Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.38351573C>A | CA391934669 | SPRED1 | c.1244C>A (p.Pro415Gln) c.1280C>A (p.Pro427Gln) c.1022C>A (p.Pro341Gln) c.1181C>A (p.Pro394Gln) | |
15 | g.38351573C>G | CA391934670 | SPRED1 | c.1244C>G (p.Pro415Arg) c.1280C>G (p.Pro427Arg) c.1022C>G (p.Pro341Arg) c.1181C>G (p.Pro394Arg) | |
15 | g.38351573C>T | CA391934671 | SPRED1 | c.1244C>T (p.Pro415Leu) c.1280C>T (p.Pro427Leu) c.1022C>T (p.Pro341Leu) c.1181C>T (p.Pro394Leu) | |
15 | g.38351574A= | CA2170812770 | SPRED1 | c.1245A= (p.Pro415=) c.1281A= (p.Pro427=) c.1023A= (p.Pro341=) c.1182A= (p.Pro394=) | |
15 | g.38351574A>C | CA490012604 | SPRED1 | c.1245A>C (p.Pro415=) c.1281A>C (p.Pro427=) c.1023A>C (p.Pro341=) c.1182A>C (p.Pro394=) | |
15 | g.38351574A>G | CA269293464 | SPRED1 | c.1245A>G (p.Pro415=) c.1281A>G (p.Pro427=) c.1023A>G (p.Pro341=) c.1182A>G (p.Pro394=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.38351574A>T | CA490012605 | SPRED1 | c.1245A>T (p.Pro415=) c.1281A>T (p.Pro427=) c.1023A>T (p.Pro341=) c.1182A>T (p.Pro394=) | |
15 | g.38351575T>A | CA391934672 | SPRED1 | c.1246T>A (p.Cys416Ser) c.1282T>A (p.Cys428Ser) c.1024T>A (p.Cys342Ser) c.1183T>A (p.Cys395Ser) | |
15 | g.38351575T>C | CA391934673 | SPRED1 | c.1246T>C (p.Cys416Arg) c.1282T>C (p.Cys428Arg) c.1024T>C (p.Cys342Arg) c.1183T>C (p.Cys395Arg) | ClinVar dbSNP gnomAD v4 |
15 | g.38351575T>G | CA391934674 | SPRED1 | c.1246T>G (p.Cys416Gly) c.1282T>G (p.Cys428Gly) c.1024T>G (p.Cys342Gly) c.1183T>G (p.Cys395Gly) | ClinVar dbSNP gnomAD v4 |
15 | g.38351575T= | CA2170812771 | SPRED1 | c.1246T= (p.Cys416=) c.1282T= (p.Cys428=) c.1024T= (p.Cys342=) c.1183T= (p.Cys395=) | |
15 | g.38351576G>A | CA391934677 | SPRED1 | c.1247G>A (p.Cys416Tyr) c.1283G>A (p.Cys428Tyr) c.1025G>A (p.Cys342Tyr) c.1184G>A (p.Cys395Tyr) | gnomAD v4 |
15 | g.38351576G>C | CA391934675 | SPRED1 | c.1247G>C (p.Cys416Ser) c.1283G>C (p.Cys428Ser) c.1025G>C (p.Cys342Ser) c.1184G>C (p.Cys395Ser) | |
15 | g.38351576G>T | CA391934676 | SPRED1 | c.1247G>T (p.Cys416Phe) c.1283G>T (p.Cys428Phe) c.1025G>T (p.Cys342Phe) c.1184G>T (p.Cys395Phe) | |
15 | g.38351577T>A | CA391934678 | SPRED1 | c.1248T>A (p.Cys416Ter) c.1284T>A (p.Cys428Ter) c.1026T>A (p.Cys342Ter) c.1185T>A (p.Cys395Ter) | ClinVar dbSNP |
15 | g.38351577T>C | CA490012607 | SPRED1 | c.1248T>C (p.Cys416=) c.1284T>C (p.Cys428=) c.1026T>C (p.Cys342=) c.1185T>C (p.Cys395=) | |
15 | g.38351577T>G | CA391934679 | SPRED1 | c.1248T>G (p.Cys416Trp) c.1284T>G (p.Cys428Trp) c.1026T>G (p.Cys342Trp) c.1185T>G (p.Cys395Trp) | |
15 | g.38351577dup | CA658761260 | SPRED1 | c.1248dup (p.Met417TyrfsTer15) c.1284dup (p.Met429TyrfsTer15) c.1026dup (p.Met343TyrfsTer15) c.1185dup (p.Met396TyrfsTer15) | |
15 | g.38351578A>C | CA391934680 | SPRED1 | c.1249A>C (p.Met417Leu) c.1285A>C (p.Met429Leu) c.1027A>C (p.Met343Leu) c.1186A>C (p.Met396Leu) | |
15 | g.38351578A>G | CA391934681 | SPRED1 | c.1249A>G (p.Met417Val) c.1285A>G (p.Met429Val) c.1027A>G (p.Met343Val) c.1186A>G (p.Met396Val) | gnomAD v4 |
15 | g.38351578A>T | CA391934682 | SPRED1 | c.1249A>T (p.Met417Leu) c.1285A>T (p.Met429Leu) c.1027A>T (p.Met343Leu) c.1186A>T (p.Met396Leu) | |
15 | g.38351579T>A | CA391934683 | SPRED1 | c.1250T>A (p.Met417Lys) c.1286T>A (p.Met429Lys) c.1028T>A (p.Met343Lys) c.1187T>A (p.Met396Lys) | |
15 | g.38351579T>C | CA391934684 | SPRED1 | c.1250T>C (p.Met417Thr) c.1286T>C (p.Met429Thr) c.1028T>C (p.Met343Thr) c.1187T>C (p.Met396Thr) | gnomAD v4 |
15 | g.38351579T>G | CA391934685 | SPRED1 | c.1250T>G (p.Met417Arg) c.1286T>G (p.Met429Arg) c.1028T>G (p.Met343Arg) c.1187T>G (p.Met396Arg) | |
15 | g.38351580G>A | CA391934686 | SPRED1 | c.1251G>A (p.Met417Ile) c.1287G>A (p.Met429Ile) c.1029G>A (p.Met343Ile) c.1188G>A (p.Met396Ile) | |
15 | g.38351580G>C | CA391934687 | SPRED1 | c.1251G>C (p.Met417Ile) c.1287G>C (p.Met429Ile) c.1029G>C (p.Met343Ile) c.1188G>C (p.Met396Ile) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.38351580G= | CA2170812772 | SPRED1 | c.1251G= (p.Met417=) c.1287G= (p.Met429=) c.1029G= (p.Met343=) c.1188G= (p.Met396=) | |
15 | g.38351580G>T | CA391934688 | SPRED1 | c.1251G>T (p.Met417Ile) c.1287G>T (p.Met429Ile) c.1029G>T (p.Met343Ile) c.1188G>T (p.Met396Ile) | |
15 | g.38351581del | CA658761261 | SPRED1 | c.1252del (p.Cys418AlafsTer6) c.1288del (p.Cys430AlafsTer6) c.1030del (p.Cys344AlafsTer6) c.1189del (p.Cys397AlafsTer6) | |
15 | g.38351581T>A | CA391934691 | SPRED1 | c.1252T>A (p.Cys418Ser) c.1288T>A (p.Cys430Ser) c.1030T>A (p.Cys344Ser) c.1189T>A (p.Cys397Ser) | |
15 | g.38351581T>C | CA391934690 | SPRED1 | c.1252T>C (p.Cys418Arg) c.1288T>C (p.Cys430Arg) c.1030T>C (p.Cys344Arg) c.1189T>C (p.Cys397Arg) | |
15 | g.38351581T>G | CA391934689 | SPRED1 | c.1252T>G (p.Cys418Gly) c.1288T>G (p.Cys430Gly) c.1030T>G (p.Cys344Gly) c.1189T>G (p.Cys397Gly) | |
15 | g.38351582G>A | CA391934692 | SPRED1 | c.1253G>A (p.Cys418Tyr) c.1289G>A (p.Cys430Tyr) c.1031G>A (p.Cys344Tyr) c.1190G>A (p.Cys397Tyr) | gnomAD v4 |
15 | g.38351582G>C | CA391934693 | SPRED1 | c.1253G>C (p.Cys418Ser) c.1289G>C (p.Cys430Ser) c.1031G>C (p.Cys344Ser) c.1190G>C (p.Cys397Ser) | |
15 | g.38351582G>T | CA391934694 | SPRED1 | c.1253G>T (p.Cys418Phe) c.1289G>T (p.Cys430Phe) c.1031G>T (p.Cys344Phe) c.1190G>T (p.Cys397Phe) | |
15 | g.38351583C>A | CA391934695 | SPRED1 | c.1254C>A (p.Cys418Ter) c.1290C>A (p.Cys430Ter) c.1032C>A (p.Cys344Ter) c.1191C>A (p.Cys397Ter) | |
15 | g.38351583C>G | CA391934696 | SPRED1 | c.1254C>G (p.Cys418Trp) c.1290C>G (p.Cys430Trp) c.1032C>G (p.Cys344Trp) c.1191C>G (p.Cys397Trp) | |
15 | g.38351583C>T | CA490012614 | SPRED1 | c.1254C>T (p.Cys418=) c.1290C>T (p.Cys430=) c.1032C>T (p.Cys344=) c.1191C>T (p.Cys397=) | ClinVar dbSNP gnomAD v4 |
15 | g.38351584T>A | CA391934697 | SPRED1 | c.1255T>A (p.Cys419Ser) c.1291T>A (p.Cys431Ser) c.1033T>A (p.Cys345Ser) c.1192T>A (p.Cys398Ser) | |
15 | g.38351584T>C | CA391934698 | SPRED1 | c.1255T>C (p.Cys419Arg) c.1291T>C (p.Cys431Arg) c.1033T>C (p.Cys345Arg) c.1192T>C (p.Cys398Arg) | |
15 | g.38351584T>G | CA391934699 | SPRED1 | c.1255T>G (p.Cys419Gly) c.1291T>G (p.Cys431Gly) c.1033T>G (p.Cys345Gly) c.1192T>G (p.Cys398Gly) | |
15 | g.38351585G>A | CA391934700 | SPRED1 | c.1256G>A (p.Cys419Tyr) c.1292G>A (p.Cys431Tyr) c.1034G>A (p.Cys345Tyr) c.1193G>A (p.Cys398Tyr) | gnomAD v4 |
15 | g.38351585G>C | CA391934701 | SPRED1 | c.1256G>C (p.Cys419Ser) c.1292G>C (p.Cys431Ser) c.1034G>C (p.Cys345Ser) c.1193G>C (p.Cys398Ser) | |
15 | g.38351585G>T | CA391934702 | SPRED1 | c.1256G>T (p.Cys419Phe) c.1292G>T (p.Cys431Phe) c.1034G>T (p.Cys345Phe) c.1193G>T (p.Cys398Phe) | |
15 | g.38351586C>A | CA391934703 | SPRED1 | c.1257C>A (p.Cys419Ter) c.1293C>A (p.Cys431Ter) c.1035C>A (p.Cys345Ter) c.1194C>A (p.Cys398Ter) | |
15 | g.38351586C= | CA2170812773 | SPRED1 | c.1257C= (p.Cys419=) c.1293C= (p.Cys431=) c.1035C= (p.Cys345=) c.1194C= (p.Cys398=) | |
15 | g.38351586C>G | CA391934704 | SPRED1 | c.1257C>G (p.Cys419Trp) c.1293C>G (p.Cys431Trp) c.1035C>G (p.Cys345Trp) c.1194C>G (p.Cys398Trp) | dbSNP |
15 | g.38351586C>T | CA490012616 | SPRED1 | c.1257C>T (p.Cys419=) c.1293C>T (p.Cys431=) c.1035C>T (p.Cys345=) c.1194C>T (p.Cys398=) | |
15 | g.38351587T>A | CA391934707 | SPRED1 | c.1258T>A (p.Tyr420Asn) c.1294T>A (p.Tyr432Asn) c.1036T>A (p.Tyr346Asn) c.1195T>A (p.Tyr399Asn) | |
15 | g.38351587T>C | CA391934705 | SPRED1 | c.1258T>C (p.Tyr420His) c.1294T>C (p.Tyr432His) c.1036T>C (p.Tyr346His) c.1195T>C (p.Tyr399His) | |
15 | g.38351587T>G | CA391934706 | SPRED1 | c.1258T>G (p.Tyr420Asp) c.1294T>G (p.Tyr432Asp) c.1036T>G (p.Tyr346Asp) c.1195T>G (p.Tyr399Asp) | |
15 | g.38351588A= | CA2170812774 | SPRED1 | c.1259A= (p.Tyr420=) c.1295A= (p.Tyr432=) c.1037A= (p.Tyr346=) c.1196A= (p.Tyr399=) | |
15 | g.38351588A>C | CA391934708 | SPRED1 | c.1259A>C (p.Tyr420Ser) c.1295A>C (p.Tyr432Ser) c.1037A>C (p.Tyr346Ser) c.1196A>C (p.Tyr399Ser) | dbSNP gnomAD v2 |
15 | g.38351588A>G | CA391934709 | SPRED1 | c.1259A>G (p.Tyr420Cys) c.1295A>G (p.Tyr432Cys) c.1037A>G (p.Tyr346Cys) c.1196A>G (p.Tyr399Cys) | |
15 | g.38351588A>T | CA391934710 | SPRED1 | c.1259A>T (p.Tyr420Phe) c.1295A>T (p.Tyr432Phe) c.1037A>T (p.Tyr346Phe) c.1196A>T (p.Tyr399Phe) | |
15 | g.38351589C>A | CA391934711 | SPRED1 | c.1260C>A (p.Tyr420Ter) c.1296C>A (p.Tyr432Ter) c.1038C>A (p.Tyr346Ter) c.1197C>A (p.Tyr399Ter) | COSMIC |
15 | g.38351589C= | CA2170812775 | SPRED1 | c.1260C= (p.Tyr420=) c.1296C= (p.Tyr432=) c.1038C= (p.Tyr346=) c.1197C= (p.Tyr399=) | |
15 | g.38351589C>G | CA391934712 | SPRED1 | c.1260C>G (p.Tyr420Ter) c.1296C>G (p.Tyr432Ter) c.1038C>G (p.Tyr346Ter) c.1197C>G (p.Tyr399Ter) | |
15 | g.38351589C>T | CA7470254 | SPRED1 | c.1260C>T (p.Tyr420=) c.1296C>T (p.Tyr432=) c.1038C>T (p.Tyr346=) c.1197C>T (p.Tyr399=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.38351590G>A | CA7470255 | SPRED1 | c.1261G>A (p.Val421Ile) c.1297G>A (p.Val433Ile) c.1039G>A (p.Val347Ile) c.1198G>A (p.Val400Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.38351590G>C | CA391934713 | SPRED1 | c.1261G>C (p.Val421Leu) c.1297G>C (p.Val433Leu) c.1039G>C (p.Val347Leu) c.1198G>C (p.Val400Leu) | |
15 | g.38351590G= | CA2170812776 | SPRED1 | c.1261G= (p.Val421=) c.1297G= (p.Val433=) c.1039G= (p.Val347=) c.1198G= (p.Val400=) | |
15 | g.38351590G>T | CA391934714 | SPRED1 | c.1261G>T (p.Val421Phe) c.1297G>T (p.Val433Phe) c.1039G>T (p.Val347Phe) c.1198G>T (p.Val400Phe) | |
15 | g.38351591T>A | CA391934715 | SPRED1 | c.1262T>A (p.Val421Asp) c.1298T>A (p.Val433Asp) c.1040T>A (p.Val347Asp) c.1199T>A (p.Val400Asp) | |
15 | g.38351591T>C | CA391934716 | SPRED1 | c.1262T>C (p.Val421Ala) c.1298T>C (p.Val433Ala) c.1040T>C (p.Val347Ala) c.1199T>C (p.Val400Ala) | |
15 | g.38351591T>G | CA391934717 | SPRED1 | c.1262T>G (p.Val421Gly) c.1298T>G (p.Val433Gly) c.1040T>G (p.Val347Gly) c.1199T>G (p.Val400Gly) | gnomAD v4 |
15 | g.38351592C>A | CA490012618 | SPRED1 | c.1263C>A (p.Val421=) c.1299C>A (p.Val433=) c.1041C>A (p.Val347=) c.1200C>A (p.Val400=) | |
15 | g.38351592C>G | CA490012619 | SPRED1 | c.1263C>G (p.Val421=) c.1299C>G (p.Val433=) c.1041C>G (p.Val347=) c.1200C>G (p.Val400=) | |
15 | g.38351592C>T | CA490012620 | SPRED1 | c.1263C>T (p.Val421=) c.1299C>T (p.Val433=) c.1041C>T (p.Val347=) c.1200C>T (p.Val400=) | |
15 | g.38351593C>A | CA391934718 | SPRED1 | c.1264C>A (p.Pro422Thr) c.1300C>A (p.Pro434Thr) c.1042C>A (p.Pro348Thr) c.1201C>A (p.Pro401Thr) | |
15 | g.38351593C>G | CA391934720 | SPRED1 | c.1264C>G (p.Pro422Ala) c.1300C>G (p.Pro434Ala) c.1042C>G (p.Pro348Ala) c.1201C>G (p.Pro401Ala) | |
15 | g.38351593C>T | CA391934719 | SPRED1 | c.1264C>T (p.Pro422Ser) c.1300C>T (p.Pro434Ser) c.1042C>T (p.Pro348Ser) c.1201C>T (p.Pro401Ser) | |
15 | g.38351594C>A | CA391934721 | SPRED1 | c.1265C>A (p.Pro422His) c.1301C>A (p.Pro434His) c.1043C>A (p.Pro348His) c.1202C>A (p.Pro401His) | |
15 | g.38351594C>G | CA391934723 | SPRED1 | c.1265C>G (p.Pro422Arg) c.1301C>G (p.Pro434Arg) c.1043C>G (p.Pro348Arg) c.1202C>G (p.Pro401Arg) | |
15 | g.38351594C>T | CA391934722 | SPRED1 | c.1265C>T (p.Pro422Leu) c.1301C>T (p.Pro434Leu) c.1043C>T (p.Pro348Leu) c.1202C>T (p.Pro401Leu) | COSMIC |
15 | g.38351595T>A | CA490012624 | SPRED1 | c.1266T>A (p.Pro422=) c.1302T>A (p.Pro434=) c.1044T>A (p.Pro348=) c.1203T>A (p.Pro401=) | |
15 | g.38351595T>C | CA490012621 | SPRED1 | c.1266T>C (p.Pro422=) c.1302T>C (p.Pro434=) c.1044T>C (p.Pro348=) c.1203T>C (p.Pro401=) | |
15 | g.38351595T>G | CA490012623 | SPRED1 | c.1266T>G (p.Pro422=) c.1302T>G (p.Pro434=) c.1044T>G (p.Pro348=) c.1203T>G (p.Pro401=) | |
15 | g.38351596T>A | CA391934724 | SPRED1 | c.1267T>A (p.Leu423Met) c.1303T>A (p.Leu435Met) c.1045T>A (p.Leu349Met) c.1204T>A (p.Leu402Met) | |
15 | g.38351596T>C | CA490012625 | SPRED1 | c.1267T>C (p.Leu423=) c.1303T>C (p.Leu435=) c.1045T>C (p.Leu349=) c.1204T>C (p.Leu402=) | dbSNP |
15 | g.38351596T>G | CA391934725 | SPRED1 | c.1267T>G (p.Leu423Val) c.1303T>G (p.Leu435Val) c.1045T>G (p.Leu349Val) c.1204T>G (p.Leu402Val) | |
15 | g.38351596T= | CA2170812777 | SPRED1 | c.1267T= (p.Leu423=) c.1303T= (p.Leu435=) c.1045T= (p.Leu349=) c.1204T= (p.Leu402=) | |
15 | g.38351597T>A | CA391934726 | SPRED1 | c.1268T>A (p.Leu423Ter) c.1304T>A (p.Leu435Ter) c.1046T>A (p.Leu349Ter) c.1205T>A (p.Leu402Ter) | |
15 | g.38351597T>C | CA391934727 | SPRED1 | c.1268T>C (p.Leu423Ser) c.1304T>C (p.Leu435Ser) c.1046T>C (p.Leu349Ser) c.1205T>C (p.Leu402Ser) | |
15 | g.38351597T>G | CA391934728 | SPRED1 | c.1268T>G (p.Leu423Trp) c.1304T>G (p.Leu435Trp) c.1046T>G (p.Leu349Trp) c.1205T>G (p.Leu402Trp) | |
15 | g.38351598G>A | CA490012626 | SPRED1 | c.1269G>A (p.Leu423=) c.1305G>A (p.Leu435=) c.1047G>A (p.Leu349=) c.1206G>A (p.Leu402=) | |
15 | g.38351598G>C | CA391934729 | SPRED1 | c.1269G>C (p.Leu423Phe) c.1305G>C (p.Leu435Phe) c.1047G>C (p.Leu349Phe) c.1206G>C (p.Leu402Phe) | dbSNP |
15 | g.38351598G= | CA2170812778 | SPRED1 | c.1269G= (p.Leu423=) c.1305G= (p.Leu435=) c.1047G= (p.Leu349=) c.1206G= (p.Leu402=) | |
15 | g.38351598G>T | CA391934730 | SPRED1 | c.1269G>T (p.Leu423Phe) c.1305G>T (p.Leu435Phe) c.1047G>T (p.Leu349Phe) c.1206G>T (p.Leu402Phe) | |
15 | g.38351600_38351601del | CA2697554338 | SPRED1 | c.1271_1272del (p.Arg424AsnfsTer7) c.1307_1308del (p.Arg436AsnfsTer7) c.1049_1050del (p.Arg350AsnfsTer7) c.1208_1209del (p.Arg403AsnfsTer7) | ClinVar |
15 | g.38351599A>C | CA490012627 | SPRED1 | c.1270A>C (p.Arg424=) c.1306A>C (p.Arg436=) c.1048A>C (p.Arg350=) c.1207A>C (p.Arg403=) | |
15 | g.38351599A>G | CA391934731 | SPRED1 | c.1270A>G (p.Arg424Gly) c.1306A>G (p.Arg436Gly) c.1048A>G (p.Arg350Gly) c.1207A>G (p.Arg403Gly) | |
15 | g.38351599A>T | CA391934732 | SPRED1 | c.1270A>T (p.Arg424Ter) c.1306A>T (p.Arg436Ter) c.1048A>T (p.Arg350Ter) c.1207A>T (p.Arg403Ter) | |
15 | g.38351600G>A | CA391934733 | SPRED1 | c.1271G>A (p.Arg424Lys) c.1307G>A (p.Arg436Lys) c.1049G>A (p.Arg350Lys) c.1208G>A (p.Arg403Lys) | |
15 | g.38351600G>C | CA391934734 | SPRED1 | c.1271G>C (p.Arg424Thr) c.1307G>C (p.Arg436Thr) c.1049G>C (p.Arg350Thr) c.1208G>C (p.Arg403Thr) | |
15 | g.38351600G>T | CA391934735 | SPRED1 | c.1271G>T (p.Arg424Ile) c.1307G>T (p.Arg436Ile) c.1049G>T (p.Arg350Ile) c.1208G>T (p.Arg403Ile) | |
15 | g.38351601A>C | CA391934736 | SPRED1 | c.1272A>C (p.Arg424Ser) c.1308A>C (p.Arg436Ser) c.1050A>C (p.Arg350Ser) c.1209A>C (p.Arg403Ser) | |
15 | g.38351601A>G | CA490012633 | SPRED1 | c.1272A>G (p.Arg424=) c.1308A>G (p.Arg436=) c.1050A>G (p.Arg350=) c.1209A>G (p.Arg403=) | |
15 | g.38351601A>T | CA391934737 | SPRED1 | c.1272A>T (p.Arg424Ser) c.1308A>T (p.Arg436Ser) c.1050A>T (p.Arg350Ser) c.1209A>T (p.Arg403Ser) | |
15 | g.38351602del | CA2580089342 | SPRED1 | c.1273del (p.Met425CysfsTer?) c.1309del (p.Met437CysfsTer?) c.1051del (p.Met351CysfsTer?) c.1210del (p.Met404CysfsTer?) | ClinVar dbSNP |
15 | g.38351602A= | CA2170812779 | SPRED1 | c.1273A= (p.Met425=) c.1309A= (p.Met437=) c.1051A= (p.Met351=) c.1210A= (p.Met404=) | |
15 | g.38351602A>C | CA391934738 | SPRED1 | c.1273A>C (p.Met425Leu) c.1309A>C (p.Met437Leu) c.1051A>C (p.Met351Leu) c.1210A>C (p.Met404Leu) | |
15 | g.38351602A>G | CA7470256 | SPRED1 | c.1273A>G (p.Met425Val) c.1309A>G (p.Met437Val) c.1051A>G (p.Met351Val) c.1210A>G (p.Met404Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.38351602A>T | CA391934739 | SPRED1 | c.1273A>T (p.Met425Leu) c.1309A>T (p.Met437Leu) c.1051A>T (p.Met351Leu) c.1210A>T (p.Met404Leu) | |
15 | g.38351602_38351603del | CA2803806072 | SPRED1 | c.1273_1274del (p.Met425ValfsTer6) c.1309_1310del (p.Met437ValfsTer6) c.1051_1052del (p.Met351ValfsTer6) c.1210_1211del (p.Met404ValfsTer6) | |
15 | g.38351603T>A | CA391934740 | SPRED1 | c.1274T>A (p.Met425Lys) c.1310T>A (p.Met437Lys) c.1052T>A (p.Met351Lys) c.1211T>A (p.Met404Lys) | |
15 | g.38351603T>C | CA391934741 | SPRED1 | c.1274T>C (p.Met425Thr) c.1310T>C (p.Met437Thr) c.1052T>C (p.Met351Thr) c.1211T>C (p.Met404Thr) | gnomAD v4 |
15 | g.38351603T>G | CA391934742 | SPRED1 | c.1274T>G (p.Met425Arg) c.1310T>G (p.Met437Arg) c.1052T>G (p.Met351Arg) c.1211T>G (p.Met404Arg) | |
15 | g.38351604G>A | CA391934743 | SPRED1 | c.1275G>A (p.Met425Ile) c.1311G>A (p.Met437Ile) c.1053G>A (p.Met351Ile) c.1212G>A (p.Met404Ile) | ClinVar |
15 | g.38351604G>C | CA391934744 | SPRED1 | c.1275G>C (p.Met425Ile) c.1311G>C (p.Met437Ile) c.1053G>C (p.Met351Ile) c.1212G>C (p.Met404Ile) | |
15 | g.38351604G>T | CA391934745 | SPRED1 | c.1275G>T (p.Met425Ile) c.1311G>T (p.Met437Ile) c.1053G>T (p.Met351Ile) c.1212G>T (p.Met404Ile) | |
15 | g.38351604_38351605insCA | CA2803806073 | SPRED1 | c.1275_1276insCA (p.Cys426HisfsTer?) c.1311_1312insCA (p.Cys438HisfsTer?) c.1053_1054insCA (p.Cys352HisfsTer?) c.1212_1213insCA (p.Cys405HisfsTer?) | |
15 | g.38351605T>A | CA391934746 | SPRED1 | c.1276T>A (p.Cys426Ser) c.1312T>A (p.Cys438Ser) c.1054T>A (p.Cys352Ser) c.1213T>A (p.Cys405Ser) | |
15 | g.38351605T>C | CA391934747 | SPRED1 | c.1276T>C (p.Cys426Arg) c.1312T>C (p.Cys438Arg) c.1054T>C (p.Cys352Arg) c.1213T>C (p.Cys405Arg) | |
15 | g.38351605T>G | CA391934748 | SPRED1 | c.1276T>G (p.Cys426Gly) c.1312T>G (p.Cys438Gly) c.1054T>G (p.Cys352Gly) c.1213T>G (p.Cys405Gly) | |
15 | g.38351606G>A | CA391934750 | SPRED1 | c.1277G>A (p.Cys426Tyr) c.1313G>A (p.Cys438Tyr) c.1055G>A (p.Cys352Tyr) c.1214G>A (p.Cys405Tyr) | |
15 | g.38351606G>C | CA391934751 | SPRED1 | c.1277G>C (p.Cys426Ser) c.1313G>C (p.Cys438Ser) c.1055G>C (p.Cys352Ser) c.1214G>C (p.Cys405Ser) | |
15 | g.38351606G>T | CA391934749 | SPRED1 | c.1277G>T (p.Cys426Phe) c.1313G>T (p.Cys438Phe) c.1055G>T (p.Cys352Phe) c.1214G>T (p.Cys405Phe) | |
15 | g.38351607C>A | CA391934752 | SPRED1 | c.1278C>A (p.Cys426Ter) c.1314C>A (p.Cys438Ter) c.1056C>A (p.Cys352Ter) c.1215C>A (p.Cys405Ter) | |
15 | g.38351607C= | CA2170812780 | SPRED1 | c.1278C= (p.Cys426=) c.1314C= (p.Cys438=) c.1056C= (p.Cys352=) c.1215C= (p.Cys405=) | |
15 | g.38351607C>G | CA391934753 | SPRED1 | c.1278C>G (p.Cys426Trp) c.1314C>G (p.Cys438Trp) c.1056C>G (p.Cys352Trp) c.1215C>G (p.Cys405Trp) | |
15 | g.38351607C>T | CA490012639 | SPRED1 | c.1278C>T (p.Cys426=) c.1314C>T (p.Cys438=) c.1056C>T (p.Cys352=) c.1215C>T (p.Cys405=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.38351608C>A | CA391934754 | SPRED1 | c.1279C>A (p.His427Asn) c.1315C>A (p.His439Asn) c.1057C>A (p.His353Asn) c.1216C>A (p.His406Asn) | gnomAD v4 |
15 | g.38351608C>G | CA391934755 | SPRED1 | c.1279C>G (p.His427Asp) c.1315C>G (p.His439Asp) c.1057C>G (p.His353Asp) c.1216C>G (p.His406Asp) | |
15 | g.38351608C>T | CA391934756 | SPRED1 | c.1279C>T (p.His427Tyr) c.1315C>T (p.His439Tyr) c.1057C>T (p.His353Tyr) c.1216C>T (p.His406Tyr) | |
15 | g.38351609A= | CA2170812781 | SPRED1 | c.1280A= (p.His427=) c.1316A= (p.His439=) c.1058A= (p.His353=) c.1217A= (p.His406=) | |
15 | g.38351609A>C | CA391934759 | SPRED1 | c.1280A>C (p.His427Pro) c.1316A>C (p.His439Pro) c.1058A>C (p.His353Pro) c.1217A>C (p.His406Pro) | |
15 | g.38351609A>G | CA391934757 | SPRED1 | c.1280A>G (p.His427Arg) c.1316A>G (p.His439Arg) c.1058A>G (p.His353Arg) c.1217A>G (p.His406Arg) | ClinVar dbSNP |
15 | g.38351609A>T | CA391934758 | SPRED1 | c.1280A>T (p.His427Leu) c.1316A>T (p.His439Leu) c.1058A>T (p.His353Leu) c.1217A>T (p.His406Leu) | gnomAD v4 |
15 | g.38351610T>A | CA391934760 | SPRED1 | c.1281T>A (p.His427Gln) c.1317T>A (p.His439Gln) c.1059T>A (p.His353Gln) c.1218T>A (p.His406Gln) | |
15 | g.38351610T>C | CA490012645 | SPRED1 | c.1281T>C (p.His427=) c.1317T>C (p.His439=) c.1059T>C (p.His353=) c.1218T>C (p.His406=) | |
15 | g.38351610T>G | CA391934761 | SPRED1 | c.1281T>G (p.His427Gln) c.1317T>G (p.His439Gln) c.1059T>G (p.His353Gln) c.1218T>G (p.His406Gln) | |
15 | g.38351610_38351668dup | CA1139663833 | SPRED1 | c.1281_*4dup (n.1281_*4dup) c.1317_*4dup (n.1317_*4dup) c.1059_*4dup (n.1059_*4dup) c.1218_*4dup (n.1218_*4dup) | ClinVar dbSNP |
15 | g.38351611C>A | CA391934762 | SPRED1 | c.1282C>A (p.Arg428Ser) c.1318C>A (p.Arg440Ser) c.1060C>A (p.Arg354Ser) c.1219C>A (p.Arg407Ser) | |
15 | g.38351611C= | CA2170812782 | SPRED1 | c.1282C= (p.Arg428=) c.1318C= (p.Arg440=) c.1060C= (p.Arg354=) c.1219C= (p.Arg407=) | |
15 | g.38351611C>G | CA391934763 | SPRED1 | c.1282C>G (p.Arg428Gly) c.1318C>G (p.Arg440Gly) c.1060C>G (p.Arg354Gly) c.1219C>G (p.Arg407Gly) | |
15 | g.38351611C>T | CA16042992 | SPRED1 | c.1282C>T (p.Arg428Cys) c.1318C>T (p.Arg440Cys) c.1060C>T (p.Arg354Cys) c.1219C>T (p.Arg407Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.38351612G>A | CA7470257 | SPRED1 | c.1283G>A (p.Arg428His) c.1319G>A (p.Arg440His) c.1061G>A (p.Arg354His) c.1220G>A (p.Arg407His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
15 | g.38351612G>C | CA391934765 | SPRED1 | c.1283G>C (p.Arg428Pro) c.1319G>C (p.Arg440Pro) c.1061G>C (p.Arg354Pro) c.1220G>C (p.Arg407Pro) | |
15 | g.38351612G= | CA2170812783 | SPRED1 | c.1283G= (p.Arg428=) c.1319G= (p.Arg440=) c.1061G= (p.Arg354=) c.1220G= (p.Arg407=) | |
15 | g.38351612G>T | CA391934764 | SPRED1 | c.1283G>T (p.Arg428Leu) c.1319G>T (p.Arg440Leu) c.1061G>T (p.Arg354Leu) c.1220G>T (p.Arg407Leu) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.38351613C>A | CA490012649 | SPRED1 | c.1284C>A (p.Arg428=) c.1320C>A (p.Arg440=) c.1062C>A (p.Arg354=) c.1221C>A (p.Arg407=) | |
15 | g.38351613C>G | CA490012650 | SPRED1 | c.1284C>G (p.Arg428=) c.1320C>G (p.Arg440=) c.1062C>G (p.Arg354=) c.1221C>G (p.Arg407=) | |
15 | g.38351613C>T | CA490012651 | SPRED1 | c.1284C>T (p.Arg428=) c.1320C>T (p.Arg440=) c.1062C>T (p.Arg354=) c.1221C>T (p.Arg407=) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.38351614T>A | CA391934766 | SPRED1 | c.1285T>A (p.Cys429Ser) c.1321T>A (p.Cys441Ser) c.1063T>A (p.Cys355Ser) c.1222T>A (p.Cys408Ser) | |
15 | g.38351614T>C | CA391934767 | SPRED1 | c.1285T>C (p.Cys429Arg) c.1321T>C (p.Cys441Arg) c.1063T>C (p.Cys355Arg) c.1222T>C (p.Cys408Arg) | ClinVar |
15 | g.38351614T>G | CA391934768 | SPRED1 | c.1285T>G (p.Cys429Gly) c.1321T>G (p.Cys441Gly) c.1063T>G (p.Cys355Gly) c.1222T>G (p.Cys408Gly) | |
15 | g.38351615G>A | CA391934769 | SPRED1 | c.1286G>A (p.Cys429Tyr) c.1322G>A (p.Cys441Tyr) c.1064G>A (p.Cys355Tyr) c.1223G>A (p.Cys408Tyr) | |
15 | g.38351615G>C | CA391934770 | SPRED1 | c.1286G>C (p.Cys429Ser) c.1322G>C (p.Cys441Ser) c.1064G>C (p.Cys355Ser) c.1223G>C (p.Cys408Ser) | |
15 | g.38351615G>T | CA391934771 | SPRED1 | c.1286G>T (p.Cys429Phe) c.1322G>T (p.Cys441Phe) c.1064G>T (p.Cys355Phe) c.1223G>T (p.Cys408Phe) | |
15 | g.38351616T>A | CA391934772 | SPRED1 | c.1287T>A (p.Cys429Ter) c.1323T>A (p.Cys441Ter) c.1065T>A (p.Cys355Ter) c.1224T>A (p.Cys408Ter) | |
15 | g.38351616T>C | CA490012656 | SPRED1 | c.1287T>C (p.Cys429=) c.1323T>C (p.Cys441=) c.1065T>C (p.Cys355=) c.1224T>C (p.Cys408=) | ClinVar |
15 | g.38351616T>G | CA391934773 | SPRED1 | c.1287T>G (p.Cys429Trp) c.1323T>G (p.Cys441Trp) c.1065T>G (p.Cys355Trp) c.1224T>G (p.Cys408Trp) | |
15 | g.38351618_38351627del | CA658761266 | SPRED1 | c.1289_1298del (p.Gly430ValfsTer29) c.1325_1334del (p.Gly442ValfsTer29) c.1067_1076del (p.Gly356ValfsTer29) c.1226_1235del (p.Gly409ValfsTer29) | |
15 | g.38351617G>A | CA391934774 | SPRED1 | c.1288G>A (p.Gly430Ser) c.1324G>A (p.Gly442Ser) c.1066G>A (p.Gly356Ser) c.1225G>A (p.Gly409Ser) | |
15 | g.38351617G>C | CA391934775 | SPRED1 | c.1288G>C (p.Gly430Arg) c.1324G>C (p.Gly442Arg) c.1066G>C (p.Gly356Arg) c.1225G>C (p.Gly409Arg) | |
15 | g.38351617G>T | CA391934776 | SPRED1 | c.1288G>T (p.Gly430Cys) c.1324G>T (p.Gly442Cys) c.1066G>T (p.Gly356Cys) c.1225G>T (p.Gly409Cys) | |
15 | g.38351618G>A | CA391934778 | SPRED1 | c.1289G>A (p.Gly430Asp) c.1325G>A (p.Gly442Asp) c.1067G>A (p.Gly356Asp) c.1226G>A (p.Gly409Asp) | |
15 | g.38351618G>C | CA7470258 | SPRED1 | c.1289G>C (p.Gly430Ala) c.1325G>C (p.Gly442Ala) c.1067G>C (p.Gly356Ala) c.1226G>C (p.Gly409Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.38351618G= | CA2170812784 | SPRED1 | c.1289G= (p.Gly430=) c.1325G= (p.Gly442=) c.1067G= (p.Gly356=) c.1226G= (p.Gly409=) | |
15 | g.38351618G>T | CA391934777 | SPRED1 | c.1289G>T (p.Gly430Val) c.1325G>T (p.Gly442Val) c.1067G>T (p.Gly356Val) c.1226G>T (p.Gly409Val) | |
15 | g.38351619T>A | CA490012659 | SPRED1 | c.1290T>A (p.Gly430=) c.1326T>A (p.Gly442=) c.1068T>A (p.Gly356=) c.1227T>A (p.Gly409=) | |
15 | g.38351619T>C | CA490012660 | SPRED1 | c.1290T>C (p.Gly430=) c.1326T>C (p.Gly442=) c.1068T>C (p.Gly356=) c.1227T>C (p.Gly409=) | |
15 | g.38351619T>G | CA490012661 | SPRED1 | c.1290T>G (p.Gly430=) c.1326T>G (p.Gly442=) c.1068T>G (p.Gly356=) c.1227T>G (p.Gly409=) | gnomAD v4 |
15 | g.38351620G>A | CA391934781 | SPRED1 | c.1291G>A (p.Glu431Lys) c.1327G>A (p.Glu443Lys) c.1069G>A (p.Glu357Lys) c.1228G>A (p.Glu410Lys) | |
15 | g.38351620G>C | CA391934779 | SPRED1 | c.1291G>C (p.Glu431Gln) c.1327G>C (p.Glu443Gln) c.1069G>C (p.Glu357Gln) c.1228G>C (p.Glu410Gln) | |
15 | g.38351620G>T | CA391934780 | SPRED1 | c.1291G>T (p.Glu431Ter) c.1327G>T (p.Glu443Ter) c.1069G>T (p.Glu357Ter) c.1228G>T (p.Glu410Ter) | |
15 | g.38351621A>C | CA391934782 | SPRED1 | c.1292A>C (p.Glu431Ala) c.1328A>C (p.Glu443Ala) c.1070A>C (p.Glu357Ala) c.1229A>C (p.Glu410Ala) | |
15 | g.38351621A>G | CA391934783 | SPRED1 | c.1292A>G (p.Glu431Gly) c.1328A>G (p.Glu443Gly) c.1070A>G (p.Glu357Gly) c.1229A>G (p.Glu410Gly) | |
15 | g.38351621A>T | CA391934784 | SPRED1 | c.1292A>T (p.Glu431Val) c.1328A>T (p.Glu443Val) c.1070A>T (p.Glu357Val) c.1229A>T (p.Glu410Val) | |
15 | g.38351622G>A | CA490012664 | SPRED1 | c.1293G>A (p.Glu431=) c.1329G>A (p.Glu443=) c.1071G>A (p.Glu357=) c.1230G>A (p.Glu410=) | gnomAD v4 |
15 | g.38351622G>C | CA391934785 | SPRED1 | c.1293G>C (p.Glu431Asp) c.1329G>C (p.Glu443Asp) c.1071G>C (p.Glu357Asp) c.1230G>C (p.Glu410Asp) | |
15 | g.38351622G>T | CA391934786 | SPRED1 | c.1293G>T (p.Glu431Asp) c.1329G>T (p.Glu443Asp) c.1071G>T (p.Glu357Asp) c.1230G>T (p.Glu410Asp) | |
15 | g.38351623dup | CA2838538504 | SPRED1 | c.1294dup (p.Ala432GlyfsTer10) c.1330dup (p.Ala444GlyfsTer10) c.1072dup (p.Ala358GlyfsTer10) c.1231dup (p.Ala411GlyfsTer10) | |
15 | g.38351623G>A | CA391934787 | SPRED1 | c.1294G>A (p.Ala432Thr) c.1330G>A (p.Ala444Thr) c.1072G>A (p.Ala358Thr) c.1231G>A (p.Ala411Thr) | |
15 | g.38351623G>C | CA391934788 | SPRED1 | c.1294G>C (p.Ala432Pro) c.1330G>C (p.Ala444Pro) c.1072G>C (p.Ala358Pro) c.1231G>C (p.Ala411Pro) | |
15 | g.38351623G>T | CA391934789 | SPRED1 | c.1294G>T (p.Ala432Ser) c.1330G>T (p.Ala444Ser) c.1072G>T (p.Ala358Ser) c.1231G>T (p.Ala411Ser) | |
15 | g.38351624C>A | CA391934790 | SPRED1 | c.1295C>A (p.Ala432Glu) c.1331C>A (p.Ala444Glu) c.1073C>A (p.Ala358Glu) c.1232C>A (p.Ala411Glu) | |
15 | g.38351624C= | CA2170812785 | SPRED1 | c.1295C= (p.Ala432=) c.1331C= (p.Ala444=) c.1073C= (p.Ala358=) c.1232C= (p.Ala411=) | |
15 | g.38351624C>G | CA391934791 | SPRED1 | c.1295C>G (p.Ala432Gly) c.1331C>G (p.Ala444Gly) c.1073C>G (p.Ala358Gly) c.1232C>G (p.Ala411Gly) | |
15 | g.38351624C>T | CA7470259 | SPRED1 | c.1295C>T (p.Ala432Val) c.1331C>T (p.Ala444Val) c.1073C>T (p.Ala358Val) c.1232C>T (p.Ala411Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.38351625A>C | CA489922951 | SPRED1 | c.1296A>C (p.Ala432=) c.1332A>C (p.Ala444=) c.1074A>C (p.Ala358=) c.1233A>C (p.Ala411=) | |
15 | g.38351625A>G | CA489922952 | SPRED1 | c.1296A>G (p.Ala432=) c.1332A>G (p.Ala444=) c.1074A>G (p.Ala358=) c.1233A>G (p.Ala411=) | ClinVar dbSNP gnomAD v4 |
15 | g.38351625A>T | CA489922953 | SPRED1 | c.1296A>T (p.Ala432=) c.1332A>T (p.Ala444=) c.1074A>T (p.Ala358=) c.1233A>T (p.Ala411=) | |
15 | g.38351626T>A | CA391934794 | SPRED1 | c.1297T>A (p.Cys433Ser) c.1333T>A (p.Cys445Ser) c.1075T>A (p.Cys359Ser) c.1234T>A (p.Cys412Ser) | |
15 | g.38351626T>C | CA391934792 | SPRED1 | c.1297T>C (p.Cys433Arg) c.1333T>C (p.Cys445Arg) c.1075T>C (p.Cys359Arg) c.1234T>C (p.Cys412Arg) | |
15 | g.38351626T>G | CA391934793 | SPRED1 | c.1297T>G (p.Cys433Gly) c.1333T>G (p.Cys445Gly) c.1075T>G (p.Cys359Gly) c.1234T>G (p.Cys412Gly) | |
15 | g.38351626_38351629delinsTGTG | CA2170812786 | SPRED1 | c.1297_1300delinsTGTG (p.Cys433=) c.1333_1336delinsTGTG (p.Cys445=) c.1075_1078delinsTGTG (p.Cys359=) c.1234_1237delinsTGTG (p.Cys412=) | |
15 | g.38351627G>A | CA7470260 | SPRED1 | c.1298G>A (p.Cys433Tyr) c.1334G>A (p.Cys445Tyr) c.1076G>A (p.Cys359Tyr) c.1235G>A (p.Cys412Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.38351627G>C | CA391934795 | SPRED1 | c.1298G>C (p.Cys433Ser) c.1334G>C (p.Cys445Ser) c.1076G>C (p.Cys359Ser) c.1235G>C (p.Cys412Ser) | |
15 | g.38351627G= | CA2170812787 | SPRED1 | c.1298G= (p.Cys433=) c.1334G= (p.Cys445=) c.1076G= (p.Cys359=) c.1235G= (p.Cys412=) | |
15 | g.38351627G>T | CA391934796 | SPRED1 | c.1298G>T (p.Cys433Phe) c.1334G>T (p.Cys445Phe) c.1076G>T (p.Cys359Phe) c.1235G>T (p.Cys412Phe) | |
15 | g.38351629_38351631del | CA968818059 | SPRED1 | c.1300_1302del (p.Gly434del) c.1336_1338del (p.Gly446del) c.1078_1080del (p.Gly360del) c.1237_1239del (p.Gly413del) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.38351628T>A | CA391934797 | SPRED1 | c.1299T>A (p.Cys433Ter) c.1335T>A (p.Cys445Ter) c.1077T>A (p.Cys359Ter) c.1236T>A (p.Cys412Ter) | |
15 | g.38351628T>C | CA489922954 | SPRED1 | c.1299T>C (p.Cys433=) c.1335T>C (p.Cys445=) c.1077T>C (p.Cys359=) c.1236T>C (p.Cys412=) | ClinVar dbSNP |
15 | g.38351628T>G | CA391934798 | SPRED1 | c.1299T>G (p.Cys433Trp) c.1335T>G (p.Cys445Trp) c.1077T>G (p.Cys359Trp) c.1236T>G (p.Cys412Trp) | |
15 | g.38351629G>A | CA391934799 | SPRED1 | c.1300G>A (p.Gly434Ser) c.1336G>A (p.Gly446Ser) c.1078G>A (p.Gly360Ser) c.1237G>A (p.Gly413Ser) | gnomAD v4 |
15 | g.38351629G>C | CA391934800 | SPRED1 | c.1300G>C (p.Gly434Arg) c.1336G>C (p.Gly446Arg) c.1078G>C (p.Gly360Arg) c.1237G>C (p.Gly413Arg) | |
15 | g.38351629G>T | CA391934801 | SPRED1 | c.1300G>T (p.Gly434Cys) c.1336G>T (p.Gly446Cys) c.1078G>T (p.Gly360Cys) c.1237G>T (p.Gly413Cys) | ClinVar gnomAD v4 |
15 | g.38351630G>A | CA391934802 | SPRED1 | c.1301G>A (p.Gly434Asp) c.1337G>A (p.Gly446Asp) c.1079G>A (p.Gly360Asp) c.1238G>A (p.Gly413Asp) | gnomAD v4 |
15 | g.38351630G>C | CA391934803 | SPRED1 | c.1301G>C (p.Gly434Ala) c.1337G>C (p.Gly446Ala) c.1079G>C (p.Gly360Ala) c.1238G>C (p.Gly413Ala) | |
15 | g.38351630G= | CA2170812788 | SPRED1 | c.1301G= (p.Gly434=) c.1337G= (p.Gly446=) c.1079G= (p.Gly360=) c.1238G= (p.Gly413=) | |
15 | g.38351630G>T | CA7470261 | SPRED1 | c.1301G>T (p.Gly434Val) c.1337G>T (p.Gly446Val) c.1079G>T (p.Gly360Val) c.1238G>T (p.Gly413Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.38351631T>A | CA489922955 | SPRED1 | c.1302T>A (p.Gly434=) c.1338T>A (p.Gly446=) c.1080T>A (p.Gly360=) c.1239T>A (p.Gly413=) | |
15 | g.38351631T>C | CA489922956 | SPRED1 | c.1302T>C (p.Gly434=) c.1338T>C (p.Gly446=) c.1080T>C (p.Gly360=) c.1239T>C (p.Gly413=) | |
15 | g.38351631T>G | CA489922957 | SPRED1 | c.1302T>G (p.Gly434=) c.1338T>G (p.Gly446=) c.1080T>G (p.Gly360=) c.1239T>G (p.Gly413=) | |
15 | g.38351632T>A | CA391934806 | SPRED1 | c.1303T>A (p.Cys435Ser) c.1339T>A (p.Cys447Ser) c.1081T>A (p.Cys361Ser) c.1240T>A (p.Cys414Ser) | |
15 | g.38351632T>C | CA391934805 | SPRED1 | c.1303T>C (p.Cys435Arg) c.1339T>C (p.Cys447Arg) c.1081T>C (p.Cys361Arg) c.1240T>C (p.Cys414Arg) | |
15 | g.38351632T>G | CA391934804 | SPRED1 | c.1303T>G (p.Cys435Gly) c.1339T>G (p.Cys447Gly) c.1081T>G (p.Cys361Gly) c.1240T>G (p.Cys414Gly) | |
15 | g.38351633G>A | CA391934807 | SPRED1 | c.1304G>A (p.Cys435Tyr) c.1340G>A (p.Cys447Tyr) c.1082G>A (p.Cys361Tyr) c.1241G>A (p.Cys414Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.38351633G>C | CA391934808 | SPRED1 | c.1304G>C (p.Cys435Ser) c.1340G>C (p.Cys447Ser) c.1082G>C (p.Cys361Ser) c.1241G>C (p.Cys414Ser) | |
15 | g.38351633G= | CA2170812789 | SPRED1 | c.1304G= (p.Cys435=) c.1340G= (p.Cys447=) c.1082G= (p.Cys361=) c.1241G= (p.Cys414=) | |
15 | g.38351633G>T | CA391934809 | SPRED1 | c.1304G>T (p.Cys435Phe) c.1340G>T (p.Cys447Phe) c.1082G>T (p.Cys361Phe) c.1241G>T (p.Cys414Phe) | gnomAD v4 COSMIC |
15 | g.38351634C>A | CA391934810 | SPRED1 | c.1305C>A (p.Cys435Ter) c.1341C>A (p.Cys447Ter) c.1083C>A (p.Cys361Ter) c.1242C>A (p.Cys414Ter) | |
15 | g.38351634C>G | CA391934811 | SPRED1 | c.1305C>G (p.Cys435Trp) c.1341C>G (p.Cys447Trp) c.1083C>G (p.Cys361Trp) c.1242C>G (p.Cys414Trp) | |
15 | g.38351634C>T | CA489922958 | SPRED1 | c.1305C>T (p.Cys435=) c.1341C>T (p.Cys447=) c.1083C>T (p.Cys361=) c.1242C>T (p.Cys414=) | |
15 | g.38351635T>A | CA391934812 | SPRED1 | c.1306T>A (p.Cys436Ser) c.1342T>A (p.Cys448Ser) c.1084T>A (p.Cys362Ser) c.1243T>A (p.Cys415Ser) | |
15 | g.38351635T>C | CA391934813 | SPRED1 | c.1306T>C (p.Cys436Arg) c.1342T>C (p.Cys448Arg) c.1084T>C (p.Cys362Arg) c.1243T>C (p.Cys415Arg) | |
15 | g.38351635T>G | CA391934814 | SPRED1 | c.1306T>G (p.Cys436Gly) c.1342T>G (p.Cys448Gly) c.1084T>G (p.Cys362Gly) c.1243T>G (p.Cys415Gly) | |
15 | g.38351636G>A | CA7470262 | SPRED1 | c.1307G>A (p.Cys436Tyr) c.1343G>A (p.Cys448Tyr) c.1085G>A (p.Cys362Tyr) c.1244G>A (p.Cys415Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.38351636G>C | CA391934815 | SPRED1 | c.1307G>C (p.Cys436Ser) c.1343G>C (p.Cys448Ser) c.1085G>C (p.Cys362Ser) c.1244G>C (p.Cys415Ser) | ClinVar |
15 | g.38351636G= | CA2170812790 | SPRED1 | c.1307G= (p.Cys436=) c.1343G= (p.Cys448=) c.1085G= (p.Cys362=) c.1244G= (p.Cys415=) | |
15 | g.38351636G>T | CA391934816 | SPRED1 | c.1307G>T (p.Cys436Phe) c.1343G>T (p.Cys448Phe) c.1085G>T (p.Cys362Phe) c.1244G>T (p.Cys415Phe) | gnomAD v4 |
15 | g.38351637T>A | CA391934817 | SPRED1 | c.1308T>A (p.Cys436Ter) c.1344T>A (p.Cys448Ter) c.1086T>A (p.Cys362Ter) c.1245T>A (p.Cys415Ter) | |
15 | g.38351637T>C | CA489922959 | SPRED1 | c.1308T>C (p.Cys436=) c.1344T>C (p.Cys448=) c.1086T>C (p.Cys362=) c.1245T>C (p.Cys415=) | |
15 | g.38351637T>G | CA391934818 | SPRED1 | c.1308T>G (p.Cys436Trp) c.1344T>G (p.Cys448Trp) c.1086T>G (p.Cys362Trp) c.1245T>G (p.Cys415Trp) | |
15 | g.38351638G>A | CA391934821 | SPRED1 | c.1309G>A (p.Gly437Ser) c.1345G>A (p.Gly449Ser) c.1087G>A (p.Gly363Ser) c.1246G>A (p.Gly416Ser) | |
15 | g.38351638G>C | CA391934819 | SPRED1 | c.1309G>C (p.Gly437Arg) c.1345G>C (p.Gly449Arg) c.1087G>C (p.Gly363Arg) c.1246G>C (p.Gly416Arg) | |
15 | g.38351638G>T | CA391934820 | SPRED1 | c.1309G>T (p.Gly437Cys) c.1345G>T (p.Gly449Cys) c.1087G>T (p.Gly363Cys) c.1246G>T (p.Gly416Cys) | |
15 | g.38351639G>A | CA391934822 | SPRED1 | c.1310G>A (p.Gly437Asp) c.1346G>A (p.Gly449Asp) c.1088G>A (p.Gly363Asp) c.1247G>A (p.Gly416Asp) | |
15 | g.38351639G>C | CA391934823 | SPRED1 | c.1310G>C (p.Gly437Ala) c.1346G>C (p.Gly449Ala) c.1088G>C (p.Gly363Ala) c.1247G>C (p.Gly416Ala) | |
15 | g.38351639G>T | CA391934824 | SPRED1 | c.1310G>T (p.Gly437Val) c.1346G>T (p.Gly449Val) c.1088G>T (p.Gly363Val) c.1247G>T (p.Gly416Val) | |
15 | g.38351640T>A | CA489922960 | SPRED1 | c.1311T>A (p.Gly437=) c.1347T>A (p.Gly449=) c.1089T>A (p.Gly363=) c.1248T>A (p.Gly416=) | |
15 | g.38351640T>C | CA489922961 | SPRED1 | c.1311T>C (p.Gly437=) c.1347T>C (p.Gly449=) c.1089T>C (p.Gly363=) c.1248T>C (p.Gly416=) | |
15 | g.38351640T>G | CA489922962 | SPRED1 | c.1311T>G (p.Gly437=) c.1347T>G (p.Gly449=) c.1089T>G (p.Gly363=) c.1248T>G (p.Gly416=) | |
15 | g.38351641G>A | CA391934825 | SPRED1 | c.1312G>A (p.Gly438Arg) c.1348G>A (p.Gly450Arg) c.1090G>A (p.Gly364Arg) c.1249G>A (p.Gly417Arg) | |
15 | g.38351641G>C | CA391934826 | SPRED1 | c.1312G>C (p.Gly438Arg) c.1348G>C (p.Gly450Arg) c.1090G>C (p.Gly364Arg) c.1249G>C (p.Gly417Arg) | |
15 | g.38351641G>T | CA391934827 | SPRED1 | c.1312G>T (p.Gly438Trp) c.1348G>T (p.Gly450Trp) c.1090G>T (p.Gly364Trp) c.1249G>T (p.Gly417Trp) | |
15 | g.38351642G>A | CA391934828 | SPRED1 | c.1313G>A (p.Gly438Glu) c.1349G>A (p.Gly450Glu) c.1091G>A (p.Gly364Glu) c.1250G>A (p.Gly417Glu) | gnomAD v4 |
15 | g.38351642G>C | CA391934829 | SPRED1 | c.1313G>C (p.Gly438Ala) c.1349G>C (p.Gly450Ala) c.1091G>C (p.Gly364Ala) c.1250G>C (p.Gly417Ala) | |
15 | g.38351642G= | CA2170812791 | SPRED1 | c.1313G= (p.Gly438=) c.1349G= (p.Gly450=) c.1091G= (p.Gly364=) c.1250G= (p.Gly417=) | |
15 | g.38351642G>T | CA7470263 | SPRED1 | c.1313G>T (p.Gly438Val) c.1349G>T (p.Gly450Val) c.1091G>T (p.Gly364Val) c.1250G>T (p.Gly417Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.38351643G>A | CA489922963 | SPRED1 | c.1314G>A (p.Gly438=) c.1350G>A (p.Gly450=) c.1092G>A (p.Gly364=) c.1251G>A (p.Gly417=) | |
15 | g.38351643G>C | CA489922965 | SPRED1 | c.1314G>C (p.Gly438=) c.1350G>C (p.Gly450=) c.1092G>C (p.Gly364=) c.1251G>C (p.Gly417=) | |
15 | g.38351643G>T | CA489922964 | SPRED1 | c.1314G>T (p.Gly438=) c.1350G>T (p.Gly450=) c.1092G>T (p.Gly364=) c.1251G>T (p.Gly417=) | gnomAD v4 |
15 | g.38351644A>C | CA391934830 | SPRED1 | c.1315A>C (p.Lys439Gln) c.1351A>C (p.Lys451Gln) c.1093A>C (p.Lys365Gln) c.1252A>C (p.Lys418Gln) | |
15 | g.38351644A>G | CA391934831 | SPRED1 | c.1315A>G (p.Lys439Glu) c.1351A>G (p.Lys451Glu) c.1093A>G (p.Lys365Glu) c.1252A>G (p.Lys418Glu) | |
15 | g.38351644A>T | CA391934832 | SPRED1 | c.1315A>T (p.Lys439Ter) c.1351A>T (p.Lys451Ter) c.1093A>T (p.Lys365Ter) c.1252A>T (p.Lys418Ter) | |
15 | g.38351645A>C | CA391934835 | SPRED1 | c.1316A>C (p.Lys439Thr) c.1352A>C (p.Lys451Thr) c.1094A>C (p.Lys365Thr) c.1253A>C (p.Lys418Thr) | |
15 | g.38351645A>G | CA391934834 | SPRED1 | c.1316A>G (p.Lys439Arg) c.1352A>G (p.Lys451Arg) c.1094A>G (p.Lys365Arg) c.1253A>G (p.Lys418Arg) | |
15 | g.38351645A>T | CA391934833 | SPRED1 | c.1316A>T (p.Lys439Ile) c.1352A>T (p.Lys451Ile) c.1094A>T (p.Lys365Ile) c.1253A>T (p.Lys418Ile) | |
15 | g.38351646A>C | CA391934836 | SPRED1 | c.1317A>C (p.Lys439Asn) c.1353A>C (p.Lys451Asn) c.1095A>C (p.Lys365Asn) c.1254A>C (p.Lys418Asn) | |
15 | g.38351646A>G | CA489922966 | SPRED1 | c.1317A>G (p.Lys439=) c.1353A>G (p.Lys451=) c.1095A>G (p.Lys365=) c.1254A>G (p.Lys418=) | ClinVar |
15 | g.38351646A>T | CA391934837 | SPRED1 | c.1317A>T (p.Lys439Asn) c.1353A>T (p.Lys451Asn) c.1095A>T (p.Lys365Asn) c.1254A>T (p.Lys418Asn) | |
15 | g.38351647C>A | CA391934838 | SPRED1 | c.1318C>A (p.His440Asn) c.1354C>A (p.His452Asn) c.1096C>A (p.His366Asn) c.1255C>A (p.His419Asn) | |
15 | g.38351647C>G | CA391934840 | SPRED1 | c.1318C>G (p.His440Asp) c.1354C>G (p.His452Asp) c.1096C>G (p.His366Asp) c.1255C>G (p.His419Asp) | |
15 | g.38351647C>T | CA391934839 | SPRED1 | c.1318C>T (p.His440Tyr) c.1354C>T (p.His452Tyr) c.1096C>T (p.His366Tyr) c.1255C>T (p.His419Tyr) | |
15 | g.38351647_38351649delinsCAT | CA2170812792 | SPRED1 | c.1318_1320delinsCAT (p.His440=) c.1354_1356delinsCAT (p.His452=) c.1096_1098delinsCAT (p.His366=) c.1255_1257delinsCAT (p.His419=) | |
15 | g.38351648A>C | CA391934841 | SPRED1 | c.1319A>C (p.His440Pro) c.1355A>C (p.His452Pro) c.1097A>C (p.His366Pro) c.1256A>C (p.His419Pro) | |
15 | g.38351648A>G | CA391934842 | SPRED1 | c.1319A>G (p.His440Arg) c.1355A>G (p.His452Arg) c.1097A>G (p.His366Arg) c.1256A>G (p.His419Arg) | |
15 | g.38351648A>T | CA391934843 | SPRED1 | c.1319A>T (p.His440Leu) c.1355A>T (p.His452Leu) c.1097A>T (p.His366Leu) c.1256A>T (p.His419Leu) | |
15 | g.38351649_38351650del | CA7470264 | SPRED1 | c.1320_1321del (p.His440GlnfsTer23) c.1356_1357del (p.His452GlnfsTer23) c.1098_1099del (p.His366GlnfsTer23) c.1257_1258del (p.His419GlnfsTer23) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.38351649T>A | CA391934844 | SPRED1 | c.1320T>A (p.His440Gln) c.1356T>A (p.His452Gln) c.1098T>A (p.His366Gln) c.1257T>A (p.His419Gln) | |
15 | g.38351649T>C | CA489922967 | SPRED1 | c.1320T>C (p.His440=) c.1356T>C (p.His452=) c.1098T>C (p.His366=) c.1257T>C (p.His419=) | |
15 | g.38351649T>G | CA391934845 | SPRED1 | c.1320T>G (p.His440Gln) c.1356T>G (p.His452Gln) c.1098T>G (p.His366Gln) c.1257T>G (p.His419Gln) | |
15 | g.38351650A>C | CA391934848 | SPRED1 | c.1321A>C (p.Lys441Gln) c.1357A>C (p.Lys453Gln) c.1099A>C (p.Lys367Gln) c.1258A>C (p.Lys420Gln) | |
15 | g.38351650A>G | CA391934846 | SPRED1 | c.1321A>G (p.Lys441Glu) c.1357A>G (p.Lys453Glu) c.1099A>G (p.Lys367Glu) c.1258A>G (p.Lys420Glu) | |
15 | g.38351650A>T | CA391934847 | SPRED1 | c.1321A>T (p.Lys441Ter) c.1357A>T (p.Lys453Ter) c.1099A>T (p.Lys367Ter) c.1258A>T (p.Lys420Ter) | |
15 | g.38351651A>C | CA391934849 | SPRED1 | c.1322A>C (p.Lys441Thr) c.1358A>C (p.Lys453Thr) c.1100A>C (p.Lys367Thr) c.1259A>C (p.Lys420Thr) | |
15 | g.38351651A>G | CA391934850 | SPRED1 | c.1322A>G (p.Lys441Arg) c.1358A>G (p.Lys453Arg) c.1100A>G (p.Lys367Arg) c.1259A>G (p.Lys420Arg) | |
15 | g.38351651A>T | CA391934851 | SPRED1 | c.1322A>T (p.Lys441Ile) c.1358A>T (p.Lys453Ile) c.1100A>T (p.Lys367Ile) c.1259A>T (p.Lys420Ile) | |
15 | g.38351652A>C | CA391934852 | SPRED1 | c.1323A>C (p.Lys441Asn) c.1359A>C (p.Lys453Asn) c.1101A>C (p.Lys367Asn) c.1260A>C (p.Lys420Asn) | |
15 | g.38351652A>G | CA489922968 | SPRED1 | c.1323A>G (p.Lys441=) c.1359A>G (p.Lys453=) c.1101A>G (p.Lys367=) c.1260A>G (p.Lys420=) | |
15 | g.38351652A>T | CA391934853 | SPRED1 | c.1323A>T (p.Lys441Asn) c.1359A>T (p.Lys453Asn) c.1101A>T (p.Lys367Asn) c.1260A>T (p.Lys420Asn) | |
15 | g.38351653G>A | CA7470265 | SPRED1 | c.1324G>A (p.Ala442Thr) c.1360G>A (p.Ala454Thr) c.1102G>A (p.Ala368Thr) c.1261G>A (p.Ala421Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.38351653G>C | CA391934854 | SPRED1 | c.1324G>C (p.Ala442Pro) c.1360G>C (p.Ala454Pro) c.1102G>C (p.Ala368Pro) c.1261G>C (p.Ala421Pro) | |
15 | g.38351653G= | CA2170812793 | SPRED1 | c.1324G= (p.Ala442=) c.1360G= (p.Ala454=) c.1102G= (p.Ala368=) c.1261G= (p.Ala421=) | |
15 | g.38351653G>T | CA391934855 | SPRED1 | c.1324G>T (p.Ala442Ser) c.1360G>T (p.Ala454Ser) c.1102G>T (p.Ala368Ser) c.1261G>T (p.Ala421Ser) | |
15 | g.38351654C>A | CA391934856 | SPRED1 | c.1325C>A (p.Ala442Asp) c.1361C>A (p.Ala454Asp) c.1103C>A (p.Ala368Asp) c.1262C>A (p.Ala421Asp) | |
15 | g.38351654C>G | CA391934857 | SPRED1 | c.1325C>G (p.Ala442Gly) c.1361C>G (p.Ala454Gly) c.1103C>G (p.Ala368Gly) c.1262C>G (p.Ala421Gly) | |
15 | g.38351654C>T | CA391934858 | SPRED1 | c.1325C>T (p.Ala442Val) c.1361C>T (p.Ala454Val) c.1103C>T (p.Ala368Val) c.1262C>T (p.Ala421Val) | |
15 | g.38351655T>A | CA489922969 | SPRED1 | c.1326T>A (p.Ala442=) c.1362T>A (p.Ala454=) c.1104T>A (p.Ala368=) c.1263T>A (p.Ala421=) | |
15 | g.38351655T>C | CA489922970 | SPRED1 | c.1326T>C (p.Ala442=) c.1362T>C (p.Ala454=) c.1104T>C (p.Ala368=) c.1263T>C (p.Ala421=) | |
15 | g.38351655T>G | CA489922971 | SPRED1 | c.1326T>G (p.Ala442=) c.1362T>G (p.Ala454=) c.1104T>G (p.Ala368=) c.1263T>G (p.Ala421=) | |
15 | g.38351656G>A | CA391934859 | SPRED1 | c.1327G>A (p.Ala443Thr) c.1363G>A (p.Ala455Thr) c.1105G>A (p.Ala369Thr) c.1264G>A (p.Ala422Thr) | |
15 | g.38351656G>C | CA391934860 | SPRED1 | c.1327G>C (p.Ala443Pro) c.1363G>C (p.Ala455Pro) c.1105G>C (p.Ala369Pro) c.1264G>C (p.Ala422Pro) | ClinVar gnomAD v4 |
15 | g.38351656G>T | CA391934861 | SPRED1 | c.1327G>T (p.Ala443Ser) c.1363G>T (p.Ala455Ser) c.1105G>T (p.Ala369Ser) c.1264G>T (p.Ala422Ser) | |
15 | g.38351657C>A | CA391934862 | SPRED1 | c.1328C>A (p.Ala443Asp) c.1364C>A (p.Ala455Asp) c.1106C>A (p.Ala369Asp) c.1265C>A (p.Ala422Asp) | |
15 | g.38351657C>G | CA391934863 | SPRED1 | c.1328C>G (p.Ala443Gly) c.1364C>G (p.Ala455Gly) c.1106C>G (p.Ala369Gly) c.1265C>G (p.Ala422Gly) | |
15 | g.38351657C>T | CA391934864 | SPRED1 | c.1328C>T (p.Ala443Val) c.1364C>T (p.Ala455Val) c.1106C>T (p.Ala369Val) c.1265C>T (p.Ala422Val) | |
15 | g.38351658T>A | CA489922972 | SPRED1 | c.1329T>A (p.Ala443=) c.1365T>A (p.Ala455=) c.1107T>A (p.Ala369=) c.1266T>A (p.Ala422=) | ClinVar |
15 | g.38351658T>C | CA489922973 | SPRED1 | c.1329T>C (p.Ala443=) c.1365T>C (p.Ala455=) c.1107T>C (p.Ala369=) c.1266T>C (p.Ala422=) | |
15 | g.38351658T>G | CA489922974 | SPRED1 | c.1329T>G (p.Ala443=) c.1365T>G (p.Ala455=) c.1107T>G (p.Ala369=) c.1266T>G (p.Ala422=) | |
15 | g.38351659G>A | CA391934865 | SPRED1 | c.1330G>A (p.Gly444Arg) c.1366G>A (p.Gly456Arg) c.1108G>A (p.Gly370Arg) c.1267G>A (p.Gly423Arg) | ClinVar |
15 | g.38351659G>C | CA391934866 | SPRED1 | c.1330G>C (p.Gly444Arg) c.1366G>C (p.Gly456Arg) c.1108G>C (p.Gly370Arg) c.1267G>C (p.Gly423Arg) | |
15 | g.38351659G>T | CA391934867 | SPRED1 | c.1330G>T (p.Gly444Ter) c.1366G>T (p.Gly456Ter) c.1108G>T (p.Gly370Ter) c.1267G>T (p.Gly423Ter) | |
15 | g.38351660G>A | CA391934868 | SPRED1 | c.1331G>A (p.Gly444Glu) c.1367G>A (p.Gly456Glu) c.1109G>A (p.Gly370Glu) c.1268G>A (p.Gly423Glu) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
15 | g.38351660G>C | CA391934870 | SPRED1 | c.1331G>C (p.Gly444Ala) c.1367G>C (p.Gly456Ala) c.1109G>C (p.Gly370Ala) c.1268G>C (p.Gly423Ala) | gnomAD v4 |
15 | g.38351660G= | CA2170812794 | SPRED1 | c.1331G= (p.Gly444=) c.1367G= (p.Gly456=) c.1109G= (p.Gly370=) c.1268G= (p.Gly423=) | |
15 | g.38351660G>T | CA391934869 | SPRED1 | c.1331G>T (p.Gly444Val) c.1367G>T (p.Gly456Val) c.1109G>T (p.Gly370Val) c.1268G>T (p.Gly423Val) | |
15 | g.38351661A= | CA2170812795 | SPRED1 | c.1332A= (p.Gly444=) c.1368A= (p.Gly456=) c.1110A= (p.Gly370=) c.1269A= (p.Gly423=) | |
15 | g.38351661A>C | CA489922975 | SPRED1 | c.1332A>C (p.Gly444=) c.1368A>C (p.Gly456=) c.1110A>C (p.Gly370=) c.1269A>C (p.Gly423=) | |
15 | g.38351661A>G | CA489922976 | SPRED1 | c.1332A>G (p.Gly444=) c.1368A>G (p.Gly456=) c.1110A>G (p.Gly370=) c.1269A>G (p.Gly423=) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.38351661A>T | CA489922977 | SPRED1 | c.1332A>T (p.Gly444=) c.1368A>T (p.Gly456=) c.1110A>T (p.Gly370=) c.1269A>T (p.Gly423=) | |
15 | g.38351662T>A | CA391934871 | SPRED1 | c.1333T>A (p.Ter445Arg) c.1369T>A (p.Ter457Arg) c.1111T>A (p.Ter371Arg) c.1270T>A (p.Ter424Arg) | |
15 | g.38351662T>C | CA391934872 | SPRED1 | c.1333T>C (p.Ter445Arg) c.1369T>C (p.Ter457Arg) c.1111T>C (p.Ter371Arg) c.1270T>C (p.Ter424Arg) | |
15 | g.38351662T>G | CA391934873 | SPRED1 | c.1333T>G (p.Ter445Gly) c.1369T>G (p.Ter457Gly) c.1111T>G (p.Ter371Gly) c.1270T>G (p.Ter424Gly) | |
15 | g.38351663G>A | CA489922978 | SPRED1 | c.1334G>A (p.Ter445=) c.1370G>A (p.Ter457=) c.1112G>A (p.Ter371=) c.1271G>A (p.Ter424=) | |
15 | g.38351663G>C | CA391934874 | SPRED1 | c.1334G>C (p.Ter445Ser) c.1370G>C (p.Ter457Ser) c.1112G>C (p.Ter371Ser) c.1271G>C (p.Ter424Ser) | |
15 | g.38351663G>T | CA391934875 | SPRED1 | c.1334G>T (p.Ter445Leu) c.1370G>T (p.Ter457Leu) c.1112G>T (p.Ter371Leu) c.1271G>T (p.Ter424Leu) | |
15 | g.38351664A>C | CA391934876 | SPRED1 | c.1335A>C (p.Ter445Cys) c.1371A>C (p.Ter457Cys) c.1113A>C (p.Ter371Cys) c.1272A>C (p.Ter424Cys) | |
15 | g.38351664A>G | CA391934877 | SPRED1 | c.1335A>G (p.Ter445Trp) c.1371A>G (p.Ter457Trp) c.1113A>G (p.Ter371Trp) c.1272A>G (p.Ter424Trp) | gnomAD v4 |
15 | g.38351664A>T | CA391934878 | SPRED1 | c.1335A>T (p.Ter445Cys) c.1371A>T (p.Ter457Cys) c.1113A>T (p.Ter371Cys) c.1272A>T (p.Ter424Cys) | |
15 | g.38351665_38351666insTC | CA2564237004 | SPRED1 | c.*1_*2insTC (n.*1_*2insTC) | |
15 | g.38351666A= | CA2170812796 | SPRED1 | c.*2A= (n.*2A=) | |
15 | g.38351666A>C | CA7470266 | SPRED1 | c.*2A>C (n.*2A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.38351667T>G | CA2575673318 | SPRED1 | c.*3T>G (n.*3T>G) | |
15 | g.38351667_38351668del | CA2518566125 | SPRED1 | c.*3_*4del (n.*3_*4del) | |
15 | g.38351668G>A | CA2170812798 | SPRED1 | c.*4G>A (n.*4G>A) | dbSNP |
15 | g.38351668G>C | CA2575673319 | SPRED1 | c.*4G>C (n.*4G>C) | |
15 | g.38351668G= | CA2170812797 | SPRED1 | c.*4G= (n.*4G=) | |
15 | g.38351668G>T | CA2575673320 | SPRED1 | c.*4G>T (n.*4G>T) | gnomAD v4 |
15 | g.38351669G>A | CA617506035 | SPRED1 | c.*5G>A (n.*5G>A) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.38351669G= | CA2170812799 | SPRED1 | c.*5G= (n.*5G=) | |
15 | g.38351669G>T | CA2170812800 | SPRED1 | c.*5G>T (n.*5G>T) | dbSNP gnomAD v4 |
15 | g.38351670T>C | CA2627716214 | SPRED1 | c.*6T>C (n.*6T>C) | gnomAD v4 |
15 | g.38351670T>G | CA2627716215 | SPRED1 | c.*6T>G (n.*6T>G) | gnomAD v4 |
15 | g.38351671C= | CA2170812801 | SPRED1 | c.*7C= (n.*7C=) | |
15 | g.38351671C>T | CA2170812802 | SPRED1 | c.*7C>T (n.*7C>T) | dbSNP gnomAD v4 |
15 | g.38351672dup | CA2840660288 | SPRED1 | c.*8dup (n.*8dup) | |
15 | g.38351672C>T | CA2565543396 | SPRED1 | c.*8C>T (n.*8C>T) | gnomAD v4 |
15 | g.38351673A= | CA2170812803 | SPRED1 | c.*9A= (n.*9A=) | |
15 | g.38351673A>G | CA617506037 | SPRED1 | c.*9A>G (n.*9A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.38351673A>T | CA2543642624 | SPRED1 | c.*9A>T (n.*9A>T) |