Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.139961977_139961995delinsGCGTGCAAGACTTTGACAT | CA1747341033 | TBXAS1 | c.878_896delinsGCGTGCAAGACTTTGACAT (p.Gly293=) c.*667_*685delinsGCGTGCAAGACTTTGACAT (n.*667_*685delinsGCGTGCAAGACTTTGACAT) c.1016_1034delinsGCGTGCAAGACTTTGACAT (p.Gly339=) c.881_899delinsGCGTGCAAGACTTTGACAT (p.Gly294=) c.1019_1037delinsGCGTGCAAGACTTTGACAT (p.Gly340=) c.677_695delinsGCGTGCAAGACTTTGACAT (p.Gly226=) n.849_867delinsGCGTGCAAGACTTTGACAT n.361_379delinsGCGTGCAAGACTTTGACAT n.243_261delinsGCGTGCAAGACTTTGACAT c.821_839delinsGCGTGCAAGACTTTGACAT (p.Gly274=) c.-4294966151_-4294966133delinsGCGTGCAAGACTTTGACAT c.695_713delinsGCGTGCAAGACTTTGACAT (p.Gly232=) c.623_641delinsGCGTGCAAGACTTTGACAT (p.Gly208=) | |
7 | g.139961981_139961998del | CA1747341035 | TBXAS1 | c.882_899del (p.Gln295_Val300del) c.*671_*688del (n.*671_*688del) c.1020_1037del (p.Gln341_Val346del) c.885_902del (p.Gln296_Val301del) c.1023_1040del (p.Gln342_Val347del) c.681_698del (p.Gln228_Val233del) n.853_870del n.365_382del n.247_264del c.825_842del (p.Gln276_Val281del) c.-4294966147_-4294966130del c.699_716del (p.Gln234_Val239del) c.627_644del (p.Gln210_Val215del) | dbSNP |
7 | g.139961990_139961996delinsTGACATC | CA1747341039 | TBXAS1 | c.891_897delinsTGACATC (p.Phe297=) c.*680_*686delinsTGACATC (n.*680_*686delinsTGACATC) c.1029_1035delinsTGACATC (p.Phe343=) c.894_900delinsTGACATC (p.Phe298=) c.1032_1038delinsTGACATC (p.Phe344=) c.690_696delinsTGACATC (p.Phe230=) n.862_868delinsTGACATC n.374_380delinsTGACATC n.256_262delinsTGACATC c.834_840delinsTGACATC (p.Phe278=) c.-4294966138_-4294966132delinsTGACATC c.708_714delinsTGACATC (p.Phe236=) c.636_642delinsTGACATC (p.Phe212=) | |
7 | g.139961991G>A | CA369584309 | TBXAS1 | c.892G>A (p.Asp298Asn) c.*681G>A (n.*681G>A) c.1030G>A (p.Asp344Asn) c.895G>A (p.Asp299Asn) c.1033G>A (p.Asp345Asn) c.691G>A (p.Asp231Asn) n.863G>A n.375G>A n.257G>A c.835G>A (p.Asp279Asn) c.-4294966137G>A c.709G>A (p.Asp237Asn) c.637G>A (p.Asp213Asn) | |
7 | g.139961991G>C | CA369584313 | TBXAS1 | c.892G>C (p.Asp298His) c.*681G>C (n.*681G>C) c.1030G>C (p.Asp344His) c.895G>C (p.Asp299His) c.1033G>C (p.Asp345His) c.691G>C (p.Asp231His) n.863G>C n.375G>C n.257G>C c.835G>C (p.Asp279His) c.-4294966137G>C c.709G>C (p.Asp237His) c.637G>C (p.Asp213His) | |
7 | g.139961991G>T | CA369584316 | TBXAS1 | c.892G>T (p.Asp298Tyr) c.*681G>T (n.*681G>T) c.1030G>T (p.Asp344Tyr) c.895G>T (p.Asp299Tyr) c.1033G>T (p.Asp345Tyr) c.691G>T (p.Asp231Tyr) n.863G>T n.375G>T n.257G>T c.835G>T (p.Asp279Tyr) c.-4294966137G>T c.709G>T (p.Asp237Tyr) c.637G>T (p.Asp213Tyr) | |
7 | g.139961992_139961997del | CA16042663 | TBXAS1 | c.893_898del (p.Asp298_Ile299del) c.*682_*687del (n.*682_*687del) c.1031_1036del (p.Asp344_Ile345del) c.896_901del (p.Asp299_Ile300del) c.1034_1039del (p.Asp345_Ile346del) c.692_697del (p.Asp231_Ile232del) n.864_869del n.376_381del n.258_263del c.836_841del (p.Asp279_Ile280del) c.-4294966136_-4294966131del c.710_715del (p.Asp237_Ile238del) c.638_643del (p.Asp213_Ile214del) | ClinVar dbSNP |
7 | g.139961992A>C | CA369584321 | TBXAS1 | c.893A>C (p.Asp298Ala) c.*682A>C (n.*682A>C) c.1031A>C (p.Asp344Ala) c.896A>C (p.Asp299Ala) c.1034A>C (p.Asp345Ala) c.692A>C (p.Asp231Ala) n.864A>C n.376A>C n.258A>C c.836A>C (p.Asp279Ala) c.-4294966136A>C c.710A>C (p.Asp237Ala) c.638A>C (p.Asp213Ala) | |
7 | g.139961992A>G | CA369584324 | TBXAS1 | c.893A>G (p.Asp298Gly) c.*682A>G (n.*682A>G) c.1031A>G (p.Asp344Gly) c.896A>G (p.Asp299Gly) c.1034A>G (p.Asp345Gly) c.692A>G (p.Asp231Gly) n.864A>G n.376A>G n.258A>G c.836A>G (p.Asp279Gly) c.-4294966136A>G c.710A>G (p.Asp237Gly) c.638A>G (p.Asp213Gly) | |
7 | g.139961992A>T | CA369584327 | TBXAS1 | c.893A>T (p.Asp298Val) c.*682A>T (n.*682A>T) c.1031A>T (p.Asp344Val) c.896A>T (p.Asp299Val) c.1034A>T (p.Asp345Val) c.692A>T (p.Asp231Val) n.864A>T n.376A>T n.258A>T c.836A>T (p.Asp279Val) c.-4294966136A>T c.710A>T (p.Asp237Val) c.638A>T (p.Asp213Val) | |
7 | g.139961993C>A | CA369584333 | TBXAS1 | c.894C>A (p.Asp298Glu) c.*683C>A (n.*683C>A) c.1032C>A (p.Asp344Glu) c.897C>A (p.Asp299Glu) c.1035C>A (p.Asp345Glu) c.693C>A (p.Asp231Glu) n.865C>A n.377C>A n.259C>A c.837C>A (p.Asp279Glu) c.-4294966135C>A c.711C>A (p.Asp237Glu) c.639C>A (p.Asp213Glu) | |
7 | g.139961993C= | CA1747341040 | TBXAS1 | c.894C= (p.Asp298=) c.*683C= (n.*683C=) c.1032C= (p.Asp344=) c.897C= (p.Asp299=) c.1035C= (p.Asp345=) c.693C= (p.Asp231=) n.865C= n.377C= n.259C= c.837C= (p.Asp279=) c.-4294966135C= c.711C= (p.Asp237=) c.639C= (p.Asp213=) | |
7 | g.139961993C>G | CA369584336 | TBXAS1 | c.894C>G (p.Asp298Glu) c.*683C>G (n.*683C>G) c.1032C>G (p.Asp344Glu) c.897C>G (p.Asp299Glu) c.1035C>G (p.Asp345Glu) c.693C>G (p.Asp231Glu) n.865C>G n.377C>G n.259C>G c.837C>G (p.Asp279Glu) c.-4294966135C>G c.711C>G (p.Asp237Glu) c.639C>G (p.Asp213Glu) | |
7 | g.139961993C>T | CA4511843 | TBXAS1 | c.894C>T (p.Asp298=) c.*683C>T (n.*683C>T) c.1032C>T (p.Asp344=) c.897C>T (p.Asp299=) c.1035C>T (p.Asp345=) c.693C>T (p.Asp231=) n.865C>T n.377C>T n.259C>T c.837C>T (p.Asp279=) c.-4294966135C>T c.711C>T (p.Asp237=) c.639C>T (p.Asp213=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.139961994A= | CA1747341041 | TBXAS1 | c.895A= (p.Ile299=) c.*684A= (n.*684A=) c.1033A= (p.Ile345=) c.898A= (p.Ile300=) c.1036A= (p.Ile346=) c.694A= (p.Ile232=) n.866A= n.378A= n.260A= c.838A= (p.Ile280=) c.-4294966134A= c.712A= (p.Ile238=) c.640A= (p.Ile214=) | |
7 | g.139961994A>C | CA369584344 | TBXAS1 | c.895A>C (p.Ile299Leu) c.*684A>C (n.*684A>C) c.1033A>C (p.Ile345Leu) c.898A>C (p.Ile300Leu) c.1036A>C (p.Ile346Leu) c.694A>C (p.Ile232Leu) n.866A>C n.378A>C n.260A>C c.838A>C (p.Ile280Leu) c.-4294966134A>C c.712A>C (p.Ile238Leu) c.640A>C (p.Ile214Leu) | |
7 | g.139961994A>G | CA369584346 | TBXAS1 | c.895A>G (p.Ile299Val) c.*684A>G (n.*684A>G) c.1033A>G (p.Ile345Val) c.898A>G (p.Ile300Val) c.1036A>G (p.Ile346Val) c.694A>G (p.Ile232Val) n.866A>G n.378A>G n.260A>G c.838A>G (p.Ile280Val) c.-4294966134A>G c.712A>G (p.Ile238Val) c.640A>G (p.Ile214Val) | dbSNP gnomAD v4 |
7 | g.139961994A>T | CA369584351 | TBXAS1 | c.895A>T (p.Ile299Phe) c.*684A>T (n.*684A>T) c.1033A>T (p.Ile345Phe) c.898A>T (p.Ile300Phe) c.1036A>T (p.Ile346Phe) c.694A>T (p.Ile232Phe) n.866A>T n.378A>T n.260A>T c.838A>T (p.Ile280Phe) c.-4294966134A>T c.712A>T (p.Ile238Phe) c.640A>T (p.Ile214Phe) | |
7 | g.139961995T>A | CA369584363 | TBXAS1 | c.896T>A (p.Ile299Asn) c.*685T>A (n.*685T>A) c.1034T>A (p.Ile345Asn) c.899T>A (p.Ile300Asn) c.1037T>A (p.Ile346Asn) c.695T>A (p.Ile232Asn) n.867T>A n.379T>A n.261T>A c.839T>A (p.Ile280Asn) c.-4294966133T>A c.713T>A (p.Ile238Asn) c.641T>A (p.Ile214Asn) | |
7 | g.139961995T>C | CA369584356 | TBXAS1 | c.896T>C (p.Ile299Thr) c.*685T>C (n.*685T>C) c.1034T>C (p.Ile345Thr) c.899T>C (p.Ile300Thr) c.1037T>C (p.Ile346Thr) c.695T>C (p.Ile232Thr) n.867T>C n.379T>C n.261T>C c.839T>C (p.Ile280Thr) c.-4294966133T>C c.713T>C (p.Ile238Thr) c.641T>C (p.Ile214Thr) | |
7 | g.139961995T>G | CA369584360 | TBXAS1 | c.896T>G (p.Ile299Ser) c.*685T>G (n.*685T>G) c.1034T>G (p.Ile345Ser) c.899T>G (p.Ile300Ser) c.1037T>G (p.Ile346Ser) c.695T>G (p.Ile232Ser) n.867T>G n.379T>G n.261T>G c.839T>G (p.Ile280Ser) c.-4294966133T>G c.713T>G (p.Ile238Ser) c.641T>G (p.Ile214Ser) | |
7 | g.139961996C>A | CA458115383 | TBXAS1 | c.897C>A (p.Ile299=) c.*686C>A (n.*686C>A) c.1035C>A (p.Ile345=) c.900C>A (p.Ile300=) c.1038C>A (p.Ile346=) c.696C>A (p.Ile232=) n.868C>A n.380C>A n.262C>A c.840C>A (p.Ile280=) c.-4294966132C>A c.714C>A (p.Ile238=) c.642C>A (p.Ile214=) | |
7 | g.139961996C= | CA1747341042 | TBXAS1 | c.897C= (p.Ile299=) c.*686C= (n.*686C=) c.1035C= (p.Ile345=) c.900C= (p.Ile300=) c.1038C= (p.Ile346=) c.696C= (p.Ile232=) n.868C= n.380C= n.262C= c.840C= (p.Ile280=) c.-4294966132C= c.714C= (p.Ile238=) c.642C= (p.Ile214=) | |
7 | g.139961996C>G | CA369584366 | TBXAS1 | c.897C>G (p.Ile299Met) c.*686C>G (n.*686C>G) c.1035C>G (p.Ile345Met) c.900C>G (p.Ile300Met) c.1038C>G (p.Ile346Met) c.696C>G (p.Ile232Met) n.868C>G n.380C>G n.262C>G c.840C>G (p.Ile280Met) c.-4294966132C>G c.714C>G (p.Ile238Met) c.642C>G (p.Ile214Met) | |
7 | g.139961996C>T | CA458115382 | TBXAS1 | c.897C>T (p.Ile299=) c.*686C>T (n.*686C>T) c.1035C>T (p.Ile345=) c.900C>T (p.Ile300=) c.1038C>T (p.Ile346=) c.696C>T (p.Ile232=) n.868C>T n.380C>T n.262C>T c.840C>T (p.Ile280=) c.-4294966132C>T c.714C>T (p.Ile238=) c.642C>T (p.Ile214=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
7 | g.139961997G>A | CA4511844 | TBXAS1 | c.898G>A (p.Val300Ile) c.*687G>A (n.*687G>A) c.1036G>A (p.Val346Ile) c.901G>A (p.Val301Ile) c.1039G>A (p.Val347Ile) c.697G>A (p.Val233Ile) n.869G>A n.381G>A n.263G>A c.841G>A (p.Val281Ile) c.-4294966131G>A c.715G>A (p.Val239Ile) c.643G>A (p.Val215Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.139961997G>C | CA369584374 | TBXAS1 | c.898G>C (p.Val300Leu) c.*687G>C (n.*687G>C) c.1036G>C (p.Val346Leu) c.901G>C (p.Val301Leu) c.1039G>C (p.Val347Leu) c.697G>C (p.Val233Leu) n.869G>C n.381G>C n.263G>C c.841G>C (p.Val281Leu) c.-4294966131G>C c.715G>C (p.Val239Leu) c.643G>C (p.Val215Leu) | |
7 | g.139961997G= | CA1747341043 | TBXAS1 | c.898G= (p.Val300=) c.*687G= (n.*687G=) c.1036G= (p.Val346=) c.901G= (p.Val301=) c.1039G= (p.Val347=) c.697G= (p.Val233=) n.869G= n.381G= n.263G= c.841G= (p.Val281=) c.-4294966131G= c.715G= (p.Val239=) c.643G= (p.Val215=) | |
7 | g.139961997G>T | CA369584377 | TBXAS1 | c.898G>T (p.Val300Phe) c.*687G>T (n.*687G>T) c.1036G>T (p.Val346Phe) c.901G>T (p.Val301Phe) c.1039G>T (p.Val347Phe) c.697G>T (p.Val233Phe) n.869G>T n.381G>T n.263G>T c.841G>T (p.Val281Phe) c.-4294966131G>T c.715G>T (p.Val239Phe) c.643G>T (p.Val215Phe) | |
7 | g.139961998T>A | CA369584381 | TBXAS1 | c.899T>A (p.Val300Asp) c.*688T>A (n.*688T>A) c.1037T>A (p.Val346Asp) c.902T>A (p.Val301Asp) c.1040T>A (p.Val347Asp) c.698T>A (p.Val233Asp) n.870T>A n.382T>A n.264T>A c.842T>A (p.Val281Asp) c.-4294966130T>A c.716T>A (p.Val239Asp) c.644T>A (p.Val215Asp) | gnomAD v4 |
7 | g.139961998T>C | CA369584384 | TBXAS1 | c.899T>C (p.Val300Ala) c.*688T>C (n.*688T>C) c.1037T>C (p.Val346Ala) c.902T>C (p.Val301Ala) c.1040T>C (p.Val347Ala) c.698T>C (p.Val233Ala) n.870T>C n.382T>C n.264T>C c.842T>C (p.Val281Ala) c.-4294966130T>C c.716T>C (p.Val239Ala) c.644T>C (p.Val215Ala) | |
7 | g.139961998T>G | CA369584387 | TBXAS1 | c.899T>G (p.Val300Gly) c.*688T>G (n.*688T>G) c.1037T>G (p.Val346Gly) c.902T>G (p.Val301Gly) c.1040T>G (p.Val347Gly) c.698T>G (p.Val233Gly) n.870T>G n.382T>G n.264T>G c.842T>G (p.Val281Gly) c.-4294966130T>G c.716T>G (p.Val239Gly) c.644T>G (p.Val215Gly) | |
7 | g.139961999C>A | CA458115387 | TBXAS1 | c.900C>A (p.Val300=) c.*689C>A (n.*689C>A) c.1038C>A (p.Val346=) c.903C>A (p.Val301=) c.1041C>A (p.Val347=) c.699C>A (p.Val233=) n.871C>A n.383C>A n.265C>A c.843C>A (p.Val281=) c.-4294966129C>A c.717C>A (p.Val239=) c.645C>A (p.Val215=) | |
7 | g.139961999C= | CA1747341045 | TBXAS1 | c.900C= (p.Val300=) c.*689C= (n.*689C=) c.1038C= (p.Val346=) c.903C= (p.Val301=) c.1041C= (p.Val347=) c.699C= (p.Val233=) n.871C= n.383C= n.265C= c.843C= (p.Val281=) c.-4294966129C= c.717C= (p.Val239=) c.645C= (p.Val215=) | |
7 | g.139961999C>G | CA458115388 | TBXAS1 | c.900C>G (p.Val300=) c.*689C>G (n.*689C>G) c.1038C>G (p.Val346=) c.903C>G (p.Val301=) c.1041C>G (p.Val347=) c.699C>G (p.Val233=) n.871C>G n.383C>G n.265C>G c.843C>G (p.Val281=) c.-4294966129C>G c.717C>G (p.Val239=) c.645C>G (p.Val215=) | |
7 | g.139961999C>T | CA458115389 | TBXAS1 | c.900C>T (p.Val300=) c.*689C>T (n.*689C>T) c.1038C>T (p.Val346=) c.903C>T (p.Val301=) c.1041C>T (p.Val347=) c.699C>T (p.Val233=) n.871C>T n.383C>T n.265C>T c.843C>T (p.Val281=) c.-4294966129C>T c.717C>T (p.Val239=) c.645C>T (p.Val215=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.139961999_139962001delinsCAG | CA1747341044 | TBXAS1 | c.900_902delinsCAG (p.Val300=) c.*689_*691delinsCAG (n.*689_*691delinsCAG) c.1038_1040delinsCAG (p.Val346=) c.903_905delinsCAG (p.Val301=) c.1041_1043delinsCAG (p.Val347=) c.699_701delinsCAG (p.Val233=) n.871_873delinsCAG n.383_385delinsCAG n.265_267delinsCAG c.843_845delinsCAG (p.Val281=) c.-4294966129_-4294966127delinsCAG c.717_719delinsCAG (p.Val239=) c.645_647delinsCAG (p.Val215=) | |
7 | g.139962000A>C | CA458115390 | TBXAS1 | c.901A>C (p.Arg301=) c.*690A>C (n.*690A>C) c.1039A>C (p.Arg347=) c.904A>C (p.Arg302=) c.1042A>C (p.Arg348=) c.700A>C (p.Arg234=) n.872A>C n.384A>C n.266A>C c.844A>C (p.Arg282=) c.-4294966128A>C c.718A>C (p.Arg240=) c.646A>C (p.Arg216=) | gnomAD v4 |
7 | g.139962000A>G | CA369584391 | TBXAS1 | c.901A>G (p.Arg301Gly) c.*690A>G (n.*690A>G) c.1039A>G (p.Arg347Gly) c.904A>G (p.Arg302Gly) c.1042A>G (p.Arg348Gly) c.700A>G (p.Arg234Gly) n.872A>G n.384A>G n.266A>G c.844A>G (p.Arg282Gly) c.-4294966128A>G c.718A>G (p.Arg240Gly) c.646A>G (p.Arg216Gly) | |
7 | g.139962000A>T | CA369584401 | TBXAS1 | c.901A>T (p.Arg301Ter) c.*690A>T (n.*690A>T) c.1039A>T (p.Arg347Ter) c.904A>T (p.Arg302Ter) c.1042A>T (p.Arg348Ter) c.700A>T (p.Arg234Ter) n.872A>T n.384A>T n.266A>T c.844A>T (p.Arg282Ter) c.-4294966128A>T c.718A>T (p.Arg240Ter) c.646A>T (p.Arg216Ter) | |
7 | g.139962003_139962004del | CA834161086 | TBXAS1 | c.904_905del (p.Asp302ArgfsTer28) c.*693_*694del (n.*693_*694del) c.1042_1043del (p.Asp348ArgfsTer28) c.907_908del (p.Asp303ArgfsTer28) c.1045_1046del (p.Asp349ArgfsTer28) c.703_704del (p.Asp235ArgfsTer28) n.875_876del n.387_388del n.269_270del c.847_848del (p.Asp283ArgfsTer28) c.-4294966125_-4294966124del c.721_722del (p.Asp241ArgfsTer28) c.649_650del (p.Asp217ArgfsTer28) | dbSNP gnomAD v4 |
7 | g.139962001G>A | CA369584405 | TBXAS1 | c.902G>A (p.Arg301Lys) c.*691G>A (n.*691G>A) c.1040G>A (p.Arg347Lys) c.905G>A (p.Arg302Lys) c.1043G>A (p.Arg348Lys) c.701G>A (p.Arg234Lys) n.873G>A n.385G>A n.267G>A c.845G>A (p.Arg282Lys) c.-4294966127G>A c.719G>A (p.Arg240Lys) c.647G>A (p.Arg216Lys) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.139962001G>C | CA369584409 | TBXAS1 | c.902G>C (p.Arg301Thr) c.*691G>C (n.*691G>C) c.1040G>C (p.Arg347Thr) c.905G>C (p.Arg302Thr) c.1043G>C (p.Arg348Thr) c.701G>C (p.Arg234Thr) n.873G>C n.385G>C n.267G>C c.845G>C (p.Arg282Thr) c.-4294966127G>C c.719G>C (p.Arg240Thr) c.647G>C (p.Arg216Thr) | |
7 | g.139962001G= | CA1747341046 | TBXAS1 | c.902G= (p.Arg301=) c.*691G= (n.*691G=) c.1040G= (p.Arg347=) c.905G= (p.Arg302=) c.1043G= (p.Arg348=) c.701G= (p.Arg234=) n.873G= n.385G= n.267G= c.845G= (p.Arg282=) c.-4294966127G= c.719G= (p.Arg240=) c.647G= (p.Arg216=) | |
7 | g.139962001G>T | CA369584412 | TBXAS1 | c.902G>T (p.Arg301Ile) c.*691G>T (n.*691G>T) c.1040G>T (p.Arg347Ile) c.905G>T (p.Arg302Ile) c.1043G>T (p.Arg348Ile) c.701G>T (p.Arg234Ile) n.873G>T n.385G>T n.267G>T c.845G>T (p.Arg282Ile) c.-4294966127G>T c.719G>T (p.Arg240Ile) c.647G>T (p.Arg216Ile) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.139962002A>C | CA369584416 | TBXAS1 | c.903A>C (p.Arg301Ser) c.*692A>C (n.*692A>C) c.1041A>C (p.Arg347Ser) c.906A>C (p.Arg302Ser) c.1044A>C (p.Arg348Ser) c.702A>C (p.Arg234Ser) n.874A>C n.386A>C n.268A>C c.846A>C (p.Arg282Ser) c.-4294966126A>C c.720A>C (p.Arg240Ser) c.648A>C (p.Arg216Ser) | |
7 | g.139962002A>G | CA458115392 | TBXAS1 | c.903A>G (p.Arg301=) c.*692A>G (n.*692A>G) c.1041A>G (p.Arg347=) c.906A>G (p.Arg302=) c.1044A>G (p.Arg348=) c.702A>G (p.Arg234=) n.874A>G n.386A>G n.268A>G c.846A>G (p.Arg282=) c.-4294966126A>G c.720A>G (p.Arg240=) c.648A>G (p.Arg216=) | |
7 | g.139962002A>T | CA369584417 | TBXAS1 | c.903A>T (p.Arg301Ser) c.*692A>T (n.*692A>T) c.1041A>T (p.Arg347Ser) c.906A>T (p.Arg302Ser) c.1044A>T (p.Arg348Ser) c.702A>T (p.Arg234Ser) n.874A>T n.386A>T n.268A>T c.846A>T (p.Arg282Ser) c.-4294966126A>T c.720A>T (p.Arg240Ser) c.648A>T (p.Arg216Ser) | |
7 | g.139962003G>A | CA4511845 | TBXAS1 | c.904G>A (p.Asp302Asn) c.*693G>A (n.*693G>A) c.1042G>A (p.Asp348Asn) c.907G>A (p.Asp303Asn) c.1045G>A (p.Asp349Asn) c.703G>A (p.Asp235Asn) n.875G>A n.387G>A n.269G>A c.847G>A (p.Asp283Asn) c.-4294966125G>A c.721G>A (p.Asp241Asn) c.649G>A (p.Asp217Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.139962003G>C | CA369584423 | TBXAS1 | c.904G>C (p.Asp302His) c.*693G>C (n.*693G>C) c.1042G>C (p.Asp348His) c.907G>C (p.Asp303His) c.1045G>C (p.Asp349His) c.703G>C (p.Asp235His) n.875G>C n.387G>C n.269G>C c.847G>C (p.Asp283His) c.-4294966125G>C c.721G>C (p.Asp241His) c.649G>C (p.Asp217His) | |
7 | g.139962003G= | CA1747341047 | TBXAS1 | c.904G= (p.Asp302=) c.*693G= (n.*693G=) c.1042G= (p.Asp348=) c.907G= (p.Asp303=) c.1045G= (p.Asp349=) c.703G= (p.Asp235=) n.875G= n.387G= n.269G= c.847G= (p.Asp283=) c.-4294966125G= c.721G= (p.Asp241=) c.649G= (p.Asp217=) | |
7 | g.139962003G>T | CA369584425 | TBXAS1 | c.904G>T (p.Asp302Tyr) c.*693G>T (n.*693G>T) c.1042G>T (p.Asp348Tyr) c.907G>T (p.Asp303Tyr) c.1045G>T (p.Asp349Tyr) c.703G>T (p.Asp235Tyr) n.875G>T n.387G>T n.269G>T c.847G>T (p.Asp283Tyr) c.-4294966125G>T c.721G>T (p.Asp241Tyr) c.649G>T (p.Asp217Tyr) | |
7 | g.139962004A>C | CA369584433 | TBXAS1 | c.905A>C (p.Asp302Ala) c.*694A>C (n.*694A>C) c.1043A>C (p.Asp348Ala) c.908A>C (p.Asp303Ala) c.1046A>C (p.Asp349Ala) c.704A>C (p.Asp235Ala) n.876A>C n.388A>C n.270A>C c.848A>C (p.Asp283Ala) c.-4294966124A>C c.722A>C (p.Asp241Ala) c.650A>C (p.Asp217Ala) | |
7 | g.139962004A>G | CA369584438 | TBXAS1 | c.905A>G (p.Asp302Gly) c.*694A>G (n.*694A>G) c.1043A>G (p.Asp348Gly) c.908A>G (p.Asp303Gly) c.1046A>G (p.Asp349Gly) c.704A>G (p.Asp235Gly) n.876A>G n.388A>G n.270A>G c.848A>G (p.Asp283Gly) c.-4294966124A>G c.722A>G (p.Asp241Gly) c.650A>G (p.Asp217Gly) | |
7 | g.139962004A>T | CA369584441 | TBXAS1 | c.905A>T (p.Asp302Val) c.*694A>T (n.*694A>T) c.1043A>T (p.Asp348Val) c.908A>T (p.Asp303Val) c.1046A>T (p.Asp349Val) c.704A>T (p.Asp235Val) n.876A>T n.388A>T n.270A>T c.848A>T (p.Asp283Val) c.-4294966124A>T c.722A>T (p.Asp241Val) c.650A>T (p.Asp217Val) | gnomAD v4 |
7 | g.139962005C>A | CA369584445 | TBXAS1 | c.906C>A (p.Asp302Glu) c.*695C>A (n.*695C>A) c.1044C>A (p.Asp348Glu) c.909C>A (p.Asp303Glu) c.1047C>A (p.Asp349Glu) c.705C>A (p.Asp235Glu) n.877C>A n.389C>A n.271C>A c.849C>A (p.Asp283Glu) c.-4294966123C>A c.723C>A (p.Asp241Glu) c.651C>A (p.Asp217Glu) | dbSNP |
7 | g.139962005C= | CA1747341048 | TBXAS1 | c.906C= (p.Asp302=) c.*695C= (n.*695C=) c.1044C= (p.Asp348=) c.909C= (p.Asp303=) c.1047C= (p.Asp349=) c.705C= (p.Asp235=) n.877C= n.389C= n.271C= c.849C= (p.Asp283=) c.-4294966123C= c.723C= (p.Asp241=) c.651C= (p.Asp217=) | |
7 | g.139962005C>G | CA369584446 | TBXAS1 | c.906C>G (p.Asp302Glu) c.*695C>G (n.*695C>G) c.1044C>G (p.Asp348Glu) c.909C>G (p.Asp303Glu) c.1047C>G (p.Asp349Glu) c.705C>G (p.Asp235Glu) n.877C>G n.389C>G n.271C>G c.849C>G (p.Asp283Glu) c.-4294966123C>G c.723C>G (p.Asp241Glu) c.651C>G (p.Asp217Glu) | |
7 | g.139962005C>T | CA4511846 | TBXAS1 | c.906C>T (p.Asp302=) c.*695C>T (n.*695C>T) c.1044C>T (p.Asp348=) c.909C>T (p.Asp303=) c.1047C>T (p.Asp349=) c.705C>T (p.Asp235=) n.877C>T n.389C>T n.271C>T c.849C>T (p.Asp283=) c.-4294966123C>T c.723C>T (p.Asp241=) c.651C>T (p.Asp217=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
7 | g.139962006G>A | CA4511847 | TBXAS1 | c.907G>A (p.Val303Ile) c.*696G>A (n.*696G>A) c.1045G>A (p.Val349Ile) c.910G>A (p.Val304Ile) c.1048G>A (p.Val350Ile) c.706G>A (p.Val236Ile) n.878G>A n.390G>A n.272G>A c.850G>A (p.Val284Ile) c.-4294966122G>A c.724G>A (p.Val242Ile) c.652G>A (p.Val218Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.139962006G>C | CA369584453 | TBXAS1 | c.907G>C (p.Val303Leu) c.*696G>C (n.*696G>C) c.1045G>C (p.Val349Leu) c.910G>C (p.Val304Leu) c.1048G>C (p.Val350Leu) c.706G>C (p.Val236Leu) n.878G>C n.390G>C n.272G>C c.850G>C (p.Val284Leu) c.-4294966122G>C c.724G>C (p.Val242Leu) c.652G>C (p.Val218Leu) | |
7 | g.139962006G= | CA1747341049 | TBXAS1 | c.907G= (p.Val303=) c.*696G= (n.*696G=) c.1045G= (p.Val349=) c.910G= (p.Val304=) c.1048G= (p.Val350=) c.706G= (p.Val236=) n.878G= n.390G= n.272G= c.850G= (p.Val284=) c.-4294966122G= c.724G= (p.Val242=) c.652G= (p.Val218=) | |
7 | g.139962006G>T | CA369584455 | TBXAS1 | c.907G>T (p.Val303Phe) c.*696G>T (n.*696G>T) c.1045G>T (p.Val349Phe) c.910G>T (p.Val304Phe) c.1048G>T (p.Val350Phe) c.706G>T (p.Val236Phe) n.878G>T n.390G>T n.272G>T c.850G>T (p.Val284Phe) c.-4294966122G>T c.724G>T (p.Val242Phe) c.652G>T (p.Val218Phe) | |
7 | g.139962007T>A | CA369584461 | TBXAS1 | c.908T>A (p.Val303Asp) c.*697T>A (n.*697T>A) c.1046T>A (p.Val349Asp) c.911T>A (p.Val304Asp) c.1049T>A (p.Val350Asp) c.707T>A (p.Val236Asp) n.879T>A n.391T>A n.273T>A c.851T>A (p.Val284Asp) c.-4294966121T>A c.725T>A (p.Val242Asp) c.653T>A (p.Val218Asp) | |
7 | g.139962007T>C | CA369584464 | TBXAS1 | c.908T>C (p.Val303Ala) c.*697T>C (n.*697T>C) c.1046T>C (p.Val349Ala) c.911T>C (p.Val304Ala) c.1049T>C (p.Val350Ala) c.707T>C (p.Val236Ala) n.879T>C n.391T>C n.273T>C c.851T>C (p.Val284Ala) c.-4294966121T>C c.725T>C (p.Val242Ala) c.653T>C (p.Val218Ala) | |
7 | g.139962007T>G | CA369584467 | TBXAS1 | c.908T>G (p.Val303Gly) c.*697T>G (n.*697T>G) c.1046T>G (p.Val349Gly) c.911T>G (p.Val304Gly) c.1049T>G (p.Val350Gly) c.707T>G (p.Val236Gly) n.879T>G n.391T>G n.273T>G c.851T>G (p.Val284Gly) c.-4294966121T>G c.725T>G (p.Val242Gly) c.653T>G (p.Val218Gly) | |
7 | g.139962008T>A | CA458115398 | TBXAS1 | c.909T>A (p.Val303=) c.*698T>A (n.*698T>A) c.1047T>A (p.Val349=) c.912T>A (p.Val304=) c.1050T>A (p.Val350=) c.708T>A (p.Val236=) n.880T>A n.392T>A n.274T>A c.852T>A (p.Val284=) c.-4294966120T>A c.726T>A (p.Val242=) c.654T>A (p.Val218=) | |
7 | g.139962008T>C | CA458115399 | TBXAS1 | c.909T>C (p.Val303=) c.*698T>C (n.*698T>C) c.1047T>C (p.Val349=) c.912T>C (p.Val304=) c.1050T>C (p.Val350=) c.708T>C (p.Val236=) n.880T>C n.392T>C n.274T>C c.852T>C (p.Val284=) c.-4294966120T>C c.726T>C (p.Val242=) c.654T>C (p.Val218=) | dbSNP |
7 | g.139962008T>G | CA458115400 | TBXAS1 | c.909T>G (p.Val303=) c.*698T>G (n.*698T>G) c.1047T>G (p.Val349=) c.912T>G (p.Val304=) c.1050T>G (p.Val350=) c.708T>G (p.Val236=) n.880T>G n.392T>G n.274T>G c.852T>G (p.Val284=) c.-4294966120T>G c.726T>G (p.Val242=) c.654T>G (p.Val218=) | |
7 | g.139962008T= | CA1747341050 | TBXAS1 | c.909T= (p.Val303=) c.*698T= (n.*698T=) c.1047T= (p.Val349=) c.912T= (p.Val304=) c.1050T= (p.Val350=) c.708T= (p.Val236=) n.880T= n.392T= n.274T= c.852T= (p.Val284=) c.-4294966120T= c.726T= (p.Val242=) c.654T= (p.Val218=) | |
7 | g.139962009T>A | CA369584471 | TBXAS1 | c.910T>A (p.Phe304Ile) c.*699T>A (n.*699T>A) c.1048T>A (p.Phe350Ile) c.913T>A (p.Phe305Ile) c.1051T>A (p.Phe351Ile) c.709T>A (p.Phe237Ile) n.881T>A n.393T>A n.275T>A c.853T>A (p.Phe285Ile) c.-4294966119T>A c.727T>A (p.Phe243Ile) c.655T>A (p.Phe219Ile) | |
7 | g.139962009T>C | CA369584478 | TBXAS1 | c.910T>C (p.Phe304Leu) c.*699T>C (n.*699T>C) c.1048T>C (p.Phe350Leu) c.913T>C (p.Phe305Leu) c.1051T>C (p.Phe351Leu) c.709T>C (p.Phe237Leu) n.881T>C n.393T>C n.275T>C c.853T>C (p.Phe285Leu) c.-4294966119T>C c.727T>C (p.Phe243Leu) c.655T>C (p.Phe219Leu) | |
7 | g.139962009T>G | CA369584474 | TBXAS1 | c.910T>G (p.Phe304Val) c.*699T>G (n.*699T>G) c.1048T>G (p.Phe350Val) c.913T>G (p.Phe305Val) c.1051T>G (p.Phe351Val) c.709T>G (p.Phe237Val) n.881T>G n.393T>G n.275T>G c.853T>G (p.Phe285Val) c.-4294966119T>G c.727T>G (p.Phe243Val) c.655T>G (p.Phe219Val) | |
7 | g.139962010T>A | CA369584482 | TBXAS1 | c.911T>A (p.Phe304Tyr) c.*700T>A (n.*700T>A) c.1049T>A (p.Phe350Tyr) c.914T>A (p.Phe305Tyr) c.1052T>A (p.Phe351Tyr) c.710T>A (p.Phe237Tyr) n.882T>A n.394T>A n.276T>A c.854T>A (p.Phe285Tyr) c.-4294966118T>A c.728T>A (p.Phe243Tyr) c.656T>A (p.Phe219Tyr) | |
7 | g.139962010T>C | CA369584489 | TBXAS1 | c.911T>C (p.Phe304Ser) c.*700T>C (n.*700T>C) c.1049T>C (p.Phe350Ser) c.914T>C (p.Phe305Ser) c.1052T>C (p.Phe351Ser) c.710T>C (p.Phe237Ser) n.882T>C n.394T>C n.276T>C c.854T>C (p.Phe285Ser) c.-4294966118T>C c.728T>C (p.Phe243Ser) c.656T>C (p.Phe219Ser) | |
7 | g.139962010T>G | CA369584486 | TBXAS1 | c.911T>G (p.Phe304Cys) c.*700T>G (n.*700T>G) c.1049T>G (p.Phe350Cys) c.914T>G (p.Phe305Cys) c.1052T>G (p.Phe351Cys) c.710T>G (p.Phe237Cys) n.882T>G n.394T>G n.276T>G c.854T>G (p.Phe285Cys) c.-4294966118T>G c.728T>G (p.Phe243Cys) c.656T>G (p.Phe219Cys) | |
7 | g.139962011C>A | CA369584493 | TBXAS1 | c.912C>A (p.Phe304Leu) c.*701C>A (n.*701C>A) c.1050C>A (p.Phe350Leu) c.915C>A (p.Phe305Leu) c.1053C>A (p.Phe351Leu) c.711C>A (p.Phe237Leu) n.883C>A n.395C>A n.277C>A c.855C>A (p.Phe285Leu) c.-4294966117C>A c.729C>A (p.Phe243Leu) c.657C>A (p.Phe219Leu) | |
7 | g.139962011C= | CA1747341051 | TBXAS1 | c.912C= (p.Phe304=) c.*701C= (n.*701C=) c.1050C= (p.Phe350=) c.915C= (p.Phe305=) c.1053C= (p.Phe351=) c.711C= (p.Phe237=) n.883C= n.395C= n.277C= c.855C= (p.Phe285=) c.-4294966117C= c.729C= (p.Phe243=) c.657C= (p.Phe219=) | |
7 | g.139962011C>G | CA369584499 | TBXAS1 | c.912C>G (p.Phe304Leu) c.*701C>G (n.*701C>G) c.1050C>G (p.Phe350Leu) c.915C>G (p.Phe305Leu) c.1053C>G (p.Phe351Leu) c.711C>G (p.Phe237Leu) n.883C>G n.395C>G n.277C>G c.855C>G (p.Phe285Leu) c.-4294966117C>G c.729C>G (p.Phe243Leu) c.657C>G (p.Phe219Leu) | |
7 | g.139962011C>T | CA458115404 | TBXAS1 | c.912C>T (p.Phe304=) c.*701C>T (n.*701C>T) c.1050C>T (p.Phe350=) c.915C>T (p.Phe305=) c.1053C>T (p.Phe351=) c.711C>T (p.Phe237=) n.883C>T n.395C>T n.277C>T c.855C>T (p.Phe285=) c.-4294966117C>T c.729C>T (p.Phe243=) c.657C>T (p.Phe219=) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.139962012T>A | CA369584503 | TBXAS1 | c.913T>A (p.Ser305Thr) c.*702T>A (n.*702T>A) c.1051T>A (p.Ser351Thr) c.916T>A (p.Ser306Thr) c.1054T>A (p.Ser352Thr) c.712T>A (p.Ser238Thr) n.884T>A n.396T>A n.278T>A c.856T>A (p.Ser286Thr) c.-4294966116T>A c.730T>A (p.Ser244Thr) c.658T>A (p.Ser220Thr) | |
7 | g.139962012T>C | CA369584507 | TBXAS1 | c.913T>C (p.Ser305Pro) c.*702T>C (n.*702T>C) c.1051T>C (p.Ser351Pro) c.916T>C (p.Ser306Pro) c.1054T>C (p.Ser352Pro) c.712T>C (p.Ser238Pro) n.884T>C n.396T>C n.278T>C c.856T>C (p.Ser286Pro) c.-4294966116T>C c.730T>C (p.Ser244Pro) c.658T>C (p.Ser220Pro) | |
7 | g.139962012T>G | CA369584511 | TBXAS1 | c.913T>G (p.Ser305Ala) c.*702T>G (n.*702T>G) c.1051T>G (p.Ser351Ala) c.916T>G (p.Ser306Ala) c.1054T>G (p.Ser352Ala) c.712T>G (p.Ser238Ala) n.884T>G n.396T>G n.278T>G c.856T>G (p.Ser286Ala) c.-4294966116T>G c.730T>G (p.Ser244Ala) c.658T>G (p.Ser220Ala) | |
7 | g.139962013C>A | CA369584517 | TBXAS1 | c.914C>A (p.Ser305Tyr) c.*703C>A (n.*703C>A) c.1052C>A (p.Ser351Tyr) c.917C>A (p.Ser306Tyr) c.1055C>A (p.Ser352Tyr) c.713C>A (p.Ser238Tyr) n.885C>A n.397C>A n.279C>A c.857C>A (p.Ser286Tyr) c.-4294966115C>A c.731C>A (p.Ser244Tyr) c.659C>A (p.Ser220Tyr) | |
7 | g.139962013C= | CA1747341052 | TBXAS1 | c.914C= (p.Ser305=) c.*703C= (n.*703C=) c.1052C= (p.Ser351=) c.917C= (p.Ser306=) c.1055C= (p.Ser352=) c.713C= (p.Ser238=) n.885C= n.397C= n.279C= c.857C= (p.Ser286=) c.-4294966115C= c.731C= (p.Ser244=) c.659C= (p.Ser220=) | |
7 | g.139962013C>G | CA369584518 | TBXAS1 | c.914C>G (p.Ser305Cys) c.*703C>G (n.*703C>G) c.1052C>G (p.Ser351Cys) c.917C>G (p.Ser306Cys) c.1055C>G (p.Ser352Cys) c.713C>G (p.Ser238Cys) n.885C>G n.397C>G n.279C>G c.857C>G (p.Ser286Cys) c.-4294966115C>G c.731C>G (p.Ser244Cys) c.659C>G (p.Ser220Cys) | |
7 | g.139962013C>T | CA369584523 | TBXAS1 | c.914C>T (p.Ser305Phe) c.*703C>T (n.*703C>T) c.1052C>T (p.Ser351Phe) c.917C>T (p.Ser306Phe) c.1055C>T (p.Ser352Phe) c.713C>T (p.Ser238Phe) n.885C>T n.397C>T n.279C>T c.857C>T (p.Ser286Phe) c.-4294966115C>T c.731C>T (p.Ser244Phe) c.659C>T (p.Ser220Phe) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
7 | g.139962014C>A | CA458115408 | TBXAS1 | c.915C>A (p.Ser305=) c.*704C>A (n.*704C>A) c.1053C>A (p.Ser351=) c.918C>A (p.Ser306=) c.1056C>A (p.Ser352=) c.714C>A (p.Ser238=) n.886C>A n.398C>A n.280C>A c.858C>A (p.Ser286=) c.-4294966114C>A c.732C>A (p.Ser244=) c.660C>A (p.Ser220=) | |
7 | g.139962014C>G | CA458115409 | TBXAS1 | c.915C>G (p.Ser305=) c.*704C>G (n.*704C>G) c.1053C>G (p.Ser351=) c.918C>G (p.Ser306=) c.1056C>G (p.Ser352=) c.714C>G (p.Ser238=) n.886C>G n.398C>G n.280C>G c.858C>G (p.Ser286=) c.-4294966114C>G c.732C>G (p.Ser244=) c.660C>G (p.Ser220=) | |
7 | g.139962014C>T | CA458115410 | TBXAS1 | c.915C>T (p.Ser305=) c.*704C>T (n.*704C>T) c.1053C>T (p.Ser351=) c.918C>T (p.Ser306=) c.1056C>T (p.Ser352=) c.714C>T (p.Ser238=) n.886C>T n.398C>T n.280C>T c.858C>T (p.Ser286=) c.-4294966114C>T c.732C>T (p.Ser244=) c.660C>T (p.Ser220=) | |
7 | g.139962015T>A | CA369584528 | TBXAS1 | c.916T>A (p.Ser306Thr) c.*705T>A (n.*705T>A) c.1054T>A (p.Ser352Thr) c.919T>A (p.Ser307Thr) c.1057T>A (p.Ser353Thr) c.715T>A (p.Ser239Thr) n.887T>A n.399T>A n.281T>A c.859T>A (p.Ser287Thr) c.-4294966113T>A c.733T>A (p.Ser245Thr) c.661T>A (p.Ser221Thr) | gnomAD v4 |
7 | g.139962015T>C | CA369584532 | TBXAS1 | c.916T>C (p.Ser306Pro) c.*705T>C (n.*705T>C) c.1054T>C (p.Ser352Pro) c.919T>C (p.Ser307Pro) c.1057T>C (p.Ser353Pro) c.715T>C (p.Ser239Pro) n.887T>C n.399T>C n.281T>C c.859T>C (p.Ser287Pro) c.-4294966113T>C c.733T>C (p.Ser245Pro) c.661T>C (p.Ser221Pro) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.139962015T>G | CA369584534 | TBXAS1 | c.916T>G (p.Ser306Ala) c.*705T>G (n.*705T>G) c.1054T>G (p.Ser352Ala) c.919T>G (p.Ser307Ala) c.1057T>G (p.Ser353Ala) c.715T>G (p.Ser239Ala) n.887T>G n.399T>G n.281T>G c.859T>G (p.Ser287Ala) c.-4294966113T>G c.733T>G (p.Ser245Ala) c.661T>G (p.Ser221Ala) | |
7 | g.139962015T= | CA1747341053 | TBXAS1 | c.916T= (p.Ser306=) c.*705T= (n.*705T=) c.1054T= (p.Ser352=) c.919T= (p.Ser307=) c.1057T= (p.Ser353=) c.715T= (p.Ser239=) n.887T= n.399T= n.281T= c.859T= (p.Ser287=) c.-4294966113T= c.733T= (p.Ser245=) c.661T= (p.Ser221=) | |
7 | g.139962016C>A | CA369584549 | TBXAS1 | c.917C>A (p.Ser306Tyr) c.*706C>A (n.*706C>A) c.1055C>A (p.Ser352Tyr) c.920C>A (p.Ser307Tyr) c.1058C>A (p.Ser353Tyr) c.716C>A (p.Ser239Tyr) n.888C>A n.400C>A n.282C>A c.860C>A (p.Ser287Tyr) c.-4294966112C>A c.734C>A (p.Ser245Tyr) c.662C>A (p.Ser221Tyr) | |
7 | g.139962016C= | CA1747341054 | TBXAS1 | c.917C= (p.Ser306=) c.*706C= (n.*706C=) c.1055C= (p.Ser352=) c.920C= (p.Ser307=) c.1058C= (p.Ser353=) c.716C= (p.Ser239=) n.888C= n.400C= n.282C= c.860C= (p.Ser287=) c.-4294966112C= c.734C= (p.Ser245=) c.662C= (p.Ser221=) | |
7 | g.139962016C>G | CA369584538 | TBXAS1 | c.917C>G (p.Ser306Cys) c.*706C>G (n.*706C>G) c.1055C>G (p.Ser352Cys) c.920C>G (p.Ser307Cys) c.1058C>G (p.Ser353Cys) c.716C>G (p.Ser239Cys) n.888C>G n.400C>G n.282C>G c.860C>G (p.Ser287Cys) c.-4294966112C>G c.734C>G (p.Ser245Cys) c.662C>G (p.Ser221Cys) | |
7 | g.139962016C>T | CA369584546 | TBXAS1 | c.917C>T (p.Ser306Phe) c.*706C>T (n.*706C>T) c.1055C>T (p.Ser352Phe) c.920C>T (p.Ser307Phe) c.1058C>T (p.Ser353Phe) c.716C>T (p.Ser239Phe) n.888C>T n.400C>T n.282C>T c.860C>T (p.Ser287Phe) c.-4294966112C>T c.734C>T (p.Ser245Phe) c.662C>T (p.Ser221Phe) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.139962016_139962042del | CA2685190567 | TBXAS1 | c.917_943del (p.Ser306_Arg315delinsTrp) c.*706_*732del (n.*706_*732del) c.1055_1081del (p.Ser352_Arg361delinsTrp) c.920_946del (p.Ser307_Arg316delinsTrp) c.1058_1084del (p.Ser353_Arg362delinsTrp) c.716_742del (p.Ser239_Arg248delinsTrp) n.888_914del n.400_426del n.282_308del c.860_886del (p.Ser287_Arg296delinsTrp) c.-4294966112_-4294966086del c.734_760del (p.Ser245_Arg254delinsTrp) c.662_688del (p.Ser221_Arg230delinsTrp) | gnomAD v4 |
7 | g.139962017T>A | CA458115413 | TBXAS1 | c.918T>A (p.Ser306=) c.*707T>A (n.*707T>A) c.1056T>A (p.Ser352=) c.921T>A (p.Ser307=) c.1059T>A (p.Ser353=) c.717T>A (p.Ser239=) n.889T>A n.401T>A n.283T>A c.861T>A (p.Ser287=) c.-4294966111T>A c.735T>A (p.Ser245=) c.663T>A (p.Ser221=) | |
7 | g.139962017T>C | CA458115412 | TBXAS1 | c.918T>C (p.Ser306=) c.*707T>C (n.*707T>C) c.1056T>C (p.Ser352=) c.921T>C (p.Ser307=) c.1059T>C (p.Ser353=) c.717T>C (p.Ser239=) n.889T>C n.401T>C n.283T>C c.861T>C (p.Ser287=) c.-4294966111T>C c.735T>C (p.Ser245=) c.663T>C (p.Ser221=) | |
7 | g.139962017T>G | CA167953442 | TBXAS1 | c.918T>G (p.Ser306=) c.*707T>G (n.*707T>G) c.1056T>G (p.Ser352=) c.921T>G (p.Ser307=) c.1059T>G (p.Ser353=) c.717T>G (p.Ser239=) n.889T>G n.401T>G n.283T>G c.861T>G (p.Ser287=) c.-4294966111T>G c.735T>G (p.Ser245=) c.663T>G (p.Ser221=) | dbSNP gnomAD v4 |
7 | g.139962017T= | CA1747341055 | TBXAS1 | c.918T= (p.Ser306=) c.*707T= (n.*707T=) c.1056T= (p.Ser352=) c.921T= (p.Ser307=) c.1059T= (p.Ser353=) c.717T= (p.Ser239=) n.889T= n.401T= n.283T= c.861T= (p.Ser287=) c.-4294966111T= c.735T= (p.Ser245=) c.663T= (p.Ser221=) | |
7 | g.139962018A= | CA1747341056 | TBXAS1 | c.919A= (p.Thr307=) c.*708A= (n.*708A=) c.1057A= (p.Thr353=) c.922A= (p.Thr308=) c.1060A= (p.Thr354=) c.718A= (p.Thr240=) n.890A= n.402A= n.284A= c.862A= (p.Thr288=) c.-4294966110A= c.736A= (p.Thr246=) c.664A= (p.Thr222=) | |
7 | g.139962018A>C | CA369584564 | TBXAS1 | c.919A>C (p.Thr307Pro) c.*708A>C (n.*708A>C) c.1057A>C (p.Thr353Pro) c.922A>C (p.Thr308Pro) c.1060A>C (p.Thr354Pro) c.718A>C (p.Thr240Pro) n.890A>C n.402A>C n.284A>C c.862A>C (p.Thr288Pro) c.-4294966110A>C c.736A>C (p.Thr246Pro) c.664A>C (p.Thr222Pro) | |
7 | g.139962018A>G | CA4511848 | TBXAS1 | c.919A>G (p.Thr307Ala) c.*708A>G (n.*708A>G) c.1057A>G (p.Thr353Ala) c.922A>G (p.Thr308Ala) c.1060A>G (p.Thr354Ala) c.718A>G (p.Thr240Ala) n.890A>G n.402A>G n.284A>G c.862A>G (p.Thr288Ala) c.-4294966110A>G c.736A>G (p.Thr246Ala) c.664A>G (p.Thr222Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.139962018A>T | CA369584572 | TBXAS1 | c.919A>T (p.Thr307Ser) c.*708A>T (n.*708A>T) c.1057A>T (p.Thr353Ser) c.922A>T (p.Thr308Ser) c.1060A>T (p.Thr354Ser) c.718A>T (p.Thr240Ser) n.890A>T n.402A>T n.284A>T c.862A>T (p.Thr288Ser) c.-4294966110A>T c.736A>T (p.Thr246Ser) c.664A>T (p.Thr222Ser) | |
7 | g.139962019C>A | CA369584575 | TBXAS1 | c.920C>A (p.Thr307Asn) c.*709C>A (n.*709C>A) c.1058C>A (p.Thr353Asn) c.923C>A (p.Thr308Asn) c.1061C>A (p.Thr354Asn) c.719C>A (p.Thr240Asn) n.891C>A n.403C>A n.285C>A c.863C>A (p.Thr288Asn) c.-4294966109C>A c.737C>A (p.Thr246Asn) c.665C>A (p.Thr222Asn) | |
7 | g.139962019C= | CA1747341057 | TBXAS1 | c.920C= (p.Thr307=) c.*709C= (n.*709C=) c.1058C= (p.Thr353=) c.923C= (p.Thr308=) c.1061C= (p.Thr354=) c.719C= (p.Thr240=) n.891C= n.403C= n.285C= c.863C= (p.Thr288=) c.-4294966109C= c.737C= (p.Thr246=) c.665C= (p.Thr222=) | |
7 | g.139962019C>G | CA369584581 | TBXAS1 | c.920C>G (p.Thr307Ser) c.*709C>G (n.*709C>G) c.1058C>G (p.Thr353Ser) c.923C>G (p.Thr308Ser) c.1061C>G (p.Thr354Ser) c.719C>G (p.Thr240Ser) n.891C>G n.403C>G n.285C>G c.863C>G (p.Thr288Ser) c.-4294966109C>G c.737C>G (p.Thr246Ser) c.665C>G (p.Thr222Ser) | |
7 | g.139962019C>T | CA369584584 | TBXAS1 | c.920C>T (p.Thr307Ile) c.*709C>T (n.*709C>T) c.1058C>T (p.Thr353Ile) c.923C>T (p.Thr308Ile) c.1061C>T (p.Thr354Ile) c.719C>T (p.Thr240Ile) n.891C>T n.403C>T n.285C>T c.863C>T (p.Thr288Ile) c.-4294966109C>T c.737C>T (p.Thr246Ile) c.665C>T (p.Thr222Ile) | dbSNP gnomAD v4 COSMIC COSMIC |
7 | g.139962020T>A | CA458115415 | TBXAS1 | c.921T>A (p.Thr307=) c.*710T>A (n.*710T>A) c.1059T>A (p.Thr353=) c.924T>A (p.Thr308=) c.1062T>A (p.Thr354=) c.720T>A (p.Thr240=) n.892T>A n.404T>A n.286T>A c.864T>A (p.Thr288=) c.-4294966108T>A c.738T>A (p.Thr246=) c.666T>A (p.Thr222=) | |
7 | g.139962020T>C | CA458115416 | TBXAS1 | c.921T>C (p.Thr307=) c.*710T>C (n.*710T>C) c.1059T>C (p.Thr353=) c.924T>C (p.Thr308=) c.1062T>C (p.Thr354=) c.720T>C (p.Thr240=) n.892T>C n.404T>C n.286T>C c.864T>C (p.Thr288=) c.-4294966108T>C c.738T>C (p.Thr246=) c.666T>C (p.Thr222=) | gnomAD v4 |
7 | g.139962020T>G | CA458115417 | TBXAS1 | c.921T>G (p.Thr307=) c.*710T>G (n.*710T>G) c.1059T>G (p.Thr353=) c.924T>G (p.Thr308=) c.1062T>G (p.Thr354=) c.720T>G (p.Thr240=) n.892T>G n.404T>G n.286T>G c.864T>G (p.Thr288=) c.-4294966108T>G c.738T>G (p.Thr246=) c.666T>G (p.Thr222=) | |
7 | g.139962021G>A | CA369584589 | TBXAS1 | c.922G>A (p.Gly308Arg) c.*711G>A (n.*711G>A) c.1060G>A (p.Gly354Arg) c.925G>A (p.Gly309Arg) c.1063G>A (p.Gly355Arg) c.721G>A (p.Gly241Arg) n.893G>A n.405G>A n.287G>A c.865G>A (p.Gly289Arg) c.-4294966107G>A c.739G>A (p.Gly247Arg) c.667G>A (p.Gly223Arg) | |
7 | g.139962021G>C | CA369584594 | TBXAS1 | c.922G>C (p.Gly308Arg) c.*711G>C (n.*711G>C) c.1060G>C (p.Gly354Arg) c.925G>C (p.Gly309Arg) c.1063G>C (p.Gly355Arg) c.721G>C (p.Gly241Arg) n.893G>C n.405G>C n.287G>C c.865G>C (p.Gly289Arg) c.-4294966107G>C c.739G>C (p.Gly247Arg) c.667G>C (p.Gly223Arg) | |
7 | g.139962021G>T | CA369584596 | TBXAS1 | c.922G>T (p.Gly308Trp) c.*711G>T (n.*711G>T) c.1060G>T (p.Gly354Trp) c.925G>T (p.Gly309Trp) c.1063G>T (p.Gly355Trp) c.721G>T (p.Gly241Trp) n.893G>T n.405G>T n.287G>T c.865G>T (p.Gly289Trp) c.-4294966107G>T c.739G>T (p.Gly247Trp) c.667G>T (p.Gly223Trp) | |
7 | g.139962022G>A | CA369584603 | TBXAS1 | c.923G>A (p.Gly308Glu) c.*712G>A (n.*712G>A) c.1061G>A (p.Gly354Glu) c.926G>A (p.Gly309Glu) c.1064G>A (p.Gly355Glu) c.722G>A (p.Gly241Glu) n.894G>A n.406G>A n.288G>A c.866G>A (p.Gly289Glu) c.-4294966106G>A c.740G>A (p.Gly247Glu) c.668G>A (p.Gly223Glu) | |
7 | g.139962022G>C | CA369584606 | TBXAS1 | c.923G>C (p.Gly308Ala) c.*712G>C (n.*712G>C) c.1061G>C (p.Gly354Ala) c.926G>C (p.Gly309Ala) c.1064G>C (p.Gly355Ala) c.722G>C (p.Gly241Ala) n.894G>C n.406G>C n.288G>C c.866G>C (p.Gly289Ala) c.-4294966106G>C c.740G>C (p.Gly247Ala) c.668G>C (p.Gly223Ala) | |
7 | g.139962022G>T | CA369584600 | TBXAS1 | c.923G>T (p.Gly308Val) c.*712G>T (n.*712G>T) c.1061G>T (p.Gly354Val) c.926G>T (p.Gly309Val) c.1064G>T (p.Gly355Val) c.722G>T (p.Gly241Val) n.894G>T n.406G>T n.288G>T c.866G>T (p.Gly289Val) c.-4294966106G>T c.740G>T (p.Gly247Val) c.668G>T (p.Gly223Val) | |
7 | g.139962023G>A | CA458115418 | TBXAS1 | c.924G>A (p.Gly308=) c.*713G>A (n.*713G>A) c.1062G>A (p.Gly354=) c.927G>A (p.Gly309=) c.1065G>A (p.Gly355=) c.723G>A (p.Gly241=) n.895G>A n.407G>A n.289G>A c.867G>A (p.Gly289=) c.-4294966105G>A c.741G>A (p.Gly247=) c.669G>A (p.Gly223=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.139962023G>C | CA458115419 | TBXAS1 | c.924G>C (p.Gly308=) c.*713G>C (n.*713G>C) c.1062G>C (p.Gly354=) c.927G>C (p.Gly309=) c.1065G>C (p.Gly355=) c.723G>C (p.Gly241=) n.895G>C n.407G>C n.289G>C c.867G>C (p.Gly289=) c.-4294966105G>C c.741G>C (p.Gly247=) c.669G>C (p.Gly223=) | |
7 | g.139962023G= | CA1747341058 | TBXAS1 | c.924G= (p.Gly308=) c.*713G= (n.*713G=) c.1062G= (p.Gly354=) c.927G= (p.Gly309=) c.1065G= (p.Gly355=) c.723G= (p.Gly241=) n.895G= n.407G= n.289G= c.867G= (p.Gly289=) c.-4294966105G= c.741G= (p.Gly247=) c.669G= (p.Gly223=) | |
7 | g.139962023G>T | CA458115420 | TBXAS1 | c.924G>T (p.Gly308=) c.*713G>T (n.*713G>T) c.1062G>T (p.Gly354=) c.927G>T (p.Gly309=) c.1065G>T (p.Gly355=) c.723G>T (p.Gly241=) n.895G>T n.407G>T n.289G>T c.867G>T (p.Gly289=) c.-4294966105G>T c.741G>T (p.Gly247=) c.669G>T (p.Gly223=) | |
7 | g.139962024T>A | CA369584612 | TBXAS1 | c.925T>A (p.Cys309Ser) c.*714T>A (n.*714T>A) c.1063T>A (p.Cys355Ser) c.928T>A (p.Cys310Ser) c.1066T>A (p.Cys356Ser) c.724T>A (p.Cys242Ser) n.896T>A n.408T>A n.290T>A c.868T>A (p.Cys290Ser) c.-4294966104T>A c.742T>A (p.Cys248Ser) c.670T>A (p.Cys224Ser) | gnomAD v4 |
7 | g.139962024T>C | CA369584615 | TBXAS1 | c.925T>C (p.Cys309Arg) c.*714T>C (n.*714T>C) c.1063T>C (p.Cys355Arg) c.928T>C (p.Cys310Arg) c.1066T>C (p.Cys356Arg) c.724T>C (p.Cys242Arg) n.896T>C n.408T>C n.290T>C c.868T>C (p.Cys290Arg) c.-4294966104T>C c.742T>C (p.Cys248Arg) c.670T>C (p.Cys224Arg) | gnomAD v4 |
7 | g.139962024T>G | CA369584618 | TBXAS1 | c.925T>G (p.Cys309Gly) c.*714T>G (n.*714T>G) c.1063T>G (p.Cys355Gly) c.928T>G (p.Cys310Gly) c.1066T>G (p.Cys356Gly) c.724T>G (p.Cys242Gly) n.896T>G n.408T>G n.290T>G c.868T>G (p.Cys290Gly) c.-4294966104T>G c.742T>G (p.Cys248Gly) c.670T>G (p.Cys224Gly) | |
7 | g.139962025G>A | CA167953443 | TBXAS1 | c.926G>A (p.Cys309Tyr) c.*715G>A (n.*715G>A) c.1064G>A (p.Cys355Tyr) c.929G>A (p.Cys310Tyr) c.1067G>A (p.Cys356Tyr) c.725G>A (p.Cys242Tyr) n.897G>A n.409G>A n.291G>A c.869G>A (p.Cys290Tyr) c.-4294966103G>A c.743G>A (p.Cys248Tyr) c.671G>A (p.Cys224Tyr) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.139962025G>C | CA369584626 | TBXAS1 | c.926G>C (p.Cys309Ser) c.*715G>C (n.*715G>C) c.1064G>C (p.Cys355Ser) c.929G>C (p.Cys310Ser) c.1067G>C (p.Cys356Ser) c.725G>C (p.Cys242Ser) n.897G>C n.409G>C n.291G>C c.869G>C (p.Cys290Ser) c.-4294966103G>C c.743G>C (p.Cys248Ser) c.671G>C (p.Cys224Ser) | |
7 | g.139962025G= | CA1747341059 | TBXAS1 | c.926G= (p.Cys309=) c.*715G= (n.*715G=) c.1064G= (p.Cys355=) c.929G= (p.Cys310=) c.1067G= (p.Cys356=) c.725G= (p.Cys242=) n.897G= n.409G= n.291G= c.869G= (p.Cys290=) c.-4294966103G= c.743G= (p.Cys248=) c.671G= (p.Cys224=) | |
7 | g.139962025G>T | CA369584629 | TBXAS1 | c.926G>T (p.Cys309Phe) c.*715G>T (n.*715G>T) c.1064G>T (p.Cys355Phe) c.929G>T (p.Cys310Phe) c.1067G>T (p.Cys356Phe) c.725G>T (p.Cys242Phe) n.897G>T n.409G>T n.291G>T c.869G>T (p.Cys290Phe) c.-4294966103G>T c.743G>T (p.Cys248Phe) c.671G>T (p.Cys224Phe) | |
7 | g.139962026C>A | CA369584633 | TBXAS1 | c.927C>A (p.Cys309Ter) c.*716C>A (n.*716C>A) c.1065C>A (p.Cys355Ter) c.930C>A (p.Cys310Ter) c.1068C>A (p.Cys356Ter) c.726C>A (p.Cys242Ter) n.898C>A n.410C>A n.292C>A c.870C>A (p.Cys290Ter) c.-4294966102C>A c.744C>A (p.Cys248Ter) c.672C>A (p.Cys224Ter) | |
7 | g.139962026C>G | CA369584635 | TBXAS1 | c.927C>G (p.Cys309Trp) c.*716C>G (n.*716C>G) c.1065C>G (p.Cys355Trp) c.930C>G (p.Cys310Trp) c.1068C>G (p.Cys356Trp) c.726C>G (p.Cys242Trp) n.898C>G n.410C>G n.292C>G c.870C>G (p.Cys290Trp) c.-4294966102C>G c.744C>G (p.Cys248Trp) c.672C>G (p.Cys224Trp) | |
7 | g.139962026C>T | CA458115421 | TBXAS1 | c.927C>T (p.Cys309=) c.*716C>T (n.*716C>T) c.1065C>T (p.Cys355=) c.930C>T (p.Cys310=) c.1068C>T (p.Cys356=) c.726C>T (p.Cys242=) n.898C>T n.410C>T n.292C>T c.870C>T (p.Cys290=) c.-4294966102C>T c.744C>T (p.Cys248=) c.672C>T (p.Cys224=) | |
7 | g.139962027A= | CA1747341060 | TBXAS1 | c.928A= (p.Lys310=) c.*717A= (n.*717A=) c.1066A= (p.Lys356=) c.931A= (p.Lys311=) c.1069A= (p.Lys357=) c.727A= (p.Lys243=) n.899A= n.411A= n.293A= c.871A= (p.Lys291=) c.-4294966101A= c.745A= (p.Lys249=) c.673A= (p.Lys225=) | |
7 | g.139962027A>C | CA369584640 | TBXAS1 | c.928A>C (p.Lys310Gln) c.*717A>C (n.*717A>C) c.1066A>C (p.Lys356Gln) c.931A>C (p.Lys311Gln) c.1069A>C (p.Lys357Gln) c.727A>C (p.Lys243Gln) n.899A>C n.411A>C n.293A>C c.871A>C (p.Lys291Gln) c.-4294966101A>C c.745A>C (p.Lys249Gln) c.673A>C (p.Lys225Gln) | |
7 | g.139962027A>G | CA4511849 | TBXAS1 | c.928A>G (p.Lys310Glu) c.*717A>G (n.*717A>G) c.1066A>G (p.Lys356Glu) c.931A>G (p.Lys311Glu) c.1069A>G (p.Lys357Glu) c.727A>G (p.Lys243Glu) n.899A>G n.411A>G n.293A>G c.871A>G (p.Lys291Glu) c.-4294966101A>G c.745A>G (p.Lys249Glu) c.673A>G (p.Lys225Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.139962027A>T | CA369584646 | TBXAS1 | c.928A>T (p.Lys310Ter) c.*717A>T (n.*717A>T) c.1066A>T (p.Lys356Ter) c.931A>T (p.Lys311Ter) c.1069A>T (p.Lys357Ter) c.727A>T (p.Lys243Ter) n.899A>T n.411A>T n.293A>T c.871A>T (p.Lys291Ter) c.-4294966101A>T c.745A>T (p.Lys249Ter) c.673A>T (p.Lys225Ter) | |
7 | g.139962028A= | CA1747341061 | TBXAS1 | c.929A= (p.Lys310=) c.*718A= (n.*718A=) c.1067A= (p.Lys356=) c.932A= (p.Lys311=) c.1070A= (p.Lys357=) c.728A= (p.Lys243=) n.900A= n.412A= n.294A= c.872A= (p.Lys291=) c.-4294966100A= c.746A= (p.Lys249=) c.674A= (p.Lys225=) | |
7 | g.139962028A>C | CA4511850 | TBXAS1 | c.929A>C (p.Lys310Thr) c.*718A>C (n.*718A>C) c.1067A>C (p.Lys356Thr) c.932A>C (p.Lys311Thr) c.1070A>C (p.Lys357Thr) c.728A>C (p.Lys243Thr) n.900A>C n.412A>C n.294A>C c.872A>C (p.Lys291Thr) c.-4294966100A>C c.746A>C (p.Lys249Thr) c.674A>C (p.Lys225Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.139962028A>G | CA369584653 | TBXAS1 | c.929A>G (p.Lys310Arg) c.*718A>G (n.*718A>G) c.1067A>G (p.Lys356Arg) c.932A>G (p.Lys311Arg) c.1070A>G (p.Lys357Arg) c.728A>G (p.Lys243Arg) n.900A>G n.412A>G n.294A>G c.872A>G (p.Lys291Arg) c.-4294966100A>G c.746A>G (p.Lys249Arg) c.674A>G (p.Lys225Arg) | |
7 | g.139962028A>T | CA369584657 | TBXAS1 | c.929A>T (p.Lys310Met) c.*718A>T (n.*718A>T) c.1067A>T (p.Lys356Met) c.932A>T (p.Lys311Met) c.1070A>T (p.Lys357Met) c.728A>T (p.Lys243Met) n.900A>T n.412A>T n.294A>T c.872A>T (p.Lys291Met) c.-4294966100A>T c.746A>T (p.Lys249Met) c.674A>T (p.Lys225Met) | |
7 | g.139962029G>A | CA458115424 | TBXAS1 | c.930G>A (p.Lys310=) c.*719G>A (n.*719G>A) c.1068G>A (p.Lys356=) c.933G>A (p.Lys311=) c.1071G>A (p.Lys357=) c.729G>A (p.Lys243=) n.901G>A n.413G>A n.295G>A c.873G>A (p.Lys291=) c.-4294966099G>A c.747G>A (p.Lys249=) c.675G>A (p.Lys225=) | gnomAD v4 |
7 | g.139962029G>C | CA369584662 | TBXAS1 | c.930G>C (p.Lys310Asn) c.*719G>C (n.*719G>C) c.1068G>C (p.Lys356Asn) c.933G>C (p.Lys311Asn) c.1071G>C (p.Lys357Asn) c.729G>C (p.Lys243Asn) n.901G>C n.413G>C n.295G>C c.873G>C (p.Lys291Asn) c.-4294966099G>C c.747G>C (p.Lys249Asn) c.675G>C (p.Lys225Asn) | |
7 | g.139962029G>T | CA369584664 | TBXAS1 | c.930G>T (p.Lys310Asn) c.*719G>T (n.*719G>T) c.1068G>T (p.Lys356Asn) c.933G>T (p.Lys311Asn) c.1071G>T (p.Lys357Asn) c.729G>T (p.Lys243Asn) n.901G>T n.413G>T n.295G>T c.873G>T (p.Lys291Asn) c.-4294966099G>T c.747G>T (p.Lys249Asn) c.675G>T (p.Lys225Asn) | |
7 | g.139962030C>A | CA369584670 | TBXAS1 | c.931C>A (p.Pro311Thr) c.*720C>A (n.*720C>A) c.1069C>A (p.Pro357Thr) c.934C>A (p.Pro312Thr) c.1072C>A (p.Pro358Thr) c.730C>A (p.Pro244Thr) n.902C>A n.414C>A n.296C>A c.874C>A (p.Pro292Thr) c.-4294966098C>A c.748C>A (p.Pro250Thr) c.676C>A (p.Pro226Thr) | |
7 | g.139962030C>G | CA369584673 | TBXAS1 | c.931C>G (p.Pro311Ala) c.*720C>G (n.*720C>G) c.1069C>G (p.Pro357Ala) c.934C>G (p.Pro312Ala) c.1072C>G (p.Pro358Ala) c.730C>G (p.Pro244Ala) n.902C>G n.414C>G n.296C>G c.874C>G (p.Pro292Ala) c.-4294966098C>G c.748C>G (p.Pro250Ala) c.676C>G (p.Pro226Ala) | |
7 | g.139962030C>T | CA369584675 | TBXAS1 | c.931C>T (p.Pro311Ser) c.*720C>T (n.*720C>T) c.1069C>T (p.Pro357Ser) c.934C>T (p.Pro312Ser) c.1072C>T (p.Pro358Ser) c.730C>T (p.Pro244Ser) n.902C>T n.414C>T n.296C>T c.874C>T (p.Pro292Ser) c.-4294966098C>T c.748C>T (p.Pro250Ser) c.676C>T (p.Pro226Ser) | dbSNP |
7 | g.139962031C>A | CA369584681 | TBXAS1 | c.932C>A (p.Pro311Gln) c.*721C>A (n.*721C>A) c.1070C>A (p.Pro357Gln) c.935C>A (p.Pro312Gln) c.1073C>A (p.Pro358Gln) c.731C>A (p.Pro244Gln) n.903C>A n.415C>A n.297C>A c.875C>A (p.Pro292Gln) c.-4294966097C>A c.749C>A (p.Pro250Gln) c.677C>A (p.Pro226Gln) | |
7 | g.139962031C= | CA1747341062 | TBXAS1 | c.932C= (p.Pro311=) c.*721C= (n.*721C=) c.1070C= (p.Pro357=) c.935C= (p.Pro312=) c.1073C= (p.Pro358=) c.731C= (p.Pro244=) n.903C= n.415C= n.297C= c.875C= (p.Pro292=) c.-4294966097C= c.749C= (p.Pro250=) c.677C= (p.Pro226=) | |
7 | g.139962031C>G | CA4511851 | TBXAS1 | c.932C>G (p.Pro311Arg) c.*721C>G (n.*721C>G) c.1070C>G (p.Pro357Arg) c.935C>G (p.Pro312Arg) c.1073C>G (p.Pro358Arg) c.731C>G (p.Pro244Arg) n.903C>G n.415C>G n.297C>G c.875C>G (p.Pro292Arg) c.-4294966097C>G c.749C>G (p.Pro250Arg) c.677C>G (p.Pro226Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.139962031C>T | CA4511852 | TBXAS1 | c.932C>T (p.Pro311Leu) c.*721C>T (n.*721C>T) c.1070C>T (p.Pro357Leu) c.935C>T (p.Pro312Leu) c.1073C>T (p.Pro358Leu) c.731C>T (p.Pro244Leu) n.903C>T n.415C>T n.297C>T c.875C>T (p.Pro292Leu) c.-4294966097C>T c.749C>T (p.Pro250Leu) c.677C>T (p.Pro226Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.139962032G>A | CA4511853 | TBXAS1 | c.933G>A (p.Pro311=) c.*722G>A (n.*722G>A) c.1071G>A (p.Pro357=) c.936G>A (p.Pro312=) c.1074G>A (p.Pro358=) c.732G>A (p.Pro244=) n.904G>A n.416G>A n.298G>A c.876G>A (p.Pro292=) c.-4294966096G>A c.750G>A (p.Pro250=) c.678G>A (p.Pro226=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.139962032G>C | CA458115425 | TBXAS1 | c.933G>C (p.Pro311=) c.*722G>C (n.*722G>C) c.1071G>C (p.Pro357=) c.936G>C (p.Pro312=) c.1074G>C (p.Pro358=) c.732G>C (p.Pro244=) n.904G>C n.416G>C n.298G>C c.876G>C (p.Pro292=) c.-4294966096G>C c.750G>C (p.Pro250=) c.678G>C (p.Pro226=) | |
7 | g.139962032G= | CA1747341063 | TBXAS1 | c.933G= (p.Pro311=) c.*722G= (n.*722G=) c.1071G= (p.Pro357=) c.936G= (p.Pro312=) c.1074G= (p.Pro358=) c.732G= (p.Pro244=) n.904G= n.416G= n.298G= c.876G= (p.Pro292=) c.-4294966096G= c.750G= (p.Pro250=) c.678G= (p.Pro226=) | |
7 | g.139962032G>T | CA458115426 | TBXAS1 | c.933G>T (p.Pro311=) c.*722G>T (n.*722G>T) c.1071G>T (p.Pro357=) c.936G>T (p.Pro312=) c.1074G>T (p.Pro358=) c.732G>T (p.Pro244=) n.904G>T n.416G>T n.298G>T c.876G>T (p.Pro292=) c.-4294966096G>T c.750G>T (p.Pro250=) c.678G>T (p.Pro226=) | |
7 | g.139962033A>C | CA369584694 | TBXAS1 | c.934A>C (p.Asn312His) c.*723A>C (n.*723A>C) c.1072A>C (p.Asn358His) c.937A>C (p.Asn313His) c.1075A>C (p.Asn359His) c.733A>C (p.Asn245His) n.905A>C n.417A>C n.299A>C c.877A>C (p.Asn293His) c.-4294966095A>C c.751A>C (p.Asn251His) c.679A>C (p.Asn227His) | |
7 | g.139962033A>G | CA369584695 | TBXAS1 | c.934A>G (p.Asn312Asp) c.*723A>G (n.*723A>G) c.1072A>G (p.Asn358Asp) c.937A>G (p.Asn313Asp) c.1075A>G (p.Asn359Asp) c.733A>G (p.Asn245Asp) n.905A>G n.417A>G n.299A>G c.877A>G (p.Asn293Asp) c.-4294966095A>G c.751A>G (p.Asn251Asp) c.679A>G (p.Asn227Asp) | |
7 | g.139962033A>T | CA369584698 | TBXAS1 | c.934A>T (p.Asn312Tyr) c.*723A>T (n.*723A>T) c.1072A>T (p.Asn358Tyr) c.937A>T (p.Asn313Tyr) c.1075A>T (p.Asn359Tyr) c.733A>T (p.Asn245Tyr) n.905A>T n.417A>T n.299A>T c.877A>T (p.Asn293Tyr) c.-4294966095A>T c.751A>T (p.Asn251Tyr) c.679A>T (p.Asn227Tyr) | |
7 | g.139962034A>C | CA369584703 | TBXAS1 | c.935A>C (p.Asn312Thr) c.*724A>C (n.*724A>C) c.1073A>C (p.Asn358Thr) c.938A>C (p.Asn313Thr) c.1076A>C (p.Asn359Thr) c.734A>C (p.Asn245Thr) n.906A>C n.418A>C n.300A>C c.878A>C (p.Asn293Thr) c.-4294966094A>C c.752A>C (p.Asn251Thr) c.680A>C (p.Asn227Thr) | |
7 | g.139962034A>G | CA369584705 | TBXAS1 | c.935A>G (p.Asn312Ser) c.*724A>G (n.*724A>G) c.1073A>G (p.Asn358Ser) c.938A>G (p.Asn313Ser) c.1076A>G (p.Asn359Ser) c.734A>G (p.Asn245Ser) n.906A>G n.418A>G n.300A>G c.878A>G (p.Asn293Ser) c.-4294966094A>G c.752A>G (p.Asn251Ser) c.680A>G (p.Asn227Ser) | |
7 | g.139962034A>T | CA369584707 | TBXAS1 | c.935A>T (p.Asn312Ile) c.*724A>T (n.*724A>T) c.1073A>T (p.Asn358Ile) c.938A>T (p.Asn313Ile) c.1076A>T (p.Asn359Ile) c.734A>T (p.Asn245Ile) n.906A>T n.418A>T n.300A>T c.878A>T (p.Asn293Ile) c.-4294966094A>T c.752A>T (p.Asn251Ile) c.680A>T (p.Asn227Ile) | |
7 | g.139962035C>A | CA369584712 | TBXAS1 | c.936C>A (p.Asn312Lys) c.*725C>A (n.*725C>A) c.1074C>A (p.Asn358Lys) c.939C>A (p.Asn313Lys) c.1077C>A (p.Asn359Lys) c.735C>A (p.Asn245Lys) n.907C>A n.419C>A n.301C>A c.879C>A (p.Asn293Lys) c.-4294966093C>A c.753C>A (p.Asn251Lys) c.681C>A (p.Asn227Lys) | dbSNP |
7 | g.139962035C= | CA1747341064 | TBXAS1 | c.936C= (p.Asn312=) c.*725C= (n.*725C=) c.1074C= (p.Asn358=) c.939C= (p.Asn313=) c.1077C= (p.Asn359=) c.735C= (p.Asn245=) n.907C= n.419C= n.301C= c.879C= (p.Asn293=) c.-4294966093C= c.753C= (p.Asn251=) c.681C= (p.Asn227=) | |
7 | g.139962035C>G | CA369584710 | TBXAS1 | c.936C>G (p.Asn312Lys) c.*725C>G (n.*725C>G) c.1074C>G (p.Asn358Lys) c.939C>G (p.Asn313Lys) c.1077C>G (p.Asn359Lys) c.735C>G (p.Asn245Lys) n.907C>G n.419C>G n.301C>G c.879C>G (p.Asn293Lys) c.-4294966093C>G c.753C>G (p.Asn251Lys) c.681C>G (p.Asn227Lys) | dbSNP |
7 | g.139962035C>T | CA458115427 | TBXAS1 | c.936C>T (p.Asn312=) c.*725C>T (n.*725C>T) c.1074C>T (p.Asn358=) c.939C>T (p.Asn313=) c.1077C>T (p.Asn359=) c.735C>T (p.Asn245=) n.907C>T n.419C>T n.301C>T c.879C>T (p.Asn293=) c.-4294966093C>T c.753C>T (p.Asn251=) c.681C>T (p.Asn227=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.139962036C>A | CA369584717 | TBXAS1 | c.937C>A (p.Pro313Thr) c.*726C>A (n.*726C>A) c.1075C>A (p.Pro359Thr) c.940C>A (p.Pro314Thr) c.1078C>A (p.Pro360Thr) c.736C>A (p.Pro246Thr) n.908C>A n.420C>A n.302C>A c.880C>A (p.Pro294Thr) c.-4294966092C>A c.754C>A (p.Pro252Thr) c.682C>A (p.Pro228Thr) | ClinVar gnomAD v4 |
7 | g.139962036C>G | CA369584723 | TBXAS1 | c.937C>G (p.Pro313Ala) c.*726C>G (n.*726C>G) c.1075C>G (p.Pro359Ala) c.940C>G (p.Pro314Ala) c.1078C>G (p.Pro360Ala) c.736C>G (p.Pro246Ala) n.908C>G n.420C>G n.302C>G c.880C>G (p.Pro294Ala) c.-4294966092C>G c.754C>G (p.Pro252Ala) c.682C>G (p.Pro228Ala) | |
7 | g.139962036C>T | CA369584720 | TBXAS1 | c.937C>T (p.Pro313Ser) c.*726C>T (n.*726C>T) c.1075C>T (p.Pro359Ser) c.940C>T (p.Pro314Ser) c.1078C>T (p.Pro360Ser) c.736C>T (p.Pro246Ser) n.908C>T n.420C>T n.302C>T c.880C>T (p.Pro294Ser) c.-4294966092C>T c.754C>T (p.Pro252Ser) c.682C>T (p.Pro228Ser) | |
7 | g.139962037C>A | CA369584728 | TBXAS1 | c.938C>A (p.Pro313His) c.*727C>A (n.*727C>A) c.1076C>A (p.Pro359His) c.941C>A (p.Pro314His) c.1079C>A (p.Pro360His) c.737C>A (p.Pro246His) n.909C>A n.421C>A n.303C>A c.881C>A (p.Pro294His) c.-4294966091C>A c.755C>A (p.Pro252His) c.683C>A (p.Pro228His) | |
7 | g.139962037C>G | CA369584731 | TBXAS1 | c.938C>G (p.Pro313Arg) c.*727C>G (n.*727C>G) c.1076C>G (p.Pro359Arg) c.941C>G (p.Pro314Arg) c.1079C>G (p.Pro360Arg) c.737C>G (p.Pro246Arg) n.909C>G n.421C>G n.303C>G c.881C>G (p.Pro294Arg) c.-4294966091C>G c.755C>G (p.Pro252Arg) c.683C>G (p.Pro228Arg) | |
7 | g.139962037C>T | CA369584734 | TBXAS1 | c.938C>T (p.Pro313Leu) c.*727C>T (n.*727C>T) c.1076C>T (p.Pro359Leu) c.941C>T (p.Pro314Leu) c.1079C>T (p.Pro360Leu) c.737C>T (p.Pro246Leu) n.909C>T n.421C>T n.303C>T c.881C>T (p.Pro294Leu) c.-4294966091C>T c.755C>T (p.Pro252Leu) c.683C>T (p.Pro228Leu) | COSMIC COSMIC |
7 | g.139962038T>A | CA458115429 | TBXAS1 | c.939T>A (p.Pro313=) c.*728T>A (n.*728T>A) c.1077T>A (p.Pro359=) c.942T>A (p.Pro314=) c.1080T>A (p.Pro360=) c.738T>A (p.Pro246=) n.910T>A n.422T>A n.304T>A c.882T>A (p.Pro294=) c.-4294966090T>A c.756T>A (p.Pro252=) c.684T>A (p.Pro228=) | |
7 | g.139962038T>C | CA167953444 | TBXAS1 | c.939T>C (p.Pro313=) c.*728T>C (n.*728T>C) c.1077T>C (p.Pro359=) c.942T>C (p.Pro314=) c.1080T>C (p.Pro360=) c.738T>C (p.Pro246=) n.910T>C n.422T>C n.304T>C c.882T>C (p.Pro294=) c.-4294966090T>C c.756T>C (p.Pro252=) c.684T>C (p.Pro228=) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.139962038T>G | CA458115428 | TBXAS1 | c.939T>G (p.Pro313=) c.*728T>G (n.*728T>G) c.1077T>G (p.Pro359=) c.942T>G (p.Pro314=) c.1080T>G (p.Pro360=) c.738T>G (p.Pro246=) n.910T>G n.422T>G n.304T>G c.882T>G (p.Pro294=) c.-4294966090T>G c.756T>G (p.Pro252=) c.684T>G (p.Pro228=) | |
7 | g.139962038T= | CA1747341065 | TBXAS1 | c.939T= (p.Pro313=) c.*728T= (n.*728T=) c.1077T= (p.Pro359=) c.942T= (p.Pro314=) c.1080T= (p.Pro360=) c.738T= (p.Pro246=) n.910T= n.422T= n.304T= c.882T= (p.Pro294=) c.-4294966090T= c.756T= (p.Pro252=) c.684T= (p.Pro228=) | |
7 | g.139962039T>A | CA369584738 | TBXAS1 | c.940T>A (p.Ser314Thr) c.*729T>A (n.*729T>A) c.1078T>A (p.Ser360Thr) c.943T>A (p.Ser315Thr) c.1081T>A (p.Ser361Thr) c.739T>A (p.Ser247Thr) n.911T>A n.423T>A n.305T>A c.883T>A (p.Ser295Thr) c.-4294966089T>A c.757T>A (p.Ser253Thr) c.685T>A (p.Ser229Thr) | |
7 | g.139962039T>C | CA369584739 | TBXAS1 | c.940T>C (p.Ser314Pro) c.*729T>C (n.*729T>C) c.1078T>C (p.Ser360Pro) c.943T>C (p.Ser315Pro) c.1081T>C (p.Ser361Pro) c.739T>C (p.Ser247Pro) n.911T>C n.423T>C n.305T>C c.883T>C (p.Ser295Pro) c.-4294966089T>C c.757T>C (p.Ser253Pro) c.685T>C (p.Ser229Pro) | |
7 | g.139962039T>G | CA369584742 | TBXAS1 | c.940T>G (p.Ser314Ala) c.*729T>G (n.*729T>G) c.1078T>G (p.Ser360Ala) c.943T>G (p.Ser315Ala) c.1081T>G (p.Ser361Ala) c.739T>G (p.Ser247Ala) n.911T>G n.423T>G n.305T>G c.883T>G (p.Ser295Ala) c.-4294966089T>G c.757T>G (p.Ser253Ala) c.685T>G (p.Ser229Ala) | |
7 | g.139962039_139962040delinsTC | CA1747341066 | TBXAS1 | c.940_941delinsTC (p.Ser314=) c.*729_*730delinsTC (n.*729_*730delinsTC) c.1078_1079delinsTC (p.Ser360=) c.943_944delinsTC (p.Ser315=) c.1081_1082delinsTC (p.Ser361=) c.739_740delinsTC (p.Ser247=) n.911_912delinsTC n.423_424delinsTC n.305_306delinsTC c.883_884delinsTC (p.Ser295=) c.-4294966089_-4294966088delinsTC c.757_758delinsTC (p.Ser253=) c.685_686delinsTC (p.Ser229=) | |
7 | g.139962040C>A | CA369584745 | TBXAS1 | c.941C>A (p.Ser314Tyr) c.*730C>A (n.*730C>A) c.1079C>A (p.Ser360Tyr) c.944C>A (p.Ser315Tyr) c.1082C>A (p.Ser361Tyr) c.740C>A (p.Ser247Tyr) n.912C>A n.424C>A n.306C>A c.884C>A (p.Ser295Tyr) c.-4294966088C>A c.758C>A (p.Ser253Tyr) c.686C>A (p.Ser229Tyr) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.139962040C= | CA1747341067 | TBXAS1 | c.941C= (p.Ser314=) c.*730C= (n.*730C=) c.1079C= (p.Ser360=) c.944C= (p.Ser315=) c.1082C= (p.Ser361=) c.740C= (p.Ser247=) n.912C= n.424C= n.306C= c.884C= (p.Ser295=) c.-4294966088C= c.758C= (p.Ser253=) c.686C= (p.Ser229=) | |
7 | g.139962040C>G | CA369584748 | TBXAS1 | c.941C>G (p.Ser314Cys) c.*730C>G (n.*730C>G) c.1079C>G (p.Ser360Cys) c.944C>G (p.Ser315Cys) c.1082C>G (p.Ser361Cys) c.740C>G (p.Ser247Cys) n.912C>G n.424C>G n.306C>G c.884C>G (p.Ser295Cys) c.-4294966088C>G c.758C>G (p.Ser253Cys) c.686C>G (p.Ser229Cys) | |
7 | g.139962040C>T | CA369584750 | TBXAS1 | c.941C>T (p.Ser314Phe) c.*730C>T (n.*730C>T) c.1079C>T (p.Ser360Phe) c.944C>T (p.Ser315Phe) c.1082C>T (p.Ser361Phe) c.740C>T (p.Ser247Phe) n.912C>T n.424C>T n.306C>T c.884C>T (p.Ser295Phe) c.-4294966088C>T c.758C>T (p.Ser253Phe) c.686C>T (p.Ser229Phe) | COSMIC COSMIC |
7 | g.139962042del | CA167953445 | TBXAS1 | c.943del (p.Arg315GlyfsTer12) c.*732del (n.*732del) c.1081del (p.Arg361GlyfsTer12) c.946del (p.Arg316GlyfsTer12) c.1084del (p.Arg362GlyfsTer12) c.742del (p.Arg248GlyfsTer12) n.914del n.426del n.308del c.886del (p.Arg296GlyfsTer12) c.-4294966086del c.760del (p.Arg254GlyfsTer12) c.688del (p.Arg230GlyfsTer12) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.139962041C>A | CA458115430 | TBXAS1 | c.942C>A (p.Ser314=) c.*731C>A (n.*731C>A) c.1080C>A (p.Ser360=) c.945C>A (p.Ser315=) c.1083C>A (p.Ser361=) c.741C>A (p.Ser247=) n.913C>A n.425C>A n.307C>A c.885C>A (p.Ser295=) c.-4294966087C>A c.759C>A (p.Ser253=) c.687C>A (p.Ser229=) | gnomAD v4 |
7 | g.139962041C>G | CA458115431 | TBXAS1 | c.942C>G (p.Ser314=) c.*731C>G (n.*731C>G) c.1080C>G (p.Ser360=) c.945C>G (p.Ser315=) c.1083C>G (p.Ser361=) c.741C>G (p.Ser247=) n.913C>G n.425C>G n.307C>G c.885C>G (p.Ser295=) c.-4294966087C>G c.759C>G (p.Ser253=) c.687C>G (p.Ser229=) | |
7 | g.139962041C>T | CA458115432 | TBXAS1 | c.942C>T (p.Ser314=) c.*731C>T (n.*731C>T) c.1080C>T (p.Ser360=) c.945C>T (p.Ser315=) c.1083C>T (p.Ser361=) c.741C>T (p.Ser247=) n.913C>T n.425C>T n.307C>T c.885C>T (p.Ser295=) c.-4294966087C>T c.759C>T (p.Ser253=) c.687C>T (p.Ser229=) | gnomAD v4 |
7 | g.139962042C>A | CA458115433 | TBXAS1 | c.943C>A (p.Arg315=) c.*732C>A (n.*732C>A) c.1081C>A (p.Arg361=) c.946C>A (p.Arg316=) c.1084C>A (p.Arg362=) c.742C>A (p.Arg248=) n.914C>A n.426C>A n.308C>A c.886C>A (p.Arg296=) c.-4294966086C>A c.760C>A (p.Arg254=) c.688C>A (p.Arg230=) | |
7 | g.139962042C= | CA1747341068 | TBXAS1 | c.943C= (p.Arg315=) c.*732C= (n.*732C=) c.1081C= (p.Arg361=) c.946C= (p.Arg316=) c.1084C= (p.Arg362=) c.742C= (p.Arg248=) n.914C= n.426C= n.308C= c.886C= (p.Arg296=) c.-4294966086C= c.760C= (p.Arg254=) c.688C= (p.Arg230=) | |
7 | g.139962042C>G | CA369584755 | TBXAS1 | c.943C>G (p.Arg315Gly) c.*732C>G (n.*732C>G) c.1081C>G (p.Arg361Gly) c.946C>G (p.Arg316Gly) c.1084C>G (p.Arg362Gly) c.742C>G (p.Arg248Gly) n.914C>G n.426C>G n.308C>G c.886C>G (p.Arg296Gly) c.-4294966086C>G c.760C>G (p.Arg254Gly) c.688C>G (p.Arg230Gly) | |
7 | g.139962042C>T | CA369584757 | TBXAS1 | c.943C>T (p.Arg315Trp) c.*732C>T (n.*732C>T) c.1081C>T (p.Arg361Trp) c.946C>T (p.Arg316Trp) c.1084C>T (p.Arg362Trp) c.742C>T (p.Arg248Trp) n.914C>T n.426C>T n.308C>T c.886C>T (p.Arg296Trp) c.-4294966086C>T c.760C>T (p.Arg254Trp) c.688C>T (p.Arg230Trp) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.139962043G>A | CA4511854 | TBXAS1 | c.944G>A (p.Arg315Gln) c.*733G>A (n.*733G>A) c.1082G>A (p.Arg361Gln) c.947G>A (p.Arg316Gln) c.1085G>A (p.Arg362Gln) c.743G>A (p.Arg248Gln) n.915G>A n.427G>A n.309G>A c.887G>A (p.Arg296Gln) c.-4294966085G>A c.761G>A (p.Arg254Gln) c.689G>A (p.Arg230Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.139962043G>C | CA369584763 | TBXAS1 | c.944G>C (p.Arg315Pro) c.*733G>C (n.*733G>C) c.1082G>C (p.Arg361Pro) c.947G>C (p.Arg316Pro) c.1085G>C (p.Arg362Pro) c.743G>C (p.Arg248Pro) n.915G>C n.427G>C n.309G>C c.887G>C (p.Arg296Pro) c.-4294966085G>C c.761G>C (p.Arg254Pro) c.689G>C (p.Arg230Pro) | |
7 | g.139962043G= | CA1747341069 | TBXAS1 | c.944G= (p.Arg315=) c.*733G= (n.*733G=) c.1082G= (p.Arg361=) c.947G= (p.Arg316=) c.1085G= (p.Arg362=) c.743G= (p.Arg248=) n.915G= n.427G= n.309G= c.887G= (p.Arg296=) c.-4294966085G= c.761G= (p.Arg254=) c.689G= (p.Arg230=) | |
7 | g.139962043G>T | CA369584761 | TBXAS1 | c.944G>T (p.Arg315Leu) c.*733G>T (n.*733G>T) c.1082G>T (p.Arg361Leu) c.947G>T (p.Arg316Leu) c.1085G>T (p.Arg362Leu) c.743G>T (p.Arg248Leu) n.915G>T n.427G>T n.309G>T c.887G>T (p.Arg296Leu) c.-4294966085G>T c.761G>T (p.Arg254Leu) c.689G>T (p.Arg230Leu) | |
7 | g.139962044G>A | CA458115435 | TBXAS1 | c.945G>A (p.Arg315=) c.*734G>A (n.*734G>A) c.1083G>A (p.Arg361=) c.948G>A (p.Arg316=) c.1086G>A (p.Arg362=) c.744G>A (p.Arg248=) n.916G>A n.428G>A n.310G>A c.888G>A (p.Arg296=) c.-4294966084G>A c.762G>A (p.Arg254=) c.690G>A (p.Arg230=) | |
7 | g.139962044G>C | CA458115434 | TBXAS1 | c.945G>C (p.Arg315=) c.*734G>C (n.*734G>C) c.1083G>C (p.Arg361=) c.948G>C (p.Arg316=) c.1086G>C (p.Arg362=) c.744G>C (p.Arg248=) n.916G>C n.428G>C n.310G>C c.888G>C (p.Arg296=) c.-4294966084G>C c.762G>C (p.Arg254=) c.690G>C (p.Arg230=) | |
7 | g.139962044G>T | CA458115436 | TBXAS1 | c.945G>T (p.Arg315=) c.*734G>T (n.*734G>T) c.1083G>T (p.Arg361=) c.948G>T (p.Arg316=) c.1086G>T (p.Arg362=) c.744G>T (p.Arg248=) n.916G>T n.428G>T n.310G>T c.888G>T (p.Arg296=) c.-4294966084G>T c.762G>T (p.Arg254=) c.690G>T (p.Arg230=) | |
7 | g.139962045C>A | CA167953446 | TBXAS1 | c.946C>A (p.Gln316Lys) c.*735C>A (n.*735C>A) c.1084C>A (p.Gln362Lys) c.949C>A (p.Gln317Lys) c.1087C>A (p.Gln363Lys) c.745C>A (p.Gln249Lys) n.917C>A n.429C>A n.311C>A c.889C>A (p.Gln297Lys) c.-4294966083C>A c.763C>A (p.Gln255Lys) c.691C>A (p.Gln231Lys) | dbSNP |
7 | g.139962045C= | CA1747341070 | TBXAS1 | c.946C= (p.Gln316=) c.*735C= (n.*735C=) c.1084C= (p.Gln362=) c.949C= (p.Gln317=) c.1087C= (p.Gln363=) c.745C= (p.Gln249=) n.917C= n.429C= n.311C= c.889C= (p.Gln297=) c.-4294966083C= c.763C= (p.Gln255=) c.691C= (p.Gln231=) | |
7 | g.139962045C>G | CA369584769 | TBXAS1 | c.946C>G (p.Gln316Glu) c.*735C>G (n.*735C>G) c.1084C>G (p.Gln362Glu) c.949C>G (p.Gln317Glu) c.1087C>G (p.Gln363Glu) c.745C>G (p.Gln249Glu) n.917C>G n.429C>G n.311C>G c.889C>G (p.Gln297Glu) c.-4294966083C>G c.763C>G (p.Gln255Glu) c.691C>G (p.Gln231Glu) | |
7 | g.139962045C>T | CA369584772 | TBXAS1 | c.946C>T (p.Gln316Ter) c.*735C>T (n.*735C>T) c.1084C>T (p.Gln362Ter) c.949C>T (p.Gln317Ter) c.1087C>T (p.Gln363Ter) c.745C>T (p.Gln249Ter) n.917C>T n.429C>T n.311C>T c.889C>T (p.Gln297Ter) c.-4294966083C>T c.763C>T (p.Gln255Ter) c.691C>T (p.Gln231Ter) | gnomAD v4 |
7 | g.139962046A>C | CA369584775 | TBXAS1 | c.947A>C (p.Gln316Pro) c.*736A>C (n.*736A>C) c.1085A>C (p.Gln362Pro) c.950A>C (p.Gln317Pro) c.1088A>C (p.Gln363Pro) c.746A>C (p.Gln249Pro) n.918A>C n.430A>C n.312A>C c.890A>C (p.Gln297Pro) c.-4294966082A>C c.764A>C (p.Gln255Pro) c.692A>C (p.Gln231Pro) | |
7 | g.139962046A>G | CA369584776 | TBXAS1 | c.947A>G (p.Gln316Arg) c.*736A>G (n.*736A>G) c.1085A>G (p.Gln362Arg) c.950A>G (p.Gln317Arg) c.1088A>G (p.Gln363Arg) c.746A>G (p.Gln249Arg) n.918A>G n.430A>G n.312A>G c.890A>G (p.Gln297Arg) c.-4294966082A>G c.764A>G (p.Gln255Arg) c.692A>G (p.Gln231Arg) | |
7 | g.139962046A>T | CA369584779 | TBXAS1 | c.947A>T (p.Gln316Leu) c.*736A>T (n.*736A>T) c.1085A>T (p.Gln362Leu) c.950A>T (p.Gln317Leu) c.1088A>T (p.Gln363Leu) c.746A>T (p.Gln249Leu) n.918A>T n.430A>T n.312A>T c.890A>T (p.Gln297Leu) c.-4294966082A>T c.764A>T (p.Gln255Leu) c.692A>T (p.Gln231Leu) | |
7 | g.139962046_139962048delinsAAC | CA1747341071 | TBXAS1 | c.947_949delinsAAC (p.Gln316=) c.*736_*738delinsAAC (n.*736_*738delinsAAC) c.1085_1087delinsAAC (p.Gln362=) c.950_952delinsAAC (p.Gln317=) c.1088_1090delinsAAC (p.Gln363=) c.746_748delinsAAC (p.Gln249=) n.918_920delinsAAC n.430_432delinsAAC n.312_314delinsAAC c.890_892delinsAAC (p.Gln297=) c.-4294966082_-4294966080delinsAAC c.764_766delinsAAC (p.Gln255=) c.692_694delinsAAC (p.Gln231=) | |
7 | g.139962047A>C | CA369584781 | TBXAS1 | c.948A>C (p.Gln316His) c.*737A>C (n.*737A>C) c.1086A>C (p.Gln362His) c.951A>C (p.Gln317His) c.1089A>C (p.Gln363His) c.747A>C (p.Gln249His) n.919A>C n.431A>C n.313A>C c.891A>C (p.Gln297His) c.-4294966081A>C c.765A>C (p.Gln255His) c.693A>C (p.Gln231His) | |
7 | g.139962047A>G | CA458115437 | TBXAS1 | c.948A>G (p.Gln316=) c.*737A>G (n.*737A>G) c.1086A>G (p.Gln362=) c.951A>G (p.Gln317=) c.1089A>G (p.Gln363=) c.747A>G (p.Gln249=) n.919A>G n.431A>G n.313A>G c.891A>G (p.Gln297=) c.-4294966081A>G c.765A>G (p.Gln255=) c.693A>G (p.Gln231=) | |
7 | g.139962047A>T | CA369584782 | TBXAS1 | c.948A>T (p.Gln316His) c.*737A>T (n.*737A>T) c.1086A>T (p.Gln362His) c.951A>T (p.Gln317His) c.1089A>T (p.Gln363His) c.747A>T (p.Gln249His) n.919A>T n.431A>T n.313A>T c.891A>T (p.Gln297His) c.-4294966081A>T c.765A>T (p.Gln255His) c.693A>T (p.Gln231His) | |
7 | g.139962049_139962050del | CA4511855 | TBXAS1 | c.950_951del (p.His317ProfsTer13) c.*739_*740del (n.*739_*740del) c.1088_1089del (p.His363ProfsTer13) c.953_954del (p.His318ProfsTer13) c.1091_1092del (p.His364ProfsTer13) c.749_750del (p.His250ProfsTer13) n.921_922del n.433_434del n.315_316del c.893_894del (p.His298ProfsTer13) c.-4294966079_-4294966078del c.767_768del (p.His256ProfsTer13) c.695_696del (p.His232ProfsTer13) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.139962048C>A | CA369584783 | TBXAS1 | c.949C>A (p.His317Asn) c.*738C>A (n.*738C>A) c.1087C>A (p.His363Asn) c.952C>A (p.His318Asn) c.1090C>A (p.His364Asn) c.748C>A (p.His250Asn) n.920C>A n.432C>A n.314C>A c.892C>A (p.His298Asn) c.-4294966080C>A c.766C>A (p.His256Asn) c.694C>A (p.His232Asn) | |
7 | g.139962048C= | CA1747341072 | TBXAS1 | c.949C= (p.His317=) c.*738C= (n.*738C=) c.1087C= (p.His363=) c.952C= (p.His318=) c.1090C= (p.His364=) c.748C= (p.His250=) n.920C= n.432C= n.314C= c.892C= (p.His298=) c.-4294966080C= c.766C= (p.His256=) c.694C= (p.His232=) | |
7 | g.139962048C>G | CA369584784 | TBXAS1 | c.949C>G (p.His317Asp) c.*738C>G (n.*738C>G) c.1087C>G (p.His363Asp) c.952C>G (p.His318Asp) c.1090C>G (p.His364Asp) c.748C>G (p.His250Asp) n.920C>G n.432C>G n.314C>G c.892C>G (p.His298Asp) c.-4294966080C>G c.766C>G (p.His256Asp) c.694C>G (p.His232Asp) | dbSNP gnomAD v4 |
7 | g.139962048C>T | CA369584785 | TBXAS1 | c.949C>T (p.His317Tyr) c.*738C>T (n.*738C>T) c.1087C>T (p.His363Tyr) c.952C>T (p.His318Tyr) c.1090C>T (p.His364Tyr) c.748C>T (p.His250Tyr) n.920C>T n.432C>T n.314C>T c.892C>T (p.His298Tyr) c.-4294966080C>T c.766C>T (p.His256Tyr) c.694C>T (p.His232Tyr) | dbSNP |
7 | g.139962049A= | CA1747341073 | TBXAS1 | c.950A= (p.His317=) c.*739A= (n.*739A=) c.1088A= (p.His363=) c.953A= (p.His318=) c.1091A= (p.His364=) c.749A= (p.His250=) n.921A= n.433A= n.315A= c.893A= (p.His298=) c.-4294966079A= c.767A= (p.His256=) c.695A= (p.His232=) | |
7 | g.139962049A>C | CA369584787 | TBXAS1 | c.950A>C (p.His317Pro) c.*739A>C (n.*739A>C) c.1088A>C (p.His363Pro) c.953A>C (p.His318Pro) c.1091A>C (p.His364Pro) c.749A>C (p.His250Pro) n.921A>C n.433A>C n.315A>C c.893A>C (p.His298Pro) c.-4294966079A>C c.767A>C (p.His256Pro) c.695A>C (p.His232Pro) | |
7 | g.139962049A>G | CA369584788 | TBXAS1 | c.950A>G (p.His317Arg) c.*739A>G (n.*739A>G) c.1088A>G (p.His363Arg) c.953A>G (p.His318Arg) c.1091A>G (p.His364Arg) c.749A>G (p.His250Arg) n.921A>G n.433A>G n.315A>G c.893A>G (p.His298Arg) c.-4294966079A>G c.767A>G (p.His256Arg) c.695A>G (p.His232Arg) | gnomAD v4 |
7 | g.139962049A>T | CA369584786 | TBXAS1 | c.950A>T (p.His317Leu) c.*739A>T (n.*739A>T) c.1088A>T (p.His363Leu) c.953A>T (p.His318Leu) c.1091A>T (p.His364Leu) c.749A>T (p.His250Leu) n.921A>T n.433A>T n.315A>T c.893A>T (p.His298Leu) c.-4294966079A>T c.767A>T (p.His256Leu) c.695A>T (p.His232Leu) | |
7 | g.139962050C>A | CA369584789 | TBXAS1 | c.951C>A (p.His317Gln) c.*740C>A (n.*740C>A) c.1089C>A (p.His363Gln) c.954C>A (p.His318Gln) c.1092C>A (p.His364Gln) c.750C>A (p.His250Gln) n.922C>A n.434C>A n.316C>A c.894C>A (p.His298Gln) c.-4294966078C>A c.768C>A (p.His256Gln) c.696C>A (p.His232Gln) | |
7 | g.139962050C= | CA1747341074 | TBXAS1 | c.951C= (p.His317=) c.*740C= (n.*740C=) c.1089C= (p.His363=) c.954C= (p.His318=) c.1092C= (p.His364=) c.750C= (p.His250=) n.922C= n.434C= n.316C= c.894C= (p.His298=) c.-4294966078C= c.768C= (p.His256=) c.696C= (p.His232=) | |
7 | g.139962050C>G | CA369584790 | TBXAS1 | c.951C>G (p.His317Gln) c.*740C>G (n.*740C>G) c.1089C>G (p.His363Gln) c.954C>G (p.His318Gln) c.1092C>G (p.His364Gln) c.750C>G (p.His250Gln) n.922C>G n.434C>G n.316C>G c.894C>G (p.His298Gln) c.-4294966078C>G c.768C>G (p.His256Gln) c.696C>G (p.His232Gln) | |
7 | g.139962050C>T | CA4511857 | TBXAS1 | c.951C>T (p.His317=) c.*740C>T (n.*740C>T) c.1089C>T (p.His363=) c.954C>T (p.His318=) c.1092C>T (p.His364=) c.750C>T (p.His250=) n.922C>T n.434C>T n.316C>T c.894C>T (p.His298=) c.-4294966078C>T c.768C>T (p.His256=) c.696C>T (p.His232=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.139962057_139962061dup | CA4511856 | TBXAS1 | c.958_962dup (p.Met322AlafsTer7) c.*747_*751dup (n.*747_*751dup) c.1096_1100dup (p.Met368AlafsTer7) c.961_965dup (p.Met323AlafsTer7) c.1099_1103dup (p.Met369AlafsTer7) c.757_761dup (p.Met255AlafsTer7) n.929_933dup n.441_445dup n.323_327dup c.901_905dup (p.Met303AlafsTer7) c.-4294966071_-4294966067dup c.775_779dup (p.Met261AlafsTer7) c.703_707dup (p.Met237AlafsTer7) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.139962051C>A | CA369584791 | TBXAS1 | c.952C>A (p.Gln318Lys) c.*741C>A (n.*741C>A) c.1090C>A (p.Gln364Lys) c.955C>A (p.Gln319Lys) c.1093C>A (p.Gln365Lys) c.751C>A (p.Gln251Lys) n.923C>A n.435C>A n.317C>A c.895C>A (p.Gln299Lys) c.-4294966077C>A c.769C>A (p.Gln257Lys) c.697C>A (p.Gln233Lys) | |
7 | g.139962051C= | CA1747341075 | TBXAS1 | c.952C= (p.Gln318=) c.*741C= (n.*741C=) c.1090C= (p.Gln364=) c.955C= (p.Gln319=) c.1093C= (p.Gln365=) c.751C= (p.Gln251=) n.923C= n.435C= n.317C= c.895C= (p.Gln299=) c.-4294966077C= c.769C= (p.Gln257=) c.697C= (p.Gln233=) | |
7 | g.139962051C>G | CA4511858 | TBXAS1 | c.952C>G (p.Gln318Glu) c.*741C>G (n.*741C>G) c.1090C>G (p.Gln364Glu) c.955C>G (p.Gln319Glu) c.1093C>G (p.Gln365Glu) c.751C>G (p.Gln251Glu) n.923C>G n.435C>G n.317C>G c.895C>G (p.Gln299Glu) c.-4294966077C>G c.769C>G (p.Gln257Glu) c.697C>G (p.Gln233Glu) | dbSNP ExAC gnomAD v4 |
7 | g.139962051C>T | CA369584792 | TBXAS1 | c.952C>T (p.Gln318Ter) c.*741C>T (n.*741C>T) c.1090C>T (p.Gln364Ter) c.955C>T (p.Gln319Ter) c.1093C>T (p.Gln365Ter) c.751C>T (p.Gln251Ter) n.923C>T n.435C>T n.317C>T c.895C>T (p.Gln299Ter) c.-4294966077C>T c.769C>T (p.Gln257Ter) c.697C>T (p.Gln233Ter) | dbSNP |
7 | g.139962052A= | CA1747341076 | TBXAS1 | c.953A= (p.Gln318=) c.*742A= (n.*742A=) c.1091A= (p.Gln364=) c.956A= (p.Gln319=) c.1094A= (p.Gln365=) c.752A= (p.Gln251=) n.924A= n.436A= n.318A= c.896A= (p.Gln299=) c.-4294966076A= c.770A= (p.Gln257=) c.698A= (p.Gln233=) | |
7 | g.139962052A>C | CA369584793 | TBXAS1 | c.953A>C (p.Gln318Pro) c.*742A>C (n.*742A>C) c.1091A>C (p.Gln364Pro) c.956A>C (p.Gln319Pro) c.1094A>C (p.Gln365Pro) c.752A>C (p.Gln251Pro) n.924A>C n.436A>C n.318A>C c.896A>C (p.Gln299Pro) c.-4294966076A>C c.770A>C (p.Gln257Pro) c.698A>C (p.Gln233Pro) | |
7 | g.139962052A>G | CA369584794 | TBXAS1 | c.953A>G (p.Gln318Arg) c.*742A>G (n.*742A>G) c.1091A>G (p.Gln364Arg) c.956A>G (p.Gln319Arg) c.1094A>G (p.Gln365Arg) c.752A>G (p.Gln251Arg) n.924A>G n.436A>G n.318A>G c.896A>G (p.Gln299Arg) c.-4294966076A>G c.770A>G (p.Gln257Arg) c.698A>G (p.Gln233Arg) | |
7 | g.139962052A>T | CA369584795 | TBXAS1 | c.953A>T (p.Gln318Leu) c.*742A>T (n.*742A>T) c.1091A>T (p.Gln364Leu) c.956A>T (p.Gln319Leu) c.1094A>T (p.Gln365Leu) c.752A>T (p.Gln251Leu) n.924A>T n.436A>T n.318A>T c.896A>T (p.Gln299Leu) c.-4294966076A>T c.770A>T (p.Gln257Leu) c.698A>T (p.Gln233Leu) | dbSNP |
7 | g.139962053G>A | CA458115438 | TBXAS1 | c.954G>A (p.Gln318=) c.*743G>A (n.*743G>A) c.1092G>A (p.Gln364=) c.957G>A (p.Gln319=) c.1095G>A (p.Gln365=) c.753G>A (p.Gln251=) n.925G>A n.437G>A n.319G>A c.897G>A (p.Gln299=) c.-4294966075G>A c.771G>A (p.Gln257=) c.699G>A (p.Gln233=) | |
7 | g.139962053G>C | CA369584796 | TBXAS1 | c.954G>C (p.Gln318His) c.*743G>C (n.*743G>C) c.1092G>C (p.Gln364His) c.957G>C (p.Gln319His) c.1095G>C (p.Gln365His) c.753G>C (p.Gln251His) n.925G>C n.437G>C n.319G>C c.897G>C (p.Gln299His) c.-4294966075G>C c.771G>C (p.Gln257His) c.699G>C (p.Gln233His) | gnomAD v4 |
7 | g.139962053G>T | CA369584797 | TBXAS1 | c.954G>T (p.Gln318His) c.*743G>T (n.*743G>T) c.1092G>T (p.Gln364His) c.957G>T (p.Gln319His) c.1095G>T (p.Gln365His) c.753G>T (p.Gln251His) n.925G>T n.437G>T n.319G>T c.897G>T (p.Gln299His) c.-4294966075G>T c.771G>T (p.Gln257His) c.699G>T (p.Gln233His) | ClinVar dbSNP |
7 | g.139962054C>A | CA369584803 | TBXAS1 | c.955C>A (p.Pro319Thr) c.*744C>A (n.*744C>A) c.1093C>A (p.Pro365Thr) c.958C>A (p.Pro320Thr) c.1096C>A (p.Pro366Thr) c.754C>A (p.Pro252Thr) n.926C>A n.438C>A n.320C>A c.898C>A (p.Pro300Thr) c.-4294966074C>A c.772C>A (p.Pro258Thr) c.700C>A (p.Pro234Thr) | |
7 | g.139962054C>G | CA369584798 | TBXAS1 | c.955C>G (p.Pro319Ala) c.*744C>G (n.*744C>G) c.1093C>G (p.Pro365Ala) c.958C>G (p.Pro320Ala) c.1096C>G (p.Pro366Ala) c.754C>G (p.Pro252Ala) n.926C>G n.438C>G n.320C>G c.898C>G (p.Pro300Ala) c.-4294966074C>G c.772C>G (p.Pro258Ala) c.700C>G (p.Pro234Ala) | |
7 | g.139962054C>T | CA369584801 | TBXAS1 | c.955C>T (p.Pro319Ser) c.*744C>T (n.*744C>T) c.1093C>T (p.Pro365Ser) c.958C>T (p.Pro320Ser) c.1096C>T (p.Pro366Ser) c.754C>T (p.Pro252Ser) n.926C>T n.438C>T n.320C>T c.898C>T (p.Pro300Ser) c.-4294966074C>T c.772C>T (p.Pro258Ser) c.700C>T (p.Pro234Ser) | gnomAD v4 |
7 | g.139962055C>A | CA369584806 | TBXAS1 | c.956C>A (p.Pro319His) c.*745C>A (n.*745C>A) c.1094C>A (p.Pro365His) c.959C>A (p.Pro320His) c.1097C>A (p.Pro366His) c.755C>A (p.Pro252His) n.927C>A n.439C>A n.321C>A c.899C>A (p.Pro300His) c.-4294966073C>A c.773C>A (p.Pro258His) c.701C>A (p.Pro234His) | |
7 | g.139962055C= | CA1747341077 | TBXAS1 | c.956C= (p.Pro319=) c.*745C= (n.*745C=) c.1094C= (p.Pro365=) c.959C= (p.Pro320=) c.1097C= (p.Pro366=) c.755C= (p.Pro252=) n.927C= n.439C= n.321C= c.899C= (p.Pro300=) c.-4294966073C= c.773C= (p.Pro258=) c.701C= (p.Pro234=) | |
7 | g.139962055C>G | CA4511859 | TBXAS1 | c.956C>G (p.Pro319Arg) c.*745C>G (n.*745C>G) c.1094C>G (p.Pro365Arg) c.959C>G (p.Pro320Arg) c.1097C>G (p.Pro366Arg) c.755C>G (p.Pro252Arg) n.927C>G n.439C>G n.321C>G c.899C>G (p.Pro300Arg) c.-4294966073C>G c.773C>G (p.Pro258Arg) c.701C>G (p.Pro234Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.139962055C>T | CA369584811 | TBXAS1 | c.956C>T (p.Pro319Leu) c.*745C>T (n.*745C>T) c.1094C>T (p.Pro365Leu) c.959C>T (p.Pro320Leu) c.1097C>T (p.Pro366Leu) c.755C>T (p.Pro252Leu) n.927C>T n.439C>T n.321C>T c.899C>T (p.Pro300Leu) c.-4294966073C>T c.773C>T (p.Pro258Leu) c.701C>T (p.Pro234Leu) | COSMIC |
7 | g.139962056C>A | CA458115439 | TBXAS1 | c.957C>A (p.Pro319=) c.*746C>A (n.*746C>A) c.1095C>A (p.Pro365=) c.960C>A (p.Pro320=) c.1098C>A (p.Pro366=) c.756C>A (p.Pro252=) n.928C>A n.440C>A n.322C>A c.900C>A (p.Pro300=) c.-4294966072C>A c.774C>A (p.Pro258=) c.702C>A (p.Pro234=) | |
7 | g.139962056C>G | CA458115440 | TBXAS1 | c.957C>G (p.Pro319=) c.*746C>G (n.*746C>G) c.1095C>G (p.Pro365=) c.960C>G (p.Pro320=) c.1098C>G (p.Pro366=) c.756C>G (p.Pro252=) n.928C>G n.440C>G n.322C>G c.900C>G (p.Pro300=) c.-4294966072C>G c.774C>G (p.Pro258=) c.702C>G (p.Pro234=) | |
7 | g.139962056C>T | CA458115441 | TBXAS1 | c.957C>T (p.Pro319=) c.*746C>T (n.*746C>T) c.1095C>T (p.Pro365=) c.960C>T (p.Pro320=) c.1098C>T (p.Pro366=) c.756C>T (p.Pro252=) n.928C>T n.440C>T n.322C>T c.900C>T (p.Pro300=) c.-4294966072C>T c.774C>T (p.Pro258=) c.702C>T (p.Pro234=) | |
7 | g.139962057A>C | CA369584813 | TBXAS1 | c.958A>C (p.Ser320Arg) c.*747A>C (n.*747A>C) c.1096A>C (p.Ser366Arg) c.961A>C (p.Ser321Arg) c.1099A>C (p.Ser367Arg) c.757A>C (p.Ser253Arg) n.929A>C n.441A>C n.323A>C c.901A>C (p.Ser301Arg) c.-4294966071A>C c.775A>C (p.Ser259Arg) c.703A>C (p.Ser235Arg) | |
7 | g.139962057A>G | CA369584815 | TBXAS1 | c.958A>G (p.Ser320Gly) c.*747A>G (n.*747A>G) c.1096A>G (p.Ser366Gly) c.961A>G (p.Ser321Gly) c.1099A>G (p.Ser367Gly) c.757A>G (p.Ser253Gly) n.929A>G n.441A>G n.323A>G c.901A>G (p.Ser301Gly) c.-4294966071A>G c.775A>G (p.Ser259Gly) c.703A>G (p.Ser235Gly) | |
7 | g.139962057A>T | CA369584817 | TBXAS1 | c.958A>T (p.Ser320Cys) c.*747A>T (n.*747A>T) c.1096A>T (p.Ser366Cys) c.961A>T (p.Ser321Cys) c.1099A>T (p.Ser367Cys) c.757A>T (p.Ser253Cys) n.929A>T n.441A>T n.323A>T c.901A>T (p.Ser301Cys) c.-4294966071A>T c.775A>T (p.Ser259Cys) c.703A>T (p.Ser235Cys) | |
7 | g.139962058G>A | CA369584820 | TBXAS1 | c.959G>A (p.Ser320Asn) c.*748G>A (n.*748G>A) c.1097G>A (p.Ser366Asn) c.962G>A (p.Ser321Asn) c.1100G>A (p.Ser367Asn) c.758G>A (p.Ser253Asn) n.930G>A n.442G>A n.324G>A c.902G>A (p.Ser301Asn) c.-4294966070G>A c.776G>A (p.Ser259Asn) c.704G>A (p.Ser235Asn) | gnomAD v4 |
7 | g.139962058G>C | CA369584822 | TBXAS1 | c.959G>C (p.Ser320Thr) c.*748G>C (n.*748G>C) c.1097G>C (p.Ser366Thr) c.962G>C (p.Ser321Thr) c.1100G>C (p.Ser367Thr) c.758G>C (p.Ser253Thr) n.930G>C n.442G>C n.324G>C c.902G>C (p.Ser301Thr) c.-4294966070G>C c.776G>C (p.Ser259Thr) c.704G>C (p.Ser235Thr) | |
7 | g.139962058G>T | CA369584824 | TBXAS1 | c.959G>T (p.Ser320Ile) c.*748G>T (n.*748G>T) c.1097G>T (p.Ser366Ile) c.962G>T (p.Ser321Ile) c.1100G>T (p.Ser367Ile) c.758G>T (p.Ser253Ile) n.930G>T n.442G>T n.324G>T c.902G>T (p.Ser301Ile) c.-4294966070G>T c.776G>T (p.Ser259Ile) c.704G>T (p.Ser235Ile) | |
7 | g.139962059C>A | CA369584826 | TBXAS1 | c.960C>A (p.Ser320Arg) c.*749C>A (n.*749C>A) c.1098C>A (p.Ser366Arg) c.963C>A (p.Ser321Arg) c.1101C>A (p.Ser367Arg) c.759C>A (p.Ser253Arg) n.931C>A n.443C>A n.325C>A c.903C>A (p.Ser301Arg) c.-4294966069C>A c.777C>A (p.Ser259Arg) c.705C>A (p.Ser235Arg) | |
7 | g.139962059C>G | CA369584829 | TBXAS1 | c.960C>G (p.Ser320Arg) c.*749C>G (n.*749C>G) c.1098C>G (p.Ser366Arg) c.963C>G (p.Ser321Arg) c.1101C>G (p.Ser367Arg) c.759C>G (p.Ser253Arg) n.931C>G n.443C>G n.325C>G c.903C>G (p.Ser301Arg) c.-4294966069C>G c.777C>G (p.Ser259Arg) c.705C>G (p.Ser235Arg) | |
7 | g.139962059C>T | CA458115442 | TBXAS1 | c.960C>T (p.Ser320=) c.*749C>T (n.*749C>T) c.1098C>T (p.Ser366=) c.963C>T (p.Ser321=) c.1101C>T (p.Ser367=) c.759C>T (p.Ser253=) n.931C>T n.443C>T n.325C>T c.903C>T (p.Ser301=) c.-4294966069C>T c.777C>T (p.Ser259=) c.705C>T (p.Ser235=) | COSMIC COSMIC |
7 | g.139962060C>A | CA369584834 | TBXAS1 | c.961C>A (p.Pro321Thr) c.*750C>A (n.*750C>A) c.1099C>A (p.Pro367Thr) c.964C>A (p.Pro322Thr) c.1102C>A (p.Pro368Thr) c.760C>A (p.Pro254Thr) n.932C>A n.444C>A n.326C>A c.904C>A (p.Pro302Thr) c.-4294966068C>A c.778C>A (p.Pro260Thr) c.706C>A (p.Pro236Thr) | |
7 | g.139962060C= | CA1747341078 | TBXAS1 | c.961C= (p.Pro321=) c.*750C= (n.*750C=) c.1099C= (p.Pro367=) c.964C= (p.Pro322=) c.1102C= (p.Pro368=) c.760C= (p.Pro254=) n.932C= n.444C= n.326C= c.904C= (p.Pro302=) c.-4294966068C= c.778C= (p.Pro260=) c.706C= (p.Pro236=) | |
7 | g.139962060C>G | CA369584837 | TBXAS1 | c.961C>G (p.Pro321Ala) c.*750C>G (n.*750C>G) c.1099C>G (p.Pro367Ala) c.964C>G (p.Pro322Ala) c.1102C>G (p.Pro368Ala) c.760C>G (p.Pro254Ala) n.932C>G n.444C>G n.326C>G c.904C>G (p.Pro302Ala) c.-4294966068C>G c.778C>G (p.Pro260Ala) c.706C>G (p.Pro236Ala) | |
7 | g.139962060C>T | CA4511860 | TBXAS1 | c.961C>T (p.Pro321Ser) c.*750C>T (n.*750C>T) c.1099C>T (p.Pro367Ser) c.964C>T (p.Pro322Ser) c.1102C>T (p.Pro368Ser) c.760C>T (p.Pro254Ser) n.932C>T n.444C>T n.326C>T c.904C>T (p.Pro302Ser) c.-4294966068C>T c.778C>T (p.Pro260Ser) c.706C>T (p.Pro236Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
7 | g.139962061C>A | CA369584845 | TBXAS1 | c.962C>A (p.Pro321His) c.*751C>A (n.*751C>A) c.1100C>A (p.Pro367His) c.965C>A (p.Pro322His) c.1103C>A (p.Pro368His) c.761C>A (p.Pro254His) n.933C>A n.445C>A n.327C>A c.905C>A (p.Pro302His) c.-4294966067C>A c.779C>A (p.Pro260His) c.707C>A (p.Pro236His) | |
7 | g.139962061C= | CA1747341079 | TBXAS1 | c.962C= (p.Pro321=) c.*751C= (n.*751C=) c.1100C= (p.Pro367=) c.965C= (p.Pro322=) c.1103C= (p.Pro368=) c.761C= (p.Pro254=) n.933C= n.445C= n.327C= c.905C= (p.Pro302=) c.-4294966067C= c.779C= (p.Pro260=) c.707C= (p.Pro236=) | |
7 | g.139962061C>G | CA4511861 | TBXAS1 | c.962C>G (p.Pro321Arg) c.*751C>G (n.*751C>G) c.1100C>G (p.Pro367Arg) c.965C>G (p.Pro322Arg) c.1103C>G (p.Pro368Arg) c.761C>G (p.Pro254Arg) n.933C>G n.445C>G n.327C>G c.905C>G (p.Pro302Arg) c.-4294966067C>G c.779C>G (p.Pro260Arg) c.707C>G (p.Pro236Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.139962061C>T | CA369584843 | TBXAS1 | c.962C>T (p.Pro321Leu) c.*751C>T (n.*751C>T) c.1100C>T (p.Pro367Leu) c.965C>T (p.Pro322Leu) c.1103C>T (p.Pro368Leu) c.761C>T (p.Pro254Leu) n.933C>T n.445C>T n.327C>T c.905C>T (p.Pro302Leu) c.-4294966067C>T c.779C>T (p.Pro260Leu) c.707C>T (p.Pro236Leu) | |
7 | g.139962062T>A | CA458115443 | TBXAS1 | c.963T>A (p.Pro321=) c.*752T>A (n.*752T>A) c.1101T>A (p.Pro367=) c.966T>A (p.Pro322=) c.1104T>A (p.Pro368=) c.762T>A (p.Pro254=) n.934T>A n.446T>A n.328T>A c.906T>A (p.Pro302=) c.-4294966066T>A c.780T>A (p.Pro260=) c.708T>A (p.Pro236=) | |
7 | g.139962062T>C | CA458115444 | TBXAS1 | c.963T>C (p.Pro321=) c.*752T>C (n.*752T>C) c.1101T>C (p.Pro367=) c.966T>C (p.Pro322=) c.1104T>C (p.Pro368=) c.762T>C (p.Pro254=) n.934T>C n.446T>C n.328T>C c.906T>C (p.Pro302=) c.-4294966066T>C c.780T>C (p.Pro260=) c.708T>C (p.Pro236=) | dbSNP |
7 | g.139962062T>G | CA458115445 | TBXAS1 | c.963T>G (p.Pro321=) c.*752T>G (n.*752T>G) c.1101T>G (p.Pro367=) c.966T>G (p.Pro322=) c.1104T>G (p.Pro368=) c.762T>G (p.Pro254=) n.934T>G n.446T>G n.328T>G c.906T>G (p.Pro302=) c.-4294966066T>G c.780T>G (p.Pro260=) c.708T>G (p.Pro236=) | COSMIC |
7 | g.139962063A= | CA1747341080 | TBXAS1 | c.964A= (p.Met322=) c.*753A= (n.*753A=) c.1102A= (p.Met368=) c.967A= (p.Met323=) c.1105A= (p.Met369=) c.763A= (p.Met255=) n.935A= n.447A= n.329A= c.907A= (p.Met303=) c.-4294966065A= c.781A= (p.Met261=) c.709A= (p.Met237=) | |
7 | g.139962063A>C | CA369584849 | TBXAS1 | c.964A>C (p.Met322Leu) c.*753A>C (n.*753A>C) c.1102A>C (p.Met368Leu) c.967A>C (p.Met323Leu) c.1105A>C (p.Met369Leu) c.763A>C (p.Met255Leu) n.935A>C n.447A>C n.329A>C c.907A>C (p.Met303Leu) c.-4294966065A>C c.781A>C (p.Met261Leu) c.709A>C (p.Met237Leu) | |
7 | g.139962063A>G | CA4511862 | TBXAS1 | c.964A>G (p.Met322Val) c.*753A>G (n.*753A>G) c.1102A>G (p.Met368Val) c.967A>G (p.Met323Val) c.1105A>G (p.Met369Val) c.763A>G (p.Met255Val) n.935A>G n.447A>G n.329A>G c.907A>G (p.Met303Val) c.-4294966065A>G c.781A>G (p.Met261Val) c.709A>G (p.Met237Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.139962063A>T | CA369584853 | TBXAS1 | c.964A>T (p.Met322Leu) c.*753A>T (n.*753A>T) c.1102A>T (p.Met368Leu) c.967A>T (p.Met323Leu) c.1105A>T (p.Met369Leu) c.763A>T (p.Met255Leu) n.935A>T n.447A>T n.329A>T c.907A>T (p.Met303Leu) c.-4294966065A>T c.781A>T (p.Met261Leu) c.709A>T (p.Met237Leu) | |
7 | g.139962064T>A | CA167953447 | TBXAS1 | c.965T>A (p.Met322Lys) c.*754T>A (n.*754T>A) c.1103T>A (p.Met368Lys) c.968T>A (p.Met323Lys) c.1106T>A (p.Met369Lys) c.764T>A (p.Met255Lys) n.936T>A n.448T>A n.330T>A c.908T>A (p.Met303Lys) c.-4294966064T>A c.782T>A (p.Met261Lys) c.710T>A (p.Met237Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.139962064T>C | CA4511863 | TBXAS1 | c.965T>C (p.Met322Thr) c.*754T>C (n.*754T>C) c.1103T>C (p.Met368Thr) c.968T>C (p.Met323Thr) c.1106T>C (p.Met369Thr) c.764T>C (p.Met255Thr) n.936T>C n.448T>C n.330T>C c.908T>C (p.Met303Thr) c.-4294966064T>C c.782T>C (p.Met261Thr) c.710T>C (p.Met237Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.139962064T>G | CA369584859 | TBXAS1 | c.965T>G (p.Met322Arg) c.*754T>G (n.*754T>G) c.1103T>G (p.Met368Arg) c.968T>G (p.Met323Arg) c.1106T>G (p.Met369Arg) c.764T>G (p.Met255Arg) n.936T>G n.448T>G n.330T>G c.908T>G (p.Met303Arg) c.-4294966064T>G c.782T>G (p.Met261Arg) c.710T>G (p.Met237Arg) | |
7 | g.139962064T= | CA1747341081 | TBXAS1 | c.965T= (p.Met322=) c.*754T= (n.*754T=) c.1103T= (p.Met368=) c.968T= (p.Met323=) c.1106T= (p.Met369=) c.764T= (p.Met255=) n.936T= n.448T= n.330T= c.908T= (p.Met303=) c.-4294966064T= c.782T= (p.Met261=) c.710T= (p.Met237=) | |
7 | g.139962065G>A | CA369584863 | TBXAS1 | c.966G>A (p.Met322Ile) c.*755G>A (n.*755G>A) c.1104G>A (p.Met368Ile) c.969G>A (p.Met323Ile) c.1107G>A (p.Met369Ile) c.765G>A (p.Met255Ile) n.937G>A n.449G>A n.331G>A c.909G>A (p.Met303Ile) c.-4294966063G>A c.783G>A (p.Met261Ile) c.711G>A (p.Met237Ile) | gnomAD v4 COSMIC COSMIC |
7 | g.139962065G>C | CA369584865 | TBXAS1 | c.966G>C (p.Met322Ile) c.*755G>C (n.*755G>C) c.1104G>C (p.Met368Ile) c.969G>C (p.Met323Ile) c.1107G>C (p.Met369Ile) c.765G>C (p.Met255Ile) n.937G>C n.449G>C n.331G>C c.909G>C (p.Met303Ile) c.-4294966063G>C c.783G>C (p.Met261Ile) c.711G>C (p.Met237Ile) | |
7 | g.139962065G>T | CA369584868 | TBXAS1 | c.966G>T (p.Met322Ile) c.*755G>T (n.*755G>T) c.1104G>T (p.Met368Ile) c.969G>T (p.Met323Ile) c.1107G>T (p.Met369Ile) c.765G>T (p.Met255Ile) n.937G>T n.449G>T n.331G>T c.909G>T (p.Met303Ile) c.-4294966063G>T c.783G>T (p.Met261Ile) c.711G>T (p.Met237Ile) | |
7 | g.139962066G>A | CA369584877 | TBXAS1 | c.967G>A (p.Ala323Thr) c.*756G>A (n.*756G>A) c.1105G>A (p.Ala369Thr) c.970G>A (p.Ala324Thr) c.1108G>A (p.Ala370Thr) c.766G>A (p.Ala256Thr) n.938G>A n.450G>A n.332G>A c.910G>A (p.Ala304Thr) c.-4294966062G>A c.784G>A (p.Ala262Thr) c.712G>A (p.Ala238Thr) | |
7 | g.139962066G>C | CA4511864 | TBXAS1 | c.967G>C (p.Ala323Pro) c.*756G>C (n.*756G>C) c.1105G>C (p.Ala369Pro) c.970G>C (p.Ala324Pro) c.1108G>C (p.Ala370Pro) c.766G>C (p.Ala256Pro) n.938G>C n.450G>C n.332G>C c.910G>C (p.Ala304Pro) c.-4294966062G>C c.784G>C (p.Ala262Pro) c.712G>C (p.Ala238Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.139962066G= | CA1747341082 | TBXAS1 | c.967G= (p.Ala323=) c.*756G= (n.*756G=) c.1105G= (p.Ala369=) c.970G= (p.Ala324=) c.1108G= (p.Ala370=) c.766G= (p.Ala256=) n.938G= n.450G= n.332G= c.910G= (p.Ala304=) c.-4294966062G= c.784G= (p.Ala262=) c.712G= (p.Ala238=) | |
7 | g.139962066G>T | CA369584872 | TBXAS1 | c.967G>T (p.Ala323Ser) c.*756G>T (n.*756G>T) c.1105G>T (p.Ala369Ser) c.970G>T (p.Ala324Ser) c.1108G>T (p.Ala370Ser) c.766G>T (p.Ala256Ser) n.938G>T n.450G>T n.332G>T c.910G>T (p.Ala304Ser) c.-4294966062G>T c.784G>T (p.Ala262Ser) c.712G>T (p.Ala238Ser) | |
7 | g.139962067C>A | CA369584881 | TBXAS1 | c.968C>A (p.Ala323Asp) c.*757C>A (n.*757C>A) c.1106C>A (p.Ala369Asp) c.971C>A (p.Ala324Asp) c.1109C>A (p.Ala370Asp) c.767C>A (p.Ala256Asp) n.939C>A n.451C>A n.333C>A c.911C>A (p.Ala304Asp) c.-4294966061C>A c.785C>A (p.Ala262Asp) c.713C>A (p.Ala238Asp) | |
7 | g.139962067C= | CA1747341083 | TBXAS1 | c.968C= (p.Ala323=) c.*757C= (n.*757C=) c.1106C= (p.Ala369=) c.971C= (p.Ala324=) c.1109C= (p.Ala370=) c.767C= (p.Ala256=) n.939C= n.451C= n.333C= c.911C= (p.Ala304=) c.-4294966061C= c.785C= (p.Ala262=) c.713C= (p.Ala238=) | |
7 | g.139962067C>G | CA369584883 | TBXAS1 | c.968C>G (p.Ala323Gly) c.*757C>G (n.*757C>G) c.1106C>G (p.Ala369Gly) c.971C>G (p.Ala324Gly) c.1109C>G (p.Ala370Gly) c.767C>G (p.Ala256Gly) n.939C>G n.451C>G n.333C>G c.911C>G (p.Ala304Gly) c.-4294966061C>G c.785C>G (p.Ala262Gly) c.713C>G (p.Ala238Gly) | |
7 | g.139962067C>T | CA369584886 | TBXAS1 | c.968C>T (p.Ala323Val) c.*757C>T (n.*757C>T) c.1106C>T (p.Ala369Val) c.971C>T (p.Ala324Val) c.1109C>T (p.Ala370Val) c.767C>T (p.Ala256Val) n.939C>T n.451C>T n.333C>T c.911C>T (p.Ala304Val) c.-4294966061C>T c.785C>T (p.Ala262Val) c.713C>T (p.Ala238Val) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.139962068C>A | CA458115446 | TBXAS1 | c.969C>A (p.Ala323=) c.*758C>A (n.*758C>A) c.1107C>A (p.Ala369=) c.972C>A (p.Ala324=) c.1110C>A (p.Ala370=) c.768C>A (p.Ala256=) n.940C>A n.452C>A n.334C>A c.912C>A (p.Ala304=) c.-4294966060C>A c.786C>A (p.Ala262=) c.714C>A (p.Ala238=) | |
7 | g.139962068C>G | CA458115447 | TBXAS1 | c.969C>G (p.Ala323=) c.*758C>G (n.*758C>G) c.1107C>G (p.Ala369=) c.972C>G (p.Ala324=) c.1110C>G (p.Ala370=) c.768C>G (p.Ala256=) n.940C>G n.452C>G n.334C>G c.912C>G (p.Ala304=) c.-4294966060C>G c.786C>G (p.Ala262=) c.714C>G (p.Ala238=) | |
7 | g.139962068C>T | CA458115448 | TBXAS1 | c.969C>T (p.Ala323=) c.*758C>T (n.*758C>T) c.1107C>T (p.Ala369=) c.972C>T (p.Ala324=) c.1110C>T (p.Ala370=) c.768C>T (p.Ala256=) n.940C>T n.452C>T n.334C>T c.912C>T (p.Ala304=) c.-4294966060C>T c.786C>T (p.Ala262=) c.714C>T (p.Ala238=) | |
7 | g.139962069A>C | CA458115449 | TBXAS1 | c.970A>C (p.Arg324=) c.*759A>C (n.*759A>C) c.1108A>C (p.Arg370=) c.973A>C (p.Arg325=) c.1111A>C (p.Arg371=) c.769A>C (p.Arg257=) n.941A>C n.453A>C n.335A>C c.913A>C (p.Arg305=) c.-4294966059A>C c.787A>C (p.Arg263=) c.715A>C (p.Arg239=) | |
7 | g.139962069A>G | CA369584890 | TBXAS1 | c.970A>G (p.Arg324Gly) c.*759A>G (n.*759A>G) c.1108A>G (p.Arg370Gly) c.973A>G (p.Arg325Gly) c.1111A>G (p.Arg371Gly) c.769A>G (p.Arg257Gly) n.941A>G n.453A>G n.335A>G c.913A>G (p.Arg305Gly) c.-4294966059A>G c.787A>G (p.Arg263Gly) c.715A>G (p.Arg239Gly) | |
7 | g.139962069A>T | CA369584892 | TBXAS1 | c.970A>T (p.Arg324Trp) c.*759A>T (n.*759A>T) c.1108A>T (p.Arg370Trp) c.973A>T (p.Arg325Trp) c.1111A>T (p.Arg371Trp) c.769A>T (p.Arg257Trp) n.941A>T n.453A>T n.335A>T c.913A>T (p.Arg305Trp) c.-4294966059A>T c.787A>T (p.Arg263Trp) c.715A>T (p.Arg239Trp) | |
7 | g.139962070G>A | CA369584897 | TBXAS1 | c.971G>A (p.Arg324Lys) c.*760G>A (n.*760G>A) c.1109G>A (p.Arg370Lys) c.974G>A (p.Arg325Lys) c.1112G>A (p.Arg371Lys) c.770G>A (p.Arg257Lys) n.942G>A n.454G>A n.336G>A c.914G>A (p.Arg305Lys) c.-4294966058G>A c.788G>A (p.Arg263Lys) c.716G>A (p.Arg239Lys) | dbSNP gnomAD v4 |
7 | g.139962070G>C | CA369584899 | TBXAS1 | c.971G>C (p.Arg324Thr) c.*760G>C (n.*760G>C) c.1109G>C (p.Arg370Thr) c.974G>C (p.Arg325Thr) c.1112G>C (p.Arg371Thr) c.770G>C (p.Arg257Thr) n.942G>C n.454G>C n.336G>C c.914G>C (p.Arg305Thr) c.-4294966058G>C c.788G>C (p.Arg263Thr) c.716G>C (p.Arg239Thr) | |
7 | g.139962070G= | CA1747341084 | TBXAS1 | c.971G= (p.Arg324=) c.*760G= (n.*760G=) c.1109G= (p.Arg370=) c.974G= (p.Arg325=) c.1112G= (p.Arg371=) c.770G= (p.Arg257=) n.942G= n.454G= n.336G= c.914G= (p.Arg305=) c.-4294966058G= c.788G= (p.Arg263=) c.716G= (p.Arg239=) | |
7 | g.139962070G>T | CA369584902 | TBXAS1 | c.971G>T (p.Arg324Met) c.*760G>T (n.*760G>T) c.1109G>T (p.Arg370Met) c.974G>T (p.Arg325Met) c.1112G>T (p.Arg371Met) c.770G>T (p.Arg257Met) n.942G>T n.454G>T n.336G>T c.914G>T (p.Arg305Met) c.-4294966058G>T c.788G>T (p.Arg263Met) c.716G>T (p.Arg239Met) | |
7 | g.139962071G>A | CA458115450 | TBXAS1 | c.972G>A (p.Arg324=) c.*761G>A (n.*761G>A) c.1110G>A (p.Arg370=) c.975G>A (p.Arg325=) c.1113G>A (p.Arg371=) c.771G>A (p.Arg257=) n.943G>A n.455G>A n.337G>A c.915G>A (p.Arg305=) c.-4294966057G>A c.789G>A (p.Arg263=) c.717G>A (p.Arg239=) | gnomAD v4 |
7 | g.139962071G>C | CA369584906 | TBXAS1 | c.972G>C (p.Arg324Ser) c.*761G>C (n.*761G>C) c.1110G>C (p.Arg370Ser) c.975G>C (p.Arg325Ser) c.1113G>C (p.Arg371Ser) c.771G>C (p.Arg257Ser) n.943G>C n.455G>C n.337G>C c.915G>C (p.Arg305Ser) c.-4294966057G>C c.789G>C (p.Arg263Ser) c.717G>C (p.Arg239Ser) | |
7 | g.139962071G>T | CA369584908 | TBXAS1 | c.972G>T (p.Arg324Ser) c.*761G>T (n.*761G>T) c.1110G>T (p.Arg370Ser) c.975G>T (p.Arg325Ser) c.1113G>T (p.Arg371Ser) c.771G>T (p.Arg257Ser) n.943G>T n.455G>T n.337G>T c.915G>T (p.Arg305Ser) c.-4294966057G>T c.789G>T (p.Arg263Ser) c.717G>T (p.Arg239Ser) | |
7 | g.139962071_139962080delinsGCCTTTGACT | CA1747341085 | TBXAS1 | c.972_981delinsGCCTTTGACT (p.Arg324=) c.*761_*770delinsGCCTTTGACT (n.*761_*770delinsGCCTTTGACT) c.1110_1119delinsGCCTTTGACT (p.Arg370=) c.975_984delinsGCCTTTGACT (p.Arg325=) c.1113_1122delinsGCCTTTGACT (p.Arg371=) c.771_780delinsGCCTTTGACT (p.Arg257=) n.943_952delinsGCCTTTGACT n.455_464delinsGCCTTTGACT n.337_346delinsGCCTTTGACT c.915_924delinsGCCTTTGACT (p.Arg305=) c.-4294966057_-4294966048delinsGCCTTTGACT c.789_798delinsGCCTTTGACT (p.Arg263=) c.717_726delinsGCCTTTGACT (p.Arg239=) | |
7 | g.139962072C>A | CA369584911 | TBXAS1 | c.973C>A (p.Pro325Thr) c.*762C>A (n.*762C>A) c.1111C>A (p.Pro371Thr) c.976C>A (p.Pro326Thr) c.1114C>A (p.Pro372Thr) c.772C>A (p.Pro258Thr) n.944C>A n.456C>A n.338C>A c.916C>A (p.Pro306Thr) c.-4294966056C>A c.790C>A (p.Pro264Thr) c.718C>A (p.Pro240Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.139962072C= | CA1747341087 | TBXAS1 | c.973C= (p.Pro325=) c.*762C= (n.*762C=) c.1111C= (p.Pro371=) c.976C= (p.Pro326=) c.1114C= (p.Pro372=) c.772C= (p.Pro258=) n.944C= n.456C= n.338C= c.916C= (p.Pro306=) c.-4294966056C= c.790C= (p.Pro264=) c.718C= (p.Pro240=) | |
7 | g.139962072C>G | CA369584914 | TBXAS1 | c.973C>G (p.Pro325Ala) c.*762C>G (n.*762C>G) c.1111C>G (p.Pro371Ala) c.976C>G (p.Pro326Ala) c.1114C>G (p.Pro372Ala) c.772C>G (p.Pro258Ala) n.944C>G n.456C>G n.338C>G c.916C>G (p.Pro306Ala) c.-4294966056C>G c.790C>G (p.Pro264Ala) c.718C>G (p.Pro240Ala) | |
7 | g.139962072C>T | CA369584916 | TBXAS1 | c.973C>T (p.Pro325Ser) c.*762C>T (n.*762C>T) c.1111C>T (p.Pro371Ser) c.976C>T (p.Pro326Ser) c.1114C>T (p.Pro372Ser) c.772C>T (p.Pro258Ser) n.944C>T n.456C>T n.338C>T c.916C>T (p.Pro306Ser) c.-4294966056C>T c.790C>T (p.Pro264Ser) c.718C>T (p.Pro240Ser) | |
7 | g.139962072_139962080del | CA1747341086 | TBXAS1 | c.973_981del (p.Pro325_Thr327del) c.*762_*770del (n.*762_*770del) c.1111_1119del (p.Pro371_Thr373del) c.976_984del (p.Pro326_Thr328del) c.1114_1122del (p.Pro372_Thr374del) c.772_780del (p.Pro258_Thr260del) n.944_952del n.456_464del n.338_346del c.916_924del (p.Pro306_Thr308del) c.-4294966056_-4294966048del c.790_798del (p.Pro264_Thr266del) c.718_726del (p.Pro240_Thr242del) | dbSNP gnomAD v4 |
7 | g.139962073C>A | CA369584922 | TBXAS1 | c.974C>A (p.Pro325His) c.*763C>A (n.*763C>A) c.1112C>A (p.Pro371His) c.977C>A (p.Pro326His) c.1115C>A (p.Pro372His) c.773C>A (p.Pro258His) n.945C>A n.457C>A n.339C>A c.917C>A (p.Pro306His) c.-4294966055C>A c.791C>A (p.Pro264His) c.719C>A (p.Pro240His) | gnomAD v4 |
7 | g.139962073C>G | CA369584924 | TBXAS1 | c.974C>G (p.Pro325Arg) c.*763C>G (n.*763C>G) c.1112C>G (p.Pro371Arg) c.977C>G (p.Pro326Arg) c.1115C>G (p.Pro372Arg) c.773C>G (p.Pro258Arg) n.945C>G n.457C>G n.339C>G c.917C>G (p.Pro306Arg) c.-4294966055C>G c.791C>G (p.Pro264Arg) c.719C>G (p.Pro240Arg) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.139962073C>T | CA369584920 | TBXAS1 | c.974C>T (p.Pro325Leu) c.*763C>T (n.*763C>T) c.1112C>T (p.Pro371Leu) c.977C>T (p.Pro326Leu) c.1115C>T (p.Pro372Leu) c.773C>T (p.Pro258Leu) n.945C>T n.457C>T n.339C>T c.917C>T (p.Pro306Leu) c.-4294966055C>T c.791C>T (p.Pro264Leu) c.719C>T (p.Pro240Leu) | |
7 | g.139962074T>A | CA458115451 | TBXAS1 | c.975T>A (p.Pro325=) c.*764T>A (n.*764T>A) c.1113T>A (p.Pro371=) c.978T>A (p.Pro326=) c.1116T>A (p.Pro372=) c.774T>A (p.Pro258=) n.946T>A n.458T>A n.340T>A c.918T>A (p.Pro306=) c.-4294966054T>A c.792T>A (p.Pro264=) c.720T>A (p.Pro240=) | |
7 | g.139962074T>C | CA458115452 | TBXAS1 | c.975T>C (p.Pro325=) c.*764T>C (n.*764T>C) c.1113T>C (p.Pro371=) c.978T>C (p.Pro326=) c.1116T>C (p.Pro372=) c.774T>C (p.Pro258=) n.946T>C n.458T>C n.340T>C c.918T>C (p.Pro306=) c.-4294966054T>C c.792T>C (p.Pro264=) c.720T>C (p.Pro240=) | |
7 | g.139962074T>G | CA458115453 | TBXAS1 | c.975T>G (p.Pro325=) c.*764T>G (n.*764T>G) c.1113T>G (p.Pro371=) c.978T>G (p.Pro326=) c.1116T>G (p.Pro372=) c.774T>G (p.Pro258=) n.946T>G n.458T>G n.340T>G c.918T>G (p.Pro306=) c.-4294966054T>G c.792T>G (p.Pro264=) c.720T>G (p.Pro240=) | |
7 | g.139962075T>A | CA369584926 | TBXAS1 | c.976T>A (p.Leu326Met) c.*765T>A (n.*765T>A) c.1114T>A (p.Leu372Met) c.979T>A (p.Leu327Met) c.1117T>A (p.Leu373Met) c.775T>A (p.Leu259Met) n.947T>A n.459T>A n.341T>A c.919T>A (p.Leu307Met) c.-4294966053T>A c.793T>A (p.Leu265Met) c.721T>A (p.Leu241Met) | |
7 | g.139962075T>C | CA458115454 | TBXAS1 | c.976T>C (p.Leu326=) c.*765T>C (n.*765T>C) c.1114T>C (p.Leu372=) c.979T>C (p.Leu327=) c.1117T>C (p.Leu373=) c.775T>C (p.Leu259=) n.947T>C n.459T>C n.341T>C c.919T>C (p.Leu307=) c.-4294966053T>C c.793T>C (p.Leu265=) c.721T>C (p.Leu241=) | gnomAD v4 |
7 | g.139962075T>G | CA369584929 | TBXAS1 | c.976T>G (p.Leu326Val) c.*765T>G (n.*765T>G) c.1114T>G (p.Leu372Val) c.979T>G (p.Leu327Val) c.1117T>G (p.Leu373Val) c.775T>G (p.Leu259Val) n.947T>G n.459T>G n.341T>G c.919T>G (p.Leu307Val) c.-4294966053T>G c.793T>G (p.Leu265Val) c.721T>G (p.Leu241Val) | |
7 | g.139962076T>A | CA369584933 | TBXAS1 | c.977T>A (p.Leu326Ter) c.*766T>A (n.*766T>A) c.1115T>A (p.Leu372Ter) c.980T>A (p.Leu327Ter) c.1118T>A (p.Leu373Ter) c.776T>A (p.Leu259Ter) n.948T>A n.460T>A n.342T>A c.920T>A (p.Leu307Ter) c.-4294966052T>A c.794T>A (p.Leu265Ter) c.722T>A (p.Leu241Ter) | |
7 | g.139962076T>C | CA369584935 | TBXAS1 | c.977T>C (p.Leu326Ser) c.*766T>C (n.*766T>C) c.1115T>C (p.Leu372Ser) c.980T>C (p.Leu327Ser) c.1118T>C (p.Leu373Ser) c.776T>C (p.Leu259Ser) n.948T>C n.460T>C n.342T>C c.920T>C (p.Leu307Ser) c.-4294966052T>C c.794T>C (p.Leu265Ser) c.722T>C (p.Leu241Ser) | |
7 | g.139962076T>G | CA369584938 | TBXAS1 | c.977T>G (p.Leu326Trp) c.*766T>G (n.*766T>G) c.1115T>G (p.Leu372Trp) c.980T>G (p.Leu327Trp) c.1118T>G (p.Leu373Trp) c.776T>G (p.Leu259Trp) n.948T>G n.460T>G n.342T>G c.920T>G (p.Leu307Trp) c.-4294966052T>G c.794T>G (p.Leu265Trp) c.722T>G (p.Leu241Trp) | |
7 | g.139962078_139962081del | CA2685190568 | TBXAS1 | c.979_982del (p.Thr327TrpfsTer?) c.*768_*771del (n.*768_*771del) c.1117_1120del (p.Thr373TrpfsTer?) c.982_985del (p.Thr328TrpfsTer?) c.1120_1123del (p.Thr374TrpfsTer?) c.778_781del (p.Thr260TrpfsTer?) n.950_953del n.462_465del n.344_347del c.922_925del (p.Thr308TrpfsTer?) c.-4294966050_-4294966047del c.796_799del (p.Thr266TrpfsTer?) c.724_727del (p.Thr242TrpfsTer?) | gnomAD v4 |
7 | g.139962076_139962088delinsTGACTGTGGATGA | CA1747341088 | TBXAS1 | c.977_989delinsTGACTGTGGATGA (p.Leu326=) c.*766_*778delinsTGACTGTGGATGA (n.*766_*778delinsTGACTGTGGATGA) c.1115_1127delinsTGACTGTGGATGA (p.Leu372=) c.980_992delinsTGACTGTGGATGA (p.Leu327=) c.1118_1130delinsTGACTGTGGATGA (p.Leu373=) c.776_788delinsTGACTGTGGATGA (p.Leu259=) n.948_960delinsTGACTGTGGATGA n.460_472delinsTGACTGTGGATGA n.342_354delinsTGACTGTGGATGA c.920_932delinsTGACTGTGGATGA (p.Leu307=) c.-4294966052_-4294966040delinsTGACTGTGGATGA c.794_806delinsTGACTGTGGATGA (p.Leu265=) c.722_734delinsTGACTGTGGATGA (p.Leu241=) | |
7 | g.139962077G>A | CA4511865 | TBXAS1 | c.978G>A (p.Leu326=) c.*767G>A (n.*767G>A) c.1116G>A (p.Leu372=) c.981G>A (p.Leu327=) c.1119G>A (p.Leu373=) c.777G>A (p.Leu259=) n.949G>A n.461G>A n.343G>A c.921G>A (p.Leu307=) c.-4294966051G>A c.795G>A (p.Leu265=) c.723G>A (p.Leu241=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.139962077G>C | CA369584942 | TBXAS1 | c.978G>C (p.Leu326Phe) c.*767G>C (n.*767G>C) c.1116G>C (p.Leu372Phe) c.981G>C (p.Leu327Phe) c.1119G>C (p.Leu373Phe) c.777G>C (p.Leu259Phe) n.949G>C n.461G>C n.343G>C c.921G>C (p.Leu307Phe) c.-4294966051G>C c.795G>C (p.Leu265Phe) c.723G>C (p.Leu241Phe) | |
7 | g.139962077G= | CA1747341089 | TBXAS1 | c.978G= (p.Leu326=) c.*767G= (n.*767G=) c.1116G= (p.Leu372=) c.981G= (p.Leu327=) c.1119G= (p.Leu373=) c.777G= (p.Leu259=) n.949G= n.461G= n.343G= c.921G= (p.Leu307=) c.-4294966051G= c.795G= (p.Leu265=) c.723G= (p.Leu241=) | |
7 | g.139962077G>T | CA369584943 | TBXAS1 | c.978G>T (p.Leu326Phe) c.*767G>T (n.*767G>T) c.1116G>T (p.Leu372Phe) c.981G>T (p.Leu327Phe) c.1119G>T (p.Leu373Phe) c.777G>T (p.Leu259Phe) n.949G>T n.461G>T n.343G>T c.921G>T (p.Leu307Phe) c.-4294966051G>T c.795G>T (p.Leu265Phe) c.723G>T (p.Leu241Phe) | |
7 | g.139962079_139962090del | CA578624652 | TBXAS1 | c.980_991del (p.Thr327_Glu330del) c.*769_*780del (n.*769_*780del) c.1118_1129del (p.Thr373_Glu376del) c.983_994del (p.Thr328_Glu331del) c.1121_1132del (p.Thr374_Glu377del) c.779_790del (p.Thr260_Glu263del) n.951_962del n.463_474del n.345_356del c.923_934del (p.Thr308_Glu311del) c.-4294966049_-4294966038del c.797_808del (p.Thr266_Glu269del) c.725_736del (p.Thr242_Glu245del) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.139962078A>C | CA369584946 | TBXAS1 | c.979A>C (p.Thr327Pro) c.*768A>C (n.*768A>C) c.1117A>C (p.Thr373Pro) c.982A>C (p.Thr328Pro) c.1120A>C (p.Thr374Pro) c.778A>C (p.Thr260Pro) n.950A>C n.462A>C n.344A>C c.922A>C (p.Thr308Pro) c.-4294966050A>C c.796A>C (p.Thr266Pro) c.724A>C (p.Thr242Pro) | |
7 | g.139962078A>G | CA369584949 | TBXAS1 | c.979A>G (p.Thr327Ala) c.*768A>G (n.*768A>G) c.1117A>G (p.Thr373Ala) c.982A>G (p.Thr328Ala) c.1120A>G (p.Thr374Ala) c.778A>G (p.Thr260Ala) n.950A>G n.462A>G n.344A>G c.922A>G (p.Thr308Ala) c.-4294966050A>G c.796A>G (p.Thr266Ala) c.724A>G (p.Thr242Ala) | |
7 | g.139962078A>T | CA369584951 | TBXAS1 | c.979A>T (p.Thr327Ser) c.*768A>T (n.*768A>T) c.1117A>T (p.Thr373Ser) c.982A>T (p.Thr328Ser) c.1120A>T (p.Thr374Ser) c.778A>T (p.Thr260Ser) n.950A>T n.462A>T n.344A>T c.922A>T (p.Thr308Ser) c.-4294966050A>T c.796A>T (p.Thr266Ser) c.724A>T (p.Thr242Ser) | |
7 | g.139962079C>A | CA369584955 | TBXAS1 | c.980C>A (p.Thr327Asn) c.*769C>A (n.*769C>A) c.1118C>A (p.Thr373Asn) c.983C>A (p.Thr328Asn) c.1121C>A (p.Thr374Asn) c.779C>A (p.Thr260Asn) n.951C>A n.463C>A n.345C>A c.923C>A (p.Thr308Asn) c.-4294966049C>A c.797C>A (p.Thr266Asn) c.725C>A (p.Thr242Asn) | |
7 | g.139962079C>G | CA369584957 | TBXAS1 | c.980C>G (p.Thr327Ser) c.*769C>G (n.*769C>G) c.1118C>G (p.Thr373Ser) c.983C>G (p.Thr328Ser) c.1121C>G (p.Thr374Ser) c.779C>G (p.Thr260Ser) n.951C>G n.463C>G n.345C>G c.923C>G (p.Thr308Ser) c.-4294966049C>G c.797C>G (p.Thr266Ser) c.725C>G (p.Thr242Ser) | |
7 | g.139962079C>T | CA369584959 | TBXAS1 | c.980C>T (p.Thr327Ile) c.*769C>T (n.*769C>T) c.1118C>T (p.Thr373Ile) c.983C>T (p.Thr328Ile) c.1121C>T (p.Thr374Ile) c.779C>T (p.Thr260Ile) n.951C>T n.463C>T n.345C>T c.923C>T (p.Thr308Ile) c.-4294966049C>T c.797C>T (p.Thr266Ile) c.725C>T (p.Thr242Ile) | gnomAD v4 |
7 | g.139962080T>A | CA458115457 | TBXAS1 | c.981T>A (p.Thr327=) c.*770T>A (n.*770T>A) c.1119T>A (p.Thr373=) c.984T>A (p.Thr328=) c.1122T>A (p.Thr374=) c.780T>A (p.Thr260=) n.952T>A n.464T>A n.346T>A c.924T>A (p.Thr308=) c.-4294966048T>A c.798T>A (p.Thr266=) c.726T>A (p.Thr242=) | gnomAD v4 |
7 | g.139962080T>C | CA458115456 | TBXAS1 | c.981T>C (p.Thr327=) c.*770T>C (n.*770T>C) c.1119T>C (p.Thr373=) c.984T>C (p.Thr328=) c.1122T>C (p.Thr374=) c.780T>C (p.Thr260=) n.952T>C n.464T>C n.346T>C c.924T>C (p.Thr308=) c.-4294966048T>C c.798T>C (p.Thr266=) c.726T>C (p.Thr242=) | |
7 | g.139962080T>G | CA458115455 | TBXAS1 | c.981T>G (p.Thr327=) c.*770T>G (n.*770T>G) c.1119T>G (p.Thr373=) c.984T>G (p.Thr328=) c.1122T>G (p.Thr374=) c.780T>G (p.Thr260=) n.952T>G n.464T>G n.346T>G c.924T>G (p.Thr308=) c.-4294966048T>G c.798T>G (p.Thr266=) c.726T>G (p.Thr242=) | |
7 | g.139962081G>A | CA369584968 | TBXAS1 | c.982G>A (p.Val328Met) c.*771G>A (n.*771G>A) c.1120G>A (p.Val374Met) c.985G>A (p.Val329Met) c.1123G>A (p.Val375Met) c.781G>A (p.Val261Met) n.953G>A n.465G>A n.347G>A c.925G>A (p.Val309Met) c.-4294966047G>A c.799G>A (p.Val267Met) c.727G>A (p.Val243Met) | gnomAD v4 |
7 | g.139962081G>C | CA369584965 | TBXAS1 | c.982G>C (p.Val328Leu) c.*771G>C (n.*771G>C) c.1120G>C (p.Val374Leu) c.985G>C (p.Val329Leu) c.1123G>C (p.Val375Leu) c.781G>C (p.Val261Leu) n.953G>C n.465G>C n.347G>C c.925G>C (p.Val309Leu) c.-4294966047G>C c.799G>C (p.Val267Leu) c.727G>C (p.Val243Leu) | |
7 | g.139962081G>T | CA369584963 | TBXAS1 | c.982G>T (p.Val328Leu) c.*771G>T (n.*771G>T) c.1120G>T (p.Val374Leu) c.985G>T (p.Val329Leu) c.1123G>T (p.Val375Leu) c.781G>T (p.Val261Leu) n.953G>T n.465G>T n.347G>T c.925G>T (p.Val309Leu) c.-4294966047G>T c.799G>T (p.Val267Leu) c.727G>T (p.Val243Leu) | |
7 | g.139962082T>A | CA369584972 | TBXAS1 | c.983T>A (p.Val328Glu) c.*772T>A (n.*772T>A) c.1121T>A (p.Val374Glu) c.986T>A (p.Val329Glu) c.1124T>A (p.Val375Glu) c.782T>A (p.Val261Glu) n.954T>A n.466T>A n.348T>A c.926T>A (p.Val309Glu) c.-4294966046T>A c.800T>A (p.Val267Glu) c.728T>A (p.Val243Glu) | |
7 | g.139962082T>C | CA369584974 | TBXAS1 | c.983T>C (p.Val328Ala) c.*772T>C (n.*772T>C) c.1121T>C (p.Val374Ala) c.986T>C (p.Val329Ala) c.1124T>C (p.Val375Ala) c.782T>C (p.Val261Ala) n.954T>C n.466T>C n.348T>C c.926T>C (p.Val309Ala) c.-4294966046T>C c.800T>C (p.Val267Ala) c.728T>C (p.Val243Ala) | |
7 | g.139962082T>G | CA369584976 | TBXAS1 | c.983T>G (p.Val328Gly) c.*772T>G (n.*772T>G) c.1121T>G (p.Val374Gly) c.986T>G (p.Val329Gly) c.1124T>G (p.Val375Gly) c.782T>G (p.Val261Gly) n.954T>G n.466T>G n.348T>G c.926T>G (p.Val309Gly) c.-4294966046T>G c.800T>G (p.Val267Gly) c.728T>G (p.Val243Gly) | |
7 | g.139962083G>A | CA458115458 | TBXAS1 | c.984G>A (p.Val328=) c.*773G>A (n.*773G>A) c.1122G>A (p.Val374=) c.987G>A (p.Val329=) c.1125G>A (p.Val375=) c.783G>A (p.Val261=) n.955G>A n.467G>A n.349G>A c.927G>A (p.Val309=) c.-4294966045G>A c.801G>A (p.Val267=) c.729G>A (p.Val243=) | gnomAD v4 |
7 | g.139962083G>C | CA458115459 | TBXAS1 | c.984G>C (p.Val328=) c.*773G>C (n.*773G>C) c.1122G>C (p.Val374=) c.987G>C (p.Val329=) c.1125G>C (p.Val375=) c.783G>C (p.Val261=) n.955G>C n.467G>C n.349G>C c.927G>C (p.Val309=) c.-4294966045G>C c.801G>C (p.Val267=) c.729G>C (p.Val243=) | |
7 | g.139962083G= | CA1747341090 | TBXAS1 | c.984G= (p.Val328=) c.*773G= (n.*773G=) c.1122G= (p.Val374=) c.987G= (p.Val329=) c.1125G= (p.Val375=) c.783G= (p.Val261=) n.955G= n.467G= n.349G= c.927G= (p.Val309=) c.-4294966045G= c.801G= (p.Val267=) c.729G= (p.Val243=) | |
7 | g.139962083G>T | CA458115460 | TBXAS1 | c.984G>T (p.Val328=) c.*773G>T (n.*773G>T) c.1122G>T (p.Val374=) c.987G>T (p.Val329=) c.1125G>T (p.Val375=) c.783G>T (p.Val261=) n.955G>T n.467G>T n.349G>T c.927G>T (p.Val309=) c.-4294966045G>T c.801G>T (p.Val267=) c.729G>T (p.Val243=) | |
7 | g.139962083_139962084insA | CA1747341091 | TBXAS1 | c.984_985insA (p.Asp329ArgfsTer2) c.*773_*774insA (n.*773_*774insA) c.1122_1123insA (p.Asp375ArgfsTer2) c.987_988insA (p.Asp330ArgfsTer2) c.1125_1126insA (p.Asp376ArgfsTer2) c.783_784insA (p.Asp262ArgfsTer2) n.955_956insA n.467_468insA n.349_350insA c.927_928insA (p.Asp310ArgfsTer2) c.-4294966045_-4294966044insA c.801_802insA (p.Asp268ArgfsTer2) c.729_730insA (p.Asp244ArgfsTer2) | dbSNP gnomAD v4 |
7 | g.139962084G>A | CA369584978 | TBXAS1 | c.985G>A (p.Asp329Asn) c.*774G>A (n.*774G>A) c.1123G>A (p.Asp375Asn) c.988G>A (p.Asp330Asn) c.1126G>A (p.Asp376Asn) c.784G>A (p.Asp262Asn) n.956G>A n.468G>A n.350G>A c.928G>A (p.Asp310Asn) c.-4294966044G>A c.802G>A (p.Asp268Asn) c.730G>A (p.Asp244Asn) | |
7 | g.139962084G>C | CA369584981 | TBXAS1 | c.985G>C (p.Asp329His) c.*774G>C (n.*774G>C) c.1123G>C (p.Asp375His) c.988G>C (p.Asp330His) c.1126G>C (p.Asp376His) c.784G>C (p.Asp262His) n.956G>C n.468G>C n.350G>C c.928G>C (p.Asp310His) c.-4294966044G>C c.802G>C (p.Asp268His) c.730G>C (p.Asp244His) | |
7 | g.139962084G>T | CA369584984 | TBXAS1 | c.985G>T (p.Asp329Tyr) c.*774G>T (n.*774G>T) c.1123G>T (p.Asp375Tyr) c.988G>T (p.Asp330Tyr) c.1126G>T (p.Asp376Tyr) c.784G>T (p.Asp262Tyr) n.956G>T n.468G>T n.350G>T c.928G>T (p.Asp310Tyr) c.-4294966044G>T c.802G>T (p.Asp268Tyr) c.730G>T (p.Asp244Tyr) | |
7 | g.139962085A>C | CA369584988 | TBXAS1 | c.986A>C (p.Asp329Ala) c.*775A>C (n.*775A>C) c.1124A>C (p.Asp375Ala) c.989A>C (p.Asp330Ala) c.1127A>C (p.Asp376Ala) c.785A>C (p.Asp262Ala) n.957A>C n.469A>C n.351A>C c.929A>C (p.Asp310Ala) c.-4294966043A>C c.803A>C (p.Asp268Ala) c.731A>C (p.Asp244Ala) | |
7 | g.139962085A>G | CA369584990 | TBXAS1 | c.986A>G (p.Asp329Gly) c.*775A>G (n.*775A>G) c.1124A>G (p.Asp375Gly) c.989A>G (p.Asp330Gly) c.1127A>G (p.Asp376Gly) c.785A>G (p.Asp262Gly) n.957A>G n.469A>G n.351A>G c.929A>G (p.Asp310Gly) c.-4294966043A>G c.803A>G (p.Asp268Gly) c.731A>G (p.Asp244Gly) | |
7 | g.139962085A>T | CA369584993 | TBXAS1 | c.986A>T (p.Asp329Val) c.*775A>T (n.*775A>T) c.1124A>T (p.Asp375Val) c.989A>T (p.Asp330Val) c.1127A>T (p.Asp376Val) c.785A>T (p.Asp262Val) n.957A>T n.469A>T n.351A>T c.929A>T (p.Asp310Val) c.-4294966043A>T c.803A>T (p.Asp268Val) c.731A>T (p.Asp244Val) | gnomAD v4 |
7 | g.139962086T>A | CA369584996 | TBXAS1 | c.987T>A (p.Asp329Glu) c.*776T>A (n.*776T>A) c.1125T>A (p.Asp375Glu) c.990T>A (p.Asp330Glu) c.1128T>A (p.Asp376Glu) c.786T>A (p.Asp262Glu) n.958T>A n.470T>A n.352T>A c.930T>A (p.Asp310Glu) c.-4294966042T>A c.804T>A (p.Asp268Glu) c.732T>A (p.Asp244Glu) | |
7 | g.139962086T>C | CA458115461 | TBXAS1 | c.987T>C (p.Asp329=) c.*776T>C (n.*776T>C) c.1125T>C (p.Asp375=) c.990T>C (p.Asp330=) c.1128T>C (p.Asp376=) c.786T>C (p.Asp262=) n.958T>C n.470T>C n.352T>C c.930T>C (p.Asp310=) c.-4294966042T>C c.804T>C (p.Asp268=) c.732T>C (p.Asp244=) | |
7 | g.139962086T>G | CA369584998 | TBXAS1 | c.987T>G (p.Asp329Glu) c.*776T>G (n.*776T>G) c.1125T>G (p.Asp375Glu) c.990T>G (p.Asp330Glu) c.1128T>G (p.Asp376Glu) c.786T>G (p.Asp262Glu) n.958T>G n.470T>G n.352T>G c.930T>G (p.Asp310Glu) c.-4294966042T>G c.804T>G (p.Asp268Glu) c.732T>G (p.Asp244Glu) | gnomAD v4 |
7 | g.139962087G>A | CA369585001 | TBXAS1 | c.988G>A (p.Glu330Lys) c.*777G>A (n.*777G>A) c.1126G>A (p.Glu376Lys) c.991G>A (p.Glu331Lys) c.1129G>A (p.Glu377Lys) c.787G>A (p.Glu263Lys) n.959G>A n.471G>A n.353G>A c.931G>A (p.Glu311Lys) c.-4294966041G>A c.805G>A (p.Glu269Lys) c.733G>A (p.Glu245Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
7 | g.139962087G>C | CA369585003 | TBXAS1 | c.988G>C (p.Glu330Gln) c.*777G>C (n.*777G>C) c.1126G>C (p.Glu376Gln) c.991G>C (p.Glu331Gln) c.1129G>C (p.Glu377Gln) c.787G>C (p.Glu263Gln) n.959G>C n.471G>C n.353G>C c.931G>C (p.Glu311Gln) c.-4294966041G>C c.805G>C (p.Glu269Gln) c.733G>C (p.Glu245Gln) | |
7 | g.139962087G= | CA1747341092 | TBXAS1 | c.988G= (p.Glu330=) c.*777G= (n.*777G=) c.1126G= (p.Glu376=) c.991G= (p.Glu331=) c.1129G= (p.Glu377=) c.787G= (p.Glu263=) n.959G= n.471G= n.353G= c.931G= (p.Glu311=) c.-4294966041G= c.805G= (p.Glu269=) c.733G= (p.Glu245=) | |
7 | g.139962087G>T | CA369585006 | TBXAS1 | c.988G>T (p.Glu330Ter) c.*777G>T (n.*777G>T) c.1126G>T (p.Glu376Ter) c.991G>T (p.Glu331Ter) c.1129G>T (p.Glu377Ter) c.787G>T (p.Glu263Ter) n.959G>T n.471G>T n.353G>T c.931G>T (p.Glu311Ter) c.-4294966041G>T c.805G>T (p.Glu269Ter) c.733G>T (p.Glu245Ter) | |
7 | g.139962088A= | CA1747341093 | TBXAS1 | c.989A= (p.Glu330=) c.*778A= (n.*778A=) c.1127A= (p.Glu376=) c.992A= (p.Glu331=) c.1130A= (p.Glu377=) c.788A= (p.Glu263=) n.960A= n.472A= n.354A= c.932A= (p.Glu311=) c.-4294966040A= c.806A= (p.Glu269=) c.734A= (p.Glu245=) | |
7 | g.139962088A>C | CA369585011 | TBXAS1 | c.989A>C (p.Glu330Ala) c.*778A>C (n.*778A>C) c.1127A>C (p.Glu376Ala) c.992A>C (p.Glu331Ala) c.1130A>C (p.Glu377Ala) c.788A>C (p.Glu263Ala) n.960A>C n.472A>C n.354A>C c.932A>C (p.Glu311Ala) c.-4294966040A>C c.806A>C (p.Glu269Ala) c.734A>C (p.Glu245Ala) | |
7 | g.139962088A>G | CA369585013 | TBXAS1 | c.989A>G (p.Glu330Gly) c.*778A>G (n.*778A>G) c.1127A>G (p.Glu376Gly) c.992A>G (p.Glu331Gly) c.1130A>G (p.Glu377Gly) c.788A>G (p.Glu263Gly) n.960A>G n.472A>G n.354A>G c.932A>G (p.Glu311Gly) c.-4294966040A>G c.806A>G (p.Glu269Gly) c.734A>G (p.Glu245Gly) | |
7 | g.139962088A>T | CA369585008 | TBXAS1 | c.989A>T (p.Glu330Val) c.*778A>T (n.*778A>T) c.1127A>T (p.Glu376Val) c.992A>T (p.Glu331Val) c.1130A>T (p.Glu377Val) c.788A>T (p.Glu263Val) n.960A>T n.472A>T n.354A>T c.932A>T (p.Glu311Val) c.-4294966040A>T c.806A>T (p.Glu269Val) c.734A>T (p.Glu245Val) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.139962089G>A | CA458115462 | TBXAS1 | c.990G>A (p.Glu330=) c.*779G>A (n.*779G>A) c.1128G>A (p.Glu376=) c.993G>A (p.Glu331=) c.1131G>A (p.Glu377=) c.789G>A (p.Glu263=) n.961G>A n.473G>A n.355G>A c.933G>A (p.Glu311=) c.-4294966039G>A c.807G>A (p.Glu269=) c.735G>A (p.Glu245=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.139962089G>C | CA369585018 | TBXAS1 | c.990G>C (p.Glu330Asp) c.*779G>C (n.*779G>C) c.1128G>C (p.Glu376Asp) c.993G>C (p.Glu331Asp) c.1131G>C (p.Glu377Asp) c.789G>C (p.Glu263Asp) n.961G>C n.473G>C n.355G>C c.933G>C (p.Glu311Asp) c.-4294966039G>C c.807G>C (p.Glu269Asp) c.735G>C (p.Glu245Asp) | |
7 | g.139962089G= | CA1747341094 | TBXAS1 | c.990G= (p.Glu330=) c.*779G= (n.*779G=) c.1128G= (p.Glu376=) c.993G= (p.Glu331=) c.1131G= (p.Glu377=) c.789G= (p.Glu263=) n.961G= n.473G= n.355G= c.933G= (p.Glu311=) c.-4294966039G= c.807G= (p.Glu269=) c.735G= (p.Glu245=) | |
7 | g.139962089G>T | CA369585016 | TBXAS1 | c.990G>T (p.Glu330Asp) c.*779G>T (n.*779G>T) c.1128G>T (p.Glu376Asp) c.993G>T (p.Glu331Asp) c.1131G>T (p.Glu377Asp) c.789G>T (p.Glu263Asp) n.961G>T n.473G>T n.355G>T c.933G>T (p.Glu311Asp) c.-4294966039G>T c.807G>T (p.Glu269Asp) c.735G>T (p.Glu245Asp) | |
7 | g.139962090A= | CA1747341095 | TBXAS1 | c.991A= (p.Ile331=) c.*780A= (n.*780A=) c.1129A= (p.Ile377=) c.994A= (p.Ile332=) c.1132A= (p.Ile378=) c.790A= (p.Ile264=) n.962A= n.474A= n.356A= c.934A= (p.Ile312=) c.-4294966038A= c.808A= (p.Ile270=) c.736A= (p.Ile246=) | |
7 | g.139962090A>C | CA369585024 | TBXAS1 | c.991A>C (p.Ile331Leu) c.*780A>C (n.*780A>C) c.1129A>C (p.Ile377Leu) c.994A>C (p.Ile332Leu) c.1132A>C (p.Ile378Leu) c.790A>C (p.Ile264Leu) n.962A>C n.474A>C n.356A>C c.934A>C (p.Ile312Leu) c.-4294966038A>C c.808A>C (p.Ile270Leu) c.736A>C (p.Ile246Leu) | |
7 | g.139962090A>G | CA369585021 | TBXAS1 | c.991A>G (p.Ile331Val) c.*780A>G (n.*780A>G) c.1129A>G (p.Ile377Val) c.994A>G (p.Ile332Val) c.1132A>G (p.Ile378Val) c.790A>G (p.Ile264Val) n.962A>G n.474A>G n.356A>G c.934A>G (p.Ile312Val) c.-4294966038A>G c.808A>G (p.Ile270Val) c.736A>G (p.Ile246Val) | |
7 | g.139962090A>T | CA4511866 | TBXAS1 | c.991A>T (p.Ile331Phe) c.*780A>T (n.*780A>T) c.1129A>T (p.Ile377Phe) c.994A>T (p.Ile332Phe) c.1132A>T (p.Ile378Phe) c.790A>T (p.Ile264Phe) n.962A>T n.474A>T n.356A>T c.934A>T (p.Ile312Phe) c.-4294966038A>T c.808A>T (p.Ile270Phe) c.736A>T (p.Ile246Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.139962091T>A | CA369585030 | TBXAS1 | c.992T>A (p.Ile331Asn) c.*781T>A (n.*781T>A) c.1130T>A (p.Ile377Asn) c.995T>A (p.Ile332Asn) c.1133T>A (p.Ile378Asn) c.791T>A (p.Ile264Asn) n.963T>A n.475T>A n.357T>A c.935T>A (p.Ile312Asn) c.-4294966037T>A c.809T>A (p.Ile270Asn) c.737T>A (p.Ile246Asn) | |
7 | g.139962091T>C | CA4511867 | TBXAS1 | c.992T>C (p.Ile331Thr) c.*781T>C (n.*781T>C) c.1130T>C (p.Ile377Thr) c.995T>C (p.Ile332Thr) c.1133T>C (p.Ile378Thr) c.791T>C (p.Ile264Thr) n.963T>C n.475T>C n.357T>C c.935T>C (p.Ile312Thr) c.-4294966037T>C c.809T>C (p.Ile270Thr) c.737T>C (p.Ile246Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.139962091T>G | CA369585033 | TBXAS1 | c.992T>G (p.Ile331Ser) c.*781T>G (n.*781T>G) c.1130T>G (p.Ile377Ser) c.995T>G (p.Ile332Ser) c.1133T>G (p.Ile378Ser) c.791T>G (p.Ile264Ser) n.963T>G n.475T>G n.357T>G c.935T>G (p.Ile312Ser) c.-4294966037T>G c.809T>G (p.Ile270Ser) c.737T>G (p.Ile246Ser) | |
7 | g.139962091T= | CA1747341096 | TBXAS1 | c.992T= (p.Ile331=) c.*781T= (n.*781T=) c.1130T= (p.Ile377=) c.995T= (p.Ile332=) c.1133T= (p.Ile378=) c.791T= (p.Ile264=) n.963T= n.475T= n.357T= c.935T= (p.Ile312=) c.-4294966037T= c.809T= (p.Ile270=) c.737T= (p.Ile246=) |