Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.143728423_143728428delCA1825940763FAM83Hc.1037_1042del (p.Pro346_Asp347del)
c.1640_1645del (p.Pro547_Asp548del)
c.217_222del
c.1094_1099del (p.Pro365_Asp366del)
c.1055_1060del (p.Pro352_Asp353del)
c.1358_1363del (p.Pro453_Asp454del)
c.1205_1210del (p.Pro402_Asp403del)
dbSNP
8g.143728423_143728431delCA2688981099FAM83Hc.1030_1038del (p.Leu344_Pro346del)
c.1633_1641del (p.Leu545_Pro547del)
c.210_218del
c.1087_1095del (p.Leu363_Pro365del)
c.1048_1056del (p.Leu350_Pro352del)
c.1351_1359del (p.Leu451_Pro453del)
c.1198_1206del (p.Leu400_Pro402del)
gnomAD v4
8g.143728428C>ACA372468798FAM83Hc.1033G>T (p.Asp345Tyr)
c.1636G>T (p.Asp546Tyr)
c.213G>T
c.1090G>T (p.Asp364Tyr)
c.1051G>T (p.Asp351Tyr)
c.1354G>T (p.Asp452Tyr)
c.1201G>T (p.Asp401Tyr)
dbSNP gnomAD v4
8g.143728428C=CA1825940770FAM83Hc.1033G= (p.Asp345=)
c.1636G= (p.Asp546=)
c.213G=
c.1090G= (p.Asp364=)
c.1051G= (p.Asp351=)
c.1354G= (p.Asp452=)
c.1201G= (p.Asp401=)
8g.143728428C>GCA372468799FAM83Hc.1033G>C (p.Asp345His)
c.1636G>C (p.Asp546His)
c.213G>C
c.1090G>C (p.Asp364His)
c.1051G>C (p.Asp351His)
c.1354G>C (p.Asp452His)
c.1201G>C (p.Asp401His)
8g.143728428C>TCA372468800FAM83Hc.1033G>A (p.Asp345Asn)
c.1636G>A (p.Asp546Asn)
c.213G>A
c.1090G>A (p.Asp364Asn)
c.1051G>A (p.Asp351Asn)
c.1354G>A (p.Asp452Asn)
c.1201G>A (p.Asp401Asn)
dbSNP gnomAD v3 gnomAD v4
8g.143728429G>ACA463519658FAM83Hc.1032C>T (p.Leu344=)
c.1635C>T (p.Leu545=)
c.212C>T
c.1089C>T (p.Leu363=)
c.1050C>T (p.Leu350=)
c.1353C>T (p.Leu451=)
c.1200C>T (p.Leu400=)
gnomAD v4
8g.143728429G>CCA463519659FAM83Hc.1032C>G (p.Leu344=)
c.1635C>G (p.Leu545=)
c.212C>G
c.1089C>G (p.Leu363=)
c.1050C>G (p.Leu350=)
c.1353C>G (p.Leu451=)
c.1200C>G (p.Leu400=)
8g.143728429G=CA1825940771FAM83Hc.1032C= (p.Leu344=)
c.1635C= (p.Leu545=)
c.212C=
c.1089C= (p.Leu363=)
c.1050C= (p.Leu350=)
c.1353C= (p.Leu451=)
c.1200C= (p.Leu400=)
8g.143728429G>TCA463519660FAM83Hc.1032C>A (p.Leu344=)
c.1635C>A (p.Leu545=)
c.212C>A
c.1089C>A (p.Leu363=)
c.1050C>A (p.Leu350=)
c.1353C>A (p.Leu451=)
c.1200C>A (p.Leu400=)
dbSNP gnomAD v2 gnomAD v4 COSMIC
8g.143728430A>CCA372468803FAM83Hc.1031T>G (p.Leu344Arg)
c.1634T>G (p.Leu545Arg)
c.211T>G
c.1088T>G (p.Leu363Arg)
c.1049T>G (p.Leu350Arg)
c.1352T>G (p.Leu451Arg)
c.1199T>G (p.Leu400Arg)
8g.143728430A>GCA372468804FAM83Hc.1031T>C (p.Leu344Pro)
c.1634T>C (p.Leu545Pro)
c.211T>C
c.1088T>C (p.Leu363Pro)
c.1049T>C (p.Leu350Pro)
c.1352T>C (p.Leu451Pro)
c.1199T>C (p.Leu400Pro)
gnomAD v4
8g.143728430A>TCA372468806FAM83Hc.1031T>A (p.Leu344His)
c.1634T>A (p.Leu545His)
c.211T>A
c.1088T>A (p.Leu363His)
c.1049T>A (p.Leu350His)
c.1352T>A (p.Leu451His)
c.1199T>A (p.Leu400His)
8g.143728431G>ACA372468807FAM83Hc.1030C>T (p.Leu344Phe)
c.1633C>T (p.Leu545Phe)
c.210C>T
c.1087C>T (p.Leu363Phe)
c.1048C>T (p.Leu350Phe)
c.1351C>T (p.Leu451Phe)
c.1198C>T (p.Leu400Phe)
ClinVar
8g.143728431G>CCA372468809FAM83Hc.1030C>G (p.Leu344Val)
c.1633C>G (p.Leu545Val)
c.210C>G
c.1087C>G (p.Leu363Val)
c.1048C>G (p.Leu350Val)
c.1351C>G (p.Leu451Val)
c.1198C>G (p.Leu400Val)
8g.143728431G>TCA372468811FAM83Hc.1030C>A (p.Leu344Ile)
c.1633C>A (p.Leu545Ile)
c.210C>A
c.1087C>A (p.Leu363Ile)
c.1048C>A (p.Leu350Ile)
c.1351C>A (p.Leu451Ile)
c.1198C>A (p.Leu400Ile)
gnomAD v4
8g.143728432G>ACA463519661FAM83Hc.1029C>T (p.Phe343=)
c.1632C>T (p.Phe544=)
c.209C>T
c.1086C>T (p.Phe362=)
c.1047C>T (p.Phe349=)
c.1350C>T (p.Phe450=)
c.1197C>T (p.Phe399=)
gnomAD v4
8g.143728432G>CCA372468812FAM83Hc.1029C>G (p.Phe343Leu)
c.1632C>G (p.Phe544Leu)
c.209C>G
c.1086C>G (p.Phe362Leu)
c.1047C>G (p.Phe349Leu)
c.1350C>G (p.Phe450Leu)
c.1197C>G (p.Phe399Leu)
8g.143728432G>TCA372468813FAM83Hc.1029C>A (p.Phe343Leu)
c.1632C>A (p.Phe544Leu)
c.209C>A
c.1086C>A (p.Phe362Leu)
c.1047C>A (p.Phe349Leu)
c.1350C>A (p.Phe450Leu)
c.1197C>A (p.Phe399Leu)
8g.143728433A>CCA372468818FAM83Hc.1028T>G (p.Phe343Cys)
c.1631T>G (p.Phe544Cys)
c.208T>G
c.1085T>G (p.Phe362Cys)
c.1046T>G (p.Phe349Cys)
c.1349T>G (p.Phe450Cys)
c.1196T>G (p.Phe399Cys)
8g.143728433A>GCA372468817FAM83Hc.1028T>C (p.Phe343Ser)
c.1631T>C (p.Phe544Ser)
c.208T>C
c.1085T>C (p.Phe362Ser)
c.1046T>C (p.Phe349Ser)
c.1349T>C (p.Phe450Ser)
c.1196T>C (p.Phe399Ser)
8g.143728433A>TCA372468815FAM83Hc.1028T>A (p.Phe343Tyr)
c.1631T>A (p.Phe544Tyr)
c.208T>A
c.1085T>A (p.Phe362Tyr)
c.1046T>A (p.Phe349Tyr)
c.1349T>A (p.Phe450Tyr)
c.1196T>A (p.Phe399Tyr)
8g.143728434A=CA1825940772FAM83Hc.1027T= (p.Phe343=)
c.1630T= (p.Phe544=)
c.207T=
c.1084T= (p.Phe362=)
c.1045T= (p.Phe349=)
c.1348T= (p.Phe450=)
c.1195T= (p.Phe399=)
8g.143728434A>CCA372468819FAM83Hc.1027T>G (p.Phe343Val)
c.1630T>G (p.Phe544Val)
c.207T>G
c.1084T>G (p.Phe362Val)
c.1045T>G (p.Phe349Val)
c.1348T>G (p.Phe450Val)
c.1195T>G (p.Phe399Val)
8g.143728434A>GCA4917535FAM83Hc.1027T>C (p.Phe343Leu)
c.1630T>C (p.Phe544Leu)
c.207T>C
c.1084T>C (p.Phe362Leu)
c.1045T>C (p.Phe349Leu)
c.1348T>C (p.Phe450Leu)
c.1195T>C (p.Phe399Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.143728434A>TCA372468821FAM83Hc.1027T>A (p.Phe343Ile)
c.1630T>A (p.Phe544Ile)
c.207T>A
c.1084T>A (p.Phe362Ile)
c.1045T>A (p.Phe349Ile)
c.1348T>A (p.Phe450Ile)
c.1195T>A (p.Phe399Ile)
8g.143728435G>ACA463519662FAM83Hc.1026C>T (p.Ser342=)
c.1629C>T (p.Ser543=)
c.206C>T
c.1083C>T (p.Ser361=)
c.1044C>T (p.Ser348=)
c.1347C>T (p.Ser449=)
c.1194C>T (p.Ser398=)
dbSNP gnomAD v4
8g.143728435G>CCA463519663FAM83Hc.1026C>G (p.Ser342=)
c.1629C>G (p.Ser543=)
c.206C>G
c.1083C>G (p.Ser361=)
c.1044C>G (p.Ser348=)
c.1347C>G (p.Ser449=)
c.1194C>G (p.Ser398=)
8g.143728435G=CA1825940773FAM83Hc.1026C= (p.Ser342=)
c.1629C= (p.Ser543=)
c.206C=
c.1083C= (p.Ser361=)
c.1044C= (p.Ser348=)
c.1347C= (p.Ser449=)
c.1194C= (p.Ser398=)
8g.143728435G>TCA463519664FAM83Hc.1026C>A (p.Ser342=)
c.1629C>A (p.Ser543=)
c.206C>A
c.1083C>A (p.Ser361=)
c.1044C>A (p.Ser348=)
c.1347C>A (p.Ser449=)
c.1194C>A (p.Ser398=)
gnomAD v4
8g.143728436G>ACA372468823FAM83Hc.1025C>T (p.Ser342Phe)
c.1628C>T (p.Ser543Phe)
c.205C>T
c.1082C>T (p.Ser361Phe)
c.1043C>T (p.Ser348Phe)
c.1346C>T (p.Ser449Phe)
c.1193C>T (p.Ser398Phe)
dbSNP
8g.143728436G>CCA372468824FAM83Hc.1025C>G (p.Ser342Cys)
c.1628C>G (p.Ser543Cys)
c.205C>G
c.1082C>G (p.Ser361Cys)
c.1043C>G (p.Ser348Cys)
c.1346C>G (p.Ser449Cys)
c.1193C>G (p.Ser398Cys)
8g.143728436G=CA1825940774FAM83Hc.1025C= (p.Ser342=)
c.1628C= (p.Ser543=)
c.205C=
c.1082C= (p.Ser361=)
c.1043C= (p.Ser348=)
c.1346C= (p.Ser449=)
c.1193C= (p.Ser398=)
8g.143728436G>TCA372468826FAM83Hc.1025C>A (p.Ser342Tyr)
c.1628C>A (p.Ser543Tyr)
c.205C>A
c.1082C>A (p.Ser361Tyr)
c.1043C>A (p.Ser348Tyr)
c.1346C>A (p.Ser449Tyr)
c.1193C>A (p.Ser398Tyr)
dbSNP gnomAD v2 gnomAD v4
8g.143728437A>CCA372468827FAM83Hc.1024T>G (p.Ser342Ala)
c.1627T>G (p.Ser543Ala)
c.204T>G
c.1081T>G (p.Ser361Ala)
c.1042T>G (p.Ser348Ala)
c.1345T>G (p.Ser449Ala)
c.1192T>G (p.Ser398Ala)
8g.143728437A>GCA372468829FAM83Hc.1024T>C (p.Ser342Pro)
c.1627T>C (p.Ser543Pro)
c.204T>C
c.1081T>C (p.Ser361Pro)
c.1042T>C (p.Ser348Pro)
c.1345T>C (p.Ser449Pro)
c.1192T>C (p.Ser398Pro)
gnomAD v4
8g.143728437A>TCA372468830FAM83Hc.1024T>A (p.Ser342Thr)
c.1627T>A (p.Ser543Thr)
c.204T>A
c.1081T>A (p.Ser361Thr)
c.1042T>A (p.Ser348Thr)
c.1345T>A (p.Ser449Thr)
c.1192T>A (p.Ser398Thr)
8g.143728438G>ACA187605546FAM83Hc.1023C>T (p.Pro341=)
c.1626C>T (p.Pro542=)
c.203C>T
c.1080C>T (p.Pro360=)
c.1041C>T (p.Pro347=)
c.1344C>T (p.Pro448=)
c.1191C>T (p.Pro397=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.143728438G>CCA463519665FAM83Hc.1023C>G (p.Pro341=)
c.1626C>G (p.Pro542=)
c.203C>G
c.1080C>G (p.Pro360=)
c.1041C>G (p.Pro347=)
c.1344C>G (p.Pro448=)
c.1191C>G (p.Pro397=)
gnomAD v4
8g.143728438G=CA1825940775FAM83Hc.1023C= (p.Pro341=)
c.1626C= (p.Pro542=)
c.203C=
c.1080C= (p.Pro360=)
c.1041C= (p.Pro347=)
c.1344C= (p.Pro448=)
c.1191C= (p.Pro397=)
8g.143728438G>TCA463519666FAM83Hc.1023C>A (p.Pro341=)
c.1626C>A (p.Pro542=)
c.203C>A
c.1080C>A (p.Pro360=)
c.1041C>A (p.Pro347=)
c.1344C>A (p.Pro448=)
c.1191C>A (p.Pro397=)
gnomAD v4
8g.143728439G>ACA4917536FAM83Hc.1022C>T (p.Pro341Leu)
c.1625C>T (p.Pro542Leu)
c.202C>T
c.1079C>T (p.Pro360Leu)
c.1040C>T (p.Pro347Leu)
c.1343C>T (p.Pro448Leu)
c.1190C>T (p.Pro397Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.143728439G>CCA372468831FAM83Hc.1022C>G (p.Pro341Arg)
c.1625C>G (p.Pro542Arg)
c.202C>G
c.1079C>G (p.Pro360Arg)
c.1040C>G (p.Pro347Arg)
c.1343C>G (p.Pro448Arg)
c.1190C>G (p.Pro397Arg)
8g.143728439G=CA1825940776FAM83Hc.1022C= (p.Pro341=)
c.1625C= (p.Pro542=)
c.202C=
c.1079C= (p.Pro360=)
c.1040C= (p.Pro347=)
c.1343C= (p.Pro448=)
c.1190C= (p.Pro397=)
8g.143728439G>TCA372468832FAM83Hc.1022C>A (p.Pro341His)
c.1625C>A (p.Pro542His)
c.202C>A
c.1079C>A (p.Pro360His)
c.1040C>A (p.Pro347His)
c.1343C>A (p.Pro448His)
c.1190C>A (p.Pro397His)
dbSNP gnomAD v4
8g.143728440G>ACA372468837FAM83Hc.1021C>T (p.Pro341Ser)
c.1624C>T (p.Pro542Ser)
c.201C>T
c.1078C>T (p.Pro360Ser)
c.1039C>T (p.Pro347Ser)
c.1342C>T (p.Pro448Ser)
c.1189C>T (p.Pro397Ser)
gnomAD v4
8g.143728440G>CCA4917537FAM83Hc.1021C>G (p.Pro341Ala)
c.1624C>G (p.Pro542Ala)
c.201C>G
c.1078C>G (p.Pro360Ala)
c.1039C>G (p.Pro347Ala)
c.1342C>G (p.Pro448Ala)
c.1189C>G (p.Pro397Ala)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.143728440G=CA1825940777FAM83Hc.1021C= (p.Pro341=)
c.1624C= (p.Pro542=)
c.201C=
c.1078C= (p.Pro360=)
c.1039C= (p.Pro347=)
c.1342C= (p.Pro448=)
c.1189C= (p.Pro397=)
8g.143728440G>TCA372468835FAM83Hc.1021C>A (p.Pro341Thr)
c.1624C>A (p.Pro542Thr)
c.201C>A
c.1078C>A (p.Pro360Thr)
c.1039C>A (p.Pro347Thr)
c.1342C>A (p.Pro448Thr)
c.1189C>A (p.Pro397Thr)
gnomAD v4
8g.143728441G>ACA463519667FAM83Hc.1020C>T (p.Phe340=)
c.1623C>T (p.Phe541=)
c.200C>T
c.1077C>T (p.Phe359=)
c.1038C>T (p.Phe346=)
c.1341C>T (p.Phe447=)
c.1188C>T (p.Phe396=)
gnomAD v4
8g.143728441G>CCA372468838FAM83Hc.1020C>G (p.Phe340Leu)
c.1623C>G (p.Phe541Leu)
c.200C>G
c.1077C>G (p.Phe359Leu)
c.1038C>G (p.Phe346Leu)
c.1341C>G (p.Phe447Leu)
c.1188C>G (p.Phe396Leu)
gnomAD v4
8g.143728441G>TCA372468840FAM83Hc.1020C>A (p.Phe340Leu)
c.1623C>A (p.Phe541Leu)
c.200C>A
c.1077C>A (p.Phe359Leu)
c.1038C>A (p.Phe346Leu)
c.1341C>A (p.Phe447Leu)
c.1188C>A (p.Phe396Leu)
gnomAD v4
8g.143728442A>CCA372468841FAM83Hc.1019T>G (p.Phe340Cys)
c.1622T>G (p.Phe541Cys)
c.199T>G
c.1076T>G (p.Phe359Cys)
c.1037T>G (p.Phe346Cys)
c.1340T>G (p.Phe447Cys)
c.1187T>G (p.Phe396Cys)
8g.143728442A>GCA372468842FAM83Hc.1019T>C (p.Phe340Ser)
c.1622T>C (p.Phe541Ser)
c.199T>C
c.1076T>C (p.Phe359Ser)
c.1037T>C (p.Phe346Ser)
c.1340T>C (p.Phe447Ser)
c.1187T>C (p.Phe396Ser)
8g.143728442A>TCA372468843FAM83Hc.1019T>A (p.Phe340Tyr)
c.1622T>A (p.Phe541Tyr)
c.199T>A
c.1076T>A (p.Phe359Tyr)
c.1037T>A (p.Phe346Tyr)
c.1340T>A (p.Phe447Tyr)
c.1187T>A (p.Phe396Tyr)
8g.143728443A>CCA372468848FAM83Hc.1018T>G (p.Phe340Val)
c.1621T>G (p.Phe541Val)
c.198T>G
c.1075T>G (p.Phe359Val)
c.1036T>G (p.Phe346Val)
c.1339T>G (p.Phe447Val)
c.1186T>G (p.Phe396Val)
8g.143728443A>GCA372468846FAM83Hc.1018T>C (p.Phe340Leu)
c.1621T>C (p.Phe541Leu)
c.198T>C
c.1075T>C (p.Phe359Leu)
c.1036T>C (p.Phe346Leu)
c.1339T>C (p.Phe447Leu)
c.1186T>C (p.Phe396Leu)
8g.143728443A>TCA372468844FAM83Hc.1018T>A (p.Phe340Ile)
c.1621T>A (p.Phe541Ile)
c.198T>A
c.1075T>A (p.Phe359Ile)
c.1036T>A (p.Phe346Ile)
c.1339T>A (p.Phe447Ile)
c.1186T>A (p.Phe396Ile)
8g.143728444G>ACA463519668FAM83Hc.1017C>T (p.Gly339=)
c.1620C>T (p.Gly540=)
c.197C>T
c.1074C>T (p.Gly358=)
c.1035C>T (p.Gly345=)
c.1338C>T (p.Gly446=)
c.1185C>T (p.Gly395=)
gnomAD v4
8g.143728444G>CCA463519670FAM83Hc.1017C>G (p.Gly339=)
c.1620C>G (p.Gly540=)
c.197C>G
c.1074C>G (p.Gly358=)
c.1035C>G (p.Gly345=)
c.1338C>G (p.Gly446=)
c.1185C>G (p.Gly395=)
8g.143728444G>TCA463519669FAM83Hc.1017C>A (p.Gly339=)
c.1620C>A (p.Gly540=)
c.197C>A
c.1074C>A (p.Gly358=)
c.1035C>A (p.Gly345=)
c.1338C>A (p.Gly446=)
c.1185C>A (p.Gly395=)
gnomAD v4
8g.143728445C>ACA372468849FAM83Hc.1016G>T (p.Gly339Val)
c.1619G>T (p.Gly540Val)
c.196G>T
c.1073G>T (p.Gly358Val)
c.1034G>T (p.Gly345Val)
c.1337G>T (p.Gly446Val)
c.1184G>T (p.Gly395Val)
gnomAD v4
8g.143728445C>GCA372468850FAM83Hc.1016G>C (p.Gly339Ala)
c.1619G>C (p.Gly540Ala)
c.196G>C
c.1073G>C (p.Gly358Ala)
c.1034G>C (p.Gly345Ala)
c.1337G>C (p.Gly446Ala)
c.1184G>C (p.Gly395Ala)
8g.143728445C>TCA372468851FAM83Hc.1016G>A (p.Gly339Asp)
c.1619G>A (p.Gly540Asp)
c.196G>A
c.1073G>A (p.Gly358Asp)
c.1034G>A (p.Gly345Asp)
c.1337G>A (p.Gly446Asp)
c.1184G>A (p.Gly395Asp)
gnomAD v4
8g.143728447delCA2688981144FAM83Hc.1016del (p.Gly339AlafsTer?)
c.1619del (p.Gly540AlafsTer?)
c.196del
c.1073del (p.Gly358AlafsTer?)
c.1034del (p.Gly345AlafsTer?)
c.1337del (p.Gly446AlafsTer?)
c.1184del (p.Gly395AlafsTer?)
gnomAD v4
8g.143728446C>ACA372468853FAM83Hc.1015G>T (p.Gly339Cys)
c.1618G>T (p.Gly540Cys)
c.195G>T
c.1072G>T (p.Gly358Cys)
c.1033G>T (p.Gly345Cys)
c.1336G>T (p.Gly446Cys)
c.1183G>T (p.Gly395Cys)
gnomAD v4
8g.143728446C>GCA372468854FAM83Hc.1015G>C (p.Gly339Arg)
c.1618G>C (p.Gly540Arg)
c.195G>C
c.1072G>C (p.Gly358Arg)
c.1033G>C (p.Gly345Arg)
c.1336G>C (p.Gly446Arg)
c.1183G>C (p.Gly395Arg)
gnomAD v4
8g.143728446C>TCA372468856FAM83Hc.1015G>A (p.Gly339Ser)
c.1618G>A (p.Gly540Ser)
c.195G>A
c.1072G>A (p.Gly358Ser)
c.1033G>A (p.Gly345Ser)
c.1336G>A (p.Gly446Ser)
c.1183G>A (p.Gly395Ser)
ClinVar gnomAD v4
8g.143728447C>ACA463519671FAM83Hc.1014G>T (p.Leu338=)
c.1617G>T (p.Leu539=)
c.194G>T
c.1071G>T (p.Leu357=)
c.1032G>T (p.Leu344=)
c.1335G>T (p.Leu445=)
c.1182G>T (p.Leu394=)
gnomAD v4
8g.143728447C=CA1825940778FAM83Hc.1014G= (p.Leu338=)
c.1617G= (p.Leu539=)
c.194G=
c.1071G= (p.Leu357=)
c.1032G= (p.Leu344=)
c.1335G= (p.Leu445=)
c.1182G= (p.Leu394=)
8g.143728447C>GCA463519672FAM83Hc.1014G>C (p.Leu338=)
c.1617G>C (p.Leu539=)
c.194G>C
c.1071G>C (p.Leu357=)
c.1032G>C (p.Leu344=)
c.1335G>C (p.Leu445=)
c.1182G>C (p.Leu394=)
8g.143728447C>TCA463519674FAM83Hc.1014G>A (p.Leu338=)
c.1617G>A (p.Leu539=)
c.194G>A
c.1071G>A (p.Leu357=)
c.1032G>A (p.Leu344=)
c.1335G>A (p.Leu445=)
c.1182G>A (p.Leu394=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.143728448A=CA1825940779FAM83Hc.1013T= (p.Leu338=)
c.1616T= (p.Leu539=)
c.193T=
c.1070T= (p.Leu357=)
c.1031T= (p.Leu344=)
c.1334T= (p.Leu445=)
c.1181T= (p.Leu394=)
8g.143728448A>CCA372468861FAM83Hc.1013T>G (p.Leu338Arg)
c.1616T>G (p.Leu539Arg)
c.193T>G
c.1070T>G (p.Leu357Arg)
c.1031T>G (p.Leu344Arg)
c.1334T>G (p.Leu445Arg)
c.1181T>G (p.Leu394Arg)
8g.143728448A>GCA372468858FAM83Hc.1013T>C (p.Leu338Pro)
c.1616T>C (p.Leu539Pro)
c.193T>C
c.1070T>C (p.Leu357Pro)
c.1031T>C (p.Leu344Pro)
c.1334T>C (p.Leu445Pro)
c.1181T>C (p.Leu394Pro)
dbSNP gnomAD v2 gnomAD v4
8g.143728448A>TCA372468859FAM83Hc.1013T>A (p.Leu338Gln)
c.1616T>A (p.Leu539Gln)
c.193T>A
c.1070T>A (p.Leu357Gln)
c.1031T>A (p.Leu344Gln)
c.1334T>A (p.Leu445Gln)
c.1181T>A (p.Leu394Gln)
8g.143728449G>ACA463519677FAM83Hc.1012C>T (p.Leu338=)
c.1615C>T (p.Leu539=)
c.192C>T
c.1069C>T (p.Leu357=)
c.1030C>T (p.Leu344=)
c.1333C>T (p.Leu445=)
c.1180C>T (p.Leu394=)
gnomAD v4
8g.143728449G>CCA372468862FAM83Hc.1012C>G (p.Leu338Val)
c.1615C>G (p.Leu539Val)
c.192C>G
c.1069C>G (p.Leu357Val)
c.1030C>G (p.Leu344Val)
c.1333C>G (p.Leu445Val)
c.1180C>G (p.Leu394Val)
8g.143728449G>TCA372468863FAM83Hc.1012C>A (p.Leu338Met)
c.1615C>A (p.Leu539Met)
c.192C>A
c.1069C>A (p.Leu357Met)
c.1030C>A (p.Leu344Met)
c.1333C>A (p.Leu445Met)
c.1180C>A (p.Leu394Met)
gnomAD v4
8g.143728450G>ACA463519680FAM83Hc.1011C>T (p.Gly337=)
c.1614C>T (p.Gly538=)
c.191C>T
c.1068C>T (p.Gly356=)
c.1029C>T (p.Gly343=)
c.1332C>T (p.Gly444=)
c.1179C>T (p.Gly393=)
gnomAD v4
8g.143728450G>CCA463519679FAM83Hc.1011C>G (p.Gly337=)
c.1614C>G (p.Gly538=)
c.191C>G
c.1068C>G (p.Gly356=)
c.1029C>G (p.Gly343=)
c.1332C>G (p.Gly444=)
c.1179C>G (p.Gly393=)
8g.143728450G>TCA463519678FAM83Hc.1011C>A (p.Gly337=)
c.1614C>A (p.Gly538=)
c.191C>A
c.1068C>A (p.Gly356=)
c.1029C>A (p.Gly343=)
c.1332C>A (p.Gly444=)
c.1179C>A (p.Gly393=)
gnomAD v4
8g.143728450_143728455delCA2579273274FAM83Hc.1006_1011del (p.Glu336_Gly337del)
c.1609_1614del (p.Glu537_Gly538del)
c.186_191del
c.1063_1068del (p.Glu355_Gly356del)
c.1024_1029del (p.Glu342_Gly343del)
c.1327_1332del (p.Glu443_Gly444del)
c.1174_1179del (p.Glu392_Gly393del)
8g.143728451C>ACA372468865FAM83Hc.1010G>T (p.Gly337Val)
c.1613G>T (p.Gly538Val)
c.190G>T
c.1067G>T (p.Gly356Val)
c.1028G>T (p.Gly343Val)
c.1331G>T (p.Gly444Val)
c.1178G>T (p.Gly393Val)
dbSNP gnomAD v2 gnomAD v4
8g.143728451C=CA1825940780FAM83Hc.1010G= (p.Gly337=)
c.1613G= (p.Gly538=)
c.190G=
c.1067G= (p.Gly356=)
c.1028G= (p.Gly343=)
c.1331G= (p.Gly444=)
c.1178G= (p.Gly393=)
8g.143728451C>GCA372468866FAM83Hc.1010G>C (p.Gly337Ala)
c.1613G>C (p.Gly538Ala)
c.190G>C
c.1067G>C (p.Gly356Ala)
c.1028G>C (p.Gly343Ala)
c.1331G>C (p.Gly444Ala)
c.1178G>C (p.Gly393Ala)
gnomAD v4
8g.143728451C>TCA372468867FAM83Hc.1010G>A (p.Gly337Asp)
c.1613G>A (p.Gly538Asp)
c.190G>A
c.1067G>A (p.Gly356Asp)
c.1028G>A (p.Gly343Asp)
c.1331G>A (p.Gly444Asp)
c.1178G>A (p.Gly393Asp)
gnomAD v4
8g.143728452C>ACA372468869FAM83Hc.1009G>T (p.Gly337Cys)
c.1612G>T (p.Gly538Cys)
c.189G>T
c.1066G>T (p.Gly356Cys)
c.1027G>T (p.Gly343Cys)
c.1330G>T (p.Gly444Cys)
c.1177G>T (p.Gly393Cys)
gnomAD v4
8g.143728452C>GCA372468871FAM83Hc.1009G>C (p.Gly337Arg)
c.1612G>C (p.Gly538Arg)
c.189G>C
c.1066G>C (p.Gly356Arg)
c.1027G>C (p.Gly343Arg)
c.1330G>C (p.Gly444Arg)
c.1177G>C (p.Gly393Arg)
8g.143728452C>TCA372468872FAM83Hc.1009G>A (p.Gly337Ser)
c.1612G>A (p.Gly538Ser)
c.189G>A
c.1066G>A (p.Gly356Ser)
c.1027G>A (p.Gly343Ser)
c.1330G>A (p.Gly444Ser)
c.1177G>A (p.Gly393Ser)
gnomAD v3 gnomAD v4
8g.143728453C>ACA372468873FAM83Hc.1008G>T (p.Glu336Asp)
c.1611G>T (p.Glu537Asp)
c.188G>T
c.1065G>T (p.Glu355Asp)
c.1026G>T (p.Glu342Asp)
c.1329G>T (p.Glu443Asp)
c.1176G>T (p.Glu392Asp)
gnomAD v4
8g.143728453C=CA1825940781FAM83Hc.1008G= (p.Glu336=)
c.1611G= (p.Glu537=)
c.188G=
c.1065G= (p.Glu355=)
c.1026G= (p.Glu342=)
c.1329G= (p.Glu443=)
c.1176G= (p.Glu392=)
8g.143728453C>GCA372468874FAM83Hc.1008G>C (p.Glu336Asp)
c.1611G>C (p.Glu537Asp)
c.188G>C
c.1065G>C (p.Glu355Asp)
c.1026G>C (p.Glu342Asp)
c.1329G>C (p.Glu443Asp)
c.1176G>C (p.Glu392Asp)
dbSNP gnomAD v2 gnomAD v4
8g.143728453C>TCA463519682FAM83Hc.1008G>A (p.Glu336=)
c.1611G>A (p.Glu537=)
c.188G>A
c.1065G>A (p.Glu355=)
c.1026G>A (p.Glu342=)
c.1329G>A (p.Glu443=)
c.1176G>A (p.Glu392=)
8g.143728454T>ACA372468875FAM83Hc.1007A>T (p.Glu336Val)
c.1610A>T (p.Glu537Val)
c.187A>T
c.1064A>T (p.Glu355Val)
c.1025A>T (p.Glu342Val)
c.1328A>T (p.Glu443Val)
c.1175A>T (p.Glu392Val)
8g.143728454T>CCA372468877FAM83Hc.1007A>G (p.Glu336Gly)
c.1610A>G (p.Glu537Gly)
c.187A>G
c.1064A>G (p.Glu355Gly)
c.1025A>G (p.Glu342Gly)
c.1328A>G (p.Glu443Gly)
c.1175A>G (p.Glu392Gly)
dbSNP gnomAD v2 gnomAD v4
8g.143728454T>GCA372468878FAM83Hc.1007A>C (p.Glu336Ala)
c.1610A>C (p.Glu537Ala)
c.187A>C
c.1064A>C (p.Glu355Ala)
c.1025A>C (p.Glu342Ala)
c.1328A>C (p.Glu443Ala)
c.1175A>C (p.Glu392Ala)
dbSNP
8g.143728454T=CA1825940782FAM83Hc.1007A= (p.Glu336=)
c.1610A= (p.Glu537=)
c.187A=
c.1064A= (p.Glu355=)
c.1025A= (p.Glu342=)
c.1328A= (p.Glu443=)
c.1175A= (p.Glu392=)
8g.143728455C>ACA372468879FAM83Hc.1006G>T (p.Glu336Ter)
c.1609G>T (p.Glu537Ter)
c.186G>T
c.1063G>T (p.Glu355Ter)
c.1024G>T (p.Glu342Ter)
c.1327G>T (p.Glu443Ter)
c.1174G>T (p.Glu392Ter)
gnomAD v4
8g.143728455C>GCA372468883FAM83Hc.1006G>C (p.Glu336Gln)
c.1609G>C (p.Glu537Gln)
c.186G>C
c.1063G>C (p.Glu355Gln)
c.1024G>C (p.Glu342Gln)
c.1327G>C (p.Glu443Gln)
c.1174G>C (p.Glu392Gln)
gnomAD v4
8g.143728455C>TCA372468881FAM83Hc.1006G>A (p.Glu336Lys)
c.1609G>A (p.Glu537Lys)
c.186G>A
c.1063G>A (p.Glu355Lys)
c.1024G>A (p.Glu342Lys)
c.1327G>A (p.Glu443Lys)
c.1174G>A (p.Glu392Lys)
gnomAD v4
8g.143728456T>ACA372468885FAM83Hc.1005A>T (p.Glu335Asp)
c.1608A>T (p.Glu536Asp)
c.185A>T
c.1062A>T (p.Glu354Asp)
c.1023A>T (p.Glu341Asp)
c.1326A>T (p.Glu442Asp)
c.1173A>T (p.Glu391Asp)
gnomAD v4
8g.143728456T>CCA463519687FAM83Hc.1005A>G (p.Glu335=)
c.1608A>G (p.Glu536=)
c.185A>G
c.1062A>G (p.Glu354=)
c.1023A>G (p.Glu341=)
c.1326A>G (p.Glu442=)
c.1173A>G (p.Glu391=)
dbSNP gnomAD v4
8g.143728456T>GCA372468886FAM83Hc.1005A>C (p.Glu335Asp)
c.1608A>C (p.Glu536Asp)
c.185A>C
c.1062A>C (p.Glu354Asp)
c.1023A>C (p.Glu341Asp)
c.1326A>C (p.Glu442Asp)
c.1173A>C (p.Glu391Asp)
8g.143728456T=CA1825940783FAM83Hc.1005A= (p.Glu335=)
c.1608A= (p.Glu536=)
c.185A=
c.1062A= (p.Glu354=)
c.1023A= (p.Glu341=)
c.1326A= (p.Glu442=)
c.1173A= (p.Glu391=)
8g.143728457T>ACA372468888FAM83Hc.1004A>T (p.Glu335Val)
c.1607A>T (p.Glu536Val)
c.184A>T
c.1061A>T (p.Glu354Val)
c.1022A>T (p.Glu341Val)
c.1325A>T (p.Glu442Val)
c.1172A>T (p.Glu391Val)
8g.143728457T>CCA372468889FAM83Hc.1004A>G (p.Glu335Gly)
c.1607A>G (p.Glu536Gly)
c.184A>G
c.1061A>G (p.Glu354Gly)
c.1022A>G (p.Glu341Gly)
c.1325A>G (p.Glu442Gly)
c.1172A>G (p.Glu391Gly)
8g.143728457T>GCA372468891FAM83Hc.1004A>C (p.Glu335Ala)
c.1607A>C (p.Glu536Ala)
c.184A>C
c.1061A>C (p.Glu354Ala)
c.1022A>C (p.Glu341Ala)
c.1325A>C (p.Glu442Ala)
c.1172A>C (p.Glu391Ala)
8g.143728458C>ACA372468892FAM83Hc.1003G>T (p.Glu335Ter)
c.1606G>T (p.Glu536Ter)
c.183G>T
c.1060G>T (p.Glu354Ter)
c.1021G>T (p.Glu341Ter)
c.1324G>T (p.Glu442Ter)
c.1171G>T (p.Glu391Ter)
gnomAD v4
8g.143728458C=CA1825940784FAM83Hc.1003G= (p.Glu335=)
c.1606G= (p.Glu536=)
c.183G=
c.1060G= (p.Glu354=)
c.1021G= (p.Glu341=)
c.1324G= (p.Glu442=)
c.1171G= (p.Glu391=)
8g.143728458C>GCA372468893FAM83Hc.1003G>C (p.Glu335Gln)
c.1606G>C (p.Glu536Gln)
c.183G>C
c.1060G>C (p.Glu354Gln)
c.1021G>C (p.Glu341Gln)
c.1324G>C (p.Glu442Gln)
c.1171G>C (p.Glu391Gln)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.143728458C>TCA372468895FAM83Hc.1003G>A (p.Glu335Lys)
c.1606G>A (p.Glu536Lys)
c.183G>A
c.1060G>A (p.Glu354Lys)
c.1021G>A (p.Glu341Lys)
c.1324G>A (p.Glu442Lys)
c.1171G>A (p.Glu391Lys)
gnomAD v4
8g.143728460delCA2688981175FAM83Hc.1003del (p.Glu335LysfsTer?)
c.1606del (p.Glu536LysfsTer?)
c.183del
c.1060del (p.Glu354LysfsTer?)
c.1021del (p.Glu341LysfsTer?)
c.1324del (p.Glu442LysfsTer?)
c.1171del (p.Glu391LysfsTer?)
gnomAD v4
8g.143728459C>ACA463519688FAM83Hc.1002G>T (p.Arg334=)
c.1605G>T (p.Arg535=)
c.182G>T
c.1059G>T (p.Arg353=)
c.1020G>T (p.Arg340=)
c.1323G>T (p.Arg441=)
c.1170G>T (p.Arg390=)
gnomAD v4
8g.143728459C>GCA463519689FAM83Hc.1002G>C (p.Arg334=)
c.1605G>C (p.Arg535=)
c.182G>C
c.1059G>C (p.Arg353=)
c.1020G>C (p.Arg340=)
c.1323G>C (p.Arg441=)
c.1170G>C (p.Arg390=)
8g.143728459C>TCA463519691FAM83Hc.1002G>A (p.Arg334=)
c.1605G>A (p.Arg535=)
c.182G>A
c.1059G>A (p.Arg353=)
c.1020G>A (p.Arg340=)
c.1323G>A (p.Arg441=)
c.1170G>A (p.Arg390=)
gnomAD v4
8g.143728460C>ACA372468897FAM83Hc.1001G>T (p.Arg334Leu)
c.1604G>T (p.Arg535Leu)
c.181G>T
c.1058G>T (p.Arg353Leu)
c.1019G>T (p.Arg340Leu)
c.1322G>T (p.Arg441Leu)
c.1169G>T (p.Arg390Leu)
gnomAD v4 COSMIC
8g.143728460C=CA1825940785FAM83Hc.1001G= (p.Arg334=)
c.1604G= (p.Arg535=)
c.181G=
c.1058G= (p.Arg353=)
c.1019G= (p.Arg340=)
c.1322G= (p.Arg441=)
c.1169G= (p.Arg390=)
8g.143728460C>GCA372468898FAM83Hc.1001G>C (p.Arg334Pro)
c.1604G>C (p.Arg535Pro)
c.181G>C
c.1058G>C (p.Arg353Pro)
c.1019G>C (p.Arg340Pro)
c.1322G>C (p.Arg441Pro)
c.1169G>C (p.Arg390Pro)
gnomAD v4
8g.143728460C>TCA4917538FAM83Hc.1001G>A (p.Arg334Gln)
c.1604G>A (p.Arg535Gln)
c.181G>A
c.1058G>A (p.Arg353Gln)
c.1019G>A (p.Arg340Gln)
c.1322G>A (p.Arg441Gln)
c.1169G>A (p.Arg390Gln)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.143728461G>ACA372468901FAM83Hc.1000C>T (p.Arg334Trp)
c.1603C>T (p.Arg535Trp)
c.180C>T
c.1057C>T (p.Arg353Trp)
c.1018C>T (p.Arg340Trp)
c.1321C>T (p.Arg441Trp)
c.1168C>T (p.Arg390Trp)
dbSNP gnomAD v3 gnomAD v4
8g.143728461G>CCA372468903FAM83Hc.1000C>G (p.Arg334Gly)
c.1603C>G (p.Arg535Gly)
c.180C>G
c.1057C>G (p.Arg353Gly)
c.1018C>G (p.Arg340Gly)
c.1321C>G (p.Arg441Gly)
c.1168C>G (p.Arg390Gly)
dbSNP gnomAD v2 gnomAD v4
8g.143728461G=CA1825940786FAM83Hc.1000C= (p.Arg334=)
c.1603C= (p.Arg535=)
c.180C=
c.1057C= (p.Arg353=)
c.1018C= (p.Arg340=)
c.1321C= (p.Arg441=)
c.1168C= (p.Arg390=)
8g.143728461G>TCA463519692FAM83Hc.1000C>A (p.Arg334=)
c.1603C>A (p.Arg535=)
c.180C>A
c.1057C>A (p.Arg353=)
c.1018C>A (p.Arg340=)
c.1321C>A (p.Arg441=)
c.1168C>A (p.Arg390=)
gnomAD v4
8g.143728464delCA2688981187FAM83Hc.1000del (p.Arg334GlyfsTer?)
c.1603del (p.Arg535GlyfsTer?)
c.180del
c.1057del (p.Arg353GlyfsTer?)
c.1018del (p.Arg340GlyfsTer?)
c.1321del (p.Arg441GlyfsTer?)
c.1168del (p.Arg390GlyfsTer?)
dbSNP gnomAD v4
8g.143728462G>ACA463519694FAM83Hc.999C>T (p.Pro333=)
c.1602C>T (p.Pro534=)
c.179C>T
c.1056C>T (p.Pro352=)
c.1017C>T (p.Pro339=)
c.1320C>T (p.Pro440=)
c.1167C>T (p.Pro389=)
gnomAD v4
8g.143728462G>CCA463519696FAM83Hc.999C>G (p.Pro333=)
c.1602C>G (p.Pro534=)
c.179C>G
c.1056C>G (p.Pro352=)
c.1017C>G (p.Pro339=)
c.1320C>G (p.Pro440=)
c.1167C>G (p.Pro389=)
8g.143728462G>TCA463519698FAM83Hc.999C>A (p.Pro333=)
c.1602C>A (p.Pro534=)
c.179C>A
c.1056C>A (p.Pro352=)
c.1017C>A (p.Pro339=)
c.1320C>A (p.Pro440=)
c.1167C>A (p.Pro389=)
gnomAD v4
8g.143728463G>ACA372468907FAM83Hc.998C>T (p.Pro333Leu)
c.1601C>T (p.Pro534Leu)
c.178C>T
c.1055C>T (p.Pro352Leu)
c.1016C>T (p.Pro339Leu)
c.1319C>T (p.Pro440Leu)
c.1166C>T (p.Pro389Leu)
gnomAD v4
8g.143728463G>CCA372468904FAM83Hc.998C>G (p.Pro333Arg)
c.1601C>G (p.Pro534Arg)
c.178C>G
c.1055C>G (p.Pro352Arg)
c.1016C>G (p.Pro339Arg)
c.1319C>G (p.Pro440Arg)
c.1166C>G (p.Pro389Arg)
dbSNP gnomAD v2 gnomAD v4
8g.143728463G=CA1825940787FAM83Hc.998C= (p.Pro333=)
c.1601C= (p.Pro534=)
c.178C=
c.1055C= (p.Pro352=)
c.1016C= (p.Pro339=)
c.1319C= (p.Pro440=)
c.1166C= (p.Pro389=)
8g.143728463G>TCA372468905FAM83Hc.998C>A (p.Pro333His)
c.1601C>A (p.Pro534His)
c.178C>A
c.1055C>A (p.Pro352His)
c.1016C>A (p.Pro339His)
c.1319C>A (p.Pro440His)
c.1166C>A (p.Pro389His)
gnomAD v4
8g.143728464G>ACA372468909FAM83Hc.997C>T (p.Pro333Ser)
c.1600C>T (p.Pro534Ser)
c.177C>T
c.1054C>T (p.Pro352Ser)
c.1015C>T (p.Pro339Ser)
c.1318C>T (p.Pro440Ser)
c.1165C>T (p.Pro389Ser)
gnomAD v4
8g.143728464G>CCA372468910FAM83Hc.997C>G (p.Pro333Ala)
c.1600C>G (p.Pro534Ala)
c.177C>G
c.1054C>G (p.Pro352Ala)
c.1015C>G (p.Pro339Ala)
c.1318C>G (p.Pro440Ala)
c.1165C>G (p.Pro389Ala)
8g.143728464G>TCA372468912FAM83Hc.997C>A (p.Pro333Thr)
c.1600C>A (p.Pro534Thr)
c.177C>A
c.1054C>A (p.Pro352Thr)
c.1015C>A (p.Pro339Thr)
c.1318C>A (p.Pro440Thr)
c.1165C>A (p.Pro389Thr)
gnomAD v4
8g.143728465T>ACA463519700FAM83Hc.996A>T (p.Pro332=)
c.1599A>T (p.Pro533=)
c.176A>T
c.1053A>T (p.Pro351=)
c.1014A>T (p.Pro338=)
c.1317A>T (p.Pro439=)
c.1164A>T (p.Pro388=)
8g.143728465T>CCA463519701FAM83Hc.996A>G (p.Pro332=)
c.1599A>G (p.Pro533=)
c.176A>G
c.1053A>G (p.Pro351=)
c.1014A>G (p.Pro338=)
c.1317A>G (p.Pro439=)
c.1164A>G (p.Pro388=)
8g.143728465T>GCA463519702FAM83Hc.996A>C (p.Pro332=)
c.1599A>C (p.Pro533=)
c.176A>C
c.1053A>C (p.Pro351=)
c.1014A>C (p.Pro338=)
c.1317A>C (p.Pro439=)
c.1164A>C (p.Pro388=)
8g.143728466G>ACA372468913FAM83Hc.995C>T (p.Pro332Leu)
c.1598C>T (p.Pro533Leu)
c.175C>T
c.1052C>T (p.Pro351Leu)
c.1013C>T (p.Pro338Leu)
c.1316C>T (p.Pro439Leu)
c.1163C>T (p.Pro388Leu)
gnomAD v4
8g.143728466G>CCA372468915FAM83Hc.995C>G (p.Pro332Arg)
c.1598C>G (p.Pro533Arg)
c.175C>G
c.1052C>G (p.Pro351Arg)
c.1013C>G (p.Pro338Arg)
c.1316C>G (p.Pro439Arg)
c.1163C>G (p.Pro388Arg)
8g.143728466G>TCA372468917FAM83Hc.995C>A (p.Pro332Gln)
c.1598C>A (p.Pro533Gln)
c.175C>A
c.1052C>A (p.Pro351Gln)
c.1013C>A (p.Pro338Gln)
c.1316C>A (p.Pro439Gln)
c.1163C>A (p.Pro388Gln)
gnomAD v4
8g.143728467G>ACA372468918FAM83Hc.994C>T (p.Pro332Ser)
c.1597C>T (p.Pro533Ser)
c.174C>T
c.1051C>T (p.Pro351Ser)
c.1012C>T (p.Pro338Ser)
c.1315C>T (p.Pro439Ser)
c.1162C>T (p.Pro388Ser)
dbSNP gnomAD v2 gnomAD v4
8g.143728467G>CCA372468920FAM83Hc.994C>G (p.Pro332Ala)
c.1597C>G (p.Pro533Ala)
c.174C>G
c.1051C>G (p.Pro351Ala)
c.1012C>G (p.Pro338Ala)
c.1315C>G (p.Pro439Ala)
c.1162C>G (p.Pro388Ala)
dbSNP gnomAD v3 gnomAD v4
8g.143728467G=CA1825940788FAM83Hc.994C= (p.Pro332=)
c.1597C= (p.Pro533=)
c.174C=
c.1051C= (p.Pro351=)
c.1012C= (p.Pro338=)
c.1315C= (p.Pro439=)
c.1162C= (p.Pro388=)
8g.143728467G>TCA372468921FAM83Hc.994C>A (p.Pro332Thr)
c.1597C>A (p.Pro533Thr)
c.174C>A
c.1051C>A (p.Pro351Thr)
c.1012C>A (p.Pro338Thr)
c.1315C>A (p.Pro439Thr)
c.1162C>A (p.Pro388Thr)
gnomAD v4
8g.143728468C>ACA463519705FAM83Hc.993G>T (p.Pro331=)
c.1596G>T (p.Pro532=)
c.173G>T
c.1050G>T (p.Pro350=)
c.1011G>T (p.Pro337=)
c.1314G>T (p.Pro438=)
c.1161G>T (p.Pro387=)
gnomAD v4
8g.143728468C>GCA463519707FAM83Hc.993G>C (p.Pro331=)
c.1596G>C (p.Pro532=)
c.173G>C
c.1050G>C (p.Pro350=)
c.1011G>C (p.Pro337=)
c.1314G>C (p.Pro438=)
c.1161G>C (p.Pro387=)
gnomAD v4
8g.143728468C>TCA463519710FAM83Hc.993G>A (p.Pro331=)
c.1596G>A (p.Pro532=)
c.173G>A
c.1050G>A (p.Pro350=)
c.1011G>A (p.Pro337=)
c.1314G>A (p.Pro438=)
c.1161G>A (p.Pro387=)
gnomAD v4
8g.143728469G>ACA372468922FAM83Hc.992C>T (p.Pro331Leu)
c.1595C>T (p.Pro532Leu)
c.172C>T
c.1049C>T (p.Pro350Leu)
c.1010C>T (p.Pro337Leu)
c.1313C>T (p.Pro438Leu)
c.1160C>T (p.Pro387Leu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.143728469G>CCA372468923FAM83Hc.992C>G (p.Pro331Arg)
c.1595C>G (p.Pro532Arg)
c.172C>G
c.1049C>G (p.Pro350Arg)
c.1010C>G (p.Pro337Arg)
c.1313C>G (p.Pro438Arg)
c.1160C>G (p.Pro387Arg)
8g.143728469G=CA1825940789FAM83Hc.992C= (p.Pro331=)
c.1595C= (p.Pro532=)
c.172C=
c.1049C= (p.Pro350=)
c.1010C= (p.Pro337=)
c.1313C= (p.Pro438=)
c.1160C= (p.Pro387=)
8g.143728469G>TCA372468924FAM83Hc.992C>A (p.Pro331Gln)
c.1595C>A (p.Pro532Gln)
c.172C>A
c.1049C>A (p.Pro350Gln)
c.1010C>A (p.Pro337Gln)
c.1313C>A (p.Pro438Gln)
c.1160C>A (p.Pro387Gln)
gnomAD v4
8g.143728470G>ACA372468926FAM83Hc.991C>T (p.Pro331Ser)
c.1594C>T (p.Pro532Ser)
c.171C>T
c.1048C>T (p.Pro350Ser)
c.1009C>T (p.Pro337Ser)
c.1312C>T (p.Pro438Ser)
c.1159C>T (p.Pro387Ser)
gnomAD v4
8g.143728470G>CCA372468927FAM83Hc.991C>G (p.Pro331Ala)
c.1594C>G (p.Pro532Ala)
c.171C>G
c.1048C>G (p.Pro350Ala)
c.1009C>G (p.Pro337Ala)
c.1312C>G (p.Pro438Ala)
c.1159C>G (p.Pro387Ala)
8g.143728470G>TCA372468925FAM83Hc.991C>A (p.Pro331Thr)
c.1594C>A (p.Pro532Thr)
c.171C>A
c.1048C>A (p.Pro350Thr)
c.1009C>A (p.Pro337Thr)
c.1312C>A (p.Pro438Thr)
c.1159C>A (p.Pro387Thr)
gnomAD v4
8g.143728471G>ACA463519716FAM83Hc.990C>T (p.Phe330=)
c.1593C>T (p.Phe531=)
c.170C>T
c.1047C>T (p.Phe349=)
c.1008C>T (p.Phe336=)
c.1311C>T (p.Phe437=)
c.1158C>T (p.Phe386=)
dbSNP gnomAD v4
8g.143728471G>CCA372468929FAM83Hc.990C>G (p.Phe330Leu)
c.1593C>G (p.Phe531Leu)
c.170C>G
c.1047C>G (p.Phe349Leu)
c.1008C>G (p.Phe336Leu)
c.1311C>G (p.Phe437Leu)
c.1158C>G (p.Phe386Leu)
dbSNP gnomAD v4
8g.143728471G=CA1825940790FAM83Hc.990C= (p.Phe330=)
c.1593C= (p.Phe531=)
c.170C=
c.1047C= (p.Phe349=)
c.1008C= (p.Phe336=)
c.1311C= (p.Phe437=)
c.1158C= (p.Phe386=)
8g.143728471G>TCA372468928FAM83Hc.990C>A (p.Phe330Leu)
c.1593C>A (p.Phe531Leu)
c.170C>A
c.1047C>A (p.Phe349Leu)
c.1008C>A (p.Phe336Leu)
c.1311C>A (p.Phe437Leu)
c.1158C>A (p.Phe386Leu)
gnomAD v4
8g.143728472A>CCA372468931FAM83Hc.989T>G (p.Phe330Cys)
c.1592T>G (p.Phe531Cys)
c.169T>G
c.1046T>G (p.Phe349Cys)
c.1007T>G (p.Phe336Cys)
c.1310T>G (p.Phe437Cys)
c.1157T>G (p.Phe386Cys)
8g.143728472A>GCA372468930FAM83Hc.989T>C (p.Phe330Ser)
c.1592T>C (p.Phe531Ser)
c.169T>C
c.1046T>C (p.Phe349Ser)
c.1007T>C (p.Phe336Ser)
c.1310T>C (p.Phe437Ser)
c.1157T>C (p.Phe386Ser)
gnomAD v4
8g.143728472A>TCA372468932FAM83Hc.989T>A (p.Phe330Tyr)
c.1592T>A (p.Phe531Tyr)
c.169T>A
c.1046T>A (p.Phe349Tyr)
c.1007T>A (p.Phe336Tyr)
c.1310T>A (p.Phe437Tyr)
c.1157T>A (p.Phe386Tyr)
8g.143728473A>CCA372468933FAM83Hc.988T>G (p.Phe330Val)
c.1591T>G (p.Phe531Val)
c.168T>G
c.1045T>G (p.Phe349Val)
c.1006T>G (p.Phe336Val)
c.1309T>G (p.Phe437Val)
c.1156T>G (p.Phe386Val)
8g.143728473A>GCA372468934FAM83Hc.988T>C (p.Phe330Leu)
c.1591T>C (p.Phe531Leu)
c.168T>C
c.1045T>C (p.Phe349Leu)
c.1006T>C (p.Phe336Leu)
c.1309T>C (p.Phe437Leu)
c.1156T>C (p.Phe386Leu)
8g.143728473A>TCA372468935FAM83Hc.988T>A (p.Phe330Ile)
c.1591T>A (p.Phe531Ile)
c.168T>A
c.1045T>A (p.Phe349Ile)
c.1006T>A (p.Phe336Ile)
c.1309T>A (p.Phe437Ile)
c.1156T>A (p.Phe386Ile)
gnomAD v4
8g.143728474C>ACA463519721FAM83Hc.987G>T (p.Leu329=)
c.1590G>T (p.Leu530=)
c.167G>T
c.1044G>T (p.Leu348=)
c.1005G>T (p.Leu335=)
c.1308G>T (p.Leu436=)
c.1155G>T (p.Leu385=)
dbSNP gnomAD v2 gnomAD v4
8g.143728474C=CA1825940791FAM83Hc.987G= (p.Leu329=)
c.1590G= (p.Leu530=)
c.167G=
c.1044G= (p.Leu348=)
c.1005G= (p.Leu335=)
c.1308G= (p.Leu436=)
c.1155G= (p.Leu385=)
8g.143728474C>GCA463519725FAM83Hc.987G>C (p.Leu329=)
c.1590G>C (p.Leu530=)
c.167G>C
c.1044G>C (p.Leu348=)
c.1005G>C (p.Leu335=)
c.1308G>C (p.Leu436=)
c.1155G>C (p.Leu385=)
8g.143728474C>TCA463519726FAM83Hc.987G>A (p.Leu329=)
c.1590G>A (p.Leu530=)
c.167G>A
c.1044G>A (p.Leu348=)
c.1005G>A (p.Leu335=)
c.1308G>A (p.Leu436=)
c.1155G>A (p.Leu385=)
gnomAD v4
8g.143728475A=CA1825940792FAM83Hc.986T= (p.Leu329=)
c.1589T= (p.Leu530=)
c.166T=
c.1043T= (p.Leu348=)
c.1004T= (p.Leu335=)
c.1307T= (p.Leu436=)
c.1154T= (p.Leu385=)
8g.143728475A>CCA372468936FAM83Hc.986T>G (p.Leu329Arg)
c.1589T>G (p.Leu530Arg)
c.166T>G
c.1043T>G (p.Leu348Arg)
c.1004T>G (p.Leu335Arg)
c.1307T>G (p.Leu436Arg)
c.1154T>G (p.Leu385Arg)
8g.143728475A>GCA372468937FAM83Hc.986T>C (p.Leu329Pro)
c.1589T>C (p.Leu530Pro)
c.166T>C
c.1043T>C (p.Leu348Pro)
c.1004T>C (p.Leu335Pro)
c.1307T>C (p.Leu436Pro)
c.1154T>C (p.Leu385Pro)
dbSNP gnomAD v2 gnomAD v4
8g.143728475A>TCA372468938FAM83Hc.986T>A (p.Leu329Gln)
c.1589T>A (p.Leu530Gln)
c.166T>A
c.1043T>A (p.Leu348Gln)
c.1004T>A (p.Leu335Gln)
c.1307T>A (p.Leu436Gln)
c.1154T>A (p.Leu385Gln)
8g.143728476G>ACA463519730FAM83Hc.985C>T (p.Leu329=)
c.1588C>T (p.Leu530=)
c.165C>T
c.1042C>T (p.Leu348=)
c.1003C>T (p.Leu335=)
c.1306C>T (p.Leu436=)
c.1153C>T (p.Leu385=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.143728476G>CCA372468939FAM83Hc.985C>G (p.Leu329Val)
c.1588C>G (p.Leu530Val)
c.165C>G
c.1042C>G (p.Leu348Val)
c.1003C>G (p.Leu335Val)
c.1306C>G (p.Leu436Val)
c.1153C>G (p.Leu385Val)
8g.143728476G=CA1825940793FAM83Hc.985C= (p.Leu329=)
c.1588C= (p.Leu530=)
c.165C=
c.1042C= (p.Leu348=)
c.1003C= (p.Leu335=)
c.1306C= (p.Leu436=)
c.1153C= (p.Leu385=)
8g.143728476G>TCA372468940FAM83Hc.985C>A (p.Leu329Met)
c.1588C>A (p.Leu530Met)
c.165C>A
c.1042C>A (p.Leu348Met)
c.1003C>A (p.Leu335Met)
c.1306C>A (p.Leu436Met)
c.1153C>A (p.Leu385Met)
gnomAD v4
8g.143728477G>ACA463519731FAM83Hc.984C>T (p.Leu328=)
c.1587C>T (p.Leu529=)
c.164C>T
c.1041C>T (p.Leu347=)
c.1002C>T (p.Leu334=)
c.1305C>T (p.Leu435=)
c.1152C>T (p.Leu384=)
gnomAD v4
8g.143728477G>CCA463519732FAM83Hc.984C>G (p.Leu328=)
c.1587C>G (p.Leu529=)
c.164C>G
c.1041C>G (p.Leu347=)
c.1002C>G (p.Leu334=)
c.1305C>G (p.Leu435=)
c.1152C>G (p.Leu384=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.143728477G=CA1825940794FAM83Hc.984C= (p.Leu328=)
c.1587C= (p.Leu529=)
c.164C=
c.1041C= (p.Leu347=)
c.1002C= (p.Leu334=)
c.1305C= (p.Leu435=)
c.1152C= (p.Leu384=)
8g.143728477G>TCA463519735FAM83Hc.984C>A (p.Leu328=)
c.1587C>A (p.Leu529=)
c.164C>A
c.1041C>A (p.Leu347=)
c.1002C>A (p.Leu334=)
c.1305C>A (p.Leu435=)
c.1152C>A (p.Leu384=)
gnomAD v4
8g.143728478A>CCA372468941FAM83Hc.983T>G (p.Leu328Arg)
c.1586T>G (p.Leu529Arg)
c.163T>G
c.1040T>G (p.Leu347Arg)
c.1001T>G (p.Leu334Arg)
c.1304T>G (p.Leu435Arg)
c.1151T>G (p.Leu384Arg)
8g.143728478A>GCA372468942FAM83Hc.983T>C (p.Leu328Pro)
c.1586T>C (p.Leu529Pro)
c.163T>C
c.1040T>C (p.Leu347Pro)
c.1001T>C (p.Leu334Pro)
c.1304T>C (p.Leu435Pro)
c.1151T>C (p.Leu384Pro)
gnomAD v4
8g.143728478A>TCA372468943FAM83Hc.983T>A (p.Leu328His)
c.1586T>A (p.Leu529His)
c.163T>A
c.1040T>A (p.Leu347His)
c.1001T>A (p.Leu334His)
c.1304T>A (p.Leu435His)
c.1151T>A (p.Leu384His)
gnomAD v4
8g.143728479G>ACA372468944FAM83Hc.982C>T (p.Leu328Phe)
c.1585C>T (p.Leu529Phe)
c.162C>T
c.1039C>T (p.Leu347Phe)
c.1000C>T (p.Leu334Phe)
c.1303C>T (p.Leu435Phe)
c.1150C>T (p.Leu384Phe)
dbSNP gnomAD v3 gnomAD v4
8g.143728479G>CCA372468945FAM83Hc.982C>G (p.Leu328Val)
c.1585C>G (p.Leu529Val)
c.162C>G
c.1039C>G (p.Leu347Val)
c.1000C>G (p.Leu334Val)
c.1303C>G (p.Leu435Val)
c.1150C>G (p.Leu384Val)
8g.143728479G=CA1825940795FAM83Hc.982C= (p.Leu328=)
c.1585C= (p.Leu529=)
c.162C=
c.1039C= (p.Leu347=)
c.1000C= (p.Leu334=)
c.1303C= (p.Leu435=)
c.1150C= (p.Leu384=)
8g.143728479G>TCA372468946FAM83Hc.982C>A (p.Leu328Ile)
c.1585C>A (p.Leu529Ile)
c.162C>A
c.1039C>A (p.Leu347Ile)
c.1000C>A (p.Leu334Ile)
c.1303C>A (p.Leu435Ile)
c.1150C>A (p.Leu384Ile)
gnomAD v4 COSMIC
8g.143728480G>ACA463519743FAM83Hc.981C>T (p.His327=)
c.1584C>T (p.His528=)
c.161C>T
c.1038C>T (p.His346=)
c.999C>T (p.His333=)
c.1302C>T (p.His434=)
c.1149C>T (p.His383=)
gnomAD v4
8g.143728480G>CCA372468947FAM83Hc.981C>G (p.His327Gln)
c.1584C>G (p.His528Gln)
c.161C>G
c.1038C>G (p.His346Gln)
c.999C>G (p.His333Gln)
c.1302C>G (p.His434Gln)
c.1149C>G (p.His383Gln)
8g.143728480G>TCA372468948FAM83Hc.981C>A (p.His327Gln)
c.1584C>A (p.His528Gln)
c.161C>A
c.1038C>A (p.His346Gln)
c.999C>A (p.His333Gln)
c.1302C>A (p.His434Gln)
c.1149C>A (p.His383Gln)
8g.143728481T>ACA372468949FAM83Hc.980A>T (p.His327Leu)
c.1583A>T (p.His528Leu)
c.160A>T
c.1037A>T (p.His346Leu)
c.998A>T (p.His333Leu)
c.1301A>T (p.His434Leu)
c.1148A>T (p.His383Leu)
gnomAD v4
8g.143728481T>CCA372468950FAM83Hc.980A>G (p.His327Arg)
c.1583A>G (p.His528Arg)
c.160A>G
c.1037A>G (p.His346Arg)
c.998A>G (p.His333Arg)
c.1301A>G (p.His434Arg)
c.1148A>G (p.His383Arg)
dbSNP gnomAD v2 gnomAD v4 COSMIC
8g.143728481T>GCA372468951FAM83Hc.980A>C (p.His327Pro)
c.1583A>C (p.His528Pro)
c.160A>C
c.1037A>C (p.His346Pro)
c.998A>C (p.His333Pro)
c.1301A>C (p.His434Pro)
c.1148A>C (p.His383Pro)
gnomAD v4
8g.143728481T=CA1825940796FAM83Hc.980A= (p.His327=)
c.1583A= (p.His528=)
c.160A=
c.1037A= (p.His346=)
c.998A= (p.His333=)
c.1301A= (p.His434=)
c.1148A= (p.His383=)
8g.143728482G>ACA372468952FAM83Hc.979C>T (p.His327Tyr)
c.1582C>T (p.His528Tyr)
c.159C>T
c.1036C>T (p.His346Tyr)
c.997C>T (p.His333Tyr)
c.1300C>T (p.His434Tyr)
c.1147C>T (p.His383Tyr)
gnomAD v4
8g.143728482G>CCA372468953FAM83Hc.979C>G (p.His327Asp)
c.1582C>G (p.His528Asp)
c.159C>G
c.1036C>G (p.His346Asp)
c.997C>G (p.His333Asp)
c.1300C>G (p.His434Asp)
c.1147C>G (p.His383Asp)
8g.143728482G>TCA372468954FAM83Hc.979C>A (p.His327Asn)
c.1582C>A (p.His528Asn)
c.159C>A
c.1036C>A (p.His346Asn)
c.997C>A (p.His333Asn)
c.1300C>A (p.His434Asn)
c.1147C>A (p.His383Asn)
gnomAD v4
8g.143728483C>ACA463519758FAM83Hc.978G>T (p.Ala326=)
c.1581G>T (p.Ala527=)
c.158G>T
c.1035G>T (p.Ala345=)
c.996G>T (p.Ala332=)
c.1299G>T (p.Ala433=)
c.1146G>T (p.Ala382=)
8g.143728483C=CA1825940797FAM83Hc.978G= (p.Ala326=)
c.1581G= (p.Ala527=)
c.158G=
c.1035G= (p.Ala345=)
c.996G= (p.Ala332=)
c.1299G= (p.Ala433=)
c.1146G= (p.Ala382=)
8g.143728483C>GCA4917539FAM83Hc.978G>C (p.Ala326=)
c.1581G>C (p.Ala527=)
c.158G>C
c.1035G>C (p.Ala345=)
c.996G>C (p.Ala332=)
c.1299G>C (p.Ala433=)
c.1146G>C (p.Ala382=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.143728483C>TCA463519760FAM83Hc.978G>A (p.Ala326=)
c.1581G>A (p.Ala527=)
c.158G>A
c.1035G>A (p.Ala345=)
c.996G>A (p.Ala332=)
c.1299G>A (p.Ala433=)
c.1146G>A (p.Ala382=)
dbSNP gnomAD v2 gnomAD v4
8g.143728484G>ACA372468955FAM83Hc.977C>T (p.Ala326Val)
c.1580C>T (p.Ala527Val)
c.157C>T
c.1034C>T (p.Ala345Val)
c.995C>T (p.Ala332Val)
c.1298C>T (p.Ala433Val)
c.1145C>T (p.Ala382Val)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.143728484G>CCA372468956FAM83Hc.977C>G (p.Ala326Gly)
c.1580C>G (p.Ala527Gly)
c.157C>G
c.1034C>G (p.Ala345Gly)
c.995C>G (p.Ala332Gly)
c.1298C>G (p.Ala433Gly)
c.1145C>G (p.Ala382Gly)
gnomAD v4
8g.143728484G=CA1825940798FAM83Hc.977C= (p.Ala326=)
c.1580C= (p.Ala527=)
c.157C=
c.1034C= (p.Ala345=)
c.995C= (p.Ala332=)
c.1298C= (p.Ala433=)
c.1145C= (p.Ala382=)
8g.143728484G>TCA372468957FAM83Hc.977C>A (p.Ala326Glu)
c.1580C>A (p.Ala527Glu)
c.157C>A
c.1034C>A (p.Ala345Glu)
c.995C>A (p.Ala332Glu)
c.1298C>A (p.Ala433Glu)
c.1145C>A (p.Ala382Glu)
gnomAD v4
8g.143728485C>ACA372468958FAM83Hc.976G>T (p.Ala326Ser)
c.1579G>T (p.Ala527Ser)
c.156G>T
c.1033G>T (p.Ala345Ser)
c.994G>T (p.Ala332Ser)
c.1297G>T (p.Ala433Ser)
c.1144G>T (p.Ala382Ser)
gnomAD v4
8g.143728485C=CA1825940799FAM83Hc.976G= (p.Ala326=)
c.1579G= (p.Ala527=)
c.156G=
c.1033G= (p.Ala345=)
c.994G= (p.Ala332=)
c.1297G= (p.Ala433=)
c.1144G= (p.Ala382=)
8g.143728485C>GCA372468959FAM83Hc.976G>C (p.Ala326Pro)
c.1579G>C (p.Ala527Pro)
c.156G>C
c.1033G>C (p.Ala345Pro)
c.994G>C (p.Ala332Pro)
c.1297G>C (p.Ala433Pro)
c.1144G>C (p.Ala382Pro)
8g.143728485C>TCA372468960FAM83Hc.976G>A (p.Ala326Thr)
c.1579G>A (p.Ala527Thr)
c.156G>A
c.1033G>A (p.Ala345Thr)
c.994G>A (p.Ala332Thr)
c.1297G>A (p.Ala433Thr)
c.1144G>A (p.Ala382Thr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.143728486T>ACA463519764FAM83Hc.975A>T (p.Arg325=)
c.1578A>T (p.Arg526=)
c.155A>T
c.1032A>T (p.Arg344=)
c.993A>T (p.Arg331=)
c.1296A>T (p.Arg432=)
c.1143A>T (p.Arg381=)
8g.143728486T>CCA463519766FAM83Hc.975A>G (p.Arg325=)
c.1578A>G (p.Arg526=)
c.155A>G
c.1032A>G (p.Arg344=)
c.993A>G (p.Arg331=)
c.1296A>G (p.Arg432=)
c.1143A>G (p.Arg381=)
gnomAD v4
8g.143728486T>GCA463519765FAM83Hc.975A>C (p.Arg325=)
c.1578A>C (p.Arg526=)
c.155A>C
c.1032A>C (p.Arg344=)
c.993A>C (p.Arg331=)
c.1296A>C (p.Arg432=)
c.1143A>C (p.Arg381=)
8g.143728487C>ACA372468961FAM83Hc.974G>T (p.Arg325Leu)
c.1577G>T (p.Arg526Leu)
c.154G>T
c.1031G>T (p.Arg344Leu)
c.992G>T (p.Arg331Leu)
c.1295G>T (p.Arg432Leu)
c.1142G>T (p.Arg381Leu)
gnomAD v4
8g.143728487C>GCA372468963FAM83Hc.974G>C (p.Arg325Pro)
c.1577G>C (p.Arg526Pro)
c.154G>C
c.1031G>C (p.Arg344Pro)
c.992G>C (p.Arg331Pro)
c.1295G>C (p.Arg432Pro)
c.1142G>C (p.Arg381Pro)
gnomAD v4
8g.143728487C>TCA372468962FAM83Hc.974G>A (p.Arg325Gln)
c.1577G>A (p.Arg526Gln)
c.154G>A
c.1031G>A (p.Arg344Gln)
c.992G>A (p.Arg331Gln)
c.1295G>A (p.Arg432Gln)
c.1142G>A (p.Arg381Gln)
gnomAD v4 COSMIC
8g.143728488G>ACA114491FAM83Hc.973C>T (p.Arg325Ter)
c.1576C>T (p.Arg526Ter)
c.153C>T
c.1030C>T (p.Arg344Ter)
c.991C>T (p.Arg331Ter)
c.1294C>T (p.Arg432Ter)
c.1141C>T (p.Arg381Ter)
ClinVar dbSNP gnomAD v4
8g.143728488G>CCA372468964FAM83Hc.973C>G (p.Arg325Gly)
c.1576C>G (p.Arg526Gly)
c.153C>G
c.1030C>G (p.Arg344Gly)
c.991C>G (p.Arg331Gly)
c.1294C>G (p.Arg432Gly)
c.1141C>G (p.Arg381Gly)
8g.143728488G=CA1825940800FAM83Hc.973C= (p.Arg325=)
c.1576C= (p.Arg526=)
c.153C=
c.1030C= (p.Arg344=)
c.991C= (p.Arg331=)
c.1294C= (p.Arg432=)
c.1141C= (p.Arg381=)
8g.143728488G>TCA463519771FAM83Hc.973C>A (p.Arg325=)
c.1576C>A (p.Arg526=)
c.153C>A
c.1030C>A (p.Arg344=)
c.991C>A (p.Arg331=)
c.1294C>A (p.Arg432=)
c.1141C>A (p.Arg381=)
gnomAD v4
8g.143728489T>ACA372468965FAM83Hc.972A>T (p.Lys324Asn)
c.1575A>T (p.Lys525Asn)
c.152A>T
c.1029A>T (p.Lys343Asn)
c.990A>T (p.Lys330Asn)
c.1293A>T (p.Lys431Asn)
c.1140A>T (p.Lys380Asn)
8g.143728489T>CCA463519774FAM83Hc.972A>G (p.Lys324=)
c.1575A>G (p.Lys525=)
c.152A>G
c.1029A>G (p.Lys343=)
c.990A>G (p.Lys330=)
c.1293A>G (p.Lys431=)
c.1140A>G (p.Lys380=)
8g.143728489T>GCA372468966FAM83Hc.972A>C (p.Lys324Asn)
c.1575A>C (p.Lys525Asn)
c.152A>C
c.1029A>C (p.Lys343Asn)
c.990A>C (p.Lys330Asn)
c.1293A>C (p.Lys431Asn)
c.1140A>C (p.Lys380Asn)
8g.143728490T>ACA372468967FAM83Hc.971A>T (p.Lys324Ile)
c.1574A>T (p.Lys525Ile)
c.151A>T
c.1028A>T (p.Lys343Ile)
c.989A>T (p.Lys330Ile)
c.1292A>T (p.Lys431Ile)
c.1139A>T (p.Lys380Ile)
8g.143728490T>CCA372468968FAM83Hc.971A>G (p.Lys324Arg)
c.1574A>G (p.Lys525Arg)
c.151A>G
c.1028A>G (p.Lys343Arg)
c.989A>G (p.Lys330Arg)
c.1292A>G (p.Lys431Arg)
c.1139A>G (p.Lys380Arg)
dbSNP gnomAD v3 gnomAD v4
8g.143728490T>GCA372468969FAM83Hc.971A>C (p.Lys324Thr)
c.1574A>C (p.Lys525Thr)
c.151A>C
c.1028A>C (p.Lys343Thr)
c.989A>C (p.Lys330Thr)
c.1292A>C (p.Lys431Thr)
c.1139A>C (p.Lys380Thr)
8g.143728490T=CA1825940801FAM83Hc.971A= (p.Lys324=)
c.1574A= (p.Lys525=)
c.151A=
c.1028A= (p.Lys343=)
c.989A= (p.Lys330=)
c.1292A= (p.Lys431=)
c.1139A= (p.Lys380=)
8g.143728491T>ACA372468970FAM83Hc.970A>T (p.Lys324Ter)
c.1573A>T (p.Lys525Ter)
c.150A>T
c.1027A>T (p.Lys343Ter)
c.988A>T (p.Lys330Ter)
c.1291A>T (p.Lys431Ter)
c.1138A>T (p.Lys380Ter)
8g.143728491T>CCA372468971FAM83Hc.970A>G (p.Lys324Glu)
c.1573A>G (p.Lys525Glu)
c.150A>G
c.1027A>G (p.Lys343Glu)
c.988A>G (p.Lys330Glu)
c.1291A>G (p.Lys431Glu)
c.1138A>G (p.Lys380Glu)
8g.143728491T>GCA372468972FAM83Hc.970A>C (p.Lys324Gln)
c.1573A>C (p.Lys525Gln)
c.150A>C
c.1027A>C (p.Lys343Gln)
c.988A>C (p.Lys330Gln)
c.1291A>C (p.Lys431Gln)
c.1138A>C (p.Lys380Gln)
8g.143728492A>CCA463519781FAM83Hc.969T>G (p.Pro323=)
c.1572T>G (p.Pro524=)
c.149T>G
c.1026T>G (p.Pro342=)
c.987T>G (p.Pro329=)
c.1290T>G (p.Pro430=)
c.1137T>G (p.Pro379=)
8g.143728492A>GCA463519780FAM83Hc.969T>C (p.Pro323=)
c.1572T>C (p.Pro524=)
c.149T>C
c.1026T>C (p.Pro342=)
c.987T>C (p.Pro329=)
c.1290T>C (p.Pro430=)
c.1137T>C (p.Pro379=)
gnomAD v4
8g.143728492A>TCA463519778FAM83Hc.969T>A (p.Pro323=)
c.1572T>A (p.Pro524=)
c.149T>A
c.1026T>A (p.Pro342=)
c.987T>A (p.Pro329=)
c.1290T>A (p.Pro430=)
c.1137T>A (p.Pro379=)
gnomAD v4
8g.143728493G>ACA372468973FAM83Hc.968C>T (p.Pro323Leu)
c.1571C>T (p.Pro524Leu)
c.148C>T
c.1025C>T (p.Pro342Leu)
c.986C>T (p.Pro329Leu)
c.1289C>T (p.Pro430Leu)
c.1136C>T (p.Pro379Leu)
8g.143728493G>CCA372468974FAM83Hc.968C>G (p.Pro323Arg)
c.1571C>G (p.Pro524Arg)
c.148C>G
c.1025C>G (p.Pro342Arg)
c.986C>G (p.Pro329Arg)
c.1289C>G (p.Pro430Arg)
c.1136C>G (p.Pro379Arg)
dbSNP
8g.143728493G=CA1825940802FAM83Hc.968C= (p.Pro323=)
c.1571C= (p.Pro524=)
c.148C=
c.1025C= (p.Pro342=)
c.986C= (p.Pro329=)
c.1289C= (p.Pro430=)
c.1136C= (p.Pro379=)
8g.143728493G>TCA372468975FAM83Hc.968C>A (p.Pro323His)
c.1571C>A (p.Pro524His)
c.148C>A
c.1025C>A (p.Pro342His)
c.986C>A (p.Pro329His)
c.1289C>A (p.Pro430His)
c.1136C>A (p.Pro379His)
gnomAD v4
8g.143728494G>ACA4917540FAM83Hc.967C>T (p.Pro323Ser)
c.1570C>T (p.Pro524Ser)
c.147C>T
c.1024C>T (p.Pro342Ser)
c.985C>T (p.Pro329Ser)
c.1288C>T (p.Pro430Ser)
c.1135C>T (p.Pro379Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.143728494G>CCA372468976FAM83Hc.967C>G (p.Pro323Ala)
c.1570C>G (p.Pro524Ala)
c.147C>G
c.1024C>G (p.Pro342Ala)
c.985C>G (p.Pro329Ala)
c.1288C>G (p.Pro430Ala)
c.1135C>G (p.Pro379Ala)
8g.143728494G=CA1825940803FAM83Hc.967C= (p.Pro323=)
c.1570C= (p.Pro524=)
c.147C=
c.1024C= (p.Pro342=)
c.985C= (p.Pro329=)
c.1288C= (p.Pro430=)
c.1135C= (p.Pro379=)
8g.143728494G>TCA372468977FAM83Hc.967C>A (p.Pro323Thr)
c.1570C>A (p.Pro524Thr)
c.147C>A
c.1024C>A (p.Pro342Thr)
c.985C>A (p.Pro329Thr)
c.1288C>A (p.Pro430Thr)
c.1135C>A (p.Pro379Thr)
8g.143728495G>ACA463519793FAM83Hc.966C>T (p.Phe322=)
c.1569C>T (p.Phe523=)
c.146C>T
c.1023C>T (p.Phe341=)
c.984C>T (p.Phe328=)
c.1287C>T (p.Phe429=)
c.1134C>T (p.Phe378=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.143728495G>CCA4917541FAM83Hc.966C>G (p.Phe322Leu)
c.1569C>G (p.Phe523Leu)
c.146C>G
c.1023C>G (p.Phe341Leu)
c.984C>G (p.Phe328Leu)
c.1287C>G (p.Phe429Leu)
c.1134C>G (p.Phe378Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.143728495G=CA1825940804FAM83Hc.966C= (p.Phe322=)
c.1569C= (p.Phe523=)
c.146C=
c.1023C= (p.Phe341=)
c.984C= (p.Phe328=)
c.1287C= (p.Phe429=)
c.1134C= (p.Phe378=)
8g.143728495G>TCA372468978FAM83Hc.966C>A (p.Phe322Leu)
c.1569C>A (p.Phe523Leu)
c.146C>A
c.1023C>A (p.Phe341Leu)
c.984C>A (p.Phe328Leu)
c.1287C>A (p.Phe429Leu)
c.1134C>A (p.Phe378Leu)
gnomAD v4
8g.143728496A>CCA372468979FAM83Hc.965T>G (p.Phe322Cys)
c.1568T>G (p.Phe523Cys)
c.145T>G
c.1022T>G (p.Phe341Cys)
c.983T>G (p.Phe328Cys)
c.1286T>G (p.Phe429Cys)
c.1133T>G (p.Phe378Cys)
8g.143728496A>GCA372468980FAM83Hc.965T>C (p.Phe322Ser)
c.1568T>C (p.Phe523Ser)
c.145T>C
c.1022T>C (p.Phe341Ser)
c.983T>C (p.Phe328Ser)
c.1286T>C (p.Phe429Ser)
c.1133T>C (p.Phe378Ser)
gnomAD v4
8g.143728496A>TCA372468981FAM83Hc.965T>A (p.Phe322Tyr)
c.1568T>A (p.Phe523Tyr)
c.145T>A
c.1022T>A (p.Phe341Tyr)
c.983T>A (p.Phe328Tyr)
c.1286T>A (p.Phe429Tyr)
c.1133T>A (p.Phe378Tyr)
8g.143728497A>CCA372468982FAM83Hc.964T>G (p.Phe322Val)
c.1567T>G (p.Phe523Val)
c.144T>G
c.1021T>G (p.Phe341Val)
c.982T>G (p.Phe328Val)
c.1285T>G (p.Phe429Val)
c.1132T>G (p.Phe378Val)
8g.143728497A>GCA372468983FAM83Hc.964T>C (p.Phe322Leu)
c.1567T>C (p.Phe523Leu)
c.144T>C
c.1021T>C (p.Phe341Leu)
c.982T>C (p.Phe328Leu)
c.1285T>C (p.Phe429Leu)
c.1132T>C (p.Phe378Leu)
gnomAD v4
8g.143728497A>TCA372468984FAM83Hc.964T>A (p.Phe322Ile)
c.1567T>A (p.Phe523Ile)
c.144T>A
c.1021T>A (p.Phe341Ile)
c.982T>A (p.Phe328Ile)
c.1285T>A (p.Phe429Ile)
c.1132T>A (p.Phe378Ile)
8g.143728499_143728501delCA2579273275FAM83Hc.962_964del (p.Ser321del)
c.1565_1567del (p.Ser522del)
c.142_144del
c.1019_1021del (p.Ser340del)
c.980_982del (p.Ser327del)
c.1283_1285del (p.Ser428del)
c.1130_1132del (p.Ser377del)
8g.143728498G>ACA4917542FAM83Hc.963C>T (p.Ser321=)
c.1566C>T (p.Ser522=)
c.143C>T
c.1020C>T (p.Ser340=)
c.981C>T (p.Ser327=)
c.1284C>T (p.Ser428=)
c.1131C>T (p.Ser377=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.143728498G>CCA463519801FAM83Hc.963C>G (p.Ser321=)
c.1566C>G (p.Ser522=)
c.143C>G
c.1020C>G (p.Ser340=)
c.981C>G (p.Ser327=)
c.1284C>G (p.Ser428=)
c.1131C>G (p.Ser377=)
8g.143728498G=CA1825940805FAM83Hc.963C= (p.Ser321=)
c.1566C= (p.Ser522=)
c.143C=
c.1020C= (p.Ser340=)
c.981C= (p.Ser327=)
c.1284C= (p.Ser428=)
c.1131C= (p.Ser377=)
8g.143728498G>TCA463519802FAM83Hc.963C>A (p.Ser321=)
c.1566C>A (p.Ser522=)
c.143C>A
c.1020C>A (p.Ser340=)
c.981C>A (p.Ser327=)
c.1284C>A (p.Ser428=)
c.1131C>A (p.Ser377=)
gnomAD v4
8g.143728499G>ACA372468985FAM83Hc.962C>T (p.Ser321Phe)
c.1565C>T (p.Ser522Phe)
c.142C>T
c.1019C>T (p.Ser340Phe)
c.980C>T (p.Ser327Phe)
c.1283C>T (p.Ser428Phe)
c.1130C>T (p.Ser377Phe)
gnomAD v4
8g.143728499G>CCA372468986FAM83Hc.962C>G (p.Ser321Cys)
c.1565C>G (p.Ser522Cys)
c.142C>G
c.1019C>G (p.Ser340Cys)
c.980C>G (p.Ser327Cys)
c.1283C>G (p.Ser428Cys)
c.1130C>G (p.Ser377Cys)
gnomAD v4
8g.143728499G>TCA372468987FAM83Hc.962C>A (p.Ser321Tyr)
c.1565C>A (p.Ser522Tyr)
c.142C>A
c.1019C>A (p.Ser340Tyr)
c.980C>A (p.Ser327Tyr)
c.1283C>A (p.Ser428Tyr)
c.1130C>A (p.Ser377Tyr)
gnomAD v4
8g.143728500A>CCA372468988FAM83Hc.961T>G (p.Ser321Ala)
c.1564T>G (p.Ser522Ala)
c.141T>G
c.1018T>G (p.Ser340Ala)
c.979T>G (p.Ser327Ala)
c.1282T>G (p.Ser428Ala)
c.1129T>G (p.Ser377Ala)
8g.143728500A>GCA372468990FAM83Hc.961T>C (p.Ser321Pro)
c.1564T>C (p.Ser522Pro)
c.141T>C
c.1018T>C (p.Ser340Pro)
c.979T>C (p.Ser327Pro)
c.1282T>C (p.Ser428Pro)
c.1129T>C (p.Ser377Pro)
gnomAD v4
8g.143728500A>TCA372468989FAM83Hc.961T>A (p.Ser321Thr)
c.1564T>A (p.Ser522Thr)
c.141T>A
c.1018T>A (p.Ser340Thr)
c.979T>A (p.Ser327Thr)
c.1282T>A (p.Ser428Thr)
c.1129T>A (p.Ser377Thr)
8g.143728501G>ACA463519812FAM83Hc.960C>T (p.Phe320=)
c.1563C>T (p.Phe521=)
c.140C>T
c.1017C>T (p.Phe339=)
c.978C>T (p.Phe326=)
c.1281C>T (p.Phe427=)
c.1128C>T (p.Phe376=)
dbSNP gnomAD v2 gnomAD v4
8g.143728501G>CCA372468991FAM83Hc.960C>G (p.Phe320Leu)
c.1563C>G (p.Phe521Leu)
c.140C>G
c.1017C>G (p.Phe339Leu)
c.978C>G (p.Phe326Leu)
c.1281C>G (p.Phe427Leu)
c.1128C>G (p.Phe376Leu)
8g.143728501G=CA1825940806FAM83Hc.960C= (p.Phe320=)
c.1563C= (p.Phe521=)
c.140C=
c.1017C= (p.Phe339=)
c.978C= (p.Phe326=)
c.1281C= (p.Phe427=)
c.1128C= (p.Phe376=)
8g.143728501G>TCA372468992FAM83Hc.960C>A (p.Phe320Leu)
c.1563C>A (p.Phe521Leu)
c.140C>A
c.1017C>A (p.Phe339Leu)
c.978C>A (p.Phe326Leu)
c.1281C>A (p.Phe427Leu)
c.1128C>A (p.Phe376Leu)
gnomAD v4
8g.143728502A>CCA372468993FAM83Hc.959T>G (p.Phe320Cys)
c.1562T>G (p.Phe521Cys)
c.139T>G
c.1016T>G (p.Phe339Cys)
c.977T>G (p.Phe326Cys)
c.1280T>G (p.Phe427Cys)
c.1127T>G (p.Phe376Cys)
8g.143728502A>GCA372468994FAM83Hc.959T>C (p.Phe320Ser)
c.1562T>C (p.Phe521Ser)
c.139T>C
c.1016T>C (p.Phe339Ser)
c.977T>C (p.Phe326Ser)
c.1280T>C (p.Phe427Ser)
c.1127T>C (p.Phe376Ser)
8g.143728502A>TCA372468995FAM83Hc.959T>A (p.Phe320Tyr)
c.1562T>A (p.Phe521Tyr)
c.139T>A
c.1016T>A (p.Phe339Tyr)
c.977T>A (p.Phe326Tyr)
c.1280T>A (p.Phe427Tyr)
c.1127T>A (p.Phe376Tyr)
gnomAD v4
8g.143728503A>CCA372468996FAM83Hc.958T>G (p.Phe320Val)
c.1561T>G (p.Phe521Val)
c.138T>G
c.1015T>G (p.Phe339Val)
c.976T>G (p.Phe326Val)
c.1279T>G (p.Phe427Val)
c.1126T>G (p.Phe376Val)
8g.143728503A>GCA372468997FAM83Hc.958T>C (p.Phe320Leu)
c.1561T>C (p.Phe521Leu)
c.138T>C
c.1015T>C (p.Phe339Leu)
c.976T>C (p.Phe326Leu)
c.1279T>C (p.Phe427Leu)
c.1126T>C (p.Phe376Leu)
8g.143728503A>TCA372468998FAM83Hc.958T>A (p.Phe320Ile)
c.1561T>A (p.Phe521Ile)
c.138T>A
c.1015T>A (p.Phe339Ile)
c.976T>A (p.Phe326Ile)
c.1279T>A (p.Phe427Ile)
c.1126T>A (p.Phe376Ile)
gnomAD v4
8g.143728504G>ACA463519819FAM83Hc.957C>T (p.Pro319=)
c.1560C>T (p.Pro520=)
c.137C>T
c.1014C>T (p.Pro338=)
c.975C>T (p.Pro325=)
c.1278C>T (p.Pro426=)
c.1125C>T (p.Pro375=)
gnomAD v4
8g.143728504G>CCA463519821FAM83Hc.957C>G (p.Pro319=)
c.1560C>G (p.Pro520=)
c.137C>G
c.1014C>G (p.Pro338=)
c.975C>G (p.Pro325=)
c.1278C>G (p.Pro426=)
c.1125C>G (p.Pro375=)
8g.143728504G>TCA463519822FAM83Hc.957C>A (p.Pro319=)
c.1560C>A (p.Pro520=)
c.137C>A
c.1014C>A (p.Pro338=)
c.975C>A (p.Pro325=)
c.1278C>A (p.Pro426=)
c.1125C>A (p.Pro375=)
8g.143728505G>ACA4917543FAM83Hc.956C>T (p.Pro319Leu)
c.1559C>T (p.Pro520Leu)
c.136C>T
c.1013C>T (p.Pro338Leu)
c.974C>T (p.Pro325Leu)
c.1277C>T (p.Pro426Leu)
c.1124C>T (p.Pro375Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.143728505G>CCA372468999FAM83Hc.956C>G (p.Pro319Arg)
c.1559C>G (p.Pro520Arg)
c.136C>G
c.1013C>G (p.Pro338Arg)
c.974C>G (p.Pro325Arg)
c.1277C>G (p.Pro426Arg)
c.1124C>G (p.Pro375Arg)
8g.143728505G=CA1825940807FAM83Hc.956C= (p.Pro319=)
c.1559C= (p.Pro520=)
c.136C=
c.1013C= (p.Pro338=)
c.974C= (p.Pro325=)
c.1277C= (p.Pro426=)
c.1124C= (p.Pro375=)
8g.143728505G>TCA372469000FAM83Hc.956C>A (p.Pro319His)
c.1559C>A (p.Pro520His)
c.136C>A
c.1013C>A (p.Pro338His)
c.974C>A (p.Pro325His)
c.1277C>A (p.Pro426His)
c.1124C>A (p.Pro375His)
gnomAD v4
8g.143728506G>ACA372469001FAM83Hc.955C>T (p.Pro319Ser)
c.1558C>T (p.Pro520Ser)
c.135C>T
c.1012C>T (p.Pro338Ser)
c.973C>T (p.Pro325Ser)
c.1276C>T (p.Pro426Ser)
c.1123C>T (p.Pro375Ser)
gnomAD v4
8g.143728506G>CCA4917544FAM83Hc.955C>G (p.Pro319Ala)
c.1558C>G (p.Pro520Ala)
c.135C>G
c.1012C>G (p.Pro338Ala)
c.973C>G (p.Pro325Ala)
c.1276C>G (p.Pro426Ala)
c.1123C>G (p.Pro375Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.143728506G=CA1825940808FAM83Hc.955C= (p.Pro319=)
c.1558C= (p.Pro520=)
c.135C=
c.1012C= (p.Pro338=)
c.973C= (p.Pro325=)
c.1276C= (p.Pro426=)
c.1123C= (p.Pro375=)
8g.143728506G>TCA372469002FAM83Hc.955C>A (p.Pro319Thr)
c.1558C>A (p.Pro520Thr)
c.135C>A
c.1012C>A (p.Pro338Thr)
c.973C>A (p.Pro325Thr)
c.1276C>A (p.Pro426Thr)
c.1123C>A (p.Pro375Thr)
8g.143728507G>ACA463519828FAM83Hc.954C>T (p.Thr318=)
c.1557C>T (p.Thr519=)
c.134C>T
c.1011C>T (p.Thr337=)
c.972C>T (p.Thr324=)
c.1275C>T (p.Thr425=)
c.1122C>T (p.Thr374=)
dbSNP gnomAD v3 gnomAD v4
8g.143728507G>CCA463519829FAM83Hc.954C>G (p.Thr318=)
c.1557C>G (p.Thr519=)
c.134C>G
c.1011C>G (p.Thr337=)
c.972C>G (p.Thr324=)
c.1275C>G (p.Thr425=)
c.1122C>G (p.Thr374=)
gnomAD v4
8g.143728507G=CA1825940809FAM83Hc.954C= (p.Thr318=)
c.1557C= (p.Thr519=)
c.134C=
c.1011C= (p.Thr337=)
c.972C= (p.Thr324=)
c.1275C= (p.Thr425=)
c.1122C= (p.Thr374=)
8g.143728507G>TCA4917545FAM83Hc.954C>A (p.Thr318=)
c.1557C>A (p.Thr519=)
c.134C>A
c.1011C>A (p.Thr337=)
c.972C>A (p.Thr324=)
c.1275C>A (p.Thr425=)
c.1122C>A (p.Thr374=)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.143728508G>ACA372469003FAM83Hc.953C>T (p.Thr318Ile)
c.1556C>T (p.Thr519Ile)
c.133C>T
c.1010C>T (p.Thr337Ile)
c.971C>T (p.Thr324Ile)
c.1274C>T (p.Thr425Ile)
c.1121C>T (p.Thr374Ile)
gnomAD v4
8g.143728508G>CCA372469005FAM83Hc.953C>G (p.Thr318Ser)
c.1556C>G (p.Thr519Ser)
c.133C>G
c.1010C>G (p.Thr337Ser)
c.971C>G (p.Thr324Ser)
c.1274C>G (p.Thr425Ser)
c.1121C>G (p.Thr374Ser)
8g.143728508G>TCA372469004FAM83Hc.953C>A (p.Thr318Asn)
c.1556C>A (p.Thr519Asn)
c.133C>A
c.1010C>A (p.Thr337Asn)
c.971C>A (p.Thr324Asn)
c.1274C>A (p.Thr425Asn)
c.1121C>A (p.Thr374Asn)
gnomAD v4
8g.143728509T>ACA4917546FAM83Hc.952A>T (p.Thr318Ser)
c.1555A>T (p.Thr519Ser)
c.132A>T
c.1009A>T (p.Thr337Ser)
c.970A>T (p.Thr324Ser)
c.1273A>T (p.Thr425Ser)
c.1120A>T (p.Thr374Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.143728509T>CCA372469006FAM83Hc.952A>G (p.Thr318Ala)
c.1555A>G (p.Thr519Ala)
c.132A>G
c.1009A>G (p.Thr337Ala)
c.970A>G (p.Thr324Ala)
c.1273A>G (p.Thr425Ala)
c.1120A>G (p.Thr374Ala)
8g.143728509T>GCA372469007FAM83Hc.952A>C (p.Thr318Pro)
c.1555A>C (p.Thr519Pro)
c.132A>C
c.1009A>C (p.Thr337Pro)
c.970A>C (p.Thr324Pro)
c.1273A>C (p.Thr425Pro)
c.1120A>C (p.Thr374Pro)
8g.143728509T=CA1825940810FAM83Hc.952A= (p.Thr318=)
c.1555A= (p.Thr519=)
c.132A=
c.1009A= (p.Thr337=)
c.970A= (p.Thr324=)
c.1273A= (p.Thr425=)
c.1120A= (p.Thr374=)
8g.143728510T>ACA463519834FAM83Hc.951A>T (p.Pro317=)
c.1554A>T (p.Pro518=)
c.131A>T
c.1008A>T (p.Pro336=)
c.969A>T (p.Pro323=)
c.1272A>T (p.Pro424=)
c.1119A>T (p.Pro373=)
8g.143728510T>CCA4917547FAM83Hc.951A>G (p.Pro317=)
c.1554A>G (p.Pro518=)
c.131A>G
c.1008A>G (p.Pro336=)
c.969A>G (p.Pro323=)
c.1272A>G (p.Pro424=)
c.1119A>G (p.Pro373=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.143728510T>GCA463519837FAM83Hc.951A>C (p.Pro317=)
c.1554A>C (p.Pro518=)
c.131A>C
c.1008A>C (p.Pro336=)
c.969A>C (p.Pro323=)
c.1272A>C (p.Pro424=)
c.1119A>C (p.Pro373=)
8g.143728510T=CA1825940811FAM83Hc.951A= (p.Pro317=)
c.1554A= (p.Pro518=)
c.131A=
c.1008A= (p.Pro336=)
c.969A= (p.Pro323=)
c.1272A= (p.Pro424=)
c.1119A= (p.Pro373=)
8g.143728510_143728513delCA2688981240FAM83Hc.948_951del (p.Thr318ProfsTer?)
c.1551_1554del (p.Thr519ProfsTer?)
c.128_131del
c.1005_1008del (p.Thr337ProfsTer?)
c.966_969del (p.Thr324ProfsTer?)
c.1269_1272del (p.Thr425ProfsTer?)
c.1116_1119del (p.Thr374ProfsTer?)
gnomAD v4
8g.143728511G>ACA372469008FAM83Hc.950C>T (p.Pro317Leu)
c.1553C>T (p.Pro518Leu)
c.130C>T
c.1007C>T (p.Pro336Leu)
c.968C>T (p.Pro323Leu)
c.1271C>T (p.Pro424Leu)
c.1118C>T (p.Pro373Leu)
gnomAD v4
8g.143728511G>CCA372469009FAM83Hc.950C>G (p.Pro317Arg)
c.1553C>G (p.Pro518Arg)
c.130C>G
c.1007C>G (p.Pro336Arg)
c.968C>G (p.Pro323Arg)
c.1271C>G (p.Pro424Arg)
c.1118C>G (p.Pro373Arg)
8g.143728511G=CA1825940812FAM83Hc.950C= (p.Pro317=)
c.1553C= (p.Pro518=)
c.130C=
c.1007C= (p.Pro336=)
c.968C= (p.Pro323=)
c.1271C= (p.Pro424=)
c.1118C= (p.Pro373=)
8g.143728511G>TCA372469010FAM83Hc.950C>A (p.Pro317Gln)
c.1553C>A (p.Pro518Gln)
c.130C>A
c.1007C>A (p.Pro336Gln)
c.968C>A (p.Pro323Gln)
c.1271C>A (p.Pro424Gln)
c.1118C>A (p.Pro373Gln)
dbSNP gnomAD v3 gnomAD v4
8g.143728512G>ACA372469011FAM83Hc.949C>T (p.Pro317Ser)
c.1552C>T (p.Pro518Ser)
c.129C>T
c.1006C>T (p.Pro336Ser)
c.967C>T (p.Pro323Ser)
c.1270C>T (p.Pro424Ser)
c.1117C>T (p.Pro373Ser)
8g.143728512G>CCA4917548FAM83Hc.949C>G (p.Pro317Ala)
c.1552C>G (p.Pro518Ala)
c.129C>G
c.1006C>G (p.Pro336Ala)
c.967C>G (p.Pro323Ala)
c.1270C>G (p.Pro424Ala)
c.1117C>G (p.Pro373Ala)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.143728512G=CA1825940813FAM83Hc.949C= (p.Pro317=)
c.1552C= (p.Pro518=)
c.129C=
c.1006C= (p.Pro336=)
c.967C= (p.Pro323=)
c.1270C= (p.Pro424=)
c.1117C= (p.Pro373=)
8g.143728512G>TCA372469012FAM83Hc.949C>A (p.Pro317Thr)
c.1552C>A (p.Pro518Thr)
c.129C>A
c.1006C>A (p.Pro336Thr)
c.967C>A (p.Pro323Thr)
c.1270C>A (p.Pro424Thr)
c.1117C>A (p.Pro373Thr)
8g.143728513C>ACA463519840FAM83Hc.948G>T (p.Ala316=)
c.1551G>T (p.Ala517=)
c.128G>T
c.1005G>T (p.Ala335=)
c.966G>T (p.Ala322=)
c.1269G>T (p.Ala423=)
c.1116G>T (p.Ala372=)
dbSNP gnomAD v2 gnomAD v4
8g.143728513C=CA1825940814FAM83Hc.948G= (p.Ala316=)
c.1551G= (p.Ala517=)
c.128G=
c.1005G= (p.Ala335=)
c.966G= (p.Ala322=)
c.1269G= (p.Ala423=)
c.1116G= (p.Ala372=)
8g.143728513C>GCA463519843FAM83Hc.948G>C (p.Ala316=)
c.1551G>C (p.Ala517=)
c.128G>C
c.1005G>C (p.Ala335=)
c.966G>C (p.Ala322=)
c.1269G>C (p.Ala423=)
c.1116G>C (p.Ala372=)
dbSNP gnomAD v4
8g.143728513C>TCA187605572FAM83Hc.948G>A (p.Ala316=)
c.1551G>A (p.Ala517=)
c.128G>A
c.1005G>A (p.Ala335=)
c.966G>A (p.Ala322=)
c.1269G>A (p.Ala423=)
c.1116G>A (p.Ala372=)
dbSNP gnomAD v4
8g.143728514G>ACA372469015FAM83Hc.947C>T (p.Ala316Val)
c.1550C>T (p.Ala517Val)
c.127C>T
c.1004C>T (p.Ala335Val)
c.965C>T (p.Ala322Val)
c.1268C>T (p.Ala423Val)
c.1115C>T (p.Ala372Val)
dbSNP gnomAD v2 gnomAD v4
8g.143728514G>CCA372469014FAM83Hc.947C>G (p.Ala316Gly)
c.1550C>G (p.Ala517Gly)
c.127C>G
c.1004C>G (p.Ala335Gly)
c.965C>G (p.Ala322Gly)
c.1268C>G (p.Ala423Gly)
c.1115C>G (p.Ala372Gly)
8g.143728514G=CA1825940815FAM83Hc.947C= (p.Ala316=)
c.1550C= (p.Ala517=)
c.127C=
c.1004C= (p.Ala335=)
c.965C= (p.Ala322=)
c.1268C= (p.Ala423=)
c.1115C= (p.Ala372=)
8g.143728514G>TCA372469013FAM83Hc.947C>A (p.Ala316Glu)
c.1550C>A (p.Ala517Glu)
c.127C>A
c.1004C>A (p.Ala335Glu)
c.965C>A (p.Ala322Glu)
c.1268C>A (p.Ala423Glu)
c.1115C>A (p.Ala372Glu)
dbSNP gnomAD v4
8g.143728515C>ACA4917549FAM83Hc.946G>T (p.Ala316Ser)
c.1549G>T (p.Ala517Ser)
c.126G>T
c.1003G>T (p.Ala335Ser)
c.964G>T (p.Ala322Ser)
c.1267G>T (p.Ala423Ser)
c.1114G>T (p.Ala372Ser)
dbSNP ExAC gnomAD v4
8g.143728515C=CA1825940816FAM83Hc.946G= (p.Ala316=)
c.1549G= (p.Ala517=)
c.126G=
c.1003G= (p.Ala335=)
c.964G= (p.Ala322=)
c.1267G= (p.Ala423=)
c.1114G= (p.Ala372=)
8g.143728515C>GCA372469016FAM83Hc.946G>C (p.Ala316Pro)
c.1549G>C (p.Ala517Pro)
c.126G>C
c.1003G>C (p.Ala335Pro)
c.964G>C (p.Ala322Pro)
c.1267G>C (p.Ala423Pro)
c.1114G>C (p.Ala372Pro)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.143728515C>TCA372469017FAM83Hc.946G>A (p.Ala316Thr)
c.1549G>A (p.Ala517Thr)
c.126G>A
c.1003G>A (p.Ala335Thr)
c.964G>A (p.Ala322Thr)
c.1267G>A (p.Ala423Thr)
c.1114G>A (p.Ala372Thr)
gnomAD v4
8g.143728516C>ACA463519851FAM83Hc.945G>T (p.Gly315=)
c.1548G>T (p.Gly516=)
c.125G>T
c.1002G>T (p.Gly334=)
c.963G>T (p.Gly321=)
c.1266G>T (p.Gly422=)
c.1113G>T (p.Gly371=)
gnomAD v4
8g.143728516C=CA1825940817FAM83Hc.945G= (p.Gly315=)
c.1548G= (p.Gly516=)
c.125G=
c.1002G= (p.Gly334=)
c.963G= (p.Gly321=)
c.1266G= (p.Gly422=)
c.1113G= (p.Gly371=)
8g.143728516C>GCA463519852FAM83Hc.945G>C (p.Gly315=)
c.1548G>C (p.Gly516=)
c.125G>C
c.1002G>C (p.Gly334=)
c.963G>C (p.Gly321=)
c.1266G>C (p.Gly422=)
c.1113G>C (p.Gly371=)
8g.143728516C>TCA4917550FAM83Hc.945G>A (p.Gly315=)
c.1548G>A (p.Gly516=)
c.125G>A
c.1002G>A (p.Gly334=)
c.963G>A (p.Gly321=)
c.1266G>A (p.Gly422=)
c.1113G>A (p.Gly371=)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.143728517C>ACA372469018FAM83Hc.944G>T (p.Gly315Val)
c.1547G>T (p.Gly516Val)
c.124G>T
c.1001G>T (p.Gly334Val)
c.962G>T (p.Gly321Val)
c.1265G>T (p.Gly422Val)
c.1112G>T (p.Gly371Val)
gnomAD v4
8g.143728517C>GCA372469019FAM83Hc.944G>C (p.Gly315Ala)
c.1547G>C (p.Gly516Ala)
c.124G>C
c.1001G>C (p.Gly334Ala)
c.962G>C (p.Gly321Ala)
c.1265G>C (p.Gly422Ala)
c.1112G>C (p.Gly371Ala)
dbSNP
8g.143728517C>TCA372469020FAM83Hc.944G>A (p.Gly315Glu)
c.1547G>A (p.Gly516Glu)
c.124G>A
c.1001G>A (p.Gly334Glu)
c.962G>A (p.Gly321Glu)
c.1265G>A (p.Gly422Glu)
c.1112G>A (p.Gly371Glu)
gnomAD v4
8g.143728518C>ACA372469021FAM83Hc.943G>T (p.Gly315Trp)
c.1546G>T (p.Gly516Trp)
c.123G>T
c.1000G>T (p.Gly334Trp)
c.961G>T (p.Gly321Trp)
c.1264G>T (p.Gly422Trp)
c.1111G>T (p.Gly371Trp)
gnomAD v4
8g.143728518C=CA1825940818FAM83Hc.943G= (p.Gly315=)
c.1546G= (p.Gly516=)
c.123G=
c.1000G= (p.Gly334=)
c.961G= (p.Gly321=)
c.1264G= (p.Gly422=)
c.1111G= (p.Gly371=)
8g.143728518C>GCA372469022FAM83Hc.943G>C (p.Gly315Arg)
c.1546G>C (p.Gly516Arg)
c.123G>C
c.1000G>C (p.Gly334Arg)
c.961G>C (p.Gly321Arg)
c.1264G>C (p.Gly422Arg)
c.1111G>C (p.Gly371Arg)
gnomAD v4
8g.143728518C>TCA372469023FAM83Hc.943G>A (p.Gly315Arg)
c.1546G>A (p.Gly516Arg)
c.123G>A
c.1000G>A (p.Gly334Arg)
c.961G>A (p.Gly321Arg)
c.1264G>A (p.Gly422Arg)
c.1111G>A (p.Gly371Arg)
dbSNP gnomAD v3 gnomAD v4
8g.143728519G>ACA463519860FAM83Hc.942C>T (p.Val314=)
c.1545C>T (p.Val515=)
c.122C>T
c.999C>T (p.Val333=)
c.960C>T (p.Val320=)
c.1263C>T (p.Val421=)
c.1110C>T (p.Val370=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.143728519G>CCA463519861FAM83Hc.942C>G (p.Val314=)
c.1545C>G (p.Val515=)
c.122C>G
c.999C>G (p.Val333=)
c.960C>G (p.Val320=)
c.1263C>G (p.Val421=)
c.1110C>G (p.Val370=)
8g.143728519G=CA1825940819FAM83Hc.942C= (p.Val314=)
c.1545C= (p.Val515=)
c.122C=
c.999C= (p.Val333=)
c.960C= (p.Val320=)
c.1263C= (p.Val421=)
c.1110C= (p.Val370=)
8g.143728519G>TCA463519862FAM83Hc.942C>A (p.Val314=)
c.1545C>A (p.Val515=)
c.122C>A
c.999C>A (p.Val333=)
c.960C>A (p.Val320=)
c.1263C>A (p.Val421=)
c.1110C>A (p.Val370=)
gnomAD v4
8g.143728520A>CCA372469024FAM83Hc.941T>G (p.Val314Gly)
c.1544T>G (p.Val515Gly)
c.121T>G
c.998T>G (p.Val333Gly)
c.959T>G (p.Val320Gly)
c.1262T>G (p.Val421Gly)
c.1109T>G (p.Val370Gly)
8g.143728520A>GCA372469025FAM83Hc.941T>C (p.Val314Ala)
c.1544T>C (p.Val515Ala)
c.121T>C
c.998T>C (p.Val333Ala)
c.959T>C (p.Val320Ala)
c.1262T>C (p.Val421Ala)
c.1109T>C (p.Val370Ala)
8g.143728520A>TCA372469026FAM83Hc.941T>A (p.Val314Asp)
c.1544T>A (p.Val515Asp)
c.121T>A
c.998T>A (p.Val333Asp)
c.959T>A (p.Val320Asp)
c.1262T>A (p.Val421Asp)
c.1109T>A (p.Val370Asp)
8g.143728521C>ACA372469029FAM83Hc.940G>T (p.Val314Phe)
c.1543G>T (p.Val515Phe)
c.120G>T
c.997G>T (p.Val333Phe)
c.958G>T (p.Val320Phe)
c.1261G>T (p.Val421Phe)
c.1108G>T (p.Val370Phe)
8g.143728521C>GCA372469027FAM83Hc.940G>C (p.Val314Leu)
c.1543G>C (p.Val515Leu)
c.120G>C
c.997G>C (p.Val333Leu)
c.958G>C (p.Val320Leu)
c.1261G>C (p.Val421Leu)
c.1108G>C (p.Val370Leu)
8g.143728521C>TCA372469028FAM83Hc.940G>A (p.Val314Ile)
c.1543G>A (p.Val515Ile)
c.120G>A
c.997G>A (p.Val333Ile)
c.958G>A (p.Val320Ile)
c.1261G>A (p.Val421Ile)
c.1108G>A (p.Val370Ile)
gnomAD v4
8g.143728524delCA2688981256FAM83Hc.940del (p.Val314SerfsTer?)
c.1543del (p.Val515SerfsTer?)
c.120del
c.997del (p.Val333SerfsTer?)
c.958del (p.Val320SerfsTer?)
c.1261del (p.Val421SerfsTer?)
c.1108del (p.Val370SerfsTer?)
gnomAD v4
8g.143728522C>ACA463519867FAM83Hc.939G>T (p.Gly313=)
c.1542G>T (p.Gly514=)
c.119G>T
c.996G>T (p.Gly332=)
c.957G>T (p.Gly319=)
c.1260G>T (p.Gly420=)
c.1107G>T (p.Gly369=)
8g.143728522C=CA1825940820FAM83Hc.939G= (p.Gly313=)
c.1542G= (p.Gly514=)
c.119G=
c.996G= (p.Gly332=)
c.957G= (p.Gly319=)
c.1260G= (p.Gly420=)
c.1107G= (p.Gly369=)
8g.143728522C>GCA463519873FAM83Hc.939G>C (p.Gly313=)
c.1542G>C (p.Gly514=)
c.119G>C
c.996G>C (p.Gly332=)
c.957G>C (p.Gly319=)
c.1260G>C (p.Gly420=)
c.1107G>C (p.Gly369=)
dbSNP gnomAD v4
8g.143728522C>TCA463519872FAM83Hc.939G>A (p.Gly313=)
c.1542G>A (p.Gly514=)
c.119G>A
c.996G>A (p.Gly332=)
c.957G>A (p.Gly319=)
c.1260G>A (p.Gly420=)
c.1107G>A (p.Gly369=)
gnomAD v4
8g.143728526_143728535dupCA2580078633FAM83Hc.930_939dup (p.Val314ArgfsTer14)
c.1533_1542dup (p.Val515ArgfsTer14)
c.110_119dup
c.987_996dup (p.Val333ArgfsTer14)
c.948_957dup (p.Val320ArgfsTer14)
c.1251_1260dup (p.Val421ArgfsTer14)
c.1098_1107dup (p.Val370ArgfsTer14)
ClinVar
8g.143728523C>ACA372469030FAM83Hc.938G>T (p.Gly313Val)
c.1541G>T (p.Gly514Val)
c.118G>T
c.995G>T (p.Gly332Val)
c.956G>T (p.Gly319Val)
c.1259G>T (p.Gly420Val)
c.1106G>T (p.Gly369Val)
8g.143728523C=CA1825940821FAM83Hc.938G= (p.Gly313=)
c.1541G= (p.Gly514=)
c.118G=
c.995G= (p.Gly332=)
c.956G= (p.Gly319=)
c.1259G= (p.Gly420=)
c.1106G= (p.Gly369=)
8g.143728523C>GCA372469031FAM83Hc.938G>C (p.Gly313Ala)
c.1541G>C (p.Gly514Ala)
c.118G>C
c.995G>C (p.Gly332Ala)
c.956G>C (p.Gly319Ala)
c.1259G>C (p.Gly420Ala)
c.1106G>C (p.Gly369Ala)
8g.143728523C>TCA187605581FAM83Hc.938G>A (p.Gly313Glu)
c.1541G>A (p.Gly514Glu)
c.118G>A
c.995G>A (p.Gly332Glu)
c.956G>A (p.Gly319Glu)
c.1259G>A (p.Gly420Glu)
c.1106G>A (p.Gly369Glu)
dbSNP gnomAD v2 gnomAD v4
8g.143728523_143728526delinsCCAGCA1825940822FAM83Hc.935_938delinsCTGG (p.Pro312=)
c.1538_1541delinsCTGG (p.Pro513=)
c.115_118delinsCTGG
c.992_995delinsCTGG (p.Pro331=)
c.953_956delinsCTGG (p.Pro318=)
c.1256_1259delinsCTGG (p.Pro419=)
c.1103_1106delinsCTGG (p.Pro368=)
8g.143728524C>ACA372469033FAM83Hc.937G>T (p.Gly313Trp)
c.1540G>T (p.Gly514Trp)
c.117G>T
c.994G>T (p.Gly332Trp)
c.955G>T (p.Gly319Trp)
c.1258G>T (p.Gly420Trp)
c.1105G>T (p.Gly369Trp)
8g.143728524C>GCA372469034FAM83Hc.937G>C (p.Gly313Arg)
c.1540G>C (p.Gly514Arg)
c.117G>C
c.994G>C (p.Gly332Arg)
c.955G>C (p.Gly319Arg)
c.1258G>C (p.Gly420Arg)
c.1105G>C (p.Gly369Arg)
8g.143728524C>TCA372469036FAM83Hc.937G>A (p.Gly313Arg)
c.1540G>A (p.Gly514Arg)
c.117G>A
c.994G>A (p.Gly332Arg)
c.955G>A (p.Gly319Arg)
c.1258G>A (p.Gly420Arg)
c.1105G>A (p.Gly369Arg)
8g.143728524_143728526delCA1825940823FAM83Hc.935_937del (p.Pro312_Gly313delinsArg)
c.1538_1540del (p.Pro513_Gly514delinsArg)
c.115_117del
c.992_994del (p.Pro331_Gly332delinsArg)
c.953_955del (p.Pro318_Gly319delinsArg)
c.1256_1258del (p.Pro419_Gly420delinsArg)
c.1103_1105del (p.Pro368_Gly369delinsArg)
dbSNP
8g.143728525A>CCA463519880FAM83Hc.936T>G (p.Pro312=)
c.1539T>G (p.Pro513=)
c.116T>G
c.993T>G (p.Pro331=)
c.954T>G (p.Pro318=)
c.1257T>G (p.Pro419=)
c.1104T>G (p.Pro368=)
gnomAD v4
8g.143728525A>GCA463519881FAM83Hc.936T>C (p.Pro312=)
c.1539T>C (p.Pro513=)
c.116T>C
c.993T>C (p.Pro331=)
c.954T>C (p.Pro318=)
c.1257T>C (p.Pro419=)
c.1104T>C (p.Pro368=)
COSMIC
8g.143728525A>TCA463519882FAM83Hc.936T>A (p.Pro312=)
c.1539T>A (p.Pro513=)
c.116T>A
c.993T>A (p.Pro331=)
c.954T>A (p.Pro318=)
c.1257T>A (p.Pro419=)
c.1104T>A (p.Pro368=)
8g.143728526G>ACA372469038FAM83Hc.935C>T (p.Pro312Leu)
c.1538C>T (p.Pro513Leu)
c.115C>T
c.992C>T (p.Pro331Leu)
c.953C>T (p.Pro318Leu)
c.1256C>T (p.Pro419Leu)
c.1103C>T (p.Pro368Leu)
dbSNP
8g.143728526G>CCA372469039FAM83Hc.935C>G (p.Pro312Arg)
c.1538C>G (p.Pro513Arg)
c.115C>G
c.992C>G (p.Pro331Arg)
c.953C>G (p.Pro318Arg)
c.1256C>G (p.Pro419Arg)
c.1103C>G (p.Pro368Arg)
dbSNP gnomAD v3 gnomAD v4
8g.143728526G=CA1825940824FAM83Hc.935C= (p.Pro312=)
c.1538C= (p.Pro513=)
c.115C=
c.992C= (p.Pro331=)
c.953C= (p.Pro318=)
c.1256C= (p.Pro419=)
c.1103C= (p.Pro368=)
8g.143728526G>TCA372469041FAM83Hc.935C>A (p.Pro312His)
c.1538C>A (p.Pro513His)
c.115C>A
c.992C>A (p.Pro331His)
c.953C>A (p.Pro318His)
c.1256C>A (p.Pro419His)
c.1103C>A (p.Pro368His)
gnomAD v4
8g.143728527G>ACA372469043FAM83Hc.934C>T (p.Pro312Ser)
c.1537C>T (p.Pro513Ser)
c.114C>T
c.991C>T (p.Pro331Ser)
c.952C>T (p.Pro318Ser)
c.1255C>T (p.Pro419Ser)
c.1102C>T (p.Pro368Ser)
dbSNP gnomAD v2 gnomAD v4
8g.143728527G>CCA372469045FAM83Hc.934C>G (p.Pro312Ala)
c.1537C>G (p.Pro513Ala)
c.114C>G
c.991C>G (p.Pro331Ala)
c.952C>G (p.Pro318Ala)
c.1255C>G (p.Pro419Ala)
c.1102C>G (p.Pro368Ala)
8g.143728527G=CA1825940825FAM83Hc.934C= (p.Pro312=)
c.1537C= (p.Pro513=)
c.114C=
c.991C= (p.Pro331=)
c.952C= (p.Pro318=)
c.1255C= (p.Pro419=)
c.1102C= (p.Pro368=)
8g.143728527G>TCA372469046FAM83Hc.934C>A (p.Pro312Thr)
c.1537C>A (p.Pro513Thr)
c.114C>A
c.991C>A (p.Pro331Thr)
c.952C>A (p.Pro318Thr)
c.1255C>A (p.Pro419Thr)
c.1102C>A (p.Pro368Thr)
gnomAD v4
8g.143728528G>ACA463519887FAM83Hc.933C>T (p.Val311=)
c.1536C>T (p.Val512=)
c.113C>T
c.990C>T (p.Val330=)
c.951C>T (p.Val317=)
c.1254C>T (p.Val418=)
c.1101C>T (p.Val367=)
dbSNP gnomAD v3 gnomAD v4
8g.143728528G>CCA463519886FAM83Hc.933C>G (p.Val311=)
c.1536C>G (p.Val512=)
c.113C>G
c.990C>G (p.Val330=)
c.951C>G (p.Val317=)
c.1254C>G (p.Val418=)
c.1101C>G (p.Val367=)
8g.143728528G=CA1825940826FAM83Hc.933C= (p.Val311=)
c.1536C= (p.Val512=)
c.113C=
c.990C= (p.Val330=)
c.951C= (p.Val317=)
c.1254C= (p.Val418=)
c.1101C= (p.Val367=)
8g.143728528G>TCA463519885FAM83Hc.933C>A (p.Val311=)
c.1536C>A (p.Val512=)
c.113C>A
c.990C>A (p.Val330=)
c.951C>A (p.Val317=)
c.1254C>A (p.Val418=)
c.1101C>A (p.Val367=)

Number of alleles fetched