Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.143728196_143728228dupCA2688980693FAM83Hc.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
8g.143728195G>ACA463519717FAM83Hc.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
8g.143728195G>CCA372467797FAM83Hc.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)
8g.143728195G=CA1825940614FAM83Hc.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=)
8g.143728195G>TCA372467799FAM83Hc.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
8g.143728196T>ACA372467801FAM83Hc.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)
8g.143728196T>CCA4917494FAM83Hc.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
8g.143728196T>GCA372467803FAM83Hc.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)
8g.143728196T=CA1825940615FAM83Hc.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=)
8g.143728197T>ACA372467806FAM83Hc.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)
8g.143728197T>CCA372467808FAM83Hc.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)
8g.143728197T>GCA372467810FAM83Hc.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)
8g.143728198C>ACA372467813FAM83Hc.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)
8g.143728198C>GCA372467815FAM83Hc.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)
8g.143728198C>TCA463519724FAM83Hc.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=)
8g.143728199T>ACA372467816FAM83Hc.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)
8g.143728199T>CCA372467818FAM83Hc.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)
8g.143728199T>GCA372467820FAM83Hc.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
8g.143728199T=CA1825940616FAM83Hc.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=)
8g.143728200C>ACA372467825FAM83Hc.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
8g.143728200C=CA1825940617FAM83Hc.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=)
8g.143728200C>GCA372467827FAM83Hc.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
8g.143728200C>TCA372467823FAM83Hc.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
8g.143728201C>ACA463519742FAM83Hc.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=)
8g.143728201C>GCA463519736FAM83Hc.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=)
8g.143728201C>TCA463519740FAM83Hc.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
8g.143728202A>CCA372467828FAM83Hc.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)
8g.143728202A>GCA372467831FAM83Hc.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)
8g.143728202A>TCA372467833FAM83Hc.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)
8g.143728203C>ACA372467835FAM83Hc.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)
8g.143728203C=CA1825940618FAM83Hc.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=)
8g.143728203C>GCA372467838FAM83Hc.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)
8g.143728203C>TCA372467840FAM83Hc.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
8g.143728204G>ACA4917495FAM83Hc.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
8g.143728204G>CCA463519750FAM83Hc.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
8g.143728204G=CA1825940619FAM83Hc.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=)
8g.143728204G>TCA4917497FAM83Hc.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
8g.143728204_143728210delinsGGCGCCCCA1825940620FAM83Hc.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=)
8g.143728205G>ACA372467845FAM83Hc.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)
8g.143728205G>CCA372467846FAM83Hc.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
8g.143728205G>TCA372467848FAM83Hc.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)
8g.143728211_143728216dupCA848794518FAM83Hc.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
8g.143728211_143728216delCA4917496FAM83Hc.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
8g.143728214_143728291delCA1120207102FAM83Hc.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
8g.143728206C>ACA4917498FAM83Hc.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
8g.143728206C=CA1825940621FAM83Hc.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=)
8g.143728206C>GCA372467850FAM83Hc.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)
8g.143728206C>TCA372467852FAM83Hc.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
8g.143728207G>ACA4917499FAM83Hc.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
8g.143728207G>CCA463519755FAM83Hc.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=)
8g.143728207G=CA1825940622FAM83Hc.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=)
8g.143728207G>TCA463519757FAM83Hc.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
8g.143728208C>ACA372467857FAM83Hc.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)
8g.143728208C>GCA372467859FAM83Hc.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)
8g.143728208C>TCA372467861FAM83Hc.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
8g.143728210dupCA2740991149FAM83Hc.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?)
8g.143728209C>ACA372467863FAM83Hc.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)
8g.143728209C=CA1825940623FAM83Hc.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=)
8g.143728209C>GCA372467864FAM83Hc.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)
8g.143728209C>TCA372467865FAM83Hc.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
8g.143728211_143728249delCA2718601135FAM83Hc.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
8g.143728210C>ACA463519772FAM83Hc.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=)
8g.143728210C=CA1825940624FAM83Hc.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=)
8g.143728210C>GCA463519773FAM83Hc.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
8g.143728210C>TCA463519769FAM83Hc.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
8g.143728211G>ACA372467866FAM83Hc.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
8g.143728211G>CCA372467868FAM83Hc.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)
8g.143728211G>TCA372467870FAM83Hc.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
8g.143728212C>ACA372467873FAM83Hc.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)
8g.143728212C=CA1825940625FAM83Hc.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=)
8g.143728212C>GCA372467876FAM83Hc.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)
8g.143728212C>TCA4917500FAM83Hc.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
8g.143728213G>ACA463519783FAM83Hc.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
8g.143728213G>CCA463519782FAM83Hc.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=)
8g.143728213G=CA1825940626FAM83Hc.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=)
8g.143728213G>TCA463519785FAM83Hc.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
8g.143728214C>ACA372467888FAM83Hc.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)
8g.143728214C>GCA372467886FAM83Hc.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)
8g.143728214C>TCA372467883FAM83Hc.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
8g.143728215C>ACA372467892FAM83Hc.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)
8g.143728215C=CA1825940627FAM83Hc.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=)
8g.143728215C>GCA372467894FAM83Hc.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)
8g.143728215C>TCA4917501FAM83Hc.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
8g.143728216C>ACA372467895FAM83Hc.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
8g.143728216C=CA1825940628FAM83Hc.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=)
8g.143728216C>GCA372467896FAM83Hc.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
8g.143728216C>TCA463519795FAM83Hc.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=)
8g.143728217T>ACA372467897FAM83Hc.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)
8g.143728217T>CCA372467898FAM83Hc.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)
8g.143728217T>GCA372467899FAM83Hc.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)
8g.143728218C>ACA114495FAM83Hc.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
8g.143728218C=CA1825940629FAM83Hc.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=)
8g.143728218C>GCA372467903FAM83Hc.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)
8g.143728218C>TCA4917502FAM83Hc.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
8g.143728219G>ACA463519803FAM83Hc.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
8g.143728219G>CCA463519804FAM83Hc.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
8g.143728219G=CA1825940630FAM83Hc.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=)
8g.143728219G>TCA463519805FAM83Hc.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
8g.143728220G>ACA372467904FAM83Hc.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
8g.143728220G>CCA372467907FAM83Hc.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
8g.143728220G>TCA372467910FAM83Hc.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
8g.143728220_143728221insCCGCA2564990654FAM83Hc.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)
8g.143728221delCA2688980726FAM83Hc.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
8g.143728221T>ACA372467915FAM83Hc.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)
8g.143728221T>CCA372467913FAM83Hc.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)
8g.143728221T>GCA372467912FAM83Hc.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)
8g.143728222C>ACA463519813FAM83Hc.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
8g.143728222C=CA1825940631FAM83Hc.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=)
8g.143728222C>GCA463519814FAM83Hc.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=)
8g.143728222C>TCA4917503FAM83Hc.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
8g.143728223G>ACA372467918FAM83Hc.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
8g.143728223G>CCA372467920FAM83Hc.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)
8g.143728223G>TCA372467922FAM83Hc.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
8g.143728224C>ACA372467931FAM83Hc.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)
8g.143728224C=CA1825940632FAM83Hc.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=)
8g.143728224C>GCA372467933FAM83Hc.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
8g.143728224C>TCA372467934FAM83Hc.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
8g.143728225G>ACA463519818FAM83Hc.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
8g.143728225G>CCA372467938FAM83Hc.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)
8g.143728225G=CA1825940633FAM83Hc.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=)
8g.143728225G>TCA372467939FAM83Hc.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
8g.143728226A>CCA372467941FAM83Hc.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)
8g.143728226A>GCA372467943FAM83Hc.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)
8g.143728226A>TCA372467947FAM83Hc.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)
8g.143728227A>CCA372467954FAM83Hc.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)
8g.143728227A>GCA372467952FAM83Hc.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
8g.143728227A>TCA372467950FAM83Hc.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)
8g.143728228G>ACA463519827FAM83Hc.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
8g.143728228G>CCA372467957FAM83Hc.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)
8g.143728228G>TCA372467960FAM83Hc.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
8g.143728229C>ACA372467964FAM83Hc.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)
8g.143728229C>GCA372467966FAM83Hc.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)
8g.143728229C>TCA372467967FAM83Hc.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
8g.143728230T>ACA372467970FAM83Hc.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)
8g.143728230T>CCA372467971FAM83Hc.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
8g.143728230T>GCA372467972FAM83Hc.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)
8g.143728231G>ACA463519833FAM83Hc.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
8g.143728231G>CCA372467974FAM83Hc.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)
8g.143728231G>TCA372467976FAM83Hc.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)
8g.143728232T>ACA372467979FAM83Hc.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)
8g.143728232T>CCA372467985FAM83Hc.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)
8g.143728232T>GCA372467988FAM83Hc.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
8g.143728233G>ACA4917504FAM83Hc.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
8g.143728233G>CCA372467990FAM83Hc.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)
8g.143728233G=CA1825940634FAM83Hc.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=)
8g.143728233G>TCA4917505FAM83Hc.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
8g.143728234C>ACA463519839FAM83Hc.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=)
8g.143728234C=CA1825940635FAM83Hc.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=)
8g.143728234C>GCA463519841FAM83Hc.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=)
8g.143728234C>TCA187605428FAM83Hc.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
8g.143728235C>ACA372467999FAM83Hc.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
8g.143728235C=CA1825940636FAM83Hc.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=)
8g.143728235C>GCA372468001FAM83Hc.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
8g.143728235C>TCA372468003FAM83Hc.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
8g.143728236G>ACA4917506FAM83Hc.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
8g.143728236G>CCA372468006FAM83Hc.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)
8g.143728236G=CA1825940637FAM83Hc.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=)
8g.143728236G>TCA463519848FAM83Hc.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
8g.143728237C>ACA372468008FAM83Hc.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)
8g.143728237C>GCA372468011FAM83Hc.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)
8g.143728237C>TCA463519849FAM83Hc.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=)
8g.143728238T>ACA372468014FAM83Hc.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)
8g.143728238T>CCA372468015FAM83Hc.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)
8g.143728238T>GCA372468020FAM83Hc.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)
8g.143728239T>ACA372468026FAM83Hc.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)
8g.143728239T>CCA372468024FAM83Hc.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
8g.143728239T>GCA372468022FAM83Hc.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
8g.143728239T=CA1825940638FAM83Hc.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=)
8g.143728240G>ACA463519859FAM83Hc.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
8g.143728240G>CCA372468027FAM83Hc.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)
8g.143728240G=CA1825940639FAM83Hc.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=)
8g.143728240G>TCA372468031FAM83Hc.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
8g.143728241A=CA1825940640FAM83Hc.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=)
8g.143728241A>CCA4917507FAM83Hc.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
8g.143728241A>GCA372468037FAM83Hc.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
8g.143728241A>TCA372468036FAM83Hc.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)
8g.143728242delCA2688980741FAM83Hc.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
8g.143728242A>CCA372468040FAM83Hc.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)
8g.143728242A>GCA372468043FAM83Hc.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)
8g.143728242A>TCA372468046FAM83Hc.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
8g.143728243G>ACA463519870FAM83Hc.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=)
8g.143728243G>CCA463519869FAM83Hc.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=)
8g.143728243G>TCA463519865FAM83Hc.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
8g.143728244G>ACA372468048FAM83Hc.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
8g.143728244G>CCA372468049FAM83Hc.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)
8g.143728244G=CA1825940641FAM83Hc.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=)
8g.143728244G>TCA372468052FAM83Hc.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
8g.143728245C>ACA372468054FAM83Hc.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
8g.143728245C=CA1825940642FAM83Hc.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=)
8g.143728245C>GCA372468055FAM83Hc.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)
8g.143728245C>TCA372468059FAM83Hc.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
8g.143728246G>ACA463519877FAM83Hc.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
8g.143728246G>CCA372468061FAM83Hc.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)
8g.143728246G>TCA372468065FAM83Hc.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
8g.143728247T>ACA372468073FAM83Hc.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)
8g.143728247T>CCA372468072FAM83Hc.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
8g.143728247T>GCA372468069FAM83Hc.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)
8g.143728247T=CA1825940643FAM83Hc.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=)
8g.143728248C>ACA372468078FAM83Hc.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)
8g.143728248C=CA1825940644FAM83Hc.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=)
8g.143728248C>GCA372468080FAM83Hc.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)
8g.143728248C>TCA372468082FAM83Hc.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
8g.143728249C>ACA372468084FAM83Hc.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
8g.143728249C=CA1825940645FAM83Hc.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=)
8g.143728249C>GCA372468087FAM83Hc.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)
8g.143728249C>TCA372468088FAM83Hc.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
8g.143728250A>CCA372468091FAM83Hc.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)
8g.143728250A>GCA372468098FAM83Hc.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)
8g.143728250A>TCA372468101FAM83Hc.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)
8g.143728251T>ACA372468105FAM83Hc.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)
8g.143728251T>CCA372468107FAM83Hc.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
8g.143728251T>GCA372468110FAM83Hc.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)
8g.143728251T=CA1825940646FAM83Hc.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=)
8g.143728252C>ACA372468113FAM83Hc.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
8g.143728252C=CA1825940647FAM83Hc.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=)
8g.143728252C>GCA372468115FAM83Hc.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
8g.143728252C>TCA463519899FAM83Hc.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=)
8g.143728253T>ACA372468120FAM83Hc.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)
8g.143728253T>CCA372468122FAM83Hc.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
8g.143728253T>GCA372468124FAM83Hc.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)
8g.143728254C>ACA372468126FAM83Hc.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
8g.143728254C=CA1825940648FAM83Hc.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=)
8g.143728254C>GCA372468129FAM83Hc.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)
8g.143728254C>TCA372468130FAM83Hc.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
8g.143728255C>ACA463519913FAM83Hc.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
8g.143728255C=CA1825940649FAM83Hc.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=)
8g.143728255C>GCA463519911FAM83Hc.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
8g.143728255C>TCA463519910FAM83Hc.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=)
8g.143728256A>CCA372468138FAM83Hc.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
8g.143728256A>GCA372468133FAM83Hc.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
8g.143728256A>TCA372468136FAM83Hc.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)
8g.143728257G>ACA463519922FAM83Hc.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=)
8g.143728257G>CCA372468141FAM83Hc.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
8g.143728257G>TCA372468143FAM83Hc.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
8g.143728258G>ACA4917508FAM83Hc.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
8g.143728258G>CCA372468149FAM83Hc.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)
8g.143728258G=CA1825940650FAM83Hc.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=)
8g.143728258G>TCA372468151FAM83Hc.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
8g.143728259T>ACA372468154FAM83Hc.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)
8g.143728259T>CCA372468160FAM83Hc.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)
8g.143728259T>GCA372468157FAM83Hc.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)
8g.143728260G>ACA372468162FAM83Hc.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
8g.143728260G>CCA372468164FAM83Hc.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)
8g.143728260G>TCA372468166FAM83Hc.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
8g.143728266_143728331delCA1120207142FAM83Hc.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
8g.143728261C>ACA463519937FAM83Hc.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=)
8g.143728261C>GCA463519938FAM83Hc.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=)
8g.143728261C>TCA463519935FAM83Hc.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
8g.143728262C>ACA372468168FAM83Hc.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
8g.143728262C=CA1825940651FAM83Hc.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=)
8g.143728262C>GCA372468169FAM83Hc.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)
8g.143728262C>TCA4917509FAM83Hc.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
8g.143728263G>ACA372468179FAM83Hc.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
8g.143728263G>CCA372468181FAM83Hc.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)
8g.143728263G=CA1825940652FAM83Hc.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=)
8g.143728263G>TCA463519949FAM83Hc.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
8g.143728263_143728264delinsGCCA1825940653FAM83Hc.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=)
8g.143728264delCA1825940654FAM83Hc.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
8g.143728264C>ACA463519960FAM83Hc.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
8g.143728264C=CA1825940655FAM83Hc.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=)
8g.143728264C>GCA463519958FAM83Hc.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
8g.143728264C>TCA463519955FAM83Hc.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
8g.143728265G>ACA372468184FAM83Hc.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
8g.143728265G>CCA372468187FAM83Hc.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
8g.143728265G=CA1825940656FAM83Hc.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=)
8g.143728265G>TCA372468189FAM83Hc.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
8g.143728266C>ACA372468192FAM83Hc.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
8g.143728266C>GCA372468191FAM83Hc.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)
8g.143728266C>TCA372468190FAM83Hc.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
8g.143728267C>ACA372468196FAM83Hc.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
8g.143728267C>GCA372468193FAM83Hc.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)
8g.143728267C>TCA463519964FAM83Hc.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=)
8g.143728268T>ACA372468198FAM83Hc.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)
8g.143728268T>CCA372468202FAM83Hc.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
8g.143728268T>GCA372468204FAM83Hc.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)
8g.143728268_143728269delinsTGCA1825940657FAM83Hc.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=)
8g.143728269G>ACA114493FAM83Hc.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
8g.143728269G>CCA372468207FAM83Hc.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)
8g.143728269G=CA1825940658FAM83Hc.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=)
8g.143728269G>TCA372468209FAM83Hc.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
8g.143728270delCA1120207161FAM83Hc.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
8g.143728270G>ACA463519969FAM83Hc.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=)
8g.143728270G>CCA372468214FAM83Hc.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
8g.143728270G>TCA372468217FAM83Hc.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)
8g.143728271A>CCA372468220FAM83Hc.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)
8g.143728271A>GCA372468223FAM83Hc.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
8g.143728271A>TCA372468225FAM83Hc.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)
8g.143728272A>CCA372468227FAM83Hc.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)
8g.143728272A>GCA372468229FAM83Hc.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
8g.143728272A>TCA372468232FAM83Hc.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)
8g.143728273G>ACA463519981FAM83Hc.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
8g.143728273G>CCA372468234FAM83Hc.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)
8g.143728273G=CA1825940659FAM83Hc.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=)
8g.143728273G>TCA372468236FAM83Hc.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
8g.143728274A=CA1825940660FAM83Hc.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=)
8g.143728274A>CCA372468238FAM83Hc.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
8g.143728274A>GCA372468241FAM83Hc.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)
8g.143728274A>TCA372468244FAM83Hc.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
8g.143728275delCA2688980783FAM83Hc.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
8g.143728275A=CA1825940661FAM83Hc.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=)
8g.143728275A>CCA372468245FAM83Hc.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
8g.143728275A>GCA372468246FAM83Hc.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
8g.143728275A>TCA372468247FAM83Hc.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
8g.143728276G>ACA4917510FAM83Hc.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
8g.143728276G>CCA463519991FAM83Hc.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=)
8g.143728276G=CA1825940662FAM83Hc.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=)
8g.143728276G>TCA463519993FAM83Hc.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
8g.143728277C>ACA372468251FAM83Hc.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
8g.143728277C=CA1825940663FAM83Hc.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=)
8g.143728277C>GCA372468253FAM83Hc.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
8g.143728277C>TCA372468254FAM83Hc.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
8g.143728280delCA2688980791FAM83Hc.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
8g.143728278C>ACA372468257FAM83Hc.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
8g.143728278C>GCA372468260FAM83Hc.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)
8g.143728278C>TCA372468262FAM83Hc.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)
8g.143728279C>ACA463519997FAM83Hc.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=)
8g.143728279C=CA1825940664FAM83Hc.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=)
8g.143728279C>GCA463520001FAM83Hc.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
8g.143728279C>TCA463520003FAM83Hc.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
8g.143728280C>ACA372468266FAM83Hc.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
8g.143728280C=CA1825940665FAM83Hc.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=)
8g.143728280C>GCA372468270FAM83Hc.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)
8g.143728280C>TCA372468268FAM83Hc.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
8g.143728281G>ACA372468273FAM83Hc.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
8g.143728281G>CCA372468276FAM83Hc.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)
8g.143728281G=CA1825940666FAM83Hc.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=)
8g.143728281G>TCA463520011FAM83Hc.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
8g.143728282C>ACA463520013FAM83Hc.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
8g.143728282C=CA1825940667FAM83Hc.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=)
8g.143728282C>GCA463520014FAM83Hc.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
8g.143728282C>TCA463520016FAM83Hc.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
8g.143728283G>ACA372468279FAM83Hc.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
8g.143728283G>CCA372468280FAM83Hc.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)
8g.143728283G>TCA372468282FAM83Hc.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
8g.143728284C>ACA372468289FAM83Hc.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
8g.143728284C=CA1825940668FAM83Hc.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=)
8g.143728284C>GCA372468286FAM83Hc.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)
8g.143728284C>TCA372468285FAM83Hc.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
8g.143728285G>ACA463520030FAM83Hc.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
8g.143728285G>CCA463520034FAM83Hc.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
8g.143728285G=CA1825940669FAM83Hc.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=)
8g.143728285G>TCA463520035FAM83Hc.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
8g.143728286C>ACA372468292FAM83Hc.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
8g.143728286C=CA1825940670FAM83Hc.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=)
8g.143728286C>GCA372468294FAM83Hc.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
8g.143728286C>TCA4917511FAM83Hc.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
8g.143728287C>ACA372468296FAM83Hc.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
8g.143728287C=CA1825940671FAM83Hc.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=)
8g.143728287C>GCA372468298FAM83Hc.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)
8g.143728287C>TCA372468299FAM83Hc.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)
8g.143728288C>ACA463520040FAM83Hc.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
8g.143728288C=CA1825940672FAM83Hc.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=)
8g.143728288C>GCA463520043FAM83Hc.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
8g.143728288C>TCA463520042FAM83Hc.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
8g.143728289_143728306dupCA848794734FAM83Hc.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
8g.143728289G>ACA372468302FAM83Hc.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
8g.143728289G>CCA4917512FAM83Hc.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
8g.143728289G=CA1825940673FAM83Hc.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=)
8g.143728289G>TCA372468305FAM83Hc.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
8g.143728290C>ACA372468307FAM83Hc.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
8g.143728290C>GCA372468310FAM83Hc.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)
8g.143728290C>TCA372468312FAM83Hc.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
8g.143728291G>ACA463520052FAM83Hc.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
8g.143728291G>CCA463520053FAM83Hc.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=)
8g.143728291G=CA1825940674FAM83Hc.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=)
8g.143728291G>TCA463520054FAM83Hc.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=)
8g.143728292A>CCA372468313FAM83Hc.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)
8g.143728292A>GCA372468314FAM83Hc.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)
8g.143728292A>TCA372468315FAM83Hc.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
8g.143728293G>ACA372468316FAM83Hc.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
8g.143728293G>CCA372468318FAM83Hc.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)
8g.143728293G=CA1825940675FAM83Hc.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=)
8g.143728293G>TCA372468319FAM83Hc.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)
8g.143728294C>ACA372468320FAM83Hc.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
8g.143728294C=CA1825940676FAM83Hc.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=)
8g.143728294C>GCA372468324FAM83Hc.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)
8g.143728294C>TCA463520057FAM83Hc.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
8g.143728295T>ACA372468331FAM83Hc.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)
8g.143728295T>CCA372468328FAM83Hc.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
8g.143728295T>GCA372468326FAM83Hc.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)
8g.143728295T=CA1825940677FAM83Hc.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=)

Number of alleles fetched