Chr Mutation (hg38) CAid Gene Transcript Linkouts
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.139962038T>ACA458115429TBXAS1c.939T>A (p.Pro313=)
c.*728T>A (n.*728T>A)
c.1077T>A (p.Pro359=)
c.942T>A (p.Pro314=)
c.1080T>A (p.Pro360=)
c.738T>A (p.Pro246=)
n.910T>A
n.422T>A
n.304T>A
c.882T>A (p.Pro294=)
c.-4294966090T>A
c.756T>A (p.Pro252=)
c.684T>A (p.Pro228=)
7g.139962038T>CCA167953444TBXAS1c.939T>C (p.Pro313=)
c.*728T>C (n.*728T>C)
c.1077T>C (p.Pro359=)
c.942T>C (p.Pro314=)
c.1080T>C (p.Pro360=)
c.738T>C (p.Pro246=)
n.910T>C
n.422T>C
n.304T>C
c.882T>C (p.Pro294=)
c.-4294966090T>C
c.756T>C (p.Pro252=)
c.684T>C (p.Pro228=)
 dbSNP gnomAD v3 gnomAD v4
7g.139962038T>GCA458115428TBXAS1c.939T>G (p.Pro313=)
c.*728T>G (n.*728T>G)
c.1077T>G (p.Pro359=)
c.942T>G (p.Pro314=)
c.1080T>G (p.Pro360=)
c.738T>G (p.Pro246=)
n.910T>G
n.422T>G
n.304T>G
c.882T>G (p.Pro294=)
c.-4294966090T>G
c.756T>G (p.Pro252=)
c.684T>G (p.Pro228=)
7g.139962038T=CA1747341065TBXAS1c.939T= (p.Pro313=)
c.*728T= (n.*728T=)
c.1077T= (p.Pro359=)
c.942T= (p.Pro314=)
c.1080T= (p.Pro360=)
c.738T= (p.Pro246=)
n.910T=
n.422T=
n.304T=
c.882T= (p.Pro294=)
c.-4294966090T=
c.756T= (p.Pro252=)
c.684T= (p.Pro228=)
7g.139962039T>ACA369584738TBXAS1c.940T>A (p.Ser314Thr)
c.*729T>A (n.*729T>A)
c.1078T>A (p.Ser360Thr)
c.943T>A (p.Ser315Thr)
c.1081T>A (p.Ser361Thr)
c.739T>A (p.Ser247Thr)
n.911T>A
n.423T>A
n.305T>A
c.883T>A (p.Ser295Thr)
c.-4294966089T>A
c.757T>A (p.Ser253Thr)
c.685T>A (p.Ser229Thr)
7g.139962039T>CCA369584739TBXAS1c.940T>C (p.Ser314Pro)
c.*729T>C (n.*729T>C)
c.1078T>C (p.Ser360Pro)
c.943T>C (p.Ser315Pro)
c.1081T>C (p.Ser361Pro)
c.739T>C (p.Ser247Pro)
n.911T>C
n.423T>C
n.305T>C
c.883T>C (p.Ser295Pro)
c.-4294966089T>C
c.757T>C (p.Ser253Pro)
c.685T>C (p.Ser229Pro)
7g.139962039T>GCA369584742TBXAS1c.940T>G (p.Ser314Ala)
c.*729T>G (n.*729T>G)
c.1078T>G (p.Ser360Ala)
c.943T>G (p.Ser315Ala)
c.1081T>G (p.Ser361Ala)
c.739T>G (p.Ser247Ala)
n.911T>G
n.423T>G
n.305T>G
c.883T>G (p.Ser295Ala)
c.-4294966089T>G
c.757T>G (p.Ser253Ala)
c.685T>G (p.Ser229Ala)
7g.139962039_139962040delinsTCCA1747341066TBXAS1c.940_941delinsTC (p.Ser314=)
c.*729_*730delinsTC (n.*729_*730delinsTC)
c.1078_1079delinsTC (p.Ser360=)
c.943_944delinsTC (p.Ser315=)
c.1081_1082delinsTC (p.Ser361=)
c.739_740delinsTC (p.Ser247=)
n.911_912delinsTC
n.423_424delinsTC
n.305_306delinsTC
c.883_884delinsTC (p.Ser295=)
c.-4294966089_-4294966088delinsTC
c.757_758delinsTC (p.Ser253=)
c.685_686delinsTC (p.Ser229=)
7g.139962040C>ACA369584745TBXAS1c.941C>A (p.Ser314Tyr)
c.*730C>A (n.*730C>A)
c.1079C>A (p.Ser360Tyr)
c.944C>A (p.Ser315Tyr)
c.1082C>A (p.Ser361Tyr)
c.740C>A (p.Ser247Tyr)
n.912C>A
n.424C>A
n.306C>A
c.884C>A (p.Ser295Tyr)
c.-4294966088C>A
c.758C>A (p.Ser253Tyr)
c.686C>A (p.Ser229Tyr)
 dbSNP gnomAD v3 gnomAD v4
7g.139962040C=CA1747341067TBXAS1c.941C= (p.Ser314=)
c.*730C= (n.*730C=)
c.1079C= (p.Ser360=)
c.944C= (p.Ser315=)
c.1082C= (p.Ser361=)
c.740C= (p.Ser247=)
n.912C=
n.424C=
n.306C=
c.884C= (p.Ser295=)
c.-4294966088C=
c.758C= (p.Ser253=)
c.686C= (p.Ser229=)
7g.139962040C>GCA369584748TBXAS1c.941C>G (p.Ser314Cys)
c.*730C>G (n.*730C>G)
c.1079C>G (p.Ser360Cys)
c.944C>G (p.Ser315Cys)
c.1082C>G (p.Ser361Cys)
c.740C>G (p.Ser247Cys)
n.912C>G
n.424C>G
n.306C>G
c.884C>G (p.Ser295Cys)
c.-4294966088C>G
c.758C>G (p.Ser253Cys)
c.686C>G (p.Ser229Cys)
7g.139962040C>TCA369584750TBXAS1c.941C>T (p.Ser314Phe)
c.*730C>T (n.*730C>T)
c.1079C>T (p.Ser360Phe)
c.944C>T (p.Ser315Phe)
c.1082C>T (p.Ser361Phe)
c.740C>T (p.Ser247Phe)
n.912C>T
n.424C>T
n.306C>T
c.884C>T (p.Ser295Phe)
c.-4294966088C>T
c.758C>T (p.Ser253Phe)
c.686C>T (p.Ser229Phe)
 COSMIC COSMIC
7g.139962042delCA167953445TBXAS1c.943del (p.Arg315GlyfsTer12)
c.*732del (n.*732del)
c.1081del (p.Arg361GlyfsTer12)
c.946del (p.Arg316GlyfsTer12)
c.1084del (p.Arg362GlyfsTer12)
c.742del (p.Arg248GlyfsTer12)
n.914del
n.426del
n.308del
c.886del (p.Arg296GlyfsTer12)
c.-4294966086del
c.760del (p.Arg254GlyfsTer12)
c.688del (p.Arg230GlyfsTer12)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.139962041C>ACA458115430TBXAS1c.942C>A (p.Ser314=)
c.*731C>A (n.*731C>A)
c.1080C>A (p.Ser360=)
c.945C>A (p.Ser315=)
c.1083C>A (p.Ser361=)
c.741C>A (p.Ser247=)
n.913C>A
n.425C>A
n.307C>A
c.885C>A (p.Ser295=)
c.-4294966087C>A
c.759C>A (p.Ser253=)
c.687C>A (p.Ser229=)
 gnomAD v4
7g.139962041C>GCA458115431TBXAS1c.942C>G (p.Ser314=)
c.*731C>G (n.*731C>G)
c.1080C>G (p.Ser360=)
c.945C>G (p.Ser315=)
c.1083C>G (p.Ser361=)
c.741C>G (p.Ser247=)
n.913C>G
n.425C>G
n.307C>G
c.885C>G (p.Ser295=)
c.-4294966087C>G
c.759C>G (p.Ser253=)
c.687C>G (p.Ser229=)
7g.139962041C>TCA458115432TBXAS1c.942C>T (p.Ser314=)
c.*731C>T (n.*731C>T)
c.1080C>T (p.Ser360=)
c.945C>T (p.Ser315=)
c.1083C>T (p.Ser361=)
c.741C>T (p.Ser247=)
n.913C>T
n.425C>T
n.307C>T
c.885C>T (p.Ser295=)
c.-4294966087C>T
c.759C>T (p.Ser253=)
c.687C>T (p.Ser229=)
 gnomAD v4
7g.139962042C>ACA458115433TBXAS1c.943C>A (p.Arg315=)
c.*732C>A (n.*732C>A)
c.1081C>A (p.Arg361=)
c.946C>A (p.Arg316=)
c.1084C>A (p.Arg362=)
c.742C>A (p.Arg248=)
n.914C>A
n.426C>A
n.308C>A
c.886C>A (p.Arg296=)
c.-4294966086C>A
c.760C>A (p.Arg254=)
c.688C>A (p.Arg230=)
7g.139962042C=CA1747341068TBXAS1c.943C= (p.Arg315=)
c.*732C= (n.*732C=)
c.1081C= (p.Arg361=)
c.946C= (p.Arg316=)
c.1084C= (p.Arg362=)
c.742C= (p.Arg248=)
n.914C=
n.426C=
n.308C=
c.886C= (p.Arg296=)
c.-4294966086C=
c.760C= (p.Arg254=)
c.688C= (p.Arg230=)
7g.139962042C>GCA369584755TBXAS1c.943C>G (p.Arg315Gly)
c.*732C>G (n.*732C>G)
c.1081C>G (p.Arg361Gly)
c.946C>G (p.Arg316Gly)
c.1084C>G (p.Arg362Gly)
c.742C>G (p.Arg248Gly)
n.914C>G
n.426C>G
n.308C>G
c.886C>G (p.Arg296Gly)
c.-4294966086C>G
c.760C>G (p.Arg254Gly)
c.688C>G (p.Arg230Gly)
7g.139962042C>TCA369584757TBXAS1c.943C>T (p.Arg315Trp)
c.*732C>T (n.*732C>T)
c.1081C>T (p.Arg361Trp)
c.946C>T (p.Arg316Trp)
c.1084C>T (p.Arg362Trp)
c.742C>T (p.Arg248Trp)
n.914C>T
n.426C>T
n.308C>T
c.886C>T (p.Arg296Trp)
c.-4294966086C>T
c.760C>T (p.Arg254Trp)
c.688C>T (p.Arg230Trp)
 dbSNP gnomAD v2 gnomAD v4
7g.139962043G>ACA4511854TBXAS1c.944G>A (p.Arg315Gln)
c.*733G>A (n.*733G>A)
c.1082G>A (p.Arg361Gln)
c.947G>A (p.Arg316Gln)
c.1085G>A (p.Arg362Gln)
c.743G>A (p.Arg248Gln)
n.915G>A
n.427G>A
n.309G>A
c.887G>A (p.Arg296Gln)
c.-4294966085G>A
c.761G>A (p.Arg254Gln)
c.689G>A (p.Arg230Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.139962043G>CCA369584763TBXAS1c.944G>C (p.Arg315Pro)
c.*733G>C (n.*733G>C)
c.1082G>C (p.Arg361Pro)
c.947G>C (p.Arg316Pro)
c.1085G>C (p.Arg362Pro)
c.743G>C (p.Arg248Pro)
n.915G>C
n.427G>C
n.309G>C
c.887G>C (p.Arg296Pro)
c.-4294966085G>C
c.761G>C (p.Arg254Pro)
c.689G>C (p.Arg230Pro)
7g.139962043G=CA1747341069TBXAS1c.944G= (p.Arg315=)
c.*733G= (n.*733G=)
c.1082G= (p.Arg361=)
c.947G= (p.Arg316=)
c.1085G= (p.Arg362=)
c.743G= (p.Arg248=)
n.915G=
n.427G=
n.309G=
c.887G= (p.Arg296=)
c.-4294966085G=
c.761G= (p.Arg254=)
c.689G= (p.Arg230=)
7g.139962043G>TCA369584761TBXAS1c.944G>T (p.Arg315Leu)
c.*733G>T (n.*733G>T)
c.1082G>T (p.Arg361Leu)
c.947G>T (p.Arg316Leu)
c.1085G>T (p.Arg362Leu)
c.743G>T (p.Arg248Leu)
n.915G>T
n.427G>T
n.309G>T
c.887G>T (p.Arg296Leu)
c.-4294966085G>T
c.761G>T (p.Arg254Leu)
c.689G>T (p.Arg230Leu)
7g.139962044G>ACA458115435TBXAS1c.945G>A (p.Arg315=)
c.*734G>A (n.*734G>A)
c.1083G>A (p.Arg361=)
c.948G>A (p.Arg316=)
c.1086G>A (p.Arg362=)
c.744G>A (p.Arg248=)
n.916G>A
n.428G>A
n.310G>A
c.888G>A (p.Arg296=)
c.-4294966084G>A
c.762G>A (p.Arg254=)
c.690G>A (p.Arg230=)
7g.139962044G>CCA458115434TBXAS1c.945G>C (p.Arg315=)
c.*734G>C (n.*734G>C)
c.1083G>C (p.Arg361=)
c.948G>C (p.Arg316=)
c.1086G>C (p.Arg362=)
c.744G>C (p.Arg248=)
n.916G>C
n.428G>C
n.310G>C
c.888G>C (p.Arg296=)
c.-4294966084G>C
c.762G>C (p.Arg254=)
c.690G>C (p.Arg230=)
7g.139962044G>TCA458115436TBXAS1c.945G>T (p.Arg315=)
c.*734G>T (n.*734G>T)
c.1083G>T (p.Arg361=)
c.948G>T (p.Arg316=)
c.1086G>T (p.Arg362=)
c.744G>T (p.Arg248=)
n.916G>T
n.428G>T
n.310G>T
c.888G>T (p.Arg296=)
c.-4294966084G>T
c.762G>T (p.Arg254=)
c.690G>T (p.Arg230=)
7g.139962045C>ACA167953446TBXAS1c.946C>A (p.Gln316Lys)
c.*735C>A (n.*735C>A)
c.1084C>A (p.Gln362Lys)
c.949C>A (p.Gln317Lys)
c.1087C>A (p.Gln363Lys)
c.745C>A (p.Gln249Lys)
n.917C>A
n.429C>A
n.311C>A
c.889C>A (p.Gln297Lys)
c.-4294966083C>A
c.763C>A (p.Gln255Lys)
c.691C>A (p.Gln231Lys)
 dbSNP
7g.139962045C=CA1747341070TBXAS1c.946C= (p.Gln316=)
c.*735C= (n.*735C=)
c.1084C= (p.Gln362=)
c.949C= (p.Gln317=)
c.1087C= (p.Gln363=)
c.745C= (p.Gln249=)
n.917C=
n.429C=
n.311C=
c.889C= (p.Gln297=)
c.-4294966083C=
c.763C= (p.Gln255=)
c.691C= (p.Gln231=)
7g.139962045C>GCA369584769TBXAS1c.946C>G (p.Gln316Glu)
c.*735C>G (n.*735C>G)
c.1084C>G (p.Gln362Glu)
c.949C>G (p.Gln317Glu)
c.1087C>G (p.Gln363Glu)
c.745C>G (p.Gln249Glu)
n.917C>G
n.429C>G
n.311C>G
c.889C>G (p.Gln297Glu)
c.-4294966083C>G
c.763C>G (p.Gln255Glu)
c.691C>G (p.Gln231Glu)
7g.139962045C>TCA369584772TBXAS1c.946C>T (p.Gln316Ter)
c.*735C>T (n.*735C>T)
c.1084C>T (p.Gln362Ter)
c.949C>T (p.Gln317Ter)
c.1087C>T (p.Gln363Ter)
c.745C>T (p.Gln249Ter)
n.917C>T
n.429C>T
n.311C>T
c.889C>T (p.Gln297Ter)
c.-4294966083C>T
c.763C>T (p.Gln255Ter)
c.691C>T (p.Gln231Ter)
 gnomAD v4
7g.139962046A>CCA369584775TBXAS1c.947A>C (p.Gln316Pro)
c.*736A>C (n.*736A>C)
c.1085A>C (p.Gln362Pro)
c.950A>C (p.Gln317Pro)
c.1088A>C (p.Gln363Pro)
c.746A>C (p.Gln249Pro)
n.918A>C
n.430A>C
n.312A>C
c.890A>C (p.Gln297Pro)
c.-4294966082A>C
c.764A>C (p.Gln255Pro)
c.692A>C (p.Gln231Pro)
7g.139962046A>GCA369584776TBXAS1c.947A>G (p.Gln316Arg)
c.*736A>G (n.*736A>G)
c.1085A>G (p.Gln362Arg)
c.950A>G (p.Gln317Arg)
c.1088A>G (p.Gln363Arg)
c.746A>G (p.Gln249Arg)
n.918A>G
n.430A>G
n.312A>G
c.890A>G (p.Gln297Arg)
c.-4294966082A>G
c.764A>G (p.Gln255Arg)
c.692A>G (p.Gln231Arg)
7g.139962046A>TCA369584779TBXAS1c.947A>T (p.Gln316Leu)
c.*736A>T (n.*736A>T)
c.1085A>T (p.Gln362Leu)
c.950A>T (p.Gln317Leu)
c.1088A>T (p.Gln363Leu)
c.746A>T (p.Gln249Leu)
n.918A>T
n.430A>T
n.312A>T
c.890A>T (p.Gln297Leu)
c.-4294966082A>T
c.764A>T (p.Gln255Leu)
c.692A>T (p.Gln231Leu)
7g.139962046_139962048delinsAACCA1747341071TBXAS1c.947_949delinsAAC (p.Gln316=)
c.*736_*738delinsAAC (n.*736_*738delinsAAC)
c.1085_1087delinsAAC (p.Gln362=)
c.950_952delinsAAC (p.Gln317=)
c.1088_1090delinsAAC (p.Gln363=)
c.746_748delinsAAC (p.Gln249=)
n.918_920delinsAAC
n.430_432delinsAAC
n.312_314delinsAAC
c.890_892delinsAAC (p.Gln297=)
c.-4294966082_-4294966080delinsAAC
c.764_766delinsAAC (p.Gln255=)
c.692_694delinsAAC (p.Gln231=)
7g.139962047A>CCA369584781TBXAS1c.948A>C (p.Gln316His)
c.*737A>C (n.*737A>C)
c.1086A>C (p.Gln362His)
c.951A>C (p.Gln317His)
c.1089A>C (p.Gln363His)
c.747A>C (p.Gln249His)
n.919A>C
n.431A>C
n.313A>C
c.891A>C (p.Gln297His)
c.-4294966081A>C
c.765A>C (p.Gln255His)
c.693A>C (p.Gln231His)
7g.139962047A>GCA458115437TBXAS1c.948A>G (p.Gln316=)
c.*737A>G (n.*737A>G)
c.1086A>G (p.Gln362=)
c.951A>G (p.Gln317=)
c.1089A>G (p.Gln363=)
c.747A>G (p.Gln249=)
n.919A>G
n.431A>G
n.313A>G
c.891A>G (p.Gln297=)
c.-4294966081A>G
c.765A>G (p.Gln255=)
c.693A>G (p.Gln231=)
7g.139962047A>TCA369584782TBXAS1c.948A>T (p.Gln316His)
c.*737A>T (n.*737A>T)
c.1086A>T (p.Gln362His)
c.951A>T (p.Gln317His)
c.1089A>T (p.Gln363His)
c.747A>T (p.Gln249His)
n.919A>T
n.431A>T
n.313A>T
c.891A>T (p.Gln297His)
c.-4294966081A>T
c.765A>T (p.Gln255His)
c.693A>T (p.Gln231His)
7g.139962049_139962050delCA4511855TBXAS1c.950_951del (p.His317ProfsTer13)
c.*739_*740del (n.*739_*740del)
c.1088_1089del (p.His363ProfsTer13)
c.953_954del (p.His318ProfsTer13)
c.1091_1092del (p.His364ProfsTer13)
c.749_750del (p.His250ProfsTer13)
n.921_922del
n.433_434del
n.315_316del
c.893_894del (p.His298ProfsTer13)
c.-4294966079_-4294966078del
c.767_768del (p.His256ProfsTer13)
c.695_696del (p.His232ProfsTer13)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.139962048C>ACA369584783TBXAS1c.949C>A (p.His317Asn)
c.*738C>A (n.*738C>A)
c.1087C>A (p.His363Asn)
c.952C>A (p.His318Asn)
c.1090C>A (p.His364Asn)
c.748C>A (p.His250Asn)
n.920C>A
n.432C>A
n.314C>A
c.892C>A (p.His298Asn)
c.-4294966080C>A
c.766C>A (p.His256Asn)
c.694C>A (p.His232Asn)
7g.139962048C=CA1747341072TBXAS1c.949C= (p.His317=)
c.*738C= (n.*738C=)
c.1087C= (p.His363=)
c.952C= (p.His318=)
c.1090C= (p.His364=)
c.748C= (p.His250=)
n.920C=
n.432C=
n.314C=
c.892C= (p.His298=)
c.-4294966080C=
c.766C= (p.His256=)
c.694C= (p.His232=)
7g.139962048C>GCA369584784TBXAS1c.949C>G (p.His317Asp)
c.*738C>G (n.*738C>G)
c.1087C>G (p.His363Asp)
c.952C>G (p.His318Asp)
c.1090C>G (p.His364Asp)
c.748C>G (p.His250Asp)
n.920C>G
n.432C>G
n.314C>G
c.892C>G (p.His298Asp)
c.-4294966080C>G
c.766C>G (p.His256Asp)
c.694C>G (p.His232Asp)
 dbSNP gnomAD v4
7g.139962048C>TCA369584785TBXAS1c.949C>T (p.His317Tyr)
c.*738C>T (n.*738C>T)
c.1087C>T (p.His363Tyr)
c.952C>T (p.His318Tyr)
c.1090C>T (p.His364Tyr)
c.748C>T (p.His250Tyr)
n.920C>T
n.432C>T
n.314C>T
c.892C>T (p.His298Tyr)
c.-4294966080C>T
c.766C>T (p.His256Tyr)
c.694C>T (p.His232Tyr)
 dbSNP
7g.139962049A=CA1747341073TBXAS1c.950A= (p.His317=)
c.*739A= (n.*739A=)
c.1088A= (p.His363=)
c.953A= (p.His318=)
c.1091A= (p.His364=)
c.749A= (p.His250=)
n.921A=
n.433A=
n.315A=
c.893A= (p.His298=)
c.-4294966079A=
c.767A= (p.His256=)
c.695A= (p.His232=)
7g.139962049A>CCA369584787TBXAS1c.950A>C (p.His317Pro)
c.*739A>C (n.*739A>C)
c.1088A>C (p.His363Pro)
c.953A>C (p.His318Pro)
c.1091A>C (p.His364Pro)
c.749A>C (p.His250Pro)
n.921A>C
n.433A>C
n.315A>C
c.893A>C (p.His298Pro)
c.-4294966079A>C
c.767A>C (p.His256Pro)
c.695A>C (p.His232Pro)
7g.139962049A>GCA369584788TBXAS1c.950A>G (p.His317Arg)
c.*739A>G (n.*739A>G)
c.1088A>G (p.His363Arg)
c.953A>G (p.His318Arg)
c.1091A>G (p.His364Arg)
c.749A>G (p.His250Arg)
n.921A>G
n.433A>G
n.315A>G
c.893A>G (p.His298Arg)
c.-4294966079A>G
c.767A>G (p.His256Arg)
c.695A>G (p.His232Arg)
 gnomAD v4
7g.139962049A>TCA369584786TBXAS1c.950A>T (p.His317Leu)
c.*739A>T (n.*739A>T)
c.1088A>T (p.His363Leu)
c.953A>T (p.His318Leu)
c.1091A>T (p.His364Leu)
c.749A>T (p.His250Leu)
n.921A>T
n.433A>T
n.315A>T
c.893A>T (p.His298Leu)
c.-4294966079A>T
c.767A>T (p.His256Leu)
c.695A>T (p.His232Leu)
7g.139962050C>ACA369584789TBXAS1c.951C>A (p.His317Gln)
c.*740C>A (n.*740C>A)
c.1089C>A (p.His363Gln)
c.954C>A (p.His318Gln)
c.1092C>A (p.His364Gln)
c.750C>A (p.His250Gln)
n.922C>A
n.434C>A
n.316C>A
c.894C>A (p.His298Gln)
c.-4294966078C>A
c.768C>A (p.His256Gln)
c.696C>A (p.His232Gln)
7g.139962050C=CA1747341074TBXAS1c.951C= (p.His317=)
c.*740C= (n.*740C=)
c.1089C= (p.His363=)
c.954C= (p.His318=)
c.1092C= (p.His364=)
c.750C= (p.His250=)
n.922C=
n.434C=
n.316C=
c.894C= (p.His298=)
c.-4294966078C=
c.768C= (p.His256=)
c.696C= (p.His232=)
7g.139962050C>GCA369584790TBXAS1c.951C>G (p.His317Gln)
c.*740C>G (n.*740C>G)
c.1089C>G (p.His363Gln)
c.954C>G (p.His318Gln)
c.1092C>G (p.His364Gln)
c.750C>G (p.His250Gln)
n.922C>G
n.434C>G
n.316C>G
c.894C>G (p.His298Gln)
c.-4294966078C>G
c.768C>G (p.His256Gln)
c.696C>G (p.His232Gln)
7g.139962050C>TCA4511857TBXAS1c.951C>T (p.His317=)
c.*740C>T (n.*740C>T)
c.1089C>T (p.His363=)
c.954C>T (p.His318=)
c.1092C>T (p.His364=)
c.750C>T (p.His250=)
n.922C>T
n.434C>T
n.316C>T
c.894C>T (p.His298=)
c.-4294966078C>T
c.768C>T (p.His256=)
c.696C>T (p.His232=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.139962057_139962061dupCA4511856TBXAS1c.958_962dup (p.Met322AlafsTer7)
c.*747_*751dup (n.*747_*751dup)
c.1096_1100dup (p.Met368AlafsTer7)
c.961_965dup (p.Met323AlafsTer7)
c.1099_1103dup (p.Met369AlafsTer7)
c.757_761dup (p.Met255AlafsTer7)
n.929_933dup
n.441_445dup
n.323_327dup
c.901_905dup (p.Met303AlafsTer7)
c.-4294966071_-4294966067dup
c.775_779dup (p.Met261AlafsTer7)
c.703_707dup (p.Met237AlafsTer7)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.139962051C>ACA369584791TBXAS1c.952C>A (p.Gln318Lys)
c.*741C>A (n.*741C>A)
c.1090C>A (p.Gln364Lys)
c.955C>A (p.Gln319Lys)
c.1093C>A (p.Gln365Lys)
c.751C>A (p.Gln251Lys)
n.923C>A
n.435C>A
n.317C>A
c.895C>A (p.Gln299Lys)
c.-4294966077C>A
c.769C>A (p.Gln257Lys)
c.697C>A (p.Gln233Lys)
7g.139962051C=CA1747341075TBXAS1c.952C= (p.Gln318=)
c.*741C= (n.*741C=)
c.1090C= (p.Gln364=)
c.955C= (p.Gln319=)
c.1093C= (p.Gln365=)
c.751C= (p.Gln251=)
n.923C=
n.435C=
n.317C=
c.895C= (p.Gln299=)
c.-4294966077C=
c.769C= (p.Gln257=)
c.697C= (p.Gln233=)
7g.139962051C>GCA4511858TBXAS1c.952C>G (p.Gln318Glu)
c.*741C>G (n.*741C>G)
c.1090C>G (p.Gln364Glu)
c.955C>G (p.Gln319Glu)
c.1093C>G (p.Gln365Glu)
c.751C>G (p.Gln251Glu)
n.923C>G
n.435C>G
n.317C>G
c.895C>G (p.Gln299Glu)
c.-4294966077C>G
c.769C>G (p.Gln257Glu)
c.697C>G (p.Gln233Glu)
 dbSNP ExAC gnomAD v4
7g.139962051C>TCA369584792TBXAS1c.952C>T (p.Gln318Ter)
c.*741C>T (n.*741C>T)
c.1090C>T (p.Gln364Ter)
c.955C>T (p.Gln319Ter)
c.1093C>T (p.Gln365Ter)
c.751C>T (p.Gln251Ter)
n.923C>T
n.435C>T
n.317C>T
c.895C>T (p.Gln299Ter)
c.-4294966077C>T
c.769C>T (p.Gln257Ter)
c.697C>T (p.Gln233Ter)
 dbSNP
7g.139962052A=CA1747341076TBXAS1c.953A= (p.Gln318=)
c.*742A= (n.*742A=)
c.1091A= (p.Gln364=)
c.956A= (p.Gln319=)
c.1094A= (p.Gln365=)
c.752A= (p.Gln251=)
n.924A=
n.436A=
n.318A=
c.896A= (p.Gln299=)
c.-4294966076A=
c.770A= (p.Gln257=)
c.698A= (p.Gln233=)
7g.139962052A>CCA369584793TBXAS1c.953A>C (p.Gln318Pro)
c.*742A>C (n.*742A>C)
c.1091A>C (p.Gln364Pro)
c.956A>C (p.Gln319Pro)
c.1094A>C (p.Gln365Pro)
c.752A>C (p.Gln251Pro)
n.924A>C
n.436A>C
n.318A>C
c.896A>C (p.Gln299Pro)
c.-4294966076A>C
c.770A>C (p.Gln257Pro)
c.698A>C (p.Gln233Pro)
7g.139962052A>GCA369584794TBXAS1c.953A>G (p.Gln318Arg)
c.*742A>G (n.*742A>G)
c.1091A>G (p.Gln364Arg)
c.956A>G (p.Gln319Arg)
c.1094A>G (p.Gln365Arg)
c.752A>G (p.Gln251Arg)
n.924A>G
n.436A>G
n.318A>G
c.896A>G (p.Gln299Arg)
c.-4294966076A>G
c.770A>G (p.Gln257Arg)
c.698A>G (p.Gln233Arg)
7g.139962052A>TCA369584795TBXAS1c.953A>T (p.Gln318Leu)
c.*742A>T (n.*742A>T)
c.1091A>T (p.Gln364Leu)
c.956A>T (p.Gln319Leu)
c.1094A>T (p.Gln365Leu)
c.752A>T (p.Gln251Leu)
n.924A>T
n.436A>T
n.318A>T
c.896A>T (p.Gln299Leu)
c.-4294966076A>T
c.770A>T (p.Gln257Leu)
c.698A>T (p.Gln233Leu)
 dbSNP
7g.139962053G>ACA458115438TBXAS1c.954G>A (p.Gln318=)
c.*743G>A (n.*743G>A)
c.1092G>A (p.Gln364=)
c.957G>A (p.Gln319=)
c.1095G>A (p.Gln365=)
c.753G>A (p.Gln251=)
n.925G>A
n.437G>A
n.319G>A
c.897G>A (p.Gln299=)
c.-4294966075G>A
c.771G>A (p.Gln257=)
c.699G>A (p.Gln233=)
7g.139962053G>CCA369584796TBXAS1c.954G>C (p.Gln318His)
c.*743G>C (n.*743G>C)
c.1092G>C (p.Gln364His)
c.957G>C (p.Gln319His)
c.1095G>C (p.Gln365His)
c.753G>C (p.Gln251His)
n.925G>C
n.437G>C
n.319G>C
c.897G>C (p.Gln299His)
c.-4294966075G>C
c.771G>C (p.Gln257His)
c.699G>C (p.Gln233His)
 gnomAD v4
7g.139962053G>TCA369584797TBXAS1c.954G>T (p.Gln318His)
c.*743G>T (n.*743G>T)
c.1092G>T (p.Gln364His)
c.957G>T (p.Gln319His)
c.1095G>T (p.Gln365His)
c.753G>T (p.Gln251His)
n.925G>T
n.437G>T
n.319G>T
c.897G>T (p.Gln299His)
c.-4294966075G>T
c.771G>T (p.Gln257His)
c.699G>T (p.Gln233His)
 ClinVar dbSNP
7g.139962054C>ACA369584803TBXAS1c.955C>A (p.Pro319Thr)
c.*744C>A (n.*744C>A)
c.1093C>A (p.Pro365Thr)
c.958C>A (p.Pro320Thr)
c.1096C>A (p.Pro366Thr)
c.754C>A (p.Pro252Thr)
n.926C>A
n.438C>A
n.320C>A
c.898C>A (p.Pro300Thr)
c.-4294966074C>A
c.772C>A (p.Pro258Thr)
c.700C>A (p.Pro234Thr)
7g.139962054C>GCA369584798TBXAS1c.955C>G (p.Pro319Ala)
c.*744C>G (n.*744C>G)
c.1093C>G (p.Pro365Ala)
c.958C>G (p.Pro320Ala)
c.1096C>G (p.Pro366Ala)
c.754C>G (p.Pro252Ala)
n.926C>G
n.438C>G
n.320C>G
c.898C>G (p.Pro300Ala)
c.-4294966074C>G
c.772C>G (p.Pro258Ala)
c.700C>G (p.Pro234Ala)
7g.139962054C>TCA369584801TBXAS1c.955C>T (p.Pro319Ser)
c.*744C>T (n.*744C>T)
c.1093C>T (p.Pro365Ser)
c.958C>T (p.Pro320Ser)
c.1096C>T (p.Pro366Ser)
c.754C>T (p.Pro252Ser)
n.926C>T
n.438C>T
n.320C>T
c.898C>T (p.Pro300Ser)
c.-4294966074C>T
c.772C>T (p.Pro258Ser)
c.700C>T (p.Pro234Ser)
 gnomAD v4
7g.139962055C>ACA369584806TBXAS1c.956C>A (p.Pro319His)
c.*745C>A (n.*745C>A)
c.1094C>A (p.Pro365His)
c.959C>A (p.Pro320His)
c.1097C>A (p.Pro366His)
c.755C>A (p.Pro252His)
n.927C>A
n.439C>A
n.321C>A
c.899C>A (p.Pro300His)
c.-4294966073C>A
c.773C>A (p.Pro258His)
c.701C>A (p.Pro234His)
7g.139962055C=CA1747341077TBXAS1c.956C= (p.Pro319=)
c.*745C= (n.*745C=)
c.1094C= (p.Pro365=)
c.959C= (p.Pro320=)
c.1097C= (p.Pro366=)
c.755C= (p.Pro252=)
n.927C=
n.439C=
n.321C=
c.899C= (p.Pro300=)
c.-4294966073C=
c.773C= (p.Pro258=)
c.701C= (p.Pro234=)
7g.139962055C>GCA4511859TBXAS1c.956C>G (p.Pro319Arg)
c.*745C>G (n.*745C>G)
c.1094C>G (p.Pro365Arg)
c.959C>G (p.Pro320Arg)
c.1097C>G (p.Pro366Arg)
c.755C>G (p.Pro252Arg)
n.927C>G
n.439C>G
n.321C>G
c.899C>G (p.Pro300Arg)
c.-4294966073C>G
c.773C>G (p.Pro258Arg)
c.701C>G (p.Pro234Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.139962055C>TCA369584811TBXAS1c.956C>T (p.Pro319Leu)
c.*745C>T (n.*745C>T)
c.1094C>T (p.Pro365Leu)
c.959C>T (p.Pro320Leu)
c.1097C>T (p.Pro366Leu)
c.755C>T (p.Pro252Leu)
n.927C>T
n.439C>T
n.321C>T
c.899C>T (p.Pro300Leu)
c.-4294966073C>T
c.773C>T (p.Pro258Leu)
c.701C>T (p.Pro234Leu)
 COSMIC
7g.139962056C>ACA458115439TBXAS1c.957C>A (p.Pro319=)
c.*746C>A (n.*746C>A)
c.1095C>A (p.Pro365=)
c.960C>A (p.Pro320=)
c.1098C>A (p.Pro366=)
c.756C>A (p.Pro252=)
n.928C>A
n.440C>A
n.322C>A
c.900C>A (p.Pro300=)
c.-4294966072C>A
c.774C>A (p.Pro258=)
c.702C>A (p.Pro234=)
7g.139962056C>GCA458115440TBXAS1c.957C>G (p.Pro319=)
c.*746C>G (n.*746C>G)
c.1095C>G (p.Pro365=)
c.960C>G (p.Pro320=)
c.1098C>G (p.Pro366=)
c.756C>G (p.Pro252=)
n.928C>G
n.440C>G
n.322C>G
c.900C>G (p.Pro300=)
c.-4294966072C>G
c.774C>G (p.Pro258=)
c.702C>G (p.Pro234=)
7g.139962056C>TCA458115441TBXAS1c.957C>T (p.Pro319=)
c.*746C>T (n.*746C>T)
c.1095C>T (p.Pro365=)
c.960C>T (p.Pro320=)
c.1098C>T (p.Pro366=)
c.756C>T (p.Pro252=)
n.928C>T
n.440C>T
n.322C>T
c.900C>T (p.Pro300=)
c.-4294966072C>T
c.774C>T (p.Pro258=)
c.702C>T (p.Pro234=)
7g.139962057A>CCA369584813TBXAS1c.958A>C (p.Ser320Arg)
c.*747A>C (n.*747A>C)
c.1096A>C (p.Ser366Arg)
c.961A>C (p.Ser321Arg)
c.1099A>C (p.Ser367Arg)
c.757A>C (p.Ser253Arg)
n.929A>C
n.441A>C
n.323A>C
c.901A>C (p.Ser301Arg)
c.-4294966071A>C
c.775A>C (p.Ser259Arg)
c.703A>C (p.Ser235Arg)
7g.139962057A>GCA369584815TBXAS1c.958A>G (p.Ser320Gly)
c.*747A>G (n.*747A>G)
c.1096A>G (p.Ser366Gly)
c.961A>G (p.Ser321Gly)
c.1099A>G (p.Ser367Gly)
c.757A>G (p.Ser253Gly)
n.929A>G
n.441A>G
n.323A>G
c.901A>G (p.Ser301Gly)
c.-4294966071A>G
c.775A>G (p.Ser259Gly)
c.703A>G (p.Ser235Gly)
7g.139962057A>TCA369584817TBXAS1c.958A>T (p.Ser320Cys)
c.*747A>T (n.*747A>T)
c.1096A>T (p.Ser366Cys)
c.961A>T (p.Ser321Cys)
c.1099A>T (p.Ser367Cys)
c.757A>T (p.Ser253Cys)
n.929A>T
n.441A>T
n.323A>T
c.901A>T (p.Ser301Cys)
c.-4294966071A>T
c.775A>T (p.Ser259Cys)
c.703A>T (p.Ser235Cys)
7g.139962058G>ACA369584820TBXAS1c.959G>A (p.Ser320Asn)
c.*748G>A (n.*748G>A)
c.1097G>A (p.Ser366Asn)
c.962G>A (p.Ser321Asn)
c.1100G>A (p.Ser367Asn)
c.758G>A (p.Ser253Asn)
n.930G>A
n.442G>A
n.324G>A
c.902G>A (p.Ser301Asn)
c.-4294966070G>A
c.776G>A (p.Ser259Asn)
c.704G>A (p.Ser235Asn)
 gnomAD v4
7g.139962058G>CCA369584822TBXAS1c.959G>C (p.Ser320Thr)
c.*748G>C (n.*748G>C)
c.1097G>C (p.Ser366Thr)
c.962G>C (p.Ser321Thr)
c.1100G>C (p.Ser367Thr)
c.758G>C (p.Ser253Thr)
n.930G>C
n.442G>C
n.324G>C
c.902G>C (p.Ser301Thr)
c.-4294966070G>C
c.776G>C (p.Ser259Thr)
c.704G>C (p.Ser235Thr)
7g.139962058G>TCA369584824TBXAS1c.959G>T (p.Ser320Ile)
c.*748G>T (n.*748G>T)
c.1097G>T (p.Ser366Ile)
c.962G>T (p.Ser321Ile)
c.1100G>T (p.Ser367Ile)
c.758G>T (p.Ser253Ile)
n.930G>T
n.442G>T
n.324G>T
c.902G>T (p.Ser301Ile)
c.-4294966070G>T
c.776G>T (p.Ser259Ile)
c.704G>T (p.Ser235Ile)
7g.139962059C>ACA369584826TBXAS1c.960C>A (p.Ser320Arg)
c.*749C>A (n.*749C>A)
c.1098C>A (p.Ser366Arg)
c.963C>A (p.Ser321Arg)
c.1101C>A (p.Ser367Arg)
c.759C>A (p.Ser253Arg)
n.931C>A
n.443C>A
n.325C>A
c.903C>A (p.Ser301Arg)
c.-4294966069C>A
c.777C>A (p.Ser259Arg)
c.705C>A (p.Ser235Arg)
7g.139962059C>GCA369584829TBXAS1c.960C>G (p.Ser320Arg)
c.*749C>G (n.*749C>G)
c.1098C>G (p.Ser366Arg)
c.963C>G (p.Ser321Arg)
c.1101C>G (p.Ser367Arg)
c.759C>G (p.Ser253Arg)
n.931C>G
n.443C>G
n.325C>G
c.903C>G (p.Ser301Arg)
c.-4294966069C>G
c.777C>G (p.Ser259Arg)
c.705C>G (p.Ser235Arg)
7g.139962059C>TCA458115442TBXAS1c.960C>T (p.Ser320=)
c.*749C>T (n.*749C>T)
c.1098C>T (p.Ser366=)
c.963C>T (p.Ser321=)
c.1101C>T (p.Ser367=)
c.759C>T (p.Ser253=)
n.931C>T
n.443C>T
n.325C>T
c.903C>T (p.Ser301=)
c.-4294966069C>T
c.777C>T (p.Ser259=)
c.705C>T (p.Ser235=)
 COSMIC COSMIC
7g.139962060C>ACA369584834TBXAS1c.961C>A (p.Pro321Thr)
c.*750C>A (n.*750C>A)
c.1099C>A (p.Pro367Thr)
c.964C>A (p.Pro322Thr)
c.1102C>A (p.Pro368Thr)
c.760C>A (p.Pro254Thr)
n.932C>A
n.444C>A
n.326C>A
c.904C>A (p.Pro302Thr)
c.-4294966068C>A
c.778C>A (p.Pro260Thr)
c.706C>A (p.Pro236Thr)
7g.139962060C=CA1747341078TBXAS1c.961C= (p.Pro321=)
c.*750C= (n.*750C=)
c.1099C= (p.Pro367=)
c.964C= (p.Pro322=)
c.1102C= (p.Pro368=)
c.760C= (p.Pro254=)
n.932C=
n.444C=
n.326C=
c.904C= (p.Pro302=)
c.-4294966068C=
c.778C= (p.Pro260=)
c.706C= (p.Pro236=)
7g.139962060C>GCA369584837TBXAS1c.961C>G (p.Pro321Ala)
c.*750C>G (n.*750C>G)
c.1099C>G (p.Pro367Ala)
c.964C>G (p.Pro322Ala)
c.1102C>G (p.Pro368Ala)
c.760C>G (p.Pro254Ala)
n.932C>G
n.444C>G
n.326C>G
c.904C>G (p.Pro302Ala)
c.-4294966068C>G
c.778C>G (p.Pro260Ala)
c.706C>G (p.Pro236Ala)
7g.139962060C>TCA4511860TBXAS1c.961C>T (p.Pro321Ser)
c.*750C>T (n.*750C>T)
c.1099C>T (p.Pro367Ser)
c.964C>T (p.Pro322Ser)
c.1102C>T (p.Pro368Ser)
c.760C>T (p.Pro254Ser)
n.932C>T
n.444C>T
n.326C>T
c.904C>T (p.Pro302Ser)
c.-4294966068C>T
c.778C>T (p.Pro260Ser)
c.706C>T (p.Pro236Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
7g.139962061C>ACA369584845TBXAS1c.962C>A (p.Pro321His)
c.*751C>A (n.*751C>A)
c.1100C>A (p.Pro367His)
c.965C>A (p.Pro322His)
c.1103C>A (p.Pro368His)
c.761C>A (p.Pro254His)
n.933C>A
n.445C>A
n.327C>A
c.905C>A (p.Pro302His)
c.-4294966067C>A
c.779C>A (p.Pro260His)
c.707C>A (p.Pro236His)
7g.139962061C=CA1747341079TBXAS1c.962C= (p.Pro321=)
c.*751C= (n.*751C=)
c.1100C= (p.Pro367=)
c.965C= (p.Pro322=)
c.1103C= (p.Pro368=)
c.761C= (p.Pro254=)
n.933C=
n.445C=
n.327C=
c.905C= (p.Pro302=)
c.-4294966067C=
c.779C= (p.Pro260=)
c.707C= (p.Pro236=)
7g.139962061C>GCA4511861TBXAS1c.962C>G (p.Pro321Arg)
c.*751C>G (n.*751C>G)
c.1100C>G (p.Pro367Arg)
c.965C>G (p.Pro322Arg)
c.1103C>G (p.Pro368Arg)
c.761C>G (p.Pro254Arg)
n.933C>G
n.445C>G
n.327C>G
c.905C>G (p.Pro302Arg)
c.-4294966067C>G
c.779C>G (p.Pro260Arg)
c.707C>G (p.Pro236Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.139962061C>TCA369584843TBXAS1c.962C>T (p.Pro321Leu)
c.*751C>T (n.*751C>T)
c.1100C>T (p.Pro367Leu)
c.965C>T (p.Pro322Leu)
c.1103C>T (p.Pro368Leu)
c.761C>T (p.Pro254Leu)
n.933C>T
n.445C>T
n.327C>T
c.905C>T (p.Pro302Leu)
c.-4294966067C>T
c.779C>T (p.Pro260Leu)
c.707C>T (p.Pro236Leu)
7g.139962062T>ACA458115443TBXAS1c.963T>A (p.Pro321=)
c.*752T>A (n.*752T>A)
c.1101T>A (p.Pro367=)
c.966T>A (p.Pro322=)
c.1104T>A (p.Pro368=)
c.762T>A (p.Pro254=)
n.934T>A
n.446T>A
n.328T>A
c.906T>A (p.Pro302=)
c.-4294966066T>A
c.780T>A (p.Pro260=)
c.708T>A (p.Pro236=)
7g.139962062T>CCA458115444TBXAS1c.963T>C (p.Pro321=)
c.*752T>C (n.*752T>C)
c.1101T>C (p.Pro367=)
c.966T>C (p.Pro322=)
c.1104T>C (p.Pro368=)
c.762T>C (p.Pro254=)
n.934T>C
n.446T>C
n.328T>C
c.906T>C (p.Pro302=)
c.-4294966066T>C
c.780T>C (p.Pro260=)
c.708T>C (p.Pro236=)
 dbSNP
7g.139962062T>GCA458115445TBXAS1c.963T>G (p.Pro321=)
c.*752T>G (n.*752T>G)
c.1101T>G (p.Pro367=)
c.966T>G (p.Pro322=)
c.1104T>G (p.Pro368=)
c.762T>G (p.Pro254=)
n.934T>G
n.446T>G
n.328T>G
c.906T>G (p.Pro302=)
c.-4294966066T>G
c.780T>G (p.Pro260=)
c.708T>G (p.Pro236=)
 COSMIC
7g.139962063A=CA1747341080TBXAS1c.964A= (p.Met322=)
c.*753A= (n.*753A=)
c.1102A= (p.Met368=)
c.967A= (p.Met323=)
c.1105A= (p.Met369=)
c.763A= (p.Met255=)
n.935A=
n.447A=
n.329A=
c.907A= (p.Met303=)
c.-4294966065A=
c.781A= (p.Met261=)
c.709A= (p.Met237=)
7g.139962063A>CCA369584849TBXAS1c.964A>C (p.Met322Leu)
c.*753A>C (n.*753A>C)
c.1102A>C (p.Met368Leu)
c.967A>C (p.Met323Leu)
c.1105A>C (p.Met369Leu)
c.763A>C (p.Met255Leu)
n.935A>C
n.447A>C
n.329A>C
c.907A>C (p.Met303Leu)
c.-4294966065A>C
c.781A>C (p.Met261Leu)
c.709A>C (p.Met237Leu)
7g.139962063A>GCA4511862TBXAS1c.964A>G (p.Met322Val)
c.*753A>G (n.*753A>G)
c.1102A>G (p.Met368Val)
c.967A>G (p.Met323Val)
c.1105A>G (p.Met369Val)
c.763A>G (p.Met255Val)
n.935A>G
n.447A>G
n.329A>G
c.907A>G (p.Met303Val)
c.-4294966065A>G
c.781A>G (p.Met261Val)
c.709A>G (p.Met237Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.139962063A>TCA369584853TBXAS1c.964A>T (p.Met322Leu)
c.*753A>T (n.*753A>T)
c.1102A>T (p.Met368Leu)
c.967A>T (p.Met323Leu)
c.1105A>T (p.Met369Leu)
c.763A>T (p.Met255Leu)
n.935A>T
n.447A>T
n.329A>T
c.907A>T (p.Met303Leu)
c.-4294966065A>T
c.781A>T (p.Met261Leu)
c.709A>T (p.Met237Leu)
7g.139962064T>ACA167953447TBXAS1c.965T>A (p.Met322Lys)
c.*754T>A (n.*754T>A)
c.1103T>A (p.Met368Lys)
c.968T>A (p.Met323Lys)
c.1106T>A (p.Met369Lys)
c.764T>A (p.Met255Lys)
n.936T>A
n.448T>A
n.330T>A
c.908T>A (p.Met303Lys)
c.-4294966064T>A
c.782T>A (p.Met261Lys)
c.710T>A (p.Met237Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.139962064T>CCA4511863TBXAS1c.965T>C (p.Met322Thr)
c.*754T>C (n.*754T>C)
c.1103T>C (p.Met368Thr)
c.968T>C (p.Met323Thr)
c.1106T>C (p.Met369Thr)
c.764T>C (p.Met255Thr)
n.936T>C
n.448T>C
n.330T>C
c.908T>C (p.Met303Thr)
c.-4294966064T>C
c.782T>C (p.Met261Thr)
c.710T>C (p.Met237Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.139962064T>GCA369584859TBXAS1c.965T>G (p.Met322Arg)
c.*754T>G (n.*754T>G)
c.1103T>G (p.Met368Arg)
c.968T>G (p.Met323Arg)
c.1106T>G (p.Met369Arg)
c.764T>G (p.Met255Arg)
n.936T>G
n.448T>G
n.330T>G
c.908T>G (p.Met303Arg)
c.-4294966064T>G
c.782T>G (p.Met261Arg)
c.710T>G (p.Met237Arg)
7g.139962064T=CA1747341081TBXAS1c.965T= (p.Met322=)
c.*754T= (n.*754T=)
c.1103T= (p.Met368=)
c.968T= (p.Met323=)
c.1106T= (p.Met369=)
c.764T= (p.Met255=)
n.936T=
n.448T=
n.330T=
c.908T= (p.Met303=)
c.-4294966064T=
c.782T= (p.Met261=)
c.710T= (p.Met237=)
7g.139962065G>ACA369584863TBXAS1c.966G>A (p.Met322Ile)
c.*755G>A (n.*755G>A)
c.1104G>A (p.Met368Ile)
c.969G>A (p.Met323Ile)
c.1107G>A (p.Met369Ile)
c.765G>A (p.Met255Ile)
n.937G>A
n.449G>A
n.331G>A
c.909G>A (p.Met303Ile)
c.-4294966063G>A
c.783G>A (p.Met261Ile)
c.711G>A (p.Met237Ile)
 gnomAD v4 COSMIC COSMIC
7g.139962065G>CCA369584865TBXAS1c.966G>C (p.Met322Ile)
c.*755G>C (n.*755G>C)
c.1104G>C (p.Met368Ile)
c.969G>C (p.Met323Ile)
c.1107G>C (p.Met369Ile)
c.765G>C (p.Met255Ile)
n.937G>C
n.449G>C
n.331G>C
c.909G>C (p.Met303Ile)
c.-4294966063G>C
c.783G>C (p.Met261Ile)
c.711G>C (p.Met237Ile)
7g.139962065G>TCA369584868TBXAS1c.966G>T (p.Met322Ile)
c.*755G>T (n.*755G>T)
c.1104G>T (p.Met368Ile)
c.969G>T (p.Met323Ile)
c.1107G>T (p.Met369Ile)
c.765G>T (p.Met255Ile)
n.937G>T
n.449G>T
n.331G>T
c.909G>T (p.Met303Ile)
c.-4294966063G>T
c.783G>T (p.Met261Ile)
c.711G>T (p.Met237Ile)
7g.139962066G>ACA369584877TBXAS1c.967G>A (p.Ala323Thr)
c.*756G>A (n.*756G>A)
c.1105G>A (p.Ala369Thr)
c.970G>A (p.Ala324Thr)
c.1108G>A (p.Ala370Thr)
c.766G>A (p.Ala256Thr)
n.938G>A
n.450G>A
n.332G>A
c.910G>A (p.Ala304Thr)
c.-4294966062G>A
c.784G>A (p.Ala262Thr)
c.712G>A (p.Ala238Thr)
7g.139962066G>CCA4511864TBXAS1c.967G>C (p.Ala323Pro)
c.*756G>C (n.*756G>C)
c.1105G>C (p.Ala369Pro)
c.970G>C (p.Ala324Pro)
c.1108G>C (p.Ala370Pro)
c.766G>C (p.Ala256Pro)
n.938G>C
n.450G>C
n.332G>C
c.910G>C (p.Ala304Pro)
c.-4294966062G>C
c.784G>C (p.Ala262Pro)
c.712G>C (p.Ala238Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.139962066G=CA1747341082TBXAS1c.967G= (p.Ala323=)
c.*756G= (n.*756G=)
c.1105G= (p.Ala369=)
c.970G= (p.Ala324=)
c.1108G= (p.Ala370=)
c.766G= (p.Ala256=)
n.938G=
n.450G=
n.332G=
c.910G= (p.Ala304=)
c.-4294966062G=
c.784G= (p.Ala262=)
c.712G= (p.Ala238=)
7g.139962066G>TCA369584872TBXAS1c.967G>T (p.Ala323Ser)
c.*756G>T (n.*756G>T)
c.1105G>T (p.Ala369Ser)
c.970G>T (p.Ala324Ser)
c.1108G>T (p.Ala370Ser)
c.766G>T (p.Ala256Ser)
n.938G>T
n.450G>T
n.332G>T
c.910G>T (p.Ala304Ser)
c.-4294966062G>T
c.784G>T (p.Ala262Ser)
c.712G>T (p.Ala238Ser)
7g.139962067C>ACA369584881TBXAS1c.968C>A (p.Ala323Asp)
c.*757C>A (n.*757C>A)
c.1106C>A (p.Ala369Asp)
c.971C>A (p.Ala324Asp)
c.1109C>A (p.Ala370Asp)
c.767C>A (p.Ala256Asp)
n.939C>A
n.451C>A
n.333C>A
c.911C>A (p.Ala304Asp)
c.-4294966061C>A
c.785C>A (p.Ala262Asp)
c.713C>A (p.Ala238Asp)
7g.139962067C=CA1747341083TBXAS1c.968C= (p.Ala323=)
c.*757C= (n.*757C=)
c.1106C= (p.Ala369=)
c.971C= (p.Ala324=)
c.1109C= (p.Ala370=)
c.767C= (p.Ala256=)
n.939C=
n.451C=
n.333C=
c.911C= (p.Ala304=)
c.-4294966061C=
c.785C= (p.Ala262=)
c.713C= (p.Ala238=)
7g.139962067C>GCA369584883TBXAS1c.968C>G (p.Ala323Gly)
c.*757C>G (n.*757C>G)
c.1106C>G (p.Ala369Gly)
c.971C>G (p.Ala324Gly)
c.1109C>G (p.Ala370Gly)
c.767C>G (p.Ala256Gly)
n.939C>G
n.451C>G
n.333C>G
c.911C>G (p.Ala304Gly)
c.-4294966061C>G
c.785C>G (p.Ala262Gly)
c.713C>G (p.Ala238Gly)
7g.139962067C>TCA369584886TBXAS1c.968C>T (p.Ala323Val)
c.*757C>T (n.*757C>T)
c.1106C>T (p.Ala369Val)
c.971C>T (p.Ala324Val)
c.1109C>T (p.Ala370Val)
c.767C>T (p.Ala256Val)
n.939C>T
n.451C>T
n.333C>T
c.911C>T (p.Ala304Val)
c.-4294966061C>T
c.785C>T (p.Ala262Val)
c.713C>T (p.Ala238Val)
 dbSNP gnomAD v2 gnomAD v4
7g.139962068C>ACA458115446TBXAS1c.969C>A (p.Ala323=)
c.*758C>A (n.*758C>A)
c.1107C>A (p.Ala369=)
c.972C>A (p.Ala324=)
c.1110C>A (p.Ala370=)
c.768C>A (p.Ala256=)
n.940C>A
n.452C>A
n.334C>A
c.912C>A (p.Ala304=)
c.-4294966060C>A
c.786C>A (p.Ala262=)
c.714C>A (p.Ala238=)
7g.139962068C>GCA458115447TBXAS1c.969C>G (p.Ala323=)
c.*758C>G (n.*758C>G)
c.1107C>G (p.Ala369=)
c.972C>G (p.Ala324=)
c.1110C>G (p.Ala370=)
c.768C>G (p.Ala256=)
n.940C>G
n.452C>G
n.334C>G
c.912C>G (p.Ala304=)
c.-4294966060C>G
c.786C>G (p.Ala262=)
c.714C>G (p.Ala238=)
7g.139962068C>TCA458115448TBXAS1c.969C>T (p.Ala323=)
c.*758C>T (n.*758C>T)
c.1107C>T (p.Ala369=)
c.972C>T (p.Ala324=)
c.1110C>T (p.Ala370=)
c.768C>T (p.Ala256=)
n.940C>T
n.452C>T
n.334C>T
c.912C>T (p.Ala304=)
c.-4294966060C>T
c.786C>T (p.Ala262=)
c.714C>T (p.Ala238=)
7g.139962069A>CCA458115449TBXAS1c.970A>C (p.Arg324=)
c.*759A>C (n.*759A>C)
c.1108A>C (p.Arg370=)
c.973A>C (p.Arg325=)
c.1111A>C (p.Arg371=)
c.769A>C (p.Arg257=)
n.941A>C
n.453A>C
n.335A>C
c.913A>C (p.Arg305=)
c.-4294966059A>C
c.787A>C (p.Arg263=)
c.715A>C (p.Arg239=)
7g.139962069A>GCA369584890TBXAS1c.970A>G (p.Arg324Gly)
c.*759A>G (n.*759A>G)
c.1108A>G (p.Arg370Gly)
c.973A>G (p.Arg325Gly)
c.1111A>G (p.Arg371Gly)
c.769A>G (p.Arg257Gly)
n.941A>G
n.453A>G
n.335A>G
c.913A>G (p.Arg305Gly)
c.-4294966059A>G
c.787A>G (p.Arg263Gly)
c.715A>G (p.Arg239Gly)
7g.139962069A>TCA369584892TBXAS1c.970A>T (p.Arg324Trp)
c.*759A>T (n.*759A>T)
c.1108A>T (p.Arg370Trp)
c.973A>T (p.Arg325Trp)
c.1111A>T (p.Arg371Trp)
c.769A>T (p.Arg257Trp)
n.941A>T
n.453A>T
n.335A>T
c.913A>T (p.Arg305Trp)
c.-4294966059A>T
c.787A>T (p.Arg263Trp)
c.715A>T (p.Arg239Trp)
7g.139962070G>ACA369584897TBXAS1c.971G>A (p.Arg324Lys)
c.*760G>A (n.*760G>A)
c.1109G>A (p.Arg370Lys)
c.974G>A (p.Arg325Lys)
c.1112G>A (p.Arg371Lys)
c.770G>A (p.Arg257Lys)
n.942G>A
n.454G>A
n.336G>A
c.914G>A (p.Arg305Lys)
c.-4294966058G>A
c.788G>A (p.Arg263Lys)
c.716G>A (p.Arg239Lys)
 dbSNP gnomAD v4
7g.139962070G>CCA369584899TBXAS1c.971G>C (p.Arg324Thr)
c.*760G>C (n.*760G>C)
c.1109G>C (p.Arg370Thr)
c.974G>C (p.Arg325Thr)
c.1112G>C (p.Arg371Thr)
c.770G>C (p.Arg257Thr)
n.942G>C
n.454G>C
n.336G>C
c.914G>C (p.Arg305Thr)
c.-4294966058G>C
c.788G>C (p.Arg263Thr)
c.716G>C (p.Arg239Thr)
7g.139962070G=CA1747341084TBXAS1c.971G= (p.Arg324=)
c.*760G= (n.*760G=)
c.1109G= (p.Arg370=)
c.974G= (p.Arg325=)
c.1112G= (p.Arg371=)
c.770G= (p.Arg257=)
n.942G=
n.454G=
n.336G=
c.914G= (p.Arg305=)
c.-4294966058G=
c.788G= (p.Arg263=)
c.716G= (p.Arg239=)
7g.139962070G>TCA369584902TBXAS1c.971G>T (p.Arg324Met)
c.*760G>T (n.*760G>T)
c.1109G>T (p.Arg370Met)
c.974G>T (p.Arg325Met)
c.1112G>T (p.Arg371Met)
c.770G>T (p.Arg257Met)
n.942G>T
n.454G>T
n.336G>T
c.914G>T (p.Arg305Met)
c.-4294966058G>T
c.788G>T (p.Arg263Met)
c.716G>T (p.Arg239Met)
7g.139962071G>ACA458115450TBXAS1c.972G>A (p.Arg324=)
c.*761G>A (n.*761G>A)
c.1110G>A (p.Arg370=)
c.975G>A (p.Arg325=)
c.1113G>A (p.Arg371=)
c.771G>A (p.Arg257=)
n.943G>A
n.455G>A
n.337G>A
c.915G>A (p.Arg305=)
c.-4294966057G>A
c.789G>A (p.Arg263=)
c.717G>A (p.Arg239=)
 gnomAD v4
7g.139962071G>CCA369584906TBXAS1c.972G>C (p.Arg324Ser)
c.*761G>C (n.*761G>C)
c.1110G>C (p.Arg370Ser)
c.975G>C (p.Arg325Ser)
c.1113G>C (p.Arg371Ser)
c.771G>C (p.Arg257Ser)
n.943G>C
n.455G>C
n.337G>C
c.915G>C (p.Arg305Ser)
c.-4294966057G>C
c.789G>C (p.Arg263Ser)
c.717G>C (p.Arg239Ser)
7g.139962071G>TCA369584908TBXAS1c.972G>T (p.Arg324Ser)
c.*761G>T (n.*761G>T)
c.1110G>T (p.Arg370Ser)
c.975G>T (p.Arg325Ser)
c.1113G>T (p.Arg371Ser)
c.771G>T (p.Arg257Ser)
n.943G>T
n.455G>T
n.337G>T
c.915G>T (p.Arg305Ser)
c.-4294966057G>T
c.789G>T (p.Arg263Ser)
c.717G>T (p.Arg239Ser)
7g.139962071_139962080delinsGCCTTTGACTCA1747341085TBXAS1c.972_981delinsGCCTTTGACT (p.Arg324=)
c.*761_*770delinsGCCTTTGACT (n.*761_*770delinsGCCTTTGACT)
c.1110_1119delinsGCCTTTGACT (p.Arg370=)
c.975_984delinsGCCTTTGACT (p.Arg325=)
c.1113_1122delinsGCCTTTGACT (p.Arg371=)
c.771_780delinsGCCTTTGACT (p.Arg257=)
n.943_952delinsGCCTTTGACT
n.455_464delinsGCCTTTGACT
n.337_346delinsGCCTTTGACT
c.915_924delinsGCCTTTGACT (p.Arg305=)
c.-4294966057_-4294966048delinsGCCTTTGACT
c.789_798delinsGCCTTTGACT (p.Arg263=)
c.717_726delinsGCCTTTGACT (p.Arg239=)
7g.139962072C>ACA369584911TBXAS1c.973C>A (p.Pro325Thr)
c.*762C>A (n.*762C>A)
c.1111C>A (p.Pro371Thr)
c.976C>A (p.Pro326Thr)
c.1114C>A (p.Pro372Thr)
c.772C>A (p.Pro258Thr)
n.944C>A
n.456C>A
n.338C>A
c.916C>A (p.Pro306Thr)
c.-4294966056C>A
c.790C>A (p.Pro264Thr)
c.718C>A (p.Pro240Thr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.139962072C=CA1747341087TBXAS1c.973C= (p.Pro325=)
c.*762C= (n.*762C=)
c.1111C= (p.Pro371=)
c.976C= (p.Pro326=)
c.1114C= (p.Pro372=)
c.772C= (p.Pro258=)
n.944C=
n.456C=
n.338C=
c.916C= (p.Pro306=)
c.-4294966056C=
c.790C= (p.Pro264=)
c.718C= (p.Pro240=)
7g.139962072C>GCA369584914TBXAS1c.973C>G (p.Pro325Ala)
c.*762C>G (n.*762C>G)
c.1111C>G (p.Pro371Ala)
c.976C>G (p.Pro326Ala)
c.1114C>G (p.Pro372Ala)
c.772C>G (p.Pro258Ala)
n.944C>G
n.456C>G
n.338C>G
c.916C>G (p.Pro306Ala)
c.-4294966056C>G
c.790C>G (p.Pro264Ala)
c.718C>G (p.Pro240Ala)
7g.139962072C>TCA369584916TBXAS1c.973C>T (p.Pro325Ser)
c.*762C>T (n.*762C>T)
c.1111C>T (p.Pro371Ser)
c.976C>T (p.Pro326Ser)
c.1114C>T (p.Pro372Ser)
c.772C>T (p.Pro258Ser)
n.944C>T
n.456C>T
n.338C>T
c.916C>T (p.Pro306Ser)
c.-4294966056C>T
c.790C>T (p.Pro264Ser)
c.718C>T (p.Pro240Ser)
7g.139962072_139962080delCA1747341086TBXAS1c.973_981del (p.Pro325_Thr327del)
c.*762_*770del (n.*762_*770del)
c.1111_1119del (p.Pro371_Thr373del)
c.976_984del (p.Pro326_Thr328del)
c.1114_1122del (p.Pro372_Thr374del)
c.772_780del (p.Pro258_Thr260del)
n.944_952del
n.456_464del
n.338_346del
c.916_924del (p.Pro306_Thr308del)
c.-4294966056_-4294966048del
c.790_798del (p.Pro264_Thr266del)
c.718_726del (p.Pro240_Thr242del)
 dbSNP gnomAD v4
7g.139962073C>ACA369584922TBXAS1c.974C>A (p.Pro325His)
c.*763C>A (n.*763C>A)
c.1112C>A (p.Pro371His)
c.977C>A (p.Pro326His)
c.1115C>A (p.Pro372His)
c.773C>A (p.Pro258His)
n.945C>A
n.457C>A
n.339C>A
c.917C>A (p.Pro306His)
c.-4294966055C>A
c.791C>A (p.Pro264His)
c.719C>A (p.Pro240His)
 gnomAD v4
7g.139962073C>GCA369584924TBXAS1c.974C>G (p.Pro325Arg)
c.*763C>G (n.*763C>G)
c.1112C>G (p.Pro371Arg)
c.977C>G (p.Pro326Arg)
c.1115C>G (p.Pro372Arg)
c.773C>G (p.Pro258Arg)
n.945C>G
n.457C>G
n.339C>G
c.917C>G (p.Pro306Arg)
c.-4294966055C>G
c.791C>G (p.Pro264Arg)
c.719C>G (p.Pro240Arg)
 dbSNP gnomAD v3 gnomAD v4
7g.139962073C>TCA369584920TBXAS1c.974C>T (p.Pro325Leu)
c.*763C>T (n.*763C>T)
c.1112C>T (p.Pro371Leu)
c.977C>T (p.Pro326Leu)
c.1115C>T (p.Pro372Leu)
c.773C>T (p.Pro258Leu)
n.945C>T
n.457C>T
n.339C>T
c.917C>T (p.Pro306Leu)
c.-4294966055C>T
c.791C>T (p.Pro264Leu)
c.719C>T (p.Pro240Leu)
7g.139962074T>ACA458115451TBXAS1c.975T>A (p.Pro325=)
c.*764T>A (n.*764T>A)
c.1113T>A (p.Pro371=)
c.978T>A (p.Pro326=)
c.1116T>A (p.Pro372=)
c.774T>A (p.Pro258=)
n.946T>A
n.458T>A
n.340T>A
c.918T>A (p.Pro306=)
c.-4294966054T>A
c.792T>A (p.Pro264=)
c.720T>A (p.Pro240=)
7g.139962074T>CCA458115452TBXAS1c.975T>C (p.Pro325=)
c.*764T>C (n.*764T>C)
c.1113T>C (p.Pro371=)
c.978T>C (p.Pro326=)
c.1116T>C (p.Pro372=)
c.774T>C (p.Pro258=)
n.946T>C
n.458T>C
n.340T>C
c.918T>C (p.Pro306=)
c.-4294966054T>C
c.792T>C (p.Pro264=)
c.720T>C (p.Pro240=)
7g.139962074T>GCA458115453TBXAS1c.975T>G (p.Pro325=)
c.*764T>G (n.*764T>G)
c.1113T>G (p.Pro371=)
c.978T>G (p.Pro326=)
c.1116T>G (p.Pro372=)
c.774T>G (p.Pro258=)
n.946T>G
n.458T>G
n.340T>G
c.918T>G (p.Pro306=)
c.-4294966054T>G
c.792T>G (p.Pro264=)
c.720T>G (p.Pro240=)
7g.139962075T>ACA369584926TBXAS1c.976T>A (p.Leu326Met)
c.*765T>A (n.*765T>A)
c.1114T>A (p.Leu372Met)
c.979T>A (p.Leu327Met)
c.1117T>A (p.Leu373Met)
c.775T>A (p.Leu259Met)
n.947T>A
n.459T>A
n.341T>A
c.919T>A (p.Leu307Met)
c.-4294966053T>A
c.793T>A (p.Leu265Met)
c.721T>A (p.Leu241Met)
7g.139962075T>CCA458115454TBXAS1c.976T>C (p.Leu326=)
c.*765T>C (n.*765T>C)
c.1114T>C (p.Leu372=)
c.979T>C (p.Leu327=)
c.1117T>C (p.Leu373=)
c.775T>C (p.Leu259=)
n.947T>C
n.459T>C
n.341T>C
c.919T>C (p.Leu307=)
c.-4294966053T>C
c.793T>C (p.Leu265=)
c.721T>C (p.Leu241=)
 gnomAD v4
7g.139962075T>GCA369584929TBXAS1c.976T>G (p.Leu326Val)
c.*765T>G (n.*765T>G)
c.1114T>G (p.Leu372Val)
c.979T>G (p.Leu327Val)
c.1117T>G (p.Leu373Val)
c.775T>G (p.Leu259Val)
n.947T>G
n.459T>G
n.341T>G
c.919T>G (p.Leu307Val)
c.-4294966053T>G
c.793T>G (p.Leu265Val)
c.721T>G (p.Leu241Val)
7g.139962076T>ACA369584933TBXAS1c.977T>A (p.Leu326Ter)
c.*766T>A (n.*766T>A)
c.1115T>A (p.Leu372Ter)
c.980T>A (p.Leu327Ter)
c.1118T>A (p.Leu373Ter)
c.776T>A (p.Leu259Ter)
n.948T>A
n.460T>A
n.342T>A
c.920T>A (p.Leu307Ter)
c.-4294966052T>A
c.794T>A (p.Leu265Ter)
c.722T>A (p.Leu241Ter)
7g.139962076T>CCA369584935TBXAS1c.977T>C (p.Leu326Ser)
c.*766T>C (n.*766T>C)
c.1115T>C (p.Leu372Ser)
c.980T>C (p.Leu327Ser)
c.1118T>C (p.Leu373Ser)
c.776T>C (p.Leu259Ser)
n.948T>C
n.460T>C
n.342T>C
c.920T>C (p.Leu307Ser)
c.-4294966052T>C
c.794T>C (p.Leu265Ser)
c.722T>C (p.Leu241Ser)
7g.139962076T>GCA369584938TBXAS1c.977T>G (p.Leu326Trp)
c.*766T>G (n.*766T>G)
c.1115T>G (p.Leu372Trp)
c.980T>G (p.Leu327Trp)
c.1118T>G (p.Leu373Trp)
c.776T>G (p.Leu259Trp)
n.948T>G
n.460T>G
n.342T>G
c.920T>G (p.Leu307Trp)
c.-4294966052T>G
c.794T>G (p.Leu265Trp)
c.722T>G (p.Leu241Trp)
7g.139962078_139962081delCA2685190568TBXAS1c.979_982del (p.Thr327TrpfsTer?)
c.*768_*771del (n.*768_*771del)
c.1117_1120del (p.Thr373TrpfsTer?)
c.982_985del (p.Thr328TrpfsTer?)
c.1120_1123del (p.Thr374TrpfsTer?)
c.778_781del (p.Thr260TrpfsTer?)
n.950_953del
n.462_465del
n.344_347del
c.922_925del (p.Thr308TrpfsTer?)
c.-4294966050_-4294966047del
c.796_799del (p.Thr266TrpfsTer?)
c.724_727del (p.Thr242TrpfsTer?)
 gnomAD v4
7g.139962076_139962088delinsTGACTGTGGATGACA1747341088TBXAS1c.977_989delinsTGACTGTGGATGA (p.Leu326=)
c.*766_*778delinsTGACTGTGGATGA (n.*766_*778delinsTGACTGTGGATGA)
c.1115_1127delinsTGACTGTGGATGA (p.Leu372=)
c.980_992delinsTGACTGTGGATGA (p.Leu327=)
c.1118_1130delinsTGACTGTGGATGA (p.Leu373=)
c.776_788delinsTGACTGTGGATGA (p.Leu259=)
n.948_960delinsTGACTGTGGATGA
n.460_472delinsTGACTGTGGATGA
n.342_354delinsTGACTGTGGATGA
c.920_932delinsTGACTGTGGATGA (p.Leu307=)
c.-4294966052_-4294966040delinsTGACTGTGGATGA
c.794_806delinsTGACTGTGGATGA (p.Leu265=)
c.722_734delinsTGACTGTGGATGA (p.Leu241=)
7g.139962077G>ACA4511865TBXAS1c.978G>A (p.Leu326=)
c.*767G>A (n.*767G>A)
c.1116G>A (p.Leu372=)
c.981G>A (p.Leu327=)
c.1119G>A (p.Leu373=)
c.777G>A (p.Leu259=)
n.949G>A
n.461G>A
n.343G>A
c.921G>A (p.Leu307=)
c.-4294966051G>A
c.795G>A (p.Leu265=)
c.723G>A (p.Leu241=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.139962077G>CCA369584942TBXAS1c.978G>C (p.Leu326Phe)
c.*767G>C (n.*767G>C)
c.1116G>C (p.Leu372Phe)
c.981G>C (p.Leu327Phe)
c.1119G>C (p.Leu373Phe)
c.777G>C (p.Leu259Phe)
n.949G>C
n.461G>C
n.343G>C
c.921G>C (p.Leu307Phe)
c.-4294966051G>C
c.795G>C (p.Leu265Phe)
c.723G>C (p.Leu241Phe)
7g.139962077G=CA1747341089TBXAS1c.978G= (p.Leu326=)
c.*767G= (n.*767G=)
c.1116G= (p.Leu372=)
c.981G= (p.Leu327=)
c.1119G= (p.Leu373=)
c.777G= (p.Leu259=)
n.949G=
n.461G=
n.343G=
c.921G= (p.Leu307=)
c.-4294966051G=
c.795G= (p.Leu265=)
c.723G= (p.Leu241=)
7g.139962077G>TCA369584943TBXAS1c.978G>T (p.Leu326Phe)
c.*767G>T (n.*767G>T)
c.1116G>T (p.Leu372Phe)
c.981G>T (p.Leu327Phe)
c.1119G>T (p.Leu373Phe)
c.777G>T (p.Leu259Phe)
n.949G>T
n.461G>T
n.343G>T
c.921G>T (p.Leu307Phe)
c.-4294966051G>T
c.795G>T (p.Leu265Phe)
c.723G>T (p.Leu241Phe)
7g.139962079_139962090delCA578624652TBXAS1c.980_991del (p.Thr327_Glu330del)
c.*769_*780del (n.*769_*780del)
c.1118_1129del (p.Thr373_Glu376del)
c.983_994del (p.Thr328_Glu331del)
c.1121_1132del (p.Thr374_Glu377del)
c.779_790del (p.Thr260_Glu263del)
n.951_962del
n.463_474del
n.345_356del
c.923_934del (p.Thr308_Glu311del)
c.-4294966049_-4294966038del
c.797_808del (p.Thr266_Glu269del)
c.725_736del (p.Thr242_Glu245del)
 dbSNP gnomAD v2 gnomAD v4
7g.139962078A>CCA369584946TBXAS1c.979A>C (p.Thr327Pro)
c.*768A>C (n.*768A>C)
c.1117A>C (p.Thr373Pro)
c.982A>C (p.Thr328Pro)
c.1120A>C (p.Thr374Pro)
c.778A>C (p.Thr260Pro)
n.950A>C
n.462A>C
n.344A>C
c.922A>C (p.Thr308Pro)
c.-4294966050A>C
c.796A>C (p.Thr266Pro)
c.724A>C (p.Thr242Pro)
7g.139962078A>GCA369584949TBXAS1c.979A>G (p.Thr327Ala)
c.*768A>G (n.*768A>G)
c.1117A>G (p.Thr373Ala)
c.982A>G (p.Thr328Ala)
c.1120A>G (p.Thr374Ala)
c.778A>G (p.Thr260Ala)
n.950A>G
n.462A>G
n.344A>G
c.922A>G (p.Thr308Ala)
c.-4294966050A>G
c.796A>G (p.Thr266Ala)
c.724A>G (p.Thr242Ala)
7g.139962078A>TCA369584951TBXAS1c.979A>T (p.Thr327Ser)
c.*768A>T (n.*768A>T)
c.1117A>T (p.Thr373Ser)
c.982A>T (p.Thr328Ser)
c.1120A>T (p.Thr374Ser)
c.778A>T (p.Thr260Ser)
n.950A>T
n.462A>T
n.344A>T
c.922A>T (p.Thr308Ser)
c.-4294966050A>T
c.796A>T (p.Thr266Ser)
c.724A>T (p.Thr242Ser)
7g.139962079C>ACA369584955TBXAS1c.980C>A (p.Thr327Asn)
c.*769C>A (n.*769C>A)
c.1118C>A (p.Thr373Asn)
c.983C>A (p.Thr328Asn)
c.1121C>A (p.Thr374Asn)
c.779C>A (p.Thr260Asn)
n.951C>A
n.463C>A
n.345C>A
c.923C>A (p.Thr308Asn)
c.-4294966049C>A
c.797C>A (p.Thr266Asn)
c.725C>A (p.Thr242Asn)
7g.139962079C>GCA369584957TBXAS1c.980C>G (p.Thr327Ser)
c.*769C>G (n.*769C>G)
c.1118C>G (p.Thr373Ser)
c.983C>G (p.Thr328Ser)
c.1121C>G (p.Thr374Ser)
c.779C>G (p.Thr260Ser)
n.951C>G
n.463C>G
n.345C>G
c.923C>G (p.Thr308Ser)
c.-4294966049C>G
c.797C>G (p.Thr266Ser)
c.725C>G (p.Thr242Ser)
7g.139962079C>TCA369584959TBXAS1c.980C>T (p.Thr327Ile)
c.*769C>T (n.*769C>T)
c.1118C>T (p.Thr373Ile)
c.983C>T (p.Thr328Ile)
c.1121C>T (p.Thr374Ile)
c.779C>T (p.Thr260Ile)
n.951C>T
n.463C>T
n.345C>T
c.923C>T (p.Thr308Ile)
c.-4294966049C>T
c.797C>T (p.Thr266Ile)
c.725C>T (p.Thr242Ile)
 gnomAD v4
7g.139962080T>ACA458115457TBXAS1c.981T>A (p.Thr327=)
c.*770T>A (n.*770T>A)
c.1119T>A (p.Thr373=)
c.984T>A (p.Thr328=)
c.1122T>A (p.Thr374=)
c.780T>A (p.Thr260=)
n.952T>A
n.464T>A
n.346T>A
c.924T>A (p.Thr308=)
c.-4294966048T>A
c.798T>A (p.Thr266=)
c.726T>A (p.Thr242=)
 gnomAD v4
7g.139962080T>CCA458115456TBXAS1c.981T>C (p.Thr327=)
c.*770T>C (n.*770T>C)
c.1119T>C (p.Thr373=)
c.984T>C (p.Thr328=)
c.1122T>C (p.Thr374=)
c.780T>C (p.Thr260=)
n.952T>C
n.464T>C
n.346T>C
c.924T>C (p.Thr308=)
c.-4294966048T>C
c.798T>C (p.Thr266=)
c.726T>C (p.Thr242=)
7g.139962080T>GCA458115455TBXAS1c.981T>G (p.Thr327=)
c.*770T>G (n.*770T>G)
c.1119T>G (p.Thr373=)
c.984T>G (p.Thr328=)
c.1122T>G (p.Thr374=)
c.780T>G (p.Thr260=)
n.952T>G
n.464T>G
n.346T>G
c.924T>G (p.Thr308=)
c.-4294966048T>G
c.798T>G (p.Thr266=)
c.726T>G (p.Thr242=)
7g.139962081G>ACA369584968TBXAS1c.982G>A (p.Val328Met)
c.*771G>A (n.*771G>A)
c.1120G>A (p.Val374Met)
c.985G>A (p.Val329Met)
c.1123G>A (p.Val375Met)
c.781G>A (p.Val261Met)
n.953G>A
n.465G>A
n.347G>A
c.925G>A (p.Val309Met)
c.-4294966047G>A
c.799G>A (p.Val267Met)
c.727G>A (p.Val243Met)
 gnomAD v4
7g.139962081G>CCA369584965TBXAS1c.982G>C (p.Val328Leu)
c.*771G>C (n.*771G>C)
c.1120G>C (p.Val374Leu)
c.985G>C (p.Val329Leu)
c.1123G>C (p.Val375Leu)
c.781G>C (p.Val261Leu)
n.953G>C
n.465G>C
n.347G>C
c.925G>C (p.Val309Leu)
c.-4294966047G>C
c.799G>C (p.Val267Leu)
c.727G>C (p.Val243Leu)
7g.139962081G>TCA369584963TBXAS1c.982G>T (p.Val328Leu)
c.*771G>T (n.*771G>T)
c.1120G>T (p.Val374Leu)
c.985G>T (p.Val329Leu)
c.1123G>T (p.Val375Leu)
c.781G>T (p.Val261Leu)
n.953G>T
n.465G>T
n.347G>T
c.925G>T (p.Val309Leu)
c.-4294966047G>T
c.799G>T (p.Val267Leu)
c.727G>T (p.Val243Leu)
7g.139962082T>ACA369584972TBXAS1c.983T>A (p.Val328Glu)
c.*772T>A (n.*772T>A)
c.1121T>A (p.Val374Glu)
c.986T>A (p.Val329Glu)
c.1124T>A (p.Val375Glu)
c.782T>A (p.Val261Glu)
n.954T>A
n.466T>A
n.348T>A
c.926T>A (p.Val309Glu)
c.-4294966046T>A
c.800T>A (p.Val267Glu)
c.728T>A (p.Val243Glu)
7g.139962082T>CCA369584974TBXAS1c.983T>C (p.Val328Ala)
c.*772T>C (n.*772T>C)
c.1121T>C (p.Val374Ala)
c.986T>C (p.Val329Ala)
c.1124T>C (p.Val375Ala)
c.782T>C (p.Val261Ala)
n.954T>C
n.466T>C
n.348T>C
c.926T>C (p.Val309Ala)
c.-4294966046T>C
c.800T>C (p.Val267Ala)
c.728T>C (p.Val243Ala)
7g.139962082T>GCA369584976TBXAS1c.983T>G (p.Val328Gly)
c.*772T>G (n.*772T>G)
c.1121T>G (p.Val374Gly)
c.986T>G (p.Val329Gly)
c.1124T>G (p.Val375Gly)
c.782T>G (p.Val261Gly)
n.954T>G
n.466T>G
n.348T>G
c.926T>G (p.Val309Gly)
c.-4294966046T>G
c.800T>G (p.Val267Gly)
c.728T>G (p.Val243Gly)
7g.139962083G>ACA458115458TBXAS1c.984G>A (p.Val328=)
c.*773G>A (n.*773G>A)
c.1122G>A (p.Val374=)
c.987G>A (p.Val329=)
c.1125G>A (p.Val375=)
c.783G>A (p.Val261=)
n.955G>A
n.467G>A
n.349G>A
c.927G>A (p.Val309=)
c.-4294966045G>A
c.801G>A (p.Val267=)
c.729G>A (p.Val243=)
 gnomAD v4
7g.139962083G>CCA458115459TBXAS1c.984G>C (p.Val328=)
c.*773G>C (n.*773G>C)
c.1122G>C (p.Val374=)
c.987G>C (p.Val329=)
c.1125G>C (p.Val375=)
c.783G>C (p.Val261=)
n.955G>C
n.467G>C
n.349G>C
c.927G>C (p.Val309=)
c.-4294966045G>C
c.801G>C (p.Val267=)
c.729G>C (p.Val243=)
7g.139962083G=CA1747341090TBXAS1c.984G= (p.Val328=)
c.*773G= (n.*773G=)
c.1122G= (p.Val374=)
c.987G= (p.Val329=)
c.1125G= (p.Val375=)
c.783G= (p.Val261=)
n.955G=
n.467G=
n.349G=
c.927G= (p.Val309=)
c.-4294966045G=
c.801G= (p.Val267=)
c.729G= (p.Val243=)
7g.139962083G>TCA458115460TBXAS1c.984G>T (p.Val328=)
c.*773G>T (n.*773G>T)
c.1122G>T (p.Val374=)
c.987G>T (p.Val329=)
c.1125G>T (p.Val375=)
c.783G>T (p.Val261=)
n.955G>T
n.467G>T
n.349G>T
c.927G>T (p.Val309=)
c.-4294966045G>T
c.801G>T (p.Val267=)
c.729G>T (p.Val243=)
7g.139962083_139962084insACA1747341091TBXAS1c.984_985insA (p.Asp329ArgfsTer2)
c.*773_*774insA (n.*773_*774insA)
c.1122_1123insA (p.Asp375ArgfsTer2)
c.987_988insA (p.Asp330ArgfsTer2)
c.1125_1126insA (p.Asp376ArgfsTer2)
c.783_784insA (p.Asp262ArgfsTer2)
n.955_956insA
n.467_468insA
n.349_350insA
c.927_928insA (p.Asp310ArgfsTer2)
c.-4294966045_-4294966044insA
c.801_802insA (p.Asp268ArgfsTer2)
c.729_730insA (p.Asp244ArgfsTer2)
 dbSNP gnomAD v4
7g.139962084G>ACA369584978TBXAS1c.985G>A (p.Asp329Asn)
c.*774G>A (n.*774G>A)
c.1123G>A (p.Asp375Asn)
c.988G>A (p.Asp330Asn)
c.1126G>A (p.Asp376Asn)
c.784G>A (p.Asp262Asn)
n.956G>A
n.468G>A
n.350G>A
c.928G>A (p.Asp310Asn)
c.-4294966044G>A
c.802G>A (p.Asp268Asn)
c.730G>A (p.Asp244Asn)
7g.139962084G>CCA369584981TBXAS1c.985G>C (p.Asp329His)
c.*774G>C (n.*774G>C)
c.1123G>C (p.Asp375His)
c.988G>C (p.Asp330His)
c.1126G>C (p.Asp376His)
c.784G>C (p.Asp262His)
n.956G>C
n.468G>C
n.350G>C
c.928G>C (p.Asp310His)
c.-4294966044G>C
c.802G>C (p.Asp268His)
c.730G>C (p.Asp244His)
7g.139962084G>TCA369584984TBXAS1c.985G>T (p.Asp329Tyr)
c.*774G>T (n.*774G>T)
c.1123G>T (p.Asp375Tyr)
c.988G>T (p.Asp330Tyr)
c.1126G>T (p.Asp376Tyr)
c.784G>T (p.Asp262Tyr)
n.956G>T
n.468G>T
n.350G>T
c.928G>T (p.Asp310Tyr)
c.-4294966044G>T
c.802G>T (p.Asp268Tyr)
c.730G>T (p.Asp244Tyr)
7g.139962085A>CCA369584988TBXAS1c.986A>C (p.Asp329Ala)
c.*775A>C (n.*775A>C)
c.1124A>C (p.Asp375Ala)
c.989A>C (p.Asp330Ala)
c.1127A>C (p.Asp376Ala)
c.785A>C (p.Asp262Ala)
n.957A>C
n.469A>C
n.351A>C
c.929A>C (p.Asp310Ala)
c.-4294966043A>C
c.803A>C (p.Asp268Ala)
c.731A>C (p.Asp244Ala)
7g.139962085A>GCA369584990TBXAS1c.986A>G (p.Asp329Gly)
c.*775A>G (n.*775A>G)
c.1124A>G (p.Asp375Gly)
c.989A>G (p.Asp330Gly)
c.1127A>G (p.Asp376Gly)
c.785A>G (p.Asp262Gly)
n.957A>G
n.469A>G
n.351A>G
c.929A>G (p.Asp310Gly)
c.-4294966043A>G
c.803A>G (p.Asp268Gly)
c.731A>G (p.Asp244Gly)
7g.139962085A>TCA369584993TBXAS1c.986A>T (p.Asp329Val)
c.*775A>T (n.*775A>T)
c.1124A>T (p.Asp375Val)
c.989A>T (p.Asp330Val)
c.1127A>T (p.Asp376Val)
c.785A>T (p.Asp262Val)
n.957A>T
n.469A>T
n.351A>T
c.929A>T (p.Asp310Val)
c.-4294966043A>T
c.803A>T (p.Asp268Val)
c.731A>T (p.Asp244Val)
 gnomAD v4
7g.139962086T>ACA369584996TBXAS1c.987T>A (p.Asp329Glu)
c.*776T>A (n.*776T>A)
c.1125T>A (p.Asp375Glu)
c.990T>A (p.Asp330Glu)
c.1128T>A (p.Asp376Glu)
c.786T>A (p.Asp262Glu)
n.958T>A
n.470T>A
n.352T>A
c.930T>A (p.Asp310Glu)
c.-4294966042T>A
c.804T>A (p.Asp268Glu)
c.732T>A (p.Asp244Glu)
7g.139962086T>CCA458115461TBXAS1c.987T>C (p.Asp329=)
c.*776T>C (n.*776T>C)
c.1125T>C (p.Asp375=)
c.990T>C (p.Asp330=)
c.1128T>C (p.Asp376=)
c.786T>C (p.Asp262=)
n.958T>C
n.470T>C
n.352T>C
c.930T>C (p.Asp310=)
c.-4294966042T>C
c.804T>C (p.Asp268=)
c.732T>C (p.Asp244=)
7g.139962086T>GCA369584998TBXAS1c.987T>G (p.Asp329Glu)
c.*776T>G (n.*776T>G)
c.1125T>G (p.Asp375Glu)
c.990T>G (p.Asp330Glu)
c.1128T>G (p.Asp376Glu)
c.786T>G (p.Asp262Glu)
n.958T>G
n.470T>G
n.352T>G
c.930T>G (p.Asp310Glu)
c.-4294966042T>G
c.804T>G (p.Asp268Glu)
c.732T>G (p.Asp244Glu)
 gnomAD v4
7g.139962087G>ACA369585001TBXAS1c.988G>A (p.Glu330Lys)
c.*777G>A (n.*777G>A)
c.1126G>A (p.Glu376Lys)
c.991G>A (p.Glu331Lys)
c.1129G>A (p.Glu377Lys)
c.787G>A (p.Glu263Lys)
n.959G>A
n.471G>A
n.353G>A
c.931G>A (p.Glu311Lys)
c.-4294966041G>A
c.805G>A (p.Glu269Lys)
c.733G>A (p.Glu245Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
7g.139962087G>CCA369585003TBXAS1c.988G>C (p.Glu330Gln)
c.*777G>C (n.*777G>C)
c.1126G>C (p.Glu376Gln)
c.991G>C (p.Glu331Gln)
c.1129G>C (p.Glu377Gln)
c.787G>C (p.Glu263Gln)
n.959G>C
n.471G>C
n.353G>C
c.931G>C (p.Glu311Gln)
c.-4294966041G>C
c.805G>C (p.Glu269Gln)
c.733G>C (p.Glu245Gln)
7g.139962087G=CA1747341092TBXAS1c.988G= (p.Glu330=)
c.*777G= (n.*777G=)
c.1126G= (p.Glu376=)
c.991G= (p.Glu331=)
c.1129G= (p.Glu377=)
c.787G= (p.Glu263=)
n.959G=
n.471G=
n.353G=
c.931G= (p.Glu311=)
c.-4294966041G=
c.805G= (p.Glu269=)
c.733G= (p.Glu245=)
7g.139962087G>TCA369585006TBXAS1c.988G>T (p.Glu330Ter)
c.*777G>T (n.*777G>T)
c.1126G>T (p.Glu376Ter)
c.991G>T (p.Glu331Ter)
c.1129G>T (p.Glu377Ter)
c.787G>T (p.Glu263Ter)
n.959G>T
n.471G>T
n.353G>T
c.931G>T (p.Glu311Ter)
c.-4294966041G>T
c.805G>T (p.Glu269Ter)
c.733G>T (p.Glu245Ter)
7g.139962088A=CA1747341093TBXAS1c.989A= (p.Glu330=)
c.*778A= (n.*778A=)
c.1127A= (p.Glu376=)
c.992A= (p.Glu331=)
c.1130A= (p.Glu377=)
c.788A= (p.Glu263=)
n.960A=
n.472A=
n.354A=
c.932A= (p.Glu311=)
c.-4294966040A=
c.806A= (p.Glu269=)
c.734A= (p.Glu245=)
7g.139962088A>CCA369585011TBXAS1c.989A>C (p.Glu330Ala)
c.*778A>C (n.*778A>C)
c.1127A>C (p.Glu376Ala)
c.992A>C (p.Glu331Ala)
c.1130A>C (p.Glu377Ala)
c.788A>C (p.Glu263Ala)
n.960A>C
n.472A>C
n.354A>C
c.932A>C (p.Glu311Ala)
c.-4294966040A>C
c.806A>C (p.Glu269Ala)
c.734A>C (p.Glu245Ala)
7g.139962088A>GCA369585013TBXAS1c.989A>G (p.Glu330Gly)
c.*778A>G (n.*778A>G)
c.1127A>G (p.Glu376Gly)
c.992A>G (p.Glu331Gly)
c.1130A>G (p.Glu377Gly)
c.788A>G (p.Glu263Gly)
n.960A>G
n.472A>G
n.354A>G
c.932A>G (p.Glu311Gly)
c.-4294966040A>G
c.806A>G (p.Glu269Gly)
c.734A>G (p.Glu245Gly)
7g.139962088A>TCA369585008TBXAS1c.989A>T (p.Glu330Val)
c.*778A>T (n.*778A>T)
c.1127A>T (p.Glu376Val)
c.992A>T (p.Glu331Val)
c.1130A>T (p.Glu377Val)
c.788A>T (p.Glu263Val)
n.960A>T
n.472A>T
n.354A>T
c.932A>T (p.Glu311Val)
c.-4294966040A>T
c.806A>T (p.Glu269Val)
c.734A>T (p.Glu245Val)
 dbSNP gnomAD v2 gnomAD v4
7g.139962089G>ACA458115462TBXAS1c.990G>A (p.Glu330=)
c.*779G>A (n.*779G>A)
c.1128G>A (p.Glu376=)
c.993G>A (p.Glu331=)
c.1131G>A (p.Glu377=)
c.789G>A (p.Glu263=)
n.961G>A
n.473G>A
n.355G>A
c.933G>A (p.Glu311=)
c.-4294966039G>A
c.807G>A (p.Glu269=)
c.735G>A (p.Glu245=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.139962089G>CCA369585018TBXAS1c.990G>C (p.Glu330Asp)
c.*779G>C (n.*779G>C)
c.1128G>C (p.Glu376Asp)
c.993G>C (p.Glu331Asp)
c.1131G>C (p.Glu377Asp)
c.789G>C (p.Glu263Asp)
n.961G>C
n.473G>C
n.355G>C
c.933G>C (p.Glu311Asp)
c.-4294966039G>C
c.807G>C (p.Glu269Asp)
c.735G>C (p.Glu245Asp)
7g.139962089G=CA1747341094TBXAS1c.990G= (p.Glu330=)
c.*779G= (n.*779G=)
c.1128G= (p.Glu376=)
c.993G= (p.Glu331=)
c.1131G= (p.Glu377=)
c.789G= (p.Glu263=)
n.961G=
n.473G=
n.355G=
c.933G= (p.Glu311=)
c.-4294966039G=
c.807G= (p.Glu269=)
c.735G= (p.Glu245=)
7g.139962089G>TCA369585016TBXAS1c.990G>T (p.Glu330Asp)
c.*779G>T (n.*779G>T)
c.1128G>T (p.Glu376Asp)
c.993G>T (p.Glu331Asp)
c.1131G>T (p.Glu377Asp)
c.789G>T (p.Glu263Asp)
n.961G>T
n.473G>T
n.355G>T
c.933G>T (p.Glu311Asp)
c.-4294966039G>T
c.807G>T (p.Glu269Asp)
c.735G>T (p.Glu245Asp)
7g.139962090A=CA1747341095TBXAS1c.991A= (p.Ile331=)
c.*780A= (n.*780A=)
c.1129A= (p.Ile377=)
c.994A= (p.Ile332=)
c.1132A= (p.Ile378=)
c.790A= (p.Ile264=)
n.962A=
n.474A=
n.356A=
c.934A= (p.Ile312=)
c.-4294966038A=
c.808A= (p.Ile270=)
c.736A= (p.Ile246=)
7g.139962090A>CCA369585024TBXAS1c.991A>C (p.Ile331Leu)
c.*780A>C (n.*780A>C)
c.1129A>C (p.Ile377Leu)
c.994A>C (p.Ile332Leu)
c.1132A>C (p.Ile378Leu)
c.790A>C (p.Ile264Leu)
n.962A>C
n.474A>C
n.356A>C
c.934A>C (p.Ile312Leu)
c.-4294966038A>C
c.808A>C (p.Ile270Leu)
c.736A>C (p.Ile246Leu)
7g.139962090A>GCA369585021TBXAS1c.991A>G (p.Ile331Val)
c.*780A>G (n.*780A>G)
c.1129A>G (p.Ile377Val)
c.994A>G (p.Ile332Val)
c.1132A>G (p.Ile378Val)
c.790A>G (p.Ile264Val)
n.962A>G
n.474A>G
n.356A>G
c.934A>G (p.Ile312Val)
c.-4294966038A>G
c.808A>G (p.Ile270Val)
c.736A>G (p.Ile246Val)
7g.139962090A>TCA4511866TBXAS1c.991A>T (p.Ile331Phe)
c.*780A>T (n.*780A>T)
c.1129A>T (p.Ile377Phe)
c.994A>T (p.Ile332Phe)
c.1132A>T (p.Ile378Phe)
c.790A>T (p.Ile264Phe)
n.962A>T
n.474A>T
n.356A>T
c.934A>T (p.Ile312Phe)
c.-4294966038A>T
c.808A>T (p.Ile270Phe)
c.736A>T (p.Ile246Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.139962091T>ACA369585030TBXAS1c.992T>A (p.Ile331Asn)
c.*781T>A (n.*781T>A)
c.1130T>A (p.Ile377Asn)
c.995T>A (p.Ile332Asn)
c.1133T>A (p.Ile378Asn)
c.791T>A (p.Ile264Asn)
n.963T>A
n.475T>A
n.357T>A
c.935T>A (p.Ile312Asn)
c.-4294966037T>A
c.809T>A (p.Ile270Asn)
c.737T>A (p.Ile246Asn)
7g.139962091T>CCA4511867TBXAS1c.992T>C (p.Ile331Thr)
c.*781T>C (n.*781T>C)
c.1130T>C (p.Ile377Thr)
c.995T>C (p.Ile332Thr)
c.1133T>C (p.Ile378Thr)
c.791T>C (p.Ile264Thr)
n.963T>C
n.475T>C
n.357T>C
c.935T>C (p.Ile312Thr)
c.-4294966037T>C
c.809T>C (p.Ile270Thr)
c.737T>C (p.Ile246Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.139962091T>GCA369585033TBXAS1c.992T>G (p.Ile331Ser)
c.*781T>G (n.*781T>G)
c.1130T>G (p.Ile377Ser)
c.995T>G (p.Ile332Ser)
c.1133T>G (p.Ile378Ser)
c.791T>G (p.Ile264Ser)
n.963T>G
n.475T>G
n.357T>G
c.935T>G (p.Ile312Ser)
c.-4294966037T>G
c.809T>G (p.Ile270Ser)
c.737T>G (p.Ile246Ser)
7g.139962091T=CA1747341096TBXAS1c.992T= (p.Ile331=)
c.*781T= (n.*781T=)
c.1130T= (p.Ile377=)
c.995T= (p.Ile332=)
c.1133T= (p.Ile378=)
c.791T= (p.Ile264=)
n.963T=
n.475T=
n.357T=
c.935T= (p.Ile312=)
c.-4294966037T=
c.809T= (p.Ile270=)
c.737T= (p.Ile246=)
7g.139962092T>ACA458115463TBXAS1c.993T>A (p.Ile331=)
c.*782T>A (n.*782T>A)
c.1131T>A (p.Ile377=)
c.996T>A (p.Ile332=)
c.1134T>A (p.Ile378=)
c.792T>A (p.Ile264=)
n.964T>A
n.476T>A
n.358T>A
c.936T>A (p.Ile312=)
c.-4294966036T>A
c.810T>A (p.Ile270=)
c.738T>A (p.Ile246=)
7g.139962092T>CCA458115464TBXAS1c.993T>C (p.Ile331=)
c.*782T>C (n.*782T>C)
c.1131T>C (p.Ile377=)
c.996T>C (p.Ile332=)
c.1134T>C (p.Ile378=)
c.792T>C (p.Ile264=)
n.964T>C
n.476T>C
n.358T>C
c.936T>C (p.Ile312=)
c.-4294966036T>C
c.810T>C (p.Ile270=)
c.738T>C (p.Ile246=)
7g.139962092T>GCA369585038TBXAS1c.993T>G (p.Ile331Met)
c.*782T>G (n.*782T>G)
c.1131T>G (p.Ile377Met)
c.996T>G (p.Ile332Met)
c.1134T>G (p.Ile378Met)
c.792T>G (p.Ile264Met)
n.964T>G
n.476T>G
n.358T>G
c.936T>G (p.Ile312Met)
c.-4294966036T>G
c.810T>G (p.Ile270Met)
c.738T>G (p.Ile246Met)
7g.139962093G>ACA369585048TBXAS1c.994G>A (p.Val332Met)
c.*783G>A (n.*783G>A)
c.1132G>A (p.Val378Met)
c.997G>A (p.Val333Met)
c.1135G>A (p.Val379Met)
c.793G>A (p.Val265Met)
n.965G>A
n.477G>A
n.359G>A
c.937G>A (p.Val313Met)
c.-4294966035G>A
c.811G>A (p.Val271Met)
c.739G>A (p.Val247Met)
7g.139962093G>CCA369585042TBXAS1c.994G>C (p.Val332Leu)
c.*783G>C (n.*783G>C)
c.1132G>C (p.Val378Leu)
c.997G>C (p.Val333Leu)
c.1135G>C (p.Val379Leu)
c.793G>C (p.Val265Leu)
n.965G>C
n.477G>C
n.359G>C
c.937G>C (p.Val313Leu)
c.-4294966035G>C
c.811G>C (p.Val271Leu)
c.739G>C (p.Val247Leu)
7g.139962093G>TCA369585046TBXAS1c.994G>T (p.Val332Leu)
c.*783G>T (n.*783G>T)
c.1132G>T (p.Val378Leu)
c.997G>T (p.Val333Leu)
c.1135G>T (p.Val379Leu)
c.793G>T (p.Val265Leu)
n.965G>T
n.477G>T
n.359G>T
c.937G>T (p.Val313Leu)
c.-4294966035G>T
c.811G>T (p.Val271Leu)
c.739G>T (p.Val247Leu)
7g.139962094T>ACA369585050TBXAS1c.995T>A (p.Val332Glu)
c.*784T>A (n.*784T>A)
c.1133T>A (p.Val378Glu)
c.998T>A (p.Val333Glu)
c.1136T>A (p.Val379Glu)
c.794T>A (p.Val265Glu)
n.966T>A
n.478T>A
n.360T>A
c.938T>A (p.Val313Glu)
c.-4294966034T>A
c.812T>A (p.Val271Glu)
c.740T>A (p.Val247Glu)
7g.139962094T>CCA369585053TBXAS1c.995T>C (p.Val332Ala)
c.*784T>C (n.*784T>C)
c.1133T>C (p.Val378Ala)
c.998T>C (p.Val333Ala)
c.1136T>C (p.Val379Ala)
c.794T>C (p.Val265Ala)
n.966T>C
n.478T>C
n.360T>C
c.938T>C (p.Val313Ala)
c.-4294966034T>C
c.812T>C (p.Val271Ala)
c.740T>C (p.Val247Ala)
7g.139962094T>GCA369585056TBXAS1c.995T>G (p.Val332Gly)
c.*784T>G (n.*784T>G)
c.1133T>G (p.Val378Gly)
c.998T>G (p.Val333Gly)
c.1136T>G (p.Val379Gly)
c.794T>G (p.Val265Gly)
n.966T>G
n.478T>G
n.360T>G
c.938T>G (p.Val313Gly)
c.-4294966034T>G
c.812T>G (p.Val271Gly)
c.740T>G (p.Val247Gly)
7g.139962094_139962095delinsTGCA1747341097TBXAS1c.995_996delinsTG (p.Val332=)
c.*784_*785delinsTG (n.*784_*785delinsTG)
c.1133_1134delinsTG (p.Val378=)
c.998_999delinsTG (p.Val333=)
c.1136_1137delinsTG (p.Val379=)
c.794_795delinsTG (p.Val265=)
n.966_967delinsTG
n.478_479delinsTG
n.360_361delinsTG
c.938_939delinsTG (p.Val313=)
c.-4294966034_-4294966033delinsTG
c.812_813delinsTG (p.Val271=)
c.740_741delinsTG (p.Val247=)
7g.139962095G>ACA458115465TBXAS1c.996G>A (p.Val332=)
c.*785G>A (n.*785G>A)
c.1134G>A (p.Val378=)
c.999G>A (p.Val333=)
c.1137G>A (p.Val379=)
c.795G>A (p.Val265=)
n.967G>A
n.479G>A
n.361G>A
c.939G>A (p.Val313=)
c.-4294966033G>A
c.813G>A (p.Val271=)
c.741G>A (p.Val247=)
 dbSNP gnomAD v2 gnomAD v4
7g.139962095G>CCA458115466TBXAS1c.996G>C (p.Val332=)
c.*785G>C (n.*785G>C)
c.1134G>C (p.Val378=)
c.999G>C (p.Val333=)
c.1137G>C (p.Val379=)
c.795G>C (p.Val265=)
n.967G>C
n.479G>C
n.361G>C
c.939G>C (p.Val313=)
c.-4294966033G>C
c.813G>C (p.Val271=)
c.741G>C (p.Val247=)
7g.139962095G=CA1747341098TBXAS1c.996G= (p.Val332=)
c.*785G= (n.*785G=)
c.1134G= (p.Val378=)
c.999G= (p.Val333=)
c.1137G= (p.Val379=)
c.795G= (p.Val265=)
n.967G=
n.479G=
n.361G=
c.939G= (p.Val313=)
c.-4294966033G=
c.813G= (p.Val271=)
c.741G= (p.Val247=)
7g.139962095G>TCA458115467TBXAS1c.996G>T (p.Val332=)
c.*785G>T (n.*785G>T)
c.1134G>T (p.Val378=)
c.999G>T (p.Val333=)
c.1137G>T (p.Val379=)
c.795G>T (p.Val265=)
n.967G>T
n.479G>T
n.361G>T
c.939G>T (p.Val313=)
c.-4294966033G>T
c.813G>T (p.Val271=)
c.741G>T (p.Val247=)
7g.139962097delCA578624653TBXAS1c.998del (p.Gly333AlafsTer?)
c.*787del (n.*787del)
c.1136del (p.Gly379AlafsTer?)
c.1001del (p.Gly334AlafsTer?)
c.1139del (p.Gly380AlafsTer?)
c.797del (p.Gly266AlafsTer?)
n.969del
n.481del
n.363del
c.941del (p.Gly314AlafsTer?)
c.-4294966031del
c.815del (p.Gly272AlafsTer?)
c.743del (p.Gly248AlafsTer?)
 dbSNP gnomAD v2
7g.139962096G>ACA369585059TBXAS1c.997G>A (p.Gly333Ser)
c.*786G>A (n.*786G>A)
c.1135G>A (p.Gly379Ser)
c.1000G>A (p.Gly334Ser)
c.1138G>A (p.Gly380Ser)
c.796G>A (p.Gly266Ser)
n.968G>A
n.480G>A
n.362G>A
c.940G>A (p.Gly314Ser)
c.-4294966032G>A
c.814G>A (p.Gly272Ser)
c.742G>A (p.Gly248Ser)
7g.139962096G>CCA369585061TBXAS1c.997G>C (p.Gly333Arg)
c.*786G>C (n.*786G>C)
c.1135G>C (p.Gly379Arg)
c.1000G>C (p.Gly334Arg)
c.1138G>C (p.Gly380Arg)
c.796G>C (p.Gly266Arg)
n.968G>C
n.480G>C
n.362G>C
c.940G>C (p.Gly314Arg)
c.-4294966032G>C
c.814G>C (p.Gly272Arg)
c.742G>C (p.Gly248Arg)
7g.139962096G>TCA369585063TBXAS1c.997G>T (p.Gly333Cys)
c.*786G>T (n.*786G>T)
c.1135G>T (p.Gly379Cys)
c.1000G>T (p.Gly334Cys)
c.1138G>T (p.Gly380Cys)
c.796G>T (p.Gly266Cys)
n.968G>T
n.480G>T
n.362G>T
c.940G>T (p.Gly314Cys)
c.-4294966032G>T
c.814G>T (p.Gly272Cys)
c.742G>T (p.Gly248Cys)
7g.139962100_139962104delCA2685190569TBXAS1c.1001_1005del (p.Gln334LeufsTer9)
c.*790_*794del (n.*790_*794del)
c.1139_1143del (p.Gln380LeufsTer9)
c.1004_1008del (p.Gln335LeufsTer9)
c.1142_1146del (p.Gln381LeufsTer9)
c.800_804del (p.Gln267LeufsTer9)
n.972_976del
n.484_488del
n.366_370del
c.944_948del (p.Gln315LeufsTer9)
c.-4294966028_-4294966024del
c.818_822del (p.Gln273LeufsTer9)
c.746_750del (p.Gln249LeufsTer9)
 gnomAD v4
7g.139962097G>ACA369585067TBXAS1c.998G>A (p.Gly333Asp)
c.*787G>A (n.*787G>A)
c.1136G>A (p.Gly379Asp)
c.1001G>A (p.Gly334Asp)
c.1139G>A (p.Gly380Asp)
c.797G>A (p.Gly266Asp)
n.969G>A
n.481G>A
n.363G>A
c.941G>A (p.Gly314Asp)
c.-4294966031G>A
c.815G>A (p.Gly272Asp)
c.743G>A (p.Gly248Asp)
 dbSNP gnomAD v3 gnomAD v4
7g.139962097G>CCA369585069TBXAS1c.998G>C (p.Gly333Ala)
c.*787G>C (n.*787G>C)
c.1136G>C (p.Gly379Ala)
c.1001G>C (p.Gly334Ala)
c.1139G>C (p.Gly380Ala)
c.797G>C (p.Gly266Ala)
n.969G>C
n.481G>C
n.363G>C
c.941G>C (p.Gly314Ala)
c.-4294966031G>C
c.815G>C (p.Gly272Ala)
c.743G>C (p.Gly248Ala)
7g.139962097G=CA1747341099TBXAS1c.998G= (p.Gly333=)
c.*787G= (n.*787G=)
c.1136G= (p.Gly379=)
c.1001G= (p.Gly334=)
c.1139G= (p.Gly380=)
c.797G= (p.Gly266=)
n.969G=
n.481G=
n.363G=
c.941G= (p.Gly314=)
c.-4294966031G=
c.815G= (p.Gly272=)
c.743G= (p.Gly248=)
7g.139962097G>TCA4511868TBXAS1c.998G>T (p.Gly333Val)
c.*787G>T (n.*787G>T)
c.1136G>T (p.Gly379Val)
c.1001G>T (p.Gly334Val)
c.1139G>T (p.Gly380Val)
c.797G>T (p.Gly266Val)
n.969G>T
n.481G>T
n.363G>T
c.941G>T (p.Gly314Val)
c.-4294966031G>T
c.815G>T (p.Gly272Val)
c.743G>T (p.Gly248Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.139962098C>ACA458115498TBXAS1c.999C>A (p.Gly333=)
c.*788C>A (n.*788C>A)
c.1137C>A (p.Gly379=)
c.1002C>A (p.Gly334=)
c.1140C>A (p.Gly380=)
c.798C>A (p.Gly266=)
n.970C>A
n.482C>A
n.364C>A
c.942C>A (p.Gly314=)
c.-4294966030C>A
c.816C>A (p.Gly272=)
c.744C>A (p.Gly248=)
7g.139962098C=CA1747341100TBXAS1c.999C= (p.Gly333=)
c.*788C= (n.*788C=)
c.1137C= (p.Gly379=)
c.1002C= (p.Gly334=)
c.1140C= (p.Gly380=)
c.798C= (p.Gly266=)
n.970C=
n.482C=
n.364C=
c.942C= (p.Gly314=)
c.-4294966030C=
c.816C= (p.Gly272=)
c.744C= (p.Gly248=)
7g.139962098C>GCA458115499TBXAS1c.999C>G (p.Gly333=)
c.*788C>G (n.*788C>G)
c.1137C>G (p.Gly379=)
c.1002C>G (p.Gly334=)
c.1140C>G (p.Gly380=)
c.798C>G (p.Gly266=)
n.970C>G
n.482C>G
n.364C>G
c.942C>G (p.Gly314=)
c.-4294966030C>G
c.816C>G (p.Gly272=)
c.744C>G (p.Gly248=)
7g.139962098C>TCA4511869TBXAS1c.999C>T (p.Gly333=)
c.*788C>T (n.*788C>T)
c.1137C>T (p.Gly379=)
c.1002C>T (p.Gly334=)
c.1140C>T (p.Gly380=)
c.798C>T (p.Gly266=)
n.970C>T
n.482C>T
n.364C>T
c.942C>T (p.Gly314=)
c.-4294966030C>T
c.816C>T (p.Gly272=)
c.744C>T (p.Gly248=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
7g.139962099C>ACA369585082TBXAS1c.1000C>A (p.Gln334Lys)
c.*789C>A (n.*789C>A)
c.1138C>A (p.Gln380Lys)
c.1003C>A (p.Gln335Lys)
c.1141C>A (p.Gln381Lys)
c.799C>A (p.Gln267Lys)
n.971C>A
n.483C>A
n.365C>A
c.943C>A (p.Gln315Lys)
c.-4294966029C>A
c.817C>A (p.Gln273Lys)
c.745C>A (p.Gln249Lys)
7g.139962099C=CA1747341101TBXAS1c.1000C= (p.Gln334=)
c.*789C= (n.*789C=)
c.1138C= (p.Gln380=)
c.1003C= (p.Gln335=)
c.1141C= (p.Gln381=)
c.799C= (p.Gln267=)
n.971C=
n.483C=
n.365C=
c.943C= (p.Gln315=)
c.-4294966029C=
c.817C= (p.Gln273=)
c.745C= (p.Gln249=)
7g.139962099C>GCA369585078TBXAS1c.1000C>G (p.Gln334Glu)
c.*789C>G (n.*789C>G)
c.1138C>G (p.Gln380Glu)
c.1003C>G (p.Gln335Glu)
c.1141C>G (p.Gln381Glu)
c.799C>G (p.Gln267Glu)
n.971C>G
n.483C>G
n.365C>G
c.943C>G (p.Gln315Glu)
c.-4294966029C>G
c.817C>G (p.Gln273Glu)
c.745C>G (p.Gln249Glu)
7g.139962099C>TCA167953448TBXAS1c.1000C>T (p.Gln334Ter)
c.*789C>T (n.*789C>T)
c.1138C>T (p.Gln380Ter)
c.1003C>T (p.Gln335Ter)
c.1141C>T (p.Gln381Ter)
c.799C>T (p.Gln267Ter)
n.971C>T
n.483C>T
n.365C>T
c.943C>T (p.Gln315Ter)
c.-4294966029C>T
c.817C>T (p.Gln273Ter)
c.745C>T (p.Gln249Ter)
 dbSNP
7g.139962101_139962108delCA2579039959TBXAS1c.1002_1009del (p.Gln334HisfsTer8)
c.*791_*798del (n.*791_*798del)
c.1140_1147del (p.Gln380HisfsTer8)
c.1005_1012del (p.Gln335HisfsTer8)
c.1143_1150del (p.Gln381HisfsTer8)
c.801_808del (p.Gln267HisfsTer8)
n.973_980del
n.485_492del
n.367_374del
c.945_952del (p.Gln315HisfsTer8)
c.-4294966027_-4294966020del
c.819_826del (p.Gln273HisfsTer8)
c.747_754del (p.Gln249HisfsTer8)
7g.139962100A>CCA369585086TBXAS1c.1001A>C (p.Gln334Pro)
c.*790A>C (n.*790A>C)
c.1139A>C (p.Gln380Pro)
c.1004A>C (p.Gln335Pro)
c.1142A>C (p.Gln381Pro)
c.800A>C (p.Gln267Pro)
n.972A>C
n.484A>C
n.366A>C
c.944A>C (p.Gln315Pro)
c.-4294966028A>C
c.818A>C (p.Gln273Pro)
c.746A>C (p.Gln249Pro)
7g.139962100A>GCA369585088TBXAS1c.1001A>G (p.Gln334Arg)
c.*790A>G (n.*790A>G)
c.1139A>G (p.Gln380Arg)
c.1004A>G (p.Gln335Arg)
c.1142A>G (p.Gln381Arg)
c.800A>G (p.Gln267Arg)
n.972A>G
n.484A>G
n.366A>G
c.944A>G (p.Gln315Arg)
c.-4294966028A>G
c.818A>G (p.Gln273Arg)
c.746A>G (p.Gln249Arg)
7g.139962100A>TCA369585091TBXAS1c.1001A>T (p.Gln334Leu)
c.*790A>T (n.*790A>T)
c.1139A>T (p.Gln380Leu)
c.1004A>T (p.Gln335Leu)
c.1142A>T (p.Gln381Leu)
c.800A>T (p.Gln267Leu)
n.972A>T
n.484A>T
n.366A>T
c.944A>T (p.Gln315Leu)
c.-4294966028A>T
c.818A>T (p.Gln273Leu)
c.746A>T (p.Gln249Leu)
7g.139962101G>ACA458115501TBXAS1c.1002G>A (p.Gln334=)
c.*791G>A (n.*791G>A)
c.1140G>A (p.Gln380=)
c.1005G>A (p.Gln335=)
c.1143G>A (p.Gln381=)
c.801G>A (p.Gln267=)
n.973G>A
n.485G>A
n.367G>A
c.945G>A (p.Gln315=)
c.-4294966027G>A
c.819G>A (p.Gln273=)
c.747G>A (p.Gln249=)
 gnomAD v4
7g.139962101G>CCA369585095TBXAS1c.1002G>C (p.Gln334His)
c.*791G>C (n.*791G>C)
c.1140G>C (p.Gln380His)
c.1005G>C (p.Gln335His)
c.1143G>C (p.Gln381His)
c.801G>C (p.Gln267His)
n.973G>C
n.485G>C
n.367G>C
c.945G>C (p.Gln315His)
c.-4294966027G>C
c.819G>C (p.Gln273His)
c.747G>C (p.Gln249His)
7g.139962101G=CA1747341102TBXAS1c.1002G= (p.Gln334=)
c.*791G= (n.*791G=)
c.1140G= (p.Gln380=)
c.1005G= (p.Gln335=)
c.1143G= (p.Gln381=)
c.801G= (p.Gln267=)
n.973G=
n.485G=
n.367G=
c.945G= (p.Gln315=)
c.-4294966027G=
c.819G= (p.Gln273=)
c.747G= (p.Gln249=)
7g.139962101G>TCA369585097TBXAS1c.1002G>T (p.Gln334His)
c.*791G>T (n.*791G>T)
c.1140G>T (p.Gln380His)
c.1005G>T (p.Gln335His)
c.1143G>T (p.Gln381His)
c.801G>T (p.Gln267His)
n.973G>T
n.485G>T
n.367G>T
c.945G>T (p.Gln315His)
c.-4294966027G>T
c.819G>T (p.Gln273His)
c.747G>T (p.Gln249His)
 dbSNP
7g.139962102G>ACA4511870TBXAS1c.1003G>A (p.Ala335Thr)
c.*792G>A (n.*792G>A)
c.1141G>A (p.Ala381Thr)
c.1006G>A (p.Ala336Thr)
c.1144G>A (p.Ala382Thr)
c.802G>A (p.Ala268Thr)
n.974G>A
n.486G>A
n.368G>A
c.946G>A (p.Ala316Thr)
c.-4294966026G>A
c.820G>A (p.Ala274Thr)
c.748G>A (p.Ala250Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.139962102G>CCA369585101TBXAS1c.1003G>C (p.Ala335Pro)
c.*792G>C (n.*792G>C)
c.1141G>C (p.Ala381Pro)
c.1006G>C (p.Ala336Pro)
c.1144G>C (p.Ala382Pro)
c.802G>C (p.Ala268Pro)
n.974G>C
n.486G>C
n.368G>C
c.946G>C (p.Ala316Pro)
c.-4294966026G>C
c.820G>C (p.Ala274Pro)
c.748G>C (p.Ala250Pro)
7g.139962102G=CA1747341103TBXAS1c.1003G= (p.Ala335=)
c.*792G= (n.*792G=)
c.1141G= (p.Ala381=)
c.1006G= (p.Ala336=)
c.1144G= (p.Ala382=)
c.802G= (p.Ala268=)
n.974G=
n.486G=
n.368G=
c.946G= (p.Ala316=)
c.-4294966026G=
c.820G= (p.Ala274=)
c.748G= (p.Ala250=)
7g.139962102G>TCA369585104TBXAS1c.1003G>T (p.Ala335Ser)
c.*792G>T (n.*792G>T)
c.1141G>T (p.Ala381Ser)
c.1006G>T (p.Ala336Ser)
c.1144G>T (p.Ala382Ser)
c.802G>T (p.Ala268Ser)
n.974G>T
n.486G>T
n.368G>T
c.946G>T (p.Ala316Ser)
c.-4294966026G>T
c.820G>T (p.Ala274Ser)
c.748G>T (p.Ala250Ser)
7g.139962103C>ACA369585109TBXAS1c.1004C>A (p.Ala335Asp)
c.*793C>A (n.*793C>A)
c.1142C>A (p.Ala381Asp)
c.1007C>A (p.Ala336Asp)
c.1145C>A (p.Ala382Asp)
c.803C>A (p.Ala268Asp)
n.975C>A
n.487C>A
n.369C>A
c.947C>A (p.Ala316Asp)
c.-4294966025C>A
c.821C>A (p.Ala274Asp)
c.749C>A (p.Ala250Asp)
7g.139962103C=CA1747341104TBXAS1c.1004C= (p.Ala335=)
c.*793C= (n.*793C=)
c.1142C= (p.Ala381=)
c.1007C= (p.Ala336=)
c.1145C= (p.Ala382=)
c.803C= (p.Ala268=)
n.975C=
n.487C=
n.369C=
c.947C= (p.Ala316=)
c.-4294966025C=
c.821C= (p.Ala274=)
c.749C= (p.Ala250=)
7g.139962103C>GCA369585111TBXAS1c.1004C>G (p.Ala335Gly)
c.*793C>G (n.*793C>G)
c.1142C>G (p.Ala381Gly)
c.1007C>G (p.Ala336Gly)
c.1145C>G (p.Ala382Gly)
c.803C>G (p.Ala268Gly)
n.975C>G
n.487C>G
n.369C>G
c.947C>G (p.Ala316Gly)
c.-4294966025C>G
c.821C>G (p.Ala274Gly)
c.749C>G (p.Ala250Gly)
7g.139962103C>TCA369585114TBXAS1c.1004C>T (p.Ala335Val)
c.*793C>T (n.*793C>T)
c.1142C>T (p.Ala381Val)
c.1007C>T (p.Ala336Val)
c.1145C>T (p.Ala382Val)
c.803C>T (p.Ala268Val)
n.975C>T
n.487C>T
n.369C>T
c.947C>T (p.Ala316Val)
c.-4294966025C>T
c.821C>T (p.Ala274Val)
c.749C>T (p.Ala250Val)
 dbSNP gnomAD v2 gnomAD v4
7g.139962104C>ACA458115503TBXAS1c.1005C>A (p.Ala335=)
c.*794C>A (n.*794C>A)
c.1143C>A (p.Ala381=)
c.1008C>A (p.Ala336=)
c.1146C>A (p.Ala382=)
c.804C>A (p.Ala268=)
n.976C>A
n.488C>A
n.370C>A
c.948C>A (p.Ala316=)
c.-4294966024C>A
c.822C>A (p.Ala274=)
c.750C>A (p.Ala250=)
7g.139962104C=CA1747341105TBXAS1c.1005C= (p.Ala335=)
c.*794C= (n.*794C=)
c.1143C= (p.Ala381=)
c.1008C= (p.Ala336=)
c.1146C= (p.Ala382=)
c.804C= (p.Ala268=)
n.976C=
n.488C=
n.370C=
c.948C= (p.Ala316=)
c.-4294966024C=
c.822C= (p.Ala274=)
c.750C= (p.Ala250=)
7g.139962104C>GCA458115504TBXAS1c.1005C>G (p.Ala335=)
c.*794C>G (n.*794C>G)
c.1143C>G (p.Ala381=)
c.1008C>G (p.Ala336=)
c.1146C>G (p.Ala382=)
c.804C>G (p.Ala268=)
n.976C>G
n.488C>G
n.370C>G
c.948C>G (p.Ala316=)
c.-4294966024C>G
c.822C>G (p.Ala274=)
c.750C>G (p.Ala250=)
 ClinVar dbSNP
7g.139962104C>TCA458115505TBXAS1c.1005C>T (p.Ala335=)
c.*794C>T (n.*794C>T)
c.1143C>T (p.Ala381=)
c.1008C>T (p.Ala336=)
c.1146C>T (p.Ala382=)
c.804C>T (p.Ala268=)
n.976C>T
n.488C>T
n.370C>T
c.948C>T (p.Ala316=)
c.-4294966024C>T
c.822C>T (p.Ala274=)
c.750C>T (p.Ala250=)
 gnomAD v4
7g.139962105T>ACA369585123TBXAS1c.1006T>A (p.Phe336Ile)
c.*795T>A (n.*795T>A)
c.1144T>A (p.Phe382Ile)
c.1009T>A (p.Phe337Ile)
c.1147T>A (p.Phe383Ile)
c.805T>A (p.Phe269Ile)
n.977T>A
n.489T>A
n.371T>A
c.949T>A (p.Phe317Ile)
c.-4294966023T>A
c.823T>A (p.Phe275Ile)
c.751T>A (p.Phe251Ile)
7g.139962105T>CCA369585121TBXAS1c.1006T>C (p.Phe336Leu)
c.*795T>C (n.*795T>C)
c.1144T>C (p.Phe382Leu)
c.1009T>C (p.Phe337Leu)
c.1147T>C (p.Phe383Leu)
c.805T>C (p.Phe269Leu)
n.977T>C
n.489T>C
n.371T>C
c.949T>C (p.Phe317Leu)
c.-4294966023T>C
c.823T>C (p.Phe275Leu)
c.751T>C (p.Phe251Leu)
7g.139962105T>GCA369585118TBXAS1c.1006T>G (p.Phe336Val)
c.*795T>G (n.*795T>G)
c.1144T>G (p.Phe382Val)
c.1009T>G (p.Phe337Val)
c.1147T>G (p.Phe383Val)
c.805T>G (p.Phe269Val)
n.977T>G
n.489T>G
n.371T>G
c.949T>G (p.Phe317Val)
c.-4294966023T>G
c.823T>G (p.Phe275Val)
c.751T>G (p.Phe251Val)
7g.139962106T>ACA369585132TBXAS1c.1007T>A (p.Phe336Tyr)
c.*796T>A (n.*796T>A)
c.1145T>A (p.Phe382Tyr)
c.1010T>A (p.Phe337Tyr)
c.1148T>A (p.Phe383Tyr)
c.806T>A (p.Phe269Tyr)
n.978T>A
n.490T>A
n.372T>A
c.950T>A (p.Phe317Tyr)
c.-4294966022T>A
c.824T>A (p.Phe275Tyr)
c.752T>A (p.Phe251Tyr)
7g.139962106T>CCA369585127TBXAS1c.1007T>C (p.Phe336Ser)
c.*796T>C (n.*796T>C)
c.1145T>C (p.Phe382Ser)
c.1010T>C (p.Phe337Ser)
c.1148T>C (p.Phe383Ser)
c.806T>C (p.Phe269Ser)
n.978T>C
n.490T>C
n.372T>C
c.950T>C (p.Phe317Ser)
c.-4294966022T>C
c.824T>C (p.Phe275Ser)
c.752T>C (p.Phe251Ser)
7g.139962106T>GCA369585129TBXAS1c.1007T>G (p.Phe336Cys)
c.*796T>G (n.*796T>G)
c.1145T>G (p.Phe382Cys)
c.1010T>G (p.Phe337Cys)
c.1148T>G (p.Phe383Cys)
c.806T>G (p.Phe269Cys)
n.978T>G
n.490T>G
n.372T>G
c.950T>G (p.Phe317Cys)
c.-4294966022T>G
c.824T>G (p.Phe275Cys)
c.752T>G (p.Phe251Cys)
7g.139962107C>ACA369585137TBXAS1c.1008C>A (p.Phe336Leu)
c.*797C>A (n.*797C>A)
c.1146C>A (p.Phe382Leu)
c.1011C>A (p.Phe337Leu)
c.1149C>A (p.Phe383Leu)
c.807C>A (p.Phe269Leu)
n.979C>A
n.491C>A
n.373C>A
c.951C>A (p.Phe317Leu)
c.-4294966021C>A
c.825C>A (p.Phe275Leu)
c.753C>A (p.Phe251Leu)
7g.139962107C>GCA369585139TBXAS1c.1008C>G (p.Phe336Leu)
c.*797C>G (n.*797C>G)
c.1146C>G (p.Phe382Leu)
c.1011C>G (p.Phe337Leu)
c.1149C>G (p.Phe383Leu)
c.807C>G (p.Phe269Leu)
n.979C>G
n.491C>G
n.373C>G
c.951C>G (p.Phe317Leu)
c.-4294966021C>G
c.825C>G (p.Phe275Leu)
c.753C>G (p.Phe251Leu)
7g.139962107C>TCA458115506TBXAS1c.1008C>T (p.Phe336=)
c.*797C>T (n.*797C>T)
c.1146C>T (p.Phe382=)
c.1011C>T (p.Phe337=)
c.1149C>T (p.Phe383=)
c.807C>T (p.Phe269=)
n.979C>T
n.491C>T
n.373C>T
c.951C>T (p.Phe317=)
c.-4294966021C>T
c.825C>T (p.Phe275=)
c.753C>T (p.Phe251=)
 COSMIC COSMIC
7g.139962108A=CA1747341106TBXAS1c.1009A= (p.Ile337=)
c.*798A= (n.*798A=)
c.1147A= (p.Ile383=)
c.1012A= (p.Ile338=)
c.1150A= (p.Ile384=)
c.808A= (p.Ile270=)
n.980A=
n.492A=
n.374A=
c.952A= (p.Ile318=)
c.-4294966020A=
c.826A= (p.Ile276=)
c.754A= (p.Ile252=)
7g.139962108A>CCA369585142TBXAS1c.1009A>C (p.Ile337Leu)
c.*798A>C (n.*798A>C)
c.1147A>C (p.Ile383Leu)
c.1012A>C (p.Ile338Leu)
c.1150A>C (p.Ile384Leu)
c.808A>C (p.Ile270Leu)
n.980A>C
n.492A>C
n.374A>C
c.952A>C (p.Ile318Leu)
c.-4294966020A>C
c.826A>C (p.Ile276Leu)
c.754A>C (p.Ile252Leu)
7g.139962108A>GCA369585145TBXAS1c.1009A>G (p.Ile337Val)
c.*798A>G (n.*798A>G)
c.1147A>G (p.Ile383Val)
c.1012A>G (p.Ile338Val)
c.1150A>G (p.Ile384Val)
c.808A>G (p.Ile270Val)
n.980A>G
n.492A>G
n.374A>G
c.952A>G (p.Ile318Val)
c.-4294966020A>G
c.826A>G (p.Ile276Val)
c.754A>G (p.Ile252Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.139962108A>TCA369585148TBXAS1c.1009A>T (p.Ile337Phe)
c.*798A>T (n.*798A>T)
c.1147A>T (p.Ile383Phe)
c.1012A>T (p.Ile338Phe)
c.1150A>T (p.Ile384Phe)
c.808A>T (p.Ile270Phe)
n.980A>T
n.492A>T
n.374A>T
c.952A>T (p.Ile318Phe)
c.-4294966020A>T
c.826A>T (p.Ile276Phe)
c.754A>T (p.Ile252Phe)
7g.139962109T>ACA369585152TBXAS1c.1010T>A (p.Ile337Asn)
c.*799T>A (n.*799T>A)
c.1148T>A (p.Ile383Asn)
c.1013T>A (p.Ile338Asn)
c.1151T>A (p.Ile384Asn)
c.809T>A (p.Ile270Asn)
n.981T>A
n.493T>A
n.375T>A
c.953T>A (p.Ile318Asn)
c.-4294966019T>A
c.827T>A (p.Ile276Asn)
c.755T>A (p.Ile252Asn)
 dbSNP gnomAD v2 gnomAD v4
7g.139962109T>CCA369585158TBXAS1c.1010T>C (p.Ile337Thr)
c.*799T>C (n.*799T>C)
c.1148T>C (p.Ile383Thr)
c.1013T>C (p.Ile338Thr)
c.1151T>C (p.Ile384Thr)
c.809T>C (p.Ile270Thr)
n.981T>C
n.493T>C
n.375T>C
c.953T>C (p.Ile318Thr)
c.-4294966019T>C
c.827T>C (p.Ile276Thr)
c.755T>C (p.Ile252Thr)
 gnomAD v4
7g.139962109T>GCA369585154TBXAS1c.1010T>G (p.Ile337Ser)
c.*799T>G (n.*799T>G)
c.1148T>G (p.Ile383Ser)
c.1013T>G (p.Ile338Ser)
c.1151T>G (p.Ile384Ser)
c.809T>G (p.Ile270Ser)
n.981T>G
n.493T>G
n.375T>G
c.953T>G (p.Ile318Ser)
c.-4294966019T>G
c.827T>G (p.Ile276Ser)
c.755T>G (p.Ile252Ser)
7g.139962109T=CA1747341107TBXAS1c.1010T= (p.Ile337=)
c.*799T= (n.*799T=)
c.1148T= (p.Ile383=)
c.1013T= (p.Ile338=)
c.1151T= (p.Ile384=)
c.809T= (p.Ile270=)
n.981T=
n.493T=
n.375T=
c.953T= (p.Ile318=)
c.-4294966019T=
c.827T= (p.Ile276=)
c.755T= (p.Ile252=)
7g.139962110C>ACA458115509TBXAS1c.1011C>A (p.Ile337=)
c.*800C>A (n.*800C>A)
c.1149C>A (p.Ile383=)
c.1014C>A (p.Ile338=)
c.1152C>A (p.Ile384=)
c.810C>A (p.Ile270=)
n.982C>A
n.494C>A
n.376C>A
c.954C>A (p.Ile318=)
c.-4294966018C>A
c.828C>A (p.Ile276=)
c.756C>A (p.Ile252=)
 dbSNP gnomAD v2 gnomAD v4
7g.139962110C=CA1747341108TBXAS1c.1011C= (p.Ile337=)
c.*800C= (n.*800C=)
c.1149C= (p.Ile383=)
c.1014C= (p.Ile338=)
c.1152C= (p.Ile384=)
c.810C= (p.Ile270=)
n.982C=
n.494C=
n.376C=
c.954C= (p.Ile318=)
c.-4294966018C=
c.828C= (p.Ile276=)
c.756C= (p.Ile252=)
7g.139962110C>GCA369585161TBXAS1c.1011C>G (p.Ile337Met)
c.*800C>G (n.*800C>G)
c.1149C>G (p.Ile383Met)
c.1014C>G (p.Ile338Met)
c.1152C>G (p.Ile384Met)
c.810C>G (p.Ile270Met)
n.982C>G
n.494C>G
n.376C>G
c.954C>G (p.Ile318Met)
c.-4294966018C>G
c.828C>G (p.Ile276Met)
c.756C>G (p.Ile252Met)
 gnomAD v4
7g.139962110C>TCA458115508TBXAS1c.1011C>T (p.Ile337=)
c.*800C>T (n.*800C>T)
c.1149C>T (p.Ile383=)
c.1014C>T (p.Ile338=)
c.1152C>T (p.Ile384=)
c.810C>T (p.Ile270=)
n.982C>T
n.494C>T
n.376C>T
c.954C>T (p.Ile318=)
c.-4294966018C>T
c.828C>T (p.Ile276=)
c.756C>T (p.Ile252=)
7g.139962111T>ACA369585163TBXAS1c.1012T>A (p.Phe338Ile)
c.*801T>A (n.*801T>A)
c.1150T>A (p.Phe384Ile)
c.1015T>A (p.Phe339Ile)
c.1153T>A (p.Phe385Ile)
c.811T>A (p.Phe271Ile)
n.983T>A
n.495T>A
n.377T>A
c.955T>A (p.Phe319Ile)
c.-4294966017T>A
c.829T>A (p.Phe277Ile)
c.757T>A (p.Phe253Ile)
7g.139962111T>CCA369585165TBXAS1c.1012T>C (p.Phe338Leu)
c.*801T>C (n.*801T>C)
c.1150T>C (p.Phe384Leu)
c.1015T>C (p.Phe339Leu)
c.1153T>C (p.Phe385Leu)
c.811T>C (p.Phe271Leu)
n.983T>C
n.495T>C
n.377T>C
c.955T>C (p.Phe319Leu)
c.-4294966017T>C
c.829T>C (p.Phe277Leu)
c.757T>C (p.Phe253Leu)
 gnomAD v4
7g.139962111T>GCA369585168TBXAS1c.1012T>G (p.Phe338Val)
c.*801T>G (n.*801T>G)
c.1150T>G (p.Phe384Val)
c.1015T>G (p.Phe339Val)
c.1153T>G (p.Phe385Val)
c.811T>G (p.Phe271Val)
n.983T>G
n.495T>G
n.377T>G
c.955T>G (p.Phe319Val)
c.-4294966017T>G
c.829T>G (p.Phe277Val)
c.757T>G (p.Phe253Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.139962111T=CA1747341109TBXAS1c.1012T= (p.Phe338=)
c.*801T= (n.*801T=)
c.1150T= (p.Phe384=)
c.1015T= (p.Phe339=)
c.1153T= (p.Phe385=)
c.811T= (p.Phe271=)
n.983T=
n.495T=
n.377T=
c.955T= (p.Phe319=)
c.-4294966017T=
c.829T= (p.Phe277=)
c.757T= (p.Phe253=)
7g.139962112T>ACA369585172TBXAS1c.1013T>A (p.Phe338Tyr)
c.*802T>A (n.*802T>A)
c.1151T>A (p.Phe384Tyr)
c.1016T>A (p.Phe339Tyr)
c.1154T>A (p.Phe385Tyr)
c.812T>A (p.Phe271Tyr)
n.984T>A
n.496T>A
n.378T>A
c.956T>A (p.Phe319Tyr)
c.-4294966016T>A
c.830T>A (p.Phe277Tyr)
c.758T>A (p.Phe253Tyr)
7g.139962112T>CCA369585176TBXAS1c.1013T>C (p.Phe338Ser)
c.*802T>C (n.*802T>C)
c.1151T>C (p.Phe384Ser)
c.1016T>C (p.Phe339Ser)
c.1154T>C (p.Phe385Ser)
c.812T>C (p.Phe271Ser)
n.984T>C
n.496T>C
n.378T>C
c.956T>C (p.Phe319Ser)
c.-4294966016T>C
c.830T>C (p.Phe277Ser)
c.758T>C (p.Phe253Ser)
7g.139962112T>GCA369585174TBXAS1c.1013T>G (p.Phe338Cys)
c.*802T>G (n.*802T>G)
c.1151T>G (p.Phe384Cys)
c.1016T>G (p.Phe339Cys)
c.1154T>G (p.Phe385Cys)
c.812T>G (p.Phe271Cys)
n.984T>G
n.496T>G
n.378T>G
c.956T>G (p.Phe319Cys)
c.-4294966016T>G
c.830T>G (p.Phe277Cys)
c.758T>G (p.Phe253Cys)
7g.139962113C>ACA369585180TBXAS1c.1014C>A (p.Phe338Leu)
c.*803C>A (n.*803C>A)
c.1152C>A (p.Phe384Leu)
c.1017C>A (p.Phe339Leu)
c.1155C>A (p.Phe385Leu)
c.813C>A (p.Phe271Leu)
n.985C>A
n.497C>A
n.379C>A
c.957C>A (p.Phe319Leu)
c.-4294966015C>A
c.831C>A (p.Phe277Leu)
c.759C>A (p.Phe253Leu)
7g.139962113C>GCA369585182TBXAS1c.1014C>G (p.Phe338Leu)
c.*803C>G (n.*803C>G)
c.1152C>G (p.Phe384Leu)
c.1017C>G (p.Phe339Leu)
c.1155C>G (p.Phe385Leu)
c.813C>G (p.Phe271Leu)
n.985C>G
n.497C>G
n.379C>G
c.957C>G (p.Phe319Leu)
c.-4294966015C>G
c.831C>G (p.Phe277Leu)
c.759C>G (p.Phe253Leu)
7g.139962113C>TCA458115512TBXAS1c.1014C>T (p.Phe338=)
c.*803C>T (n.*803C>T)
c.1152C>T (p.Phe384=)
c.1017C>T (p.Phe339=)
c.1155C>T (p.Phe385=)
c.813C>T (p.Phe271=)
n.985C>T
n.497C>T
n.379C>T
c.957C>T (p.Phe319=)
c.-4294966015C>T
c.831C>T (p.Phe277=)
c.759C>T (p.Phe253=)
 COSMIC COSMIC
7g.139962114C>ACA369585185TBXAS1c.1015C>A (p.Leu339Ile)
c.*804C>A (n.*804C>A)
c.1153C>A (p.Leu385Ile)
c.1018C>A (p.Leu340Ile)
c.1156C>A (p.Leu386Ile)
c.814C>A (p.Leu272Ile)
n.986C>A
n.498C>A
n.380C>A
c.958C>A (p.Leu320Ile)
c.-4294966014C>A
c.832C>A (p.Leu278Ile)
c.760C>A (p.Leu254Ile)
7g.139962114C>GCA369585187TBXAS1c.1015C>G (p.Leu339Val)
c.*804C>G (n.*804C>G)
c.1153C>G (p.Leu385Val)
c.1018C>G (p.Leu340Val)
c.1156C>G (p.Leu386Val)
c.814C>G (p.Leu272Val)
n.986C>G
n.498C>G
n.380C>G
c.958C>G (p.Leu320Val)
c.-4294966014C>G
c.832C>G (p.Leu278Val)
c.760C>G (p.Leu254Val)
7g.139962114C>TCA369585189TBXAS1c.1015C>T (p.Leu339Phe)
c.*804C>T (n.*804C>T)
c.1153C>T (p.Leu385Phe)
c.1018C>T (p.Leu340Phe)
c.1156C>T (p.Leu386Phe)
c.814C>T (p.Leu272Phe)
n.986C>T
n.498C>T
n.380C>T
c.958C>T (p.Leu320Phe)
c.-4294966014C>T
c.832C>T (p.Leu278Phe)
c.760C>T (p.Leu254Phe)
7g.139962115T>ACA369585192TBXAS1c.1016T>A (p.Leu339His)
c.*805T>A (n.*805T>A)
c.1154T>A (p.Leu385His)
c.1019T>A (p.Leu340His)
c.1157T>A (p.Leu386His)
c.815T>A (p.Leu272His)
n.987T>A
n.499T>A
n.381T>A
c.959T>A (p.Leu320His)
c.-4294966013T>A
c.833T>A (p.Leu278His)
c.761T>A (p.Leu254His)
7g.139962115T>CCA369585194TBXAS1c.1016T>C (p.Leu339Pro)
c.*805T>C (n.*805T>C)
c.1154T>C (p.Leu385Pro)
c.1019T>C (p.Leu340Pro)
c.1157T>C (p.Leu386Pro)
c.815T>C (p.Leu272Pro)
n.987T>C
n.499T>C
n.381T>C
c.959T>C (p.Leu320Pro)
c.-4294966013T>C
c.833T>C (p.Leu278Pro)
c.761T>C (p.Leu254Pro)
 gnomAD v4
7g.139962115T>GCA369585197TBXAS1c.1016T>G (p.Leu339Arg)
c.*805T>G (n.*805T>G)
c.1154T>G (p.Leu385Arg)
c.1019T>G (p.Leu340Arg)
c.1157T>G (p.Leu386Arg)
c.815T>G (p.Leu272Arg)
n.987T>G
n.499T>G
n.381T>G
c.959T>G (p.Leu320Arg)
c.-4294966013T>G
c.833T>G (p.Leu278Arg)
c.761T>G (p.Leu254Arg)
7g.139962116C>ACA458115513TBXAS1c.1017C>A (p.Leu339=)
c.*806C>A (n.*806C>A)
c.1155C>A (p.Leu385=)
c.1020C>A (p.Leu340=)
c.1158C>A (p.Leu386=)
c.816C>A (p.Leu272=)
n.988C>A
n.500C>A
n.382C>A
c.960C>A (p.Leu320=)
c.-4294966012C>A
c.834C>A (p.Leu278=)
c.762C>A (p.Leu254=)
 dbSNP gnomAD v4
7g.139962116C=CA1747341110TBXAS1c.1017C= (p.Leu339=)
c.*806C= (n.*806C=)
c.1155C= (p.Leu385=)
c.1020C= (p.Leu340=)
c.1158C= (p.Leu386=)
c.816C= (p.Leu272=)
n.988C=
n.500C=
n.382C=
c.960C= (p.Leu320=)
c.-4294966012C=
c.834C= (p.Leu278=)
c.762C= (p.Leu254=)
7g.139962116C>GCA458115514TBXAS1c.1017C>G (p.Leu339=)
c.*806C>G (n.*806C>G)
c.1155C>G (p.Leu385=)
c.1020C>G (p.Leu340=)
c.1158C>G (p.Leu386=)
c.816C>G (p.Leu272=)
n.988C>G
n.500C>G
n.382C>G
c.960C>G (p.Leu320=)
c.-4294966012C>G
c.834C>G (p.Leu278=)
c.762C>G (p.Leu254=)
7g.139962116C>TCA458115515TBXAS1c.1017C>T (p.Leu339=)
c.*806C>T (n.*806C>T)
c.1155C>T (p.Leu385=)
c.1020C>T (p.Leu340=)
c.1158C>T (p.Leu386=)
c.816C>T (p.Leu272=)
n.988C>T
n.500C>T
n.382C>T
c.960C>T (p.Leu320=)
c.-4294966012C>T
c.834C>T (p.Leu278=)
c.762C>T (p.Leu254=)
7g.139962117A>CCA369585200TBXAS1c.1018A>C (p.Ile340Leu)
c.*807A>C (n.*807A>C)
c.1156A>C (p.Ile386Leu)
c.1021A>C (p.Ile341Leu)
c.1159A>C (p.Ile387Leu)
c.817A>C (p.Ile273Leu)
n.989A>C
n.501A>C
n.383A>C
c.961A>C (p.Ile321Leu)
c.-4294966011A>C
c.835A>C (p.Ile279Leu)
c.763A>C (p.Ile255Leu)
7g.139962117A>GCA369585203TBXAS1c.1018A>G (p.Ile340Val)
c.*807A>G (n.*807A>G)
c.1156A>G (p.Ile386Val)
c.1021A>G (p.Ile341Val)
c.1159A>G (p.Ile387Val)
c.817A>G (p.Ile273Val)
n.989A>G
n.501A>G
n.383A>G
c.961A>G (p.Ile321Val)
c.-4294966011A>G
c.835A>G (p.Ile279Val)
c.763A>G (p.Ile255Val)
7g.139962117A>TCA369585206TBXAS1c.1018A>T (p.Ile340Phe)
c.*807A>T (n.*807A>T)
c.1156A>T (p.Ile386Phe)
c.1021A>T (p.Ile341Phe)
c.1159A>T (p.Ile387Phe)
c.817A>T (p.Ile273Phe)
n.989A>T
n.501A>T
n.383A>T
c.961A>T (p.Ile321Phe)
c.-4294966011A>T
c.835A>T (p.Ile279Phe)
c.763A>T (p.Ile255Phe)
7g.139962118T>ACA369585213TBXAS1c.1019T>A (p.Ile340Asn)
c.*808T>A (n.*808T>A)
c.1157T>A (p.Ile386Asn)
c.1022T>A (p.Ile341Asn)
c.1160T>A (p.Ile387Asn)
c.818T>A (p.Ile273Asn)
n.990T>A
n.502T>A
n.384T>A
c.962T>A (p.Ile321Asn)
c.-4294966010T>A
c.836T>A (p.Ile279Asn)
c.764T>A (p.Ile255Asn)
 dbSNP gnomAD v2 gnomAD v4
7g.139962118T>CCA369585215TBXAS1c.1019T>C (p.Ile340Thr)
c.*808T>C (n.*808T>C)
c.1157T>C (p.Ile386Thr)
c.1022T>C (p.Ile341Thr)
c.1160T>C (p.Ile387Thr)
c.818T>C (p.Ile273Thr)
n.990T>C
n.502T>C
n.384T>C
c.962T>C (p.Ile321Thr)
c.-4294966010T>C
c.836T>C (p.Ile279Thr)
c.764T>C (p.Ile255Thr)
7g.139962118T>GCA369585210TBXAS1c.1019T>G (p.Ile340Ser)
c.*808T>G (n.*808T>G)
c.1157T>G (p.Ile386Ser)
c.1022T>G (p.Ile341Ser)
c.1160T>G (p.Ile387Ser)
c.818T>G (p.Ile273Ser)
n.990T>G
n.502T>G
n.384T>G
c.962T>G (p.Ile321Ser)
c.-4294966010T>G
c.836T>G (p.Ile279Ser)
c.764T>G (p.Ile255Ser)
7g.139962118T=CA1747341111TBXAS1c.1019T= (p.Ile340=)
c.*808T= (n.*808T=)
c.1157T= (p.Ile386=)
c.1022T= (p.Ile341=)
c.1160T= (p.Ile387=)
c.818T= (p.Ile273=)
n.990T=
n.502T=
n.384T=
c.962T= (p.Ile321=)
c.-4294966010T=
c.836T= (p.Ile279=)
c.764T= (p.Ile255=)
7g.139962119C>ACA458115517TBXAS1c.1020C>A (p.Ile340=)
c.*809C>A (n.*809C>A)
c.1158C>A (p.Ile386=)
c.1023C>A (p.Ile341=)
c.1161C>A (p.Ile387=)
c.819C>A (p.Ile273=)
n.991C>A
n.503C>A
n.385C>A
c.963C>A (p.Ile321=)
c.-4294966009C>A
c.837C>A (p.Ile279=)
c.765C>A (p.Ile255=)
7g.139962119C=CA1747341112TBXAS1c.1020C= (p.Ile340=)
c.*809C= (n.*809C=)
c.1158C= (p.Ile386=)
c.1023C= (p.Ile341=)
c.1161C= (p.Ile387=)
c.819C= (p.Ile273=)
n.991C=
n.503C=
n.385C=
c.963C= (p.Ile321=)
c.-4294966009C=
c.837C= (p.Ile279=)
c.765C= (p.Ile255=)
7g.139962119C>GCA369585217TBXAS1c.1020C>G (p.Ile340Met)
c.*809C>G (n.*809C>G)
c.1158C>G (p.Ile386Met)
c.1023C>G (p.Ile341Met)
c.1161C>G (p.Ile387Met)
c.819C>G (p.Ile273Met)
n.991C>G
n.503C>G
n.385C>G
c.963C>G (p.Ile321Met)
c.-4294966009C>G
c.837C>G (p.Ile279Met)
c.765C>G (p.Ile255Met)
7g.139962119C>TCA4511871TBXAS1c.1020C>T (p.Ile340=)
c.*809C>T (n.*809C>T)
c.1158C>T (p.Ile386=)
c.1023C>T (p.Ile341=)
c.1161C>T (p.Ile387=)
c.819C>T (p.Ile273=)
n.991C>T
n.503C>T
n.385C>T
c.963C>T (p.Ile321=)
c.-4294966009C>T
c.837C>T (p.Ile279=)
c.765C>T (p.Ile255=)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
7g.139962120G>ACA369585223TBXAS1c.1021G>A (p.Ala341Thr)
c.*810G>A (n.*810G>A)
c.1159G>A (p.Ala387Thr)
c.1024G>A (p.Ala342Thr)
c.1162G>A (p.Ala388Thr)
c.820G>A (p.Ala274Thr)
n.992G>A
n.504G>A
n.386G>A
c.964G>A (p.Ala322Thr)
c.-4294966008G>A
c.838G>A (p.Ala280Thr)
c.766G>A (p.Ala256Thr)
 dbSNP gnomAD v3 gnomAD v4
7g.139962120G>CCA369585226TBXAS1c.1021G>C (p.Ala341Pro)
c.*810G>C (n.*810G>C)
c.1159G>C (p.Ala387Pro)
c.1024G>C (p.Ala342Pro)
c.1162G>C (p.Ala388Pro)
c.820G>C (p.Ala274Pro)
n.992G>C
n.504G>C
n.386G>C
c.964G>C (p.Ala322Pro)
c.-4294966008G>C
c.838G>C (p.Ala280Pro)
c.766G>C (p.Ala256Pro)
7g.139962120G=CA1747341113TBXAS1c.1021G= (p.Ala341=)
c.*810G= (n.*810G=)
c.1159G= (p.Ala387=)
c.1024G= (p.Ala342=)
c.1162G= (p.Ala388=)
c.820G= (p.Ala274=)
n.992G=
n.504G=
n.386G=
c.964G= (p.Ala322=)
c.-4294966008G=
c.838G= (p.Ala280=)
c.766G= (p.Ala256=)
7g.139962120G>TCA369585228TBXAS1c.1021G>T (p.Ala341Ser)
c.*810G>T (n.*810G>T)
c.1159G>T (p.Ala387Ser)
c.1024G>T (p.Ala342Ser)
c.1162G>T (p.Ala388Ser)
c.820G>T (p.Ala274Ser)
n.992G>T
n.504G>T
n.386G>T
c.964G>T (p.Ala322Ser)
c.-4294966008G>T
c.838G>T (p.Ala280Ser)
c.766G>T (p.Ala256Ser)
 gnomAD v4
7g.139962121C>ACA369585231TBXAS1c.1022C>A (p.Ala341Asp)
c.*811C>A (n.*811C>A)
c.1160C>A (p.Ala387Asp)
c.1025C>A (p.Ala342Asp)
c.1163C>A (p.Ala388Asp)
c.821C>A (p.Ala274Asp)
n.993C>A
n.505C>A
n.387C>A
c.965C>A (p.Ala322Asp)
c.-4294966007C>A
c.839C>A (p.Ala280Asp)
c.767C>A (p.Ala256Asp)
 dbSNP
7g.139962121C=CA1747341114TBXAS1c.1022C= (p.Ala341=)
c.*811C= (n.*811C=)
c.1160C= (p.Ala387=)
c.1025C= (p.Ala342=)
c.1163C= (p.Ala388=)
c.821C= (p.Ala274=)
n.993C=
n.505C=
n.387C=
c.965C= (p.Ala322=)
c.-4294966007C=
c.839C= (p.Ala280=)
c.767C= (p.Ala256=)
7g.139962121C>GCA369585234TBXAS1c.1022C>G (p.Ala341Gly)
c.*811C>G (n.*811C>G)
c.1160C>G (p.Ala387Gly)
c.1025C>G (p.Ala342Gly)
c.1163C>G (p.Ala388Gly)
c.821C>G (p.Ala274Gly)
n.993C>G
n.505C>G
n.387C>G
c.965C>G (p.Ala322Gly)
c.-4294966007C>G
c.839C>G (p.Ala280Gly)
c.767C>G (p.Ala256Gly)
7g.139962121C>TCA4511872TBXAS1c.1022C>T (p.Ala341Val)
c.*811C>T (n.*811C>T)
c.1160C>T (p.Ala387Val)
c.1025C>T (p.Ala342Val)
c.1163C>T (p.Ala388Val)
c.821C>T (p.Ala274Val)
n.993C>T
n.505C>T
n.387C>T
c.965C>T (p.Ala322Val)
c.-4294966007C>T
c.839C>T (p.Ala280Val)
c.767C>T (p.Ala256Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.139962122T>ACA458115520TBXAS1c.1023T>A (p.Ala341=)
c.*812T>A (n.*812T>A)
c.1161T>A (p.Ala387=)
c.1026T>A (p.Ala342=)
c.1164T>A (p.Ala388=)
c.822T>A (p.Ala274=)
n.994T>A
n.506T>A
n.388T>A
c.966T>A (p.Ala322=)
c.-4294966006T>A
c.840T>A (p.Ala280=)
c.768T>A (p.Ala256=)
 gnomAD v4
7g.139962122T>CCA458115521TBXAS1c.1023T>C (p.Ala341=)
c.*812T>C (n.*812T>C)
c.1161T>C (p.Ala387=)
c.1026T>C (p.Ala342=)
c.1164T>C (p.Ala388=)
c.822T>C (p.Ala274=)
n.994T>C
n.506T>C
n.388T>C
c.966T>C (p.Ala322=)
c.-4294966006T>C
c.840T>C (p.Ala280=)
c.768T>C (p.Ala256=)
7g.139962122T>GCA458115522TBXAS1c.1023T>G (p.Ala341=)
c.*812T>G (n.*812T>G)
c.1161T>G (p.Ala387=)
c.1026T>G (p.Ala342=)
c.1164T>G (p.Ala388=)
c.822T>G (p.Ala274=)
n.994T>G
n.506T>G
n.388T>G
c.966T>G (p.Ala322=)
c.-4294966006T>G
c.840T>G (p.Ala280=)
c.768T>G (p.Ala256=)
7g.139962123G>ACA369585238TBXAS1c.1024G>A (p.Gly342Ser)
c.*813G>A (n.*813G>A)
c.1162G>A (p.Gly388Ser)
c.1027G>A (p.Gly343Ser)
c.1165G>A (p.Gly389Ser)
c.823G>A (p.Gly275Ser)
n.995G>A
n.507G>A
n.389G>A
c.967G>A (p.Gly323Ser)
c.-4294966005G>A
c.841G>A (p.Gly281Ser)
c.769G>A (p.Gly257Ser)
7g.139962123G>CCA369585240TBXAS1c.1024G>C (p.Gly342Arg)
c.*813G>C (n.*813G>C)
c.1162G>C (p.Gly388Arg)
c.1027G>C (p.Gly343Arg)
c.1165G>C (p.Gly389Arg)
c.823G>C (p.Gly275Arg)
n.995G>C
n.507G>C
n.389G>C
c.967G>C (p.Gly323Arg)
c.-4294966005G>C
c.841G>C (p.Gly281Arg)
c.769G>C (p.Gly257Arg)
7g.139962123G>TCA369585242TBXAS1c.1024G>T (p.Gly342Cys)
c.*813G>T (n.*813G>T)
c.1162G>T (p.Gly388Cys)
c.1027G>T (p.Gly343Cys)
c.1165G>T (p.Gly389Cys)
c.823G>T (p.Gly275Cys)
n.995G>T
n.507G>T
n.389G>T
c.967G>T (p.Gly323Cys)
c.-4294966005G>T
c.841G>T (p.Gly281Cys)
c.769G>T (p.Gly257Cys)
7g.139962124G>ACA369585245TBXAS1c.1025G>A (p.Gly342Asp)
c.*814G>A (n.*814G>A)
c.1163G>A (p.Gly388Asp)
c.1028G>A (p.Gly343Asp)
c.1166G>A (p.Gly389Asp)
c.824G>A (p.Gly275Asp)
n.996G>A
n.508G>A
n.390G>A
c.968G>A (p.Gly323Asp)
c.-4294966004G>A
c.842G>A (p.Gly281Asp)
c.770G>A (p.Gly257Asp)
7g.139962124G>CCA369585247TBXAS1c.1025G>C (p.Gly342Ala)
c.*814G>C (n.*814G>C)
c.1163G>C (p.Gly388Ala)
c.1028G>C (p.Gly343Ala)
c.1166G>C (p.Gly389Ala)
c.824G>C (p.Gly275Ala)
n.996G>C
n.508G>C
n.390G>C
c.968G>C (p.Gly323Ala)
c.-4294966004G>C
c.842G>C (p.Gly281Ala)
c.770G>C (p.Gly257Ala)
 gnomAD v4
7g.139962124G>TCA369585250TBXAS1c.1025G>T (p.Gly342Val)
c.*814G>T (n.*814G>T)
c.1163G>T (p.Gly388Val)
c.1028G>T (p.Gly343Val)
c.1166G>T (p.Gly389Val)
c.824G>T (p.Gly275Val)
n.996G>T
n.508G>T
n.390G>T
c.968G>T (p.Gly323Val)
c.-4294966004G>T
c.842G>T (p.Gly281Val)
c.770G>T (p.Gly257Val)
7g.139962125C>ACA458115523TBXAS1c.1026C>A (p.Gly342=)
c.*815C>A (n.*815C>A)
c.1164C>A (p.Gly388=)
c.1029C>A (p.Gly343=)
c.1167C>A (p.Gly389=)
c.825C>A (p.Gly275=)
n.997C>A
n.509C>A
n.391C>A
c.969C>A (p.Gly323=)
c.-4294966003C>A
c.843C>A (p.Gly281=)
c.771C>A (p.Gly257=)
7g.139962125C>GCA458115525TBXAS1c.1026C>G (p.Gly342=)
c.*815C>G (n.*815C>G)
c.1164C>G (p.Gly388=)
c.1029C>G (p.Gly343=)
c.1167C>G (p.Gly389=)
c.825C>G (p.Gly275=)
n.997C>G
n.509C>G
n.391C>G
c.969C>G (p.Gly323=)
c.-4294966003C>G
c.843C>G (p.Gly281=)
c.771C>G (p.Gly257=)
7g.139962125C>TCA458115526TBXAS1c.1026C>T (p.Gly342=)
c.*815C>T (n.*815C>T)
c.1164C>T (p.Gly388=)
c.1029C>T (p.Gly343=)
c.1167C>T (p.Gly389=)
c.825C>T (p.Gly275=)
n.997C>T
n.509C>T
n.391C>T
c.969C>T (p.Gly323=)
c.-4294966003C>T
c.843C>T (p.Gly281=)
c.771C>T (p.Gly257=)
7g.139962126T>ACA369585258TBXAS1c.1027T>A (p.Tyr343Asn)
c.*816T>A (n.*816T>A)
c.1165T>A (p.Tyr389Asn)
c.1030T>A (p.Tyr344Asn)
c.1168T>A (p.Tyr390Asn)
c.826T>A (p.Tyr276Asn)
n.998T>A
n.510T>A
n.392T>A
c.970T>A (p.Tyr324Asn)
c.-4294966002T>A
c.844T>A (p.Tyr282Asn)
c.772T>A (p.Tyr258Asn)
7g.139962126T>CCA369585253TBXAS1c.1027T>C (p.Tyr343His)
c.*816T>C (n.*816T>C)
c.1165T>C (p.Tyr389His)
c.1030T>C (p.Tyr344His)
c.1168T>C (p.Tyr390His)
c.826T>C (p.Tyr276His)
n.998T>C
n.510T>C
n.392T>C
c.970T>C (p.Tyr324His)
c.-4294966002T>C
c.844T>C (p.Tyr282His)
c.772T>C (p.Tyr258His)
 gnomAD v4
7g.139962126T>GCA369585255TBXAS1c.1027T>G (p.Tyr343Asp)
c.*816T>G (n.*816T>G)
c.1165T>G (p.Tyr389Asp)
c.1030T>G (p.Tyr344Asp)
c.1168T>G (p.Tyr390Asp)
c.826T>G (p.Tyr276Asp)
n.998T>G
n.510T>G
n.392T>G
c.970T>G (p.Tyr324Asp)
c.-4294966002T>G
c.844T>G (p.Tyr282Asp)
c.772T>G (p.Tyr258Asp)
7g.139962127A>CCA369585261TBXAS1c.1028A>C (p.Tyr343Ser)
c.*817A>C (n.*817A>C)
c.1166A>C (p.Tyr389Ser)
c.1031A>C (p.Tyr344Ser)
c.1169A>C (p.Tyr390Ser)
c.827A>C (p.Tyr276Ser)
n.999A>C
n.511A>C
n.393A>C
c.971A>C (p.Tyr324Ser)
c.-4294966001A>C
c.845A>C (p.Tyr282Ser)
c.773A>C (p.Tyr258Ser)
7g.139962127A>GCA369585264TBXAS1c.1028A>G (p.Tyr343Cys)
c.*817A>G (n.*817A>G)
c.1166A>G (p.Tyr389Cys)
c.1031A>G (p.Tyr344Cys)
c.1169A>G (p.Tyr390Cys)
c.827A>G (p.Tyr276Cys)
n.999A>G
n.511A>G
n.393A>G
c.971A>G (p.Tyr324Cys)
c.-4294966001A>G
c.845A>G (p.Tyr282Cys)
c.773A>G (p.Tyr258Cys)
 gnomAD v4
7g.139962127A>TCA369585265TBXAS1c.1028A>T (p.Tyr343Phe)
c.*817A>T (n.*817A>T)
c.1166A>T (p.Tyr389Phe)
c.1031A>T (p.Tyr344Phe)
c.1169A>T (p.Tyr390Phe)
c.827A>T (p.Tyr276Phe)
n.999A>T
n.511A>T
n.393A>T
c.971A>T (p.Tyr324Phe)
c.-4294966001A>T
c.845A>T (p.Tyr282Phe)
c.773A>T (p.Tyr258Phe)
7g.139962128delCA2685190570TBXAS1c.1029del (p.Tyr343Ter)
c.*818del (n.*818del)
c.1167del (p.Tyr389Ter)
c.1032del (p.Tyr344Ter)
c.1170del (p.Tyr390Ter)
c.828del (p.Tyr276Ter)
n.1000del
n.512del
n.394del
c.972del (p.Tyr324Ter)
c.-4294966000del
c.846del (p.Tyr282Ter)
c.774del (p.Tyr258Ter)
 gnomAD v4
7g.139962128T>ACA369585268TBXAS1c.1029T>A (p.Tyr343Ter)
c.*818T>A (n.*818T>A)
c.1167T>A (p.Tyr389Ter)
c.1032T>A (p.Tyr344Ter)
c.1170T>A (p.Tyr390Ter)
c.828T>A (p.Tyr276Ter)
n.1000T>A
n.512T>A
n.394T>A
c.972T>A (p.Tyr324Ter)
c.-4294966000T>A
c.846T>A (p.Tyr282Ter)
c.774T>A (p.Tyr258Ter)
7g.139962128T>CCA4511873TBXAS1c.1029T>C (p.Tyr343=)
c.*818T>C (n.*818T>C)
c.1167T>C (p.Tyr389=)
c.1032T>C (p.Tyr344=)
c.1170T>C (p.Tyr390=)
c.828T>C (p.Tyr276=)
n.1000T>C
n.512T>C
n.394T>C
c.972T>C (p.Tyr324=)
c.-4294966000T>C
c.846T>C (p.Tyr282=)
c.774T>C (p.Tyr258=)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.139962128T>GCA369585271TBXAS1c.1029T>G (p.Tyr343Ter)
c.*818T>G (n.*818T>G)
c.1167T>G (p.Tyr389Ter)
c.1032T>G (p.Tyr344Ter)
c.1170T>G (p.Tyr390Ter)
c.828T>G (p.Tyr276Ter)
n.1000T>G
n.512T>G
n.394T>G
c.972T>G (p.Tyr324Ter)
c.-4294966000T>G
c.846T>G (p.Tyr282Ter)
c.774T>G (p.Tyr258Ter)
 dbSNP
7g.139962128T=CA1747341115TBXAS1c.1029T= (p.Tyr343=)
c.*818T= (n.*818T=)
c.1167T= (p.Tyr389=)
c.1032T= (p.Tyr344=)
c.1170T= (p.Tyr390=)
c.828T= (p.Tyr276=)
n.1000T=
n.512T=
n.394T=
c.972T= (p.Tyr324=)
c.-4294966000T=
c.846T= (p.Tyr282=)
c.774T= (p.Tyr258=)
7g.139962129G>ACA369585276TBXAS1c.1030G>A (p.Glu344Lys)
c.*819G>A (n.*819G>A)
c.1168G>A (p.Glu390Lys)
c.1033G>A (p.Glu345Lys)
c.1171G>A (p.Glu391Lys)
c.829G>A (p.Glu277Lys)
n.1001G>A
n.513G>A
n.395G>A
c.973G>A (p.Glu325Lys)
c.-4294965999G>A
c.847G>A (p.Glu283Lys)
c.775G>A (p.Glu259Lys)
7g.139962129G>CCA369585278TBXAS1c.1030G>C (p.Glu344Gln)
c.*819G>C (n.*819G>C)
c.1168G>C (p.Glu390Gln)
c.1033G>C (p.Glu345Gln)
c.1171G>C (p.Glu391Gln)
c.829G>C (p.Glu277Gln)
n.1001G>C
n.513G>C
n.395G>C
c.973G>C (p.Glu325Gln)
c.-4294965999G>C
c.847G>C (p.Glu283Gln)
c.775G>C (p.Glu259Gln)
7g.139962129G>TCA369585281TBXAS1c.1030G>T (p.Glu344Ter)
c.*819G>T (n.*819G>T)
c.1168G>T (p.Glu390Ter)
c.1033G>T (p.Glu345Ter)
c.1171G>T (p.Glu391Ter)
c.829G>T (p.Glu277Ter)
n.1001G>T
n.513G>T
n.395G>T
c.973G>T (p.Glu325Ter)
c.-4294965999G>T
c.847G>T (p.Glu283Ter)
c.775G>T (p.Glu259Ter)
7g.139962130A>CCA369585285TBXAS1c.1031A>C (p.Glu344Ala)
c.*820A>C (n.*820A>C)
c.1169A>C (p.Glu390Ala)
c.1034A>C (p.Glu345Ala)
c.1172A>C (p.Glu391Ala)
c.830A>C (p.Glu277Ala)
n.1002A>C
n.514A>C
n.396A>C
c.974A>C (p.Glu325Ala)
c.-4294965998A>C
c.848A>C (p.Glu283Ala)
c.776A>C (p.Glu259Ala)
7g.139962130A>GCA369585286TBXAS1c.1031A>G (p.Glu344Gly)
c.*820A>G (n.*820A>G)
c.1169A>G (p.Glu390Gly)
c.1034A>G (p.Glu345Gly)
c.1172A>G (p.Glu391Gly)
c.830A>G (p.Glu277Gly)
n.1002A>G
n.514A>G
n.396A>G
c.974A>G (p.Glu325Gly)
c.-4294965998A>G
c.848A>G (p.Glu283Gly)
c.776A>G (p.Glu259Gly)
7g.139962130A>TCA369585288TBXAS1c.1031A>T (p.Glu344Val)
c.*820A>T (n.*820A>T)
c.1169A>T (p.Glu390Val)
c.1034A>T (p.Glu345Val)
c.1172A>T (p.Glu391Val)
c.830A>T (p.Glu277Val)
n.1002A>T
n.514A>T
n.396A>T
c.974A>T (p.Glu325Val)
c.-4294965998A>T
c.848A>T (p.Glu283Val)
c.776A>T (p.Glu259Val)
7g.139962131A>CCA369585291TBXAS1c.1032A>C (p.Glu344Asp)
c.*821A>C (n.*821A>C)
c.1170A>C (p.Glu390Asp)
c.1035A>C (p.Glu345Asp)
c.1173A>C (p.Glu391Asp)
c.831A>C (p.Glu277Asp)
n.1003A>C
n.515A>C
n.397A>C
c.975A>C (p.Glu325Asp)
c.-4294965997A>C
c.849A>C (p.Glu283Asp)
c.777A>C (p.Glu259Asp)
7g.139962131A>GCA458115530TBXAS1c.1032A>G (p.Glu344=)
c.*821A>G (n.*821A>G)
c.1170A>G (p.Glu390=)
c.1035A>G (p.Glu345=)
c.1173A>G (p.Glu391=)
c.831A>G (p.Glu277=)
n.1003A>G
n.515A>G
n.397A>G
c.975A>G (p.Glu325=)
c.-4294965997A>G
c.849A>G (p.Glu283=)
c.777A>G (p.Glu259=)
7g.139962131A>TCA369585293TBXAS1c.1032A>T (p.Glu344Asp)
c.*821A>T (n.*821A>T)
c.1170A>T (p.Glu390Asp)
c.1035A>T (p.Glu345Asp)
c.1173A>T (p.Glu391Asp)
c.831A>T (p.Glu277Asp)
n.1003A>T
n.515A>T
n.397A>T
c.975A>T (p.Glu325Asp)
c.-4294965997A>T
c.849A>T (p.Glu283Asp)
c.777A>T (p.Glu259Asp)
7g.139962132A=CA1747341116TBXAS1c.1033A= (p.Ile345=)
c.*822A= (n.*822A=)
c.1171A= (p.Ile391=)
c.1036A= (p.Ile346=)
c.1174A= (p.Ile392=)
c.832A= (p.Ile278=)
n.1004A=
n.516A=
n.398A=
c.976A= (p.Ile326=)
c.-4294965996A=
c.850A= (p.Ile284=)
c.778A= (p.Ile260=)
7g.139962132A>CCA369585296TBXAS1c.1033A>C (p.Ile345Leu)
c.*822A>C (n.*822A>C)
c.1171A>C (p.Ile391Leu)
c.1036A>C (p.Ile346Leu)
c.1174A>C (p.Ile392Leu)
c.832A>C (p.Ile278Leu)
n.1004A>C
n.516A>C
n.398A>C
c.976A>C (p.Ile326Leu)
c.-4294965996A>C
c.850A>C (p.Ile284Leu)
c.778A>C (p.Ile260Leu)
7g.139962132A>GCA369585299TBXAS1c.1033A>G (p.Ile345Val)
c.*822A>G (n.*822A>G)
c.1171A>G (p.Ile391Val)
c.1036A>G (p.Ile346Val)
c.1174A>G (p.Ile392Val)
c.832A>G (p.Ile278Val)
n.1004A>G
n.516A>G
n.398A>G
c.976A>G (p.Ile326Val)
c.-4294965996A>G
c.850A>G (p.Ile284Val)
c.778A>G (p.Ile260Val)
 dbSNP gnomAD v4
7g.139962132A>TCA369585302TBXAS1c.1033A>T (p.Ile345Phe)
c.*822A>T (n.*822A>T)
c.1171A>T (p.Ile391Phe)
c.1036A>T (p.Ile346Phe)
c.1174A>T (p.Ile392Phe)
c.832A>T (p.Ile278Phe)
n.1004A>T
n.516A>T
n.398A>T
c.976A>T (p.Ile326Phe)
c.-4294965996A>T
c.850A>T (p.Ile284Phe)
c.778A>T (p.Ile260Phe)
7g.139962133T>ACA369585304TBXAS1c.1034T>A (p.Ile345Asn)
c.*823T>A (n.*823T>A)
c.1172T>A (p.Ile391Asn)
c.1037T>A (p.Ile346Asn)
c.1175T>A (p.Ile392Asn)
c.833T>A (p.Ile278Asn)
n.1005T>A
n.517T>A
n.399T>A
c.977T>A (p.Ile326Asn)
c.-4294965995T>A
c.851T>A (p.Ile284Asn)
c.779T>A (p.Ile260Asn)
 ClinVar
7g.139962133T>CCA369585307TBXAS1c.1034T>C (p.Ile345Thr)
c.*823T>C (n.*823T>C)
c.1172T>C (p.Ile391Thr)
c.1037T>C (p.Ile346Thr)
c.1175T>C (p.Ile392Thr)
c.833T>C (p.Ile278Thr)
n.1005T>C
n.517T>C
n.399T>C
c.977T>C (p.Ile326Thr)
c.-4294965995T>C
c.851T>C (p.Ile284Thr)
c.779T>C (p.Ile260Thr)
7g.139962133T>GCA369585309TBXAS1c.1034T>G (p.Ile345Ser)
c.*823T>G (n.*823T>G)
c.1172T>G (p.Ile391Ser)
c.1037T>G (p.Ile346Ser)
c.1175T>G (p.Ile392Ser)
c.833T>G (p.Ile278Ser)
n.1005T>G
n.517T>G
n.399T>G
c.977T>G (p.Ile326Ser)
c.-4294965995T>G
c.851T>G (p.Ile284Ser)
c.779T>G (p.Ile260Ser)
7g.139962134C>ACA458115532TBXAS1c.1035C>A (p.Ile345=)
c.*824C>A (n.*824C>A)
c.1173C>A (p.Ile391=)
c.1038C>A (p.Ile346=)
c.1176C>A (p.Ile392=)
c.834C>A (p.Ile278=)
n.1006C>A
n.518C>A
n.400C>A
c.978C>A (p.Ile326=)
c.-4294965994C>A
c.852C>A (p.Ile284=)
c.780C>A (p.Ile260=)
 gnomAD v4
7g.139962134C=CA1747341117TBXAS1c.1035C= (p.Ile345=)
c.*824C= (n.*824C=)
c.1173C= (p.Ile391=)
c.1038C= (p.Ile346=)
c.1176C= (p.Ile392=)
c.834C= (p.Ile278=)
n.1006C=
n.518C=
n.400C=
c.978C= (p.Ile326=)
c.-4294965994C=
c.852C= (p.Ile284=)
c.780C= (p.Ile260=)
7g.139962134C>GCA369585311TBXAS1c.1035C>G (p.Ile345Met)
c.*824C>G (n.*824C>G)
c.1173C>G (p.Ile391Met)
c.1038C>G (p.Ile346Met)
c.1176C>G (p.Ile392Met)
c.834C>G (p.Ile278Met)
n.1006C>G
n.518C>G
n.400C>G
c.978C>G (p.Ile326Met)
c.-4294965994C>G
c.852C>G (p.Ile284Met)
c.780C>G (p.Ile260Met)
7g.139962134C>TCA167953449TBXAS1c.1035C>T (p.Ile345=)
c.*824C>T (n.*824C>T)
c.1173C>T (p.Ile391=)
c.1038C>T (p.Ile346=)
c.1176C>T (p.Ile392=)
c.834C>T (p.Ile278=)
n.1006C>T
n.518C>T
n.400C>T
c.978C>T (p.Ile326=)
c.-4294965994C>T
c.852C>T (p.Ile284=)
c.780C>T (p.Ile260=)
 dbSNP
7g.139962135A>CCA369585317TBXAS1c.1036A>C (p.Ile346Leu)
c.*825A>C (n.*825A>C)
c.1174A>C (p.Ile392Leu)
c.1039A>C (p.Ile347Leu)
c.1177A>C (p.Ile393Leu)
c.835A>C (p.Ile279Leu)
n.1007A>C
n.519A>C
n.401A>C
c.979A>C (p.Ile327Leu)
c.-4294965993A>C
c.853A>C (p.Ile285Leu)
c.781A>C (p.Ile261Leu)
 gnomAD v4
7g.139962135A>GCA369585320TBXAS1c.1036A>G (p.Ile346Val)
c.*825A>G (n.*825A>G)
c.1174A>G (p.Ile392Val)
c.1039A>G (p.Ile347Val)
c.1177A>G (p.Ile393Val)
c.835A>G (p.Ile279Val)
n.1007A>G
n.519A>G
n.401A>G
c.979A>G (p.Ile327Val)
c.-4294965993A>G
c.853A>G (p.Ile285Val)
c.781A>G (p.Ile261Val)
 dbSNP
7g.139962135A>TCA369585322TBXAS1c.1036A>T (p.Ile346Phe)
c.*825A>T (n.*825A>T)
c.1174A>T (p.Ile392Phe)
c.1039A>T (p.Ile347Phe)
c.1177A>T (p.Ile393Phe)
c.835A>T (p.Ile279Phe)
n.1007A>T
n.519A>T
n.401A>T
c.979A>T (p.Ile327Phe)
c.-4294965993A>T
c.853A>T (p.Ile285Phe)
c.781A>T (p.Ile261Phe)
7g.139962136T>ACA369585330TBXAS1c.1037T>A (p.Ile346Asn)
c.*826T>A (n.*826T>A)
c.1175T>A (p.Ile392Asn)
c.1040T>A (p.Ile347Asn)
c.1178T>A (p.Ile393Asn)
c.836T>A (p.Ile279Asn)
n.1008T>A
n.520T>A
n.402T>A
c.980T>A (p.Ile327Asn)
c.-4294965992T>A
c.854T>A (p.Ile285Asn)
c.782T>A (p.Ile261Asn)
7g.139962136T>CCA369585328TBXAS1c.1037T>C (p.Ile346Thr)
c.*826T>C (n.*826T>C)
c.1175T>C (p.Ile392Thr)
c.1040T>C (p.Ile347Thr)
c.1178T>C (p.Ile393Thr)
c.836T>C (p.Ile279Thr)
n.1008T>C
n.520T>C
n.402T>C
c.980T>C (p.Ile327Thr)
c.-4294965992T>C
c.854T>C (p.Ile285Thr)
c.782T>C (p.Ile261Thr)
7g.139962136T>GCA369585325TBXAS1c.1037T>G (p.Ile346Ser)
c.*826T>G (n.*826T>G)
c.1175T>G (p.Ile392Ser)
c.1040T>G (p.Ile347Ser)
c.1178T>G (p.Ile393Ser)
c.836T>G (p.Ile279Ser)
n.1008T>G
n.520T>G
n.402T>G
c.980T>G (p.Ile327Ser)
c.-4294965992T>G
c.854T>G (p.Ile285Ser)
c.782T>G (p.Ile261Ser)
7g.139962136_139962139delinsTCACCA1747341118TBXAS1c.1037_1040delinsTCAC (p.Ile346=)
c.*826_*829delinsTCAC (n.*826_*829delinsTCAC)
c.1175_1178delinsTCAC (p.Ile392=)
c.1040_1043delinsTCAC (p.Ile347=)
c.1178_1181delinsTCAC (p.Ile393=)
c.836_839delinsTCAC (p.Ile279=)
n.1008_1011delinsTCAC
n.520_523delinsTCAC
n.402_405delinsTCAC
c.980_983delinsTCAC (p.Ile327=)
c.-4294965992_-4294965989delinsTCAC
c.854_857delinsTCAC (p.Ile285=)
c.782_785delinsTCAC (p.Ile261=)
7g.139962137C>ACA458115533TBXAS1c.1038C>A (p.Ile346=)
c.*827C>A (n.*827C>A)
c.1176C>A (p.Ile392=)
c.1041C>A (p.Ile347=)
c.1179C>A (p.Ile393=)
c.837C>A (p.Ile279=)
n.1009C>A
n.521C>A
n.403C>A
c.981C>A (p.Ile327=)
c.-4294965991C>A
c.855C>A (p.Ile285=)
c.783C>A (p.Ile261=)
7g.139962137C>GCA369585333TBXAS1c.1038C>G (p.Ile346Met)
c.*827C>G (n.*827C>G)
c.1176C>G (p.Ile392Met)
c.1041C>G (p.Ile347Met)
c.1179C>G (p.Ile393Met)
c.837C>G (p.Ile279Met)
n.1009C>G
n.521C>G
n.403C>G
c.981C>G (p.Ile327Met)
c.-4294965991C>G
c.855C>G (p.Ile285Met)
c.783C>G (p.Ile261Met)
7g.139962137C>TCA458115534TBXAS1c.1038C>T (p.Ile346=)
c.*827C>T (n.*827C>T)
c.1176C>T (p.Ile392=)
c.1041C>T (p.Ile347=)
c.1179C>T (p.Ile393=)
c.837C>T (p.Ile279=)
n.1009C>T
n.521C>T
n.403C>T
c.981C>T (p.Ile327=)
c.-4294965991C>T
c.855C>T (p.Ile285=)
c.783C>T (p.Ile261=)
 gnomAD v4 COSMIC COSMIC
7g.139962139_139962141delCA1107899007TBXAS1c.1040_1042del (p.Thr347del)
c.*829_*831del (n.*829_*831del)
c.1178_1180del (p.Thr393del)
c.1043_1045del (p.Thr348del)
c.1181_1183del (p.Thr394del)
c.839_841del (p.Thr280del)
n.1011_1013del
n.523_525del
n.405_407del
c.983_985del (p.Thr328del)
c.-4294965989_-4294965987del
c.857_859del (p.Thr286del)
c.785_787del (p.Thr262del)
 dbSNP gnomAD v3 gnomAD v4
7g.139962138A>CCA369585336TBXAS1c.1039A>C (p.Thr347Pro)
c.*828A>C (n.*828A>C)
c.1177A>C (p.Thr393Pro)
c.1042A>C (p.Thr348Pro)
c.1180A>C (p.Thr394Pro)
c.838A>C (p.Thr280Pro)
n.1010A>C
n.522A>C
n.404A>C
c.982A>C (p.Thr328Pro)
c.-4294965990A>C
c.856A>C (p.Thr286Pro)
c.784A>C (p.Thr262Pro)
7g.139962138A>GCA369585339TBXAS1c.1039A>G (p.Thr347Ala)
c.*828A>G (n.*828A>G)
c.1177A>G (p.Thr393Ala)
c.1042A>G (p.Thr348Ala)
c.1180A>G (p.Thr394Ala)
c.838A>G (p.Thr280Ala)
n.1010A>G
n.522A>G
n.404A>G
c.982A>G (p.Thr328Ala)
c.-4294965990A>G
c.856A>G (p.Thr286Ala)
c.784A>G (p.Thr262Ala)
 gnomAD v4
7g.139962138A>TCA369585342TBXAS1c.1039A>T (p.Thr347Ser)
c.*828A>T (n.*828A>T)
c.1177A>T (p.Thr393Ser)
c.1042A>T (p.Thr348Ser)
c.1180A>T (p.Thr394Ser)
c.838A>T (p.Thr280Ser)
n.1010A>T
n.522A>T
n.404A>T
c.982A>T (p.Thr328Ser)
c.-4294965990A>T
c.856A>T (p.Thr286Ser)
c.784A>T (p.Thr262Ser)

Number of alleles fetched