| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.143728337_143728375del | CA2688980879 | FAM83H | c.1088_1126del (p.Pro363_Pro375del) c.1691_1729del (p.Pro564_Pro576del) c.268_306del c.1145_1183del (p.Pro382_Pro394del) c.1106_1144del (p.Pro369_Pro381del) c.1409_1447del (p.Pro470_Pro482del) c.1256_1294del (p.Pro419_Pro431del) | gnomAD v4 |
| 8 | g.143728361_143728370dup | CA2688980923 | FAM83H | c.1093_1102dup (p.Glu368GlyfsTer?) c.1696_1705dup (p.Glu569GlyfsTer?) c.273_282dup c.1150_1159dup (p.Glu387GlyfsTer?) c.1111_1120dup (p.Glu374GlyfsTer?) c.1414_1423dup (p.Glu475GlyfsTer?) c.1261_1270dup (p.Glu424GlyfsTer?) | gnomAD v4 |
| 8 | g.143728362G>A | CA4917517 | FAM83H | c.1099C>T (p.Leu367=) c.1702C>T (p.Leu568=) c.279C>T c.1156C>T (p.Leu386=) c.1117C>T (p.Leu373=) c.1420C>T (p.Leu474=) c.1267C>T (p.Leu423=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728362G>C | CA372468600 | FAM83H | c.1099C>G (p.Leu367Val) c.1702C>G (p.Leu568Val) c.279C>G c.1156C>G (p.Leu386Val) c.1117C>G (p.Leu373Val) c.1420C>G (p.Leu474Val) c.1267C>G (p.Leu423Val) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.143728362G= | CA1825940718 | FAM83H | c.1099C= (p.Leu367=) c.1702C= (p.Leu568=) c.279C= c.1156C= (p.Leu386=) c.1117C= (p.Leu373=) c.1420C= (p.Leu474=) c.1267C= (p.Leu423=) | |
| 8 | g.143728362G>T | CA372468601 | FAM83H | c.1099C>A (p.Leu367Met) c.1702C>A (p.Leu568Met) c.279C>A c.1156C>A (p.Leu386Met) c.1117C>A (p.Leu373Met) c.1420C>A (p.Leu474Met) c.1267C>A (p.Leu423Met) | |
| 8 | g.143728363C>A | CA463519609 | FAM83H | c.1098G>T (p.Ala366=) c.1701G>T (p.Ala567=) c.278G>T c.1155G>T (p.Ala385=) c.1116G>T (p.Ala372=) c.1419G>T (p.Ala473=) c.1266G>T (p.Ala422=) | gnomAD v4 |
| 8 | g.143728363C= | CA1825940719 | FAM83H | c.1098G= (p.Ala366=) c.1701G= (p.Ala567=) c.278G= c.1155G= (p.Ala385=) c.1116G= (p.Ala372=) c.1419G= (p.Ala473=) c.1266G= (p.Ala422=) | |
| 8 | g.143728363C>G | CA463519610 | FAM83H | c.1098G>C (p.Ala366=) c.1701G>C (p.Ala567=) c.278G>C c.1155G>C (p.Ala385=) c.1116G>C (p.Ala372=) c.1419G>C (p.Ala473=) c.1266G>C (p.Ala422=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.143728363C>T | CA463519611 | FAM83H | c.1098G>A (p.Ala366=) c.1701G>A (p.Ala567=) c.278G>A c.1155G>A (p.Ala385=) c.1116G>A (p.Ala372=) c.1419G>A (p.Ala473=) c.1266G>A (p.Ala422=) | dbSNP gnomAD v4 |
| 8 | g.143728364G>A | CA372468602 | FAM83H | c.1097C>T (p.Ala366Val) c.1700C>T (p.Ala567Val) c.277C>T c.1154C>T (p.Ala385Val) c.1115C>T (p.Ala372Val) c.1418C>T (p.Ala473Val) c.1265C>T (p.Ala422Val) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.143728364G>C | CA372468603 | FAM83H | c.1097C>G (p.Ala366Gly) c.1700C>G (p.Ala567Gly) c.277C>G c.1154C>G (p.Ala385Gly) c.1115C>G (p.Ala372Gly) c.1418C>G (p.Ala473Gly) c.1265C>G (p.Ala422Gly) | |
| 8 | g.143728364G= | CA1825940720 | FAM83H | c.1097C= (p.Ala366=) c.1700C= (p.Ala567=) c.277C= c.1154C= (p.Ala385=) c.1115C= (p.Ala372=) c.1418C= (p.Ala473=) c.1265C= (p.Ala422=) | |
| 8 | g.143728364G>T | CA4917518 | FAM83H | c.1097C>A (p.Ala366Glu) c.1700C>A (p.Ala567Glu) c.277C>A c.1154C>A (p.Ala385Glu) c.1115C>A (p.Ala372Glu) c.1418C>A (p.Ala473Glu) c.1265C>A (p.Ala422Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.143728365C>A | CA372468606 | FAM83H | c.1096G>T (p.Ala366Ser) c.1699G>T (p.Ala567Ser) c.276G>T c.1153G>T (p.Ala385Ser) c.1114G>T (p.Ala372Ser) c.1417G>T (p.Ala473Ser) c.1264G>T (p.Ala422Ser) | |
| 8 | g.143728365C= | CA1825940721 | FAM83H | c.1096G= (p.Ala366=) c.1699G= (p.Ala567=) c.276G= c.1153G= (p.Ala385=) c.1114G= (p.Ala372=) c.1417G= (p.Ala473=) c.1264G= (p.Ala422=) | |
| 8 | g.143728365C>G | CA4917519 | FAM83H | c.1096G>C (p.Ala366Pro) c.1699G>C (p.Ala567Pro) c.276G>C c.1153G>C (p.Ala385Pro) c.1114G>C (p.Ala372Pro) c.1417G>C (p.Ala473Pro) c.1264G>C (p.Ala422Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728365C>T | CA4917520 | FAM83H | c.1096G>A (p.Ala366Thr) c.1699G>A (p.Ala567Thr) c.276G>A c.1153G>A (p.Ala385Thr) c.1114G>A (p.Ala372Thr) c.1417G>A (p.Ala473Thr) c.1264G>A (p.Ala422Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728366G>A | CA463519613 | FAM83H | c.1095C>T (p.Gly365=) c.1698C>T (p.Gly566=) c.275C>T c.1152C>T (p.Gly384=) c.1113C>T (p.Gly371=) c.1416C>T (p.Gly472=) c.1263C>T (p.Gly421=) | dbSNP |
| 8 | g.143728366G>C | CA463519612 | FAM83H | c.1095C>G (p.Gly365=) c.1698C>G (p.Gly566=) c.275C>G c.1152C>G (p.Gly384=) c.1113C>G (p.Gly371=) c.1416C>G (p.Gly472=) c.1263C>G (p.Gly421=) | |
| 8 | g.143728366G= | CA1825940722 | FAM83H | c.1095C= (p.Gly365=) c.1698C= (p.Gly566=) c.275C= c.1152C= (p.Gly384=) c.1113C= (p.Gly371=) c.1416C= (p.Gly472=) c.1263C= (p.Gly421=) | |
| 8 | g.143728366G>T | CA463519614 | FAM83H | c.1095C>A (p.Gly365=) c.1698C>A (p.Gly566=) c.275C>A c.1152C>A (p.Gly384=) c.1113C>A (p.Gly371=) c.1416C>A (p.Gly472=) c.1263C>A (p.Gly421=) | |
| 8 | g.143728367C>A | CA372468609 | FAM83H | c.1094G>T (p.Gly365Val) c.1697G>T (p.Gly566Val) c.274G>T c.1151G>T (p.Gly384Val) c.1112G>T (p.Gly371Val) c.1415G>T (p.Gly472Val) c.1262G>T (p.Gly421Val) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.143728367C= | CA1825940723 | FAM83H | c.1094G= (p.Gly365=) c.1697G= (p.Gly566=) c.274G= c.1151G= (p.Gly384=) c.1112G= (p.Gly371=) c.1415G= (p.Gly472=) c.1262G= (p.Gly421=) | |
| 8 | g.143728367C>G | CA372468610 | FAM83H | c.1094G>C (p.Gly365Ala) c.1697G>C (p.Gly566Ala) c.274G>C c.1151G>C (p.Gly384Ala) c.1112G>C (p.Gly371Ala) c.1415G>C (p.Gly472Ala) c.1262G>C (p.Gly421Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.143728367C>T | CA372468611 | FAM83H | c.1094G>A (p.Gly365Asp) c.1697G>A (p.Gly566Asp) c.274G>A c.1151G>A (p.Gly384Asp) c.1112G>A (p.Gly371Asp) c.1415G>A (p.Gly472Asp) c.1262G>A (p.Gly421Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728372dup | CA585729878 | FAM83H | c.1094dup (p.Ala366ArgfsTer?) c.1697dup (p.Ala567ArgfsTer?) c.274dup c.1151dup (p.Ala385ArgfsTer?) c.1112dup (p.Ala372ArgfsTer?) c.1415dup (p.Ala473ArgfsTer?) c.1262dup (p.Ala422ArgfsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728372del | CA585729879 | FAM83H | c.1094del (p.Gly365AlafsTer?) c.1697del (p.Gly566AlafsTer?) c.274del c.1151del (p.Gly384AlafsTer?) c.1112del (p.Gly371AlafsTer?) c.1415del (p.Gly472AlafsTer?) c.1262del (p.Gly421AlafsTer?) | gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.143728368C>A | CA372468612 | FAM83H | c.1093G>T (p.Gly365Cys) c.1696G>T (p.Gly566Cys) c.273G>T c.1150G>T (p.Gly384Cys) c.1111G>T (p.Gly371Cys) c.1414G>T (p.Gly472Cys) c.1261G>T (p.Gly421Cys) | dbSNP gnomAD v4 |
| 8 | g.143728368C= | CA1825940724 | FAM83H | c.1093G= (p.Gly365=) c.1696G= (p.Gly566=) c.273G= c.1150G= (p.Gly384=) c.1111G= (p.Gly371=) c.1414G= (p.Gly472=) c.1261G= (p.Gly421=) | |
| 8 | g.143728368C>G | CA4917521 | FAM83H | c.1093G>C (p.Gly365Arg) c.1696G>C (p.Gly566Arg) c.273G>C c.1150G>C (p.Gly384Arg) c.1111G>C (p.Gly371Arg) c.1414G>C (p.Gly472Arg) c.1261G>C (p.Gly421Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728368C>T | CA372468614 | FAM83H | c.1093G>A (p.Gly365Ser) c.1696G>A (p.Gly566Ser) c.273G>A c.1150G>A (p.Gly384Ser) c.1111G>A (p.Gly371Ser) c.1414G>A (p.Gly472Ser) c.1261G>A (p.Gly421Ser) | |
| 8 | g.143728369C>A | CA463519617 | FAM83H | c.1092G>T (p.Gly364=) c.1695G>T (p.Gly565=) c.272G>T c.1149G>T (p.Gly383=) c.1110G>T (p.Gly370=) c.1413G>T (p.Gly471=) c.1260G>T (p.Gly420=) | |
| 8 | g.143728369C= | CA1825940725 | FAM83H | c.1092G= (p.Gly364=) c.1695G= (p.Gly565=) c.272G= c.1149G= (p.Gly383=) c.1110G= (p.Gly370=) c.1413G= (p.Gly471=) c.1260G= (p.Gly420=) | |
| 8 | g.143728369C>G | CA463519615 | FAM83H | c.1092G>C (p.Gly364=) c.1695G>C (p.Gly565=) c.272G>C c.1149G>C (p.Gly383=) c.1110G>C (p.Gly370=) c.1413G>C (p.Gly471=) c.1260G>C (p.Gly420=) | |
| 8 | g.143728369C>T | CA463519616 | FAM83H | c.1092G>A (p.Gly364=) c.1695G>A (p.Gly565=) c.272G>A c.1149G>A (p.Gly383=) c.1110G>A (p.Gly370=) c.1413G>A (p.Gly471=) c.1260G>A (p.Gly420=) | gnomAD v4 |
| 8 | g.143728370C>A | CA372468616 | FAM83H | c.1091G>T (p.Gly364Val) c.1694G>T (p.Gly565Val) c.271G>T c.1148G>T (p.Gly383Val) c.1109G>T (p.Gly370Val) c.1412G>T (p.Gly471Val) c.1259G>T (p.Gly420Val) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.143728370C= | CA1825940726 | FAM83H | c.1091G= (p.Gly364=) c.1694G= (p.Gly565=) c.271G= c.1148G= (p.Gly383=) c.1109G= (p.Gly370=) c.1412G= (p.Gly471=) c.1259G= (p.Gly420=) | |
| 8 | g.143728370C>G | CA372468617 | FAM83H | c.1091G>C (p.Gly364Ala) c.1694G>C (p.Gly565Ala) c.271G>C c.1148G>C (p.Gly383Ala) c.1109G>C (p.Gly370Ala) c.1412G>C (p.Gly471Ala) c.1259G>C (p.Gly420Ala) | gnomAD v4 |
| 8 | g.143728370C>T | CA372468618 | FAM83H | c.1091G>A (p.Gly364Glu) c.1694G>A (p.Gly565Glu) c.271G>A c.1148G>A (p.Gly383Glu) c.1109G>A (p.Gly370Glu) c.1412G>A (p.Gly471Glu) c.1259G>A (p.Gly420Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.143728376_143728397dup | CA585729880 | FAM83H | c.1070_1091dup (p.Leu367AlafsTer?) c.1673_1694dup (p.Leu568AlafsTer?) c.250_271dup c.1127_1148dup (p.Leu386AlafsTer?) c.1088_1109dup (p.Leu373AlafsTer?) c.1391_1412dup (p.Leu474AlafsTer?) c.1238_1259dup (p.Leu423AlafsTer?) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.143728371C>A | CA372468620 | FAM83H | c.1090G>T (p.Gly364Trp) c.1693G>T (p.Gly565Trp) c.270G>T c.1147G>T (p.Gly383Trp) c.1108G>T (p.Gly370Trp) c.1411G>T (p.Gly471Trp) c.1258G>T (p.Gly420Trp) | gnomAD v4 |
| 8 | g.143728371C= | CA1825940727 | FAM83H | c.1090G= (p.Gly364=) c.1693G= (p.Gly565=) c.270G= c.1147G= (p.Gly383=) c.1108G= (p.Gly370=) c.1411G= (p.Gly471=) c.1258G= (p.Gly420=) | |
| 8 | g.143728371C>G | CA372468622 | FAM83H | c.1090G>C (p.Gly364Arg) c.1693G>C (p.Gly565Arg) c.270G>C c.1147G>C (p.Gly383Arg) c.1108G>C (p.Gly370Arg) c.1411G>C (p.Gly471Arg) c.1258G>C (p.Gly420Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.143728371C>T | CA372468623 | FAM83H | c.1090G>A (p.Gly364Arg) c.1693G>A (p.Gly565Arg) c.270G>A c.1147G>A (p.Gly383Arg) c.1108G>A (p.Gly370Arg) c.1411G>A (p.Gly471Arg) c.1258G>A (p.Gly420Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728372C>A | CA463519620 | FAM83H | c.1089G>T (p.Pro363=) c.1692G>T (p.Pro564=) c.269G>T c.1146G>T (p.Pro382=) c.1107G>T (p.Pro369=) c.1410G>T (p.Pro470=) c.1257G>T (p.Pro419=) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.143728372C= | CA1825940728 | FAM83H | c.1089G= (p.Pro363=) c.1692G= (p.Pro564=) c.269G= c.1146G= (p.Pro382=) c.1107G= (p.Pro369=) c.1410G= (p.Pro470=) c.1257G= (p.Pro419=) | |
| 8 | g.143728372C>G | CA463519619 | FAM83H | c.1089G>C (p.Pro363=) c.1692G>C (p.Pro564=) c.269G>C c.1146G>C (p.Pro382=) c.1107G>C (p.Pro369=) c.1410G>C (p.Pro470=) c.1257G>C (p.Pro419=) | gnomAD v4 |
| 8 | g.143728372C>T | CA463519618 | FAM83H | c.1089G>A (p.Pro363=) c.1692G>A (p.Pro564=) c.269G>A c.1146G>A (p.Pro382=) c.1107G>A (p.Pro369=) c.1410G>A (p.Pro470=) c.1257G>A (p.Pro419=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728373G>A | CA4917522 | FAM83H | c.1088C>T (p.Pro363Leu) c.1691C>T (p.Pro564Leu) c.268C>T c.1145C>T (p.Pro382Leu) c.1106C>T (p.Pro369Leu) c.1409C>T (p.Pro470Leu) c.1256C>T (p.Pro419Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728373G>C | CA372468627 | FAM83H | c.1088C>G (p.Pro363Arg) c.1691C>G (p.Pro564Arg) c.268C>G c.1145C>G (p.Pro382Arg) c.1106C>G (p.Pro369Arg) c.1409C>G (p.Pro470Arg) c.1256C>G (p.Pro419Arg) | gnomAD v4 |
| 8 | g.143728373G= | CA1825940729 | FAM83H | c.1088C= (p.Pro363=) c.1691C= (p.Pro564=) c.268C= c.1145C= (p.Pro382=) c.1106C= (p.Pro369=) c.1409C= (p.Pro470=) c.1256C= (p.Pro419=) | |
| 8 | g.143728373G>T | CA372468625 | FAM83H | c.1088C>A (p.Pro363Gln) c.1691C>A (p.Pro564Gln) c.268C>A c.1145C>A (p.Pro382Gln) c.1106C>A (p.Pro369Gln) c.1409C>A (p.Pro470Gln) c.1256C>A (p.Pro419Gln) | |
| 8 | g.143728374G>A | CA4917523 | FAM83H | c.1087C>T (p.Pro363Ser) c.1690C>T (p.Pro564Ser) c.267C>T c.1144C>T (p.Pro382Ser) c.1105C>T (p.Pro369Ser) c.1408C>T (p.Pro470Ser) c.1255C>T (p.Pro419Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.143728374G>C | CA372468629 | FAM83H | c.1087C>G (p.Pro363Ala) c.1690C>G (p.Pro564Ala) c.267C>G c.1144C>G (p.Pro382Ala) c.1105C>G (p.Pro369Ala) c.1408C>G (p.Pro470Ala) c.1255C>G (p.Pro419Ala) | |
| 8 | g.143728374G= | CA1825940730 | FAM83H | c.1087C= (p.Pro363=) c.1690C= (p.Pro564=) c.267C= c.1144C= (p.Pro382=) c.1105C= (p.Pro369=) c.1408C= (p.Pro470=) c.1255C= (p.Pro419=) | |
| 8 | g.143728374G>T | CA372468631 | FAM83H | c.1087C>A (p.Pro363Thr) c.1690C>A (p.Pro564Thr) c.267C>A c.1144C>A (p.Pro382Thr) c.1105C>A (p.Pro369Thr) c.1408C>A (p.Pro470Thr) c.1255C>A (p.Pro419Thr) | gnomAD v4 |
| 8 | g.143728375C>A | CA372468632 | FAM83H | c.1086G>T (p.Met362Ile) c.1689G>T (p.Met563Ile) c.266G>T c.1143G>T (p.Met381Ile) c.1104G>T (p.Met368Ile) c.1407G>T (p.Met469Ile) c.1254G>T (p.Met418Ile) | gnomAD v4 |
| 8 | g.143728375C>G | CA372468634 | FAM83H | c.1086G>C (p.Met362Ile) c.1689G>C (p.Met563Ile) c.266G>C c.1143G>C (p.Met381Ile) c.1104G>C (p.Met368Ile) c.1407G>C (p.Met469Ile) c.1254G>C (p.Met418Ile) | |
| 8 | g.143728375C>T | CA372468635 | FAM83H | c.1086G>A (p.Met362Ile) c.1689G>A (p.Met563Ile) c.266G>A c.1143G>A (p.Met381Ile) c.1104G>A (p.Met368Ile) c.1407G>A (p.Met469Ile) c.1254G>A (p.Met418Ile) | |
| 8 | g.143728376A>C | CA372468637 | FAM83H | c.1085T>G (p.Met362Arg) c.1688T>G (p.Met563Arg) c.265T>G c.1142T>G (p.Met381Arg) c.1103T>G (p.Met368Arg) c.1406T>G (p.Met469Arg) c.1253T>G (p.Met418Arg) | |
| 8 | g.143728376A>G | CA372468639 | FAM83H | c.1085T>C (p.Met362Thr) c.1688T>C (p.Met563Thr) c.265T>C c.1142T>C (p.Met381Thr) c.1103T>C (p.Met368Thr) c.1406T>C (p.Met469Thr) c.1253T>C (p.Met418Thr) | gnomAD v4 |
| 8 | g.143728376A>T | CA372468640 | FAM83H | c.1085T>A (p.Met362Lys) c.1688T>A (p.Met563Lys) c.265T>A c.1142T>A (p.Met381Lys) c.1103T>A (p.Met368Lys) c.1406T>A (p.Met469Lys) c.1253T>A (p.Met418Lys) | |
| 8 | g.143728377T>A | CA372468642 | FAM83H | c.1084A>T (p.Met362Leu) c.1687A>T (p.Met563Leu) c.264A>T c.1141A>T (p.Met381Leu) c.1102A>T (p.Met368Leu) c.1405A>T (p.Met469Leu) c.1252A>T (p.Met418Leu) | |
| 8 | g.143728377T>C | CA372468643 | FAM83H | c.1084A>G (p.Met362Val) c.1687A>G (p.Met563Val) c.264A>G c.1141A>G (p.Met381Val) c.1102A>G (p.Met368Val) c.1405A>G (p.Met469Val) c.1252A>G (p.Met418Val) | |
| 8 | g.143728377T>G | CA372468644 | FAM83H | c.1084A>C (p.Met362Leu) c.1687A>C (p.Met563Leu) c.264A>C c.1141A>C (p.Met381Leu) c.1102A>C (p.Met368Leu) c.1405A>C (p.Met469Leu) c.1252A>C (p.Met418Leu) | |
| 8 | g.143728378C>A | CA463519621 | FAM83H | c.1083G>T (p.Arg361=) c.1686G>T (p.Arg562=) c.263G>T c.1140G>T (p.Arg380=) c.1101G>T (p.Arg367=) c.1404G>T (p.Arg468=) c.1251G>T (p.Arg417=) | gnomAD v4 |
| 8 | g.143728378C= | CA1825940731 | FAM83H | c.1083G= (p.Arg361=) c.1686G= (p.Arg562=) c.263G= c.1140G= (p.Arg380=) c.1101G= (p.Arg367=) c.1404G= (p.Arg468=) c.1251G= (p.Arg417=) | |
| 8 | g.143728378C>G | CA463519622 | FAM83H | c.1083G>C (p.Arg361=) c.1686G>C (p.Arg562=) c.263G>C c.1140G>C (p.Arg380=) c.1101G>C (p.Arg367=) c.1404G>C (p.Arg468=) c.1251G>C (p.Arg417=) | |
| 8 | g.143728378C>T | CA463519623 | FAM83H | c.1083G>A (p.Arg361=) c.1686G>A (p.Arg562=) c.263G>A c.1140G>A (p.Arg380=) c.1101G>A (p.Arg367=) c.1404G>A (p.Arg468=) c.1251G>A (p.Arg417=) | dbSNP |
| 8 | g.143728379C>A | CA372468650 | FAM83H | c.1082G>T (p.Arg361Leu) c.1685G>T (p.Arg562Leu) c.262G>T c.1139G>T (p.Arg380Leu) c.1100G>T (p.Arg367Leu) c.1403G>T (p.Arg468Leu) c.1250G>T (p.Arg417Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728379C= | CA1825940732 | FAM83H | c.1082G= (p.Arg361=) c.1685G= (p.Arg562=) c.262G= c.1139G= (p.Arg380=) c.1100G= (p.Arg367=) c.1403G= (p.Arg468=) c.1250G= (p.Arg417=) | |
| 8 | g.143728379C>G | CA372468649 | FAM83H | c.1082G>C (p.Arg361Pro) c.1685G>C (p.Arg562Pro) c.262G>C c.1139G>C (p.Arg380Pro) c.1100G>C (p.Arg367Pro) c.1403G>C (p.Arg468Pro) c.1250G>C (p.Arg417Pro) | |
| 8 | g.143728379C>T | CA372468647 | FAM83H | c.1082G>A (p.Arg361Gln) c.1685G>A (p.Arg562Gln) c.262G>A c.1139G>A (p.Arg380Gln) c.1100G>A (p.Arg367Gln) c.1403G>A (p.Arg468Gln) c.1250G>A (p.Arg417Gln) | dbSNP gnomAD v4 |
| 8 | g.143728380G>A | CA4917524 | FAM83H | c.1081C>T (p.Arg361Trp) c.1684C>T (p.Arg562Trp) c.261C>T c.1138C>T (p.Arg380Trp) c.1099C>T (p.Arg367Trp) c.1402C>T (p.Arg468Trp) c.1249C>T (p.Arg417Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728380G>C | CA372468651 | FAM83H | c.1081C>G (p.Arg361Gly) c.1684C>G (p.Arg562Gly) c.261C>G c.1138C>G (p.Arg380Gly) c.1099C>G (p.Arg367Gly) c.1402C>G (p.Arg468Gly) c.1249C>G (p.Arg417Gly) | |
| 8 | g.143728380G= | CA1825940733 | FAM83H | c.1081C= (p.Arg361=) c.1684C= (p.Arg562=) c.261C= c.1138C= (p.Arg380=) c.1099C= (p.Arg367=) c.1402C= (p.Arg468=) c.1249C= (p.Arg417=) | |
| 8 | g.143728380G>T | CA463519624 | FAM83H | c.1081C>A (p.Arg361=) c.1684C>A (p.Arg562=) c.261C>A c.1138C>A (p.Arg380=) c.1099C>A (p.Arg367=) c.1402C>A (p.Arg468=) c.1249C>A (p.Arg417=) | |
| 8 | g.143728381C>A | CA463519625 | FAM83H | c.1080G>T (p.Pro360=) c.1683G>T (p.Pro561=) c.260G>T c.1137G>T (p.Pro379=) c.1098G>T (p.Pro366=) c.1401G>T (p.Pro467=) c.1248G>T (p.Pro416=) | |
| 8 | g.143728381C= | CA1825940734 | FAM83H | c.1080G= (p.Pro360=) c.1683G= (p.Pro561=) c.260G= c.1137G= (p.Pro379=) c.1098G= (p.Pro366=) c.1401G= (p.Pro467=) c.1248G= (p.Pro416=) | |
| 8 | g.143728381C>G | CA463519626 | FAM83H | c.1080G>C (p.Pro360=) c.1683G>C (p.Pro561=) c.260G>C c.1137G>C (p.Pro379=) c.1098G>C (p.Pro366=) c.1401G>C (p.Pro467=) c.1248G>C (p.Pro416=) | |
| 8 | g.143728381C>T | CA463519627 | FAM83H | c.1080G>A (p.Pro360=) c.1683G>A (p.Pro561=) c.260G>A c.1137G>A (p.Pro379=) c.1098G>A (p.Pro366=) c.1401G>A (p.Pro467=) c.1248G>A (p.Pro416=) | dbSNP gnomAD v4 |
| 8 | g.143728387_143728399del | CA2605497408 | FAM83H | c.1068_1080del (p.Glu357GlyfsTer?) c.1671_1683del (p.Glu558GlyfsTer?) c.248_260del c.1125_1137del (p.Glu376GlyfsTer?) c.1086_1098del (p.Glu363GlyfsTer?) c.1389_1401del (p.Glu464GlyfsTer?) c.1236_1248del (p.Glu413GlyfsTer?) | gnomAD v3 gnomAD v4 |
| 8 | g.143728382G>A | CA4917526 | FAM83H | c.1079C>T (p.Pro360Leu) c.1682C>T (p.Pro561Leu) c.259C>T c.1136C>T (p.Pro379Leu) c.1097C>T (p.Pro366Leu) c.1400C>T (p.Pro467Leu) c.1247C>T (p.Pro416Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728382G>C | CA372468653 | FAM83H | c.1079C>G (p.Pro360Arg) c.1682C>G (p.Pro561Arg) c.259C>G c.1136C>G (p.Pro379Arg) c.1097C>G (p.Pro366Arg) c.1400C>G (p.Pro467Arg) c.1247C>G (p.Pro416Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.143728382G= | CA1825940735 | FAM83H | c.1079C= (p.Pro360=) c.1682C= (p.Pro561=) c.259C= c.1136C= (p.Pro379=) c.1097C= (p.Pro366=) c.1400C= (p.Pro467=) c.1247C= (p.Pro416=) | |
| 8 | g.143728382G>T | CA4917525 | FAM83H | c.1079C>A (p.Pro360Gln) c.1682C>A (p.Pro561Gln) c.259C>A c.1136C>A (p.Pro379Gln) c.1097C>A (p.Pro366Gln) c.1400C>A (p.Pro467Gln) c.1247C>A (p.Pro416Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.143728383G>A | CA372468656 | FAM83H | c.1078C>T (p.Pro360Ser) c.1681C>T (p.Pro561Ser) c.258C>T c.1135C>T (p.Pro379Ser) c.1096C>T (p.Pro366Ser) c.1399C>T (p.Pro467Ser) c.1246C>T (p.Pro416Ser) | gnomAD v4 |
| 8 | g.143728383G>C | CA372468657 | FAM83H | c.1078C>G (p.Pro360Ala) c.1681C>G (p.Pro561Ala) c.258C>G c.1135C>G (p.Pro379Ala) c.1096C>G (p.Pro366Ala) c.1399C>G (p.Pro467Ala) c.1246C>G (p.Pro416Ala) | |
| 8 | g.143728383G>T | CA372468658 | FAM83H | c.1078C>A (p.Pro360Thr) c.1681C>A (p.Pro561Thr) c.258C>A c.1135C>A (p.Pro379Thr) c.1096C>A (p.Pro366Thr) c.1399C>A (p.Pro467Thr) c.1246C>A (p.Pro416Thr) | |
| 8 | g.143728384C>A | CA463519628 | FAM83H | c.1077G>T (p.Pro359=) c.1680G>T (p.Pro560=) c.257G>T c.1134G>T (p.Pro378=) c.1095G>T (p.Pro365=) c.1398G>T (p.Pro466=) c.1245G>T (p.Pro415=) | gnomAD v4 |
| 8 | g.143728384C= | CA1825940736 | FAM83H | c.1077G= (p.Pro359=) c.1680G= (p.Pro560=) c.257G= c.1134G= (p.Pro378=) c.1095G= (p.Pro365=) c.1398G= (p.Pro466=) c.1245G= (p.Pro415=) | |
| 8 | g.143728384C>G | CA463519629 | FAM83H | c.1077G>C (p.Pro359=) c.1680G>C (p.Pro560=) c.257G>C c.1134G>C (p.Pro378=) c.1095G>C (p.Pro365=) c.1398G>C (p.Pro466=) c.1245G>C (p.Pro415=) | |
| 8 | g.143728384C>T | CA4917527 | FAM83H | c.1077G>A (p.Pro359=) c.1680G>A (p.Pro560=) c.257G>A c.1134G>A (p.Pro378=) c.1095G>A (p.Pro365=) c.1398G>A (p.Pro466=) c.1245G>A (p.Pro415=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.143728385G>A | CA372468662 | FAM83H | c.1076C>T (p.Pro359Leu) c.1679C>T (p.Pro560Leu) c.256C>T c.1133C>T (p.Pro378Leu) c.1094C>T (p.Pro365Leu) c.1397C>T (p.Pro466Leu) c.1244C>T (p.Pro415Leu) | dbSNP gnomAD v4 |
| 8 | g.143728385G>C | CA372468663 | FAM83H | c.1076C>G (p.Pro359Arg) c.1679C>G (p.Pro560Arg) c.256C>G c.1133C>G (p.Pro378Arg) c.1094C>G (p.Pro365Arg) c.1397C>G (p.Pro466Arg) c.1244C>G (p.Pro415Arg) | |
| 8 | g.143728385G>T | CA372468664 | FAM83H | c.1076C>A (p.Pro359Gln) c.1679C>A (p.Pro560Gln) c.256C>A c.1133C>A (p.Pro378Gln) c.1094C>A (p.Pro365Gln) c.1397C>A (p.Pro466Gln) c.1244C>A (p.Pro415Gln) | gnomAD v4 |
| 8 | g.143728386G>A | CA372468666 | FAM83H | c.1075C>T (p.Pro359Ser) c.1678C>T (p.Pro560Ser) c.255C>T c.1132C>T (p.Pro378Ser) c.1093C>T (p.Pro365Ser) c.1396C>T (p.Pro466Ser) c.1243C>T (p.Pro415Ser) | gnomAD v4 |
| 8 | g.143728386G>C | CA372468669 | FAM83H | c.1075C>G (p.Pro359Ala) c.1678C>G (p.Pro560Ala) c.255C>G c.1132C>G (p.Pro378Ala) c.1093C>G (p.Pro365Ala) c.1396C>G (p.Pro466Ala) c.1243C>G (p.Pro415Ala) | gnomAD v4 |
| 8 | g.143728386G= | CA1825940737 | FAM83H | c.1075C= (p.Pro359=) c.1678C= (p.Pro560=) c.255C= c.1132C= (p.Pro378=) c.1093C= (p.Pro365=) c.1396C= (p.Pro466=) c.1243C= (p.Pro415=) | |
| 8 | g.143728386G>T | CA372468668 | FAM83H | c.1075C>A (p.Pro359Thr) c.1678C>A (p.Pro560Thr) c.255C>A c.1132C>A (p.Pro378Thr) c.1093C>A (p.Pro365Thr) c.1396C>A (p.Pro466Thr) c.1243C>A (p.Pro415Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.143728387C>A | CA372468670 | FAM83H | c.1074G>T (p.Glu358Asp) c.1677G>T (p.Glu559Asp) c.254G>T c.1131G>T (p.Glu377Asp) c.1092G>T (p.Glu364Asp) c.1395G>T (p.Glu465Asp) c.1242G>T (p.Glu414Asp) | gnomAD v4 |
| 8 | g.143728387C>G | CA372468671 | FAM83H | c.1074G>C (p.Glu358Asp) c.1677G>C (p.Glu559Asp) c.254G>C c.1131G>C (p.Glu377Asp) c.1092G>C (p.Glu364Asp) c.1395G>C (p.Glu465Asp) c.1242G>C (p.Glu414Asp) | |
| 8 | g.143728387C>T | CA463519630 | FAM83H | c.1074G>A (p.Glu358=) c.1677G>A (p.Glu559=) c.254G>A c.1131G>A (p.Glu377=) c.1092G>A (p.Glu364=) c.1395G>A (p.Glu465=) c.1242G>A (p.Glu414=) | gnomAD v4 |
| 8 | g.143728388T>A | CA372468673 | FAM83H | c.1073A>T (p.Glu358Val) c.1676A>T (p.Glu559Val) c.253A>T c.1130A>T (p.Glu377Val) c.1091A>T (p.Glu364Val) c.1394A>T (p.Glu465Val) c.1241A>T (p.Glu414Val) | |
| 8 | g.143728388T>C | CA372468674 | FAM83H | c.1073A>G (p.Glu358Gly) c.1676A>G (p.Glu559Gly) c.253A>G c.1130A>G (p.Glu377Gly) c.1091A>G (p.Glu364Gly) c.1394A>G (p.Glu465Gly) c.1241A>G (p.Glu414Gly) | gnomAD v4 |
| 8 | g.143728388T>G | CA372468676 | FAM83H | c.1073A>C (p.Glu358Ala) c.1676A>C (p.Glu559Ala) c.253A>C c.1130A>C (p.Glu377Ala) c.1091A>C (p.Glu364Ala) c.1394A>C (p.Glu465Ala) c.1241A>C (p.Glu414Ala) | |
| 8 | g.143728389C>A | CA372468677 | FAM83H | c.1072G>T (p.Glu358Ter) c.1675G>T (p.Glu559Ter) c.252G>T c.1129G>T (p.Glu377Ter) c.1090G>T (p.Glu364Ter) c.1393G>T (p.Glu465Ter) c.1240G>T (p.Glu414Ter) | |
| 8 | g.143728389C= | CA1825940738 | FAM83H | c.1072G= (p.Glu358=) c.1675G= (p.Glu559=) c.252G= c.1129G= (p.Glu377=) c.1090G= (p.Glu364=) c.1393G= (p.Glu465=) c.1240G= (p.Glu414=) | |
| 8 | g.143728389C>G | CA372468678 | FAM83H | c.1072G>C (p.Glu358Gln) c.1675G>C (p.Glu559Gln) c.252G>C c.1129G>C (p.Glu377Gln) c.1090G>C (p.Glu364Gln) c.1393G>C (p.Glu465Gln) c.1240G>C (p.Glu414Gln) | |
| 8 | g.143728389C>T | CA372468679 | FAM83H | c.1072G>A (p.Glu358Lys) c.1675G>A (p.Glu559Lys) c.252G>A c.1129G>A (p.Glu377Lys) c.1090G>A (p.Glu364Lys) c.1393G>A (p.Glu465Lys) c.1240G>A (p.Glu414Lys) | gnomAD v4 |
| 8 | g.143728390C>A | CA372468681 | FAM83H | c.1071G>T (p.Glu357Asp) c.1674G>T (p.Glu558Asp) c.251G>T c.1128G>T (p.Glu376Asp) c.1089G>T (p.Glu363Asp) c.1392G>T (p.Glu464Asp) c.1239G>T (p.Glu413Asp) | gnomAD v4 |
| 8 | g.143728390C= | CA1825940739 | FAM83H | c.1071G= (p.Glu357=) c.1674G= (p.Glu558=) c.251G= c.1128G= (p.Glu376=) c.1089G= (p.Glu363=) c.1392G= (p.Glu464=) c.1239G= (p.Glu413=) | |
| 8 | g.143728390C>G | CA372468682 | FAM83H | c.1071G>C (p.Glu357Asp) c.1674G>C (p.Glu558Asp) c.251G>C c.1128G>C (p.Glu376Asp) c.1089G>C (p.Glu363Asp) c.1392G>C (p.Glu464Asp) c.1239G>C (p.Glu413Asp) | |
| 8 | g.143728390C>T | CA463519631 | FAM83H | c.1071G>A (p.Glu357=) c.1674G>A (p.Glu558=) c.251G>A c.1128G>A (p.Glu376=) c.1089G>A (p.Glu363=) c.1392G>A (p.Glu464=) c.1239G>A (p.Glu413=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.143728390_143728401dup | CA585729881 | FAM83H | c.1060_1071dup (p.Glu357_Glu358insPheArgArgGlu) c.1663_1674dup (p.Glu558_Glu559insPheArgArgGlu) c.240_251dup c.1117_1128dup (p.Glu376_Glu377insPheArgArgGlu) c.1078_1089dup (p.Glu363_Glu364insPheArgArgGlu) c.1381_1392dup (p.Glu464_Glu465insPheArgArgGlu) c.1228_1239dup (p.Glu413_Glu414insPheArgArgGlu) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.143728391T>A | CA372468684 | FAM83H | c.1070A>T (p.Glu357Val) c.1673A>T (p.Glu558Val) c.250A>T c.1127A>T (p.Glu376Val) c.1088A>T (p.Glu363Val) c.1391A>T (p.Glu464Val) c.1238A>T (p.Glu413Val) | |
| 8 | g.143728391T>C | CA372468685 | FAM83H | c.1070A>G (p.Glu357Gly) c.1673A>G (p.Glu558Gly) c.250A>G c.1127A>G (p.Glu376Gly) c.1088A>G (p.Glu363Gly) c.1391A>G (p.Glu464Gly) c.1238A>G (p.Glu413Gly) | gnomAD v4 |
| 8 | g.143728391T>G | CA372468687 | FAM83H | c.1070A>C (p.Glu357Ala) c.1673A>C (p.Glu558Ala) c.250A>C c.1127A>C (p.Glu376Ala) c.1088A>C (p.Glu363Ala) c.1391A>C (p.Glu464Ala) c.1238A>C (p.Glu413Ala) | |
| 8 | g.143728392C>A | CA372468690 | FAM83H | c.1069G>T (p.Glu357Ter) c.1672G>T (p.Glu558Ter) c.249G>T c.1126G>T (p.Glu376Ter) c.1087G>T (p.Glu363Ter) c.1390G>T (p.Glu464Ter) c.1237G>T (p.Glu413Ter) | gnomAD v4 |
| 8 | g.143728392C= | CA1825940740 | FAM83H | c.1069G= (p.Glu357=) c.1672G= (p.Glu558=) c.249G= c.1126G= (p.Glu376=) c.1087G= (p.Glu363=) c.1390G= (p.Glu464=) c.1237G= (p.Glu413=) | |
| 8 | g.143728392C>G | CA372468688 | FAM83H | c.1069G>C (p.Glu357Gln) c.1672G>C (p.Glu558Gln) c.249G>C c.1126G>C (p.Glu376Gln) c.1087G>C (p.Glu363Gln) c.1390G>C (p.Glu464Gln) c.1237G>C (p.Glu413Gln) | dbSNP |
| 8 | g.143728392C>T | CA4917528 | FAM83H | c.1069G>A (p.Glu357Lys) c.1672G>A (p.Glu558Lys) c.249G>A c.1126G>A (p.Glu376Lys) c.1087G>A (p.Glu363Lys) c.1390G>A (p.Glu464Lys) c.1237G>A (p.Glu413Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728393_143728397dup | CA2688981005 | FAM83H | c.1065_1069dup (p.Glu357AlafsTer?) c.1668_1672dup (p.Glu558AlafsTer?) c.245_249dup c.1122_1126dup (p.Glu376AlafsTer?) c.1083_1087dup (p.Glu363AlafsTer?) c.1386_1390dup (p.Glu464AlafsTer?) c.1233_1237dup (p.Glu413AlafsTer?) | gnomAD v4 |
| 8 | g.143728393C>A | CA463519632 | FAM83H | c.1068G>T (p.Arg356=) c.1671G>T (p.Arg557=) c.248G>T c.1125G>T (p.Arg375=) c.1086G>T (p.Arg362=) c.1389G>T (p.Arg463=) c.1236G>T (p.Arg412=) | gnomAD v4 |
| 8 | g.143728393C>G | CA463519633 | FAM83H | c.1068G>C (p.Arg356=) c.1671G>C (p.Arg557=) c.248G>C c.1125G>C (p.Arg375=) c.1086G>C (p.Arg362=) c.1389G>C (p.Arg463=) c.1236G>C (p.Arg412=) | gnomAD v4 |
| 8 | g.143728393C>T | CA463519634 | FAM83H | c.1068G>A (p.Arg356=) c.1671G>A (p.Arg557=) c.248G>A c.1125G>A (p.Arg375=) c.1086G>A (p.Arg362=) c.1389G>A (p.Arg463=) c.1236G>A (p.Arg412=) | gnomAD v4 |
| 8 | g.143728394C>A | CA372468691 | FAM83H | c.1067G>T (p.Arg356Leu) c.1670G>T (p.Arg557Leu) c.247G>T c.1124G>T (p.Arg375Leu) c.1085G>T (p.Arg362Leu) c.1388G>T (p.Arg463Leu) c.1235G>T (p.Arg412Leu) | gnomAD v4 |
| 8 | g.143728394C= | CA1825940741 | FAM83H | c.1067G= (p.Arg356=) c.1670G= (p.Arg557=) c.247G= c.1124G= (p.Arg375=) c.1085G= (p.Arg362=) c.1388G= (p.Arg463=) c.1235G= (p.Arg412=) | |
| 8 | g.143728394C>G | CA372468692 | FAM83H | c.1067G>C (p.Arg356Pro) c.1670G>C (p.Arg557Pro) c.247G>C c.1124G>C (p.Arg375Pro) c.1085G>C (p.Arg362Pro) c.1388G>C (p.Arg463Pro) c.1235G>C (p.Arg412Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.143728394C>T | CA372468694 | FAM83H | c.1067G>A (p.Arg356Gln) c.1670G>A (p.Arg557Gln) c.247G>A c.1124G>A (p.Arg375Gln) c.1085G>A (p.Arg362Gln) c.1388G>A (p.Arg463Gln) c.1235G>A (p.Arg412Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728394_143728400delinsCGGCGGA | CA1825940742 | FAM83H | c.1061_1067delinsTCCGCCG (p.Phe354=) c.1664_1670delinsTCCGCCG (p.Phe555=) c.241_247delinsTCCGCCG c.1118_1124delinsTCCGCCG (p.Phe373=) c.1079_1085delinsTCCGCCG (p.Phe360=) c.1382_1388delinsTCCGCCG (p.Phe461=) c.1229_1235delinsTCCGCCG (p.Phe410=) | |
| 8 | g.143728395_143728404del | CA2688981014 | FAM83H | c.1058_1067del (p.Ala353GlyfsTer?) c.1661_1670del (p.Ala554GlyfsTer?) c.238_247del c.1115_1124del (p.Ala372GlyfsTer?) c.1076_1085del (p.Ala359GlyfsTer?) c.1379_1388del (p.Ala460GlyfsTer?) c.1226_1235del (p.Ala409GlyfsTer?) | gnomAD v4 |
| 8 | g.143728395G>A | CA372468695 | FAM83H | c.1066C>T (p.Arg356Trp) c.1669C>T (p.Arg557Trp) c.246C>T c.1123C>T (p.Arg375Trp) c.1084C>T (p.Arg362Trp) c.1387C>T (p.Arg463Trp) c.1234C>T (p.Arg412Trp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728395G>C | CA372468696 | FAM83H | c.1066C>G (p.Arg356Gly) c.1669C>G (p.Arg557Gly) c.246C>G c.1123C>G (p.Arg375Gly) c.1084C>G (p.Arg362Gly) c.1387C>G (p.Arg463Gly) c.1234C>G (p.Arg412Gly) | |
| 8 | g.143728395G= | CA1825940744 | FAM83H | c.1066C= (p.Arg356=) c.1669C= (p.Arg557=) c.246C= c.1123C= (p.Arg375=) c.1084C= (p.Arg362=) c.1387C= (p.Arg463=) c.1234C= (p.Arg412=) | |
| 8 | g.143728395G>T | CA463519635 | FAM83H | c.1066C>A (p.Arg356=) c.1669C>A (p.Arg557=) c.246C>A c.1123C>A (p.Arg375=) c.1084C>A (p.Arg362=) c.1387C>A (p.Arg463=) c.1234C>A (p.Arg412=) | gnomAD v4 |
| 8 | g.143728395_143728400del | CA1825940743 | FAM83H | c.1061_1066del (p.Phe354_Arg356delinsTrp) c.1664_1669del (p.Phe555_Arg557delinsTrp) c.241_246del c.1118_1123del (p.Phe373_Arg375delinsTrp) c.1079_1084del (p.Phe360_Arg362delinsTrp) c.1382_1387del (p.Phe461_Arg463delinsTrp) c.1229_1234del (p.Phe410_Arg412delinsTrp) | dbSNP |
| 8 | g.143728396G>A | CA463519636 | FAM83H | c.1065C>T (p.Arg355=) c.1668C>T (p.Arg556=) c.245C>T c.1122C>T (p.Arg374=) c.1083C>T (p.Arg361=) c.1386C>T (p.Arg462=) c.1233C>T (p.Arg411=) | |
| 8 | g.143728396G>C | CA463519637 | FAM83H | c.1065C>G (p.Arg355=) c.1668C>G (p.Arg556=) c.245C>G c.1122C>G (p.Arg374=) c.1083C>G (p.Arg361=) c.1386C>G (p.Arg462=) c.1233C>G (p.Arg411=) | |
| 8 | g.143728396G>T | CA463519638 | FAM83H | c.1065C>A (p.Arg355=) c.1668C>A (p.Arg556=) c.245C>A c.1122C>A (p.Arg374=) c.1083C>A (p.Arg361=) c.1386C>A (p.Arg462=) c.1233C>A (p.Arg411=) | |
| 8 | g.143728397C>A | CA372468697 | FAM83H | c.1064G>T (p.Arg355Leu) c.1667G>T (p.Arg556Leu) c.244G>T c.1121G>T (p.Arg374Leu) c.1082G>T (p.Arg361Leu) c.1385G>T (p.Arg462Leu) c.1232G>T (p.Arg411Leu) | gnomAD v4 |
| 8 | g.143728397C= | CA1825940745 | FAM83H | c.1064G= (p.Arg355=) c.1667G= (p.Arg556=) c.244G= c.1121G= (p.Arg374=) c.1082G= (p.Arg361=) c.1385G= (p.Arg462=) c.1232G= (p.Arg411=) | |
| 8 | g.143728397C>G | CA372468699 | FAM83H | c.1064G>C (p.Arg355Pro) c.1667G>C (p.Arg556Pro) c.244G>C c.1121G>C (p.Arg374Pro) c.1082G>C (p.Arg361Pro) c.1385G>C (p.Arg462Pro) c.1232G>C (p.Arg411Pro) | dbSNP gnomAD v4 |
| 8 | g.143728397C>T | CA372468700 | FAM83H | c.1064G>A (p.Arg355His) c.1667G>A (p.Arg556His) c.244G>A c.1121G>A (p.Arg374His) c.1082G>A (p.Arg361His) c.1385G>A (p.Arg462His) c.1232G>A (p.Arg411His) | gnomAD v4 |
| 8 | g.143728398G>A | CA372468702 | FAM83H | c.1063C>T (p.Arg355Cys) c.1666C>T (p.Arg556Cys) c.243C>T c.1120C>T (p.Arg374Cys) c.1081C>T (p.Arg361Cys) c.1384C>T (p.Arg462Cys) c.1231C>T (p.Arg411Cys) | dbSNP gnomAD v4 |
| 8 | g.143728398G>C | CA372468704 | FAM83H | c.1063C>G (p.Arg355Gly) c.1666C>G (p.Arg556Gly) c.243C>G c.1120C>G (p.Arg374Gly) c.1081C>G (p.Arg361Gly) c.1384C>G (p.Arg462Gly) c.1231C>G (p.Arg411Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.143728398G= | CA1825940746 | FAM83H | c.1063C= (p.Arg355=) c.1666C= (p.Arg556=) c.243C= c.1120C= (p.Arg374=) c.1081C= (p.Arg361=) c.1384C= (p.Arg462=) c.1231C= (p.Arg411=) | |
| 8 | g.143728398G>T | CA372468705 | FAM83H | c.1063C>A (p.Arg355Ser) c.1666C>A (p.Arg556Ser) c.243C>A c.1120C>A (p.Arg374Ser) c.1081C>A (p.Arg361Ser) c.1384C>A (p.Arg462Ser) c.1231C>A (p.Arg411Ser) | gnomAD v4 |
| 8 | g.143728399G>A | CA463519639 | FAM83H | c.1062C>T (p.Phe354=) c.1665C>T (p.Phe555=) c.242C>T c.1119C>T (p.Phe373=) c.1080C>T (p.Phe360=) c.1383C>T (p.Phe461=) c.1230C>T (p.Phe410=) | gnomAD v4 |
| 8 | g.143728399G>C | CA372468707 | FAM83H | c.1062C>G (p.Phe354Leu) c.1665C>G (p.Phe555Leu) c.242C>G c.1119C>G (p.Phe373Leu) c.1080C>G (p.Phe360Leu) c.1383C>G (p.Phe461Leu) c.1230C>G (p.Phe410Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728399G= | CA1825940747 | FAM83H | c.1062C= (p.Phe354=) c.1665C= (p.Phe555=) c.242C= c.1119C= (p.Phe373=) c.1080C= (p.Phe360=) c.1383C= (p.Phe461=) c.1230C= (p.Phe410=) | |
| 8 | g.143728399G>T | CA372468708 | FAM83H | c.1062C>A (p.Phe354Leu) c.1665C>A (p.Phe555Leu) c.242C>A c.1119C>A (p.Phe373Leu) c.1080C>A (p.Phe360Leu) c.1383C>A (p.Phe461Leu) c.1230C>A (p.Phe410Leu) | |
| 8 | g.143728400A>C | CA372468710 | FAM83H | c.1061T>G (p.Phe354Cys) c.1664T>G (p.Phe555Cys) c.241T>G c.1118T>G (p.Phe373Cys) c.1079T>G (p.Phe360Cys) c.1382T>G (p.Phe461Cys) c.1229T>G (p.Phe410Cys) | |
| 8 | g.143728400A>G | CA372468711 | FAM83H | c.1061T>C (p.Phe354Ser) c.1664T>C (p.Phe555Ser) c.241T>C c.1118T>C (p.Phe373Ser) c.1079T>C (p.Phe360Ser) c.1382T>C (p.Phe461Ser) c.1229T>C (p.Phe410Ser) | |
| 8 | g.143728400A>T | CA372468709 | FAM83H | c.1061T>A (p.Phe354Tyr) c.1664T>A (p.Phe555Tyr) c.241T>A c.1118T>A (p.Phe373Tyr) c.1079T>A (p.Phe360Tyr) c.1382T>A (p.Phe461Tyr) c.1229T>A (p.Phe410Tyr) | gnomAD v4 |
| 8 | g.143728401del | CA2688981027 | FAM83H | c.1061del (p.Phe354SerfsTer?) c.1664del (p.Phe555SerfsTer?) c.241del c.1118del (p.Phe373SerfsTer?) c.1079del (p.Phe360SerfsTer?) c.1382del (p.Phe461SerfsTer?) c.1229del (p.Phe410SerfsTer?) | gnomAD v4 |
| 8 | g.143728401A= | CA1825940748 | FAM83H | c.1060T= (p.Phe354=) c.1663T= (p.Phe555=) c.240T= c.1117T= (p.Phe373=) c.1078T= (p.Phe360=) c.1381T= (p.Phe461=) c.1228T= (p.Phe410=) | |
| 8 | g.143728401A>C | CA372468713 | FAM83H | c.1060T>G (p.Phe354Val) c.1663T>G (p.Phe555Val) c.240T>G c.1117T>G (p.Phe373Val) c.1078T>G (p.Phe360Val) c.1381T>G (p.Phe461Val) c.1228T>G (p.Phe410Val) | |
| 8 | g.143728401A>G | CA372468714 | FAM83H | c.1060T>C (p.Phe354Leu) c.1663T>C (p.Phe555Leu) c.240T>C c.1117T>C (p.Phe373Leu) c.1078T>C (p.Phe360Leu) c.1381T>C (p.Phe461Leu) c.1228T>C (p.Phe410Leu) | dbSNP |
| 8 | g.143728401A>T | CA372468716 | FAM83H | c.1060T>A (p.Phe354Ile) c.1663T>A (p.Phe555Ile) c.240T>A c.1117T>A (p.Phe373Ile) c.1078T>A (p.Phe360Ile) c.1381T>A (p.Phe461Ile) c.1228T>A (p.Phe410Ile) | dbSNP |
| 8 | g.143728402G>A | CA4917529 | FAM83H | c.1059C>T (p.Ala353=) c.1662C>T (p.Ala554=) c.239C>T c.1116C>T (p.Ala372=) c.1077C>T (p.Ala359=) c.1380C>T (p.Ala460=) c.1227C>T (p.Ala409=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728402G>C | CA463519641 | FAM83H | c.1059C>G (p.Ala353=) c.1662C>G (p.Ala554=) c.239C>G c.1116C>G (p.Ala372=) c.1077C>G (p.Ala359=) c.1380C>G (p.Ala460=) c.1227C>G (p.Ala409=) | |
| 8 | g.143728402G= | CA1825940749 | FAM83H | c.1059C= (p.Ala353=) c.1662C= (p.Ala554=) c.239C= c.1116C= (p.Ala372=) c.1077C= (p.Ala359=) c.1380C= (p.Ala460=) c.1227C= (p.Ala409=) | |
| 8 | g.143728402G>T | CA463519640 | FAM83H | c.1059C>A (p.Ala353=) c.1662C>A (p.Ala554=) c.239C>A c.1116C>A (p.Ala372=) c.1077C>A (p.Ala359=) c.1380C>A (p.Ala460=) c.1227C>A (p.Ala409=) | gnomAD v4 |
| 8 | g.143728403del | CA2688981031 | FAM83H | c.1059del (p.Phe354SerfsTer?) c.1662del (p.Phe555SerfsTer?) c.239del c.1116del (p.Phe373SerfsTer?) c.1077del (p.Phe360SerfsTer?) c.1380del (p.Phe461SerfsTer?) c.1227del (p.Phe410SerfsTer?) | gnomAD v4 |
| 8 | g.143728403G>A | CA372468717 | FAM83H | c.1058C>T (p.Ala353Val) c.1661C>T (p.Ala554Val) c.238C>T c.1115C>T (p.Ala372Val) c.1076C>T (p.Ala359Val) c.1379C>T (p.Ala460Val) c.1226C>T (p.Ala409Val) | gnomAD v4 |
| 8 | g.143728403G>C | CA372468718 | FAM83H | c.1058C>G (p.Ala353Gly) c.1661C>G (p.Ala554Gly) c.238C>G c.1115C>G (p.Ala372Gly) c.1076C>G (p.Ala359Gly) c.1379C>G (p.Ala460Gly) c.1226C>G (p.Ala409Gly) | |
| 8 | g.143728403G>T | CA372468720 | FAM83H | c.1058C>A (p.Ala353Asp) c.1661C>A (p.Ala554Asp) c.238C>A c.1115C>A (p.Ala372Asp) c.1076C>A (p.Ala359Asp) c.1379C>A (p.Ala460Asp) c.1226C>A (p.Ala409Asp) | |
| 8 | g.143728404C>A | CA372468722 | FAM83H | c.1057G>T (p.Ala353Ser) c.1660G>T (p.Ala554Ser) c.237G>T c.1114G>T (p.Ala372Ser) c.1075G>T (p.Ala359Ser) c.1378G>T (p.Ala460Ser) c.1225G>T (p.Ala409Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.143728404C= | CA1825940750 | FAM83H | c.1057G= (p.Ala353=) c.1660G= (p.Ala554=) c.237G= c.1114G= (p.Ala372=) c.1075G= (p.Ala359=) c.1378G= (p.Ala460=) c.1225G= (p.Ala409=) | |
| 8 | g.143728404C>G | CA372468724 | FAM83H | c.1057G>C (p.Ala353Pro) c.1660G>C (p.Ala554Pro) c.237G>C c.1114G>C (p.Ala372Pro) c.1075G>C (p.Ala359Pro) c.1378G>C (p.Ala460Pro) c.1225G>C (p.Ala409Pro) | dbSNP |
| 8 | g.143728404C>T | CA4917530 | FAM83H | c.1057G>A (p.Ala353Thr) c.1660G>A (p.Ala554Thr) c.237G>A c.1114G>A (p.Ala372Thr) c.1075G>A (p.Ala359Thr) c.1378G>A (p.Ala460Thr) c.1225G>A (p.Ala409Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728405C>A | CA463519643 | FAM83H | c.1056G>T (p.Ser352=) c.1659G>T (p.Ser553=) c.236G>T c.1113G>T (p.Ser371=) c.1074G>T (p.Ser358=) c.1377G>T (p.Ser459=) c.1224G>T (p.Ser408=) | gnomAD v4 |
| 8 | g.143728405C= | CA1825940751 | FAM83H | c.1056G= (p.Ser352=) c.1659G= (p.Ser553=) c.236G= c.1113G= (p.Ser371=) c.1074G= (p.Ser358=) c.1377G= (p.Ser459=) c.1224G= (p.Ser408=) | |
| 8 | g.143728405C>G | CA463519644 | FAM83H | c.1056G>C (p.Ser352=) c.1659G>C (p.Ser553=) c.236G>C c.1113G>C (p.Ser371=) c.1074G>C (p.Ser358=) c.1377G>C (p.Ser459=) c.1224G>C (p.Ser408=) | gnomAD v4 |
| 8 | g.143728405C>T | CA463519642 | FAM83H | c.1056G>A (p.Ser352=) c.1659G>A (p.Ser553=) c.236G>A c.1113G>A (p.Ser371=) c.1074G>A (p.Ser358=) c.1377G>A (p.Ser459=) c.1224G>A (p.Ser408=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.143728406G>A | CA372468726 | FAM83H | c.1055C>T (p.Ser352Leu) c.1658C>T (p.Ser553Leu) c.235C>T c.1112C>T (p.Ser371Leu) c.1073C>T (p.Ser358Leu) c.1376C>T (p.Ser459Leu) c.1223C>T (p.Ser408Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728406G>C | CA372468728 | FAM83H | c.1055C>G (p.Ser352Trp) c.1658C>G (p.Ser553Trp) c.235C>G c.1112C>G (p.Ser371Trp) c.1073C>G (p.Ser358Trp) c.1376C>G (p.Ser459Trp) c.1223C>G (p.Ser408Trp) | |
| 8 | g.143728406G= | CA1825940752 | FAM83H | c.1055C= (p.Ser352=) c.1658C= (p.Ser553=) c.235C= c.1112C= (p.Ser371=) c.1073C= (p.Ser358=) c.1376C= (p.Ser459=) c.1223C= (p.Ser408=) | |
| 8 | g.143728406G>T | CA372468729 | FAM83H | c.1055C>A (p.Ser352Ter) c.1658C>A (p.Ser553Ter) c.235C>A c.1112C>A (p.Ser371Ter) c.1073C>A (p.Ser358Ter) c.1376C>A (p.Ser459Ter) c.1223C>A (p.Ser408Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.143728407A>C | CA372468731 | FAM83H | c.1054T>G (p.Ser352Ala) c.1657T>G (p.Ser553Ala) c.234T>G c.1111T>G (p.Ser371Ala) c.1072T>G (p.Ser358Ala) c.1375T>G (p.Ser459Ala) c.1222T>G (p.Ser408Ala) | |
| 8 | g.143728407A>G | CA372468733 | FAM83H | c.1054T>C (p.Ser352Pro) c.1657T>C (p.Ser553Pro) c.234T>C c.1111T>C (p.Ser371Pro) c.1072T>C (p.Ser358Pro) c.1375T>C (p.Ser459Pro) c.1222T>C (p.Ser408Pro) | |
| 8 | g.143728407A>T | CA372468732 | FAM83H | c.1054T>A (p.Ser352Thr) c.1657T>A (p.Ser553Thr) c.234T>A c.1111T>A (p.Ser371Thr) c.1072T>A (p.Ser358Thr) c.1375T>A (p.Ser459Thr) c.1222T>A (p.Ser408Thr) | |
| 8 | g.143728408C>A | CA463519645 | FAM83H | c.1053G>T (p.Leu351=) c.1656G>T (p.Leu552=) c.233G>T c.1110G>T (p.Leu370=) c.1071G>T (p.Leu357=) c.1374G>T (p.Leu458=) c.1221G>T (p.Leu407=) | gnomAD v4 |
| 8 | g.143728408C>G | CA463519646 | FAM83H | c.1053G>C (p.Leu351=) c.1656G>C (p.Leu552=) c.233G>C c.1110G>C (p.Leu370=) c.1071G>C (p.Leu357=) c.1374G>C (p.Leu458=) c.1221G>C (p.Leu407=) | |
| 8 | g.143728408C>T | CA463519647 | FAM83H | c.1053G>A (p.Leu351=) c.1656G>A (p.Leu552=) c.233G>A c.1110G>A (p.Leu370=) c.1071G>A (p.Leu357=) c.1374G>A (p.Leu458=) c.1221G>A (p.Leu407=) | gnomAD v4 |
| 8 | g.143728409A>C | CA372468734 | FAM83H | c.1052T>G (p.Leu351Arg) c.1655T>G (p.Leu552Arg) c.232T>G c.1109T>G (p.Leu370Arg) c.1070T>G (p.Leu357Arg) c.1373T>G (p.Leu458Arg) c.1220T>G (p.Leu407Arg) | gnomAD v4 |
| 8 | g.143728409A>G | CA372468735 | FAM83H | c.1052T>C (p.Leu351Pro) c.1655T>C (p.Leu552Pro) c.232T>C c.1109T>C (p.Leu370Pro) c.1070T>C (p.Leu357Pro) c.1373T>C (p.Leu458Pro) c.1220T>C (p.Leu407Pro) | |
| 8 | g.143728409A>T | CA372468737 | FAM83H | c.1052T>A (p.Leu351Gln) c.1655T>A (p.Leu552Gln) c.232T>A c.1109T>A (p.Leu370Gln) c.1070T>A (p.Leu357Gln) c.1373T>A (p.Leu458Gln) c.1220T>A (p.Leu407Gln) | |
| 8 | g.143728409_143728418delinsAGGAAGTGGC | CA1825940753 | FAM83H | c.1043_1052delinsGCCACTTCCT (p.Arg348=) c.1646_1655delinsGCCACTTCCT (p.Arg549=) c.223_232delinsGCCACTTCCT c.1100_1109delinsGCCACTTCCT (p.Arg367=) c.1061_1070delinsGCCACTTCCT (p.Arg354=) c.1364_1373delinsGCCACTTCCT (p.Arg455=) c.1211_1220delinsGCCACTTCCT (p.Arg404=) | |
| 8 | g.143728410G>A | CA463519648 | FAM83H | c.1051C>T (p.Leu351=) c.1654C>T (p.Leu552=) c.231C>T c.1108C>T (p.Leu370=) c.1069C>T (p.Leu357=) c.1372C>T (p.Leu458=) c.1219C>T (p.Leu407=) | dbSNP gnomAD v4 |
| 8 | g.143728410G>C | CA372468738 | FAM83H | c.1051C>G (p.Leu351Val) c.1654C>G (p.Leu552Val) c.231C>G c.1108C>G (p.Leu370Val) c.1069C>G (p.Leu357Val) c.1372C>G (p.Leu458Val) c.1219C>G (p.Leu407Val) | gnomAD v4 |
| 8 | g.143728410G= | CA1825940755 | FAM83H | c.1051C= (p.Leu351=) c.1654C= (p.Leu552=) c.231C= c.1108C= (p.Leu370=) c.1069C= (p.Leu357=) c.1372C= (p.Leu458=) c.1219C= (p.Leu407=) | |
| 8 | g.143728410G>T | CA372468740 | FAM83H | c.1051C>A (p.Leu351Met) c.1654C>A (p.Leu552Met) c.231C>A c.1108C>A (p.Leu370Met) c.1069C>A (p.Leu357Met) c.1372C>A (p.Leu458Met) c.1219C>A (p.Leu407Met) | |
| 8 | g.143728412_143728420del | CA1825940754 | FAM83H | c.1043_1051del (p.Arg348_Phe350del) c.1646_1654del (p.Arg549_Phe551del) c.223_231del c.1100_1108del (p.Arg367_Phe369del) c.1061_1069del (p.Arg354_Phe356del) c.1364_1372del (p.Arg455_Phe457del) c.1211_1219del (p.Arg404_Phe406del) | dbSNP |
| 8 | g.143728411G>A | CA463519649 | FAM83H | c.1050C>T (p.Phe350=) c.1653C>T (p.Phe551=) c.230C>T c.1107C>T (p.Phe369=) c.1068C>T (p.Phe356=) c.1371C>T (p.Phe457=) c.1218C>T (p.Phe406=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.143728411G>C | CA372468741 | FAM83H | c.1050C>G (p.Phe350Leu) c.1653C>G (p.Phe551Leu) c.230C>G c.1107C>G (p.Phe369Leu) c.1068C>G (p.Phe356Leu) c.1371C>G (p.Phe457Leu) c.1218C>G (p.Phe406Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.143728411G= | CA1825940756 | FAM83H | c.1050C= (p.Phe350=) c.1653C= (p.Phe551=) c.230C= c.1107C= (p.Phe369=) c.1068C= (p.Phe356=) c.1371C= (p.Phe457=) c.1218C= (p.Phe406=) | |
| 8 | g.143728411G>T | CA372468742 | FAM83H | c.1050C>A (p.Phe350Leu) c.1653C>A (p.Phe551Leu) c.230C>A c.1107C>A (p.Phe369Leu) c.1068C>A (p.Phe356Leu) c.1371C>A (p.Phe457Leu) c.1218C>A (p.Phe406Leu) | gnomAD v4 |
| 8 | g.143728412A>C | CA372468743 | FAM83H | c.1049T>G (p.Phe350Cys) c.1652T>G (p.Phe551Cys) c.229T>G c.1106T>G (p.Phe369Cys) c.1067T>G (p.Phe356Cys) c.1370T>G (p.Phe457Cys) c.1217T>G (p.Phe406Cys) | |
| 8 | g.143728412A>G | CA372468745 | FAM83H | c.1049T>C (p.Phe350Ser) c.1652T>C (p.Phe551Ser) c.229T>C c.1106T>C (p.Phe369Ser) c.1067T>C (p.Phe356Ser) c.1370T>C (p.Phe457Ser) c.1217T>C (p.Phe406Ser) | |
| 8 | g.143728412A>T | CA372468746 | FAM83H | c.1049T>A (p.Phe350Tyr) c.1652T>A (p.Phe551Tyr) c.229T>A c.1106T>A (p.Phe369Tyr) c.1067T>A (p.Phe356Tyr) c.1370T>A (p.Phe457Tyr) c.1217T>A (p.Phe406Tyr) | |
| 8 | g.143728413A= | CA1825940757 | FAM83H | c.1048T= (p.Phe350=) c.1651T= (p.Phe551=) c.228T= c.1105T= (p.Phe369=) c.1066T= (p.Phe356=) c.1369T= (p.Phe457=) c.1216T= (p.Phe406=) | |
| 8 | g.143728413A>C | CA372468747 | FAM83H | c.1048T>G (p.Phe350Val) c.1651T>G (p.Phe551Val) c.228T>G c.1105T>G (p.Phe369Val) c.1066T>G (p.Phe356Val) c.1369T>G (p.Phe457Val) c.1216T>G (p.Phe406Val) | gnomAD v4 |
| 8 | g.143728413A>G | CA372468748 | FAM83H | c.1048T>C (p.Phe350Leu) c.1651T>C (p.Phe551Leu) c.228T>C c.1105T>C (p.Phe369Leu) c.1066T>C (p.Phe356Leu) c.1369T>C (p.Phe457Leu) c.1216T>C (p.Phe406Leu) | |
| 8 | g.143728413A>T | CA4917531 | FAM83H | c.1048T>A (p.Phe350Ile) c.1651T>A (p.Phe551Ile) c.228T>A c.1105T>A (p.Phe369Ile) c.1066T>A (p.Phe356Ile) c.1369T>A (p.Phe457Ile) c.1216T>A (p.Phe406Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.143728414G>A | CA4917532 | FAM83H | c.1047C>T (p.His349=) c.1650C>T (p.His550=) c.227C>T c.1104C>T (p.His368=) c.1065C>T (p.His355=) c.1368C>T (p.His456=) c.1215C>T (p.His405=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728414G>C | CA372468750 | FAM83H | c.1047C>G (p.His349Gln) c.1650C>G (p.His550Gln) c.227C>G c.1104C>G (p.His368Gln) c.1065C>G (p.His355Gln) c.1368C>G (p.His456Gln) c.1215C>G (p.His405Gln) | |
| 8 | g.143728414G= | CA1825940758 | FAM83H | c.1047C= (p.His349=) c.1650C= (p.His550=) c.227C= c.1104C= (p.His368=) c.1065C= (p.His355=) c.1368C= (p.His456=) c.1215C= (p.His405=) | |
| 8 | g.143728414G>T | CA372468752 | FAM83H | c.1047C>A (p.His349Gln) c.1650C>A (p.His550Gln) c.227C>A c.1104C>A (p.His368Gln) c.1065C>A (p.His355Gln) c.1368C>A (p.His456Gln) c.1215C>A (p.His405Gln) | |
| 8 | g.143728415T>A | CA372468753 | FAM83H | c.1046A>T (p.His349Leu) c.1649A>T (p.His550Leu) c.226A>T c.1103A>T (p.His368Leu) c.1064A>T (p.His355Leu) c.1367A>T (p.His456Leu) c.1214A>T (p.His405Leu) | dbSNP gnomAD v4 |
| 8 | g.143728415T>C | CA372468754 | FAM83H | c.1046A>G (p.His349Arg) c.1649A>G (p.His550Arg) c.226A>G c.1103A>G (p.His368Arg) c.1064A>G (p.His355Arg) c.1367A>G (p.His456Arg) c.1214A>G (p.His405Arg) | |
| 8 | g.143728415T>G | CA372468755 | FAM83H | c.1046A>C (p.His349Pro) c.1649A>C (p.His550Pro) c.226A>C c.1103A>C (p.His368Pro) c.1064A>C (p.His355Pro) c.1367A>C (p.His456Pro) c.1214A>C (p.His405Pro) | |
| 8 | g.143728415T= | CA1825940759 | FAM83H | c.1046A= (p.His349=) c.1649A= (p.His550=) c.226A= c.1103A= (p.His368=) c.1064A= (p.His355=) c.1367A= (p.His456=) c.1214A= (p.His405=) | |
| 8 | g.143728416G>A | CA372468757 | FAM83H | c.1045C>T (p.His349Tyr) c.1648C>T (p.His550Tyr) c.225C>T c.1102C>T (p.His368Tyr) c.1063C>T (p.His355Tyr) c.1366C>T (p.His456Tyr) c.1213C>T (p.His405Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728416G>C | CA372468759 | FAM83H | c.1045C>G (p.His349Asp) c.1648C>G (p.His550Asp) c.225C>G c.1102C>G (p.His368Asp) c.1063C>G (p.His355Asp) c.1366C>G (p.His456Asp) c.1213C>G (p.His405Asp) | |
| 8 | g.143728416G= | CA1825940760 | FAM83H | c.1045C= (p.His349=) c.1648C= (p.His550=) c.225C= c.1102C= (p.His368=) c.1063C= (p.His355=) c.1366C= (p.His456=) c.1213C= (p.His405=) | |
| 8 | g.143728416G>T | CA372468760 | FAM83H | c.1045C>A (p.His349Asn) c.1648C>A (p.His550Asn) c.225C>A c.1102C>A (p.His368Asn) c.1063C>A (p.His355Asn) c.1366C>A (p.His456Asn) c.1213C>A (p.His405Asn) | gnomAD v4 |
| 8 | g.143728417G>A | CA463519650 | FAM83H | c.1044C>T (p.Arg348=) c.1647C>T (p.Arg549=) c.224C>T c.1101C>T (p.Arg367=) c.1062C>T (p.Arg354=) c.1365C>T (p.Arg455=) c.1212C>T (p.Arg404=) | |
| 8 | g.143728417G>C | CA463519651 | FAM83H | c.1044C>G (p.Arg348=) c.1647C>G (p.Arg549=) c.224C>G c.1101C>G (p.Arg367=) c.1062C>G (p.Arg354=) c.1365C>G (p.Arg455=) c.1212C>G (p.Arg404=) | |
| 8 | g.143728417G>T | CA463519652 | FAM83H | c.1044C>A (p.Arg348=) c.1647C>A (p.Arg549=) c.224C>A c.1101C>A (p.Arg367=) c.1062C>A (p.Arg354=) c.1365C>A (p.Arg455=) c.1212C>A (p.Arg404=) | gnomAD v4 |
| 8 | g.143728418C>A | CA372468762 | FAM83H | c.1043G>T (p.Arg348Leu) c.1646G>T (p.Arg549Leu) c.223G>T c.1100G>T (p.Arg367Leu) c.1061G>T (p.Arg354Leu) c.1364G>T (p.Arg455Leu) c.1211G>T (p.Arg404Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.143728418C= | CA1825940761 | FAM83H | c.1043G= (p.Arg348=) c.1646G= (p.Arg549=) c.223G= c.1100G= (p.Arg367=) c.1061G= (p.Arg354=) c.1364G= (p.Arg455=) c.1211G= (p.Arg404=) | |
| 8 | g.143728418C>G | CA372468763 | FAM83H | c.1043G>C (p.Arg348Pro) c.1646G>C (p.Arg549Pro) c.223G>C c.1100G>C (p.Arg367Pro) c.1061G>C (p.Arg354Pro) c.1364G>C (p.Arg455Pro) c.1211G>C (p.Arg404Pro) | gnomAD v4 |
| 8 | g.143728418C>T | CA372468764 | FAM83H | c.1043G>A (p.Arg348His) c.1646G>A (p.Arg549His) c.223G>A c.1100G>A (p.Arg367His) c.1061G>A (p.Arg354His) c.1364G>A (p.Arg455His) c.1211G>A (p.Arg404His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728418_143728424delinsCGGTCCG | CA1825940762 | FAM83H | c.1037_1043delinsCGGACCG (p.Pro346=) c.1640_1646delinsCGGACCG (p.Pro547=) c.217_223delinsCGGACCG c.1094_1100delinsCGGACCG (p.Pro365=) c.1055_1061delinsCGGACCG (p.Pro352=) c.1358_1364delinsCGGACCG (p.Pro453=) c.1205_1211delinsCGGACCG (p.Pro402=) | |
| 8 | g.143728419G>A | CA4917533 | FAM83H | c.1042C>T (p.Arg348Cys) c.1645C>T (p.Arg549Cys) c.222C>T c.1099C>T (p.Arg367Cys) c.1060C>T (p.Arg354Cys) c.1363C>T (p.Arg455Cys) c.1210C>T (p.Arg404Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.143728419G>C | CA372468768 | FAM83H | c.1042C>G (p.Arg348Gly) c.1645C>G (p.Arg549Gly) c.222C>G c.1099C>G (p.Arg367Gly) c.1060C>G (p.Arg354Gly) c.1363C>G (p.Arg455Gly) c.1210C>G (p.Arg404Gly) | |
| 8 | g.143728419G= | CA1825940764 | FAM83H | c.1042C= (p.Arg348=) c.1645C= (p.Arg549=) c.222C= c.1099C= (p.Arg367=) c.1060C= (p.Arg354=) c.1363C= (p.Arg455=) c.1210C= (p.Arg404=) | |
| 8 | g.143728419G>T | CA372468769 | FAM83H | c.1042C>A (p.Arg348Ser) c.1645C>A (p.Arg549Ser) c.222C>A c.1099C>A (p.Arg367Ser) c.1060C>A (p.Arg354Ser) c.1363C>A (p.Arg455Ser) c.1210C>A (p.Arg404Ser) | gnomAD v4 |
| 8 | g.143728420dup | CA187605536 | FAM83H | c.1042dup (p.Arg348ProfsTer?) c.1645dup (p.Arg549ProfsTer?) c.222dup c.1099dup (p.Arg367ProfsTer?) c.1060dup (p.Arg354ProfsTer?) c.1363dup (p.Arg455ProfsTer?) c.1210dup (p.Arg404ProfsTer?) | dbSNP |
| 8 | g.143728423_143728428del | CA1825940763 | FAM83H | c.1037_1042del (p.Pro346_Asp347del) c.1640_1645del (p.Pro547_Asp548del) c.217_222del c.1094_1099del (p.Pro365_Asp366del) c.1055_1060del (p.Pro352_Asp353del) c.1358_1363del (p.Pro453_Asp454del) c.1205_1210del (p.Pro402_Asp403del) | dbSNP |
| 8 | g.143728420G>A | CA463519653 | FAM83H | c.1041C>T (p.Asp347=) c.1644C>T (p.Asp548=) c.221C>T c.1098C>T (p.Asp366=) c.1059C>T (p.Asp353=) c.1362C>T (p.Asp454=) c.1209C>T (p.Asp403=) | dbSNP gnomAD v4 |
| 8 | g.143728420G>C | CA372468771 | FAM83H | c.1041C>G (p.Asp347Glu) c.1644C>G (p.Asp548Glu) c.221C>G c.1098C>G (p.Asp366Glu) c.1059C>G (p.Asp353Glu) c.1362C>G (p.Asp454Glu) c.1209C>G (p.Asp403Glu) | gnomAD v4 |
| 8 | g.143728420G= | CA1825940765 | FAM83H | c.1041C= (p.Asp347=) c.1644C= (p.Asp548=) c.221C= c.1098C= (p.Asp366=) c.1059C= (p.Asp353=) c.1362C= (p.Asp454=) c.1209C= (p.Asp403=) | |
| 8 | g.143728420G>T | CA372468773 | FAM83H | c.1041C>A (p.Asp347Glu) c.1644C>A (p.Asp548Glu) c.221C>A c.1098C>A (p.Asp366Glu) c.1059C>A (p.Asp353Glu) c.1362C>A (p.Asp454Glu) c.1209C>A (p.Asp403Glu) | gnomAD v4 |
| 8 | g.143728421T>A | CA372468774 | FAM83H | c.1040A>T (p.Asp347Val) c.1643A>T (p.Asp548Val) c.220A>T c.1097A>T (p.Asp366Val) c.1058A>T (p.Asp353Val) c.1361A>T (p.Asp454Val) c.1208A>T (p.Asp403Val) | |
| 8 | g.143728421T>C | CA372468776 | FAM83H | c.1040A>G (p.Asp347Gly) c.1643A>G (p.Asp548Gly) c.220A>G c.1097A>G (p.Asp366Gly) c.1058A>G (p.Asp353Gly) c.1361A>G (p.Asp454Gly) c.1208A>G (p.Asp403Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.143728421T>G | CA187605540 | FAM83H | c.1040A>C (p.Asp347Ala) c.1643A>C (p.Asp548Ala) c.220A>C c.1097A>C (p.Asp366Ala) c.1058A>C (p.Asp353Ala) c.1361A>C (p.Asp454Ala) c.1208A>C (p.Asp403Ala) | dbSNP |
| 8 | g.143728421T= | CA1825940766 | FAM83H | c.1040A= (p.Asp347=) c.1643A= (p.Asp548=) c.220A= c.1097A= (p.Asp366=) c.1058A= (p.Asp353=) c.1361A= (p.Asp454=) c.1208A= (p.Asp403=) | |
| 8 | g.143728422C>A | CA372468778 | FAM83H | c.1039G>T (p.Asp347Tyr) c.1642G>T (p.Asp548Tyr) c.219G>T c.1096G>T (p.Asp366Tyr) c.1057G>T (p.Asp353Tyr) c.1360G>T (p.Asp454Tyr) c.1207G>T (p.Asp403Tyr) | gnomAD v4 |
| 8 | g.143728422C= | CA1825940767 | FAM83H | c.1039G= (p.Asp347=) c.1642G= (p.Asp548=) c.219G= c.1096G= (p.Asp366=) c.1057G= (p.Asp353=) c.1360G= (p.Asp454=) c.1207G= (p.Asp403=) | |
| 8 | g.143728422C>G | CA372468780 | FAM83H | c.1039G>C (p.Asp347His) c.1642G>C (p.Asp548His) c.219G>C c.1096G>C (p.Asp366His) c.1057G>C (p.Asp353His) c.1360G>C (p.Asp454His) c.1207G>C (p.Asp403His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728422C>T | CA372468781 | FAM83H | c.1039G>A (p.Asp347Asn) c.1642G>A (p.Asp548Asn) c.219G>A c.1096G>A (p.Asp366Asn) c.1057G>A (p.Asp353Asn) c.1360G>A (p.Asp454Asn) c.1207G>A (p.Asp403Asn) | dbSNP gnomAD v4 |
| 8 | g.143728423C>A | CA463519654 | FAM83H | c.1038G>T (p.Pro346=) c.1641G>T (p.Pro547=) c.218G>T c.1095G>T (p.Pro365=) c.1056G>T (p.Pro352=) c.1359G>T (p.Pro453=) c.1206G>T (p.Pro402=) | gnomAD v4 |
| 8 | g.143728423C>G | CA463519655 | FAM83H | c.1038G>C (p.Pro346=) c.1641G>C (p.Pro547=) c.218G>C c.1095G>C (p.Pro365=) c.1056G>C (p.Pro352=) c.1359G>C (p.Pro453=) c.1206G>C (p.Pro402=) | |
| 8 | g.143728423C>T | CA463519656 | FAM83H | c.1038G>A (p.Pro346=) c.1641G>A (p.Pro547=) c.218G>A c.1095G>A (p.Pro365=) c.1056G>A (p.Pro352=) c.1359G>A (p.Pro453=) c.1206G>A (p.Pro402=) | gnomAD v4 COSMIC |
| 8 | g.143728423_143728431del | CA2688981099 | FAM83H | c.1030_1038del (p.Leu344_Pro346del) c.1633_1641del (p.Leu545_Pro547del) c.210_218del c.1087_1095del (p.Leu363_Pro365del) c.1048_1056del (p.Leu350_Pro352del) c.1351_1359del (p.Leu451_Pro453del) c.1198_1206del (p.Leu400_Pro402del) | gnomAD v4 |
| 8 | g.143728424G>A | CA372468783 | FAM83H | c.1037C>T (p.Pro346Leu) c.1640C>T (p.Pro547Leu) c.217C>T c.1094C>T (p.Pro365Leu) c.1055C>T (p.Pro352Leu) c.1358C>T (p.Pro453Leu) c.1205C>T (p.Pro402Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728424G>C | CA372468785 | FAM83H | c.1037C>G (p.Pro346Arg) c.1640C>G (p.Pro547Arg) c.217C>G c.1094C>G (p.Pro365Arg) c.1055C>G (p.Pro352Arg) c.1358C>G (p.Pro453Arg) c.1205C>G (p.Pro402Arg) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.143728424G= | CA1825940768 | FAM83H | c.1037C= (p.Pro346=) c.1640C= (p.Pro547=) c.217C= c.1094C= (p.Pro365=) c.1055C= (p.Pro352=) c.1358C= (p.Pro453=) c.1205C= (p.Pro402=) | |
| 8 | g.143728424G>T | CA4917534 | FAM83H | c.1037C>A (p.Pro346Gln) c.1640C>A (p.Pro547Gln) c.217C>A c.1094C>A (p.Pro365Gln) c.1055C>A (p.Pro352Gln) c.1358C>A (p.Pro453Gln) c.1205C>A (p.Pro402Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728425G>A | CA372468787 | FAM83H | c.1036C>T (p.Pro346Ser) c.1639C>T (p.Pro547Ser) c.216C>T c.1093C>T (p.Pro365Ser) c.1054C>T (p.Pro352Ser) c.1357C>T (p.Pro453Ser) c.1204C>T (p.Pro402Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.143728425G>C | CA372468788 | FAM83H | c.1036C>G (p.Pro346Ala) c.1639C>G (p.Pro547Ala) c.216C>G c.1093C>G (p.Pro365Ala) c.1054C>G (p.Pro352Ala) c.1357C>G (p.Pro453Ala) c.1204C>G (p.Pro402Ala) | gnomAD v4 |
| 8 | g.143728425G= | CA1825940769 | FAM83H | c.1036C= (p.Pro346=) c.1639C= (p.Pro547=) c.216C= c.1093C= (p.Pro365=) c.1054C= (p.Pro352=) c.1357C= (p.Pro453=) c.1204C= (p.Pro402=) | |
| 8 | g.143728425G>T | CA372468790 | FAM83H | c.1036C>A (p.Pro346Thr) c.1639C>A (p.Pro547Thr) c.216C>A c.1093C>A (p.Pro365Thr) c.1054C>A (p.Pro352Thr) c.1357C>A (p.Pro453Thr) c.1204C>A (p.Pro402Thr) | gnomAD v4 |
| 8 | g.143728426G>A | CA463519657 | FAM83H | c.1035C>T (p.Asp345=) c.1638C>T (p.Asp546=) c.215C>T c.1092C>T (p.Asp364=) c.1053C>T (p.Asp351=) c.1356C>T (p.Asp452=) c.1203C>T (p.Asp401=) | gnomAD v4 |
| 8 | g.143728426G>C | CA372468793 | FAM83H | c.1035C>G (p.Asp345Glu) c.1638C>G (p.Asp546Glu) c.215C>G c.1092C>G (p.Asp364Glu) c.1053C>G (p.Asp351Glu) c.1356C>G (p.Asp452Glu) c.1203C>G (p.Asp401Glu) | |
| 8 | g.143728426G>T | CA372468792 | FAM83H | c.1035C>A (p.Asp345Glu) c.1638C>A (p.Asp546Glu) c.215C>A c.1092C>A (p.Asp364Glu) c.1053C>A (p.Asp351Glu) c.1356C>A (p.Asp452Glu) c.1203C>A (p.Asp401Glu) | gnomAD v4 |
| 8 | g.143728427T>A | CA372468794 | FAM83H | c.1034A>T (p.Asp345Val) c.1637A>T (p.Asp546Val) c.214A>T c.1091A>T (p.Asp364Val) c.1052A>T (p.Asp351Val) c.1355A>T (p.Asp452Val) c.1202A>T (p.Asp401Val) | |
| 8 | g.143728427T>C | CA372468797 | FAM83H | c.1034A>G (p.Asp345Gly) c.1637A>G (p.Asp546Gly) c.214A>G c.1091A>G (p.Asp364Gly) c.1052A>G (p.Asp351Gly) c.1355A>G (p.Asp452Gly) c.1202A>G (p.Asp401Gly) | |
| 8 | g.143728427T>G | CA372468795 | FAM83H | c.1034A>C (p.Asp345Ala) c.1637A>C (p.Asp546Ala) c.214A>C c.1091A>C (p.Asp364Ala) c.1052A>C (p.Asp351Ala) c.1355A>C (p.Asp452Ala) c.1202A>C (p.Asp401Ala) | gnomAD v4 |
| 8 | g.143728428C>A | CA372468798 | FAM83H | c.1033G>T (p.Asp345Tyr) c.1636G>T (p.Asp546Tyr) c.213G>T c.1090G>T (p.Asp364Tyr) c.1051G>T (p.Asp351Tyr) c.1354G>T (p.Asp452Tyr) c.1201G>T (p.Asp401Tyr) | dbSNP gnomAD v4 |
| 8 | g.143728428C= | CA1825940770 | FAM83H | c.1033G= (p.Asp345=) c.1636G= (p.Asp546=) c.213G= c.1090G= (p.Asp364=) c.1051G= (p.Asp351=) c.1354G= (p.Asp452=) c.1201G= (p.Asp401=) | |
| 8 | g.143728428C>G | CA372468799 | FAM83H | c.1033G>C (p.Asp345His) c.1636G>C (p.Asp546His) c.213G>C c.1090G>C (p.Asp364His) c.1051G>C (p.Asp351His) c.1354G>C (p.Asp452His) c.1201G>C (p.Asp401His) | |
| 8 | g.143728428C>T | CA372468800 | FAM83H | c.1033G>A (p.Asp345Asn) c.1636G>A (p.Asp546Asn) c.213G>A c.1090G>A (p.Asp364Asn) c.1051G>A (p.Asp351Asn) c.1354G>A (p.Asp452Asn) c.1201G>A (p.Asp401Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.143728429G>A | CA463519658 | FAM83H | c.1032C>T (p.Leu344=) c.1635C>T (p.Leu545=) c.212C>T c.1089C>T (p.Leu363=) c.1050C>T (p.Leu350=) c.1353C>T (p.Leu451=) c.1200C>T (p.Leu400=) | gnomAD v4 |
| 8 | g.143728429G>C | CA463519659 | FAM83H | c.1032C>G (p.Leu344=) c.1635C>G (p.Leu545=) c.212C>G c.1089C>G (p.Leu363=) c.1050C>G (p.Leu350=) c.1353C>G (p.Leu451=) c.1200C>G (p.Leu400=) | |
| 8 | g.143728429G= | CA1825940771 | FAM83H | c.1032C= (p.Leu344=) c.1635C= (p.Leu545=) c.212C= c.1089C= (p.Leu363=) c.1050C= (p.Leu350=) c.1353C= (p.Leu451=) c.1200C= (p.Leu400=) | |
| 8 | g.143728429G>T | CA463519660 | FAM83H | c.1032C>A (p.Leu344=) c.1635C>A (p.Leu545=) c.212C>A c.1089C>A (p.Leu363=) c.1050C>A (p.Leu350=) c.1353C>A (p.Leu451=) c.1200C>A (p.Leu400=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.143728430A>C | CA372468803 | FAM83H | c.1031T>G (p.Leu344Arg) c.1634T>G (p.Leu545Arg) c.211T>G c.1088T>G (p.Leu363Arg) c.1049T>G (p.Leu350Arg) c.1352T>G (p.Leu451Arg) c.1199T>G (p.Leu400Arg) | |
| 8 | g.143728430A>G | CA372468804 | FAM83H | c.1031T>C (p.Leu344Pro) c.1634T>C (p.Leu545Pro) c.211T>C c.1088T>C (p.Leu363Pro) c.1049T>C (p.Leu350Pro) c.1352T>C (p.Leu451Pro) c.1199T>C (p.Leu400Pro) | gnomAD v4 |
| 8 | g.143728430A>T | CA372468806 | FAM83H | c.1031T>A (p.Leu344His) c.1634T>A (p.Leu545His) c.211T>A c.1088T>A (p.Leu363His) c.1049T>A (p.Leu350His) c.1352T>A (p.Leu451His) c.1199T>A (p.Leu400His) | |
| 8 | g.143728431G>A | CA372468807 | FAM83H | c.1030C>T (p.Leu344Phe) c.1633C>T (p.Leu545Phe) c.210C>T c.1087C>T (p.Leu363Phe) c.1048C>T (p.Leu350Phe) c.1351C>T (p.Leu451Phe) c.1198C>T (p.Leu400Phe) | ClinVar |
| 8 | g.143728431G>C | CA372468809 | FAM83H | c.1030C>G (p.Leu344Val) c.1633C>G (p.Leu545Val) c.210C>G c.1087C>G (p.Leu363Val) c.1048C>G (p.Leu350Val) c.1351C>G (p.Leu451Val) c.1198C>G (p.Leu400Val) | |
| 8 | g.143728431G>T | CA372468811 | FAM83H | c.1030C>A (p.Leu344Ile) c.1633C>A (p.Leu545Ile) c.210C>A c.1087C>A (p.Leu363Ile) c.1048C>A (p.Leu350Ile) c.1351C>A (p.Leu451Ile) c.1198C>A (p.Leu400Ile) | gnomAD v4 |
| 8 | g.143728432G>A | CA463519661 | FAM83H | c.1029C>T (p.Phe343=) c.1632C>T (p.Phe544=) c.209C>T c.1086C>T (p.Phe362=) c.1047C>T (p.Phe349=) c.1350C>T (p.Phe450=) c.1197C>T (p.Phe399=) | gnomAD v4 |
| 8 | g.143728432G>C | CA372468812 | FAM83H | c.1029C>G (p.Phe343Leu) c.1632C>G (p.Phe544Leu) c.209C>G c.1086C>G (p.Phe362Leu) c.1047C>G (p.Phe349Leu) c.1350C>G (p.Phe450Leu) c.1197C>G (p.Phe399Leu) | |
| 8 | g.143728432G>T | CA372468813 | FAM83H | c.1029C>A (p.Phe343Leu) c.1632C>A (p.Phe544Leu) c.209C>A c.1086C>A (p.Phe362Leu) c.1047C>A (p.Phe349Leu) c.1350C>A (p.Phe450Leu) c.1197C>A (p.Phe399Leu) | |
| 8 | g.143728433A>C | CA372468818 | FAM83H | c.1028T>G (p.Phe343Cys) c.1631T>G (p.Phe544Cys) c.208T>G c.1085T>G (p.Phe362Cys) c.1046T>G (p.Phe349Cys) c.1349T>G (p.Phe450Cys) c.1196T>G (p.Phe399Cys) | |
| 8 | g.143728433A>G | CA372468817 | FAM83H | c.1028T>C (p.Phe343Ser) c.1631T>C (p.Phe544Ser) c.208T>C c.1085T>C (p.Phe362Ser) c.1046T>C (p.Phe349Ser) c.1349T>C (p.Phe450Ser) c.1196T>C (p.Phe399Ser) | |
| 8 | g.143728433A>T | CA372468815 | FAM83H | c.1028T>A (p.Phe343Tyr) c.1631T>A (p.Phe544Tyr) c.208T>A c.1085T>A (p.Phe362Tyr) c.1046T>A (p.Phe349Tyr) c.1349T>A (p.Phe450Tyr) c.1196T>A (p.Phe399Tyr) | |
| 8 | g.143728434A= | CA1825940772 | FAM83H | c.1027T= (p.Phe343=) c.1630T= (p.Phe544=) c.207T= c.1084T= (p.Phe362=) c.1045T= (p.Phe349=) c.1348T= (p.Phe450=) c.1195T= (p.Phe399=) | |
| 8 | g.143728434A>C | CA372468819 | FAM83H | c.1027T>G (p.Phe343Val) c.1630T>G (p.Phe544Val) c.207T>G c.1084T>G (p.Phe362Val) c.1045T>G (p.Phe349Val) c.1348T>G (p.Phe450Val) c.1195T>G (p.Phe399Val) | |
| 8 | g.143728434A>G | CA4917535 | FAM83H | c.1027T>C (p.Phe343Leu) c.1630T>C (p.Phe544Leu) c.207T>C c.1084T>C (p.Phe362Leu) c.1045T>C (p.Phe349Leu) c.1348T>C (p.Phe450Leu) c.1195T>C (p.Phe399Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.143728434A>T | CA372468821 | FAM83H | c.1027T>A (p.Phe343Ile) c.1630T>A (p.Phe544Ile) c.207T>A c.1084T>A (p.Phe362Ile) c.1045T>A (p.Phe349Ile) c.1348T>A (p.Phe450Ile) c.1195T>A (p.Phe399Ile) | |
| 8 | g.143728435G>A | CA463519662 | FAM83H | c.1026C>T (p.Ser342=) c.1629C>T (p.Ser543=) c.206C>T c.1083C>T (p.Ser361=) c.1044C>T (p.Ser348=) c.1347C>T (p.Ser449=) c.1194C>T (p.Ser398=) | dbSNP gnomAD v4 |
| 8 | g.143728435G>C | CA463519663 | FAM83H | c.1026C>G (p.Ser342=) c.1629C>G (p.Ser543=) c.206C>G c.1083C>G (p.Ser361=) c.1044C>G (p.Ser348=) c.1347C>G (p.Ser449=) c.1194C>G (p.Ser398=) | |
| 8 | g.143728435G= | CA1825940773 | FAM83H | c.1026C= (p.Ser342=) c.1629C= (p.Ser543=) c.206C= c.1083C= (p.Ser361=) c.1044C= (p.Ser348=) c.1347C= (p.Ser449=) c.1194C= (p.Ser398=) | |
| 8 | g.143728435G>T | CA463519664 | FAM83H | c.1026C>A (p.Ser342=) c.1629C>A (p.Ser543=) c.206C>A c.1083C>A (p.Ser361=) c.1044C>A (p.Ser348=) c.1347C>A (p.Ser449=) c.1194C>A (p.Ser398=) | gnomAD v4 |
| 8 | g.143728436G>A | CA372468823 | FAM83H | c.1025C>T (p.Ser342Phe) c.1628C>T (p.Ser543Phe) c.205C>T c.1082C>T (p.Ser361Phe) c.1043C>T (p.Ser348Phe) c.1346C>T (p.Ser449Phe) c.1193C>T (p.Ser398Phe) | dbSNP |
| 8 | g.143728436G>C | CA372468824 | FAM83H | c.1025C>G (p.Ser342Cys) c.1628C>G (p.Ser543Cys) c.205C>G c.1082C>G (p.Ser361Cys) c.1043C>G (p.Ser348Cys) c.1346C>G (p.Ser449Cys) c.1193C>G (p.Ser398Cys) | |
| 8 | g.143728436G= | CA1825940774 | FAM83H | c.1025C= (p.Ser342=) c.1628C= (p.Ser543=) c.205C= c.1082C= (p.Ser361=) c.1043C= (p.Ser348=) c.1346C= (p.Ser449=) c.1193C= (p.Ser398=) | |
| 8 | g.143728436G>T | CA372468826 | FAM83H | c.1025C>A (p.Ser342Tyr) c.1628C>A (p.Ser543Tyr) c.205C>A c.1082C>A (p.Ser361Tyr) c.1043C>A (p.Ser348Tyr) c.1346C>A (p.Ser449Tyr) c.1193C>A (p.Ser398Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.143728437A>C | CA372468827 | FAM83H | c.1024T>G (p.Ser342Ala) c.1627T>G (p.Ser543Ala) c.204T>G c.1081T>G (p.Ser361Ala) c.1042T>G (p.Ser348Ala) c.1345T>G (p.Ser449Ala) c.1192T>G (p.Ser398Ala) | |
| 8 | g.143728437A>G | CA372468829 | FAM83H | c.1024T>C (p.Ser342Pro) c.1627T>C (p.Ser543Pro) c.204T>C c.1081T>C (p.Ser361Pro) c.1042T>C (p.Ser348Pro) c.1345T>C (p.Ser449Pro) c.1192T>C (p.Ser398Pro) | gnomAD v4 |
| 8 | g.143728437A>T | CA372468830 | FAM83H | c.1024T>A (p.Ser342Thr) c.1627T>A (p.Ser543Thr) c.204T>A c.1081T>A (p.Ser361Thr) c.1042T>A (p.Ser348Thr) c.1345T>A (p.Ser449Thr) c.1192T>A (p.Ser398Thr) | |
| 8 | g.143728438G>A | CA187605546 | FAM83H | c.1023C>T (p.Pro341=) c.1626C>T (p.Pro542=) c.203C>T c.1080C>T (p.Pro360=) c.1041C>T (p.Pro347=) c.1344C>T (p.Pro448=) c.1191C>T (p.Pro397=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728438G>C | CA463519665 | FAM83H | c.1023C>G (p.Pro341=) c.1626C>G (p.Pro542=) c.203C>G c.1080C>G (p.Pro360=) c.1041C>G (p.Pro347=) c.1344C>G (p.Pro448=) c.1191C>G (p.Pro397=) | gnomAD v4 |
| 8 | g.143728438G= | CA1825940775 | FAM83H | c.1023C= (p.Pro341=) c.1626C= (p.Pro542=) c.203C= c.1080C= (p.Pro360=) c.1041C= (p.Pro347=) c.1344C= (p.Pro448=) c.1191C= (p.Pro397=) | |
| 8 | g.143728438G>T | CA463519666 | FAM83H | c.1023C>A (p.Pro341=) c.1626C>A (p.Pro542=) c.203C>A c.1080C>A (p.Pro360=) c.1041C>A (p.Pro347=) c.1344C>A (p.Pro448=) c.1191C>A (p.Pro397=) | gnomAD v4 |
| 8 | g.143728439G>A | CA4917536 | FAM83H | c.1022C>T (p.Pro341Leu) c.1625C>T (p.Pro542Leu) c.202C>T c.1079C>T (p.Pro360Leu) c.1040C>T (p.Pro347Leu) c.1343C>T (p.Pro448Leu) c.1190C>T (p.Pro397Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.143728439G>C | CA372468831 | FAM83H | c.1022C>G (p.Pro341Arg) c.1625C>G (p.Pro542Arg) c.202C>G c.1079C>G (p.Pro360Arg) c.1040C>G (p.Pro347Arg) c.1343C>G (p.Pro448Arg) c.1190C>G (p.Pro397Arg) | |
| 8 | g.143728439G= | CA1825940776 | FAM83H | c.1022C= (p.Pro341=) c.1625C= (p.Pro542=) c.202C= c.1079C= (p.Pro360=) c.1040C= (p.Pro347=) c.1343C= (p.Pro448=) c.1190C= (p.Pro397=) | |
| 8 | g.143728439G>T | CA372468832 | FAM83H | c.1022C>A (p.Pro341His) c.1625C>A (p.Pro542His) c.202C>A c.1079C>A (p.Pro360His) c.1040C>A (p.Pro347His) c.1343C>A (p.Pro448His) c.1190C>A (p.Pro397His) | dbSNP gnomAD v4 |
| 8 | g.143728440G>A | CA372468837 | FAM83H | c.1021C>T (p.Pro341Ser) c.1624C>T (p.Pro542Ser) c.201C>T c.1078C>T (p.Pro360Ser) c.1039C>T (p.Pro347Ser) c.1342C>T (p.Pro448Ser) c.1189C>T (p.Pro397Ser) | gnomAD v4 |
| 8 | g.143728440G>C | CA4917537 | FAM83H | c.1021C>G (p.Pro341Ala) c.1624C>G (p.Pro542Ala) c.201C>G c.1078C>G (p.Pro360Ala) c.1039C>G (p.Pro347Ala) c.1342C>G (p.Pro448Ala) c.1189C>G (p.Pro397Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728440G= | CA1825940777 | FAM83H | c.1021C= (p.Pro341=) c.1624C= (p.Pro542=) c.201C= c.1078C= (p.Pro360=) c.1039C= (p.Pro347=) c.1342C= (p.Pro448=) c.1189C= (p.Pro397=) | |
| 8 | g.143728440G>T | CA372468835 | FAM83H | c.1021C>A (p.Pro341Thr) c.1624C>A (p.Pro542Thr) c.201C>A c.1078C>A (p.Pro360Thr) c.1039C>A (p.Pro347Thr) c.1342C>A (p.Pro448Thr) c.1189C>A (p.Pro397Thr) | gnomAD v4 |
| 8 | g.143728441G>A | CA463519667 | FAM83H | c.1020C>T (p.Phe340=) c.1623C>T (p.Phe541=) c.200C>T c.1077C>T (p.Phe359=) c.1038C>T (p.Phe346=) c.1341C>T (p.Phe447=) c.1188C>T (p.Phe396=) | gnomAD v4 |
| 8 | g.143728441G>C | CA372468838 | FAM83H | c.1020C>G (p.Phe340Leu) c.1623C>G (p.Phe541Leu) c.200C>G c.1077C>G (p.Phe359Leu) c.1038C>G (p.Phe346Leu) c.1341C>G (p.Phe447Leu) c.1188C>G (p.Phe396Leu) | gnomAD v4 |
| 8 | g.143728441G>T | CA372468840 | FAM83H | c.1020C>A (p.Phe340Leu) c.1623C>A (p.Phe541Leu) c.200C>A c.1077C>A (p.Phe359Leu) c.1038C>A (p.Phe346Leu) c.1341C>A (p.Phe447Leu) c.1188C>A (p.Phe396Leu) | gnomAD v4 |
| 8 | g.143728442A>C | CA372468841 | FAM83H | c.1019T>G (p.Phe340Cys) c.1622T>G (p.Phe541Cys) c.199T>G c.1076T>G (p.Phe359Cys) c.1037T>G (p.Phe346Cys) c.1340T>G (p.Phe447Cys) c.1187T>G (p.Phe396Cys) | |
| 8 | g.143728442A>G | CA372468842 | FAM83H | c.1019T>C (p.Phe340Ser) c.1622T>C (p.Phe541Ser) c.199T>C c.1076T>C (p.Phe359Ser) c.1037T>C (p.Phe346Ser) c.1340T>C (p.Phe447Ser) c.1187T>C (p.Phe396Ser) | |
| 8 | g.143728442A>T | CA372468843 | FAM83H | c.1019T>A (p.Phe340Tyr) c.1622T>A (p.Phe541Tyr) c.199T>A c.1076T>A (p.Phe359Tyr) c.1037T>A (p.Phe346Tyr) c.1340T>A (p.Phe447Tyr) c.1187T>A (p.Phe396Tyr) | |
| 8 | g.143728443A>C | CA372468848 | FAM83H | c.1018T>G (p.Phe340Val) c.1621T>G (p.Phe541Val) c.198T>G c.1075T>G (p.Phe359Val) c.1036T>G (p.Phe346Val) c.1339T>G (p.Phe447Val) c.1186T>G (p.Phe396Val) | |
| 8 | g.143728443A>G | CA372468846 | FAM83H | c.1018T>C (p.Phe340Leu) c.1621T>C (p.Phe541Leu) c.198T>C c.1075T>C (p.Phe359Leu) c.1036T>C (p.Phe346Leu) c.1339T>C (p.Phe447Leu) c.1186T>C (p.Phe396Leu) | |
| 8 | g.143728443A>T | CA372468844 | FAM83H | c.1018T>A (p.Phe340Ile) c.1621T>A (p.Phe541Ile) c.198T>A c.1075T>A (p.Phe359Ile) c.1036T>A (p.Phe346Ile) c.1339T>A (p.Phe447Ile) c.1186T>A (p.Phe396Ile) | |
| 8 | g.143728444G>A | CA463519668 | FAM83H | c.1017C>T (p.Gly339=) c.1620C>T (p.Gly540=) c.197C>T c.1074C>T (p.Gly358=) c.1035C>T (p.Gly345=) c.1338C>T (p.Gly446=) c.1185C>T (p.Gly395=) | gnomAD v4 |
| 8 | g.143728444G>C | CA463519670 | FAM83H | c.1017C>G (p.Gly339=) c.1620C>G (p.Gly540=) c.197C>G c.1074C>G (p.Gly358=) c.1035C>G (p.Gly345=) c.1338C>G (p.Gly446=) c.1185C>G (p.Gly395=) | |
| 8 | g.143728444G>T | CA463519669 | FAM83H | c.1017C>A (p.Gly339=) c.1620C>A (p.Gly540=) c.197C>A c.1074C>A (p.Gly358=) c.1035C>A (p.Gly345=) c.1338C>A (p.Gly446=) c.1185C>A (p.Gly395=) | gnomAD v4 |
| 8 | g.143728445C>A | CA372468849 | FAM83H | c.1016G>T (p.Gly339Val) c.1619G>T (p.Gly540Val) c.196G>T c.1073G>T (p.Gly358Val) c.1034G>T (p.Gly345Val) c.1337G>T (p.Gly446Val) c.1184G>T (p.Gly395Val) | gnomAD v4 |
| 8 | g.143728445C>G | CA372468850 | FAM83H | c.1016G>C (p.Gly339Ala) c.1619G>C (p.Gly540Ala) c.196G>C c.1073G>C (p.Gly358Ala) c.1034G>C (p.Gly345Ala) c.1337G>C (p.Gly446Ala) c.1184G>C (p.Gly395Ala) | |
| 8 | g.143728445C>T | CA372468851 | FAM83H | c.1016G>A (p.Gly339Asp) c.1619G>A (p.Gly540Asp) c.196G>A c.1073G>A (p.Gly358Asp) c.1034G>A (p.Gly345Asp) c.1337G>A (p.Gly446Asp) c.1184G>A (p.Gly395Asp) | gnomAD v4 |
| 8 | g.143728447del | CA2688981144 | FAM83H | c.1016del (p.Gly339AlafsTer?) c.1619del (p.Gly540AlafsTer?) c.196del c.1073del (p.Gly358AlafsTer?) c.1034del (p.Gly345AlafsTer?) c.1337del (p.Gly446AlafsTer?) c.1184del (p.Gly395AlafsTer?) | gnomAD v4 |
| 8 | g.143728446C>A | CA372468853 | FAM83H | c.1015G>T (p.Gly339Cys) c.1618G>T (p.Gly540Cys) c.195G>T c.1072G>T (p.Gly358Cys) c.1033G>T (p.Gly345Cys) c.1336G>T (p.Gly446Cys) c.1183G>T (p.Gly395Cys) | gnomAD v4 |
| 8 | g.143728446C>G | CA372468854 | FAM83H | c.1015G>C (p.Gly339Arg) c.1618G>C (p.Gly540Arg) c.195G>C c.1072G>C (p.Gly358Arg) c.1033G>C (p.Gly345Arg) c.1336G>C (p.Gly446Arg) c.1183G>C (p.Gly395Arg) | gnomAD v4 |
| 8 | g.143728446C>T | CA372468856 | FAM83H | c.1015G>A (p.Gly339Ser) c.1618G>A (p.Gly540Ser) c.195G>A c.1072G>A (p.Gly358Ser) c.1033G>A (p.Gly345Ser) c.1336G>A (p.Gly446Ser) c.1183G>A (p.Gly395Ser) | ClinVar gnomAD v4 |
| 8 | g.143728447C>A | CA463519671 | FAM83H | c.1014G>T (p.Leu338=) c.1617G>T (p.Leu539=) c.194G>T c.1071G>T (p.Leu357=) c.1032G>T (p.Leu344=) c.1335G>T (p.Leu445=) c.1182G>T (p.Leu394=) | gnomAD v4 |
| 8 | g.143728447C= | CA1825940778 | FAM83H | c.1014G= (p.Leu338=) c.1617G= (p.Leu539=) c.194G= c.1071G= (p.Leu357=) c.1032G= (p.Leu344=) c.1335G= (p.Leu445=) c.1182G= (p.Leu394=) | |
| 8 | g.143728447C>G | CA463519672 | FAM83H | c.1014G>C (p.Leu338=) c.1617G>C (p.Leu539=) c.194G>C c.1071G>C (p.Leu357=) c.1032G>C (p.Leu344=) c.1335G>C (p.Leu445=) c.1182G>C (p.Leu394=) | |
| 8 | g.143728447C>T | CA463519674 | FAM83H | c.1014G>A (p.Leu338=) c.1617G>A (p.Leu539=) c.194G>A c.1071G>A (p.Leu357=) c.1032G>A (p.Leu344=) c.1335G>A (p.Leu445=) c.1182G>A (p.Leu394=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728448A= | CA1825940779 | FAM83H | c.1013T= (p.Leu338=) c.1616T= (p.Leu539=) c.193T= c.1070T= (p.Leu357=) c.1031T= (p.Leu344=) c.1334T= (p.Leu445=) c.1181T= (p.Leu394=) | |
| 8 | g.143728448A>C | CA372468861 | FAM83H | c.1013T>G (p.Leu338Arg) c.1616T>G (p.Leu539Arg) c.193T>G c.1070T>G (p.Leu357Arg) c.1031T>G (p.Leu344Arg) c.1334T>G (p.Leu445Arg) c.1181T>G (p.Leu394Arg) | |
| 8 | g.143728448A>G | CA372468858 | FAM83H | c.1013T>C (p.Leu338Pro) c.1616T>C (p.Leu539Pro) c.193T>C c.1070T>C (p.Leu357Pro) c.1031T>C (p.Leu344Pro) c.1334T>C (p.Leu445Pro) c.1181T>C (p.Leu394Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.143728448A>T | CA372468859 | FAM83H | c.1013T>A (p.Leu338Gln) c.1616T>A (p.Leu539Gln) c.193T>A c.1070T>A (p.Leu357Gln) c.1031T>A (p.Leu344Gln) c.1334T>A (p.Leu445Gln) c.1181T>A (p.Leu394Gln) | |
| 8 | g.143728449G>A | CA463519677 | FAM83H | c.1012C>T (p.Leu338=) c.1615C>T (p.Leu539=) c.192C>T c.1069C>T (p.Leu357=) c.1030C>T (p.Leu344=) c.1333C>T (p.Leu445=) c.1180C>T (p.Leu394=) | gnomAD v4 |
| 8 | g.143728449G>C | CA372468862 | FAM83H | c.1012C>G (p.Leu338Val) c.1615C>G (p.Leu539Val) c.192C>G c.1069C>G (p.Leu357Val) c.1030C>G (p.Leu344Val) c.1333C>G (p.Leu445Val) c.1180C>G (p.Leu394Val) | |
| 8 | g.143728449G>T | CA372468863 | FAM83H | c.1012C>A (p.Leu338Met) c.1615C>A (p.Leu539Met) c.192C>A c.1069C>A (p.Leu357Met) c.1030C>A (p.Leu344Met) c.1333C>A (p.Leu445Met) c.1180C>A (p.Leu394Met) | gnomAD v4 |
| 8 | g.143728450G>A | CA463519680 | FAM83H | c.1011C>T (p.Gly337=) c.1614C>T (p.Gly538=) c.191C>T c.1068C>T (p.Gly356=) c.1029C>T (p.Gly343=) c.1332C>T (p.Gly444=) c.1179C>T (p.Gly393=) | gnomAD v4 |
| 8 | g.143728450G>C | CA463519679 | FAM83H | c.1011C>G (p.Gly337=) c.1614C>G (p.Gly538=) c.191C>G c.1068C>G (p.Gly356=) c.1029C>G (p.Gly343=) c.1332C>G (p.Gly444=) c.1179C>G (p.Gly393=) | |
| 8 | g.143728450G>T | CA463519678 | FAM83H | c.1011C>A (p.Gly337=) c.1614C>A (p.Gly538=) c.191C>A c.1068C>A (p.Gly356=) c.1029C>A (p.Gly343=) c.1332C>A (p.Gly444=) c.1179C>A (p.Gly393=) | gnomAD v4 |
| 8 | g.143728450_143728455del | CA2579273274 | FAM83H | c.1006_1011del (p.Glu336_Gly337del) c.1609_1614del (p.Glu537_Gly538del) c.186_191del c.1063_1068del (p.Glu355_Gly356del) c.1024_1029del (p.Glu342_Gly343del) c.1327_1332del (p.Glu443_Gly444del) c.1174_1179del (p.Glu392_Gly393del) | |
| 8 | g.143728451C>A | CA372468865 | FAM83H | c.1010G>T (p.Gly337Val) c.1613G>T (p.Gly538Val) c.190G>T c.1067G>T (p.Gly356Val) c.1028G>T (p.Gly343Val) c.1331G>T (p.Gly444Val) c.1178G>T (p.Gly393Val) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.143728451C= | CA1825940780 | FAM83H | c.1010G= (p.Gly337=) c.1613G= (p.Gly538=) c.190G= c.1067G= (p.Gly356=) c.1028G= (p.Gly343=) c.1331G= (p.Gly444=) c.1178G= (p.Gly393=) | |
| 8 | g.143728451C>G | CA372468866 | FAM83H | c.1010G>C (p.Gly337Ala) c.1613G>C (p.Gly538Ala) c.190G>C c.1067G>C (p.Gly356Ala) c.1028G>C (p.Gly343Ala) c.1331G>C (p.Gly444Ala) c.1178G>C (p.Gly393Ala) | gnomAD v4 |
| 8 | g.143728451C>T | CA372468867 | FAM83H | c.1010G>A (p.Gly337Asp) c.1613G>A (p.Gly538Asp) c.190G>A c.1067G>A (p.Gly356Asp) c.1028G>A (p.Gly343Asp) c.1331G>A (p.Gly444Asp) c.1178G>A (p.Gly393Asp) | gnomAD v4 |
| 8 | g.143728452C>A | CA372468869 | FAM83H | c.1009G>T (p.Gly337Cys) c.1612G>T (p.Gly538Cys) c.189G>T c.1066G>T (p.Gly356Cys) c.1027G>T (p.Gly343Cys) c.1330G>T (p.Gly444Cys) c.1177G>T (p.Gly393Cys) | gnomAD v4 |
| 8 | g.143728452C>G | CA372468871 | FAM83H | c.1009G>C (p.Gly337Arg) c.1612G>C (p.Gly538Arg) c.189G>C c.1066G>C (p.Gly356Arg) c.1027G>C (p.Gly343Arg) c.1330G>C (p.Gly444Arg) c.1177G>C (p.Gly393Arg) | |
| 8 | g.143728452C>T | CA372468872 | FAM83H | c.1009G>A (p.Gly337Ser) c.1612G>A (p.Gly538Ser) c.189G>A c.1066G>A (p.Gly356Ser) c.1027G>A (p.Gly343Ser) c.1330G>A (p.Gly444Ser) c.1177G>A (p.Gly393Ser) | gnomAD v3 gnomAD v4 |
| 8 | g.143728453C>A | CA372468873 | FAM83H | c.1008G>T (p.Glu336Asp) c.1611G>T (p.Glu537Asp) c.188G>T c.1065G>T (p.Glu355Asp) c.1026G>T (p.Glu342Asp) c.1329G>T (p.Glu443Asp) c.1176G>T (p.Glu392Asp) | gnomAD v4 |
| 8 | g.143728453C= | CA1825940781 | FAM83H | c.1008G= (p.Glu336=) c.1611G= (p.Glu537=) c.188G= c.1065G= (p.Glu355=) c.1026G= (p.Glu342=) c.1329G= (p.Glu443=) c.1176G= (p.Glu392=) | |
| 8 | g.143728453C>G | CA372468874 | FAM83H | c.1008G>C (p.Glu336Asp) c.1611G>C (p.Glu537Asp) c.188G>C c.1065G>C (p.Glu355Asp) c.1026G>C (p.Glu342Asp) c.1329G>C (p.Glu443Asp) c.1176G>C (p.Glu392Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.143728453C>T | CA463519682 | FAM83H | c.1008G>A (p.Glu336=) c.1611G>A (p.Glu537=) c.188G>A c.1065G>A (p.Glu355=) c.1026G>A (p.Glu342=) c.1329G>A (p.Glu443=) c.1176G>A (p.Glu392=) | |
| 8 | g.143728454T>A | CA372468875 | FAM83H | c.1007A>T (p.Glu336Val) c.1610A>T (p.Glu537Val) c.187A>T c.1064A>T (p.Glu355Val) c.1025A>T (p.Glu342Val) c.1328A>T (p.Glu443Val) c.1175A>T (p.Glu392Val) | |
| 8 | g.143728454T>C | CA372468877 | FAM83H | c.1007A>G (p.Glu336Gly) c.1610A>G (p.Glu537Gly) c.187A>G c.1064A>G (p.Glu355Gly) c.1025A>G (p.Glu342Gly) c.1328A>G (p.Glu443Gly) c.1175A>G (p.Glu392Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.143728454T>G | CA372468878 | FAM83H | c.1007A>C (p.Glu336Ala) c.1610A>C (p.Glu537Ala) c.187A>C c.1064A>C (p.Glu355Ala) c.1025A>C (p.Glu342Ala) c.1328A>C (p.Glu443Ala) c.1175A>C (p.Glu392Ala) | dbSNP |
| 8 | g.143728454T= | CA1825940782 | FAM83H | c.1007A= (p.Glu336=) c.1610A= (p.Glu537=) c.187A= c.1064A= (p.Glu355=) c.1025A= (p.Glu342=) c.1328A= (p.Glu443=) c.1175A= (p.Glu392=) | |
| 8 | g.143728455C>A | CA372468879 | FAM83H | c.1006G>T (p.Glu336Ter) c.1609G>T (p.Glu537Ter) c.186G>T c.1063G>T (p.Glu355Ter) c.1024G>T (p.Glu342Ter) c.1327G>T (p.Glu443Ter) c.1174G>T (p.Glu392Ter) | gnomAD v4 |
| 8 | g.143728455C>G | CA372468883 | FAM83H | c.1006G>C (p.Glu336Gln) c.1609G>C (p.Glu537Gln) c.186G>C c.1063G>C (p.Glu355Gln) c.1024G>C (p.Glu342Gln) c.1327G>C (p.Glu443Gln) c.1174G>C (p.Glu392Gln) | gnomAD v4 |
| 8 | g.143728455C>T | CA372468881 | FAM83H | c.1006G>A (p.Glu336Lys) c.1609G>A (p.Glu537Lys) c.186G>A c.1063G>A (p.Glu355Lys) c.1024G>A (p.Glu342Lys) c.1327G>A (p.Glu443Lys) c.1174G>A (p.Glu392Lys) | gnomAD v4 |
| 8 | g.143728456T>A | CA372468885 | FAM83H | c.1005A>T (p.Glu335Asp) c.1608A>T (p.Glu536Asp) c.185A>T c.1062A>T (p.Glu354Asp) c.1023A>T (p.Glu341Asp) c.1326A>T (p.Glu442Asp) c.1173A>T (p.Glu391Asp) | gnomAD v4 |
| 8 | g.143728456T>C | CA463519687 | FAM83H | c.1005A>G (p.Glu335=) c.1608A>G (p.Glu536=) c.185A>G c.1062A>G (p.Glu354=) c.1023A>G (p.Glu341=) c.1326A>G (p.Glu442=) c.1173A>G (p.Glu391=) | dbSNP gnomAD v4 |
| 8 | g.143728456T>G | CA372468886 | FAM83H | c.1005A>C (p.Glu335Asp) c.1608A>C (p.Glu536Asp) c.185A>C c.1062A>C (p.Glu354Asp) c.1023A>C (p.Glu341Asp) c.1326A>C (p.Glu442Asp) c.1173A>C (p.Glu391Asp) | |
| 8 | g.143728456T= | CA1825940783 | FAM83H | c.1005A= (p.Glu335=) c.1608A= (p.Glu536=) c.185A= c.1062A= (p.Glu354=) c.1023A= (p.Glu341=) c.1326A= (p.Glu442=) c.1173A= (p.Glu391=) | |
| 8 | g.143728457T>A | CA372468888 | FAM83H | c.1004A>T (p.Glu335Val) c.1607A>T (p.Glu536Val) c.184A>T c.1061A>T (p.Glu354Val) c.1022A>T (p.Glu341Val) c.1325A>T (p.Glu442Val) c.1172A>T (p.Glu391Val) | |
| 8 | g.143728457T>C | CA372468889 | FAM83H | c.1004A>G (p.Glu335Gly) c.1607A>G (p.Glu536Gly) c.184A>G c.1061A>G (p.Glu354Gly) c.1022A>G (p.Glu341Gly) c.1325A>G (p.Glu442Gly) c.1172A>G (p.Glu391Gly) | |
| 8 | g.143728457T>G | CA372468891 | FAM83H | c.1004A>C (p.Glu335Ala) c.1607A>C (p.Glu536Ala) c.184A>C c.1061A>C (p.Glu354Ala) c.1022A>C (p.Glu341Ala) c.1325A>C (p.Glu442Ala) c.1172A>C (p.Glu391Ala) | |
| 8 | g.143728458C>A | CA372468892 | FAM83H | c.1003G>T (p.Glu335Ter) c.1606G>T (p.Glu536Ter) c.183G>T c.1060G>T (p.Glu354Ter) c.1021G>T (p.Glu341Ter) c.1324G>T (p.Glu442Ter) c.1171G>T (p.Glu391Ter) | gnomAD v4 |
| 8 | g.143728458C= | CA1825940784 | FAM83H | c.1003G= (p.Glu335=) c.1606G= (p.Glu536=) c.183G= c.1060G= (p.Glu354=) c.1021G= (p.Glu341=) c.1324G= (p.Glu442=) c.1171G= (p.Glu391=) | |
| 8 | g.143728458C>G | CA372468893 | FAM83H | c.1003G>C (p.Glu335Gln) c.1606G>C (p.Glu536Gln) c.183G>C c.1060G>C (p.Glu354Gln) c.1021G>C (p.Glu341Gln) c.1324G>C (p.Glu442Gln) c.1171G>C (p.Glu391Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728458C>T | CA372468895 | FAM83H | c.1003G>A (p.Glu335Lys) c.1606G>A (p.Glu536Lys) c.183G>A c.1060G>A (p.Glu354Lys) c.1021G>A (p.Glu341Lys) c.1324G>A (p.Glu442Lys) c.1171G>A (p.Glu391Lys) | gnomAD v4 |
| 8 | g.143728460del | CA2688981175 | FAM83H | c.1003del (p.Glu335LysfsTer?) c.1606del (p.Glu536LysfsTer?) c.183del c.1060del (p.Glu354LysfsTer?) c.1021del (p.Glu341LysfsTer?) c.1324del (p.Glu442LysfsTer?) c.1171del (p.Glu391LysfsTer?) | gnomAD v4 |
| 8 | g.143728459C>A | CA463519688 | FAM83H | c.1002G>T (p.Arg334=) c.1605G>T (p.Arg535=) c.182G>T c.1059G>T (p.Arg353=) c.1020G>T (p.Arg340=) c.1323G>T (p.Arg441=) c.1170G>T (p.Arg390=) | gnomAD v4 |
| 8 | g.143728459C>G | CA463519689 | FAM83H | c.1002G>C (p.Arg334=) c.1605G>C (p.Arg535=) c.182G>C c.1059G>C (p.Arg353=) c.1020G>C (p.Arg340=) c.1323G>C (p.Arg441=) c.1170G>C (p.Arg390=) | |
| 8 | g.143728459C>T | CA463519691 | FAM83H | c.1002G>A (p.Arg334=) c.1605G>A (p.Arg535=) c.182G>A c.1059G>A (p.Arg353=) c.1020G>A (p.Arg340=) c.1323G>A (p.Arg441=) c.1170G>A (p.Arg390=) | gnomAD v4 |
| 8 | g.143728460C>A | CA372468897 | FAM83H | c.1001G>T (p.Arg334Leu) c.1604G>T (p.Arg535Leu) c.181G>T c.1058G>T (p.Arg353Leu) c.1019G>T (p.Arg340Leu) c.1322G>T (p.Arg441Leu) c.1169G>T (p.Arg390Leu) | gnomAD v4 COSMIC |
| 8 | g.143728460C= | CA1825940785 | FAM83H | c.1001G= (p.Arg334=) c.1604G= (p.Arg535=) c.181G= c.1058G= (p.Arg353=) c.1019G= (p.Arg340=) c.1322G= (p.Arg441=) c.1169G= (p.Arg390=) | |
| 8 | g.143728460C>G | CA372468898 | FAM83H | c.1001G>C (p.Arg334Pro) c.1604G>C (p.Arg535Pro) c.181G>C c.1058G>C (p.Arg353Pro) c.1019G>C (p.Arg340Pro) c.1322G>C (p.Arg441Pro) c.1169G>C (p.Arg390Pro) | gnomAD v4 |
| 8 | g.143728460C>T | CA4917538 | FAM83H | c.1001G>A (p.Arg334Gln) c.1604G>A (p.Arg535Gln) c.181G>A c.1058G>A (p.Arg353Gln) c.1019G>A (p.Arg340Gln) c.1322G>A (p.Arg441Gln) c.1169G>A (p.Arg390Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728461G>A | CA372468901 | FAM83H | c.1000C>T (p.Arg334Trp) c.1603C>T (p.Arg535Trp) c.180C>T c.1057C>T (p.Arg353Trp) c.1018C>T (p.Arg340Trp) c.1321C>T (p.Arg441Trp) c.1168C>T (p.Arg390Trp) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.143728461G>C | CA372468903 | FAM83H | c.1000C>G (p.Arg334Gly) c.1603C>G (p.Arg535Gly) c.180C>G c.1057C>G (p.Arg353Gly) c.1018C>G (p.Arg340Gly) c.1321C>G (p.Arg441Gly) c.1168C>G (p.Arg390Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.143728461G= | CA1825940786 | FAM83H | c.1000C= (p.Arg334=) c.1603C= (p.Arg535=) c.180C= c.1057C= (p.Arg353=) c.1018C= (p.Arg340=) c.1321C= (p.Arg441=) c.1168C= (p.Arg390=) | |
| 8 | g.143728461G>T | CA463519692 | FAM83H | c.1000C>A (p.Arg334=) c.1603C>A (p.Arg535=) c.180C>A c.1057C>A (p.Arg353=) c.1018C>A (p.Arg340=) c.1321C>A (p.Arg441=) c.1168C>A (p.Arg390=) | gnomAD v4 |
| 8 | g.143728464del | CA2688981187 | FAM83H | c.1000del (p.Arg334GlyfsTer?) c.1603del (p.Arg535GlyfsTer?) c.180del c.1057del (p.Arg353GlyfsTer?) c.1018del (p.Arg340GlyfsTer?) c.1321del (p.Arg441GlyfsTer?) c.1168del (p.Arg390GlyfsTer?) | dbSNP gnomAD v4 |
| 8 | g.143728462G>A | CA463519694 | FAM83H | c.999C>T (p.Pro333=) c.1602C>T (p.Pro534=) c.179C>T c.1056C>T (p.Pro352=) c.1017C>T (p.Pro339=) c.1320C>T (p.Pro440=) c.1167C>T (p.Pro389=) | gnomAD v4 |
| 8 | g.143728462G>C | CA463519696 | FAM83H | c.999C>G (p.Pro333=) c.1602C>G (p.Pro534=) c.179C>G c.1056C>G (p.Pro352=) c.1017C>G (p.Pro339=) c.1320C>G (p.Pro440=) c.1167C>G (p.Pro389=) | |
| 8 | g.143728462G>T | CA463519698 | FAM83H | c.999C>A (p.Pro333=) c.1602C>A (p.Pro534=) c.179C>A c.1056C>A (p.Pro352=) c.1017C>A (p.Pro339=) c.1320C>A (p.Pro440=) c.1167C>A (p.Pro389=) | gnomAD v4 |