Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.115604640G>ACA462659727TRPS1c.1329C>T (p.Ala443=)
c.1290C>T (p.Ala430=)
c.1291+11C>T (n.1291+11C>T)
c.1141+11C>T (n.1141+11C>T)
c.1302C>T (p.Ala434=)
c.1308C>T (p.Ala436=)
8g.115604640G>CCA462659729TRPS1c.1329C>G (p.Ala443=)
c.1290C>G (p.Ala430=)
c.1291+11C>G (n.1291+11C>G)
c.1141+11C>G (n.1141+11C>G)
c.1302C>G (p.Ala434=)
c.1308C>G (p.Ala436=)
8g.115604640G>TCA462659730TRPS1c.1329C>A (p.Ala443=)
c.1290C>A (p.Ala430=)
c.1291+11C>A (n.1291+11C>A)
c.1141+11C>A (n.1141+11C>A)
c.1302C>A (p.Ala434=)
c.1308C>A (p.Ala436=)
8g.115604641G>ACA372067653TRPS1c.1328C>T (p.Ala443Val)
c.1289C>T (p.Ala430Val)
c.1291+10C>T (n.1291+10C>T)
c.1141+10C>T (n.1141+10C>T)
c.1301C>T (p.Ala434Val)
c.1307C>T (p.Ala436Val)
8g.115604641G>CCA372067654TRPS1c.1328C>G (p.Ala443Gly)
c.1289C>G (p.Ala430Gly)
c.1291+10C>G (n.1291+10C>G)
c.1141+10C>G (n.1141+10C>G)
c.1301C>G (p.Ala434Gly)
c.1307C>G (p.Ala436Gly)
8g.115604641G>TCA372067655TRPS1c.1328C>A (p.Ala443Asp)
c.1289C>A (p.Ala430Asp)
c.1291+10C>A (n.1291+10C>A)
c.1141+10C>A (n.1141+10C>A)
c.1301C>A (p.Ala434Asp)
c.1307C>A (p.Ala436Asp)
8g.115604642C>ACA372067656TRPS1c.1327G>T (p.Ala443Ser)
c.1288G>T (p.Ala430Ser)
c.1291+9G>T (n.1291+9G>T)
c.1141+9G>T (n.1141+9G>T)
c.1300G>T (p.Ala434Ser)
c.1306G>T (p.Ala436Ser)
8g.115604642C>GCA372067657TRPS1c.1327G>C (p.Ala443Pro)
c.1288G>C (p.Ala430Pro)
c.1291+9G>C (n.1291+9G>C)
c.1141+9G>C (n.1141+9G>C)
c.1300G>C (p.Ala434Pro)
c.1306G>C (p.Ala436Pro)
8g.115604642C>TCA372067658TRPS1c.1327G>A (p.Ala443Thr)
c.1288G>A (p.Ala430Thr)
c.1291+9G>A (n.1291+9G>A)
c.1141+9G>A (n.1141+9G>A)
c.1300G>A (p.Ala434Thr)
c.1306G>A (p.Ala436Thr)
8g.115604643C>ACA372067659TRPS1c.1326G>T (p.Glu442Asp)
c.1287G>T (p.Glu429Asp)
c.1291+8G>T (n.1291+8G>T)
c.1141+8G>T (n.1141+8G>T)
c.1299G>T (p.Glu433Asp)
c.1305G>T (p.Glu435Asp)
8g.115604643C>GCA372067660TRPS1c.1326G>C (p.Glu442Asp)
c.1287G>C (p.Glu429Asp)
c.1291+8G>C (n.1291+8G>C)
c.1141+8G>C (n.1141+8G>C)
c.1299G>C (p.Glu433Asp)
c.1305G>C (p.Glu435Asp)
 gnomAD v4
8g.115604643C>TCA462659737TRPS1c.1326G>A (p.Glu442=)
c.1287G>A (p.Glu429=)
c.1291+8G>A (n.1291+8G>A)
c.1141+8G>A (n.1141+8G>A)
c.1299G>A (p.Glu433=)
c.1305G>A (p.Glu435=)
 gnomAD v4
8g.115604644T>ACA372067663TRPS1c.1325A>T (p.Glu442Val)
c.1286A>T (p.Glu429Val)
c.1291+7A>T (n.1291+7A>T)
c.1141+7A>T (n.1141+7A>T)
c.1298A>T (p.Glu433Val)
c.1304A>T (p.Glu435Val)
8g.115604644T>CCA372067662TRPS1c.1325A>G (p.Glu442Gly)
c.1286A>G (p.Glu429Gly)
c.1291+7A>G (n.1291+7A>G)
c.1141+7A>G (n.1141+7A>G)
c.1298A>G (p.Glu433Gly)
c.1304A>G (p.Glu435Gly)
8g.115604644T>GCA372067661TRPS1c.1325A>C (p.Glu442Ala)
c.1286A>C (p.Glu429Ala)
c.1291+7A>C (n.1291+7A>C)
c.1141+7A>C (n.1141+7A>C)
c.1298A>C (p.Glu433Ala)
c.1304A>C (p.Glu435Ala)
8g.115604645C>ACA372067664TRPS1c.1324G>T (p.Glu442Ter)
c.1285G>T (p.Glu429Ter)
c.1291+6G>T (n.1291+6G>T)
c.1141+6G>T (n.1141+6G>T)
c.1297G>T (p.Glu433Ter)
c.1303G>T (p.Glu435Ter)
8g.115604645C>GCA372067665TRPS1c.1324G>C (p.Glu442Gln)
c.1285G>C (p.Glu429Gln)
c.1291+6G>C (n.1291+6G>C)
c.1141+6G>C (n.1141+6G>C)
c.1297G>C (p.Glu433Gln)
c.1303G>C (p.Glu435Gln)
8g.115604645C>TCA372067666TRPS1c.1324G>A (p.Glu442Lys)
c.1285G>A (p.Glu429Lys)
c.1291+6G>A (n.1291+6G>A)
c.1141+6G>A (n.1141+6G>A)
c.1297G>A (p.Glu433Lys)
c.1303G>A (p.Glu435Lys)
8g.115604646T>ACA462659741TRPS1c.1323A>T (p.Thr441=)
c.1284A>T (p.Thr428=)
c.1291+5A>T (n.1291+5A>T)
c.1141+5A>T (n.1141+5A>T)
c.1296A>T (p.Thr432=)
c.1302A>T (p.Thr434=)
8g.115604646T>CCA462659742TRPS1c.1323A>G (p.Thr441=)
c.1284A>G (p.Thr428=)
c.1291+5A>G (n.1291+5A>G)
c.1141+5A>G (n.1141+5A>G)
c.1296A>G (p.Thr432=)
c.1302A>G (p.Thr434=)
 dbSNP
8g.115604646T>GCA462659743TRPS1c.1323A>C (p.Thr441=)
c.1284A>C (p.Thr428=)
c.1291+5A>C (n.1291+5A>C)
c.1141+5A>C (n.1141+5A>C)
c.1296A>C (p.Thr432=)
c.1302A>C (p.Thr434=)
8g.115604646T=CA1812961369TRPS1c.1323A= (p.Thr441=)
c.1284A= (p.Thr428=)
c.1291+5A= (n.1291+5A=)
c.1141+5A= (n.1141+5A=)
c.1296A= (p.Thr432=)
c.1302A= (p.Thr434=)
8g.115604647G>ACA372067667TRPS1c.1322C>T (p.Thr441Ile)
c.1283C>T (p.Thr428Ile)
c.1291+4C>T (n.1291+4C>T)
c.1141+4C>T (n.1141+4C>T)
c.1295C>T (p.Thr432Ile)
c.1301C>T (p.Thr434Ile)
 gnomAD v4
8g.115604647G>CCA372067668TRPS1c.1322C>G (p.Thr441Arg)
c.1283C>G (p.Thr428Arg)
c.1291+4C>G (n.1291+4C>G)
c.1141+4C>G (n.1141+4C>G)
c.1295C>G (p.Thr432Arg)
c.1301C>G (p.Thr434Arg)
8g.115604647G>TCA372067669TRPS1c.1322C>A (p.Thr441Lys)
c.1283C>A (p.Thr428Lys)
c.1291+4C>A (n.1291+4C>A)
c.1141+4C>A (n.1141+4C>A)
c.1295C>A (p.Thr432Lys)
c.1301C>A (p.Thr434Lys)
 COSMIC COSMIC
8g.115604648T>ACA372067670TRPS1c.1321A>T (p.Thr441Ser)
c.1282A>T (p.Thr428Ser)
c.1291+3A>T (n.1291+3A>T)
c.1141+3A>T (n.1141+3A>T)
c.1294A>T (p.Thr432Ser)
c.1300A>T (p.Thr434Ser)
 dbSNP
8g.115604648T>CCA372067671TRPS1c.1321A>G (p.Thr441Ala)
c.1282A>G (p.Thr428Ala)
c.1291+3A>G (n.1291+3A>G)
c.1141+3A>G (n.1141+3A>G)
c.1294A>G (p.Thr432Ala)
c.1300A>G (p.Thr434Ala)
8g.115604648T>GCA372067672TRPS1c.1321A>C (p.Thr441Pro)
c.1282A>C (p.Thr428Pro)
c.1291+3A>C (n.1291+3A>C)
c.1141+3A>C (n.1141+3A>C)
c.1294A>C (p.Thr432Pro)
c.1300A>C (p.Thr434Pro)
8g.115604648T=CA1812961370TRPS1c.1321A= (p.Thr441=)
c.1282A= (p.Thr428=)
c.1291+3A= (n.1291+3A=)
c.1141+3A= (n.1141+3A=)
c.1294A= (p.Thr432=)
c.1300A= (p.Thr434=)
8g.115604649A=CA1812961371TRPS1c.1320T= (p.Gly440=)
c.1281T= (p.Gly427=)
c.1291+2T= (n.1291+2T=)
c.1141+2T= (n.1141+2T=)
c.1293T= (p.Gly431=)
c.1299T= (p.Gly433=)
8g.115604649A>CCA372067673TRPS1c.1320T>G (p.Gly440=)
c.1281T>G (p.Gly427=)
c.1291+2T>G (n.1291+2T>G)
c.1141+2T>G (n.1141+2T>G)
c.1293T>G (p.Gly431=)
c.1299T>G (p.Gly433=)
8g.115604649A>GCA184615055TRPS1c.1320T>C (p.Gly440=)
c.1281T>C (p.Gly427=)
c.1291+2T>C (n.1291+2T>C)
c.1141+2T>C (n.1141+2T>C)
c.1293T>C (p.Gly431=)
c.1299T>C (p.Gly433=)
 dbSNP gnomAD v3 gnomAD v4
8g.115604649A>TCA372067674TRPS1c.1320T>A (p.Gly440=)
c.1281T>A (p.Gly427=)
c.1291+2T>A (n.1291+2T>A)
c.1141+2T>A (n.1141+2T>A)
c.1293T>A (p.Gly431=)
c.1299T>A (p.Gly433=)
8g.115604650C>ACA372067676TRPS1c.1319G>T (p.Gly440Val)
c.1280G>T (p.Gly427Val)
c.1291+1G>T (n.1291+1G>T)
c.1141+1G>T (n.1141+1G>T)
c.1292G>T (p.Gly431Val)
c.1298G>T (p.Gly433Val)
 dbSNP gnomAD v3 gnomAD v4
8g.115604650C=CA1812961372TRPS1c.1319G= (p.Gly440=)
c.1280G= (p.Gly427=)
c.1291+1G= (n.1291+1G=)
c.1141+1G= (n.1141+1G=)
c.1292G= (p.Gly431=)
c.1298G= (p.Gly433=)
8g.115604650C>GCA372067675TRPS1c.1319G>C (p.Gly440Ala)
c.1280G>C (p.Gly427Ala)
c.1291+1G>C (n.1291+1G>C)
c.1141+1G>C (n.1141+1G>C)
c.1292G>C (p.Gly431Ala)
c.1298G>C (p.Gly433Ala)
8g.115604650C>TCA4851843TRPS1c.1319G>A (p.Gly440Asp)
c.1280G>A (p.Gly427Asp)
c.1291+1G>A (n.1291+1G>A)
c.1141+1G>A (n.1141+1G>A)
c.1292G>A (p.Gly431Asp)
c.1298G>A (p.Gly433Asp)
 dbSNP ExAC gnomAD v4
8g.115604651C>ACA372067677TRPS1c.1318G>T (p.Gly440Cys)
c.1279G>T (p.Gly427Cys)
c.1291G>T (p.Asp431Tyr)
c.1141G>T (p.Asp381Tyr)
c.1291G>T (p.Gly431Cys)
c.1297G>T (p.Gly433Cys)
8g.115604651C=CA1812961373TRPS1c.1318G= (p.Gly440=)
c.1279G= (p.Gly427=)
c.1291G= (p.Asp431=)
c.1141G= (p.Asp381=)
c.1291G= (p.Gly431=)
c.1297G= (p.Gly433=)
8g.115604651C>GCA372067678TRPS1c.1318G>C (p.Gly440Arg)
c.1279G>C (p.Gly427Arg)
c.1291G>C (p.Asp431His)
c.1141G>C (p.Asp381His)
c.1291G>C (p.Gly431Arg)
c.1297G>C (p.Gly433Arg)
8g.115604651C>TCA184615059TRPS1c.1318G>A (p.Gly440Ser)
c.1279G>A (p.Gly427Ser)
c.1291G>A (p.Asp431Asn)
c.1141G>A (p.Asp381Asn)
c.1291G>A (p.Gly431Ser)
c.1297G>A (p.Gly433Ser)
 dbSNP
8g.115604652A>CCA372067679TRPS1c.1317T>G (p.Asn439Lys)
c.1278T>G (p.Asn426Lys)
c.1290T>G (p.Asn430Lys)
c.1140T>G (p.Asn380Lys)
c.1296T>G (p.Asn432Lys)
8g.115604652A>GCA462659762TRPS1c.1317T>C (p.Asn439=)
c.1278T>C (p.Asn426=)
c.1290T>C (p.Asn430=)
c.1140T>C (p.Asn380=)
c.1296T>C (p.Asn432=)
8g.115604652A>TCA372067680TRPS1c.1317T>A (p.Asn439Lys)
c.1278T>A (p.Asn426Lys)
c.1290T>A (p.Asn430Lys)
c.1140T>A (p.Asn380Lys)
c.1296T>A (p.Asn432Lys)
8g.115604653T>ACA372067681TRPS1c.1316A>T (p.Asn439Ile)
c.1277A>T (p.Asn426Ile)
c.1289A>T (p.Asn430Ile)
c.1139A>T (p.Asn380Ile)
c.1295A>T (p.Asn432Ile)
8g.115604653T>CCA4851844TRPS1c.1316A>G (p.Asn439Ser)
c.1277A>G (p.Asn426Ser)
c.1289A>G (p.Asn430Ser)
c.1139A>G (p.Asn380Ser)
c.1295A>G (p.Asn432Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
8g.115604653T>GCA372067682TRPS1c.1316A>C (p.Asn439Thr)
c.1277A>C (p.Asn426Thr)
c.1289A>C (p.Asn430Thr)
c.1139A>C (p.Asn380Thr)
c.1295A>C (p.Asn432Thr)
8g.115604653T=CA1812961374TRPS1c.1316A= (p.Asn439=)
c.1277A= (p.Asn426=)
c.1289A= (p.Asn430=)
c.1139A= (p.Asn380=)
c.1295A= (p.Asn432=)
8g.115604654T>ACA372067683TRPS1c.1315A>T (p.Asn439Tyr)
c.1276A>T (p.Asn426Tyr)
c.1288A>T (p.Asn430Tyr)
c.1138A>T (p.Asn380Tyr)
c.1294A>T (p.Asn432Tyr)
8g.115604654T>CCA372067684TRPS1c.1315A>G (p.Asn439Asp)
c.1276A>G (p.Asn426Asp)
c.1288A>G (p.Asn430Asp)
c.1138A>G (p.Asn380Asp)
c.1294A>G (p.Asn432Asp)
8g.115604654T>GCA372067685TRPS1c.1315A>C (p.Asn439His)
c.1276A>C (p.Asn426His)
c.1288A>C (p.Asn430His)
c.1138A>C (p.Asn380His)
c.1294A>C (p.Asn432His)
8g.115604655T>ACA372067686TRPS1c.1314A>T (p.Gln438His)
c.1275A>T (p.Gln425His)
c.1287A>T (p.Gln429His)
c.1137A>T (p.Gln379His)
c.1293A>T (p.Gln431His)
8g.115604655T>CCA462659768TRPS1c.1314A>G (p.Gln438=)
c.1275A>G (p.Gln425=)
c.1287A>G (p.Gln429=)
c.1137A>G (p.Gln379=)
c.1293A>G (p.Gln431=)
 gnomAD v4
8g.115604655T>GCA372067687TRPS1c.1314A>C (p.Gln438His)
c.1275A>C (p.Gln425His)
c.1287A>C (p.Gln429His)
c.1137A>C (p.Gln379His)
c.1293A>C (p.Gln431His)
8g.115604656T>ACA372067688TRPS1c.1313A>T (p.Gln438Leu)
c.1274A>T (p.Gln425Leu)
c.1286A>T (p.Gln429Leu)
c.1136A>T (p.Gln379Leu)
c.1292A>T (p.Gln431Leu)
8g.115604656T>CCA372067689TRPS1c.1313A>G (p.Gln438Arg)
c.1274A>G (p.Gln425Arg)
c.1286A>G (p.Gln429Arg)
c.1136A>G (p.Gln379Arg)
c.1292A>G (p.Gln431Arg)
8g.115604656T>GCA372067690TRPS1c.1313A>C (p.Gln438Pro)
c.1274A>C (p.Gln425Pro)
c.1286A>C (p.Gln429Pro)
c.1136A>C (p.Gln379Pro)
c.1292A>C (p.Gln431Pro)
8g.115604657G>ACA372067691TRPS1c.1312C>T (p.Gln438Ter)
c.1273C>T (p.Gln425Ter)
c.1285C>T (p.Gln429Ter)
c.1135C>T (p.Gln379Ter)
c.1291C>T (p.Gln431Ter)
8g.115604657G>CCA372067692TRPS1c.1312C>G (p.Gln438Glu)
c.1273C>G (p.Gln425Glu)
c.1285C>G (p.Gln429Glu)
c.1135C>G (p.Gln379Glu)
c.1291C>G (p.Gln431Glu)
8g.115604657G=CA1812961375TRPS1c.1312C= (p.Gln438=)
c.1273C= (p.Gln425=)
c.1285C= (p.Gln429=)
c.1135C= (p.Gln379=)
c.1291C= (p.Gln431=)
8g.115604657G>TCA372067693TRPS1c.1312C>A (p.Gln438Lys)
c.1273C>A (p.Gln425Lys)
c.1285C>A (p.Gln429Lys)
c.1135C>A (p.Gln379Lys)
c.1291C>A (p.Gln431Lys)
 dbSNP gnomAD v4
8g.115604658T>ACA372067694TRPS1c.1311A>T (p.Arg437Ser)
c.1272A>T (p.Arg424Ser)
c.1284A>T (p.Arg428Ser)
c.1134A>T (p.Arg378Ser)
c.1290A>T (p.Arg430Ser)
8g.115604658T>CCA462659777TRPS1c.1311A>G (p.Arg437=)
c.1272A>G (p.Arg424=)
c.1284A>G (p.Arg428=)
c.1134A>G (p.Arg378=)
c.1290A>G (p.Arg430=)
8g.115604658T>GCA372067695TRPS1c.1311A>C (p.Arg437Ser)
c.1272A>C (p.Arg424Ser)
c.1284A>C (p.Arg428Ser)
c.1134A>C (p.Arg378Ser)
c.1290A>C (p.Arg430Ser)
8g.115604659C>ACA372067697TRPS1c.1310G>T (p.Arg437Ile)
c.1271G>T (p.Arg424Ile)
c.1283G>T (p.Arg428Ile)
c.1133G>T (p.Arg378Ile)
c.1289G>T (p.Arg430Ile)
8g.115604659C=CA1812961376TRPS1c.1310G= (p.Arg437=)
c.1271G= (p.Arg424=)
c.1283G= (p.Arg428=)
c.1133G= (p.Arg378=)
c.1289G= (p.Arg430=)
8g.115604659C>GCA372067696TRPS1c.1310G>C (p.Arg437Thr)
c.1271G>C (p.Arg424Thr)
c.1283G>C (p.Arg428Thr)
c.1133G>C (p.Arg378Thr)
c.1289G>C (p.Arg430Thr)
8g.115604659C>TCA184615064TRPS1c.1310G>A (p.Arg437Lys)
c.1271G>A (p.Arg424Lys)
c.1283G>A (p.Arg428Lys)
c.1133G>A (p.Arg378Lys)
c.1289G>A (p.Arg430Lys)
 dbSNP
8g.115604660T>ACA372067698TRPS1c.1309A>T (p.Arg437Ter)
c.1270A>T (p.Arg424Ter)
c.1282A>T (p.Arg428Ter)
c.1132A>T (p.Arg378Ter)
c.1288A>T (p.Arg430Ter)
8g.115604660T>CCA184615066TRPS1c.1309A>G (p.Arg437Gly)
c.1270A>G (p.Arg424Gly)
c.1282A>G (p.Arg428Gly)
c.1132A>G (p.Arg378Gly)
c.1288A>G (p.Arg430Gly)
 dbSNP gnomAD v3 gnomAD v4
8g.115604660T>GCA462659781TRPS1c.1309A>C (p.Arg437=)
c.1270A>C (p.Arg424=)
c.1282A>C (p.Arg428=)
c.1132A>C (p.Arg378=)
c.1288A>C (p.Arg430=)
8g.115604660T=CA1812961378TRPS1c.1309A= (p.Arg437=)
c.1270A= (p.Arg424=)
c.1282A= (p.Arg428=)
c.1132A= (p.Arg378=)
c.1288A= (p.Arg430=)
8g.115604660_115604663delinsTAGACA1812961377TRPS1c.1306_1309delinsTCTA (p.Ser436=)
c.1267_1270delinsTCTA (p.Ser423=)
c.1279_1282delinsTCTA (p.Ser427=)
c.1129_1132delinsTCTA (p.Ser377=)
c.1285_1288delinsTCTA (p.Ser429=)
8g.115604661A>CCA462659783TRPS1c.1308T>G (p.Ser436=)
c.1269T>G (p.Ser423=)
c.1281T>G (p.Ser427=)
c.1131T>G (p.Ser377=)
c.1287T>G (p.Ser429=)
8g.115604661A>GCA462659785TRPS1c.1308T>C (p.Ser436=)
c.1269T>C (p.Ser423=)
c.1281T>C (p.Ser427=)
c.1131T>C (p.Ser377=)
c.1287T>C (p.Ser429=)
8g.115604661A>TCA462659787TRPS1c.1308T>A (p.Ser436=)
c.1269T>A (p.Ser423=)
c.1281T>A (p.Ser427=)
c.1131T>A (p.Ser377=)
c.1287T>A (p.Ser429=)
8g.115604661_115604663delCA1812961379TRPS1c.1306_1308del (p.Ser436del)
c.1267_1269del (p.Ser423del)
c.1279_1281del (p.Ser427del)
c.1129_1131del (p.Ser377del)
c.1285_1287del (p.Ser429del)
 dbSNP
8g.115604662G>ACA372067699TRPS1c.1307C>T (p.Ser436Phe)
c.1268C>T (p.Ser423Phe)
c.1280C>T (p.Ser427Phe)
c.1130C>T (p.Ser377Phe)
c.1286C>T (p.Ser429Phe)
 gnomAD v4
8g.115604662G>CCA372067700TRPS1c.1307C>G (p.Ser436Cys)
c.1268C>G (p.Ser423Cys)
c.1280C>G (p.Ser427Cys)
c.1130C>G (p.Ser377Cys)
c.1286C>G (p.Ser429Cys)
 COSMIC COSMIC
8g.115604662G>TCA372067701TRPS1c.1307C>A (p.Ser436Tyr)
c.1268C>A (p.Ser423Tyr)
c.1280C>A (p.Ser427Tyr)
c.1130C>A (p.Ser377Tyr)
c.1286C>A (p.Ser429Tyr)
8g.115604663A>CCA372067702TRPS1c.1306T>G (p.Ser436Ala)
c.1267T>G (p.Ser423Ala)
c.1279T>G (p.Ser427Ala)
c.1129T>G (p.Ser377Ala)
c.1285T>G (p.Ser429Ala)
8g.115604663A>GCA372067703TRPS1c.1306T>C (p.Ser436Pro)
c.1267T>C (p.Ser423Pro)
c.1279T>C (p.Ser427Pro)
c.1129T>C (p.Ser377Pro)
c.1285T>C (p.Ser429Pro)
8g.115604663A>TCA372067704TRPS1c.1306T>A (p.Ser436Thr)
c.1267T>A (p.Ser423Thr)
c.1279T>A (p.Ser427Thr)
c.1129T>A (p.Ser377Thr)
c.1285T>A (p.Ser429Thr)
8g.115604664G>ACA462659791TRPS1c.1305C>T (p.Ser435=)
c.1266C>T (p.Ser422=)
c.1278C>T (p.Ser426=)
c.1128C>T (p.Ser376=)
c.1284C>T (p.Ser428=)
8g.115604664G>CCA462659794TRPS1c.1305C>G (p.Ser435=)
c.1266C>G (p.Ser422=)
c.1278C>G (p.Ser426=)
c.1128C>G (p.Ser376=)
c.1284C>G (p.Ser428=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.115604664G=CA1812961380TRPS1c.1305C= (p.Ser435=)
c.1266C= (p.Ser422=)
c.1278C= (p.Ser426=)
c.1128C= (p.Ser376=)
c.1284C= (p.Ser428=)
8g.115604664G>TCA462659792TRPS1c.1305C>A (p.Ser435=)
c.1266C>A (p.Ser422=)
c.1278C>A (p.Ser426=)
c.1128C>A (p.Ser376=)
c.1284C>A (p.Ser428=)
8g.115604665G>ACA372067705TRPS1c.1304C>T (p.Ser435Phe)
c.1265C>T (p.Ser422Phe)
c.1277C>T (p.Ser426Phe)
c.1127C>T (p.Ser376Phe)
c.1283C>T (p.Ser428Phe)
8g.115604665G>CCA372067706TRPS1c.1304C>G (p.Ser435Cys)
c.1265C>G (p.Ser422Cys)
c.1277C>G (p.Ser426Cys)
c.1127C>G (p.Ser376Cys)
c.1283C>G (p.Ser428Cys)
8g.115604665G>TCA372067707TRPS1c.1304C>A (p.Ser435Tyr)
c.1265C>A (p.Ser422Tyr)
c.1277C>A (p.Ser426Tyr)
c.1127C>A (p.Ser376Tyr)
c.1283C>A (p.Ser428Tyr)
8g.115604666A>CCA372067708TRPS1c.1303T>G (p.Ser435Ala)
c.1264T>G (p.Ser422Ala)
c.1276T>G (p.Ser426Ala)
c.1126T>G (p.Ser376Ala)
c.1282T>G (p.Ser428Ala)
8g.115604666A>GCA372067710TRPS1c.1303T>C (p.Ser435Pro)
c.1264T>C (p.Ser422Pro)
c.1276T>C (p.Ser426Pro)
c.1126T>C (p.Ser376Pro)
c.1282T>C (p.Ser428Pro)
8g.115604666A>TCA372067709TRPS1c.1303T>A (p.Ser435Thr)
c.1264T>A (p.Ser422Thr)
c.1276T>A (p.Ser426Thr)
c.1126T>A (p.Ser376Thr)
c.1282T>A (p.Ser428Thr)
8g.115604667A=CA1812961381TRPS1c.1302T= (p.Asp434=)
c.1263T= (p.Asp421=)
c.1275T= (p.Asp425=)
c.1125T= (p.Asp375=)
c.1281T= (p.Asp427=)
8g.115604667A>CCA4851845TRPS1c.1302T>G (p.Asp434Glu)
c.1263T>G (p.Asp421Glu)
c.1275T>G (p.Asp425Glu)
c.1125T>G (p.Asp375Glu)
c.1281T>G (p.Asp427Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.115604667A>GCA462659798TRPS1c.1302T>C (p.Asp434=)
c.1263T>C (p.Asp421=)
c.1275T>C (p.Asp425=)
c.1125T>C (p.Asp375=)
c.1281T>C (p.Asp427=)
8g.115604667A>TCA372067711TRPS1c.1302T>A (p.Asp434Glu)
c.1263T>A (p.Asp421Glu)
c.1275T>A (p.Asp425Glu)
c.1125T>A (p.Asp375Glu)
c.1281T>A (p.Asp427Glu)
8g.115604668T>ACA372067712TRPS1c.1301A>T (p.Asp434Val)
c.1262A>T (p.Asp421Val)
c.1274A>T (p.Asp425Val)
c.1124A>T (p.Asp375Val)
c.1280A>T (p.Asp427Val)
8g.115604668T>CCA372067713TRPS1c.1301A>G (p.Asp434Gly)
c.1262A>G (p.Asp421Gly)
c.1274A>G (p.Asp425Gly)
c.1124A>G (p.Asp375Gly)
c.1280A>G (p.Asp427Gly)
8g.115604668T>GCA372067714TRPS1c.1301A>C (p.Asp434Ala)
c.1262A>C (p.Asp421Ala)
c.1274A>C (p.Asp425Ala)
c.1124A>C (p.Asp375Ala)
c.1280A>C (p.Asp427Ala)
8g.115604669C>ACA372067715TRPS1c.1300G>T (p.Asp434Tyr)
c.1261G>T (p.Asp421Tyr)
c.1273G>T (p.Asp425Tyr)
c.1123G>T (p.Asp375Tyr)
c.1279G>T (p.Asp427Tyr)
 dbSNP gnomAD v2 gnomAD v4
8g.115604669C=CA1812961382TRPS1c.1300G= (p.Asp434=)
c.1261G= (p.Asp421=)
c.1273G= (p.Asp425=)
c.1123G= (p.Asp375=)
c.1279G= (p.Asp427=)
8g.115604669C>GCA372067716TRPS1c.1300G>C (p.Asp434His)
c.1261G>C (p.Asp421His)
c.1273G>C (p.Asp425His)
c.1123G>C (p.Asp375His)
c.1279G>C (p.Asp427His)
8g.115604669C>TCA4851846TRPS1c.1300G>A (p.Asp434Asn)
c.1261G>A (p.Asp421Asn)
c.1273G>A (p.Asp425Asn)
c.1123G>A (p.Asp375Asn)
c.1279G>A (p.Asp427Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.115604670G>ACA4851848TRPS1c.1299C>T (p.Leu433=)
c.1260C>T (p.Leu420=)
c.1272C>T (p.Leu424=)
c.1122C>T (p.Leu374=)
c.1278C>T (p.Leu426=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.115604670G>CCA4851847TRPS1c.1299C>G (p.Leu433=)
c.1260C>G (p.Leu420=)
c.1272C>G (p.Leu424=)
c.1122C>G (p.Leu374=)
c.1278C>G (p.Leu426=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.115604670G=CA1812961383TRPS1c.1299C= (p.Leu433=)
c.1260C= (p.Leu420=)
c.1272C= (p.Leu424=)
c.1122C= (p.Leu374=)
c.1278C= (p.Leu426=)
8g.115604670G>TCA462659051TRPS1c.1299C>A (p.Leu433=)
c.1260C>A (p.Leu420=)
c.1272C>A (p.Leu424=)
c.1122C>A (p.Leu374=)
c.1278C>A (p.Leu426=)
8g.115604671A>CCA372067719TRPS1c.1298T>G (p.Leu433Arg)
c.1259T>G (p.Leu420Arg)
c.1271T>G (p.Leu424Arg)
c.1121T>G (p.Leu374Arg)
c.1277T>G (p.Leu426Arg)
8g.115604671A>GCA372067718TRPS1c.1298T>C (p.Leu433Pro)
c.1259T>C (p.Leu420Pro)
c.1271T>C (p.Leu424Pro)
c.1121T>C (p.Leu374Pro)
c.1277T>C (p.Leu426Pro)
8g.115604671A>TCA372067717TRPS1c.1298T>A (p.Leu433His)
c.1259T>A (p.Leu420His)
c.1271T>A (p.Leu424His)
c.1121T>A (p.Leu374His)
c.1277T>A (p.Leu426His)
8g.115604672G>ACA372067720TRPS1c.1297C>T (p.Leu433Phe)
c.1258C>T (p.Leu420Phe)
c.1270C>T (p.Leu424Phe)
c.1120C>T (p.Leu374Phe)
c.1276C>T (p.Leu426Phe)
 gnomAD v4
8g.115604672G>CCA372067721TRPS1c.1297C>G (p.Leu433Val)
c.1258C>G (p.Leu420Val)
c.1270C>G (p.Leu424Val)
c.1120C>G (p.Leu374Val)
c.1276C>G (p.Leu426Val)
8g.115604672G>TCA372067722TRPS1c.1297C>A (p.Leu433Ile)
c.1258C>A (p.Leu420Ile)
c.1270C>A (p.Leu424Ile)
c.1120C>A (p.Leu374Ile)
c.1276C>A (p.Leu426Ile)
8g.115604672_115604681delinsGGGGCTTTATCA1812961384TRPS1c.1288_1297delinsATAAAGCCCC (p.Ile430=)
c.1249_1258delinsATAAAGCCCC (p.Ile417=)
c.1261_1270delinsATAAAGCCCC (p.Ile421=)
c.1111_1120delinsATAAAGCCCC (p.Ile371=)
c.1267_1276delinsATAAAGCCCC (p.Ile423=)
8g.115604673G>ACA462659063TRPS1c.1296C>T (p.Pro432=)
c.1257C>T (p.Pro419=)
c.1269C>T (p.Pro423=)
c.1119C>T (p.Pro373=)
c.1275C>T (p.Pro425=)
8g.115604673G>CCA462659064TRPS1c.1296C>G (p.Pro432=)
c.1257C>G (p.Pro419=)
c.1269C>G (p.Pro423=)
c.1119C>G (p.Pro373=)
c.1275C>G (p.Pro425=)
8g.115604673G>TCA462659061TRPS1c.1296C>A (p.Pro432=)
c.1257C>A (p.Pro419=)
c.1269C>A (p.Pro423=)
c.1119C>A (p.Pro373=)
c.1275C>A (p.Pro425=)
8g.115604677_115604685delCA4851849TRPS1c.1288_1296del (p.Ile430_Pro432del)
c.1249_1257del (p.Ile417_Pro419del)
c.1261_1269del (p.Ile421_Pro423del)
c.1111_1119del (p.Ile371_Pro373del)
c.1267_1275del (p.Ile423_Pro425del)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.115604674G>ACA372067723TRPS1c.1295C>T (p.Pro432Leu)
c.1256C>T (p.Pro419Leu)
c.1268C>T (p.Pro423Leu)
c.1118C>T (p.Pro373Leu)
c.1274C>T (p.Pro425Leu)
8g.115604674G>CCA372067724TRPS1c.1295C>G (p.Pro432Arg)
c.1256C>G (p.Pro419Arg)
c.1268C>G (p.Pro423Arg)
c.1118C>G (p.Pro373Arg)
c.1274C>G (p.Pro425Arg)
8g.115604674G=CA1812961385TRPS1c.1295C= (p.Pro432=)
c.1256C= (p.Pro419=)
c.1268C= (p.Pro423=)
c.1118C= (p.Pro373=)
c.1274C= (p.Pro425=)
8g.115604674G>TCA372067725TRPS1c.1295C>A (p.Pro432His)
c.1256C>A (p.Pro419His)
c.1268C>A (p.Pro423His)
c.1118C>A (p.Pro373His)
c.1274C>A (p.Pro425His)
 dbSNP gnomAD v2 gnomAD v4
8g.115604675G>ACA4851850TRPS1c.1294C>T (p.Pro432Ser)
c.1255C>T (p.Pro419Ser)
c.1267C>T (p.Pro423Ser)
c.1117C>T (p.Pro373Ser)
c.1273C>T (p.Pro425Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.115604675G>CCA372067726TRPS1c.1294C>G (p.Pro432Ala)
c.1255C>G (p.Pro419Ala)
c.1267C>G (p.Pro423Ala)
c.1117C>G (p.Pro373Ala)
c.1273C>G (p.Pro425Ala)
8g.115604675G=CA1812961386TRPS1c.1294C= (p.Pro432=)
c.1255C= (p.Pro419=)
c.1267C= (p.Pro423=)
c.1117C= (p.Pro373=)
c.1273C= (p.Pro425=)
8g.115604675G>TCA372067727TRPS1c.1294C>A (p.Pro432Thr)
c.1255C>A (p.Pro419Thr)
c.1267C>A (p.Pro423Thr)
c.1117C>A (p.Pro373Thr)
c.1273C>A (p.Pro425Thr)
 dbSNP gnomAD v2 gnomAD v4
8g.115604676C>ACA372067728TRPS1c.1293G>T (p.Lys431Asn)
c.1254G>T (p.Lys418Asn)
c.1266G>T (p.Lys422Asn)
c.1116G>T (p.Lys372Asn)
c.1272G>T (p.Lys424Asn)
 dbSNP gnomAD v4
8g.115604676C=CA1812961387TRPS1c.1293G= (p.Lys431=)
c.1254G= (p.Lys418=)
c.1266G= (p.Lys422=)
c.1116G= (p.Lys372=)
c.1272G= (p.Lys424=)
8g.115604676C>GCA372067729TRPS1c.1293G>C (p.Lys431Asn)
c.1254G>C (p.Lys418Asn)
c.1266G>C (p.Lys422Asn)
c.1116G>C (p.Lys372Asn)
c.1272G>C (p.Lys424Asn)
8g.115604676C>TCA462659073TRPS1c.1293G>A (p.Lys431=)
c.1254G>A (p.Lys418=)
c.1266G>A (p.Lys422=)
c.1116G>A (p.Lys372=)
c.1272G>A (p.Lys424=)
8g.115604677T>ACA372067731TRPS1c.1292A>T (p.Lys431Met)
c.1253A>T (p.Lys418Met)
c.1265A>T (p.Lys422Met)
c.1115A>T (p.Lys372Met)
c.1271A>T (p.Lys424Met)
8g.115604677T>CCA372067732TRPS1c.1292A>G (p.Lys431Arg)
c.1253A>G (p.Lys418Arg)
c.1265A>G (p.Lys422Arg)
c.1115A>G (p.Lys372Arg)
c.1271A>G (p.Lys424Arg)
8g.115604677T>GCA372067730TRPS1c.1292A>C (p.Lys431Thr)
c.1253A>C (p.Lys418Thr)
c.1265A>C (p.Lys422Thr)
c.1115A>C (p.Lys372Thr)
c.1271A>C (p.Lys424Thr)
8g.115604678T>ACA372067735TRPS1c.1291A>T (p.Lys431Ter)
c.1252A>T (p.Lys418Ter)
c.1264A>T (p.Lys422Ter)
c.1114A>T (p.Lys372Ter)
c.1270A>T (p.Lys424Ter)
8g.115604678T>CCA372067733TRPS1c.1291A>G (p.Lys431Glu)
c.1252A>G (p.Lys418Glu)
c.1264A>G (p.Lys422Glu)
c.1114A>G (p.Lys372Glu)
c.1270A>G (p.Lys424Glu)
8g.115604678T>GCA372067734TRPS1c.1291A>C (p.Lys431Gln)
c.1252A>C (p.Lys418Gln)
c.1264A>C (p.Lys422Gln)
c.1114A>C (p.Lys372Gln)
c.1270A>C (p.Lys424Gln)
8g.115604679T>ACA4851851TRPS1c.1290A>T (p.Ile430=)
c.1251A>T (p.Ile417=)
c.1263A>T (p.Ile421=)
c.1113A>T (p.Ile371=)
c.1269A>T (p.Ile423=)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.115604679T>CCA372067736TRPS1c.1290A>G (p.Ile430Met)
c.1251A>G (p.Ile417Met)
c.1263A>G (p.Ile421Met)
c.1113A>G (p.Ile371Met)
c.1269A>G (p.Ile423Met)
8g.115604679T>GCA462659079TRPS1c.1290A>C (p.Ile430=)
c.1251A>C (p.Ile417=)
c.1263A>C (p.Ile421=)
c.1113A>C (p.Ile371=)
c.1269A>C (p.Ile423=)
8g.115604679T=CA1812961388TRPS1c.1290A= (p.Ile430=)
c.1251A= (p.Ile417=)
c.1263A= (p.Ile421=)
c.1113A= (p.Ile371=)
c.1269A= (p.Ile423=)
8g.115604680A>CCA372067737TRPS1c.1289T>G (p.Ile430Arg)
c.1250T>G (p.Ile417Arg)
c.1262T>G (p.Ile421Arg)
c.1112T>G (p.Ile371Arg)
c.1268T>G (p.Ile423Arg)
 gnomAD v4
8g.115604680A>GCA372067738TRPS1c.1289T>C (p.Ile430Thr)
c.1250T>C (p.Ile417Thr)
c.1262T>C (p.Ile421Thr)
c.1112T>C (p.Ile371Thr)
c.1268T>C (p.Ile423Thr)
8g.115604680A>TCA372067739TRPS1c.1289T>A (p.Ile430Lys)
c.1250T>A (p.Ile417Lys)
c.1262T>A (p.Ile421Lys)
c.1112T>A (p.Ile371Lys)
c.1268T>A (p.Ile423Lys)
8g.115604681T>ACA372067740TRPS1c.1288A>T (p.Ile430Leu)
c.1249A>T (p.Ile417Leu)
c.1261A>T (p.Ile421Leu)
c.1111A>T (p.Ile371Leu)
c.1267A>T (p.Ile423Leu)
8g.115604681T>CCA372067741TRPS1c.1288A>G (p.Ile430Val)
c.1249A>G (p.Ile417Val)
c.1261A>G (p.Ile421Val)
c.1111A>G (p.Ile371Val)
c.1267A>G (p.Ile423Val)
8g.115604681T>GCA372067742TRPS1c.1288A>C (p.Ile430Leu)
c.1249A>C (p.Ile417Leu)
c.1261A>C (p.Ile421Leu)
c.1111A>C (p.Ile371Leu)
c.1267A>C (p.Ile423Leu)
8g.115604682G>ACA462659085TRPS1c.1287C>T (p.Pro429=)
c.1248C>T (p.Pro416=)
c.1260C>T (p.Pro420=)
c.1110C>T (p.Pro370=)
c.1266C>T (p.Pro422=)
8g.115604682G>CCA462659086TRPS1c.1287C>G (p.Pro429=)
c.1248C>G (p.Pro416=)
c.1260C>G (p.Pro420=)
c.1110C>G (p.Pro370=)
c.1266C>G (p.Pro422=)
8g.115604682G=CA1812961389TRPS1c.1287C= (p.Pro429=)
c.1248C= (p.Pro416=)
c.1260C= (p.Pro420=)
c.1110C= (p.Pro370=)
c.1266C= (p.Pro422=)
8g.115604682G>TCA462659087TRPS1c.1287C>A (p.Pro429=)
c.1248C>A (p.Pro416=)
c.1260C>A (p.Pro420=)
c.1110C>A (p.Pro370=)
c.1266C>A (p.Pro422=)
 dbSNP
8g.115604683G>ACA372067743TRPS1c.1286C>T (p.Pro429Leu)
c.1247C>T (p.Pro416Leu)
c.1259C>T (p.Pro420Leu)
c.1109C>T (p.Pro370Leu)
c.1265C>T (p.Pro422Leu)
 dbSNP gnomAD v2 gnomAD v4
8g.115604683G>CCA372067744TRPS1c.1286C>G (p.Pro429Arg)
c.1247C>G (p.Pro416Arg)
c.1259C>G (p.Pro420Arg)
c.1109C>G (p.Pro370Arg)
c.1265C>G (p.Pro422Arg)
8g.115604683G=CA1812961390TRPS1c.1286C= (p.Pro429=)
c.1247C= (p.Pro416=)
c.1259C= (p.Pro420=)
c.1109C= (p.Pro370=)
c.1265C= (p.Pro422=)
8g.115604683G>TCA372067745TRPS1c.1286C>A (p.Pro429His)
c.1247C>A (p.Pro416His)
c.1259C>A (p.Pro420His)
c.1109C>A (p.Pro370His)
c.1265C>A (p.Pro422His)
8g.115604684G>ACA372067748TRPS1c.1285C>T (p.Pro429Ser)
c.1246C>T (p.Pro416Ser)
c.1258C>T (p.Pro420Ser)
c.1108C>T (p.Pro370Ser)
c.1264C>T (p.Pro422Ser)
8g.115604684G>CCA372067746TRPS1c.1285C>G (p.Pro429Ala)
c.1246C>G (p.Pro416Ala)
c.1258C>G (p.Pro420Ala)
c.1108C>G (p.Pro370Ala)
c.1264C>G (p.Pro422Ala)
8g.115604684G>TCA372067747TRPS1c.1285C>A (p.Pro429Thr)
c.1246C>A (p.Pro416Thr)
c.1258C>A (p.Pro420Thr)
c.1108C>A (p.Pro370Thr)
c.1264C>A (p.Pro422Thr)
8g.115604685C>ACA462659094TRPS1c.1284G>T (p.Val428=)
c.1245G>T (p.Val415=)
c.1257G>T (p.Val419=)
c.1107G>T (p.Val369=)
c.1263G>T (p.Val421=)
8g.115604685C=CA1812961391TRPS1c.1284G= (p.Val428=)
c.1245G= (p.Val415=)
c.1257G= (p.Val419=)
c.1107G= (p.Val369=)
c.1263G= (p.Val421=)
8g.115604685C>GCA462659095TRPS1c.1284G>C (p.Val428=)
c.1245G>C (p.Val415=)
c.1257G>C (p.Val419=)
c.1107G>C (p.Val369=)
c.1263G>C (p.Val421=)
8g.115604685C>TCA462659096TRPS1c.1284G>A (p.Val428=)
c.1245G>A (p.Val415=)
c.1257G>A (p.Val419=)
c.1107G>A (p.Val369=)
c.1263G>A (p.Val421=)
 dbSNP gnomAD v2
8g.115604686A>CCA372067749TRPS1c.1283T>G (p.Val428Gly)
c.1244T>G (p.Val415Gly)
c.1256T>G (p.Val419Gly)
c.1106T>G (p.Val369Gly)
c.1262T>G (p.Val421Gly)
8g.115604686A>GCA372067750TRPS1c.1283T>C (p.Val428Ala)
c.1244T>C (p.Val415Ala)
c.1256T>C (p.Val419Ala)
c.1106T>C (p.Val369Ala)
c.1262T>C (p.Val421Ala)
8g.115604686A>TCA372067751TRPS1c.1283T>A (p.Val428Glu)
c.1244T>A (p.Val415Glu)
c.1256T>A (p.Val419Glu)
c.1106T>A (p.Val369Glu)
c.1262T>A (p.Val421Glu)
8g.115604687C>ACA372067752TRPS1c.1282G>T (p.Val428Leu)
c.1243G>T (p.Val415Leu)
c.1255G>T (p.Val419Leu)
c.1105G>T (p.Val369Leu)
c.1261G>T (p.Val421Leu)
8g.115604687C=CA1812961392TRPS1c.1282G= (p.Val428=)
c.1243G= (p.Val415=)
c.1255G= (p.Val419=)
c.1105G= (p.Val369=)
c.1261G= (p.Val421=)
8g.115604687C>GCA372067753TRPS1c.1282G>C (p.Val428Leu)
c.1243G>C (p.Val415Leu)
c.1255G>C (p.Val419Leu)
c.1105G>C (p.Val369Leu)
c.1261G>C (p.Val421Leu)
8g.115604687C>TCA372067754TRPS1c.1282G>A (p.Val428Met)
c.1243G>A (p.Val415Met)
c.1255G>A (p.Val419Met)
c.1105G>A (p.Val369Met)
c.1261G>A (p.Val421Met)
 dbSNP
8g.115604688T>ACA462659104TRPS1c.1281A>T (p.Ser427=)
c.1242A>T (p.Ser414=)
c.1254A>T (p.Ser418=)
c.1104A>T (p.Ser368=)
c.1260A>T (p.Ser420=)
8g.115604688T>CCA462659105TRPS1c.1281A>G (p.Ser427=)
c.1242A>G (p.Ser414=)
c.1254A>G (p.Ser418=)
c.1104A>G (p.Ser368=)
c.1260A>G (p.Ser420=)
8g.115604688T>GCA462659106TRPS1c.1281A>C (p.Ser427=)
c.1242A>C (p.Ser414=)
c.1254A>C (p.Ser418=)
c.1104A>C (p.Ser368=)
c.1260A>C (p.Ser420=)
8g.115604689G>ACA372067755TRPS1c.1280C>T (p.Ser427Leu)
c.1241C>T (p.Ser414Leu)
c.1253C>T (p.Ser418Leu)
c.1103C>T (p.Ser368Leu)
c.1259C>T (p.Ser420Leu)
 gnomAD v4
8g.115604689G>CCA372067756TRPS1c.1280C>G (p.Ser427Ter)
c.1241C>G (p.Ser414Ter)
c.1253C>G (p.Ser418Ter)
c.1103C>G (p.Ser368Ter)
c.1259C>G (p.Ser420Ter)
8g.115604689G>TCA372067757TRPS1c.1280C>A (p.Ser427Ter)
c.1241C>A (p.Ser414Ter)
c.1253C>A (p.Ser418Ter)
c.1103C>A (p.Ser368Ter)
c.1259C>A (p.Ser420Ter)
8g.115604690A=CA1812961393TRPS1c.1279T= (p.Ser427=)
c.1240T= (p.Ser414=)
c.1252T= (p.Ser418=)
c.1102T= (p.Ser368=)
c.1258T= (p.Ser420=)
8g.115604690A>CCA4851852TRPS1c.1279T>G (p.Ser427Ala)
c.1240T>G (p.Ser414Ala)
c.1252T>G (p.Ser418Ala)
c.1102T>G (p.Ser368Ala)
c.1258T>G (p.Ser420Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.115604690A>GCA372067758TRPS1c.1279T>C (p.Ser427Pro)
c.1240T>C (p.Ser414Pro)
c.1252T>C (p.Ser418Pro)
c.1102T>C (p.Ser368Pro)
c.1258T>C (p.Ser420Pro)
8g.115604690A>TCA372067759TRPS1c.1279T>A (p.Ser427Thr)
c.1240T>A (p.Ser414Thr)
c.1252T>A (p.Ser418Thr)
c.1102T>A (p.Ser368Thr)
c.1258T>A (p.Ser420Thr)
8g.115604691G>ACA462659110TRPS1c.1278C>T (p.Tyr426=)
c.1239C>T (p.Tyr413=)
c.1251C>T (p.Tyr417=)
c.1101C>T (p.Tyr367=)
c.1257C>T (p.Tyr419=)
8g.115604691G>CCA372067760TRPS1c.1278C>G (p.Tyr426Ter)
c.1239C>G (p.Tyr413Ter)
c.1251C>G (p.Tyr417Ter)
c.1101C>G (p.Tyr367Ter)
c.1257C>G (p.Tyr419Ter)
8g.115604691G>TCA372067761TRPS1c.1278C>A (p.Tyr426Ter)
c.1239C>A (p.Tyr413Ter)
c.1251C>A (p.Tyr417Ter)
c.1101C>A (p.Tyr367Ter)
c.1257C>A (p.Tyr419Ter)
8g.115604692T>ACA372067762TRPS1c.1277A>T (p.Tyr426Phe)
c.1238A>T (p.Tyr413Phe)
c.1250A>T (p.Tyr417Phe)
c.1100A>T (p.Tyr367Phe)
c.1256A>T (p.Tyr419Phe)
8g.115604692T>CCA184615078TRPS1c.1277A>G (p.Tyr426Cys)
c.1238A>G (p.Tyr413Cys)
c.1250A>G (p.Tyr417Cys)
c.1100A>G (p.Tyr367Cys)
c.1256A>G (p.Tyr419Cys)
 dbSNP
8g.115604692T>GCA372067763TRPS1c.1277A>C (p.Tyr426Ser)
c.1238A>C (p.Tyr413Ser)
c.1250A>C (p.Tyr417Ser)
c.1100A>C (p.Tyr367Ser)
c.1256A>C (p.Tyr419Ser)
8g.115604692T=CA1812961394TRPS1c.1277A= (p.Tyr426=)
c.1238A= (p.Tyr413=)
c.1250A= (p.Tyr417=)
c.1100A= (p.Tyr367=)
c.1256A= (p.Tyr419=)
8g.115604693A>CCA372067764TRPS1c.1276T>G (p.Tyr426Asp)
c.1237T>G (p.Tyr413Asp)
c.1249T>G (p.Tyr417Asp)
c.1099T>G (p.Tyr367Asp)
c.1255T>G (p.Tyr419Asp)
8g.115604693A>GCA372067765TRPS1c.1276T>C (p.Tyr426His)
c.1237T>C (p.Tyr413His)
c.1249T>C (p.Tyr417His)
c.1099T>C (p.Tyr367His)
c.1255T>C (p.Tyr419His)
8g.115604693A>TCA372067766TRPS1c.1276T>A (p.Tyr426Asn)
c.1237T>A (p.Tyr413Asn)
c.1249T>A (p.Tyr417Asn)
c.1099T>A (p.Tyr367Asn)
c.1255T>A (p.Tyr419Asn)
8g.115604694C>ACA462659126TRPS1c.1275G>T (p.Gly425=)
c.1236G>T (p.Gly412=)
c.1248G>T (p.Gly416=)
c.1098G>T (p.Gly366=)
c.1254G>T (p.Gly418=)
8g.115604694C>GCA462659135TRPS1c.1275G>C (p.Gly425=)
c.1236G>C (p.Gly412=)
c.1248G>C (p.Gly416=)
c.1098G>C (p.Gly366=)
c.1254G>C (p.Gly418=)
8g.115604694C>TCA462659128TRPS1c.1275G>A (p.Gly425=)
c.1236G>A (p.Gly412=)
c.1248G>A (p.Gly416=)
c.1098G>A (p.Gly366=)
c.1254G>A (p.Gly418=)
8g.115604695C>ACA372067767TRPS1c.1274G>T (p.Gly425Val)
c.1235G>T (p.Gly412Val)
c.1247G>T (p.Gly416Val)
c.1097G>T (p.Gly366Val)
c.1253G>T (p.Gly418Val)
8g.115604695C=CA1812961395TRPS1c.1274G= (p.Gly425=)
c.1235G= (p.Gly412=)
c.1247G= (p.Gly416=)
c.1097G= (p.Gly366=)
c.1253G= (p.Gly418=)
8g.115604695C>GCA372067768TRPS1c.1274G>C (p.Gly425Ala)
c.1235G>C (p.Gly412Ala)
c.1247G>C (p.Gly416Ala)
c.1097G>C (p.Gly366Ala)
c.1253G>C (p.Gly418Ala)
8g.115604695C>TCA372067769TRPS1c.1274G>A (p.Gly425Glu)
c.1235G>A (p.Gly412Glu)
c.1247G>A (p.Gly416Glu)
c.1097G>A (p.Gly366Glu)
c.1253G>A (p.Gly418Glu)
 dbSNP gnomAD v3 gnomAD v4
8g.115604696C>ACA372067770TRPS1c.1273G>T (p.Gly425Trp)
c.1234G>T (p.Gly412Trp)
c.1246G>T (p.Gly416Trp)
c.1096G>T (p.Gly366Trp)
c.1252G>T (p.Gly418Trp)
8g.115604696C>GCA372067771TRPS1c.1273G>C (p.Gly425Arg)
c.1234G>C (p.Gly412Arg)
c.1246G>C (p.Gly416Arg)
c.1096G>C (p.Gly366Arg)
c.1252G>C (p.Gly418Arg)
8g.115604696C>TCA372067772TRPS1c.1273G>A (p.Gly425Arg)
c.1234G>A (p.Gly412Arg)
c.1246G>A (p.Gly416Arg)
c.1096G>A (p.Gly366Arg)
c.1252G>A (p.Gly418Arg)
8g.115604697A>CCA462659144TRPS1c.1272T>G (p.Val424=)
c.1233T>G (p.Val411=)
c.1245T>G (p.Val415=)
c.1095T>G (p.Val365=)
c.1251T>G (p.Val417=)
8g.115604697A>GCA462659146TRPS1c.1272T>C (p.Val424=)
c.1233T>C (p.Val411=)
c.1245T>C (p.Val415=)
c.1095T>C (p.Val365=)
c.1251T>C (p.Val417=)
8g.115604697A>TCA462659147TRPS1c.1272T>A (p.Val424=)
c.1233T>A (p.Val411=)
c.1245T>A (p.Val415=)
c.1095T>A (p.Val365=)
c.1251T>A (p.Val417=)
8g.115604698A>CCA372067774TRPS1c.1271T>G (p.Val424Gly)
c.1232T>G (p.Val411Gly)
c.1244T>G (p.Val415Gly)
c.1094T>G (p.Val365Gly)
c.1250T>G (p.Val417Gly)
8g.115604698A>GCA372067775TRPS1c.1271T>C (p.Val424Ala)
c.1232T>C (p.Val411Ala)
c.1244T>C (p.Val415Ala)
c.1094T>C (p.Val365Ala)
c.1250T>C (p.Val417Ala)
8g.115604698A>TCA372067773TRPS1c.1271T>A (p.Val424Asp)
c.1232T>A (p.Val411Asp)
c.1244T>A (p.Val415Asp)
c.1094T>A (p.Val365Asp)
c.1250T>A (p.Val417Asp)
8g.115604699C>ACA372067776TRPS1c.1270G>T (p.Val424Phe)
c.1231G>T (p.Val411Phe)
c.1243G>T (p.Val415Phe)
c.1093G>T (p.Val365Phe)
c.1249G>T (p.Val417Phe)
8g.115604699C=CA1812961396TRPS1c.1270G= (p.Val424=)
c.1231G= (p.Val411=)
c.1243G= (p.Val415=)
c.1093G= (p.Val365=)
c.1249G= (p.Val417=)
8g.115604699C>GCA372067777TRPS1c.1270G>C (p.Val424Leu)
c.1231G>C (p.Val411Leu)
c.1243G>C (p.Val415Leu)
c.1093G>C (p.Val365Leu)
c.1249G>C (p.Val417Leu)
 dbSNP gnomAD v2 gnomAD v4
8g.115604699C>TCA372067778TRPS1c.1270G>A (p.Val424Ile)
c.1231G>A (p.Val411Ile)
c.1243G>A (p.Val415Ile)
c.1093G>A (p.Val365Ile)
c.1249G>A (p.Val417Ile)
 gnomAD v4
8g.115604700A>CCA462659156TRPS1c.1269T>G (p.Pro423=)
c.1230T>G (p.Pro410=)
c.1242T>G (p.Pro414=)
c.1092T>G (p.Pro364=)
c.1248T>G (p.Pro416=)
8g.115604700A>GCA462659157TRPS1c.1269T>C (p.Pro423=)
c.1230T>C (p.Pro410=)
c.1242T>C (p.Pro414=)
c.1092T>C (p.Pro364=)
c.1248T>C (p.Pro416=)
8g.115604700A>TCA462659160TRPS1c.1269T>A (p.Pro423=)
c.1230T>A (p.Pro410=)
c.1242T>A (p.Pro414=)
c.1092T>A (p.Pro364=)
c.1248T>A (p.Pro416=)
8g.115604701G>ACA372067779TRPS1c.1268C>T (p.Pro423Leu)
c.1229C>T (p.Pro410Leu)
c.1241C>T (p.Pro414Leu)
c.1091C>T (p.Pro364Leu)
c.1247C>T (p.Pro416Leu)
8g.115604701G>CCA372067780TRPS1c.1268C>G (p.Pro423Arg)
c.1229C>G (p.Pro410Arg)
c.1241C>G (p.Pro414Arg)
c.1091C>G (p.Pro364Arg)
c.1247C>G (p.Pro416Arg)
8g.115604701G>TCA372067781TRPS1c.1268C>A (p.Pro423His)
c.1229C>A (p.Pro410His)
c.1241C>A (p.Pro414His)
c.1091C>A (p.Pro364His)
c.1247C>A (p.Pro416His)
8g.115604702G>ACA184615080TRPS1c.1267C>T (p.Pro423Ser)
c.1228C>T (p.Pro410Ser)
c.1240C>T (p.Pro414Ser)
c.1090C>T (p.Pro364Ser)
c.1246C>T (p.Pro416Ser)
 dbSNP gnomAD v4
8g.115604702G>CCA372067783TRPS1c.1267C>G (p.Pro423Ala)
c.1228C>G (p.Pro410Ala)
c.1240C>G (p.Pro414Ala)
c.1090C>G (p.Pro364Ala)
c.1246C>G (p.Pro416Ala)
8g.115604702G=CA1812961397TRPS1c.1267C= (p.Pro423=)
c.1228C= (p.Pro410=)
c.1240C= (p.Pro414=)
c.1090C= (p.Pro364=)
c.1246C= (p.Pro416=)
8g.115604702G>TCA372067782TRPS1c.1267C>A (p.Pro423Thr)
c.1228C>A (p.Pro410Thr)
c.1240C>A (p.Pro414Thr)
c.1090C>A (p.Pro364Thr)
c.1246C>A (p.Pro416Thr)
8g.115604703A=CA1812961398TRPS1c.1266T= (p.Thr422=)
c.1227T= (p.Thr409=)
c.1239T= (p.Thr413=)
c.1089T= (p.Thr363=)
c.1245T= (p.Thr415=)
8g.115604703A>CCA462659169TRPS1c.1266T>G (p.Thr422=)
c.1227T>G (p.Thr409=)
c.1239T>G (p.Thr413=)
c.1089T>G (p.Thr363=)
c.1245T>G (p.Thr415=)
8g.115604703A>GCA4851853TRPS1c.1266T>C (p.Thr422=)
c.1227T>C (p.Thr409=)
c.1239T>C (p.Thr413=)
c.1089T>C (p.Thr363=)
c.1245T>C (p.Thr415=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.115604703A>TCA4851854TRPS1c.1266T>A (p.Thr422=)
c.1227T>A (p.Thr409=)
c.1239T>A (p.Thr413=)
c.1089T>A (p.Thr363=)
c.1245T>A (p.Thr415=)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.115604704G>ACA372067784TRPS1c.1265C>T (p.Thr422Ile)
c.1226C>T (p.Thr409Ile)
c.1238C>T (p.Thr413Ile)
c.1088C>T (p.Thr363Ile)
c.1244C>T (p.Thr415Ile)
8g.115604704G>CCA372067785TRPS1c.1265C>G (p.Thr422Ser)
c.1226C>G (p.Thr409Ser)
c.1238C>G (p.Thr413Ser)
c.1088C>G (p.Thr363Ser)
c.1244C>G (p.Thr415Ser)
8g.115604704G>TCA372067786TRPS1c.1265C>A (p.Thr422Asn)
c.1226C>A (p.Thr409Asn)
c.1238C>A (p.Thr413Asn)
c.1088C>A (p.Thr363Asn)
c.1244C>A (p.Thr415Asn)
8g.115604705T>ACA372067788TRPS1c.1264A>T (p.Thr422Ser)
c.1225A>T (p.Thr409Ser)
c.1237A>T (p.Thr413Ser)
c.1087A>T (p.Thr363Ser)
c.1243A>T (p.Thr415Ser)
8g.115604705T>CCA372067789TRPS1c.1264A>G (p.Thr422Ala)
c.1225A>G (p.Thr409Ala)
c.1237A>G (p.Thr413Ala)
c.1087A>G (p.Thr363Ala)
c.1243A>G (p.Thr415Ala)
8g.115604705T>GCA372067787TRPS1c.1264A>C (p.Thr422Pro)
c.1225A>C (p.Thr409Pro)
c.1237A>C (p.Thr413Pro)
c.1087A>C (p.Thr363Pro)
c.1243A>C (p.Thr415Pro)
8g.115604706G>ACA462659184TRPS1c.1263C>T (p.Asp421=)
c.1224C>T (p.Asp408=)
c.1236C>T (p.Asp412=)
c.1086C>T (p.Asp362=)
c.1242C>T (p.Asp414=)
8g.115604706G>CCA372067791TRPS1c.1263C>G (p.Asp421Glu)
c.1224C>G (p.Asp408Glu)
c.1236C>G (p.Asp412Glu)
c.1086C>G (p.Asp362Glu)
c.1242C>G (p.Asp414Glu)
8g.115604706G>TCA372067790TRPS1c.1263C>A (p.Asp421Glu)
c.1224C>A (p.Asp408Glu)
c.1236C>A (p.Asp412Glu)
c.1086C>A (p.Asp362Glu)
c.1242C>A (p.Asp414Glu)
8g.115604707T>ACA372067793TRPS1c.1262A>T (p.Asp421Val)
c.1223A>T (p.Asp408Val)
c.1235A>T (p.Asp412Val)
c.1085A>T (p.Asp362Val)
c.1241A>T (p.Asp414Val)
8g.115604707T>CCA184615083TRPS1c.1262A>G (p.Asp421Gly)
c.1223A>G (p.Asp408Gly)
c.1235A>G (p.Asp412Gly)
c.1085A>G (p.Asp362Gly)
c.1241A>G (p.Asp414Gly)
 dbSNP
8g.115604707T>GCA372067792TRPS1c.1262A>C (p.Asp421Ala)
c.1223A>C (p.Asp408Ala)
c.1235A>C (p.Asp412Ala)
c.1085A>C (p.Asp362Ala)
c.1241A>C (p.Asp414Ala)
8g.115604707T=CA1812961399TRPS1c.1262A= (p.Asp421=)
c.1223A= (p.Asp408=)
c.1235A= (p.Asp412=)
c.1085A= (p.Asp362=)
c.1241A= (p.Asp414=)
8g.115604708C>ACA372067794TRPS1c.1261G>T (p.Asp421Tyr)
c.1222G>T (p.Asp408Tyr)
c.1234G>T (p.Asp412Tyr)
c.1084G>T (p.Asp362Tyr)
c.1240G>T (p.Asp414Tyr)
8g.115604708C>GCA372067795TRPS1c.1261G>C (p.Asp421His)
c.1222G>C (p.Asp408His)
c.1234G>C (p.Asp412His)
c.1084G>C (p.Asp362His)
c.1240G>C (p.Asp414His)
8g.115604708C>TCA372067796TRPS1c.1261G>A (p.Asp421Asn)
c.1222G>A (p.Asp408Asn)
c.1234G>A (p.Asp412Asn)
c.1084G>A (p.Asp362Asn)
c.1240G>A (p.Asp414Asn)
8g.115604709A=CA1812961400TRPS1c.1260T= (p.Asp420=)
c.1221T= (p.Asp407=)
c.1233T= (p.Asp411=)
c.1083T= (p.Asp361=)
c.1239T= (p.Asp413=)
8g.115604709A>CCA4851855TRPS1c.1260T>G (p.Asp420Glu)
c.1221T>G (p.Asp407Glu)
c.1233T>G (p.Asp411Glu)
c.1083T>G (p.Asp361Glu)
c.1239T>G (p.Asp413Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.115604709A>GCA462659191TRPS1c.1260T>C (p.Asp420=)
c.1221T>C (p.Asp407=)
c.1233T>C (p.Asp411=)
c.1083T>C (p.Asp361=)
c.1239T>C (p.Asp413=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.115604709A>TCA372067797TRPS1c.1260T>A (p.Asp420Glu)
c.1221T>A (p.Asp407Glu)
c.1233T>A (p.Asp411Glu)
c.1083T>A (p.Asp361Glu)
c.1239T>A (p.Asp413Glu)
8g.115604710T>ACA372067798TRPS1c.1259A>T (p.Asp420Val)
c.1220A>T (p.Asp407Val)
c.1232A>T (p.Asp411Val)
c.1082A>T (p.Asp361Val)
c.1238A>T (p.Asp413Val)
8g.115604710T>CCA372067799TRPS1c.1259A>G (p.Asp420Gly)
c.1220A>G (p.Asp407Gly)
c.1232A>G (p.Asp411Gly)
c.1082A>G (p.Asp361Gly)
c.1238A>G (p.Asp413Gly)
8g.115604710T>GCA372067800TRPS1c.1259A>C (p.Asp420Ala)
c.1220A>C (p.Asp407Ala)
c.1232A>C (p.Asp411Ala)
c.1082A>C (p.Asp361Ala)
c.1238A>C (p.Asp413Ala)
 dbSNP gnomAD v3 gnomAD v4
8g.115604710T=CA1812961401TRPS1c.1259A= (p.Asp420=)
c.1220A= (p.Asp407=)
c.1232A= (p.Asp411=)
c.1082A= (p.Asp361=)
c.1238A= (p.Asp413=)
8g.115604711C>ACA372067801TRPS1c.1258G>T (p.Asp420Tyr)
c.1219G>T (p.Asp407Tyr)
c.1231G>T (p.Asp411Tyr)
c.1081G>T (p.Asp361Tyr)
c.1237G>T (p.Asp413Tyr)
8g.115604711C>GCA372067802TRPS1c.1258G>C (p.Asp420His)
c.1219G>C (p.Asp407His)
c.1231G>C (p.Asp411His)
c.1081G>C (p.Asp361His)
c.1237G>C (p.Asp413His)
 COSMIC COSMIC
8g.115604711C>TCA372067803TRPS1c.1258G>A (p.Asp420Asn)
c.1219G>A (p.Asp407Asn)
c.1231G>A (p.Asp411Asn)
c.1081G>A (p.Asp361Asn)
c.1237G>A (p.Asp413Asn)
8g.115604712T>ACA462659206TRPS1c.1257A>T (p.Gly419=)
c.1218A>T (p.Gly406=)
c.1230A>T (p.Gly410=)
c.1080A>T (p.Gly360=)
c.1236A>T (p.Gly412=)
8g.115604712T>CCA462659207TRPS1c.1257A>G (p.Gly419=)
c.1218A>G (p.Gly406=)
c.1230A>G (p.Gly410=)
c.1080A>G (p.Gly360=)
c.1236A>G (p.Gly412=)
8g.115604712T>GCA462659208TRPS1c.1257A>C (p.Gly419=)
c.1218A>C (p.Gly406=)
c.1230A>C (p.Gly410=)
c.1080A>C (p.Gly360=)
c.1236A>C (p.Gly412=)
8g.115604713C>ACA372067806TRPS1c.1256G>T (p.Gly419Val)
c.1217G>T (p.Gly406Val)
c.1229G>T (p.Gly410Val)
c.1079G>T (p.Gly360Val)
c.1235G>T (p.Gly412Val)
 dbSNP
8g.115604713C=CA1812961402TRPS1c.1256G= (p.Gly419=)
c.1217G= (p.Gly406=)
c.1229G= (p.Gly410=)
c.1079G= (p.Gly360=)
c.1235G= (p.Gly412=)
8g.115604713C>GCA372067804TRPS1c.1256G>C (p.Gly419Ala)
c.1217G>C (p.Gly406Ala)
c.1229G>C (p.Gly410Ala)
c.1079G>C (p.Gly360Ala)
c.1235G>C (p.Gly412Ala)
8g.115604713C>TCA372067805TRPS1c.1256G>A (p.Gly419Glu)
c.1217G>A (p.Gly406Glu)
c.1229G>A (p.Gly410Glu)
c.1079G>A (p.Gly360Glu)
c.1235G>A (p.Gly412Glu)
 gnomAD v4
8g.115604714C>ACA372067807TRPS1c.1255G>T (p.Gly419Ter)
c.1216G>T (p.Gly406Ter)
c.1228G>T (p.Gly410Ter)
c.1078G>T (p.Gly360Ter)
c.1234G>T (p.Gly412Ter)
8g.115604714C>GCA372067808TRPS1c.1255G>C (p.Gly419Arg)
c.1216G>C (p.Gly406Arg)
c.1228G>C (p.Gly410Arg)
c.1078G>C (p.Gly360Arg)
c.1234G>C (p.Gly412Arg)
8g.115604714C>TCA372067809TRPS1c.1255G>A (p.Gly419Arg)
c.1216G>A (p.Gly406Arg)
c.1228G>A (p.Gly410Arg)
c.1078G>A (p.Gly360Arg)
c.1234G>A (p.Gly412Arg)
 gnomAD v4
8g.115604715T>ACA462659222TRPS1c.1254A>T (p.Ala418=)
c.1215A>T (p.Ala405=)
c.1227A>T (p.Ala409=)
c.1077A>T (p.Ala359=)
c.1233A>T (p.Ala411=)
8g.115604715T>CCA462659229TRPS1c.1254A>G (p.Ala418=)
c.1215A>G (p.Ala405=)
c.1227A>G (p.Ala409=)
c.1077A>G (p.Ala359=)
c.1233A>G (p.Ala411=)
 dbSNP gnomAD v2 gnomAD v4
8g.115604715T>GCA462659226TRPS1c.1254A>C (p.Ala418=)
c.1215A>C (p.Ala405=)
c.1227A>C (p.Ala409=)
c.1077A>C (p.Ala359=)
c.1233A>C (p.Ala411=)
8g.115604715T=CA1812961403TRPS1c.1254A= (p.Ala418=)
c.1215A= (p.Ala405=)
c.1227A= (p.Ala409=)
c.1077A= (p.Ala359=)
c.1233A= (p.Ala411=)
8g.115604716G>ACA372067810TRPS1c.1253C>T (p.Ala418Val)
c.1214C>T (p.Ala405Val)
c.1226C>T (p.Ala409Val)
c.1076C>T (p.Ala359Val)
c.1232C>T (p.Ala411Val)
 gnomAD v4
8g.115604716G>CCA372067811TRPS1c.1253C>G (p.Ala418Gly)
c.1214C>G (p.Ala405Gly)
c.1226C>G (p.Ala409Gly)
c.1076C>G (p.Ala359Gly)
c.1232C>G (p.Ala411Gly)
8g.115604716G>TCA372067812TRPS1c.1253C>A (p.Ala418Glu)
c.1214C>A (p.Ala405Glu)
c.1226C>A (p.Ala409Glu)
c.1076C>A (p.Ala359Glu)
c.1232C>A (p.Ala411Glu)
8g.115604717C>ACA372067813TRPS1c.1252G>T (p.Ala418Ser)
c.1213G>T (p.Ala405Ser)
c.1225G>T (p.Ala409Ser)
c.1075G>T (p.Ala359Ser)
c.1231G>T (p.Ala411Ser)
8g.115604717C=CA1812961404TRPS1c.1252G= (p.Ala418=)
c.1213G= (p.Ala405=)
c.1225G= (p.Ala409=)
c.1075G= (p.Ala359=)
c.1231G= (p.Ala411=)
8g.115604717C>GCA372067814TRPS1c.1252G>C (p.Ala418Pro)
c.1213G>C (p.Ala405Pro)
c.1225G>C (p.Ala409Pro)
c.1075G>C (p.Ala359Pro)
c.1231G>C (p.Ala411Pro)
8g.115604717C>TCA4851856TRPS1c.1252G>A (p.Ala418Thr)
c.1213G>A (p.Ala405Thr)
c.1225G>A (p.Ala409Thr)
c.1075G>A (p.Ala359Thr)
c.1231G>A (p.Ala411Thr)
 dbSNP ExAC gnomAD v2
8g.115604718T>ACA372067815TRPS1c.1251A>T (p.Lys417Asn)
c.1212A>T (p.Lys404Asn)
c.1224A>T (p.Lys408Asn)
c.1074A>T (p.Lys358Asn)
c.1230A>T (p.Lys410Asn)
8g.115604718T>CCA462659247TRPS1c.1251A>G (p.Lys417=)
c.1212A>G (p.Lys404=)
c.1224A>G (p.Lys408=)
c.1074A>G (p.Lys358=)
c.1230A>G (p.Lys410=)
8g.115604718T>GCA372067816TRPS1c.1251A>C (p.Lys417Asn)
c.1212A>C (p.Lys404Asn)
c.1224A>C (p.Lys408Asn)
c.1074A>C (p.Lys358Asn)
c.1230A>C (p.Lys410Asn)
8g.115604719T>ACA372067819TRPS1c.1250A>T (p.Lys417Ile)
c.1211A>T (p.Lys404Ile)
c.1223A>T (p.Lys408Ile)
c.1073A>T (p.Lys358Ile)
c.1229A>T (p.Lys410Ile)
8g.115604719T>CCA372067818TRPS1c.1250A>G (p.Lys417Arg)
c.1211A>G (p.Lys404Arg)
c.1223A>G (p.Lys408Arg)
c.1073A>G (p.Lys358Arg)
c.1229A>G (p.Lys410Arg)
8g.115604719T>GCA372067817TRPS1c.1250A>C (p.Lys417Thr)
c.1211A>C (p.Lys404Thr)
c.1223A>C (p.Lys408Thr)
c.1073A>C (p.Lys358Thr)
c.1229A>C (p.Lys410Thr)
8g.115604720T>ACA372067820TRPS1c.1249A>T (p.Lys417Ter)
c.1210A>T (p.Lys404Ter)
c.1222A>T (p.Lys408Ter)
c.1072A>T (p.Lys358Ter)
c.1228A>T (p.Lys410Ter)
8g.115604720T>CCA372067821TRPS1c.1249A>G (p.Lys417Glu)
c.1210A>G (p.Lys404Glu)
c.1222A>G (p.Lys408Glu)
c.1072A>G (p.Lys358Glu)
c.1228A>G (p.Lys410Glu)
8g.115604720T>GCA372067822TRPS1c.1249A>C (p.Lys417Gln)
c.1210A>C (p.Lys404Gln)
c.1222A>C (p.Lys408Gln)
c.1072A>C (p.Lys358Gln)
c.1228A>C (p.Lys410Gln)
 dbSNP
8g.115604720T=CA1812961405TRPS1c.1249A= (p.Lys417=)
c.1210A= (p.Lys404=)
c.1222A= (p.Lys408=)
c.1072A= (p.Lys358=)
c.1228A= (p.Lys410=)
8g.115604721G>ACA462659265TRPS1c.1248C>T (p.Val416=)
c.1209C>T (p.Val403=)
c.1221C>T (p.Val407=)
c.1071C>T (p.Val357=)
c.1227C>T (p.Val409=)
8g.115604721G>CCA462659266TRPS1c.1248C>G (p.Val416=)
c.1209C>G (p.Val403=)
c.1221C>G (p.Val407=)
c.1071C>G (p.Val357=)
c.1227C>G (p.Val409=)
 gnomAD v4
8g.115604721G>TCA462659268TRPS1c.1248C>A (p.Val416=)
c.1209C>A (p.Val403=)
c.1221C>A (p.Val407=)
c.1071C>A (p.Val357=)
c.1227C>A (p.Val409=)
8g.115604722A>CCA372067823TRPS1c.1247T>G (p.Val416Gly)
c.1208T>G (p.Val403Gly)
c.1220T>G (p.Val407Gly)
c.1070T>G (p.Val357Gly)
c.1226T>G (p.Val409Gly)
8g.115604722A>GCA372067824TRPS1c.1247T>C (p.Val416Ala)
c.1208T>C (p.Val403Ala)
c.1220T>C (p.Val407Ala)
c.1070T>C (p.Val357Ala)
c.1226T>C (p.Val409Ala)
8g.115604722A>TCA372067825TRPS1c.1247T>A (p.Val416Asp)
c.1208T>A (p.Val403Asp)
c.1220T>A (p.Val407Asp)
c.1070T>A (p.Val357Asp)
c.1226T>A (p.Val409Asp)
8g.115604723C>ACA372067826TRPS1c.1246G>T (p.Val416Phe)
c.1207G>T (p.Val403Phe)
c.1219G>T (p.Val407Phe)
c.1069G>T (p.Val357Phe)
c.1225G>T (p.Val409Phe)
8g.115604723C=CA1812961406TRPS1c.1246G= (p.Val416=)
c.1207G= (p.Val403=)
c.1219G= (p.Val407=)
c.1069G= (p.Val357=)
c.1225G= (p.Val409=)
8g.115604723C>GCA372067827TRPS1c.1246G>C (p.Val416Leu)
c.1207G>C (p.Val403Leu)
c.1219G>C (p.Val407Leu)
c.1069G>C (p.Val357Leu)
c.1225G>C (p.Val409Leu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.115604723C>TCA372067828TRPS1c.1246G>A (p.Val416Ile)
c.1207G>A (p.Val403Ile)
c.1219G>A (p.Val407Ile)
c.1069G>A (p.Val357Ile)
c.1225G>A (p.Val409Ile)
8g.115604724T>ACA462659280TRPS1c.1245A>T (p.Thr415=)
c.1206A>T (p.Thr402=)
c.1218A>T (p.Thr406=)
c.1068A>T (p.Thr356=)
c.1224A>T (p.Thr408=)
8g.115604724T>CCA462659281TRPS1c.1245A>G (p.Thr415=)
c.1206A>G (p.Thr402=)
c.1218A>G (p.Thr406=)
c.1068A>G (p.Thr356=)
c.1224A>G (p.Thr408=)
8g.115604724T>GCA462659282TRPS1c.1245A>C (p.Thr415=)
c.1206A>C (p.Thr402=)
c.1218A>C (p.Thr406=)
c.1068A>C (p.Thr356=)
c.1224A>C (p.Thr408=)
8g.115604725G>ACA372067829TRPS1c.1244C>T (p.Thr415Ile)
c.1205C>T (p.Thr402Ile)
c.1217C>T (p.Thr406Ile)
c.1067C>T (p.Thr356Ile)
c.1223C>T (p.Thr408Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.115604725G>CCA372067830TRPS1c.1244C>G (p.Thr415Arg)
c.1205C>G (p.Thr402Arg)
c.1217C>G (p.Thr406Arg)
c.1067C>G (p.Thr356Arg)
c.1223C>G (p.Thr408Arg)
8g.115604725G=CA1812961407TRPS1c.1244C= (p.Thr415=)
c.1205C= (p.Thr402=)
c.1217C= (p.Thr406=)
c.1067C= (p.Thr356=)
c.1223C= (p.Thr408=)
8g.115604725G>TCA372067831TRPS1c.1244C>A (p.Thr415Lys)
c.1205C>A (p.Thr402Lys)
c.1217C>A (p.Thr406Lys)
c.1067C>A (p.Thr356Lys)
c.1223C>A (p.Thr408Lys)
8g.115604726T>ACA372067833TRPS1c.1243A>T (p.Thr415Ser)
c.1204A>T (p.Thr402Ser)
c.1216A>T (p.Thr406Ser)
c.1066A>T (p.Thr356Ser)
c.1222A>T (p.Thr408Ser)
8g.115604726T>CCA372067834TRPS1c.1243A>G (p.Thr415Ala)
c.1204A>G (p.Thr402Ala)
c.1216A>G (p.Thr406Ala)
c.1066A>G (p.Thr356Ala)
c.1222A>G (p.Thr408Ala)
8g.115604726T>GCA372067832TRPS1c.1243A>C (p.Thr415Pro)
c.1204A>C (p.Thr402Pro)
c.1216A>C (p.Thr406Pro)
c.1066A>C (p.Thr356Pro)
c.1222A>C (p.Thr408Pro)
8g.115604727T>ACA462659284TRPS1c.1242A>T (p.Ile414=)
c.1203A>T (p.Ile401=)
c.1215A>T (p.Ile405=)
c.1065A>T (p.Ile355=)
c.1221A>T (p.Ile407=)
8g.115604727T>CCA372067835TRPS1c.1242A>G (p.Ile414Met)
c.1203A>G (p.Ile401Met)
c.1215A>G (p.Ile405Met)
c.1065A>G (p.Ile355Met)
c.1221A>G (p.Ile407Met)
8g.115604727T>GCA462659287TRPS1c.1242A>C (p.Ile414=)
c.1203A>C (p.Ile401=)
c.1215A>C (p.Ile405=)
c.1065A>C (p.Ile355=)
c.1221A>C (p.Ile407=)
8g.115604728A>CCA372067836TRPS1c.1241T>G (p.Ile414Arg)
c.1202T>G (p.Ile401Arg)
c.1214T>G (p.Ile405Arg)
c.1064T>G (p.Ile355Arg)
c.1220T>G (p.Ile407Arg)
8g.115604728A>GCA372067837TRPS1c.1241T>C (p.Ile414Thr)
c.1202T>C (p.Ile401Thr)
c.1214T>C (p.Ile405Thr)
c.1064T>C (p.Ile355Thr)
c.1220T>C (p.Ile407Thr)
8g.115604728A>TCA372067838TRPS1c.1241T>A (p.Ile414Lys)
c.1202T>A (p.Ile401Lys)
c.1214T>A (p.Ile405Lys)
c.1064T>A (p.Ile355Lys)
c.1220T>A (p.Ile407Lys)
8g.115604729T>ACA372067841TRPS1c.1240A>T (p.Ile414Leu)
c.1201A>T (p.Ile401Leu)
c.1213A>T (p.Ile405Leu)
c.1063A>T (p.Ile355Leu)
c.1219A>T (p.Ile407Leu)
 gnomAD v4
8g.115604729T>CCA372067840TRPS1c.1240A>G (p.Ile414Val)
c.1201A>G (p.Ile401Val)
c.1213A>G (p.Ile405Val)
c.1063A>G (p.Ile355Val)
c.1219A>G (p.Ile407Val)
 dbSNP gnomAD v4
8g.115604729T>GCA372067839TRPS1c.1240A>C (p.Ile414Leu)
c.1201A>C (p.Ile401Leu)
c.1213A>C (p.Ile405Leu)
c.1063A>C (p.Ile355Leu)
c.1219A>C (p.Ile407Leu)
8g.115604729T=CA1812961408TRPS1c.1240A= (p.Ile414=)
c.1201A= (p.Ile401=)
c.1213A= (p.Ile405=)
c.1063A= (p.Ile355=)
c.1219A= (p.Ile407=)
8g.115604730C>ACA372067842TRPS1c.1239G>T (p.Lys413Asn)
c.1200G>T (p.Lys400Asn)
c.1212G>T (p.Lys404Asn)
c.1062G>T (p.Lys354Asn)
c.1218G>T (p.Lys406Asn)
8g.115604730C=CA1812961409TRPS1c.1239G= (p.Lys413=)
c.1200G= (p.Lys400=)
c.1212G= (p.Lys404=)
c.1062G= (p.Lys354=)
c.1218G= (p.Lys406=)
8g.115604730C>GCA372067843TRPS1c.1239G>C (p.Lys413Asn)
c.1200G>C (p.Lys400Asn)
c.1212G>C (p.Lys404Asn)
c.1062G>C (p.Lys354Asn)
c.1218G>C (p.Lys406Asn)
8g.115604730C>TCA184615088TRPS1c.1239G>A (p.Lys413=)
c.1200G>A (p.Lys400=)
c.1212G>A (p.Lys404=)
c.1062G>A (p.Lys354=)
c.1218G>A (p.Lys406=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.115604731T>ACA372067844TRPS1c.1238A>T (p.Lys413Met)
c.1199A>T (p.Lys400Met)
c.1211A>T (p.Lys404Met)
c.1061A>T (p.Lys354Met)
c.1217A>T (p.Lys406Met)
8g.115604731T>CCA372067845TRPS1c.1238A>G (p.Lys413Arg)
c.1199A>G (p.Lys400Arg)
c.1211A>G (p.Lys404Arg)
c.1061A>G (p.Lys354Arg)
c.1217A>G (p.Lys406Arg)
8g.115604731T>GCA372067846TRPS1c.1238A>C (p.Lys413Thr)
c.1199A>C (p.Lys400Thr)
c.1211A>C (p.Lys404Thr)
c.1061A>C (p.Lys354Thr)
c.1217A>C (p.Lys406Thr)
8g.115604732T>ACA372067849TRPS1c.1237A>T (p.Lys413Ter)
c.1198A>T (p.Lys400Ter)
c.1210A>T (p.Lys404Ter)
c.1060A>T (p.Lys354Ter)
c.1216A>T (p.Lys406Ter)
8g.115604732T>CCA372067848TRPS1c.1237A>G (p.Lys413Glu)
c.1198A>G (p.Lys400Glu)
c.1210A>G (p.Lys404Glu)
c.1060A>G (p.Lys354Glu)
c.1216A>G (p.Lys406Glu)
8g.115604732T>GCA372067847TRPS1c.1237A>C (p.Lys413Gln)
c.1198A>C (p.Lys400Gln)
c.1210A>C (p.Lys404Gln)
c.1060A>C (p.Lys354Gln)
c.1216A>C (p.Lys406Gln)
8g.115604733G>ACA462659299TRPS1c.1236C>T (p.Asp412=)
c.1197C>T (p.Asp399=)
c.1209C>T (p.Asp403=)
c.1059C>T (p.Asp353=)
c.1215C>T (p.Asp405=)
8g.115604733G>CCA372067850TRPS1c.1236C>G (p.Asp412Glu)
c.1197C>G (p.Asp399Glu)
c.1209C>G (p.Asp403Glu)
c.1059C>G (p.Asp353Glu)
c.1215C>G (p.Asp405Glu)
 dbSNP
8g.115604733G=CA1812961410TRPS1c.1236C= (p.Asp412=)
c.1197C= (p.Asp399=)
c.1209C= (p.Asp403=)
c.1059C= (p.Asp353=)
c.1215C= (p.Asp405=)
8g.115604733G>TCA372067851TRPS1c.1236C>A (p.Asp412Glu)
c.1197C>A (p.Asp399Glu)
c.1209C>A (p.Asp403Glu)
c.1059C>A (p.Asp353Glu)
c.1215C>A (p.Asp405Glu)
8g.115604734T>ACA372067852TRPS1c.1235A>T (p.Asp412Val)
c.1196A>T (p.Asp399Val)
c.1208A>T (p.Asp403Val)
c.1058A>T (p.Asp353Val)
c.1214A>T (p.Asp405Val)
 dbSNP
8g.115604734T>CCA372067853TRPS1c.1235A>G (p.Asp412Gly)
c.1196A>G (p.Asp399Gly)
c.1208A>G (p.Asp403Gly)
c.1058A>G (p.Asp353Gly)
c.1214A>G (p.Asp405Gly)
 dbSNP gnomAD v4
8g.115604734T>GCA372067854TRPS1c.1235A>C (p.Asp412Ala)
c.1196A>C (p.Asp399Ala)
c.1208A>C (p.Asp403Ala)
c.1058A>C (p.Asp353Ala)
c.1214A>C (p.Asp405Ala)
8g.115604734T=CA1812961411TRPS1c.1235A= (p.Asp412=)
c.1196A= (p.Asp399=)
c.1208A= (p.Asp403=)
c.1058A= (p.Asp353=)
c.1214A= (p.Asp405=)
8g.115604735C>ACA372067855TRPS1c.1234G>T (p.Asp412Tyr)
c.1195G>T (p.Asp399Tyr)
c.1207G>T (p.Asp403Tyr)
c.1057G>T (p.Asp353Tyr)
c.1213G>T (p.Asp405Tyr)
8g.115604735C>GCA372067856TRPS1c.1234G>C (p.Asp412His)
c.1195G>C (p.Asp399His)
c.1207G>C (p.Asp403His)
c.1057G>C (p.Asp353His)
c.1213G>C (p.Asp405His)
8g.115604735C>TCA372067857TRPS1c.1234G>A (p.Asp412Asn)
c.1195G>A (p.Asp399Asn)
c.1207G>A (p.Asp403Asn)
c.1057G>A (p.Asp353Asn)
c.1213G>A (p.Asp405Asn)
8g.115604736C>ACA372067858TRPS1c.1233G>T (p.Gln411His)
c.1194G>T (p.Gln398His)
c.1206G>T (p.Gln402His)
c.1056G>T (p.Gln352His)
c.1212G>T (p.Gln404His)
8g.115604736C=CA1812961412TRPS1c.1233G= (p.Gln411=)
c.1194G= (p.Gln398=)
c.1206G= (p.Gln402=)
c.1056G= (p.Gln352=)
c.1212G= (p.Gln404=)
8g.115604736C>GCA372067859TRPS1c.1233G>C (p.Gln411His)
c.1194G>C (p.Gln398His)
c.1206G>C (p.Gln402His)
c.1056G>C (p.Gln352His)
c.1212G>C (p.Gln404His)
8g.115604736C>TCA462659310TRPS1c.1233G>A (p.Gln411=)
c.1194G>A (p.Gln398=)
c.1206G>A (p.Gln402=)
c.1056G>A (p.Gln352=)
c.1212G>A (p.Gln404=)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
8g.115604737T>ACA372067860TRPS1c.1232A>T (p.Gln411Leu)
c.1193A>T (p.Gln398Leu)
c.1205A>T (p.Gln402Leu)
c.1055A>T (p.Gln352Leu)
c.1211A>T (p.Gln404Leu)
8g.115604737T>CCA372067861TRPS1c.1232A>G (p.Gln411Arg)
c.1193A>G (p.Gln398Arg)
c.1205A>G (p.Gln402Arg)
c.1055A>G (p.Gln352Arg)
c.1211A>G (p.Gln404Arg)
 gnomAD v4
8g.115604737T>GCA372067862TRPS1c.1232A>C (p.Gln411Pro)
c.1193A>C (p.Gln398Pro)
c.1205A>C (p.Gln402Pro)
c.1055A>C (p.Gln352Pro)
c.1211A>C (p.Gln404Pro)
8g.115604737T=CA1812961413TRPS1c.1232A= (p.Gln411=)
c.1193A= (p.Gln398=)
c.1205A= (p.Gln402=)
c.1055A= (p.Gln352=)
c.1211A= (p.Gln404=)
8g.115604738G>ACA372067865TRPS1c.1231C>T (p.Gln411Ter)
c.1192C>T (p.Gln398Ter)
c.1204C>T (p.Gln402Ter)
c.1054C>T (p.Gln352Ter)
c.1210C>T (p.Gln404Ter)
8g.115604738G>CCA372067864TRPS1c.1231C>G (p.Gln411Glu)
c.1192C>G (p.Gln398Glu)
c.1204C>G (p.Gln402Glu)
c.1054C>G (p.Gln352Glu)
c.1210C>G (p.Gln404Glu)
8g.115604738G>TCA372067863TRPS1c.1231C>A (p.Gln411Lys)
c.1192C>A (p.Gln398Lys)
c.1204C>A (p.Gln402Lys)
c.1054C>A (p.Gln352Lys)
c.1210C>A (p.Gln404Lys)
8g.115604738dupCA645509422TRPS1c.1231dup (p.Gln411ProfsTer11)
c.1192dup (p.Gln398ProfsTer11)
c.1204dup (p.Gln402ProfsTer11)
c.1054dup (p.Gln352ProfsTer11)
c.1210dup (p.Gln404ProfsTer11)
 ClinVar dbSNP
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

Number of alleles fetched