Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.115604739C>ACA372067866TRPS1c.1230G>T (p.Trp410Cys)
c.1191G>T (p.Trp397Cys)
c.1203G>T (p.Trp401Cys)
c.1053G>T (p.Trp351Cys)
c.1209G>T (p.Trp403Cys)
 gnomAD v4
8g.115604739C=CA1812961414TRPS1c.1230G= (p.Trp410=)
c.1191G= (p.Trp397=)
c.1203G= (p.Trp401=)
c.1053G= (p.Trp351=)
c.1209G= (p.Trp403=)
8g.115604739C>GCA372067867TRPS1c.1230G>C (p.Trp410Cys)
c.1191G>C (p.Trp397Cys)
c.1203G>C (p.Trp401Cys)
c.1053G>C (p.Trp351Cys)
c.1209G>C (p.Trp403Cys)
8g.115604739C>TCA16043432TRPS1c.1230G>A (p.Trp410Ter)
c.1191G>A (p.Trp397Ter)
c.1203G>A (p.Trp401Ter)
c.1053G>A (p.Trp351Ter)
c.1209G>A (p.Trp403Ter)
 ClinVar dbSNP
8g.115604740C>ACA372067868TRPS1c.1229G>T (p.Trp410Leu)
c.1190G>T (p.Trp397Leu)
c.1202G>T (p.Trp401Leu)
c.1052G>T (p.Trp351Leu)
c.1208G>T (p.Trp403Leu)
8g.115604740C>GCA372067869TRPS1c.1229G>C (p.Trp410Ser)
c.1190G>C (p.Trp397Ser)
c.1202G>C (p.Trp401Ser)
c.1052G>C (p.Trp351Ser)
c.1208G>C (p.Trp403Ser)
8g.115604740C>TCA372067870TRPS1c.1229G>A (p.Trp410Ter)
c.1190G>A (p.Trp397Ter)
c.1202G>A (p.Trp401Ter)
c.1052G>A (p.Trp351Ter)
c.1208G>A (p.Trp403Ter)
 ClinVar
8g.115604741A=CA1812961415TRPS1c.1228T= (p.Trp410=)
c.1189T= (p.Trp397=)
c.1201T= (p.Trp401=)
c.1051T= (p.Trp351=)
c.1207T= (p.Trp403=)
8g.115604741A>CCA372067871TRPS1c.1228T>G (p.Trp410Gly)
c.1189T>G (p.Trp397Gly)
c.1201T>G (p.Trp401Gly)
c.1051T>G (p.Trp351Gly)
c.1207T>G (p.Trp403Gly)
8g.115604741A>GCA372067872TRPS1c.1228T>C (p.Trp410Arg)
c.1189T>C (p.Trp397Arg)
c.1201T>C (p.Trp401Arg)
c.1051T>C (p.Trp351Arg)
c.1207T>C (p.Trp403Arg)
8g.115604741A>TCA372067873TRPS1c.1228T>A (p.Trp410Arg)
c.1189T>A (p.Trp397Arg)
c.1201T>A (p.Trp401Arg)
c.1051T>A (p.Trp351Arg)
c.1207T>A (p.Trp403Arg)
 dbSNP gnomAD v2 gnomAD v4
8g.115604742T>ACA372067874TRPS1c.1227A>T (p.Lys409Asn)
c.1188A>T (p.Lys396Asn)
c.1200A>T (p.Lys400Asn)
c.1050A>T (p.Lys350Asn)
c.1206A>T (p.Lys402Asn)
8g.115604742T>CCA462659329TRPS1c.1227A>G (p.Lys409=)
c.1188A>G (p.Lys396=)
c.1200A>G (p.Lys400=)
c.1050A>G (p.Lys350=)
c.1206A>G (p.Lys402=)
8g.115604742T>GCA372067875TRPS1c.1227A>C (p.Lys409Asn)
c.1188A>C (p.Lys396Asn)
c.1200A>C (p.Lys400Asn)
c.1050A>C (p.Lys350Asn)
c.1206A>C (p.Lys402Asn)
 dbSNP
8g.115604742T=CA1812961416TRPS1c.1227A= (p.Lys409=)
c.1188A= (p.Lys396=)
c.1200A= (p.Lys400=)
c.1050A= (p.Lys350=)
c.1206A= (p.Lys402=)
8g.115604743T>ACA372067876TRPS1c.1226A>T (p.Lys409Ile)
c.1187A>T (p.Lys396Ile)
c.1199A>T (p.Lys400Ile)
c.1049A>T (p.Lys350Ile)
c.1205A>T (p.Lys402Ile)
8g.115604743T>CCA372067877TRPS1c.1226A>G (p.Lys409Arg)
c.1187A>G (p.Lys396Arg)
c.1199A>G (p.Lys400Arg)
c.1049A>G (p.Lys350Arg)
c.1205A>G (p.Lys402Arg)
 gnomAD v4
8g.115604743T>GCA372067878TRPS1c.1226A>C (p.Lys409Thr)
c.1187A>C (p.Lys396Thr)
c.1199A>C (p.Lys400Thr)
c.1049A>C (p.Lys350Thr)
c.1205A>C (p.Lys402Thr)
8g.115604744T>ACA372067880TRPS1c.1225A>T (p.Lys409Ter)
c.1186A>T (p.Lys396Ter)
c.1198A>T (p.Lys400Ter)
c.1048A>T (p.Lys350Ter)
c.1204A>T (p.Lys402Ter)
8g.115604744T>CCA372067881TRPS1c.1225A>G (p.Lys409Glu)
c.1186A>G (p.Lys396Glu)
c.1198A>G (p.Lys400Glu)
c.1048A>G (p.Lys350Glu)
c.1204A>G (p.Lys402Glu)
8g.115604744T>GCA372067879TRPS1c.1225A>C (p.Lys409Gln)
c.1186A>C (p.Lys396Gln)
c.1198A>C (p.Lys400Gln)
c.1048A>C (p.Lys350Gln)
c.1204A>C (p.Lys402Gln)
 COSMIC COSMIC
8g.115604745T>ACA462659336TRPS1c.1224A>T (p.Gly408=)
c.1185A>T (p.Gly395=)
c.1197A>T (p.Gly399=)
c.1047A>T (p.Gly349=)
c.1203A>T (p.Gly401=)
8g.115604745T>CCA462659338TRPS1c.1224A>G (p.Gly408=)
c.1185A>G (p.Gly395=)
c.1197A>G (p.Gly399=)
c.1047A>G (p.Gly349=)
c.1203A>G (p.Gly401=)
8g.115604745T>GCA462659341TRPS1c.1224A>C (p.Gly408=)
c.1185A>C (p.Gly395=)
c.1197A>C (p.Gly399=)
c.1047A>C (p.Gly349=)
c.1203A>C (p.Gly401=)
8g.115604746C>ACA372067882TRPS1c.1223G>T (p.Gly408Val)
c.1184G>T (p.Gly395Val)
c.1196G>T (p.Gly399Val)
c.1046G>T (p.Gly349Val)
c.1202G>T (p.Gly401Val)
8g.115604746C=CA1812961417TRPS1c.1223G= (p.Gly408=)
c.1184G= (p.Gly395=)
c.1196G= (p.Gly399=)
c.1046G= (p.Gly349=)
c.1202G= (p.Gly401=)
8g.115604746C>GCA372067883TRPS1c.1223G>C (p.Gly408Ala)
c.1184G>C (p.Gly395Ala)
c.1196G>C (p.Gly399Ala)
c.1046G>C (p.Gly349Ala)
c.1202G>C (p.Gly401Ala)
8g.115604746C>TCA4851857TRPS1c.1223G>A (p.Gly408Glu)
c.1184G>A (p.Gly395Glu)
c.1196G>A (p.Gly399Glu)
c.1046G>A (p.Gly349Glu)
c.1202G>A (p.Gly401Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.115604748delCA2695210255TRPS1c.1223del (p.Gly408GlufsTer7)
c.1184del (p.Gly395GlufsTer7)
c.1196del (p.Gly399GlufsTer7)
c.1046del (p.Gly349GlufsTer7)
c.1202del (p.Gly401GlufsTer7)
8g.115604747C>ACA372067884TRPS1c.1222G>T (p.Gly408Ter)
c.1183G>T (p.Gly395Ter)
c.1195G>T (p.Gly399Ter)
c.1045G>T (p.Gly349Ter)
c.1201G>T (p.Gly401Ter)
8g.115604747C>GCA372067885TRPS1c.1222G>C (p.Gly408Arg)
c.1183G>C (p.Gly395Arg)
c.1195G>C (p.Gly399Arg)
c.1045G>C (p.Gly349Arg)
c.1201G>C (p.Gly401Arg)
8g.115604747C>TCA372067886TRPS1c.1222G>A (p.Gly408Arg)
c.1183G>A (p.Gly395Arg)
c.1195G>A (p.Gly399Arg)
c.1045G>A (p.Gly349Arg)
c.1201G>A (p.Gly401Arg)
8g.115604748C>ACA372067887TRPS1c.1221G>T (p.Leu407Phe)
c.1182G>T (p.Leu394Phe)
c.1194G>T (p.Leu398Phe)
c.1044G>T (p.Leu348Phe)
c.1200G>T (p.Leu400Phe)
8g.115604748C=CA1812961418TRPS1c.1221G= (p.Leu407=)
c.1182G= (p.Leu394=)
c.1194G= (p.Leu398=)
c.1044G= (p.Leu348=)
c.1200G= (p.Leu400=)
8g.115604748C>GCA372067888TRPS1c.1221G>C (p.Leu407Phe)
c.1182G>C (p.Leu394Phe)
c.1194G>C (p.Leu398Phe)
c.1044G>C (p.Leu348Phe)
c.1200G>C (p.Leu400Phe)
8g.115604748C>TCA4851858TRPS1c.1221G>A (p.Leu407=)
c.1182G>A (p.Leu394=)
c.1194G>A (p.Leu398=)
c.1044G>A (p.Leu348=)
c.1200G>A (p.Leu400=)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.115604749A>CCA372067889TRPS1c.1220T>G (p.Leu407Trp)
c.1181T>G (p.Leu394Trp)
c.1193T>G (p.Leu398Trp)
c.1043T>G (p.Leu348Trp)
c.1199T>G (p.Leu400Trp)
8g.115604749A>GCA372067890TRPS1c.1220T>C (p.Leu407Ser)
c.1181T>C (p.Leu394Ser)
c.1193T>C (p.Leu398Ser)
c.1043T>C (p.Leu348Ser)
c.1199T>C (p.Leu400Ser)
8g.115604749A>TCA372067891TRPS1c.1220T>A (p.Leu407Ter)
c.1181T>A (p.Leu394Ter)
c.1193T>A (p.Leu398Ter)
c.1043T>A (p.Leu348Ter)
c.1199T>A (p.Leu400Ter)
8g.115604750A=CA1812961419TRPS1c.1219T= (p.Leu407=)
c.1180T= (p.Leu394=)
c.1192T= (p.Leu398=)
c.1042T= (p.Leu348=)
c.1198T= (p.Leu400=)
8g.115604750A>CCA372067892TRPS1c.1219T>G (p.Leu407Val)
c.1180T>G (p.Leu394Val)
c.1192T>G (p.Leu398Val)
c.1042T>G (p.Leu348Val)
c.1198T>G (p.Leu400Val)
 ClinVar
8g.115604750A>GCA462659356TRPS1c.1219T>C (p.Leu407=)
c.1180T>C (p.Leu394=)
c.1192T>C (p.Leu398=)
c.1042T>C (p.Leu348=)
c.1198T>C (p.Leu400=)
8g.115604750A>TCA372067893TRPS1c.1219T>A (p.Leu407Met)
c.1180T>A (p.Leu394Met)
c.1192T>A (p.Leu398Met)
c.1042T>A (p.Leu348Met)
c.1198T>A (p.Leu400Met)
 ClinVar dbSNP
8g.115604751G>ACA462659362TRPS1c.1218C>T (p.Asp406=)
c.1179C>T (p.Asp393=)
c.1191C>T (p.Asp397=)
c.1041C>T (p.Asp347=)
c.1197C>T (p.Asp399=)
 COSMIC COSMIC
8g.115604751G>CCA372067894TRPS1c.1218C>G (p.Asp406Glu)
c.1179C>G (p.Asp393Glu)
c.1191C>G (p.Asp397Glu)
c.1041C>G (p.Asp347Glu)
c.1197C>G (p.Asp399Glu)
8g.115604751G>TCA372067895TRPS1c.1218C>A (p.Asp406Glu)
c.1179C>A (p.Asp393Glu)
c.1191C>A (p.Asp397Glu)
c.1041C>A (p.Asp347Glu)
c.1197C>A (p.Asp399Glu)
8g.115604752T>ACA372067896TRPS1c.1217A>T (p.Asp406Val)
c.1178A>T (p.Asp393Val)
c.1190A>T (p.Asp397Val)
c.1040A>T (p.Asp347Val)
c.1196A>T (p.Asp399Val)
8g.115604752T>CCA372067897TRPS1c.1217A>G (p.Asp406Gly)
c.1178A>G (p.Asp393Gly)
c.1190A>G (p.Asp397Gly)
c.1040A>G (p.Asp347Gly)
c.1196A>G (p.Asp399Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.115604752T>GCA372067898TRPS1c.1217A>C (p.Asp406Ala)
c.1178A>C (p.Asp393Ala)
c.1190A>C (p.Asp397Ala)
c.1040A>C (p.Asp347Ala)
c.1196A>C (p.Asp399Ala)
8g.115604752T=CA1812961420TRPS1c.1217A= (p.Asp406=)
c.1178A= (p.Asp393=)
c.1190A= (p.Asp397=)
c.1040A= (p.Asp347=)
c.1196A= (p.Asp399=)
8g.115604753C>ACA372067899TRPS1c.1216G>T (p.Asp406Tyr)
c.1177G>T (p.Asp393Tyr)
c.1189G>T (p.Asp397Tyr)
c.1039G>T (p.Asp347Tyr)
c.1195G>T (p.Asp399Tyr)
8g.115604753C>GCA372067900TRPS1c.1216G>C (p.Asp406His)
c.1177G>C (p.Asp393His)
c.1189G>C (p.Asp397His)
c.1039G>C (p.Asp347His)
c.1195G>C (p.Asp399His)
8g.115604753C>TCA372067901TRPS1c.1216G>A (p.Asp406Asn)
c.1177G>A (p.Asp393Asn)
c.1189G>A (p.Asp397Asn)
c.1039G>A (p.Asp347Asn)
c.1195G>A (p.Asp399Asn)
 gnomAD v4
8g.115604754T>ACA462659369TRPS1c.1215A>T (p.Gly405=)
c.1176A>T (p.Gly392=)
c.1188A>T (p.Gly396=)
c.1038A>T (p.Gly346=)
c.1194A>T (p.Gly398=)
 gnomAD v4
8g.115604754T>CCA462659374TRPS1c.1215A>G (p.Gly405=)
c.1176A>G (p.Gly392=)
c.1188A>G (p.Gly396=)
c.1038A>G (p.Gly346=)
c.1194A>G (p.Gly398=)
8g.115604754T>GCA462659377TRPS1c.1215A>C (p.Gly405=)
c.1176A>C (p.Gly392=)
c.1188A>C (p.Gly396=)
c.1038A>C (p.Gly346=)
c.1194A>C (p.Gly398=)
8g.115604755C>ACA372067902TRPS1c.1214G>T (p.Gly405Val)
c.1175G>T (p.Gly392Val)
c.1187G>T (p.Gly396Val)
c.1037G>T (p.Gly346Val)
c.1193G>T (p.Gly398Val)
8g.115604755C>GCA372067903TRPS1c.1214G>C (p.Gly405Ala)
c.1175G>C (p.Gly392Ala)
c.1187G>C (p.Gly396Ala)
c.1037G>C (p.Gly346Ala)
c.1193G>C (p.Gly398Ala)
8g.115604755C>TCA372067904TRPS1c.1214G>A (p.Gly405Glu)
c.1175G>A (p.Gly392Glu)
c.1187G>A (p.Gly396Glu)
c.1037G>A (p.Gly346Glu)
c.1193G>A (p.Gly398Glu)
8g.115604756C>ACA372067905TRPS1c.1213G>T (p.Gly405Ter)
c.1174G>T (p.Gly392Ter)
c.1186G>T (p.Gly396Ter)
c.1036G>T (p.Gly346Ter)
c.1192G>T (p.Gly398Ter)
8g.115604756C>GCA372067906TRPS1c.1213G>C (p.Gly405Arg)
c.1174G>C (p.Gly392Arg)
c.1186G>C (p.Gly396Arg)
c.1036G>C (p.Gly346Arg)
c.1192G>C (p.Gly398Arg)
8g.115604756C>TCA372067907TRPS1c.1213G>A (p.Gly405Arg)
c.1174G>A (p.Gly392Arg)
c.1186G>A (p.Gly396Arg)
c.1036G>A (p.Gly346Arg)
c.1192G>A (p.Gly398Arg)
8g.115604757A=CA1812961421TRPS1c.1212T= (p.Ser404=)
c.1173T= (p.Ser391=)
c.1185T= (p.Ser395=)
c.1035T= (p.Ser345=)
c.1191T= (p.Ser397=)
8g.115604757A>CCA462659390TRPS1c.1212T>G (p.Ser404=)
c.1173T>G (p.Ser391=)
c.1185T>G (p.Ser395=)
c.1035T>G (p.Ser345=)
c.1191T>G (p.Ser397=)
8g.115604757A>GCA4851859TRPS1c.1212T>C (p.Ser404=)
c.1173T>C (p.Ser391=)
c.1185T>C (p.Ser395=)
c.1035T>C (p.Ser345=)
c.1191T>C (p.Ser397=)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.115604757A>TCA462659391TRPS1c.1212T>A (p.Ser404=)
c.1173T>A (p.Ser391=)
c.1185T>A (p.Ser395=)
c.1035T>A (p.Ser345=)
c.1191T>A (p.Ser397=)
8g.115604758G>ACA372067909TRPS1c.1211C>T (p.Ser404Phe)
c.1172C>T (p.Ser391Phe)
c.1184C>T (p.Ser395Phe)
c.1034C>T (p.Ser345Phe)
c.1190C>T (p.Ser397Phe)
8g.115604758G>CCA372067908TRPS1c.1211C>G (p.Ser404Cys)
c.1172C>G (p.Ser391Cys)
c.1184C>G (p.Ser395Cys)
c.1034C>G (p.Ser345Cys)
c.1190C>G (p.Ser397Cys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.115604758G=CA1812961422TRPS1c.1211C= (p.Ser404=)
c.1172C= (p.Ser391=)
c.1184C= (p.Ser395=)
c.1034C= (p.Ser345=)
c.1190C= (p.Ser397=)
8g.115604758G>TCA372067910TRPS1c.1211C>A (p.Ser404Tyr)
c.1172C>A (p.Ser391Tyr)
c.1184C>A (p.Ser395Tyr)
c.1034C>A (p.Ser345Tyr)
c.1190C>A (p.Ser397Tyr)
8g.115604759A>CCA372067911TRPS1c.1210T>G (p.Ser404Ala)
c.1171T>G (p.Ser391Ala)
c.1183T>G (p.Ser395Ala)
c.1033T>G (p.Ser345Ala)
c.1189T>G (p.Ser397Ala)
8g.115604759A>GCA372067913TRPS1c.1210T>C (p.Ser404Pro)
c.1171T>C (p.Ser391Pro)
c.1183T>C (p.Ser395Pro)
c.1033T>C (p.Ser345Pro)
c.1189T>C (p.Ser397Pro)
 gnomAD v4
8g.115604759A>TCA372067912TRPS1c.1210T>A (p.Ser404Thr)
c.1171T>A (p.Ser391Thr)
c.1183T>A (p.Ser395Thr)
c.1033T>A (p.Ser345Thr)
c.1189T>A (p.Ser397Thr)
8g.115604760delCA2695201518TRPS1c.1210del (p.Ser404LeufsTer11)
c.1171del (p.Ser391LeufsTer11)
c.1183del (p.Ser395LeufsTer11)
c.1033del (p.Ser345LeufsTer11)
c.1189del (p.Ser397LeufsTer11)
 ClinVar
8g.115604760A=CA1812961423TRPS1c.1209T= (p.Asp403=)
c.1170T= (p.Asp390=)
c.1182T= (p.Asp394=)
c.1032T= (p.Asp344=)
c.1188T= (p.Asp396=)
8g.115604760A>CCA372067914TRPS1c.1209T>G (p.Asp403Glu)
c.1170T>G (p.Asp390Glu)
c.1182T>G (p.Asp394Glu)
c.1032T>G (p.Asp344Glu)
c.1188T>G (p.Asp396Glu)
8g.115604760A>GCA462659406TRPS1c.1209T>C (p.Asp403=)
c.1170T>C (p.Asp390=)
c.1182T>C (p.Asp394=)
c.1032T>C (p.Asp344=)
c.1188T>C (p.Asp396=)
 dbSNP
8g.115604760A>TCA372067915TRPS1c.1209T>A (p.Asp403Glu)
c.1170T>A (p.Asp390Glu)
c.1182T>A (p.Asp394Glu)
c.1032T>A (p.Asp344Glu)
c.1188T>A (p.Asp396Glu)
8g.115604761T>ACA372067916TRPS1c.1208A>T (p.Asp403Val)
c.1169A>T (p.Asp390Val)
c.1181A>T (p.Asp394Val)
c.1031A>T (p.Asp344Val)
c.1187A>T (p.Asp396Val)
8g.115604761T>CCA372067917TRPS1c.1208A>G (p.Asp403Gly)
c.1169A>G (p.Asp390Gly)
c.1181A>G (p.Asp394Gly)
c.1031A>G (p.Asp344Gly)
c.1187A>G (p.Asp396Gly)
8g.115604761T>GCA372067918TRPS1c.1208A>C (p.Asp403Ala)
c.1169A>C (p.Asp390Ala)
c.1181A>C (p.Asp394Ala)
c.1031A>C (p.Asp344Ala)
c.1187A>C (p.Asp396Ala)
 gnomAD v4
8g.115604762C>ACA372067919TRPS1c.1207G>T (p.Asp403Tyr)
c.1168G>T (p.Asp390Tyr)
c.1180G>T (p.Asp394Tyr)
c.1030G>T (p.Asp344Tyr)
c.1186G>T (p.Asp396Tyr)
 gnomAD v4
8g.115604762C>GCA372067920TRPS1c.1207G>C (p.Asp403His)
c.1168G>C (p.Asp390His)
c.1180G>C (p.Asp394His)
c.1030G>C (p.Asp344His)
c.1186G>C (p.Asp396His)
8g.115604762C>TCA372067921TRPS1c.1207G>A (p.Asp403Asn)
c.1168G>A (p.Asp390Asn)
c.1180G>A (p.Asp394Asn)
c.1030G>A (p.Asp344Asn)
c.1186G>A (p.Asp396Asn)
8g.115604763A>CCA372067922TRPS1c.1206T>G (p.Ser402Arg)
c.1167T>G (p.Ser389Arg)
c.1179T>G (p.Ser393Arg)
c.1029T>G (p.Ser343Arg)
c.1185T>G (p.Ser395Arg)
8g.115604763A>GCA462659414TRPS1c.1206T>C (p.Ser402=)
c.1167T>C (p.Ser389=)
c.1179T>C (p.Ser393=)
c.1029T>C (p.Ser343=)
c.1185T>C (p.Ser395=)
8g.115604763A>TCA372067923TRPS1c.1206T>A (p.Ser402Arg)
c.1167T>A (p.Ser389Arg)
c.1179T>A (p.Ser393Arg)
c.1029T>A (p.Ser343Arg)
c.1185T>A (p.Ser395Arg)
 gnomAD v4
8g.115604764C>ACA372067924TRPS1c.1205G>T (p.Ser402Ile)
c.1166G>T (p.Ser389Ile)
c.1178G>T (p.Ser393Ile)
c.1028G>T (p.Ser343Ile)
c.1184G>T (p.Ser395Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.115604764C=CA1812961424TRPS1c.1205G= (p.Ser402=)
c.1166G= (p.Ser389=)
c.1178G= (p.Ser393=)
c.1028G= (p.Ser343=)
c.1184G= (p.Ser395=)
8g.115604764C>GCA372067925TRPS1c.1205G>C (p.Ser402Thr)
c.1166G>C (p.Ser389Thr)
c.1178G>C (p.Ser393Thr)
c.1028G>C (p.Ser343Thr)
c.1184G>C (p.Ser395Thr)
8g.115604764C>TCA372067926TRPS1c.1205G>A (p.Ser402Asn)
c.1166G>A (p.Ser389Asn)
c.1178G>A (p.Ser393Asn)
c.1028G>A (p.Ser343Asn)
c.1184G>A (p.Ser395Asn)
8g.115604765T>ACA372067929TRPS1c.1204A>T (p.Ser402Cys)
c.1165A>T (p.Ser389Cys)
c.1177A>T (p.Ser393Cys)
c.1027A>T (p.Ser343Cys)
c.1183A>T (p.Ser395Cys)
8g.115604765T>CCA372067928TRPS1c.1204A>G (p.Ser402Gly)
c.1165A>G (p.Ser389Gly)
c.1177A>G (p.Ser393Gly)
c.1027A>G (p.Ser343Gly)
c.1183A>G (p.Ser395Gly)
8g.115604765T>GCA372067927TRPS1c.1204A>C (p.Ser402Arg)
c.1165A>C (p.Ser389Arg)
c.1177A>C (p.Ser393Arg)
c.1027A>C (p.Ser343Arg)
c.1183A>C (p.Ser395Arg)
8g.115604766G>ACA462659434TRPS1c.1203C>T (p.Ser401=)
c.1164C>T (p.Ser388=)
c.1176C>T (p.Ser392=)
c.1026C>T (p.Ser342=)
c.1182C>T (p.Ser394=)
8g.115604766G>CCA462659436TRPS1c.1203C>G (p.Ser401=)
c.1164C>G (p.Ser388=)
c.1176C>G (p.Ser392=)
c.1026C>G (p.Ser342=)
c.1182C>G (p.Ser394=)
8g.115604766G>TCA462659438TRPS1c.1203C>A (p.Ser401=)
c.1164C>A (p.Ser388=)
c.1176C>A (p.Ser392=)
c.1026C>A (p.Ser342=)
c.1182C>A (p.Ser394=)
8g.115604767G>ACA372067930TRPS1c.1202C>T (p.Ser401Phe)
c.1163C>T (p.Ser388Phe)
c.1175C>T (p.Ser392Phe)
c.1025C>T (p.Ser342Phe)
c.1181C>T (p.Ser394Phe)
8g.115604767G>CCA372067931TRPS1c.1202C>G (p.Ser401Cys)
c.1163C>G (p.Ser388Cys)
c.1175C>G (p.Ser392Cys)
c.1025C>G (p.Ser342Cys)
c.1181C>G (p.Ser394Cys)
 COSMIC COSMIC
8g.115604767G>TCA372067932TRPS1c.1202C>A (p.Ser401Tyr)
c.1163C>A (p.Ser388Tyr)
c.1175C>A (p.Ser392Tyr)
c.1025C>A (p.Ser342Tyr)
c.1181C>A (p.Ser394Tyr)
8g.115604768A>CCA372067933TRPS1c.1201T>G (p.Ser401Ala)
c.1162T>G (p.Ser388Ala)
c.1174T>G (p.Ser392Ala)
c.1024T>G (p.Ser342Ala)
c.1180T>G (p.Ser394Ala)
 gnomAD v4
8g.115604768A>GCA372067934TRPS1c.1201T>C (p.Ser401Pro)
c.1162T>C (p.Ser388Pro)
c.1174T>C (p.Ser392Pro)
c.1024T>C (p.Ser342Pro)
c.1180T>C (p.Ser394Pro)
8g.115604768A>TCA372067935TRPS1c.1201T>A (p.Ser401Thr)
c.1162T>A (p.Ser388Thr)
c.1174T>A (p.Ser392Thr)
c.1024T>A (p.Ser342Thr)
c.1180T>A (p.Ser394Thr)
8g.115604769T>ACA372067936TRPS1c.1200A>T (p.Gln400His)
c.1161A>T (p.Gln387His)
c.1173A>T (p.Gln391His)
c.1023A>T (p.Gln341His)
c.1179A>T (p.Gln393His)
8g.115604769T>CCA462659441TRPS1c.1200A>G (p.Gln400=)
c.1161A>G (p.Gln387=)
c.1173A>G (p.Gln391=)
c.1023A>G (p.Gln341=)
c.1179A>G (p.Gln393=)
 dbSNP gnomAD v3 gnomAD v4
8g.115604769T>GCA372067937TRPS1c.1200A>C (p.Gln400His)
c.1161A>C (p.Gln387His)
c.1173A>C (p.Gln391His)
c.1023A>C (p.Gln341His)
c.1179A>C (p.Gln393His)
8g.115604769T=CA1812961425TRPS1c.1200A= (p.Gln400=)
c.1161A= (p.Gln387=)
c.1173A= (p.Gln391=)
c.1023A= (p.Gln341=)
c.1179A= (p.Gln393=)
8g.115604770T>ACA372067938TRPS1c.1199A>T (p.Gln400Leu)
c.1160A>T (p.Gln387Leu)
c.1172A>T (p.Gln391Leu)
c.1022A>T (p.Gln341Leu)
c.1178A>T (p.Gln393Leu)
8g.115604770T>CCA372067939TRPS1c.1199A>G (p.Gln400Arg)
c.1160A>G (p.Gln387Arg)
c.1172A>G (p.Gln391Arg)
c.1022A>G (p.Gln341Arg)
c.1178A>G (p.Gln393Arg)
 dbSNP
8g.115604770T>GCA372067940TRPS1c.1199A>C (p.Gln400Pro)
c.1160A>C (p.Gln387Pro)
c.1172A>C (p.Gln391Pro)
c.1022A>C (p.Gln341Pro)
c.1178A>C (p.Gln393Pro)
8g.115604771G>ACA372067943TRPS1c.1198C>T (p.Gln400Ter)
c.1159C>T (p.Gln387Ter)
c.1171C>T (p.Gln391Ter)
c.1021C>T (p.Gln341Ter)
c.1177C>T (p.Gln393Ter)
8g.115604771G>CCA372067942TRPS1c.1198C>G (p.Gln400Glu)
c.1159C>G (p.Gln387Glu)
c.1171C>G (p.Gln391Glu)
c.1021C>G (p.Gln341Glu)
c.1177C>G (p.Gln393Glu)
8g.115604771G>TCA372067941TRPS1c.1198C>A (p.Gln400Lys)
c.1159C>A (p.Gln387Lys)
c.1171C>A (p.Gln391Lys)
c.1021C>A (p.Gln341Lys)
c.1177C>A (p.Gln393Lys)
8g.115604772A>CCA462659456TRPS1c.1197T>G (p.Leu399=)
c.1158T>G (p.Leu386=)
c.1170T>G (p.Leu390=)
c.1020T>G (p.Leu340=)
c.1176T>G (p.Leu392=)
8g.115604772A>GCA462659454TRPS1c.1197T>C (p.Leu399=)
c.1158T>C (p.Leu386=)
c.1170T>C (p.Leu390=)
c.1020T>C (p.Leu340=)
c.1176T>C (p.Leu392=)
8g.115604772A>TCA462659451TRPS1c.1197T>A (p.Leu399=)
c.1158T>A (p.Leu386=)
c.1170T>A (p.Leu390=)
c.1020T>A (p.Leu340=)
c.1176T>A (p.Leu392=)
8g.115604773A=CA1812961426TRPS1c.1196T= (p.Leu399=)
c.1157T= (p.Leu386=)
c.1169T= (p.Leu390=)
c.1019T= (p.Leu340=)
c.1175T= (p.Leu392=)
8g.115604773A>CCA372067944TRPS1c.1196T>G (p.Leu399Arg)
c.1157T>G (p.Leu386Arg)
c.1169T>G (p.Leu390Arg)
c.1019T>G (p.Leu340Arg)
c.1175T>G (p.Leu392Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.115604773A>GCA372067945TRPS1c.1196T>C (p.Leu399Pro)
c.1157T>C (p.Leu386Pro)
c.1169T>C (p.Leu390Pro)
c.1019T>C (p.Leu340Pro)
c.1175T>C (p.Leu392Pro)
8g.115604773A>TCA372067946TRPS1c.1196T>A (p.Leu399His)
c.1157T>A (p.Leu386His)
c.1169T>A (p.Leu390His)
c.1019T>A (p.Leu340His)
c.1175T>A (p.Leu392His)
8g.115604774G>ACA4851860TRPS1c.1195C>T (p.Leu399Phe)
c.1156C>T (p.Leu386Phe)
c.1168C>T (p.Leu390Phe)
c.1018C>T (p.Leu340Phe)
c.1174C>T (p.Leu392Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.115604774G>CCA372067947TRPS1c.1195C>G (p.Leu399Val)
c.1156C>G (p.Leu386Val)
c.1168C>G (p.Leu390Val)
c.1018C>G (p.Leu340Val)
c.1174C>G (p.Leu392Val)
8g.115604774G=CA1812961427TRPS1c.1195C= (p.Leu399=)
c.1156C= (p.Leu386=)
c.1168C= (p.Leu390=)
c.1018C= (p.Leu340=)
c.1174C= (p.Leu392=)
8g.115604774G>TCA372067948TRPS1c.1195C>A (p.Leu399Ile)
c.1156C>A (p.Leu386Ile)
c.1168C>A (p.Leu390Ile)
c.1018C>A (p.Leu340Ile)
c.1174C>A (p.Leu392Ile)
8g.115604775T>ACA462659461TRPS1c.1194A>T (p.Ala398=)
c.1155A>T (p.Ala385=)
c.1167A>T (p.Ala389=)
c.1017A>T (p.Ala339=)
c.1173A>T (p.Ala391=)
 gnomAD v4
8g.115604775T>CCA4851861TRPS1c.1194A>G (p.Ala398=)
c.1155A>G (p.Ala385=)
c.1167A>G (p.Ala389=)
c.1017A>G (p.Ala339=)
c.1173A>G (p.Ala391=)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
8g.115604775T>GCA462659464TRPS1c.1194A>C (p.Ala398=)
c.1155A>C (p.Ala385=)
c.1167A>C (p.Ala389=)
c.1017A>C (p.Ala339=)
c.1173A>C (p.Ala391=)
 dbSNP
8g.115604775T=CA1812961428TRPS1c.1194A= (p.Ala398=)
c.1155A= (p.Ala385=)
c.1167A= (p.Ala389=)
c.1017A= (p.Ala339=)
c.1173A= (p.Ala391=)
8g.115604776G>ACA4851862TRPS1c.1193C>T (p.Ala398Val)
c.1154C>T (p.Ala385Val)
c.1166C>T (p.Ala389Val)
c.1016C>T (p.Ala339Val)
c.1172C>T (p.Ala391Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.115604776G>CCA372067949TRPS1c.1193C>G (p.Ala398Gly)
c.1154C>G (p.Ala385Gly)
c.1166C>G (p.Ala389Gly)
c.1016C>G (p.Ala339Gly)
c.1172C>G (p.Ala391Gly)
8g.115604776G=CA1812961429TRPS1c.1193C= (p.Ala398=)
c.1154C= (p.Ala385=)
c.1166C= (p.Ala389=)
c.1016C= (p.Ala339=)
c.1172C= (p.Ala391=)
8g.115604776G>TCA372067950TRPS1c.1193C>A (p.Ala398Glu)
c.1154C>A (p.Ala385Glu)
c.1166C>A (p.Ala389Glu)
c.1016C>A (p.Ala339Glu)
c.1172C>A (p.Ala391Glu)
8g.115604777C>ACA372067951TRPS1c.1192G>T (p.Ala398Ser)
c.1153G>T (p.Ala385Ser)
c.1165G>T (p.Ala389Ser)
c.1015G>T (p.Ala339Ser)
c.1171G>T (p.Ala391Ser)
8g.115604777C>GCA372067952TRPS1c.1192G>C (p.Ala398Pro)
c.1153G>C (p.Ala385Pro)
c.1165G>C (p.Ala389Pro)
c.1015G>C (p.Ala339Pro)
c.1171G>C (p.Ala391Pro)
8g.115604777C>TCA372067953TRPS1c.1192G>A (p.Ala398Thr)
c.1153G>A (p.Ala385Thr)
c.1165G>A (p.Ala389Thr)
c.1015G>A (p.Ala339Thr)
c.1171G>A (p.Ala391Thr)
8g.115604778A=CA1812961430TRPS1c.1191T= (p.Pro397=)
c.1152T= (p.Pro384=)
c.1164T= (p.Pro388=)
c.1014T= (p.Pro338=)
c.1170T= (p.Pro390=)
8g.115604778A>CCA462659472TRPS1c.1191T>G (p.Pro397=)
c.1152T>G (p.Pro384=)
c.1164T>G (p.Pro388=)
c.1014T>G (p.Pro338=)
c.1170T>G (p.Pro390=)
8g.115604778A>GCA462659473TRPS1c.1191T>C (p.Pro397=)
c.1152T>C (p.Pro384=)
c.1164T>C (p.Pro388=)
c.1014T>C (p.Pro338=)
c.1170T>C (p.Pro390=)
 dbSNP gnomAD v4
8g.115604778A>TCA462659474TRPS1c.1191T>A (p.Pro397=)
c.1152T>A (p.Pro384=)
c.1164T>A (p.Pro388=)
c.1014T>A (p.Pro338=)
c.1170T>A (p.Pro390=)
 COSMIC COSMIC
8g.115604779G>ACA372067954TRPS1c.1190C>T (p.Pro397Leu)
c.1151C>T (p.Pro384Leu)
c.1163C>T (p.Pro388Leu)
c.1013C>T (p.Pro338Leu)
c.1169C>T (p.Pro390Leu)
8g.115604779G>CCA372067956TRPS1c.1190C>G (p.Pro397Arg)
c.1151C>G (p.Pro384Arg)
c.1163C>G (p.Pro388Arg)
c.1013C>G (p.Pro338Arg)
c.1169C>G (p.Pro390Arg)
8g.115604779G>TCA372067955TRPS1c.1190C>A (p.Pro397His)
c.1151C>A (p.Pro384His)
c.1163C>A (p.Pro388His)
c.1013C>A (p.Pro338His)
c.1169C>A (p.Pro390His)
8g.115604780G>ACA372067957TRPS1c.1189C>T (p.Pro397Ser)
c.1150C>T (p.Pro384Ser)
c.1162C>T (p.Pro388Ser)
c.1012C>T (p.Pro338Ser)
c.1168C>T (p.Pro390Ser)
8g.115604780G>CCA372067958TRPS1c.1189C>G (p.Pro397Ala)
c.1150C>G (p.Pro384Ala)
c.1162C>G (p.Pro388Ala)
c.1012C>G (p.Pro338Ala)
c.1168C>G (p.Pro390Ala)
8g.115604780G>TCA372067959TRPS1c.1189C>A (p.Pro397Thr)
c.1150C>A (p.Pro384Thr)
c.1162C>A (p.Pro388Thr)
c.1012C>A (p.Pro338Thr)
c.1168C>A (p.Pro390Thr)
8g.115604781G>ACA462659477TRPS1c.1188C>T (p.Ile396=)
c.1149C>T (p.Ile383=)
c.1161C>T (p.Ile387=)
c.1011C>T (p.Ile337=)
c.1167C>T (p.Ile389=)
8g.115604781G>CCA372067960TRPS1c.1188C>G (p.Ile396Met)
c.1149C>G (p.Ile383Met)
c.1161C>G (p.Ile387Met)
c.1011C>G (p.Ile337Met)
c.1167C>G (p.Ile389Met)
8g.115604781G>TCA462659478TRPS1c.1188C>A (p.Ile396=)
c.1149C>A (p.Ile383=)
c.1161C>A (p.Ile387=)
c.1011C>A (p.Ile337=)
c.1167C>A (p.Ile389=)
8g.115604782A>CCA372067961TRPS1c.1187T>G (p.Ile396Ser)
c.1148T>G (p.Ile383Ser)
c.1160T>G (p.Ile387Ser)
c.1010T>G (p.Ile337Ser)
c.1166T>G (p.Ile389Ser)
8g.115604782A>GCA372067962TRPS1c.1187T>C (p.Ile396Thr)
c.1148T>C (p.Ile383Thr)
c.1160T>C (p.Ile387Thr)
c.1010T>C (p.Ile337Thr)
c.1166T>C (p.Ile389Thr)
 gnomAD v4
8g.115604782A>TCA372067963TRPS1c.1187T>A (p.Ile396Asn)
c.1148T>A (p.Ile383Asn)
c.1160T>A (p.Ile387Asn)
c.1010T>A (p.Ile337Asn)
c.1166T>A (p.Ile389Asn)
8g.115604783T>ACA4851863TRPS1c.1186A>T (p.Ile396Phe)
c.1147A>T (p.Ile383Phe)
c.1159A>T (p.Ile387Phe)
c.1009A>T (p.Ile337Phe)
c.1165A>T (p.Ile389Phe)
 dbSNP ExAC gnomAD v2
8g.115604783T>CCA372067964TRPS1c.1186A>G (p.Ile396Val)
c.1147A>G (p.Ile383Val)
c.1159A>G (p.Ile387Val)
c.1009A>G (p.Ile337Val)
c.1165A>G (p.Ile389Val)
8g.115604783T>GCA372067965TRPS1c.1186A>C (p.Ile396Leu)
c.1147A>C (p.Ile383Leu)
c.1159A>C (p.Ile387Leu)
c.1009A>C (p.Ile337Leu)
c.1165A>C (p.Ile389Leu)
8g.115604783T=CA1812961431TRPS1c.1186A= (p.Ile396=)
c.1147A= (p.Ile383=)
c.1159A= (p.Ile387=)
c.1009A= (p.Ile337=)
c.1165A= (p.Ile389=)
8g.115604784G>ACA4851864TRPS1c.1185C>T (p.Ser395=)
c.1146C>T (p.Ser382=)
c.1158C>T (p.Ser386=)
c.1008C>T (p.Ser336=)
c.1164C>T (p.Ser388=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.115604784G>CCA462659482TRPS1c.1185C>G (p.Ser395=)
c.1146C>G (p.Ser382=)
c.1158C>G (p.Ser386=)
c.1008C>G (p.Ser336=)
c.1164C>G (p.Ser388=)
8g.115604784G=CA1812961432TRPS1c.1185C= (p.Ser395=)
c.1146C= (p.Ser382=)
c.1158C= (p.Ser386=)
c.1008C= (p.Ser336=)
c.1164C= (p.Ser388=)
8g.115604784G>TCA462659483TRPS1c.1185C>A (p.Ser395=)
c.1146C>A (p.Ser382=)
c.1158C>A (p.Ser386=)
c.1008C>A (p.Ser336=)
c.1164C>A (p.Ser388=)
8g.115604785G>ACA372067967TRPS1c.1184C>T (p.Ser395Phe)
c.1145C>T (p.Ser382Phe)
c.1157C>T (p.Ser386Phe)
c.1007C>T (p.Ser336Phe)
c.1163C>T (p.Ser388Phe)
8g.115604785G>CCA372067968TRPS1c.1184C>G (p.Ser395Cys)
c.1145C>G (p.Ser382Cys)
c.1157C>G (p.Ser386Cys)
c.1007C>G (p.Ser336Cys)
c.1163C>G (p.Ser388Cys)
8g.115604785G>TCA372067966TRPS1c.1184C>A (p.Ser395Tyr)
c.1145C>A (p.Ser382Tyr)
c.1157C>A (p.Ser386Tyr)
c.1007C>A (p.Ser336Tyr)
c.1163C>A (p.Ser388Tyr)
 gnomAD v4
8g.115604786A>CCA372067971TRPS1c.1183T>G (p.Ser395Ala)
c.1144T>G (p.Ser382Ala)
c.1156T>G (p.Ser386Ala)
c.1006T>G (p.Ser336Ala)
c.1162T>G (p.Ser388Ala)
8g.115604786A>GCA372067969TRPS1c.1183T>C (p.Ser395Pro)
c.1144T>C (p.Ser382Pro)
c.1156T>C (p.Ser386Pro)
c.1006T>C (p.Ser336Pro)
c.1162T>C (p.Ser388Pro)
8g.115604786A>TCA372067970TRPS1c.1183T>A (p.Ser395Thr)
c.1144T>A (p.Ser382Thr)
c.1156T>A (p.Ser386Thr)
c.1006T>A (p.Ser336Thr)
c.1162T>A (p.Ser388Thr)
8g.115604787C>ACA372067972TRPS1c.1182G>T (p.Lys394Asn)
c.1143G>T (p.Lys381Asn)
c.1155G>T (p.Lys385Asn)
c.1005G>T (p.Lys335Asn)
c.1161G>T (p.Lys387Asn)
8g.115604787C>GCA372067973TRPS1c.1182G>C (p.Lys394Asn)
c.1143G>C (p.Lys381Asn)
c.1155G>C (p.Lys385Asn)
c.1005G>C (p.Lys335Asn)
c.1161G>C (p.Lys387Asn)
8g.115604787C>TCA462659490TRPS1c.1182G>A (p.Lys394=)
c.1143G>A (p.Lys381=)
c.1155G>A (p.Lys385=)
c.1005G>A (p.Lys335=)
c.1161G>A (p.Lys387=)
 gnomAD v4 COSMIC COSMIC
8g.115604788T>ACA372067974TRPS1c.1181A>T (p.Lys394Met)
c.1142A>T (p.Lys381Met)
c.1154A>T (p.Lys385Met)
c.1004A>T (p.Lys335Met)
c.1160A>T (p.Lys387Met)
8g.115604788T>CCA372067975TRPS1c.1181A>G (p.Lys394Arg)
c.1142A>G (p.Lys381Arg)
c.1154A>G (p.Lys385Arg)
c.1004A>G (p.Lys335Arg)
c.1160A>G (p.Lys387Arg)
8g.115604788T>GCA372067976TRPS1c.1181A>C (p.Lys394Thr)
c.1142A>C (p.Lys381Thr)
c.1154A>C (p.Lys385Thr)
c.1004A>C (p.Lys335Thr)
c.1160A>C (p.Lys387Thr)
8g.115604789T>ACA372067977TRPS1c.1180A>T (p.Lys394Ter)
c.1141A>T (p.Lys381Ter)
c.1153A>T (p.Lys385Ter)
c.1003A>T (p.Lys335Ter)
c.1159A>T (p.Lys387Ter)
 ClinVar dbSNP
8g.115604789T>CCA372067978TRPS1c.1180A>G (p.Lys394Glu)
c.1141A>G (p.Lys381Glu)
c.1153A>G (p.Lys385Glu)
c.1003A>G (p.Lys335Glu)
c.1159A>G (p.Lys387Glu)
 dbSNP gnomAD v2 gnomAD v4
8g.115604789T>GCA372067979TRPS1c.1180A>C (p.Lys394Gln)
c.1141A>C (p.Lys381Gln)
c.1153A>C (p.Lys385Gln)
c.1003A>C (p.Lys335Gln)
c.1159A>C (p.Lys387Gln)
8g.115604789T=CA1812961433TRPS1c.1180A= (p.Lys394=)
c.1141A= (p.Lys381=)
c.1153A= (p.Lys385=)
c.1003A= (p.Lys335=)
c.1159A= (p.Lys387=)
8g.115604789_115604793delinsTGTTACA1812961434TRPS1c.1176_1180delinsTAACA (p.Ser392=)
c.1137_1141delinsTAACA (p.Ser379=)
c.1149_1153delinsTAACA (p.Ser383=)
c.999_1003delinsTAACA (p.Ser333=)
c.1155_1159delinsTAACA (p.Ser385=)
8g.115604790G>ACA4851865TRPS1c.1179C>T (p.Asn393=)
c.1140C>T (p.Asn380=)
c.1152C>T (p.Asn384=)
c.1002C>T (p.Asn334=)
c.1158C>T (p.Asn386=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.115604790G>CCA372067980TRPS1c.1179C>G (p.Asn393Lys)
c.1140C>G (p.Asn380Lys)
c.1152C>G (p.Asn384Lys)
c.1002C>G (p.Asn334Lys)
c.1158C>G (p.Asn386Lys)
8g.115604790G=CA1812961435TRPS1c.1179C= (p.Asn393=)
c.1140C= (p.Asn380=)
c.1152C= (p.Asn384=)
c.1002C= (p.Asn334=)
c.1158C= (p.Asn386=)
8g.115604790G>TCA372067981TRPS1c.1179C>A (p.Asn393Lys)
c.1140C>A (p.Asn380Lys)
c.1152C>A (p.Asn384Lys)
c.1002C>A (p.Asn334Lys)
c.1158C>A (p.Asn386Lys)
 gnomAD v4
8g.115604790delinsTACA2695210256TRPS1c.1179delinsTA (p.Ser395ValfsTer9)
c.1140delinsTA (p.Ser382ValfsTer9)
c.1152delinsTA (p.Ser386ValfsTer9)
c.1002delinsTA (p.Ser336ValfsTer9)
c.1158delinsTA (p.Ser388ValfsTer9)
8g.115604791_115604794delCA916083009TRPS1c.1176_1179del (p.Asn393SerfsTer21)
c.1137_1140del (p.Asn380SerfsTer21)
c.1149_1152del (p.Asn384SerfsTer21)
c.999_1002del (p.Asn334SerfsTer21)
c.1155_1158del (p.Asn386SerfsTer21)
 ClinVar dbSNP
8g.115604791T>ACA372067982TRPS1c.1178A>T (p.Asn393Ile)
c.1139A>T (p.Asn380Ile)
c.1151A>T (p.Asn384Ile)
c.1001A>T (p.Asn334Ile)
c.1157A>T (p.Asn386Ile)
 gnomAD v4
8g.115604791T>CCA372067984TRPS1c.1178A>G (p.Asn393Ser)
c.1139A>G (p.Asn380Ser)
c.1151A>G (p.Asn384Ser)
c.1001A>G (p.Asn334Ser)
c.1157A>G (p.Asn386Ser)
 dbSNP gnomAD v2 gnomAD v4
8g.115604791T>GCA372067983TRPS1c.1178A>C (p.Asn393Thr)
c.1139A>C (p.Asn380Thr)
c.1151A>C (p.Asn384Thr)
c.1001A>C (p.Asn334Thr)
c.1157A>C (p.Asn386Thr)
8g.115604791T=CA1812961436TRPS1c.1178A= (p.Asn393=)
c.1139A= (p.Asn380=)
c.1151A= (p.Asn384=)
c.1001A= (p.Asn334=)
c.1157A= (p.Asn386=)
8g.115604792T>ACA4851866TRPS1c.1177A>T (p.Asn393Tyr)
c.1138A>T (p.Asn380Tyr)
c.1150A>T (p.Asn384Tyr)
c.1000A>T (p.Asn334Tyr)
c.1156A>T (p.Asn386Tyr)
 dbSNP ExAC gnomAD v2
8g.115604792T>CCA372067985TRPS1c.1177A>G (p.Asn393Asp)
c.1138A>G (p.Asn380Asp)
c.1150A>G (p.Asn384Asp)
c.1000A>G (p.Asn334Asp)
c.1156A>G (p.Asn386Asp)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
8g.115604792T>GCA372067986TRPS1c.1177A>C (p.Asn393His)
c.1138A>C (p.Asn380His)
c.1150A>C (p.Asn384His)
c.1000A>C (p.Asn334His)
c.1156A>C (p.Asn386His)
8g.115604792T=CA1812961438TRPS1c.1177A= (p.Asn393=)
c.1138A= (p.Asn380=)
c.1150A= (p.Asn384=)
c.1000A= (p.Asn334=)
c.1156A= (p.Asn386=)
8g.115604792_115604794delinsTAGCA1812961437TRPS1c.1175_1177delinsCTA (p.Ser392=)
c.1136_1138delinsCTA (p.Ser379=)
c.1148_1150delinsCTA (p.Ser383=)
c.998_1000delinsCTA (p.Ser333=)
c.1154_1156delinsCTA (p.Ser385=)
8g.115604793A>CCA462659509TRPS1c.1176T>G (p.Ser392=)
c.1137T>G (p.Ser379=)
c.1149T>G (p.Ser383=)
c.999T>G (p.Ser333=)
c.1155T>G (p.Ser385=)
 COSMIC COSMIC
8g.115604793A>GCA462659510TRPS1c.1176T>C (p.Ser392=)
c.1137T>C (p.Ser379=)
c.1149T>C (p.Ser383=)
c.999T>C (p.Ser333=)
c.1155T>C (p.Ser385=)
8g.115604793A>TCA462659511TRPS1c.1176T>A (p.Ser392=)
c.1137T>A (p.Ser379=)
c.1149T>A (p.Ser383=)
c.999T>A (p.Ser333=)
c.1155T>A (p.Ser385=)
8g.115604793dupCA645509423TRPS1c.1176dup (p.Asn393Ter)
c.1137dup (p.Asn380Ter)
c.1149dup (p.Asn384Ter)
c.999dup (p.Asn334Ter)
c.1155dup (p.Asn386Ter)
 ClinVar dbSNP
8g.115604795_115604796delCA913189880TRPS1c.1175_1176del (p.Ser392Ter)
c.1136_1137del (p.Ser379Ter)
c.1148_1149del (p.Ser383Ter)
c.998_999del (p.Ser333Ter)
c.1154_1155del (p.Ser385Ter)
 ClinVar dbSNP
8g.115604794G>ACA372067987TRPS1c.1175C>T (p.Ser392Phe)
c.1136C>T (p.Ser379Phe)
c.1148C>T (p.Ser383Phe)
c.998C>T (p.Ser333Phe)
c.1154C>T (p.Ser385Phe)
8g.115604794G>CCA372067988TRPS1c.1175C>G (p.Ser392Cys)
c.1136C>G (p.Ser379Cys)
c.1148C>G (p.Ser383Cys)
c.998C>G (p.Ser333Cys)
c.1154C>G (p.Ser385Cys)
8g.115604794G>TCA372067989TRPS1c.1175C>A (p.Ser392Tyr)
c.1136C>A (p.Ser379Tyr)
c.1148C>A (p.Ser383Tyr)
c.998C>A (p.Ser333Tyr)
c.1154C>A (p.Ser385Tyr)
8g.115604795A>CCA372067990TRPS1c.1174T>G (p.Ser392Ala)
c.1135T>G (p.Ser379Ala)
c.1147T>G (p.Ser383Ala)
c.997T>G (p.Ser333Ala)
c.1153T>G (p.Ser385Ala)
8g.115604795A>GCA372067991TRPS1c.1174T>C (p.Ser392Pro)
c.1135T>C (p.Ser379Pro)
c.1147T>C (p.Ser383Pro)
c.997T>C (p.Ser333Pro)
c.1153T>C (p.Ser385Pro)
8g.115604795A>TCA372067992TRPS1c.1174T>A (p.Ser392Thr)
c.1135T>A (p.Ser379Thr)
c.1147T>A (p.Ser383Thr)
c.997T>A (p.Ser333Thr)
c.1153T>A (p.Ser385Thr)
8g.115604796G>ACA462659522TRPS1c.1173C>T (p.Asn391=)
c.1134C>T (p.Asn378=)
c.1146C>T (p.Asn382=)
c.996C>T (p.Asn332=)
c.1152C>T (p.Asn384=)
 gnomAD v4
8g.115604796G>CCA372067993TRPS1c.1173C>G (p.Asn391Lys)
c.1134C>G (p.Asn378Lys)
c.1146C>G (p.Asn382Lys)
c.996C>G (p.Asn332Lys)
c.1152C>G (p.Asn384Lys)
 dbSNP
8g.115604796G=CA1812961439TRPS1c.1173C= (p.Asn391=)
c.1134C= (p.Asn378=)
c.1146C= (p.Asn382=)
c.996C= (p.Asn332=)
c.1152C= (p.Asn384=)
8g.115604796G>TCA372067994TRPS1c.1173C>A (p.Asn391Lys)
c.1134C>A (p.Asn378Lys)
c.1146C>A (p.Asn382Lys)
c.996C>A (p.Asn332Lys)
c.1152C>A (p.Asn384Lys)
8g.115604797T>ACA372067996TRPS1c.1172A>T (p.Asn391Ile)
c.1133A>T (p.Asn378Ile)
c.1145A>T (p.Asn382Ile)
c.995A>T (p.Asn332Ile)
c.1151A>T (p.Asn384Ile)
8g.115604797T>CCA372067997TRPS1c.1172A>G (p.Asn391Ser)
c.1133A>G (p.Asn378Ser)
c.1145A>G (p.Asn382Ser)
c.995A>G (p.Asn332Ser)
c.1151A>G (p.Asn384Ser)
8g.115604797T>GCA372067995TRPS1c.1172A>C (p.Asn391Thr)
c.1133A>C (p.Asn378Thr)
c.1145A>C (p.Asn382Thr)
c.995A>C (p.Asn332Thr)
c.1151A>C (p.Asn384Thr)
 gnomAD v4
8g.115604801delCA645544656TRPS1c.1172del (p.Asn391ThrfsTer24)
c.1133del (p.Asn378ThrfsTer24)
c.1145del (p.Asn382ThrfsTer24)
c.995del (p.Asn332ThrfsTer24)
c.1151del (p.Asn384ThrfsTer24)
 COSMIC COSMIC
8g.115604798T>ACA372067998TRPS1c.1171A>T (p.Asn391Tyr)
c.1132A>T (p.Asn378Tyr)
c.1144A>T (p.Asn382Tyr)
c.994A>T (p.Asn332Tyr)
c.1150A>T (p.Asn384Tyr)
8g.115604798T>CCA372067999TRPS1c.1171A>G (p.Asn391Asp)
c.1132A>G (p.Asn378Asp)
c.1144A>G (p.Asn382Asp)
c.994A>G (p.Asn332Asp)
c.1150A>G (p.Asn384Asp)
8g.115604798T>GCA4851867TRPS1c.1171A>C (p.Asn391His)
c.1132A>C (p.Asn378His)
c.1144A>C (p.Asn382His)
c.994A>C (p.Asn332His)
c.1150A>C (p.Asn384His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.115604798T=CA1812961440TRPS1c.1171A= (p.Asn391=)
c.1132A= (p.Asn378=)
c.1144A= (p.Asn382=)
c.994A= (p.Asn332=)
c.1150A= (p.Asn384=)
8g.115604799T>ACA372068000TRPS1c.1170A>T (p.Lys390Asn)
c.1131A>T (p.Lys377Asn)
c.1143A>T (p.Lys381Asn)
c.993A>T (p.Lys331Asn)
c.1149A>T (p.Lys383Asn)
8g.115604799T>CCA462659524TRPS1c.1170A>G (p.Lys390=)
c.1131A>G (p.Lys377=)
c.1143A>G (p.Lys381=)
c.993A>G (p.Lys331=)
c.1149A>G (p.Lys383=)
8g.115604799T>GCA372068001TRPS1c.1170A>C (p.Lys390Asn)
c.1131A>C (p.Lys377Asn)
c.1143A>C (p.Lys381Asn)
c.993A>C (p.Lys331Asn)
c.1149A>C (p.Lys383Asn)
8g.115604800T>ACA372068002TRPS1c.1169A>T (p.Lys390Ile)
c.1130A>T (p.Lys377Ile)
c.1142A>T (p.Lys381Ile)
c.992A>T (p.Lys331Ile)
c.1148A>T (p.Lys383Ile)
8g.115604800T>CCA372068003TRPS1c.1169A>G (p.Lys390Arg)
c.1130A>G (p.Lys377Arg)
c.1142A>G (p.Lys381Arg)
c.992A>G (p.Lys331Arg)
c.1148A>G (p.Lys383Arg)
8g.115604800T>GCA372068004TRPS1c.1169A>C (p.Lys390Thr)
c.1130A>C (p.Lys377Thr)
c.1142A>C (p.Lys381Thr)
c.992A>C (p.Lys331Thr)
c.1148A>C (p.Lys383Thr)
8g.115604801T>ACA372068005TRPS1c.1168A>T (p.Lys390Ter)
c.1129A>T (p.Lys377Ter)
c.1141A>T (p.Lys381Ter)
c.991A>T (p.Lys331Ter)
c.1147A>T (p.Lys383Ter)
8g.115604801T>CCA372068006TRPS1c.1168A>G (p.Lys390Glu)
c.1129A>G (p.Lys377Glu)
c.1141A>G (p.Lys381Glu)
c.991A>G (p.Lys331Glu)
c.1147A>G (p.Lys383Glu)
8g.115604801T>GCA372068007TRPS1c.1168A>C (p.Lys390Gln)
c.1129A>C (p.Lys377Gln)
c.1141A>C (p.Lys381Gln)
c.991A>C (p.Lys331Gln)
c.1147A>C (p.Lys383Gln)
8g.115604802C>ACA372068008TRPS1c.1167G>T (p.Glu389Asp)
c.1128G>T (p.Glu376Asp)
c.1140G>T (p.Glu380Asp)
c.990G>T (p.Glu330Asp)
c.1146G>T (p.Glu382Asp)
8g.115604802C>GCA372068009TRPS1c.1167G>C (p.Glu389Asp)
c.1128G>C (p.Glu376Asp)
c.1140G>C (p.Glu380Asp)
c.990G>C (p.Glu330Asp)
c.1146G>C (p.Glu382Asp)
 gnomAD v4
8g.115604802C>TCA462659532TRPS1c.1167G>A (p.Glu389=)
c.1128G>A (p.Glu376=)
c.1140G>A (p.Glu380=)
c.990G>A (p.Glu330=)
c.1146G>A (p.Glu382=)
 gnomAD v4
8g.115604803T>ACA372068012TRPS1c.1166A>T (p.Glu389Val)
c.1127A>T (p.Glu376Val)
c.1139A>T (p.Glu380Val)
c.989A>T (p.Glu330Val)
c.1145A>T (p.Glu382Val)
8g.115604803T>CCA372068011TRPS1c.1166A>G (p.Glu389Gly)
c.1127A>G (p.Glu376Gly)
c.1139A>G (p.Glu380Gly)
c.989A>G (p.Glu330Gly)
c.1145A>G (p.Glu382Gly)
8g.115604803T>GCA372068010TRPS1c.1166A>C (p.Glu389Ala)
c.1127A>C (p.Glu376Ala)
c.1139A>C (p.Glu380Ala)
c.989A>C (p.Glu330Ala)
c.1145A>C (p.Glu382Ala)
8g.115604803_115604804insACA2533067082TRPS1c.1165_1166insT (p.Glu389ValfsTer5)
c.1126_1127insT (p.Glu376ValfsTer5)
c.1138_1139insT (p.Glu380ValfsTer5)
c.988_989insT (p.Glu330ValfsTer5)
c.1144_1145insT (p.Glu382ValfsTer5)
8g.115604804C>ACA372068013TRPS1c.1165G>T (p.Glu389Ter)
c.1126G>T (p.Glu376Ter)
c.1138G>T (p.Glu380Ter)
c.988G>T (p.Glu330Ter)
c.1144G>T (p.Glu382Ter)
8g.115604804C>GCA372068014TRPS1c.1165G>C (p.Glu389Gln)
c.1126G>C (p.Glu376Gln)
c.1138G>C (p.Glu380Gln)
c.988G>C (p.Glu330Gln)
c.1144G>C (p.Glu382Gln)
8g.115604804C>TCA372068015TRPS1c.1165G>A (p.Glu389Lys)
c.1126G>A (p.Glu376Lys)
c.1138G>A (p.Glu380Lys)
c.988G>A (p.Glu330Lys)
c.1144G>A (p.Glu382Lys)
8g.115604805T>ACA462659541TRPS1c.1164A>T (p.Ser388=)
c.1125A>T (p.Ser375=)
c.1137A>T (p.Ser379=)
c.987A>T (p.Ser329=)
c.1143A>T (p.Ser381=)
8g.115604805T>CCA4851868TRPS1c.1164A>G (p.Ser388=)
c.1125A>G (p.Ser375=)
c.1137A>G (p.Ser379=)
c.987A>G (p.Ser329=)
c.1143A>G (p.Ser381=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.115604805T>GCA462659546TRPS1c.1164A>C (p.Ser388=)
c.1125A>C (p.Ser375=)
c.1137A>C (p.Ser379=)
c.987A>C (p.Ser329=)
c.1143A>C (p.Ser381=)
8g.115604805T=CA1812961441TRPS1c.1164A= (p.Ser388=)
c.1125A= (p.Ser375=)
c.1137A= (p.Ser379=)
c.987A= (p.Ser329=)
c.1143A= (p.Ser381=)
8g.115604806G>ACA372068016TRPS1c.1163C>T (p.Ser388Leu)
c.1124C>T (p.Ser375Leu)
c.1136C>T (p.Ser379Leu)
c.986C>T (p.Ser329Leu)
c.1142C>T (p.Ser381Leu)
 COSMIC COSMIC
8g.115604806G>CCA372068017TRPS1c.1163C>G (p.Ser388Ter)
c.1124C>G (p.Ser375Ter)
c.1136C>G (p.Ser379Ter)
c.986C>G (p.Ser329Ter)
c.1142C>G (p.Ser381Ter)
 ClinVar dbSNP
8g.115604806G>TCA372068018TRPS1c.1163C>A (p.Ser388Ter)
c.1124C>A (p.Ser375Ter)
c.1136C>A (p.Ser379Ter)
c.986C>A (p.Ser329Ter)
c.1142C>A (p.Ser381Ter)
8g.115604807A=CA1812961442TRPS1c.1162T= (p.Ser388=)
c.1123T= (p.Ser375=)
c.1135T= (p.Ser379=)
c.985T= (p.Ser329=)
c.1141T= (p.Ser381=)
8g.115604807A>CCA4851869TRPS1c.1162T>G (p.Ser388Ala)
c.1123T>G (p.Ser375Ala)
c.1135T>G (p.Ser379Ala)
c.985T>G (p.Ser329Ala)
c.1141T>G (p.Ser381Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.115604807A>GCA372068019TRPS1c.1162T>C (p.Ser388Pro)
c.1123T>C (p.Ser375Pro)
c.1135T>C (p.Ser379Pro)
c.985T>C (p.Ser329Pro)
c.1141T>C (p.Ser381Pro)
8g.115604807A>TCA372068020TRPS1c.1162T>A (p.Ser388Thr)
c.1123T>A (p.Ser375Thr)
c.1135T>A (p.Ser379Thr)
c.985T>A (p.Ser329Thr)
c.1141T>A (p.Ser381Thr)
8g.115604808delCA2830545573TRPS1c.1162del (p.Ser388GlnfsTer27)
c.1123del (p.Ser375GlnfsTer27)
c.1135del (p.Ser379GlnfsTer27)
c.985del (p.Ser329GlnfsTer27)
c.1141del (p.Ser381GlnfsTer27)
8g.115604808A>CCA462659555TRPS1c.1161T>G (p.Pro387=)
c.1122T>G (p.Pro374=)
c.1134T>G (p.Pro378=)
c.984T>G (p.Pro328=)
c.1140T>G (p.Pro380=)
8g.115604808A>GCA462659556TRPS1c.1161T>C (p.Pro387=)
c.1122T>C (p.Pro374=)
c.1134T>C (p.Pro378=)
c.984T>C (p.Pro328=)
c.1140T>C (p.Pro380=)
8g.115604808A>TCA462659557TRPS1c.1161T>A (p.Pro387=)
c.1122T>A (p.Pro374=)
c.1134T>A (p.Pro378=)
c.984T>A (p.Pro328=)
c.1140T>A (p.Pro380=)
8g.115604809G>ACA4851870TRPS1c.1160C>T (p.Pro387Leu)
c.1121C>T (p.Pro374Leu)
c.1133C>T (p.Pro378Leu)
c.983C>T (p.Pro328Leu)
c.1139C>T (p.Pro380Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.115604809G>CCA372068021TRPS1c.1160C>G (p.Pro387Arg)
c.1121C>G (p.Pro374Arg)
c.1133C>G (p.Pro378Arg)
c.983C>G (p.Pro328Arg)
c.1139C>G (p.Pro380Arg)
8g.115604809G=CA1812961443TRPS1c.1160C= (p.Pro387=)
c.1121C= (p.Pro374=)
c.1133C= (p.Pro378=)
c.983C= (p.Pro328=)
c.1139C= (p.Pro380=)
8g.115604809G>TCA372068022TRPS1c.1160C>A (p.Pro387His)
c.1121C>A (p.Pro374His)
c.1133C>A (p.Pro378His)
c.983C>A (p.Pro328His)
c.1139C>A (p.Pro380His)
8g.115604810delCA2520102937TRPS1c.1160del (p.Pro387LeufsTer28)
c.1121del (p.Pro374LeufsTer28)
c.1133del (p.Pro378LeufsTer28)
c.983del (p.Pro328LeufsTer28)
c.1139del (p.Pro380LeufsTer28)
8g.115604810G>ACA372068025TRPS1c.1159C>T (p.Pro387Ser)
c.1120C>T (p.Pro374Ser)
c.1132C>T (p.Pro378Ser)
c.982C>T (p.Pro328Ser)
c.1138C>T (p.Pro380Ser)
8g.115604810G>CCA372068024TRPS1c.1159C>G (p.Pro387Ala)
c.1120C>G (p.Pro374Ala)
c.1132C>G (p.Pro378Ala)
c.982C>G (p.Pro328Ala)
c.1138C>G (p.Pro380Ala)
 dbSNP gnomAD v4
8g.115604810G=CA1812961444TRPS1c.1159C= (p.Pro387=)
c.1120C= (p.Pro374=)
c.1132C= (p.Pro378=)
c.982C= (p.Pro328=)
c.1138C= (p.Pro380=)
8g.115604810G>TCA372068023TRPS1c.1159C>A (p.Pro387Thr)
c.1120C>A (p.Pro374Thr)
c.1132C>A (p.Pro378Thr)
c.982C>A (p.Pro328Thr)
c.1138C>A (p.Pro380Thr)
8g.115604811T>ACA372068026TRPS1c.1158A>T (p.Lys386Asn)
c.1119A>T (p.Lys373Asn)
c.1131A>T (p.Lys377Asn)
c.981A>T (p.Lys327Asn)
c.1137A>T (p.Lys379Asn)
8g.115604811T>CCA462659565TRPS1c.1158A>G (p.Lys386=)
c.1119A>G (p.Lys373=)
c.1131A>G (p.Lys377=)
c.981A>G (p.Lys327=)
c.1137A>G (p.Lys379=)
8g.115604811T>GCA372068027TRPS1c.1158A>C (p.Lys386Asn)
c.1119A>C (p.Lys373Asn)
c.1131A>C (p.Lys377Asn)
c.981A>C (p.Lys327Asn)
c.1137A>C (p.Lys379Asn)
8g.115604813_115604814delCA2830545574TRPS1c.1157_1158del (p.Lys386ThrfsTer7)
c.1118_1119del (p.Lys373ThrfsTer7)
c.1130_1131del (p.Lys377ThrfsTer7)
c.980_981del (p.Lys327ThrfsTer7)
c.1136_1137del (p.Lys379ThrfsTer7)
8g.115604812T>ACA4851871TRPS1c.1157A>T (p.Lys386Ile)
c.1118A>T (p.Lys373Ile)
c.1130A>T (p.Lys377Ile)
c.980A>T (p.Lys327Ile)
c.1136A>T (p.Lys379Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.115604812T>CCA372068029TRPS1c.1157A>G (p.Lys386Arg)
c.1118A>G (p.Lys373Arg)
c.1130A>G (p.Lys377Arg)
c.980A>G (p.Lys327Arg)
c.1136A>G (p.Lys379Arg)
 gnomAD v4
8g.115604812T>GCA372068028TRPS1c.1157A>C (p.Lys386Thr)
c.1118A>C (p.Lys373Thr)
c.1130A>C (p.Lys377Thr)
c.980A>C (p.Lys327Thr)
c.1136A>C (p.Lys379Thr)
8g.115604812T=CA1812961445TRPS1c.1157A= (p.Lys386=)
c.1118A= (p.Lys373=)
c.1130A= (p.Lys377=)
c.980A= (p.Lys327=)
c.1136A= (p.Lys379=)
8g.115604813T>ACA372068030TRPS1c.1156A>T (p.Lys386Ter)
c.1117A>T (p.Lys373Ter)
c.1129A>T (p.Lys377Ter)
c.979A>T (p.Lys327Ter)
c.1135A>T (p.Lys379Ter)
8g.115604813T>CCA372068031TRPS1c.1156A>G (p.Lys386Glu)
c.1117A>G (p.Lys373Glu)
c.1129A>G (p.Lys377Glu)
c.979A>G (p.Lys327Glu)
c.1135A>G (p.Lys379Glu)
8g.115604813T>GCA372068032TRPS1c.1156A>C (p.Lys386Gln)
c.1117A>C (p.Lys373Gln)
c.1129A>C (p.Lys377Gln)
c.979A>C (p.Lys327Gln)
c.1135A>C (p.Lys379Gln)
8g.115604814T>ACA462659574TRPS1c.1155A>T (p.Ala385=)
c.1116A>T (p.Ala372=)
c.1128A>T (p.Ala376=)
c.978A>T (p.Ala326=)
c.1134A>T (p.Ala378=)
8g.115604814T>CCA184615109TRPS1c.1155A>G (p.Ala385=)
c.1116A>G (p.Ala372=)
c.1128A>G (p.Ala376=)
c.978A>G (p.Ala326=)
c.1134A>G (p.Ala378=)
 dbSNP gnomAD v2 gnomAD v3
8g.115604814T>GCA462659576TRPS1c.1155A>C (p.Ala385=)
c.1116A>C (p.Ala372=)
c.1128A>C (p.Ala376=)
c.978A>C (p.Ala326=)
c.1134A>C (p.Ala378=)
8g.115604814T=CA1812961446TRPS1c.1155A= (p.Ala385=)
c.1116A= (p.Ala372=)
c.1128A= (p.Ala376=)
c.978A= (p.Ala326=)
c.1134A= (p.Ala378=)
8g.115604815G>ACA372068033TRPS1c.1154C>T (p.Ala385Val)
c.1115C>T (p.Ala372Val)
c.1127C>T (p.Ala376Val)
c.977C>T (p.Ala326Val)
c.1133C>T (p.Ala378Val)
 gnomAD v4
8g.115604815G>CCA4851873TRPS1c.1154C>G (p.Ala385Gly)
c.1115C>G (p.Ala372Gly)
c.1127C>G (p.Ala376Gly)
c.977C>G (p.Ala326Gly)
c.1133C>G (p.Ala378Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.115604815G=CA1812961447TRPS1c.1154C= (p.Ala385=)
c.1115C= (p.Ala372=)
c.1127C= (p.Ala376=)
c.977C= (p.Ala326=)
c.1133C= (p.Ala378=)
8g.115604815G>TCA4851872TRPS1c.1154C>A (p.Ala385Glu)
c.1115C>A (p.Ala372Glu)
c.1127C>A (p.Ala376Glu)
c.977C>A (p.Ala326Glu)
c.1133C>A (p.Ala378Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.115604815_115604817delCA2542034873TRPS1c.1152_1154del (p.Ala385del)
c.1113_1115del (p.Ala372del)
c.1125_1127del (p.Ala376del)
c.975_977del (p.Ala326del)
c.1131_1133del (p.Ala378del)
8g.115604816C>ACA4851874TRPS1c.1153G>T (p.Ala385Ser)
c.1114G>T (p.Ala372Ser)
c.1126G>T (p.Ala376Ser)
c.976G>T (p.Ala326Ser)
c.1132G>T (p.Ala378Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.115604816C=CA1812961448TRPS1c.1153G= (p.Ala385=)
c.1114G= (p.Ala372=)
c.1126G= (p.Ala376=)
c.976G= (p.Ala326=)
c.1132G= (p.Ala378=)
8g.115604816C>GCA372068034TRPS1c.1153G>C (p.Ala385Pro)
c.1114G>C (p.Ala372Pro)
c.1126G>C (p.Ala376Pro)
c.976G>C (p.Ala326Pro)
c.1132G>C (p.Ala378Pro)
8g.115604816C>TCA372068035TRPS1c.1153G>A (p.Ala385Thr)
c.1114G>A (p.Ala372Thr)
c.1126G>A (p.Ala376Thr)
c.976G>A (p.Ala326Thr)
c.1132G>A (p.Ala378Thr)
 dbSNP gnomAD v2 gnomAD v4
8g.115604817A>CCA462659585TRPS1c.1152T>G (p.Val384=)
c.1113T>G (p.Val371=)
c.1125T>G (p.Val375=)
c.975T>G (p.Val325=)
c.1131T>G (p.Val377=)
8g.115604817A>GCA462659587TRPS1c.1152T>C (p.Val384=)
c.1113T>C (p.Val371=)
c.1125T>C (p.Val375=)
c.975T>C (p.Val325=)
c.1131T>C (p.Val377=)
8g.115604817A>TCA462659588TRPS1c.1152T>A (p.Val384=)
c.1113T>A (p.Val371=)
c.1125T>A (p.Val375=)
c.975T>A (p.Val325=)
c.1131T>A (p.Val377=)
8g.115604817_115604818dupCA2830545575TRPS1c.1151_1152dup (p.Ala385LeufsTer?)
c.1112_1113dup (p.Ala372LeufsTer?)
c.1124_1125dup (p.Ala376LeufsTer?)
c.974_975dup (p.Ala326LeufsTer?)
c.1130_1131dup (p.Ala378LeufsTer?)
8g.115604818A=CA1812961449TRPS1c.1151T= (p.Val384=)
c.1112T= (p.Val371=)
c.1124T= (p.Val375=)
c.974T= (p.Val325=)
c.1130T= (p.Val377=)
8g.115604818A>CCA372068038TRPS1c.1151T>G (p.Val384Gly)
c.1112T>G (p.Val371Gly)
c.1124T>G (p.Val375Gly)
c.974T>G (p.Val325Gly)
c.1130T>G (p.Val377Gly)
8g.115604818A>GCA372068037TRPS1c.1151T>C (p.Val384Ala)
c.1112T>C (p.Val371Ala)
c.1124T>C (p.Val375Ala)
c.974T>C (p.Val325Ala)
c.1130T>C (p.Val377Ala)
 ClinVar
8g.115604818A>TCA372068036TRPS1c.1151T>A (p.Val384Asp)
c.1112T>A (p.Val371Asp)
c.1124T>A (p.Val375Asp)
c.974T>A (p.Val325Asp)
c.1130T>A (p.Val377Asp)
 dbSNP gnomAD v3 gnomAD v4
8g.115604819C>ACA4851875TRPS1c.1150G>T (p.Val384Phe)
c.1111G>T (p.Val371Phe)
c.1123G>T (p.Val375Phe)
c.973G>T (p.Val325Phe)
c.1129G>T (p.Val377Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.115604819C=CA1812961450TRPS1c.1150G= (p.Val384=)
c.1111G= (p.Val371=)
c.1123G= (p.Val375=)
c.973G= (p.Val325=)
c.1129G= (p.Val377=)
8g.115604819C>GCA372068039TRPS1c.1150G>C (p.Val384Leu)
c.1111G>C (p.Val371Leu)
c.1123G>C (p.Val375Leu)
c.973G>C (p.Val325Leu)
c.1129G>C (p.Val377Leu)
8g.115604819C>TCA372068040TRPS1c.1150G>A (p.Val384Ile)
c.1111G>A (p.Val371Ile)
c.1123G>A (p.Val375Ile)
c.973G>A (p.Val325Ile)
c.1129G>A (p.Val377Ile)
8g.115604820C>ACA372068041TRPS1c.1149G>T (p.Glu383Asp)
c.1110G>T (p.Glu370Asp)
c.1122G>T (p.Glu374Asp)
c.972G>T (p.Glu324Asp)
c.1128G>T (p.Glu376Asp)
8g.115604820C>GCA372068042TRPS1c.1149G>C (p.Glu383Asp)
c.1110G>C (p.Glu370Asp)
c.1122G>C (p.Glu374Asp)
c.972G>C (p.Glu324Asp)
c.1128G>C (p.Glu376Asp)
8g.115604820C>TCA462659594TRPS1c.1149G>A (p.Glu383=)
c.1110G>A (p.Glu370=)
c.1122G>A (p.Glu374=)
c.972G>A (p.Glu324=)
c.1128G>A (p.Glu376=)
 gnomAD v4
8g.115604820_115604821insAGAACA2507992488TRPS1c.1148_1149insTTCT (p.Glu383AspfsTer12)
c.1109_1110insTTCT (p.Glu370AspfsTer12)
c.1121_1122insTTCT (p.Glu374AspfsTer12)
c.971_972insTTCT (p.Glu324AspfsTer12)
c.1127_1128insTTCT (p.Glu376AspfsTer12)
8g.115604821T>ACA372068043TRPS1c.1148A>T (p.Glu383Val)
c.1109A>T (p.Glu370Val)
c.1121A>T (p.Glu374Val)
c.971A>T (p.Glu324Val)
c.1127A>T (p.Glu376Val)
8g.115604821T>CCA372068044TRPS1c.1148A>G (p.Glu383Gly)
c.1109A>G (p.Glu370Gly)
c.1121A>G (p.Glu374Gly)
c.971A>G (p.Glu324Gly)
c.1127A>G (p.Glu376Gly)
8g.115604821T>GCA372068045TRPS1c.1148A>C (p.Glu383Ala)
c.1109A>C (p.Glu370Ala)
c.1121A>C (p.Glu374Ala)
c.971A>C (p.Glu324Ala)
c.1127A>C (p.Glu376Ala)
8g.115604822C>ACA372068046TRPS1c.1147G>T (p.Glu383Ter)
c.1108G>T (p.Glu370Ter)
c.1120G>T (p.Glu374Ter)
c.970G>T (p.Glu324Ter)
c.1126G>T (p.Glu376Ter)
8g.115604822C>GCA372068047TRPS1c.1147G>C (p.Glu383Gln)
c.1108G>C (p.Glu370Gln)
c.1120G>C (p.Glu374Gln)
c.970G>C (p.Glu324Gln)
c.1126G>C (p.Glu376Gln)
8g.115604822C>TCA372068048TRPS1c.1147G>A (p.Glu383Lys)
c.1108G>A (p.Glu370Lys)
c.1120G>A (p.Glu374Lys)
c.970G>A (p.Glu324Lys)
c.1126G>A (p.Glu376Lys)
8g.115604822_115604823insTCTGGATTAAGGCCGCCTGACTGCACTGCTCCGTGCTGCTTGCCATAATGTTCTAGCAGTTTAAGTGCA2688303135TRPS1c.1146_1147insCACTTAAACTGCTAGAACATTATGGCAAGCAGCACGGAGCAGTGCAGTCAGGCGGCCTTAATCCAGA (p.Glu383HisfsTer5)
c.1107_1108insCACTTAAACTGCTAGAACATTATGGCAAGCAGCACGGAGCAGTGCAGTCAGGCGGCCTTAATCCAGA (p.Glu370HisfsTer5)
c.1119_1120insCACTTAAACTGCTAGAACATTATGGCAAGCAGCACGGAGCAGTGCAGTCAGGCGGCCTTAATCCAGA (p.Glu374HisfsTer5)
c.969_970insCACTTAAACTGCTAGAACATTATGGCAAGCAGCACGGAGCAGTGCAGTCAGGCGGCCTTAATCCAGA (p.Glu324HisfsTer5)
c.1125_1126insCACTTAAACTGCTAGAACATTATGGCAAGCAGCACGGAGCAGTGCAGTCAGGCGGCCTTAATCCAGA (p.Glu376HisfsTer5)
 gnomAD v4
8g.115604823A>CCA462659599TRPS1c.1146T>G (p.Ser382=)
c.1107T>G (p.Ser369=)
c.1119T>G (p.Ser373=)
c.969T>G (p.Ser323=)
c.1125T>G (p.Ser375=)
8g.115604823A>GCA462659601TRPS1c.1146T>C (p.Ser382=)
c.1107T>C (p.Ser369=)
c.1119T>C (p.Ser373=)
c.969T>C (p.Ser323=)
c.1125T>C (p.Ser375=)
8g.115604823A>TCA462659600TRPS1c.1146T>A (p.Ser382=)
c.1107T>A (p.Ser369=)
c.1119T>A (p.Ser373=)
c.969T>A (p.Ser323=)
c.1125T>A (p.Ser375=)
8g.115604823_115604826delinsAGAGCA1812961451TRPS1c.1143_1146delinsCTCT (p.Ser381=)
c.1104_1107delinsCTCT (p.Ser368=)
c.1116_1119delinsCTCT (p.Ser372=)
c.966_969delinsCTCT (p.Ser322=)
c.1122_1125delinsCTCT (p.Ser374=)
8g.115604824G>ACA372068050TRPS1c.1145C>T (p.Ser382Phe)
c.1106C>T (p.Ser369Phe)
c.1118C>T (p.Ser373Phe)
c.968C>T (p.Ser323Phe)
c.1124C>T (p.Ser375Phe)
8g.115604824G>CCA372068051TRPS1c.1145C>G (p.Ser382Cys)
c.1106C>G (p.Ser369Cys)
c.1118C>G (p.Ser373Cys)
c.968C>G (p.Ser323Cys)
c.1124C>G (p.Ser375Cys)
8g.115604824G>TCA372068049TRPS1c.1145C>A (p.Ser382Tyr)
c.1106C>A (p.Ser369Tyr)
c.1118C>A (p.Ser373Tyr)
c.968C>A (p.Ser323Tyr)
c.1124C>A (p.Ser375Tyr)
8g.115604828_115604830delCA1118198588TRPS1c.1143_1145del (p.Ser382del)
c.1104_1106del (p.Ser369del)
c.1116_1118del (p.Ser373del)
c.966_968del (p.Ser323del)
c.1122_1124del (p.Ser375del)
 dbSNP gnomAD v3 gnomAD v4
8g.115604825A>CCA372068052TRPS1c.1144T>G (p.Ser382Ala)
c.1105T>G (p.Ser369Ala)
c.1117T>G (p.Ser373Ala)
c.967T>G (p.Ser323Ala)
c.1123T>G (p.Ser375Ala)
8g.115604825A>GCA372068053TRPS1c.1144T>C (p.Ser382Pro)
c.1105T>C (p.Ser369Pro)
c.1117T>C (p.Ser373Pro)
c.967T>C (p.Ser323Pro)
c.1123T>C (p.Ser375Pro)
8g.115604825A>TCA372068054TRPS1c.1144T>A (p.Ser382Thr)
c.1105T>A (p.Ser369Thr)
c.1117T>A (p.Ser373Thr)
c.967T>A (p.Ser323Thr)
c.1123T>A (p.Ser375Thr)
8g.115604826G>ACA4851876TRPS1c.1143C>T (p.Ser381=)
c.1104C>T (p.Ser368=)
c.1116C>T (p.Ser372=)
c.966C>T (p.Ser322=)
c.1122C>T (p.Ser374=)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.115604826G>CCA462659610TRPS1c.1143C>G (p.Ser381=)
c.1104C>G (p.Ser368=)
c.1116C>G (p.Ser372=)
c.966C>G (p.Ser322=)
c.1122C>G (p.Ser374=)
8g.115604826G=CA1812961452TRPS1c.1143C= (p.Ser381=)
c.1104C= (p.Ser368=)
c.1116C= (p.Ser372=)
c.966C= (p.Ser322=)
c.1122C= (p.Ser374=)
8g.115604826G>TCA462659612TRPS1c.1143C>A (p.Ser381=)
c.1104C>A (p.Ser368=)
c.1116C>A (p.Ser372=)
c.966C>A (p.Ser322=)
c.1122C>A (p.Ser374=)
8g.115604827G>ACA372068057TRPS1c.1142C>T (p.Ser381Phe)
c.1103C>T (p.Ser368Phe)
c.1115C>T (p.Ser372Phe)
c.965C>T (p.Ser322Phe)
c.1121C>T (p.Ser374Phe)
8g.115604827G>CCA372068056TRPS1c.1142C>G (p.Ser381Cys)
c.1103C>G (p.Ser368Cys)
c.1115C>G (p.Ser372Cys)
c.965C>G (p.Ser322Cys)
c.1121C>G (p.Ser374Cys)
 gnomAD v4
8g.115604827G>TCA372068055TRPS1c.1142C>A (p.Ser381Tyr)
c.1103C>A (p.Ser368Tyr)
c.1115C>A (p.Ser372Tyr)
c.965C>A (p.Ser322Tyr)
c.1121C>A (p.Ser374Tyr)
8g.115604828A=CA1812961453TRPS1c.1141T= (p.Ser381=)
c.1102T= (p.Ser368=)
c.1114T= (p.Ser372=)
c.964T= (p.Ser322=)
c.1120T= (p.Ser374=)
8g.115604828A>CCA372068058TRPS1c.1141T>G (p.Ser381Ala)
c.1102T>G (p.Ser368Ala)
c.1114T>G (p.Ser372Ala)
c.964T>G (p.Ser322Ala)
c.1120T>G (p.Ser374Ala)
 gnomAD v4
8g.115604828A>GCA4851877TRPS1c.1141T>C (p.Ser381Pro)
c.1102T>C (p.Ser368Pro)
c.1114T>C (p.Ser372Pro)
c.964T>C (p.Ser322Pro)
c.1120T>C (p.Ser374Pro)
 dbSNP ExAC gnomAD v2
8g.115604828A>TCA372068059TRPS1c.1141T>A (p.Ser381Thr)
c.1102T>A (p.Ser368Thr)
c.1114T>A (p.Ser372Thr)
c.964T>A (p.Ser322Thr)
c.1120T>A (p.Ser374Thr)
8g.115604829G>ACA462659618TRPS1c.1140C>T (p.Pro380=)
c.1101C>T (p.Pro367=)
c.1113C>T (p.Pro371=)
c.963C>T (p.Pro321=)
c.1119C>T (p.Pro373=)
 dbSNP gnomAD v2
8g.115604829G>CCA462659619TRPS1c.1140C>G (p.Pro380=)
c.1101C>G (p.Pro367=)
c.1113C>G (p.Pro371=)
c.963C>G (p.Pro321=)
c.1119C>G (p.Pro373=)
 gnomAD v4
8g.115604829G=CA1812961454TRPS1c.1140C= (p.Pro380=)
c.1101C= (p.Pro367=)
c.1113C= (p.Pro371=)
c.963C= (p.Pro321=)
c.1119C= (p.Pro373=)
8g.115604829G>TCA462659620TRPS1c.1140C>A (p.Pro380=)
c.1101C>A (p.Pro367=)
c.1113C>A (p.Pro371=)
c.963C>A (p.Pro321=)
c.1119C>A (p.Pro373=)
8g.115604830G>ACA372068060TRPS1c.1139C>T (p.Pro380Leu)
c.1100C>T (p.Pro367Leu)
c.1112C>T (p.Pro371Leu)
c.962C>T (p.Pro321Leu)
c.1118C>T (p.Pro373Leu)
8g.115604830G>CCA372068061TRPS1c.1139C>G (p.Pro380Arg)
c.1100C>G (p.Pro367Arg)
c.1112C>G (p.Pro371Arg)
c.962C>G (p.Pro321Arg)
c.1118C>G (p.Pro373Arg)
8g.115604830G>TCA372068062TRPS1c.1139C>A (p.Pro380His)
c.1100C>A (p.Pro367His)
c.1112C>A (p.Pro371His)
c.962C>A (p.Pro321His)
c.1118C>A (p.Pro373His)
8g.115604831G>ACA372068063TRPS1c.1138C>T (p.Pro380Ser)
c.1099C>T (p.Pro367Ser)
c.1111C>T (p.Pro371Ser)
c.961C>T (p.Pro321Ser)
c.1117C>T (p.Pro373Ser)
 dbSNP gnomAD v2 gnomAD v4
8g.115604831G>CCA372068065TRPS1c.1138C>G (p.Pro380Ala)
c.1099C>G (p.Pro367Ala)
c.1111C>G (p.Pro371Ala)
c.961C>G (p.Pro321Ala)
c.1117C>G (p.Pro373Ala)
8g.115604831G=CA1812961455TRPS1c.1138C= (p.Pro380=)
c.1099C= (p.Pro367=)
c.1111C= (p.Pro371=)
c.961C= (p.Pro321=)
c.1117C= (p.Pro373=)
8g.115604831G>TCA372068064TRPS1c.1138C>A (p.Pro380Thr)
c.1099C>A (p.Pro367Thr)
c.1111C>A (p.Pro371Thr)
c.961C>A (p.Pro321Thr)
c.1117C>A (p.Pro373Thr)
8g.115604832G>ACA462659624TRPS1c.1137C>T (p.Leu379=)
c.1098C>T (p.Leu366=)
c.1110C>T (p.Leu370=)
c.960C>T (p.Leu320=)
c.1116C>T (p.Leu372=)
 dbSNP gnomAD v2 gnomAD v4
8g.115604832G>CCA462659626TRPS1c.1137C>G (p.Leu379=)
c.1098C>G (p.Leu366=)
c.1110C>G (p.Leu370=)
c.960C>G (p.Leu320=)
c.1116C>G (p.Leu372=)
8g.115604832G=CA1812961456TRPS1c.1137C= (p.Leu379=)
c.1098C= (p.Leu366=)
c.1110C= (p.Leu370=)
c.960C= (p.Leu320=)
c.1116C= (p.Leu372=)
8g.115604832G>TCA184615119TRPS1c.1137C>A (p.Leu379=)
c.1098C>A (p.Leu366=)
c.1110C>A (p.Leu370=)
c.960C>A (p.Leu320=)
c.1116C>A (p.Leu372=)
 dbSNP gnomAD v4
8g.115604833A>CCA372068066TRPS1c.1136T>G (p.Leu379Arg)
c.1097T>G (p.Leu366Arg)
c.1109T>G (p.Leu370Arg)
c.959T>G (p.Leu320Arg)
c.1115T>G (p.Leu372Arg)
8g.115604833A>GCA372068067TRPS1c.1136T>C (p.Leu379Pro)
c.1097T>C (p.Leu366Pro)
c.1109T>C (p.Leu370Pro)
c.959T>C (p.Leu320Pro)
c.1115T>C (p.Leu372Pro)
8g.115604833A>TCA372068068TRPS1c.1136T>A (p.Leu379His)
c.1097T>A (p.Leu366His)
c.1109T>A (p.Leu370His)
c.959T>A (p.Leu320His)
c.1115T>A (p.Leu372His)
8g.115604834G>ACA372068069TRPS1c.1135C>T (p.Leu379Phe)
c.1096C>T (p.Leu366Phe)
c.1108C>T (p.Leu370Phe)
c.958C>T (p.Leu320Phe)
c.1114C>T (p.Leu372Phe)
8g.115604834G>CCA372068070TRPS1c.1135C>G (p.Leu379Val)
c.1096C>G (p.Leu366Val)
c.1108C>G (p.Leu370Val)
c.958C>G (p.Leu320Val)
c.1114C>G (p.Leu372Val)
 gnomAD v4
8g.115604834G>TCA372068071TRPS1c.1135C>A (p.Leu379Ile)
c.1096C>A (p.Leu366Ile)
c.1108C>A (p.Leu370Ile)
c.958C>A (p.Leu320Ile)
c.1114C>A (p.Leu372Ile)
8g.115604835A>CCA462659634TRPS1c.1134T>G (p.Ser378=)
c.1095T>G (p.Ser365=)
c.1107T>G (p.Ser369=)
c.957T>G (p.Ser319=)
c.1113T>G (p.Ser371=)
8g.115604835A>GCA462659638TRPS1c.1134T>C (p.Ser378=)
c.1095T>C (p.Ser365=)
c.1107T>C (p.Ser369=)
c.957T>C (p.Ser319=)
c.1113T>C (p.Ser371=)
8g.115604835A>TCA462659641TRPS1c.1134T>A (p.Ser378=)
c.1095T>A (p.Ser365=)
c.1107T>A (p.Ser369=)
c.957T>A (p.Ser319=)
c.1113T>A (p.Ser371=)
8g.115604836G>ACA372068072TRPS1c.1133C>T (p.Ser378Phe)
c.1094C>T (p.Ser365Phe)
c.1106C>T (p.Ser369Phe)
c.956C>T (p.Ser319Phe)
c.1112C>T (p.Ser371Phe)
 gnomAD v4 COSMIC COSMIC
8g.115604836G>CCA372068073TRPS1c.1133C>G (p.Ser378Cys)
c.1094C>G (p.Ser365Cys)
c.1106C>G (p.Ser369Cys)
c.956C>G (p.Ser319Cys)
c.1112C>G (p.Ser371Cys)
8g.115604836G>TCA372068074TRPS1c.1133C>A (p.Ser378Tyr)
c.1094C>A (p.Ser365Tyr)
c.1106C>A (p.Ser369Tyr)
c.956C>A (p.Ser319Tyr)
c.1112C>A (p.Ser371Tyr)
 COSMIC COSMIC
8g.115604837A=CA1812961457TRPS1c.1132T= (p.Ser378=)
c.1093T= (p.Ser365=)
c.1105T= (p.Ser369=)
c.955T= (p.Ser319=)
c.1111T= (p.Ser371=)
8g.115604837A>CCA372068075TRPS1c.1132T>G (p.Ser378Ala)
c.1093T>G (p.Ser365Ala)
c.1105T>G (p.Ser369Ala)
c.955T>G (p.Ser319Ala)
c.1111T>G (p.Ser371Ala)
8g.115604837A>GCA184615121TRPS1c.1132T>C (p.Ser378Pro)
c.1093T>C (p.Ser365Pro)
c.1105T>C (p.Ser369Pro)
c.955T>C (p.Ser319Pro)
c.1111T>C (p.Ser371Pro)
 dbSNP gnomAD v2 gnomAD v4
8g.115604837A>TCA372068076TRPS1c.1132T>A (p.Ser378Thr)
c.1093T>A (p.Ser365Thr)
c.1105T>A (p.Ser369Thr)
c.955T>A (p.Ser319Thr)
c.1111T>A (p.Ser371Thr)
8g.115604838A>CCA462659646TRPS1c.1131T>G (p.Ala377=)
c.1092T>G (p.Ala364=)
c.1104T>G (p.Ala368=)
c.954T>G (p.Ala318=)
c.1110T>G (p.Ala370=)
8g.115604838A>GCA462659647TRPS1c.1131T>C (p.Ala377=)
c.1092T>C (p.Ala364=)
c.1104T>C (p.Ala368=)
c.954T>C (p.Ala318=)
c.1110T>C (p.Ala370=)
8g.115604838A>TCA462659650TRPS1c.1131T>A (p.Ala377=)
c.1092T>A (p.Ala364=)
c.1104T>A (p.Ala368=)
c.954T>A (p.Ala318=)
c.1110T>A (p.Ala370=)
8g.115604839G>ACA4851878TRPS1c.1130C>T (p.Ala377Val)
c.1091C>T (p.Ala364Val)
c.1103C>T (p.Ala368Val)
c.953C>T (p.Ala318Val)
c.1109C>T (p.Ala370Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.115604839G>CCA4851879TRPS1c.1130C>G (p.Ala377Gly)
c.1091C>G (p.Ala364Gly)
c.1103C>G (p.Ala368Gly)
c.953C>G (p.Ala318Gly)
c.1109C>G (p.Ala370Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.115604839G=CA1812961458TRPS1c.1130C= (p.Ala377=)
c.1091C= (p.Ala364=)
c.1103C= (p.Ala368=)
c.953C= (p.Ala318=)
c.1109C= (p.Ala370=)
8g.115604839G>TCA372068077TRPS1c.1130C>A (p.Ala377Asp)
c.1091C>A (p.Ala364Asp)
c.1103C>A (p.Ala368Asp)
c.953C>A (p.Ala318Asp)
c.1109C>A (p.Ala370Asp)

Number of alleles fetched