Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.139961971C>ACA369584134TBXAS1c.872C>A (p.Pro291His)
c.*661C>A (n.*661C>A)
c.1010C>A (p.Pro337His)
c.875C>A (p.Pro292His)
c.1013C>A (p.Pro338His)
c.671C>A (p.Pro224His)
n.843C>A
n.355C>A
n.237C>A
c.815C>A (p.Pro272His)
c.-4294966157C>A
c.689C>A (p.Pro230His)
c.617C>A (p.Pro206His)
7g.139961971C>GCA369584137TBXAS1c.872C>G (p.Pro291Arg)
c.*661C>G (n.*661C>G)
c.1010C>G (p.Pro337Arg)
c.875C>G (p.Pro292Arg)
c.1013C>G (p.Pro338Arg)
c.671C>G (p.Pro224Arg)
n.843C>G
n.355C>G
n.237C>G
c.815C>G (p.Pro272Arg)
c.-4294966157C>G
c.689C>G (p.Pro230Arg)
c.617C>G (p.Pro206Arg)
7g.139961971C>TCA369584139TBXAS1c.872C>T (p.Pro291Leu)
c.*661C>T (n.*661C>T)
c.1010C>T (p.Pro337Leu)
c.875C>T (p.Pro292Leu)
c.1013C>T (p.Pro338Leu)
c.671C>T (p.Pro224Leu)
n.843C>T
n.355C>T
n.237C>T
c.815C>T (p.Pro272Leu)
c.-4294966157C>T
c.689C>T (p.Pro230Leu)
c.617C>T (p.Pro206Leu)
7g.139961972C>ACA458115361TBXAS1c.873C>A (p.Pro291=)
c.*662C>A (n.*662C>A)
c.1011C>A (p.Pro337=)
c.876C>A (p.Pro292=)
c.1014C>A (p.Pro338=)
c.672C>A (p.Pro224=)
n.844C>A
n.356C>A
n.238C>A
c.816C>A (p.Pro272=)
c.-4294966156C>A
c.690C>A (p.Pro230=)
c.618C>A (p.Pro206=)
7g.139961972C>GCA458115363TBXAS1c.873C>G (p.Pro291=)
c.*662C>G (n.*662C>G)
c.1011C>G (p.Pro337=)
c.876C>G (p.Pro292=)
c.1014C>G (p.Pro338=)
c.672C>G (p.Pro224=)
n.844C>G
n.356C>G
n.238C>G
c.816C>G (p.Pro272=)
c.-4294966156C>G
c.690C>G (p.Pro230=)
c.618C>G (p.Pro206=)
7g.139961972C>TCA458115364TBXAS1c.873C>T (p.Pro291=)
c.*662C>T (n.*662C>T)
c.1011C>T (p.Pro337=)
c.876C>T (p.Pro292=)
c.1014C>T (p.Pro338=)
c.672C>T (p.Pro224=)
n.844C>T
n.356C>T
n.238C>T
c.816C>T (p.Pro272=)
c.-4294966156C>T
c.690C>T (p.Pro230=)
c.618C>T (p.Pro206=)
7g.139961973A=CA1747341028TBXAS1c.874A= (p.Met292=)
c.*663A= (n.*663A=)
c.1012A= (p.Met338=)
c.877A= (p.Met293=)
c.1015A= (p.Met339=)
c.673A= (p.Met225=)
n.845A=
n.357A=
n.239A=
c.817A= (p.Met273=)
c.-4294966155A=
c.691A= (p.Met231=)
c.619A= (p.Met207=)
7g.139961973A>CCA369584146TBXAS1c.874A>C (p.Met292Leu)
c.*663A>C (n.*663A>C)
c.1012A>C (p.Met338Leu)
c.877A>C (p.Met293Leu)
c.1015A>C (p.Met339Leu)
c.673A>C (p.Met225Leu)
n.845A>C
n.357A>C
n.239A>C
c.817A>C (p.Met273Leu)
c.-4294966155A>C
c.691A>C (p.Met231Leu)
c.619A>C (p.Met207Leu)
7g.139961973A>GCA369584149TBXAS1c.874A>G (p.Met292Val)
c.*663A>G (n.*663A>G)
c.1012A>G (p.Met338Val)
c.877A>G (p.Met293Val)
c.1015A>G (p.Met339Val)
c.673A>G (p.Met225Val)
n.845A>G
n.357A>G
n.239A>G
c.817A>G (p.Met273Val)
c.-4294966155A>G
c.691A>G (p.Met231Val)
c.619A>G (p.Met207Val)
 dbSNP gnomAD v4
7g.139961973A>TCA369584152TBXAS1c.874A>T (p.Met292Leu)
c.*663A>T (n.*663A>T)
c.1012A>T (p.Met338Leu)
c.877A>T (p.Met293Leu)
c.1015A>T (p.Met339Leu)
c.673A>T (p.Met225Leu)
n.845A>T
n.357A>T
n.239A>T
c.817A>T (p.Met273Leu)
c.-4294966155A>T
c.691A>T (p.Met231Leu)
c.619A>T (p.Met207Leu)
7g.139961974T>ACA369584157TBXAS1c.875T>A (p.Met292Lys)
c.*664T>A (n.*664T>A)
c.1013T>A (p.Met338Lys)
c.878T>A (p.Met293Lys)
c.1016T>A (p.Met339Lys)
c.674T>A (p.Met225Lys)
n.846T>A
n.358T>A
n.240T>A
c.818T>A (p.Met273Lys)
c.-4294966154T>A
c.692T>A (p.Met231Lys)
c.620T>A (p.Met207Lys)
7g.139961974T>CCA4511834TBXAS1c.875T>C (p.Met292Thr)
c.*664T>C (n.*664T>C)
c.1013T>C (p.Met338Thr)
c.878T>C (p.Met293Thr)
c.1016T>C (p.Met339Thr)
c.674T>C (p.Met225Thr)
n.846T>C
n.358T>C
n.240T>C
c.818T>C (p.Met273Thr)
c.-4294966154T>C
c.692T>C (p.Met231Thr)
c.620T>C (p.Met207Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.139961974T>GCA369584161TBXAS1c.875T>G (p.Met292Arg)
c.*664T>G (n.*664T>G)
c.1013T>G (p.Met338Arg)
c.878T>G (p.Met293Arg)
c.1016T>G (p.Met339Arg)
c.674T>G (p.Met225Arg)
n.846T>G
n.358T>G
n.240T>G
c.818T>G (p.Met273Arg)
c.-4294966154T>G
c.692T>G (p.Met231Arg)
c.620T>G (p.Met207Arg)
7g.139961974T=CA1747341029TBXAS1c.875T= (p.Met292=)
c.*664T= (n.*664T=)
c.1013T= (p.Met338=)
c.878T= (p.Met293=)
c.1016T= (p.Met339=)
c.674T= (p.Met225=)
n.846T=
n.358T=
n.240T=
c.818T= (p.Met273=)
c.-4294966154T=
c.692T= (p.Met231=)
c.620T= (p.Met207=)
7g.139961975G>ACA4511835TBXAS1c.876G>A (p.Met292Ile)
c.*665G>A (n.*665G>A)
c.1014G>A (p.Met338Ile)
c.879G>A (p.Met293Ile)
c.1017G>A (p.Met339Ile)
c.675G>A (p.Met225Ile)
n.847G>A
n.359G>A
n.241G>A
c.819G>A (p.Met273Ile)
c.-4294966153G>A
c.693G>A (p.Met231Ile)
c.621G>A (p.Met207Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.139961975G>CCA369584169TBXAS1c.876G>C (p.Met292Ile)
c.*665G>C (n.*665G>C)
c.1014G>C (p.Met338Ile)
c.879G>C (p.Met293Ile)
c.1017G>C (p.Met339Ile)
c.675G>C (p.Met225Ile)
n.847G>C
n.359G>C
n.241G>C
c.819G>C (p.Met273Ile)
c.-4294966153G>C
c.693G>C (p.Met231Ile)
c.621G>C (p.Met207Ile)
7g.139961975G=CA1747341030TBXAS1c.876G= (p.Met292=)
c.*665G= (n.*665G=)
c.1014G= (p.Met338=)
c.879G= (p.Met293=)
c.1017G= (p.Met339=)
c.675G= (p.Met225=)
n.847G=
n.359G=
n.241G=
c.819G= (p.Met273=)
c.-4294966153G=
c.693G= (p.Met231=)
c.621G= (p.Met207=)
7g.139961975G>TCA369584173TBXAS1c.876G>T (p.Met292Ile)
c.*665G>T (n.*665G>T)
c.1014G>T (p.Met338Ile)
c.879G>T (p.Met293Ile)
c.1017G>T (p.Met339Ile)
c.675G>T (p.Met225Ile)
n.847G>T
n.359G>T
n.241G>T
c.819G>T (p.Met273Ile)
c.-4294966153G>T
c.693G>T (p.Met231Ile)
c.621G>T (p.Met207Ile)
7g.139961976G>ACA369584179TBXAS1c.877G>A (p.Gly293Ser)
c.*666G>A (n.*666G>A)
c.1015G>A (p.Gly339Ser)
c.880G>A (p.Gly294Ser)
c.1018G>A (p.Gly340Ser)
c.676G>A (p.Gly226Ser)
n.848G>A
n.360G>A
n.242G>A
c.820G>A (p.Gly274Ser)
c.-4294966152G>A
c.694G>A (p.Gly232Ser)
c.622G>A (p.Gly208Ser)
7g.139961976G>CCA4511836TBXAS1c.877G>C (p.Gly293Arg)
c.*666G>C (n.*666G>C)
c.1015G>C (p.Gly339Arg)
c.880G>C (p.Gly294Arg)
c.1018G>C (p.Gly340Arg)
c.676G>C (p.Gly226Arg)
n.848G>C
n.360G>C
n.242G>C
c.820G>C (p.Gly274Arg)
c.-4294966152G>C
c.694G>C (p.Gly232Arg)
c.622G>C (p.Gly208Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.139961976G=CA1747341031TBXAS1c.877G= (p.Gly293=)
c.*666G= (n.*666G=)
c.1015G= (p.Gly339=)
c.880G= (p.Gly294=)
c.1018G= (p.Gly340=)
c.676G= (p.Gly226=)
n.848G=
n.360G=
n.242G=
c.820G= (p.Gly274=)
c.-4294966152G=
c.694G= (p.Gly232=)
c.622G= (p.Gly208=)
7g.139961976G>TCA369584176TBXAS1c.877G>T (p.Gly293Cys)
c.*666G>T (n.*666G>T)
c.1015G>T (p.Gly339Cys)
c.880G>T (p.Gly294Cys)
c.1018G>T (p.Gly340Cys)
c.676G>T (p.Gly226Cys)
n.848G>T
n.360G>T
n.242G>T
c.820G>T (p.Gly274Cys)
c.-4294966152G>T
c.694G>T (p.Gly232Cys)
c.622G>T (p.Gly208Cys)
7g.139961977G>ACA4511837TBXAS1c.878G>A (p.Gly293Asp)
c.*667G>A (n.*667G>A)
c.1016G>A (p.Gly339Asp)
c.881G>A (p.Gly294Asp)
c.1019G>A (p.Gly340Asp)
c.677G>A (p.Gly226Asp)
n.849G>A
n.361G>A
n.243G>A
c.821G>A (p.Gly274Asp)
c.-4294966151G>A
c.695G>A (p.Gly232Asp)
c.623G>A (p.Gly208Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.139961977G>CCA369584190TBXAS1c.878G>C (p.Gly293Ala)
c.*667G>C (n.*667G>C)
c.1016G>C (p.Gly339Ala)
c.881G>C (p.Gly294Ala)
c.1019G>C (p.Gly340Ala)
c.677G>C (p.Gly226Ala)
n.849G>C
n.361G>C
n.243G>C
c.821G>C (p.Gly274Ala)
c.-4294966151G>C
c.695G>C (p.Gly232Ala)
c.623G>C (p.Gly208Ala)
7g.139961977G=CA1747341032TBXAS1c.878G= (p.Gly293=)
c.*667G= (n.*667G=)
c.1016G= (p.Gly339=)
c.881G= (p.Gly294=)
c.1019G= (p.Gly340=)
c.677G= (p.Gly226=)
n.849G=
n.361G=
n.243G=
c.821G= (p.Gly274=)
c.-4294966151G=
c.695G= (p.Gly232=)
c.623G= (p.Gly208=)
7g.139961977G>TCA369584193TBXAS1c.878G>T (p.Gly293Val)
c.*667G>T (n.*667G>T)
c.1016G>T (p.Gly339Val)
c.881G>T (p.Gly294Val)
c.1019G>T (p.Gly340Val)
c.677G>T (p.Gly226Val)
n.849G>T
n.361G>T
n.243G>T
c.821G>T (p.Gly274Val)
c.-4294966151G>T
c.695G>T (p.Gly232Val)
c.623G>T (p.Gly208Val)
 COSMIC COSMIC
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.139961978C>ACA4511839TBXAS1c.879C>A (p.Gly293=)
c.*668C>A (n.*668C>A)
c.1017C>A (p.Gly339=)
c.882C>A (p.Gly294=)
c.1020C>A (p.Gly340=)
c.678C>A (p.Gly226=)
n.850C>A
n.362C>A
n.244C>A
c.822C>A (p.Gly274=)
c.-4294966150C>A
c.696C>A (p.Gly232=)
c.624C>A (p.Gly208=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.139961978C=CA1747341034TBXAS1c.879C= (p.Gly293=)
c.*668C= (n.*668C=)
c.1017C= (p.Gly339=)
c.882C= (p.Gly294=)
c.1020C= (p.Gly340=)
c.678C= (p.Gly226=)
n.850C=
n.362C=
n.244C=
c.822C= (p.Gly274=)
c.-4294966150C=
c.696C= (p.Gly232=)
c.624C= (p.Gly208=)
7g.139961978C>GCA458115368TBXAS1c.879C>G (p.Gly293=)
c.*668C>G (n.*668C>G)
c.1017C>G (p.Gly339=)
c.882C>G (p.Gly294=)
c.1020C>G (p.Gly340=)
c.678C>G (p.Gly226=)
n.850C>G
n.362C>G
n.244C>G
c.822C>G (p.Gly274=)
c.-4294966150C>G
c.696C>G (p.Gly232=)
c.624C>G (p.Gly208=)
 dbSNP
7g.139961978C>TCA4511838TBXAS1c.879C>T (p.Gly293=)
c.*668C>T (n.*668C>T)
c.1017C>T (p.Gly339=)
c.882C>T (p.Gly294=)
c.1020C>T (p.Gly340=)
c.678C>T (p.Gly226=)
n.850C>T
n.362C>T
n.244C>T
c.822C>T (p.Gly274=)
c.-4294966150C>T
c.696C>T (p.Gly232=)
c.624C>T (p.Gly208=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
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.139961979G>ACA4511840TBXAS1c.880G>A (p.Val294Met)
c.*669G>A (n.*669G>A)
c.1018G>A (p.Val340Met)
c.883G>A (p.Val295Met)
c.1021G>A (p.Val341Met)
c.679G>A (p.Val227Met)
n.851G>A
n.363G>A
n.245G>A
c.823G>A (p.Val275Met)
c.-4294966149G>A
c.697G>A (p.Val233Met)
c.625G>A (p.Val209Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.139961979G>CCA369584204TBXAS1c.880G>C (p.Val294Leu)
c.*669G>C (n.*669G>C)
c.1018G>C (p.Val340Leu)
c.883G>C (p.Val295Leu)
c.1021G>C (p.Val341Leu)
c.679G>C (p.Val227Leu)
n.851G>C
n.363G>C
n.245G>C
c.823G>C (p.Val275Leu)
c.-4294966149G>C
c.697G>C (p.Val233Leu)
c.625G>C (p.Val209Leu)
7g.139961979G=CA1747341036TBXAS1c.880G= (p.Val294=)
c.*669G= (n.*669G=)
c.1018G= (p.Val340=)
c.883G= (p.Val295=)
c.1021G= (p.Val341=)
c.679G= (p.Val227=)
n.851G=
n.363G=
n.245G=
c.823G= (p.Val275=)
c.-4294966149G=
c.697G= (p.Val233=)
c.625G= (p.Val209=)
7g.139961979G>TCA4511841TBXAS1c.880G>T (p.Val294Leu)
c.*669G>T (n.*669G>T)
c.1018G>T (p.Val340Leu)
c.883G>T (p.Val295Leu)
c.1021G>T (p.Val341Leu)
c.679G>T (p.Val227Leu)
n.851G>T
n.363G>T
n.245G>T
c.823G>T (p.Val275Leu)
c.-4294966149G>T
c.697G>T (p.Val233Leu)
c.625G>T (p.Val209Leu)
 dbSNP ExAC gnomAD v2
7g.139961980T>ACA369584212TBXAS1c.881T>A (p.Val294Glu)
c.*670T>A (n.*670T>A)
c.1019T>A (p.Val340Glu)
c.884T>A (p.Val295Glu)
c.1022T>A (p.Val341Glu)
c.680T>A (p.Val227Glu)
n.852T>A
n.364T>A
n.246T>A
c.824T>A (p.Val275Glu)
c.-4294966148T>A
c.698T>A (p.Val233Glu)
c.626T>A (p.Val209Glu)
7g.139961980T>CCA369584214TBXAS1c.881T>C (p.Val294Ala)
c.*670T>C (n.*670T>C)
c.1019T>C (p.Val340Ala)
c.884T>C (p.Val295Ala)
c.1022T>C (p.Val341Ala)
c.680T>C (p.Val227Ala)
n.852T>C
n.364T>C
n.246T>C
c.824T>C (p.Val275Ala)
c.-4294966148T>C
c.698T>C (p.Val233Ala)
c.626T>C (p.Val209Ala)
7g.139961980T>GCA369584218TBXAS1c.881T>G (p.Val294Gly)
c.*670T>G (n.*670T>G)
c.1019T>G (p.Val340Gly)
c.884T>G (p.Val295Gly)
c.1022T>G (p.Val341Gly)
c.680T>G (p.Val227Gly)
n.852T>G
n.364T>G
n.246T>G
c.824T>G (p.Val275Gly)
c.-4294966148T>G
c.698T>G (p.Val233Gly)
c.626T>G (p.Val209Gly)
7g.139961981G>ACA458115370TBXAS1c.882G>A (p.Val294=)
c.*671G>A (n.*671G>A)
c.1020G>A (p.Val340=)
c.885G>A (p.Val295=)
c.1023G>A (p.Val341=)
c.681G>A (p.Val227=)
n.853G>A
n.365G>A
n.247G>A
c.825G>A (p.Val275=)
c.-4294966147G>A
c.699G>A (p.Val233=)
c.627G>A (p.Val209=)
7g.139961981G>CCA458115372TBXAS1c.882G>C (p.Val294=)
c.*671G>C (n.*671G>C)
c.1020G>C (p.Val340=)
c.885G>C (p.Val295=)
c.1023G>C (p.Val341=)
c.681G>C (p.Val227=)
n.853G>C
n.365G>C
n.247G>C
c.825G>C (p.Val275=)
c.-4294966147G>C
c.699G>C (p.Val233=)
c.627G>C (p.Val209=)
7g.139961981G>TCA458115371TBXAS1c.882G>T (p.Val294=)
c.*671G>T (n.*671G>T)
c.1020G>T (p.Val340=)
c.885G>T (p.Val295=)
c.1023G>T (p.Val341=)
c.681G>T (p.Val227=)
n.853G>T
n.365G>T
n.247G>T
c.825G>T (p.Val275=)
c.-4294966147G>T
c.699G>T (p.Val233=)
c.627G>T (p.Val209=)
7g.139961982C>ACA369584222TBXAS1c.883C>A (p.Gln295Lys)
c.*672C>A (n.*672C>A)
c.1021C>A (p.Gln341Lys)
c.886C>A (p.Gln296Lys)
c.1024C>A (p.Gln342Lys)
c.682C>A (p.Gln228Lys)
n.854C>A
n.366C>A
n.248C>A
c.826C>A (p.Gln276Lys)
c.-4294966146C>A
c.700C>A (p.Gln234Lys)
c.628C>A (p.Gln210Lys)
7g.139961982C>GCA369584226TBXAS1c.883C>G (p.Gln295Glu)
c.*672C>G (n.*672C>G)
c.1021C>G (p.Gln341Glu)
c.886C>G (p.Gln296Glu)
c.1024C>G (p.Gln342Glu)
c.682C>G (p.Gln228Glu)
n.854C>G
n.366C>G
n.248C>G
c.826C>G (p.Gln276Glu)
c.-4294966146C>G
c.700C>G (p.Gln234Glu)
c.628C>G (p.Gln210Glu)
7g.139961982C>TCA369584230TBXAS1c.883C>T (p.Gln295Ter)
c.*672C>T (n.*672C>T)
c.1021C>T (p.Gln341Ter)
c.886C>T (p.Gln296Ter)
c.1024C>T (p.Gln342Ter)
c.682C>T (p.Gln228Ter)
n.854C>T
n.366C>T
n.248C>T
c.826C>T (p.Gln276Ter)
c.-4294966146C>T
c.700C>T (p.Gln234Ter)
c.628C>T (p.Gln210Ter)
7g.139961983A>CCA369584241TBXAS1c.884A>C (p.Gln295Pro)
c.*673A>C (n.*673A>C)
c.1022A>C (p.Gln341Pro)
c.887A>C (p.Gln296Pro)
c.1025A>C (p.Gln342Pro)
c.683A>C (p.Gln228Pro)
n.855A>C
n.367A>C
n.249A>C
c.827A>C (p.Gln276Pro)
c.-4294966145A>C
c.701A>C (p.Gln234Pro)
c.629A>C (p.Gln210Pro)
7g.139961983A>GCA369584244TBXAS1c.884A>G (p.Gln295Arg)
c.*673A>G (n.*673A>G)
c.1022A>G (p.Gln341Arg)
c.887A>G (p.Gln296Arg)
c.1025A>G (p.Gln342Arg)
c.683A>G (p.Gln228Arg)
n.855A>G
n.367A>G
n.249A>G
c.827A>G (p.Gln276Arg)
c.-4294966145A>G
c.701A>G (p.Gln234Arg)
c.629A>G (p.Gln210Arg)
7g.139961983A>TCA369584235TBXAS1c.884A>T (p.Gln295Leu)
c.*673A>T (n.*673A>T)
c.1022A>T (p.Gln341Leu)
c.887A>T (p.Gln296Leu)
c.1025A>T (p.Gln342Leu)
c.683A>T (p.Gln228Leu)
n.855A>T
n.367A>T
n.249A>T
c.827A>T (p.Gln276Leu)
c.-4294966145A>T
c.701A>T (p.Gln234Leu)
c.629A>T (p.Gln210Leu)
7g.139961984A>CCA369584252TBXAS1c.885A>C (p.Gln295His)
c.*674A>C (n.*674A>C)
c.1023A>C (p.Gln341His)
c.888A>C (p.Gln296His)
c.1026A>C (p.Gln342His)
c.684A>C (p.Gln228His)
n.856A>C
n.368A>C
n.250A>C
c.828A>C (p.Gln276His)
c.-4294966144A>C
c.702A>C (p.Gln234His)
c.630A>C (p.Gln210His)
7g.139961984A>GCA458115376TBXAS1c.885A>G (p.Gln295=)
c.*674A>G (n.*674A>G)
c.1023A>G (p.Gln341=)
c.888A>G (p.Gln296=)
c.1026A>G (p.Gln342=)
c.684A>G (p.Gln228=)
n.856A>G
n.368A>G
n.250A>G
c.828A>G (p.Gln276=)
c.-4294966144A>G
c.702A>G (p.Gln234=)
c.630A>G (p.Gln210=)
7g.139961984A>TCA369584249TBXAS1c.885A>T (p.Gln295His)
c.*674A>T (n.*674A>T)
c.1023A>T (p.Gln341His)
c.888A>T (p.Gln296His)
c.1026A>T (p.Gln342His)
c.684A>T (p.Gln228His)
n.856A>T
n.368A>T
n.250A>T
c.828A>T (p.Gln276His)
c.-4294966144A>T
c.702A>T (p.Gln234His)
c.630A>T (p.Gln210His)
7g.139961985G>ACA4511842TBXAS1c.886G>A (p.Asp296Asn)
c.*675G>A (n.*675G>A)
c.1024G>A (p.Asp342Asn)
c.889G>A (p.Asp297Asn)
c.1027G>A (p.Asp343Asn)
c.685G>A (p.Asp229Asn)
n.857G>A
n.369G>A
n.251G>A
c.829G>A (p.Asp277Asn)
c.-4294966143G>A
c.703G>A (p.Asp235Asn)
c.631G>A (p.Asp211Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.139961985G>CCA369584258TBXAS1c.886G>C (p.Asp296His)
c.*675G>C (n.*675G>C)
c.1024G>C (p.Asp342His)
c.889G>C (p.Asp297His)
c.1027G>C (p.Asp343His)
c.685G>C (p.Asp229His)
n.857G>C
n.369G>C
n.251G>C
c.829G>C (p.Asp277His)
c.-4294966143G>C
c.703G>C (p.Asp235His)
c.631G>C (p.Asp211His)
7g.139961985G=CA1747341037TBXAS1c.886G= (p.Asp296=)
c.*675G= (n.*675G=)
c.1024G= (p.Asp342=)
c.889G= (p.Asp297=)
c.1027G= (p.Asp343=)
c.685G= (p.Asp229=)
n.857G=
n.369G=
n.251G=
c.829G= (p.Asp277=)
c.-4294966143G=
c.703G= (p.Asp235=)
c.631G= (p.Asp211=)
7g.139961985G>TCA369584261TBXAS1c.886G>T (p.Asp296Tyr)
c.*675G>T (n.*675G>T)
c.1024G>T (p.Asp342Tyr)
c.889G>T (p.Asp297Tyr)
c.1027G>T (p.Asp343Tyr)
c.685G>T (p.Asp229Tyr)
n.857G>T
n.369G>T
n.251G>T
c.829G>T (p.Asp277Tyr)
c.-4294966143G>T
c.703G>T (p.Asp235Tyr)
c.631G>T (p.Asp211Tyr)
7g.139961986A=CA1747341038TBXAS1c.887A= (p.Asp296=)
c.*676A= (n.*676A=)
c.1025A= (p.Asp342=)
c.890A= (p.Asp297=)
c.1028A= (p.Asp343=)
c.686A= (p.Asp229=)
n.858A=
n.370A=
n.252A=
c.830A= (p.Asp277=)
c.-4294966142A=
c.704A= (p.Asp235=)
c.632A= (p.Asp211=)
7g.139961986A>CCA369584265TBXAS1c.887A>C (p.Asp296Ala)
c.*676A>C (n.*676A>C)
c.1025A>C (p.Asp342Ala)
c.890A>C (p.Asp297Ala)
c.1028A>C (p.Asp343Ala)
c.686A>C (p.Asp229Ala)
n.858A>C
n.370A>C
n.252A>C
c.830A>C (p.Asp277Ala)
c.-4294966142A>C
c.704A>C (p.Asp235Ala)
c.632A>C (p.Asp211Ala)
7g.139961986A>GCA369584267TBXAS1c.887A>G (p.Asp296Gly)
c.*676A>G (n.*676A>G)
c.1025A>G (p.Asp342Gly)
c.890A>G (p.Asp297Gly)
c.1028A>G (p.Asp343Gly)
c.686A>G (p.Asp229Gly)
n.858A>G
n.370A>G
n.252A>G
c.830A>G (p.Asp277Gly)
c.-4294966142A>G
c.704A>G (p.Asp235Gly)
c.632A>G (p.Asp211Gly)
 dbSNP
7g.139961986A>TCA369584271TBXAS1c.887A>T (p.Asp296Val)
c.*676A>T (n.*676A>T)
c.1025A>T (p.Asp342Val)
c.890A>T (p.Asp297Val)
c.1028A>T (p.Asp343Val)
c.686A>T (p.Asp229Val)
n.858A>T
n.370A>T
n.252A>T
c.830A>T (p.Asp277Val)
c.-4294966142A>T
c.704A>T (p.Asp235Val)
c.632A>T (p.Asp211Val)
7g.139961987C>ACA369584273TBXAS1c.888C>A (p.Asp296Glu)
c.*677C>A (n.*677C>A)
c.1026C>A (p.Asp342Glu)
c.891C>A (p.Asp297Glu)
c.1029C>A (p.Asp343Glu)
c.687C>A (p.Asp229Glu)
n.859C>A
n.371C>A
n.253C>A
c.831C>A (p.Asp277Glu)
c.-4294966141C>A
c.705C>A (p.Asp235Glu)
c.633C>A (p.Asp211Glu)
7g.139961987C>GCA369584276TBXAS1c.888C>G (p.Asp296Glu)
c.*677C>G (n.*677C>G)
c.1026C>G (p.Asp342Glu)
c.891C>G (p.Asp297Glu)
c.1029C>G (p.Asp343Glu)
c.687C>G (p.Asp229Glu)
n.859C>G
n.371C>G
n.253C>G
c.831C>G (p.Asp277Glu)
c.-4294966141C>G
c.705C>G (p.Asp235Glu)
c.633C>G (p.Asp211Glu)
7g.139961987C>TCA458115377TBXAS1c.888C>T (p.Asp296=)
c.*677C>T (n.*677C>T)
c.1026C>T (p.Asp342=)
c.891C>T (p.Asp297=)
c.1029C>T (p.Asp343=)
c.687C>T (p.Asp229=)
n.859C>T
n.371C>T
n.253C>T
c.831C>T (p.Asp277=)
c.-4294966141C>T
c.705C>T (p.Asp235=)
c.633C>T (p.Asp211=)
7g.139961987_139961988insGCA2579039958TBXAS1c.888_889insG (p.Phe297ValfsTer2)
c.*677_*678insG (n.*677_*678insG)
c.1026_1027insG (p.Phe343ValfsTer2)
c.891_892insG (p.Phe298ValfsTer2)
c.1029_1030insG (p.Phe344ValfsTer2)
c.687_688insG (p.Phe230ValfsTer2)
n.859_860insG
n.371_372insG
n.253_254insG
c.831_832insG (p.Phe278ValfsTer2)
c.-4294966141_-4294966140insG
c.705_706insG (p.Phe236ValfsTer2)
c.633_634insG (p.Phe212ValfsTer2)
7g.139961988T>ACA369584280TBXAS1c.889T>A (p.Phe297Ile)
c.*678T>A (n.*678T>A)
c.1027T>A (p.Phe343Ile)
c.892T>A (p.Phe298Ile)
c.1030T>A (p.Phe344Ile)
c.688T>A (p.Phe230Ile)
n.860T>A
n.372T>A
n.254T>A
c.832T>A (p.Phe278Ile)
c.-4294966140T>A
c.706T>A (p.Phe236Ile)
c.634T>A (p.Phe212Ile)
7g.139961988T>CCA369584283TBXAS1c.889T>C (p.Phe297Leu)
c.*678T>C (n.*678T>C)
c.1027T>C (p.Phe343Leu)
c.892T>C (p.Phe298Leu)
c.1030T>C (p.Phe344Leu)
c.688T>C (p.Phe230Leu)
n.860T>C
n.372T>C
n.254T>C
c.832T>C (p.Phe278Leu)
c.-4294966140T>C
c.706T>C (p.Phe236Leu)
c.634T>C (p.Phe212Leu)
7g.139961988T>GCA369584285TBXAS1c.889T>G (p.Phe297Val)
c.*678T>G (n.*678T>G)
c.1027T>G (p.Phe343Val)
c.892T>G (p.Phe298Val)
c.1030T>G (p.Phe344Val)
c.688T>G (p.Phe230Val)
n.860T>G
n.372T>G
n.254T>G
c.832T>G (p.Phe278Val)
c.-4294966140T>G
c.706T>G (p.Phe236Val)
c.634T>G (p.Phe212Val)
7g.139961989T>ACA369584288TBXAS1c.890T>A (p.Phe297Tyr)
c.*679T>A (n.*679T>A)
c.1028T>A (p.Phe343Tyr)
c.893T>A (p.Phe298Tyr)
c.1031T>A (p.Phe344Tyr)
c.689T>A (p.Phe230Tyr)
n.861T>A
n.373T>A
n.255T>A
c.833T>A (p.Phe278Tyr)
c.-4294966139T>A
c.707T>A (p.Phe236Tyr)
c.635T>A (p.Phe212Tyr)
7g.139961989T>CCA369584293TBXAS1c.890T>C (p.Phe297Ser)
c.*679T>C (n.*679T>C)
c.1028T>C (p.Phe343Ser)
c.893T>C (p.Phe298Ser)
c.1031T>C (p.Phe344Ser)
c.689T>C (p.Phe230Ser)
n.861T>C
n.373T>C
n.255T>C
c.833T>C (p.Phe278Ser)
c.-4294966139T>C
c.707T>C (p.Phe236Ser)
c.635T>C (p.Phe212Ser)
 gnomAD v4
7g.139961989T>GCA369584296TBXAS1c.890T>G (p.Phe297Cys)
c.*679T>G (n.*679T>G)
c.1028T>G (p.Phe343Cys)
c.893T>G (p.Phe298Cys)
c.1031T>G (p.Phe344Cys)
c.689T>G (p.Phe230Cys)
n.861T>G
n.373T>G
n.255T>G
c.833T>G (p.Phe278Cys)
c.-4294966139T>G
c.707T>G (p.Phe236Cys)
c.635T>G (p.Phe212Cys)
7g.139961990T>ACA369584300TBXAS1c.891T>A (p.Phe297Leu)
c.*680T>A (n.*680T>A)
c.1029T>A (p.Phe343Leu)
c.894T>A (p.Phe298Leu)
c.1032T>A (p.Phe344Leu)
c.690T>A (p.Phe230Leu)
n.862T>A
n.374T>A
n.256T>A
c.834T>A (p.Phe278Leu)
c.-4294966138T>A
c.708T>A (p.Phe236Leu)
c.636T>A (p.Phe212Leu)
7g.139961990T>CCA458115379TBXAS1c.891T>C (p.Phe297=)
c.*680T>C (n.*680T>C)
c.1029T>C (p.Phe343=)
c.894T>C (p.Phe298=)
c.1032T>C (p.Phe344=)
c.690T>C (p.Phe230=)
n.862T>C
n.374T>C
n.256T>C
c.834T>C (p.Phe278=)
c.-4294966138T>C
c.708T>C (p.Phe236=)
c.636T>C (p.Phe212=)
7g.139961990T>GCA369584303TBXAS1c.891T>G (p.Phe297Leu)
c.*680T>G (n.*680T>G)
c.1029T>G (p.Phe343Leu)
c.894T>G (p.Phe298Leu)
c.1032T>G (p.Phe344Leu)
c.690T>G (p.Phe230Leu)
n.862T>G
n.374T>G
n.256T>G
c.834T>G (p.Phe278Leu)
c.-4294966138T>G
c.708T>G (p.Phe236Leu)
c.636T>G (p.Phe212Leu)
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.139961991G>ACA369584309TBXAS1c.892G>A (p.Asp298Asn)
c.*681G>A (n.*681G>A)
c.1030G>A (p.Asp344Asn)
c.895G>A (p.Asp299Asn)
c.1033G>A (p.Asp345Asn)
c.691G>A (p.Asp231Asn)
n.863G>A
n.375G>A
n.257G>A
c.835G>A (p.Asp279Asn)
c.-4294966137G>A
c.709G>A (p.Asp237Asn)
c.637G>A (p.Asp213Asn)
7g.139961991G>CCA369584313TBXAS1c.892G>C (p.Asp298His)
c.*681G>C (n.*681G>C)
c.1030G>C (p.Asp344His)
c.895G>C (p.Asp299His)
c.1033G>C (p.Asp345His)
c.691G>C (p.Asp231His)
n.863G>C
n.375G>C
n.257G>C
c.835G>C (p.Asp279His)
c.-4294966137G>C
c.709G>C (p.Asp237His)
c.637G>C (p.Asp213His)
7g.139961991G>TCA369584316TBXAS1c.892G>T (p.Asp298Tyr)
c.*681G>T (n.*681G>T)
c.1030G>T (p.Asp344Tyr)
c.895G>T (p.Asp299Tyr)
c.1033G>T (p.Asp345Tyr)
c.691G>T (p.Asp231Tyr)
n.863G>T
n.375G>T
n.257G>T
c.835G>T (p.Asp279Tyr)
c.-4294966137G>T
c.709G>T (p.Asp237Tyr)
c.637G>T (p.Asp213Tyr)
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=)

Number of alleles fetched