Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.80202149A=CA1471292386PRDM8c.687A= (p.Lys229=)
c.690A= (p.Lys230=)
c.1530A= (p.Lys510=)
c.1527A= (p.Lys509=)
c.1389A= (p.Lys463=)
c.1242A= (p.Lys414=)
c.1104A= (p.Lys368=)
c.1083A= (p.Lys361=)
c.1239A= (p.Lys413=)
c.1326A= (p.Lys442=)
4g.80202149A>CCA357394877PRDM8c.687A>C (p.Lys229Asn)
c.690A>C (p.Lys230Asn)
c.1530A>C (p.Lys510Asn)
c.1527A>C (p.Lys509Asn)
c.1389A>C (p.Lys463Asn)
c.1242A>C (p.Lys414Asn)
c.1104A>C (p.Lys368Asn)
c.1083A>C (p.Lys361Asn)
c.1239A>C (p.Lys413Asn)
c.1326A>C (p.Lys442Asn)
 ClinVar dbSNP gnomAD v4
4g.80202149A>GCA440226555PRDM8c.687A>G (p.Lys229=)
c.690A>G (p.Lys230=)
c.1530A>G (p.Lys510=)
c.1527A>G (p.Lys509=)
c.1389A>G (p.Lys463=)
c.1242A>G (p.Lys414=)
c.1104A>G (p.Lys368=)
c.1083A>G (p.Lys361=)
c.1239A>G (p.Lys413=)
c.1326A>G (p.Lys442=)
 ClinVar
4g.80202149A>TCA357394880PRDM8c.687A>T (p.Lys229Asn)
c.690A>T (p.Lys230Asn)
c.1530A>T (p.Lys510Asn)
c.1527A>T (p.Lys509Asn)
c.1389A>T (p.Lys463Asn)
c.1242A>T (p.Lys414Asn)
c.1104A>T (p.Lys368Asn)
c.1083A>T (p.Lys361Asn)
c.1239A>T (p.Lys413Asn)
c.1326A>T (p.Lys442Asn)
4g.80202150G>ACA357394884PRDM8c.688G>A (p.Ala230Thr)
c.691G>A (p.Ala231Thr)
c.1531G>A (p.Ala511Thr)
c.1528G>A (p.Ala510Thr)
c.1390G>A (p.Ala464Thr)
c.1243G>A (p.Ala415Thr)
c.1105G>A (p.Ala369Thr)
c.1084G>A (p.Ala362Thr)
c.1240G>A (p.Ala414Thr)
c.1327G>A (p.Ala443Thr)
4g.80202150G>CCA357394883PRDM8c.688G>C (p.Ala230Pro)
c.691G>C (p.Ala231Pro)
c.1531G>C (p.Ala511Pro)
c.1528G>C (p.Ala510Pro)
c.1390G>C (p.Ala464Pro)
c.1243G>C (p.Ala415Pro)
c.1105G>C (p.Ala369Pro)
c.1084G>C (p.Ala362Pro)
c.1240G>C (p.Ala414Pro)
c.1327G>C (p.Ala443Pro)
4g.80202150G>TCA357394882PRDM8c.688G>T (p.Ala230Ser)
c.691G>T (p.Ala231Ser)
c.1531G>T (p.Ala511Ser)
c.1528G>T (p.Ala510Ser)
c.1390G>T (p.Ala464Ser)
c.1243G>T (p.Ala415Ser)
c.1105G>T (p.Ala369Ser)
c.1084G>T (p.Ala362Ser)
c.1240G>T (p.Ala414Ser)
c.1327G>T (p.Ala443Ser)
4g.80202151C>ACA357394885PRDM8c.689C>A (p.Ala230Asp)
c.692C>A (p.Ala231Asp)
c.1532C>A (p.Ala511Asp)
c.1529C>A (p.Ala510Asp)
c.1391C>A (p.Ala464Asp)
c.1244C>A (p.Ala415Asp)
c.1106C>A (p.Ala369Asp)
c.1085C>A (p.Ala362Asp)
c.1241C>A (p.Ala414Asp)
c.1328C>A (p.Ala443Asp)
4g.80202151C=CA1471292398PRDM8c.689C= (p.Ala230=)
c.692C= (p.Ala231=)
c.1532C= (p.Ala511=)
c.1529C= (p.Ala510=)
c.1391C= (p.Ala464=)
c.1244C= (p.Ala415=)
c.1106C= (p.Ala369=)
c.1085C= (p.Ala362=)
c.1241C= (p.Ala414=)
c.1328C= (p.Ala443=)
4g.80202151C>GCA100000162PRDM8c.689C>G (p.Ala230Gly)
c.692C>G (p.Ala231Gly)
c.1532C>G (p.Ala511Gly)
c.1529C>G (p.Ala510Gly)
c.1391C>G (p.Ala464Gly)
c.1244C>G (p.Ala415Gly)
c.1106C>G (p.Ala369Gly)
c.1085C>G (p.Ala362Gly)
c.1241C>G (p.Ala414Gly)
c.1328C>G (p.Ala443Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.80202151C>TCA357394886PRDM8c.689C>T (p.Ala230Val)
c.692C>T (p.Ala231Val)
c.1532C>T (p.Ala511Val)
c.1529C>T (p.Ala510Val)
c.1391C>T (p.Ala464Val)
c.1244C>T (p.Ala415Val)
c.1106C>T (p.Ala369Val)
c.1085C>T (p.Ala362Val)
c.1241C>T (p.Ala414Val)
c.1328C>T (p.Ala443Val)
 dbSNP
4g.80202152C>ACA440226558PRDM8c.690C>A (p.Ala230=)
c.693C>A (p.Ala231=)
c.1533C>A (p.Ala511=)
c.1530C>A (p.Ala510=)
c.1392C>A (p.Ala464=)
c.1245C>A (p.Ala415=)
c.1107C>A (p.Ala369=)
c.1086C>A (p.Ala362=)
c.1242C>A (p.Ala414=)
c.1329C>A (p.Ala443=)
4g.80202152C>GCA440226559PRDM8c.690C>G (p.Ala230=)
c.693C>G (p.Ala231=)
c.1533C>G (p.Ala511=)
c.1530C>G (p.Ala510=)
c.1392C>G (p.Ala464=)
c.1245C>G (p.Ala415=)
c.1107C>G (p.Ala369=)
c.1086C>G (p.Ala362=)
c.1242C>G (p.Ala414=)
c.1329C>G (p.Ala443=)
4g.80202152C>TCA440226560PRDM8c.690C>T (p.Ala230=)
c.693C>T (p.Ala231=)
c.1533C>T (p.Ala511=)
c.1530C>T (p.Ala510=)
c.1392C>T (p.Ala464=)
c.1245C>T (p.Ala415=)
c.1107C>T (p.Ala369=)
c.1086C>T (p.Ala362=)
c.1242C>T (p.Ala414=)
c.1329C>T (p.Ala443=)
 gnomAD v4
4g.80202153G>ACA357394887PRDM8c.691G>A (p.Gly231Ser)
c.694G>A (p.Gly232Ser)
c.1534G>A (p.Gly512Ser)
c.1531G>A (p.Gly511Ser)
c.1393G>A (p.Gly465Ser)
c.1246G>A (p.Gly416Ser)
c.1108G>A (p.Gly370Ser)
c.1087G>A (p.Gly363Ser)
c.1243G>A (p.Gly415Ser)
c.1330G>A (p.Gly444Ser)
 dbSNP
4g.80202153G>CCA357394888PRDM8c.691G>C (p.Gly231Arg)
c.694G>C (p.Gly232Arg)
c.1534G>C (p.Gly512Arg)
c.1531G>C (p.Gly511Arg)
c.1393G>C (p.Gly465Arg)
c.1246G>C (p.Gly416Arg)
c.1108G>C (p.Gly370Arg)
c.1087G>C (p.Gly363Arg)
c.1243G>C (p.Gly415Arg)
c.1330G>C (p.Gly444Arg)
 gnomAD v4
4g.80202153G=CA1471292408PRDM8c.691G= (p.Gly231=)
c.694G= (p.Gly232=)
c.1534G= (p.Gly512=)
c.1531G= (p.Gly511=)
c.1393G= (p.Gly465=)
c.1246G= (p.Gly416=)
c.1108G= (p.Gly370=)
c.1087G= (p.Gly363=)
c.1243G= (p.Gly415=)
c.1330G= (p.Gly444=)
4g.80202153G>TCA357394889PRDM8c.691G>T (p.Gly231Cys)
c.694G>T (p.Gly232Cys)
c.1534G>T (p.Gly512Cys)
c.1531G>T (p.Gly511Cys)
c.1393G>T (p.Gly465Cys)
c.1246G>T (p.Gly416Cys)
c.1108G>T (p.Gly370Cys)
c.1087G>T (p.Gly363Cys)
c.1243G>T (p.Gly415Cys)
c.1330G>T (p.Gly444Cys)
4g.80202154G>ACA357394890PRDM8c.692G>A (p.Gly231Asp)
c.695G>A (p.Gly232Asp)
c.1535G>A (p.Gly512Asp)
c.1532G>A (p.Gly511Asp)
c.1394G>A (p.Gly465Asp)
c.1247G>A (p.Gly416Asp)
c.1109G>A (p.Gly370Asp)
c.1088G>A (p.Gly363Asp)
c.1244G>A (p.Gly415Asp)
c.1331G>A (p.Gly444Asp)
 gnomAD v4
4g.80202154G>CCA357394893PRDM8c.692G>C (p.Gly231Ala)
c.695G>C (p.Gly232Ala)
c.1535G>C (p.Gly512Ala)
c.1532G>C (p.Gly511Ala)
c.1394G>C (p.Gly465Ala)
c.1247G>C (p.Gly416Ala)
c.1109G>C (p.Gly370Ala)
c.1088G>C (p.Gly363Ala)
c.1244G>C (p.Gly415Ala)
c.1331G>C (p.Gly444Ala)
4g.80202154G>TCA357394891PRDM8c.692G>T (p.Gly231Val)
c.695G>T (p.Gly232Val)
c.1535G>T (p.Gly512Val)
c.1532G>T (p.Gly511Val)
c.1394G>T (p.Gly465Val)
c.1247G>T (p.Gly416Val)
c.1109G>T (p.Gly370Val)
c.1088G>T (p.Gly363Val)
c.1244G>T (p.Gly415Val)
c.1331G>T (p.Gly444Val)
4g.80202155C>ACA440226564PRDM8c.693C>A (p.Gly231=)
c.696C>A (p.Gly232=)
c.1536C>A (p.Gly512=)
c.1533C>A (p.Gly511=)
c.1395C>A (p.Gly465=)
c.1248C>A (p.Gly416=)
c.1110C>A (p.Gly370=)
c.1089C>A (p.Gly363=)
c.1245C>A (p.Gly415=)
c.1332C>A (p.Gly444=)
4g.80202155C=CA1471292412PRDM8c.693C= (p.Gly231=)
c.696C= (p.Gly232=)
c.1536C= (p.Gly512=)
c.1533C= (p.Gly511=)
c.1395C= (p.Gly465=)
c.1248C= (p.Gly416=)
c.1110C= (p.Gly370=)
c.1089C= (p.Gly363=)
c.1245C= (p.Gly415=)
c.1332C= (p.Gly444=)
4g.80202155C>GCA2982309PRDM8c.693C>G (p.Gly231=)
c.696C>G (p.Gly232=)
c.1536C>G (p.Gly512=)
c.1533C>G (p.Gly511=)
c.1395C>G (p.Gly465=)
c.1248C>G (p.Gly416=)
c.1110C>G (p.Gly370=)
c.1089C>G (p.Gly363=)
c.1245C>G (p.Gly415=)
c.1332C>G (p.Gly444=)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.80202155C>TCA440226565PRDM8c.693C>T (p.Gly231=)
c.696C>T (p.Gly232=)
c.1536C>T (p.Gly512=)
c.1533C>T (p.Gly511=)
c.1395C>T (p.Gly465=)
c.1248C>T (p.Gly416=)
c.1110C>T (p.Gly370=)
c.1089C>T (p.Gly363=)
c.1245C>T (p.Gly415=)
c.1332C>T (p.Gly444=)
 dbSNP COSMIC
4g.80202156C>ACA357394897PRDM8c.694C>A (p.Pro232Thr)
c.697C>A (p.Pro233Thr)
c.1537C>A (p.Pro513Thr)
c.1534C>A (p.Pro512Thr)
c.1396C>A (p.Pro466Thr)
c.1249C>A (p.Pro417Thr)
c.1111C>A (p.Pro371Thr)
c.1090C>A (p.Pro364Thr)
c.1246C>A (p.Pro416Thr)
c.1333C>A (p.Pro445Thr)
4g.80202156C=CA1471292415PRDM8c.694C= (p.Pro232=)
c.697C= (p.Pro233=)
c.1537C= (p.Pro513=)
c.1534C= (p.Pro512=)
c.1396C= (p.Pro466=)
c.1249C= (p.Pro417=)
c.1111C= (p.Pro371=)
c.1090C= (p.Pro364=)
c.1246C= (p.Pro416=)
c.1333C= (p.Pro445=)
4g.80202156C>GCA357394899PRDM8c.694C>G (p.Pro232Ala)
c.697C>G (p.Pro233Ala)
c.1537C>G (p.Pro513Ala)
c.1534C>G (p.Pro512Ala)
c.1396C>G (p.Pro466Ala)
c.1249C>G (p.Pro417Ala)
c.1111C>G (p.Pro371Ala)
c.1090C>G (p.Pro364Ala)
c.1246C>G (p.Pro416Ala)
c.1333C>G (p.Pro445Ala)
4g.80202156C>TCA357394901PRDM8c.694C>T (p.Pro232Ser)
c.697C>T (p.Pro233Ser)
c.1537C>T (p.Pro513Ser)
c.1534C>T (p.Pro512Ser)
c.1396C>T (p.Pro466Ser)
c.1249C>T (p.Pro417Ser)
c.1111C>T (p.Pro371Ser)
c.1090C>T (p.Pro364Ser)
c.1246C>T (p.Pro416Ser)
c.1333C>T (p.Pro445Ser)
 dbSNP gnomAD v2 gnomAD v4
4g.80202157C>ACA357394902PRDM8c.695C>A (p.Pro232His)
c.698C>A (p.Pro233His)
c.1538C>A (p.Pro513His)
c.1535C>A (p.Pro512His)
c.1397C>A (p.Pro466His)
c.1250C>A (p.Pro417His)
c.1112C>A (p.Pro371His)
c.1091C>A (p.Pro364His)
c.1247C>A (p.Pro416His)
c.1334C>A (p.Pro445His)
4g.80202157C=CA1471292420PRDM8c.695C= (p.Pro232=)
c.698C= (p.Pro233=)
c.1538C= (p.Pro513=)
c.1535C= (p.Pro512=)
c.1397C= (p.Pro466=)
c.1250C= (p.Pro417=)
c.1112C= (p.Pro371=)
c.1091C= (p.Pro364=)
c.1247C= (p.Pro416=)
c.1334C= (p.Pro445=)
4g.80202157C>GCA357394903PRDM8c.695C>G (p.Pro232Arg)
c.698C>G (p.Pro233Arg)
c.1538C>G (p.Pro513Arg)
c.1535C>G (p.Pro512Arg)
c.1397C>G (p.Pro466Arg)
c.1250C>G (p.Pro417Arg)
c.1112C>G (p.Pro371Arg)
c.1091C>G (p.Pro364Arg)
c.1247C>G (p.Pro416Arg)
c.1334C>G (p.Pro445Arg)
 dbSNP gnomAD v3 gnomAD v4
4g.80202157C>TCA357394905PRDM8c.695C>T (p.Pro232Leu)
c.698C>T (p.Pro233Leu)
c.1538C>T (p.Pro513Leu)
c.1535C>T (p.Pro512Leu)
c.1397C>T (p.Pro466Leu)
c.1250C>T (p.Pro417Leu)
c.1112C>T (p.Pro371Leu)
c.1091C>T (p.Pro364Leu)
c.1247C>T (p.Pro416Leu)
c.1334C>T (p.Pro445Leu)
 gnomAD v4
4g.80202158C>ACA440226567PRDM8c.696C>A (p.Pro232=)
c.699C>A (p.Pro233=)
c.1539C>A (p.Pro513=)
c.1536C>A (p.Pro512=)
c.1398C>A (p.Pro466=)
c.1251C>A (p.Pro417=)
c.1113C>A (p.Pro371=)
c.1092C>A (p.Pro364=)
c.1248C>A (p.Pro416=)
c.1335C>A (p.Pro445=)
4g.80202158C=CA1471292424PRDM8c.696C= (p.Pro232=)
c.699C= (p.Pro233=)
c.1539C= (p.Pro513=)
c.1536C= (p.Pro512=)
c.1398C= (p.Pro466=)
c.1251C= (p.Pro417=)
c.1113C= (p.Pro371=)
c.1092C= (p.Pro364=)
c.1248C= (p.Pro416=)
c.1335C= (p.Pro445=)
4g.80202158C>GCA440226568PRDM8c.696C>G (p.Pro232=)
c.699C>G (p.Pro233=)
c.1539C>G (p.Pro513=)
c.1536C>G (p.Pro512=)
c.1398C>G (p.Pro466=)
c.1251C>G (p.Pro417=)
c.1113C>G (p.Pro371=)
c.1092C>G (p.Pro364=)
c.1248C>G (p.Pro416=)
c.1335C>G (p.Pro445=)
 gnomAD v4
4g.80202158C>TCA440226569PRDM8c.696C>T (p.Pro232=)
c.699C>T (p.Pro233=)
c.1539C>T (p.Pro513=)
c.1536C>T (p.Pro512=)
c.1398C>T (p.Pro466=)
c.1251C>T (p.Pro417=)
c.1113C>T (p.Pro371=)
c.1092C>T (p.Pro364=)
c.1248C>T (p.Pro416=)
c.1335C>T (p.Pro445=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.80202159C>ACA357394907PRDM8c.697C>A (p.Leu233Ile)
c.700C>A (p.Leu234Ile)
c.1540C>A (p.Leu514Ile)
c.1537C>A (p.Leu513Ile)
c.1399C>A (p.Leu467Ile)
c.1252C>A (p.Leu418Ile)
c.1114C>A (p.Leu372Ile)
c.1093C>A (p.Leu365Ile)
c.1249C>A (p.Leu417Ile)
c.1336C>A (p.Leu446Ile)
 gnomAD v4
4g.80202159C=CA1471292428PRDM8c.697C= (p.Leu233=)
c.700C= (p.Leu234=)
c.1540C= (p.Leu514=)
c.1537C= (p.Leu513=)
c.1399C= (p.Leu467=)
c.1252C= (p.Leu418=)
c.1114C= (p.Leu372=)
c.1093C= (p.Leu365=)
c.1249C= (p.Leu417=)
c.1336C= (p.Leu446=)
4g.80202159C>GCA2982310PRDM8c.697C>G (p.Leu233Val)
c.700C>G (p.Leu234Val)
c.1540C>G (p.Leu514Val)
c.1537C>G (p.Leu513Val)
c.1399C>G (p.Leu467Val)
c.1252C>G (p.Leu418Val)
c.1114C>G (p.Leu372Val)
c.1093C>G (p.Leu365Val)
c.1249C>G (p.Leu417Val)
c.1336C>G (p.Leu446Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.80202159C>TCA357394913PRDM8c.697C>T (p.Leu233Phe)
c.700C>T (p.Leu234Phe)
c.1540C>T (p.Leu514Phe)
c.1537C>T (p.Leu513Phe)
c.1399C>T (p.Leu467Phe)
c.1252C>T (p.Leu418Phe)
c.1114C>T (p.Leu372Phe)
c.1093C>T (p.Leu365Phe)
c.1249C>T (p.Leu417Phe)
c.1336C>T (p.Leu446Phe)
 gnomAD v4
4g.80202160T>ACA357394915PRDM8c.698T>A (p.Leu233His)
c.701T>A (p.Leu234His)
c.1541T>A (p.Leu514His)
c.1538T>A (p.Leu513His)
c.1400T>A (p.Leu467His)
c.1253T>A (p.Leu418His)
c.1115T>A (p.Leu372His)
c.1094T>A (p.Leu365His)
c.1250T>A (p.Leu417His)
c.1337T>A (p.Leu446His)
4g.80202160T>CCA100000193PRDM8c.698T>C (p.Leu233Pro)
c.701T>C (p.Leu234Pro)
c.1541T>C (p.Leu514Pro)
c.1538T>C (p.Leu513Pro)
c.1400T>C (p.Leu467Pro)
c.1253T>C (p.Leu418Pro)
c.1115T>C (p.Leu372Pro)
c.1094T>C (p.Leu365Pro)
c.1250T>C (p.Leu417Pro)
c.1337T>C (p.Leu446Pro)
 dbSNP
4g.80202160T>GCA357394917PRDM8c.698T>G (p.Leu233Arg)
c.701T>G (p.Leu234Arg)
c.1541T>G (p.Leu514Arg)
c.1538T>G (p.Leu513Arg)
c.1400T>G (p.Leu467Arg)
c.1253T>G (p.Leu418Arg)
c.1115T>G (p.Leu372Arg)
c.1094T>G (p.Leu365Arg)
c.1250T>G (p.Leu417Arg)
c.1337T>G (p.Leu446Arg)
4g.80202160T=CA1471292430PRDM8c.698T= (p.Leu233=)
c.701T= (p.Leu234=)
c.1541T= (p.Leu514=)
c.1538T= (p.Leu513=)
c.1400T= (p.Leu467=)
c.1253T= (p.Leu418=)
c.1115T= (p.Leu372=)
c.1094T= (p.Leu365=)
c.1250T= (p.Leu417=)
c.1337T= (p.Leu446=)
4g.80202161C>ACA2982311PRDM8c.699C>A (p.Leu233=)
c.702C>A (p.Leu234=)
c.1542C>A (p.Leu514=)
c.1539C>A (p.Leu513=)
c.1401C>A (p.Leu467=)
c.1254C>A (p.Leu418=)
c.1116C>A (p.Leu372=)
c.1095C>A (p.Leu365=)
c.1251C>A (p.Leu417=)
c.1338C>A (p.Leu446=)
 dbSNP ExAC
4g.80202161C=CA1471292435PRDM8c.699C= (p.Leu233=)
c.702C= (p.Leu234=)
c.1542C= (p.Leu514=)
c.1539C= (p.Leu513=)
c.1401C= (p.Leu467=)
c.1254C= (p.Leu418=)
c.1116C= (p.Leu372=)
c.1095C= (p.Leu365=)
c.1251C= (p.Leu417=)
c.1338C= (p.Leu446=)
4g.80202161C>GCA440226573PRDM8c.699C>G (p.Leu233=)
c.702C>G (p.Leu234=)
c.1542C>G (p.Leu514=)
c.1539C>G (p.Leu513=)
c.1401C>G (p.Leu467=)
c.1254C>G (p.Leu418=)
c.1116C>G (p.Leu372=)
c.1095C>G (p.Leu365=)
c.1251C>G (p.Leu417=)
c.1338C>G (p.Leu446=)
4g.80202161C>TCA440226574PRDM8c.699C>T (p.Leu233=)
c.702C>T (p.Leu234=)
c.1542C>T (p.Leu514=)
c.1539C>T (p.Leu513=)
c.1401C>T (p.Leu467=)
c.1254C>T (p.Leu418=)
c.1116C>T (p.Leu372=)
c.1095C>T (p.Leu365=)
c.1251C>T (p.Leu417=)
c.1338C>T (p.Leu446=)
4g.80202165_80202167dupCA798914065PRDM8c.703_705dup (p.His235_Tyr236insHis)
c.706_708dup (p.His236_Tyr237insHis)
c.1546_1548dup (p.His516_Tyr517insHis)
c.1543_1545dup (p.His515_Tyr516insHis)
c.1405_1407dup (p.His469_Tyr470insHis)
c.1258_1260dup (p.His420_Tyr421insHis)
c.1120_1122dup (p.His374_Tyr375insHis)
c.1099_1101dup (p.His367_Tyr368insHis)
c.1255_1257dup (p.His419_Tyr420insHis)
c.1342_1344dup (p.His448_Tyr449insHis)
 dbSNP gnomAD v4
4g.80202162C>ACA357394921PRDM8c.700C>A (p.His234Asn)
c.703C>A (p.His235Asn)
c.1543C>A (p.His515Asn)
c.1540C>A (p.His514Asn)
c.1402C>A (p.His468Asn)
c.1255C>A (p.His419Asn)
c.1117C>A (p.His373Asn)
c.1096C>A (p.His366Asn)
c.1252C>A (p.His418Asn)
c.1339C>A (p.His447Asn)
 dbSNP gnomAD v2 gnomAD v4
4g.80202162C=CA1471292438PRDM8c.700C= (p.His234=)
c.703C= (p.His235=)
c.1543C= (p.His515=)
c.1540C= (p.His514=)
c.1402C= (p.His468=)
c.1255C= (p.His419=)
c.1117C= (p.His373=)
c.1096C= (p.His366=)
c.1252C= (p.His418=)
c.1339C= (p.His447=)
4g.80202162C>GCA357394923PRDM8c.700C>G (p.His234Asp)
c.703C>G (p.His235Asp)
c.1543C>G (p.His515Asp)
c.1540C>G (p.His514Asp)
c.1402C>G (p.His468Asp)
c.1255C>G (p.His419Asp)
c.1117C>G (p.His373Asp)
c.1096C>G (p.His366Asp)
c.1252C>G (p.His418Asp)
c.1339C>G (p.His447Asp)
4g.80202162C>TCA357394924PRDM8c.700C>T (p.His234Tyr)
c.703C>T (p.His235Tyr)
c.1543C>T (p.His515Tyr)
c.1540C>T (p.His514Tyr)
c.1402C>T (p.His468Tyr)
c.1255C>T (p.His419Tyr)
c.1117C>T (p.His373Tyr)
c.1096C>T (p.His366Tyr)
c.1252C>T (p.His418Tyr)
c.1339C>T (p.His447Tyr)
 COSMIC
4g.80202163A=CA1471292441PRDM8c.701A= (p.His234=)
c.704A= (p.His235=)
c.1544A= (p.His515=)
c.1541A= (p.His514=)
c.1403A= (p.His468=)
c.1256A= (p.His419=)
c.1118A= (p.His373=)
c.1097A= (p.His366=)
c.1253A= (p.His418=)
c.1340A= (p.His447=)
4g.80202163A>CCA100000197PRDM8c.701A>C (p.His234Pro)
c.704A>C (p.His235Pro)
c.1544A>C (p.His515Pro)
c.1541A>C (p.His514Pro)
c.1403A>C (p.His468Pro)
c.1256A>C (p.His419Pro)
c.1118A>C (p.His373Pro)
c.1097A>C (p.His366Pro)
c.1253A>C (p.His418Pro)
c.1340A>C (p.His447Pro)
 dbSNP
4g.80202163A>GCA357394932PRDM8c.701A>G (p.His234Arg)
c.704A>G (p.His235Arg)
c.1544A>G (p.His515Arg)
c.1541A>G (p.His514Arg)
c.1403A>G (p.His468Arg)
c.1256A>G (p.His419Arg)
c.1118A>G (p.His373Arg)
c.1097A>G (p.His366Arg)
c.1253A>G (p.His418Arg)
c.1340A>G (p.His447Arg)
 dbSNP gnomAD v4
4g.80202163A>TCA357394935PRDM8c.701A>T (p.His234Leu)
c.704A>T (p.His235Leu)
c.1544A>T (p.His515Leu)
c.1541A>T (p.His514Leu)
c.1403A>T (p.His468Leu)
c.1256A>T (p.His419Leu)
c.1118A>T (p.His373Leu)
c.1097A>T (p.His366Leu)
c.1253A>T (p.His418Leu)
c.1340A>T (p.His447Leu)
4g.80202164C>ACA357394937PRDM8c.702C>A (p.His234Gln)
c.705C>A (p.His235Gln)
c.1545C>A (p.His515Gln)
c.1542C>A (p.His514Gln)
c.1404C>A (p.His468Gln)
c.1257C>A (p.His419Gln)
c.1119C>A (p.His373Gln)
c.1098C>A (p.His366Gln)
c.1254C>A (p.His418Gln)
c.1341C>A (p.His447Gln)
4g.80202164C=CA1471292448PRDM8c.702C= (p.His234=)
c.705C= (p.His235=)
c.1545C= (p.His515=)
c.1542C= (p.His514=)
c.1404C= (p.His468=)
c.1257C= (p.His419=)
c.1119C= (p.His373=)
c.1098C= (p.His366=)
c.1254C= (p.His418=)
c.1341C= (p.His447=)
4g.80202164C>GCA357394938PRDM8c.702C>G (p.His234Gln)
c.705C>G (p.His235Gln)
c.1545C>G (p.His515Gln)
c.1542C>G (p.His514Gln)
c.1404C>G (p.His468Gln)
c.1257C>G (p.His419Gln)
c.1119C>G (p.His373Gln)
c.1098C>G (p.His366Gln)
c.1254C>G (p.His418Gln)
c.1341C>G (p.His447Gln)
4g.80202164C>TCA440226577PRDM8c.702C>T (p.His234=)
c.705C>T (p.His235=)
c.1545C>T (p.His515=)
c.1542C>T (p.His514=)
c.1404C>T (p.His468=)
c.1257C>T (p.His419=)
c.1119C>T (p.His373=)
c.1098C>T (p.His366=)
c.1254C>T (p.His418=)
c.1341C>T (p.His447=)
 dbSNP
4g.80202165C>ACA357394939PRDM8c.703C>A (p.His235Asn)
c.706C>A (p.His236Asn)
c.1546C>A (p.His516Asn)
c.1543C>A (p.His515Asn)
c.1405C>A (p.His469Asn)
c.1258C>A (p.His420Asn)
c.1120C>A (p.His374Asn)
c.1099C>A (p.His367Asn)
c.1255C>A (p.His419Asn)
c.1342C>A (p.His448Asn)
4g.80202165C>GCA357394941PRDM8c.703C>G (p.His235Asp)
c.706C>G (p.His236Asp)
c.1546C>G (p.His516Asp)
c.1543C>G (p.His515Asp)
c.1405C>G (p.His469Asp)
c.1258C>G (p.His420Asp)
c.1120C>G (p.His374Asp)
c.1099C>G (p.His367Asp)
c.1255C>G (p.His419Asp)
c.1342C>G (p.His448Asp)
4g.80202165C>TCA357394942PRDM8c.703C>T (p.His235Tyr)
c.706C>T (p.His236Tyr)
c.1546C>T (p.His516Tyr)
c.1543C>T (p.His515Tyr)
c.1405C>T (p.His469Tyr)
c.1258C>T (p.His420Tyr)
c.1120C>T (p.His374Tyr)
c.1099C>T (p.His367Tyr)
c.1255C>T (p.His419Tyr)
c.1342C>T (p.His448Tyr)
4g.80202166A>CCA357394945PRDM8c.704A>C (p.His235Pro)
c.707A>C (p.His236Pro)
c.1547A>C (p.His516Pro)
c.1544A>C (p.His515Pro)
c.1406A>C (p.His469Pro)
c.1259A>C (p.His420Pro)
c.1121A>C (p.His374Pro)
c.1100A>C (p.His367Pro)
c.1256A>C (p.His419Pro)
c.1343A>C (p.His448Pro)
4g.80202166A>GCA357394949PRDM8c.704A>G (p.His235Arg)
c.707A>G (p.His236Arg)
c.1547A>G (p.His516Arg)
c.1544A>G (p.His515Arg)
c.1406A>G (p.His469Arg)
c.1259A>G (p.His420Arg)
c.1121A>G (p.His374Arg)
c.1100A>G (p.His367Arg)
c.1256A>G (p.His419Arg)
c.1343A>G (p.His448Arg)
4g.80202166A>TCA357394947PRDM8c.704A>T (p.His235Leu)
c.707A>T (p.His236Leu)
c.1547A>T (p.His516Leu)
c.1544A>T (p.His515Leu)
c.1406A>T (p.His469Leu)
c.1259A>T (p.His420Leu)
c.1121A>T (p.His374Leu)
c.1100A>T (p.His367Leu)
c.1256A>T (p.His419Leu)
c.1343A>T (p.His448Leu)
4g.80202166_80202167insAACACACCCA2762347074PRDM8c.704_705insAACACACC (p.His235GlnfsTer?)
c.707_708insAACACACC (p.His236GlnfsTer?)
c.1547_1548insAACACACC (p.His516GlnfsTer?)
c.1544_1545insAACACACC (p.His515GlnfsTer?)
c.1406_1407insAACACACC (p.His469GlnfsTer?)
c.1259_1260insAACACACC (p.His420GlnfsTer?)
c.1121_1122insAACACACC (p.His374GlnfsTer?)
c.1100_1101insAACACACC (p.His367GlnfsTer?)
c.1256_1257insAACACACC (p.His419GlnfsTer?)
c.1343_1344insAACACACC (p.His448GlnfsTer?)
4g.80202167C>ACA357394952PRDM8c.705C>A (p.His235Gln)
c.708C>A (p.His236Gln)
c.1548C>A (p.His516Gln)
c.1545C>A (p.His515Gln)
c.1407C>A (p.His469Gln)
c.1260C>A (p.His420Gln)
c.1122C>A (p.His374Gln)
c.1101C>A (p.His367Gln)
c.1257C>A (p.His419Gln)
c.1344C>A (p.His448Gln)
4g.80202167C>GCA357394954PRDM8c.705C>G (p.His235Gln)
c.708C>G (p.His236Gln)
c.1548C>G (p.His516Gln)
c.1545C>G (p.His515Gln)
c.1407C>G (p.His469Gln)
c.1260C>G (p.His420Gln)
c.1122C>G (p.His374Gln)
c.1101C>G (p.His367Gln)
c.1257C>G (p.His419Gln)
c.1344C>G (p.His448Gln)
4g.80202167C>TCA440226581PRDM8c.705C>T (p.His235=)
c.708C>T (p.His236=)
c.1548C>T (p.His516=)
c.1545C>T (p.His515=)
c.1407C>T (p.His469=)
c.1260C>T (p.His420=)
c.1122C>T (p.His374=)
c.1101C>T (p.His367=)
c.1257C>T (p.His419=)
c.1344C>T (p.His448=)
 gnomAD v4
4g.80202168T>ACA357394955PRDM8c.706T>A (p.Tyr236Asn)
c.709T>A (p.Tyr237Asn)
c.1549T>A (p.Tyr517Asn)
c.1546T>A (p.Tyr516Asn)
c.1408T>A (p.Tyr470Asn)
c.1261T>A (p.Tyr421Asn)
c.1123T>A (p.Tyr375Asn)
c.1102T>A (p.Tyr368Asn)
c.1258T>A (p.Tyr420Asn)
c.1345T>A (p.Tyr449Asn)
4g.80202168T>CCA357394962PRDM8c.706T>C (p.Tyr236His)
c.709T>C (p.Tyr237His)
c.1549T>C (p.Tyr517His)
c.1546T>C (p.Tyr516His)
c.1408T>C (p.Tyr470His)
c.1261T>C (p.Tyr421His)
c.1123T>C (p.Tyr375His)
c.1102T>C (p.Tyr368His)
c.1258T>C (p.Tyr420His)
c.1345T>C (p.Tyr449His)
4g.80202168T>GCA357394966PRDM8c.706T>G (p.Tyr236Asp)
c.709T>G (p.Tyr237Asp)
c.1549T>G (p.Tyr517Asp)
c.1546T>G (p.Tyr516Asp)
c.1408T>G (p.Tyr470Asp)
c.1261T>G (p.Tyr421Asp)
c.1123T>G (p.Tyr375Asp)
c.1102T>G (p.Tyr368Asp)
c.1258T>G (p.Tyr420Asp)
c.1345T>G (p.Tyr449Asp)
4g.80202169A>CCA357394969PRDM8c.707A>C (p.Tyr236Ser)
c.710A>C (p.Tyr237Ser)
c.1550A>C (p.Tyr517Ser)
c.1547A>C (p.Tyr516Ser)
c.1409A>C (p.Tyr470Ser)
c.1262A>C (p.Tyr421Ser)
c.1124A>C (p.Tyr375Ser)
c.1103A>C (p.Tyr368Ser)
c.1259A>C (p.Tyr420Ser)
c.1346A>C (p.Tyr449Ser)
4g.80202169A>GCA357394970PRDM8c.707A>G (p.Tyr236Cys)
c.710A>G (p.Tyr237Cys)
c.1550A>G (p.Tyr517Cys)
c.1547A>G (p.Tyr516Cys)
c.1409A>G (p.Tyr470Cys)
c.1262A>G (p.Tyr421Cys)
c.1124A>G (p.Tyr375Cys)
c.1103A>G (p.Tyr368Cys)
c.1259A>G (p.Tyr420Cys)
c.1346A>G (p.Tyr449Cys)
4g.80202169A>TCA357394971PRDM8c.707A>T (p.Tyr236Phe)
c.710A>T (p.Tyr237Phe)
c.1550A>T (p.Tyr517Phe)
c.1547A>T (p.Tyr516Phe)
c.1409A>T (p.Tyr470Phe)
c.1262A>T (p.Tyr421Phe)
c.1124A>T (p.Tyr375Phe)
c.1103A>T (p.Tyr368Phe)
c.1259A>T (p.Tyr420Phe)
c.1346A>T (p.Tyr449Phe)
4g.80202170C>ACA357394975PRDM8c.708C>A (p.Tyr236Ter)
c.711C>A (p.Tyr237Ter)
c.1551C>A (p.Tyr517Ter)
c.1548C>A (p.Tyr516Ter)
c.1410C>A (p.Tyr470Ter)
c.1263C>A (p.Tyr421Ter)
c.1125C>A (p.Tyr375Ter)
c.1104C>A (p.Tyr368Ter)
c.1260C>A (p.Tyr420Ter)
c.1347C>A (p.Tyr449Ter)
4g.80202170C>GCA357394976PRDM8c.708C>G (p.Tyr236Ter)
c.711C>G (p.Tyr237Ter)
c.1551C>G (p.Tyr517Ter)
c.1548C>G (p.Tyr516Ter)
c.1410C>G (p.Tyr470Ter)
c.1263C>G (p.Tyr421Ter)
c.1125C>G (p.Tyr375Ter)
c.1104C>G (p.Tyr368Ter)
c.1260C>G (p.Tyr420Ter)
c.1347C>G (p.Tyr449Ter)
4g.80202170C>TCA440226583PRDM8c.708C>T (p.Tyr236=)
c.711C>T (p.Tyr237=)
c.1551C>T (p.Tyr517=)
c.1548C>T (p.Tyr516=)
c.1410C>T (p.Tyr470=)
c.1263C>T (p.Tyr421=)
c.1125C>T (p.Tyr375=)
c.1104C>T (p.Tyr368=)
c.1260C>T (p.Tyr420=)
c.1347C>T (p.Tyr449=)
4g.80202170_80202171insACA2762347075PRDM8c.708_709insA (p.Pro237ThrfsTer?)
c.711_712insA (p.Pro238ThrfsTer?)
c.1551_1552insA (p.Pro518ThrfsTer?)
c.1548_1549insA (p.Pro517ThrfsTer?)
c.1410_1411insA (p.Pro471ThrfsTer?)
c.1263_1264insA (p.Pro422ThrfsTer?)
c.1125_1126insA (p.Pro376ThrfsTer?)
c.1104_1105insA (p.Pro369ThrfsTer?)
c.1260_1261insA (p.Pro421ThrfsTer?)
c.1347_1348insA (p.Pro450ThrfsTer?)
4g.80202171C>ACA357394978PRDM8c.709C>A (p.Pro237Thr)
c.712C>A (p.Pro238Thr)
c.1552C>A (p.Pro518Thr)
c.1549C>A (p.Pro517Thr)
c.1411C>A (p.Pro471Thr)
c.1264C>A (p.Pro422Thr)
c.1126C>A (p.Pro376Thr)
c.1105C>A (p.Pro369Thr)
c.1261C>A (p.Pro421Thr)
c.1348C>A (p.Pro450Thr)
4g.80202171C=CA1471292452PRDM8c.709C= (p.Pro237=)
c.712C= (p.Pro238=)
c.1552C= (p.Pro518=)
c.1549C= (p.Pro517=)
c.1411C= (p.Pro471=)
c.1264C= (p.Pro422=)
c.1126C= (p.Pro376=)
c.1105C= (p.Pro369=)
c.1261C= (p.Pro421=)
c.1348C= (p.Pro450=)
4g.80202171C>GCA357394979PRDM8c.709C>G (p.Pro237Ala)
c.712C>G (p.Pro238Ala)
c.1552C>G (p.Pro518Ala)
c.1549C>G (p.Pro517Ala)
c.1411C>G (p.Pro471Ala)
c.1264C>G (p.Pro422Ala)
c.1126C>G (p.Pro376Ala)
c.1105C>G (p.Pro369Ala)
c.1261C>G (p.Pro421Ala)
c.1348C>G (p.Pro450Ala)
 dbSNP gnomAD v4
4g.80202171C>TCA357394977PRDM8c.709C>T (p.Pro237Ser)
c.712C>T (p.Pro238Ser)
c.1552C>T (p.Pro518Ser)
c.1549C>T (p.Pro517Ser)
c.1411C>T (p.Pro471Ser)
c.1264C>T (p.Pro422Ser)
c.1126C>T (p.Pro376Ser)
c.1105C>T (p.Pro369Ser)
c.1261C>T (p.Pro421Ser)
c.1348C>T (p.Pro450Ser)
4g.80202172C>ACA357394984PRDM8c.710C>A (p.Pro237Gln)
c.713C>A (p.Pro238Gln)
c.1553C>A (p.Pro518Gln)
c.1550C>A (p.Pro517Gln)
c.1412C>A (p.Pro471Gln)
c.1265C>A (p.Pro422Gln)
c.1127C>A (p.Pro376Gln)
c.1106C>A (p.Pro369Gln)
c.1262C>A (p.Pro421Gln)
c.1349C>A (p.Pro450Gln)
4g.80202172C=CA1471292459PRDM8c.710C= (p.Pro237=)
c.713C= (p.Pro238=)
c.1553C= (p.Pro518=)
c.1550C= (p.Pro517=)
c.1412C= (p.Pro471=)
c.1265C= (p.Pro422=)
c.1127C= (p.Pro376=)
c.1106C= (p.Pro369=)
c.1262C= (p.Pro421=)
c.1349C= (p.Pro450=)
4g.80202172C>GCA357394981PRDM8c.710C>G (p.Pro237Arg)
c.713C>G (p.Pro238Arg)
c.1553C>G (p.Pro518Arg)
c.1550C>G (p.Pro517Arg)
c.1412C>G (p.Pro471Arg)
c.1265C>G (p.Pro422Arg)
c.1127C>G (p.Pro376Arg)
c.1106C>G (p.Pro369Arg)
c.1262C>G (p.Pro421Arg)
c.1349C>G (p.Pro450Arg)
4g.80202172C>TCA357394983PRDM8c.710C>T (p.Pro237Leu)
c.713C>T (p.Pro238Leu)
c.1553C>T (p.Pro518Leu)
c.1550C>T (p.Pro517Leu)
c.1412C>T (p.Pro471Leu)
c.1265C>T (p.Pro422Leu)
c.1127C>T (p.Pro376Leu)
c.1106C>T (p.Pro369Leu)
c.1262C>T (p.Pro421Leu)
c.1349C>T (p.Pro450Leu)
 ClinVar dbSNP gnomAD v4
4g.80202173A>CCA440226585PRDM8c.711A>C (p.Pro237=)
c.714A>C (p.Pro238=)
c.1554A>C (p.Pro518=)
c.1551A>C (p.Pro517=)
c.1413A>C (p.Pro471=)
c.1266A>C (p.Pro422=)
c.1128A>C (p.Pro376=)
c.1107A>C (p.Pro369=)
c.1263A>C (p.Pro421=)
c.1350A>C (p.Pro450=)
4g.80202173A>GCA440226586PRDM8c.711A>G (p.Pro237=)
c.714A>G (p.Pro238=)
c.1554A>G (p.Pro518=)
c.1551A>G (p.Pro517=)
c.1413A>G (p.Pro471=)
c.1266A>G (p.Pro422=)
c.1128A>G (p.Pro376=)
c.1107A>G (p.Pro369=)
c.1263A>G (p.Pro421=)
c.1350A>G (p.Pro450=)
4g.80202173A>TCA440226587PRDM8c.711A>T (p.Pro237=)
c.714A>T (p.Pro238=)
c.1554A>T (p.Pro518=)
c.1551A>T (p.Pro517=)
c.1413A>T (p.Pro471=)
c.1266A>T (p.Pro422=)
c.1128A>T (p.Pro376=)
c.1107A>T (p.Pro369=)
c.1263A>T (p.Pro421=)
c.1350A>T (p.Pro450=)
4g.80202173_80202174delinsATCA1471292462PRDM8c.711_712delinsAT (p.Pro237=)
c.714_715delinsAT (p.Pro238=)
c.1554_1555delinsAT (p.Pro518=)
c.1551_1552delinsAT (p.Pro517=)
c.1413_1414delinsAT (p.Pro471=)
c.1266_1267delinsAT (p.Pro422=)
c.1128_1129delinsAT (p.Pro376=)
c.1107_1108delinsAT (p.Pro369=)
c.1263_1264delinsAT (p.Pro421=)
c.1350_1351delinsAT (p.Pro450=)
4g.80202174delCA1471292467PRDM8c.712del (p.Ser238ProfsTer?)
c.715del (p.Ser239ProfsTer?)
c.1555del (p.Ser519ProfsTer?)
c.1552del (p.Ser518ProfsTer?)
c.1414del (p.Ser472ProfsTer?)
c.1267del (p.Ser423ProfsTer?)
c.1129del (p.Ser377ProfsTer?)
c.1108del (p.Ser370ProfsTer?)
c.1264del (p.Ser422ProfsTer?)
c.1351del (p.Ser451ProfsTer?)
 dbSNP
4g.80202174T>ACA357394986PRDM8c.712T>A (p.Ser238Thr)
c.715T>A (p.Ser239Thr)
c.1555T>A (p.Ser519Thr)
c.1552T>A (p.Ser518Thr)
c.1414T>A (p.Ser472Thr)
c.1267T>A (p.Ser423Thr)
c.1129T>A (p.Ser377Thr)
c.1108T>A (p.Ser370Thr)
c.1264T>A (p.Ser422Thr)
c.1351T>A (p.Ser451Thr)
4g.80202174T>CCA357394989PRDM8c.712T>C (p.Ser238Pro)
c.715T>C (p.Ser239Pro)
c.1555T>C (p.Ser519Pro)
c.1552T>C (p.Ser518Pro)
c.1414T>C (p.Ser472Pro)
c.1267T>C (p.Ser423Pro)
c.1129T>C (p.Ser377Pro)
c.1108T>C (p.Ser370Pro)
c.1264T>C (p.Ser422Pro)
c.1351T>C (p.Ser451Pro)
4g.80202174T>GCA357394991PRDM8c.712T>G (p.Ser238Ala)
c.715T>G (p.Ser239Ala)
c.1555T>G (p.Ser519Ala)
c.1552T>G (p.Ser518Ala)
c.1414T>G (p.Ser472Ala)
c.1267T>G (p.Ser423Ala)
c.1129T>G (p.Ser377Ala)
c.1108T>G (p.Ser370Ala)
c.1264T>G (p.Ser422Ala)
c.1351T>G (p.Ser451Ala)
4g.80202175C>ACA357394998PRDM8c.713C>A (p.Ser238Tyr)
c.716C>A (p.Ser239Tyr)
c.1556C>A (p.Ser519Tyr)
c.1553C>A (p.Ser518Tyr)
c.1415C>A (p.Ser472Tyr)
c.1268C>A (p.Ser423Tyr)
c.1130C>A (p.Ser377Tyr)
c.1109C>A (p.Ser370Tyr)
c.1265C>A (p.Ser422Tyr)
c.1352C>A (p.Ser451Tyr)
4g.80202175C=CA1471292469PRDM8c.713C= (p.Ser238=)
c.716C= (p.Ser239=)
c.1556C= (p.Ser519=)
c.1553C= (p.Ser518=)
c.1415C= (p.Ser472=)
c.1268C= (p.Ser423=)
c.1130C= (p.Ser377=)
c.1109C= (p.Ser370=)
c.1265C= (p.Ser422=)
c.1352C= (p.Ser451=)
4g.80202175C>GCA357395000PRDM8c.713C>G (p.Ser238Cys)
c.716C>G (p.Ser239Cys)
c.1556C>G (p.Ser519Cys)
c.1553C>G (p.Ser518Cys)
c.1415C>G (p.Ser472Cys)
c.1268C>G (p.Ser423Cys)
c.1130C>G (p.Ser377Cys)
c.1109C>G (p.Ser370Cys)
c.1265C>G (p.Ser422Cys)
c.1352C>G (p.Ser451Cys)
 gnomAD v4
4g.80202175C>TCA357395001PRDM8c.713C>T (p.Ser238Phe)
c.716C>T (p.Ser239Phe)
c.1556C>T (p.Ser519Phe)
c.1553C>T (p.Ser518Phe)
c.1415C>T (p.Ser472Phe)
c.1268C>T (p.Ser423Phe)
c.1130C>T (p.Ser377Phe)
c.1109C>T (p.Ser370Phe)
c.1265C>T (p.Ser422Phe)
c.1352C>T (p.Ser451Phe)
 dbSNP gnomAD v2 gnomAD v4
4g.80202176C>ACA440226591PRDM8c.714C>A (p.Ser238=)
c.717C>A (p.Ser239=)
c.1557C>A (p.Ser519=)
c.1554C>A (p.Ser518=)
c.1416C>A (p.Ser472=)
c.1269C>A (p.Ser423=)
c.1131C>A (p.Ser377=)
c.1110C>A (p.Ser370=)
c.1266C>A (p.Ser422=)
c.1353C>A (p.Ser451=)
 dbSNP gnomAD v2 gnomAD v4
4g.80202176C=CA1471292472PRDM8c.714C= (p.Ser238=)
c.717C= (p.Ser239=)
c.1557C= (p.Ser519=)
c.1554C= (p.Ser518=)
c.1416C= (p.Ser472=)
c.1269C= (p.Ser423=)
c.1131C= (p.Ser377=)
c.1110C= (p.Ser370=)
c.1266C= (p.Ser422=)
c.1353C= (p.Ser451=)
4g.80202176C>GCA440226589PRDM8c.714C>G (p.Ser238=)
c.717C>G (p.Ser239=)
c.1557C>G (p.Ser519=)
c.1554C>G (p.Ser518=)
c.1416C>G (p.Ser472=)
c.1269C>G (p.Ser423=)
c.1131C>G (p.Ser377=)
c.1110C>G (p.Ser370=)
c.1266C>G (p.Ser422=)
c.1353C>G (p.Ser451=)
4g.80202176C>TCA440226590PRDM8c.714C>T (p.Ser238=)
c.717C>T (p.Ser239=)
c.1557C>T (p.Ser519=)
c.1554C>T (p.Ser518=)
c.1416C>T (p.Ser472=)
c.1269C>T (p.Ser423=)
c.1131C>T (p.Ser377=)
c.1110C>T (p.Ser370=)
c.1266C>T (p.Ser422=)
c.1353C>T (p.Ser451=)
4g.80202177C>ACA2982312PRDM8c.715C>A (p.Pro239Thr)
c.718C>A (p.Pro240Thr)
c.1558C>A (p.Pro520Thr)
c.1555C>A (p.Pro519Thr)
c.1417C>A (p.Pro473Thr)
c.1270C>A (p.Pro424Thr)
c.1132C>A (p.Pro378Thr)
c.1111C>A (p.Pro371Thr)
c.1267C>A (p.Pro423Thr)
c.1354C>A (p.Pro452Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.80202177C=CA1471292476PRDM8c.715C= (p.Pro239=)
c.718C= (p.Pro240=)
c.1558C= (p.Pro520=)
c.1555C= (p.Pro519=)
c.1417C= (p.Pro473=)
c.1270C= (p.Pro424=)
c.1132C= (p.Pro378=)
c.1111C= (p.Pro371=)
c.1267C= (p.Pro423=)
c.1354C= (p.Pro452=)
4g.80202177C>GCA357395002PRDM8c.715C>G (p.Pro239Ala)
c.718C>G (p.Pro240Ala)
c.1558C>G (p.Pro520Ala)
c.1555C>G (p.Pro519Ala)
c.1417C>G (p.Pro473Ala)
c.1270C>G (p.Pro424Ala)
c.1132C>G (p.Pro378Ala)
c.1111C>G (p.Pro371Ala)
c.1267C>G (p.Pro423Ala)
c.1354C>G (p.Pro452Ala)
 dbSNP gnomAD v2 gnomAD v4
4g.80202177C>TCA357395003PRDM8c.715C>T (p.Pro239Ser)
c.718C>T (p.Pro240Ser)
c.1558C>T (p.Pro520Ser)
c.1555C>T (p.Pro519Ser)
c.1417C>T (p.Pro473Ser)
c.1270C>T (p.Pro424Ser)
c.1132C>T (p.Pro378Ser)
c.1111C>T (p.Pro371Ser)
c.1267C>T (p.Pro423Ser)
c.1354C>T (p.Pro452Ser)
 dbSNP gnomAD v3 gnomAD v4
4g.80202178C>ACA357395010PRDM8c.716C>A (p.Pro239His)
c.719C>A (p.Pro240His)
c.1559C>A (p.Pro520His)
c.1556C>A (p.Pro519His)
c.1418C>A (p.Pro473His)
c.1271C>A (p.Pro424His)
c.1133C>A (p.Pro378His)
c.1112C>A (p.Pro371His)
c.1268C>A (p.Pro423His)
c.1355C>A (p.Pro452His)
4g.80202178C>GCA357395008PRDM8c.716C>G (p.Pro239Arg)
c.719C>G (p.Pro240Arg)
c.1559C>G (p.Pro520Arg)
c.1556C>G (p.Pro519Arg)
c.1418C>G (p.Pro473Arg)
c.1271C>G (p.Pro424Arg)
c.1133C>G (p.Pro378Arg)
c.1112C>G (p.Pro371Arg)
c.1268C>G (p.Pro423Arg)
c.1355C>G (p.Pro452Arg)
4g.80202178C>TCA357395005PRDM8c.716C>T (p.Pro239Leu)
c.719C>T (p.Pro240Leu)
c.1559C>T (p.Pro520Leu)
c.1556C>T (p.Pro519Leu)
c.1418C>T (p.Pro473Leu)
c.1271C>T (p.Pro424Leu)
c.1133C>T (p.Pro378Leu)
c.1112C>T (p.Pro371Leu)
c.1268C>T (p.Pro423Leu)
c.1355C>T (p.Pro452Leu)
4g.80202179C>ACA440226594PRDM8c.717C>A (p.Pro239=)
c.720C>A (p.Pro240=)
c.1560C>A (p.Pro520=)
c.1557C>A (p.Pro519=)
c.1419C>A (p.Pro473=)
c.1272C>A (p.Pro424=)
c.1134C>A (p.Pro378=)
c.1113C>A (p.Pro371=)
c.1269C>A (p.Pro423=)
c.1356C>A (p.Pro452=)
 gnomAD v4
4g.80202179C>GCA440226593PRDM8c.717C>G (p.Pro239=)
c.720C>G (p.Pro240=)
c.1560C>G (p.Pro520=)
c.1557C>G (p.Pro519=)
c.1419C>G (p.Pro473=)
c.1272C>G (p.Pro424=)
c.1134C>G (p.Pro378=)
c.1113C>G (p.Pro371=)
c.1269C>G (p.Pro423=)
c.1356C>G (p.Pro452=)
4g.80202179C>TCA440226592PRDM8c.717C>T (p.Pro239=)
c.720C>T (p.Pro240=)
c.1560C>T (p.Pro520=)
c.1557C>T (p.Pro519=)
c.1419C>T (p.Pro473=)
c.1272C>T (p.Pro424=)
c.1134C>T (p.Pro378=)
c.1113C>T (p.Pro371=)
c.1269C>T (p.Pro423=)
c.1356C>T (p.Pro452=)
 gnomAD v4 COSMIC
4g.80202180T>ACA357395013PRDM8c.718T>A (p.Ser240Thr)
c.721T>A (p.Ser241Thr)
c.1561T>A (p.Ser521Thr)
c.1558T>A (p.Ser520Thr)
c.1420T>A (p.Ser474Thr)
c.1273T>A (p.Ser425Thr)
c.1135T>A (p.Ser379Thr)
c.1114T>A (p.Ser372Thr)
c.1270T>A (p.Ser424Thr)
c.1357T>A (p.Ser453Thr)
4g.80202180T>CCA357395016PRDM8c.718T>C (p.Ser240Pro)
c.721T>C (p.Ser241Pro)
c.1561T>C (p.Ser521Pro)
c.1558T>C (p.Ser520Pro)
c.1420T>C (p.Ser474Pro)
c.1273T>C (p.Ser425Pro)
c.1135T>C (p.Ser379Pro)
c.1114T>C (p.Ser372Pro)
c.1270T>C (p.Ser424Pro)
c.1357T>C (p.Ser453Pro)
4g.80202180T>GCA357395018PRDM8c.718T>G (p.Ser240Ala)
c.721T>G (p.Ser241Ala)
c.1561T>G (p.Ser521Ala)
c.1558T>G (p.Ser520Ala)
c.1420T>G (p.Ser474Ala)
c.1273T>G (p.Ser425Ala)
c.1135T>G (p.Ser379Ala)
c.1114T>G (p.Ser372Ala)
c.1270T>G (p.Ser424Ala)
c.1357T>G (p.Ser453Ala)
4g.80202181C>ACA357395021PRDM8c.719C>A (p.Ser240Tyr)
c.722C>A (p.Ser241Tyr)
c.1562C>A (p.Ser521Tyr)
c.1559C>A (p.Ser520Tyr)
c.1421C>A (p.Ser474Tyr)
c.1274C>A (p.Ser425Tyr)
c.1136C>A (p.Ser379Tyr)
c.1115C>A (p.Ser372Tyr)
c.1271C>A (p.Ser424Tyr)
c.1358C>A (p.Ser453Tyr)
4g.80202181C>GCA357395022PRDM8c.719C>G (p.Ser240Cys)
c.722C>G (p.Ser241Cys)
c.1562C>G (p.Ser521Cys)
c.1559C>G (p.Ser520Cys)
c.1421C>G (p.Ser474Cys)
c.1274C>G (p.Ser425Cys)
c.1136C>G (p.Ser379Cys)
c.1115C>G (p.Ser372Cys)
c.1271C>G (p.Ser424Cys)
c.1358C>G (p.Ser453Cys)
4g.80202181C>TCA357395024PRDM8c.719C>T (p.Ser240Phe)
c.722C>T (p.Ser241Phe)
c.1562C>T (p.Ser521Phe)
c.1559C>T (p.Ser520Phe)
c.1421C>T (p.Ser474Phe)
c.1274C>T (p.Ser425Phe)
c.1136C>T (p.Ser379Phe)
c.1115C>T (p.Ser372Phe)
c.1271C>T (p.Ser424Phe)
c.1358C>T (p.Ser453Phe)
 dbSNP gnomAD v4
4g.80202182C>ACA440226598PRDM8c.720C>A (p.Ser240=)
c.723C>A (p.Ser241=)
c.1563C>A (p.Ser521=)
c.1560C>A (p.Ser520=)
c.1422C>A (p.Ser474=)
c.1275C>A (p.Ser425=)
c.1137C>A (p.Ser379=)
c.1116C>A (p.Ser372=)
c.1272C>A (p.Ser424=)
c.1359C>A (p.Ser453=)
4g.80202182C>GCA440226600PRDM8c.720C>G (p.Ser240=)
c.723C>G (p.Ser241=)
c.1563C>G (p.Ser521=)
c.1560C>G (p.Ser520=)
c.1422C>G (p.Ser474=)
c.1275C>G (p.Ser425=)
c.1137C>G (p.Ser379=)
c.1116C>G (p.Ser372=)
c.1272C>G (p.Ser424=)
c.1359C>G (p.Ser453=)
4g.80202182C>TCA440226599PRDM8c.720C>T (p.Ser240=)
c.723C>T (p.Ser241=)
c.1563C>T (p.Ser521=)
c.1560C>T (p.Ser520=)
c.1422C>T (p.Ser474=)
c.1275C>T (p.Ser425=)
c.1137C>T (p.Ser379=)
c.1116C>T (p.Ser372=)
c.1272C>T (p.Ser424=)
c.1359C>T (p.Ser453=)
4g.80202183C>ACA357395026PRDM8c.721C>A (p.Pro241Thr)
c.724C>A (p.Pro242Thr)
c.1564C>A (p.Pro522Thr)
c.1561C>A (p.Pro521Thr)
c.1423C>A (p.Pro475Thr)
c.1276C>A (p.Pro426Thr)
c.1138C>A (p.Pro380Thr)
c.1117C>A (p.Pro373Thr)
c.1273C>A (p.Pro425Thr)
c.1360C>A (p.Pro454Thr)
4g.80202183C=CA1471292485PRDM8c.721C= (p.Pro241=)
c.724C= (p.Pro242=)
c.1564C= (p.Pro522=)
c.1561C= (p.Pro521=)
c.1423C= (p.Pro475=)
c.1276C= (p.Pro426=)
c.1138C= (p.Pro380=)
c.1117C= (p.Pro373=)
c.1273C= (p.Pro425=)
c.1360C= (p.Pro454=)
4g.80202183C>GCA357395027PRDM8c.721C>G (p.Pro241Ala)
c.724C>G (p.Pro242Ala)
c.1564C>G (p.Pro522Ala)
c.1561C>G (p.Pro521Ala)
c.1423C>G (p.Pro475Ala)
c.1276C>G (p.Pro426Ala)
c.1138C>G (p.Pro380Ala)
c.1117C>G (p.Pro373Ala)
c.1273C>G (p.Pro425Ala)
c.1360C>G (p.Pro454Ala)
4g.80202183C>TCA2982313PRDM8c.721C>T (p.Pro241Ser)
c.724C>T (p.Pro242Ser)
c.1564C>T (p.Pro522Ser)
c.1561C>T (p.Pro521Ser)
c.1423C>T (p.Pro475Ser)
c.1276C>T (p.Pro426Ser)
c.1138C>T (p.Pro380Ser)
c.1117C>T (p.Pro373Ser)
c.1273C>T (p.Pro425Ser)
c.1360C>T (p.Pro454Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.80202184C>ACA2982314PRDM8c.722C>A (p.Pro241Gln)
c.725C>A (p.Pro242Gln)
c.1565C>A (p.Pro522Gln)
c.1562C>A (p.Pro521Gln)
c.1424C>A (p.Pro475Gln)
c.1277C>A (p.Pro426Gln)
c.1139C>A (p.Pro380Gln)
c.1118C>A (p.Pro373Gln)
c.1274C>A (p.Pro425Gln)
c.1361C>A (p.Pro454Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.80202184C=CA1471292493PRDM8c.722C= (p.Pro241=)
c.725C= (p.Pro242=)
c.1565C= (p.Pro522=)
c.1562C= (p.Pro521=)
c.1424C= (p.Pro475=)
c.1277C= (p.Pro426=)
c.1139C= (p.Pro380=)
c.1118C= (p.Pro373=)
c.1274C= (p.Pro425=)
c.1361C= (p.Pro454=)
4g.80202184C>GCA357395029PRDM8c.722C>G (p.Pro241Arg)
c.725C>G (p.Pro242Arg)
c.1565C>G (p.Pro522Arg)
c.1562C>G (p.Pro521Arg)
c.1424C>G (p.Pro475Arg)
c.1277C>G (p.Pro426Arg)
c.1139C>G (p.Pro380Arg)
c.1118C>G (p.Pro373Arg)
c.1274C>G (p.Pro425Arg)
c.1361C>G (p.Pro454Arg)
4g.80202184C>TCA357395032PRDM8c.722C>T (p.Pro241Leu)
c.725C>T (p.Pro242Leu)
c.1565C>T (p.Pro522Leu)
c.1562C>T (p.Pro521Leu)
c.1424C>T (p.Pro475Leu)
c.1277C>T (p.Pro426Leu)
c.1139C>T (p.Pro380Leu)
c.1118C>T (p.Pro373Leu)
c.1274C>T (p.Pro425Leu)
c.1361C>T (p.Pro454Leu)
 dbSNP gnomAD v2
4g.80202185G>ACA440226602PRDM8c.723G>A (p.Pro241=)
c.726G>A (p.Pro242=)
c.1566G>A (p.Pro522=)
c.1563G>A (p.Pro521=)
c.1425G>A (p.Pro475=)
c.1278G>A (p.Pro426=)
c.1140G>A (p.Pro380=)
c.1119G>A (p.Pro373=)
c.1275G>A (p.Pro425=)
c.1362G>A (p.Pro454=)
 dbSNP gnomAD v2 gnomAD v4
4g.80202185G>CCA100000215PRDM8c.723G>C (p.Pro241=)
c.726G>C (p.Pro242=)
c.1566G>C (p.Pro522=)
c.1563G>C (p.Pro521=)
c.1425G>C (p.Pro475=)
c.1278G>C (p.Pro426=)
c.1140G>C (p.Pro380=)
c.1119G>C (p.Pro373=)
c.1275G>C (p.Pro425=)
c.1362G>C (p.Pro454=)
 dbSNP
4g.80202185G=CA1471292509PRDM8c.723G= (p.Pro241=)
c.726G= (p.Pro242=)
c.1566G= (p.Pro522=)
c.1563G= (p.Pro521=)
c.1425G= (p.Pro475=)
c.1278G= (p.Pro426=)
c.1140G= (p.Pro380=)
c.1119G= (p.Pro373=)
c.1275G= (p.Pro425=)
c.1362G= (p.Pro454=)
4g.80202185G>TCA440226603PRDM8c.723G>T (p.Pro241=)
c.726G>T (p.Pro242=)
c.1566G>T (p.Pro522=)
c.1563G>T (p.Pro521=)
c.1425G>T (p.Pro475=)
c.1278G>T (p.Pro426=)
c.1140G>T (p.Pro380=)
c.1119G>T (p.Pro373=)
c.1275G>T (p.Pro425=)
c.1362G>T (p.Pro454=)
4g.80202186G>ACA357395033PRDM8c.724G>A (p.Glu242Lys)
c.727G>A (p.Glu243Lys)
c.1567G>A (p.Glu523Lys)
c.1564G>A (p.Glu522Lys)
c.1426G>A (p.Glu476Lys)
c.1279G>A (p.Glu427Lys)
c.1141G>A (p.Glu381Lys)
c.1120G>A (p.Glu374Lys)
c.1276G>A (p.Glu426Lys)
c.1363G>A (p.Glu455Lys)
 gnomAD v4
4g.80202186G>CCA357395034PRDM8c.724G>C (p.Glu242Gln)
c.727G>C (p.Glu243Gln)
c.1567G>C (p.Glu523Gln)
c.1564G>C (p.Glu522Gln)
c.1426G>C (p.Glu476Gln)
c.1279G>C (p.Glu427Gln)
c.1141G>C (p.Glu381Gln)
c.1120G>C (p.Glu374Gln)
c.1276G>C (p.Glu426Gln)
c.1363G>C (p.Glu455Gln)
4g.80202186G=CA1471292512PRDM8c.724G= (p.Glu242=)
c.727G= (p.Glu243=)
c.1567G= (p.Glu523=)
c.1564G= (p.Glu522=)
c.1426G= (p.Glu476=)
c.1279G= (p.Glu427=)
c.1141G= (p.Glu381=)
c.1120G= (p.Glu374=)
c.1276G= (p.Glu426=)
c.1363G= (p.Glu455=)
4g.80202186G>TCA2982315PRDM8c.724G>T (p.Glu242Ter)
c.727G>T (p.Glu243Ter)
c.1567G>T (p.Glu523Ter)
c.1564G>T (p.Glu522Ter)
c.1426G>T (p.Glu476Ter)
c.1279G>T (p.Glu427Ter)
c.1141G>T (p.Glu381Ter)
c.1120G>T (p.Glu374Ter)
c.1276G>T (p.Glu426Ter)
c.1363G>T (p.Glu455Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.80202187A>CCA357395035PRDM8c.725A>C (p.Glu242Ala)
c.728A>C (p.Glu243Ala)
c.1568A>C (p.Glu523Ala)
c.1565A>C (p.Glu522Ala)
c.1427A>C (p.Glu476Ala)
c.1280A>C (p.Glu427Ala)
c.1142A>C (p.Glu381Ala)
c.1121A>C (p.Glu374Ala)
c.1277A>C (p.Glu426Ala)
c.1364A>C (p.Glu455Ala)
4g.80202187A>GCA357395036PRDM8c.725A>G (p.Glu242Gly)
c.728A>G (p.Glu243Gly)
c.1568A>G (p.Glu523Gly)
c.1565A>G (p.Glu522Gly)
c.1427A>G (p.Glu476Gly)
c.1280A>G (p.Glu427Gly)
c.1142A>G (p.Glu381Gly)
c.1121A>G (p.Glu374Gly)
c.1277A>G (p.Glu426Gly)
c.1364A>G (p.Glu455Gly)
4g.80202187A>TCA357395037PRDM8c.725A>T (p.Glu242Val)
c.728A>T (p.Glu243Val)
c.1568A>T (p.Glu523Val)
c.1565A>T (p.Glu522Val)
c.1427A>T (p.Glu476Val)
c.1280A>T (p.Glu427Val)
c.1142A>T (p.Glu381Val)
c.1121A>T (p.Glu374Val)
c.1277A>T (p.Glu426Val)
c.1364A>T (p.Glu455Val)
4g.80202189delCA2578127002PRDM8c.727del (p.Ser243AlafsTer?)
c.730del (p.Ser244AlafsTer?)
c.1570del (p.Ser524AlafsTer?)
c.1567del (p.Ser523AlafsTer?)
c.1429del (p.Ser477AlafsTer?)
c.1282del (p.Ser428AlafsTer?)
c.1144del (p.Ser382AlafsTer?)
c.1123del (p.Ser375AlafsTer?)
c.1279del (p.Ser427AlafsTer?)
c.1366del (p.Ser456AlafsTer?)
4g.80202188A>CCA357395039PRDM8c.726A>C (p.Glu242Asp)
c.729A>C (p.Glu243Asp)
c.1569A>C (p.Glu523Asp)
c.1566A>C (p.Glu522Asp)
c.1428A>C (p.Glu476Asp)
c.1281A>C (p.Glu427Asp)
c.1143A>C (p.Glu381Asp)
c.1122A>C (p.Glu374Asp)
c.1278A>C (p.Glu426Asp)
c.1365A>C (p.Glu455Asp)
4g.80202188A>GCA440226605PRDM8c.726A>G (p.Glu242=)
c.729A>G (p.Glu243=)
c.1569A>G (p.Glu523=)
c.1566A>G (p.Glu522=)
c.1428A>G (p.Glu476=)
c.1281A>G (p.Glu427=)
c.1143A>G (p.Glu381=)
c.1122A>G (p.Glu374=)
c.1278A>G (p.Glu426=)
c.1365A>G (p.Glu455=)
 gnomAD v4
4g.80202188A>TCA357395041PRDM8c.726A>T (p.Glu242Asp)
c.729A>T (p.Glu243Asp)
c.1569A>T (p.Glu523Asp)
c.1566A>T (p.Glu522Asp)
c.1428A>T (p.Glu476Asp)
c.1281A>T (p.Glu427Asp)
c.1143A>T (p.Glu381Asp)
c.1122A>T (p.Glu374Asp)
c.1278A>T (p.Glu426Asp)
c.1365A>T (p.Glu455Asp)
4g.80202189A>CCA357395051PRDM8c.727A>C (p.Ser243Arg)
c.730A>C (p.Ser244Arg)
c.1570A>C (p.Ser524Arg)
c.1567A>C (p.Ser523Arg)
c.1429A>C (p.Ser477Arg)
c.1282A>C (p.Ser428Arg)
c.1144A>C (p.Ser382Arg)
c.1123A>C (p.Ser375Arg)
c.1279A>C (p.Ser427Arg)
c.1366A>C (p.Ser456Arg)
4g.80202189A>GCA357395049PRDM8c.727A>G (p.Ser243Gly)
c.730A>G (p.Ser244Gly)
c.1570A>G (p.Ser524Gly)
c.1567A>G (p.Ser523Gly)
c.1429A>G (p.Ser477Gly)
c.1282A>G (p.Ser428Gly)
c.1144A>G (p.Ser382Gly)
c.1123A>G (p.Ser375Gly)
c.1279A>G (p.Ser427Gly)
c.1366A>G (p.Ser456Gly)
4g.80202189A>TCA357395044PRDM8c.727A>T (p.Ser243Cys)
c.730A>T (p.Ser244Cys)
c.1570A>T (p.Ser524Cys)
c.1567A>T (p.Ser523Cys)
c.1429A>T (p.Ser477Cys)
c.1282A>T (p.Ser428Cys)
c.1144A>T (p.Ser382Cys)
c.1123A>T (p.Ser375Cys)
c.1279A>T (p.Ser427Cys)
c.1366A>T (p.Ser456Cys)
4g.80202190G>ACA2982316PRDM8c.728G>A (p.Ser243Asn)
c.731G>A (p.Ser244Asn)
c.1571G>A (p.Ser524Asn)
c.1568G>A (p.Ser523Asn)
c.1430G>A (p.Ser477Asn)
c.1283G>A (p.Ser428Asn)
c.1145G>A (p.Ser382Asn)
c.1124G>A (p.Ser375Asn)
c.1280G>A (p.Ser427Asn)
c.1367G>A (p.Ser456Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.80202190G>CCA357395057PRDM8c.728G>C (p.Ser243Thr)
c.731G>C (p.Ser244Thr)
c.1571G>C (p.Ser524Thr)
c.1568G>C (p.Ser523Thr)
c.1430G>C (p.Ser477Thr)
c.1283G>C (p.Ser428Thr)
c.1145G>C (p.Ser382Thr)
c.1124G>C (p.Ser375Thr)
c.1280G>C (p.Ser427Thr)
c.1367G>C (p.Ser456Thr)
4g.80202190G=CA1471292518PRDM8c.728G= (p.Ser243=)
c.731G= (p.Ser244=)
c.1571G= (p.Ser524=)
c.1568G= (p.Ser523=)
c.1430G= (p.Ser477=)
c.1283G= (p.Ser428=)
c.1145G= (p.Ser382=)
c.1124G= (p.Ser375=)
c.1280G= (p.Ser427=)
c.1367G= (p.Ser456=)
4g.80202190G>TCA2982317PRDM8c.728G>T (p.Ser243Ile)
c.731G>T (p.Ser244Ile)
c.1571G>T (p.Ser524Ile)
c.1568G>T (p.Ser523Ile)
c.1430G>T (p.Ser477Ile)
c.1283G>T (p.Ser428Ile)
c.1145G>T (p.Ser382Ile)
c.1124G>T (p.Ser375Ile)
c.1280G>T (p.Ser427Ile)
c.1367G>T (p.Ser456Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.80202191C>ACA357395058PRDM8c.729C>A (p.Ser243Arg)
c.732C>A (p.Ser244Arg)
c.1572C>A (p.Ser524Arg)
c.1569C>A (p.Ser523Arg)
c.1431C>A (p.Ser477Arg)
c.1284C>A (p.Ser428Arg)
c.1146C>A (p.Ser382Arg)
c.1125C>A (p.Ser375Arg)
c.1281C>A (p.Ser427Arg)
c.1368C>A (p.Ser456Arg)
4g.80202191C=CA1471292524PRDM8c.729C= (p.Ser243=)
c.732C= (p.Ser244=)
c.1572C= (p.Ser524=)
c.1569C= (p.Ser523=)
c.1431C= (p.Ser477=)
c.1284C= (p.Ser428=)
c.1146C= (p.Ser382=)
c.1125C= (p.Ser375=)
c.1281C= (p.Ser427=)
c.1368C= (p.Ser456=)
4g.80202191C>GCA357395061PRDM8c.729C>G (p.Ser243Arg)
c.732C>G (p.Ser244Arg)
c.1572C>G (p.Ser524Arg)
c.1569C>G (p.Ser523Arg)
c.1431C>G (p.Ser477Arg)
c.1284C>G (p.Ser428Arg)
c.1146C>G (p.Ser382Arg)
c.1125C>G (p.Ser375Arg)
c.1281C>G (p.Ser427Arg)
c.1368C>G (p.Ser456Arg)
4g.80202191C>TCA2982318PRDM8c.729C>T (p.Ser243=)
c.732C>T (p.Ser244=)
c.1572C>T (p.Ser524=)
c.1569C>T (p.Ser523=)
c.1431C>T (p.Ser477=)
c.1284C>T (p.Ser428=)
c.1146C>T (p.Ser382=)
c.1125C>T (p.Ser375=)
c.1281C>T (p.Ser427=)
c.1368C>T (p.Ser456=)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.80202192A=CA1471292527PRDM8c.730A= (p.Ser244=)
c.733A= (p.Ser245=)
c.1573A= (p.Ser525=)
c.1570A= (p.Ser524=)
c.1432A= (p.Ser478=)
c.1285A= (p.Ser429=)
c.1147A= (p.Ser383=)
c.1126A= (p.Ser376=)
c.1282A= (p.Ser428=)
c.1369A= (p.Ser457=)
4g.80202192A>CCA357395064PRDM8c.730A>C (p.Ser244Arg)
c.733A>C (p.Ser245Arg)
c.1573A>C (p.Ser525Arg)
c.1570A>C (p.Ser524Arg)
c.1432A>C (p.Ser478Arg)
c.1285A>C (p.Ser429Arg)
c.1147A>C (p.Ser383Arg)
c.1126A>C (p.Ser376Arg)
c.1282A>C (p.Ser428Arg)
c.1369A>C (p.Ser457Arg)
4g.80202192A>GCA357395070PRDM8c.730A>G (p.Ser244Gly)
c.733A>G (p.Ser245Gly)
c.1573A>G (p.Ser525Gly)
c.1570A>G (p.Ser524Gly)
c.1432A>G (p.Ser478Gly)
c.1285A>G (p.Ser429Gly)
c.1147A>G (p.Ser383Gly)
c.1126A>G (p.Ser376Gly)
c.1282A>G (p.Ser428Gly)
c.1369A>G (p.Ser457Gly)
 dbSNP
4g.80202192A>TCA357395068PRDM8c.730A>T (p.Ser244Cys)
c.733A>T (p.Ser245Cys)
c.1573A>T (p.Ser525Cys)
c.1570A>T (p.Ser524Cys)
c.1432A>T (p.Ser478Cys)
c.1285A>T (p.Ser429Cys)
c.1147A>T (p.Ser383Cys)
c.1126A>T (p.Ser376Cys)
c.1282A>T (p.Ser428Cys)
c.1369A>T (p.Ser457Cys)
4g.80202193G>ACA357395073PRDM8c.731G>A (p.Ser244Asn)
c.734G>A (p.Ser245Asn)
c.1574G>A (p.Ser525Asn)
c.1571G>A (p.Ser524Asn)
c.1433G>A (p.Ser478Asn)
c.1286G>A (p.Ser429Asn)
c.1148G>A (p.Ser383Asn)
c.1127G>A (p.Ser376Asn)
c.1283G>A (p.Ser428Asn)
c.1370G>A (p.Ser457Asn)
4g.80202193G>CCA357395074PRDM8c.731G>C (p.Ser244Thr)
c.734G>C (p.Ser245Thr)
c.1574G>C (p.Ser525Thr)
c.1571G>C (p.Ser524Thr)
c.1433G>C (p.Ser478Thr)
c.1286G>C (p.Ser429Thr)
c.1148G>C (p.Ser383Thr)
c.1127G>C (p.Ser376Thr)
c.1283G>C (p.Ser428Thr)
c.1370G>C (p.Ser457Thr)
 gnomAD v4
4g.80202193G>TCA357395078PRDM8c.731G>T (p.Ser244Ile)
c.734G>T (p.Ser245Ile)
c.1574G>T (p.Ser525Ile)
c.1571G>T (p.Ser524Ile)
c.1433G>T (p.Ser478Ile)
c.1286G>T (p.Ser429Ile)
c.1148G>T (p.Ser383Ile)
c.1127G>T (p.Ser376Ile)
c.1283G>T (p.Ser428Ile)
c.1370G>T (p.Ser457Ile)
4g.80202194C>ACA357395079PRDM8c.732C>A (p.Ser244Arg)
c.735C>A (p.Ser245Arg)
c.1575C>A (p.Ser525Arg)
c.1572C>A (p.Ser524Arg)
c.1434C>A (p.Ser478Arg)
c.1287C>A (p.Ser429Arg)
c.1149C>A (p.Ser383Arg)
c.1128C>A (p.Ser376Arg)
c.1284C>A (p.Ser428Arg)
c.1371C>A (p.Ser457Arg)
 gnomAD v4
4g.80202194C=CA1471292530PRDM8c.732C= (p.Ser244=)
c.735C= (p.Ser245=)
c.1575C= (p.Ser525=)
c.1572C= (p.Ser524=)
c.1434C= (p.Ser478=)
c.1287C= (p.Ser429=)
c.1149C= (p.Ser383=)
c.1128C= (p.Ser376=)
c.1284C= (p.Ser428=)
c.1371C= (p.Ser457=)
4g.80202194C>GCA357395081PRDM8c.732C>G (p.Ser244Arg)
c.735C>G (p.Ser245Arg)
c.1575C>G (p.Ser525Arg)
c.1572C>G (p.Ser524Arg)
c.1434C>G (p.Ser478Arg)
c.1287C>G (p.Ser429Arg)
c.1149C>G (p.Ser383Arg)
c.1128C>G (p.Ser376Arg)
c.1284C>G (p.Ser428Arg)
c.1371C>G (p.Ser457Arg)
4g.80202194C>TCA440226608PRDM8c.732C>T (p.Ser244=)
c.735C>T (p.Ser245=)
c.1575C>T (p.Ser525=)
c.1572C>T (p.Ser524=)
c.1434C>T (p.Ser478=)
c.1287C>T (p.Ser429=)
c.1149C>T (p.Ser383=)
c.1128C>T (p.Ser376=)
c.1284C>T (p.Ser428=)
c.1371C>T (p.Ser457=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.80202195A>CCA357395084PRDM8c.733A>C (p.Asn245His)
c.736A>C (p.Asn246His)
c.1576A>C (p.Asn526His)
c.1573A>C (p.Asn525His)
c.1435A>C (p.Asn479His)
c.1288A>C (p.Asn430His)
c.1150A>C (p.Asn384His)
c.1129A>C (p.Asn377His)
c.1285A>C (p.Asn429His)
c.1372A>C (p.Asn458His)
4g.80202195A>GCA357395085PRDM8c.733A>G (p.Asn245Asp)
c.736A>G (p.Asn246Asp)
c.1576A>G (p.Asn526Asp)
c.1573A>G (p.Asn525Asp)
c.1435A>G (p.Asn479Asp)
c.1288A>G (p.Asn430Asp)
c.1150A>G (p.Asn384Asp)
c.1129A>G (p.Asn377Asp)
c.1285A>G (p.Asn429Asp)
c.1372A>G (p.Asn458Asp)
 gnomAD v4
4g.80202195A>TCA357395087PRDM8c.733A>T (p.Asn245Tyr)
c.736A>T (p.Asn246Tyr)
c.1576A>T (p.Asn526Tyr)
c.1573A>T (p.Asn525Tyr)
c.1435A>T (p.Asn479Tyr)
c.1288A>T (p.Asn430Tyr)
c.1150A>T (p.Asn384Tyr)
c.1129A>T (p.Asn377Tyr)
c.1285A>T (p.Asn429Tyr)
c.1372A>T (p.Asn458Tyr)
4g.80202196A=CA1471292532PRDM8c.734A= (p.Asn245=)
c.737A= (p.Asn246=)
c.1577A= (p.Asn526=)
c.1574A= (p.Asn525=)
c.1436A= (p.Asn479=)
c.1289A= (p.Asn430=)
c.1151A= (p.Asn384=)
c.1130A= (p.Asn377=)
c.1286A= (p.Asn429=)
c.1373A= (p.Asn458=)
4g.80202196A>CCA357395089PRDM8c.734A>C (p.Asn245Thr)
c.737A>C (p.Asn246Thr)
c.1577A>C (p.Asn526Thr)
c.1574A>C (p.Asn525Thr)
c.1436A>C (p.Asn479Thr)
c.1289A>C (p.Asn430Thr)
c.1151A>C (p.Asn384Thr)
c.1130A>C (p.Asn377Thr)
c.1286A>C (p.Asn429Thr)
c.1373A>C (p.Asn458Thr)
 dbSNP
4g.80202196A>GCA357395097PRDM8c.734A>G (p.Asn245Ser)
c.737A>G (p.Asn246Ser)
c.1577A>G (p.Asn526Ser)
c.1574A>G (p.Asn525Ser)
c.1436A>G (p.Asn479Ser)
c.1289A>G (p.Asn430Ser)
c.1151A>G (p.Asn384Ser)
c.1130A>G (p.Asn377Ser)
c.1286A>G (p.Asn429Ser)
c.1373A>G (p.Asn458Ser)
4g.80202196A>TCA357395099PRDM8c.734A>T (p.Asn245Ile)
c.737A>T (p.Asn246Ile)
c.1577A>T (p.Asn526Ile)
c.1574A>T (p.Asn525Ile)
c.1436A>T (p.Asn479Ile)
c.1289A>T (p.Asn430Ile)
c.1151A>T (p.Asn384Ile)
c.1130A>T (p.Asn377Ile)
c.1286A>T (p.Asn429Ile)
c.1373A>T (p.Asn458Ile)
4g.80202197C>ACA357395101PRDM8c.735C>A (p.Asn245Lys)
c.738C>A (p.Asn246Lys)
c.1578C>A (p.Asn526Lys)
c.1575C>A (p.Asn525Lys)
c.1437C>A (p.Asn479Lys)
c.1290C>A (p.Asn430Lys)
c.1152C>A (p.Asn384Lys)
c.1131C>A (p.Asn377Lys)
c.1287C>A (p.Asn429Lys)
c.1374C>A (p.Asn458Lys)
4g.80202197C=CA1471292535PRDM8c.735C= (p.Asn245=)
c.738C= (p.Asn246=)
c.1578C= (p.Asn526=)
c.1575C= (p.Asn525=)
c.1437C= (p.Asn479=)
c.1290C= (p.Asn430=)
c.1152C= (p.Asn384=)
c.1131C= (p.Asn377=)
c.1287C= (p.Asn429=)
c.1374C= (p.Asn458=)
4g.80202197C>GCA357395102PRDM8c.735C>G (p.Asn245Lys)
c.738C>G (p.Asn246Lys)
c.1578C>G (p.Asn526Lys)
c.1575C>G (p.Asn525Lys)
c.1437C>G (p.Asn479Lys)
c.1290C>G (p.Asn430Lys)
c.1152C>G (p.Asn384Lys)
c.1131C>G (p.Asn377Lys)
c.1287C>G (p.Asn429Lys)
c.1374C>G (p.Asn458Lys)
 gnomAD v4
4g.80202197C>TCA440226609PRDM8c.735C>T (p.Asn245=)
c.738C>T (p.Asn246=)
c.1578C>T (p.Asn526=)
c.1575C>T (p.Asn525=)
c.1437C>T (p.Asn479=)
c.1290C>T (p.Asn430=)
c.1152C>T (p.Asn384=)
c.1131C>T (p.Asn377=)
c.1287C>T (p.Asn429=)
c.1374C>T (p.Asn458=)
 dbSNP gnomAD v2 gnomAD v4
4g.80202198C>ACA357395104PRDM8c.736C>A (p.Pro246Thr)
c.739C>A (p.Pro247Thr)
c.1579C>A (p.Pro527Thr)
c.1576C>A (p.Pro526Thr)
c.1438C>A (p.Pro480Thr)
c.1291C>A (p.Pro431Thr)
c.1153C>A (p.Pro385Thr)
c.1132C>A (p.Pro378Thr)
c.1288C>A (p.Pro430Thr)
c.1375C>A (p.Pro459Thr)
 ClinVar dbSNP gnomAD v4
4g.80202198C=CA1471292539PRDM8c.736C= (p.Pro246=)
c.739C= (p.Pro247=)
c.1579C= (p.Pro527=)
c.1576C= (p.Pro526=)
c.1438C= (p.Pro480=)
c.1291C= (p.Pro431=)
c.1153C= (p.Pro385=)
c.1132C= (p.Pro378=)
c.1288C= (p.Pro430=)
c.1375C= (p.Pro459=)
4g.80202198C>GCA357395106PRDM8c.736C>G (p.Pro246Ala)
c.739C>G (p.Pro247Ala)
c.1579C>G (p.Pro527Ala)
c.1576C>G (p.Pro526Ala)
c.1438C>G (p.Pro480Ala)
c.1291C>G (p.Pro431Ala)
c.1153C>G (p.Pro385Ala)
c.1132C>G (p.Pro378Ala)
c.1288C>G (p.Pro430Ala)
c.1375C>G (p.Pro459Ala)
 dbSNP gnomAD v3 gnomAD v4
4g.80202198C>TCA357395103PRDM8c.736C>T (p.Pro246Ser)
c.739C>T (p.Pro247Ser)
c.1579C>T (p.Pro527Ser)
c.1576C>T (p.Pro526Ser)
c.1438C>T (p.Pro480Ser)
c.1291C>T (p.Pro431Ser)
c.1153C>T (p.Pro385Ser)
c.1132C>T (p.Pro378Ser)
c.1288C>T (p.Pro430Ser)
c.1375C>T (p.Pro459Ser)
 ClinVar dbSNP gnomAD v4
4g.80202199C>ACA357395108PRDM8c.737C>A (p.Pro246Gln)
c.740C>A (p.Pro247Gln)
c.1580C>A (p.Pro527Gln)
c.1577C>A (p.Pro526Gln)
c.1439C>A (p.Pro480Gln)
c.1292C>A (p.Pro431Gln)
c.1154C>A (p.Pro385Gln)
c.1133C>A (p.Pro378Gln)
c.1289C>A (p.Pro430Gln)
c.1376C>A (p.Pro459Gln)
4g.80202199C>GCA357395111PRDM8c.737C>G (p.Pro246Arg)
c.740C>G (p.Pro247Arg)
c.1580C>G (p.Pro527Arg)
c.1577C>G (p.Pro526Arg)
c.1439C>G (p.Pro480Arg)
c.1292C>G (p.Pro431Arg)
c.1154C>G (p.Pro385Arg)
c.1133C>G (p.Pro378Arg)
c.1289C>G (p.Pro430Arg)
c.1376C>G (p.Pro459Arg)
4g.80202199C>TCA357395112PRDM8c.737C>T (p.Pro246Leu)
c.740C>T (p.Pro247Leu)
c.1580C>T (p.Pro527Leu)
c.1577C>T (p.Pro526Leu)
c.1439C>T (p.Pro480Leu)
c.1292C>T (p.Pro431Leu)
c.1154C>T (p.Pro385Leu)
c.1133C>T (p.Pro378Leu)
c.1289C>T (p.Pro430Leu)
c.1376C>T (p.Pro459Leu)
 gnomAD v4
4g.80202200A=CA1471292544PRDM8c.738A= (p.Pro246=)
c.741A= (p.Pro247=)
c.1581A= (p.Pro527=)
c.1578A= (p.Pro526=)
c.1440A= (p.Pro480=)
c.1293A= (p.Pro431=)
c.1155A= (p.Pro385=)
c.1134A= (p.Pro378=)
c.1290A= (p.Pro430=)
c.1377A= (p.Pro459=)
4g.80202200A>CCA440226613PRDM8c.738A>C (p.Pro246=)
c.741A>C (p.Pro247=)
c.1581A>C (p.Pro527=)
c.1578A>C (p.Pro526=)
c.1440A>C (p.Pro480=)
c.1293A>C (p.Pro431=)
c.1155A>C (p.Pro385=)
c.1134A>C (p.Pro378=)
c.1290A>C (p.Pro430=)
c.1377A>C (p.Pro459=)
 dbSNP gnomAD v3 gnomAD v4
4g.80202200A>GCA440226614PRDM8c.738A>G (p.Pro246=)
c.741A>G (p.Pro247=)
c.1581A>G (p.Pro527=)
c.1578A>G (p.Pro526=)
c.1440A>G (p.Pro480=)
c.1293A>G (p.Pro431=)
c.1155A>G (p.Pro385=)
c.1134A>G (p.Pro378=)
c.1290A>G (p.Pro430=)
c.1377A>G (p.Pro459=)
 COSMIC
4g.80202200A>TCA440226615PRDM8c.738A>T (p.Pro246=)
c.741A>T (p.Pro247=)
c.1581A>T (p.Pro527=)
c.1578A>T (p.Pro526=)
c.1440A>T (p.Pro480=)
c.1293A>T (p.Pro431=)
c.1155A>T (p.Pro385=)
c.1134A>T (p.Pro378=)
c.1290A>T (p.Pro430=)
c.1377A>T (p.Pro459=)
4g.80202201T>ACA357395117PRDM8c.739T>A (p.Ser247Thr)
c.742T>A (p.Ser248Thr)
c.1582T>A (p.Ser528Thr)
c.1579T>A (p.Ser527Thr)
c.1441T>A (p.Ser481Thr)
c.1294T>A (p.Ser432Thr)
c.1156T>A (p.Ser386Thr)
c.1135T>A (p.Ser379Thr)
c.1291T>A (p.Ser431Thr)
c.1378T>A (p.Ser460Thr)
4g.80202201T>CCA357395123PRDM8c.739T>C (p.Ser247Pro)
c.742T>C (p.Ser248Pro)
c.1582T>C (p.Ser528Pro)
c.1579T>C (p.Ser527Pro)
c.1441T>C (p.Ser481Pro)
c.1294T>C (p.Ser432Pro)
c.1156T>C (p.Ser386Pro)
c.1135T>C (p.Ser379Pro)
c.1291T>C (p.Ser431Pro)
c.1378T>C (p.Ser460Pro)
 dbSNP gnomAD v4
4g.80202201T>GCA357395124PRDM8c.739T>G (p.Ser247Ala)
c.742T>G (p.Ser248Ala)
c.1582T>G (p.Ser528Ala)
c.1579T>G (p.Ser527Ala)
c.1441T>G (p.Ser481Ala)
c.1294T>G (p.Ser432Ala)
c.1156T>G (p.Ser386Ala)
c.1135T>G (p.Ser379Ala)
c.1291T>G (p.Ser431Ala)
c.1378T>G (p.Ser460Ala)
4g.80202202C>ACA2982319PRDM8c.740C>A (p.Ser247Tyr)
c.743C>A (p.Ser248Tyr)
c.1583C>A (p.Ser528Tyr)
c.1580C>A (p.Ser527Tyr)
c.1442C>A (p.Ser481Tyr)
c.1295C>A (p.Ser432Tyr)
c.1157C>A (p.Ser386Tyr)
c.1136C>A (p.Ser379Tyr)
c.1292C>A (p.Ser431Tyr)
c.1379C>A (p.Ser460Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.80202202C=CA1471292553PRDM8c.740C= (p.Ser247=)
c.743C= (p.Ser248=)
c.1583C= (p.Ser528=)
c.1580C= (p.Ser527=)
c.1442C= (p.Ser481=)
c.1295C= (p.Ser432=)
c.1157C= (p.Ser386=)
c.1136C= (p.Ser379=)
c.1292C= (p.Ser431=)
c.1379C= (p.Ser460=)
4g.80202202C>GCA357395125PRDM8c.740C>G (p.Ser247Cys)
c.743C>G (p.Ser248Cys)
c.1583C>G (p.Ser528Cys)
c.1580C>G (p.Ser527Cys)
c.1442C>G (p.Ser481Cys)
c.1295C>G (p.Ser432Cys)
c.1157C>G (p.Ser386Cys)
c.1136C>G (p.Ser379Cys)
c.1292C>G (p.Ser431Cys)
c.1379C>G (p.Ser460Cys)
 ClinVar dbSNP
4g.80202202C>TCA100000230PRDM8c.740C>T (p.Ser247Phe)
c.743C>T (p.Ser248Phe)
c.1583C>T (p.Ser528Phe)
c.1580C>T (p.Ser527Phe)
c.1442C>T (p.Ser481Phe)
c.1295C>T (p.Ser432Phe)
c.1157C>T (p.Ser386Phe)
c.1136C>T (p.Ser379Phe)
c.1292C>T (p.Ser431Phe)
c.1379C>T (p.Ser460Phe)
 dbSNP gnomAD v3 gnomAD v4
4g.80202203C>ACA440226619PRDM8c.741C>A (p.Ser247=)
c.744C>A (p.Ser248=)
c.1584C>A (p.Ser528=)
c.1581C>A (p.Ser527=)
c.1443C>A (p.Ser481=)
c.1296C>A (p.Ser432=)
c.1158C>A (p.Ser386=)
c.1137C>A (p.Ser379=)
c.1293C>A (p.Ser431=)
c.1380C>A (p.Ser460=)
4g.80202203C=CA1471292558PRDM8c.741C= (p.Ser247=)
c.744C= (p.Ser248=)
c.1584C= (p.Ser528=)
c.1581C= (p.Ser527=)
c.1443C= (p.Ser481=)
c.1296C= (p.Ser432=)
c.1158C= (p.Ser386=)
c.1137C= (p.Ser379=)
c.1293C= (p.Ser431=)
c.1380C= (p.Ser460=)
4g.80202203C>GCA440226618PRDM8c.741C>G (p.Ser247=)
c.744C>G (p.Ser248=)
c.1584C>G (p.Ser528=)
c.1581C>G (p.Ser527=)
c.1443C>G (p.Ser481=)
c.1296C>G (p.Ser432=)
c.1158C>G (p.Ser386=)
c.1137C>G (p.Ser379=)
c.1293C>G (p.Ser431=)
c.1380C>G (p.Ser460=)
 dbSNP gnomAD v2 gnomAD v4
4g.80202203C>TCA440226617PRDM8c.741C>T (p.Ser247=)
c.744C>T (p.Ser248=)
c.1584C>T (p.Ser528=)
c.1581C>T (p.Ser527=)
c.1443C>T (p.Ser481=)
c.1296C>T (p.Ser432=)
c.1158C>T (p.Ser386=)
c.1137C>T (p.Ser379=)
c.1293C>T (p.Ser431=)
c.1380C>T (p.Ser460=)
 dbSNP gnomAD v4
4g.80202204_80202211delCA2671177772PRDM8c.742_749del (p.Ala248ArgfsTer?)
c.745_752del (p.Ala249ArgfsTer?)
c.1585_1592del (p.Ala529ArgfsTer?)
c.1582_1589del (p.Ala528ArgfsTer?)
c.1444_1451del (p.Ala482ArgfsTer?)
c.1297_1304del (p.Ala433ArgfsTer?)
c.1159_1166del (p.Ala387ArgfsTer?)
c.1138_1145del (p.Ala380ArgfsTer?)
c.1294_1301del (p.Ala432ArgfsTer?)
c.1381_1388del (p.Ala461ArgfsTer?)
 gnomAD v4
4g.80202204G>ACA2982320PRDM8c.742G>A (p.Ala248Thr)
c.745G>A (p.Ala249Thr)
c.1585G>A (p.Ala529Thr)
c.1582G>A (p.Ala528Thr)
c.1444G>A (p.Ala482Thr)
c.1297G>A (p.Ala433Thr)
c.1159G>A (p.Ala387Thr)
c.1138G>A (p.Ala380Thr)
c.1294G>A (p.Ala432Thr)
c.1381G>A (p.Ala461Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.80202204G>CCA357395126PRDM8c.742G>C (p.Ala248Pro)
c.745G>C (p.Ala249Pro)
c.1585G>C (p.Ala529Pro)
c.1582G>C (p.Ala528Pro)
c.1444G>C (p.Ala482Pro)
c.1297G>C (p.Ala433Pro)
c.1159G>C (p.Ala387Pro)
c.1138G>C (p.Ala380Pro)
c.1294G>C (p.Ala432Pro)
c.1381G>C (p.Ala461Pro)
4g.80202204G=CA1471292562PRDM8c.742G= (p.Ala248=)
c.745G= (p.Ala249=)
c.1585G= (p.Ala529=)
c.1582G= (p.Ala528=)
c.1444G= (p.Ala482=)
c.1297G= (p.Ala433=)
c.1159G= (p.Ala387=)
c.1138G= (p.Ala380=)
c.1294G= (p.Ala432=)
c.1381G= (p.Ala461=)
4g.80202204G>TCA357395127PRDM8c.742G>T (p.Ala248Ser)
c.745G>T (p.Ala249Ser)
c.1585G>T (p.Ala529Ser)
c.1582G>T (p.Ala528Ser)
c.1444G>T (p.Ala482Ser)
c.1297G>T (p.Ala433Ser)
c.1159G>T (p.Ala387Ser)
c.1138G>T (p.Ala380Ser)
c.1294G>T (p.Ala432Ser)
c.1381G>T (p.Ala461Ser)
4g.80202206_80202208dupCA2578127003PRDM8c.744_746dup (p.Ala249_Ala250insAla)
c.747_749dup (p.Ala250_Ala251insAla)
c.1587_1589dup (p.Ala530_Ala531insAla)
c.1584_1586dup (p.Ala529_Ala530insAla)
c.1446_1448dup (p.Ala483_Ala484insAla)
c.1299_1301dup (p.Ala434_Ala435insAla)
c.1161_1163dup (p.Ala388_Ala389insAla)
c.1140_1142dup (p.Ala381_Ala382insAla)
c.1296_1298dup (p.Ala433_Ala434insAla)
c.1383_1385dup (p.Ala462_Ala463insAla)
4g.80202205C>ACA357395128PRDM8c.743C>A (p.Ala248Asp)
c.746C>A (p.Ala249Asp)
c.1586C>A (p.Ala529Asp)
c.1583C>A (p.Ala528Asp)
c.1445C>A (p.Ala482Asp)
c.1298C>A (p.Ala433Asp)
c.1160C>A (p.Ala387Asp)
c.1139C>A (p.Ala380Asp)
c.1295C>A (p.Ala432Asp)
c.1382C>A (p.Ala461Asp)
4g.80202205C=CA1471292565PRDM8c.743C= (p.Ala248=)
c.746C= (p.Ala249=)
c.1586C= (p.Ala529=)
c.1583C= (p.Ala528=)
c.1445C= (p.Ala482=)
c.1298C= (p.Ala433=)
c.1160C= (p.Ala387=)
c.1139C= (p.Ala380=)
c.1295C= (p.Ala432=)
c.1382C= (p.Ala461=)
4g.80202205C>GCA357395129PRDM8c.743C>G (p.Ala248Gly)
c.746C>G (p.Ala249Gly)
c.1586C>G (p.Ala529Gly)
c.1583C>G (p.Ala528Gly)
c.1445C>G (p.Ala482Gly)
c.1298C>G (p.Ala433Gly)
c.1160C>G (p.Ala387Gly)
c.1139C>G (p.Ala380Gly)
c.1295C>G (p.Ala432Gly)
c.1382C>G (p.Ala461Gly)
 gnomAD v4
4g.80202205C>TCA357395130PRDM8c.743C>T (p.Ala248Val)
c.746C>T (p.Ala249Val)
c.1586C>T (p.Ala529Val)
c.1583C>T (p.Ala528Val)
c.1445C>T (p.Ala482Val)
c.1298C>T (p.Ala433Val)
c.1160C>T (p.Ala387Val)
c.1139C>T (p.Ala380Val)
c.1295C>T (p.Ala432Val)
c.1382C>T (p.Ala461Val)
 dbSNP gnomAD v2 gnomAD v4
4g.80202206T>ACA440226623PRDM8c.744T>A (p.Ala248=)
c.747T>A (p.Ala249=)
c.1587T>A (p.Ala529=)
c.1584T>A (p.Ala528=)
c.1446T>A (p.Ala482=)
c.1299T>A (p.Ala433=)
c.1161T>A (p.Ala387=)
c.1140T>A (p.Ala380=)
c.1296T>A (p.Ala432=)
c.1383T>A (p.Ala461=)
4g.80202206T>CCA440226624PRDM8c.744T>C (p.Ala248=)
c.747T>C (p.Ala249=)
c.1587T>C (p.Ala529=)
c.1584T>C (p.Ala528=)
c.1446T>C (p.Ala482=)
c.1299T>C (p.Ala433=)
c.1161T>C (p.Ala387=)
c.1140T>C (p.Ala380=)
c.1296T>C (p.Ala432=)
c.1383T>C (p.Ala461=)
 gnomAD v4
4g.80202206T>GCA440226625PRDM8c.744T>G (p.Ala248=)
c.747T>G (p.Ala249=)
c.1587T>G (p.Ala529=)
c.1584T>G (p.Ala528=)
c.1446T>G (p.Ala482=)
c.1299T>G (p.Ala433=)
c.1161T>G (p.Ala387=)
c.1140T>G (p.Ala380=)
c.1296T>G (p.Ala432=)
c.1383T>G (p.Ala461=)
4g.80202207G>ACA357395131PRDM8c.745G>A (p.Ala249Thr)
c.748G>A (p.Ala250Thr)
c.1588G>A (p.Ala530Thr)
c.1585G>A (p.Ala529Thr)
c.1447G>A (p.Ala483Thr)
c.1300G>A (p.Ala434Thr)
c.1162G>A (p.Ala388Thr)
c.1141G>A (p.Ala381Thr)
c.1297G>A (p.Ala433Thr)
c.1384G>A (p.Ala462Thr)
 gnomAD v4
4g.80202207G>CCA357395133PRDM8c.745G>C (p.Ala249Pro)
c.748G>C (p.Ala250Pro)
c.1588G>C (p.Ala530Pro)
c.1585G>C (p.Ala529Pro)
c.1447G>C (p.Ala483Pro)
c.1300G>C (p.Ala434Pro)
c.1162G>C (p.Ala388Pro)
c.1141G>C (p.Ala381Pro)
c.1297G>C (p.Ala433Pro)
c.1384G>C (p.Ala462Pro)
4g.80202207G>TCA357395132PRDM8c.745G>T (p.Ala249Ser)
c.748G>T (p.Ala250Ser)
c.1588G>T (p.Ala530Ser)
c.1585G>T (p.Ala529Ser)
c.1447G>T (p.Ala483Ser)
c.1300G>T (p.Ala434Ser)
c.1162G>T (p.Ala388Ser)
c.1141G>T (p.Ala381Ser)
c.1297G>T (p.Ala433Ser)
c.1384G>T (p.Ala462Ser)
4g.80202208C>ACA357395134PRDM8c.746C>A (p.Ala249Asp)
c.749C>A (p.Ala250Asp)
c.1589C>A (p.Ala530Asp)
c.1586C>A (p.Ala529Asp)
c.1448C>A (p.Ala483Asp)
c.1301C>A (p.Ala434Asp)
c.1163C>A (p.Ala388Asp)
c.1142C>A (p.Ala381Asp)
c.1298C>A (p.Ala433Asp)
c.1385C>A (p.Ala462Asp)
4g.80202208C=CA1471292569PRDM8c.746C= (p.Ala249=)
c.749C= (p.Ala250=)
c.1589C= (p.Ala530=)
c.1586C= (p.Ala529=)
c.1448C= (p.Ala483=)
c.1301C= (p.Ala434=)
c.1163C= (p.Ala388=)
c.1142C= (p.Ala381=)
c.1298C= (p.Ala433=)
c.1385C= (p.Ala462=)
4g.80202208C>GCA357395135PRDM8c.746C>G (p.Ala249Gly)
c.749C>G (p.Ala250Gly)
c.1589C>G (p.Ala530Gly)
c.1586C>G (p.Ala529Gly)
c.1448C>G (p.Ala483Gly)
c.1301C>G (p.Ala434Gly)
c.1163C>G (p.Ala388Gly)
c.1142C>G (p.Ala381Gly)
c.1298C>G (p.Ala433Gly)
c.1385C>G (p.Ala462Gly)
4g.80202208C>TCA357395136PRDM8c.746C>T (p.Ala249Val)
c.749C>T (p.Ala250Val)
c.1589C>T (p.Ala530Val)
c.1586C>T (p.Ala529Val)
c.1448C>T (p.Ala483Val)
c.1301C>T (p.Ala434Val)
c.1163C>T (p.Ala388Val)
c.1142C>T (p.Ala381Val)
c.1298C>T (p.Ala433Val)
c.1385C>T (p.Ala462Val)
 dbSNP gnomAD v4
4g.80202209C>ACA440226629PRDM8c.747C>A (p.Ala249=)
c.750C>A (p.Ala250=)
c.1590C>A (p.Ala530=)
c.1587C>A (p.Ala529=)
c.1449C>A (p.Ala483=)
c.1302C>A (p.Ala434=)
c.1164C>A (p.Ala388=)
c.1143C>A (p.Ala381=)
c.1299C>A (p.Ala433=)
c.1386C>A (p.Ala462=)
4g.80202209C=CA1471292574PRDM8c.747C= (p.Ala249=)
c.750C= (p.Ala250=)
c.1590C= (p.Ala530=)
c.1587C= (p.Ala529=)
c.1449C= (p.Ala483=)
c.1302C= (p.Ala434=)
c.1164C= (p.Ala388=)
c.1143C= (p.Ala381=)
c.1299C= (p.Ala433=)
c.1386C= (p.Ala462=)
4g.80202209C>GCA440226631PRDM8c.747C>G (p.Ala249=)
c.750C>G (p.Ala250=)
c.1590C>G (p.Ala530=)
c.1587C>G (p.Ala529=)
c.1449C>G (p.Ala483=)
c.1302C>G (p.Ala434=)
c.1164C>G (p.Ala388=)
c.1143C>G (p.Ala381=)
c.1299C>G (p.Ala433=)
c.1386C>G (p.Ala462=)
 ClinVar dbSNP gnomAD v4
4g.80202209C>TCA440226630PRDM8c.747C>T (p.Ala249=)
c.750C>T (p.Ala250=)
c.1590C>T (p.Ala530=)
c.1587C>T (p.Ala529=)
c.1449C>T (p.Ala483=)
c.1302C>T (p.Ala434=)
c.1164C>T (p.Ala388=)
c.1143C>T (p.Ala381=)
c.1299C>T (p.Ala433=)
c.1386C>T (p.Ala462=)
 ClinVar
4g.80202210G>ACA357395137PRDM8c.748G>A (p.Ala250Thr)
c.751G>A (p.Ala251Thr)
c.1591G>A (p.Ala531Thr)
c.1588G>A (p.Ala530Thr)
c.1450G>A (p.Ala484Thr)
c.1303G>A (p.Ala435Thr)
c.1165G>A (p.Ala389Thr)
c.1144G>A (p.Ala382Thr)
c.1300G>A (p.Ala434Thr)
c.1387G>A (p.Ala463Thr)
4g.80202210G>CCA357395138PRDM8c.748G>C (p.Ala250Pro)
c.751G>C (p.Ala251Pro)
c.1591G>C (p.Ala531Pro)
c.1588G>C (p.Ala530Pro)
c.1450G>C (p.Ala484Pro)
c.1303G>C (p.Ala435Pro)
c.1165G>C (p.Ala389Pro)
c.1144G>C (p.Ala382Pro)
c.1300G>C (p.Ala434Pro)
c.1387G>C (p.Ala463Pro)
4g.80202210G=CA1471292576PRDM8c.748G= (p.Ala250=)
c.751G= (p.Ala251=)
c.1591G= (p.Ala531=)
c.1588G= (p.Ala530=)
c.1450G= (p.Ala484=)
c.1303G= (p.Ala435=)
c.1165G= (p.Ala389=)
c.1144G= (p.Ala382=)
c.1300G= (p.Ala434=)
c.1387G= (p.Ala463=)
4g.80202210G>TCA357395139PRDM8c.748G>T (p.Ala250Ser)
c.751G>T (p.Ala251Ser)
c.1591G>T (p.Ala531Ser)
c.1588G>T (p.Ala530Ser)
c.1450G>T (p.Ala484Ser)
c.1303G>T (p.Ala435Ser)
c.1165G>T (p.Ala389Ser)
c.1144G>T (p.Ala382Ser)
c.1300G>T (p.Ala434Ser)
c.1387G>T (p.Ala463Ser)
 dbSNP gnomAD v4
4g.80202211C>ACA357395140PRDM8c.749C>A (p.Ala250Asp)
c.752C>A (p.Ala251Asp)
c.1592C>A (p.Ala531Asp)
c.1589C>A (p.Ala530Asp)
c.1451C>A (p.Ala484Asp)
c.1304C>A (p.Ala435Asp)
c.1166C>A (p.Ala389Asp)
c.1145C>A (p.Ala382Asp)
c.1301C>A (p.Ala434Asp)
c.1388C>A (p.Ala463Asp)
4g.80202211C=CA1471292580PRDM8c.749C= (p.Ala250=)
c.752C= (p.Ala251=)
c.1592C= (p.Ala531=)
c.1589C= (p.Ala530=)
c.1451C= (p.Ala484=)
c.1304C= (p.Ala435=)
c.1166C= (p.Ala389=)
c.1145C= (p.Ala382=)
c.1301C= (p.Ala434=)
c.1388C= (p.Ala463=)
4g.80202211C>GCA357395141PRDM8c.749C>G (p.Ala250Gly)
c.752C>G (p.Ala251Gly)
c.1592C>G (p.Ala531Gly)
c.1589C>G (p.Ala530Gly)
c.1451C>G (p.Ala484Gly)
c.1304C>G (p.Ala435Gly)
c.1166C>G (p.Ala389Gly)
c.1145C>G (p.Ala382Gly)
c.1301C>G (p.Ala434Gly)
c.1388C>G (p.Ala463Gly)
4g.80202211C>TCA100000268PRDM8c.749C>T (p.Ala250Val)
c.752C>T (p.Ala251Val)
c.1592C>T (p.Ala531Val)
c.1589C>T (p.Ala530Val)
c.1451C>T (p.Ala484Val)
c.1304C>T (p.Ala435Val)
c.1166C>T (p.Ala389Val)
c.1145C>T (p.Ala382Val)
c.1301C>T (p.Ala434Val)
c.1388C>T (p.Ala463Val)
 dbSNP gnomAD v3 gnomAD v4
4g.80202212C>ACA440226634PRDM8c.750C>A (p.Ala250=)
c.753C>A (p.Ala251=)
c.1593C>A (p.Ala531=)
c.1590C>A (p.Ala530=)
c.1452C>A (p.Ala484=)
c.1305C>A (p.Ala435=)
c.1167C>A (p.Ala389=)
c.1146C>A (p.Ala382=)
c.1302C>A (p.Ala434=)
c.1389C>A (p.Ala463=)
4g.80202212C=CA1471292586PRDM8c.750C= (p.Ala250=)
c.753C= (p.Ala251=)
c.1593C= (p.Ala531=)
c.1590C= (p.Ala530=)
c.1452C= (p.Ala484=)
c.1305C= (p.Ala435=)
c.1167C= (p.Ala389=)
c.1146C= (p.Ala382=)
c.1302C= (p.Ala434=)
c.1389C= (p.Ala463=)
4g.80202212C>GCA440226635PRDM8c.750C>G (p.Ala250=)
c.753C>G (p.Ala251=)
c.1593C>G (p.Ala531=)
c.1590C>G (p.Ala530=)
c.1452C>G (p.Ala484=)
c.1305C>G (p.Ala435=)
c.1167C>G (p.Ala389=)
c.1146C>G (p.Ala382=)
c.1302C>G (p.Ala434=)
c.1389C>G (p.Ala463=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.80202212C>TCA440226636PRDM8c.750C>T (p.Ala250=)
c.753C>T (p.Ala251=)
c.1593C>T (p.Ala531=)
c.1590C>T (p.Ala530=)
c.1452C>T (p.Ala484=)
c.1305C>T (p.Ala435=)
c.1167C>T (p.Ala389=)
c.1146C>T (p.Ala382=)
c.1302C>T (p.Ala434=)
c.1389C>T (p.Ala463=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
4g.80202216_80202218dupCA2671177773PRDM8c.754_756dup (p.Gly252_Ser253insGly)
c.757_759dup (p.Gly253_Ser254insGly)
c.1597_1599dup (p.Gly533_Ser534insGly)
c.1594_1596dup (p.Gly532_Ser533insGly)
c.1456_1458dup (p.Gly486_Ser487insGly)
c.1309_1311dup (p.Gly437_Ser438insGly)
c.1171_1173dup (p.Gly391_Ser392insGly)
c.1150_1152dup (p.Gly384_Ser385insGly)
c.1306_1308dup (p.Gly436_Ser437insGly)
c.1393_1395dup (p.Gly465_Ser466insGly)
 gnomAD v4
4g.80202216_80202218delCA2671177774PRDM8c.754_756del (p.Gly252del)
c.757_759del (p.Gly253del)
c.1597_1599del (p.Gly533del)
c.1594_1596del (p.Gly532del)
c.1456_1458del (p.Gly486del)
c.1309_1311del (p.Gly437del)
c.1171_1173del (p.Gly391del)
c.1150_1152del (p.Gly384del)
c.1306_1308del (p.Gly436del)
c.1393_1395del (p.Gly465del)
 gnomAD v4
4g.80202214_80202227delCA2671177775PRDM8c.752_765del (p.Gly251GlufsTer?)
c.755_768del (p.Gly252GlufsTer?)
c.1595_1608del (p.Gly532GlufsTer?)
c.1592_1605del (p.Gly531GlufsTer?)
c.1454_1467del (p.Gly485GlufsTer?)
c.1307_1320del (p.Gly436GlufsTer?)
c.1169_1182del (p.Gly390GlufsTer?)
c.1148_1161del (p.Gly383GlufsTer?)
c.1304_1317del (p.Gly435GlufsTer?)
c.1391_1404del (p.Gly464GlufsTer?)
 gnomAD v4
4g.80202213G>ACA2982321PRDM8c.751G>A (p.Gly251Ser)
c.754G>A (p.Gly252Ser)
c.1594G>A (p.Gly532Ser)
c.1591G>A (p.Gly531Ser)
c.1453G>A (p.Gly485Ser)
c.1306G>A (p.Gly436Ser)
c.1168G>A (p.Gly390Ser)
c.1147G>A (p.Gly383Ser)
c.1303G>A (p.Gly435Ser)
c.1390G>A (p.Gly464Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.80202213G>CCA357395142PRDM8c.751G>C (p.Gly251Arg)
c.754G>C (p.Gly252Arg)
c.1594G>C (p.Gly532Arg)
c.1591G>C (p.Gly531Arg)
c.1453G>C (p.Gly485Arg)
c.1306G>C (p.Gly436Arg)
c.1168G>C (p.Gly390Arg)
c.1147G>C (p.Gly383Arg)
c.1303G>C (p.Gly435Arg)
c.1390G>C (p.Gly464Arg)
 dbSNP gnomAD v2 gnomAD v4
4g.80202213G=CA1471292587PRDM8c.751G= (p.Gly251=)
c.754G= (p.Gly252=)
c.1594G= (p.Gly532=)
c.1591G= (p.Gly531=)
c.1453G= (p.Gly485=)
c.1306G= (p.Gly436=)
c.1168G= (p.Gly390=)
c.1147G= (p.Gly383=)
c.1303G= (p.Gly435=)
c.1390G= (p.Gly464=)
4g.80202213G>TCA357395143PRDM8c.751G>T (p.Gly251Cys)
c.754G>T (p.Gly252Cys)
c.1594G>T (p.Gly532Cys)
c.1591G>T (p.Gly531Cys)
c.1453G>T (p.Gly485Cys)
c.1306G>T (p.Gly436Cys)
c.1168G>T (p.Gly390Cys)
c.1147G>T (p.Gly383Cys)
c.1303G>T (p.Gly435Cys)
c.1390G>T (p.Gly464Cys)
 gnomAD v4
4g.80202214G>ACA357395146PRDM8c.752G>A (p.Gly251Asp)
c.755G>A (p.Gly252Asp)
c.1595G>A (p.Gly532Asp)
c.1592G>A (p.Gly531Asp)
c.1454G>A (p.Gly485Asp)
c.1307G>A (p.Gly436Asp)
c.1169G>A (p.Gly390Asp)
c.1148G>A (p.Gly383Asp)
c.1304G>A (p.Gly435Asp)
c.1391G>A (p.Gly464Asp)
4g.80202214G>CCA357395144PRDM8c.752G>C (p.Gly251Ala)
c.755G>C (p.Gly252Ala)
c.1595G>C (p.Gly532Ala)
c.1592G>C (p.Gly531Ala)
c.1454G>C (p.Gly485Ala)
c.1307G>C (p.Gly436Ala)
c.1169G>C (p.Gly390Ala)
c.1148G>C (p.Gly383Ala)
c.1304G>C (p.Gly435Ala)
c.1391G>C (p.Gly464Ala)
 gnomAD v4
4g.80202214G>TCA357395145PRDM8c.752G>T (p.Gly251Val)
c.755G>T (p.Gly252Val)
c.1595G>T (p.Gly532Val)
c.1592G>T (p.Gly531Val)
c.1454G>T (p.Gly485Val)
c.1307G>T (p.Gly436Val)
c.1169G>T (p.Gly390Val)
c.1148G>T (p.Gly383Val)
c.1304G>T (p.Gly435Val)
c.1391G>T (p.Gly464Val)
 gnomAD v4
4g.80202215C>ACA440226640PRDM8c.753C>A (p.Gly251=)
c.756C>A (p.Gly252=)
c.1596C>A (p.Gly532=)
c.1593C>A (p.Gly531=)
c.1455C>A (p.Gly485=)
c.1308C>A (p.Gly436=)
c.1170C>A (p.Gly390=)
c.1149C>A (p.Gly383=)
c.1305C>A (p.Gly435=)
c.1392C>A (p.Gly464=)
4g.80202215C=CA1471292588PRDM8c.753C= (p.Gly251=)
c.756C= (p.Gly252=)
c.1596C= (p.Gly532=)
c.1593C= (p.Gly531=)
c.1455C= (p.Gly485=)
c.1308C= (p.Gly436=)
c.1170C= (p.Gly390=)
c.1149C= (p.Gly383=)
c.1305C= (p.Gly435=)
c.1392C= (p.Gly464=)
4g.80202215C>GCA440226641PRDM8c.753C>G (p.Gly251=)
c.756C>G (p.Gly252=)
c.1596C>G (p.Gly532=)
c.1593C>G (p.Gly531=)
c.1455C>G (p.Gly485=)
c.1308C>G (p.Gly436=)
c.1170C>G (p.Gly390=)
c.1149C>G (p.Gly383=)
c.1305C>G (p.Gly435=)
c.1392C>G (p.Gly464=)
4g.80202215C>TCA440226642PRDM8c.753C>T (p.Gly251=)
c.756C>T (p.Gly252=)
c.1596C>T (p.Gly532=)
c.1593C>T (p.Gly531=)
c.1455C>T (p.Gly485=)
c.1308C>T (p.Gly436=)
c.1170C>T (p.Gly390=)
c.1149C>T (p.Gly383=)
c.1305C>T (p.Gly435=)
c.1392C>T (p.Gly464=)
 dbSNP gnomAD v3 gnomAD v4
4g.80202216G>ACA357395147PRDM8c.754G>A (p.Gly252Ser)
c.757G>A (p.Gly253Ser)
c.1597G>A (p.Gly533Ser)
c.1594G>A (p.Gly532Ser)
c.1456G>A (p.Gly486Ser)
c.1309G>A (p.Gly437Ser)
c.1171G>A (p.Gly391Ser)
c.1150G>A (p.Gly384Ser)
c.1306G>A (p.Gly436Ser)
c.1393G>A (p.Gly465Ser)
 dbSNP gnomAD v3 gnomAD v4
4g.80202216G>CCA2982322PRDM8c.754G>C (p.Gly252Arg)
c.757G>C (p.Gly253Arg)
c.1597G>C (p.Gly533Arg)
c.1594G>C (p.Gly532Arg)
c.1456G>C (p.Gly486Arg)
c.1309G>C (p.Gly437Arg)
c.1171G>C (p.Gly391Arg)
c.1150G>C (p.Gly384Arg)
c.1306G>C (p.Gly436Arg)
c.1393G>C (p.Gly465Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.80202216G=CA1471292589PRDM8c.754G= (p.Gly252=)
c.757G= (p.Gly253=)
c.1597G= (p.Gly533=)
c.1594G= (p.Gly532=)
c.1456G= (p.Gly486=)
c.1309G= (p.Gly437=)
c.1171G= (p.Gly391=)
c.1150G= (p.Gly384=)
c.1306G= (p.Gly436=)
c.1393G= (p.Gly465=)
4g.80202216G>TCA357395148PRDM8c.754G>T (p.Gly252Cys)
c.757G>T (p.Gly253Cys)
c.1597G>T (p.Gly533Cys)
c.1594G>T (p.Gly532Cys)
c.1456G>T (p.Gly486Cys)
c.1309G>T (p.Gly437Cys)
c.1171G>T (p.Gly391Cys)
c.1150G>T (p.Gly384Cys)
c.1306G>T (p.Gly436Cys)
c.1393G>T (p.Gly465Cys)
4g.80202217G>ACA357395149PRDM8c.755G>A (p.Gly252Asp)
c.758G>A (p.Gly253Asp)
c.1598G>A (p.Gly533Asp)
c.1595G>A (p.Gly532Asp)
c.1457G>A (p.Gly486Asp)
c.1310G>A (p.Gly437Asp)
c.1172G>A (p.Gly391Asp)
c.1151G>A (p.Gly384Asp)
c.1307G>A (p.Gly436Asp)
c.1394G>A (p.Gly465Asp)
4g.80202217G>CCA357395150PRDM8c.755G>C (p.Gly252Ala)
c.758G>C (p.Gly253Ala)
c.1598G>C (p.Gly533Ala)
c.1595G>C (p.Gly532Ala)
c.1457G>C (p.Gly486Ala)
c.1310G>C (p.Gly437Ala)
c.1172G>C (p.Gly391Ala)
c.1151G>C (p.Gly384Ala)
c.1307G>C (p.Gly436Ala)
c.1394G>C (p.Gly465Ala)
4g.80202217G>TCA357395151PRDM8c.755G>T (p.Gly252Val)
c.758G>T (p.Gly253Val)
c.1598G>T (p.Gly533Val)
c.1595G>T (p.Gly532Val)
c.1457G>T (p.Gly486Val)
c.1310G>T (p.Gly437Val)
c.1172G>T (p.Gly391Val)
c.1151G>T (p.Gly384Val)
c.1307G>T (p.Gly436Val)
c.1394G>T (p.Gly465Val)
4g.80202222_80202224dupCA2671177776PRDM8c.760_762dup (p.Ser254_Ala255insSer)
c.763_765dup (p.Ser255_Ala256insSer)
c.1603_1605dup (p.Ser535_Ala536insSer)
c.1600_1602dup (p.Ser534_Ala535insSer)
c.1462_1464dup (p.Ser488_Ala489insSer)
c.1315_1317dup (p.Ser439_Ala440insSer)
c.1177_1179dup (p.Ser393_Ala394insSer)
c.1156_1158dup (p.Ser386_Ala387insSer)
c.1312_1314dup (p.Ser438_Ala439insSer)
c.1399_1401dup (p.Ser467_Ala468insSer)
 gnomAD v4
4g.80202222_80202224delCA2578127004PRDM8c.760_762del (p.Ser254del)
c.763_765del (p.Ser255del)
c.1603_1605del (p.Ser535del)
c.1600_1602del (p.Ser534del)
c.1462_1464del (p.Ser488del)
c.1315_1317del (p.Ser439del)
c.1177_1179del (p.Ser393del)
c.1156_1158del (p.Ser386del)
c.1312_1314del (p.Ser438del)
c.1399_1401del (p.Ser467del)
4g.80202218C>ACA440226646PRDM8c.756C>A (p.Gly252=)
c.759C>A (p.Gly253=)
c.1599C>A (p.Gly533=)
c.1596C>A (p.Gly532=)
c.1458C>A (p.Gly486=)
c.1311C>A (p.Gly437=)
c.1173C>A (p.Gly391=)
c.1152C>A (p.Gly384=)
c.1308C>A (p.Gly436=)
c.1395C>A (p.Gly465=)
4g.80202218C>GCA440226647PRDM8c.756C>G (p.Gly252=)
c.759C>G (p.Gly253=)
c.1599C>G (p.Gly533=)
c.1596C>G (p.Gly532=)
c.1458C>G (p.Gly486=)
c.1311C>G (p.Gly437=)
c.1173C>G (p.Gly391=)
c.1152C>G (p.Gly384=)
c.1308C>G (p.Gly436=)
c.1395C>G (p.Gly465=)
4g.80202218C>TCA440226648PRDM8c.756C>T (p.Gly252=)
c.759C>T (p.Gly253=)
c.1599C>T (p.Gly533=)
c.1596C>T (p.Gly532=)
c.1458C>T (p.Gly486=)
c.1311C>T (p.Gly437=)
c.1173C>T (p.Gly391=)
c.1152C>T (p.Gly384=)
c.1308C>T (p.Gly436=)
c.1395C>T (p.Gly465=)
4g.80202219A=CA1471292590PRDM8c.757A= (p.Ser253=)
c.760A= (p.Ser254=)
c.1600A= (p.Ser534=)
c.1597A= (p.Ser533=)
c.1459A= (p.Ser487=)
c.1312A= (p.Ser438=)
c.1174A= (p.Ser392=)
c.1153A= (p.Ser385=)
c.1309A= (p.Ser437=)
c.1396A= (p.Ser466=)
4g.80202219A>CCA357395153PRDM8c.757A>C (p.Ser253Arg)
c.760A>C (p.Ser254Arg)
c.1600A>C (p.Ser534Arg)
c.1597A>C (p.Ser533Arg)
c.1459A>C (p.Ser487Arg)
c.1312A>C (p.Ser438Arg)
c.1174A>C (p.Ser392Arg)
c.1153A>C (p.Ser385Arg)
c.1309A>C (p.Ser437Arg)
c.1396A>C (p.Ser466Arg)
4g.80202219A>GCA2982323PRDM8c.757A>G (p.Ser253Gly)
c.760A>G (p.Ser254Gly)
c.1600A>G (p.Ser534Gly)
c.1597A>G (p.Ser533Gly)
c.1459A>G (p.Ser487Gly)
c.1312A>G (p.Ser438Gly)
c.1174A>G (p.Ser392Gly)
c.1153A>G (p.Ser385Gly)
c.1309A>G (p.Ser437Gly)
c.1396A>G (p.Ser466Gly)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
4g.80202219A>TCA357395152PRDM8c.757A>T (p.Ser253Cys)
c.760A>T (p.Ser254Cys)
c.1600A>T (p.Ser534Cys)
c.1597A>T (p.Ser533Cys)
c.1459A>T (p.Ser487Cys)
c.1312A>T (p.Ser438Cys)
c.1174A>T (p.Ser392Cys)
c.1153A>T (p.Ser385Cys)
c.1309A>T (p.Ser437Cys)
c.1396A>T (p.Ser466Cys)
4g.80202220G>ACA357395154PRDM8c.758G>A (p.Ser253Asn)
c.761G>A (p.Ser254Asn)
c.1601G>A (p.Ser534Asn)
c.1598G>A (p.Ser533Asn)
c.1460G>A (p.Ser487Asn)
c.1313G>A (p.Ser438Asn)
c.1175G>A (p.Ser392Asn)
c.1154G>A (p.Ser385Asn)
c.1310G>A (p.Ser437Asn)
c.1397G>A (p.Ser466Asn)
4g.80202220G>CCA357395155PRDM8c.758G>C (p.Ser253Thr)
c.761G>C (p.Ser254Thr)
c.1601G>C (p.Ser534Thr)
c.1598G>C (p.Ser533Thr)
c.1460G>C (p.Ser487Thr)
c.1313G>C (p.Ser438Thr)
c.1175G>C (p.Ser392Thr)
c.1154G>C (p.Ser385Thr)
c.1310G>C (p.Ser437Thr)
c.1397G>C (p.Ser466Thr)
4g.80202220G>TCA357395156PRDM8c.758G>T (p.Ser253Ile)
c.761G>T (p.Ser254Ile)
c.1601G>T (p.Ser534Ile)
c.1598G>T (p.Ser533Ile)
c.1460G>T (p.Ser487Ile)
c.1313G>T (p.Ser438Ile)
c.1175G>T (p.Ser392Ile)
c.1154G>T (p.Ser385Ile)
c.1310G>T (p.Ser437Ile)
c.1397G>T (p.Ser466Ile)
4g.80202221C>ACA357395157PRDM8c.759C>A (p.Ser253Arg)
c.762C>A (p.Ser254Arg)
c.1602C>A (p.Ser534Arg)
c.1599C>A (p.Ser533Arg)
c.1461C>A (p.Ser487Arg)
c.1314C>A (p.Ser438Arg)
c.1176C>A (p.Ser392Arg)
c.1155C>A (p.Ser385Arg)
c.1311C>A (p.Ser437Arg)
c.1398C>A (p.Ser466Arg)
4g.80202221C>GCA357395158PRDM8c.759C>G (p.Ser253Arg)
c.762C>G (p.Ser254Arg)
c.1602C>G (p.Ser534Arg)
c.1599C>G (p.Ser533Arg)
c.1461C>G (p.Ser487Arg)
c.1314C>G (p.Ser438Arg)
c.1176C>G (p.Ser392Arg)
c.1155C>G (p.Ser385Arg)
c.1311C>G (p.Ser437Arg)
c.1398C>G (p.Ser466Arg)
4g.80202221C>TCA440226650PRDM8c.759C>T (p.Ser253=)
c.762C>T (p.Ser254=)
c.1602C>T (p.Ser534=)
c.1599C>T (p.Ser533=)
c.1461C>T (p.Ser487=)
c.1314C>T (p.Ser438=)
c.1176C>T (p.Ser392=)
c.1155C>T (p.Ser385=)
c.1311C>T (p.Ser437=)
c.1398C>T (p.Ser466=)
4g.80202222A>CCA357395161PRDM8c.760A>C (p.Ser254Arg)
c.763A>C (p.Ser255Arg)
c.1603A>C (p.Ser535Arg)
c.1600A>C (p.Ser534Arg)
c.1462A>C (p.Ser488Arg)
c.1315A>C (p.Ser439Arg)
c.1177A>C (p.Ser393Arg)
c.1156A>C (p.Ser386Arg)
c.1312A>C (p.Ser438Arg)
c.1399A>C (p.Ser467Arg)
4g.80202222A>GCA357395159PRDM8c.760A>G (p.Ser254Gly)
c.763A>G (p.Ser255Gly)
c.1603A>G (p.Ser535Gly)
c.1600A>G (p.Ser534Gly)
c.1462A>G (p.Ser488Gly)
c.1315A>G (p.Ser439Gly)
c.1177A>G (p.Ser393Gly)
c.1156A>G (p.Ser386Gly)
c.1312A>G (p.Ser438Gly)
c.1399A>G (p.Ser467Gly)
4g.80202222A>TCA357395160PRDM8c.760A>T (p.Ser254Cys)
c.763A>T (p.Ser255Cys)
c.1603A>T (p.Ser535Cys)
c.1600A>T (p.Ser534Cys)
c.1462A>T (p.Ser488Cys)
c.1315A>T (p.Ser439Cys)
c.1177A>T (p.Ser393Cys)
c.1156A>T (p.Ser386Cys)
c.1312A>T (p.Ser438Cys)
c.1399A>T (p.Ser467Cys)
4g.80202223G>ACA357395162PRDM8c.761G>A (p.Ser254Asn)
c.764G>A (p.Ser255Asn)
c.1604G>A (p.Ser535Asn)
c.1601G>A (p.Ser534Asn)
c.1463G>A (p.Ser488Asn)
c.1316G>A (p.Ser439Asn)
c.1178G>A (p.Ser393Asn)
c.1157G>A (p.Ser386Asn)
c.1313G>A (p.Ser438Asn)
c.1400G>A (p.Ser467Asn)
4g.80202223G>CCA357395163PRDM8c.761G>C (p.Ser254Thr)
c.764G>C (p.Ser255Thr)
c.1604G>C (p.Ser535Thr)
c.1601G>C (p.Ser534Thr)
c.1463G>C (p.Ser488Thr)
c.1316G>C (p.Ser439Thr)
c.1178G>C (p.Ser393Thr)
c.1157G>C (p.Ser386Thr)
c.1313G>C (p.Ser438Thr)
c.1400G>C (p.Ser467Thr)
 ClinVar dbSNP gnomAD v4
4g.80202223G=CA1471292610PRDM8c.761G= (p.Ser254=)
c.764G= (p.Ser255=)
c.1604G= (p.Ser535=)
c.1601G= (p.Ser534=)
c.1463G= (p.Ser488=)
c.1316G= (p.Ser439=)
c.1178G= (p.Ser393=)
c.1157G= (p.Ser386=)
c.1313G= (p.Ser438=)
c.1400G= (p.Ser467=)
4g.80202223G>TCA357395164PRDM8c.761G>T (p.Ser254Ile)
c.764G>T (p.Ser255Ile)
c.1604G>T (p.Ser535Ile)
c.1601G>T (p.Ser534Ile)
c.1463G>T (p.Ser488Ile)
c.1316G>T (p.Ser439Ile)
c.1178G>T (p.Ser393Ile)
c.1157G>T (p.Ser386Ile)
c.1313G>T (p.Ser438Ile)
c.1400G>T (p.Ser467Ile)
4g.80202224C>ACA357395165PRDM8c.762C>A (p.Ser254Arg)
c.765C>A (p.Ser255Arg)
c.1605C>A (p.Ser535Arg)
c.1602C>A (p.Ser534Arg)
c.1464C>A (p.Ser488Arg)
c.1317C>A (p.Ser439Arg)
c.1179C>A (p.Ser393Arg)
c.1158C>A (p.Ser386Arg)
c.1314C>A (p.Ser438Arg)
c.1401C>A (p.Ser467Arg)
4g.80202224C=CA1471292617PRDM8c.762C= (p.Ser254=)
c.765C= (p.Ser255=)
c.1605C= (p.Ser535=)
c.1602C= (p.Ser534=)
c.1464C= (p.Ser488=)
c.1317C= (p.Ser439=)
c.1179C= (p.Ser393=)
c.1158C= (p.Ser386=)
c.1314C= (p.Ser438=)
c.1401C= (p.Ser467=)
4g.80202224C>GCA357395166PRDM8c.762C>G (p.Ser254Arg)
c.765C>G (p.Ser255Arg)
c.1605C>G (p.Ser535Arg)
c.1602C>G (p.Ser534Arg)
c.1464C>G (p.Ser488Arg)
c.1317C>G (p.Ser439Arg)
c.1179C>G (p.Ser393Arg)
c.1158C>G (p.Ser386Arg)
c.1314C>G (p.Ser438Arg)
c.1401C>G (p.Ser467Arg)
 dbSNP
4g.80202224C>TCA2982324PRDM8c.762C>T (p.Ser254=)
c.765C>T (p.Ser255=)
c.1605C>T (p.Ser535=)
c.1602C>T (p.Ser534=)
c.1464C>T (p.Ser488=)
c.1317C>T (p.Ser439=)
c.1179C>T (p.Ser393=)
c.1158C>T (p.Ser386=)
c.1314C>T (p.Ser438=)
c.1401C>T (p.Ser467=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.80202225G>ACA357395167PRDM8c.763G>A (p.Ala255Thr)
c.766G>A (p.Ala256Thr)
c.1606G>A (p.Ala536Thr)
c.1603G>A (p.Ala535Thr)
c.1465G>A (p.Ala489Thr)
c.1318G>A (p.Ala440Thr)
c.1180G>A (p.Ala394Thr)
c.1159G>A (p.Ala387Thr)
c.1315G>A (p.Ala439Thr)
c.1402G>A (p.Ala468Thr)
4g.80202225G>CCA357395168PRDM8c.763G>C (p.Ala255Pro)
c.766G>C (p.Ala256Pro)
c.1606G>C (p.Ala536Pro)
c.1603G>C (p.Ala535Pro)
c.1465G>C (p.Ala489Pro)
c.1318G>C (p.Ala440Pro)
c.1180G>C (p.Ala394Pro)
c.1159G>C (p.Ala387Pro)
c.1315G>C (p.Ala439Pro)
c.1402G>C (p.Ala468Pro)
4g.80202225G>TCA357395169PRDM8c.763G>T (p.Ala255Ser)
c.766G>T (p.Ala256Ser)
c.1606G>T (p.Ala536Ser)
c.1603G>T (p.Ala535Ser)
c.1465G>T (p.Ala489Ser)
c.1318G>T (p.Ala440Ser)
c.1180G>T (p.Ala394Ser)
c.1159G>T (p.Ala387Ser)
c.1315G>T (p.Ala439Ser)
c.1402G>T (p.Ala468Ser)
4g.80202226C>ACA357395170PRDM8c.764C>A (p.Ala255Glu)
c.767C>A (p.Ala256Glu)
c.1607C>A (p.Ala536Glu)
c.1604C>A (p.Ala535Glu)
c.1466C>A (p.Ala489Glu)
c.1319C>A (p.Ala440Glu)
c.1181C>A (p.Ala394Glu)
c.1160C>A (p.Ala387Glu)
c.1316C>A (p.Ala439Glu)
c.1403C>A (p.Ala468Glu)
4g.80202226C=CA1471292624PRDM8c.764C= (p.Ala255=)
c.767C= (p.Ala256=)
c.1607C= (p.Ala536=)
c.1604C= (p.Ala535=)
c.1466C= (p.Ala489=)
c.1319C= (p.Ala440=)
c.1181C= (p.Ala394=)
c.1160C= (p.Ala387=)
c.1316C= (p.Ala439=)
c.1403C= (p.Ala468=)
4g.80202226C>GCA357395171PRDM8c.764C>G (p.Ala255Gly)
c.767C>G (p.Ala256Gly)
c.1607C>G (p.Ala536Gly)
c.1604C>G (p.Ala535Gly)
c.1466C>G (p.Ala489Gly)
c.1319C>G (p.Ala440Gly)
c.1181C>G (p.Ala394Gly)
c.1160C>G (p.Ala387Gly)
c.1316C>G (p.Ala439Gly)
c.1403C>G (p.Ala468Gly)
 gnomAD v4
4g.80202226C>TCA357395172PRDM8c.764C>T (p.Ala255Val)
c.767C>T (p.Ala256Val)
c.1607C>T (p.Ala536Val)
c.1604C>T (p.Ala535Val)
c.1466C>T (p.Ala489Val)
c.1319C>T (p.Ala440Val)
c.1181C>T (p.Ala394Val)
c.1160C>T (p.Ala387Val)
c.1316C>T (p.Ala439Val)
c.1403C>T (p.Ala468Val)
 dbSNP gnomAD v4
4g.80202227G>ACA440226655PRDM8c.765G>A (p.Ala255=)
c.768G>A (p.Ala256=)
c.1608G>A (p.Ala536=)
c.1605G>A (p.Ala535=)
c.1467G>A (p.Ala489=)
c.1320G>A (p.Ala440=)
c.1182G>A (p.Ala394=)
c.1161G>A (p.Ala387=)
c.1317G>A (p.Ala439=)
c.1404G>A (p.Ala468=)
 gnomAD v4
4g.80202227G>CCA440226656PRDM8c.765G>C (p.Ala255=)
c.768G>C (p.Ala256=)
c.1608G>C (p.Ala536=)
c.1605G>C (p.Ala535=)
c.1467G>C (p.Ala489=)
c.1320G>C (p.Ala440=)
c.1182G>C (p.Ala394=)
c.1161G>C (p.Ala387=)
c.1317G>C (p.Ala439=)
c.1404G>C (p.Ala468=)
4g.80202227G=CA1471292630PRDM8c.765G= (p.Ala255=)
c.768G= (p.Ala256=)
c.1608G= (p.Ala536=)
c.1605G= (p.Ala535=)
c.1467G= (p.Ala489=)
c.1320G= (p.Ala440=)
c.1182G= (p.Ala394=)
c.1161G= (p.Ala387=)
c.1317G= (p.Ala439=)
c.1404G= (p.Ala468=)
4g.80202227G>TCA440226657PRDM8c.765G>T (p.Ala255=)
c.768G>T (p.Ala256=)
c.1608G>T (p.Ala536=)
c.1605G>T (p.Ala535=)
c.1467G>T (p.Ala489=)
c.1320G>T (p.Ala440=)
c.1182G>T (p.Ala394=)
c.1161G>T (p.Ala387=)
c.1317G>T (p.Ala439=)
c.1404G>T (p.Ala468=)
 dbSNP gnomAD v2 gnomAD v4
4g.80202228A>CCA357395173PRDM8c.766A>C (p.Lys256Gln)
c.769A>C (p.Lys257Gln)
c.1609A>C (p.Lys537Gln)
c.1606A>C (p.Lys536Gln)
c.1468A>C (p.Lys490Gln)
c.1321A>C (p.Lys441Gln)
c.1183A>C (p.Lys395Gln)
c.1162A>C (p.Lys388Gln)
c.1318A>C (p.Lys440Gln)
c.1405A>C (p.Lys469Gln)
4g.80202228A>GCA357395175PRDM8c.766A>G (p.Lys256Glu)
c.769A>G (p.Lys257Glu)
c.1609A>G (p.Lys537Glu)
c.1606A>G (p.Lys536Glu)
c.1468A>G (p.Lys490Glu)
c.1321A>G (p.Lys441Glu)
c.1183A>G (p.Lys395Glu)
c.1162A>G (p.Lys388Glu)
c.1318A>G (p.Lys440Glu)
c.1405A>G (p.Lys469Glu)
4g.80202228A>TCA357395174PRDM8c.766A>T (p.Lys256Ter)
c.769A>T (p.Lys257Ter)
c.1609A>T (p.Lys537Ter)
c.1606A>T (p.Lys536Ter)
c.1468A>T (p.Lys490Ter)
c.1321A>T (p.Lys441Ter)
c.1183A>T (p.Lys395Ter)
c.1162A>T (p.Lys388Ter)
c.1318A>T (p.Lys440Ter)
c.1405A>T (p.Lys469Ter)
 gnomAD v4
4g.80202229A>CCA357395176PRDM8c.767A>C (p.Lys256Thr)
c.770A>C (p.Lys257Thr)
c.1610A>C (p.Lys537Thr)
c.1607A>C (p.Lys536Thr)
c.1469A>C (p.Lys490Thr)
c.1322A>C (p.Lys441Thr)
c.1184A>C (p.Lys395Thr)
c.1163A>C (p.Lys388Thr)
c.1319A>C (p.Lys440Thr)
c.1406A>C (p.Lys469Thr)
 ClinVar
4g.80202229A>GCA357395178PRDM8c.767A>G (p.Lys256Arg)
c.770A>G (p.Lys257Arg)
c.1610A>G (p.Lys537Arg)
c.1607A>G (p.Lys536Arg)
c.1469A>G (p.Lys490Arg)
c.1322A>G (p.Lys441Arg)
c.1184A>G (p.Lys395Arg)
c.1163A>G (p.Lys388Arg)
c.1319A>G (p.Lys440Arg)
c.1406A>G (p.Lys469Arg)
 gnomAD v4
4g.80202229A>TCA357395177PRDM8c.767A>T (p.Lys256Met)
c.770A>T (p.Lys257Met)
c.1610A>T (p.Lys537Met)
c.1607A>T (p.Lys536Met)
c.1469A>T (p.Lys490Met)
c.1322A>T (p.Lys441Met)
c.1184A>T (p.Lys395Met)
c.1163A>T (p.Lys388Met)
c.1319A>T (p.Lys440Met)
c.1406A>T (p.Lys469Met)
4g.80202230G>ACA440226661PRDM8c.768G>A (p.Lys256=)
c.771G>A (p.Lys257=)
c.1611G>A (p.Lys537=)
c.1608G>A (p.Lys536=)
c.1470G>A (p.Lys490=)
c.1323G>A (p.Lys441=)
c.1185G>A (p.Lys395=)
c.1164G>A (p.Lys388=)
c.1320G>A (p.Lys440=)
c.1407G>A (p.Lys469=)
4g.80202230G>CCA357395179PRDM8c.768G>C (p.Lys256Asn)
c.771G>C (p.Lys257Asn)
c.1611G>C (p.Lys537Asn)
c.1608G>C (p.Lys536Asn)
c.1470G>C (p.Lys490Asn)
c.1323G>C (p.Lys441Asn)
c.1185G>C (p.Lys395Asn)
c.1164G>C (p.Lys388Asn)
c.1320G>C (p.Lys440Asn)
c.1407G>C (p.Lys469Asn)
 COSMIC
4g.80202230G>TCA357395180PRDM8c.768G>T (p.Lys256Asn)
c.771G>T (p.Lys257Asn)
c.1611G>T (p.Lys537Asn)
c.1608G>T (p.Lys536Asn)
c.1470G>T (p.Lys490Asn)
c.1323G>T (p.Lys441Asn)
c.1185G>T (p.Lys395Asn)
c.1164G>T (p.Lys388Asn)
c.1320G>T (p.Lys440Asn)
c.1407G>T (p.Lys469Asn)
 gnomAD v4
4g.80202231C>ACA357395181PRDM8c.769C>A (p.Pro257Thr)
c.772C>A (p.Pro258Thr)
c.1612C>A (p.Pro538Thr)
c.1609C>A (p.Pro537Thr)
c.1471C>A (p.Pro491Thr)
c.1324C>A (p.Pro442Thr)
c.1186C>A (p.Pro396Thr)
c.1165C>A (p.Pro389Thr)
c.1321C>A (p.Pro441Thr)
c.1408C>A (p.Pro470Thr)
4g.80202231C=CA1471292633PRDM8c.769C= (p.Pro257=)
c.772C= (p.Pro258=)
c.1612C= (p.Pro538=)
c.1609C= (p.Pro537=)
c.1471C= (p.Pro491=)
c.1324C= (p.Pro442=)
c.1186C= (p.Pro396=)
c.1165C= (p.Pro389=)
c.1321C= (p.Pro441=)
c.1408C= (p.Pro470=)
4g.80202231C>GCA357395182PRDM8c.769C>G (p.Pro257Ala)
c.772C>G (p.Pro258Ala)
c.1612C>G (p.Pro538Ala)
c.1609C>G (p.Pro537Ala)
c.1471C>G (p.Pro491Ala)
c.1324C>G (p.Pro442Ala)
c.1186C>G (p.Pro396Ala)
c.1165C>G (p.Pro389Ala)
c.1321C>G (p.Pro441Ala)
c.1408C>G (p.Pro470Ala)
4g.80202231C>TCA357395183PRDM8c.769C>T (p.Pro257Ser)
c.772C>T (p.Pro258Ser)
c.1612C>T (p.Pro538Ser)
c.1609C>T (p.Pro537Ser)
c.1471C>T (p.Pro491Ser)
c.1324C>T (p.Pro442Ser)
c.1186C>T (p.Pro396Ser)
c.1165C>T (p.Pro389Ser)
c.1321C>T (p.Pro441Ser)
c.1408C>T (p.Pro470Ser)
 dbSNP gnomAD v2
4g.80202232C>ACA357395184PRDM8c.770C>A (p.Pro257Gln)
c.773C>A (p.Pro258Gln)
c.1613C>A (p.Pro538Gln)
c.1610C>A (p.Pro537Gln)
c.1472C>A (p.Pro491Gln)
c.1325C>A (p.Pro442Gln)
c.1187C>A (p.Pro396Gln)
c.1166C>A (p.Pro389Gln)
c.1322C>A (p.Pro441Gln)
c.1409C>A (p.Pro470Gln)
4g.80202232C=CA1471292636PRDM8c.770C= (p.Pro257=)
c.773C= (p.Pro258=)
c.1613C= (p.Pro538=)
c.1610C= (p.Pro537=)
c.1472C= (p.Pro491=)
c.1325C= (p.Pro442=)
c.1187C= (p.Pro396=)
c.1166C= (p.Pro389=)
c.1322C= (p.Pro441=)
c.1409C= (p.Pro470=)
4g.80202232C>GCA357395185PRDM8c.770C>G (p.Pro257Arg)
c.773C>G (p.Pro258Arg)
c.1613C>G (p.Pro538Arg)
c.1610C>G (p.Pro537Arg)
c.1472C>G (p.Pro491Arg)
c.1325C>G (p.Pro442Arg)
c.1187C>G (p.Pro396Arg)
c.1166C>G (p.Pro389Arg)
c.1322C>G (p.Pro441Arg)
c.1409C>G (p.Pro470Arg)
 dbSNP
4g.80202232C>TCA357395186PRDM8c.770C>T (p.Pro257Leu)
c.773C>T (p.Pro258Leu)
c.1613C>T (p.Pro538Leu)
c.1610C>T (p.Pro537Leu)
c.1472C>T (p.Pro491Leu)
c.1325C>T (p.Pro442Leu)
c.1187C>T (p.Pro396Leu)
c.1166C>T (p.Pro389Leu)
c.1322C>T (p.Pro441Leu)
c.1409C>T (p.Pro470Leu)
4g.80202233A>CCA440226816PRDM8c.771A>C (p.Pro257=)
c.774A>C (p.Pro258=)
c.1614A>C (p.Pro538=)
c.1611A>C (p.Pro537=)
c.1473A>C (p.Pro491=)
c.1326A>C (p.Pro442=)
c.1188A>C (p.Pro396=)
c.1167A>C (p.Pro389=)
c.1323A>C (p.Pro441=)
c.1410A>C (p.Pro470=)
4g.80202233A>GCA440226814PRDM8c.771A>G (p.Pro257=)
c.774A>G (p.Pro258=)
c.1614A>G (p.Pro538=)
c.1611A>G (p.Pro537=)
c.1473A>G (p.Pro491=)
c.1326A>G (p.Pro442=)
c.1188A>G (p.Pro396=)
c.1167A>G (p.Pro389=)
c.1323A>G (p.Pro441=)
c.1410A>G (p.Pro470=)
4g.80202233A>TCA440226813PRDM8c.771A>T (p.Pro257=)
c.774A>T (p.Pro258=)
c.1614A>T (p.Pro538=)
c.1611A>T (p.Pro537=)
c.1473A>T (p.Pro491=)
c.1326A>T (p.Pro442=)
c.1188A>T (p.Pro396=)
c.1167A>T (p.Pro389=)
c.1323A>T (p.Pro441=)
c.1410A>T (p.Pro470=)
4g.80202234T>ACA357395187PRDM8c.772T>A (p.Ser258Thr)
c.775T>A (p.Ser259Thr)
c.1615T>A (p.Ser539Thr)
c.1612T>A (p.Ser538Thr)
c.1474T>A (p.Ser492Thr)
c.1327T>A (p.Ser443Thr)
c.1189T>A (p.Ser397Thr)
c.1168T>A (p.Ser390Thr)
c.1324T>A (p.Ser442Thr)
c.1411T>A (p.Ser471Thr)
 gnomAD v4
4g.80202234T>CCA357395188PRDM8c.772T>C (p.Ser258Pro)
c.775T>C (p.Ser259Pro)
c.1615T>C (p.Ser539Pro)
c.1612T>C (p.Ser538Pro)
c.1474T>C (p.Ser492Pro)
c.1327T>C (p.Ser443Pro)
c.1189T>C (p.Ser397Pro)
c.1168T>C (p.Ser390Pro)
c.1324T>C (p.Ser442Pro)
c.1411T>C (p.Ser471Pro)
 gnomAD v4
4g.80202234T>GCA357395189PRDM8c.772T>G (p.Ser258Ala)
c.775T>G (p.Ser259Ala)
c.1615T>G (p.Ser539Ala)
c.1612T>G (p.Ser538Ala)
c.1474T>G (p.Ser492Ala)
c.1327T>G (p.Ser443Ala)
c.1189T>G (p.Ser397Ala)
c.1168T>G (p.Ser390Ala)
c.1324T>G (p.Ser442Ala)
c.1411T>G (p.Ser471Ala)
4g.80202235C>ACA357395192PRDM8c.773C>A (p.Ser258Tyr)
c.776C>A (p.Ser259Tyr)
c.1616C>A (p.Ser539Tyr)
c.1613C>A (p.Ser538Tyr)
c.1475C>A (p.Ser492Tyr)
c.1328C>A (p.Ser443Tyr)
c.1190C>A (p.Ser397Tyr)
c.1169C>A (p.Ser390Tyr)
c.1325C>A (p.Ser442Tyr)
c.1412C>A (p.Ser471Tyr)
4g.80202235C=CA1471292637PRDM8c.773C= (p.Ser258=)
c.776C= (p.Ser259=)
c.1616C= (p.Ser539=)
c.1613C= (p.Ser538=)
c.1475C= (p.Ser492=)
c.1328C= (p.Ser443=)
c.1190C= (p.Ser397=)
c.1169C= (p.Ser390=)
c.1325C= (p.Ser442=)
c.1412C= (p.Ser471=)
4g.80202235C>GCA357395191PRDM8c.773C>G (p.Ser258Cys)
c.776C>G (p.Ser259Cys)
c.1616C>G (p.Ser539Cys)
c.1613C>G (p.Ser538Cys)
c.1475C>G (p.Ser492Cys)
c.1328C>G (p.Ser443Cys)
c.1190C>G (p.Ser397Cys)
c.1169C>G (p.Ser390Cys)
c.1325C>G (p.Ser442Cys)
c.1412C>G (p.Ser471Cys)
 dbSNP gnomAD v4
4g.80202235C>TCA357395190PRDM8c.773C>T (p.Ser258Phe)
c.776C>T (p.Ser259Phe)
c.1616C>T (p.Ser539Phe)
c.1613C>T (p.Ser538Phe)
c.1475C>T (p.Ser492Phe)
c.1328C>T (p.Ser443Phe)
c.1190C>T (p.Ser397Phe)
c.1169C>T (p.Ser390Phe)
c.1325C>T (p.Ser442Phe)
c.1412C>T (p.Ser471Phe)
 gnomAD v4
4g.80202236C>ACA440226823PRDM8c.774C>A (p.Ser258=)
c.777C>A (p.Ser259=)
c.1617C>A (p.Ser539=)
c.1614C>A (p.Ser538=)
c.1476C>A (p.Ser492=)
c.1329C>A (p.Ser443=)
c.1191C>A (p.Ser397=)
c.1170C>A (p.Ser390=)
c.1326C>A (p.Ser442=)
c.1413C>A (p.Ser471=)
4g.80202236C=CA1471292641PRDM8c.774C= (p.Ser258=)
c.777C= (p.Ser259=)
c.1617C= (p.Ser539=)
c.1614C= (p.Ser538=)
c.1476C= (p.Ser492=)
c.1329C= (p.Ser443=)
c.1191C= (p.Ser397=)
c.1170C= (p.Ser390=)
c.1326C= (p.Ser442=)
c.1413C= (p.Ser471=)
4g.80202236C>GCA440226826PRDM8c.774C>G (p.Ser258=)
c.777C>G (p.Ser259=)
c.1617C>G (p.Ser539=)
c.1614C>G (p.Ser538=)
c.1476C>G (p.Ser492=)
c.1329C>G (p.Ser443=)
c.1191C>G (p.Ser397=)
c.1170C>G (p.Ser390=)
c.1326C>G (p.Ser442=)
c.1413C>G (p.Ser471=)
4g.80202236C>TCA440226824PRDM8c.774C>T (p.Ser258=)
c.777C>T (p.Ser259=)
c.1617C>T (p.Ser539=)
c.1614C>T (p.Ser538=)
c.1476C>T (p.Ser492=)
c.1329C>T (p.Ser443=)
c.1191C>T (p.Ser397=)
c.1170C>T (p.Ser390=)
c.1326C>T (p.Ser442=)
c.1413C>T (p.Ser471=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.80202237A>CCA357395193PRDM8c.775A>C (p.Thr259Pro)
c.778A>C (p.Thr260Pro)
c.1618A>C (p.Thr540Pro)
c.1615A>C (p.Thr539Pro)
c.1477A>C (p.Thr493Pro)
c.1330A>C (p.Thr444Pro)
c.1192A>C (p.Thr398Pro)
c.1171A>C (p.Thr391Pro)
c.1327A>C (p.Thr443Pro)
c.1414A>C (p.Thr472Pro)
4g.80202237A>GCA357395194PRDM8c.775A>G (p.Thr259Ala)
c.778A>G (p.Thr260Ala)
c.1618A>G (p.Thr540Ala)
c.1615A>G (p.Thr539Ala)
c.1477A>G (p.Thr493Ala)
c.1330A>G (p.Thr444Ala)
c.1192A>G (p.Thr398Ala)
c.1171A>G (p.Thr391Ala)
c.1327A>G (p.Thr443Ala)
c.1414A>G (p.Thr472Ala)
 gnomAD v4
4g.80202237A>TCA357395195PRDM8c.775A>T (p.Thr259Ser)
c.778A>T (p.Thr260Ser)
c.1618A>T (p.Thr540Ser)
c.1615A>T (p.Thr539Ser)
c.1477A>T (p.Thr493Ser)
c.1330A>T (p.Thr444Ser)
c.1192A>T (p.Thr398Ser)
c.1171A>T (p.Thr391Ser)
c.1327A>T (p.Thr443Ser)
c.1414A>T (p.Thr472Ser)
4g.80202238C>ACA357395196PRDM8c.776C>A (p.Thr259Lys)
c.779C>A (p.Thr260Lys)
c.1619C>A (p.Thr540Lys)
c.1616C>A (p.Thr539Lys)
c.1478C>A (p.Thr493Lys)
c.1331C>A (p.Thr444Lys)
c.1193C>A (p.Thr398Lys)
c.1172C>A (p.Thr391Lys)
c.1328C>A (p.Thr443Lys)
c.1415C>A (p.Thr472Lys)
4g.80202238C=CA1471292644PRDM8c.776C= (p.Thr259=)
c.779C= (p.Thr260=)
c.1619C= (p.Thr540=)
c.1616C= (p.Thr539=)
c.1478C= (p.Thr493=)
c.1331C= (p.Thr444=)
c.1193C= (p.Thr398=)
c.1172C= (p.Thr391=)
c.1328C= (p.Thr443=)
c.1415C= (p.Thr472=)
4g.80202238C>GCA357395197PRDM8c.776C>G (p.Thr259Arg)
c.779C>G (p.Thr260Arg)
c.1619C>G (p.Thr540Arg)
c.1616C>G (p.Thr539Arg)
c.1478C>G (p.Thr493Arg)
c.1331C>G (p.Thr444Arg)
c.1193C>G (p.Thr398Arg)
c.1172C>G (p.Thr391Arg)
c.1328C>G (p.Thr443Arg)
c.1415C>G (p.Thr472Arg)
 dbSNP
4g.80202238C>TCA357395198PRDM8c.776C>T (p.Thr259Ile)
c.779C>T (p.Thr260Ile)
c.1619C>T (p.Thr540Ile)
c.1616C>T (p.Thr539Ile)
c.1478C>T (p.Thr493Ile)
c.1331C>T (p.Thr444Ile)
c.1193C>T (p.Thr398Ile)
c.1172C>T (p.Thr391Ile)
c.1328C>T (p.Thr443Ile)
c.1415C>T (p.Thr472Ile)
4g.80202239A>CCA440226835PRDM8c.777A>C (p.Thr259=)
c.780A>C (p.Thr260=)
c.1620A>C (p.Thr540=)
c.1617A>C (p.Thr539=)
c.1479A>C (p.Thr493=)
c.1332A>C (p.Thr444=)
c.1194A>C (p.Thr398=)
c.1173A>C (p.Thr391=)
c.1329A>C (p.Thr443=)
c.1416A>C (p.Thr472=)
 gnomAD v4
4g.80202239A>GCA440226837PRDM8c.777A>G (p.Thr259=)
c.780A>G (p.Thr260=)
c.1620A>G (p.Thr540=)
c.1617A>G (p.Thr539=)
c.1479A>G (p.Thr493=)
c.1332A>G (p.Thr444=)
c.1194A>G (p.Thr398=)
c.1173A>G (p.Thr391=)
c.1329A>G (p.Thr443=)
c.1416A>G (p.Thr472=)
4g.80202239A>TCA440226839PRDM8c.777A>T (p.Thr259=)
c.780A>T (p.Thr260=)
c.1620A>T (p.Thr540=)
c.1617A>T (p.Thr539=)
c.1479A>T (p.Thr493=)
c.1332A>T (p.Thr444=)
c.1194A>T (p.Thr398=)
c.1173A>T (p.Thr391=)
c.1329A>T (p.Thr443=)
c.1416A>T (p.Thr472=)
4g.80202240G>ACA357395199PRDM8c.778G>A (p.Asp260Asn)
c.781G>A (p.Asp261Asn)
c.1621G>A (p.Asp541Asn)
c.1618G>A (p.Asp540Asn)
c.1480G>A (p.Asp494Asn)
c.1333G>A (p.Asp445Asn)
c.1195G>A (p.Asp399Asn)
c.1174G>A (p.Asp392Asn)
c.1330G>A (p.Asp444Asn)
c.1417G>A (p.Asp473Asn)
4g.80202240G>CCA357395200PRDM8c.778G>C (p.Asp260His)
c.781G>C (p.Asp261His)
c.1621G>C (p.Asp541His)
c.1618G>C (p.Asp540His)
c.1480G>C (p.Asp494His)
c.1333G>C (p.Asp445His)
c.1195G>C (p.Asp399His)
c.1174G>C (p.Asp392His)
c.1330G>C (p.Asp444His)
c.1417G>C (p.Asp473His)
4g.80202240G>TCA357395201PRDM8c.778G>T (p.Asp260Tyr)
c.781G>T (p.Asp261Tyr)
c.1621G>T (p.Asp541Tyr)
c.1618G>T (p.Asp540Tyr)
c.1480G>T (p.Asp494Tyr)
c.1333G>T (p.Asp445Tyr)
c.1195G>T (p.Asp399Tyr)
c.1174G>T (p.Asp392Tyr)
c.1330G>T (p.Asp444Tyr)
c.1417G>T (p.Asp473Tyr)
4g.80202241A>CCA357395202PRDM8c.779A>C (p.Asp260Ala)
c.782A>C (p.Asp261Ala)
c.1622A>C (p.Asp541Ala)
c.1619A>C (p.Asp540Ala)
c.1481A>C (p.Asp494Ala)
c.1334A>C (p.Asp445Ala)
c.1196A>C (p.Asp399Ala)
c.1175A>C (p.Asp392Ala)
c.1331A>C (p.Asp444Ala)
c.1418A>C (p.Asp473Ala)
4g.80202241A>GCA357395203PRDM8c.779A>G (p.Asp260Gly)
c.782A>G (p.Asp261Gly)
c.1622A>G (p.Asp541Gly)
c.1619A>G (p.Asp540Gly)
c.1481A>G (p.Asp494Gly)
c.1334A>G (p.Asp445Gly)
c.1196A>G (p.Asp399Gly)
c.1175A>G (p.Asp392Gly)
c.1331A>G (p.Asp444Gly)
c.1418A>G (p.Asp473Gly)
4g.80202241A>TCA357395204PRDM8c.779A>T (p.Asp260Val)
c.782A>T (p.Asp261Val)
c.1622A>T (p.Asp541Val)
c.1619A>T (p.Asp540Val)
c.1481A>T (p.Asp494Val)
c.1334A>T (p.Asp445Val)
c.1196A>T (p.Asp399Val)
c.1175A>T (p.Asp392Val)
c.1331A>T (p.Asp444Val)
c.1418A>T (p.Asp473Val)
4g.80202242C>ACA357395206PRDM8c.780C>A (p.Asp260Glu)
c.783C>A (p.Asp261Glu)
c.1623C>A (p.Asp541Glu)
c.1620C>A (p.Asp540Glu)
c.1482C>A (p.Asp494Glu)
c.1335C>A (p.Asp445Glu)
c.1197C>A (p.Asp399Glu)
c.1176C>A (p.Asp392Glu)
c.1332C>A (p.Asp444Glu)
c.1419C>A (p.Asp473Glu)
4g.80202242C=CA1471292646PRDM8c.780C= (p.Asp260=)
c.783C= (p.Asp261=)
c.1623C= (p.Asp541=)
c.1620C= (p.Asp540=)
c.1482C= (p.Asp494=)
c.1335C= (p.Asp445=)
c.1197C= (p.Asp399=)
c.1176C= (p.Asp392=)
c.1332C= (p.Asp444=)
c.1419C= (p.Asp473=)
4g.80202242C>GCA357395205PRDM8c.780C>G (p.Asp260Glu)
c.783C>G (p.Asp261Glu)
c.1623C>G (p.Asp541Glu)
c.1620C>G (p.Asp540Glu)
c.1482C>G (p.Asp494Glu)
c.1335C>G (p.Asp445Glu)
c.1197C>G (p.Asp399Glu)
c.1176C>G (p.Asp392Glu)
c.1332C>G (p.Asp444Glu)
c.1419C>G (p.Asp473Glu)
 dbSNP gnomAD v2 gnomAD v4
4g.80202242C>TCA440226847PRDM8c.780C>T (p.Asp260=)
c.783C>T (p.Asp261=)
c.1623C>T (p.Asp541=)
c.1620C>T (p.Asp540=)
c.1482C>T (p.Asp494=)
c.1335C>T (p.Asp445=)
c.1197C>T (p.Asp399=)
c.1176C>T (p.Asp392=)
c.1332C>T (p.Asp444=)
c.1419C>T (p.Asp473=)
4g.80202243T>ACA357395207PRDM8c.781T>A (p.Phe261Ile)
c.784T>A (p.Phe262Ile)
c.1624T>A (p.Phe542Ile)
c.1621T>A (p.Phe541Ile)
c.1483T>A (p.Phe495Ile)
c.1336T>A (p.Phe446Ile)
c.1198T>A (p.Phe400Ile)
c.1177T>A (p.Phe393Ile)
c.1333T>A (p.Phe445Ile)
c.1420T>A (p.Phe474Ile)
4g.80202243T>CCA279633PRDM8c.781T>C (p.Phe261Leu)
c.784T>C (p.Phe262Leu)
c.1624T>C (p.Phe542Leu)
c.1621T>C (p.Phe541Leu)
c.1483T>C (p.Phe495Leu)
c.1336T>C (p.Phe446Leu)
c.1198T>C (p.Phe400Leu)
c.1177T>C (p.Phe393Leu)
c.1333T>C (p.Phe445Leu)
c.1420T>C (p.Phe474Leu)
 ClinVar dbSNP
4g.80202243T>GCA357395208PRDM8c.781T>G (p.Phe261Val)
c.784T>G (p.Phe262Val)
c.1624T>G (p.Phe542Val)
c.1621T>G (p.Phe541Val)
c.1483T>G (p.Phe495Val)
c.1336T>G (p.Phe446Val)
c.1198T>G (p.Phe400Val)
c.1177T>G (p.Phe393Val)
c.1333T>G (p.Phe445Val)
c.1420T>G (p.Phe474Val)
4g.80202243T=CA1471292653PRDM8c.781T= (p.Phe261=)
c.784T= (p.Phe262=)
c.1624T= (p.Phe542=)
c.1621T= (p.Phe541=)
c.1483T= (p.Phe495=)
c.1336T= (p.Phe446=)
c.1198T= (p.Phe400=)
c.1177T= (p.Phe393=)
c.1333T= (p.Phe445=)
c.1420T= (p.Phe474=)
4g.80202244T>ACA357395209PRDM8c.782T>A (p.Phe261Tyr)
c.785T>A (p.Phe262Tyr)
c.1625T>A (p.Phe542Tyr)
c.1622T>A (p.Phe541Tyr)
c.1484T>A (p.Phe495Tyr)
c.1337T>A (p.Phe446Tyr)
c.1199T>A (p.Phe400Tyr)
c.1178T>A (p.Phe393Tyr)
c.1334T>A (p.Phe445Tyr)
c.1421T>A (p.Phe474Tyr)
4g.80202244T>CCA357395210PRDM8c.782T>C (p.Phe261Ser)
c.785T>C (p.Phe262Ser)
c.1625T>C (p.Phe542Ser)
c.1622T>C (p.Phe541Ser)
c.1484T>C (p.Phe495Ser)
c.1337T>C (p.Phe446Ser)
c.1199T>C (p.Phe400Ser)
c.1178T>C (p.Phe393Ser)
c.1334T>C (p.Phe445Ser)
c.1421T>C (p.Phe474Ser)
4g.80202244T>GCA357395211PRDM8c.782T>G (p.Phe261Cys)
c.785T>G (p.Phe262Cys)
c.1625T>G (p.Phe542Cys)
c.1622T>G (p.Phe541Cys)
c.1484T>G (p.Phe495Cys)
c.1337T>G (p.Phe446Cys)
c.1199T>G (p.Phe400Cys)
c.1178T>G (p.Phe393Cys)
c.1334T>G (p.Phe445Cys)
c.1421T>G (p.Phe474Cys)
4g.80202245C>ACA357395212PRDM8c.783C>A (p.Phe261Leu)
c.786C>A (p.Phe262Leu)
c.1626C>A (p.Phe542Leu)
c.1623C>A (p.Phe541Leu)
c.1485C>A (p.Phe495Leu)
c.1338C>A (p.Phe446Leu)
c.1200C>A (p.Phe400Leu)
c.1179C>A (p.Phe393Leu)
c.1335C>A (p.Phe445Leu)
c.1422C>A (p.Phe474Leu)
4g.80202245C>GCA357395213PRDM8c.783C>G (p.Phe261Leu)
c.786C>G (p.Phe262Leu)
c.1626C>G (p.Phe542Leu)
c.1623C>G (p.Phe541Leu)
c.1485C>G (p.Phe495Leu)
c.1338C>G (p.Phe446Leu)
c.1200C>G (p.Phe400Leu)
c.1179C>G (p.Phe393Leu)
c.1335C>G (p.Phe445Leu)
c.1422C>G (p.Phe474Leu)
4g.80202245C>TCA440226855PRDM8c.783C>T (p.Phe261=)
c.786C>T (p.Phe262=)
c.1626C>T (p.Phe542=)
c.1623C>T (p.Phe541=)
c.1485C>T (p.Phe495=)
c.1338C>T (p.Phe446=)
c.1200C>T (p.Phe400=)
c.1179C>T (p.Phe393=)
c.1335C>T (p.Phe445=)
c.1422C>T (p.Phe474=)
 COSMIC
4g.80202246C>ACA357395214PRDM8c.784C>A (p.His262Asn)
c.787C>A (p.His263Asn)
c.1627C>A (p.His543Asn)
c.1624C>A (p.His542Asn)
c.1486C>A (p.His496Asn)
c.1339C>A (p.His447Asn)
c.1201C>A (p.His401Asn)
c.1180C>A (p.His394Asn)
c.1336C>A (p.His446Asn)
c.1423C>A (p.His475Asn)
4g.80202246C>GCA357395215PRDM8c.784C>G (p.His262Asp)
c.787C>G (p.His263Asp)
c.1627C>G (p.His543Asp)
c.1624C>G (p.His542Asp)
c.1486C>G (p.His496Asp)
c.1339C>G (p.His447Asp)
c.1201C>G (p.His401Asp)
c.1180C>G (p.His394Asp)
c.1336C>G (p.His446Asp)
c.1423C>G (p.His475Asp)
4g.80202246C>TCA357395216PRDM8c.784C>T (p.His262Tyr)
c.787C>T (p.His263Tyr)
c.1627C>T (p.His543Tyr)
c.1624C>T (p.His542Tyr)
c.1486C>T (p.His496Tyr)
c.1339C>T (p.His447Tyr)
c.1201C>T (p.His401Tyr)
c.1180C>T (p.His394Tyr)
c.1336C>T (p.His446Tyr)
c.1423C>T (p.His475Tyr)
4g.80202247A>CCA357395217PRDM8c.785A>C (p.His262Pro)
c.788A>C (p.His263Pro)
c.1628A>C (p.His543Pro)
c.1625A>C (p.His542Pro)
c.1487A>C (p.His496Pro)
c.1340A>C (p.His447Pro)
c.1202A>C (p.His401Pro)
c.1181A>C (p.His394Pro)
c.1337A>C (p.His446Pro)
c.1424A>C (p.His475Pro)
4g.80202247A>GCA357395218PRDM8c.785A>G (p.His262Arg)
c.788A>G (p.His263Arg)
c.1628A>G (p.His543Arg)
c.1625A>G (p.His542Arg)
c.1487A>G (p.His496Arg)
c.1340A>G (p.His447Arg)
c.1202A>G (p.His401Arg)
c.1181A>G (p.His394Arg)
c.1337A>G (p.His446Arg)
c.1424A>G (p.His475Arg)
4g.80202247A>TCA357395219PRDM8c.785A>T (p.His262Leu)
c.788A>T (p.His263Leu)
c.1628A>T (p.His543Leu)
c.1625A>T (p.His542Leu)
c.1487A>T (p.His496Leu)
c.1340A>T (p.His447Leu)
c.1202A>T (p.His401Leu)
c.1181A>T (p.His394Leu)
c.1337A>T (p.His446Leu)
c.1424A>T (p.His475Leu)
4g.80202248C>ACA357395220PRDM8c.786C>A (p.His262Gln)
c.789C>A (p.His263Gln)
c.1629C>A (p.His543Gln)
c.1626C>A (p.His542Gln)
c.1488C>A (p.His496Gln)
c.1341C>A (p.His447Gln)
c.1203C>A (p.His401Gln)
c.1182C>A (p.His394Gln)
c.1338C>A (p.His446Gln)
c.1425C>A (p.His475Gln)
4g.80202248C>GCA357395221PRDM8c.786C>G (p.His262Gln)
c.789C>G (p.His263Gln)
c.1629C>G (p.His543Gln)
c.1626C>G (p.His542Gln)
c.1488C>G (p.His496Gln)
c.1341C>G (p.His447Gln)
c.1203C>G (p.His401Gln)
c.1182C>G (p.His394Gln)
c.1338C>G (p.His446Gln)
c.1425C>G (p.His475Gln)
4g.80202248C>TCA440226861PRDM8c.786C>T (p.His262=)
c.789C>T (p.His263=)
c.1629C>T (p.His543=)
c.1626C>T (p.His542=)
c.1488C>T (p.His496=)
c.1341C>T (p.His447=)
c.1203C>T (p.His401=)
c.1182C>T (p.His394=)
c.1338C>T (p.His446=)
c.1425C>T (p.His475=)
 gnomAD v4
4g.80202249A>CCA357395222PRDM8c.787A>C (p.Asn263His)
c.790A>C (p.Asn264His)
c.1630A>C (p.Asn544His)
c.1627A>C (p.Asn543His)
c.1489A>C (p.Asn497His)
c.1342A>C (p.Asn448His)
c.1204A>C (p.Asn402His)
c.1183A>C (p.Asn395His)
c.1339A>C (p.Asn447His)
c.1426A>C (p.Asn476His)
4g.80202249A>GCA357395223PRDM8c.787A>G (p.Asn263Asp)
c.790A>G (p.Asn264Asp)
c.1630A>G (p.Asn544Asp)
c.1627A>G (p.Asn543Asp)
c.1489A>G (p.Asn497Asp)
c.1342A>G (p.Asn448Asp)
c.1204A>G (p.Asn402Asp)
c.1183A>G (p.Asn395Asp)
c.1339A>G (p.Asn447Asp)
c.1426A>G (p.Asn476Asp)
4g.80202249A>TCA357395224PRDM8c.787A>T (p.Asn263Tyr)
c.790A>T (p.Asn264Tyr)
c.1630A>T (p.Asn544Tyr)
c.1627A>T (p.Asn543Tyr)
c.1489A>T (p.Asn497Tyr)
c.1342A>T (p.Asn448Tyr)
c.1204A>T (p.Asn402Tyr)
c.1183A>T (p.Asn395Tyr)
c.1339A>T (p.Asn447Tyr)
c.1426A>T (p.Asn476Tyr)

Number of alleles fetched