| 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.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) |