Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.143728196_143728228dup | CA2688980693 | FAM83H | c.1240_1272dup (p.Ala424_Ala425insThrGluGlyAlaGlyAlaValGluAsnPheAla) c.1843_1875dup (p.Ala625_Ala626insThrGluGlyAlaGlyAlaValGluAsnPheAla) c.420_452dup c.1297_1329dup (p.Ala443_Ala444insThrGluGlyAlaGlyAlaValGluAsnPheAla) c.1258_1290dup (p.Ala430_Ala431insThrGluGlyAlaGlyAlaValGluAsnPheAla) c.1561_1593dup (p.Ala531_Ala532insThrGluGlyAlaGlyAlaValGluAsnPheAla) c.1408_1440dup (p.Ala480_Ala481insThrGluGlyAlaGlyAlaValGluAsnPheAla) | gnomAD v4 |
8 | g.143728195G>A | CA463519717 | FAM83H | c.1266C>T (p.Asn422=) c.1869C>T (p.Asn623=) c.446C>T c.1323C>T (p.Asn441=) c.1284C>T (p.Asn428=) c.1587C>T (p.Asn529=) c.1434C>T (p.Asn478=) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.143728195G>C | CA372467797 | FAM83H | c.1266C>G (p.Asn422Lys) c.1869C>G (p.Asn623Lys) c.446C>G c.1323C>G (p.Asn441Lys) c.1284C>G (p.Asn428Lys) c.1587C>G (p.Asn529Lys) c.1434C>G (p.Asn478Lys) | |
8 | g.143728195G= | CA1825940614 | FAM83H | c.1266C= (p.Asn422=) c.1869C= (p.Asn623=) c.446C= c.1323C= (p.Asn441=) c.1284C= (p.Asn428=) c.1587C= (p.Asn529=) c.1434C= (p.Asn478=) | |
8 | g.143728195G>T | CA372467799 | FAM83H | c.1266C>A (p.Asn422Lys) c.1869C>A (p.Asn623Lys) c.446C>A c.1323C>A (p.Asn441Lys) c.1284C>A (p.Asn428Lys) c.1587C>A (p.Asn529Lys) c.1434C>A (p.Asn478Lys) | gnomAD v4 |
8 | g.143728196T>A | CA372467801 | FAM83H | c.1265A>T (p.Asn422Ile) c.1868A>T (p.Asn623Ile) c.445A>T c.1322A>T (p.Asn441Ile) c.1283A>T (p.Asn428Ile) c.1586A>T (p.Asn529Ile) c.1433A>T (p.Asn478Ile) | |
8 | g.143728196T>C | CA4917494 | FAM83H | c.1265A>G (p.Asn422Ser) c.1868A>G (p.Asn623Ser) c.445A>G c.1322A>G (p.Asn441Ser) c.1283A>G (p.Asn428Ser) c.1586A>G (p.Asn529Ser) c.1433A>G (p.Asn478Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.143728196T>G | CA372467803 | FAM83H | c.1265A>C (p.Asn422Thr) c.1868A>C (p.Asn623Thr) c.445A>C c.1322A>C (p.Asn441Thr) c.1283A>C (p.Asn428Thr) c.1586A>C (p.Asn529Thr) c.1433A>C (p.Asn478Thr) | |
8 | g.143728196T= | CA1825940615 | FAM83H | c.1265A= (p.Asn422=) c.1868A= (p.Asn623=) c.445A= c.1322A= (p.Asn441=) c.1283A= (p.Asn428=) c.1586A= (p.Asn529=) c.1433A= (p.Asn478=) | |
8 | g.143728197T>A | CA372467806 | FAM83H | c.1264A>T (p.Asn422Tyr) c.1867A>T (p.Asn623Tyr) c.444A>T c.1321A>T (p.Asn441Tyr) c.1282A>T (p.Asn428Tyr) c.1585A>T (p.Asn529Tyr) c.1432A>T (p.Asn478Tyr) | |
8 | g.143728197T>C | CA372467808 | FAM83H | c.1264A>G (p.Asn422Asp) c.1867A>G (p.Asn623Asp) c.444A>G c.1321A>G (p.Asn441Asp) c.1282A>G (p.Asn428Asp) c.1585A>G (p.Asn529Asp) c.1432A>G (p.Asn478Asp) | |
8 | g.143728197T>G | CA372467810 | FAM83H | c.1264A>C (p.Asn422His) c.1867A>C (p.Asn623His) c.444A>C c.1321A>C (p.Asn441His) c.1282A>C (p.Asn428His) c.1585A>C (p.Asn529His) c.1432A>C (p.Asn478His) | |
8 | g.143728198C>A | CA372467813 | FAM83H | c.1263G>T (p.Glu421Asp) c.1866G>T (p.Glu622Asp) c.443G>T c.1320G>T (p.Glu440Asp) c.1281G>T (p.Glu427Asp) c.1584G>T (p.Glu528Asp) c.1431G>T (p.Glu477Asp) | |
8 | g.143728198C>G | CA372467815 | FAM83H | c.1263G>C (p.Glu421Asp) c.1866G>C (p.Glu622Asp) c.443G>C c.1320G>C (p.Glu440Asp) c.1281G>C (p.Glu427Asp) c.1584G>C (p.Glu528Asp) c.1431G>C (p.Glu477Asp) | |
8 | g.143728198C>T | CA463519724 | FAM83H | c.1263G>A (p.Glu421=) c.1866G>A (p.Glu622=) c.443G>A c.1320G>A (p.Glu440=) c.1281G>A (p.Glu427=) c.1584G>A (p.Glu528=) c.1431G>A (p.Glu477=) | |
8 | g.143728199T>A | CA372467816 | FAM83H | c.1262A>T (p.Glu421Val) c.1865A>T (p.Glu622Val) c.442A>T c.1319A>T (p.Glu440Val) c.1280A>T (p.Glu427Val) c.1583A>T (p.Glu528Val) c.1430A>T (p.Glu477Val) | |
8 | g.143728199T>C | CA372467818 | FAM83H | c.1262A>G (p.Glu421Gly) c.1865A>G (p.Glu622Gly) c.442A>G c.1319A>G (p.Glu440Gly) c.1280A>G (p.Glu427Gly) c.1583A>G (p.Glu528Gly) c.1430A>G (p.Glu477Gly) | |
8 | g.143728199T>G | CA372467820 | FAM83H | c.1262A>C (p.Glu421Ala) c.1865A>C (p.Glu622Ala) c.442A>C c.1319A>C (p.Glu440Ala) c.1280A>C (p.Glu427Ala) c.1583A>C (p.Glu528Ala) c.1430A>C (p.Glu477Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.143728199T= | CA1825940616 | FAM83H | c.1262A= (p.Glu421=) c.1865A= (p.Glu622=) c.442A= c.1319A= (p.Glu440=) c.1280A= (p.Glu427=) c.1583A= (p.Glu528=) c.1430A= (p.Glu477=) | |
8 | g.143728200C>A | CA372467825 | FAM83H | c.1261G>T (p.Glu421Ter) c.1864G>T (p.Glu622Ter) c.441G>T c.1318G>T (p.Glu440Ter) c.1279G>T (p.Glu427Ter) c.1582G>T (p.Glu528Ter) c.1429G>T (p.Glu477Ter) | gnomAD v4 |
8 | g.143728200C= | CA1825940617 | FAM83H | c.1261G= (p.Glu421=) c.1864G= (p.Glu622=) c.441G= c.1318G= (p.Glu440=) c.1279G= (p.Glu427=) c.1582G= (p.Glu528=) c.1429G= (p.Glu477=) | |
8 | g.143728200C>G | CA372467827 | FAM83H | c.1261G>C (p.Glu421Gln) c.1864G>C (p.Glu622Gln) c.441G>C c.1318G>C (p.Glu440Gln) c.1279G>C (p.Glu427Gln) c.1582G>C (p.Glu528Gln) c.1429G>C (p.Glu477Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.143728200C>T | CA372467823 | FAM83H | c.1261G>A (p.Glu421Lys) c.1864G>A (p.Glu622Lys) c.441G>A c.1318G>A (p.Glu440Lys) c.1279G>A (p.Glu427Lys) c.1582G>A (p.Glu528Lys) c.1429G>A (p.Glu477Lys) | gnomAD v4 |
8 | g.143728201C>A | CA463519742 | FAM83H | c.1260G>T (p.Val420=) c.1863G>T (p.Val621=) c.440G>T c.1317G>T (p.Val439=) c.1278G>T (p.Val426=) c.1581G>T (p.Val527=) c.1428G>T (p.Val476=) | |
8 | g.143728201C>G | CA463519736 | FAM83H | c.1260G>C (p.Val420=) c.1863G>C (p.Val621=) c.440G>C c.1317G>C (p.Val439=) c.1278G>C (p.Val426=) c.1581G>C (p.Val527=) c.1428G>C (p.Val476=) | |
8 | g.143728201C>T | CA463519740 | FAM83H | c.1260G>A (p.Val420=) c.1863G>A (p.Val621=) c.440G>A c.1317G>A (p.Val439=) c.1278G>A (p.Val426=) c.1581G>A (p.Val527=) c.1428G>A (p.Val476=) | gnomAD v4 |
8 | g.143728202A>C | CA372467828 | FAM83H | c.1259T>G (p.Val420Gly) c.1862T>G (p.Val621Gly) c.439T>G c.1316T>G (p.Val439Gly) c.1277T>G (p.Val426Gly) c.1580T>G (p.Val527Gly) c.1427T>G (p.Val476Gly) | |
8 | g.143728202A>G | CA372467831 | FAM83H | c.1259T>C (p.Val420Ala) c.1862T>C (p.Val621Ala) c.439T>C c.1316T>C (p.Val439Ala) c.1277T>C (p.Val426Ala) c.1580T>C (p.Val527Ala) c.1427T>C (p.Val476Ala) | |
8 | g.143728202A>T | CA372467833 | FAM83H | c.1259T>A (p.Val420Glu) c.1862T>A (p.Val621Glu) c.439T>A c.1316T>A (p.Val439Glu) c.1277T>A (p.Val426Glu) c.1580T>A (p.Val527Glu) c.1427T>A (p.Val476Glu) | |
8 | g.143728203C>A | CA372467835 | FAM83H | c.1258G>T (p.Val420Leu) c.1861G>T (p.Val621Leu) c.438G>T c.1315G>T (p.Val439Leu) c.1276G>T (p.Val426Leu) c.1579G>T (p.Val527Leu) c.1426G>T (p.Val476Leu) | |
8 | g.143728203C= | CA1825940618 | FAM83H | c.1258G= (p.Val420=) c.1861G= (p.Val621=) c.438G= c.1315G= (p.Val439=) c.1276G= (p.Val426=) c.1579G= (p.Val527=) c.1426G= (p.Val476=) | |
8 | g.143728203C>G | CA372467838 | FAM83H | c.1258G>C (p.Val420Leu) c.1861G>C (p.Val621Leu) c.438G>C c.1315G>C (p.Val439Leu) c.1276G>C (p.Val426Leu) c.1579G>C (p.Val527Leu) c.1426G>C (p.Val476Leu) | |
8 | g.143728203C>T | CA372467840 | FAM83H | c.1258G>A (p.Val420Met) c.1861G>A (p.Val621Met) c.438G>A c.1315G>A (p.Val439Met) c.1276G>A (p.Val426Met) c.1579G>A (p.Val527Met) c.1426G>A (p.Val476Met) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.143728204G>A | CA4917495 | FAM83H | c.1257C>T (p.Ala419=) c.1860C>T (p.Ala620=) c.437C>T c.1314C>T (p.Ala438=) c.1275C>T (p.Ala425=) c.1578C>T (p.Ala526=) c.1425C>T (p.Ala475=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.143728204G>C | CA463519750 | FAM83H | c.1257C>G (p.Ala419=) c.1860C>G (p.Ala620=) c.437C>G c.1314C>G (p.Ala438=) c.1275C>G (p.Ala425=) c.1578C>G (p.Ala526=) c.1425C>G (p.Ala475=) | gnomAD v4 |
8 | g.143728204G= | CA1825940619 | FAM83H | c.1257C= (p.Ala419=) c.1860C= (p.Ala620=) c.437C= c.1314C= (p.Ala438=) c.1275C= (p.Ala425=) c.1578C= (p.Ala526=) c.1425C= (p.Ala475=) | |
8 | g.143728204G>T | CA4917497 | FAM83H | c.1257C>A (p.Ala419=) c.1860C>A (p.Ala620=) c.437C>A c.1314C>A (p.Ala438=) c.1275C>A (p.Ala425=) c.1578C>A (p.Ala526=) c.1425C>A (p.Ala475=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.143728204_143728210delinsGGCGCCC | CA1825940620 | FAM83H | c.1251_1257delinsGGGCGCC (p.Ala417=) c.1854_1860delinsGGGCGCC (p.Ala618=) c.431_437delinsGGGCGCC c.1308_1314delinsGGGCGCC (p.Ala436=) c.1269_1275delinsGGGCGCC (p.Ala423=) c.1572_1578delinsGGGCGCC (p.Ala524=) c.1419_1425delinsGGGCGCC (p.Ala473=) | |
8 | g.143728205G>A | CA372467845 | FAM83H | c.1256C>T (p.Ala419Val) c.1859C>T (p.Ala620Val) c.436C>T c.1313C>T (p.Ala438Val) c.1274C>T (p.Ala425Val) c.1577C>T (p.Ala526Val) c.1424C>T (p.Ala475Val) | |
8 | g.143728205G>C | CA372467846 | FAM83H | c.1256C>G (p.Ala419Gly) c.1859C>G (p.Ala620Gly) c.436C>G c.1313C>G (p.Ala438Gly) c.1274C>G (p.Ala425Gly) c.1577C>G (p.Ala526Gly) c.1424C>G (p.Ala475Gly) | gnomAD v4 |
8 | g.143728205G>T | CA372467848 | FAM83H | c.1256C>A (p.Ala419Asp) c.1859C>A (p.Ala620Asp) c.436C>A c.1313C>A (p.Ala438Asp) c.1274C>A (p.Ala425Asp) c.1577C>A (p.Ala526Asp) c.1424C>A (p.Ala475Asp) | |
8 | g.143728211_143728216dup | CA848794518 | FAM83H | c.1251_1256dup (p.Ala419_Val420insGlyAla) c.1854_1859dup (p.Ala620_Val621insGlyAla) c.431_436dup c.1308_1313dup (p.Ala438_Val439insGlyAla) c.1269_1274dup (p.Ala425_Val426insGlyAla) c.1572_1577dup (p.Ala526_Val527insGlyAla) c.1419_1424dup (p.Ala475_Val476insGlyAla) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.143728211_143728216del | CA4917496 | FAM83H | c.1251_1256del (p.Gly418_Ala419del) c.1854_1859del (p.Gly619_Ala620del) c.431_436del c.1308_1313del (p.Gly437_Ala438del) c.1269_1274del (p.Gly424_Ala425del) c.1572_1577del (p.Gly525_Ala526del) c.1419_1424del (p.Gly474_Ala475del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.143728214_143728291del | CA1120207102 | FAM83H | c.1179_1256del (p.Arg394_Ala419del) c.1782_1859del (p.Arg595_Ala620del) c.359_436del c.1236_1313del (p.Arg413_Ala438del) c.1197_1274del (p.Arg400_Ala425del) c.1500_1577del (p.Arg501_Ala526del) c.1347_1424del (p.Arg450_Ala475del) | gnomAD v3 gnomAD v4 |
8 | g.143728206C>A | CA4917498 | FAM83H | c.1255G>T (p.Ala419Ser) c.1858G>T (p.Ala620Ser) c.435G>T c.1312G>T (p.Ala438Ser) c.1273G>T (p.Ala425Ser) c.1576G>T (p.Ala526Ser) c.1423G>T (p.Ala475Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.143728206C= | CA1825940621 | FAM83H | c.1255G= (p.Ala419=) c.1858G= (p.Ala620=) c.435G= c.1312G= (p.Ala438=) c.1273G= (p.Ala425=) c.1576G= (p.Ala526=) c.1423G= (p.Ala475=) | |
8 | g.143728206C>G | CA372467850 | FAM83H | c.1255G>C (p.Ala419Pro) c.1858G>C (p.Ala620Pro) c.435G>C c.1312G>C (p.Ala438Pro) c.1273G>C (p.Ala425Pro) c.1576G>C (p.Ala526Pro) c.1423G>C (p.Ala475Pro) | |
8 | g.143728206C>T | CA372467852 | FAM83H | c.1255G>A (p.Ala419Thr) c.1858G>A (p.Ala620Thr) c.435G>A c.1312G>A (p.Ala438Thr) c.1273G>A (p.Ala425Thr) c.1576G>A (p.Ala526Thr) c.1423G>A (p.Ala475Thr) | gnomAD v4 |
8 | g.143728207G>A | CA4917499 | FAM83H | c.1254C>T (p.Gly418=) c.1857C>T (p.Gly619=) c.434C>T c.1311C>T (p.Gly437=) c.1272C>T (p.Gly424=) c.1575C>T (p.Gly525=) c.1422C>T (p.Gly474=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.143728207G>C | CA463519755 | FAM83H | c.1254C>G (p.Gly418=) c.1857C>G (p.Gly619=) c.434C>G c.1311C>G (p.Gly437=) c.1272C>G (p.Gly424=) c.1575C>G (p.Gly525=) c.1422C>G (p.Gly474=) | |
8 | g.143728207G= | CA1825940622 | FAM83H | c.1254C= (p.Gly418=) c.1857C= (p.Gly619=) c.434C= c.1311C= (p.Gly437=) c.1272C= (p.Gly424=) c.1575C= (p.Gly525=) c.1422C= (p.Gly474=) | |
8 | g.143728207G>T | CA463519757 | FAM83H | c.1254C>A (p.Gly418=) c.1857C>A (p.Gly619=) c.434C>A c.1311C>A (p.Gly437=) c.1272C>A (p.Gly424=) c.1575C>A (p.Gly525=) c.1422C>A (p.Gly474=) | gnomAD v4 |
8 | g.143728208C>A | CA372467857 | FAM83H | c.1253G>T (p.Gly418Val) c.1856G>T (p.Gly619Val) c.433G>T c.1310G>T (p.Gly437Val) c.1271G>T (p.Gly424Val) c.1574G>T (p.Gly525Val) c.1421G>T (p.Gly474Val) | |
8 | g.143728208C>G | CA372467859 | FAM83H | c.1253G>C (p.Gly418Ala) c.1856G>C (p.Gly619Ala) c.433G>C c.1310G>C (p.Gly437Ala) c.1271G>C (p.Gly424Ala) c.1574G>C (p.Gly525Ala) c.1421G>C (p.Gly474Ala) | |
8 | g.143728208C>T | CA372467861 | FAM83H | c.1253G>A (p.Gly418Asp) c.1856G>A (p.Gly619Asp) c.433G>A c.1310G>A (p.Gly437Asp) c.1271G>A (p.Gly424Asp) c.1574G>A (p.Gly525Asp) c.1421G>A (p.Gly474Asp) | gnomAD v4 |
8 | g.143728210dup | CA2740991149 | FAM83H | c.1253dup (p.Ala419ArgfsTer?) c.1856dup (p.Ala620ArgfsTer?) c.433dup c.1310dup (p.Ala438ArgfsTer?) c.1271dup (p.Ala425ArgfsTer?) c.1574dup (p.Ala526ArgfsTer?) c.1421dup (p.Ala475ArgfsTer?) | |
8 | g.143728209C>A | CA372467863 | FAM83H | c.1252G>T (p.Gly418Cys) c.1855G>T (p.Gly619Cys) c.432G>T c.1309G>T (p.Gly437Cys) c.1270G>T (p.Gly424Cys) c.1573G>T (p.Gly525Cys) c.1420G>T (p.Gly474Cys) | |
8 | g.143728209C= | CA1825940623 | FAM83H | c.1252G= (p.Gly418=) c.1855G= (p.Gly619=) c.432G= c.1309G= (p.Gly437=) c.1270G= (p.Gly424=) c.1573G= (p.Gly525=) c.1420G= (p.Gly474=) | |
8 | g.143728209C>G | CA372467864 | FAM83H | c.1252G>C (p.Gly418Arg) c.1855G>C (p.Gly619Arg) c.432G>C c.1309G>C (p.Gly437Arg) c.1270G>C (p.Gly424Arg) c.1573G>C (p.Gly525Arg) c.1420G>C (p.Gly474Arg) | |
8 | g.143728209C>T | CA372467865 | FAM83H | c.1252G>A (p.Gly418Ser) c.1855G>A (p.Gly619Ser) c.432G>A c.1309G>A (p.Gly437Ser) c.1270G>A (p.Gly424Ser) c.1573G>A (p.Gly525Ser) c.1420G>A (p.Gly474Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.143728211_143728249del | CA2718601135 | FAM83H | c.1214_1252del (p.Asp405_Ala417del) c.1817_1855del (p.Asp606_Ala618del) c.394_432del c.1271_1309del (p.Asp424_Ala436del) c.1232_1270del (p.Asp411_Ala423del) c.1535_1573del (p.Asp512_Ala524del) c.1382_1420del (p.Asp461_Ala473del) | dbSNP |
8 | g.143728210C>A | CA463519772 | FAM83H | c.1251G>T (p.Ala417=) c.1854G>T (p.Ala618=) c.431G>T c.1308G>T (p.Ala436=) c.1269G>T (p.Ala423=) c.1572G>T (p.Ala524=) c.1419G>T (p.Ala473=) | |
8 | g.143728210C= | CA1825940624 | FAM83H | c.1251G= (p.Ala417=) c.1854G= (p.Ala618=) c.431G= c.1308G= (p.Ala436=) c.1269G= (p.Ala423=) c.1572G= (p.Ala524=) c.1419G= (p.Ala473=) | |
8 | g.143728210C>G | CA463519773 | FAM83H | c.1251G>C (p.Ala417=) c.1854G>C (p.Ala618=) c.431G>C c.1308G>C (p.Ala436=) c.1269G>C (p.Ala423=) c.1572G>C (p.Ala524=) c.1419G>C (p.Ala473=) | dbSNP |
8 | g.143728210C>T | CA463519769 | FAM83H | c.1251G>A (p.Ala417=) c.1854G>A (p.Ala618=) c.431G>A c.1308G>A (p.Ala436=) c.1269G>A (p.Ala423=) c.1572G>A (p.Ala524=) c.1419G>A (p.Ala473=) | gnomAD v4 |
8 | g.143728211G>A | CA372467866 | FAM83H | c.1250C>T (p.Ala417Val) c.1853C>T (p.Ala618Val) c.430C>T c.1307C>T (p.Ala436Val) c.1268C>T (p.Ala423Val) c.1571C>T (p.Ala524Val) c.1418C>T (p.Ala473Val) | gnomAD v4 |
8 | g.143728211G>C | CA372467868 | FAM83H | c.1250C>G (p.Ala417Gly) c.1853C>G (p.Ala618Gly) c.430C>G c.1307C>G (p.Ala436Gly) c.1268C>G (p.Ala423Gly) c.1571C>G (p.Ala524Gly) c.1418C>G (p.Ala473Gly) | |
8 | g.143728211G>T | CA372467870 | FAM83H | c.1250C>A (p.Ala417Glu) c.1853C>A (p.Ala618Glu) c.430C>A c.1307C>A (p.Ala436Glu) c.1268C>A (p.Ala423Glu) c.1571C>A (p.Ala524Glu) c.1418C>A (p.Ala473Glu) | gnomAD v4 |
8 | g.143728212C>A | CA372467873 | FAM83H | c.1249G>T (p.Ala417Ser) c.1852G>T (p.Ala618Ser) c.429G>T c.1306G>T (p.Ala436Ser) c.1267G>T (p.Ala423Ser) c.1570G>T (p.Ala524Ser) c.1417G>T (p.Ala473Ser) | |
8 | g.143728212C= | CA1825940625 | FAM83H | c.1249G= (p.Ala417=) c.1852G= (p.Ala618=) c.429G= c.1306G= (p.Ala436=) c.1267G= (p.Ala423=) c.1570G= (p.Ala524=) c.1417G= (p.Ala473=) | |
8 | g.143728212C>G | CA372467876 | FAM83H | c.1249G>C (p.Ala417Pro) c.1852G>C (p.Ala618Pro) c.429G>C c.1306G>C (p.Ala436Pro) c.1267G>C (p.Ala423Pro) c.1570G>C (p.Ala524Pro) c.1417G>C (p.Ala473Pro) | |
8 | g.143728212C>T | CA4917500 | FAM83H | c.1249G>A (p.Ala417Thr) c.1852G>A (p.Ala618Thr) c.429G>A c.1306G>A (p.Ala436Thr) c.1267G>A (p.Ala423Thr) c.1570G>A (p.Ala524Thr) c.1417G>A (p.Ala473Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.143728213G>A | CA463519783 | FAM83H | c.1248C>T (p.Gly416=) c.1851C>T (p.Gly617=) c.428C>T c.1305C>T (p.Gly435=) c.1266C>T (p.Gly422=) c.1569C>T (p.Gly523=) c.1416C>T (p.Gly472=) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.143728213G>C | CA463519782 | FAM83H | c.1248C>G (p.Gly416=) c.1851C>G (p.Gly617=) c.428C>G c.1305C>G (p.Gly435=) c.1266C>G (p.Gly422=) c.1569C>G (p.Gly523=) c.1416C>G (p.Gly472=) | |
8 | g.143728213G= | CA1825940626 | FAM83H | c.1248C= (p.Gly416=) c.1851C= (p.Gly617=) c.428C= c.1305C= (p.Gly435=) c.1266C= (p.Gly422=) c.1569C= (p.Gly523=) c.1416C= (p.Gly472=) | |
8 | g.143728213G>T | CA463519785 | FAM83H | c.1248C>A (p.Gly416=) c.1851C>A (p.Gly617=) c.428C>A c.1305C>A (p.Gly435=) c.1266C>A (p.Gly422=) c.1569C>A (p.Gly523=) c.1416C>A (p.Gly472=) | gnomAD v4 |
8 | g.143728214C>A | CA372467888 | FAM83H | c.1247G>T (p.Gly416Val) c.1850G>T (p.Gly617Val) c.427G>T c.1304G>T (p.Gly435Val) c.1265G>T (p.Gly422Val) c.1568G>T (p.Gly523Val) c.1415G>T (p.Gly472Val) | |
8 | g.143728214C>G | CA372467886 | FAM83H | c.1247G>C (p.Gly416Ala) c.1850G>C (p.Gly617Ala) c.427G>C c.1304G>C (p.Gly435Ala) c.1265G>C (p.Gly422Ala) c.1568G>C (p.Gly523Ala) c.1415G>C (p.Gly472Ala) | |
8 | g.143728214C>T | CA372467883 | FAM83H | c.1247G>A (p.Gly416Asp) c.1850G>A (p.Gly617Asp) c.427G>A c.1304G>A (p.Gly435Asp) c.1265G>A (p.Gly422Asp) c.1568G>A (p.Gly523Asp) c.1415G>A (p.Gly472Asp) | gnomAD v4 |
8 | g.143728215C>A | CA372467892 | FAM83H | c.1246G>T (p.Gly416Cys) c.1849G>T (p.Gly617Cys) c.426G>T c.1303G>T (p.Gly435Cys) c.1264G>T (p.Gly422Cys) c.1567G>T (p.Gly523Cys) c.1414G>T (p.Gly472Cys) | |
8 | g.143728215C= | CA1825940627 | FAM83H | c.1246G= (p.Gly416=) c.1849G= (p.Gly617=) c.426G= c.1303G= (p.Gly435=) c.1264G= (p.Gly422=) c.1567G= (p.Gly523=) c.1414G= (p.Gly472=) | |
8 | g.143728215C>G | CA372467894 | FAM83H | c.1246G>C (p.Gly416Arg) c.1849G>C (p.Gly617Arg) c.426G>C c.1303G>C (p.Gly435Arg) c.1264G>C (p.Gly422Arg) c.1567G>C (p.Gly523Arg) c.1414G>C (p.Gly472Arg) | |
8 | g.143728215C>T | CA4917501 | FAM83H | c.1246G>A (p.Gly416Ser) c.1849G>A (p.Gly617Ser) c.426G>A c.1303G>A (p.Gly435Ser) c.1264G>A (p.Gly422Ser) c.1567G>A (p.Gly523Ser) c.1414G>A (p.Gly472Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.143728216C>A | CA372467895 | FAM83H | c.1245G>T (p.Glu415Asp) c.1848G>T (p.Glu616Asp) c.425G>T c.1302G>T (p.Glu434Asp) c.1263G>T (p.Glu421Asp) c.1566G>T (p.Glu522Asp) c.1413G>T (p.Glu471Asp) | gnomAD v4 |
8 | g.143728216C= | CA1825940628 | FAM83H | c.1245G= (p.Glu415=) c.1848G= (p.Glu616=) c.425G= c.1302G= (p.Glu434=) c.1263G= (p.Glu421=) c.1566G= (p.Glu522=) c.1413G= (p.Glu471=) | |
8 | g.143728216C>G | CA372467896 | FAM83H | c.1245G>C (p.Glu415Asp) c.1848G>C (p.Glu616Asp) c.425G>C c.1302G>C (p.Glu434Asp) c.1263G>C (p.Glu421Asp) c.1566G>C (p.Glu522Asp) c.1413G>C (p.Glu471Asp) | dbSNP |
8 | g.143728216C>T | CA463519795 | FAM83H | c.1245G>A (p.Glu415=) c.1848G>A (p.Glu616=) c.425G>A c.1302G>A (p.Glu434=) c.1263G>A (p.Glu421=) c.1566G>A (p.Glu522=) c.1413G>A (p.Glu471=) | |
8 | g.143728217T>A | CA372467897 | FAM83H | c.1244A>T (p.Glu415Val) c.1847A>T (p.Glu616Val) c.424A>T c.1301A>T (p.Glu434Val) c.1262A>T (p.Glu421Val) c.1565A>T (p.Glu522Val) c.1412A>T (p.Glu471Val) | |
8 | g.143728217T>C | CA372467898 | FAM83H | c.1244A>G (p.Glu415Gly) c.1847A>G (p.Glu616Gly) c.424A>G c.1301A>G (p.Glu434Gly) c.1262A>G (p.Glu421Gly) c.1565A>G (p.Glu522Gly) c.1412A>G (p.Glu471Gly) | |
8 | g.143728217T>G | CA372467899 | FAM83H | c.1244A>C (p.Glu415Ala) c.1847A>C (p.Glu616Ala) c.424A>C c.1301A>C (p.Glu434Ala) c.1262A>C (p.Glu421Ala) c.1565A>C (p.Glu522Ala) c.1412A>C (p.Glu471Ala) | |
8 | g.143728218C>A | CA114495 | FAM83H | c.1243G>T (p.Glu415Ter) c.1846G>T (p.Glu616Ter) c.423G>T c.1300G>T (p.Glu434Ter) c.1261G>T (p.Glu421Ter) c.1564G>T (p.Glu522Ter) c.1411G>T (p.Glu471Ter) | ClinVar dbSNP |
8 | g.143728218C= | CA1825940629 | FAM83H | c.1243G= (p.Glu415=) c.1846G= (p.Glu616=) c.423G= c.1300G= (p.Glu434=) c.1261G= (p.Glu421=) c.1564G= (p.Glu522=) c.1411G= (p.Glu471=) | |
8 | g.143728218C>G | CA372467903 | FAM83H | c.1243G>C (p.Glu415Gln) c.1846G>C (p.Glu616Gln) c.423G>C c.1300G>C (p.Glu434Gln) c.1261G>C (p.Glu421Gln) c.1564G>C (p.Glu522Gln) c.1411G>C (p.Glu471Gln) | |
8 | g.143728218C>T | CA4917502 | FAM83H | c.1243G>A (p.Glu415Lys) c.1846G>A (p.Glu616Lys) c.423G>A c.1300G>A (p.Glu434Lys) c.1261G>A (p.Glu421Lys) c.1564G>A (p.Glu522Lys) c.1411G>A (p.Glu471Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.143728219G>A | CA463519803 | FAM83H | c.1242C>T (p.Thr414=) c.1845C>T (p.Thr615=) c.422C>T c.1299C>T (p.Thr433=) c.1260C>T (p.Thr420=) c.1563C>T (p.Thr521=) c.1410C>T (p.Thr470=) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.143728219G>C | CA463519804 | FAM83H | c.1242C>G (p.Thr414=) c.1845C>G (p.Thr615=) c.422C>G c.1299C>G (p.Thr433=) c.1260C>G (p.Thr420=) c.1563C>G (p.Thr521=) c.1410C>G (p.Thr470=) | dbSNP |
8 | g.143728219G= | CA1825940630 | FAM83H | c.1242C= (p.Thr414=) c.1845C= (p.Thr615=) c.422C= c.1299C= (p.Thr433=) c.1260C= (p.Thr420=) c.1563C= (p.Thr521=) c.1410C= (p.Thr470=) | |
8 | g.143728219G>T | CA463519805 | FAM83H | c.1242C>A (p.Thr414=) c.1845C>A (p.Thr615=) c.422C>A c.1299C>A (p.Thr433=) c.1260C>A (p.Thr420=) c.1563C>A (p.Thr521=) c.1410C>A (p.Thr470=) | gnomAD v4 |
8 | g.143728220G>A | CA372467904 | FAM83H | c.1241C>T (p.Thr414Ile) c.1844C>T (p.Thr615Ile) c.421C>T c.1298C>T (p.Thr433Ile) c.1259C>T (p.Thr420Ile) c.1562C>T (p.Thr521Ile) c.1409C>T (p.Thr470Ile) | gnomAD v4 |
8 | g.143728220G>C | CA372467907 | FAM83H | c.1241C>G (p.Thr414Ser) c.1844C>G (p.Thr615Ser) c.421C>G c.1298C>G (p.Thr433Ser) c.1259C>G (p.Thr420Ser) c.1562C>G (p.Thr521Ser) c.1409C>G (p.Thr470Ser) | gnomAD v4 |
8 | g.143728220G>T | CA372467910 | FAM83H | c.1241C>A (p.Thr414Asn) c.1844C>A (p.Thr615Asn) c.421C>A c.1298C>A (p.Thr433Asn) c.1259C>A (p.Thr420Asn) c.1562C>A (p.Thr521Asn) c.1409C>A (p.Thr470Asn) | gnomAD v4 |
8 | g.143728220_143728221insCCG | CA2564990654 | FAM83H | c.1241_1242insGGC (p.Thr414_Glu415insAla) c.1844_1845insGGC (p.Thr615_Glu616insAla) c.421_422insGGC c.1298_1299insGGC (p.Thr433_Glu434insAla) c.1259_1260insGGC (p.Thr420_Glu421insAla) c.1562_1563insGGC (p.Thr521_Glu522insAla) c.1409_1410insGGC (p.Thr470_Glu471insAla) | |
8 | g.143728221del | CA2688980726 | FAM83H | c.1240del (p.Thr414ProfsTer?) c.1843del (p.Thr615ProfsTer?) c.420del c.1297del (p.Thr433ProfsTer?) c.1258del (p.Thr420ProfsTer?) c.1561del (p.Thr521ProfsTer?) c.1408del (p.Thr470ProfsTer?) | gnomAD v4 |
8 | g.143728221T>A | CA372467915 | FAM83H | c.1240A>T (p.Thr414Ser) c.1843A>T (p.Thr615Ser) c.420A>T c.1297A>T (p.Thr433Ser) c.1258A>T (p.Thr420Ser) c.1561A>T (p.Thr521Ser) c.1408A>T (p.Thr470Ser) | |
8 | g.143728221T>C | CA372467913 | FAM83H | c.1240A>G (p.Thr414Ala) c.1843A>G (p.Thr615Ala) c.420A>G c.1297A>G (p.Thr433Ala) c.1258A>G (p.Thr420Ala) c.1561A>G (p.Thr521Ala) c.1408A>G (p.Thr470Ala) | |
8 | g.143728221T>G | CA372467912 | FAM83H | c.1240A>C (p.Thr414Pro) c.1843A>C (p.Thr615Pro) c.420A>C c.1297A>C (p.Thr433Pro) c.1258A>C (p.Thr420Pro) c.1561A>C (p.Thr521Pro) c.1408A>C (p.Thr470Pro) | |
8 | g.143728222C>A | CA463519813 | FAM83H | c.1239G>T (p.Ala413=) c.1842G>T (p.Ala614=) c.419G>T c.1296G>T (p.Ala432=) c.1257G>T (p.Ala419=) c.1560G>T (p.Ala520=) c.1407G>T (p.Ala469=) | gnomAD v4 |
8 | g.143728222C= | CA1825940631 | FAM83H | c.1239G= (p.Ala413=) c.1842G= (p.Ala614=) c.419G= c.1296G= (p.Ala432=) c.1257G= (p.Ala419=) c.1560G= (p.Ala520=) c.1407G= (p.Ala469=) | |
8 | g.143728222C>G | CA463519814 | FAM83H | c.1239G>C (p.Ala413=) c.1842G>C (p.Ala614=) c.419G>C c.1296G>C (p.Ala432=) c.1257G>C (p.Ala419=) c.1560G>C (p.Ala520=) c.1407G>C (p.Ala469=) | |
8 | g.143728222C>T | CA4917503 | FAM83H | c.1239G>A (p.Ala413=) c.1842G>A (p.Ala614=) c.419G>A c.1296G>A (p.Ala432=) c.1257G>A (p.Ala419=) c.1560G>A (p.Ala520=) c.1407G>A (p.Ala469=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.143728223G>A | CA372467918 | FAM83H | c.1238C>T (p.Ala413Val) c.1841C>T (p.Ala614Val) c.418C>T c.1295C>T (p.Ala432Val) c.1256C>T (p.Ala419Val) c.1559C>T (p.Ala520Val) c.1406C>T (p.Ala469Val) | gnomAD v4 |
8 | g.143728223G>C | CA372467920 | FAM83H | c.1238C>G (p.Ala413Gly) c.1841C>G (p.Ala614Gly) c.418C>G c.1295C>G (p.Ala432Gly) c.1256C>G (p.Ala419Gly) c.1559C>G (p.Ala520Gly) c.1406C>G (p.Ala469Gly) | |
8 | g.143728223G>T | CA372467922 | FAM83H | c.1238C>A (p.Ala413Glu) c.1841C>A (p.Ala614Glu) c.418C>A c.1295C>A (p.Ala432Glu) c.1256C>A (p.Ala419Glu) c.1559C>A (p.Ala520Glu) c.1406C>A (p.Ala469Glu) | gnomAD v4 |
8 | g.143728224C>A | CA372467931 | FAM83H | c.1237G>T (p.Ala413Ser) c.1840G>T (p.Ala614Ser) c.417G>T c.1294G>T (p.Ala432Ser) c.1255G>T (p.Ala419Ser) c.1558G>T (p.Ala520Ser) c.1405G>T (p.Ala469Ser) | |
8 | g.143728224C= | CA1825940632 | FAM83H | c.1237G= (p.Ala413=) c.1840G= (p.Ala614=) c.417G= c.1294G= (p.Ala432=) c.1255G= (p.Ala419=) c.1558G= (p.Ala520=) c.1405G= (p.Ala469=) | |
8 | g.143728224C>G | CA372467933 | FAM83H | c.1237G>C (p.Ala413Pro) c.1840G>C (p.Ala614Pro) c.417G>C c.1294G>C (p.Ala432Pro) c.1255G>C (p.Ala419Pro) c.1558G>C (p.Ala520Pro) c.1405G>C (p.Ala469Pro) | gnomAD v4 |
8 | g.143728224C>T | CA372467934 | FAM83H | c.1237G>A (p.Ala413Thr) c.1840G>A (p.Ala614Thr) c.417G>A c.1294G>A (p.Ala432Thr) c.1255G>A (p.Ala419Thr) c.1558G>A (p.Ala520Thr) c.1405G>A (p.Ala469Thr) | dbSNP gnomAD v4 |
8 | g.143728225G>A | CA463519818 | FAM83H | c.1236C>T (p.Phe412=) c.1839C>T (p.Phe613=) c.416C>T c.1293C>T (p.Phe431=) c.1254C>T (p.Phe418=) c.1557C>T (p.Phe519=) c.1404C>T (p.Phe468=) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.143728225G>C | CA372467938 | FAM83H | c.1236C>G (p.Phe412Leu) c.1839C>G (p.Phe613Leu) c.416C>G c.1293C>G (p.Phe431Leu) c.1254C>G (p.Phe418Leu) c.1557C>G (p.Phe519Leu) c.1404C>G (p.Phe468Leu) | |
8 | g.143728225G= | CA1825940633 | FAM83H | c.1236C= (p.Phe412=) c.1839C= (p.Phe613=) c.416C= c.1293C= (p.Phe431=) c.1254C= (p.Phe418=) c.1557C= (p.Phe519=) c.1404C= (p.Phe468=) | |
8 | g.143728225G>T | CA372467939 | FAM83H | c.1236C>A (p.Phe412Leu) c.1839C>A (p.Phe613Leu) c.416C>A c.1293C>A (p.Phe431Leu) c.1254C>A (p.Phe418Leu) c.1557C>A (p.Phe519Leu) c.1404C>A (p.Phe468Leu) | gnomAD v4 |
8 | g.143728226A>C | CA372467941 | FAM83H | c.1235T>G (p.Phe412Cys) c.1838T>G (p.Phe613Cys) c.415T>G c.1292T>G (p.Phe431Cys) c.1253T>G (p.Phe418Cys) c.1556T>G (p.Phe519Cys) c.1403T>G (p.Phe468Cys) | |
8 | g.143728226A>G | CA372467943 | FAM83H | c.1235T>C (p.Phe412Ser) c.1838T>C (p.Phe613Ser) c.415T>C c.1292T>C (p.Phe431Ser) c.1253T>C (p.Phe418Ser) c.1556T>C (p.Phe519Ser) c.1403T>C (p.Phe468Ser) | |
8 | g.143728226A>T | CA372467947 | FAM83H | c.1235T>A (p.Phe412Tyr) c.1838T>A (p.Phe613Tyr) c.415T>A c.1292T>A (p.Phe431Tyr) c.1253T>A (p.Phe418Tyr) c.1556T>A (p.Phe519Tyr) c.1403T>A (p.Phe468Tyr) | |
8 | g.143728227A>C | CA372467954 | FAM83H | c.1234T>G (p.Phe412Val) c.1837T>G (p.Phe613Val) c.414T>G c.1291T>G (p.Phe431Val) c.1252T>G (p.Phe418Val) c.1555T>G (p.Phe519Val) c.1402T>G (p.Phe468Val) | |
8 | g.143728227A>G | CA372467952 | FAM83H | c.1234T>C (p.Phe412Leu) c.1837T>C (p.Phe613Leu) c.414T>C c.1291T>C (p.Phe431Leu) c.1252T>C (p.Phe418Leu) c.1555T>C (p.Phe519Leu) c.1402T>C (p.Phe468Leu) | dbSNP gnomAD v4 |
8 | g.143728227A>T | CA372467950 | FAM83H | c.1234T>A (p.Phe412Ile) c.1837T>A (p.Phe613Ile) c.414T>A c.1291T>A (p.Phe431Ile) c.1252T>A (p.Phe418Ile) c.1555T>A (p.Phe519Ile) c.1402T>A (p.Phe468Ile) | |
8 | g.143728228G>A | CA463519827 | FAM83H | c.1233C>T (p.Ser411=) c.1836C>T (p.Ser612=) c.413C>T c.1290C>T (p.Ser430=) c.1251C>T (p.Ser417=) c.1554C>T (p.Ser518=) c.1401C>T (p.Ser467=) | dbSNP |
8 | g.143728228G>C | CA372467957 | FAM83H | c.1233C>G (p.Ser411Arg) c.1836C>G (p.Ser612Arg) c.413C>G c.1290C>G (p.Ser430Arg) c.1251C>G (p.Ser417Arg) c.1554C>G (p.Ser518Arg) c.1401C>G (p.Ser467Arg) | |
8 | g.143728228G>T | CA372467960 | FAM83H | c.1233C>A (p.Ser411Arg) c.1836C>A (p.Ser612Arg) c.413C>A c.1290C>A (p.Ser430Arg) c.1251C>A (p.Ser417Arg) c.1554C>A (p.Ser518Arg) c.1401C>A (p.Ser467Arg) | gnomAD v4 |
8 | g.143728229C>A | CA372467964 | FAM83H | c.1232G>T (p.Ser411Ile) c.1835G>T (p.Ser612Ile) c.412G>T c.1289G>T (p.Ser430Ile) c.1250G>T (p.Ser417Ile) c.1553G>T (p.Ser518Ile) c.1400G>T (p.Ser467Ile) | |
8 | g.143728229C>G | CA372467966 | FAM83H | c.1232G>C (p.Ser411Thr) c.1835G>C (p.Ser612Thr) c.412G>C c.1289G>C (p.Ser430Thr) c.1250G>C (p.Ser417Thr) c.1553G>C (p.Ser518Thr) c.1400G>C (p.Ser467Thr) | |
8 | g.143728229C>T | CA372467967 | FAM83H | c.1232G>A (p.Ser411Asn) c.1835G>A (p.Ser612Asn) c.412G>A c.1289G>A (p.Ser430Asn) c.1250G>A (p.Ser417Asn) c.1553G>A (p.Ser518Asn) c.1400G>A (p.Ser467Asn) | gnomAD v4 |
8 | g.143728230T>A | CA372467970 | FAM83H | c.1231A>T (p.Ser411Cys) c.1834A>T (p.Ser612Cys) c.411A>T c.1288A>T (p.Ser430Cys) c.1249A>T (p.Ser417Cys) c.1552A>T (p.Ser518Cys) c.1399A>T (p.Ser467Cys) | |
8 | g.143728230T>C | CA372467971 | FAM83H | c.1231A>G (p.Ser411Gly) c.1834A>G (p.Ser612Gly) c.411A>G c.1288A>G (p.Ser430Gly) c.1249A>G (p.Ser417Gly) c.1552A>G (p.Ser518Gly) c.1399A>G (p.Ser467Gly) | gnomAD v4 |
8 | g.143728230T>G | CA372467972 | FAM83H | c.1231A>C (p.Ser411Arg) c.1834A>C (p.Ser612Arg) c.411A>C c.1288A>C (p.Ser430Arg) c.1249A>C (p.Ser417Arg) c.1552A>C (p.Ser518Arg) c.1399A>C (p.Ser467Arg) | |
8 | g.143728231G>A | CA463519833 | FAM83H | c.1230C>T (p.His410=) c.1833C>T (p.His611=) c.410C>T c.1287C>T (p.His429=) c.1248C>T (p.His416=) c.1551C>T (p.His517=) c.1398C>T (p.His466=) | gnomAD v4 |
8 | g.143728231G>C | CA372467974 | FAM83H | c.1230C>G (p.His410Gln) c.1833C>G (p.His611Gln) c.410C>G c.1287C>G (p.His429Gln) c.1248C>G (p.His416Gln) c.1551C>G (p.His517Gln) c.1398C>G (p.His466Gln) | |
8 | g.143728231G>T | CA372467976 | FAM83H | c.1230C>A (p.His410Gln) c.1833C>A (p.His611Gln) c.410C>A c.1287C>A (p.His429Gln) c.1248C>A (p.His416Gln) c.1551C>A (p.His517Gln) c.1398C>A (p.His466Gln) | |
8 | g.143728232T>A | CA372467979 | FAM83H | c.1229A>T (p.His410Leu) c.1832A>T (p.His611Leu) c.409A>T c.1286A>T (p.His429Leu) c.1247A>T (p.His416Leu) c.1550A>T (p.His517Leu) c.1397A>T (p.His466Leu) | |
8 | g.143728232T>C | CA372467985 | FAM83H | c.1229A>G (p.His410Arg) c.1832A>G (p.His611Arg) c.409A>G c.1286A>G (p.His429Arg) c.1247A>G (p.His416Arg) c.1550A>G (p.His517Arg) c.1397A>G (p.His466Arg) | |
8 | g.143728232T>G | CA372467988 | FAM83H | c.1229A>C (p.His410Pro) c.1832A>C (p.His611Pro) c.409A>C c.1286A>C (p.His429Pro) c.1247A>C (p.His416Pro) c.1550A>C (p.His517Pro) c.1397A>C (p.His466Pro) | gnomAD v4 |
8 | g.143728233G>A | CA4917504 | FAM83H | c.1228C>T (p.His410Tyr) c.1831C>T (p.His611Tyr) c.408C>T c.1285C>T (p.His429Tyr) c.1246C>T (p.His416Tyr) c.1549C>T (p.His517Tyr) c.1396C>T (p.His466Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.143728233G>C | CA372467990 | FAM83H | c.1228C>G (p.His410Asp) c.1831C>G (p.His611Asp) c.408C>G c.1285C>G (p.His429Asp) c.1246C>G (p.His416Asp) c.1549C>G (p.His517Asp) c.1396C>G (p.His466Asp) | |
8 | g.143728233G= | CA1825940634 | FAM83H | c.1228C= (p.His410=) c.1831C= (p.His611=) c.408C= c.1285C= (p.His429=) c.1246C= (p.His416=) c.1549C= (p.His517=) c.1396C= (p.His466=) | |
8 | g.143728233G>T | CA4917505 | FAM83H | c.1228C>A (p.His410Asn) c.1831C>A (p.His611Asn) c.408C>A c.1285C>A (p.His429Asn) c.1246C>A (p.His416Asn) c.1549C>A (p.His517Asn) c.1396C>A (p.His466Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.143728234C>A | CA463519839 | FAM83H | c.1227G>T (p.Arg409=) c.1830G>T (p.Arg610=) c.407G>T c.1284G>T (p.Arg428=) c.1245G>T (p.Arg415=) c.1548G>T (p.Arg516=) c.1395G>T (p.Arg465=) | |
8 | g.143728234C= | CA1825940635 | FAM83H | c.1227G= (p.Arg409=) c.1830G= (p.Arg610=) c.407G= c.1284G= (p.Arg428=) c.1245G= (p.Arg415=) c.1548G= (p.Arg516=) c.1395G= (p.Arg465=) | |
8 | g.143728234C>G | CA463519841 | FAM83H | c.1227G>C (p.Arg409=) c.1830G>C (p.Arg610=) c.407G>C c.1284G>C (p.Arg428=) c.1245G>C (p.Arg415=) c.1548G>C (p.Arg516=) c.1395G>C (p.Arg465=) | |
8 | g.143728234C>T | CA187605428 | FAM83H | c.1227G>A (p.Arg409=) c.1830G>A (p.Arg610=) c.407G>A c.1284G>A (p.Arg428=) c.1245G>A (p.Arg415=) c.1548G>A (p.Arg516=) c.1395G>A (p.Arg465=) | dbSNP gnomAD v4 |
8 | g.143728235C>A | CA372467999 | FAM83H | c.1226G>T (p.Arg409Leu) c.1829G>T (p.Arg610Leu) c.406G>T c.1283G>T (p.Arg428Leu) c.1244G>T (p.Arg415Leu) c.1547G>T (p.Arg516Leu) c.1394G>T (p.Arg465Leu) | gnomAD v4 |
8 | g.143728235C= | CA1825940636 | FAM83H | c.1226G= (p.Arg409=) c.1829G= (p.Arg610=) c.406G= c.1283G= (p.Arg428=) c.1244G= (p.Arg415=) c.1547G= (p.Arg516=) c.1394G= (p.Arg465=) | |
8 | g.143728235C>G | CA372468001 | FAM83H | c.1226G>C (p.Arg409Pro) c.1829G>C (p.Arg610Pro) c.406G>C c.1283G>C (p.Arg428Pro) c.1244G>C (p.Arg415Pro) c.1547G>C (p.Arg516Pro) c.1394G>C (p.Arg465Pro) | gnomAD v4 |
8 | g.143728235C>T | CA372468003 | FAM83H | c.1226G>A (p.Arg409Gln) c.1829G>A (p.Arg610Gln) c.406G>A c.1283G>A (p.Arg428Gln) c.1244G>A (p.Arg415Gln) c.1547G>A (p.Arg516Gln) c.1394G>A (p.Arg465Gln) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.143728236G>A | CA4917506 | FAM83H | c.1225C>T (p.Arg409Trp) c.1828C>T (p.Arg610Trp) c.405C>T c.1282C>T (p.Arg428Trp) c.1243C>T (p.Arg415Trp) c.1546C>T (p.Arg516Trp) c.1393C>T (p.Arg465Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.143728236G>C | CA372468006 | FAM83H | c.1225C>G (p.Arg409Gly) c.1828C>G (p.Arg610Gly) c.405C>G c.1282C>G (p.Arg428Gly) c.1243C>G (p.Arg415Gly) c.1546C>G (p.Arg516Gly) c.1393C>G (p.Arg465Gly) | |
8 | g.143728236G= | CA1825940637 | FAM83H | c.1225C= (p.Arg409=) c.1828C= (p.Arg610=) c.405C= c.1282C= (p.Arg428=) c.1243C= (p.Arg415=) c.1546C= (p.Arg516=) c.1393C= (p.Arg465=) | |
8 | g.143728236G>T | CA463519848 | FAM83H | c.1225C>A (p.Arg409=) c.1828C>A (p.Arg610=) c.405C>A c.1282C>A (p.Arg428=) c.1243C>A (p.Arg415=) c.1546C>A (p.Arg516=) c.1393C>A (p.Arg465=) | gnomAD v4 |
8 | g.143728237C>A | CA372468008 | FAM83H | c.1224G>T (p.Lys408Asn) c.1827G>T (p.Lys609Asn) c.404G>T c.1281G>T (p.Lys427Asn) c.1242G>T (p.Lys414Asn) c.1545G>T (p.Lys515Asn) c.1392G>T (p.Lys464Asn) | |
8 | g.143728237C>G | CA372468011 | FAM83H | c.1224G>C (p.Lys408Asn) c.1827G>C (p.Lys609Asn) c.404G>C c.1281G>C (p.Lys427Asn) c.1242G>C (p.Lys414Asn) c.1545G>C (p.Lys515Asn) c.1392G>C (p.Lys464Asn) | |
8 | g.143728237C>T | CA463519849 | FAM83H | c.1224G>A (p.Lys408=) c.1827G>A (p.Lys609=) c.404G>A c.1281G>A (p.Lys427=) c.1242G>A (p.Lys414=) c.1545G>A (p.Lys515=) c.1392G>A (p.Lys464=) | |
8 | g.143728238T>A | CA372468014 | FAM83H | c.1223A>T (p.Lys408Met) c.1826A>T (p.Lys609Met) c.403A>T c.1280A>T (p.Lys427Met) c.1241A>T (p.Lys414Met) c.1544A>T (p.Lys515Met) c.1391A>T (p.Lys464Met) | |
8 | g.143728238T>C | CA372468015 | FAM83H | c.1223A>G (p.Lys408Arg) c.1826A>G (p.Lys609Arg) c.403A>G c.1280A>G (p.Lys427Arg) c.1241A>G (p.Lys414Arg) c.1544A>G (p.Lys515Arg) c.1391A>G (p.Lys464Arg) | |
8 | g.143728238T>G | CA372468020 | FAM83H | c.1223A>C (p.Lys408Thr) c.1826A>C (p.Lys609Thr) c.403A>C c.1280A>C (p.Lys427Thr) c.1241A>C (p.Lys414Thr) c.1544A>C (p.Lys515Thr) c.1391A>C (p.Lys464Thr) | |
8 | g.143728239T>A | CA372468026 | FAM83H | c.1222A>T (p.Lys408Ter) c.1825A>T (p.Lys609Ter) c.402A>T c.1279A>T (p.Lys427Ter) c.1240A>T (p.Lys414Ter) c.1543A>T (p.Lys515Ter) c.1390A>T (p.Lys464Ter) | |
8 | g.143728239T>C | CA372468024 | FAM83H | c.1222A>G (p.Lys408Glu) c.1825A>G (p.Lys609Glu) c.402A>G c.1279A>G (p.Lys427Glu) c.1240A>G (p.Lys414Glu) c.1543A>G (p.Lys515Glu) c.1390A>G (p.Lys464Glu) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.143728239T>G | CA372468022 | FAM83H | c.1222A>C (p.Lys408Gln) c.1825A>C (p.Lys609Gln) c.402A>C c.1279A>C (p.Lys427Gln) c.1240A>C (p.Lys414Gln) c.1543A>C (p.Lys515Gln) c.1390A>C (p.Lys464Gln) | gnomAD v4 |
8 | g.143728239T= | CA1825940638 | FAM83H | c.1222A= (p.Lys408=) c.1825A= (p.Lys609=) c.402A= c.1279A= (p.Lys427=) c.1240A= (p.Lys414=) c.1543A= (p.Lys515=) c.1390A= (p.Lys464=) | |
8 | g.143728240G>A | CA463519859 | FAM83H | c.1221C>T (p.Phe407=) c.1824C>T (p.Phe608=) c.401C>T c.1278C>T (p.Phe426=) c.1239C>T (p.Phe413=) c.1542C>T (p.Phe514=) c.1389C>T (p.Phe463=) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.143728240G>C | CA372468027 | FAM83H | c.1221C>G (p.Phe407Leu) c.1824C>G (p.Phe608Leu) c.401C>G c.1278C>G (p.Phe426Leu) c.1239C>G (p.Phe413Leu) c.1542C>G (p.Phe514Leu) c.1389C>G (p.Phe463Leu) | |
8 | g.143728240G= | CA1825940639 | FAM83H | c.1221C= (p.Phe407=) c.1824C= (p.Phe608=) c.401C= c.1278C= (p.Phe426=) c.1239C= (p.Phe413=) c.1542C= (p.Phe514=) c.1389C= (p.Phe463=) | |
8 | g.143728240G>T | CA372468031 | FAM83H | c.1221C>A (p.Phe407Leu) c.1824C>A (p.Phe608Leu) c.401C>A c.1278C>A (p.Phe426Leu) c.1239C>A (p.Phe413Leu) c.1542C>A (p.Phe514Leu) c.1389C>A (p.Phe463Leu) | gnomAD v4 |
8 | g.143728241A= | CA1825940640 | FAM83H | c.1220T= (p.Phe407=) c.1823T= (p.Phe608=) c.400T= c.1277T= (p.Phe426=) c.1238T= (p.Phe413=) c.1541T= (p.Phe514=) c.1388T= (p.Phe463=) | |
8 | g.143728241A>C | CA4917507 | FAM83H | c.1220T>G (p.Phe407Cys) c.1823T>G (p.Phe608Cys) c.400T>G c.1277T>G (p.Phe426Cys) c.1238T>G (p.Phe413Cys) c.1541T>G (p.Phe514Cys) c.1388T>G (p.Phe463Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.143728241A>G | CA372468037 | FAM83H | c.1220T>C (p.Phe407Ser) c.1823T>C (p.Phe608Ser) c.400T>C c.1277T>C (p.Phe426Ser) c.1238T>C (p.Phe413Ser) c.1541T>C (p.Phe514Ser) c.1388T>C (p.Phe463Ser) | gnomAD v4 |
8 | g.143728241A>T | CA372468036 | FAM83H | c.1220T>A (p.Phe407Tyr) c.1823T>A (p.Phe608Tyr) c.400T>A c.1277T>A (p.Phe426Tyr) c.1238T>A (p.Phe413Tyr) c.1541T>A (p.Phe514Tyr) c.1388T>A (p.Phe463Tyr) | |
8 | g.143728242del | CA2688980741 | FAM83H | c.1220del (p.Phe407SerfsTer?) c.1823del (p.Phe608SerfsTer?) c.400del c.1277del (p.Phe426SerfsTer?) c.1238del (p.Phe413SerfsTer?) c.1541del (p.Phe514SerfsTer?) c.1388del (p.Phe463SerfsTer?) | gnomAD v4 |
8 | g.143728242A>C | CA372468040 | FAM83H | c.1219T>G (p.Phe407Val) c.1822T>G (p.Phe608Val) c.399T>G c.1276T>G (p.Phe426Val) c.1237T>G (p.Phe413Val) c.1540T>G (p.Phe514Val) c.1387T>G (p.Phe463Val) | |
8 | g.143728242A>G | CA372468043 | FAM83H | c.1219T>C (p.Phe407Leu) c.1822T>C (p.Phe608Leu) c.399T>C c.1276T>C (p.Phe426Leu) c.1237T>C (p.Phe413Leu) c.1540T>C (p.Phe514Leu) c.1387T>C (p.Phe463Leu) | |
8 | g.143728242A>T | CA372468046 | FAM83H | c.1219T>A (p.Phe407Ile) c.1822T>A (p.Phe608Ile) c.399T>A c.1276T>A (p.Phe426Ile) c.1237T>A (p.Phe413Ile) c.1540T>A (p.Phe514Ile) c.1387T>A (p.Phe463Ile) | gnomAD v4 |
8 | g.143728243G>A | CA463519870 | FAM83H | c.1218C>T (p.Ala406=) c.1821C>T (p.Ala607=) c.398C>T c.1275C>T (p.Ala425=) c.1236C>T (p.Ala412=) c.1539C>T (p.Ala513=) c.1386C>T (p.Ala462=) | |
8 | g.143728243G>C | CA463519869 | FAM83H | c.1218C>G (p.Ala406=) c.1821C>G (p.Ala607=) c.398C>G c.1275C>G (p.Ala425=) c.1236C>G (p.Ala412=) c.1539C>G (p.Ala513=) c.1386C>G (p.Ala462=) | |
8 | g.143728243G>T | CA463519865 | FAM83H | c.1218C>A (p.Ala406=) c.1821C>A (p.Ala607=) c.398C>A c.1275C>A (p.Ala425=) c.1236C>A (p.Ala412=) c.1539C>A (p.Ala513=) c.1386C>A (p.Ala462=) | gnomAD v4 |
8 | g.143728244G>A | CA372468048 | FAM83H | c.1217C>T (p.Ala406Val) c.1820C>T (p.Ala607Val) c.397C>T c.1274C>T (p.Ala425Val) c.1235C>T (p.Ala412Val) c.1538C>T (p.Ala513Val) c.1385C>T (p.Ala462Val) | gnomAD v4 |
8 | g.143728244G>C | CA372468049 | FAM83H | c.1217C>G (p.Ala406Gly) c.1820C>G (p.Ala607Gly) c.397C>G c.1274C>G (p.Ala425Gly) c.1235C>G (p.Ala412Gly) c.1538C>G (p.Ala513Gly) c.1385C>G (p.Ala462Gly) | |
8 | g.143728244G= | CA1825940641 | FAM83H | c.1217C= (p.Ala406=) c.1820C= (p.Ala607=) c.397C= c.1274C= (p.Ala425=) c.1235C= (p.Ala412=) c.1538C= (p.Ala513=) c.1385C= (p.Ala462=) | |
8 | g.143728244G>T | CA372468052 | FAM83H | c.1217C>A (p.Ala406Asp) c.1820C>A (p.Ala607Asp) c.397C>A c.1274C>A (p.Ala425Asp) c.1235C>A (p.Ala412Asp) c.1538C>A (p.Ala513Asp) c.1385C>A (p.Ala462Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.143728245C>A | CA372468054 | FAM83H | c.1216G>T (p.Ala406Ser) c.1819G>T (p.Ala607Ser) c.396G>T c.1273G>T (p.Ala425Ser) c.1234G>T (p.Ala412Ser) c.1537G>T (p.Ala513Ser) c.1384G>T (p.Ala462Ser) | gnomAD v4 |
8 | g.143728245C= | CA1825940642 | FAM83H | c.1216G= (p.Ala406=) c.1819G= (p.Ala607=) c.396G= c.1273G= (p.Ala425=) c.1234G= (p.Ala412=) c.1537G= (p.Ala513=) c.1384G= (p.Ala462=) | |
8 | g.143728245C>G | CA372468055 | FAM83H | c.1216G>C (p.Ala406Pro) c.1819G>C (p.Ala607Pro) c.396G>C c.1273G>C (p.Ala425Pro) c.1234G>C (p.Ala412Pro) c.1537G>C (p.Ala513Pro) c.1384G>C (p.Ala462Pro) | |
8 | g.143728245C>T | CA372468059 | FAM83H | c.1216G>A (p.Ala406Thr) c.1819G>A (p.Ala607Thr) c.396G>A c.1273G>A (p.Ala425Thr) c.1234G>A (p.Ala412Thr) c.1537G>A (p.Ala513Thr) c.1384G>A (p.Ala462Thr) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.143728246G>A | CA463519877 | FAM83H | c.1215C>T (p.Asp405=) c.1818C>T (p.Asp606=) c.395C>T c.1272C>T (p.Asp424=) c.1233C>T (p.Asp411=) c.1536C>T (p.Asp512=) c.1383C>T (p.Asp461=) | gnomAD v4 |
8 | g.143728246G>C | CA372468061 | FAM83H | c.1215C>G (p.Asp405Glu) c.1818C>G (p.Asp606Glu) c.395C>G c.1272C>G (p.Asp424Glu) c.1233C>G (p.Asp411Glu) c.1536C>G (p.Asp512Glu) c.1383C>G (p.Asp461Glu) | |
8 | g.143728246G>T | CA372468065 | FAM83H | c.1215C>A (p.Asp405Glu) c.1818C>A (p.Asp606Glu) c.395C>A c.1272C>A (p.Asp424Glu) c.1233C>A (p.Asp411Glu) c.1536C>A (p.Asp512Glu) c.1383C>A (p.Asp461Glu) | gnomAD v4 |
8 | g.143728247T>A | CA372468073 | FAM83H | c.1214A>T (p.Asp405Val) c.1817A>T (p.Asp606Val) c.394A>T c.1271A>T (p.Asp424Val) c.1232A>T (p.Asp411Val) c.1535A>T (p.Asp512Val) c.1382A>T (p.Asp461Val) | |
8 | g.143728247T>C | CA372468072 | FAM83H | c.1214A>G (p.Asp405Gly) c.1817A>G (p.Asp606Gly) c.394A>G c.1271A>G (p.Asp424Gly) c.1232A>G (p.Asp411Gly) c.1535A>G (p.Asp512Gly) c.1382A>G (p.Asp461Gly) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.143728247T>G | CA372468069 | FAM83H | c.1214A>C (p.Asp405Ala) c.1817A>C (p.Asp606Ala) c.394A>C c.1271A>C (p.Asp424Ala) c.1232A>C (p.Asp411Ala) c.1535A>C (p.Asp512Ala) c.1382A>C (p.Asp461Ala) | |
8 | g.143728247T= | CA1825940643 | FAM83H | c.1214A= (p.Asp405=) c.1817A= (p.Asp606=) c.394A= c.1271A= (p.Asp424=) c.1232A= (p.Asp411=) c.1535A= (p.Asp512=) c.1382A= (p.Asp461=) | |
8 | g.143728248C>A | CA372468078 | FAM83H | c.1213G>T (p.Asp405Tyr) c.1816G>T (p.Asp606Tyr) c.393G>T c.1270G>T (p.Asp424Tyr) c.1231G>T (p.Asp411Tyr) c.1534G>T (p.Asp512Tyr) c.1381G>T (p.Asp461Tyr) | |
8 | g.143728248C= | CA1825940644 | FAM83H | c.1213G= (p.Asp405=) c.1816G= (p.Asp606=) c.393G= c.1270G= (p.Asp424=) c.1231G= (p.Asp411=) c.1534G= (p.Asp512=) c.1381G= (p.Asp461=) | |
8 | g.143728248C>G | CA372468080 | FAM83H | c.1213G>C (p.Asp405His) c.1816G>C (p.Asp606His) c.393G>C c.1270G>C (p.Asp424His) c.1231G>C (p.Asp411His) c.1534G>C (p.Asp512His) c.1381G>C (p.Asp461His) | |
8 | g.143728248C>T | CA372468082 | FAM83H | c.1213G>A (p.Asp405Asn) c.1816G>A (p.Asp606Asn) c.393G>A c.1270G>A (p.Asp424Asn) c.1231G>A (p.Asp411Asn) c.1534G>A (p.Asp512Asn) c.1381G>A (p.Asp461Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.143728249C>A | CA372468084 | FAM83H | c.1212G>T (p.Met404Ile) c.1815G>T (p.Met605Ile) c.392G>T c.1269G>T (p.Met423Ile) c.1230G>T (p.Met410Ile) c.1533G>T (p.Met511Ile) c.1380G>T (p.Met460Ile) | gnomAD v4 |
8 | g.143728249C= | CA1825940645 | FAM83H | c.1212G= (p.Met404=) c.1815G= (p.Met605=) c.392G= c.1269G= (p.Met423=) c.1230G= (p.Met410=) c.1533G= (p.Met511=) c.1380G= (p.Met460=) | |
8 | g.143728249C>G | CA372468087 | FAM83H | c.1212G>C (p.Met404Ile) c.1815G>C (p.Met605Ile) c.392G>C c.1269G>C (p.Met423Ile) c.1230G>C (p.Met410Ile) c.1533G>C (p.Met511Ile) c.1380G>C (p.Met460Ile) | |
8 | g.143728249C>T | CA372468088 | FAM83H | c.1212G>A (p.Met404Ile) c.1815G>A (p.Met605Ile) c.392G>A c.1269G>A (p.Met423Ile) c.1230G>A (p.Met410Ile) c.1533G>A (p.Met511Ile) c.1380G>A (p.Met460Ile) | dbSNP |
8 | g.143728250A>C | CA372468091 | FAM83H | c.1211T>G (p.Met404Arg) c.1814T>G (p.Met605Arg) c.391T>G c.1268T>G (p.Met423Arg) c.1229T>G (p.Met410Arg) c.1532T>G (p.Met511Arg) c.1379T>G (p.Met460Arg) | |
8 | g.143728250A>G | CA372468098 | FAM83H | c.1211T>C (p.Met404Thr) c.1814T>C (p.Met605Thr) c.391T>C c.1268T>C (p.Met423Thr) c.1229T>C (p.Met410Thr) c.1532T>C (p.Met511Thr) c.1379T>C (p.Met460Thr) | |
8 | g.143728250A>T | CA372468101 | FAM83H | c.1211T>A (p.Met404Lys) c.1814T>A (p.Met605Lys) c.391T>A c.1268T>A (p.Met423Lys) c.1229T>A (p.Met410Lys) c.1532T>A (p.Met511Lys) c.1379T>A (p.Met460Lys) | |
8 | g.143728251T>A | CA372468105 | FAM83H | c.1210A>T (p.Met404Leu) c.1813A>T (p.Met605Leu) c.390A>T c.1267A>T (p.Met423Leu) c.1228A>T (p.Met410Leu) c.1531A>T (p.Met511Leu) c.1378A>T (p.Met460Leu) | |
8 | g.143728251T>C | CA372468107 | FAM83H | c.1210A>G (p.Met404Val) c.1813A>G (p.Met605Val) c.390A>G c.1267A>G (p.Met423Val) c.1228A>G (p.Met410Val) c.1531A>G (p.Met511Val) c.1378A>G (p.Met460Val) | dbSNP gnomAD v4 |
8 | g.143728251T>G | CA372468110 | FAM83H | c.1210A>C (p.Met404Leu) c.1813A>C (p.Met605Leu) c.390A>C c.1267A>C (p.Met423Leu) c.1228A>C (p.Met410Leu) c.1531A>C (p.Met511Leu) c.1378A>C (p.Met460Leu) | |
8 | g.143728251T= | CA1825940646 | FAM83H | c.1210A= (p.Met404=) c.1813A= (p.Met605=) c.390A= c.1267A= (p.Met423=) c.1228A= (p.Met410=) c.1531A= (p.Met511=) c.1378A= (p.Met460=) | |
8 | g.143728252C>A | CA372468113 | FAM83H | c.1209G>T (p.Glu403Asp) c.1812G>T (p.Glu604Asp) c.389G>T c.1266G>T (p.Glu422Asp) c.1227G>T (p.Glu409Asp) c.1530G>T (p.Glu510Asp) c.1377G>T (p.Glu459Asp) | gnomAD v4 |
8 | g.143728252C= | CA1825940647 | FAM83H | c.1209G= (p.Glu403=) c.1812G= (p.Glu604=) c.389G= c.1266G= (p.Glu422=) c.1227G= (p.Glu409=) c.1530G= (p.Glu510=) c.1377G= (p.Glu459=) | |
8 | g.143728252C>G | CA372468115 | FAM83H | c.1209G>C (p.Glu403Asp) c.1812G>C (p.Glu604Asp) c.389G>C c.1266G>C (p.Glu422Asp) c.1227G>C (p.Glu409Asp) c.1530G>C (p.Glu510Asp) c.1377G>C (p.Glu459Asp) | dbSNP |
8 | g.143728252C>T | CA463519899 | FAM83H | c.1209G>A (p.Glu403=) c.1812G>A (p.Glu604=) c.389G>A c.1266G>A (p.Glu422=) c.1227G>A (p.Glu409=) c.1530G>A (p.Glu510=) c.1377G>A (p.Glu459=) | |
8 | g.143728253T>A | CA372468120 | FAM83H | c.1208A>T (p.Glu403Val) c.1811A>T (p.Glu604Val) c.388A>T c.1265A>T (p.Glu422Val) c.1226A>T (p.Glu409Val) c.1529A>T (p.Glu510Val) c.1376A>T (p.Glu459Val) | |
8 | g.143728253T>C | CA372468122 | FAM83H | c.1208A>G (p.Glu403Gly) c.1811A>G (p.Glu604Gly) c.388A>G c.1265A>G (p.Glu422Gly) c.1226A>G (p.Glu409Gly) c.1529A>G (p.Glu510Gly) c.1376A>G (p.Glu459Gly) | gnomAD v4 |
8 | g.143728253T>G | CA372468124 | FAM83H | c.1208A>C (p.Glu403Ala) c.1811A>C (p.Glu604Ala) c.388A>C c.1265A>C (p.Glu422Ala) c.1226A>C (p.Glu409Ala) c.1529A>C (p.Glu510Ala) c.1376A>C (p.Glu459Ala) | |
8 | g.143728254C>A | CA372468126 | FAM83H | c.1207G>T (p.Glu403Ter) c.1810G>T (p.Glu604Ter) c.387G>T c.1264G>T (p.Glu422Ter) c.1225G>T (p.Glu409Ter) c.1528G>T (p.Glu510Ter) c.1375G>T (p.Glu459Ter) | gnomAD v4 |
8 | g.143728254C= | CA1825940648 | FAM83H | c.1207G= (p.Glu403=) c.1810G= (p.Glu604=) c.387G= c.1264G= (p.Glu422=) c.1225G= (p.Glu409=) c.1528G= (p.Glu510=) c.1375G= (p.Glu459=) | |
8 | g.143728254C>G | CA372468129 | FAM83H | c.1207G>C (p.Glu403Gln) c.1810G>C (p.Glu604Gln) c.387G>C c.1264G>C (p.Glu422Gln) c.1225G>C (p.Glu409Gln) c.1528G>C (p.Glu510Gln) c.1375G>C (p.Glu459Gln) | |
8 | g.143728254C>T | CA372468130 | FAM83H | c.1207G>A (p.Glu403Lys) c.1810G>A (p.Glu604Lys) c.387G>A c.1264G>A (p.Glu422Lys) c.1225G>A (p.Glu409Lys) c.1528G>A (p.Glu510Lys) c.1375G>A (p.Glu459Lys) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.143728255C>A | CA463519913 | FAM83H | c.1206G>T (p.Leu402=) c.1809G>T (p.Leu603=) c.386G>T c.1263G>T (p.Leu421=) c.1224G>T (p.Leu408=) c.1527G>T (p.Leu509=) c.1374G>T (p.Leu458=) | gnomAD v4 |
8 | g.143728255C= | CA1825940649 | FAM83H | c.1206G= (p.Leu402=) c.1809G= (p.Leu603=) c.386G= c.1263G= (p.Leu421=) c.1224G= (p.Leu408=) c.1527G= (p.Leu509=) c.1374G= (p.Leu458=) | |
8 | g.143728255C>G | CA463519911 | FAM83H | c.1206G>C (p.Leu402=) c.1809G>C (p.Leu603=) c.386G>C c.1263G>C (p.Leu421=) c.1224G>C (p.Leu408=) c.1527G>C (p.Leu509=) c.1374G>C (p.Leu458=) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.143728255C>T | CA463519910 | FAM83H | c.1206G>A (p.Leu402=) c.1809G>A (p.Leu603=) c.386G>A c.1263G>A (p.Leu421=) c.1224G>A (p.Leu408=) c.1527G>A (p.Leu509=) c.1374G>A (p.Leu458=) | |
8 | g.143728256A>C | CA372468138 | FAM83H | c.1205T>G (p.Leu402Arg) c.1808T>G (p.Leu603Arg) c.385T>G c.1262T>G (p.Leu421Arg) c.1223T>G (p.Leu408Arg) c.1526T>G (p.Leu509Arg) c.1373T>G (p.Leu458Arg) | gnomAD v4 |
8 | g.143728256A>G | CA372468133 | FAM83H | c.1205T>C (p.Leu402Pro) c.1808T>C (p.Leu603Pro) c.385T>C c.1262T>C (p.Leu421Pro) c.1223T>C (p.Leu408Pro) c.1526T>C (p.Leu509Pro) c.1373T>C (p.Leu458Pro) | gnomAD v4 |
8 | g.143728256A>T | CA372468136 | FAM83H | c.1205T>A (p.Leu402Gln) c.1808T>A (p.Leu603Gln) c.385T>A c.1262T>A (p.Leu421Gln) c.1223T>A (p.Leu408Gln) c.1526T>A (p.Leu509Gln) c.1373T>A (p.Leu458Gln) | |
8 | g.143728257G>A | CA463519922 | FAM83H | c.1204C>T (p.Leu402=) c.1807C>T (p.Leu603=) c.384C>T c.1261C>T (p.Leu421=) c.1222C>T (p.Leu408=) c.1525C>T (p.Leu509=) c.1372C>T (p.Leu458=) | |
8 | g.143728257G>C | CA372468141 | FAM83H | c.1204C>G (p.Leu402Val) c.1807C>G (p.Leu603Val) c.384C>G c.1261C>G (p.Leu421Val) c.1222C>G (p.Leu408Val) c.1525C>G (p.Leu509Val) c.1372C>G (p.Leu458Val) | gnomAD v4 |
8 | g.143728257G>T | CA372468143 | FAM83H | c.1204C>A (p.Leu402Met) c.1807C>A (p.Leu603Met) c.384C>A c.1261C>A (p.Leu421Met) c.1222C>A (p.Leu408Met) c.1525C>A (p.Leu509Met) c.1372C>A (p.Leu458Met) | gnomAD v4 |
8 | g.143728258G>A | CA4917508 | FAM83H | c.1203C>T (p.His401=) c.1806C>T (p.His602=) c.383C>T c.1260C>T (p.His420=) c.1221C>T (p.His407=) c.1524C>T (p.His508=) c.1371C>T (p.His457=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.143728258G>C | CA372468149 | FAM83H | c.1203C>G (p.His401Gln) c.1806C>G (p.His602Gln) c.383C>G c.1260C>G (p.His420Gln) c.1221C>G (p.His407Gln) c.1524C>G (p.His508Gln) c.1371C>G (p.His457Gln) | |
8 | g.143728258G= | CA1825940650 | FAM83H | c.1203C= (p.His401=) c.1806C= (p.His602=) c.383C= c.1260C= (p.His420=) c.1221C= (p.His407=) c.1524C= (p.His508=) c.1371C= (p.His457=) | |
8 | g.143728258G>T | CA372468151 | FAM83H | c.1203C>A (p.His401Gln) c.1806C>A (p.His602Gln) c.383C>A c.1260C>A (p.His420Gln) c.1221C>A (p.His407Gln) c.1524C>A (p.His508Gln) c.1371C>A (p.His457Gln) | gnomAD v4 |
8 | g.143728259T>A | CA372468154 | FAM83H | c.1202A>T (p.His401Leu) c.1805A>T (p.His602Leu) c.382A>T c.1259A>T (p.His420Leu) c.1220A>T (p.His407Leu) c.1523A>T (p.His508Leu) c.1370A>T (p.His457Leu) | |
8 | g.143728259T>C | CA372468160 | FAM83H | c.1202A>G (p.His401Arg) c.1805A>G (p.His602Arg) c.382A>G c.1259A>G (p.His420Arg) c.1220A>G (p.His407Arg) c.1523A>G (p.His508Arg) c.1370A>G (p.His457Arg) | |
8 | g.143728259T>G | CA372468157 | FAM83H | c.1202A>C (p.His401Pro) c.1805A>C (p.His602Pro) c.382A>C c.1259A>C (p.His420Pro) c.1220A>C (p.His407Pro) c.1523A>C (p.His508Pro) c.1370A>C (p.His457Pro) | |
8 | g.143728260G>A | CA372468162 | FAM83H | c.1201C>T (p.His401Tyr) c.1804C>T (p.His602Tyr) c.381C>T c.1258C>T (p.His420Tyr) c.1219C>T (p.His407Tyr) c.1522C>T (p.His508Tyr) c.1369C>T (p.His457Tyr) | gnomAD v4 |
8 | g.143728260G>C | CA372468164 | FAM83H | c.1201C>G (p.His401Asp) c.1804C>G (p.His602Asp) c.381C>G c.1258C>G (p.His420Asp) c.1219C>G (p.His407Asp) c.1522C>G (p.His508Asp) c.1369C>G (p.His457Asp) | |
8 | g.143728260G>T | CA372468166 | FAM83H | c.1201C>A (p.His401Asn) c.1804C>A (p.His602Asn) c.381C>A c.1258C>A (p.His420Asn) c.1219C>A (p.His407Asn) c.1522C>A (p.His508Asn) c.1369C>A (p.His457Asn) | gnomAD v4 |
8 | g.143728266_143728331del | CA1120207142 | FAM83H | c.1136_1201del (p.Arg379_Arg400del) c.1739_1804del (p.Arg580_Arg601del) c.316_381del c.1193_1258del (p.Arg398_Arg419del) c.1154_1219del (p.Arg385_Arg406del) c.1457_1522del (p.Arg486_Arg507del) c.1304_1369del (p.Arg435_Arg456del) | gnomAD v3 gnomAD v4 |
8 | g.143728261C>A | CA463519937 | FAM83H | c.1200G>T (p.Arg400=) c.1803G>T (p.Arg601=) c.380G>T c.1257G>T (p.Arg419=) c.1218G>T (p.Arg406=) c.1521G>T (p.Arg507=) c.1368G>T (p.Arg456=) | |
8 | g.143728261C>G | CA463519938 | FAM83H | c.1200G>C (p.Arg400=) c.1803G>C (p.Arg601=) c.380G>C c.1257G>C (p.Arg419=) c.1218G>C (p.Arg406=) c.1521G>C (p.Arg507=) c.1368G>C (p.Arg456=) | |
8 | g.143728261C>T | CA463519935 | FAM83H | c.1200G>A (p.Arg400=) c.1803G>A (p.Arg601=) c.380G>A c.1257G>A (p.Arg419=) c.1218G>A (p.Arg406=) c.1521G>A (p.Arg507=) c.1368G>A (p.Arg456=) | gnomAD v4 |
8 | g.143728262C>A | CA372468168 | FAM83H | c.1199G>T (p.Arg400Leu) c.1802G>T (p.Arg601Leu) c.379G>T c.1256G>T (p.Arg419Leu) c.1217G>T (p.Arg406Leu) c.1520G>T (p.Arg507Leu) c.1367G>T (p.Arg456Leu) | gnomAD v4 |
8 | g.143728262C= | CA1825940651 | FAM83H | c.1199G= (p.Arg400=) c.1802G= (p.Arg601=) c.379G= c.1256G= (p.Arg419=) c.1217G= (p.Arg406=) c.1520G= (p.Arg507=) c.1367G= (p.Arg456=) | |
8 | g.143728262C>G | CA372468169 | FAM83H | c.1199G>C (p.Arg400Pro) c.1802G>C (p.Arg601Pro) c.379G>C c.1256G>C (p.Arg419Pro) c.1217G>C (p.Arg406Pro) c.1520G>C (p.Arg507Pro) c.1367G>C (p.Arg456Pro) | |
8 | g.143728262C>T | CA4917509 | FAM83H | c.1199G>A (p.Arg400Gln) c.1802G>A (p.Arg601Gln) c.379G>A c.1256G>A (p.Arg419Gln) c.1217G>A (p.Arg406Gln) c.1520G>A (p.Arg507Gln) c.1367G>A (p.Arg456Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.143728263G>A | CA372468179 | FAM83H | c.1198C>T (p.Arg400Trp) c.1801C>T (p.Arg601Trp) c.378C>T c.1255C>T (p.Arg419Trp) c.1216C>T (p.Arg406Trp) c.1519C>T (p.Arg507Trp) c.1366C>T (p.Arg456Trp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.143728263G>C | CA372468181 | FAM83H | c.1198C>G (p.Arg400Gly) c.1801C>G (p.Arg601Gly) c.378C>G c.1255C>G (p.Arg419Gly) c.1216C>G (p.Arg406Gly) c.1519C>G (p.Arg507Gly) c.1366C>G (p.Arg456Gly) | |
8 | g.143728263G= | CA1825940652 | FAM83H | c.1198C= (p.Arg400=) c.1801C= (p.Arg601=) c.378C= c.1255C= (p.Arg419=) c.1216C= (p.Arg406=) c.1519C= (p.Arg507=) c.1366C= (p.Arg456=) | |
8 | g.143728263G>T | CA463519949 | FAM83H | c.1198C>A (p.Arg400=) c.1801C>A (p.Arg601=) c.378C>A c.1255C>A (p.Arg419=) c.1216C>A (p.Arg406=) c.1519C>A (p.Arg507=) c.1366C>A (p.Arg456=) | gnomAD v4 |
8 | g.143728263_143728264delinsGC | CA1825940653 | FAM83H | c.1197_1198delinsGC (p.Ala399=) c.1800_1801delinsGC (p.Ala600=) c.377_378delinsGC c.1254_1255delinsGC (p.Ala418=) c.1215_1216delinsGC (p.Ala405=) c.1518_1519delinsGC (p.Ala506=) c.1365_1366delinsGC (p.Ala455=) | |
8 | g.143728264del | CA1825940654 | FAM83H | c.1197del (p.Arg400GlyfsTer?) c.1800del (p.Arg601GlyfsTer?) c.377del c.1254del (p.Arg419GlyfsTer?) c.1215del (p.Arg406GlyfsTer?) c.1518del (p.Arg507GlyfsTer?) c.1365del (p.Arg456GlyfsTer?) | dbSNP |
8 | g.143728264C>A | CA463519960 | FAM83H | c.1197G>T (p.Ala399=) c.1800G>T (p.Ala600=) c.377G>T c.1254G>T (p.Ala418=) c.1215G>T (p.Ala405=) c.1518G>T (p.Ala506=) c.1365G>T (p.Ala455=) | gnomAD v4 |
8 | g.143728264C= | CA1825940655 | FAM83H | c.1197G= (p.Ala399=) c.1800G= (p.Ala600=) c.377G= c.1254G= (p.Ala418=) c.1215G= (p.Ala405=) c.1518G= (p.Ala506=) c.1365G= (p.Ala455=) | |
8 | g.143728264C>G | CA463519958 | FAM83H | c.1197G>C (p.Ala399=) c.1800G>C (p.Ala600=) c.377G>C c.1254G>C (p.Ala418=) c.1215G>C (p.Ala405=) c.1518G>C (p.Ala506=) c.1365G>C (p.Ala455=) | dbSNP |
8 | g.143728264C>T | CA463519955 | FAM83H | c.1197G>A (p.Ala399=) c.1800G>A (p.Ala600=) c.377G>A c.1254G>A (p.Ala418=) c.1215G>A (p.Ala405=) c.1518G>A (p.Ala506=) c.1365G>A (p.Ala455=) | gnomAD v4 |
8 | g.143728265G>A | CA372468184 | FAM83H | c.1196C>T (p.Ala399Val) c.1799C>T (p.Ala600Val) c.376C>T c.1253C>T (p.Ala418Val) c.1214C>T (p.Ala405Val) c.1517C>T (p.Ala506Val) c.1364C>T (p.Ala455Val) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.143728265G>C | CA372468187 | FAM83H | c.1196C>G (p.Ala399Gly) c.1799C>G (p.Ala600Gly) c.376C>G c.1253C>G (p.Ala418Gly) c.1214C>G (p.Ala405Gly) c.1517C>G (p.Ala506Gly) c.1364C>G (p.Ala455Gly) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.143728265G= | CA1825940656 | FAM83H | c.1196C= (p.Ala399=) c.1799C= (p.Ala600=) c.376C= c.1253C= (p.Ala418=) c.1214C= (p.Ala405=) c.1517C= (p.Ala506=) c.1364C= (p.Ala455=) | |
8 | g.143728265G>T | CA372468189 | FAM83H | c.1196C>A (p.Ala399Glu) c.1799C>A (p.Ala600Glu) c.376C>A c.1253C>A (p.Ala418Glu) c.1214C>A (p.Ala405Glu) c.1517C>A (p.Ala506Glu) c.1364C>A (p.Ala455Glu) | gnomAD v4 |
8 | g.143728266C>A | CA372468192 | FAM83H | c.1195G>T (p.Ala399Ser) c.1798G>T (p.Ala600Ser) c.375G>T c.1252G>T (p.Ala418Ser) c.1213G>T (p.Ala405Ser) c.1516G>T (p.Ala506Ser) c.1363G>T (p.Ala455Ser) | gnomAD v4 |
8 | g.143728266C>G | CA372468191 | FAM83H | c.1195G>C (p.Ala399Pro) c.1798G>C (p.Ala600Pro) c.375G>C c.1252G>C (p.Ala418Pro) c.1213G>C (p.Ala405Pro) c.1516G>C (p.Ala506Pro) c.1363G>C (p.Ala455Pro) | |
8 | g.143728266C>T | CA372468190 | FAM83H | c.1195G>A (p.Ala399Thr) c.1798G>A (p.Ala600Thr) c.375G>A c.1252G>A (p.Ala418Thr) c.1213G>A (p.Ala405Thr) c.1516G>A (p.Ala506Thr) c.1363G>A (p.Ala455Thr) | COSMIC |
8 | g.143728267C>A | CA372468196 | FAM83H | c.1194G>T (p.Gln398His) c.1797G>T (p.Gln599His) c.374G>T c.1251G>T (p.Gln417His) c.1212G>T (p.Gln404His) c.1515G>T (p.Gln505His) c.1362G>T (p.Gln454His) | gnomAD v4 |
8 | g.143728267C>G | CA372468193 | FAM83H | c.1194G>C (p.Gln398His) c.1797G>C (p.Gln599His) c.374G>C c.1251G>C (p.Gln417His) c.1212G>C (p.Gln404His) c.1515G>C (p.Gln505His) c.1362G>C (p.Gln454His) | |
8 | g.143728267C>T | CA463519964 | FAM83H | c.1194G>A (p.Gln398=) c.1797G>A (p.Gln599=) c.374G>A c.1251G>A (p.Gln417=) c.1212G>A (p.Gln404=) c.1515G>A (p.Gln505=) c.1362G>A (p.Gln454=) | |
8 | g.143728268T>A | CA372468198 | FAM83H | c.1193A>T (p.Gln398Leu) c.1796A>T (p.Gln599Leu) c.373A>T c.1250A>T (p.Gln417Leu) c.1211A>T (p.Gln404Leu) c.1514A>T (p.Gln505Leu) c.1361A>T (p.Gln454Leu) | |
8 | g.143728268T>C | CA372468202 | FAM83H | c.1193A>G (p.Gln398Arg) c.1796A>G (p.Gln599Arg) c.373A>G c.1250A>G (p.Gln417Arg) c.1211A>G (p.Gln404Arg) c.1514A>G (p.Gln505Arg) c.1361A>G (p.Gln454Arg) | gnomAD v4 |
8 | g.143728268T>G | CA372468204 | FAM83H | c.1193A>C (p.Gln398Pro) c.1796A>C (p.Gln599Pro) c.373A>C c.1250A>C (p.Gln417Pro) c.1211A>C (p.Gln404Pro) c.1514A>C (p.Gln505Pro) c.1361A>C (p.Gln454Pro) | |
8 | g.143728268_143728269delinsTG | CA1825940657 | FAM83H | c.1192_1193delinsCA (p.Gln398=) c.1795_1796delinsCA (p.Gln599=) c.372_373delinsCA c.1249_1250delinsCA (p.Gln417=) c.1210_1211delinsCA (p.Gln404=) c.1513_1514delinsCA (p.Gln505=) c.1360_1361delinsCA (p.Gln454=) | |
8 | g.143728269G>A | CA114493 | FAM83H | c.1192C>T (p.Gln398Ter) c.1795C>T (p.Gln599Ter) c.372C>T c.1249C>T (p.Gln417Ter) c.1210C>T (p.Gln404Ter) c.1513C>T (p.Gln505Ter) c.1360C>T (p.Gln454Ter) | ClinVar dbSNP |
8 | g.143728269G>C | CA372468207 | FAM83H | c.1192C>G (p.Gln398Glu) c.1795C>G (p.Gln599Glu) c.372C>G c.1249C>G (p.Gln417Glu) c.1210C>G (p.Gln404Glu) c.1513C>G (p.Gln505Glu) c.1360C>G (p.Gln454Glu) | |
8 | g.143728269G= | CA1825940658 | FAM83H | c.1192C= (p.Gln398=) c.1795C= (p.Gln599=) c.372C= c.1249C= (p.Gln417=) c.1210C= (p.Gln404=) c.1513C= (p.Gln505=) c.1360C= (p.Gln454=) | |
8 | g.143728269G>T | CA372468209 | FAM83H | c.1192C>A (p.Gln398Lys) c.1795C>A (p.Gln599Lys) c.372C>A c.1249C>A (p.Gln417Lys) c.1210C>A (p.Gln404Lys) c.1513C>A (p.Gln505Lys) c.1360C>A (p.Gln454Lys) | gnomAD v4 |
8 | g.143728270del | CA1120207161 | FAM83H | c.1192del (p.Gln398ArgfsTer?) c.1795del (p.Gln599ArgfsTer?) c.372del c.1249del (p.Gln417ArgfsTer?) c.1210del (p.Gln404ArgfsTer?) c.1513del (p.Gln505ArgfsTer?) c.1360del (p.Gln454ArgfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.143728270G>A | CA463519969 | FAM83H | c.1191C>T (p.Phe397=) c.1794C>T (p.Phe598=) c.371C>T c.1248C>T (p.Phe416=) c.1209C>T (p.Phe403=) c.1512C>T (p.Phe504=) c.1359C>T (p.Phe453=) | |
8 | g.143728270G>C | CA372468214 | FAM83H | c.1191C>G (p.Phe397Leu) c.1794C>G (p.Phe598Leu) c.371C>G c.1248C>G (p.Phe416Leu) c.1209C>G (p.Phe403Leu) c.1512C>G (p.Phe504Leu) c.1359C>G (p.Phe453Leu) | gnomAD v4 |
8 | g.143728270G>T | CA372468217 | FAM83H | c.1191C>A (p.Phe397Leu) c.1794C>A (p.Phe598Leu) c.371C>A c.1248C>A (p.Phe416Leu) c.1209C>A (p.Phe403Leu) c.1512C>A (p.Phe504Leu) c.1359C>A (p.Phe453Leu) | |
8 | g.143728271A>C | CA372468220 | FAM83H | c.1190T>G (p.Phe397Cys) c.1793T>G (p.Phe598Cys) c.370T>G c.1247T>G (p.Phe416Cys) c.1208T>G (p.Phe403Cys) c.1511T>G (p.Phe504Cys) c.1358T>G (p.Phe453Cys) | |
8 | g.143728271A>G | CA372468223 | FAM83H | c.1190T>C (p.Phe397Ser) c.1793T>C (p.Phe598Ser) c.370T>C c.1247T>C (p.Phe416Ser) c.1208T>C (p.Phe403Ser) c.1511T>C (p.Phe504Ser) c.1358T>C (p.Phe453Ser) | gnomAD v4 |
8 | g.143728271A>T | CA372468225 | FAM83H | c.1190T>A (p.Phe397Tyr) c.1793T>A (p.Phe598Tyr) c.370T>A c.1247T>A (p.Phe416Tyr) c.1208T>A (p.Phe403Tyr) c.1511T>A (p.Phe504Tyr) c.1358T>A (p.Phe453Tyr) | |
8 | g.143728272A>C | CA372468227 | FAM83H | c.1189T>G (p.Phe397Val) c.1792T>G (p.Phe598Val) c.369T>G c.1246T>G (p.Phe416Val) c.1207T>G (p.Phe403Val) c.1510T>G (p.Phe504Val) c.1357T>G (p.Phe453Val) | |
8 | g.143728272A>G | CA372468229 | FAM83H | c.1189T>C (p.Phe397Leu) c.1792T>C (p.Phe598Leu) c.369T>C c.1246T>C (p.Phe416Leu) c.1207T>C (p.Phe403Leu) c.1510T>C (p.Phe504Leu) c.1357T>C (p.Phe453Leu) | gnomAD v4 |
8 | g.143728272A>T | CA372468232 | FAM83H | c.1189T>A (p.Phe397Ile) c.1792T>A (p.Phe598Ile) c.369T>A c.1246T>A (p.Phe416Ile) c.1207T>A (p.Phe403Ile) c.1510T>A (p.Phe504Ile) c.1357T>A (p.Phe453Ile) | |
8 | g.143728273G>A | CA463519981 | FAM83H | c.1188C>T (p.Phe396=) c.1791C>T (p.Phe597=) c.368C>T c.1245C>T (p.Phe415=) c.1206C>T (p.Phe402=) c.1509C>T (p.Phe503=) c.1356C>T (p.Phe452=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.143728273G>C | CA372468234 | FAM83H | c.1188C>G (p.Phe396Leu) c.1791C>G (p.Phe597Leu) c.368C>G c.1245C>G (p.Phe415Leu) c.1206C>G (p.Phe402Leu) c.1509C>G (p.Phe503Leu) c.1356C>G (p.Phe452Leu) | |
8 | g.143728273G= | CA1825940659 | FAM83H | c.1188C= (p.Phe396=) c.1791C= (p.Phe597=) c.368C= c.1245C= (p.Phe415=) c.1206C= (p.Phe402=) c.1509C= (p.Phe503=) c.1356C= (p.Phe452=) | |
8 | g.143728273G>T | CA372468236 | FAM83H | c.1188C>A (p.Phe396Leu) c.1791C>A (p.Phe597Leu) c.368C>A c.1245C>A (p.Phe415Leu) c.1206C>A (p.Phe402Leu) c.1509C>A (p.Phe503Leu) c.1356C>A (p.Phe452Leu) | gnomAD v4 |
8 | g.143728274A= | CA1825940660 | FAM83H | c.1187T= (p.Phe396=) c.1790T= (p.Phe597=) c.367T= c.1244T= (p.Phe415=) c.1205T= (p.Phe402=) c.1508T= (p.Phe503=) c.1355T= (p.Phe452=) | |
8 | g.143728274A>C | CA372468238 | FAM83H | c.1187T>G (p.Phe396Cys) c.1790T>G (p.Phe597Cys) c.367T>G c.1244T>G (p.Phe415Cys) c.1205T>G (p.Phe402Cys) c.1508T>G (p.Phe503Cys) c.1355T>G (p.Phe452Cys) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.143728274A>G | CA372468241 | FAM83H | c.1187T>C (p.Phe396Ser) c.1790T>C (p.Phe597Ser) c.367T>C c.1244T>C (p.Phe415Ser) c.1205T>C (p.Phe402Ser) c.1508T>C (p.Phe503Ser) c.1355T>C (p.Phe452Ser) | |
8 | g.143728274A>T | CA372468244 | FAM83H | c.1187T>A (p.Phe396Tyr) c.1790T>A (p.Phe597Tyr) c.367T>A c.1244T>A (p.Phe415Tyr) c.1205T>A (p.Phe402Tyr) c.1508T>A (p.Phe503Tyr) c.1355T>A (p.Phe452Tyr) | gnomAD v4 |
8 | g.143728275del | CA2688980783 | FAM83H | c.1187del (p.Phe396SerfsTer?) c.1790del (p.Phe597SerfsTer?) c.367del c.1244del (p.Phe415SerfsTer?) c.1205del (p.Phe402SerfsTer?) c.1508del (p.Phe503SerfsTer?) c.1355del (p.Phe452SerfsTer?) | gnomAD v4 |
8 | g.143728275A= | CA1825940661 | FAM83H | c.1186T= (p.Phe396=) c.1789T= (p.Phe597=) c.366T= c.1243T= (p.Phe415=) c.1204T= (p.Phe402=) c.1507T= (p.Phe503=) c.1354T= (p.Phe452=) | |
8 | g.143728275A>C | CA372468245 | FAM83H | c.1186T>G (p.Phe396Val) c.1789T>G (p.Phe597Val) c.366T>G c.1243T>G (p.Phe415Val) c.1204T>G (p.Phe402Val) c.1507T>G (p.Phe503Val) c.1354T>G (p.Phe452Val) | gnomAD v4 |
8 | g.143728275A>G | CA372468246 | FAM83H | c.1186T>C (p.Phe396Leu) c.1789T>C (p.Phe597Leu) c.366T>C c.1243T>C (p.Phe415Leu) c.1204T>C (p.Phe402Leu) c.1507T>C (p.Phe503Leu) c.1354T>C (p.Phe452Leu) | ClinVar dbSNP gnomAD v4 |
8 | g.143728275A>T | CA372468247 | FAM83H | c.1186T>A (p.Phe396Ile) c.1789T>A (p.Phe597Ile) c.366T>A c.1243T>A (p.Phe415Ile) c.1204T>A (p.Phe402Ile) c.1507T>A (p.Phe503Ile) c.1354T>A (p.Phe452Ile) | gnomAD v4 |
8 | g.143728276G>A | CA4917510 | FAM83H | c.1185C>T (p.Gly395=) c.1788C>T (p.Gly596=) c.365C>T c.1242C>T (p.Gly414=) c.1203C>T (p.Gly401=) c.1506C>T (p.Gly502=) c.1353C>T (p.Gly451=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.143728276G>C | CA463519991 | FAM83H | c.1185C>G (p.Gly395=) c.1788C>G (p.Gly596=) c.365C>G c.1242C>G (p.Gly414=) c.1203C>G (p.Gly401=) c.1506C>G (p.Gly502=) c.1353C>G (p.Gly451=) | |
8 | g.143728276G= | CA1825940662 | FAM83H | c.1185C= (p.Gly395=) c.1788C= (p.Gly596=) c.365C= c.1242C= (p.Gly414=) c.1203C= (p.Gly401=) c.1506C= (p.Gly502=) c.1353C= (p.Gly451=) | |
8 | g.143728276G>T | CA463519993 | FAM83H | c.1185C>A (p.Gly395=) c.1788C>A (p.Gly596=) c.365C>A c.1242C>A (p.Gly414=) c.1203C>A (p.Gly401=) c.1506C>A (p.Gly502=) c.1353C>A (p.Gly451=) | gnomAD v4 |
8 | g.143728277C>A | CA372468251 | FAM83H | c.1184G>T (p.Gly395Val) c.1787G>T (p.Gly596Val) c.364G>T c.1241G>T (p.Gly414Val) c.1202G>T (p.Gly401Val) c.1505G>T (p.Gly502Val) c.1352G>T (p.Gly451Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.143728277C= | CA1825940663 | FAM83H | c.1184G= (p.Gly395=) c.1787G= (p.Gly596=) c.364G= c.1241G= (p.Gly414=) c.1202G= (p.Gly401=) c.1505G= (p.Gly502=) c.1352G= (p.Gly451=) | |
8 | g.143728277C>G | CA372468253 | FAM83H | c.1184G>C (p.Gly395Ala) c.1787G>C (p.Gly596Ala) c.364G>C c.1241G>C (p.Gly414Ala) c.1202G>C (p.Gly401Ala) c.1505G>C (p.Gly502Ala) c.1352G>C (p.Gly451Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.143728277C>T | CA372468254 | FAM83H | c.1184G>A (p.Gly395Asp) c.1787G>A (p.Gly596Asp) c.364G>A c.1241G>A (p.Gly414Asp) c.1202G>A (p.Gly401Asp) c.1505G>A (p.Gly502Asp) c.1352G>A (p.Gly451Asp) | gnomAD v4 |
8 | g.143728280del | CA2688980791 | FAM83H | c.1184del (p.Gly395AlafsTer?) c.1787del (p.Gly596AlafsTer?) c.364del c.1241del (p.Gly414AlafsTer?) c.1202del (p.Gly401AlafsTer?) c.1505del (p.Gly502AlafsTer?) c.1352del (p.Gly451AlafsTer?) | gnomAD v4 |
8 | g.143728278C>A | CA372468257 | FAM83H | c.1183G>T (p.Gly395Cys) c.1786G>T (p.Gly596Cys) c.363G>T c.1240G>T (p.Gly414Cys) c.1201G>T (p.Gly401Cys) c.1504G>T (p.Gly502Cys) c.1351G>T (p.Gly451Cys) | gnomAD v4 |
8 | g.143728278C>G | CA372468260 | FAM83H | c.1183G>C (p.Gly395Arg) c.1786G>C (p.Gly596Arg) c.363G>C c.1240G>C (p.Gly414Arg) c.1201G>C (p.Gly401Arg) c.1504G>C (p.Gly502Arg) c.1351G>C (p.Gly451Arg) | |
8 | g.143728278C>T | CA372468262 | FAM83H | c.1183G>A (p.Gly395Ser) c.1786G>A (p.Gly596Ser) c.363G>A c.1240G>A (p.Gly414Ser) c.1201G>A (p.Gly401Ser) c.1504G>A (p.Gly502Ser) c.1351G>A (p.Gly451Ser) | |
8 | g.143728279C>A | CA463519997 | FAM83H | c.1182G>T (p.Arg394=) c.1785G>T (p.Arg595=) c.362G>T c.1239G>T (p.Arg413=) c.1200G>T (p.Arg400=) c.1503G>T (p.Arg501=) c.1350G>T (p.Arg450=) | |
8 | g.143728279C= | CA1825940664 | FAM83H | c.1182G= (p.Arg394=) c.1785G= (p.Arg595=) c.362G= c.1239G= (p.Arg413=) c.1200G= (p.Arg400=) c.1503G= (p.Arg501=) c.1350G= (p.Arg450=) | |
8 | g.143728279C>G | CA463520001 | FAM83H | c.1182G>C (p.Arg394=) c.1785G>C (p.Arg595=) c.362G>C c.1239G>C (p.Arg413=) c.1200G>C (p.Arg400=) c.1503G>C (p.Arg501=) c.1350G>C (p.Arg450=) | gnomAD v4 |
8 | g.143728279C>T | CA463520003 | FAM83H | c.1182G>A (p.Arg394=) c.1785G>A (p.Arg595=) c.362G>A c.1239G>A (p.Arg413=) c.1200G>A (p.Arg400=) c.1503G>A (p.Arg501=) c.1350G>A (p.Arg450=) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.143728280C>A | CA372468266 | FAM83H | c.1181G>T (p.Arg394Leu) c.1784G>T (p.Arg595Leu) c.361G>T c.1238G>T (p.Arg413Leu) c.1199G>T (p.Arg400Leu) c.1502G>T (p.Arg501Leu) c.1349G>T (p.Arg450Leu) | gnomAD v4 |
8 | g.143728280C= | CA1825940665 | FAM83H | c.1181G= (p.Arg394=) c.1784G= (p.Arg595=) c.361G= c.1238G= (p.Arg413=) c.1199G= (p.Arg400=) c.1502G= (p.Arg501=) c.1349G= (p.Arg450=) | |
8 | g.143728280C>G | CA372468270 | FAM83H | c.1181G>C (p.Arg394Pro) c.1784G>C (p.Arg595Pro) c.361G>C c.1238G>C (p.Arg413Pro) c.1199G>C (p.Arg400Pro) c.1502G>C (p.Arg501Pro) c.1349G>C (p.Arg450Pro) | |
8 | g.143728280C>T | CA372468268 | FAM83H | c.1181G>A (p.Arg394Gln) c.1784G>A (p.Arg595Gln) c.361G>A c.1238G>A (p.Arg413Gln) c.1199G>A (p.Arg400Gln) c.1502G>A (p.Arg501Gln) c.1349G>A (p.Arg450Gln) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.143728281G>A | CA372468273 | FAM83H | c.1180C>T (p.Arg394Trp) c.1783C>T (p.Arg595Trp) c.360C>T c.1237C>T (p.Arg413Trp) c.1198C>T (p.Arg400Trp) c.1501C>T (p.Arg501Trp) c.1348C>T (p.Arg450Trp) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.143728281G>C | CA372468276 | FAM83H | c.1180C>G (p.Arg394Gly) c.1783C>G (p.Arg595Gly) c.360C>G c.1237C>G (p.Arg413Gly) c.1198C>G (p.Arg400Gly) c.1501C>G (p.Arg501Gly) c.1348C>G (p.Arg450Gly) | |
8 | g.143728281G= | CA1825940666 | FAM83H | c.1180C= (p.Arg394=) c.1783C= (p.Arg595=) c.360C= c.1237C= (p.Arg413=) c.1198C= (p.Arg400=) c.1501C= (p.Arg501=) c.1348C= (p.Arg450=) | |
8 | g.143728281G>T | CA463520011 | FAM83H | c.1180C>A (p.Arg394=) c.1783C>A (p.Arg595=) c.360C>A c.1237C>A (p.Arg413=) c.1198C>A (p.Arg400=) c.1501C>A (p.Arg501=) c.1348C>A (p.Arg450=) | gnomAD v4 |
8 | g.143728282C>A | CA463520013 | FAM83H | c.1179G>T (p.Ala393=) c.1782G>T (p.Ala594=) c.359G>T c.1236G>T (p.Ala412=) c.1197G>T (p.Ala399=) c.1500G>T (p.Ala500=) c.1347G>T (p.Ala449=) | gnomAD v4 |
8 | g.143728282C= | CA1825940667 | FAM83H | c.1179G= (p.Ala393=) c.1782G= (p.Ala594=) c.359G= c.1236G= (p.Ala412=) c.1197G= (p.Ala399=) c.1500G= (p.Ala500=) c.1347G= (p.Ala449=) | |
8 | g.143728282C>G | CA463520014 | FAM83H | c.1179G>C (p.Ala393=) c.1782G>C (p.Ala594=) c.359G>C c.1236G>C (p.Ala412=) c.1197G>C (p.Ala399=) c.1500G>C (p.Ala500=) c.1347G>C (p.Ala449=) | dbSNP |
8 | g.143728282C>T | CA463520016 | FAM83H | c.1179G>A (p.Ala393=) c.1782G>A (p.Ala594=) c.359G>A c.1236G>A (p.Ala412=) c.1197G>A (p.Ala399=) c.1500G>A (p.Ala500=) c.1347G>A (p.Ala449=) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.143728283G>A | CA372468279 | FAM83H | c.1178C>T (p.Ala393Val) c.1781C>T (p.Ala594Val) c.358C>T c.1235C>T (p.Ala412Val) c.1196C>T (p.Ala399Val) c.1499C>T (p.Ala500Val) c.1346C>T (p.Ala449Val) | gnomAD v4 |
8 | g.143728283G>C | CA372468280 | FAM83H | c.1178C>G (p.Ala393Gly) c.1781C>G (p.Ala594Gly) c.358C>G c.1235C>G (p.Ala412Gly) c.1196C>G (p.Ala399Gly) c.1499C>G (p.Ala500Gly) c.1346C>G (p.Ala449Gly) | |
8 | g.143728283G>T | CA372468282 | FAM83H | c.1178C>A (p.Ala393Glu) c.1781C>A (p.Ala594Glu) c.358C>A c.1235C>A (p.Ala412Glu) c.1196C>A (p.Ala399Glu) c.1499C>A (p.Ala500Glu) c.1346C>A (p.Ala449Glu) | gnomAD v4 |
8 | g.143728284C>A | CA372468289 | FAM83H | c.1177G>T (p.Ala393Ser) c.1780G>T (p.Ala594Ser) c.357G>T c.1234G>T (p.Ala412Ser) c.1195G>T (p.Ala399Ser) c.1498G>T (p.Ala500Ser) c.1345G>T (p.Ala449Ser) | gnomAD v4 COSMIC |
8 | g.143728284C= | CA1825940668 | FAM83H | c.1177G= (p.Ala393=) c.1780G= (p.Ala594=) c.357G= c.1234G= (p.Ala412=) c.1195G= (p.Ala399=) c.1498G= (p.Ala500=) c.1345G= (p.Ala449=) | |
8 | g.143728284C>G | CA372468286 | FAM83H | c.1177G>C (p.Ala393Pro) c.1780G>C (p.Ala594Pro) c.357G>C c.1234G>C (p.Ala412Pro) c.1195G>C (p.Ala399Pro) c.1498G>C (p.Ala500Pro) c.1345G>C (p.Ala449Pro) | |
8 | g.143728284C>T | CA372468285 | FAM83H | c.1177G>A (p.Ala393Thr) c.1780G>A (p.Ala594Thr) c.357G>A c.1234G>A (p.Ala412Thr) c.1195G>A (p.Ala399Thr) c.1498G>A (p.Ala500Thr) c.1345G>A (p.Ala449Thr) | dbSNP gnomAD v4 |
8 | g.143728285G>A | CA463520030 | FAM83H | c.1176C>T (p.Gly392=) c.1779C>T (p.Gly593=) c.356C>T c.1233C>T (p.Gly411=) c.1194C>T (p.Gly398=) c.1497C>T (p.Gly499=) c.1344C>T (p.Gly448=) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.143728285G>C | CA463520034 | FAM83H | c.1176C>G (p.Gly392=) c.1779C>G (p.Gly593=) c.356C>G c.1233C>G (p.Gly411=) c.1194C>G (p.Gly398=) c.1497C>G (p.Gly499=) c.1344C>G (p.Gly448=) | gnomAD v4 |
8 | g.143728285G= | CA1825940669 | FAM83H | c.1176C= (p.Gly392=) c.1779C= (p.Gly593=) c.356C= c.1233C= (p.Gly411=) c.1194C= (p.Gly398=) c.1497C= (p.Gly499=) c.1344C= (p.Gly448=) | |
8 | g.143728285G>T | CA463520035 | FAM83H | c.1176C>A (p.Gly392=) c.1779C>A (p.Gly593=) c.356C>A c.1233C>A (p.Gly411=) c.1194C>A (p.Gly398=) c.1497C>A (p.Gly499=) c.1344C>A (p.Gly448=) | gnomAD v4 |
8 | g.143728286C>A | CA372468292 | FAM83H | c.1175G>T (p.Gly392Val) c.1778G>T (p.Gly593Val) c.355G>T c.1232G>T (p.Gly411Val) c.1193G>T (p.Gly398Val) c.1496G>T (p.Gly499Val) c.1343G>T (p.Gly448Val) | dbSNP gnomAD v4 |
8 | g.143728286C= | CA1825940670 | FAM83H | c.1175G= (p.Gly392=) c.1778G= (p.Gly593=) c.355G= c.1232G= (p.Gly411=) c.1193G= (p.Gly398=) c.1496G= (p.Gly499=) c.1343G= (p.Gly448=) | |
8 | g.143728286C>G | CA372468294 | FAM83H | c.1175G>C (p.Gly392Ala) c.1778G>C (p.Gly593Ala) c.355G>C c.1232G>C (p.Gly411Ala) c.1193G>C (p.Gly398Ala) c.1496G>C (p.Gly499Ala) c.1343G>C (p.Gly448Ala) | ClinVar |
8 | g.143728286C>T | CA4917511 | FAM83H | c.1175G>A (p.Gly392Asp) c.1778G>A (p.Gly593Asp) c.355G>A c.1232G>A (p.Gly411Asp) c.1193G>A (p.Gly398Asp) c.1496G>A (p.Gly499Asp) c.1343G>A (p.Gly448Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.143728287C>A | CA372468296 | FAM83H | c.1174G>T (p.Gly392Cys) c.1777G>T (p.Gly593Cys) c.354G>T c.1231G>T (p.Gly411Cys) c.1192G>T (p.Gly398Cys) c.1495G>T (p.Gly499Cys) c.1342G>T (p.Gly448Cys) | gnomAD v4 |
8 | g.143728287C= | CA1825940671 | FAM83H | c.1174G= (p.Gly392=) c.1777G= (p.Gly593=) c.354G= c.1231G= (p.Gly411=) c.1192G= (p.Gly398=) c.1495G= (p.Gly499=) c.1342G= (p.Gly448=) | |
8 | g.143728287C>G | CA372468298 | FAM83H | c.1174G>C (p.Gly392Arg) c.1777G>C (p.Gly593Arg) c.354G>C c.1231G>C (p.Gly411Arg) c.1192G>C (p.Gly398Arg) c.1495G>C (p.Gly499Arg) c.1342G>C (p.Gly448Arg) | |
8 | g.143728287C>T | CA372468299 | FAM83H | c.1174G>A (p.Gly392Ser) c.1777G>A (p.Gly593Ser) c.354G>A c.1231G>A (p.Gly411Ser) c.1192G>A (p.Gly398Ser) c.1495G>A (p.Gly499Ser) c.1342G>A (p.Gly448Ser) | |
8 | g.143728288C>A | CA463520040 | FAM83H | c.1173G>T (p.Ala391=) c.1776G>T (p.Ala592=) c.353G>T c.1230G>T (p.Ala410=) c.1191G>T (p.Ala397=) c.1494G>T (p.Ala498=) c.1341G>T (p.Ala447=) | gnomAD v4 |
8 | g.143728288C= | CA1825940672 | FAM83H | c.1173G= (p.Ala391=) c.1776G= (p.Ala592=) c.353G= c.1230G= (p.Ala410=) c.1191G= (p.Ala397=) c.1494G= (p.Ala498=) c.1341G= (p.Ala447=) | |
8 | g.143728288C>G | CA463520043 | FAM83H | c.1173G>C (p.Ala391=) c.1776G>C (p.Ala592=) c.353G>C c.1230G>C (p.Ala410=) c.1191G>C (p.Ala397=) c.1494G>C (p.Ala498=) c.1341G>C (p.Ala447=) | gnomAD v4 |
8 | g.143728288C>T | CA463520042 | FAM83H | c.1173G>A (p.Ala391=) c.1776G>A (p.Ala592=) c.353G>A c.1230G>A (p.Ala410=) c.1191G>A (p.Ala397=) c.1494G>A (p.Ala498=) c.1341G>A (p.Ala447=) | dbSNP gnomAD v4 |
8 | g.143728289_143728306dup | CA848794734 | FAM83H | c.1156_1173dup (p.Ala391_Gly392insProAlaGlyGluLeuAla) c.1759_1776dup (p.Ala592_Gly593insProAlaGlyGluLeuAla) c.336_353dup c.1213_1230dup (p.Ala410_Gly411insProAlaGlyGluLeuAla) c.1174_1191dup (p.Ala397_Gly398insProAlaGlyGluLeuAla) c.1477_1494dup (p.Ala498_Gly499insProAlaGlyGluLeuAla) c.1324_1341dup (p.Ala447_Gly448insProAlaGlyGluLeuAla) | dbSNP gnomAD v4 |
8 | g.143728289G>A | CA372468302 | FAM83H | c.1172C>T (p.Ala391Val) c.1775C>T (p.Ala592Val) c.352C>T c.1229C>T (p.Ala410Val) c.1190C>T (p.Ala397Val) c.1493C>T (p.Ala498Val) c.1340C>T (p.Ala447Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.143728289G>C | CA4917512 | FAM83H | c.1172C>G (p.Ala391Gly) c.1775C>G (p.Ala592Gly) c.352C>G c.1229C>G (p.Ala410Gly) c.1190C>G (p.Ala397Gly) c.1493C>G (p.Ala498Gly) c.1340C>G (p.Ala447Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.143728289G= | CA1825940673 | FAM83H | c.1172C= (p.Ala391=) c.1775C= (p.Ala592=) c.352C= c.1229C= (p.Ala410=) c.1190C= (p.Ala397=) c.1493C= (p.Ala498=) c.1340C= (p.Ala447=) | |
8 | g.143728289G>T | CA372468305 | FAM83H | c.1172C>A (p.Ala391Glu) c.1775C>A (p.Ala592Glu) c.352C>A c.1229C>A (p.Ala410Glu) c.1190C>A (p.Ala397Glu) c.1493C>A (p.Ala498Glu) c.1340C>A (p.Ala447Glu) | gnomAD v4 |
8 | g.143728290C>A | CA372468307 | FAM83H | c.1171G>T (p.Ala391Ser) c.1774G>T (p.Ala592Ser) c.351G>T c.1228G>T (p.Ala410Ser) c.1189G>T (p.Ala397Ser) c.1492G>T (p.Ala498Ser) c.1339G>T (p.Ala447Ser) | gnomAD v4 |
8 | g.143728290C>G | CA372468310 | FAM83H | c.1171G>C (p.Ala391Pro) c.1774G>C (p.Ala592Pro) c.351G>C c.1228G>C (p.Ala410Pro) c.1189G>C (p.Ala397Pro) c.1492G>C (p.Ala498Pro) c.1339G>C (p.Ala447Pro) | |
8 | g.143728290C>T | CA372468312 | FAM83H | c.1171G>A (p.Ala391Thr) c.1774G>A (p.Ala592Thr) c.351G>A c.1228G>A (p.Ala410Thr) c.1189G>A (p.Ala397Thr) c.1492G>A (p.Ala498Thr) c.1339G>A (p.Ala447Thr) | gnomAD v4 |
8 | g.143728291G>A | CA463520052 | FAM83H | c.1170C>T (p.Leu390=) c.1773C>T (p.Leu591=) c.350C>T c.1227C>T (p.Leu409=) c.1188C>T (p.Leu396=) c.1491C>T (p.Leu497=) c.1338C>T (p.Leu446=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.143728291G>C | CA463520053 | FAM83H | c.1170C>G (p.Leu390=) c.1773C>G (p.Leu591=) c.350C>G c.1227C>G (p.Leu409=) c.1188C>G (p.Leu396=) c.1491C>G (p.Leu497=) c.1338C>G (p.Leu446=) | |
8 | g.143728291G= | CA1825940674 | FAM83H | c.1170C= (p.Leu390=) c.1773C= (p.Leu591=) c.350C= c.1227C= (p.Leu409=) c.1188C= (p.Leu396=) c.1491C= (p.Leu497=) c.1338C= (p.Leu446=) | |
8 | g.143728291G>T | CA463520054 | FAM83H | c.1170C>A (p.Leu390=) c.1773C>A (p.Leu591=) c.350C>A c.1227C>A (p.Leu409=) c.1188C>A (p.Leu396=) c.1491C>A (p.Leu497=) c.1338C>A (p.Leu446=) | |
8 | g.143728292A>C | CA372468313 | FAM83H | c.1169T>G (p.Leu390Arg) c.1772T>G (p.Leu591Arg) c.349T>G c.1226T>G (p.Leu409Arg) c.1187T>G (p.Leu396Arg) c.1490T>G (p.Leu497Arg) c.1337T>G (p.Leu446Arg) | |
8 | g.143728292A>G | CA372468314 | FAM83H | c.1169T>C (p.Leu390Pro) c.1772T>C (p.Leu591Pro) c.349T>C c.1226T>C (p.Leu409Pro) c.1187T>C (p.Leu396Pro) c.1490T>C (p.Leu497Pro) c.1337T>C (p.Leu446Pro) | |
8 | g.143728292A>T | CA372468315 | FAM83H | c.1169T>A (p.Leu390His) c.1772T>A (p.Leu591His) c.349T>A c.1226T>A (p.Leu409His) c.1187T>A (p.Leu396His) c.1490T>A (p.Leu497His) c.1337T>A (p.Leu446His) | gnomAD v4 |
8 | g.143728293G>A | CA372468316 | FAM83H | c.1168C>T (p.Leu390Phe) c.1771C>T (p.Leu591Phe) c.348C>T c.1225C>T (p.Leu409Phe) c.1186C>T (p.Leu396Phe) c.1489C>T (p.Leu497Phe) c.1336C>T (p.Leu446Phe) | dbSNP gnomAD v4 |
8 | g.143728293G>C | CA372468318 | FAM83H | c.1168C>G (p.Leu390Val) c.1771C>G (p.Leu591Val) c.348C>G c.1225C>G (p.Leu409Val) c.1186C>G (p.Leu396Val) c.1489C>G (p.Leu497Val) c.1336C>G (p.Leu446Val) | |
8 | g.143728293G= | CA1825940675 | FAM83H | c.1168C= (p.Leu390=) c.1771C= (p.Leu591=) c.348C= c.1225C= (p.Leu409=) c.1186C= (p.Leu396=) c.1489C= (p.Leu497=) c.1336C= (p.Leu446=) | |
8 | g.143728293G>T | CA372468319 | FAM83H | c.1168C>A (p.Leu390Ile) c.1771C>A (p.Leu591Ile) c.348C>A c.1225C>A (p.Leu409Ile) c.1186C>A (p.Leu396Ile) c.1489C>A (p.Leu497Ile) c.1336C>A (p.Leu446Ile) | |
8 | g.143728294C>A | CA372468320 | FAM83H | c.1167G>T (p.Glu389Asp) c.1770G>T (p.Glu590Asp) c.347G>T c.1224G>T (p.Glu408Asp) c.1185G>T (p.Glu395Asp) c.1488G>T (p.Glu496Asp) c.1335G>T (p.Glu445Asp) | gnomAD v4 |
8 | g.143728294C= | CA1825940676 | FAM83H | c.1167G= (p.Glu389=) c.1770G= (p.Glu590=) c.347G= c.1224G= (p.Glu408=) c.1185G= (p.Glu395=) c.1488G= (p.Glu496=) c.1335G= (p.Glu445=) | |
8 | g.143728294C>G | CA372468324 | FAM83H | c.1167G>C (p.Glu389Asp) c.1770G>C (p.Glu590Asp) c.347G>C c.1224G>C (p.Glu408Asp) c.1185G>C (p.Glu395Asp) c.1488G>C (p.Glu496Asp) c.1335G>C (p.Glu445Asp) | |
8 | g.143728294C>T | CA463520057 | FAM83H | c.1167G>A (p.Glu389=) c.1770G>A (p.Glu590=) c.347G>A c.1224G>A (p.Glu408=) c.1185G>A (p.Glu395=) c.1488G>A (p.Glu496=) c.1335G>A (p.Glu445=) | dbSNP gnomAD v4 |
8 | g.143728295T>A | CA372468331 | FAM83H | c.1166A>T (p.Glu389Val) c.1769A>T (p.Glu590Val) c.346A>T c.1223A>T (p.Glu408Val) c.1184A>T (p.Glu395Val) c.1487A>T (p.Glu496Val) c.1334A>T (p.Glu445Val) | |
8 | g.143728295T>C | CA372468328 | FAM83H | c.1166A>G (p.Glu389Gly) c.1769A>G (p.Glu590Gly) c.346A>G c.1223A>G (p.Glu408Gly) c.1184A>G (p.Glu395Gly) c.1487A>G (p.Glu496Gly) c.1334A>G (p.Glu445Gly) | dbSNP gnomAD v4 |
8 | g.143728295T>G | CA372468326 | FAM83H | c.1166A>C (p.Glu389Ala) c.1769A>C (p.Glu590Ala) c.346A>C c.1223A>C (p.Glu408Ala) c.1184A>C (p.Glu395Ala) c.1487A>C (p.Glu496Ala) c.1334A>C (p.Glu445Ala) | |
8 | g.143728295T= | CA1825940677 | FAM83H | c.1166A= (p.Glu389=) c.1769A= (p.Glu590=) c.346A= c.1223A= (p.Glu408=) c.1184A= (p.Glu395=) c.1487A= (p.Glu496=) c.1334A= (p.Glu445=) |