Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.140015731G>ACA121739TBXAS1c.1235G>A (p.Arg412Gln)
c.*1024G>A (n.*1024G>A)
c.1373G>A (p.Arg458Gln)
c.1238G>A (p.Arg413Gln)
c.1376G>A (p.Arg459Gln)
c.1034G>A (p.Arg345Gln)
n.1206G>A
c.1178G>A (p.Arg393Gln)
c.-4294965794G>A
c.1052G>A (p.Arg351Gln)
c.980G>A (p.Arg327Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.140015731G>CCA369517312TBXAS1c.1235G>C (p.Arg412Pro)
c.*1024G>C (n.*1024G>C)
c.1373G>C (p.Arg458Pro)
c.1238G>C (p.Arg413Pro)
c.1376G>C (p.Arg459Pro)
c.1034G>C (p.Arg345Pro)
n.1206G>C
c.1178G>C (p.Arg393Pro)
c.-4294965794G>C
c.1052G>C (p.Arg351Pro)
c.980G>C (p.Arg327Pro)
7g.140015731G=CA1747365631TBXAS1c.1235G= (p.Arg412=)
c.*1024G= (n.*1024G=)
c.1373G= (p.Arg458=)
c.1238G= (p.Arg413=)
c.1376G= (p.Arg459=)
c.1034G= (p.Arg345=)
n.1206G=
c.1178G= (p.Arg393=)
c.-4294965794G=
c.1052G= (p.Arg351=)
c.980G= (p.Arg327=)
7g.140015731G>TCA369517313TBXAS1c.1235G>T (p.Arg412Leu)
c.*1024G>T (n.*1024G>T)
c.1373G>T (p.Arg458Leu)
c.1238G>T (p.Arg413Leu)
c.1376G>T (p.Arg459Leu)
c.1034G>T (p.Arg345Leu)
n.1206G>T
c.1178G>T (p.Arg393Leu)
c.-4294965794G>T
c.1052G>T (p.Arg351Leu)
c.980G>T (p.Arg327Leu)
 gnomAD v4
7g.140015732G>ACA457967842TBXAS1c.1236G>A (p.Arg412=)
c.*1025G>A (n.*1025G>A)
c.1374G>A (p.Arg458=)
c.1239G>A (p.Arg413=)
c.1377G>A (p.Arg459=)
c.1035G>A (p.Arg345=)
n.1207G>A
c.1179G>A (p.Arg393=)
c.-4294965793G>A
c.1053G>A (p.Arg351=)
c.981G>A (p.Arg327=)
7g.140015732G>CCA457967841TBXAS1c.1236G>C (p.Arg412=)
c.*1025G>C (n.*1025G>C)
c.1374G>C (p.Arg458=)
c.1239G>C (p.Arg413=)
c.1377G>C (p.Arg459=)
c.1035G>C (p.Arg345=)
n.1207G>C
c.1179G>C (p.Arg393=)
c.-4294965793G>C
c.1053G>C (p.Arg351=)
c.981G>C (p.Arg327=)
7g.140015732G>TCA457967840TBXAS1c.1236G>T (p.Arg412=)
c.*1025G>T (n.*1025G>T)
c.1374G>T (p.Arg458=)
c.1239G>T (p.Arg413=)
c.1377G>T (p.Arg459=)
c.1035G>T (p.Arg345=)
n.1207G>T
c.1179G>T (p.Arg393=)
c.-4294965793G>T
c.1053G>T (p.Arg351=)
c.981G>T (p.Arg327=)
 gnomAD v4
7g.140015733G>ACA369517317TBXAS1c.1237G>A (p.Glu413Lys)
c.*1026G>A (n.*1026G>A)
c.1375G>A (p.Glu459Lys)
c.1240G>A (p.Glu414Lys)
c.1378G>A (p.Glu460Lys)
c.1036G>A (p.Glu346Lys)
n.1208G>A
c.1180G>A (p.Glu394Lys)
c.-4294965792G>A
c.1054G>A (p.Glu352Lys)
c.982G>A (p.Glu328Lys)
7g.140015733G>CCA369517319TBXAS1c.1237G>C (p.Glu413Gln)
c.*1026G>C (n.*1026G>C)
c.1375G>C (p.Glu459Gln)
c.1240G>C (p.Glu414Gln)
c.1378G>C (p.Glu460Gln)
c.1036G>C (p.Glu346Gln)
n.1208G>C
c.1180G>C (p.Glu394Gln)
c.-4294965792G>C
c.1054G>C (p.Glu352Gln)
c.982G>C (p.Glu328Gln)
 gnomAD v4
7g.140015733G>TCA369517320TBXAS1c.1237G>T (p.Glu413Ter)
c.*1026G>T (n.*1026G>T)
c.1375G>T (p.Glu459Ter)
c.1240G>T (p.Glu414Ter)
c.1378G>T (p.Glu460Ter)
c.1036G>T (p.Glu346Ter)
n.1208G>T
c.1180G>T (p.Glu394Ter)
c.-4294965792G>T
c.1054G>T (p.Glu352Ter)
c.982G>T (p.Glu328Ter)
7g.140015734A>CCA369517324TBXAS1c.1238A>C (p.Glu413Ala)
c.*1027A>C (n.*1027A>C)
c.1376A>C (p.Glu459Ala)
c.1241A>C (p.Glu414Ala)
c.1379A>C (p.Glu460Ala)
c.1037A>C (p.Glu346Ala)
n.1209A>C
c.1181A>C (p.Glu394Ala)
c.-4294965791A>C
c.1055A>C (p.Glu352Ala)
c.983A>C (p.Glu328Ala)
7g.140015734A>GCA369517326TBXAS1c.1238A>G (p.Glu413Gly)
c.*1027A>G (n.*1027A>G)
c.1376A>G (p.Glu459Gly)
c.1241A>G (p.Glu414Gly)
c.1379A>G (p.Glu460Gly)
c.1037A>G (p.Glu346Gly)
n.1209A>G
c.1181A>G (p.Glu394Gly)
c.-4294965791A>G
c.1055A>G (p.Glu352Gly)
c.983A>G (p.Glu328Gly)
7g.140015734A>TCA369517328TBXAS1c.1238A>T (p.Glu413Val)
c.*1027A>T (n.*1027A>T)
c.1376A>T (p.Glu459Val)
c.1241A>T (p.Glu414Val)
c.1379A>T (p.Glu460Val)
c.1037A>T (p.Glu346Val)
n.1209A>T
c.1181A>T (p.Glu394Val)
c.-4294965791A>T
c.1055A>T (p.Glu352Val)
c.983A>T (p.Glu328Val)
7g.140015734_140015735delinsAGCA1747365632TBXAS1c.1238_1239delinsAG (p.Glu413=)
c.*1027_*1028delinsAG (n.*1027_*1028delinsAG)
c.1376_1377delinsAG (p.Glu459=)
c.1241_1242delinsAG (p.Glu414=)
c.1379_1380delinsAG (p.Glu460=)
c.1037_1038delinsAG (p.Glu346=)
n.1209_1210delinsAG
c.1181_1182delinsAG (p.Glu394=)
c.-4294965791_-4294965790delinsAG
c.1055_1056delinsAG (p.Glu352=)
c.983_984delinsAG (p.Glu328=)
7g.140015735G>ACA457967844TBXAS1c.1239G>A (p.Glu413=)
c.*1028G>A (n.*1028G>A)
c.1377G>A (p.Glu459=)
c.1242G>A (p.Glu414=)
c.1380G>A (p.Glu460=)
c.1038G>A (p.Glu346=)
n.1210G>A
c.1182G>A (p.Glu394=)
c.-4294965790G>A
c.1056G>A (p.Glu352=)
c.984G>A (p.Glu328=)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
7g.140015735G>CCA369517330TBXAS1c.1239G>C (p.Glu413Asp)
c.*1028G>C (n.*1028G>C)
c.1377G>C (p.Glu459Asp)
c.1242G>C (p.Glu414Asp)
c.1380G>C (p.Glu460Asp)
c.1038G>C (p.Glu346Asp)
n.1210G>C
c.1182G>C (p.Glu394Asp)
c.-4294965790G>C
c.1056G>C (p.Glu352Asp)
c.984G>C (p.Glu328Asp)
7g.140015735G=CA1747365634TBXAS1c.1239G= (p.Glu413=)
c.*1028G= (n.*1028G=)
c.1377G= (p.Glu459=)
c.1242G= (p.Glu414=)
c.1380G= (p.Glu460=)
c.1038G= (p.Glu346=)
n.1210G=
c.1182G= (p.Glu394=)
c.-4294965790G=
c.1056G= (p.Glu352=)
c.984G= (p.Glu328=)
7g.140015735G>TCA369517333TBXAS1c.1239G>T (p.Glu413Asp)
c.*1028G>T (n.*1028G>T)
c.1377G>T (p.Glu459Asp)
c.1242G>T (p.Glu414Asp)
c.1380G>T (p.Glu460Asp)
c.1038G>T (p.Glu346Asp)
n.1210G>T
c.1182G>T (p.Glu394Asp)
c.-4294965790G>T
c.1056G>T (p.Glu352Asp)
c.984G>T (p.Glu328Asp)
7g.140015736delCA1747365633TBXAS1c.1240del (p.Ala414GlnfsTer18)
c.*1029del (n.*1029del)
c.1378del (p.Ala460GlnfsTer18)
c.1243del (p.Ala415GlnfsTer18)
c.1381del (p.Ala461GlnfsTer18)
c.1039del (p.Ala347GlnfsTer18)
n.1211del
c.1183del (p.Ala395GlnfsTer18)
c.-4294965789del
c.1057del (p.Ala353GlnfsTer18)
c.985del (p.Ala329GlnfsTer18)
 dbSNP
7g.140015736G>ACA369517340TBXAS1c.1240G>A (p.Ala414Thr)
c.*1029G>A (n.*1029G>A)
c.1378G>A (p.Ala460Thr)
c.1243G>A (p.Ala415Thr)
c.1381G>A (p.Ala461Thr)
c.1039G>A (p.Ala347Thr)
n.1211G>A
c.1183G>A (p.Ala395Thr)
c.-4294965789G>A
c.1057G>A (p.Ala353Thr)
c.985G>A (p.Ala329Thr)
7g.140015736G>CCA369517338TBXAS1c.1240G>C (p.Ala414Pro)
c.*1029G>C (n.*1029G>C)
c.1378G>C (p.Ala460Pro)
c.1243G>C (p.Ala415Pro)
c.1381G>C (p.Ala461Pro)
c.1039G>C (p.Ala347Pro)
n.1211G>C
c.1183G>C (p.Ala395Pro)
c.-4294965789G>C
c.1057G>C (p.Ala353Pro)
c.985G>C (p.Ala329Pro)
7g.140015736G>TCA369517336TBXAS1c.1240G>T (p.Ala414Ser)
c.*1029G>T (n.*1029G>T)
c.1378G>T (p.Ala460Ser)
c.1243G>T (p.Ala415Ser)
c.1381G>T (p.Ala461Ser)
c.1039G>T (p.Ala347Ser)
n.1211G>T
c.1183G>T (p.Ala395Ser)
c.-4294965789G>T
c.1057G>T (p.Ala353Ser)
c.985G>T (p.Ala329Ser)
 gnomAD v4
7g.140015737C>ACA369517342TBXAS1c.1241C>A (p.Ala414Glu)
c.*1030C>A (n.*1030C>A)
c.1379C>A (p.Ala460Glu)
c.1244C>A (p.Ala415Glu)
c.1382C>A (p.Ala461Glu)
c.1040C>A (p.Ala347Glu)
n.1212C>A
c.1184C>A (p.Ala395Glu)
c.-4294965788C>A
c.1058C>A (p.Ala353Glu)
c.986C>A (p.Ala329Glu)
7g.140015737C>GCA369517343TBXAS1c.1241C>G (p.Ala414Gly)
c.*1030C>G (n.*1030C>G)
c.1379C>G (p.Ala460Gly)
c.1244C>G (p.Ala415Gly)
c.1382C>G (p.Ala461Gly)
c.1040C>G (p.Ala347Gly)
n.1212C>G
c.1184C>G (p.Ala395Gly)
c.-4294965788C>G
c.1058C>G (p.Ala353Gly)
c.986C>G (p.Ala329Gly)
7g.140015737C>TCA369517345TBXAS1c.1241C>T (p.Ala414Val)
c.*1030C>T (n.*1030C>T)
c.1379C>T (p.Ala460Val)
c.1244C>T (p.Ala415Val)
c.1382C>T (p.Ala461Val)
c.1040C>T (p.Ala347Val)
n.1212C>T
c.1184C>T (p.Ala395Val)
c.-4294965788C>T
c.1058C>T (p.Ala353Val)
c.986C>T (p.Ala329Val)
7g.140015738A=CA1747365635TBXAS1c.1242A= (p.Ala414=)
c.*1031A= (n.*1031A=)
c.1380A= (p.Ala460=)
c.1245A= (p.Ala415=)
c.1383A= (p.Ala461=)
c.1041A= (p.Ala347=)
n.1213A=
c.1185A= (p.Ala395=)
c.-4294965787A=
c.1059A= (p.Ala353=)
c.987A= (p.Ala329=)
7g.140015738A>CCA457967846TBXAS1c.1242A>C (p.Ala414=)
c.*1031A>C (n.*1031A>C)
c.1380A>C (p.Ala460=)
c.1245A>C (p.Ala415=)
c.1383A>C (p.Ala461=)
c.1041A>C (p.Ala347=)
n.1213A>C
c.1185A>C (p.Ala395=)
c.-4294965787A>C
c.1059A>C (p.Ala353=)
c.987A>C (p.Ala329=)
 dbSNP gnomAD v4
7g.140015738A>GCA457967847TBXAS1c.1242A>G (p.Ala414=)
c.*1031A>G (n.*1031A>G)
c.1380A>G (p.Ala460=)
c.1245A>G (p.Ala415=)
c.1383A>G (p.Ala461=)
c.1041A>G (p.Ala347=)
n.1213A>G
c.1185A>G (p.Ala395=)
c.-4294965787A>G
c.1059A>G (p.Ala353=)
c.987A>G (p.Ala329=)
 gnomAD v4
7g.140015738A>TCA457967848TBXAS1c.1242A>T (p.Ala414=)
c.*1031A>T (n.*1031A>T)
c.1380A>T (p.Ala460=)
c.1245A>T (p.Ala415=)
c.1383A>T (p.Ala461=)
c.1041A>T (p.Ala347=)
n.1213A>T
c.1185A>T (p.Ala395=)
c.-4294965787A>T
c.1059A>T (p.Ala353=)
c.987A>T (p.Ala329=)
7g.140015739G>ACA4511962TBXAS1c.1243G>A (p.Ala415Thr)
c.*1032G>A (n.*1032G>A)
c.1381G>A (p.Ala461Thr)
c.1246G>A (p.Ala416Thr)
c.1384G>A (p.Ala462Thr)
c.1042G>A (p.Ala348Thr)
n.1214G>A
c.1186G>A (p.Ala396Thr)
c.-4294965786G>A
c.1060G>A (p.Ala354Thr)
c.988G>A (p.Ala330Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.140015739G>CCA369517348TBXAS1c.1243G>C (p.Ala415Pro)
c.*1032G>C (n.*1032G>C)
c.1381G>C (p.Ala461Pro)
c.1246G>C (p.Ala416Pro)
c.1384G>C (p.Ala462Pro)
c.1042G>C (p.Ala348Pro)
n.1214G>C
c.1186G>C (p.Ala396Pro)
c.-4294965786G>C
c.1060G>C (p.Ala354Pro)
c.988G>C (p.Ala330Pro)
7g.140015739G=CA1747365636TBXAS1c.1243G= (p.Ala415=)
c.*1032G= (n.*1032G=)
c.1381G= (p.Ala461=)
c.1246G= (p.Ala416=)
c.1384G= (p.Ala462=)
c.1042G= (p.Ala348=)
n.1214G=
c.1186G= (p.Ala396=)
c.-4294965786G=
c.1060G= (p.Ala354=)
c.988G= (p.Ala330=)
7g.140015739G>TCA369517349TBXAS1c.1243G>T (p.Ala415Ser)
c.*1032G>T (n.*1032G>T)
c.1381G>T (p.Ala461Ser)
c.1246G>T (p.Ala416Ser)
c.1384G>T (p.Ala462Ser)
c.1042G>T (p.Ala348Ser)
n.1214G>T
c.1186G>T (p.Ala396Ser)
c.-4294965786G>T
c.1060G>T (p.Ala354Ser)
c.988G>T (p.Ala330Ser)
 gnomAD v4
7g.140015740C>ACA369517350TBXAS1c.1244C>A (p.Ala415Asp)
c.*1033C>A (n.*1033C>A)
c.1382C>A (p.Ala461Asp)
c.1247C>A (p.Ala416Asp)
c.1385C>A (p.Ala462Asp)
c.1043C>A (p.Ala348Asp)
n.1215C>A
c.1187C>A (p.Ala396Asp)
c.-4294965785C>A
c.1061C>A (p.Ala354Asp)
c.989C>A (p.Ala330Asp)
7g.140015740C>GCA369517352TBXAS1c.1244C>G (p.Ala415Gly)
c.*1033C>G (n.*1033C>G)
c.1382C>G (p.Ala461Gly)
c.1247C>G (p.Ala416Gly)
c.1385C>G (p.Ala462Gly)
c.1043C>G (p.Ala348Gly)
n.1215C>G
c.1187C>G (p.Ala396Gly)
c.-4294965785C>G
c.1061C>G (p.Ala354Gly)
c.989C>G (p.Ala330Gly)
 COSMIC COSMIC
7g.140015740C>TCA369517354TBXAS1c.1244C>T (p.Ala415Val)
c.*1033C>T (n.*1033C>T)
c.1382C>T (p.Ala461Val)
c.1247C>T (p.Ala416Val)
c.1385C>T (p.Ala462Val)
c.1043C>T (p.Ala348Val)
n.1215C>T
c.1187C>T (p.Ala396Val)
c.-4294965785C>T
c.1061C>T (p.Ala354Val)
c.989C>T (p.Ala330Val)
7g.140015741T>ACA457967851TBXAS1c.1245T>A (p.Ala415=)
c.*1034T>A (n.*1034T>A)
c.1383T>A (p.Ala461=)
c.1248T>A (p.Ala416=)
c.1386T>A (p.Ala462=)
c.1044T>A (p.Ala348=)
n.1216T>A
c.1188T>A (p.Ala396=)
c.-4294965784T>A
c.1062T>A (p.Ala354=)
c.990T>A (p.Ala330=)
7g.140015741T>CCA457967852TBXAS1c.1245T>C (p.Ala415=)
c.*1034T>C (n.*1034T>C)
c.1383T>C (p.Ala461=)
c.1248T>C (p.Ala416=)
c.1386T>C (p.Ala462=)
c.1044T>C (p.Ala348=)
n.1216T>C
c.1188T>C (p.Ala396=)
c.-4294965784T>C
c.1062T>C (p.Ala354=)
c.990T>C (p.Ala330=)
 gnomAD v4
7g.140015741T>GCA457967853TBXAS1c.1245T>G (p.Ala415=)
c.*1034T>G (n.*1034T>G)
c.1383T>G (p.Ala461=)
c.1248T>G (p.Ala416=)
c.1386T>G (p.Ala462=)
c.1044T>G (p.Ala348=)
n.1216T>G
c.1188T>G (p.Ala396=)
c.-4294965784T>G
c.1062T>G (p.Ala354=)
c.990T>G (p.Ala330=)
7g.140015742C>ACA369517361TBXAS1c.1246C>A (p.Gln416Lys)
c.*1035C>A (n.*1035C>A)
c.1384C>A (p.Gln462Lys)
c.1249C>A (p.Gln417Lys)
c.1387C>A (p.Gln463Lys)
c.1045C>A (p.Gln349Lys)
n.1217C>A
c.1189C>A (p.Gln397Lys)
c.-4294965783C>A
c.1063C>A (p.Gln355Lys)
c.991C>A (p.Gln331Lys)
7g.140015742C=CA1747365637TBXAS1c.1246C= (p.Gln416=)
c.*1035C= (n.*1035C=)
c.1384C= (p.Gln462=)
c.1249C= (p.Gln417=)
c.1387C= (p.Gln463=)
c.1045C= (p.Gln349=)
n.1217C=
c.1189C= (p.Gln397=)
c.-4294965783C=
c.1063C= (p.Gln355=)
c.991C= (p.Gln331=)
7g.140015742C>GCA4511963TBXAS1c.1246C>G (p.Gln416Glu)
c.*1035C>G (n.*1035C>G)
c.1384C>G (p.Gln462Glu)
c.1249C>G (p.Gln417Glu)
c.1387C>G (p.Gln463Glu)
c.1045C>G (p.Gln349Glu)
n.1217C>G
c.1189C>G (p.Gln397Glu)
c.-4294965783C>G
c.1063C>G (p.Gln355Glu)
c.991C>G (p.Gln331Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.140015742C>TCA369517367TBXAS1c.1246C>T (p.Gln416Ter)
c.*1035C>T (n.*1035C>T)
c.1384C>T (p.Gln462Ter)
c.1249C>T (p.Gln417Ter)
c.1387C>T (p.Gln463Ter)
c.1045C>T (p.Gln349Ter)
n.1217C>T
c.1189C>T (p.Gln397Ter)
c.-4294965783C>T
c.1063C>T (p.Gln355Ter)
c.991C>T (p.Gln331Ter)
7g.140015743A>CCA369517372TBXAS1c.1247A>C (p.Gln416Pro)
c.*1036A>C (n.*1036A>C)
c.1385A>C (p.Gln462Pro)
c.1250A>C (p.Gln417Pro)
c.1388A>C (p.Gln463Pro)
c.1046A>C (p.Gln349Pro)
n.1218A>C
c.1190A>C (p.Gln397Pro)
c.-4294965782A>C
c.1064A>C (p.Gln355Pro)
c.992A>C (p.Gln331Pro)
7g.140015743A>GCA369517370TBXAS1c.1247A>G (p.Gln416Arg)
c.*1036A>G (n.*1036A>G)
c.1385A>G (p.Gln462Arg)
c.1250A>G (p.Gln417Arg)
c.1388A>G (p.Gln463Arg)
c.1046A>G (p.Gln349Arg)
n.1218A>G
c.1190A>G (p.Gln397Arg)
c.-4294965782A>G
c.1064A>G (p.Gln355Arg)
c.992A>G (p.Gln331Arg)
 COSMIC COSMIC
7g.140015743A>TCA369517368TBXAS1c.1247A>T (p.Gln416Leu)
c.*1036A>T (n.*1036A>T)
c.1385A>T (p.Gln462Leu)
c.1250A>T (p.Gln417Leu)
c.1388A>T (p.Gln463Leu)
c.1046A>T (p.Gln349Leu)
n.1218A>T
c.1190A>T (p.Gln397Leu)
c.-4294965782A>T
c.1064A>T (p.Gln355Leu)
c.992A>T (p.Gln331Leu)
7g.140015744G>ACA457967855TBXAS1c.1248G>A (p.Gln416=)
c.*1037G>A (n.*1037G>A)
c.1386G>A (p.Gln462=)
c.1251G>A (p.Gln417=)
c.1389G>A (p.Gln463=)
c.1047G>A (p.Gln349=)
n.1219G>A
c.1191G>A (p.Gln397=)
c.-4294965781G>A
c.1065G>A (p.Gln355=)
c.993G>A (p.Gln331=)
7g.140015744G>CCA369517376TBXAS1c.1248G>C (p.Gln416His)
c.*1037G>C (n.*1037G>C)
c.1386G>C (p.Gln462His)
c.1251G>C (p.Gln417His)
c.1389G>C (p.Gln463His)
c.1047G>C (p.Gln349His)
n.1219G>C
c.1191G>C (p.Gln397His)
c.-4294965781G>C
c.1065G>C (p.Gln355His)
c.993G>C (p.Gln331His)
7g.140015744G>TCA369517378TBXAS1c.1248G>T (p.Gln416His)
c.*1037G>T (n.*1037G>T)
c.1386G>T (p.Gln462His)
c.1251G>T (p.Gln417His)
c.1389G>T (p.Gln463His)
c.1047G>T (p.Gln349His)
n.1219G>T
c.1191G>T (p.Gln397His)
c.-4294965781G>T
c.1065G>T (p.Gln355His)
c.993G>T (p.Gln331His)
7g.140015745G>ACA369517382TBXAS1c.1249G>A (p.Asp417Asn)
c.*1038G>A (n.*1038G>A)
c.1387G>A (p.Asp463Asn)
c.1252G>A (p.Asp418Asn)
c.1390G>A (p.Asp464Asn)
c.1048G>A (p.Asp350Asn)
n.1220G>A
c.1192G>A (p.Asp398Asn)
c.-4294965780G>A
c.1066G>A (p.Asp356Asn)
c.994G>A (p.Asp332Asn)
7g.140015745G>CCA369517384TBXAS1c.1249G>C (p.Asp417His)
c.*1038G>C (n.*1038G>C)
c.1387G>C (p.Asp463His)
c.1252G>C (p.Asp418His)
c.1390G>C (p.Asp464His)
c.1048G>C (p.Asp350His)
n.1220G>C
c.1192G>C (p.Asp398His)
c.-4294965780G>C
c.1066G>C (p.Asp356His)
c.994G>C (p.Asp332His)
7g.140015745G>TCA369517386TBXAS1c.1249G>T (p.Asp417Tyr)
c.*1038G>T (n.*1038G>T)
c.1387G>T (p.Asp463Tyr)
c.1252G>T (p.Asp418Tyr)
c.1390G>T (p.Asp464Tyr)
c.1048G>T (p.Asp350Tyr)
n.1220G>T
c.1192G>T (p.Asp398Tyr)
c.-4294965780G>T
c.1066G>T (p.Asp356Tyr)
c.994G>T (p.Asp332Tyr)
 gnomAD v4
7g.140015746A>CCA369517389TBXAS1c.1250A>C (p.Asp417Ala)
c.*1039A>C (n.*1039A>C)
c.1388A>C (p.Asp463Ala)
c.1253A>C (p.Asp418Ala)
c.1391A>C (p.Asp464Ala)
c.1049A>C (p.Asp350Ala)
n.1221A>C
c.1193A>C (p.Asp398Ala)
c.-4294965779A>C
c.1067A>C (p.Asp356Ala)
c.995A>C (p.Asp332Ala)
7g.140015746A>GCA369517391TBXAS1c.1250A>G (p.Asp417Gly)
c.*1039A>G (n.*1039A>G)
c.1388A>G (p.Asp463Gly)
c.1253A>G (p.Asp418Gly)
c.1391A>G (p.Asp464Gly)
c.1049A>G (p.Asp350Gly)
n.1221A>G
c.1193A>G (p.Asp398Gly)
c.-4294965779A>G
c.1067A>G (p.Asp356Gly)
c.995A>G (p.Asp332Gly)
7g.140015746A>TCA369517394TBXAS1c.1250A>T (p.Asp417Val)
c.*1039A>T (n.*1039A>T)
c.1388A>T (p.Asp463Val)
c.1253A>T (p.Asp418Val)
c.1391A>T (p.Asp464Val)
c.1049A>T (p.Asp350Val)
n.1221A>T
c.1193A>T (p.Asp398Val)
c.-4294965779A>T
c.1067A>T (p.Asp356Val)
c.995A>T (p.Asp332Val)
7g.140015747C>ACA369517395TBXAS1c.1251C>A (p.Asp417Glu)
c.*1040C>A (n.*1040C>A)
c.1389C>A (p.Asp463Glu)
c.1254C>A (p.Asp418Glu)
c.1392C>A (p.Asp464Glu)
c.1050C>A (p.Asp350Glu)
n.1222C>A
c.1194C>A (p.Asp398Glu)
c.-4294965778C>A
c.1068C>A (p.Asp356Glu)
c.996C>A (p.Asp332Glu)
 dbSNP gnomAD v4
7g.140015747C=CA1747365638TBXAS1c.1251C= (p.Asp417=)
c.*1040C= (n.*1040C=)
c.1389C= (p.Asp463=)
c.1254C= (p.Asp418=)
c.1392C= (p.Asp464=)
c.1050C= (p.Asp350=)
n.1222C=
c.1194C= (p.Asp398=)
c.-4294965778C=
c.1068C= (p.Asp356=)
c.996C= (p.Asp332=)
7g.140015747C>GCA369517396TBXAS1c.1251C>G (p.Asp417Glu)
c.*1040C>G (n.*1040C>G)
c.1389C>G (p.Asp463Glu)
c.1254C>G (p.Asp418Glu)
c.1392C>G (p.Asp464Glu)
c.1050C>G (p.Asp350Glu)
n.1222C>G
c.1194C>G (p.Asp398Glu)
c.-4294965778C>G
c.1068C>G (p.Asp356Glu)
c.996C>G (p.Asp332Glu)
7g.140015747C>TCA457967857TBXAS1c.1251C>T (p.Asp417=)
c.*1040C>T (n.*1040C>T)
c.1389C>T (p.Asp463=)
c.1254C>T (p.Asp418=)
c.1392C>T (p.Asp464=)
c.1050C>T (p.Asp350=)
n.1222C>T
c.1194C>T (p.Asp398=)
c.-4294965778C>T
c.1068C>T (p.Asp356=)
c.996C>T (p.Asp332=)
 dbSNP gnomAD v2
7g.140015748T>ACA369517404TBXAS1c.1252T>A (p.Cys418Ser)
c.*1041T>A (n.*1041T>A)
c.1390T>A (p.Cys464Ser)
c.1255T>A (p.Cys419Ser)
c.1393T>A (p.Cys465Ser)
c.1051T>A (p.Cys351Ser)
n.1223T>A
c.1195T>A (p.Cys399Ser)
c.-4294965777T>A
c.1069T>A (p.Cys357Ser)
c.997T>A (p.Cys333Ser)
7g.140015748T>CCA369517406TBXAS1c.1252T>C (p.Cys418Arg)
c.*1041T>C (n.*1041T>C)
c.1390T>C (p.Cys464Arg)
c.1255T>C (p.Cys419Arg)
c.1393T>C (p.Cys465Arg)
c.1051T>C (p.Cys351Arg)
n.1223T>C
c.1195T>C (p.Cys399Arg)
c.-4294965777T>C
c.1069T>C (p.Cys357Arg)
c.997T>C (p.Cys333Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.140015748T>GCA369517408TBXAS1c.1252T>G (p.Cys418Gly)
c.*1041T>G (n.*1041T>G)
c.1390T>G (p.Cys464Gly)
c.1255T>G (p.Cys419Gly)
c.1393T>G (p.Cys465Gly)
c.1051T>G (p.Cys351Gly)
n.1223T>G
c.1195T>G (p.Cys399Gly)
c.-4294965777T>G
c.1069T>G (p.Cys357Gly)
c.997T>G (p.Cys333Gly)
7g.140015748T=CA1747365639TBXAS1c.1252T= (p.Cys418=)
c.*1041T= (n.*1041T=)
c.1390T= (p.Cys464=)
c.1255T= (p.Cys419=)
c.1393T= (p.Cys465=)
c.1051T= (p.Cys351=)
n.1223T=
c.1195T= (p.Cys399=)
c.-4294965777T=
c.1069T= (p.Cys357=)
c.997T= (p.Cys333=)
7g.140015749G>ACA369517420TBXAS1c.1253G>A (p.Cys418Tyr)
c.*1042G>A (n.*1042G>A)
c.1391G>A (p.Cys464Tyr)
c.1256G>A (p.Cys419Tyr)
c.1394G>A (p.Cys465Tyr)
c.1052G>A (p.Cys351Tyr)
n.1224G>A
c.1196G>A (p.Cys399Tyr)
c.-4294965776G>A
c.1070G>A (p.Cys357Tyr)
c.998G>A (p.Cys333Tyr)
7g.140015749G>CCA369517413TBXAS1c.1253G>C (p.Cys418Ser)
c.*1042G>C (n.*1042G>C)
c.1391G>C (p.Cys464Ser)
c.1256G>C (p.Cys419Ser)
c.1394G>C (p.Cys465Ser)
c.1052G>C (p.Cys351Ser)
n.1224G>C
c.1196G>C (p.Cys399Ser)
c.-4294965776G>C
c.1070G>C (p.Cys357Ser)
c.998G>C (p.Cys333Ser)
7g.140015749G>TCA369517411TBXAS1c.1253G>T (p.Cys418Phe)
c.*1042G>T (n.*1042G>T)
c.1391G>T (p.Cys464Phe)
c.1256G>T (p.Cys419Phe)
c.1394G>T (p.Cys465Phe)
c.1052G>T (p.Cys351Phe)
n.1224G>T
c.1196G>T (p.Cys399Phe)
c.-4294965776G>T
c.1070G>T (p.Cys357Phe)
c.998G>T (p.Cys333Phe)
 gnomAD v4
7g.140015750C>ACA167959684TBXAS1c.1254C>A (p.Cys418Ter)
c.*1043C>A (n.*1043C>A)
c.1392C>A (p.Cys464Ter)
c.1257C>A (p.Cys419Ter)
c.1395C>A (p.Cys465Ter)
c.1053C>A (p.Cys351Ter)
n.1225C>A
c.1197C>A (p.Cys399Ter)
c.-4294965775C>A
c.1071C>A (p.Cys357Ter)
c.999C>A (p.Cys333Ter)
 dbSNP gnomAD v2
7g.140015750C=CA1747365640TBXAS1c.1254C= (p.Cys418=)
c.*1043C= (n.*1043C=)
c.1392C= (p.Cys464=)
c.1257C= (p.Cys419=)
c.1395C= (p.Cys465=)
c.1053C= (p.Cys351=)
n.1225C=
c.1197C= (p.Cys399=)
c.-4294965775C=
c.1071C= (p.Cys357=)
c.999C= (p.Cys333=)
7g.140015750C>GCA369517425TBXAS1c.1254C>G (p.Cys418Trp)
c.*1043C>G (n.*1043C>G)
c.1392C>G (p.Cys464Trp)
c.1257C>G (p.Cys419Trp)
c.1395C>G (p.Cys465Trp)
c.1053C>G (p.Cys351Trp)
n.1225C>G
c.1197C>G (p.Cys399Trp)
c.-4294965775C>G
c.1071C>G (p.Cys357Trp)
c.999C>G (p.Cys333Trp)
7g.140015750C>TCA4511964TBXAS1c.1254C>T (p.Cys418=)
c.*1043C>T (n.*1043C>T)
c.1392C>T (p.Cys464=)
c.1257C>T (p.Cys419=)
c.1395C>T (p.Cys465=)
c.1053C>T (p.Cys351=)
n.1225C>T
c.1197C>T (p.Cys399=)
c.-4294965775C>T
c.1071C>T (p.Cys357=)
c.999C>T (p.Cys333=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.140015751G>ACA4511965TBXAS1c.1255G>A (p.Glu419Lys)
c.*1044G>A (n.*1044G>A)
c.1393G>A (p.Glu465Lys)
c.1258G>A (p.Glu420Lys)
c.1396G>A (p.Glu466Lys)
c.1054G>A (p.Glu352Lys)
n.1226G>A
c.1198G>A (p.Glu400Lys)
c.-4294965774G>A
c.1072G>A (p.Glu358Lys)
c.1000G>A (p.Glu334Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.140015751G>CCA369517429TBXAS1c.1255G>C (p.Glu419Gln)
c.*1044G>C (n.*1044G>C)
c.1393G>C (p.Glu465Gln)
c.1258G>C (p.Glu420Gln)
c.1396G>C (p.Glu466Gln)
c.1054G>C (p.Glu352Gln)
n.1226G>C
c.1198G>C (p.Glu400Gln)
c.-4294965774G>C
c.1072G>C (p.Glu358Gln)
c.1000G>C (p.Glu334Gln)
7g.140015751G=CA1747365641TBXAS1c.1255G= (p.Glu419=)
c.*1044G= (n.*1044G=)
c.1393G= (p.Glu465=)
c.1258G= (p.Glu420=)
c.1396G= (p.Glu466=)
c.1054G= (p.Glu352=)
n.1226G=
c.1198G= (p.Glu400=)
c.-4294965774G=
c.1072G= (p.Glu358=)
c.1000G= (p.Glu334=)
7g.140015751G>TCA369517432TBXAS1c.1255G>T (p.Glu419Ter)
c.*1044G>T (n.*1044G>T)
c.1393G>T (p.Glu465Ter)
c.1258G>T (p.Glu420Ter)
c.1396G>T (p.Glu466Ter)
c.1054G>T (p.Glu352Ter)
n.1226G>T
c.1198G>T (p.Glu400Ter)
c.-4294965774G>T
c.1072G>T (p.Glu358Ter)
c.1000G>T (p.Glu334Ter)
7g.140015752A>CCA369517435TBXAS1c.1256A>C (p.Glu419Ala)
c.*1045A>C (n.*1045A>C)
c.1394A>C (p.Glu465Ala)
c.1259A>C (p.Glu420Ala)
c.1397A>C (p.Glu466Ala)
c.1055A>C (p.Glu352Ala)
n.1227A>C
c.1199A>C (p.Glu400Ala)
c.-4294965773A>C
c.1073A>C (p.Glu358Ala)
c.1001A>C (p.Glu334Ala)
7g.140015752A>GCA369517437TBXAS1c.1256A>G (p.Glu419Gly)
c.*1045A>G (n.*1045A>G)
c.1394A>G (p.Glu465Gly)
c.1259A>G (p.Glu420Gly)
c.1397A>G (p.Glu466Gly)
c.1055A>G (p.Glu352Gly)
n.1227A>G
c.1199A>G (p.Glu400Gly)
c.-4294965773A>G
c.1073A>G (p.Glu358Gly)
c.1001A>G (p.Glu334Gly)
7g.140015752A>TCA369517439TBXAS1c.1256A>T (p.Glu419Val)
c.*1045A>T (n.*1045A>T)
c.1394A>T (p.Glu465Val)
c.1259A>T (p.Glu420Val)
c.1397A>T (p.Glu466Val)
c.1055A>T (p.Glu352Val)
n.1227A>T
c.1199A>T (p.Glu400Val)
c.-4294965773A>T
c.1073A>T (p.Glu358Val)
c.1001A>T (p.Glu334Val)
7g.140015753G>ACA457967862TBXAS1c.1257G>A (p.Glu419=)
c.*1046G>A (n.*1046G>A)
c.1395G>A (p.Glu465=)
c.1260G>A (p.Glu420=)
c.1398G>A (p.Glu466=)
c.1056G>A (p.Glu352=)
n.1228G>A
c.1200G>A (p.Glu400=)
c.-4294965772G>A
c.1074G>A (p.Glu358=)
c.1002G>A (p.Glu334=)
7g.140015753G>CCA369517441TBXAS1c.1257G>C (p.Glu419Asp)
c.*1046G>C (n.*1046G>C)
c.1395G>C (p.Glu465Asp)
c.1260G>C (p.Glu420Asp)
c.1398G>C (p.Glu466Asp)
c.1056G>C (p.Glu352Asp)
n.1228G>C
c.1200G>C (p.Glu400Asp)
c.-4294965772G>C
c.1074G>C (p.Glu358Asp)
c.1002G>C (p.Glu334Asp)
7g.140015753G>TCA369517450TBXAS1c.1257G>T (p.Glu419Asp)
c.*1046G>T (n.*1046G>T)
c.1395G>T (p.Glu465Asp)
c.1260G>T (p.Glu420Asp)
c.1398G>T (p.Glu466Asp)
c.1056G>T (p.Glu352Asp)
n.1228G>T
c.1200G>T (p.Glu400Asp)
c.-4294965772G>T
c.1074G>T (p.Glu358Asp)
c.1002G>T (p.Glu334Asp)
7g.140015754G>ACA369517454TBXAS1c.1258G>A (p.Val420Met)
c.*1047G>A (n.*1047G>A)
c.1396G>A (p.Val466Met)
c.1261G>A (p.Val421Met)
c.1399G>A (p.Val467Met)
c.1057G>A (p.Val353Met)
n.1229G>A
c.1201G>A (p.Val401Met)
c.-4294965771G>A
c.1075G>A (p.Val359Met)
c.1003G>A (p.Val335Met)
7g.140015754G>CCA369517456TBXAS1c.1258G>C (p.Val420Leu)
c.*1047G>C (n.*1047G>C)
c.1396G>C (p.Val466Leu)
c.1261G>C (p.Val421Leu)
c.1399G>C (p.Val467Leu)
c.1057G>C (p.Val353Leu)
n.1229G>C
c.1201G>C (p.Val401Leu)
c.-4294965771G>C
c.1075G>C (p.Val359Leu)
c.1003G>C (p.Val335Leu)
 gnomAD v4
7g.140015754G>TCA369517458TBXAS1c.1258G>T (p.Val420Leu)
c.*1047G>T (n.*1047G>T)
c.1396G>T (p.Val466Leu)
c.1261G>T (p.Val421Leu)
c.1399G>T (p.Val467Leu)
c.1057G>T (p.Val353Leu)
n.1229G>T
c.1201G>T (p.Val401Leu)
c.-4294965771G>T
c.1075G>T (p.Val359Leu)
c.1003G>T (p.Val335Leu)
7g.140015755T>ACA369517464TBXAS1c.1259T>A (p.Val420Glu)
c.*1048T>A (n.*1048T>A)
c.1397T>A (p.Val466Glu)
c.1262T>A (p.Val421Glu)
c.1400T>A (p.Val467Glu)
c.1058T>A (p.Val353Glu)
n.1230T>A
c.1202T>A (p.Val401Glu)
c.-4294965770T>A
c.1076T>A (p.Val359Glu)
c.1004T>A (p.Val335Glu)
7g.140015755T>CCA369517465TBXAS1c.1259T>C (p.Val420Ala)
c.*1048T>C (n.*1048T>C)
c.1397T>C (p.Val466Ala)
c.1262T>C (p.Val421Ala)
c.1400T>C (p.Val467Ala)
c.1058T>C (p.Val353Ala)
n.1230T>C
c.1202T>C (p.Val401Ala)
c.-4294965770T>C
c.1076T>C (p.Val359Ala)
c.1004T>C (p.Val335Ala)
 gnomAD v4
7g.140015755T>GCA369517462TBXAS1c.1259T>G (p.Val420Gly)
c.*1048T>G (n.*1048T>G)
c.1397T>G (p.Val466Gly)
c.1262T>G (p.Val421Gly)
c.1400T>G (p.Val467Gly)
c.1058T>G (p.Val353Gly)
n.1230T>G
c.1202T>G (p.Val401Gly)
c.-4294965770T>G
c.1076T>G (p.Val359Gly)
c.1004T>G (p.Val335Gly)
7g.140015756G>ACA4511966TBXAS1c.1260G>A (p.Val420=)
c.*1049G>A (n.*1049G>A)
c.1398G>A (p.Val466=)
c.1263G>A (p.Val421=)
c.1401G>A (p.Val467=)
c.1059G>A (p.Val353=)
n.1231G>A
c.1203G>A (p.Val401=)
c.-4294965769G>A
c.1077G>A (p.Val359=)
c.1005G>A (p.Val335=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.140015756G>CCA457967867TBXAS1c.1260G>C (p.Val420=)
c.*1049G>C (n.*1049G>C)
c.1398G>C (p.Val466=)
c.1263G>C (p.Val421=)
c.1401G>C (p.Val467=)
c.1059G>C (p.Val353=)
n.1231G>C
c.1203G>C (p.Val401=)
c.-4294965769G>C
c.1077G>C (p.Val359=)
c.1005G>C (p.Val335=)
7g.140015756G=CA1747365642TBXAS1c.1260G= (p.Val420=)
c.*1049G= (n.*1049G=)
c.1398G= (p.Val466=)
c.1263G= (p.Val421=)
c.1401G= (p.Val467=)
c.1059G= (p.Val353=)
n.1231G=
c.1203G= (p.Val401=)
c.-4294965769G=
c.1077G= (p.Val359=)
c.1005G= (p.Val335=)
7g.140015756G>TCA457967866TBXAS1c.1260G>T (p.Val420=)
c.*1049G>T (n.*1049G>T)
c.1398G>T (p.Val466=)
c.1263G>T (p.Val421=)
c.1401G>T (p.Val467=)
c.1059G>T (p.Val353=)
n.1231G>T
c.1203G>T (p.Val401=)
c.-4294965769G>T
c.1077G>T (p.Val359=)
c.1005G>T (p.Val335=)
 gnomAD v4
7g.140015757C>ACA369517470TBXAS1c.1261C>A (p.Leu421Met)
c.*1050C>A (n.*1050C>A)
c.1399C>A (p.Leu467Met)
c.1264C>A (p.Leu422Met)
c.1402C>A (p.Leu468Met)
c.1060C>A (p.Leu354Met)
n.1232C>A
c.1204C>A (p.Leu402Met)
c.-4294965768C>A
c.1078C>A (p.Leu360Met)
c.1006C>A (p.Leu336Met)
7g.140015757C>GCA369517471TBXAS1c.1261C>G (p.Leu421Val)
c.*1050C>G (n.*1050C>G)
c.1399C>G (p.Leu467Val)
c.1264C>G (p.Leu422Val)
c.1402C>G (p.Leu468Val)
c.1060C>G (p.Leu354Val)
n.1232C>G
c.1204C>G (p.Leu402Val)
c.-4294965768C>G
c.1078C>G (p.Leu360Val)
c.1006C>G (p.Leu336Val)
7g.140015757C>TCA457967868TBXAS1c.1261C>T (p.Leu421=)
c.*1050C>T (n.*1050C>T)
c.1399C>T (p.Leu467=)
c.1264C>T (p.Leu422=)
c.1402C>T (p.Leu468=)
c.1060C>T (p.Leu354=)
n.1232C>T
c.1204C>T (p.Leu402=)
c.-4294965768C>T
c.1078C>T (p.Leu360=)
c.1006C>T (p.Leu336=)
7g.140015758T>ACA369517474TBXAS1c.1262T>A (p.Leu421Gln)
c.*1051T>A (n.*1051T>A)
c.1400T>A (p.Leu467Gln)
c.1265T>A (p.Leu422Gln)
c.1403T>A (p.Leu468Gln)
c.1061T>A (p.Leu354Gln)
n.1233T>A
c.1205T>A (p.Leu402Gln)
c.-4294965767T>A
c.1079T>A (p.Leu360Gln)
c.1007T>A (p.Leu336Gln)
7g.140015758T>CCA167959685TBXAS1c.1262T>C (p.Leu421Pro)
c.*1051T>C (n.*1051T>C)
c.1400T>C (p.Leu467Pro)
c.1265T>C (p.Leu422Pro)
c.1403T>C (p.Leu468Pro)
c.1061T>C (p.Leu354Pro)
n.1233T>C
c.1205T>C (p.Leu402Pro)
c.-4294965767T>C
c.1079T>C (p.Leu360Pro)
c.1007T>C (p.Leu336Pro)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.140015758T>GCA369517478TBXAS1c.1262T>G (p.Leu421Arg)
c.*1051T>G (n.*1051T>G)
c.1400T>G (p.Leu467Arg)
c.1265T>G (p.Leu422Arg)
c.1403T>G (p.Leu468Arg)
c.1061T>G (p.Leu354Arg)
n.1233T>G
c.1205T>G (p.Leu402Arg)
c.-4294965767T>G
c.1079T>G (p.Leu360Arg)
c.1007T>G (p.Leu336Arg)
7g.140015758T=CA1747365643TBXAS1c.1262T= (p.Leu421=)
c.*1051T= (n.*1051T=)
c.1400T= (p.Leu467=)
c.1265T= (p.Leu422=)
c.1403T= (p.Leu468=)
c.1061T= (p.Leu354=)
n.1233T=
c.1205T= (p.Leu402=)
c.-4294965767T=
c.1079T= (p.Leu360=)
c.1007T= (p.Leu336=)
7g.140015759G>ACA457967869TBXAS1c.1263G>A (p.Leu421=)
c.*1052G>A (n.*1052G>A)
c.1401G>A (p.Leu467=)
c.1266G>A (p.Leu422=)
c.1404G>A (p.Leu468=)
c.1062G>A (p.Leu354=)
n.1234G>A
c.1206G>A (p.Leu402=)
c.-4294965766G>A
c.1080G>A (p.Leu360=)
c.1008G>A (p.Leu336=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.140015759G>CCA457967870TBXAS1c.1263G>C (p.Leu421=)
c.*1052G>C (n.*1052G>C)
c.1401G>C (p.Leu467=)
c.1266G>C (p.Leu422=)
c.1404G>C (p.Leu468=)
c.1062G>C (p.Leu354=)
n.1234G>C
c.1206G>C (p.Leu402=)
c.-4294965766G>C
c.1080G>C (p.Leu360=)
c.1008G>C (p.Leu336=)
7g.140015759G=CA1747365644TBXAS1c.1263G= (p.Leu421=)
c.*1052G= (n.*1052G=)
c.1401G= (p.Leu467=)
c.1266G= (p.Leu422=)
c.1404G= (p.Leu468=)
c.1062G= (p.Leu354=)
n.1234G=
c.1206G= (p.Leu402=)
c.-4294965766G=
c.1080G= (p.Leu360=)
c.1008G= (p.Leu336=)
7g.140015759G>TCA457967871TBXAS1c.1263G>T (p.Leu421=)
c.*1052G>T (n.*1052G>T)
c.1401G>T (p.Leu467=)
c.1266G>T (p.Leu422=)
c.1404G>T (p.Leu468=)
c.1062G>T (p.Leu354=)
n.1234G>T
c.1206G>T (p.Leu402=)
c.-4294965766G>T
c.1080G>T (p.Leu360=)
c.1008G>T (p.Leu336=)
7g.140015760G>ACA167959686TBXAS1c.1264G>A (p.Gly422Arg)
c.*1053G>A (n.*1053G>A)
c.1402G>A (p.Gly468Arg)
c.1267G>A (p.Gly423Arg)
c.1405G>A (p.Gly469Arg)
c.1063G>A (p.Gly355Arg)
n.1235G>A
c.1207G>A (p.Gly403Arg)
c.-4294965765G>A
c.1081G>A (p.Gly361Arg)
c.1009G>A (p.Gly337Arg)
 dbSNP gnomAD v4
7g.140015760G>CCA369517482TBXAS1c.1264G>C (p.Gly422Arg)
c.*1053G>C (n.*1053G>C)
c.1402G>C (p.Gly468Arg)
c.1267G>C (p.Gly423Arg)
c.1405G>C (p.Gly469Arg)
c.1063G>C (p.Gly355Arg)
n.1235G>C
c.1207G>C (p.Gly403Arg)
c.-4294965765G>C
c.1081G>C (p.Gly361Arg)
c.1009G>C (p.Gly337Arg)
 COSMIC COSMIC
7g.140015760G=CA1747365645TBXAS1c.1264G= (p.Gly422=)
c.*1053G= (n.*1053G=)
c.1402G= (p.Gly468=)
c.1267G= (p.Gly423=)
c.1405G= (p.Gly469=)
c.1063G= (p.Gly355=)
n.1235G=
c.1207G= (p.Gly403=)
c.-4294965765G=
c.1081G= (p.Gly361=)
c.1009G= (p.Gly337=)
7g.140015760G>TCA369517483TBXAS1c.1264G>T (p.Gly422Trp)
c.*1053G>T (n.*1053G>T)
c.1402G>T (p.Gly468Trp)
c.1267G>T (p.Gly423Trp)
c.1405G>T (p.Gly469Trp)
c.1063G>T (p.Gly355Trp)
n.1235G>T
c.1207G>T (p.Gly403Trp)
c.-4294965765G>T
c.1081G>T (p.Gly361Trp)
c.1009G>T (p.Gly337Trp)
7g.140015761G>ACA369517485TBXAS1c.1265G>A (p.Gly422Glu)
c.*1054G>A (n.*1054G>A)
c.1403G>A (p.Gly468Glu)
c.1268G>A (p.Gly423Glu)
c.1406G>A (p.Gly469Glu)
c.1064G>A (p.Gly355Glu)
n.1236G>A
c.1208G>A (p.Gly403Glu)
c.-4294965764G>A
c.1082G>A (p.Gly361Glu)
c.1010G>A (p.Gly337Glu)
7g.140015761G>CCA369517487TBXAS1c.1265G>C (p.Gly422Ala)
c.*1054G>C (n.*1054G>C)
c.1403G>C (p.Gly468Ala)
c.1268G>C (p.Gly423Ala)
c.1406G>C (p.Gly469Ala)
c.1064G>C (p.Gly355Ala)
n.1236G>C
c.1208G>C (p.Gly403Ala)
c.-4294965764G>C
c.1082G>C (p.Gly361Ala)
c.1010G>C (p.Gly337Ala)
 dbSNP gnomAD v4
7g.140015761G=CA1747365646TBXAS1c.1265G= (p.Gly422=)
c.*1054G= (n.*1054G=)
c.1403G= (p.Gly468=)
c.1268G= (p.Gly423=)
c.1406G= (p.Gly469=)
c.1064G= (p.Gly355=)
n.1236G=
c.1208G= (p.Gly403=)
c.-4294965764G=
c.1082G= (p.Gly361=)
c.1010G= (p.Gly337=)
7g.140015761G>TCA369517488TBXAS1c.1265G>T (p.Gly422Val)
c.*1054G>T (n.*1054G>T)
c.1403G>T (p.Gly468Val)
c.1268G>T (p.Gly423Val)
c.1406G>T (p.Gly469Val)
c.1064G>T (p.Gly355Val)
n.1236G>T
c.1208G>T (p.Gly403Val)
c.-4294965764G>T
c.1082G>T (p.Gly361Val)
c.1010G>T (p.Gly337Val)
7g.140015762G>ACA457967875TBXAS1c.1266G>A (p.Gly422=)
c.*1055G>A (n.*1055G>A)
c.1404G>A (p.Gly468=)
c.1269G>A (p.Gly423=)
c.1407G>A (p.Gly469=)
c.1065G>A (p.Gly355=)
n.1237G>A
c.1209G>A (p.Gly403=)
c.-4294965763G>A
c.1083G>A (p.Gly361=)
c.1011G>A (p.Gly337=)
 gnomAD v4
7g.140015762G>CCA457967876TBXAS1c.1266G>C (p.Gly422=)
c.*1055G>C (n.*1055G>C)
c.1404G>C (p.Gly468=)
c.1269G>C (p.Gly423=)
c.1407G>C (p.Gly469=)
c.1065G>C (p.Gly355=)
n.1237G>C
c.1209G>C (p.Gly403=)
c.-4294965763G>C
c.1083G>C (p.Gly361=)
c.1011G>C (p.Gly337=)
7g.140015762G>TCA457967877TBXAS1c.1266G>T (p.Gly422=)
c.*1055G>T (n.*1055G>T)
c.1404G>T (p.Gly468=)
c.1269G>T (p.Gly423=)
c.1407G>T (p.Gly469=)
c.1065G>T (p.Gly355=)
n.1237G>T
c.1209G>T (p.Gly403=)
c.-4294965763G>T
c.1083G>T (p.Gly361=)
c.1011G>T (p.Gly337=)
 gnomAD v4
7g.140015764_140015782dupCA2685191484TBXAS1c.1268_1286dup (p.Val430AlafsTer18)
c.*1057_*1075dup (n.*1057_*1075dup)
c.1406_1424dup (p.Val476AlafsTer18)
c.1271_1289dup (p.Val431AlafsTer18)
c.1409_1427dup (p.Val477AlafsTer18)
c.1067_1085dup (p.Val363AlafsTer18)
n.1239_1257dup
c.1211_1229dup (p.Val411AlafsTer18)
c.-4294965761_-4294965743dup
c.1085_1103dup (p.Val369AlafsTer18)
c.1013_1031dup (p.Val345AlafsTer18)
 gnomAD v4
7g.140015763C>ACA369517495TBXAS1c.1267C>A (p.Gln423Lys)
c.*1056C>A (n.*1056C>A)
c.1405C>A (p.Gln469Lys)
c.1270C>A (p.Gln424Lys)
c.1408C>A (p.Gln470Lys)
c.1066C>A (p.Gln356Lys)
n.1238C>A
c.1210C>A (p.Gln404Lys)
c.-4294965762C>A
c.1084C>A (p.Gln362Lys)
c.1012C>A (p.Gln338Lys)
7g.140015763C=CA1747365647TBXAS1c.1267C= (p.Gln423=)
c.*1056C= (n.*1056C=)
c.1405C= (p.Gln469=)
c.1270C= (p.Gln424=)
c.1408C= (p.Gln470=)
c.1066C= (p.Gln356=)
n.1238C=
c.1210C= (p.Gln404=)
c.-4294965762C=
c.1084C= (p.Gln362=)
c.1012C= (p.Gln338=)
7g.140015763C>GCA369517491TBXAS1c.1267C>G (p.Gln423Glu)
c.*1056C>G (n.*1056C>G)
c.1405C>G (p.Gln469Glu)
c.1270C>G (p.Gln424Glu)
c.1408C>G (p.Gln470Glu)
c.1066C>G (p.Gln356Glu)
n.1238C>G
c.1210C>G (p.Gln404Glu)
c.-4294965762C>G
c.1084C>G (p.Gln362Glu)
c.1012C>G (p.Gln338Glu)
7g.140015763C>TCA369517493TBXAS1c.1267C>T (p.Gln423Ter)
c.*1056C>T (n.*1056C>T)
c.1405C>T (p.Gln469Ter)
c.1270C>T (p.Gln424Ter)
c.1408C>T (p.Gln470Ter)
c.1066C>T (p.Gln356Ter)
n.1238C>T
c.1210C>T (p.Gln404Ter)
c.-4294965762C>T
c.1084C>T (p.Gln362Ter)
c.1012C>T (p.Gln338Ter)
 dbSNP
7g.140015764A=CA1747365648TBXAS1c.1268A= (p.Gln423=)
c.*1057A= (n.*1057A=)
c.1406A= (p.Gln469=)
c.1271A= (p.Gln424=)
c.1409A= (p.Gln470=)
c.1067A= (p.Gln356=)
n.1239A=
c.1211A= (p.Gln404=)
c.-4294965761A=
c.1085A= (p.Gln362=)
c.1013A= (p.Gln338=)
7g.140015764A>CCA369517497TBXAS1c.1268A>C (p.Gln423Pro)
c.*1057A>C (n.*1057A>C)
c.1406A>C (p.Gln469Pro)
c.1271A>C (p.Gln424Pro)
c.1409A>C (p.Gln470Pro)
c.1067A>C (p.Gln356Pro)
n.1239A>C
c.1211A>C (p.Gln404Pro)
c.-4294965761A>C
c.1085A>C (p.Gln362Pro)
c.1013A>C (p.Gln338Pro)
 gnomAD v4
7g.140015764A>GCA369517499TBXAS1c.1268A>G (p.Gln423Arg)
c.*1057A>G (n.*1057A>G)
c.1406A>G (p.Gln469Arg)
c.1271A>G (p.Gln424Arg)
c.1409A>G (p.Gln470Arg)
c.1067A>G (p.Gln356Arg)
n.1239A>G
c.1211A>G (p.Gln404Arg)
c.-4294965761A>G
c.1085A>G (p.Gln362Arg)
c.1013A>G (p.Gln338Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.140015764A>TCA369517503TBXAS1c.1268A>T (p.Gln423Leu)
c.*1057A>T (n.*1057A>T)
c.1406A>T (p.Gln469Leu)
c.1271A>T (p.Gln424Leu)
c.1409A>T (p.Gln470Leu)
c.1067A>T (p.Gln356Leu)
n.1239A>T
c.1211A>T (p.Gln404Leu)
c.-4294965761A>T
c.1085A>T (p.Gln362Leu)
c.1013A>T (p.Gln338Leu)
7g.140015765G>ACA4511967TBXAS1c.1269G>A (p.Gln423=)
c.*1058G>A (n.*1058G>A)
c.1407G>A (p.Gln469=)
c.1272G>A (p.Gln424=)
c.1410G>A (p.Gln470=)
c.1068G>A (p.Gln356=)
n.1240G>A
c.1212G>A (p.Gln404=)
c.-4294965760G>A
c.1086G>A (p.Gln362=)
c.1014G>A (p.Gln338=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.140015765G>CCA369517511TBXAS1c.1269G>C (p.Gln423His)
c.*1058G>C (n.*1058G>C)
c.1407G>C (p.Gln469His)
c.1272G>C (p.Gln424His)
c.1410G>C (p.Gln470His)
c.1068G>C (p.Gln356His)
n.1240G>C
c.1212G>C (p.Gln404His)
c.-4294965760G>C
c.1086G>C (p.Gln362His)
c.1014G>C (p.Gln338His)
7g.140015765G=CA1747365649TBXAS1c.1269G= (p.Gln423=)
c.*1058G= (n.*1058G=)
c.1407G= (p.Gln469=)
c.1272G= (p.Gln424=)
c.1410G= (p.Gln470=)
c.1068G= (p.Gln356=)
n.1240G=
c.1212G= (p.Gln404=)
c.-4294965760G=
c.1086G= (p.Gln362=)
c.1014G= (p.Gln338=)
7g.140015765G>TCA369517514TBXAS1c.1269G>T (p.Gln423His)
c.*1058G>T (n.*1058G>T)
c.1407G>T (p.Gln469His)
c.1272G>T (p.Gln424His)
c.1410G>T (p.Gln470His)
c.1068G>T (p.Gln356His)
n.1240G>T
c.1212G>T (p.Gln404His)
c.-4294965760G>T
c.1086G>T (p.Gln362His)
c.1014G>T (p.Gln338His)
 gnomAD v4
7g.140015766C>ACA369517517TBXAS1c.1270C>A (p.Arg424Ser)
c.*1059C>A (n.*1059C>A)
c.1408C>A (p.Arg470Ser)
c.1273C>A (p.Arg425Ser)
c.1411C>A (p.Arg471Ser)
c.1069C>A (p.Arg357Ser)
n.1241C>A
c.1213C>A (p.Arg405Ser)
c.-4294965759C>A
c.1087C>A (p.Arg363Ser)
c.1015C>A (p.Arg339Ser)
7g.140015766C=CA1747365650TBXAS1c.1270C= (p.Arg424=)
c.*1059C= (n.*1059C=)
c.1408C= (p.Arg470=)
c.1273C= (p.Arg425=)
c.1411C= (p.Arg471=)
c.1069C= (p.Arg357=)
n.1241C=
c.1213C= (p.Arg405=)
c.-4294965759C=
c.1087C= (p.Arg363=)
c.1015C= (p.Arg339=)
7g.140015766C>GCA369517519TBXAS1c.1270C>G (p.Arg424Gly)
c.*1059C>G (n.*1059C>G)
c.1408C>G (p.Arg470Gly)
c.1273C>G (p.Arg425Gly)
c.1411C>G (p.Arg471Gly)
c.1069C>G (p.Arg357Gly)
n.1241C>G
c.1213C>G (p.Arg405Gly)
c.-4294965759C>G
c.1087C>G (p.Arg363Gly)
c.1015C>G (p.Arg339Gly)
7g.140015766C>TCA4511968TBXAS1c.1270C>T (p.Arg424Cys)
c.*1059C>T (n.*1059C>T)
c.1408C>T (p.Arg470Cys)
c.1273C>T (p.Arg425Cys)
c.1411C>T (p.Arg471Cys)
c.1069C>T (p.Arg357Cys)
n.1241C>T
c.1213C>T (p.Arg405Cys)
c.-4294965759C>T
c.1087C>T (p.Arg363Cys)
c.1015C>T (p.Arg339Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.140015767G>ACA4511969TBXAS1c.1271G>A (p.Arg424His)
c.*1060G>A (n.*1060G>A)
c.1409G>A (p.Arg470His)
c.1274G>A (p.Arg425His)
c.1412G>A (p.Arg471His)
c.1070G>A (p.Arg357His)
n.1242G>A
c.1214G>A (p.Arg405His)
c.-4294965758G>A
c.1088G>A (p.Arg363His)
c.1016G>A (p.Arg339His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
7g.140015767G>CCA369517535TBXAS1c.1271G>C (p.Arg424Pro)
c.*1060G>C (n.*1060G>C)
c.1409G>C (p.Arg470Pro)
c.1274G>C (p.Arg425Pro)
c.1412G>C (p.Arg471Pro)
c.1070G>C (p.Arg357Pro)
n.1242G>C
c.1214G>C (p.Arg405Pro)
c.-4294965758G>C
c.1088G>C (p.Arg363Pro)
c.1016G>C (p.Arg339Pro)
 dbSNP gnomAD v2 gnomAD v4
7g.140015767G=CA1747365651TBXAS1c.1271G= (p.Arg424=)
c.*1060G= (n.*1060G=)
c.1409G= (p.Arg470=)
c.1274G= (p.Arg425=)
c.1412G= (p.Arg471=)
c.1070G= (p.Arg357=)
n.1242G=
c.1214G= (p.Arg405=)
c.-4294965758G=
c.1088G= (p.Arg363=)
c.1016G= (p.Arg339=)
7g.140015767G>TCA369517536TBXAS1c.1271G>T (p.Arg424Leu)
c.*1060G>T (n.*1060G>T)
c.1409G>T (p.Arg470Leu)
c.1274G>T (p.Arg425Leu)
c.1412G>T (p.Arg471Leu)
c.1070G>T (p.Arg357Leu)
n.1242G>T
c.1214G>T (p.Arg405Leu)
c.-4294965758G>T
c.1088G>T (p.Arg363Leu)
c.1016G>T (p.Arg339Leu)
7g.140015768C>ACA457967881TBXAS1c.1272C>A (p.Arg424=)
c.*1061C>A (n.*1061C>A)
c.1410C>A (p.Arg470=)
c.1275C>A (p.Arg425=)
c.1413C>A (p.Arg471=)
c.1071C>A (p.Arg357=)
n.1243C>A
c.1215C>A (p.Arg405=)
c.-4294965757C>A
c.1089C>A (p.Arg363=)
c.1017C>A (p.Arg339=)
7g.140015768C>GCA457967882TBXAS1c.1272C>G (p.Arg424=)
c.*1061C>G (n.*1061C>G)
c.1410C>G (p.Arg470=)
c.1275C>G (p.Arg425=)
c.1413C>G (p.Arg471=)
c.1071C>G (p.Arg357=)
n.1243C>G
c.1215C>G (p.Arg405=)
c.-4294965757C>G
c.1089C>G (p.Arg363=)
c.1017C>G (p.Arg339=)
7g.140015768C>TCA457967884TBXAS1c.1272C>T (p.Arg424=)
c.*1061C>T (n.*1061C>T)
c.1410C>T (p.Arg470=)
c.1275C>T (p.Arg425=)
c.1413C>T (p.Arg471=)
c.1071C>T (p.Arg357=)
n.1243C>T
c.1215C>T (p.Arg405=)
c.-4294965757C>T
c.1089C>T (p.Arg363=)
c.1017C>T (p.Arg339=)
7g.140015769A=CA1747365652TBXAS1c.1273A= (p.Ile425=)
c.*1062A= (n.*1062A=)
c.1411A= (p.Ile471=)
c.1276A= (p.Ile426=)
c.1414A= (p.Ile472=)
c.1072A= (p.Ile358=)
n.1244A=
c.1216A= (p.Ile406=)
c.-4294965756A=
c.1090A= (p.Ile364=)
c.1018A= (p.Ile340=)
7g.140015769A>CCA369517541TBXAS1c.1273A>C (p.Ile425Leu)
c.*1062A>C (n.*1062A>C)
c.1411A>C (p.Ile471Leu)
c.1276A>C (p.Ile426Leu)
c.1414A>C (p.Ile472Leu)
c.1072A>C (p.Ile358Leu)
n.1244A>C
c.1216A>C (p.Ile406Leu)
c.-4294965756A>C
c.1090A>C (p.Ile364Leu)
c.1018A>C (p.Ile340Leu)
7g.140015769A>GCA167959687TBXAS1c.1273A>G (p.Ile425Val)
c.*1062A>G (n.*1062A>G)
c.1411A>G (p.Ile471Val)
c.1276A>G (p.Ile426Val)
c.1414A>G (p.Ile472Val)
c.1072A>G (p.Ile358Val)
n.1244A>G
c.1216A>G (p.Ile406Val)
c.-4294965756A>G
c.1090A>G (p.Ile364Val)
c.1018A>G (p.Ile340Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.140015769A>TCA369517539TBXAS1c.1273A>T (p.Ile425Phe)
c.*1062A>T (n.*1062A>T)
c.1411A>T (p.Ile471Phe)
c.1276A>T (p.Ile426Phe)
c.1414A>T (p.Ile472Phe)
c.1072A>T (p.Ile358Phe)
n.1244A>T
c.1216A>T (p.Ile406Phe)
c.-4294965756A>T
c.1090A>T (p.Ile364Phe)
c.1018A>T (p.Ile340Phe)
7g.140015770T>ACA369517560TBXAS1c.1274T>A (p.Ile425Asn)
c.*1063T>A (n.*1063T>A)
c.1412T>A (p.Ile471Asn)
c.1277T>A (p.Ile426Asn)
c.1415T>A (p.Ile472Asn)
c.1073T>A (p.Ile358Asn)
n.1245T>A
c.1217T>A (p.Ile406Asn)
c.-4294965755T>A
c.1091T>A (p.Ile364Asn)
c.1019T>A (p.Ile340Asn)
7g.140015770T>CCA369517550TBXAS1c.1274T>C (p.Ile425Thr)
c.*1063T>C (n.*1063T>C)
c.1412T>C (p.Ile471Thr)
c.1277T>C (p.Ile426Thr)
c.1415T>C (p.Ile472Thr)
c.1073T>C (p.Ile358Thr)
n.1245T>C
c.1217T>C (p.Ile406Thr)
c.-4294965755T>C
c.1091T>C (p.Ile364Thr)
c.1019T>C (p.Ile340Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.140015770T>GCA369517553TBXAS1c.1274T>G (p.Ile425Ser)
c.*1063T>G (n.*1063T>G)
c.1412T>G (p.Ile471Ser)
c.1277T>G (p.Ile426Ser)
c.1415T>G (p.Ile472Ser)
c.1073T>G (p.Ile358Ser)
n.1245T>G
c.1217T>G (p.Ile406Ser)
c.-4294965755T>G
c.1091T>G (p.Ile364Ser)
c.1019T>G (p.Ile340Ser)
7g.140015770T=CA1747365653TBXAS1c.1274T= (p.Ile425=)
c.*1063T= (n.*1063T=)
c.1412T= (p.Ile471=)
c.1277T= (p.Ile426=)
c.1415T= (p.Ile472=)
c.1073T= (p.Ile358=)
n.1245T=
c.1217T= (p.Ile406=)
c.-4294965755T=
c.1091T= (p.Ile364=)
c.1019T= (p.Ile340=)
7g.140015771C>ACA457967885TBXAS1c.1275C>A (p.Ile425=)
c.*1064C>A (n.*1064C>A)
c.1413C>A (p.Ile471=)
c.1278C>A (p.Ile426=)
c.1416C>A (p.Ile472=)
c.1074C>A (p.Ile358=)
n.1246C>A
c.1218C>A (p.Ile406=)
c.-4294965754C>A
c.1092C>A (p.Ile364=)
c.1020C>A (p.Ile340=)
 gnomAD v4
7g.140015771C>GCA369517565TBXAS1c.1275C>G (p.Ile425Met)
c.*1064C>G (n.*1064C>G)
c.1413C>G (p.Ile471Met)
c.1278C>G (p.Ile426Met)
c.1416C>G (p.Ile472Met)
c.1074C>G (p.Ile358Met)
n.1246C>G
c.1218C>G (p.Ile406Met)
c.-4294965754C>G
c.1092C>G (p.Ile364Met)
c.1020C>G (p.Ile340Met)
7g.140015771C>TCA457967886TBXAS1c.1275C>T (p.Ile425=)
c.*1064C>T (n.*1064C>T)
c.1413C>T (p.Ile471=)
c.1278C>T (p.Ile426=)
c.1416C>T (p.Ile472=)
c.1074C>T (p.Ile358=)
n.1246C>T
c.1218C>T (p.Ile406=)
c.-4294965754C>T
c.1092C>T (p.Ile364=)
c.1020C>T (p.Ile340=)
7g.140015774dupCA4511970TBXAS1c.1278dup (p.Ala427ArgfsTer15)
c.*1067dup (n.*1067dup)
c.1416dup (p.Ala473ArgfsTer15)
c.1281dup (p.Ala428ArgfsTer15)
c.1419dup (p.Ala474ArgfsTer15)
c.1077dup (p.Ala360ArgfsTer15)
n.1249dup
c.1221dup (p.Ala408ArgfsTer15)
c.-4294965751dup
c.1095dup (p.Ala366ArgfsTer15)
c.1023dup (p.Ala342ArgfsTer15)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.140015772C>ACA369517568TBXAS1c.1276C>A (p.Pro426Thr)
c.*1065C>A (n.*1065C>A)
c.1414C>A (p.Pro472Thr)
c.1279C>A (p.Pro427Thr)
c.1417C>A (p.Pro473Thr)
c.1075C>A (p.Pro359Thr)
n.1247C>A
c.1219C>A (p.Pro407Thr)
c.-4294965753C>A
c.1093C>A (p.Pro365Thr)
c.1021C>A (p.Pro341Thr)
7g.140015772C=CA1747365654TBXAS1c.1276C= (p.Pro426=)
c.*1065C= (n.*1065C=)
c.1414C= (p.Pro472=)
c.1279C= (p.Pro427=)
c.1417C= (p.Pro473=)
c.1075C= (p.Pro359=)
n.1247C=
c.1219C= (p.Pro407=)
c.-4294965753C=
c.1093C= (p.Pro365=)
c.1021C= (p.Pro341=)
7g.140015772C>GCA369517571TBXAS1c.1276C>G (p.Pro426Ala)
c.*1065C>G (n.*1065C>G)
c.1414C>G (p.Pro472Ala)
c.1279C>G (p.Pro427Ala)
c.1417C>G (p.Pro473Ala)
c.1075C>G (p.Pro359Ala)
n.1247C>G
c.1219C>G (p.Pro407Ala)
c.-4294965753C>G
c.1093C>G (p.Pro365Ala)
c.1021C>G (p.Pro341Ala)
7g.140015772C>TCA369517574TBXAS1c.1276C>T (p.Pro426Ser)
c.*1065C>T (n.*1065C>T)
c.1414C>T (p.Pro472Ser)
c.1279C>T (p.Pro427Ser)
c.1417C>T (p.Pro473Ser)
c.1075C>T (p.Pro359Ser)
n.1247C>T
c.1219C>T (p.Pro407Ser)
c.-4294965753C>T
c.1093C>T (p.Pro365Ser)
c.1021C>T (p.Pro341Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.140015773C>ACA369517579TBXAS1c.1277C>A (p.Pro426His)
c.*1066C>A (n.*1066C>A)
c.1415C>A (p.Pro472His)
c.1280C>A (p.Pro427His)
c.1418C>A (p.Pro473His)
c.1076C>A (p.Pro359His)
n.1248C>A
c.1220C>A (p.Pro407His)
c.-4294965752C>A
c.1094C>A (p.Pro365His)
c.1022C>A (p.Pro341His)
7g.140015773C>GCA369517586TBXAS1c.1277C>G (p.Pro426Arg)
c.*1066C>G (n.*1066C>G)
c.1415C>G (p.Pro472Arg)
c.1280C>G (p.Pro427Arg)
c.1418C>G (p.Pro473Arg)
c.1076C>G (p.Pro359Arg)
n.1248C>G
c.1220C>G (p.Pro407Arg)
c.-4294965752C>G
c.1094C>G (p.Pro365Arg)
c.1022C>G (p.Pro341Arg)
7g.140015773C>TCA369517581TBXAS1c.1277C>T (p.Pro426Leu)
c.*1066C>T (n.*1066C>T)
c.1415C>T (p.Pro472Leu)
c.1280C>T (p.Pro427Leu)
c.1418C>T (p.Pro473Leu)
c.1076C>T (p.Pro359Leu)
n.1248C>T
c.1220C>T (p.Pro407Leu)
c.-4294965752C>T
c.1094C>T (p.Pro365Leu)
c.1022C>T (p.Pro341Leu)
 gnomAD v4
7g.140015774C>ACA457967887TBXAS1c.1278C>A (p.Pro426=)
c.*1067C>A (n.*1067C>A)
c.1416C>A (p.Pro472=)
c.1281C>A (p.Pro427=)
c.1419C>A (p.Pro473=)
c.1077C>A (p.Pro359=)
n.1249C>A
c.1221C>A (p.Pro407=)
c.-4294965751C>A
c.1095C>A (p.Pro365=)
c.1023C>A (p.Pro341=)
7g.140015774C=CA1747365655TBXAS1c.1278C= (p.Pro426=)
c.*1067C= (n.*1067C=)
c.1416C= (p.Pro472=)
c.1281C= (p.Pro427=)
c.1419C= (p.Pro473=)
c.1077C= (p.Pro359=)
n.1249C=
c.1221C= (p.Pro407=)
c.-4294965751C=
c.1095C= (p.Pro365=)
c.1023C= (p.Pro341=)
7g.140015774C>GCA457967888TBXAS1c.1278C>G (p.Pro426=)
c.*1067C>G (n.*1067C>G)
c.1416C>G (p.Pro472=)
c.1281C>G (p.Pro427=)
c.1419C>G (p.Pro473=)
c.1077C>G (p.Pro359=)
n.1249C>G
c.1221C>G (p.Pro407=)
c.-4294965751C>G
c.1095C>G (p.Pro365=)
c.1023C>G (p.Pro341=)
 dbSNP gnomAD v2 gnomAD v4
7g.140015774C>TCA4511971TBXAS1c.1278C>T (p.Pro426=)
c.*1067C>T (n.*1067C>T)
c.1416C>T (p.Pro472=)
c.1281C>T (p.Pro427=)
c.1419C>T (p.Pro473=)
c.1077C>T (p.Pro359=)
n.1249C>T
c.1221C>T (p.Pro407=)
c.-4294965751C>T
c.1095C>T (p.Pro365=)
c.1023C>T (p.Pro341=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.140015775G>ACA4511972TBXAS1c.1279G>A (p.Ala427Thr)
c.*1068G>A (n.*1068G>A)
c.1417G>A (p.Ala473Thr)
c.1282G>A (p.Ala428Thr)
c.1420G>A (p.Ala474Thr)
c.1078G>A (p.Ala360Thr)
n.1250G>A
c.1222G>A (p.Ala408Thr)
c.-4294965750G>A
c.1096G>A (p.Ala366Thr)
c.1024G>A (p.Ala342Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.140015775G>CCA369517598TBXAS1c.1279G>C (p.Ala427Pro)
c.*1068G>C (n.*1068G>C)
c.1417G>C (p.Ala473Pro)
c.1282G>C (p.Ala428Pro)
c.1420G>C (p.Ala474Pro)
c.1078G>C (p.Ala360Pro)
n.1250G>C
c.1222G>C (p.Ala408Pro)
c.-4294965750G>C
c.1096G>C (p.Ala366Pro)
c.1024G>C (p.Ala342Pro)
7g.140015775G=CA1747365656TBXAS1c.1279G= (p.Ala427=)
c.*1068G= (n.*1068G=)
c.1417G= (p.Ala473=)
c.1282G= (p.Ala428=)
c.1420G= (p.Ala474=)
c.1078G= (p.Ala360=)
n.1250G=
c.1222G= (p.Ala408=)
c.-4294965750G=
c.1096G= (p.Ala366=)
c.1024G= (p.Ala342=)
7g.140015775G>TCA369517601TBXAS1c.1279G>T (p.Ala427Ser)
c.*1068G>T (n.*1068G>T)
c.1417G>T (p.Ala473Ser)
c.1282G>T (p.Ala428Ser)
c.1420G>T (p.Ala474Ser)
c.1078G>T (p.Ala360Ser)
n.1250G>T
c.1222G>T (p.Ala408Ser)
c.-4294965750G>T
c.1096G>T (p.Ala366Ser)
c.1024G>T (p.Ala342Ser)
7g.140015776C>ACA369517622TBXAS1c.1280C>A (p.Ala427Glu)
c.*1069C>A (n.*1069C>A)
c.1418C>A (p.Ala473Glu)
c.1283C>A (p.Ala428Glu)
c.1421C>A (p.Ala474Glu)
c.1079C>A (p.Ala360Glu)
n.1251C>A
c.1223C>A (p.Ala408Glu)
c.-4294965749C>A
c.1097C>A (p.Ala366Glu)
c.1025C>A (p.Ala342Glu)
7g.140015776C=CA1747365657TBXAS1c.1280C= (p.Ala427=)
c.*1069C= (n.*1069C=)
c.1418C= (p.Ala473=)
c.1283C= (p.Ala428=)
c.1421C= (p.Ala474=)
c.1079C= (p.Ala360=)
n.1251C=
c.1223C= (p.Ala408=)
c.-4294965749C=
c.1097C= (p.Ala366=)
c.1025C= (p.Ala342=)
7g.140015776C>GCA369517605TBXAS1c.1280C>G (p.Ala427Gly)
c.*1069C>G (n.*1069C>G)
c.1418C>G (p.Ala473Gly)
c.1283C>G (p.Ala428Gly)
c.1421C>G (p.Ala474Gly)
c.1079C>G (p.Ala360Gly)
n.1251C>G
c.1223C>G (p.Ala408Gly)
c.-4294965749C>G
c.1097C>G (p.Ala366Gly)
c.1025C>G (p.Ala342Gly)
7g.140015776C>TCA369517618TBXAS1c.1280C>T (p.Ala427Val)
c.*1069C>T (n.*1069C>T)
c.1418C>T (p.Ala473Val)
c.1283C>T (p.Ala428Val)
c.1421C>T (p.Ala474Val)
c.1079C>T (p.Ala360Val)
n.1251C>T
c.1223C>T (p.Ala408Val)
c.-4294965749C>T
c.1097C>T (p.Ala366Val)
c.1025C>T (p.Ala342Val)
 dbSNP gnomAD v2 gnomAD v4
7g.140015777A>CCA457967893TBXAS1c.1281A>C (p.Ala427=)
c.*1070A>C (n.*1070A>C)
c.1419A>C (p.Ala473=)
c.1284A>C (p.Ala428=)
c.1422A>C (p.Ala474=)
c.1080A>C (p.Ala360=)
n.1252A>C
c.1224A>C (p.Ala408=)
c.-4294965748A>C
c.1098A>C (p.Ala366=)
c.1026A>C (p.Ala342=)
7g.140015777A>GCA457967894TBXAS1c.1281A>G (p.Ala427=)
c.*1070A>G (n.*1070A>G)
c.1419A>G (p.Ala473=)
c.1284A>G (p.Ala428=)
c.1422A>G (p.Ala474=)
c.1080A>G (p.Ala360=)
n.1252A>G
c.1224A>G (p.Ala408=)
c.-4294965748A>G
c.1098A>G (p.Ala366=)
c.1026A>G (p.Ala342=)
 gnomAD v4
7g.140015777A>TCA457967895TBXAS1c.1281A>T (p.Ala427=)
c.*1070A>T (n.*1070A>T)
c.1419A>T (p.Ala473=)
c.1284A>T (p.Ala428=)
c.1422A>T (p.Ala474=)
c.1080A>T (p.Ala360=)
n.1252A>T
c.1224A>T (p.Ala408=)
c.-4294965748A>T
c.1098A>T (p.Ala366=)
c.1026A>T (p.Ala342=)
7g.140015778G>ACA369517626TBXAS1c.1282G>A (p.Gly428Ser)
c.*1071G>A (n.*1071G>A)
c.1420G>A (p.Gly474Ser)
c.1285G>A (p.Gly429Ser)
c.1423G>A (p.Gly475Ser)
c.1081G>A (p.Gly361Ser)
n.1253G>A
c.1225G>A (p.Gly409Ser)
c.-4294965747G>A
c.1099G>A (p.Gly367Ser)
c.1027G>A (p.Gly343Ser)
 ClinVar gnomAD v4
7g.140015778G>CCA369517629TBXAS1c.1282G>C (p.Gly428Arg)
c.*1071G>C (n.*1071G>C)
c.1420G>C (p.Gly474Arg)
c.1285G>C (p.Gly429Arg)
c.1423G>C (p.Gly475Arg)
c.1081G>C (p.Gly361Arg)
n.1253G>C
c.1225G>C (p.Gly409Arg)
c.-4294965747G>C
c.1099G>C (p.Gly367Arg)
c.1027G>C (p.Gly343Arg)
7g.140015778G>TCA369517630TBXAS1c.1282G>T (p.Gly428Cys)
c.*1071G>T (n.*1071G>T)
c.1420G>T (p.Gly474Cys)
c.1285G>T (p.Gly429Cys)
c.1423G>T (p.Gly475Cys)
c.1081G>T (p.Gly361Cys)
n.1253G>T
c.1225G>T (p.Gly409Cys)
c.-4294965747G>T
c.1099G>T (p.Gly367Cys)
c.1027G>T (p.Gly343Cys)
7g.140015779G>ACA369517634TBXAS1c.1283G>A (p.Gly428Asp)
c.*1072G>A (n.*1072G>A)
c.1421G>A (p.Gly474Asp)
c.1286G>A (p.Gly429Asp)
c.1424G>A (p.Gly475Asp)
c.1082G>A (p.Gly361Asp)
n.1254G>A
c.1226G>A (p.Gly409Asp)
c.-4294965746G>A
c.1100G>A (p.Gly367Asp)
c.1028G>A (p.Gly343Asp)
 gnomAD v4 COSMIC COSMIC
7g.140015779G>CCA369517636TBXAS1c.1283G>C (p.Gly428Ala)
c.*1072G>C (n.*1072G>C)
c.1421G>C (p.Gly474Ala)
c.1286G>C (p.Gly429Ala)
c.1424G>C (p.Gly475Ala)
c.1082G>C (p.Gly361Ala)
n.1254G>C
c.1226G>C (p.Gly409Ala)
c.-4294965746G>C
c.1100G>C (p.Gly367Ala)
c.1028G>C (p.Gly343Ala)
7g.140015779G>TCA369517639TBXAS1c.1283G>T (p.Gly428Val)
c.*1072G>T (n.*1072G>T)
c.1421G>T (p.Gly474Val)
c.1286G>T (p.Gly429Val)
c.1424G>T (p.Gly475Val)
c.1082G>T (p.Gly361Val)
n.1254G>T
c.1226G>T (p.Gly409Val)
c.-4294965746G>T
c.1100G>T (p.Gly367Val)
c.1028G>T (p.Gly343Val)
7g.140015780C>ACA457967897TBXAS1c.1284C>A (p.Gly428=)
c.*1073C>A (n.*1073C>A)
c.1422C>A (p.Gly474=)
c.1287C>A (p.Gly429=)
c.1425C>A (p.Gly475=)
c.1083C>A (p.Gly361=)
n.1255C>A
c.1227C>A (p.Gly409=)
c.-4294965745C>A
c.1101C>A (p.Gly367=)
c.1029C>A (p.Gly343=)
 gnomAD v4
7g.140015780C=CA1747365658TBXAS1c.1284C= (p.Gly428=)
c.*1073C= (n.*1073C=)
c.1422C= (p.Gly474=)
c.1287C= (p.Gly429=)
c.1425C= (p.Gly475=)
c.1083C= (p.Gly361=)
n.1255C=
c.1227C= (p.Gly409=)
c.-4294965745C=
c.1101C= (p.Gly367=)
c.1029C= (p.Gly343=)
7g.140015780C>GCA457967898TBXAS1c.1284C>G (p.Gly428=)
c.*1073C>G (n.*1073C>G)
c.1422C>G (p.Gly474=)
c.1287C>G (p.Gly429=)
c.1425C>G (p.Gly475=)
c.1083C>G (p.Gly361=)
n.1255C>G
c.1227C>G (p.Gly409=)
c.-4294965745C>G
c.1101C>G (p.Gly367=)
c.1029C>G (p.Gly343=)
7g.140015780C>TCA4511973TBXAS1c.1284C>T (p.Gly428=)
c.*1073C>T (n.*1073C>T)
c.1422C>T (p.Gly474=)
c.1287C>T (p.Gly429=)
c.1425C>T (p.Gly475=)
c.1083C>T (p.Gly361=)
n.1255C>T
c.1227C>T (p.Gly409=)
c.-4294965745C>T
c.1101C>T (p.Gly367=)
c.1029C>T (p.Gly343=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.140015781G>ACA4511974TBXAS1c.1285G>A (p.Ala429Thr)
c.*1074G>A (n.*1074G>A)
c.1423G>A (p.Ala475Thr)
c.1288G>A (p.Ala430Thr)
c.1426G>A (p.Ala476Thr)
c.1084G>A (p.Ala362Thr)
n.1256G>A
c.1228G>A (p.Ala410Thr)
c.-4294965744G>A
c.1102G>A (p.Ala368Thr)
c.1030G>A (p.Ala344Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.140015781G>CCA369517645TBXAS1c.1285G>C (p.Ala429Pro)
c.*1074G>C (n.*1074G>C)
c.1423G>C (p.Ala475Pro)
c.1288G>C (p.Ala430Pro)
c.1426G>C (p.Ala476Pro)
c.1084G>C (p.Ala362Pro)
n.1256G>C
c.1228G>C (p.Ala410Pro)
c.-4294965744G>C
c.1102G>C (p.Ala368Pro)
c.1030G>C (p.Ala344Pro)
7g.140015781G=CA1747365659TBXAS1c.1285G= (p.Ala429=)
c.*1074G= (n.*1074G=)
c.1423G= (p.Ala475=)
c.1288G= (p.Ala430=)
c.1426G= (p.Ala476=)
c.1084G= (p.Ala362=)
n.1256G=
c.1228G= (p.Ala410=)
c.-4294965744G=
c.1102G= (p.Ala368=)
c.1030G= (p.Ala344=)
7g.140015781G>TCA369517647TBXAS1c.1285G>T (p.Ala429Ser)
c.*1074G>T (n.*1074G>T)
c.1423G>T (p.Ala475Ser)
c.1288G>T (p.Ala430Ser)
c.1426G>T (p.Ala476Ser)
c.1084G>T (p.Ala362Ser)
n.1256G>T
c.1228G>T (p.Ala410Ser)
c.-4294965744G>T
c.1102G>T (p.Ala368Ser)
c.1030G>T (p.Ala344Ser)
 gnomAD v4
7g.140015782C>ACA369517649TBXAS1c.1286C>A (p.Ala429Asp)
c.*1075C>A (n.*1075C>A)
c.1424C>A (p.Ala475Asp)
c.1289C>A (p.Ala430Asp)
c.1427C>A (p.Ala476Asp)
c.1085C>A (p.Ala362Asp)
n.1257C>A
c.1229C>A (p.Ala410Asp)
c.-4294965743C>A
c.1103C>A (p.Ala368Asp)
c.1031C>A (p.Ala344Asp)
7g.140015782C>GCA369517650TBXAS1c.1286C>G (p.Ala429Gly)
c.*1075C>G (n.*1075C>G)
c.1424C>G (p.Ala475Gly)
c.1289C>G (p.Ala430Gly)
c.1427C>G (p.Ala476Gly)
c.1085C>G (p.Ala362Gly)
n.1257C>G
c.1229C>G (p.Ala410Gly)
c.-4294965743C>G
c.1103C>G (p.Ala368Gly)
c.1031C>G (p.Ala344Gly)
7g.140015782C>TCA369517651TBXAS1c.1286C>T (p.Ala429Val)
c.*1075C>T (n.*1075C>T)
c.1424C>T (p.Ala475Val)
c.1289C>T (p.Ala430Val)
c.1427C>T (p.Ala476Val)
c.1085C>T (p.Ala362Val)
n.1257C>T
c.1229C>T (p.Ala410Val)
c.-4294965743C>T
c.1103C>T (p.Ala368Val)
c.1031C>T (p.Ala344Val)
 gnomAD v4
7g.140015783T>ACA457967901TBXAS1c.1287T>A (p.Ala429=)
c.*1076T>A (n.*1076T>A)
c.1425T>A (p.Ala475=)
c.1290T>A (p.Ala430=)
c.1428T>A (p.Ala476=)
c.1086T>A (p.Ala362=)
n.1258T>A
c.1230T>A (p.Ala410=)
c.-4294965742T>A
c.1104T>A (p.Ala368=)
c.1032T>A (p.Ala344=)
7g.140015783T>CCA457967902TBXAS1c.1287T>C (p.Ala429=)
c.*1076T>C (n.*1076T>C)
c.1425T>C (p.Ala475=)
c.1290T>C (p.Ala430=)
c.1428T>C (p.Ala476=)
c.1086T>C (p.Ala362=)
n.1258T>C
c.1230T>C (p.Ala410=)
c.-4294965742T>C
c.1104T>C (p.Ala368=)
c.1032T>C (p.Ala344=)
 dbSNP
7g.140015783T>GCA457967903TBXAS1c.1287T>G (p.Ala429=)
c.*1076T>G (n.*1076T>G)
c.1425T>G (p.Ala475=)
c.1290T>G (p.Ala430=)
c.1428T>G (p.Ala476=)
c.1086T>G (p.Ala362=)
n.1258T>G
c.1230T>G (p.Ala410=)
c.-4294965742T>G
c.1104T>G (p.Ala368=)
c.1032T>G (p.Ala344=)
7g.140015783T=CA1747365660TBXAS1c.1287T= (p.Ala429=)
c.*1076T= (n.*1076T=)
c.1425T= (p.Ala475=)
c.1290T= (p.Ala430=)
c.1428T= (p.Ala476=)
c.1086T= (p.Ala362=)
n.1258T=
c.1230T= (p.Ala410=)
c.-4294965742T=
c.1104T= (p.Ala368=)
c.1032T= (p.Ala344=)
7g.140015784G>ACA167959688TBXAS1c.1288G>A (p.Val430Met)
c.*1077G>A (n.*1077G>A)
c.1426G>A (p.Val476Met)
c.1291G>A (p.Val431Met)
c.1429G>A (p.Val477Met)
c.1087G>A (p.Val363Met)
n.1259G>A
c.1231G>A (p.Val411Met)
c.-4294965741G>A
c.1105G>A (p.Val369Met)
c.1033G>A (p.Val345Met)
 dbSNP gnomAD v2 gnomAD v4
7g.140015784G>CCA369517653TBXAS1c.1288G>C (p.Val430Leu)
c.*1077G>C (n.*1077G>C)
c.1426G>C (p.Val476Leu)
c.1291G>C (p.Val431Leu)
c.1429G>C (p.Val477Leu)
c.1087G>C (p.Val363Leu)
n.1259G>C
c.1231G>C (p.Val411Leu)
c.-4294965741G>C
c.1105G>C (p.Val369Leu)
c.1033G>C (p.Val345Leu)
 gnomAD v4
7g.140015784G=CA1747365661TBXAS1c.1288G= (p.Val430=)
c.*1077G= (n.*1077G=)
c.1426G= (p.Val476=)
c.1291G= (p.Val431=)
c.1429G= (p.Val477=)
c.1087G= (p.Val363=)
n.1259G=
c.1231G= (p.Val411=)
c.-4294965741G=
c.1105G= (p.Val369=)
c.1033G= (p.Val345=)
7g.140015784G>TCA167959689TBXAS1c.1288G>T (p.Val430Leu)
c.*1077G>T (n.*1077G>T)
c.1426G>T (p.Val476Leu)
c.1291G>T (p.Val431Leu)
c.1429G>T (p.Val477Leu)
c.1087G>T (p.Val363Leu)
n.1259G>T
c.1231G>T (p.Val411Leu)
c.-4294965741G>T
c.1105G>T (p.Val369Leu)
c.1033G>T (p.Val345Leu)
 dbSNP
7g.140015785T>ACA369517658TBXAS1c.1289T>A (p.Val430Glu)
c.*1078T>A (n.*1078T>A)
c.1427T>A (p.Val476Glu)
c.1292T>A (p.Val431Glu)
c.1430T>A (p.Val477Glu)
c.1088T>A (p.Val363Glu)
n.1260T>A
c.1232T>A (p.Val411Glu)
c.-4294965740T>A
c.1106T>A (p.Val369Glu)
c.1034T>A (p.Val345Glu)
7g.140015785T>CCA4511975TBXAS1c.1289T>C (p.Val430Ala)
c.*1078T>C (n.*1078T>C)
c.1427T>C (p.Val476Ala)
c.1292T>C (p.Val431Ala)
c.1430T>C (p.Val477Ala)
c.1088T>C (p.Val363Ala)
n.1260T>C
c.1232T>C (p.Val411Ala)
c.-4294965740T>C
c.1106T>C (p.Val369Ala)
c.1034T>C (p.Val345Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.140015785T>GCA369517660TBXAS1c.1289T>G (p.Val430Gly)
c.*1078T>G (n.*1078T>G)
c.1427T>G (p.Val476Gly)
c.1292T>G (p.Val431Gly)
c.1430T>G (p.Val477Gly)
c.1088T>G (p.Val363Gly)
n.1260T>G
c.1232T>G (p.Val411Gly)
c.-4294965740T>G
c.1106T>G (p.Val369Gly)
c.1034T>G (p.Val345Gly)
7g.140015785T=CA1747365662TBXAS1c.1289T= (p.Val430=)
c.*1078T= (n.*1078T=)
c.1427T= (p.Val476=)
c.1292T= (p.Val431=)
c.1430T= (p.Val477=)
c.1088T= (p.Val363=)
n.1260T=
c.1232T= (p.Val411=)
c.-4294965740T=
c.1106T= (p.Val369=)
c.1034T= (p.Val345=)
7g.140015786G>ACA457967907TBXAS1c.1290G>A (p.Val430=)
c.*1079G>A (n.*1079G>A)
c.1428G>A (p.Val476=)
c.1293G>A (p.Val431=)
c.1431G>A (p.Val477=)
c.1089G>A (p.Val363=)
n.1261G>A
c.1233G>A (p.Val411=)
c.-4294965739G>A
c.1107G>A (p.Val369=)
c.1035G>A (p.Val345=)
7g.140015786G>CCA457967906TBXAS1c.1290G>C (p.Val430=)
c.*1079G>C (n.*1079G>C)
c.1428G>C (p.Val476=)
c.1293G>C (p.Val431=)
c.1431G>C (p.Val477=)
c.1089G>C (p.Val363=)
n.1261G>C
c.1233G>C (p.Val411=)
c.-4294965739G>C
c.1107G>C (p.Val369=)
c.1035G>C (p.Val345=)
7g.140015786G>TCA457967905TBXAS1c.1290G>T (p.Val430=)
c.*1079G>T (n.*1079G>T)
c.1428G>T (p.Val476=)
c.1293G>T (p.Val431=)
c.1431G>T (p.Val477=)
c.1089G>T (p.Val363=)
n.1261G>T
c.1233G>T (p.Val411=)
c.-4294965739G>T
c.1107G>T (p.Val369=)
c.1035G>T (p.Val345=)
7g.140015787C>ACA369517665TBXAS1c.1291C>A (p.Leu431Ile)
c.*1080C>A (n.*1080C>A)
c.1429C>A (p.Leu477Ile)
c.1294C>A (p.Leu432Ile)
c.1432C>A (p.Leu478Ile)
c.1090C>A (p.Leu364Ile)
n.1262C>A
c.1234C>A (p.Leu412Ile)
c.-4294965738C>A
c.1108C>A (p.Leu370Ile)
c.1036C>A (p.Leu346Ile)
7g.140015787C=CA1747365663TBXAS1c.1291C= (p.Leu431=)
c.*1080C= (n.*1080C=)
c.1429C= (p.Leu477=)
c.1294C= (p.Leu432=)
c.1432C= (p.Leu478=)
c.1090C= (p.Leu364=)
n.1262C=
c.1234C= (p.Leu412=)
c.-4294965738C=
c.1108C= (p.Leu370=)
c.1036C= (p.Leu346=)
7g.140015787C>GCA369517666TBXAS1c.1291C>G (p.Leu431Val)
c.*1080C>G (n.*1080C>G)
c.1429C>G (p.Leu477Val)
c.1294C>G (p.Leu432Val)
c.1432C>G (p.Leu478Val)
c.1090C>G (p.Leu364Val)
n.1262C>G
c.1234C>G (p.Leu412Val)
c.-4294965738C>G
c.1108C>G (p.Leu370Val)
c.1036C>G (p.Leu346Val)
7g.140015787C>TCA4511976TBXAS1c.1291C>T (p.Leu431=)
c.*1080C>T (n.*1080C>T)
c.1429C>T (p.Leu477=)
c.1294C>T (p.Leu432=)
c.1432C>T (p.Leu478=)
c.1090C>T (p.Leu364=)
n.1262C>T
c.1234C>T (p.Leu412=)
c.-4294965738C>T
c.1108C>T (p.Leu370=)
c.1036C>T (p.Leu346=)
 dbSNP ExAC gnomAD v2
7g.140015788T>ACA369517670TBXAS1c.1292T>A (p.Leu431Gln)
c.*1081T>A (n.*1081T>A)
c.1430T>A (p.Leu477Gln)
c.1295T>A (p.Leu432Gln)
c.1433T>A (p.Leu478Gln)
c.1091T>A (p.Leu364Gln)
n.1263T>A
c.1235T>A (p.Leu412Gln)
c.-4294965737T>A
c.1109T>A (p.Leu370Gln)
c.1037T>A (p.Leu346Gln)
7g.140015788T>CCA369517672TBXAS1c.1292T>C (p.Leu431Pro)
c.*1081T>C (n.*1081T>C)
c.1430T>C (p.Leu477Pro)
c.1295T>C (p.Leu432Pro)
c.1433T>C (p.Leu478Pro)
c.1091T>C (p.Leu364Pro)
n.1263T>C
c.1235T>C (p.Leu412Pro)
c.-4294965737T>C
c.1109T>C (p.Leu370Pro)
c.1037T>C (p.Leu346Pro)
7g.140015788T>GCA369517674TBXAS1c.1292T>G (p.Leu431Arg)
c.*1081T>G (n.*1081T>G)
c.1430T>G (p.Leu477Arg)
c.1295T>G (p.Leu432Arg)
c.1433T>G (p.Leu478Arg)
c.1091T>G (p.Leu364Arg)
n.1263T>G
c.1235T>G (p.Leu412Arg)
c.-4294965737T>G
c.1109T>G (p.Leu370Arg)
c.1037T>G (p.Leu346Arg)
7g.140015789A=CA1747365664TBXAS1c.1293A= (p.Leu431=)
c.*1082A= (n.*1082A=)
c.1431A= (p.Leu477=)
c.1296A= (p.Leu432=)
c.1434A= (p.Leu478=)
c.1092A= (p.Leu364=)
n.1264A=
c.1236A= (p.Leu412=)
c.-4294965736A=
c.1110A= (p.Leu370=)
c.1038A= (p.Leu346=)
7g.140015789A>CCA457967910TBXAS1c.1293A>C (p.Leu431=)
c.*1082A>C (n.*1082A>C)
c.1431A>C (p.Leu477=)
c.1296A>C (p.Leu432=)
c.1434A>C (p.Leu478=)
c.1092A>C (p.Leu364=)
n.1264A>C
c.1236A>C (p.Leu412=)
c.-4294965736A>C
c.1110A>C (p.Leu370=)
c.1038A>C (p.Leu346=)
 gnomAD v4
7g.140015789A>GCA457967911TBXAS1c.1293A>G (p.Leu431=)
c.*1082A>G (n.*1082A>G)
c.1431A>G (p.Leu477=)
c.1296A>G (p.Leu432=)
c.1434A>G (p.Leu478=)
c.1092A>G (p.Leu364=)
n.1264A>G
c.1236A>G (p.Leu412=)
c.-4294965736A>G
c.1110A>G (p.Leu370=)
c.1038A>G (p.Leu346=)
 dbSNP gnomAD v2 gnomAD v4
7g.140015789A>TCA457967912TBXAS1c.1293A>T (p.Leu431=)
c.*1082A>T (n.*1082A>T)
c.1431A>T (p.Leu477=)
c.1296A>T (p.Leu432=)
c.1434A>T (p.Leu478=)
c.1092A>T (p.Leu364=)
n.1264A>T
c.1236A>T (p.Leu412=)
c.-4294965736A>T
c.1110A>T (p.Leu370=)
c.1038A>T (p.Leu346=)
7g.140015790G>ACA369517676TBXAS1c.1294G>A (p.Glu432Lys)
c.*1083G>A (n.*1083G>A)
c.1432G>A (p.Glu478Lys)
c.1297G>A (p.Glu433Lys)
c.1435G>A (p.Glu479Lys)
c.1093G>A (p.Glu365Lys)
n.1265G>A
c.1237G>A (p.Glu413Lys)
c.-4294965735G>A
c.1111G>A (p.Glu371Lys)
c.1039G>A (p.Glu347Lys)
 gnomAD v4
7g.140015790G>CCA4511977TBXAS1c.1294G>C (p.Glu432Gln)
c.*1083G>C (n.*1083G>C)
c.1432G>C (p.Glu478Gln)
c.1297G>C (p.Glu433Gln)
c.1435G>C (p.Glu479Gln)
c.1093G>C (p.Glu365Gln)
n.1265G>C
c.1237G>C (p.Glu413Gln)
c.-4294965735G>C
c.1111G>C (p.Glu371Gln)
c.1039G>C (p.Glu347Gln)
 dbSNP ExAC gnomAD v4
7g.140015790G=CA1747365665TBXAS1c.1294G= (p.Glu432=)
c.*1083G= (n.*1083G=)
c.1432G= (p.Glu478=)
c.1297G= (p.Glu433=)
c.1435G= (p.Glu479=)
c.1093G= (p.Glu365=)
n.1265G=
c.1237G= (p.Glu413=)
c.-4294965735G=
c.1111G= (p.Glu371=)
c.1039G= (p.Glu347=)
7g.140015790G>TCA369517679TBXAS1c.1294G>T (p.Glu432Ter)
c.*1083G>T (n.*1083G>T)
c.1432G>T (p.Glu478Ter)
c.1297G>T (p.Glu433Ter)
c.1435G>T (p.Glu479Ter)
c.1093G>T (p.Glu365Ter)
n.1265G>T
c.1237G>T (p.Glu413Ter)
c.-4294965735G>T
c.1111G>T (p.Glu371Ter)
c.1039G>T (p.Glu347Ter)
7g.140015791A>CCA369517681TBXAS1c.1295A>C (p.Glu432Ala)
c.*1084A>C (n.*1084A>C)
c.1433A>C (p.Glu478Ala)
c.1298A>C (p.Glu433Ala)
c.1436A>C (p.Glu479Ala)
c.1094A>C (p.Glu365Ala)
n.1266A>C
c.1238A>C (p.Glu413Ala)
c.-4294965734A>C
c.1112A>C (p.Glu371Ala)
c.1040A>C (p.Glu347Ala)
7g.140015791A>GCA369517684TBXAS1c.1295A>G (p.Glu432Gly)
c.*1084A>G (n.*1084A>G)
c.1433A>G (p.Glu478Gly)
c.1298A>G (p.Glu433Gly)
c.1436A>G (p.Glu479Gly)
c.1094A>G (p.Glu365Gly)
n.1266A>G
c.1238A>G (p.Glu413Gly)
c.-4294965734A>G
c.1112A>G (p.Glu371Gly)
c.1040A>G (p.Glu347Gly)
7g.140015791A>TCA369517688TBXAS1c.1295A>T (p.Glu432Val)
c.*1084A>T (n.*1084A>T)
c.1433A>T (p.Glu478Val)
c.1298A>T (p.Glu433Val)
c.1436A>T (p.Glu479Val)
c.1094A>T (p.Glu365Val)
n.1266A>T
c.1238A>T (p.Glu413Val)
c.-4294965734A>T
c.1112A>T (p.Glu371Val)
c.1040A>T (p.Glu347Val)
7g.140015792G>ACA457967914TBXAS1c.1296G>A (p.Glu432=)
c.*1085G>A (n.*1085G>A)
c.1434G>A (p.Glu478=)
c.1299G>A (p.Glu433=)
c.1437G>A (p.Glu479=)
c.1095G>A (p.Glu365=)
n.1267G>A
c.1239G>A (p.Glu413=)
c.-4294965733G>A
c.1113G>A (p.Glu371=)
c.1041G>A (p.Glu347=)
 dbSNP
7g.140015792G>CCA369517692TBXAS1c.1296G>C (p.Glu432Asp)
c.*1085G>C (n.*1085G>C)
c.1434G>C (p.Glu478Asp)
c.1299G>C (p.Glu433Asp)
c.1437G>C (p.Glu479Asp)
c.1095G>C (p.Glu365Asp)
n.1267G>C
c.1239G>C (p.Glu413Asp)
c.-4294965733G>C
c.1113G>C (p.Glu371Asp)
c.1041G>C (p.Glu347Asp)
7g.140015792G=CA1747365666TBXAS1c.1296G= (p.Glu432=)
c.*1085G= (n.*1085G=)
c.1434G= (p.Glu478=)
c.1299G= (p.Glu433=)
c.1437G= (p.Glu479=)
c.1095G= (p.Glu365=)
n.1267G=
c.1239G= (p.Glu413=)
c.-4294965733G=
c.1113G= (p.Glu371=)
c.1041G= (p.Glu347=)
7g.140015792G>TCA369517694TBXAS1c.1296G>T (p.Glu432Asp)
c.*1085G>T (n.*1085G>T)
c.1434G>T (p.Glu478Asp)
c.1299G>T (p.Glu433Asp)
c.1437G>T (p.Glu479Asp)
c.1095G>T (p.Glu365Asp)
n.1267G>T
c.1239G>T (p.Glu413Asp)
c.-4294965733G>T
c.1113G>T (p.Glu371Asp)
c.1041G>T (p.Glu347Asp)
7g.140015793A=CA1747365667TBXAS1c.1297A= (p.Met433=)
c.*1086A= (n.*1086A=)
c.1435A= (p.Met479=)
c.1300A= (p.Met434=)
c.1438A= (p.Met480=)
c.1096A= (p.Met366=)
n.1268A=
c.1240A= (p.Met414=)
c.-4294965732A=
c.1114A= (p.Met372=)
c.1042A= (p.Met348=)
7g.140015793A>CCA369517700TBXAS1c.1297A>C (p.Met433Leu)
c.*1086A>C (n.*1086A>C)
c.1435A>C (p.Met479Leu)
c.1300A>C (p.Met434Leu)
c.1438A>C (p.Met480Leu)
c.1096A>C (p.Met366Leu)
n.1268A>C
c.1240A>C (p.Met414Leu)
c.-4294965732A>C
c.1114A>C (p.Met372Leu)
c.1042A>C (p.Met348Leu)
7g.140015793A>GCA4511978TBXAS1c.1297A>G (p.Met433Val)
c.*1086A>G (n.*1086A>G)
c.1435A>G (p.Met479Val)
c.1300A>G (p.Met434Val)
c.1438A>G (p.Met480Val)
c.1096A>G (p.Met366Val)
n.1268A>G
c.1240A>G (p.Met414Val)
c.-4294965732A>G
c.1114A>G (p.Met372Val)
c.1042A>G (p.Met348Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.140015793A>TCA369517704TBXAS1c.1297A>T (p.Met433Leu)
c.*1086A>T (n.*1086A>T)
c.1435A>T (p.Met479Leu)
c.1300A>T (p.Met434Leu)
c.1438A>T (p.Met480Leu)
c.1096A>T (p.Met366Leu)
n.1268A>T
c.1240A>T (p.Met414Leu)
c.-4294965732A>T
c.1114A>T (p.Met372Leu)
c.1042A>T (p.Met348Leu)
7g.140015794T>ACA369517707TBXAS1c.1298T>A (p.Met433Lys)
c.*1087T>A (n.*1087T>A)
c.1436T>A (p.Met479Lys)
c.1301T>A (p.Met434Lys)
c.1439T>A (p.Met480Lys)
c.1097T>A (p.Met366Lys)
n.1269T>A
c.1241T>A (p.Met414Lys)
c.-4294965731T>A
c.1115T>A (p.Met372Lys)
c.1043T>A (p.Met348Lys)
7g.140015794T>CCA369517709TBXAS1c.1298T>C (p.Met433Thr)
c.*1087T>C (n.*1087T>C)
c.1436T>C (p.Met479Thr)
c.1301T>C (p.Met434Thr)
c.1439T>C (p.Met480Thr)
c.1097T>C (p.Met366Thr)
n.1269T>C
c.1241T>C (p.Met414Thr)
c.-4294965731T>C
c.1115T>C (p.Met372Thr)
c.1043T>C (p.Met348Thr)
7g.140015794T>GCA369517712TBXAS1c.1298T>G (p.Met433Arg)
c.*1087T>G (n.*1087T>G)
c.1436T>G (p.Met479Arg)
c.1301T>G (p.Met434Arg)
c.1439T>G (p.Met480Arg)
c.1097T>G (p.Met366Arg)
n.1269T>G
c.1241T>G (p.Met414Arg)
c.-4294965731T>G
c.1115T>G (p.Met372Arg)
c.1043T>G (p.Met348Arg)
7g.140015795G>ACA369517714TBXAS1c.1299G>A (p.Met433Ile)
c.*1088G>A (n.*1088G>A)
c.1437G>A (p.Met479Ile)
c.1302G>A (p.Met434Ile)
c.1440G>A (p.Met480Ile)
c.1098G>A (p.Met366Ile)
n.1270G>A
c.1242G>A (p.Met414Ile)
c.-4294965730G>A
c.1116G>A (p.Met372Ile)
c.1044G>A (p.Met348Ile)
7g.140015795G>CCA369517716TBXAS1c.1299G>C (p.Met433Ile)
c.*1088G>C (n.*1088G>C)
c.1437G>C (p.Met479Ile)
c.1302G>C (p.Met434Ile)
c.1440G>C (p.Met480Ile)
c.1098G>C (p.Met366Ile)
n.1270G>C
c.1242G>C (p.Met414Ile)
c.-4294965730G>C
c.1116G>C (p.Met372Ile)
c.1044G>C (p.Met348Ile)
7g.140015795G>TCA369517719TBXAS1c.1299G>T (p.Met433Ile)
c.*1088G>T (n.*1088G>T)
c.1437G>T (p.Met479Ile)
c.1302G>T (p.Met434Ile)
c.1440G>T (p.Met480Ile)
c.1098G>T (p.Met366Ile)
n.1270G>T
c.1242G>T (p.Met414Ile)
c.-4294965730G>T
c.1116G>T (p.Met372Ile)
c.1044G>T (p.Met348Ile)
7g.140015796G>ACA369517722TBXAS1c.1300G>A (p.Ala434Thr)
c.*1089G>A (n.*1089G>A)
c.1438G>A (p.Ala480Thr)
c.1303G>A (p.Ala435Thr)
c.1441G>A (p.Ala481Thr)
c.1099G>A (p.Ala367Thr)
n.1271G>A
c.1243G>A (p.Ala415Thr)
c.-4294965729G>A
c.1117G>A (p.Ala373Thr)
c.1045G>A (p.Ala349Thr)
 gnomAD v4
7g.140015796G>CCA369517724TBXAS1c.1300G>C (p.Ala434Pro)
c.*1089G>C (n.*1089G>C)
c.1438G>C (p.Ala480Pro)
c.1303G>C (p.Ala435Pro)
c.1441G>C (p.Ala481Pro)
c.1099G>C (p.Ala367Pro)
n.1271G>C
c.1243G>C (p.Ala415Pro)
c.-4294965729G>C
c.1117G>C (p.Ala373Pro)
c.1045G>C (p.Ala349Pro)
7g.140015796G>TCA369517727TBXAS1c.1300G>T (p.Ala434Ser)
c.*1089G>T (n.*1089G>T)
c.1438G>T (p.Ala480Ser)
c.1303G>T (p.Ala435Ser)
c.1441G>T (p.Ala481Ser)
c.1099G>T (p.Ala367Ser)
n.1271G>T
c.1243G>T (p.Ala415Ser)
c.-4294965729G>T
c.1117G>T (p.Ala373Ser)
c.1045G>T (p.Ala349Ser)
 gnomAD v4
7g.140015797C>ACA369517734TBXAS1c.1301C>A (p.Ala434Asp)
c.*1090C>A (n.*1090C>A)
c.1439C>A (p.Ala480Asp)
c.1304C>A (p.Ala435Asp)
c.1442C>A (p.Ala481Asp)
c.1100C>A (p.Ala367Asp)
n.1272C>A
c.1244C>A (p.Ala415Asp)
c.-4294965728C>A
c.1118C>A (p.Ala373Asp)
c.1046C>A (p.Ala349Asp)
7g.140015797C=CA1747365668TBXAS1c.1301C= (p.Ala434=)
c.*1090C= (n.*1090C=)
c.1439C= (p.Ala480=)
c.1304C= (p.Ala435=)
c.1442C= (p.Ala481=)
c.1100C= (p.Ala367=)
n.1272C=
c.1244C= (p.Ala415=)
c.-4294965728C=
c.1118C= (p.Ala373=)
c.1046C= (p.Ala349=)
7g.140015797C>GCA369517730TBXAS1c.1301C>G (p.Ala434Gly)
c.*1090C>G (n.*1090C>G)
c.1439C>G (p.Ala480Gly)
c.1304C>G (p.Ala435Gly)
c.1442C>G (p.Ala481Gly)
c.1100C>G (p.Ala367Gly)
n.1272C>G
c.1244C>G (p.Ala415Gly)
c.-4294965728C>G
c.1118C>G (p.Ala373Gly)
c.1046C>G (p.Ala349Gly)
7g.140015797C>TCA167959690TBXAS1c.1301C>T (p.Ala434Val)
c.*1090C>T (n.*1090C>T)
c.1439C>T (p.Ala480Val)
c.1304C>T (p.Ala435Val)
c.1442C>T (p.Ala481Val)
c.1100C>T (p.Ala367Val)
n.1272C>T
c.1244C>T (p.Ala415Val)
c.-4294965728C>T
c.1118C>T (p.Ala373Val)
c.1046C>T (p.Ala349Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.140015798C>ACA457967919TBXAS1c.1302C>A (p.Ala434=)
c.*1091C>A (n.*1091C>A)
c.1440C>A (p.Ala480=)
c.1305C>A (p.Ala435=)
c.1443C>A (p.Ala481=)
c.1101C>A (p.Ala367=)
n.1273C>A
c.1245C>A (p.Ala415=)
c.-4294965727C>A
c.1119C>A (p.Ala373=)
c.1047C>A (p.Ala349=)
7g.140015798C=CA1747365669TBXAS1c.1302C= (p.Ala434=)
c.*1091C= (n.*1091C=)
c.1440C= (p.Ala480=)
c.1305C= (p.Ala435=)
c.1443C= (p.Ala481=)
c.1101C= (p.Ala367=)
n.1273C=
c.1245C= (p.Ala415=)
c.-4294965727C=
c.1119C= (p.Ala373=)
c.1047C= (p.Ala349=)
7g.140015798C>GCA457967920TBXAS1c.1302C>G (p.Ala434=)
c.*1091C>G (n.*1091C>G)
c.1440C>G (p.Ala480=)
c.1305C>G (p.Ala435=)
c.1443C>G (p.Ala481=)
c.1101C>G (p.Ala367=)
n.1273C>G
c.1245C>G (p.Ala415=)
c.-4294965727C>G
c.1119C>G (p.Ala373=)
c.1047C>G (p.Ala349=)
7g.140015798C>TCA4511979TBXAS1c.1302C>T (p.Ala434=)
c.*1091C>T (n.*1091C>T)
c.1440C>T (p.Ala480=)
c.1305C>T (p.Ala435=)
c.1443C>T (p.Ala481=)
c.1101C>T (p.Ala367=)
n.1273C>T
c.1245C>T (p.Ala415=)
c.-4294965727C>T
c.1119C>T (p.Ala373=)
c.1047C>T (p.Ala349=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.140015799G>ACA4511980TBXAS1c.1303G>A (p.Val435Met)
c.*1092G>A (n.*1092G>A)
c.1441G>A (p.Val481Met)
c.1306G>A (p.Val436Met)
c.1444G>A (p.Val482Met)
c.1102G>A (p.Val368Met)
n.1274G>A
c.1246G>A (p.Val416Met)
c.-4294965726G>A
c.1120G>A (p.Val374Met)
c.1048G>A (p.Val350Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.140015799G>CCA369517738TBXAS1c.1303G>C (p.Val435Leu)
c.*1092G>C (n.*1092G>C)
c.1441G>C (p.Val481Leu)
c.1306G>C (p.Val436Leu)
c.1444G>C (p.Val482Leu)
c.1102G>C (p.Val368Leu)
n.1274G>C
c.1246G>C (p.Val416Leu)
c.-4294965726G>C
c.1120G>C (p.Val374Leu)
c.1048G>C (p.Val350Leu)
7g.140015799G=CA1747365670TBXAS1c.1303G= (p.Val435=)
c.*1092G= (n.*1092G=)
c.1441G= (p.Val481=)
c.1306G= (p.Val436=)
c.1444G= (p.Val482=)
c.1102G= (p.Val368=)
n.1274G=
c.1246G= (p.Val416=)
c.-4294965726G=
c.1120G= (p.Val374=)
c.1048G= (p.Val350=)
7g.140015799G>TCA369517740TBXAS1c.1303G>T (p.Val435Leu)
c.*1092G>T (n.*1092G>T)
c.1441G>T (p.Val481Leu)
c.1306G>T (p.Val436Leu)
c.1444G>T (p.Val482Leu)
c.1102G>T (p.Val368Leu)
n.1274G>T
c.1246G>T (p.Val416Leu)
c.-4294965726G>T
c.1120G>T (p.Val374Leu)
c.1048G>T (p.Val350Leu)
7g.140015800T>ACA369517744TBXAS1c.1304T>A (p.Val435Glu)
c.*1093T>A (n.*1093T>A)
c.1442T>A (p.Val481Glu)
c.1307T>A (p.Val436Glu)
c.1445T>A (p.Val482Glu)
c.1103T>A (p.Val368Glu)
n.1275T>A
c.1247T>A (p.Val416Glu)
c.-4294965725T>A
c.1121T>A (p.Val374Glu)
c.1049T>A (p.Val350Glu)
7g.140015800T>CCA369517746TBXAS1c.1304T>C (p.Val435Ala)
c.*1093T>C (n.*1093T>C)
c.1442T>C (p.Val481Ala)
c.1307T>C (p.Val436Ala)
c.1445T>C (p.Val482Ala)
c.1103T>C (p.Val368Ala)
n.1275T>C
c.1247T>C (p.Val416Ala)
c.-4294965725T>C
c.1121T>C (p.Val374Ala)
c.1049T>C (p.Val350Ala)
 gnomAD v4
7g.140015800T>GCA369517747TBXAS1c.1304T>G (p.Val435Gly)
c.*1093T>G (n.*1093T>G)
c.1442T>G (p.Val481Gly)
c.1307T>G (p.Val436Gly)
c.1445T>G (p.Val482Gly)
c.1103T>G (p.Val368Gly)
n.1275T>G
c.1247T>G (p.Val416Gly)
c.-4294965725T>G
c.1121T>G (p.Val374Gly)
c.1049T>G (p.Val350Gly)
7g.140015801G>ACA457967925TBXAS1c.1305G>A (p.Val435=)
c.*1094G>A (n.*1094G>A)
c.1443G>A (p.Val481=)
c.1308G>A (p.Val436=)
c.1446G>A (p.Val482=)
c.1104G>A (p.Val368=)
n.1276G>A
c.1248G>A (p.Val416=)
c.-4294965724G>A
c.1122G>A (p.Val374=)
c.1050G>A (p.Val350=)
7g.140015801G>CCA457967926TBXAS1c.1305G>C (p.Val435=)
c.*1094G>C (n.*1094G>C)
c.1443G>C (p.Val481=)
c.1308G>C (p.Val436=)
c.1446G>C (p.Val482=)
c.1104G>C (p.Val368=)
n.1276G>C
c.1248G>C (p.Val416=)
c.-4294965724G>C
c.1122G>C (p.Val374=)
c.1050G>C (p.Val350=)
7g.140015801G>TCA457967923TBXAS1c.1305G>T (p.Val435=)
c.*1094G>T (n.*1094G>T)
c.1443G>T (p.Val481=)
c.1308G>T (p.Val436=)
c.1446G>T (p.Val482=)
c.1104G>T (p.Val368=)
n.1276G>T
c.1248G>T (p.Val416=)
c.-4294965724G>T
c.1122G>T (p.Val374=)
c.1050G>T (p.Val350=)
 gnomAD v4
7g.140015802G>ACA369517750TBXAS1c.1306G>A (p.Gly436Ser)
c.*1095G>A (n.*1095G>A)
c.1444G>A (p.Gly482Ser)
c.1309G>A (p.Gly437Ser)
c.1447G>A (p.Gly483Ser)
c.1105G>A (p.Gly369Ser)
n.1277G>A
c.1249G>A (p.Gly417Ser)
c.-4294965723G>A
c.1123G>A (p.Gly375Ser)
c.1051G>A (p.Gly351Ser)
 gnomAD v4
7g.140015802G>CCA369517752TBXAS1c.1306G>C (p.Gly436Arg)
c.*1095G>C (n.*1095G>C)
c.1444G>C (p.Gly482Arg)
c.1309G>C (p.Gly437Arg)
c.1447G>C (p.Gly483Arg)
c.1105G>C (p.Gly369Arg)
n.1277G>C
c.1249G>C (p.Gly417Arg)
c.-4294965723G>C
c.1123G>C (p.Gly375Arg)
c.1051G>C (p.Gly351Arg)
7g.140015802G=CA1747365671TBXAS1c.1306G= (p.Gly436=)
c.*1095G= (n.*1095G=)
c.1444G= (p.Gly482=)
c.1309G= (p.Gly437=)
c.1447G= (p.Gly483=)
c.1105G= (p.Gly369=)
n.1277G=
c.1249G= (p.Gly417=)
c.-4294965723G=
c.1123G= (p.Gly375=)
c.1051G= (p.Gly351=)
7g.140015802G>TCA167959691TBXAS1c.1306G>T (p.Gly436Cys)
c.*1095G>T (n.*1095G>T)
c.1444G>T (p.Gly482Cys)
c.1309G>T (p.Gly437Cys)
c.1447G>T (p.Gly483Cys)
c.1105G>T (p.Gly369Cys)
n.1277G>T
c.1249G>T (p.Gly417Cys)
c.-4294965723G>T
c.1123G>T (p.Gly375Cys)
c.1051G>T (p.Gly351Cys)
 dbSNP gnomAD v4
7g.140015803G>ACA369517763TBXAS1c.1307G>A (p.Gly436Asp)
c.*1096G>A (n.*1096G>A)
c.1445G>A (p.Gly482Asp)
c.1310G>A (p.Gly437Asp)
c.1448G>A (p.Gly483Asp)
c.1106G>A (p.Gly369Asp)
n.1278G>A
c.1250G>A (p.Gly417Asp)
c.-4294965722G>A
c.1124G>A (p.Gly375Asp)
c.1052G>A (p.Gly351Asp)
 dbSNP gnomAD v3 gnomAD v4
7g.140015803G>CCA369517765TBXAS1c.1307G>C (p.Gly436Ala)
c.*1096G>C (n.*1096G>C)
c.1445G>C (p.Gly482Ala)
c.1310G>C (p.Gly437Ala)
c.1448G>C (p.Gly483Ala)
c.1106G>C (p.Gly369Ala)
n.1278G>C
c.1250G>C (p.Gly417Ala)
c.-4294965722G>C
c.1124G>C (p.Gly375Ala)
c.1052G>C (p.Gly351Ala)
7g.140015803G=CA1747365672TBXAS1c.1307G= (p.Gly436=)
c.*1096G= (n.*1096G=)
c.1445G= (p.Gly482=)
c.1310G= (p.Gly437=)
c.1448G= (p.Gly483=)
c.1106G= (p.Gly369=)
n.1278G=
c.1250G= (p.Gly417=)
c.-4294965722G=
c.1124G= (p.Gly375=)
c.1052G= (p.Gly351=)
7g.140015803G>TCA369517768TBXAS1c.1307G>T (p.Gly436Val)
c.*1096G>T (n.*1096G>T)
c.1445G>T (p.Gly482Val)
c.1310G>T (p.Gly437Val)
c.1448G>T (p.Gly483Val)
c.1106G>T (p.Gly369Val)
n.1278G>T
c.1250G>T (p.Gly417Val)
c.-4294965722G>T
c.1124G>T (p.Gly375Val)
c.1052G>T (p.Gly351Val)
7g.140015804T>ACA457967928TBXAS1c.1308T>A (p.Gly436=)
c.*1097T>A (n.*1097T>A)
c.1446T>A (p.Gly482=)
c.1311T>A (p.Gly437=)
c.1449T>A (p.Gly483=)
c.1107T>A (p.Gly369=)
n.1279T>A
c.1251T>A (p.Gly417=)
c.-4294965721T>A
c.1125T>A (p.Gly375=)
c.1053T>A (p.Gly351=)
 dbSNP gnomAD v3 gnomAD v4
7g.140015804T>CCA457967929TBXAS1c.1308T>C (p.Gly436=)
c.*1097T>C (n.*1097T>C)
c.1446T>C (p.Gly482=)
c.1311T>C (p.Gly437=)
c.1449T>C (p.Gly483=)
c.1107T>C (p.Gly369=)
n.1279T>C
c.1251T>C (p.Gly417=)
c.-4294965721T>C
c.1125T>C (p.Gly375=)
c.1053T>C (p.Gly351=)
7g.140015804T>GCA457967930TBXAS1c.1308T>G (p.Gly436=)
c.*1097T>G (n.*1097T>G)
c.1446T>G (p.Gly482=)
c.1311T>G (p.Gly437=)
c.1449T>G (p.Gly483=)
c.1107T>G (p.Gly369=)
n.1279T>G
c.1251T>G (p.Gly417=)
c.-4294965721T>G
c.1125T>G (p.Gly375=)
c.1053T>G (p.Gly351=)
7g.140015804T=CA1747365673TBXAS1c.1308T= (p.Gly436=)
c.*1097T= (n.*1097T=)
c.1446T= (p.Gly482=)
c.1311T= (p.Gly437=)
c.1449T= (p.Gly483=)
c.1107T= (p.Gly369=)
n.1279T=
c.1251T= (p.Gly417=)
c.-4294965721T=
c.1125T= (p.Gly375=)
c.1053T= (p.Gly351=)
7g.140015805G>ACA369517774TBXAS1c.1309G>A (p.Ala437Thr)
c.*1098G>A (n.*1098G>A)
c.1447G>A (p.Ala483Thr)
c.1312G>A (p.Ala438Thr)
c.1450G>A (p.Ala484Thr)
c.1108G>A (p.Ala370Thr)
n.1280G>A
c.1252G>A (p.Ala418Thr)
c.-4294965720G>A
c.1126G>A (p.Ala376Thr)
c.1054G>A (p.Ala352Thr)
 dbSNP gnomAD v2 gnomAD v4
7g.140015805G>CCA369517772TBXAS1c.1309G>C (p.Ala437Pro)
c.*1098G>C (n.*1098G>C)
c.1447G>C (p.Ala483Pro)
c.1312G>C (p.Ala438Pro)
c.1450G>C (p.Ala484Pro)
c.1108G>C (p.Ala370Pro)
n.1280G>C
c.1252G>C (p.Ala418Pro)
c.-4294965720G>C
c.1126G>C (p.Ala376Pro)
c.1054G>C (p.Ala352Pro)
7g.140015805G=CA1747365675TBXAS1c.1309G= (p.Ala437=)
c.*1098G= (n.*1098G=)
c.1447G= (p.Ala483=)
c.1312G= (p.Ala438=)
c.1450G= (p.Ala484=)
c.1108G= (p.Ala370=)
n.1280G=
c.1252G= (p.Ala418=)
c.-4294965720G=
c.1126G= (p.Ala376=)
c.1054G= (p.Ala352=)
7g.140015805G>TCA369517771TBXAS1c.1309G>T (p.Ala437Ser)
c.*1098G>T (n.*1098G>T)
c.1447G>T (p.Ala483Ser)
c.1312G>T (p.Ala438Ser)
c.1450G>T (p.Ala484Ser)
c.1108G>T (p.Ala370Ser)
n.1280G>T
c.1252G>T (p.Ala418Ser)
c.-4294965720G>T
c.1126G>T (p.Ala376Ser)
c.1054G>T (p.Ala352Ser)
7g.140015805_140015812delinsGCCCTGCACA1747365674TBXAS1c.1309_1316delinsGCCCTGCA (p.Ala437=)
c.*1098_*1105delinsGCCCTGCA (n.*1098_*1105delinsGCCCTGCA)
c.1447_1454delinsGCCCTGCA (p.Ala483=)
c.1312_1319delinsGCCCTGCA (p.Ala438=)
c.1450_1457delinsGCCCTGCA (p.Ala484=)
c.1108_1115delinsGCCCTGCA (p.Ala370=)
n.1280_1287delinsGCCCTGCA
c.1252_1259delinsGCCCTGCA (p.Ala418=)
c.-4294965720_-4294965713delinsGCCCTGCA
c.1126_1133delinsGCCCTGCA (p.Ala376=)
c.1054_1061delinsGCCCTGCA (p.Ala352=)
7g.140015806C>ACA369517777TBXAS1c.1310C>A (p.Ala437Asp)
c.*1099C>A (n.*1099C>A)
c.1448C>A (p.Ala483Asp)
c.1313C>A (p.Ala438Asp)
c.1451C>A (p.Ala484Asp)
c.1109C>A (p.Ala370Asp)
n.1281C>A
c.1253C>A (p.Ala418Asp)
c.-4294965719C>A
c.1127C>A (p.Ala376Asp)
c.1055C>A (p.Ala352Asp)
 gnomAD v4
7g.140015806C=CA1747365676TBXAS1c.1310C= (p.Ala437=)
c.*1099C= (n.*1099C=)
c.1448C= (p.Ala483=)
c.1313C= (p.Ala438=)
c.1451C= (p.Ala484=)
c.1109C= (p.Ala370=)
n.1281C=
c.1253C= (p.Ala418=)
c.-4294965719C=
c.1127C= (p.Ala376=)
c.1055C= (p.Ala352=)
7g.140015806C>GCA369517780TBXAS1c.1310C>G (p.Ala437Gly)
c.*1099C>G (n.*1099C>G)
c.1448C>G (p.Ala483Gly)
c.1313C>G (p.Ala438Gly)
c.1451C>G (p.Ala484Gly)
c.1109C>G (p.Ala370Gly)
n.1281C>G
c.1253C>G (p.Ala418Gly)
c.-4294965719C>G
c.1127C>G (p.Ala376Gly)
c.1055C>G (p.Ala352Gly)
7g.140015806C>TCA4511982TBXAS1c.1310C>T (p.Ala437Val)
c.*1099C>T (n.*1099C>T)
c.1448C>T (p.Ala483Val)
c.1313C>T (p.Ala438Val)
c.1451C>T (p.Ala484Val)
c.1109C>T (p.Ala370Val)
n.1281C>T
c.1253C>T (p.Ala418Val)
c.-4294965719C>T
c.1127C>T (p.Ala376Val)
c.1055C>T (p.Ala352Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.140015808_140015814delCA4511981TBXAS1c.1312_1318del (p.Leu438MetfsTer?)
c.*1101_*1107del (n.*1101_*1107del)
c.1450_1456del (p.Leu484MetfsTer?)
c.1315_1321del (p.Leu439MetfsTer?)
c.1453_1459del (p.Leu485MetfsTer?)
c.1111_1117del (p.Leu371MetfsTer?)
n.1283_1289del
c.1255_1261del (p.Leu419MetfsTer?)
c.-4294965717_-4294965711del
c.1315_1321del (p.Leu439MetfsTer19)
c.1129_1135del (p.Leu377MetfsTer?)
c.1057_1063del (p.Leu353MetfsTer?)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.140015807C>ACA457967931TBXAS1c.1311C>A (p.Ala437=)
c.*1100C>A (n.*1100C>A)
c.1449C>A (p.Ala483=)
c.1314C>A (p.Ala438=)
c.1452C>A (p.Ala484=)
c.1110C>A (p.Ala370=)
n.1282C>A
c.1254C>A (p.Ala418=)
c.-4294965718C>A
c.1128C>A (p.Ala376=)
c.1056C>A (p.Ala352=)
7g.140015807C=CA1747365677TBXAS1c.1311C= (p.Ala437=)
c.*1100C= (n.*1100C=)
c.1449C= (p.Ala483=)
c.1314C= (p.Ala438=)
c.1452C= (p.Ala484=)
c.1110C= (p.Ala370=)
n.1282C=
c.1254C= (p.Ala418=)
c.-4294965718C=
c.1128C= (p.Ala376=)
c.1056C= (p.Ala352=)
7g.140015807C>GCA457967932TBXAS1c.1311C>G (p.Ala437=)
c.*1100C>G (n.*1100C>G)
c.1449C>G (p.Ala483=)
c.1314C>G (p.Ala438=)
c.1452C>G (p.Ala484=)
c.1110C>G (p.Ala370=)
n.1282C>G
c.1254C>G (p.Ala418=)
c.-4294965718C>G
c.1128C>G (p.Ala376=)
c.1056C>G (p.Ala352=)
 gnomAD v4
7g.140015807C>TCA4511983TBXAS1c.1311C>T (p.Ala437=)
c.*1100C>T (n.*1100C>T)
c.1449C>T (p.Ala483=)
c.1314C>T (p.Ala438=)
c.1452C>T (p.Ala484=)
c.1110C>T (p.Ala370=)
n.1282C>T
c.1254C>T (p.Ala418=)
c.-4294965718C>T
c.1128C>T (p.Ala376=)
c.1056C>T (p.Ala352=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.140015808C>ACA369517787TBXAS1c.1312C>A (p.Leu438Met)
c.*1101C>A (n.*1101C>A)
c.1450C>A (p.Leu484Met)
c.1315C>A (p.Leu439Met)
c.1453C>A (p.Leu485Met)
c.1111C>A (p.Leu371Met)
n.1283C>A
c.1255C>A (p.Leu419Met)
c.-4294965717C>A
c.1129C>A (p.Leu377Met)
c.1057C>A (p.Leu353Met)
7g.140015808C>GCA369517790TBXAS1c.1312C>G (p.Leu438Val)
c.*1101C>G (n.*1101C>G)
c.1450C>G (p.Leu484Val)
c.1315C>G (p.Leu439Val)
c.1453C>G (p.Leu485Val)
c.1111C>G (p.Leu371Val)
n.1283C>G
c.1255C>G (p.Leu419Val)
c.-4294965717C>G
c.1129C>G (p.Leu377Val)
c.1057C>G (p.Leu353Val)
7g.140015808C>TCA457967934TBXAS1c.1312C>T (p.Leu438=)
c.*1101C>T (n.*1101C>T)
c.1450C>T (p.Leu484=)
c.1315C>T (p.Leu439=)
c.1453C>T (p.Leu485=)
c.1111C>T (p.Leu371=)
n.1283C>T
c.1255C>T (p.Leu419=)
c.-4294965717C>T
c.1129C>T (p.Leu377=)
c.1057C>T (p.Leu353=)
7g.140015809T>ACA369517792TBXAS1c.1313T>A (p.Leu438Gln)
c.*1102T>A (n.*1102T>A)
c.1451T>A (p.Leu484Gln)
c.1316T>A (p.Leu439Gln)
c.1454T>A (p.Leu485Gln)
c.1112T>A (p.Leu371Gln)
n.1284T>A
c.1256T>A (p.Leu419Gln)
c.-4294965716T>A
c.1130T>A (p.Leu377Gln)
c.1058T>A (p.Leu353Gln)
7g.140015809T>CCA4511984TBXAS1c.1313T>C (p.Leu438Pro)
c.*1102T>C (n.*1102T>C)
c.1451T>C (p.Leu484Pro)
c.1316T>C (p.Leu439Pro)
c.1454T>C (p.Leu485Pro)
c.1112T>C (p.Leu371Pro)
n.1284T>C
c.1256T>C (p.Leu419Pro)
c.-4294965716T>C
c.1130T>C (p.Leu377Pro)
c.1058T>C (p.Leu353Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
7g.140015809T>GCA369517795TBXAS1c.1313T>G (p.Leu438Arg)
c.*1102T>G (n.*1102T>G)
c.1451T>G (p.Leu484Arg)
c.1316T>G (p.Leu439Arg)
c.1454T>G (p.Leu485Arg)
c.1112T>G (p.Leu371Arg)
n.1284T>G
c.1256T>G (p.Leu419Arg)
c.-4294965716T>G
c.1130T>G (p.Leu377Arg)
c.1058T>G (p.Leu353Arg)
7g.140015809T=CA1747365678TBXAS1c.1313T= (p.Leu438=)
c.*1102T= (n.*1102T=)
c.1451T= (p.Leu484=)
c.1316T= (p.Leu439=)
c.1454T= (p.Leu485=)
c.1112T= (p.Leu371=)
n.1284T=
c.1256T= (p.Leu419=)
c.-4294965716T=
c.1130T= (p.Leu377=)
c.1058T= (p.Leu353=)
7g.140015810G>ACA457967935TBXAS1c.1314G>A (p.Leu438=)
c.*1103G>A (n.*1103G>A)
c.1452G>A (p.Leu484=)
c.1317G>A (p.Leu439=)
c.1455G>A (p.Leu485=)
c.1113G>A (p.Leu371=)
n.1285G>A
c.1257G>A (p.Leu419=)
c.-4294965715G>A
c.1131G>A (p.Leu377=)
c.1059G>A (p.Leu353=)
 gnomAD v4
7g.140015810G>CCA457967936TBXAS1c.1314G>C (p.Leu438=)
c.*1103G>C (n.*1103G>C)
c.1452G>C (p.Leu484=)
c.1317G>C (p.Leu439=)
c.1455G>C (p.Leu485=)
c.1113G>C (p.Leu371=)
n.1285G>C
c.1257G>C (p.Leu419=)
c.-4294965715G>C
c.1131G>C (p.Leu377=)
c.1059G>C (p.Leu353=)
7g.140015810G>TCA457967937TBXAS1c.1314G>T (p.Leu438=)
c.*1103G>T (n.*1103G>T)
c.1452G>T (p.Leu484=)
c.1317G>T (p.Leu439=)
c.1455G>T (p.Leu485=)
c.1113G>T (p.Leu371=)
n.1285G>T
c.1257G>T (p.Leu419=)
c.-4294965715G>T
c.1131G>T (p.Leu377=)
c.1059G>T (p.Leu353=)
7g.140015811C>ACA369517798TBXAS1c.1315C>A (p.His439Asn)
c.*1104C>A (n.*1104C>A)
c.1453C>A (p.His485Asn)
c.1318C>A (p.His440Asn)
c.1456C>A (p.His486Asn)
c.1114C>A (p.His372Asn)
n.1286C>A
c.1258C>A (p.His420Asn)
c.-4294965714C>A
c.1132C>A (p.His378Asn)
c.1060C>A (p.His354Asn)
7g.140015811C=CA1747365679TBXAS1c.1315C= (p.His439=)
c.*1104C= (n.*1104C=)
c.1453C= (p.His485=)
c.1318C= (p.His440=)
c.1456C= (p.His486=)
c.1114C= (p.His372=)
n.1286C=
c.1258C= (p.His420=)
c.-4294965714C=
c.1132C= (p.His378=)
c.1060C= (p.His354=)
7g.140015811C>GCA369517801TBXAS1c.1315C>G (p.His439Asp)
c.*1104C>G (n.*1104C>G)
c.1453C>G (p.His485Asp)
c.1318C>G (p.His440Asp)
c.1456C>G (p.His486Asp)
c.1114C>G (p.His372Asp)
n.1286C>G
c.1258C>G (p.His420Asp)
c.-4294965714C>G
c.1132C>G (p.His378Asp)
c.1060C>G (p.His354Asp)
7g.140015811C>TCA369517803TBXAS1c.1315C>T (p.His439Tyr)
c.*1104C>T (n.*1104C>T)
c.1453C>T (p.His485Tyr)
c.1318C>T (p.His440Tyr)
c.1456C>T (p.His486Tyr)
c.1114C>T (p.His372Tyr)
n.1286C>T
c.1258C>T (p.His420Tyr)
c.-4294965714C>T
c.1132C>T (p.His378Tyr)
c.1060C>T (p.His354Tyr)
 dbSNP gnomAD v2 gnomAD v4
7g.140015812A>CCA369517811TBXAS1c.1316A>C (p.His439Pro)
c.*1105A>C (n.*1105A>C)
c.1454A>C (p.His485Pro)
c.1319A>C (p.His440Pro)
c.1457A>C (p.His486Pro)
c.1115A>C (p.His372Pro)
n.1287A>C
c.1259A>C (p.His420Pro)
c.-4294965713A>C
c.1133A>C (p.His378Pro)
c.1061A>C (p.His354Pro)
7g.140015812A>GCA369517808TBXAS1c.1316A>G (p.His439Arg)
c.*1105A>G (n.*1105A>G)
c.1454A>G (p.His485Arg)
c.1319A>G (p.His440Arg)
c.1457A>G (p.His486Arg)
c.1115A>G (p.His372Arg)
n.1287A>G
c.1259A>G (p.His420Arg)
c.-4294965713A>G
c.1133A>G (p.His378Arg)
c.1061A>G (p.His354Arg)
7g.140015812A>TCA369517806TBXAS1c.1316A>T (p.His439Leu)
c.*1105A>T (n.*1105A>T)
c.1454A>T (p.His485Leu)
c.1319A>T (p.His440Leu)
c.1457A>T (p.His486Leu)
c.1115A>T (p.His372Leu)
n.1287A>T
c.1259A>T (p.His420Leu)
c.-4294965713A>T
c.1133A>T (p.His378Leu)
c.1061A>T (p.His354Leu)
7g.140015813C>ACA369517817TBXAS1c.1317C>A (p.His439Gln)
c.*1106C>A (n.*1106C>A)
c.1455C>A (p.His485Gln)
c.1320C>A (p.His440Gln)
c.1458C>A (p.His486Gln)
c.1116C>A (p.His372Gln)
n.1288C>A
c.1260C>A (p.His420Gln)
c.-4294965712C>A
c.1134C>A (p.His378Gln)
c.1062C>A (p.His354Gln)
7g.140015813C=CA1747365680TBXAS1c.1317C= (p.His439=)
c.*1106C= (n.*1106C=)
c.1455C= (p.His485=)
c.1320C= (p.His440=)
c.1458C= (p.His486=)
c.1116C= (p.His372=)
n.1288C=
c.1260C= (p.His420=)
c.-4294965712C=
c.1134C= (p.His378=)
c.1062C= (p.His354=)
7g.140015813C>GCA369517814TBXAS1c.1317C>G (p.His439Gln)
c.*1106C>G (n.*1106C>G)
c.1455C>G (p.His485Gln)
c.1320C>G (p.His440Gln)
c.1458C>G (p.His486Gln)
c.1116C>G (p.His372Gln)
n.1288C>G
c.1260C>G (p.His420Gln)
c.-4294965712C>G
c.1134C>G (p.His378Gln)
c.1062C>G (p.His354Gln)
7g.140015813C>TCA4511985TBXAS1c.1317C>T (p.His439=)
c.*1106C>T (n.*1106C>T)
c.1455C>T (p.His485=)
c.1320C>T (p.His440=)
c.1458C>T (p.His486=)
c.1116C>T (p.His372=)
n.1288C>T
c.1260C>T (p.His420=)
c.-4294965712C>T
c.1134C>T (p.His378=)
c.1062C>T (p.His354=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.140015814C>ACA369517820TBXAS1c.1318C>A (p.His440Asn)
c.*1107C>A (n.*1107C>A)
c.1456C>A (p.His486Asn)
c.1321C>A (p.His441Asn)
c.1459C>A (p.His487Asn)
c.1117C>A (p.His373Asn)
n.1289C>A
c.1261C>A (p.His421Asn)
c.-4294965711C>A
c.1135C>A (p.His379Asn)
c.1063C>A (p.His355Asn)
7g.140015814C>GCA369517822TBXAS1c.1318C>G (p.His440Asp)
c.*1107C>G (n.*1107C>G)
c.1456C>G (p.His486Asp)
c.1321C>G (p.His441Asp)
c.1459C>G (p.His487Asp)
c.1117C>G (p.His373Asp)
n.1289C>G
c.1261C>G (p.His421Asp)
c.-4294965711C>G
c.1135C>G (p.His379Asp)
c.1063C>G (p.His355Asp)
7g.140015814C>TCA369517824TBXAS1c.1318C>T (p.His440Tyr)
c.*1107C>T (n.*1107C>T)
c.1456C>T (p.His486Tyr)
c.1321C>T (p.His441Tyr)
c.1459C>T (p.His487Tyr)
c.1117C>T (p.His373Tyr)
n.1289C>T
c.1261C>T (p.His421Tyr)
c.-4294965711C>T
c.1135C>T (p.His379Tyr)
c.1063C>T (p.His355Tyr)
 gnomAD v4
7g.140015815A>CCA369517829TBXAS1c.1319A>C (p.His440Pro)
c.*1108A>C (n.*1108A>C)
c.1457A>C (p.His486Pro)
c.1322A>C (p.His441Pro)
c.1460A>C (p.His487Pro)
c.1118A>C (p.His373Pro)
n.1290A>C
c.1262A>C (p.His421Pro)
c.-4294965710A>C
c.1136A>C (p.His379Pro)
c.1064A>C (p.His355Pro)
7g.140015815A>GCA369517828TBXAS1c.1319A>G (p.His440Arg)
c.*1108A>G (n.*1108A>G)
c.1457A>G (p.His486Arg)
c.1322A>G (p.His441Arg)
c.1460A>G (p.His487Arg)
c.1118A>G (p.His373Arg)
n.1290A>G
c.1262A>G (p.His421Arg)
c.-4294965710A>G
c.1136A>G (p.His379Arg)
c.1064A>G (p.His355Arg)
 COSMIC COSMIC
7g.140015815A>TCA369517826TBXAS1c.1319A>T (p.His440Leu)
c.*1108A>T (n.*1108A>T)
c.1457A>T (p.His486Leu)
c.1322A>T (p.His441Leu)
c.1460A>T (p.His487Leu)
c.1118A>T (p.His373Leu)
n.1290A>T
c.1262A>T (p.His421Leu)
c.-4294965710A>T
c.1136A>T (p.His379Leu)
c.1064A>T (p.His355Leu)
7g.140015816T>ACA4511986TBXAS1c.1320T>A (p.His440Gln)
c.*1109T>A (n.*1109T>A)
c.1458T>A (p.His486Gln)
c.1323T>A (p.His441Gln)
c.1461T>A (p.His487Gln)
c.1119T>A (p.His373Gln)
n.1291T>A
c.1263T>A (p.His421Gln)
c.-4294965709T>A
c.1137T>A (p.His379Gln)
c.1065T>A (p.His355Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.140015816T>CCA4511987TBXAS1c.1320T>C (p.His440=)
c.*1109T>C (n.*1109T>C)
c.1458T>C (p.His486=)
c.1323T>C (p.His441=)
c.1461T>C (p.His487=)
c.1119T>C (p.His373=)
n.1291T>C
c.1263T>C (p.His421=)
c.-4294965709T>C
c.1137T>C (p.His379=)
c.1065T>C (p.His355=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.140015816T>GCA369517835TBXAS1c.1320T>G (p.His440Gln)
c.*1109T>G (n.*1109T>G)
c.1458T>G (p.His486Gln)
c.1323T>G (p.His441Gln)
c.1461T>G (p.His487Gln)
c.1119T>G (p.His373Gln)
n.1291T>G
c.1263T>G (p.His421Gln)
c.-4294965709T>G
c.1137T>G (p.His379Gln)
c.1065T>G (p.His355Gln)
7g.140015816T=CA1747365681TBXAS1c.1320T= (p.His440=)
c.*1109T= (n.*1109T=)
c.1458T= (p.His486=)
c.1323T= (p.His441=)
c.1461T= (p.His487=)
c.1119T= (p.His373=)
n.1291T=
c.1263T= (p.His421=)
c.-4294965709T=
c.1137T= (p.His379=)
c.1065T= (p.His355=)
7g.140015817G>ACA369517837TBXAS1c.1321G>A (p.Asp441Asn)
c.*1110G>A (n.*1110G>A)
c.1459G>A (p.Asp487Asn)
c.1324G>A (p.Asp442Asn)
c.1462G>A (p.Asp488Asn)
c.1120G>A (p.Asp374Asn)
n.1292G>A
c.1264G>A (p.Asp422Asn)
c.-4294965708G>A
c.1138G>A (p.Asp380Asn)
c.1066G>A (p.Asp356Asn)
7g.140015817G>CCA369517839TBXAS1c.1321G>C (p.Asp441His)
c.*1110G>C (n.*1110G>C)
c.1459G>C (p.Asp487His)
c.1324G>C (p.Asp442His)
c.1462G>C (p.Asp488His)
c.1120G>C (p.Asp374His)
n.1292G>C
c.1264G>C (p.Asp422His)
c.-4294965708G>C
c.1138G>C (p.Asp380His)
c.1066G>C (p.Asp356His)
7g.140015817G>TCA369517841TBXAS1c.1321G>T (p.Asp441Tyr)
c.*1110G>T (n.*1110G>T)
c.1459G>T (p.Asp487Tyr)
c.1324G>T (p.Asp442Tyr)
c.1462G>T (p.Asp488Tyr)
c.1120G>T (p.Asp374Tyr)
n.1292G>T
c.1264G>T (p.Asp422Tyr)
c.-4294965708G>T
c.1138G>T (p.Asp380Tyr)
c.1066G>T (p.Asp356Tyr)
7g.140015818A>CCA369517844TBXAS1c.1322A>C (p.Asp441Ala)
c.*1111A>C (n.*1111A>C)
c.1460A>C (p.Asp487Ala)
c.1325A>C (p.Asp442Ala)
c.1463A>C (p.Asp488Ala)
c.1121A>C (p.Asp374Ala)
n.1293A>C
c.1265A>C (p.Asp422Ala)
c.-4294965707A>C
c.1139A>C (p.Asp380Ala)
c.1067A>C (p.Asp356Ala)
7g.140015818A>GCA369517847TBXAS1c.1322A>G (p.Asp441Gly)
c.*1111A>G (n.*1111A>G)
c.1460A>G (p.Asp487Gly)
c.1325A>G (p.Asp442Gly)
c.1463A>G (p.Asp488Gly)
c.1121A>G (p.Asp374Gly)
n.1293A>G
c.1265A>G (p.Asp422Gly)
c.-4294965707A>G
c.1139A>G (p.Asp380Gly)
c.1067A>G (p.Asp356Gly)
7g.140015818A>TCA369517846TBXAS1c.1322A>T (p.Asp441Val)
c.*1111A>T (n.*1111A>T)
c.1460A>T (p.Asp487Val)
c.1325A>T (p.Asp442Val)
c.1463A>T (p.Asp488Val)
c.1121A>T (p.Asp374Val)
n.1293A>T
c.1265A>T (p.Asp422Val)
c.-4294965707A>T
c.1139A>T (p.Asp380Val)
c.1067A>T (p.Asp356Val)
 gnomAD v4
7g.140015819C>ACA369517848TBXAS1c.1323C>A (p.Asp441Glu)
c.*1112C>A (n.*1112C>A)
c.1461C>A (p.Asp487Glu)
c.1326C>A (p.Asp442Glu)
c.1464C>A (p.Asp488Glu)
c.1122C>A (p.Asp374Glu)
n.1294C>A
c.1266C>A (p.Asp422Glu)
c.-4294965706C>A
c.1140C>A (p.Asp380Glu)
c.1068C>A (p.Asp356Glu)
7g.140015819C>GCA369517849TBXAS1c.1323C>G (p.Asp441Glu)
c.*1112C>G (n.*1112C>G)
c.1461C>G (p.Asp487Glu)
c.1326C>G (p.Asp442Glu)
c.1464C>G (p.Asp488Glu)
c.1122C>G (p.Asp374Glu)
n.1294C>G
c.1266C>G (p.Asp422Glu)
c.-4294965706C>G
c.1140C>G (p.Asp380Glu)
c.1068C>G (p.Asp356Glu)
7g.140015819C>TCA457967943TBXAS1c.1323C>T (p.Asp441=)
c.*1112C>T (n.*1112C>T)
c.1461C>T (p.Asp487=)
c.1326C>T (p.Asp442=)
c.1464C>T (p.Asp488=)
c.1122C>T (p.Asp374=)
n.1294C>T
c.1266C>T (p.Asp422=)
c.-4294965706C>T
c.1140C>T (p.Asp380=)
c.1068C>T (p.Asp356=)
7g.140015820C>ACA369517850TBXAS1c.1324C>A (p.Pro442Thr)
c.*1113C>A (n.*1113C>A)
c.1462C>A (p.Pro488Thr)
c.1327C>A (p.Pro443Thr)
c.1465C>A (p.Pro489Thr)
c.1123C>A (p.Pro375Thr)
n.1295C>A
c.1267C>A (p.Pro423Thr)
c.-4294965705C>A
c.1141C>A (p.Pro381Thr)
c.1069C>A (p.Pro357Thr)
7g.140015820C>GCA369517851TBXAS1c.1324C>G (p.Pro442Ala)
c.*1113C>G (n.*1113C>G)
c.1462C>G (p.Pro488Ala)
c.1327C>G (p.Pro443Ala)
c.1465C>G (p.Pro489Ala)
c.1123C>G (p.Pro375Ala)
n.1295C>G
c.1267C>G (p.Pro423Ala)
c.-4294965705C>G
c.1141C>G (p.Pro381Ala)
c.1069C>G (p.Pro357Ala)
7g.140015820C>TCA369517853TBXAS1c.1324C>T (p.Pro442Ser)
c.*1113C>T (n.*1113C>T)
c.1462C>T (p.Pro488Ser)
c.1327C>T (p.Pro443Ser)
c.1465C>T (p.Pro489Ser)
c.1123C>T (p.Pro375Ser)
n.1295C>T
c.1267C>T (p.Pro423Ser)
c.-4294965705C>T
c.1141C>T (p.Pro381Ser)
c.1069C>T (p.Pro357Ser)
 gnomAD v4
7g.140015821C>ACA369517855TBXAS1c.1325C>A (p.Pro442His)
c.*1114C>A (n.*1114C>A)
c.1463C>A (p.Pro488His)
c.1328C>A (p.Pro443His)
c.1466C>A (p.Pro489His)
c.1124C>A (p.Pro375His)
n.1296C>A
c.1268C>A (p.Pro423His)
c.-4294965704C>A
c.1142C>A (p.Pro381His)
c.1070C>A (p.Pro357His)
7g.140015821C>GCA369517857TBXAS1c.1325C>G (p.Pro442Arg)
c.*1114C>G (n.*1114C>G)
c.1463C>G (p.Pro488Arg)
c.1328C>G (p.Pro443Arg)
c.1466C>G (p.Pro489Arg)
c.1124C>G (p.Pro375Arg)
n.1296C>G
c.1268C>G (p.Pro423Arg)
c.-4294965704C>G
c.1142C>G (p.Pro381Arg)
c.1070C>G (p.Pro357Arg)
7g.140015821C>TCA369517859TBXAS1c.1325C>T (p.Pro442Leu)
c.*1114C>T (n.*1114C>T)
c.1463C>T (p.Pro488Leu)
c.1328C>T (p.Pro443Leu)
c.1466C>T (p.Pro489Leu)
c.1124C>T (p.Pro375Leu)
n.1296C>T
c.1268C>T (p.Pro423Leu)
c.-4294965704C>T
c.1142C>T (p.Pro381Leu)
c.1070C>T (p.Pro357Leu)
7g.140015822T>ACA457967948TBXAS1c.1326T>A (p.Pro442=)
c.*1115T>A (n.*1115T>A)
c.1464T>A (p.Pro488=)
c.1329T>A (p.Pro443=)
c.1467T>A (p.Pro489=)
c.1125T>A (p.Pro375=)
n.1297T>A
c.1269T>A (p.Pro423=)
c.-4294965703T>A
c.1143T>A (p.Pro381=)
c.1071T>A (p.Pro357=)
7g.140015822T>CCA457967945TBXAS1c.1326T>C (p.Pro442=)
c.*1115T>C (n.*1115T>C)
c.1464T>C (p.Pro488=)
c.1329T>C (p.Pro443=)
c.1467T>C (p.Pro489=)
c.1125T>C (p.Pro375=)
n.1297T>C
c.1269T>C (p.Pro423=)
c.-4294965703T>C
c.1143T>C (p.Pro381=)
c.1071T>C (p.Pro357=)
7g.140015822T>GCA457967946TBXAS1c.1326T>G (p.Pro442=)
c.*1115T>G (n.*1115T>G)
c.1464T>G (p.Pro488=)
c.1329T>G (p.Pro443=)
c.1467T>G (p.Pro489=)
c.1125T>G (p.Pro375=)
n.1297T>G
c.1269T>G (p.Pro423=)
c.-4294965703T>G
c.1143T>G (p.Pro381=)
c.1071T>G (p.Pro357=)
7g.140015823G>ACA369517861TBXAS1c.1327G>A (p.Glu443Lys)
c.*1116G>A (n.*1116G>A)
c.1465G>A (p.Glu489Lys)
c.1330G>A (p.Glu444Lys)
c.1468G>A (p.Glu490Lys)
c.1126G>A (p.Glu376Lys)
n.1298G>A
c.1270G>A (p.Glu424Lys)
c.-4294965702G>A
c.1144G>A (p.Glu382Lys)
c.1072G>A (p.Glu358Lys)
 dbSNP gnomAD v2 gnomAD v4
7g.140015823G>CCA167959692TBXAS1c.1327G>C (p.Glu443Gln)
c.*1116G>C (n.*1116G>C)
c.1465G>C (p.Glu489Gln)
c.1330G>C (p.Glu444Gln)
c.1468G>C (p.Glu490Gln)
c.1126G>C (p.Glu376Gln)
n.1298G>C
c.1270G>C (p.Glu424Gln)
c.-4294965702G>C
c.1144G>C (p.Glu382Gln)
c.1072G>C (p.Glu358Gln)
 dbSNP gnomAD v4
7g.140015823G=CA1747365682TBXAS1c.1327G= (p.Glu443=)
c.*1116G= (n.*1116G=)
c.1465G= (p.Glu489=)
c.1330G= (p.Glu444=)
c.1468G= (p.Glu490=)
c.1126G= (p.Glu376=)
n.1298G=
c.1270G= (p.Glu424=)
c.-4294965702G=
c.1144G= (p.Glu382=)
c.1072G= (p.Glu358=)
7g.140015823G>TCA369517864TBXAS1c.1327G>T (p.Glu443Ter)
c.*1116G>T (n.*1116G>T)
c.1465G>T (p.Glu489Ter)
c.1330G>T (p.Glu444Ter)
c.1468G>T (p.Glu490Ter)
c.1126G>T (p.Glu376Ter)
n.1298G>T
c.1270G>T (p.Glu424Ter)
c.-4294965702G>T
c.1144G>T (p.Glu382Ter)
c.1072G>T (p.Glu358Ter)
7g.140015824A=CA1747365683TBXAS1c.1328A= (p.Glu443=)
c.*1117A= (n.*1117A=)
c.1466A= (p.Glu489=)
c.1331A= (p.Glu444=)
c.1469A= (p.Glu490=)
c.1127A= (p.Glu376=)
n.1299A=
c.1271A= (p.Glu424=)
c.-4294965701A=
c.1145A= (p.Glu382=)
c.1073A= (p.Glu358=)
7g.140015824A>CCA369517869TBXAS1c.1328A>C (p.Glu443Ala)
c.*1117A>C (n.*1117A>C)
c.1466A>C (p.Glu489Ala)
c.1331A>C (p.Glu444Ala)
c.1469A>C (p.Glu490Ala)
c.1127A>C (p.Glu376Ala)
n.1299A>C
c.1271A>C (p.Glu424Ala)
c.-4294965701A>C
c.1145A>C (p.Glu382Ala)
c.1073A>C (p.Glu358Ala)
7g.140015824A>GCA4511988TBXAS1c.1328A>G (p.Glu443Gly)
c.*1117A>G (n.*1117A>G)
c.1466A>G (p.Glu489Gly)
c.1331A>G (p.Glu444Gly)
c.1469A>G (p.Glu490Gly)
c.1127A>G (p.Glu376Gly)
n.1299A>G
c.1271A>G (p.Glu424Gly)
c.-4294965701A>G
c.1145A>G (p.Glu382Gly)
c.1073A>G (p.Glu358Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.140015824A>TCA369517867TBXAS1c.1328A>T (p.Glu443Val)
c.*1117A>T (n.*1117A>T)
c.1466A>T (p.Glu489Val)
c.1331A>T (p.Glu444Val)
c.1469A>T (p.Glu490Val)
c.1127A>T (p.Glu376Val)
n.1299A>T
c.1271A>T (p.Glu424Val)
c.-4294965701A>T
c.1145A>T (p.Glu382Val)
c.1073A>T (p.Glu358Val)
7g.140015825G>ACA457967952TBXAS1c.1329G>A (p.Glu443=)
c.*1118G>A (n.*1118G>A)
c.1467G>A (p.Glu489=)
c.1332G>A (p.Glu444=)
c.1470G>A (p.Glu490=)
c.1128G>A (p.Glu376=)
n.1300G>A
c.1272G>A (p.Glu424=)
c.-4294965700G>A
c.1146G>A (p.Glu382=)
c.1074G>A (p.Glu358=)
7g.140015825G>CCA369517872TBXAS1c.1329G>C (p.Glu443Asp)
c.*1118G>C (n.*1118G>C)
c.1467G>C (p.Glu489Asp)
c.1332G>C (p.Glu444Asp)
c.1470G>C (p.Glu490Asp)
c.1128G>C (p.Glu376Asp)
n.1300G>C
c.1272G>C (p.Glu424Asp)
c.-4294965700G>C
c.1146G>C (p.Glu382Asp)
c.1074G>C (p.Glu358Asp)
7g.140015825G>TCA369517875TBXAS1c.1329G>T (p.Glu443Asp)
c.*1118G>T (n.*1118G>T)
c.1467G>T (p.Glu489Asp)
c.1332G>T (p.Glu444Asp)
c.1470G>T (p.Glu490Asp)
c.1128G>T (p.Glu376Asp)
n.1300G>T
c.1272G>T (p.Glu424Asp)
c.-4294965700G>T
c.1146G>T (p.Glu382Asp)
c.1074G>T (p.Glu358Asp)
7g.140015826C>ACA4511989TBXAS1c.1330C>A (p.His444Asn)
c.*1119C>A (n.*1119C>A)
c.1468C>A (p.His490Asn)
c.1333C>A (p.His445Asn)
c.1471C>A (p.His491Asn)
c.1129C>A (p.His377Asn)
n.1301C>A
c.1273C>A (p.His425Asn)
c.-4294965699C>A
c.1147C>A (p.His383Asn)
c.1075C>A (p.His359Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.140015826C=CA1747365684TBXAS1c.1330C= (p.His444=)
c.*1119C= (n.*1119C=)
c.1468C= (p.His490=)
c.1333C= (p.His445=)
c.1471C= (p.His491=)
c.1129C= (p.His377=)
n.1301C=
c.1273C= (p.His425=)
c.-4294965699C=
c.1147C= (p.His383=)
c.1075C= (p.His359=)
7g.140015826C>GCA369517891TBXAS1c.1330C>G (p.His444Asp)
c.*1119C>G (n.*1119C>G)
c.1468C>G (p.His490Asp)
c.1333C>G (p.His445Asp)
c.1471C>G (p.His491Asp)
c.1129C>G (p.His377Asp)
n.1301C>G
c.1273C>G (p.His425Asp)
c.-4294965699C>G
c.1147C>G (p.His383Asp)
c.1075C>G (p.His359Asp)
7g.140015826C>TCA369517885TBXAS1c.1330C>T (p.His444Tyr)
c.*1119C>T (n.*1119C>T)
c.1468C>T (p.His490Tyr)
c.1333C>T (p.His445Tyr)
c.1471C>T (p.His491Tyr)
c.1129C>T (p.His377Tyr)
n.1301C>T
c.1273C>T (p.His425Tyr)
c.-4294965699C>T
c.1147C>T (p.His383Tyr)
c.1075C>T (p.His359Tyr)
 dbSNP gnomAD v2
7g.140015827A=CA1747365685TBXAS1c.1331A= (p.His444=)
c.*1120A= (n.*1120A=)
c.1469A= (p.His490=)
c.1334A= (p.His445=)
c.1472A= (p.His491=)
c.1130A= (p.His377=)
n.1302A=
c.1274A= (p.His425=)
c.-4294965698A=
c.1148A= (p.His383=)
c.1076A= (p.His359=)
7g.140015827A>CCA4511990TBXAS1c.1331A>C (p.His444Pro)
c.*1120A>C (n.*1120A>C)
c.1469A>C (p.His490Pro)
c.1334A>C (p.His445Pro)
c.1472A>C (p.His491Pro)
c.1130A>C (p.His377Pro)
n.1302A>C
c.1274A>C (p.His425Pro)
c.-4294965698A>C
c.1148A>C (p.His383Pro)
c.1076A>C (p.His359Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.140015827A>GCA369517896TBXAS1c.1331A>G (p.His444Arg)
c.*1120A>G (n.*1120A>G)
c.1469A>G (p.His490Arg)
c.1334A>G (p.His445Arg)
c.1472A>G (p.His491Arg)
c.1130A>G (p.His377Arg)
n.1302A>G
c.1274A>G (p.His425Arg)
c.-4294965698A>G
c.1148A>G (p.His383Arg)
c.1076A>G (p.His359Arg)
7g.140015827A>TCA369517897TBXAS1c.1331A>T (p.His444Leu)
c.*1120A>T (n.*1120A>T)
c.1469A>T (p.His490Leu)
c.1334A>T (p.His445Leu)
c.1472A>T (p.His491Leu)
c.1130A>T (p.His377Leu)
n.1302A>T
c.1274A>T (p.His425Leu)
c.-4294965698A>T
c.1148A>T (p.His383Leu)
c.1076A>T (p.His359Leu)
 gnomAD v4
7g.140015828C>ACA369517899TBXAS1c.1332C>A (p.His444Gln)
c.*1121C>A (n.*1121C>A)
c.1470C>A (p.His490Gln)
c.1335C>A (p.His445Gln)
c.1473C>A (p.His491Gln)
c.1131C>A (p.His377Gln)
n.1303C>A
c.1275C>A (p.His425Gln)
c.-4294965697C>A
c.1149C>A (p.His383Gln)
c.1077C>A (p.His359Gln)
 gnomAD v4
7g.140015828C>GCA369517900TBXAS1c.1332C>G (p.His444Gln)
c.*1121C>G (n.*1121C>G)
c.1470C>G (p.His490Gln)
c.1335C>G (p.His445Gln)
c.1473C>G (p.His491Gln)
c.1131C>G (p.His377Gln)
n.1303C>G
c.1275C>G (p.His425Gln)
c.-4294965697C>G
c.1149C>G (p.His383Gln)
c.1077C>G (p.His359Gln)
7g.140015828C>TCA457967956TBXAS1c.1332C>T (p.His444=)
c.*1121C>T (n.*1121C>T)
c.1470C>T (p.His490=)
c.1335C>T (p.His445=)
c.1473C>T (p.His491=)
c.1131C>T (p.His377=)
n.1303C>T
c.1275C>T (p.His425=)
c.-4294965697C>T
c.1149C>T (p.His383=)
c.1077C>T (p.His359=)
 gnomAD v4
7g.140015829T>ACA369517901TBXAS1c.1333T>A (p.Trp445Arg)
c.*1122T>A (n.*1122T>A)
c.1471T>A (p.Trp491Arg)
c.1336T>A (p.Trp446Arg)
c.1474T>A (p.Trp492Arg)
c.1132T>A (p.Trp378Arg)
n.1304T>A
c.1276T>A (p.Trp426Arg)
c.-4294965696T>A
c.1150T>A (p.Trp384Arg)
c.1078T>A (p.Trp360Arg)
 COSMIC COSMIC
7g.140015829T>CCA369517902TBXAS1c.1333T>C (p.Trp445Arg)
c.*1122T>C (n.*1122T>C)
c.1471T>C (p.Trp491Arg)
c.1336T>C (p.Trp446Arg)
c.1474T>C (p.Trp492Arg)
c.1132T>C (p.Trp378Arg)
n.1304T>C
c.1276T>C (p.Trp426Arg)
c.-4294965696T>C
c.1150T>C (p.Trp384Arg)
c.1078T>C (p.Trp360Arg)
7g.140015829T>GCA369517903TBXAS1c.1333T>G (p.Trp445Gly)
c.*1122T>G (n.*1122T>G)
c.1471T>G (p.Trp491Gly)
c.1336T>G (p.Trp446Gly)
c.1474T>G (p.Trp492Gly)
c.1132T>G (p.Trp378Gly)
n.1304T>G
c.1276T>G (p.Trp426Gly)
c.-4294965696T>G
c.1150T>G (p.Trp384Gly)
c.1078T>G (p.Trp360Gly)
7g.140015830G>ACA369517905TBXAS1c.1334G>A (p.Trp445Ter)
c.*1123G>A (n.*1123G>A)
c.1472G>A (p.Trp491Ter)
c.1337G>A (p.Trp446Ter)
c.1475G>A (p.Trp492Ter)
c.1133G>A (p.Trp378Ter)
n.1305G>A
c.1277G>A (p.Trp426Ter)
c.-4294965695G>A
c.1151G>A (p.Trp384Ter)
c.1079G>A (p.Trp360Ter)
 dbSNP gnomAD v2 gnomAD v4
7g.140015830G>CCA369517907TBXAS1c.1334G>C (p.Trp445Ser)
c.*1123G>C (n.*1123G>C)
c.1472G>C (p.Trp491Ser)
c.1337G>C (p.Trp446Ser)
c.1475G>C (p.Trp492Ser)
c.1133G>C (p.Trp378Ser)
n.1305G>C
c.1277G>C (p.Trp426Ser)
c.-4294965695G>C
c.1151G>C (p.Trp384Ser)
c.1079G>C (p.Trp360Ser)
7g.140015830G=CA1747365686TBXAS1c.1334G= (p.Trp445=)
c.*1123G= (n.*1123G=)
c.1472G= (p.Trp491=)
c.1337G= (p.Trp446=)
c.1475G= (p.Trp492=)
c.1133G= (p.Trp378=)
n.1305G=
c.1277G= (p.Trp426=)
c.-4294965695G=
c.1151G= (p.Trp384=)
c.1079G= (p.Trp360=)
7g.140015830G>TCA369517909TBXAS1c.1334G>T (p.Trp445Leu)
c.*1123G>T (n.*1123G>T)
c.1472G>T (p.Trp491Leu)
c.1337G>T (p.Trp446Leu)
c.1475G>T (p.Trp492Leu)
c.1133G>T (p.Trp378Leu)
n.1305G>T
c.1277G>T (p.Trp426Leu)
c.-4294965695G>T
c.1151G>T (p.Trp384Leu)
c.1079G>T (p.Trp360Leu)
7g.140015831G>ACA4511991TBXAS1c.1335G>A (p.Trp445Ter)
c.*1124G>A (n.*1124G>A)
c.1473G>A (p.Trp491Ter)
c.1338G>A (p.Trp446Ter)
c.1476G>A (p.Trp492Ter)
c.1134G>A (p.Trp378Ter)
n.1306G>A
c.1278G>A (p.Trp426Ter)
c.-4294965694G>A
c.1152G>A (p.Trp384Ter)
c.1080G>A (p.Trp360Ter)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.140015831G>CCA369517914TBXAS1c.1335G>C (p.Trp445Cys)
c.*1124G>C (n.*1124G>C)
c.1473G>C (p.Trp491Cys)
c.1338G>C (p.Trp446Cys)
c.1476G>C (p.Trp492Cys)
c.1134G>C (p.Trp378Cys)
n.1306G>C
c.1278G>C (p.Trp426Cys)
c.-4294965694G>C
c.1152G>C (p.Trp384Cys)
c.1080G>C (p.Trp360Cys)
 dbSNP gnomAD v4
7g.140015831G=CA1747365687TBXAS1c.1335G= (p.Trp445=)
c.*1124G= (n.*1124G=)
c.1473G= (p.Trp491=)
c.1338G= (p.Trp446=)
c.1476G= (p.Trp492=)
c.1134G= (p.Trp378=)
n.1306G=
c.1278G= (p.Trp426=)
c.-4294965694G=
c.1152G= (p.Trp384=)
c.1080G= (p.Trp360=)
7g.140015831G>TCA369517912TBXAS1c.1335G>T (p.Trp445Cys)
c.*1124G>T (n.*1124G>T)
c.1473G>T (p.Trp491Cys)
c.1338G>T (p.Trp446Cys)
c.1476G>T (p.Trp492Cys)
c.1134G>T (p.Trp378Cys)
n.1306G>T
c.1278G>T (p.Trp426Cys)
c.-4294965694G>T
c.1152G>T (p.Trp384Cys)
c.1080G>T (p.Trp360Cys)

Number of alleles fetched