Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.161331025_161331035del | CA2676314816 | GABRB2 | c.927_937del (p.Met310CysfsTer?) n.1009_1019del c.*386_*396del (n.*386_*396del) c.675_685del (p.Met226CysfsTer?) c.177_187del (p.Met60CysfsTer?) c.447_457del (p.Met150CysfsTer?) c.738_748del (p.Met247CysfsTer?) | gnomAD v4 |
5 | g.161331028C>A | CA362175306 | GABRB2 | c.932G>T (p.Gly311Val) n.1014G>T c.*391G>T (n.*391G>T) c.680G>T (p.Gly227Val) c.182G>T (p.Gly61Val) c.452G>T (p.Gly151Val) c.743G>T (p.Gly248Val) | |
5 | g.161331028C>G | CA362175308 | GABRB2 | c.932G>C (p.Gly311Ala) n.1014G>C c.*391G>C (n.*391G>C) c.680G>C (p.Gly227Ala) c.182G>C (p.Gly61Ala) c.452G>C (p.Gly151Ala) c.743G>C (p.Gly248Ala) | |
5 | g.161331028C>T | CA362175307 | GABRB2 | c.932G>A (p.Gly311Glu) n.1014G>A c.*391G>A (n.*391G>A) c.680G>A (p.Gly227Glu) c.182G>A (p.Gly61Glu) c.452G>A (p.Gly151Glu) c.743G>A (p.Gly248Glu) | gnomAD v4 COSMIC COSMIC |
5 | g.161331029C>A | CA362175309 | GABRB2 | c.931G>T (p.Gly311Trp) n.1013G>T c.*390G>T (n.*390G>T) c.679G>T (p.Gly227Trp) c.181G>T (p.Gly61Trp) c.451G>T (p.Gly151Trp) c.742G>T (p.Gly248Trp) | |
5 | g.161331029C>G | CA362175310 | GABRB2 | c.931G>C (p.Gly311Arg) n.1013G>C c.*390G>C (n.*390G>C) c.679G>C (p.Gly227Arg) c.181G>C (p.Gly61Arg) c.451G>C (p.Gly151Arg) c.742G>C (p.Gly248Arg) | dbSNP |
5 | g.161331029C>T | CA362175311 | GABRB2 | c.931G>A (p.Gly311Arg) n.1013G>A c.*390G>A (n.*390G>A) c.679G>A (p.Gly227Arg) c.181G>A (p.Gly61Arg) c.451G>A (p.Gly151Arg) c.742G>A (p.Gly248Arg) | |
5 | g.161331029_161331030insAAACACACCCAACA | CA2769169091 | GABRB2 | c.930_931insTGTTGGGTGTGTTT (p.Gly311CysfsTer20) n.1012_1013insTGTTGGGTGTGTTT c.*389_*390insTGTTGGGTGTGTTT (n.*389_*390insTGTTGGGTGTGTTT) c.678_679insTGTTGGGTGTGTTT (p.Gly227CysfsTer20) c.180_181insTGTTGGGTGTGTTT (p.Gly61CysfsTer20) c.450_451insTGTTGGGTGTGTTT (p.Gly151CysfsTer20) c.741_742insTGTTGGGTGTGTTT (p.Gly248CysfsTer20) | |
5 | g.161331030C>A | CA362175312 | GABRB2 | c.930G>T (p.Met310Ile) n.1012G>T c.*389G>T (n.*389G>T) c.678G>T (p.Met226Ile) c.180G>T (p.Met60Ile) c.450G>T (p.Met150Ile) c.741G>T (p.Met247Ile) | |
5 | g.161331030C= | CA1595983861 | GABRB2 | c.930G= (p.Met310=) n.1012G= c.*389G= (n.*389G=) c.678G= (p.Met226=) c.180G= (p.Met60=) c.450G= (p.Met150=) c.741G= (p.Met247=) | |
5 | g.161331030C>G | CA362175313 | GABRB2 | c.930G>C (p.Met310Ile) n.1012G>C c.*389G>C (n.*389G>C) c.678G>C (p.Met226Ile) c.180G>C (p.Met60Ile) c.450G>C (p.Met150Ile) c.741G>C (p.Met247Ile) | |
5 | g.161331030C>T | CA362175314 | GABRB2 | c.930G>A (p.Met310Ile) n.1012G>A c.*389G>A (n.*389G>A) c.678G>A (p.Met226Ile) c.180G>A (p.Met60Ile) c.450G>A (p.Met150Ile) c.741G>A (p.Met247Ile) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.161331031A>C | CA362175315 | GABRB2 | c.929T>G (p.Met310Arg) n.1011T>G c.*388T>G (n.*388T>G) c.677T>G (p.Met226Arg) c.179T>G (p.Met60Arg) c.449T>G (p.Met150Arg) c.740T>G (p.Met247Arg) | |
5 | g.161331031A>G | CA362175316 | GABRB2 | c.929T>C (p.Met310Thr) n.1011T>C c.*388T>C (n.*388T>C) c.677T>C (p.Met226Thr) c.179T>C (p.Met60Thr) c.449T>C (p.Met150Thr) c.740T>C (p.Met247Thr) | ClinVar |
5 | g.161331031A>T | CA362175317 | GABRB2 | c.929T>A (p.Met310Lys) n.1011T>A c.*388T>A (n.*388T>A) c.677T>A (p.Met226Lys) c.179T>A (p.Met60Lys) c.449T>A (p.Met150Lys) c.740T>A (p.Met247Lys) | |
5 | g.161331032T>A | CA362175318 | GABRB2 | c.928A>T (p.Met310Leu) n.1010A>T c.*387A>T (n.*387A>T) c.676A>T (p.Met226Leu) c.178A>T (p.Met60Leu) c.448A>T (p.Met150Leu) c.739A>T (p.Met247Leu) | |
5 | g.161331032T>C | CA362175319 | GABRB2 | c.928A>G (p.Met310Val) n.1010A>G c.*387A>G (n.*387A>G) c.676A>G (p.Met226Val) c.178A>G (p.Met60Val) c.448A>G (p.Met150Val) c.739A>G (p.Met247Val) | |
5 | g.161331032T>G | CA362175320 | GABRB2 | c.928A>C (p.Met310Leu) n.1010A>C c.*387A>C (n.*387A>C) c.676A>C (p.Met226Leu) c.178A>C (p.Met60Leu) c.448A>C (p.Met150Leu) c.739A>C (p.Met247Leu) | |
5 | g.161331033C>A | CA447691461 | GABRB2 | c.927G>T (p.Leu309=) n.1009G>T c.*386G>T (n.*386G>T) c.675G>T (p.Leu225=) c.177G>T (p.Leu59=) c.447G>T (p.Leu149=) c.738G>T (p.Leu246=) | |
5 | g.161331033C>G | CA447691462 | GABRB2 | c.927G>C (p.Leu309=) n.1009G>C c.*386G>C (n.*386G>C) c.675G>C (p.Leu225=) c.177G>C (p.Leu59=) c.447G>C (p.Leu149=) c.738G>C (p.Leu246=) | |
5 | g.161331033C>T | CA447691463 | GABRB2 | c.927G>A (p.Leu309=) n.1009G>A c.*386G>A (n.*386G>A) c.675G>A (p.Leu225=) c.177G>A (p.Leu59=) c.447G>A (p.Leu149=) c.738G>A (p.Leu246=) | |
5 | g.161331034A>C | CA362175323 | GABRB2 | c.926T>G (p.Leu309Arg) n.1008T>G c.*385T>G (n.*385T>G) c.674T>G (p.Leu225Arg) c.176T>G (p.Leu59Arg) c.446T>G (p.Leu149Arg) c.737T>G (p.Leu246Arg) | |
5 | g.161331034A>G | CA362175321 | GABRB2 | c.926T>C (p.Leu309Pro) n.1008T>C c.*385T>C (n.*385T>C) c.674T>C (p.Leu225Pro) c.176T>C (p.Leu59Pro) c.446T>C (p.Leu149Pro) c.737T>C (p.Leu246Pro) | ClinVar |
5 | g.161331034A>T | CA362175322 | GABRB2 | c.926T>A (p.Leu309Gln) n.1008T>A c.*385T>A (n.*385T>A) c.674T>A (p.Leu225Gln) c.176T>A (p.Leu59Gln) c.446T>A (p.Leu149Gln) c.737T>A (p.Leu246Gln) | |
5 | g.161331035G>A | CA447691468 | GABRB2 | c.925C>T (p.Leu309=) n.1007C>T c.*384C>T (n.*384C>T) c.673C>T (p.Leu225=) c.175C>T (p.Leu59=) c.445C>T (p.Leu149=) c.736C>T (p.Leu246=) | gnomAD v4 |
5 | g.161331035G>C | CA362175324 | GABRB2 | c.925C>G (p.Leu309Val) n.1007C>G c.*384C>G (n.*384C>G) c.673C>G (p.Leu225Val) c.175C>G (p.Leu59Val) c.445C>G (p.Leu149Val) c.736C>G (p.Leu246Val) | |
5 | g.161331035G= | CA1595983862 | GABRB2 | c.925C= (p.Leu309=) n.1007C= c.*384C= (n.*384C=) c.673C= (p.Leu225=) c.175C= (p.Leu59=) c.445C= (p.Leu149=) c.736C= (p.Leu246=) | |
5 | g.161331035G>T | CA3543457 | GABRB2 | c.925C>A (p.Leu309Met) n.1007C>A c.*384C>A (n.*384C>A) c.673C>A (p.Leu225Met) c.175C>A (p.Leu59Met) c.445C>A (p.Leu149Met) c.736C>A (p.Leu246Met) | dbSNP ExAC gnomAD v2 |
5 | g.161331036G>A | CA447691469 | GABRB2 | c.924C>T (p.Tyr308=) n.1006C>T c.*383C>T (n.*383C>T) c.672C>T (p.Tyr224=) c.174C>T (p.Tyr58=) c.444C>T (p.Tyr148=) c.735C>T (p.Tyr245=) | |
5 | g.161331036G>C | CA362175325 | GABRB2 | c.924C>G (p.Tyr308Ter) n.1006C>G c.*383C>G (n.*383C>G) c.672C>G (p.Tyr224Ter) c.174C>G (p.Tyr58Ter) c.444C>G (p.Tyr148Ter) c.735C>G (p.Tyr245Ter) | |
5 | g.161331036G>T | CA362175326 | GABRB2 | c.924C>A (p.Tyr308Ter) n.1006C>A c.*383C>A (n.*383C>A) c.672C>A (p.Tyr224Ter) c.174C>A (p.Tyr58Ter) c.444C>A (p.Tyr148Ter) c.735C>A (p.Tyr245Ter) | |
5 | g.161331037T>A | CA362175327 | GABRB2 | c.923A>T (p.Tyr308Phe) n.1005A>T c.*382A>T (n.*382A>T) c.671A>T (p.Tyr224Phe) c.173A>T (p.Tyr58Phe) c.443A>T (p.Tyr148Phe) c.734A>T (p.Tyr245Phe) | gnomAD v4 |
5 | g.161331037T>C | CA362175328 | GABRB2 | c.923A>G (p.Tyr308Cys) n.1005A>G c.*382A>G (n.*382A>G) c.671A>G (p.Tyr224Cys) c.173A>G (p.Tyr58Cys) c.443A>G (p.Tyr148Cys) c.734A>G (p.Tyr245Cys) | |
5 | g.161331037T>G | CA362175329 | GABRB2 | c.923A>C (p.Tyr308Ser) n.1005A>C c.*382A>C (n.*382A>C) c.671A>C (p.Tyr224Ser) c.173A>C (p.Tyr58Ser) c.443A>C (p.Tyr148Ser) c.734A>C (p.Tyr245Ser) | |
5 | g.161331038A>C | CA362175330 | GABRB2 | c.922T>G (p.Tyr308Asp) n.1004T>G c.*381T>G (n.*381T>G) c.670T>G (p.Tyr224Asp) c.172T>G (p.Tyr58Asp) c.442T>G (p.Tyr148Asp) c.733T>G (p.Tyr245Asp) | |
5 | g.161331038A>G | CA362175331 | GABRB2 | c.922T>C (p.Tyr308His) n.1004T>C c.*381T>C (n.*381T>C) c.670T>C (p.Tyr224His) c.172T>C (p.Tyr58His) c.442T>C (p.Tyr148His) c.733T>C (p.Tyr245His) | |
5 | g.161331038A>T | CA362175332 | GABRB2 | c.922T>A (p.Tyr308Asn) n.1004T>A c.*381T>A (n.*381T>A) c.670T>A (p.Tyr224Asn) c.172T>A (p.Tyr58Asn) c.442T>A (p.Tyr148Asn) c.733T>A (p.Tyr245Asn) | |
5 | g.161331039C>A | CA362175335 | GABRB2 | c.921G>T (p.Met307Ile) n.1003G>T c.*380G>T (n.*380G>T) c.669G>T (p.Met223Ile) c.171G>T (p.Met57Ile) c.441G>T (p.Met147Ile) c.732G>T (p.Met244Ile) | |
5 | g.161331039C>G | CA362175334 | GABRB2 | c.921G>C (p.Met307Ile) n.1003G>C c.*380G>C (n.*380G>C) c.669G>C (p.Met223Ile) c.171G>C (p.Met57Ile) c.441G>C (p.Met147Ile) c.732G>C (p.Met244Ile) | |
5 | g.161331039C>T | CA362175333 | GABRB2 | c.921G>A (p.Met307Ile) n.1003G>A c.*380G>A (n.*380G>A) c.669G>A (p.Met223Ile) c.171G>A (p.Met57Ile) c.441G>A (p.Met147Ile) c.732G>A (p.Met244Ile) | |
5 | g.161331040A>C | CA362175336 | GABRB2 | c.920T>G (p.Met307Arg) n.1002T>G c.*379T>G (n.*379T>G) c.668T>G (p.Met223Arg) c.170T>G (p.Met57Arg) c.440T>G (p.Met147Arg) c.731T>G (p.Met244Arg) | ClinVar |
5 | g.161331040A>G | CA362175337 | GABRB2 | c.920T>C (p.Met307Thr) n.1002T>C c.*379T>C (n.*379T>C) c.668T>C (p.Met223Thr) c.170T>C (p.Met57Thr) c.440T>C (p.Met147Thr) c.731T>C (p.Met244Thr) | gnomAD v4 |
5 | g.161331040A>T | CA362175338 | GABRB2 | c.920T>A (p.Met307Lys) n.1002T>A c.*379T>A (n.*379T>A) c.668T>A (p.Met223Lys) c.170T>A (p.Met57Lys) c.440T>A (p.Met147Lys) c.731T>A (p.Met244Lys) | |
5 | g.161331041T>A | CA362175339 | GABRB2 | c.919A>T (p.Met307Leu) n.1001A>T c.*378A>T (n.*378A>T) c.667A>T (p.Met223Leu) c.169A>T (p.Met57Leu) c.439A>T (p.Met147Leu) c.730A>T (p.Met244Leu) | gnomAD v4 |
5 | g.161331041T>C | CA362175340 | GABRB2 | c.919A>G (p.Met307Val) n.1001A>G c.*378A>G (n.*378A>G) c.667A>G (p.Met223Val) c.169A>G (p.Met57Val) c.439A>G (p.Met147Val) c.730A>G (p.Met244Val) | |
5 | g.161331041T>G | CA362175341 | GABRB2 | c.919A>C (p.Met307Leu) n.1001A>C c.*378A>C (n.*378A>C) c.667A>C (p.Met223Leu) c.169A>C (p.Met57Leu) c.439A>C (p.Met147Leu) c.730A>C (p.Met244Leu) | |
5 | g.161331042G>A | CA447691479 | GABRB2 | c.918C>T (p.Asp306=) n.1000C>T c.*377C>T (n.*377C>T) c.666C>T (p.Asp222=) c.168C>T (p.Asp56=) c.438C>T (p.Asp146=) c.729C>T (p.Asp243=) | |
5 | g.161331042G>C | CA362175342 | GABRB2 | c.918C>G (p.Asp306Glu) n.1000C>G c.*377C>G (n.*377C>G) c.666C>G (p.Asp222Glu) c.168C>G (p.Asp56Glu) c.438C>G (p.Asp146Glu) c.729C>G (p.Asp243Glu) | |
5 | g.161331042G>T | CA362175343 | GABRB2 | c.918C>A (p.Asp306Glu) n.1000C>A c.*377C>A (n.*377C>A) c.666C>A (p.Asp222Glu) c.168C>A (p.Asp56Glu) c.438C>A (p.Asp146Glu) c.729C>A (p.Asp243Glu) | |
5 | g.161331043T>A | CA362175344 | GABRB2 | c.917A>T (p.Asp306Val) n.999A>T c.*376A>T (n.*376A>T) c.665A>T (p.Asp222Val) c.167A>T (p.Asp56Val) c.437A>T (p.Asp146Val) c.728A>T (p.Asp243Val) | |
5 | g.161331043T>C | CA362175345 | GABRB2 | c.917A>G (p.Asp306Gly) n.999A>G c.*376A>G (n.*376A>G) c.665A>G (p.Asp222Gly) c.167A>G (p.Asp56Gly) c.437A>G (p.Asp146Gly) c.728A>G (p.Asp243Gly) | |
5 | g.161331043T>G | CA362175346 | GABRB2 | c.917A>C (p.Asp306Ala) n.999A>C c.*376A>C (n.*376A>C) c.665A>C (p.Asp222Ala) c.167A>C (p.Asp56Ala) c.437A>C (p.Asp146Ala) c.728A>C (p.Asp243Ala) | |
5 | g.161331044C>A | CA362175349 | GABRB2 | c.916G>T (p.Asp306Tyr) n.998G>T c.*375G>T (n.*375G>T) c.664G>T (p.Asp222Tyr) c.166G>T (p.Asp56Tyr) c.436G>T (p.Asp146Tyr) c.727G>T (p.Asp243Tyr) | COSMIC COSMIC |
5 | g.161331044C>G | CA362175348 | GABRB2 | c.916G>C (p.Asp306His) n.998G>C c.*375G>C (n.*375G>C) c.664G>C (p.Asp222His) c.166G>C (p.Asp56His) c.436G>C (p.Asp146His) c.727G>C (p.Asp243His) | |
5 | g.161331044C>T | CA362175347 | GABRB2 | c.916G>A (p.Asp306Asn) n.998G>A c.*375G>A (n.*375G>A) c.664G>A (p.Asp222Asn) c.166G>A (p.Asp56Asn) c.436G>A (p.Asp146Asn) c.727G>A (p.Asp243Asn) | COSMIC COSMIC |
5 | g.161331045A>C | CA362175350 | GABRB2 | c.915T>G (p.Ile305Met) n.997T>G c.*374T>G (n.*374T>G) c.663T>G (p.Ile221Met) c.165T>G (p.Ile55Met) c.435T>G (p.Ile145Met) c.726T>G (p.Ile242Met) | |
5 | g.161331045A>G | CA447691484 | GABRB2 | c.915T>C (p.Ile305=) n.997T>C c.*374T>C (n.*374T>C) c.663T>C (p.Ile221=) c.165T>C (p.Ile55=) c.435T>C (p.Ile145=) c.726T>C (p.Ile242=) | |
5 | g.161331045A>T | CA447691485 | GABRB2 | c.915T>A (p.Ile305=) n.997T>A c.*374T>A (n.*374T>A) c.663T>A (p.Ile221=) c.165T>A (p.Ile55=) c.435T>A (p.Ile145=) c.726T>A (p.Ile242=) | |
5 | g.161331046A= | CA1595983863 | GABRB2 | c.914T= (p.Ile305=) n.996T= c.*373T= (n.*373T=) c.662T= (p.Ile221=) c.164T= (p.Ile55=) c.434T= (p.Ile145=) c.725T= (p.Ile242=) | |
5 | g.161331046A>C | CA362175351 | GABRB2 | c.914T>G (p.Ile305Ser) n.996T>G c.*373T>G (n.*373T>G) c.662T>G (p.Ile221Ser) c.164T>G (p.Ile55Ser) c.434T>G (p.Ile145Ser) c.725T>G (p.Ile242Ser) | |
5 | g.161331046A>G | CA362175352 | GABRB2 | c.914T>C (p.Ile305Thr) n.996T>C c.*373T>C (n.*373T>C) c.662T>C (p.Ile221Thr) c.164T>C (p.Ile55Thr) c.434T>C (p.Ile145Thr) c.725T>C (p.Ile242Thr) | ClinVar dbSNP |
5 | g.161331046A>T | CA362175353 | GABRB2 | c.914T>A (p.Ile305Asn) n.996T>A c.*373T>A (n.*373T>A) c.662T>A (p.Ile221Asn) c.164T>A (p.Ile55Asn) c.434T>A (p.Ile145Asn) c.725T>A (p.Ile242Asn) | |
5 | g.161331047T>A | CA362175354 | GABRB2 | c.913A>T (p.Ile305Phe) n.995A>T c.*372A>T (n.*372A>T) c.661A>T (p.Ile221Phe) c.163A>T (p.Ile55Phe) c.433A>T (p.Ile145Phe) c.724A>T (p.Ile242Phe) | |
5 | g.161331047T>C | CA362175355 | GABRB2 | c.913A>G (p.Ile305Val) n.995A>G c.*372A>G (n.*372A>G) c.661A>G (p.Ile221Val) c.163A>G (p.Ile55Val) c.433A>G (p.Ile145Val) c.724A>G (p.Ile242Val) | |
5 | g.161331047T>G | CA362175356 | GABRB2 | c.913A>C (p.Ile305Leu) n.995A>C c.*372A>C (n.*372A>C) c.661A>C (p.Ile221Leu) c.163A>C (p.Ile55Leu) c.433A>C (p.Ile145Leu) c.724A>C (p.Ile242Leu) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.161331047T= | CA1595983864 | GABRB2 | c.913A= (p.Ile305=) n.995A= c.*372A= (n.*372A=) c.661A= (p.Ile221=) c.163A= (p.Ile55=) c.433A= (p.Ile145=) c.724A= (p.Ile242=) | |
5 | g.161331048G>A | CA447691491 | GABRB2 | c.912C>T (p.Ala304=) n.994C>T c.*371C>T (n.*371C>T) c.660C>T (p.Ala220=) c.162C>T (p.Ala54=) c.432C>T (p.Ala144=) c.723C>T (p.Ala241=) | dbSNP |
5 | g.161331048G>C | CA447691492 | GABRB2 | c.912C>G (p.Ala304=) n.994C>G c.*371C>G (n.*371C>G) c.660C>G (p.Ala220=) c.162C>G (p.Ala54=) c.432C>G (p.Ala144=) c.723C>G (p.Ala241=) | |
5 | g.161331048G= | CA1595983865 | GABRB2 | c.912C= (p.Ala304=) n.994C= c.*371C= (n.*371C=) c.660C= (p.Ala220=) c.162C= (p.Ala54=) c.432C= (p.Ala144=) c.723C= (p.Ala241=) | |
5 | g.161331048G>T | CA447691495 | GABRB2 | c.912C>A (p.Ala304=) n.994C>A c.*371C>A (n.*371C>A) c.660C>A (p.Ala220=) c.162C>A (p.Ala54=) c.432C>A (p.Ala144=) c.723C>A (p.Ala241=) | |
5 | g.161331049G>A | CA362175357 | GABRB2 | c.911C>T (p.Ala304Val) n.993C>T c.*370C>T (n.*370C>T) c.659C>T (p.Ala220Val) c.161C>T (p.Ala54Val) c.431C>T (p.Ala144Val) c.722C>T (p.Ala241Val) | ClinVar dbSNP |
5 | g.161331049G>C | CA362175358 | GABRB2 | c.911C>G (p.Ala304Gly) n.993C>G c.*370C>G (n.*370C>G) c.659C>G (p.Ala220Gly) c.161C>G (p.Ala54Gly) c.431C>G (p.Ala144Gly) c.722C>G (p.Ala241Gly) | |
5 | g.161331049G= | CA1595983866 | GABRB2 | c.911C= (p.Ala304=) n.993C= c.*370C= (n.*370C=) c.659C= (p.Ala220=) c.161C= (p.Ala54=) c.431C= (p.Ala144=) c.722C= (p.Ala241=) | |
5 | g.161331049G>T | CA362175359 | GABRB2 | c.911C>A (p.Ala304Asp) n.993C>A c.*370C>A (n.*370C>A) c.659C>A (p.Ala220Asp) c.161C>A (p.Ala54Asp) c.431C>A (p.Ala144Asp) c.722C>A (p.Ala241Asp) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.161331050C>A | CA362175360 | GABRB2 | c.910G>T (p.Ala304Ser) n.992G>T c.*369G>T (n.*369G>T) c.658G>T (p.Ala220Ser) c.160G>T (p.Ala54Ser) c.430G>T (p.Ala144Ser) c.721G>T (p.Ala241Ser) | |
5 | g.161331050C= | CA1595983867 | GABRB2 | c.910G= (p.Ala304=) n.992G= c.*369G= (n.*369G=) c.658G= (p.Ala220=) c.160G= (p.Ala54=) c.430G= (p.Ala144=) c.721G= (p.Ala241=) | |
5 | g.161331050C>G | CA362175361 | GABRB2 | c.910G>C (p.Ala304Pro) n.992G>C c.*369G>C (n.*369G>C) c.658G>C (p.Ala220Pro) c.160G>C (p.Ala54Pro) c.430G>C (p.Ala144Pro) c.721G>C (p.Ala241Pro) | |
5 | g.161331050C>T | CA362175362 | GABRB2 | c.910G>A (p.Ala304Thr) n.992G>A c.*369G>A (n.*369G>A) c.658G>A (p.Ala220Thr) c.160G>A (p.Ala54Thr) c.430G>A (p.Ala144Thr) c.721G>A (p.Ala241Thr) | ClinVar dbSNP |
5 | g.161331051C>A | CA10588395 | GABRB2 | c.909G>T (p.Lys303Asn) n.991G>T c.*368G>T (n.*368G>T) c.657G>T (p.Lys219Asn) c.159G>T (p.Lys53Asn) c.429G>T (p.Lys143Asn) c.720G>T (p.Lys240Asn) | ClinVar dbSNP |
5 | g.161331051C= | CA1595983868 | GABRB2 | c.909G= (p.Lys303=) n.991G= c.*368G= (n.*368G=) c.657G= (p.Lys219=) c.159G= (p.Lys53=) c.429G= (p.Lys143=) c.720G= (p.Lys240=) | |
5 | g.161331051C>G | CA362175363 | GABRB2 | c.909G>C (p.Lys303Asn) n.991G>C c.*368G>C (n.*368G>C) c.657G>C (p.Lys219Asn) c.159G>C (p.Lys53Asn) c.429G>C (p.Lys143Asn) c.720G>C (p.Lys240Asn) | |
5 | g.161331051C>T | CA447691499 | GABRB2 | c.909G>A (p.Lys303=) n.991G>A c.*368G>A (n.*368G>A) c.657G>A (p.Lys219=) c.159G>A (p.Lys53=) c.429G>A (p.Lys143=) c.720G>A (p.Lys240=) | ClinVar dbSNP |
5 | g.161331052T>A | CA362175364 | GABRB2 | c.908A>T (p.Lys303Met) n.990A>T c.*367A>T (n.*367A>T) c.656A>T (p.Lys219Met) c.158A>T (p.Lys53Met) c.428A>T (p.Lys143Met) c.719A>T (p.Lys240Met) | |
5 | g.161331052T>C | CA362175365 | GABRB2 | c.908A>G (p.Lys303Arg) n.990A>G c.*367A>G (n.*367A>G) c.656A>G (p.Lys219Arg) c.158A>G (p.Lys53Arg) c.428A>G (p.Lys143Arg) c.719A>G (p.Lys240Arg) | ClinVar dbSNP |
5 | g.161331052T>G | CA362175366 | GABRB2 | c.908A>C (p.Lys303Thr) n.990A>C c.*367A>C (n.*367A>C) c.656A>C (p.Lys219Thr) c.158A>C (p.Lys53Thr) c.428A>C (p.Lys143Thr) c.719A>C (p.Lys240Thr) | ClinVar dbSNP |
5 | g.161331052T= | CA1595983869 | GABRB2 | c.908A= (p.Lys303=) n.990A= c.*367A= (n.*367A=) c.656A= (p.Lys219=) c.158A= (p.Lys53=) c.428A= (p.Lys143=) c.719A= (p.Lys240=) | |
5 | g.161331053T>A | CA362175367 | GABRB2 | c.907A>T (p.Lys303Ter) n.989A>T c.*366A>T (n.*366A>T) c.655A>T (p.Lys219Ter) c.157A>T (p.Lys53Ter) c.427A>T (p.Lys143Ter) c.718A>T (p.Lys240Ter) | |
5 | g.161331053T>C | CA362175368 | GABRB2 | c.907A>G (p.Lys303Glu) n.989A>G c.*366A>G (n.*366A>G) c.655A>G (p.Lys219Glu) c.157A>G (p.Lys53Glu) c.427A>G (p.Lys143Glu) c.718A>G (p.Lys240Glu) | ClinVar |
5 | g.161331053T>G | CA362175369 | GABRB2 | c.907A>C (p.Lys303Gln) n.989A>C c.*366A>C (n.*366A>C) c.655A>C (p.Lys219Gln) c.157A>C (p.Lys53Gln) c.427A>C (p.Lys143Gln) c.718A>C (p.Lys240Gln) | |
5 | g.161331054C>A | CA447691502 | GABRB2 | c.906G>T (p.Val302=) n.988G>T c.*365G>T (n.*365G>T) c.654G>T (p.Val218=) c.156G>T (p.Val52=) c.426G>T (p.Val142=) c.717G>T (p.Val239=) | |
5 | g.161331054C>G | CA447691503 | GABRB2 | c.906G>C (p.Val302=) n.988G>C c.*365G>C (n.*365G>C) c.654G>C (p.Val218=) c.156G>C (p.Val52=) c.426G>C (p.Val142=) c.717G>C (p.Val239=) | |
5 | g.161331054C>T | CA447691504 | GABRB2 | c.906G>A (p.Val302=) n.988G>A c.*365G>A (n.*365G>A) c.654G>A (p.Val218=) c.156G>A (p.Val52=) c.426G>A (p.Val142=) c.717G>A (p.Val239=) | |
5 | g.161331055A>C | CA362175372 | GABRB2 | c.905T>G (p.Val302Gly) n.987T>G c.*364T>G (n.*364T>G) c.653T>G (p.Val218Gly) c.155T>G (p.Val52Gly) c.425T>G (p.Val142Gly) c.716T>G (p.Val239Gly) | |
5 | g.161331055A>G | CA362175370 | GABRB2 | c.905T>C (p.Val302Ala) n.987T>C c.*364T>C (n.*364T>C) c.653T>C (p.Val218Ala) c.155T>C (p.Val52Ala) c.425T>C (p.Val142Ala) c.716T>C (p.Val239Ala) | |
5 | g.161331055A>T | CA362175371 | GABRB2 | c.905T>A (p.Val302Glu) n.987T>A c.*364T>A (n.*364T>A) c.653T>A (p.Val218Glu) c.155T>A (p.Val52Glu) c.425T>A (p.Val142Glu) c.716T>A (p.Val239Glu) | |
5 | g.161331056C>A | CA362175373 | GABRB2 | c.904G>T (p.Val302Leu) n.986G>T c.*363G>T (n.*363G>T) c.652G>T (p.Val218Leu) c.154G>T (p.Val52Leu) c.424G>T (p.Val142Leu) c.715G>T (p.Val239Leu) | |
5 | g.161331056C= | CA1595983870 | GABRB2 | c.904G= (p.Val302=) n.986G= c.*363G= (n.*363G=) c.652G= (p.Val218=) c.154G= (p.Val52=) c.424G= (p.Val142=) c.715G= (p.Val239=) | |
5 | g.161331056C>G | CA362175374 | GABRB2 | c.904G>C (p.Val302Leu) n.986G>C c.*363G>C (n.*363G>C) c.652G>C (p.Val218Leu) c.154G>C (p.Val52Leu) c.424G>C (p.Val142Leu) c.715G>C (p.Val239Leu) | |
5 | g.161331056C>T | CA362175375 | GABRB2 | c.904G>A (p.Val302Met) n.986G>A c.*363G>A (n.*363G>A) c.652G>A (p.Val218Met) c.154G>A (p.Val52Met) c.424G>A (p.Val142Met) c.715G>A (p.Val239Met) | ClinVar dbSNP |
5 | g.161331057A= | CA1595983871 | GABRB2 | c.903T= (p.Tyr301=) n.985T= c.*362T= (n.*362T=) c.651T= (p.Tyr217=) c.153T= (p.Tyr51=) c.423T= (p.Tyr141=) c.714T= (p.Tyr238=) | |
5 | g.161331057A>C | CA362175376 | GABRB2 | c.903T>G (p.Tyr301Ter) n.985T>G c.*362T>G (n.*362T>G) c.651T>G (p.Tyr217Ter) c.153T>G (p.Tyr51Ter) c.423T>G (p.Tyr141Ter) c.714T>G (p.Tyr238Ter) | |
5 | g.161331057A>G | CA447691511 | GABRB2 | c.903T>C (p.Tyr301=) n.985T>C c.*362T>C (n.*362T>C) c.651T>C (p.Tyr217=) c.153T>C (p.Tyr51=) c.423T>C (p.Tyr141=) c.714T>C (p.Tyr238=) | ClinVar dbSNP gnomAD v4 |
5 | g.161331057A>T | CA362175377 | GABRB2 | c.903T>A (p.Tyr301Ter) n.985T>A c.*362T>A (n.*362T>A) c.651T>A (p.Tyr217Ter) c.153T>A (p.Tyr51Ter) c.423T>A (p.Tyr141Ter) c.714T>A (p.Tyr238Ter) | |
5 | g.161331058T>A | CA362175379 | GABRB2 | c.902A>T (p.Tyr301Phe) n.984A>T c.*361A>T (n.*361A>T) c.650A>T (p.Tyr217Phe) c.152A>T (p.Tyr51Phe) c.422A>T (p.Tyr141Phe) c.713A>T (p.Tyr238Phe) | ClinVar dbSNP |
5 | g.161331058T>C | CA16618148 | GABRB2 | c.902A>G (p.Tyr301Cys) n.984A>G c.*361A>G (n.*361A>G) c.650A>G (p.Tyr217Cys) c.152A>G (p.Tyr51Cys) c.422A>G (p.Tyr141Cys) c.713A>G (p.Tyr238Cys) | ClinVar dbSNP |
5 | g.161331058T>G | CA362175378 | GABRB2 | c.902A>C (p.Tyr301Ser) n.984A>C c.*361A>C (n.*361A>C) c.650A>C (p.Tyr217Ser) c.152A>C (p.Tyr51Ser) c.422A>C (p.Tyr141Ser) c.713A>C (p.Tyr238Ser) | |
5 | g.161331058T= | CA1595983872 | GABRB2 | c.902A= (p.Tyr301=) n.984A= c.*361A= (n.*361A=) c.650A= (p.Tyr217=) c.152A= (p.Tyr51=) c.422A= (p.Tyr141=) c.713A= (p.Tyr238=) | |
5 | g.161331059A>C | CA362175380 | GABRB2 | c.901T>G (p.Tyr301Asp) n.983T>G c.*360T>G (n.*360T>G) c.649T>G (p.Tyr217Asp) c.151T>G (p.Tyr51Asp) c.421T>G (p.Tyr141Asp) c.712T>G (p.Tyr238Asp) | |
5 | g.161331059A>G | CA362175381 | GABRB2 | c.901T>C (p.Tyr301His) n.983T>C c.*360T>C (n.*360T>C) c.649T>C (p.Tyr217His) c.151T>C (p.Tyr51His) c.421T>C (p.Tyr141His) c.712T>C (p.Tyr238His) | ClinVar dbSNP |
5 | g.161331059A>T | CA362175382 | GABRB2 | c.901T>A (p.Tyr301Asn) n.983T>A c.*360T>A (n.*360T>A) c.649T>A (p.Tyr217Asn) c.151T>A (p.Tyr51Asn) c.421T>A (p.Tyr141Asn) c.712T>A (p.Tyr238Asn) | |
5 | g.161331060G>A | CA447691513 | GABRB2 | c.900C>T (p.Pro300=) n.982C>T c.*359C>T (n.*359C>T) c.648C>T (p.Pro216=) c.150C>T (p.Pro50=) c.420C>T (p.Pro140=) c.711C>T (p.Pro237=) | |
5 | g.161331060G>C | CA447691514 | GABRB2 | c.900C>G (p.Pro300=) n.982C>G c.*359C>G (n.*359C>G) c.648C>G (p.Pro216=) c.150C>G (p.Pro50=) c.420C>G (p.Pro140=) c.711C>G (p.Pro237=) | dbSNP |
5 | g.161331060G= | CA1595983873 | GABRB2 | c.900C= (p.Pro300=) n.982C= c.*359C= (n.*359C=) c.648C= (p.Pro216=) c.150C= (p.Pro50=) c.420C= (p.Pro140=) c.711C= (p.Pro237=) | |
5 | g.161331060G>T | CA447691515 | GABRB2 | c.900C>A (p.Pro300=) n.982C>A c.*359C>A (n.*359C>A) c.648C>A (p.Pro216=) c.150C>A (p.Pro50=) c.420C>A (p.Pro140=) c.711C>A (p.Pro237=) | |
5 | g.161331061G>A | CA362175383 | GABRB2 | c.899C>T (p.Pro300Leu) n.981C>T c.*358C>T (n.*358C>T) c.647C>T (p.Pro216Leu) c.149C>T (p.Pro50Leu) c.419C>T (p.Pro140Leu) c.710C>T (p.Pro237Leu) | ClinVar dbSNP |
5 | g.161331061G>C | CA362175384 | GABRB2 | c.899C>G (p.Pro300Arg) n.981C>G c.*358C>G (n.*358C>G) c.647C>G (p.Pro216Arg) c.149C>G (p.Pro50Arg) c.419C>G (p.Pro140Arg) c.710C>G (p.Pro237Arg) | COSMIC COSMIC |
5 | g.161331061G= | CA1595983874 | GABRB2 | c.899C= (p.Pro300=) n.981C= c.*358C= (n.*358C=) c.647C= (p.Pro216=) c.149C= (p.Pro50=) c.419C= (p.Pro140=) c.710C= (p.Pro237=) | |
5 | g.161331061G>T | CA362175385 | GABRB2 | c.899C>A (p.Pro300His) n.981C>A c.*358C>A (n.*358C>A) c.647C>A (p.Pro216His) c.149C>A (p.Pro50His) c.419C>A (p.Pro140His) c.710C>A (p.Pro237His) | |
5 | g.161331062G>A | CA362175386 | GABRB2 | c.898C>T (p.Pro300Ser) n.980C>T c.*357C>T (n.*357C>T) c.646C>T (p.Pro216Ser) c.148C>T (p.Pro50Ser) c.418C>T (p.Pro140Ser) c.709C>T (p.Pro237Ser) | |
5 | g.161331062G>C | CA362175387 | GABRB2 | c.898C>G (p.Pro300Ala) n.980C>G c.*357C>G (n.*357C>G) c.646C>G (p.Pro216Ala) c.148C>G (p.Pro50Ala) c.418C>G (p.Pro140Ala) c.709C>G (p.Pro237Ala) | |
5 | g.161331062G>T | CA362175388 | GABRB2 | c.898C>A (p.Pro300Thr) n.980C>A c.*357C>A (n.*357C>A) c.646C>A (p.Pro216Thr) c.148C>A (p.Pro50Thr) c.418C>A (p.Pro140Thr) c.709C>A (p.Pro237Thr) | |
5 | g.161331063G>A | CA447691519 | GABRB2 | c.897C>T (p.Ile299=) n.979C>T c.*356C>T (n.*356C>T) c.645C>T (p.Ile215=) c.147C>T (p.Ile49=) c.417C>T (p.Ile139=) c.708C>T (p.Ile236=) | |
5 | g.161331063G>C | CA362175389 | GABRB2 | c.897C>G (p.Ile299Met) n.979C>G c.*356C>G (n.*356C>G) c.645C>G (p.Ile215Met) c.147C>G (p.Ile49Met) c.417C>G (p.Ile139Met) c.708C>G (p.Ile236Met) | |
5 | g.161331063G= | CA1595983875 | GABRB2 | c.897C= (p.Ile299=) n.979C= c.*356C= (n.*356C=) c.645C= (p.Ile215=) c.147C= (p.Ile49=) c.417C= (p.Ile139=) c.708C= (p.Ile236=) | |
5 | g.161331063G>T | CA447691521 | GABRB2 | c.897C>A (p.Ile299=) n.979C>A c.*356C>A (n.*356C>A) c.645C>A (p.Ile215=) c.147C>A (p.Ile49=) c.417C>A (p.Ile139=) c.708C>A (p.Ile236=) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.161331064A= | CA1595983876 | GABRB2 | c.896T= (p.Ile299=) n.978T= c.*355T= (n.*355T=) c.644T= (p.Ile215=) c.146T= (p.Ile49=) c.416T= (p.Ile139=) c.707T= (p.Ile236=) | |
5 | g.161331064A>C | CA16618149 | GABRB2 | c.896T>G (p.Ile299Ser) n.978T>G c.*355T>G (n.*355T>G) c.644T>G (p.Ile215Ser) c.146T>G (p.Ile49Ser) c.416T>G (p.Ile139Ser) c.707T>G (p.Ile236Ser) | ClinVar dbSNP |
5 | g.161331064A>G | CA362175390 | GABRB2 | c.896T>C (p.Ile299Thr) n.978T>C c.*355T>C (n.*355T>C) c.644T>C (p.Ile215Thr) c.146T>C (p.Ile49Thr) c.416T>C (p.Ile139Thr) c.707T>C (p.Ile236Thr) | |
5 | g.161331064A>T | CA362175391 | GABRB2 | c.896T>A (p.Ile299Asn) n.978T>A c.*355T>A (n.*355T>A) c.644T>A (p.Ile215Asn) c.146T>A (p.Ile49Asn) c.416T>A (p.Ile139Asn) c.707T>A (p.Ile236Asn) | |
5 | g.161331065T>A | CA362175392 | GABRB2 | c.895A>T (p.Ile299Phe) n.977A>T c.*354A>T (n.*354A>T) c.643A>T (p.Ile215Phe) c.145A>T (p.Ile49Phe) c.415A>T (p.Ile139Phe) c.706A>T (p.Ile236Phe) | ClinVar dbSNP |
5 | g.161331065T>C | CA362175394 | GABRB2 | c.895A>G (p.Ile299Val) n.977A>G c.*354A>G (n.*354A>G) c.643A>G (p.Ile215Val) c.145A>G (p.Ile49Val) c.415A>G (p.Ile139Val) c.706A>G (p.Ile236Val) | ClinVar dbSNP |
5 | g.161331065T>G | CA362175393 | GABRB2 | c.895A>C (p.Ile299Leu) n.977A>C c.*354A>C (n.*354A>C) c.643A>C (p.Ile215Leu) c.145A>C (p.Ile49Leu) c.415A>C (p.Ile139Leu) c.706A>C (p.Ile236Leu) | |
5 | g.161331065T= | CA1595983877 | GABRB2 | c.895A= (p.Ile299=) n.977A= c.*354A= (n.*354A=) c.643A= (p.Ile215=) c.145A= (p.Ile49=) c.415A= (p.Ile139=) c.706A= (p.Ile236=) | |
5 | g.161331066T>A | CA362175395 | GABRB2 | c.894A>T (p.Lys298Asn) n.976A>T c.*353A>T (n.*353A>T) c.642A>T (p.Lys214Asn) c.144A>T (p.Lys48Asn) c.414A>T (p.Lys138Asn) c.705A>T (p.Lys235Asn) | |
5 | g.161331066T>C | CA447691527 | GABRB2 | c.894A>G (p.Lys298=) n.976A>G c.*353A>G (n.*353A>G) c.642A>G (p.Lys214=) c.144A>G (p.Lys48=) c.414A>G (p.Lys138=) c.705A>G (p.Lys235=) | |
5 | g.161331066T>G | CA362175396 | GABRB2 | c.894A>C (p.Lys298Asn) n.976A>C c.*353A>C (n.*353A>C) c.642A>C (p.Lys214Asn) c.144A>C (p.Lys48Asn) c.414A>C (p.Lys138Asn) c.705A>C (p.Lys235Asn) | |
5 | g.161331067T>A | CA362175397 | GABRB2 | c.893A>T (p.Lys298Ile) n.975A>T c.*352A>T (n.*352A>T) c.641A>T (p.Lys214Ile) c.143A>T (p.Lys48Ile) c.413A>T (p.Lys138Ile) c.704A>T (p.Lys235Ile) | |
5 | g.161331067T>C | CA362175398 | GABRB2 | c.893A>G (p.Lys298Arg) n.975A>G c.*352A>G (n.*352A>G) c.641A>G (p.Lys214Arg) c.143A>G (p.Lys48Arg) c.413A>G (p.Lys138Arg) c.704A>G (p.Lys235Arg) | |
5 | g.161331067T>G | CA362175399 | GABRB2 | c.893A>C (p.Lys298Thr) n.975A>C c.*352A>C (n.*352A>C) c.641A>C (p.Lys214Thr) c.143A>C (p.Lys48Thr) c.413A>C (p.Lys138Thr) c.704A>C (p.Lys235Thr) | |
5 | g.161331068T>A | CA362175400 | GABRB2 | c.892A>T (p.Lys298Ter) n.974A>T c.*351A>T (n.*351A>T) c.640A>T (p.Lys214Ter) c.142A>T (p.Lys48Ter) c.412A>T (p.Lys138Ter) c.703A>T (p.Lys235Ter) | |
5 | g.161331068T>C | CA362175401 | GABRB2 | c.892A>G (p.Lys298Glu) n.974A>G c.*351A>G (n.*351A>G) c.640A>G (p.Lys214Glu) c.142A>G (p.Lys48Glu) c.412A>G (p.Lys138Glu) c.703A>G (p.Lys235Glu) | |
5 | g.161331068T>G | CA362175402 | GABRB2 | c.892A>C (p.Lys298Gln) n.974A>C c.*351A>C (n.*351A>C) c.640A>C (p.Lys214Gln) c.142A>C (p.Lys48Gln) c.412A>C (p.Lys138Gln) c.703A>C (p.Lys235Gln) | |
5 | g.161331069A>C | CA447691533 | GABRB2 | c.891T>G (p.Pro297=) n.973T>G c.*350T>G (n.*350T>G) c.639T>G (p.Pro213=) c.141T>G (p.Pro47=) c.411T>G (p.Pro137=) c.702T>G (p.Pro234=) | |
5 | g.161331069A>G | CA447691534 | GABRB2 | c.891T>C (p.Pro297=) n.973T>C c.*350T>C (n.*350T>C) c.639T>C (p.Pro213=) c.141T>C (p.Pro47=) c.411T>C (p.Pro137=) c.702T>C (p.Pro234=) | |
5 | g.161331069A>T | CA447691535 | GABRB2 | c.891T>A (p.Pro297=) n.973T>A c.*350T>A (n.*350T>A) c.639T>A (p.Pro213=) c.141T>A (p.Pro47=) c.411T>A (p.Pro137=) c.702T>A (p.Pro234=) | |
5 | g.161331070G>A | CA362175403 | GABRB2 | c.890C>T (p.Pro297Leu) n.972C>T c.*349C>T (n.*349C>T) c.638C>T (p.Pro213Leu) c.140C>T (p.Pro47Leu) c.410C>T (p.Pro137Leu) c.701C>T (p.Pro234Leu) | |
5 | g.161331070G>C | CA362175404 | GABRB2 | c.890C>G (p.Pro297Arg) n.972C>G c.*349C>G (n.*349C>G) c.638C>G (p.Pro213Arg) c.140C>G (p.Pro47Arg) c.410C>G (p.Pro137Arg) c.701C>G (p.Pro234Arg) | |
5 | g.161331070G>T | CA362175405 | GABRB2 | c.890C>A (p.Pro297His) n.972C>A c.*349C>A (n.*349C>A) c.638C>A (p.Pro213His) c.140C>A (p.Pro47His) c.410C>A (p.Pro137His) c.701C>A (p.Pro234His) | |
5 | g.161331071G>A | CA362175408 | GABRB2 | c.889C>T (p.Pro297Ser) n.971C>T c.*348C>T (n.*348C>T) c.637C>T (p.Pro213Ser) c.139C>T (p.Pro47Ser) c.409C>T (p.Pro137Ser) c.700C>T (p.Pro234Ser) | |
5 | g.161331071G>C | CA362175407 | GABRB2 | c.889C>G (p.Pro297Ala) n.971C>G c.*348C>G (n.*348C>G) c.637C>G (p.Pro213Ala) c.139C>G (p.Pro47Ala) c.409C>G (p.Pro137Ala) c.700C>G (p.Pro234Ala) | |
5 | g.161331071G>T | CA362175406 | GABRB2 | c.889C>A (p.Pro297Thr) n.971C>A c.*348C>A (n.*348C>A) c.637C>A (p.Pro213Thr) c.139C>A (p.Pro47Thr) c.409C>A (p.Pro137Thr) c.700C>A (p.Pro234Thr) | |
5 | g.161331072G>A | CA447691541 | GABRB2 | c.888C>T (p.Leu296=) n.970C>T c.*347C>T (n.*347C>T) c.636C>T (p.Leu212=) c.138C>T (p.Leu46=) c.408C>T (p.Leu136=) c.699C>T (p.Leu233=) | |
5 | g.161331072G>C | CA447691542 | GABRB2 | c.888C>G (p.Leu296=) n.970C>G c.*347C>G (n.*347C>G) c.636C>G (p.Leu212=) c.138C>G (p.Leu46=) c.408C>G (p.Leu136=) c.699C>G (p.Leu233=) | |
5 | g.161331072G>T | CA447691543 | GABRB2 | c.888C>A (p.Leu296=) n.970C>A c.*347C>A (n.*347C>A) c.636C>A (p.Leu212=) c.138C>A (p.Leu46=) c.408C>A (p.Leu136=) c.699C>A (p.Leu233=) | |
5 | g.161331073A>C | CA362175409 | GABRB2 | c.887T>G (p.Leu296Arg) n.969T>G c.*346T>G (n.*346T>G) c.635T>G (p.Leu212Arg) c.137T>G (p.Leu46Arg) c.407T>G (p.Leu136Arg) c.698T>G (p.Leu233Arg) | |
5 | g.161331073A>G | CA362175410 | GABRB2 | c.887T>C (p.Leu296Pro) n.969T>C c.*346T>C (n.*346T>C) c.635T>C (p.Leu212Pro) c.137T>C (p.Leu46Pro) c.407T>C (p.Leu136Pro) c.698T>C (p.Leu233Pro) | |
5 | g.161331073A>T | CA362175411 | GABRB2 | c.887T>A (p.Leu296His) n.969T>A c.*346T>A (n.*346T>A) c.635T>A (p.Leu212His) c.137T>A (p.Leu46His) c.407T>A (p.Leu136His) c.698T>A (p.Leu233His) | |
5 | g.161331074G>A | CA362175412 | GABRB2 | c.886C>T (p.Leu296Phe) n.968C>T c.*345C>T (n.*345C>T) c.634C>T (p.Leu212Phe) c.136C>T (p.Leu46Phe) c.406C>T (p.Leu136Phe) c.697C>T (p.Leu233Phe) | |
5 | g.161331074G>C | CA362175413 | GABRB2 | c.886C>G (p.Leu296Val) n.968C>G c.*345C>G (n.*345C>G) c.634C>G (p.Leu212Val) c.136C>G (p.Leu46Val) c.406C>G (p.Leu136Val) c.697C>G (p.Leu233Val) | |
5 | g.161331074G>T | CA362175414 | GABRB2 | c.886C>A (p.Leu296Ile) n.968C>A c.*345C>A (n.*345C>A) c.634C>A (p.Leu212Ile) c.136C>A (p.Leu46Ile) c.406C>A (p.Leu136Ile) c.697C>A (p.Leu233Ile) | |
5 | g.161331075A= | CA1595983878 | GABRB2 | c.885T= (p.Thr295=) n.967T= c.*344T= (n.*344T=) c.633T= (p.Thr211=) c.135T= (p.Thr45=) c.405T= (p.Thr135=) c.696T= (p.Thr232=) | |
5 | g.161331075A>C | CA447691548 | GABRB2 | c.885T>G (p.Thr295=) n.967T>G c.*344T>G (n.*344T>G) c.633T>G (p.Thr211=) c.135T>G (p.Thr45=) c.405T>G (p.Thr135=) c.696T>G (p.Thr232=) | |
5 | g.161331075A>G | CA3543458 | GABRB2 | c.885T>C (p.Thr295=) n.967T>C c.*344T>C (n.*344T>C) c.633T>C (p.Thr211=) c.135T>C (p.Thr45=) c.405T>C (p.Thr135=) c.696T>C (p.Thr232=) | dbSNP ExAC gnomAD v2 |
5 | g.161331075A>T | CA447691553 | GABRB2 | c.885T>A (p.Thr295=) n.967T>A c.*344T>A (n.*344T>A) c.633T>A (p.Thr211=) c.135T>A (p.Thr45=) c.405T>A (p.Thr135=) c.696T>A (p.Thr232=) | |
5 | g.161331076G>A | CA362175415 | GABRB2 | c.884C>T (p.Thr295Ile) n.966C>T c.*343C>T (n.*343C>T) c.632C>T (p.Thr211Ile) c.134C>T (p.Thr45Ile) c.404C>T (p.Thr135Ile) c.695C>T (p.Thr232Ile) | |
5 | g.161331076G>C | CA362175416 | GABRB2 | c.884C>G (p.Thr295Ser) n.966C>G c.*343C>G (n.*343C>G) c.632C>G (p.Thr211Ser) c.134C>G (p.Thr45Ser) c.404C>G (p.Thr135Ser) c.695C>G (p.Thr232Ser) | |
5 | g.161331076G>T | CA362175417 | GABRB2 | c.884C>A (p.Thr295Asn) n.966C>A c.*343C>A (n.*343C>A) c.632C>A (p.Thr211Asn) c.134C>A (p.Thr45Asn) c.404C>A (p.Thr135Asn) c.695C>A (p.Thr232Asn) | |
5 | g.161331077T>A | CA362175418 | GABRB2 | c.883A>T (p.Thr295Ser) n.965A>T c.*342A>T (n.*342A>T) c.631A>T (p.Thr211Ser) c.133A>T (p.Thr45Ser) c.403A>T (p.Thr135Ser) c.694A>T (p.Thr232Ser) | |
5 | g.161331077T>C | CA362175419 | GABRB2 | c.883A>G (p.Thr295Ala) n.965A>G c.*342A>G (n.*342A>G) c.631A>G (p.Thr211Ala) c.133A>G (p.Thr45Ala) c.403A>G (p.Thr135Ala) c.694A>G (p.Thr232Ala) | gnomAD v4 |
5 | g.161331077T>G | CA362175420 | GABRB2 | c.883A>C (p.Thr295Pro) n.965A>C c.*342A>C (n.*342A>C) c.631A>C (p.Thr211Pro) c.133A>C (p.Thr45Pro) c.403A>C (p.Thr135Pro) c.694A>C (p.Thr232Pro) | |
5 | g.161331078T>A | CA362175422 | GABRB2 | c.882A>T (p.Glu294Asp) n.964A>T c.*341A>T (n.*341A>T) c.630A>T (p.Glu210Asp) c.132A>T (p.Glu44Asp) c.402A>T (p.Glu134Asp) c.693A>T (p.Glu231Asp) | |
5 | g.161331078T>C | CA447691558 | GABRB2 | c.882A>G (p.Glu294=) n.964A>G c.*341A>G (n.*341A>G) c.630A>G (p.Glu210=) c.132A>G (p.Glu44=) c.402A>G (p.Glu134=) c.693A>G (p.Glu231=) | |
5 | g.161331078T>G | CA362175421 | GABRB2 | c.882A>C (p.Glu294Asp) n.964A>C c.*341A>C (n.*341A>C) c.630A>C (p.Glu210Asp) c.132A>C (p.Glu44Asp) c.402A>C (p.Glu134Asp) c.693A>C (p.Glu231Asp) | |
5 | g.161331079T>A | CA362175423 | GABRB2 | c.881A>T (p.Glu294Val) n.963A>T c.*340A>T (n.*340A>T) c.629A>T (p.Glu210Val) c.131A>T (p.Glu44Val) c.401A>T (p.Glu134Val) c.692A>T (p.Glu231Val) | |
5 | g.161331079T>C | CA131019993 | GABRB2 | c.881A>G (p.Glu294Gly) n.963A>G c.*340A>G (n.*340A>G) c.629A>G (p.Glu210Gly) c.131A>G (p.Glu44Gly) c.401A>G (p.Glu134Gly) c.692A>G (p.Glu231Gly) | ClinVar dbSNP |
5 | g.161331079T>G | CA362175424 | GABRB2 | c.881A>C (p.Glu294Ala) n.963A>C c.*340A>C (n.*340A>C) c.629A>C (p.Glu210Ala) c.131A>C (p.Glu44Ala) c.401A>C (p.Glu134Ala) c.692A>C (p.Glu231Ala) | |
5 | g.161331079T= | CA1595983879 | GABRB2 | c.881A= (p.Glu294=) n.963A= c.*340A= (n.*340A=) c.629A= (p.Glu210=) c.131A= (p.Glu44=) c.401A= (p.Glu134=) c.692A= (p.Glu231=) | |
5 | g.161331080C>A | CA362175425 | GABRB2 | c.880G>T (p.Glu294Ter) n.962G>T c.*339G>T (n.*339G>T) c.628G>T (p.Glu210Ter) c.130G>T (p.Glu44Ter) c.400G>T (p.Glu134Ter) c.691G>T (p.Glu231Ter) | |
5 | g.161331080C>G | CA362175426 | GABRB2 | c.880G>C (p.Glu294Gln) n.962G>C c.*339G>C (n.*339G>C) c.628G>C (p.Glu210Gln) c.130G>C (p.Glu44Gln) c.400G>C (p.Glu134Gln) c.691G>C (p.Glu231Gln) | |
5 | g.161331080C>T | CA362175427 | GABRB2 | c.880G>A (p.Glu294Lys) n.962G>A c.*339G>A (n.*339G>A) c.628G>A (p.Glu210Lys) c.130G>A (p.Glu44Lys) c.400G>A (p.Glu134Lys) c.691G>A (p.Glu231Lys) | COSMIC COSMIC |
5 | g.161331082dup | CA2739272771 | GABRB2 | c.880dup (p.Glu294GlyfsTer5) n.962dup c.*339dup (n.*339dup) c.628dup (p.Glu210GlyfsTer5) c.130dup (p.Glu44GlyfsTer5) c.400dup (p.Glu134GlyfsTer5) c.691dup (p.Glu231GlyfsTer5) | ClinVar |
5 | g.161331081C>A | CA447691566 | GABRB2 | c.879G>T (p.Arg293=) n.961G>T c.*338G>T (n.*338G>T) c.627G>T (p.Arg209=) c.129G>T (p.Arg43=) c.399G>T (p.Arg133=) c.690G>T (p.Arg230=) | |
5 | g.161331081C>G | CA447691565 | GABRB2 | c.879G>C (p.Arg293=) n.961G>C c.*338G>C (n.*338G>C) c.627G>C (p.Arg209=) c.129G>C (p.Arg43=) c.399G>C (p.Arg133=) c.690G>C (p.Arg230=) | |
5 | g.161331081C>T | CA447691564 | GABRB2 | c.879G>A (p.Arg293=) n.961G>A c.*338G>A (n.*338G>A) c.627G>A (p.Arg209=) c.129G>A (p.Arg43=) c.399G>A (p.Arg133=) c.690G>A (p.Arg230=) | COSMIC COSMIC |
5 | g.161331082C>A | CA362175428 | GABRB2 | c.878G>T (p.Arg293Leu) n.960G>T c.*337G>T (n.*337G>T) c.626G>T (p.Arg209Leu) c.128G>T (p.Arg43Leu) c.398G>T (p.Arg133Leu) c.689G>T (p.Arg230Leu) | gnomAD v4 |
5 | g.161331082C= | CA1595983880 | GABRB2 | c.878G= (p.Arg293=) n.960G= c.*337G= (n.*337G=) c.626G= (p.Arg209=) c.128G= (p.Arg43=) c.398G= (p.Arg133=) c.689G= (p.Arg230=) | |
5 | g.161331082C>G | CA362175429 | GABRB2 | c.878G>C (p.Arg293Pro) n.960G>C c.*337G>C (n.*337G>C) c.626G>C (p.Arg209Pro) c.128G>C (p.Arg43Pro) c.398G>C (p.Arg133Pro) c.689G>C (p.Arg230Pro) | ClinVar |
5 | g.161331082C>T | CA362175430 | GABRB2 | c.878G>A (p.Arg293Gln) n.960G>A c.*337G>A (n.*337G>A) c.626G>A (p.Arg209Gln) c.128G>A (p.Arg43Gln) c.398G>A (p.Arg133Gln) c.689G>A (p.Arg230Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.161331083G>A | CA362175431 | GABRB2 | c.877C>T (p.Arg293Trp) n.959C>T c.*336C>T (n.*336C>T) c.625C>T (p.Arg209Trp) c.127C>T (p.Arg43Trp) c.397C>T (p.Arg133Trp) c.688C>T (p.Arg230Trp) | ClinVar dbSNP gnomAD v4 |
5 | g.161331083G>C | CA362175432 | GABRB2 | c.877C>G (p.Arg293Gly) n.959C>G c.*336C>G (n.*336C>G) c.625C>G (p.Arg209Gly) c.127C>G (p.Arg43Gly) c.397C>G (p.Arg133Gly) c.688C>G (p.Arg230Gly) | dbSNP |
5 | g.161331083G= | CA1595983881 | GABRB2 | c.877C= (p.Arg293=) n.959C= c.*336C= (n.*336C=) c.625C= (p.Arg209=) c.127C= (p.Arg43=) c.397C= (p.Arg133=) c.688C= (p.Arg230=) | |
5 | g.161331083G>T | CA447691569 | GABRB2 | c.877C>A (p.Arg293=) n.959C>A c.*336C>A (n.*336C>A) c.625C>A (p.Arg209=) c.127C>A (p.Arg43=) c.397C>A (p.Arg133=) c.688C>A (p.Arg230=) | gnomAD v4 |
5 | g.161331084G>A | CA447691572 | GABRB2 | c.876C>T (p.Leu292=) n.958C>T c.*335C>T (n.*335C>T) c.624C>T (p.Leu208=) c.126C>T (p.Leu42=) c.396C>T (p.Leu132=) c.687C>T (p.Leu229=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.161331084G>C | CA447691575 | GABRB2 | c.876C>G (p.Leu292=) n.958C>G c.*335C>G (n.*335C>G) c.624C>G (p.Leu208=) c.126C>G (p.Leu42=) c.396C>G (p.Leu132=) c.687C>G (p.Leu229=) | |
5 | g.161331084G= | CA1595983882 | GABRB2 | c.876C= (p.Leu292=) n.958C= c.*335C= (n.*335C=) c.624C= (p.Leu208=) c.126C= (p.Leu42=) c.396C= (p.Leu132=) c.687C= (p.Leu229=) | |
5 | g.161331084G>T | CA447691574 | GABRB2 | c.876C>A (p.Leu292=) n.958C>A c.*335C>A (n.*335C>A) c.624C>A (p.Leu208=) c.126C>A (p.Leu42=) c.396C>A (p.Leu132=) c.687C>A (p.Leu229=) | |
5 | g.161331085A>C | CA362175433 | GABRB2 | c.875T>G (p.Leu292Arg) n.957T>G c.*334T>G (n.*334T>G) c.623T>G (p.Leu208Arg) c.125T>G (p.Leu42Arg) c.395T>G (p.Leu132Arg) c.686T>G (p.Leu229Arg) | |
5 | g.161331085A>G | CA362175434 | GABRB2 | c.875T>C (p.Leu292Pro) n.957T>C c.*334T>C (n.*334T>C) c.623T>C (p.Leu208Pro) c.125T>C (p.Leu42Pro) c.395T>C (p.Leu132Pro) c.686T>C (p.Leu229Pro) | |
5 | g.161331085A>T | CA362175435 | GABRB2 | c.875T>A (p.Leu292His) n.957T>A c.*334T>A (n.*334T>A) c.623T>A (p.Leu208His) c.125T>A (p.Leu42His) c.395T>A (p.Leu132His) c.686T>A (p.Leu229His) | |
5 | g.161331086G>A | CA362175436 | GABRB2 | c.874C>T (p.Leu292Phe) n.956C>T c.*333C>T (n.*333C>T) c.622C>T (p.Leu208Phe) c.124C>T (p.Leu42Phe) c.394C>T (p.Leu132Phe) c.685C>T (p.Leu229Phe) | |
5 | g.161331086G>C | CA362175437 | GABRB2 | c.874C>G (p.Leu292Val) n.956C>G c.*333C>G (n.*333C>G) c.622C>G (p.Leu208Val) c.124C>G (p.Leu42Val) c.394C>G (p.Leu132Val) c.685C>G (p.Leu229Val) | |
5 | g.161331086G>T | CA362175438 | GABRB2 | c.874C>A (p.Leu292Ile) n.956C>A c.*333C>A (n.*333C>A) c.622C>A (p.Leu208Ile) c.124C>A (p.Leu42Ile) c.394C>A (p.Leu132Ile) c.685C>A (p.Leu229Ile) | |
5 | g.161331087G>A | CA447691580 | GABRB2 | c.873C>T (p.His291=) n.955C>T c.*332C>T (n.*332C>T) c.621C>T (p.His207=) c.123C>T (p.His41=) c.393C>T (p.His131=) c.684C>T (p.His228=) | |
5 | g.161331087G>C | CA362175440 | GABRB2 | c.873C>G (p.His291Gln) n.955C>G c.*332C>G (n.*332C>G) c.621C>G (p.His207Gln) c.123C>G (p.His41Gln) c.393C>G (p.His131Gln) c.684C>G (p.His228Gln) | |
5 | g.161331087G>T | CA362175439 | GABRB2 | c.873C>A (p.His291Gln) n.955C>A c.*332C>A (n.*332C>A) c.621C>A (p.His207Gln) c.123C>A (p.His41Gln) c.393C>A (p.His131Gln) c.684C>A (p.His228Gln) | |
5 | g.161331088T>A | CA362175441 | GABRB2 | c.872A>T (p.His291Leu) n.954A>T c.*331A>T (n.*331A>T) c.620A>T (p.His207Leu) c.122A>T (p.His41Leu) c.392A>T (p.His131Leu) c.683A>T (p.His228Leu) | |
5 | g.161331088T>C | CA362175442 | GABRB2 | c.872A>G (p.His291Arg) n.954A>G c.*331A>G (n.*331A>G) c.620A>G (p.His207Arg) c.122A>G (p.His41Arg) c.392A>G (p.His131Arg) c.683A>G (p.His228Arg) | COSMIC COSMIC |
5 | g.161331088T>G | CA362175443 | GABRB2 | c.872A>C (p.His291Pro) n.954A>C c.*331A>C (n.*331A>C) c.620A>C (p.His207Pro) c.122A>C (p.His41Pro) c.392A>C (p.His131Pro) c.683A>C (p.His228Pro) | |
5 | g.161331089G>A | CA362175444 | GABRB2 | c.871C>T (p.His291Tyr) n.953C>T c.*330C>T (n.*330C>T) c.619C>T (p.His207Tyr) c.121C>T (p.His41Tyr) c.391C>T (p.His131Tyr) c.682C>T (p.His228Tyr) | |
5 | g.161331089G>C | CA362175445 | GABRB2 | c.871C>G (p.His291Asp) n.953C>G c.*330C>G (n.*330C>G) c.619C>G (p.His207Asp) c.121C>G (p.His41Asp) c.391C>G (p.His131Asp) c.682C>G (p.His228Asp) | |
5 | g.161331089G>T | CA362175446 | GABRB2 | c.871C>A (p.His291Asn) n.953C>A c.*330C>A (n.*330C>A) c.619C>A (p.His207Asn) c.121C>A (p.His41Asn) c.391C>A (p.His131Asn) c.682C>A (p.His228Asn) | |
5 | g.161331090G>A | CA447691582 | GABRB2 | c.870C>T (p.Thr290=) n.952C>T c.*329C>T (n.*329C>T) c.618C>T (p.Thr206=) c.120C>T (p.Thr40=) c.390C>T (p.Thr130=) c.681C>T (p.Thr227=) | |
5 | g.161331090G>C | CA447691583 | GABRB2 | c.870C>G (p.Thr290=) n.952C>G c.*329C>G (n.*329C>G) c.618C>G (p.Thr206=) c.120C>G (p.Thr40=) c.390C>G (p.Thr130=) c.681C>G (p.Thr227=) | |
5 | g.161331090G>T | CA447691584 | GABRB2 | c.870C>A (p.Thr290=) n.952C>A c.*329C>A (n.*329C>A) c.618C>A (p.Thr206=) c.120C>A (p.Thr40=) c.390C>A (p.Thr130=) c.681C>A (p.Thr227=) | |
5 | g.161331091G>A | CA362175449 | GABRB2 | c.869C>T (p.Thr290Ile) n.951C>T c.*328C>T (n.*328C>T) c.617C>T (p.Thr206Ile) c.119C>T (p.Thr40Ile) c.389C>T (p.Thr130Ile) c.680C>T (p.Thr227Ile) | |
5 | g.161331091G>C | CA362175447 | GABRB2 | c.869C>G (p.Thr290Ser) n.951C>G c.*328C>G (n.*328C>G) c.617C>G (p.Thr206Ser) c.119C>G (p.Thr40Ser) c.389C>G (p.Thr130Ser) c.680C>G (p.Thr227Ser) | |
5 | g.161331091G>T | CA362175448 | GABRB2 | c.869C>A (p.Thr290Asn) n.951C>A c.*328C>A (n.*328C>A) c.617C>A (p.Thr206Asn) c.119C>A (p.Thr40Asn) c.389C>A (p.Thr130Asn) c.680C>A (p.Thr227Asn) | |
5 | g.161331092T>A | CA362175450 | GABRB2 | c.868A>T (p.Thr290Ser) n.950A>T c.*327A>T (n.*327A>T) c.616A>T (p.Thr206Ser) c.118A>T (p.Thr40Ser) c.388A>T (p.Thr130Ser) c.679A>T (p.Thr227Ser) | |
5 | g.161331092T>C | CA362175451 | GABRB2 | c.868A>G (p.Thr290Ala) n.950A>G c.*327A>G (n.*327A>G) c.616A>G (p.Thr206Ala) c.118A>G (p.Thr40Ala) c.388A>G (p.Thr130Ala) c.679A>G (p.Thr227Ala) | COSMIC COSMIC |
5 | g.161331092T>G | CA362175452 | GABRB2 | c.868A>C (p.Thr290Pro) n.950A>C c.*327A>C (n.*327A>C) c.616A>C (p.Thr206Pro) c.118A>C (p.Thr40Pro) c.388A>C (p.Thr130Pro) c.679A>C (p.Thr227Pro) | |
5 | g.161331093G>A | CA447691585 | GABRB2 | c.867C>T (p.Asn289=) n.949C>T c.*326C>T (n.*326C>T) c.615C>T (p.Asn205=) c.117C>T (p.Asn39=) c.387C>T (p.Asn129=) c.678C>T (p.Asn226=) | gnomAD v4 |
5 | g.161331093G>C | CA362175453 | GABRB2 | c.867C>G (p.Asn289Lys) n.949C>G c.*326C>G (n.*326C>G) c.615C>G (p.Asn205Lys) c.117C>G (p.Asn39Lys) c.387C>G (p.Asn129Lys) c.678C>G (p.Asn226Lys) | |
5 | g.161331093G= | CA1595983883 | GABRB2 | c.867C= (p.Asn289=) n.949C= c.*326C= (n.*326C=) c.615C= (p.Asn205=) c.117C= (p.Asn39=) c.387C= (p.Asn129=) c.678C= (p.Asn226=) | |
5 | g.161331093G>T | CA16618150 | GABRB2 | c.867C>A (p.Asn289Lys) n.949C>A c.*326C>A (n.*326C>A) c.615C>A (p.Asn205Lys) c.117C>A (p.Asn39Lys) c.387C>A (p.Asn129Lys) c.678C>A (p.Asn226Lys) | ClinVar dbSNP |
5 | g.161331094T>A | CA362175455 | GABRB2 | c.866A>T (p.Asn289Ile) n.948A>T c.*325A>T (n.*325A>T) c.614A>T (p.Asn205Ile) c.116A>T (p.Asn39Ile) c.386A>T (p.Asn129Ile) c.677A>T (p.Asn226Ile) | |
5 | g.161331094T>C | CA3543459 | GABRB2 | c.866A>G (p.Asn289Ser) n.948A>G c.*325A>G (n.*325A>G) c.614A>G (p.Asn205Ser) c.116A>G (p.Asn39Ser) c.386A>G (p.Asn129Ser) c.677A>G (p.Asn226Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
5 | g.161331094T>G | CA362175454 | GABRB2 | c.866A>C (p.Asn289Thr) n.948A>C c.*325A>C (n.*325A>C) c.614A>C (p.Asn205Thr) c.116A>C (p.Asn39Thr) c.386A>C (p.Asn129Thr) c.677A>C (p.Asn226Thr) | |
5 | g.161331094T= | CA1595983884 | GABRB2 | c.866A= (p.Asn289=) n.948A= c.*325A= (n.*325A=) c.614A= (p.Asn205=) c.116A= (p.Asn39=) c.386A= (p.Asn129=) c.677A= (p.Asn226=) | |
5 | g.161331095T>A | CA362175456 | GABRB2 | c.865A>T (p.Asn289Tyr) n.947A>T c.*324A>T (n.*324A>T) c.613A>T (p.Asn205Tyr) c.115A>T (p.Asn39Tyr) c.385A>T (p.Asn129Tyr) c.676A>T (p.Asn226Tyr) | |
5 | g.161331095T>C | CA362175457 | GABRB2 | c.865A>G (p.Asn289Asp) n.947A>G c.*324A>G (n.*324A>G) c.613A>G (p.Asn205Asp) c.115A>G (p.Asn39Asp) c.385A>G (p.Asn129Asp) c.676A>G (p.Asn226Asp) | |
5 | g.161331095T>G | CA362175458 | GABRB2 | c.865A>C (p.Asn289His) n.947A>C c.*324A>C (n.*324A>C) c.613A>C (p.Asn205His) c.115A>C (p.Asn39His) c.385A>C (p.Asn129His) c.676A>C (p.Asn226His) | |
5 | g.161331096G>A | CA447691589 | GABRB2 | c.864C>T (p.Ile288=) n.946C>T c.*323C>T (n.*323C>T) c.612C>T (p.Ile204=) c.114C>T (p.Ile38=) c.384C>T (p.Ile128=) c.675C>T (p.Ile225=) | |
5 | g.161331096G>C | CA362175459 | GABRB2 | c.864C>G (p.Ile288Met) n.946C>G c.*323C>G (n.*323C>G) c.612C>G (p.Ile204Met) c.114C>G (p.Ile38Met) c.384C>G (p.Ile128Met) c.675C>G (p.Ile225Met) | |
5 | g.161331096G>T | CA447691590 | GABRB2 | c.864C>A (p.Ile288=) n.946C>A c.*323C>A (n.*323C>A) c.612C>A (p.Ile204=) c.114C>A (p.Ile38=) c.384C>A (p.Ile128=) c.675C>A (p.Ile225=) | |
5 | g.161331097A= | CA1595983885 | GABRB2 | c.863T= (p.Ile288=) n.945T= c.*322T= (n.*322T=) c.611T= (p.Ile204=) c.113T= (p.Ile38=) c.383T= (p.Ile128=) c.674T= (p.Ile225=) | |
5 | g.161331097A>C | CA362175460 | GABRB2 | c.863T>G (p.Ile288Ser) n.945T>G c.*322T>G (n.*322T>G) c.611T>G (p.Ile204Ser) c.113T>G (p.Ile38Ser) c.383T>G (p.Ile128Ser) c.674T>G (p.Ile225Ser) | |
5 | g.161331097A>G | CA16618151 | GABRB2 | c.863T>C (p.Ile288Thr) n.945T>C c.*322T>C (n.*322T>C) c.611T>C (p.Ile204Thr) c.113T>C (p.Ile38Thr) c.383T>C (p.Ile128Thr) c.674T>C (p.Ile225Thr) | ClinVar dbSNP |
5 | g.161331097A>T | CA362175461 | GABRB2 | c.863T>A (p.Ile288Asn) n.945T>A c.*322T>A (n.*322T>A) c.611T>A (p.Ile204Asn) c.113T>A (p.Ile38Asn) c.383T>A (p.Ile128Asn) c.674T>A (p.Ile225Asn) | |
5 | g.161331098T>A | CA362175462 | GABRB2 | c.862A>T (p.Ile288Phe) n.944A>T c.*321A>T (n.*321A>T) c.610A>T (p.Ile204Phe) c.112A>T (p.Ile38Phe) c.382A>T (p.Ile128Phe) c.673A>T (p.Ile225Phe) | |
5 | g.161331098T>C | CA131019994 | GABRB2 | c.862A>G (p.Ile288Val) n.944A>G c.*321A>G (n.*321A>G) c.610A>G (p.Ile204Val) c.112A>G (p.Ile38Val) c.382A>G (p.Ile128Val) c.673A>G (p.Ile225Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.161331098T>G | CA362175463 | GABRB2 | c.862A>C (p.Ile288Leu) n.944A>C c.*321A>C (n.*321A>C) c.610A>C (p.Ile204Leu) c.112A>C (p.Ile38Leu) c.382A>C (p.Ile128Leu) c.673A>C (p.Ile225Leu) | |
5 | g.161331098T= | CA1595983886 | GABRB2 | c.862A= (p.Ile288=) n.944A= c.*321A= (n.*321A=) c.610A= (p.Ile204=) c.112A= (p.Ile38=) c.382A= (p.Ile128=) c.673A= (p.Ile225=) | |
5 | g.161331099T>A | CA447691595 | GABRB2 | c.861A>T (p.Thr287=) n.943A>T c.*320A>T (n.*320A>T) c.609A>T (p.Thr203=) c.111A>T (p.Thr37=) c.381A>T (p.Thr127=) c.672A>T (p.Thr224=) | |
5 | g.161331099T>C | CA447691596 | GABRB2 | c.861A>G (p.Thr287=) n.943A>G c.*320A>G (n.*320A>G) c.609A>G (p.Thr203=) c.111A>G (p.Thr37=) c.381A>G (p.Thr127=) c.672A>G (p.Thr224=) | |
5 | g.161331099T>G | CA447691594 | GABRB2 | c.861A>C (p.Thr287=) n.943A>C c.*320A>C (n.*320A>C) c.609A>C (p.Thr203=) c.111A>C (p.Thr37=) c.381A>C (p.Thr127=) c.672A>C (p.Thr224=) | |
5 | g.161331100G>A | CA362175464 | GABRB2 | c.860C>T (p.Thr287Ile) n.942C>T c.*319C>T (n.*319C>T) c.608C>T (p.Thr203Ile) c.110C>T (p.Thr37Ile) c.380C>T (p.Thr127Ile) c.671C>T (p.Thr224Ile) | ClinVar dbSNP |
5 | g.161331100G>C | CA362175465 | GABRB2 | c.860C>G (p.Thr287Arg) n.942C>G c.*319C>G (n.*319C>G) c.608C>G (p.Thr203Arg) c.110C>G (p.Thr37Arg) c.380C>G (p.Thr127Arg) c.671C>G (p.Thr224Arg) | |
5 | g.161331100G= | CA1595983887 | GABRB2 | c.860C= (p.Thr287=) n.942C= c.*319C= (n.*319C=) c.608C= (p.Thr203=) c.110C= (p.Thr37=) c.380C= (p.Thr127=) c.671C= (p.Thr224=) | |
5 | g.161331100G>T | CA362175466 | GABRB2 | c.860C>A (p.Thr287Lys) n.942C>A c.*319C>A (n.*319C>A) c.608C>A (p.Thr203Lys) c.110C>A (p.Thr37Lys) c.380C>A (p.Thr127Lys) c.671C>A (p.Thr224Lys) | |
5 | g.161331101T>A | CA362175469 | GABRB2 | c.859A>T (p.Thr287Ser) n.941A>T c.*318A>T (n.*318A>T) c.607A>T (p.Thr203Ser) c.109A>T (p.Thr37Ser) c.379A>T (p.Thr127Ser) c.670A>T (p.Thr224Ser) | |
5 | g.161331101T>C | CA362175467 | GABRB2 | c.859A>G (p.Thr287Ala) n.941A>G c.*318A>G (n.*318A>G) c.607A>G (p.Thr203Ala) c.109A>G (p.Thr37Ala) c.379A>G (p.Thr127Ala) c.670A>G (p.Thr224Ala) | |
5 | g.161331101T>G | CA362175468 | GABRB2 | c.859A>C (p.Thr287Pro) n.941A>C c.*318A>C (n.*318A>C) c.607A>C (p.Thr203Pro) c.109A>C (p.Thr37Pro) c.379A>C (p.Thr127Pro) c.670A>C (p.Thr224Pro) | ClinVar dbSNP |
5 | g.161331101T= | CA1595983888 | GABRB2 | c.859A= (p.Thr287=) n.941A= c.*318A= (n.*318A=) c.607A= (p.Thr203=) c.109A= (p.Thr37=) c.379A= (p.Thr127=) c.670A= (p.Thr224=) | |
5 | g.161331102G>A | CA447691598 | GABRB2 | c.858C>T (p.Thr286=) n.940C>T c.*317C>T (n.*317C>T) c.606C>T (p.Thr202=) c.108C>T (p.Thr36=) c.378C>T (p.Thr126=) c.669C>T (p.Thr223=) | gnomAD v4 |
5 | g.161331102G>C | CA447691600 | GABRB2 | c.858C>G (p.Thr286=) n.940C>G c.*317C>G (n.*317C>G) c.606C>G (p.Thr202=) c.108C>G (p.Thr36=) c.378C>G (p.Thr126=) c.669C>G (p.Thr223=) | |
5 | g.161331102G>T | CA447691599 | GABRB2 | c.858C>A (p.Thr286=) n.940C>A c.*317C>A (n.*317C>A) c.606C>A (p.Thr202=) c.108C>A (p.Thr36=) c.378C>A (p.Thr126=) c.669C>A (p.Thr223=) | gnomAD v4 |
5 | g.161331103G>A | CA362175470 | GABRB2 | c.857C>T (p.Thr286Ile) n.939C>T c.*316C>T (n.*316C>T) c.605C>T (p.Thr202Ile) c.107C>T (p.Thr36Ile) c.377C>T (p.Thr126Ile) c.668C>T (p.Thr223Ile) | ClinVar dbSNP |
5 | g.161331103G>C | CA362175471 | GABRB2 | c.857C>G (p.Thr286Ser) n.939C>G c.*316C>G (n.*316C>G) c.605C>G (p.Thr202Ser) c.107C>G (p.Thr36Ser) c.377C>G (p.Thr126Ser) c.668C>G (p.Thr223Ser) | |
5 | g.161331103G= | CA1595983889 | GABRB2 | c.857C= (p.Thr286=) n.939C= c.*316C= (n.*316C=) c.605C= (p.Thr202=) c.107C= (p.Thr36=) c.377C= (p.Thr126=) c.668C= (p.Thr223=) | |
5 | g.161331103G>T | CA362175472 | GABRB2 | c.857C>A (p.Thr286Asn) n.939C>A c.*316C>A (n.*316C>A) c.605C>A (p.Thr202Asn) c.107C>A (p.Thr36Asn) c.377C>A (p.Thr126Asn) c.668C>A (p.Thr223Asn) | ClinVar dbSNP |
5 | g.161331104T>A | CA362175473 | GABRB2 | c.856A>T (p.Thr286Ser) n.938A>T c.*315A>T (n.*315A>T) c.604A>T (p.Thr202Ser) c.106A>T (p.Thr36Ser) c.376A>T (p.Thr126Ser) c.667A>T (p.Thr223Ser) | |
5 | g.161331104T>C | CA362175474 | GABRB2 | c.856A>G (p.Thr286Ala) n.938A>G c.*315A>G (n.*315A>G) c.604A>G (p.Thr202Ala) c.106A>G (p.Thr36Ala) c.376A>G (p.Thr126Ala) c.667A>G (p.Thr223Ala) | |
5 | g.161331104T>G | CA362175475 | GABRB2 | c.856A>C (p.Thr286Pro) n.938A>C c.*315A>C (n.*315A>C) c.604A>C (p.Thr202Pro) c.106A>C (p.Thr36Pro) c.376A>C (p.Thr126Pro) c.667A>C (p.Thr223Pro) | |
5 | g.161331105C>A | CA362175476 | GABRB2 | c.855G>T (p.Met285Ile) n.937G>T c.*314G>T (n.*314G>T) c.603G>T (p.Met201Ile) c.105G>T (p.Met35Ile) c.375G>T (p.Met125Ile) c.666G>T (p.Met222Ile) | gnomAD v4 |
5 | g.161331105C>G | CA362175477 | GABRB2 | c.855G>C (p.Met285Ile) n.937G>C c.*314G>C (n.*314G>C) c.603G>C (p.Met201Ile) c.105G>C (p.Met35Ile) c.375G>C (p.Met125Ile) c.666G>C (p.Met222Ile) | |
5 | g.161331105C>T | CA362175478 | GABRB2 | c.855G>A (p.Met285Ile) n.937G>A c.*314G>A (n.*314G>A) c.603G>A (p.Met201Ile) c.105G>A (p.Met35Ile) c.375G>A (p.Met125Ile) c.666G>A (p.Met222Ile) | |
5 | g.161331106A>C | CA362175479 | GABRB2 | c.854T>G (p.Met285Arg) n.936T>G c.*313T>G (n.*313T>G) c.602T>G (p.Met201Arg) c.104T>G (p.Met35Arg) c.374T>G (p.Met125Arg) c.665T>G (p.Met222Arg) | |
5 | g.161331106A>G | CA362175480 | GABRB2 | c.854T>C (p.Met285Thr) n.936T>C c.*313T>C (n.*313T>C) c.602T>C (p.Met201Thr) c.104T>C (p.Met35Thr) c.374T>C (p.Met125Thr) c.665T>C (p.Met222Thr) | ClinVar |
5 | g.161331106A>T | CA362175481 | GABRB2 | c.854T>A (p.Met285Lys) n.936T>A c.*313T>A (n.*313T>A) c.602T>A (p.Met201Lys) c.104T>A (p.Met35Lys) c.374T>A (p.Met125Lys) c.665T>A (p.Met222Lys) | |
5 | g.161331107T>A | CA362175482 | GABRB2 | c.853A>T (p.Met285Leu) n.935A>T c.*312A>T (n.*312A>T) c.601A>T (p.Met201Leu) c.103A>T (p.Met35Leu) c.373A>T (p.Met125Leu) c.664A>T (p.Met222Leu) | |
5 | g.161331107T>C | CA362175484 | GABRB2 | c.853A>G (p.Met285Val) n.935A>G c.*312A>G (n.*312A>G) c.601A>G (p.Met201Val) c.103A>G (p.Met35Val) c.373A>G (p.Met125Val) c.664A>G (p.Met222Val) | |
5 | g.161331107T>G | CA362175483 | GABRB2 | c.853A>C (p.Met285Leu) n.935A>C c.*312A>C (n.*312A>C) c.601A>C (p.Met201Leu) c.103A>C (p.Met35Leu) c.373A>C (p.Met125Leu) c.664A>C (p.Met222Leu) | |
5 | g.161331108T>A | CA447691607 | GABRB2 | c.852A>T (p.Thr284=) n.934A>T c.*311A>T (n.*311A>T) c.600A>T (p.Thr200=) c.102A>T (p.Thr34=) c.372A>T (p.Thr124=) c.663A>T (p.Thr221=) | |
5 | g.161331108T>C | CA447691608 | GABRB2 | c.852A>G (p.Thr284=) n.934A>G c.*311A>G (n.*311A>G) c.600A>G (p.Thr200=) c.102A>G (p.Thr34=) c.372A>G (p.Thr124=) c.663A>G (p.Thr221=) | |
5 | g.161331108T>G | CA447691609 | GABRB2 | c.852A>C (p.Thr284=) n.934A>C c.*311A>C (n.*311A>C) c.600A>C (p.Thr200=) c.102A>C (p.Thr34=) c.372A>C (p.Thr124=) c.663A>C (p.Thr221=) | |
5 | g.161331109G>A | CA362175485 | GABRB2 | c.851C>T (p.Thr284Ile) n.933C>T c.*310C>T (n.*310C>T) c.599C>T (p.Thr200Ile) c.101C>T (p.Thr34Ile) c.371C>T (p.Thr124Ile) c.662C>T (p.Thr221Ile) | |
5 | g.161331109G>C | CA362175487 | GABRB2 | c.851C>G (p.Thr284Arg) n.933C>G c.*310C>G (n.*310C>G) c.599C>G (p.Thr200Arg) c.101C>G (p.Thr34Arg) c.371C>G (p.Thr124Arg) c.662C>G (p.Thr221Arg) | |
5 | g.161331109G>T | CA362175486 | GABRB2 | c.851C>A (p.Thr284Lys) n.933C>A c.*310C>A (n.*310C>A) c.599C>A (p.Thr200Lys) c.101C>A (p.Thr34Lys) c.371C>A (p.Thr124Lys) c.662C>A (p.Thr221Lys) | |
5 | g.161331110T>A | CA362175488 | GABRB2 | c.850A>T (p.Thr284Ser) n.932A>T c.*309A>T (n.*309A>T) c.598A>T (p.Thr200Ser) c.100A>T (p.Thr34Ser) c.370A>T (p.Thr124Ser) c.661A>T (p.Thr221Ser) | COSMIC COSMIC |
5 | g.161331110T>C | CA362175489 | GABRB2 | c.850A>G (p.Thr284Ala) n.932A>G c.*309A>G (n.*309A>G) c.598A>G (p.Thr200Ala) c.100A>G (p.Thr34Ala) c.370A>G (p.Thr124Ala) c.661A>G (p.Thr221Ala) | ClinVar dbSNP |
5 | g.161331110T>G | CA362175490 | GABRB2 | c.850A>C (p.Thr284Pro) n.932A>C c.*309A>C (n.*309A>C) c.598A>C (p.Thr200Pro) c.100A>C (p.Thr34Pro) c.370A>C (p.Thr124Pro) c.661A>C (p.Thr221Pro) | |
5 | g.161331110T= | CA1595983890 | GABRB2 | c.850A= (p.Thr284=) n.932A= c.*309A= (n.*309A=) c.598A= (p.Thr200=) c.100A= (p.Thr34=) c.370A= (p.Thr124=) c.661A= (p.Thr221=) | |
5 | g.161331111G>A | CA3543460 | GABRB2 | c.849C>T (p.Leu283=) n.931C>T c.*308C>T (n.*308C>T) c.597C>T (p.Leu199=) c.99C>T (p.Leu33=) c.369C>T (p.Leu123=) c.660C>T (p.Leu220=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.161331111G>C | CA447691612 | GABRB2 | c.849C>G (p.Leu283=) n.931C>G c.*308C>G (n.*308C>G) c.597C>G (p.Leu199=) c.99C>G (p.Leu33=) c.369C>G (p.Leu123=) c.660C>G (p.Leu220=) | |
5 | g.161331111G= | CA1595983891 | GABRB2 | c.849C= (p.Leu283=) n.931C= c.*308C= (n.*308C=) c.597C= (p.Leu199=) c.99C= (p.Leu33=) c.369C= (p.Leu123=) c.660C= (p.Leu220=) | |
5 | g.161331111G>T | CA447691611 | GABRB2 | c.849C>A (p.Leu283=) n.931C>A c.*308C>A (n.*308C>A) c.597C>A (p.Leu199=) c.99C>A (p.Leu33=) c.369C>A (p.Leu123=) c.660C>A (p.Leu220=) | |
5 | g.161331112A= | CA1595983892 | GABRB2 | c.848T= (p.Leu283=) n.930T= c.*307T= (n.*307T=) c.596T= (p.Leu199=) c.98T= (p.Leu33=) c.368T= (p.Leu123=) c.659T= (p.Leu220=) | |
5 | g.161331112A>C | CA362175491 | GABRB2 | c.848T>G (p.Leu283Arg) n.930T>G c.*307T>G (n.*307T>G) c.596T>G (p.Leu199Arg) c.98T>G (p.Leu33Arg) c.368T>G (p.Leu123Arg) c.659T>G (p.Leu220Arg) | |
5 | g.161331112A>G | CA362175492 | GABRB2 | c.848T>C (p.Leu283Pro) n.930T>C c.*307T>C (n.*307T>C) c.596T>C (p.Leu199Pro) c.98T>C (p.Leu33Pro) c.368T>C (p.Leu123Pro) c.659T>C (p.Leu220Pro) | ClinVar dbSNP |
5 | g.161331112A>T | CA362175493 | GABRB2 | c.848T>A (p.Leu283His) n.930T>A c.*307T>A (n.*307T>A) c.596T>A (p.Leu199His) c.98T>A (p.Leu33His) c.368T>A (p.Leu123His) c.659T>A (p.Leu220His) | |
5 | g.161331113G>A | CA362175494 | GABRB2 | c.847C>T (p.Leu283Phe) n.929C>T c.*306C>T (n.*306C>T) c.595C>T (p.Leu199Phe) c.97C>T (p.Leu33Phe) c.367C>T (p.Leu123Phe) c.658C>T (p.Leu220Phe) | |
5 | g.161331113G>C | CA362175495 | GABRB2 | c.847C>G (p.Leu283Val) n.929C>G c.*306C>G (n.*306C>G) c.595C>G (p.Leu199Val) c.97C>G (p.Leu33Val) c.367C>G (p.Leu123Val) c.658C>G (p.Leu220Val) | |
5 | g.161331113G>T | CA362175496 | GABRB2 | c.847C>A (p.Leu283Ile) n.929C>A c.*306C>A (n.*306C>A) c.595C>A (p.Leu199Ile) c.97C>A (p.Leu33Ile) c.367C>A (p.Leu123Ile) c.658C>A (p.Leu220Ile) | gnomAD v4 |
5 | g.161331114G>A | CA447691614 | GABRB2 | c.846C>T (p.Val282=) n.928C>T c.*305C>T (n.*305C>T) c.594C>T (p.Val198=) c.96C>T (p.Val32=) c.366C>T (p.Val122=) c.657C>T (p.Val219=) | |
5 | g.161331114G>C | CA447691615 | GABRB2 | c.846C>G (p.Val282=) n.928C>G c.*305C>G (n.*305C>G) c.594C>G (p.Val198=) c.96C>G (p.Val32=) c.366C>G (p.Val122=) c.657C>G (p.Val219=) | gnomAD v4 |
5 | g.161331114G>T | CA447691616 | GABRB2 | c.846C>A (p.Val282=) n.928C>A c.*305C>A (n.*305C>A) c.594C>A (p.Val198=) c.96C>A (p.Val32=) c.366C>A (p.Val122=) c.657C>A (p.Val219=) | |
5 | g.161331115A= | CA1595983893 | GABRB2 | c.845T= (p.Val282=) n.927T= c.*304T= (n.*304T=) c.593T= (p.Val198=) c.95T= (p.Val32=) c.365T= (p.Val122=) c.656T= (p.Val219=) | |
5 | g.161331115A>C | CA362175497 | GABRB2 | c.845T>G (p.Val282Gly) n.927T>G c.*304T>G (n.*304T>G) c.593T>G (p.Val198Gly) c.95T>G (p.Val32Gly) c.365T>G (p.Val122Gly) c.656T>G (p.Val219Gly) | |
5 | g.161331115A>G | CA10588396 | GABRB2 | c.845T>C (p.Val282Ala) n.927T>C c.*304T>C (n.*304T>C) c.593T>C (p.Val198Ala) c.95T>C (p.Val32Ala) c.365T>C (p.Val122Ala) c.656T>C (p.Val219Ala) | ClinVar dbSNP |
5 | g.161331115A>T | CA362175498 | GABRB2 | c.845T>A (p.Val282Asp) n.927T>A c.*304T>A (n.*304T>A) c.593T>A (p.Val198Asp) c.95T>A (p.Val32Asp) c.365T>A (p.Val122Asp) c.656T>A (p.Val219Asp) | |
5 | g.161331116C>A | CA362175499 | GABRB2 | c.844G>T (p.Val282Phe) n.926G>T c.*303G>T (n.*303G>T) c.592G>T (p.Val198Phe) c.94G>T (p.Val32Phe) c.364G>T (p.Val122Phe) c.655G>T (p.Val219Phe) | ClinVar dbSNP |
5 | g.161331116C= | CA1595983894 | GABRB2 | c.844G= (p.Val282=) n.926G= c.*303G= (n.*303G=) c.592G= (p.Val198=) c.94G= (p.Val32=) c.364G= (p.Val122=) c.655G= (p.Val219=) | |
5 | g.161331116C>G | CA362175501 | GABRB2 | c.844G>C (p.Val282Leu) n.926G>C c.*303G>C (n.*303G>C) c.592G>C (p.Val198Leu) c.94G>C (p.Val32Leu) c.364G>C (p.Val122Leu) c.655G>C (p.Val219Leu) | gnomAD v4 |
5 | g.161331116C>T | CA362175500 | GABRB2 | c.844G>A (p.Val282Ile) n.926G>A c.*303G>A (n.*303G>A) c.592G>A (p.Val198Ile) c.94G>A (p.Val32Ile) c.364G>A (p.Val122Ile) c.655G>A (p.Val219Ile) | |
5 | g.161331117A>C | CA447691620 | GABRB2 | c.843T>G (p.Thr281=) n.925T>G c.*302T>G (n.*302T>G) c.591T>G (p.Thr197=) c.93T>G (p.Thr31=) c.363T>G (p.Thr121=) c.654T>G (p.Thr218=) | |
5 | g.161331117A>G | CA447691621 | GABRB2 | c.843T>C (p.Thr281=) n.925T>C c.*302T>C (n.*302T>C) c.591T>C (p.Thr197=) c.93T>C (p.Thr31=) c.363T>C (p.Thr121=) c.654T>C (p.Thr218=) | |
5 | g.161331117A>T | CA447691622 | GABRB2 | c.843T>A (p.Thr281=) n.925T>A c.*302T>A (n.*302T>A) c.591T>A (p.Thr197=) c.93T>A (p.Thr31=) c.363T>A (p.Thr121=) c.654T>A (p.Thr218=) | |
5 | g.161331118G>A | CA362175502 | GABRB2 | c.842C>T (p.Thr281Ile) n.924C>T c.*301C>T (n.*301C>T) c.590C>T (p.Thr197Ile) c.92C>T (p.Thr31Ile) c.362C>T (p.Thr121Ile) c.653C>T (p.Thr218Ile) | |
5 | g.161331118G>C | CA362175503 | GABRB2 | c.842C>G (p.Thr281Ser) n.924C>G c.*301C>G (n.*301C>G) c.590C>G (p.Thr197Ser) c.92C>G (p.Thr31Ser) c.362C>G (p.Thr121Ser) c.653C>G (p.Thr218Ser) | ClinVar dbSNP |
5 | g.161331118G= | CA1595983895 | GABRB2 | c.842C= (p.Thr281=) n.924C= c.*301C= (n.*301C=) c.590C= (p.Thr197=) c.92C= (p.Thr31=) c.362C= (p.Thr121=) c.653C= (p.Thr218=) | |
5 | g.161331118G>T | CA362175504 | GABRB2 | c.842C>A (p.Thr281Asn) n.924C>A c.*301C>A (n.*301C>A) c.590C>A (p.Thr197Asn) c.92C>A (p.Thr31Asn) c.362C>A (p.Thr121Asn) c.653C>A (p.Thr218Asn) | |
5 | g.161331119T>A | CA362175505 | GABRB2 | c.841A>T (p.Thr281Ser) n.923A>T c.*300A>T (n.*300A>T) c.589A>T (p.Thr197Ser) c.91A>T (p.Thr31Ser) c.361A>T (p.Thr121Ser) c.652A>T (p.Thr218Ser) | |
5 | g.161331119T>C | CA362175506 | GABRB2 | c.841A>G (p.Thr281Ala) n.923A>G c.*300A>G (n.*300A>G) c.589A>G (p.Thr197Ala) c.91A>G (p.Thr31Ala) c.361A>G (p.Thr121Ala) c.652A>G (p.Thr218Ala) | ClinVar gnomAD v4 |
5 | g.161331119T>G | CA362175507 | GABRB2 | c.841A>C (p.Thr281Pro) n.923A>C c.*300A>C (n.*300A>C) c.589A>C (p.Thr197Pro) c.91A>C (p.Thr31Pro) c.361A>C (p.Thr121Pro) c.652A>C (p.Thr218Pro) | |
5 | g.161331120T>A | CA447604968 | GABRB2 | c.840A>T (p.Thr280=) n.922A>T c.*299A>T (n.*299A>T) c.588A>T (p.Thr196=) c.90A>T (p.Thr30=) c.360A>T (p.Thr120=) c.651A>T (p.Thr217=) | |
5 | g.161331120T>C | CA447604969 | GABRB2 | c.840A>G (p.Thr280=) n.922A>G c.*299A>G (n.*299A>G) c.588A>G (p.Thr196=) c.90A>G (p.Thr30=) c.360A>G (p.Thr120=) c.651A>G (p.Thr217=) | |
5 | g.161331120T>G | CA447604970 | GABRB2 | c.840A>C (p.Thr280=) n.922A>C c.*299A>C (n.*299A>C) c.588A>C (p.Thr196=) c.90A>C (p.Thr30=) c.360A>C (p.Thr120=) c.651A>C (p.Thr217=) | |
5 | g.161331122_161331130del | CA2676314817 | GABRB2 | c.833-1_840del n.915-1_922del c.*292-1_*299del c.581-1_588del c.83-1_90del c.353-1_360del c.644-1_651del | gnomAD v4 |
5 | g.161331121G>A | CA362175508 | GABRB2 | c.839C>T (p.Thr280Ile) n.921C>T c.*298C>T (n.*298C>T) c.587C>T (p.Thr196Ile) c.89C>T (p.Thr30Ile) c.359C>T (p.Thr120Ile) c.650C>T (p.Thr217Ile) | |
5 | g.161331121G>C | CA362175509 | GABRB2 | c.839C>G (p.Thr280Arg) n.921C>G c.*298C>G (n.*298C>G) c.587C>G (p.Thr196Arg) c.89C>G (p.Thr30Arg) c.359C>G (p.Thr120Arg) c.650C>G (p.Thr217Arg) | |
5 | g.161331121G>T | CA362175510 | GABRB2 | c.839C>A (p.Thr280Lys) n.921C>A c.*298C>A (n.*298C>A) c.587C>A (p.Thr196Lys) c.89C>A (p.Thr30Lys) c.359C>A (p.Thr120Lys) c.650C>A (p.Thr217Lys) | |
5 | g.161331121_161331130del | CA2676314818 | GABRB2 | c.833-3_839del n.915-3_921del c.*292-3_*298del c.581-3_587del c.83-3_89del c.353-3_359del c.644-3_650del | gnomAD v4 |
5 | g.161331122T>A | CA362175513 | GABRB2 | c.838A>T (p.Thr280Ser) n.920A>T c.*297A>T (n.*297A>T) c.586A>T (p.Thr196Ser) c.88A>T (p.Thr30Ser) c.358A>T (p.Thr120Ser) c.649A>T (p.Thr217Ser) | gnomAD v4 |
5 | g.161331122T>C | CA362175512 | GABRB2 | c.838A>G (p.Thr280Ala) n.920A>G c.*297A>G (n.*297A>G) c.586A>G (p.Thr196Ala) c.88A>G (p.Thr30Ala) c.358A>G (p.Thr120Ala) c.649A>G (p.Thr217Ala) | ClinVar dbSNP |
5 | g.161331122T>G | CA362175511 | GABRB2 | c.838A>C (p.Thr280Pro) n.920A>C c.*297A>C (n.*297A>C) c.586A>C (p.Thr196Pro) c.88A>C (p.Thr30Pro) c.358A>C (p.Thr120Pro) c.649A>C (p.Thr217Pro) | |
5 | g.161331123G>A | CA447604971 | GABRB2 | c.837C>T (p.Ile279=) n.919C>T c.*296C>T (n.*296C>T) c.585C>T (p.Ile195=) c.87C>T (p.Ile29=) c.357C>T (p.Ile119=) c.648C>T (p.Ile216=) | gnomAD v4 |
5 | g.161331123G>C | CA362175514 | GABRB2 | c.837C>G (p.Ile279Met) n.919C>G c.*296C>G (n.*296C>G) c.585C>G (p.Ile195Met) c.87C>G (p.Ile29Met) c.357C>G (p.Ile119Met) c.648C>G (p.Ile216Met) | |
5 | g.161331123G>T | CA447604972 | GABRB2 | c.837C>A (p.Ile279=) n.919C>A c.*296C>A (n.*296C>A) c.585C>A (p.Ile195=) c.87C>A (p.Ile29=) c.357C>A (p.Ile119=) c.648C>A (p.Ile216=) | |
5 | g.161331124A>C | CA362175515 | GABRB2 | c.836T>G (p.Ile279Ser) n.918T>G c.*295T>G (n.*295T>G) c.584T>G (p.Ile195Ser) c.86T>G (p.Ile29Ser) c.356T>G (p.Ile119Ser) c.647T>G (p.Ile216Ser) | |
5 | g.161331124A>G | CA362175516 | GABRB2 | c.836T>C (p.Ile279Thr) n.918T>C c.*295T>C (n.*295T>C) c.584T>C (p.Ile195Thr) c.86T>C (p.Ile29Thr) c.356T>C (p.Ile119Thr) c.647T>C (p.Ile216Thr) | |
5 | g.161331124A>T | CA362175517 | GABRB2 | c.836T>A (p.Ile279Asn) n.918T>A c.*295T>A (n.*295T>A) c.584T>A (p.Ile195Asn) c.86T>A (p.Ile29Asn) c.356T>A (p.Ile119Asn) c.647T>A (p.Ile216Asn) | |
5 | g.161331125T>A | CA362175518 | GABRB2 | c.835A>T (p.Ile279Phe) n.917A>T c.*294A>T (n.*294A>T) c.583A>T (p.Ile195Phe) c.85A>T (p.Ile29Phe) c.355A>T (p.Ile119Phe) c.646A>T (p.Ile216Phe) | gnomAD v4 |
5 | g.161331125T>C | CA362175519 | GABRB2 | c.835A>G (p.Ile279Val) n.917A>G c.*294A>G (n.*294A>G) c.583A>G (p.Ile195Val) c.85A>G (p.Ile29Val) c.355A>G (p.Ile119Val) c.646A>G (p.Ile216Val) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.161331125T>G | CA362175520 | GABRB2 | c.835A>C (p.Ile279Leu) n.917A>C c.*294A>C (n.*294A>C) c.583A>C (p.Ile195Leu) c.85A>C (p.Ile29Leu) c.355A>C (p.Ile119Leu) c.646A>C (p.Ile216Leu) | |
5 | g.161331125T= | CA1595983896 | GABRB2 | c.835A= (p.Ile279=) n.917A= c.*294A= (n.*294A=) c.583A= (p.Ile195=) c.85A= (p.Ile29=) c.355A= (p.Ile119=) c.646A= (p.Ile216=) | |
5 | g.161331125_161331129del | CA2769169099 | GABRB2 | c.833-2_835del n.915-2_917del c.*292-2_*294del c.581-2_583del c.83-2_85del c.353-2_355del c.644-2_646del | |
5 | g.161331125_161331130del | CA2676314819 | GABRB2 | c.833-3_835del n.915-3_917del c.*292-3_*294del c.581-3_583del c.83-3_85del c.353-3_355del c.644-3_646del | gnomAD v4 |
5 | g.161331126T>A | CA447604973 | GABRB2 | c.834A>T (p.Gly278=) n.916A>T c.*293A>T (n.*293A>T) c.582A>T (p.Gly194=) c.84A>T (p.Gly28=) c.354A>T (p.Gly118=) c.645A>T (p.Gly215=) | gnomAD v4 |
5 | g.161331126T>C | CA447604974 | GABRB2 | c.834A>G (p.Gly278=) n.916A>G c.*293A>G (n.*293A>G) c.582A>G (p.Gly194=) c.84A>G (p.Gly28=) c.354A>G (p.Gly118=) c.645A>G (p.Gly215=) | |
5 | g.161331126T>G | CA447604975 | GABRB2 | c.834A>C (p.Gly278=) n.916A>C c.*293A>C (n.*293A>C) c.582A>C (p.Gly194=) c.84A>C (p.Gly28=) c.354A>C (p.Gly118=) c.645A>C (p.Gly215=) | dbSNP |
5 | g.161331126T= | CA1595983897 | GABRB2 | c.834A= (p.Gly278=) n.916A= c.*293A= (n.*293A=) c.582A= (p.Gly194=) c.84A= (p.Gly28=) c.354A= (p.Gly118=) c.645A= (p.Gly215=) | |
5 | g.161331126_161331130del | CA2676314820 | GABRB2 | c.833-3_834del n.915-3_916del c.*292-3_*293del c.581-3_582del c.83-3_84del c.353-3_354del c.644-3_645del | gnomAD v4 |
5 | g.161331127C>A | CA362175521 | GABRB2 | c.833G>T (p.Gly278Val) n.915G>T c.*292G>T (n.*292G>T) c.581G>T (p.Gly194Val) c.83G>T (p.Gly28Val) c.353G>T (p.Gly118Val) c.644G>T (p.Gly215Val) | gnomAD v4 |
5 | g.161331127C>G | CA362175522 | GABRB2 | c.833G>C (p.Gly278Ala) n.915G>C c.*292G>C (n.*292G>C) c.581G>C (p.Gly194Ala) c.83G>C (p.Gly28Ala) c.353G>C (p.Gly118Ala) c.644G>C (p.Gly215Ala) | |
5 | g.161331127C>T | CA362175523 | GABRB2 | c.833G>A (p.Gly278Glu) n.915G>A c.*292G>A (n.*292G>A) c.581G>A (p.Gly194Glu) c.83G>A (p.Gly28Glu) c.353G>A (p.Gly118Glu) c.644G>A (p.Gly215Glu) | |
5 | g.161331127_161331130del | CA2676314821 | GABRB2 | c.833-3_833del n.915-3_915del c.*292-3_*292del c.581-3_581del c.83-3_83del c.353-3_353del c.644-3_644del | gnomAD v4 |
5 | g.161331128C>A | CA362175524 | GABRB2 | c.833-1G>T (n.833-1G>T) n.915-1G>T c.*292-1G>T (n.*292-1G>T) c.581-1G>T (n.581-1G>T) c.83-1G>T (n.83-1G>T) c.353-1G>T (n.353-1G>T) c.644-1G>T (n.644-1G>T) | gnomAD v4 |
5 | g.161331128C>G | CA362175525 | GABRB2 | c.833-1G>C (n.833-1G>C) n.915-1G>C c.*292-1G>C (n.*292-1G>C) c.581-1G>C (n.581-1G>C) c.83-1G>C (n.83-1G>C) c.353-1G>C (n.353-1G>C) c.644-1G>C (n.644-1G>C) | |
5 | g.161331128C>T | CA362175526 | GABRB2 | c.833-1G>A (n.833-1G>A) n.915-1G>A c.*292-1G>A (n.*292-1G>A) c.581-1G>A (n.581-1G>A) c.83-1G>A (n.83-1G>A) c.353-1G>A (n.353-1G>A) c.644-1G>A (n.644-1G>A) |