnomAD v4 |
| 5 | g.161330931C>G | CA362175077 | GABRB2 | c.1029G>C (p.Glu343Asp) n.1111G>C c.*488G>C (n.*488G>C) c.777G>C (p.Glu259Asp) c.279G>C (p.Glu93Asp) c.549G>C (p.Glu183Asp) c.840G>C (p.Glu280Asp) | |
| 5 | g.161330931C>T | CA447691236 | GABRB2 | c.1029G>A (p.Glu343=) n.1111G>A c.*488G>A (n.*488G>A) c.777G>A (p.Glu259=) c.279G>A (p.Glu93=) c.549G>A (p.Glu183=) c.840G>A (p.Glu280=) | |
| 5 | g.161330932T>A | CA362175080 | GABRB2 | c.1028A>T (p.Glu343Val) n.1110A>T c.*487A>T (n.*487A>T) c.776A>T (p.Glu259Val) c.278A>T (p.Glu93Val) c.548A>T (p.Glu183Val) c.839A>T (p.Glu280Val) | |
| 5 | g.161330932T>C | CA362175081 | GABRB2 | c.1028A>G (p.Glu343Gly) n.1110A>G c.*487A>G (n.*487A>G) c.776A>G (p.Glu259Gly) c.278A>G (p.Glu93Gly) c.548A>G (p.Glu183Gly) c.839A>G (p.Glu280Gly) | |
| 5 | g.161330932T>G | CA362175083 | GABRB2 | c.1028A>C (p.Glu343Ala) n.1110A>C c.*487A>C (n.*487A>C) c.776A>C (p.Glu259Ala) c.278A>C (p.Glu93Ala) c.548A>C (p.Glu183Ala) c.839A>C (p.Glu280Ala) | |
| 5 | g.161330933C>A | CA362175085 | GABRB2 | c.1027G>T (p.Glu343Ter) n.1109G>T c.*486G>T (n.*486G>T) c.775G>T (p.Glu259Ter) c.277G>T (p.Glu93Ter) c.547G>T (p.Glu183Ter) c.838G>T (p.Glu280Ter) | |
| 5 | g.161330933C>G | CA362175087 | GABRB2 | c.1027G>C (p.Glu343Gln) n.1109G>C c.*486G>C (n.*486G>C) c.775G>C (p.Glu259Gln) c.277G>C (p.Glu93Gln) c.547G>C (p.Glu183Gln) c.838G>C (p.Glu280Gln) | |
| 5 | g.161330933C>T | CA362175086 | GABRB2 | c.1027G>A (p.Glu343Lys) n.1109G>A c.*486G>A (n.*486G>A) c.775G>A (p.Glu259Lys) c.277G>A (p.Glu93Lys) c.547G>A (p.Glu183Lys) c.838G>A (p.Glu280Lys) | gnomAD v4 |
| 5 | g.161330934A>C | CA447691241 | GABRB2 | c.1026T>G (p.Ala342=) n.1108T>G c.*485T>G (n.*485T>G) c.774T>G (p.Ala258=) c.276T>G (p.Ala92=) c.546T>G (p.Ala182=) c.837T>G (p.Ala279=) | |
| 5 | g.161330934A>G | CA447691242 | GABRB2 | c.1026T>C (p.Ala342=) n.1108T>C c.*485T>C (n.*485T>C) c.774T>C (p.Ala258=) c.276T>C (p.Ala92=) c.546T>C (p.Ala182=) c.837T>C (p.Ala279=) | gnomAD v4 |
| 5 | g.161330934A>T | CA447691243 | GABRB2 | c.1026T>A (p.Ala342=) n.1108T>A c.*485T>A (n.*485T>A) c.774T>A (p.Ala258=) c.276T>A (p.Ala92=) c.546T>A (p.Ala182=) c.837T>A (p.Ala279=) | |
| 5 | g.161330935G>A | CA362175089 | GABRB2 | c.1025C>T (p.Ala342Val) n.1107C>T c.*484C>T (n.*484C>T) c.773C>T (p.Ala258Val) c.275C>T (p.Ala92Val) c.545C>T (p.Ala182Val) c.836C>T (p.Ala279Val) | gnomAD v4 COSMIC COSMIC |
| 5 | g.161330935G>C | CA362175091 | GABRB2 | c.1025C>G (p.Ala342Gly) n.1107C>G c.*484C>G (n.*484C>G) c.773C>G (p.Ala258Gly) c.275C>G (p.Ala92Gly) c.545C>G (p.Ala182Gly) c.836C>G (p.Ala279Gly) | |
| 5 | g.161330935G>T | CA362175093 | GABRB2 | c.1025C>A (p.Ala342Asp) n.1107C>A c.*484C>A (n.*484C>A) c.773C>A (p.Ala258Asp) c.275C>A (p.Ala92Asp) c.545C>A (p.Ala182Asp) c.836C>A (p.Ala279Asp) | |
| 5 | g.161330936C>A | CA362175094 | GABRB2 | c.1024G>T (p.Ala342Ser) n.1106G>T c.*483G>T (n.*483G>T) c.772G>T (p.Ala258Ser) c.274G>T (p.Ala92Ser) c.544G>T (p.Ala182Ser) c.835G>T (p.Ala279Ser) | |
| 5 | g.161330936C>G | CA362175096 | GABRB2 | c.1024G>C (p.Ala342Pro) n.1106G>C c.*483G>C (n.*483G>C) c.772G>C (p.Ala258Pro) c.274G>C (p.Ala92Pro) c.544G>C (p.Ala182Pro) c.835G>C (p.Ala279Pro) | |
| 5 | g.161330936C>T | CA362175098 | GABRB2 | c.1024G>A (p.Ala342Thr) n.1106G>A c.*483G>A (n.*483G>A) c.772G>A (p.Ala258Thr) c.274G>A (p.Ala92Thr) c.544G>A (p.Ala182Thr) c.835G>A (p.Ala279Thr) | |
| 5 | g.161330937T>A | CA447691246 | GABRB2 | c.1023A>T (p.Ala341=) n.1105A>T c.*482A>T (n.*482A>T) c.771A>T (p.Ala257=) c.273A>T (p.Ala91=) c.543A>T (p.Ala181=) c.834A>T (p.Ala278=) | |
| 5 | g.161330937T>C | CA447691247 | GABRB2 | c.1023A>G (p.Ala341=) n.1105A>G c.*482A>G (n.*482A>G) c.771A>G (p.Ala257=) c.273A>G (p.Ala91=) c.543A>G (p.Ala181=) c.834A>G (p.Ala278=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.161330937T>G | CA447691248 | GABRB2 | c.1023A>C (p.Ala341=) n.1105A>C c.*482A>C (n.*482A>C) c.771A>C (p.Ala257=) c.273A>C (p.Ala91=) c.543A>C (p.Ala181=) c.834A>C (p.Ala278=) | gnomAD v4 |
| 5 | g.161330937T= | CA1595983832 | GABRB2 | c.1023A= (p.Ala341=) n.1105A= c.*482A= (n.*482A=) c.771A= (p.Ala257=) c.273A= (p.Ala91=) c.543A= (p.Ala181=) c.834A= (p.Ala278=) | |
| 5 | g.161330938G>A | CA362175102 | GABRB2 | c.1022C>T (p.Ala341Val) n.1104C>T c.*481C>T (n.*481C>T) c.770C>T (p.Ala257Val) c.272C>T (p.Ala91Val) c.542C>T (p.Ala181Val) c.833C>T (p.Ala278Val) | |
| 5 | g.161330938G>C | CA362175100 | GABRB2 | c.1022C>G (p.Ala341Gly) n.1104C>G c.*481C>G (n.*481C>G) c.770C>G (p.Ala257Gly) c.272C>G (p.Ala91Gly) c.542C>G (p.Ala181Gly) c.833C>G (p.Ala278Gly) | |
| 5 | g.161330938G= | CA1595983833 | GABRB2 | c.1022C= (p.Ala341=) n.1104C= c.*481C= (n.*481C=) c.770C= (p.Ala257=) c.272C= (p.Ala91=) c.542C= (p.Ala181=) c.833C= (p.Ala278=) | |
| 5 | g.161330938G>T | CA362175101 | GABRB2 | c.1022C>A (p.Ala341Glu) n.1104C>A c.*481C>A (n.*481C>A) c.770C>A (p.Ala257Glu) c.272C>A (p.Ala91Glu) c.542C>A (p.Ala181Glu) c.833C>A (p.Ala278Glu) | dbSNP |
| 5 | g.161330939C>A | CA362175103 | GABRB2 | c.1021G>T (p.Ala341Ser) n.1103G>T c.*480G>T (n.*480G>T) c.769G>T (p.Ala257Ser) c.271G>T (p.Ala91Ser) c.541G>T (p.Ala181Ser) c.832G>T (p.Ala278Ser) | |
| 5 | g.161330939C>G | CA362175104 | GABRB2 | c.1021G>C (p.Ala341Pro) n.1103G>C c.*480G>C (n.*480G>C) c.769G>C (p.Ala257Pro) c.271G>C (p.Ala91Pro) c.541G>C (p.Ala181Pro) c.832G>C (p.Ala278Pro) | |
| 5 | g.161330939C>T | CA362175105 | GABRB2 | c.1021G>A (p.Ala341Thr) n.1103G>A c.*480G>A (n.*480G>A) c.769G>A (p.Ala257Thr) c.271G>A (p.Ala91Thr) c.541G>A (p.Ala181Thr) c.832G>A (p.Ala278Thr) | |
| 5 | g.161330940T>A | CA362175106 | GABRB2 | c.1020A>T (p.Lys340Asn) n.1102A>T c.*479A>T (n.*479A>T) c.768A>T (p.Lys256Asn) c.270A>T (p.Lys90Asn) c.540A>T (p.Lys180Asn) c.831A>T (p.Lys277Asn) | |
| 5 | g.161330940T>C | CA447691253 | GABRB2 | c.1020A>G (p.Lys340=) n.1102A>G c.*479A>G (n.*479A>G) c.768A>G (p.Lys256=) c.270A>G (p.Lys90=) c.540A>G (p.Lys180=) c.831A>G (p.Lys277=) | |
| 5 | g.161330940T>G | CA362175107 | GABRB2 | c.1020A>C (p.Lys340Asn) n.1102A>C c.*479A>C (n.*479A>C) c.768A>C (p.Lys256Asn) c.270A>C (p.Lys90Asn) c.540A>C (p.Lys180Asn) c.831A>C (p.Lys277Asn) | |
| 5 | g.161330941T>A | CA362175108 | GABRB2 | c.1019A>T (p.Lys340Ile) n.1101A>T c.*478A>T (n.*478A>T) c.767A>T (p.Lys256Ile) c.269A>T (p.Lys90Ile) c.539A>T (p.Lys180Ile) c.830A>T (p.Lys277Ile) | |
| 5 | g.161330941T>C | CA362175110 | GABRB2 | c.1019A>G (p.Lys340Arg) n.1101A>G c.*478A>G (n.*478A>G) c.767A>G (p.Lys256Arg) c.269A>G (p.Lys90Arg) c.539A>G (p.Lys180Arg) c.830A>G (p.Lys277Arg) | |
| 5 | g.161330941T>G | CA362175109 | GABRB2 | c.1019A>C (p.Lys340Thr) n.1101A>C c.*478A>C (n.*478A>C) c.767A>C (p.Lys256Thr) c.269A>C (p.Lys90Thr) c.539A>C (p.Lys180Thr) c.830A>C (p.Lys277Thr) | |
| 5 | g.161330942T>A | CA362175111 | GABRB2 | c.1018A>T (p.Lys340Ter) n.1100A>T c.*477A>T (n.*477A>T) c.766A>T (p.Lys256Ter) c.268A>T (p.Lys90Ter) c.538A>T (p.Lys180Ter) c.829A>T (p.Lys277Ter) | COSMIC COSMIC |
| 5 | g.161330942T>C | CA362175112 | GABRB2 | c.1018A>G (p.Lys340Glu) n.1100A>G c.*477A>G (n.*477A>G) c.766A>G (p.Lys256Glu) c.268A>G (p.Lys90Glu) c.538A>G (p.Lys180Glu) c.829A>G (p.Lys277Glu) | |
| 5 | g.161330942T>G | CA362175113 | GABRB2 | c.1018A>C (p.Lys340Gln) n.1100A>C c.*477A>C (n.*477A>C) c.766A>C (p.Lys256Gln) c.268A>C (p.Lys90Gln) c.538A>C (p.Lys180Gln) c.829A>C (p.Lys277Gln) | |
| 5 | g.161330943C>A | CA362175114 | GABRB2 | c.1017G>T (p.Lys339Asn) n.1099G>T c.*476G>T (n.*476G>T) c.765G>T (p.Lys255Asn) c.267G>T (p.Lys89Asn) c.537G>T (p.Lys179Asn) c.828G>T (p.Lys276Asn) | |
| 5 | g.161330943C= | CA1595983834 | GABRB2 | c.1017G= (p.Lys339=) n.1099G= c.*476G= (n.*476G=) c.765G= (p.Lys255=) c.267G= (p.Lys89=) c.537G= (p.Lys179=) c.828G= (p.Lys276=) | |
| 5 | g.161330943C>G | CA362175115 | GABRB2 | c.1017G>C (p.Lys339Asn) n.1099G>C c.*476G>C (n.*476G>C) c.765G>C (p.Lys255Asn) c.267G>C (p.Lys89Asn) c.537G>C (p.Lys179Asn) c.828G>C (p.Lys276Asn) | |
| 5 | g.161330943C>T | CA447691263 | GABRB2 | c.1017G>A (p.Lys339=) n.1099G>A c.*476G>A (n.*476G>A) c.765G>A (p.Lys255=) c.267G>A (p.Lys89=) c.537G>A (p.Lys179=) c.828G>A (p.Lys276=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.161330944T>A | CA362175116 | GABRB2 | c.1016A>T (p.Lys339Met) n.1098A>T c.*475A>T (n.*475A>T) c.764A>T (p.Lys255Met) c.266A>T (p.Lys89Met) c.536A>T (p.Lys179Met) c.827A>T (p.Lys276Met) | |
| 5 | g.161330944T>C | CA362175117 | GABRB2 | c.1016A>G (p.Lys339Arg) n.1098A>G c.*475A>G (n.*475A>G) c.764A>G (p.Lys255Arg) c.266A>G (p.Lys89Arg) c.536A>G (p.Lys179Arg) c.827A>G (p.Lys276Arg) | gnomAD v4 |
| 5 | g.161330944T>G | CA362175118 | GABRB2 | c.1016A>C (p.Lys339Thr) n.1098A>C c.*475A>C (n.*475A>C) c.764A>C (p.Lys255Thr) c.266A>C (p.Lys89Thr) c.536A>C (p.Lys179Thr) c.827A>C (p.Lys276Thr) | |
| 5 | g.161330945T>A | CA362175119 | GABRB2 | c.1015A>T (p.Lys339Ter) n.1097A>T c.*474A>T (n.*474A>T) c.763A>T (p.Lys255Ter) c.265A>T (p.Lys89Ter) c.535A>T (p.Lys179Ter) c.826A>T (p.Lys276Ter) | COSMIC COSMIC |
| 5 | g.161330945T>C | CA362175120 | GABRB2 | c.1015A>G (p.Lys339Glu) n.1097A>G c.*474A>G (n.*474A>G) c.763A>G (p.Lys255Glu) c.265A>G (p.Lys89Glu) c.535A>G (p.Lys179Glu) c.826A>G (p.Lys276Glu) | |
| 5 | g.161330945T>G | CA362175121 | GABRB2 | c.1015A>C (p.Lys339Gln) n.1097A>C c.*474A>C (n.*474A>C) c.763A>C (p.Lys255Gln) c.265A>C (p.Lys89Gln) c.535A>C (p.Lys179Gln) c.826A>C (p.Lys276Gln) | |
| 5 | g.161330946T>A | CA362175122 | GABRB2 | c.1014A>T (p.Gln338His) n.1096A>T c.*473A>T (n.*473A>T) c.762A>T (p.Gln254His) c.264A>T (p.Gln88His) c.534A>T (p.Gln178His) c.825A>T (p.Gln275His) | |
| 5 | g.161330946T>C | CA3543444 | GABRB2 | c.1014A>G (p.Gln338=) n.1096A>G c.*473A>G (n.*473A>G) c.762A>G (p.Gln254=) c.264A>G (p.Gln88=) c.534A>G (p.Gln178=) c.825A>G (p.Gln275=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.161330946T>G | CA362175123 | GABRB2 | c.1014A>C (p.Gln338His) n.1096A>C c.*473A>C (n.*473A>C) c.762A>C (p.Gln254His) c.264A>C (p.Gln88His) c.534A>C (p.Gln178His) c.825A>C (p.Gln275His) | |
| 5 | g.161330946T= | CA1595983835 | GABRB2 | c.1014A= (p.Gln338=) n.1096A= c.*473A= (n.*473A=) c.762A= (p.Gln254=) c.264A= (p.Gln88=) c.534A= (p.Gln178=) c.825A= (p.Gln275=) | |
| 5 | g.161330947T>A | CA362175124 | GABRB2 | c.1013A>T (p.Gln338Leu) n.1095A>T c.*472A>T (n.*472A>T) c.761A>T (p.Gln254Leu) c.263A>T (p.Gln88Leu) c.533A>T (p.Gln178Leu) c.824A>T (p.Gln275Leu) | |
| 5 | g.161330947T>C | CA362175126 | GABRB2 | c.1013A>G (p.Gln338Arg) n.1095A>G c.*472A>G (n.*472A>G) c.761A>G (p.Gln254Arg) c.263A>G (p.Gln88Arg) c.533A>G (p.Gln178Arg) c.824A>G (p.Gln275Arg) | gnomAD v4 |
| 5 | g.161330947T>G | CA362175125 | GABRB2 | c.1013A>C (p.Gln338Pro) n.1095A>C c.*472A>C (n.*472A>C) c.761A>C (p.Gln254Pro) c.263A>C (p.Gln88Pro) c.533A>C (p.Gln178Pro) c.824A>C (p.Gln275Pro) | |
| 5 | g.161330948G>A | CA362175127 | GABRB2 | c.1012C>T (p.Gln338Ter) n.1094C>T c.*471C>T (n.*471C>T) c.760C>T (p.Gln254Ter) c.262C>T (p.Gln88Ter) c.532C>T (p.Gln178Ter) c.823C>T (p.Gln275Ter) | |
| 5 | g.161330948G>C | CA362175128 | GABRB2 | c.1012C>G (p.Gln338Glu) n.1094C>G c.*471C>G (n.*471C>G) c.760C>G (p.Gln254Glu) c.262C>G (p.Gln88Glu) c.532C>G (p.Gln178Glu) c.823C>G (p.Gln275Glu) | gnomAD v4 |
| 5 | g.161330948G= | CA1595983836 | GABRB2 | c.1012C= (p.Gln338=) n.1094C= c.*471C= (n.*471C=) c.760C= (p.Gln254=) c.262C= (p.Gln88=) c.532C= (p.Gln178=) c.823C= (p.Gln275=) | |
| 5 | g.161330948G>T | CA362175129 | GABRB2 | c.1012C>A (p.Gln338Lys) n.1094C>A c.*471C>A (n.*471C>A) c.760C>A (p.Gln254Lys) c.262C>A (p.Gln88Lys) c.532C>A (p.Gln178Lys) c.823C>A (p.Gln275Lys) | dbSNP gnomAD v4 |
| 5 | g.161330949G>A | CA447691276 | GABRB2 | c.1011C>T (p.Arg337=) n.1093C>T c.*470C>T (n.*470C>T) c.759C>T (p.Arg253=) c.261C>T (p.Arg87=) c.531C>T (p.Arg177=) c.822C>T (p.Arg274=) | |
| 5 | g.161330949G>C | CA447691277 | GABRB2 | c.1011C>G (p.Arg337=) n.1093C>G c.*470C>G (n.*470C>G) c.759C>G (p.Arg253=) c.261C>G (p.Arg87=) c.531C>G (p.Arg177=) c.822C>G (p.Arg274=) | |
| 5 | g.161330949G>T | CA447691275 | GABRB2 | c.1011C>A (p.Arg337=) n.1093C>A c.*470C>A (n.*470C>A) c.759C>A (p.Arg253=) c.261C>A (p.Arg87=) c.531C>A (p.Arg177=) c.822C>A (p.Arg274=) | |
| 5 | g.161330950C>A | CA362175130 | GABRB2 | c.1010G>T (p.Arg337Leu) n.1092G>T c.*469G>T (n.*469G>T) c.758G>T (p.Arg253Leu) c.260G>T (p.Arg87Leu) c.530G>T (p.Arg177Leu) c.821G>T (p.Arg274Leu) | |
| 5 | g.161330950C= | CA1595983837 | GABRB2 | c.1010G= (p.Arg337=) n.1092G= c.*469G= (n.*469G=) c.758G= (p.Arg253=) c.260G= (p.Arg87=) c.530G= (p.Arg177=) c.821G= (p.Arg274=) | |
| 5 | g.161330950C>G | CA362175131 | GABRB2 | c.1010G>C (p.Arg337Pro) n.1092G>C c.*469G>C (n.*469G>C) c.758G>C (p.Arg253Pro) c.260G>C (p.Arg87Pro) c.530G>C (p.Arg177Pro) c.821G>C (p.Arg274Pro) | |
| 5 | g.161330950C>T | CA3543445 | GABRB2 | c.1010G>A (p.Arg337His) n.1092G>A c.*469G>A (n.*469G>A) c.758G>A (p.Arg253His) c.260G>A (p.Arg87His) c.530G>A (p.Arg177His) c.821G>A (p.Arg274His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.161330951G>A | CA3543446 | GABRB2 | c.1009C>T (p.Arg337Cys) n.1091C>T c.*468C>T (n.*468C>T) c.757C>T (p.Arg253Cys) c.259C>T (p.Arg87Cys) c.529C>T (p.Arg177Cys) c.820C>T (p.Arg274Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 5 | g.161330951G>C | CA362175132 | GABRB2 | c.1009C>G (p.Arg337Gly) n.1091C>G c.*468C>G (n.*468C>G) c.757C>G (p.Arg253Gly) c.259C>G (p.Arg87Gly) c.529C>G (p.Arg177Gly) c.820C>G (p.Arg274Gly) | |
| 5 | g.161330951G= | CA1595983838 | GABRB2 | c.1009C= (p.Arg337=) n.1091C= c.*468C= (n.*468C=) c.757C= (p.Arg253=) c.259C= (p.Arg87=) c.529C= (p.Arg177=) c.820C= (p.Arg274=) | |
| 5 | g.161330951G>T | CA362175133 | GABRB2 | c.1009C>A (p.Arg337Ser) n.1091C>A c.*468C>A (n.*468C>A) c.757C>A (p.Arg253Ser) c.259C>A (p.Arg87Ser) c.529C>A (p.Arg177Ser) c.820C>A (p.Arg274Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.161330952T>A | CA3543447 | GABRB2 | c.1008A>T (p.Gln336His) n.1090A>T c.*467A>T (n.*467A>T) c.756A>T (p.Gln252His) c.258A>T (p.Gln86His) c.528A>T (p.Gln176His) c.819A>T (p.Gln273His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.161330952T>C | CA3543448 | GABRB2 | c.1008A>G (p.Gln336=) n.1090A>G c.*467A>G (n.*467A>G) c.756A>G (p.Gln252=) c.258A>G (p.Gln86=) c.528A>G (p.Gln176=) c.819A>G (p.Gln273=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.161330952T>G | CA362175134 | GABRB2 | c.1008A>C (p.Gln336His) n.1090A>C c.*467A>C (n.*467A>C) c.756A>C (p.Gln252His) c.258A>C (p.Gln86His) c.528A>C (p.Gln176His) c.819A>C (p.Gln273His) | |
| 5 | g.161330952T= | CA1595983839 | GABRB2 | c.1008A= (p.Gln336=) n.1090A= c.*467A= (n.*467A=) c.756A= (p.Gln252=) c.258A= (p.Gln86=) c.528A= (p.Gln176=) c.819A= (p.Gln273=) | |
| 5 | g.161330953T>A | CA362175135 | GABRB2 | c.1007A>T (p.Gln336Leu) n.1089A>T c.*466A>T (n.*466A>T) c.755A>T (p.Gln252Leu) c.257A>T (p.Gln86Leu) c.527A>T (p.Gln176Leu) c.818A>T (p.Gln273Leu) | |
| 5 | g.161330953T>C | CA362175137 | GABRB2 | c.1007A>G (p.Gln336Arg) n.1089A>G c.*466A>G (n.*466A>G) c.755A>G (p.Gln252Arg) c.257A>G (p.Gln86Arg) c.527A>G (p.Gln176Arg) c.818A>G (p.Gln273Arg) | |
| 5 | g.161330953T>G | CA362175136 | GABRB2 | c.1007A>C (p.Gln336Pro) n.1089A>C c.*466A>C (n.*466A>C) c.755A>C (p.Gln252Pro) c.257A>C (p.Gln86Pro) c.527A>C (p.Gln176Pro) c.818A>C (p.Gln273Pro) | |
| 5 | g.161330954G>A | CA362175138 | GABRB2 | c.1006C>T (p.Gln336Ter) n.1088C>T c.*465C>T (n.*465C>T) c.754C>T (p.Gln252Ter) c.256C>T (p.Gln86Ter) c.526C>T (p.Gln176Ter) c.817C>T (p.Gln273Ter) | |
| 5 | g.161330954G>C | CA362175139 | GABRB2 | c.1006C>G (p.Gln336Glu) n.1088C>G c.*465C>G (n.*465C>G) c.754C>G (p.Gln252Glu) c.256C>G (p.Gln86Glu) c.526C>G (p.Gln176Glu) c.817C>G (p.Gln273Glu) | |
| 5 | g.161330954G>T | CA362175140 | GABRB2 | c.1006C>A (p.Gln336Lys) n.1088C>A c.*465C>A (n.*465C>A) c.754C>A (p.Gln252Lys) c.256C>A (p.Gln86Lys) c.526C>A (p.Gln176Lys) c.817C>A (p.Gln273Lys) | |
| 5 | g.161330955G>A | CA447691302 | GABRB2 | c.1005C>T (p.Pro335=) n.1087C>T c.*464C>T (n.*464C>T) c.753C>T (p.Pro251=) c.255C>T (p.Pro85=) c.525C>T (p.Pro175=) c.816C>T (p.Pro272=) | |
| 5 | g.161330955G>C | CA3543449 | GABRB2 | c.1005C>G (p.Pro335=) n.1087C>G c.*464C>G (n.*464C>G) c.753C>G (p.Pro251=) c.255C>G (p.Pro85=) c.525C>G (p.Pro175=) c.816C>G (p.Pro272=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.161330955G= | CA1595983840 | GABRB2 | c.1005C= (p.Pro335=) n.1087C= c.*464C= (n.*464C=) c.753C= (p.Pro251=) c.255C= (p.Pro85=) c.525C= (p.Pro175=) c.816C= (p.Pro272=) | |
| 5 | g.161330955G>T | CA447691305 | GABRB2 | c.1005C>A (p.Pro335=) n.1087C>A c.*464C>A (n.*464C>A) c.753C>A (p.Pro251=) c.255C>A (p.Pro85=) c.525C>A (p.Pro175=) c.816C>A (p.Pro272=) | gnomAD v4 |
| 5 | g.161330956G>A | CA362175141 | GABRB2 | c.1004C>T (p.Pro335Leu) n.1086C>T c.*463C>T (n.*463C>T) c.752C>T (p.Pro251Leu) c.254C>T (p.Pro85Leu) c.524C>T (p.Pro175Leu) c.815C>T (p.Pro272Leu) | |
| 5 | g.161330956G>C | CA362175142 | GABRB2 | c.1004C>G (p.Pro335Arg) n.1086C>G c.*463C>G (n.*463C>G) c.752C>G (p.Pro251Arg) c.254C>G (p.Pro85Arg) c.524C>G (p.Pro175Arg) c.815C>G (p.Pro272Arg) | |
| 5 | g.161330956G>T | CA362175143 | GABRB2 | c.1004C>A (p.Pro335His) n.1086C>A c.*463C>A (n.*463C>A) c.752C>A (p.Pro251His) c.254C>A (p.Pro85His) c.524C>A (p.Pro175His) c.815C>A (p.Pro272His) | |
| 5 | g.161330957G>A | CA362175144 | GABRB2 | c.1003C>T (p.Pro335Ser) n.1085C>T c.*462C>T (n.*462C>T) c.751C>T (p.Pro251Ser) c.253C>T (p.Pro85Ser) c.523C>T (p.Pro175Ser) c.814C>T (p.Pro272Ser) | |
| 5 | g.161330957G>C | CA362175145 | GABRB2 | c.1003C>G (p.Pro335Ala) n.1085C>G c.*462C>G (n.*462C>G) c.751C>G (p.Pro251Ala) c.253C>G (p.Pro85Ala) c.523C>G (p.Pro175Ala) c.814C>G (p.Pro272Ala) | |
| 5 | g.161330957G>T | CA362175146 | GABRB2 | c.1003C>A (p.Pro335Thr) n.1085C>A c.*462C>A (n.*462C>A) c.751C>A (p.Pro251Thr) c.253C>A (p.Pro85Thr) c.523C>A (p.Pro175Thr) c.814C>A (p.Pro272Thr) | dbSNP |
| 5 | g.161330958C>A | CA447691307 | GABRB2 | c.1002G>T (p.Gly334=) n.1084G>T c.*461G>T (n.*461G>T) c.750G>T (p.Gly250=) c.252G>T (p.Gly84=) c.522G>T (p.Gly174=) c.813G>T (p.Gly271=) | COSMIC COSMIC |
| 5 | g.161330958C= | CA1595983841 | GABRB2 | c.1002G= (p.Gly334=) n.1084G= c.*461G= (n.*461G=) c.750G= (p.Gly250=) c.252G= (p.Gly84=) c.522G= (p.Gly174=) c.813G= (p.Gly271=) | |
| 5 | g.161330958C>G | CA447691308 | GABRB2 | c.1002G>C (p.Gly334=) n.1084G>C c.*461G>C (n.*461G>C) c.750G>C (p.Gly250=) c.252G>C (p.Gly84=) c.522G>C (p.Gly174=) c.813G>C (p.Gly271=) | |
| 5 | g.161330958C>T | CA447691309 | GABRB2 | c.1002G>A (p.Gly334=) n.1084G>A c.*461G>A (n.*461G>A) c.750G>A (p.Gly250=) c.252G>A (p.Gly84=) c.522G>A (p.Gly174=) c.813G>A (p.Gly271=) | dbSNP |
| 5 | g.161330962dup | CA2769169077 | GABRB2 | c.1002dup (p.Pro335AlafsTer9) n.1084dup c.*461dup (n.*461dup) c.750dup (p.Pro251AlafsTer9) c.252dup (p.Pro85AlafsTer9) c.522dup (p.Pro175AlafsTer9) c.813dup (p.Pro272AlafsTer9) | |
| 5 | g.161330959C>A | CA362175147 | GABRB2 | c.1001G>T (p.Gly334Val) n.1083G>T c.*460G>T (n.*460G>T) c.749G>T (p.Gly250Val) c.251G>T (p.Gly84Val) c.521G>T (p.Gly174Val) c.812G>T (p.Gly271Val) | |
| 5 | g.161330959C= | CA1595983842 | GABRB2 | c.1001G= (p.Gly334=) n.1083G= c.*460G= (n.*460G=) c.749G= (p.Gly250=) c.251G= (p.Gly84=) c.521G= (p.Gly174=) c.812G= (p.Gly271=) | |
| 5 | g.161330959C>G | CA362175148 | GABRB2 | c.1001G>C (p.Gly334Ala) n.1083G>C c.*460G>C (n.*460G>C) c.749G>C (p.Gly250Ala) c.251G>C (p.Gly84Ala) c.521G>C (p.Gly174Ala) c.812G>C (p.Gly271Ala) | |
| 5 | g.161330959C>T | CA3543450 | GABRB2 | c.1001G>A (p.Gly334Glu) n.1083G>A c.*460G>A (n.*460G>A) c.749G>A (p.Gly250Glu) c.251G>A (p.Gly84Glu) c.521G>A (p.Gly174Glu) c.812G>A (p.Gly271Glu) | dbSNP ExAC gnomAD v2 |
| 5 | g.161330960C>A | CA362175149 | GABRB2 | c.1000G>T (p.Gly334Trp) n.1082G>T c.*459G>T (n.*459G>T) c.748G>T (p.Gly250Trp) c.250G>T (p.Gly84Trp) c.520G>T (p.Gly174Trp) c.811G>T (p.Gly271Trp) | |
| 5 | g.161330960C>G | CA362175150 | GABRB2 | c.1000G>C (p.Gly334Arg) n.1082G>C c.*459G>C (n.*459G>C) c.748G>C (p.Gly250Arg) c.250G>C (p.Gly84Arg) c.520G>C (p.Gly174Arg) c.811G>C (p.Gly271Arg) | |
| 5 | g.161330960C>T | CA362175151 | GABRB2 | c.1000G>A (p.Gly334Arg) n.1082G>A c.*459G>A (n.*459G>A) c.748G>A (p.Gly250Arg) c.250G>A (p.Gly84Arg) c.520G>A (p.Gly174Arg) c.811G>A (p.Gly271Arg) | COSMIC COSMIC |
| 5 | g.161330961C>A | CA362175152 | GABRB2 | c.999G>T (p.Arg333Ser) n.1081G>T c.*458G>T (n.*458G>T) c.747G>T (p.Arg249Ser) c.249G>T (p.Arg83Ser) c.519G>T (p.Arg173Ser) c.810G>T (p.Arg270Ser) | |
| 5 | g.161330961C= | CA1595983843 | GABRB2 | c.999G= (p.Arg333=) n.1081G= c.*458G= (n.*458G=) c.747G= (p.Arg249=) c.249G= (p.Arg83=) c.519G= (p.Arg173=) c.810G= (p.Arg270=) | |
| 5 | g.161330961C>G | CA362175153 | GABRB2 | c.999G>C (p.Arg333Ser) n.1081G>C c.*458G>C (n.*458G>C) c.747G>C (p.Arg249Ser) c.249G>C (p.Arg83Ser) c.519G>C (p.Arg173Ser) c.810G>C (p.Arg270Ser) | |
| 5 | g.161330961C>T | CA3543451 | GABRB2 | c.999G>A (p.Arg333=) n.1081G>A c.*458G>A (n.*458G>A) c.747G>A (p.Arg249=) c.249G>A (p.Arg83=) c.519G>A (p.Arg173=) c.810G>A (p.Arg270=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.161330962C>A | CA362175154 | GABRB2 | c.998G>T (p.Arg333Met) n.1080G>T c.*457G>T (n.*457G>T) c.746G>T (p.Arg249Met) c.248G>T (p.Arg83Met) c.518G>T (p.Arg173Met) c.809G>T (p.Arg270Met) | |
| 5 | g.161330962C= | CA1595983844 | GABRB2 | c.998G= (p.Arg333=) n.1080G= c.*457G= (n.*457G=) c.746G= (p.Arg249=) c.248G= (p.Arg83=) c.518G= (p.Arg173=) c.809G= (p.Arg270=) | |
| 5 | g.161330962C>G | CA3543452 | GABRB2 | c.998G>C (p.Arg333Thr) n.1080G>C c.*457G>C (n.*457G>C) c.746G>C (p.Arg249Thr) c.248G>C (p.Arg83Thr) c.518G>C (p.Arg173Thr) c.809G>C (p.Arg270Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.161330962C>T | CA362175155 | GABRB2 | c.998G>A (p.Arg333Lys) n.1080G>A c.*457G>A (n.*457G>A) c.746G>A (p.Arg249Lys) c.248G>A (p.Arg83Lys) c.518G>A (p.Arg173Lys) c.809G>A (p.Arg270Lys) | |
| 5 | g.161330963T>A | CA362175156 | GABRB2 | c.997A>T (p.Arg333Trp) n.1079A>T c.*456A>T (n.*456A>T) c.745A>T (p.Arg249Trp) c.247A>T (p.Arg83Trp) c.517A>T (p.Arg173Trp) c.808A>T (p.Arg270Trp) | |
| 5 | g.161330963T>C | CA362175157 | GABRB2 | c.997A>G (p.Arg333Gly) n.1079A>G c.*456A>G (n.*456A>G) c.745A>G (p.Arg249Gly) c.247A>G (p.Arg83Gly) c.517A>G (p.Arg173Gly) c.808A>G (p.Arg270Gly) | COSMIC COSMIC |
| 5 | g.161330963T>G | CA447691320 | GABRB2 | c.997A>C (p.Arg333=) n.1079A>C c.*456A>C (n.*456A>C) c.745A>C (p.Arg249=) c.247A>C (p.Arg83=) c.517A>C (p.Arg173=) c.808A>C (p.Arg270=) | |
| 5 | g.161330964C>A | CA447691321 | GABRB2 | c.996G>T (p.Gly332=) n.1078G>T c.*455G>T (n.*455G>T) c.744G>T (p.Gly248=) c.246G>T (p.Gly82=) c.516G>T (p.Gly172=) c.807G>T (p.Gly269=) | |
| 5 | g.161330964C= | CA1595983845 | GABRB2 | c.996G= (p.Gly332=) n.1078G= c.*455G= (n.*455G=) c.744G= (p.Gly248=) c.246G= (p.Gly82=) c.516G= (p.Gly172=) c.807G= (p.Gly269=) | |
| 5 | g.161330964C>G | CA447691323 | GABRB2 | c.996G>C (p.Gly332=) n.1078G>C c.*455G>C (n.*455G>C) c.744G>C (p.Gly248=) c.246G>C (p.Gly82=) c.516G>C (p.Gly172=) c.807G>C (p.Gly269=) | |
| 5 | g.161330964C>T | CA3543453 | GABRB2 | c.996G>A (p.Gly332=) n.1078G>A c.*455G>A (n.*455G>A) c.744G>A (p.Gly248=) c.246G>A (p.Gly82=) c.516G>A (p.Gly172=) c.807G>A (p.Gly269=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 5 | g.161330965C>A | CA362175159 | GABRB2 | c.995G>T (p.Gly332Val) n.1077G>T c.*454G>T (n.*454G>T) c.743G>T (p.Gly248Val) c.245G>T (p.Gly82Val) c.515G>T (p.Gly172Val) c.806G>T (p.Gly269Val) | |
| 5 | g.161330965C>G | CA362175160 | GABRB2 | c.995G>C (p.Gly332Ala) n.1077G>C c.*454G>C (n.*454G>C) c.743G>C (p.Gly248Ala) c.245G>C (p.Gly82Ala) c.515G>C (p.Gly172Ala) c.806G>C (p.Gly269Ala) | |
| 5 | g.161330965C>T | CA362175158 | GABRB2 | c.995G>A (p.Gly332Glu) n.1077G>A c.*454G>A (n.*454G>A) c.743G>A (p.Gly248Glu) c.245G>A (p.Gly82Glu) c.515G>A (p.Gly172Glu) c.806G>A (p.Gly269Glu) | COSMIC COSMIC |
| 5 | g.161330966C>A | CA362175161 | GABRB2 | c.994G>T (p.Gly332Trp) n.1076G>T c.*453G>T (n.*453G>T) c.742G>T (p.Gly248Trp) c.244G>T (p.Gly82Trp) c.514G>T (p.Gly172Trp) c.805G>T (p.Gly269Trp) | |
| 5 | g.161330966C>G | CA362175162 | GABRB2 | c.994G>C (p.Gly332Arg) n.1076G>C c.*453G>C (n.*453G>C) c.742G>C (p.Gly248Arg) c.244G>C (p.Gly82Arg) c.514G>C (p.Gly172Arg) c.805G>C (p.Gly269Arg) | |
| 5 | g.161330966C>T | CA362175163 | GABRB2 | c.994G>A (p.Gly332Arg) n.1076G>A c.*453G>A (n.*453G>A) c.742G>A (p.Gly248Arg) c.244G>A (p.Gly82Arg) c.514G>A (p.Gly172Arg) c.805G>A (p.Gly269Arg) | |
| 5 | g.161330967A= | CA1595983846 | GABRB2 | c.993T= (p.Phe331=) n.1075T= c.*452T= (n.*452T=) c.741T= (p.Phe247=) c.243T= (p.Phe81=) c.513T= (p.Phe171=) c.804T= (p.Phe268=) | |
| 5 | g.161330967A>C | CA362175164 | GABRB2 | c.993T>G (p.Phe331Leu) n.1075T>G c.*452T>G (n.*452T>G) c.741T>G (p.Phe247Leu) c.243T>G (p.Phe81Leu) c.513T>G (p.Phe171Leu) c.804T>G (p.Phe268Leu) | |
| 5 | g.161330967A>G | CA447691328 | GABRB2 | c.993T>C (p.Phe331=) n.1075T>C c.*452T>C (n.*452T>C) c.741T>C (p.Phe247=) c.243T>C (p.Phe81=) c.513T>C (p.Phe171=) c.804T>C (p.Phe268=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.161330967A>T | CA362175165 | GABRB2 | c.993T>A (p.Phe331Leu) n.1075T>A c.*452T>A (n.*452T>A) c.741T>A (p.Phe247Leu) c.243T>A (p.Phe81Leu) c.513T>A (p.Phe171Leu) c.804T>A (p.Phe268Leu) | dbSNP |
| 5 | g.161330967_161330973delinsAAAGAAG | CA1595983847 | GABRB2 | c.987_993delinsCTTCTTT (p.Ile329=) n.1069_1075delinsCTTCTTT c.*446_*452delinsCTTCTTT (n.*446_*452delinsCTTCTTT) c.735_741delinsCTTCTTT (p.Ile245=) c.237_243delinsCTTCTTT (p.Ile79=) c.507_513delinsCTTCTTT (p.Ile169=) c.798_804delinsCTTCTTT (p.Ile266=) | |
| 5 | g.161330968A>C | CA362175168 | GABRB2 | c.992T>G (p.Phe331Cys) n.1074T>G c.*451T>G (n.*451T>G) c.740T>G (p.Phe247Cys) c.242T>G (p.Phe81Cys) c.512T>G (p.Phe171Cys) c.803T>G (p.Phe268Cys) | |
| 5 | g.161330968A>G | CA362175166 | GABRB2 | c.992T>C (p.Phe331Ser) n.1074T>C c.*451T>C (n.*451T>C) c.740T>C (p.Phe247Ser) c.242T>C (p.Phe81Ser) c.512T>C (p.Phe171Ser) c.803T>C (p.Phe268Ser) | ClinVar dbSNP gnomAD v4 |
| 5 | g.161330968A>T | CA362175167 | GABRB2 | c.992T>A (p.Phe331Tyr) n.1074T>A c.*451T>A (n.*451T>A) c.740T>A (p.Phe247Tyr) c.242T>A (p.Phe81Tyr) c.512T>A (p.Phe171Tyr) c.803T>A (p.Phe268Tyr) | |
| 5 | g.161330972_161330974del | CA2695205635 | GABRB2 | c.990_992del (p.Phe331del) n.1072_1074del c.*449_*451del (n.*449_*451del) c.738_740del (p.Phe247del) c.240_242del (p.Phe81del) c.510_512del (p.Phe171del) c.801_803del (p.Phe268del) | |
| 5 | g.161330969_161330974del | CA1595983848 | GABRB2 | c.987_992del (p.Phe330_Phe331del) n.1069_1074del c.*446_*451del (n.*446_*451del) c.735_740del (p.Phe246_Phe247del) c.237_242del (p.Phe80_Phe81del) c.507_512del (p.Phe170_Phe171del) c.798_803del (p.Phe267_Phe268del) | ClinVar dbSNP |
| 5 | g.161330969A>C | CA362175169 | GABRB2 | c.991T>G (p.Phe331Val) n.1073T>G c.*450T>G (n.*450T>G) c.739T>G (p.Phe247Val) c.241T>G (p.Phe81Val) c.511T>G (p.Phe171Val) c.802T>G (p.Phe268Val) | |
| 5 | g.161330969A>G | CA362175170 | GABRB2 | c.991T>C (p.Phe331Leu) n.1073T>C c.*450T>C (n.*450T>C) c.739T>C (p.Phe247Leu) c.241T>C (p.Phe81Leu) c.511T>C (p.Phe171Leu) c.802T>C (p.Phe268Leu) | |
| 5 | g.161330969A>T | CA362175171 | GABRB2 | c.991T>A (p.Phe331Ile) n.1073T>A c.*450T>A (n.*450T>A) c.739T>A (p.Phe247Ile) c.241T>A (p.Phe81Ile) c.511T>A (p.Phe171Ile) c.802T>A (p.Phe268Ile) | |
| 5 | g.161330970G>A | CA447691337 | GABRB2 | c.990C>T (p.Phe330=) n.1072C>T c.*449C>T (n.*449C>T) c.738C>T (p.Phe246=) c.240C>T (p.Phe80=) c.510C>T (p.Phe170=) c.801C>T (p.Phe267=) | |
| 5 | g.161330970G>C | CA362175172 | GABRB2 | c.990C>G (p.Phe330Leu) n.1072C>G c.*449C>G (n.*449C>G) c.738C>G (p.Phe246Leu) c.240C>G (p.Phe80Leu) c.510C>G (p.Phe170Leu) c.801C>G (p.Phe267Leu) | |
| 5 | g.161330970G>T | CA362175173 | GABRB2 | c.990C>A (p.Phe330Leu) n.1072C>A c.*449C>A (n.*449C>A) c.738C>A (p.Phe246Leu) c.240C>A (p.Phe80Leu) c.510C>A (p.Phe170Leu) c.801C>A (p.Phe267Leu) | |
| 5 | g.161330971A>C | CA362175176 | GABRB2 | c.989T>G (p.Phe330Cys) n.1071T>G c.*448T>G (n.*448T>G) c.737T>G (p.Phe246Cys) c.239T>G (p.Phe80Cys) c.509T>G (p.Phe170Cys) c.800T>G (p.Phe267Cys) | |
| 5 | g.161330971A>G | CA362175175 | GABRB2 | c.989T>C (p.Phe330Ser) n.1071T>C c.*448T>C (n.*448T>C) c.737T>C (p.Phe246Ser) c.239T>C (p.Phe80Ser) c.509T>C (p.Phe170Ser) c.800T>C (p.Phe267Ser) | |
| 5 | g.161330971A>T | CA362175174 | GABRB2 | c.989T>A (p.Phe330Tyr) n.1071T>A c.*448T>A (n.*448T>A) c.737T>A (p.Phe246Tyr) c.239T>A (p.Phe80Tyr) c.509T>A (p.Phe170Tyr) c.800T>A (p.Phe267Tyr) | gnomAD v4 |
| 5 | g.161330971_161330972insCACCCAACAC | CA2769169084 | GABRB2 | c.988_989insGTGTTGGGTG (p.Phe330CysfsTer17) n.1070_1071insGTGTTGGGTG c.*447_*448insGTGTTGGGTG (n.*447_*448insGTGTTGGGTG) c.736_737insGTGTTGGGTG (p.Phe246CysfsTer17) c.238_239insGTGTTGGGTG (p.Phe80CysfsTer17) c.508_509insGTGTTGGGTG (p.Phe170CysfsTer17) c.799_800insGTGTTGGGTG (p.Phe267CysfsTer17) | |
| 5 | g.161330972A= | CA1595983849 | GABRB2 | c.988T= (p.Phe330=) n.1070T= c.*447T= (n.*447T=) c.736T= (p.Phe246=) c.238T= (p.Phe80=) c.508T= (p.Phe170=) c.799T= (p.Phe267=) | |
| 5 | g.161330972A>C | CA362175177 | GABRB2 | c.988T>G (p.Phe330Val) n.1070T>G c.*447T>G (n.*447T>G) c.736T>G (p.Phe246Val) c.238T>G (p.Phe80Val) c.508T>G (p.Phe170Val) c.799T>G (p.Phe267Val) | |
| 5 | g.161330972A>G | CA362175179 | GABRB2 | c.988T>C (p.Phe330Leu) n.1070T>C c.*447T>C (n.*447T>C) c.736T>C (p.Phe246Leu) c.238T>C (p.Phe80Leu) c.508T>C (p.Phe170Leu) c.799T>C (p.Phe267Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.161330972A>T | CA362175178 | GABRB2 | c.988T>A (p.Phe330Ile) n.1070T>A c.*447T>A (n.*447T>A) c.736T>A (p.Phe246Ile) c.238T>A (p.Phe80Ile) c.508T>A (p.Phe170Ile) c.799T>A (p.Phe267Ile) | |
| 5 | g.161330972_161330973insAACCACCAAACACACCCAACACA | CA2769169083 | GABRB2 | c.988_989insGTGTTGGGTGTGTTTGGTGGTTT (p.Phe330CysfsTer?) n.1070_1071insGTGTTGGGTGTGTTTGGTGGTTT c.*447_*448insGTGTTGGGTGTGTTTGGTGGTTT (n.*447_*448insGTGTTGGGTGTGTTTGGTGGTTT) c.736_737insGTGTTGGGTGTGTTTGGTGGTTT (p.Phe246CysfsTer?) c.238_239insGTGTTGGGTGTGTTTGGTGGTTT (p.Phe80CysfsTer?) c.508_509insGTGTTGGGTGTGTTTGGTGGTTT (p.Phe170CysfsTer?) c.799_800insGTGTTGGGTGTGTTTGGTGGTTT (p.Phe267CysfsTer?) | |
| 5 | g.161330973G>A | CA447691342 | GABRB2 | c.987C>T (p.Ile329=) n.1069C>T c.*446C>T (n.*446C>T) c.735C>T (p.Ile245=) c.237C>T (p.Ile79=) c.507C>T (p.Ile169=) c.798C>T (p.Ile266=) | |
| 5 | g.161330973G>C | CA362175180 | GABRB2 | c.987C>G (p.Ile329Met) n.1069C>G c.*446C>G (n.*446C>G) c.735C>G (p.Ile245Met) c.237C>G (p.Ile79Met) c.507C>G (p.Ile169Met) c.798C>G (p.Ile266Met) | |
| 5 | g.161330973G>T | CA447691340 | GABRB2 | c.987C>A (p.Ile329=) n.1069C>A c.*446C>A (n.*446C>A) c.735C>A (p.Ile245=) c.237C>A (p.Ile79=) c.507C>A (p.Ile169=) c.798C>A (p.Ile266=) | |
| 5 | g.161330974A= | CA1595983850 | GABRB2 | c.986T= (p.Ile329=) n.1068T= c.*445T= (n.*445T=) c.734T= (p.Ile245=) c.236T= (p.Ile79=) c.506T= (p.Ile169=) c.797T= (p.Ile266=) | |
| 5 | g.161330974A>C | CA362175182 | GABRB2 | c.986T>G (p.Ile329Ser) n.1068T>G c.*445T>G (n.*445T>G) c.734T>G (p.Ile245Ser) c.236T>G (p.Ile79Ser) c.506T>G (p.Ile169Ser) c.797T>G (p.Ile266Ser) | |
| 5 | g.161330974A>G | CA362175181 | GABRB2 | c.986T>C (p.Ile329Thr) n.1068T>C c.*445T>C (n.*445T>C) c.734T>C (p.Ile245Thr) c.236T>C (p.Ile79Thr) c.506T>C (p.Ile169Thr) c.797T>C (p.Ile266Thr) | |
| 5 | g.161330974A>T | CA362175183 | GABRB2 | c.986T>A (p.Ile329Asn) n.1068T>A c.*445T>A (n.*445T>A) c.734T>A (p.Ile245Asn) c.236T>A (p.Ile79Asn) c.506T>A (p.Ile169Asn) c.797T>A (p.Ile266Asn) | ClinVar dbSNP |
| 5 | g.161330975T>A | CA362175184 | GABRB2 | c.985A>T (p.Ile329Phe) n.1067A>T c.*444A>T (n.*444A>T) c.733A>T (p.Ile245Phe) c.235A>T (p.Ile79Phe) c.505A>T (p.Ile169Phe) c.796A>T (p.Ile266Phe) | |
| 5 | g.161330975T>C | CA362175186 | GABRB2 | c.985A>G (p.Ile329Val) n.1067A>G c.*444A>G (n.*444A>G) c.733A>G (p.Ile245Val) c.235A>G (p.Ile79Val) c.505A>G (p.Ile169Val) c.796A>G (p.Ile266Val) | gnomAD v4 |
| 5 | g.161330975T>G | CA362175185 | GABRB2 | c.985A>C (p.Ile329Leu) n.1067A>C c.*444A>C (n.*444A>C) c.733A>C (p.Ile245Leu) c.235A>C (p.Ile79Leu) c.505A>C (p.Ile169Leu) c.796A>C (p.Ile266Leu) | |
| 5 | g.161330976G>A | CA3543454 | GABRB2 | c.984C>T (p.Tyr328=) n.1066C>T c.*443C>T (n.*443C>T) c.732C>T (p.Tyr244=) c.234C>T (p.Tyr78=) c.504C>T (p.Tyr168=) c.795C>T (p.Tyr265=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.161330976G>C | CA362175187 | GABRB2 | c.984C>G (p.Tyr328Ter) n.1066C>G c.*443C>G (n.*443C>G) c.732C>G (p.Tyr244Ter) c.234C>G (p.Tyr78Ter) c.504C>G (p.Tyr168Ter) c.795C>G (p.Tyr265Ter) | |
| 5 | g.161330976G= | CA1595983851 | GABRB2 | c.984C= (p.Tyr328=) n.1066C= c.*443C= (n.*443C=) c.732C= (p.Tyr244=) c.234C= (p.Tyr78=) c.504C= (p.Tyr168=) c.795C= (p.Tyr265=) | |
| 5 | g.161330976G>T | CA362175188 | GABRB2 | c.984C>A (p.Tyr328Ter) n.1066C>A c.*443C>A (n.*443C>A) c.732C>A (p.Tyr244Ter) c.234C>A (p.Tyr78Ter) c.504C>A (p.Tyr168Ter) c.795C>A (p.Tyr265Ter) | |
| 5 | g.161330977T>A | CA362175189 | GABRB2 | c.983A>T (p.Tyr328Phe) n.1065A>T c.*442A>T (n.*442A>T) c.731A>T (p.Tyr244Phe) c.233A>T (p.Tyr78Phe) c.503A>T (p.Tyr168Phe) c.794A>T (p.Tyr265Phe) | COSMIC COSMIC |
| 5 | g.161330977T>C | CA362175190 | GABRB2 | c.983A>G (p.Tyr328Cys) n.1065A>G c.*442A>G (n.*442A>G) c.731A>G (p.Tyr244Cys) c.233A>G (p.Tyr78Cys) c.503A>G (p.Tyr168Cys) c.794A>G (p.Tyr265Cys) | |
| 5 | g.161330977T>G | CA362175191 | GABRB2 | c.983A>C (p.Tyr328Ser) n.1065A>C c.*442A>C (n.*442A>C) c.731A>C (p.Tyr244Ser) c.233A>C (p.Tyr78Ser) c.503A>C (p.Tyr168Ser) c.794A>C (p.Tyr265Ser) | |
| 5 | g.161330978A>C | CA362175192 | GABRB2 | c.982T>G (p.Tyr328Asp) n.1064T>G c.*441T>G (n.*441T>G) c.730T>G (p.Tyr244Asp) c.232T>G (p.Tyr78Asp) c.502T>G (p.Tyr168Asp) c.793T>G (p.Tyr265Asp) | COSMIC COSMIC |
| 5 | g.161330978A>G | CA362175193 | GABRB2 | c.982T>C (p.Tyr328His) n.1064T>C c.*441T>C (n.*441T>C) c.730T>C (p.Tyr244His) c.232T>C (p.Tyr78His) c.502T>C (p.Tyr168His) c.793T>C (p.Tyr265His) | |
| 5 | g.161330978A>T | CA362175194 | GABRB2 | c.982T>A (p.Tyr328Asn) n.1064T>A c.*441T>A (n.*441T>A) c.730T>A (p.Tyr244Asn) c.232T>A (p.Tyr78Asn) c.502T>A (p.Tyr168Asn) c.793T>A (p.Tyr265Asn) | |
| 5 | g.161330979G>A | CA447691356 | GABRB2 | c.981C>T (p.Asn327=) n.1063C>T c.*440C>T (n.*440C>T) c.729C>T (p.Asn243=) c.231C>T (p.Asn77=) c.501C>T (p.Asn167=) c.792C>T (p.Asn264=) | gnomAD v4 |
| 5 | g.161330979G>C | CA362175195 | GABRB2 | c.981C>G (p.Asn327Lys) n.1063C>G c.*440C>G (n.*440C>G) c.729C>G (p.Asn243Lys) c.231C>G (p.Asn77Lys) c.501C>G (p.Asn167Lys) c.792C>G (p.Asn264Lys) | ClinVar dbSNP |
| 5 | g.161330979G>T | CA362175196 | GABRB2 | c.981C>A (p.Asn327Lys) n.1063C>A c.*440C>A (n.*440C>A) c.729C>A (p.Asn243Lys) c.231C>A (p.Asn77Lys) c.501C>A (p.Asn167Lys) c.792C>A (p.Asn264Lys) | ClinVar |
| 5 | g.161330980T>A | CA362175199 | GABRB2 | c.980A>T (p.Asn327Ile) n.1062A>T c.*439A>T (n.*439A>T) c.728A>T (p.Asn243Ile) c.230A>T (p.Asn77Ile) c.500A>T (p.Asn167Ile) c.791A>T (p.Asn264Ile) | |
| 5 | g.161330980T>C | CA362175198 | GABRB2 | c.980A>G (p.Asn327Ser) n.1062A>G c.*439A>G (n.*439A>G) c.728A>G (p.Asn243Ser) c.230A>G (p.Asn77Ser) c.500A>G (p.Asn167Ser) c.791A>G (p.Asn264Ser) | |
| 5 | g.161330980T>G | CA362175197 | GABRB2 | c.980A>C (p.Asn327Thr) n.1062A>C c.*439A>C (n.*439A>C) c.728A>C (p.Asn243Thr) c.230A>C (p.Asn77Thr) c.500A>C (p.Asn167Thr) c.791A>C (p.Asn264Thr) | |
| 5 | g.161330981T>A | CA362175200 | GABRB2 | c.979A>T (p.Asn327Tyr) n.1061A>T c.*438A>T (n.*438A>T) c.727A>T (p.Asn243Tyr) c.229A>T (p.Asn77Tyr) c.499A>T (p.Asn167Tyr) c.790A>T (p.Asn264Tyr) | |
| 5 | g.161330981T>C | CA362175201 | GABRB2 | c.979A>G (p.Asn327Asp) n.1061A>G c.*438A>G (n.*438A>G) c.727A>G (p.Asn243Asp) c.229A>G (p.Asn77Asp) c.499A>G (p.Asn167Asp) c.790A>G (p.Asn264Asp) | |
| 5 | g.161330981T>G | CA362175202 | GABRB2 | c.979A>C (p.Asn327His) n.1061A>C c.*438A>C (n.*438A>C) c.727A>C (p.Asn243His) c.229A>C (p.Asn77His) c.499A>C (p.Asn167His) c.790A>C (p.Asn264His) | |
| 5 | g.161330982G>A | CA447691359 | GABRB2 | c.978C>T (p.Val326=) n.1060C>T c.*437C>T (n.*437C>T) c.726C>T (p.Val242=) c.228C>T (p.Val76=) c.498C>T (p.Val166=) c.789C>T (p.Val263=) | dbSNP |
| 5 | g.161330982G>C | CA447691361 | GABRB2 | c.978C>G (p.Val326=) n.1060C>G c.*437C>G (n.*437C>G) c.726C>G (p.Val242=) c.228C>G (p.Val76=) c.498C>G (p.Val166=) c.789C>G (p.Val263=) | |
| 5 | g.161330982G>T | CA447691363 | GABRB2 | c.978C>A (p.Val326=) n.1060C>A c.*437C>A (n.*437C>A) c.726C>A (p.Val242=) c.228C>A (p.Val76=) c.498C>A (p.Val166=) c.789C>A (p.Val263=) | gnomAD v4 |
| 5 | g.161330983A= | CA1595983852 | GABRB2 | c.977T= (p.Val326=) n.1059T= c.*436T= (n.*436T=) c.725T= (p.Val242=) c.227T= (p.Val76=) c.497T= (p.Val166=) c.788T= (p.Val263=) | |
| 5 | g.161330983A>C | CA362175203 | GABRB2 | c.977T>G (p.Val326Gly) n.1059T>G c.*436T>G (n.*436T>G) c.725T>G (p.Val242Gly) c.227T>G (p.Val76Gly) c.497T>G (p.Val166Gly) c.788T>G (p.Val263Gly) | |
| 5 | g.161330983A>G | CA362175204 | GABRB2 | c.977T>C (p.Val326Ala) n.1059T>C c.*436T>C (n.*436T>C) c.725T>C (p.Val242Ala) c.227T>C (p.Val76Ala) c.497T>C (p.Val166Ala) c.788T>C (p.Val263Ala) | dbSNP |
| 5 | g.161330983A>T | CA362175205 | GABRB2 | c.977T>A (p.Val326Asp) n.1059T>A c.*436T>A (n.*436T>A) c.725T>A (p.Val242Asp) c.227T>A (p.Val76Asp) c.497T>A (p.Val166Asp) c.788T>A (p.Val263Asp) | |
| 5 | g.161330984C>A | CA362175206 | GABRB2 | c.976G>T (p.Val326Phe) n.1058G>T c.*435G>T (n.*435G>T) c.724G>T (p.Val242Phe) c.226G>T (p.Val76Phe) c.496G>T (p.Val166Phe) c.787G>T (p.Val263Phe) | |
| 5 | g.161330984C= | CA1595983853 | GABRB2 | c.976G= (p.Val326=) n.1058G= c.*435G= (n.*435G=) c.724G= (p.Val242=) c.226G= (p.Val76=) c.496G= (p.Val166=) c.787G= (p.Val263=) | |
| 5 | g.161330984C>G | CA362175207 | GABRB2 | c.976G>C (p.Val326Leu) n.1058G>C c.*435G>C (n.*435G>C) c.724G>C (p.Val242Leu) c.226G>C (p.Val76Leu) c.496G>C (p.Val166Leu) c.787G>C (p.Val263Leu) | |
| 5 | g.161330984C>T | CA362175208 | GABRB2 | c.976G>A (p.Val326Ile) n.1058G>A c.*435G>A (n.*435G>A) c.724G>A (p.Val242Ile) c.226G>A (p.Val76Ile) c.496G>A (p.Val166Ile) c.787G>A (p.Val263Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.161330985T>A | CA447691367 | GABRB2 | c.975A>T (p.Leu325=) n.1057A>T c.*434A>T (n.*434A>T) c.723A>T (p.Leu241=) c.225A>T (p.Leu75=) c.495A>T (p.Leu165=) c.786A>T (p.Leu262=) | |
| 5 | g.161330985T>C | CA447691369 | GABRB2 | c.975A>G (p.Leu325=) n.1057A>G c.*434A>G (n.*434A>G) c.723A>G (p.Leu241=) c.225A>G (p.Leu75=) c.495A>G (p.Leu165=) c.786A>G (p.Leu262=) | |
| 5 | g.161330985T>G | CA447691370 | GABRB2 | c.975A>C (p.Leu325=) n.1057A>C c.*434A>C (n.*434A>C) c.723A>C (p.Leu241=) c.225A>C (p.Leu75=) c.495A>C (p.Leu165=) c.786A>C (p.Leu262=) | |
| 5 | g.161330986A>C | CA362175209 | GABRB2 | c.974T>G (p.Leu325Arg) n.1056T>G c.*433T>G (n.*433T>G) c.722T>G (p.Leu241Arg) c.224T>G (p.Leu75Arg) c.494T>G (p.Leu165Arg) c.785T>G (p.Leu262Arg) | |
| 5 | g.161330986A>G | CA362175210 | GABRB2 | c.974T>C (p.Leu325Pro) n.1056T>C c.*433T>C (n.*433T>C) c.722T>C (p.Leu241Pro) c.224T>C (p.Leu75Pro) c.494T>C (p.Leu165Pro) c.785T>C (p.Leu262Pro) | COSMIC COSMIC |
| 5 | g.161330986A>T | CA362175211 | GABRB2 | c.974T>A (p.Leu325Gln) n.1056T>A c.*433T>A (n.*433T>A) c.722T>A (p.Leu241Gln) c.224T>A (p.Leu75Gln) c.494T>A (p.Leu165Gln) c.785T>A (p.Leu262Gln) | |
| 5 | g.161330987G>A | CA447691374 | GABRB2 | c.973C>T (p.Leu325=) n.1055C>T c.*432C>T (n.*432C>T) c.721C>T (p.Leu241=) c.223C>T (p.Leu75=) c.493C>T (p.Leu165=) c.784C>T (p.Leu262=) | |
| 5 | g.161330987G>C | CA362175212 | GABRB2 | c.973C>G (p.Leu325Val) n.1055C>G c.*432C>G (n.*432C>G) c.721C>G (p.Leu241Val) c.223C>G (p.Leu75Val) c.493C>G (p.Leu165Val) c.784C>G (p.Leu262Val) | |
| 5 | g.161330987G>T | CA362175213 | GABRB2 | c.973C>A (p.Leu325Ile) n.1055C>A c.*432C>A (n.*432C>A) c.721C>A (p.Leu241Ile) c.223C>A (p.Leu75Ile) c.493C>A (p.Leu165Ile) c.784C>A (p.Leu262Ile) | |
| 5 | g.161330988G>A | CA447691375 | GABRB2 | c.972C>T (p.Ala324=) n.1054C>T c.*431C>T (n.*431C>T) c.720C>T (p.Ala240=) c.222C>T (p.Ala74=) c.492C>T (p.Ala164=) c.783C>T (p.Ala261=) | |
| 5 | g.161330988G>C | CA447691376 | GABRB2 | c.972C>G (p.Ala324=) n.1054C>G c.*431C>G (n.*431C>G) c.720C>G (p.Ala240=) c.222C>G (p.Ala74=) c.492C>G (p.Ala164=) c.783C>G (p.Ala261=) | |
| 5 | g.161330988G>T | CA447691378 | GABRB2 | c.972C>A (p.Ala324=) n.1054C>A c.*431C>A (n.*431C>A) c.720C>A (p.Ala240=) c.222C>A (p.Ala74=) c.492C>A (p.Ala164=) c.783C>A (p.Ala261=) | COSMIC COSMIC |
| 5 | g.161330989G>A | CA362175214 | GABRB2 | c.971C>T (p.Ala324Val) n.1053C>T c.*430C>T (n.*430C>T) c.719C>T (p.Ala240Val) c.221C>T (p.Ala74Val) c.491C>T (p.Ala164Val) c.782C>T (p.Ala261Val) | |
| 5 | g.161330989G>C | CA362175215 | GABRB2 | c.971C>G (p.Ala324Gly) n.1053C>G c.*430C>G (n.*430C>G) c.719C>G (p.Ala240Gly) c.221C>G (p.Ala74Gly) c.491C>G (p.Ala164Gly) c.782C>G (p.Ala261Gly) | |
| 5 | g.161330989G>T | CA362175216 | GABRB2 | c.971C>A (p.Ala324Asp) n.1053C>A c.*430C>A (n.*430C>A) c.719C>A (p.Ala240Asp) c.221C>A (p.Ala74Asp) c.491C>A (p.Ala164Asp) c.782C>A (p.Ala261Asp) | |
| 5 | g.161330990C>A | CA362175217 | GABRB2 | c.970G>T (p.Ala324Ser) n.1052G>T c.*429G>T (n.*429G>T) c.718G>T (p.Ala240Ser) c.220G>T (p.Ala74Ser) c.490G>T (p.Ala164Ser) c.781G>T (p.Ala261Ser) | |
| 5 | g.161330990C>G | CA362175218 | GABRB2 | c.970G>C (p.Ala324Pro) n.1052G>C c.*429G>C (n.*429G>C) c.718G>C (p.Ala240Pro) c.220G>C (p.Ala74Pro) c.490G>C (p.Ala164Pro) c.781G>C (p.Ala261Pro) | |
| 5 | g.161330990C>T | CA362175219 | GABRB2 | c.970G>A (p.Ala324Thr) n.1052G>A c.*429G>A (n.*429G>A) c.718G>A (p.Ala240Thr) c.220G>A (p.Ala74Thr) c.490G>A (p.Ala164Thr) c.781G>A (p.Ala261Thr) | |
| 5 | g.161330991A>C | CA362175220 | GABRB2 | c.969T>G (p.Tyr323Ter) n.1051T>G c.*428T>G (n.*428T>G) c.717T>G (p.Tyr239Ter) c.219T>G (p.Tyr73Ter) c.489T>G (p.Tyr163Ter) c.780T>G (p.Tyr260Ter) | |
| 5 | g.161330991A>G | CA447691385 | GABRB2 | c.969T>C (p.Tyr323=) n.1051T>C c.*428T>C (n.*428T>C) c.717T>C (p.Tyr239=) c.219T>C (p.Tyr73=) c.489T>C (p.Tyr163=) c.780T>C (p.Tyr260=) | |
| 5 | g.161330991A>T | CA362175221 | GABRB2 | c.969T>A (p.Tyr323Ter) n.1051T>A c.*428T>A (n.*428T>A) c.717T>A (p.Tyr239Ter) c.219T>A (p.Tyr73Ter) c.489T>A (p.Tyr163Ter) c.780T>A (p.Tyr260Ter) | |
| 5 | g.161330992T>A | CA362175222 | GABRB2 | c.968A>T (p.Tyr323Phe) n.1050A>T c.*427A>T (n.*427A>T) c.716A>T (p.Tyr239Phe) c.218A>T (p.Tyr73Phe) c.488A>T (p.Tyr163Phe) c.779A>T (p.Tyr260Phe) | ClinVar dbSNP |
| 5 | g.161330992T>C | CA362175223 | GABRB2 | c.968A>G (p.Tyr323Cys) n.1050A>G c.*427A>G (n.*427A>G) c.716A>G (p.Tyr239Cys) c.218A>G (p.Tyr73Cys) c.488A>G (p.Tyr163Cys) c.779A>G (p.Tyr260Cys) | |
| 5 | g.161330992T>G | CA362175224 | GABRB2 | c.968A>C (p.Tyr323Ser) n.1050A>C c.*427A>C (n.*427A>C) c.716A>C (p.Tyr239Ser) c.218A>C (p.Tyr73Ser) c.488A>C (p.Tyr163Ser) c.779A>C (p.Tyr260Ser) | |
| 5 | g.161330993A>C | CA362175225 | GABRB2 | c.967T>G (p.Tyr323Asp) n.1049T>G c.*426T>G (n.*426T>G) c.715T>G (p.Tyr239Asp) c.217T>G (p.Tyr73Asp) c.487T>G (p.Tyr163Asp) c.778T>G (p.Tyr260Asp) | |
| 5 | g.161330993A>G | CA362175226 | GABRB2 | c.967T>C (p.Tyr323His) n.1049T>C c.*426T>C (n.*426T>C) c.715T>C (p.Tyr239His) c.217T>C (p.Tyr73His) c.487T>C (p.Tyr163His) c.778T>C (p.Tyr260His) | |
| 5 | g.161330993A>T | CA362175227 | GABRB2 | c.967T>A (p.Tyr323Asn) n.1049T>A c.*426T>A (n.*426T>A) c.715T>A (p.Tyr239Asn) c.217T>A (p.Tyr73Asn) c.487T>A (p.Tyr163Asn) c.778T>A (p.Tyr260Asn) | |
| 5 | g.161330994T>A | CA362175228 | GABRB2 | c.966A>T (p.Glu322Asp) n.1048A>T c.*425A>T (n.*425A>T) c.714A>T (p.Glu238Asp) c.216A>T (p.Glu72Asp) c.486A>T (p.Glu162Asp) c.777A>T (p.Glu259Asp) | |
| 5 | g.161330994T>C | CA447691392 | GABRB2 | c.966A>G (p.Glu322=) n.1048A>G c.*425A>G (n.*425A>G) c.714A>G (p.Glu238=) c.216A>G (p.Glu72=) c.486A>G (p.Glu162=) c.777A>G (p.Glu259=) | |
| 5 | g.161330994T>G | CA362175229 | GABRB2 | c.966A>C (p.Glu322Asp) n.1048A>C c.*425A>C (n.*425A>C) c.714A>C (p.Glu238Asp) c.216A>C (p.Glu72Asp) c.486A>C (p.Glu162Asp) c.777A>C (p.Glu259Asp) | |
| 5 | g.161330995T>A | CA362175230 | GABRB2 | c.965A>T (p.Glu322Val) n.1047A>T c.*424A>T (n.*424A>T) c.713A>T (p.Glu238Val) c.215A>T (p.Glu72Val) c.485A>T (p.Glu162Val) c.776A>T (p.Glu259Val) | |
| 5 | g.161330995T>C | CA362175231 | GABRB2 | c.965A>G (p.Glu322Gly) n.1047A>G c.*424A>G (n.*424A>G) c.713A>G (p.Glu238Gly) c.215A>G (p.Glu72Gly) c.485A>G (p.Glu162Gly) c.776A>G (p.Glu259Gly) | |
| 5 | g.161330995T>G | CA362175232 | GABRB2 | c.965A>C (p.Glu322Ala) n.1047A>C c.*424A>C (n.*424A>C) c.713A>C (p.Glu238Ala) c.215A>C (p.Glu72Ala) c.485A>C (p.Glu162Ala) c.776A>C (p.Glu259Ala) | |
| 5 | g.161330996C>A | CA362175233 | GABRB2 | c.964G>T (p.Glu322Ter) n.1046G>T c.*423G>T (n.*423G>T) c.712G>T (p.Glu238Ter) c.214G>T (p.Glu72Ter) c.484G>T (p.Glu162Ter) c.775G>T (p.Glu259Ter) | COSMIC COSMIC |
| 5 | g.161330996C>G | CA362175234 | GABRB2 | c.964G>C (p.Glu322Gln) n.1046G>C c.*423G>C (n.*423G>C) c.712G>C (p.Glu238Gln) c.214G>C (p.Glu72Gln) c.484G>C (p.Glu162Gln) c.775G>C (p.Glu259Gln) | |
| 5 | g.161330996C>T | CA362175235 | GABRB2 | c.964G>A (p.Glu322Lys) n.1046G>A c.*423G>A (n.*423G>A) c.712G>A (p.Glu238Lys) c.214G>A (p.Glu72Lys) c.484G>A (p.Glu162Lys) c.775G>A (p.Glu259Lys) | COSMIC COSMIC |
| 5 | g.161330997C>A | CA447691398 | GABRB2 | c.963G>T (p.Leu321=) n.1045G>T c.*422G>T (n.*422G>T) c.711G>T (p.Leu237=) c.213G>T (p.Leu71=) c.483G>T (p.Leu161=) c.774G>T (p.Leu258=) | |
| 5 | g.161330997C>G | CA447691397 | GABRB2 | c.963G>C (p.Leu321=) n.1045G>C c.*422G>C (n.*422G>C) c.711G>C (p.Leu237=) c.213G>C (p.Leu71=) c.483G>C (p.Leu161=) c.774G>C (p.Leu258=) | |
| 5 | g.161330997C>T | CA447691395 | GABRB2 | c.963G>A (p.Leu321=) n.1045G>A c.*422G>A (n.*422G>A) c.711G>A (p.Leu237=) c.213G>A (p.Leu71=) c.483G>A (p.Leu161=) c.774G>A (p.Leu258=) | |
| 5 | g.161330998A>C | CA362175236 | GABRB2 | c.962T>G (p.Leu321Arg) n.1044T>G c.*421T>G (n.*421T>G) c.710T>G (p.Leu237Arg) c.212T>G (p.Leu71Arg) c.482T>G (p.Leu161Arg) c.773T>G (p.Leu258Arg) | |
| 5 | g.161330998A>G | CA362175237 | GABRB2 | c.962T>C (p.Leu321Pro) n.1044T>C c.*421T>C (n.*421T>C) c.710T>C (p.Leu237Pro) c.212T>C (p.Leu71Pro) c.482T>C (p.Leu161Pro) c.773T>C (p.Leu258Pro) | |
| 5 | g.161330998A>T | CA362175238 | GABRB2 | c.962T>A (p.Leu321Gln) n.1044T>A c.*421T>A (n.*421T>A) c.710T>A (p.Leu237Gln) c.212T>A (p.Leu71Gln) c.482T>A (p.Leu161Gln) c.773T>A (p.Leu258Gln) | |
| 5 | g.161330999G>A | CA447691401 | GABRB2 | c.961C>T (p.Leu321=) n.1043C>T c.*420C>T (n.*420C>T) c.709C>T (p.Leu237=) c.211C>T (p.Leu71=) c.481C>T (p.Leu161=) c.772C>T (p.Leu258=) | ClinVar |
| 5 | g.161330999G>C | CA362175239 | GABRB2 | c.961C>G (p.Leu321Val) n.1043C>G c.*420C>G (n.*420C>G) c.709C>G (p.Leu237Val) c.211C>G (p.Leu71Val) c.481C>G (p.Leu161Val) c.772C>G (p.Leu258Val) | |
| 5 | g.161330999G>T | CA362175240 | GABRB2 | c.961C>A (p.Leu321Met) n.1043C>A c.*420C>A (n.*420C>A) c.709C>A (p.Leu237Met) c.211C>A (p.Leu71Met) c.481C>A (p.Leu161Met) c.772C>A (p.Leu258Met) | |
| 5 | g.161331000A>C | CA447691402 | GABRB2 | c.960T>G (p.Leu320=) n.1042T>G c.*419T>G (n.*419T>G) c.708T>G (p.Leu236=) c.210T>G (p.Leu70=) c.480T>G (p.Leu160=) c.771T>G (p.Leu257=) | |
| 5 | g.161331000A>G | CA447691408 | GABRB2 | c.960T>C (p.Leu320=) n.1042T>C c.*419T>C (n.*419T>C) c.708T>C (p.Leu236=) c.210T>C (p.Leu70=) c.480T>C (p.Leu160=) c.771T>C (p.Leu257=) | |
| 5 | g.161331000A>T | CA447691411 | GABRB2 | c.960T>A (p.Leu320=) n.1042T>A c.*419T>A (n.*419T>A) c.708T>A (p.Leu236=) c.210T>A (p.Leu70=) c.480T>A (p.Leu160=) c.771T>A (p.Leu257=) | |
| 5 | g.161331001A>C | CA362175243 | GABRB2 | c.959T>G (p.Leu320Arg) n.1041T>G c.*418T>G (n.*418T>G) c.707T>G (p.Leu236Arg) c.209T>G (p.Leu70Arg) c.479T>G (p.Leu160Arg) c.770T>G (p.Leu257Arg) | |
| 5 | g.161331001A>G | CA362175242 | GABRB2 | c.959T>C (p.Leu320Pro) n.1041T>C c.*418T>C (n.*418T>C) c.707T>C (p.Leu236Pro) c.209T>C (p.Leu70Pro) c.479T>C (p.Leu160Pro) c.770T>C (p.Leu257Pro) | |
| 5 | g.161331001A>T | CA362175241 | GABRB2 | c.959T>A (p.Leu320His) n.1041T>A c.*418T>A (n.*418T>A) c.707T>A (p.Leu236His) c.209T>A (p.Leu70His) c.479T>A (p.Leu160His) c.770T>A (p.Leu257His) | |
| 5 | g.161331002G>A | CA362175244 | GABRB2 | c.958C>T (p.Leu320Phe) n.1040C>T c.*417C>T (n.*417C>T) c.706C>T (p.Leu236Phe) c.208C>T (p.Leu70Phe) c.478C>T (p.Leu160Phe) c.769C>T (p.Leu257Phe) | |
| 5 | g.161331002G>C | CA362175245 | GABRB2 | c.958C>G (p.Leu320Val) n.1040C>G c.*417C>G (n.*417C>G) c.706C>G (p.Leu236Val) c.208C>G (p.Leu70Val) c.478C>G (p.Leu160Val) c.769C>G (p.Leu257Val) | |
| 5 | g.161331002G>T | CA362175246 | GABRB2 | c.958C>A (p.Leu320Ile) n.1040C>A c.*417C>A (n.*417C>A) c.706C>A (p.Leu236Ile) c.208C>A (p.Leu70Ile) c.478C>A (p.Leu160Ile) c.769C>A (p.Leu257Ile) | COSMIC COSMIC |
| 5 | g.161331003G>A | CA447691416 | GABRB2 | c.957C>T (p.Ala319=) n.1039C>T c.*416C>T (n.*416C>T) c.705C>T (p.Ala235=) c.207C>T (p.Ala69=) c.477C>T (p.Ala159=) c.768C>T (p.Ala256=) | |
| 5 | g.161331003G>C | CA3543455 | GABRB2 | c.957C>G (p.Ala319=) n.1039C>G c.*416C>G (n.*416C>G) c.705C>G (p.Ala235=) c.207C>G (p.Ala69=) c.477C>G (p.Ala159=) c.768C>G (p.Ala256=) | dbSNP ExAC gnomAD v2 |
| 5 | g.161331003G= | CA1595983854 | GABRB2 | c.957C= (p.Ala319=) n.1039C= c.*416C= (n.*416C=) c.705C= (p.Ala235=) c.207C= (p.Ala69=) c.477C= (p.Ala159=) c.768C= (p.Ala256=) | |
| 5 | g.161331003G>T | CA447691417 | GABRB2 | c.957C>A (p.Ala319=) n.1039C>A c.*416C>A (n.*416C>A) c.705C>A (p.Ala235=) c.207C>A (p.Ala69=) c.477C>A (p.Ala159=) c.768C>A (p.Ala256=) |