Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.139961977_139961995delinsGCGTGCAAGACTTTGACATCA1747341033TBXAS1c.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=)
7g.139961981_139961998delCA1747341035TBXAS1c.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
7g.139961990_139961996delinsTGACATCCA1747341039TBXAS1c.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=)
7g.139961992_139961997delCA16042663TBXAS1c.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
7g.139961992A>CCA369584321TBXAS1c.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)
7g.139961992A>GCA369584324TBXAS1c.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)
7g.139961992A>TCA369584327TBXAS1c.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)
7g.139961993C>ACA369584333TBXAS1c.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)
7g.139961993C=CA1747341040TBXAS1c.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=)
7g.139961993C>GCA369584336TBXAS1c.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)
7g.139961993C>TCA4511843TBXAS1c.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
7g.139961994A=CA1747341041TBXAS1c.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=)
7g.139961994A>CCA369584344TBXAS1c.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)
7g.139961994A>GCA369584346TBXAS1c.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
7g.139961994A>TCA369584351TBXAS1c.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)
7g.139961995T>ACA369584363TBXAS1c.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)
7g.139961995T>CCA369584356TBXAS1c.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)
7g.139961995T>GCA369584360TBXAS1c.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)
7g.139961996C>ACA458115383TBXAS1c.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=)
7g.139961996C=CA1747341042TBXAS1c.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=)
7g.139961996C>GCA369584366TBXAS1c.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)
7g.139961996C>TCA458115382TBXAS1c.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
7g.139961997G>ACA4511844TBXAS1c.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
7g.139961997G>CCA369584374TBXAS1c.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)
7g.139961997G=CA1747341043TBXAS1c.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=)
7g.139961997G>TCA369584377TBXAS1c.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)
7g.139961998T>ACA369584381TBXAS1c.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
7g.139961998T>CCA369584384TBXAS1c.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)
7g.139961998T>GCA369584387TBXAS1c.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)
7g.139961999C>ACA458115387TBXAS1c.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=)
7g.139961999C=CA1747341045TBXAS1c.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=)
7g.139961999C>GCA458115388TBXAS1c.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=)
7g.139961999C>TCA458115389TBXAS1c.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
7g.139961999_139962001delinsCAGCA1747341044TBXAS1c.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=)
7g.139962000A>CCA458115390TBXAS1c.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
7g.139962000A>GCA369584391TBXAS1c.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)
7g.139962000A>TCA369584401TBXAS1c.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)
7g.139962003_139962004delCA834161086TBXAS1c.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
7g.139962001G>ACA369584405TBXAS1c.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
7g.139962001G>CCA369584409TBXAS1c.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)
7g.139962001G=CA1747341046TBXAS1c.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=)
7g.139962001G>TCA369584412TBXAS1c.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
7g.139962002A>CCA369584416TBXAS1c.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)
7g.139962002A>GCA458115392TBXAS1c.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=)
7g.139962002A>TCA369584417TBXAS1c.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)
7g.139962003G>ACA4511845TBXAS1c.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
7g.139962003G>CCA369584423TBXAS1c.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)
7g.139962003G=CA1747341047TBXAS1c.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=)
7g.139962003G>TCA369584425TBXAS1c.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)
7g.139962004A>CCA369584433TBXAS1c.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)
7g.139962004A>GCA369584438TBXAS1c.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)
7g.139962004A>TCA369584441TBXAS1c.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
7g.139962005C>ACA369584445TBXAS1c.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
7g.139962005C=CA1747341048TBXAS1c.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=)
7g.139962005C>GCA369584446TBXAS1c.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)
7g.139962005C>TCA4511846TBXAS1c.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
7g.139962006G>ACA4511847TBXAS1c.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
7g.139962006G>CCA369584453TBXAS1c.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)
7g.139962006G=CA1747341049TBXAS1c.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=)
7g.139962006G>TCA369584455TBXAS1c.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)
7g.139962007T>ACA369584461TBXAS1c.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)
7g.139962007T>CCA369584464TBXAS1c.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)
7g.139962007T>GCA369584467TBXAS1c.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)
7g.139962008T>ACA458115398TBXAS1c.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=)
7g.139962008T>CCA458115399TBXAS1c.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
7g.139962008T>GCA458115400TBXAS1c.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=)
7g.139962008T=CA1747341050TBXAS1c.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=)
7g.139962009T>ACA369584471TBXAS1c.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)
7g.139962009T>CCA369584478TBXAS1c.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)
7g.139962009T>GCA369584474TBXAS1c.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)
7g.139962010T>ACA369584482TBXAS1c.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)
7g.139962010T>CCA369584489TBXAS1c.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)
7g.139962010T>GCA369584486TBXAS1c.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)
7g.139962011C>ACA369584493TBXAS1c.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)
7g.139962011C=CA1747341051TBXAS1c.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=)
7g.139962011C>GCA369584499TBXAS1c.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)
7g.139962011C>TCA458115404TBXAS1c.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
7g.139962012T>ACA369584503TBXAS1c.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)
7g.139962012T>CCA369584507TBXAS1c.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)
7g.139962012T>GCA369584511TBXAS1c.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)
7g.139962013C>ACA369584517TBXAS1c.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)
7g.139962013C=CA1747341052TBXAS1c.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=)
7g.139962013C>GCA369584518TBXAS1c.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)
7g.139962013C>TCA369584523TBXAS1c.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
7g.139962014C>ACA458115408TBXAS1c.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=)
7g.139962014C>GCA458115409TBXAS1c.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=)
7g.139962014C>TCA458115410TBXAS1c.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=)
7g.139962015T>ACA369584528TBXAS1c.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
7g.139962015T>CCA369584532TBXAS1c.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
7g.139962015T>GCA369584534TBXAS1c.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)
7g.139962015T=CA1747341053TBXAS1c.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=)
7g.139962016C>ACA369584549TBXAS1c.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)
7g.139962016C=CA1747341054TBXAS1c.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=)
7g.139962016C>GCA369584538TBXAS1c.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)
7g.139962016C>TCA369584546TBXAS1c.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
7g.139962016_139962042delCA2685190567TBXAS1c.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
7g.139962017T>ACA458115413TBXAS1c.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=)
7g.139962017T>CCA458115412TBXAS1c.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=)
7g.139962017T>GCA167953442TBXAS1c.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
7g.139962017T=CA1747341055TBXAS1c.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=)
7g.139962018A=CA1747341056TBXAS1c.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=)
7g.139962018A>CCA369584564TBXAS1c.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)
7g.139962018A>GCA4511848TBXAS1c.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
7g.139962018A>TCA369584572TBXAS1c.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)
7g.139962019C>ACA369584575TBXAS1c.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)
7g.139962019C=CA1747341057TBXAS1c.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=)
7g.139962019C>GCA369584581TBXAS1c.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)
7g.139962019C>TCA369584584TBXAS1c.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
7g.139962020T>ACA458115415TBXAS1c.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=)
7g.139962020T>CCA458115416TBXAS1c.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
7g.139962020T>GCA458115417TBXAS1c.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=)
7g.139962021G>ACA369584589TBXAS1c.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)
7g.139962021G>CCA369584594TBXAS1c.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)
7g.139962021G>TCA369584596TBXAS1c.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)
7g.139962022G>ACA369584603TBXAS1c.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)
7g.139962022G>CCA369584606TBXAS1c.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)
7g.139962022G>TCA369584600TBXAS1c.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)
7g.139962023G>ACA458115418TBXAS1c.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
7g.139962023G>CCA458115419TBXAS1c.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=)
7g.139962023G=CA1747341058TBXAS1c.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=)
7g.139962023G>TCA458115420TBXAS1c.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=)
7g.139962024T>ACA369584612TBXAS1c.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
7g.139962024T>CCA369584615TBXAS1c.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
7g.139962024T>GCA369584618TBXAS1c.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)
7g.139962025G>ACA167953443TBXAS1c.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
7g.139962025G>CCA369584626TBXAS1c.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)
7g.139962025G=CA1747341059TBXAS1c.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=)
7g.139962025G>TCA369584629TBXAS1c.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)
7g.139962026C>ACA369584633TBXAS1c.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)
7g.139962026C>GCA369584635TBXAS1c.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)
7g.139962026C>TCA458115421TBXAS1c.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=)
7g.139962027A=CA1747341060TBXAS1c.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=)
7g.139962027A>CCA369584640TBXAS1c.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)
7g.139962027A>GCA4511849TBXAS1c.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
7g.139962027A>TCA369584646TBXAS1c.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)
7g.139962028A=CA1747341061TBXAS1c.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=)
7g.139962028A>CCA4511850TBXAS1c.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
7g.139962028A>GCA369584653TBXAS1c.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)
7g.139962028A>TCA369584657TBXAS1c.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)
7g.139962029G>ACA458115424TBXAS1c.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
7g.139962029G>CCA369584662TBXAS1c.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)
7g.139962029G>TCA369584664TBXAS1c.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)
7g.139962030C>ACA369584670TBXAS1c.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)
7g.139962030C>GCA369584673TBXAS1c.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)
7g.139962030C>TCA369584675TBXAS1c.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
7g.139962031C>ACA369584681TBXAS1c.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)
7g.139962031C=CA1747341062TBXAS1c.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=)
7g.139962031C>GCA4511851TBXAS1c.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
7g.139962031C>TCA4511852TBXAS1c.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
7g.139962032G>ACA4511853TBXAS1c.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
7g.139962032G>CCA458115425TBXAS1c.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=)
7g.139962032G=CA1747341063TBXAS1c.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=)
7g.139962032G>TCA458115426TBXAS1c.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=)
7g.139962033A>CCA369584694TBXAS1c.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)
7g.139962033A>GCA369584695TBXAS1c.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)
7g.139962033A>TCA369584698TBXAS1c.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)
7g.139962034A>CCA369584703TBXAS1c.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)
7g.139962034A>GCA369584705TBXAS1c.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)
7g.139962034A>TCA369584707TBXAS1c.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)
7g.139962035C>ACA369584712TBXAS1c.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
7g.139962035C=CA1747341064TBXAS1c.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=)
7g.139962035C>GCA369584710TBXAS1c.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
7g.139962035C>TCA458115427TBXAS1c.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
7g.139962036C>ACA369584717TBXAS1c.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
7g.139962036C>GCA369584723TBXAS1c.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)
7g.139962036C>TCA369584720TBXAS1c.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)
7g.139962037C>ACA369584728TBXAS1c.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)
7g.139962037C>GCA369584731TBXAS1c.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)
7g.139962037C>TCA369584734TBXAS1c.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
7g.139962038T>ACA458115429TBXAS1c.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=)
7g.139962038T>CCA167953444TBXAS1c.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
7g.139962038T>GCA458115428TBXAS1c.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=)
7g.139962038T=CA1747341065TBXAS1c.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=)
7g.139962039T>ACA369584738TBXAS1c.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)
7g.139962039T>CCA369584739TBXAS1c.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)
7g.139962039T>GCA369584742TBXAS1c.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)
7g.139962039_139962040delinsTCCA1747341066TBXAS1c.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=)
7g.139962040C>ACA369584745TBXAS1c.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
7g.139962040C=CA1747341067TBXAS1c.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=)
7g.139962040C>GCA369584748TBXAS1c.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)
7g.139962040C>TCA369584750TBXAS1c.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
7g.139962042delCA167953445TBXAS1c.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
7g.139962041C>ACA458115430TBXAS1c.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
7g.139962041C>GCA458115431TBXAS1c.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=)
7g.139962041C>TCA458115432TBXAS1c.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
7g.139962042C>ACA458115433TBXAS1c.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=)
7g.139962042C=CA1747341068TBXAS1c.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=)
7g.139962042C>GCA369584755TBXAS1c.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)
7g.139962042C>TCA369584757TBXAS1c.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
7g.139962043G>ACA4511854TBXAS1c.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
7g.139962043G>CCA369584763TBXAS1c.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)
7g.139962043G=CA1747341069TBXAS1c.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=)
7g.139962043G>TCA369584761TBXAS1c.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)
7g.139962044G>ACA458115435TBXAS1c.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=)
7g.139962044G>CCA458115434TBXAS1c.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=)
7g.139962044G>TCA458115436TBXAS1c.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=)
7g.139962045C>ACA167953446TBXAS1c.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
7g.139962045C=CA1747341070TBXAS1c.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=)
7g.139962045C>GCA369584769TBXAS1c.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)
7g.139962045C>TCA369584772TBXAS1c.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
7g.139962046A>CCA369584775TBXAS1c.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)
7g.139962046A>GCA369584776TBXAS1c.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)
7g.139962046A>TCA369584779TBXAS1c.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)
7g.139962046_139962048delinsAACCA1747341071TBXAS1c.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=)
7g.139962047A>CCA369584781TBXAS1c.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)
7g.139962047A>GCA458115437TBXAS1c.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=)
7g.139962047A>TCA369584782TBXAS1c.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)
7g.139962049_139962050delCA4511855TBXAS1c.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
7g.139962048C>ACA369584783TBXAS1c.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)
7g.139962048C=CA1747341072TBXAS1c.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=)
7g.139962048C>GCA369584784TBXAS1c.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
7g.139962048C>TCA369584785TBXAS1c.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
7g.139962049A=CA1747341073TBXAS1c.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=)
7g.139962049A>CCA369584787TBXAS1c.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)
7g.139962049A>GCA369584788TBXAS1c.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
7g.139962049A>TCA369584786TBXAS1c.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)
7g.139962050C>ACA369584789TBXAS1c.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)
7g.139962050C=CA1747341074TBXAS1c.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=)
7g.139962050C>GCA369584790TBXAS1c.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)
7g.139962050C>TCA4511857TBXAS1c.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
7g.139962057_139962061dupCA4511856TBXAS1c.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
7g.139962051C>ACA369584791TBXAS1c.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)
7g.139962051C=CA1747341075TBXAS1c.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=)
7g.139962051C>GCA4511858TBXAS1c.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
7g.139962051C>TCA369584792TBXAS1c.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
7g.139962052A=CA1747341076TBXAS1c.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=)
7g.139962052A>CCA369584793TBXAS1c.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)
7g.139962052A>GCA369584794TBXAS1c.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)
7g.139962052A>TCA369584795TBXAS1c.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
7g.139962053G>ACA458115438TBXAS1c.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=)
7g.139962053G>CCA369584796TBXAS1c.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
7g.139962053G>TCA369584797TBXAS1c.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
7g.139962054C>ACA369584803TBXAS1c.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)
7g.139962054C>GCA369584798TBXAS1c.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)
7g.139962054C>TCA369584801TBXAS1c.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
7g.139962055C>ACA369584806TBXAS1c.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)
7g.139962055C=CA1747341077TBXAS1c.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=)
7g.139962055C>GCA4511859TBXAS1c.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
7g.139962055C>TCA369584811TBXAS1c.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
7g.139962056C>ACA458115439TBXAS1c.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=)
7g.139962056C>GCA458115440TBXAS1c.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=)
7g.139962056C>TCA458115441TBXAS1c.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=)
7g.139962057A>CCA369584813TBXAS1c.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)
7g.139962057A>GCA369584815TBXAS1c.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)
7g.139962057A>TCA369584817TBXAS1c.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)
7g.139962058G>ACA369584820TBXAS1c.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
7g.139962058G>CCA369584822TBXAS1c.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)
7g.139962058G>TCA369584824TBXAS1c.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)
7g.139962059C>ACA369584826TBXAS1c.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)
7g.139962059C>GCA369584829TBXAS1c.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)
7g.139962059C>TCA458115442TBXAS1c.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
7g.139962060C>ACA369584834TBXAS1c.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)
7g.139962060C=CA1747341078TBXAS1c.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=)
7g.139962060C>GCA369584837TBXAS1c.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)
7g.139962060C>TCA4511860TBXAS1c.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
7g.139962061C>ACA369584845TBXAS1c.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)
7g.139962061C=CA1747341079TBXAS1c.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=)
7g.139962061C>GCA4511861TBXAS1c.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
7g.139962061C>TCA369584843TBXAS1c.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)
7g.139962062T>ACA458115443TBXAS1c.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=)
7g.139962062T>CCA458115444TBXAS1c.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
7g.139962062T>GCA458115445TBXAS1c.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
7g.139962063A=CA1747341080TBXAS1c.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=)
7g.139962063A>CCA369584849TBXAS1c.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)
7g.139962063A>GCA4511862TBXAS1c.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
7g.139962063A>TCA369584853TBXAS1c.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)
7g.139962064T>ACA167953447TBXAS1c.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
7g.139962064T>CCA4511863TBXAS1c.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
7g.139962064T>GCA369584859TBXAS1c.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)
7g.139962064T=CA1747341081TBXAS1c.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=)
7g.139962065G>ACA369584863TBXAS1c.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
7g.139962065G>CCA369584865TBXAS1c.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)
7g.139962065G>TCA369584868TBXAS1c.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)
7g.139962066G>ACA369584877TBXAS1c.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)
7g.139962066G>CCA4511864TBXAS1c.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
7g.139962066G=CA1747341082TBXAS1c.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=)
7g.139962066G>TCA369584872TBXAS1c.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)
7g.139962067C>ACA369584881TBXAS1c.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)
7g.139962067C=CA1747341083TBXAS1c.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=)
7g.139962067C>GCA369584883TBXAS1c.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)
7g.139962067C>TCA369584886TBXAS1c.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
7g.139962068C>ACA458115446TBXAS1c.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=)
7g.139962068C>GCA458115447TBXAS1c.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=)
7g.139962068C>TCA458115448TBXAS1c.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=)
7g.139962069A>CCA458115449TBXAS1c.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=)
7g.139962069A>GCA369584890TBXAS1c.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)
7g.139962069A>TCA369584892TBXAS1c.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)
7g.139962070G>ACA369584897TBXAS1c.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
7g.139962070G>CCA369584899TBXAS1c.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)
7g.139962070G=CA1747341084TBXAS1c.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=)
7g.139962070G>TCA369584902TBXAS1c.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)
7g.139962071G>ACA458115450TBXAS1c.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
7g.139962071G>CCA369584906TBXAS1c.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)
7g.139962071G>TCA369584908TBXAS1c.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)
7g.139962071_139962080delinsGCCTTTGACTCA1747341085TBXAS1c.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=)
7g.139962072C>ACA369584911TBXAS1c.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
7g.139962072C=CA1747341087TBXAS1c.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=)
7g.139962072C>GCA369584914TBXAS1c.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)
7g.139962072C>TCA369584916TBXAS1c.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)
7g.139962072_139962080delCA1747341086TBXAS1c.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
7g.139962073C>ACA369584922TBXAS1c.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
7g.139962073C>GCA369584924TBXAS1c.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
7g.139962073C>TCA369584920TBXAS1c.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)
7g.139962074T>ACA458115451TBXAS1c.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=)
7g.139962074T>CCA458115452TBXAS1c.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=)
7g.139962074T>GCA458115453TBXAS1c.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=)
7g.139962075T>ACA369584926TBXAS1c.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)
7g.139962075T>CCA458115454TBXAS1c.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
7g.139962075T>GCA369584929TBXAS1c.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)
7g.139962076T>ACA369584933TBXAS1c.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)
7g.139962076T>CCA369584935TBXAS1c.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)
7g.139962076T>GCA369584938TBXAS1c.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)
7g.139962078_139962081delCA2685190568TBXAS1c.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
7g.139962076_139962088delinsTGACTGTGGATGACA1747341088TBXAS1c.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=)
7g.139962077G>ACA4511865TBXAS1c.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
7g.139962077G>CCA369584942TBXAS1c.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)
7g.139962077G=CA1747341089TBXAS1c.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=)
7g.139962077G>TCA369584943TBXAS1c.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)
7g.139962079_139962090delCA578624652TBXAS1c.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
7g.139962078A>CCA369584946TBXAS1c.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)
7g.139962078A>GCA369584949TBXAS1c.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)
7g.139962078A>TCA369584951TBXAS1c.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)
7g.139962079C>ACA369584955TBXAS1c.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)
7g.139962079C>GCA369584957TBXAS1c.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)
7g.139962079C>TCA369584959TBXAS1c.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
7g.139962080T>ACA458115457TBXAS1c.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
7g.139962080T>CCA458115456TBXAS1c.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=)
7g.139962080T>GCA458115455TBXAS1c.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=)
7g.139962081G>ACA369584968TBXAS1c.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
7g.139962081G>CCA369584965TBXAS1c.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)
7g.139962081G>TCA369584963TBXAS1c.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)
7g.139962082T>ACA369584972TBXAS1c.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)
7g.139962082T>CCA369584974TBXAS1c.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)
7g.139962082T>GCA369584976TBXAS1c.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)
7g.139962083G>ACA458115458TBXAS1c.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
7g.139962083G>CCA458115459TBXAS1c.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=)
7g.139962083G=CA1747341090TBXAS1c.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=)
7g.139962083G>TCA458115460TBXAS1c.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=)
7g.139962083_139962084insACA1747341091TBXAS1c.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
7g.139962084G>ACA369584978TBXAS1c.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)
7g.139962084G>CCA369584981TBXAS1c.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)
7g.139962084G>TCA369584984TBXAS1c.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)
7g.139962085A>CCA369584988TBXAS1c.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)
7g.139962085A>GCA369584990TBXAS1c.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)
7g.139962085A>TCA369584993TBXAS1c.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
7g.139962086T>ACA369584996TBXAS1c.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)
7g.139962086T>CCA458115461TBXAS1c.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=)
7g.139962086T>GCA369584998TBXAS1c.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
7g.139962087G>ACA369585001TBXAS1c.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
7g.139962087G>CCA369585003TBXAS1c.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)
7g.139962087G=CA1747341092TBXAS1c.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=)
7g.139962087G>TCA369585006TBXAS1c.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)
7g.139962088A=CA1747341093TBXAS1c.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=)
7g.139962088A>CCA369585011TBXAS1c.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)
7g.139962088A>GCA369585013TBXAS1c.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)
7g.139962088A>TCA369585008TBXAS1c.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
7g.139962089G>ACA458115462TBXAS1c.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
7g.139962089G>CCA369585018TBXAS1c.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)
7g.139962089G=CA1747341094TBXAS1c.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=)
7g.139962089G>TCA369585016TBXAS1c.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)
7g.139962090A=CA1747341095TBXAS1c.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=)
7g.139962090A>CCA369585024TBXAS1c.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)
7g.139962090A>GCA369585021TBXAS1c.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)
7g.139962090A>TCA4511866TBXAS1c.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
7g.139962091T>ACA369585030TBXAS1c.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)
7g.139962091T>CCA4511867TBXAS1c.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
7g.139962091T>GCA369585033TBXAS1c.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)
7g.139962091T=CA1747341096TBXAS1c.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=)
7g.139962092T>ACA458115463TBXAS1c.993T>A (p.Ile331=)
c.*782T>A (n.*782T>A)
c.1131T>A (p.Ile377=)
c.996T>A (p.Ile332=)
c.1134T>A (p.Ile378=)
c.792T>A (p.Ile264=)
n.964T>A
n.476T>A
n.358T>A
c.936T>A (p.Ile312=)
c.-4294966036T>A
c.810T>A (p.Ile270=)
c.738T>A (p.Ile246=)
7g.139962092T>CCA458115464TBXAS1c.993T>C (p.Ile331=)
c.*782T>C (n.*782T>C)
c.1131T>C (p.Ile377=)
c.996T>C (p.Ile332=)
c.1134T>C (p.Ile378=)
c.792T>C (p.Ile264=)
n.964T>C
n.476T>C
n.358T>C
c.936T>C (p.Ile312=)
c.-4294966036T>C
c.810T>C (p.Ile270=)
c.738T>C (p.Ile246=)
7g.139962092T>GCA369585038TBXAS1c.993T>G (p.Ile331Met)
c.*782T>G (n.*782T>G)
c.1131T>G (p.Ile377Met)
c.996T>G (p.Ile332Met)
c.1134T>G (p.Ile378Met)
c.792T>G (p.Ile264Met)
n.964T>G
n.476T>G
n.358T>G
c.936T>G (p.Ile312Met)
c.-4294966036T>G
c.810T>G (p.Ile270Met)
c.738T>G (p.Ile246Met)

Number of alleles fetched