Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
8	g.143728507G>A	CA463519828	FAM83H	c.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
8	g.143728507G>C	CA463519829	FAM83H	c.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
8	g.143728507G=	CA1825940809	FAM83H	c.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=)
8	g.143728507G>T	CA4917545	FAM83H	c.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
8	g.143728508G>A	CA372469003	FAM83H	c.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
8	g.143728508G>C	CA372469005	FAM83H	c.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)
8	g.143728508G>T	CA372469004	FAM83H	c.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
8	g.143728509T>A	CA4917546	FAM83H	c.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
8	g.143728509T>C	CA372469006	FAM83H	c.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)
8	g.143728509T>G	CA372469007	FAM83H	c.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)
8	g.143728509T=	CA1825940810	FAM83H	c.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=)
8	g.143728510T>A	CA463519834	FAM83H	c.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=)
8	g.143728510T>C	CA4917547	FAM83H	c.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
8	g.143728510T>G	CA463519837	FAM83H	c.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=)
8	g.143728510T=	CA1825940811	FAM83H	c.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=)
8	g.143728510_143728513del	CA2688981240	FAM83H	c.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
8	g.143728511G>A	CA372469008	FAM83H	c.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
8	g.143728511G>C	CA372469009	FAM83H	c.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)
8	g.143728511G=	CA1825940812	FAM83H	c.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=)
8	g.143728511G>T	CA372469010	FAM83H	c.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
8	g.143728512G>A	CA372469011	FAM83H	c.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)
8	g.143728512G>C	CA4917548	FAM83H	c.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
8	g.143728512G=	CA1825940813	FAM83H	c.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=)
8	g.143728512G>T	CA372469012	FAM83H	c.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)
8	g.143728513C>A	CA463519840	FAM83H	c.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
8	g.143728513C=	CA1825940814	FAM83H	c.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=)
8	g.143728513C>G	CA463519843	FAM83H	c.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
8	g.143728513C>T	CA187605572	FAM83H	c.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
8	g.143728514G>A	CA372469015	FAM83H	c.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
8	g.143728514G>C	CA372469014	FAM83H	c.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)
8	g.143728514G=	CA1825940815	FAM83H	c.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=)
8	g.143728514G>T	CA372469013	FAM83H	c.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
8	g.143728515C>A	CA4917549	FAM83H	c.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
8	g.143728515C=	CA1825940816	FAM83H	c.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=)
8	g.143728515C>G	CA372469016	FAM83H	c.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
8	g.143728515C>T	CA372469017	FAM83H	c.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
8	g.143728516C>A	CA463519851	FAM83H	c.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
8	g.143728516C=	CA1825940817	FAM83H	c.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=)
8	g.143728516C>G	CA463519852	FAM83H	c.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=)
8	g.143728516C>T	CA4917550	FAM83H	c.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
8	g.143728517C>A	CA372469018	FAM83H	c.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
8	g.143728517C>G	CA372469019	FAM83H	c.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
8	g.143728517C>T	CA372469020	FAM83H	c.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
8	g.143728518C>A	CA372469021	FAM83H	c.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
8	g.143728518C=	CA1825940818	FAM83H	c.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=)
8	g.143728518C>G	CA372469022	FAM83H	c.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
8	g.143728518C>T	CA372469023	FAM83H	c.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
8	g.143728519G>A	CA463519860	FAM83H	c.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
8	g.143728519G>C	CA463519861	FAM83H	c.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=)
8	g.143728519G=	CA1825940819	FAM83H	c.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=)
8	g.143728519G>T	CA463519862	FAM83H	c.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
8	g.143728520A>C	CA372469024	FAM83H	c.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)
8	g.143728520A>G	CA372469025	FAM83H	c.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)
8	g.143728520A>T	CA372469026	FAM83H	c.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)
8	g.143728521C>A	CA372469029	FAM83H	c.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)
8	g.143728521C>G	CA372469027	FAM83H	c.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)
8	g.143728521C>T	CA372469028	FAM83H	c.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
8	g.143728524del	CA2688981256	FAM83H	c.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
8	g.143728522C>A	CA463519867	FAM83H	c.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=)
8	g.143728522C=	CA1825940820	FAM83H	c.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=)
8	g.143728522C>G	CA463519873	FAM83H	c.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
8	g.143728522C>T	CA463519872	FAM83H	c.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
8	g.143728526_143728535dup	CA2580078633	FAM83H	c.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
8	g.143728523C>A	CA372469030	FAM83H	c.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)
8	g.143728523C=	CA1825940821	FAM83H	c.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=)
8	g.143728523C>G	CA372469031	FAM83H	c.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)
8	g.143728523C>T	CA187605581	FAM83H	c.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
8	g.143728523_143728526delinsCCAG	CA1825940822	FAM83H	c.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=)
8	g.143728524C>A	CA372469033	FAM83H	c.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)
8	g.143728524C>G	CA372469034	FAM83H	c.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)
8	g.143728524C>T	CA372469036	FAM83H	c.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)
8	g.143728524_143728526del	CA1825940823	FAM83H	c.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
8	g.143728525A>C	CA463519880	FAM83H	c.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
8	g.143728525A>G	CA463519881	FAM83H	c.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
8	g.143728525A>T	CA463519882	FAM83H	c.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=)
8	g.143728526G>A	CA372469038	FAM83H	c.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
8	g.143728526G>C	CA372469039	FAM83H	c.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
8	g.143728526G=	CA1825940824	FAM83H	c.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=)
8	g.143728526G>T	CA372469041	FAM83H	c.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
8	g.143728527G>A	CA372469043	FAM83H	c.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
8	g.143728527G>C	CA372469045	FAM83H	c.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)
8	g.143728527G=	CA1825940825	FAM83H	c.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=)
8	g.143728527G>T	CA372469046	FAM83H	c.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
8	g.143728528G>A	CA463519887	FAM83H	c.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
8	g.143728528G>C	CA463519886	FAM83H	c.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=)
8	g.143728528G=	CA1825940826	FAM83H	c.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=)
8	g.143728528G>T	CA463519885	FAM83H	c.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=)
8	g.143728529A>C	CA372469053	FAM83H	c.932T>G (p.Val311Gly) c.1535T>G (p.Val512Gly) c.112T>G c.989T>G (p.Val330Gly) c.950T>G (p.Val317Gly) c.1253T>G (p.Val418Gly) c.1100T>G (p.Val367Gly)
8	g.143728529A>G	CA372469051	FAM83H	c.932T>C (p.Val311Ala) c.1535T>C (p.Val512Ala) c.112T>C c.989T>C (p.Val330Ala) c.950T>C (p.Val317Ala) c.1253T>C (p.Val418Ala) c.1100T>C (p.Val367Ala)	gnomAD v4
8	g.143728529A>T	CA372469049	FAM83H	c.932T>A (p.Val311Asp) c.1535T>A (p.Val512Asp) c.112T>A c.989T>A (p.Val330Asp) c.950T>A (p.Val317Asp) c.1253T>A (p.Val418Asp) c.1100T>A (p.Val367Asp)
8	g.143728530C>A	CA372469056	FAM83H	c.931G>T (p.Val311Phe) c.1534G>T (p.Val512Phe) c.111G>T c.988G>T (p.Val330Phe) c.949G>T (p.Val317Phe) c.1252G>T (p.Val418Phe) c.1099G>T (p.Val367Phe)	gnomAD v4
8	g.143728530C>G	CA372469055	FAM83H	c.931G>C (p.Val311Leu) c.1534G>C (p.Val512Leu) c.111G>C c.988G>C (p.Val330Leu) c.949G>C (p.Val317Leu) c.1252G>C (p.Val418Leu) c.1099G>C (p.Val367Leu)
8	g.143728530C>T	CA372469058	FAM83H	c.931G>A (p.Val311Ile) c.1534G>A (p.Val512Ile) c.111G>A c.988G>A (p.Val330Ile) c.949G>A (p.Val317Ile) c.1252G>A (p.Val418Ile) c.1099G>A (p.Val367Ile)	gnomAD v4
8	g.143728531G>A	CA4917551	FAM83H	c.930C>T (p.Gly310=) c.1533C>T (p.Gly511=) c.110C>T c.987C>T (p.Gly329=) c.948C>T (p.Gly316=) c.1251C>T (p.Gly417=) c.1098C>T (p.Gly366=)	dbSNP ExAC gnomAD v2 gnomAD v4
8	g.143728531G>C	CA463519892	FAM83H	c.930C>G (p.Gly310=) c.1533C>G (p.Gly511=) c.110C>G c.987C>G (p.Gly329=) c.948C>G (p.Gly316=) c.1251C>G (p.Gly417=) c.1098C>G (p.Gly366=)
8	g.143728531G=	CA1825940827	FAM83H	c.930C= (p.Gly310=) c.1533C= (p.Gly511=) c.110C= c.987C= (p.Gly329=) c.948C= (p.Gly316=) c.1251C= (p.Gly417=) c.1098C= (p.Gly366=)
8	g.143728531G>T	CA463519894	FAM83H	c.930C>A (p.Gly310=) c.1533C>A (p.Gly511=) c.110C>A c.987C>A (p.Gly329=) c.948C>A (p.Gly316=) c.1251C>A (p.Gly417=) c.1098C>A (p.Gly366=)	gnomAD v4
8	g.143728531dup	CA2695210311	FAM83H	c.930dup (p.Val311ArgfsTer14) c.1533dup (p.Val512ArgfsTer14) c.110dup c.987dup (p.Val330ArgfsTer14) c.948dup (p.Val317ArgfsTer14) c.1251dup (p.Val418ArgfsTer14) c.1098dup (p.Val367ArgfsTer14)
8	g.143728532C>A	CA372469067	FAM83H	c.929G>T (p.Gly310Val) c.1532G>T (p.Gly511Val) c.109G>T c.986G>T (p.Gly329Val) c.947G>T (p.Gly316Val) c.1250G>T (p.Gly417Val) c.1097G>T (p.Gly366Val)
8	g.143728532C>G	CA372469062	FAM83H	c.929G>C (p.Gly310Ala) c.1532G>C (p.Gly511Ala) c.109G>C c.986G>C (p.Gly329Ala) c.947G>C (p.Gly316Ala) c.1250G>C (p.Gly417Ala) c.1097G>C (p.Gly366Ala)	gnomAD v4
8	g.143728532C>T	CA372469065	FAM83H	c.929G>A (p.Gly310Asp) c.1532G>A (p.Gly511Asp) c.109G>A c.986G>A (p.Gly329Asp) c.947G>A (p.Gly316Asp) c.1250G>A (p.Gly417Asp) c.1097G>A (p.Gly366Asp)
8	g.143728533C>A	CA372469069	FAM83H	c.928G>T (p.Gly310Cys) c.1531G>T (p.Gly511Cys) c.108G>T c.985G>T (p.Gly329Cys) c.946G>T (p.Gly316Cys) c.1249G>T (p.Gly417Cys) c.1096G>T (p.Gly366Cys)
8	g.143728533C=	CA1825940829	FAM83H	c.928G= (p.Gly310=) c.1531G= (p.Gly511=) c.108G= c.985G= (p.Gly329=) c.946G= (p.Gly316=) c.1249G= (p.Gly417=) c.1096G= (p.Gly366=)
8	g.143728533C>G	CA372469071	FAM83H	c.928G>C (p.Gly310Arg) c.1531G>C (p.Gly511Arg) c.108G>C c.985G>C (p.Gly329Arg) c.946G>C (p.Gly316Arg) c.1249G>C (p.Gly417Arg) c.1096G>C (p.Gly366Arg)
8	g.143728533C>T	CA372469073	FAM83H	c.928G>A (p.Gly310Ser) c.1531G>A (p.Gly511Ser) c.108G>A c.985G>A (p.Gly329Ser) c.946G>A (p.Gly316Ser) c.1249G>A (p.Gly417Ser) c.1096G>A (p.Gly366Ser)	dbSNP gnomAD v2 gnomAD v4
8	g.143728533_143728535delinsCCA	CA1825940828	FAM83H	c.926_928delinsTGG (p.Val309=) c.1529_1531delinsTGG (p.Val510=) c.106_108delinsTGG c.983_985delinsTGG (p.Val328=) c.944_946delinsTGG (p.Val315=) c.1247_1249delinsTGG (p.Val416=) c.1094_1096delinsTGG (p.Val365=)
8	g.143728534_143728536del	CA2688981270	FAM83H	c.926_928del (p.Val309del) c.1529_1531del (p.Val510del) c.106_108del c.983_985del (p.Val328del) c.944_946del (p.Val315del) c.1247_1249del (p.Val416del) c.1094_1096del (p.Val365del)	gnomAD v4
8	g.143728534C>A	CA463519903	FAM83H	c.927G>T (p.Val309=) c.1530G>T (p.Val510=) c.107G>T c.984G>T (p.Val328=) c.945G>T (p.Val315=) c.1248G>T (p.Val416=) c.1095G>T (p.Val365=)
8	g.143728534C=	CA1825940830	FAM83H	c.927G= (p.Val309=) c.1530G= (p.Val510=) c.107G= c.984G= (p.Val328=) c.945G= (p.Val315=) c.1248G= (p.Val416=) c.1095G= (p.Val365=)
8	g.143728534C>G	CA187605594	FAM83H	c.927G>C (p.Val309=) c.1530G>C (p.Val510=) c.107G>C c.984G>C (p.Val328=) c.945G>C (p.Val315=) c.1248G>C (p.Val416=) c.1095G>C (p.Val365=)	dbSNP gnomAD v4
8	g.143728534C>T	CA463519902	FAM83H	c.927G>A (p.Val309=) c.1530G>A (p.Val510=) c.107G>A c.984G>A (p.Val328=) c.945G>A (p.Val315=) c.1248G>A (p.Val416=) c.1095G>A (p.Val365=)	gnomAD v4
8	g.143728535_143728536del	CA658683539	FAM83H	c.926_927del (p.Val309GlyfsTer15) c.1529_1530del (p.Val510GlyfsTer15) c.106_107del c.983_984del (p.Val328GlyfsTer15) c.944_945del (p.Val315GlyfsTer15) c.1247_1248del (p.Val416GlyfsTer15) c.1094_1095del (p.Val365GlyfsTer15)	ClinVar dbSNP
8	g.143728535A>C	CA372469077	FAM83H	c.926T>G (p.Val309Gly) c.1529T>G (p.Val510Gly) c.106T>G c.983T>G (p.Val328Gly) c.944T>G (p.Val315Gly) c.1247T>G (p.Val416Gly) c.1094T>G (p.Val365Gly)
8	g.143728535A>G	CA372469078	FAM83H	c.926T>C (p.Val309Ala) c.1529T>C (p.Val510Ala) c.106T>C c.983T>C (p.Val328Ala) c.944T>C (p.Val315Ala) c.1247T>C (p.Val416Ala) c.1094T>C (p.Val365Ala)
8	g.143728535A>T	CA372469079	FAM83H	c.926T>A (p.Val309Glu) c.1529T>A (p.Val510Glu) c.106T>A c.983T>A (p.Val328Glu) c.944T>A (p.Val315Glu) c.1247T>A (p.Val416Glu) c.1094T>A (p.Val365Glu)
8	g.143728536C>A	CA372469080	FAM83H	c.925G>T (p.Val309Leu) c.1528G>T (p.Val510Leu) c.105G>T c.982G>T (p.Val328Leu) c.943G>T (p.Val315Leu) c.1246G>T (p.Val416Leu) c.1093G>T (p.Val365Leu)
8	g.143728536C=	CA1825940832	FAM83H	c.925G= (p.Val309=) c.1528G= (p.Val510=) c.105G= c.982G= (p.Val328=) c.943G= (p.Val315=) c.1246G= (p.Val416=) c.1093G= (p.Val365=)
8	g.143728536C>G	CA372469081	FAM83H	c.925G>C (p.Val309Leu) c.1528G>C (p.Val510Leu) c.105G>C c.982G>C (p.Val328Leu) c.943G>C (p.Val315Leu) c.1246G>C (p.Val416Leu) c.1093G>C (p.Val365Leu)
8	g.143728536C>T	CA372469082	FAM83H	c.925G>A (p.Val309Met) c.1528G>A (p.Val510Met) c.105G>A c.982G>A (p.Val328Met) c.943G>A (p.Val315Met) c.1246G>A (p.Val416Met) c.1093G>A (p.Val365Met)	dbSNP gnomAD v2 gnomAD v4
8	g.143728536_143728538delinsCGA	CA1825940831	FAM83H	c.923_925delinsTCG (p.Leu308=) c.1526_1528delinsTCG (p.Leu509=) c.103_105delinsTCG c.980_982delinsTCG (p.Leu327=) c.941_943delinsTCG (p.Leu314=) c.1244_1246delinsTCG (p.Leu415=) c.1091_1093delinsTCG (p.Leu364=)
8	g.143728537G>A	CA4917552	FAM83H	c.924C>T (p.Leu308=) c.1527C>T (p.Leu509=) c.104C>T c.981C>T (p.Leu327=) c.942C>T (p.Leu314=) c.1245C>T (p.Leu415=) c.1092C>T (p.Leu364=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8	g.143728537G>C	CA463519921	FAM83H	c.924C>G (p.Leu308=) c.1527C>G (p.Leu509=) c.104C>G c.981C>G (p.Leu327=) c.942C>G (p.Leu314=) c.1245C>G (p.Leu415=) c.1092C>G (p.Leu364=)
8	g.143728537G=	CA1825940833	FAM83H	c.924C= (p.Leu308=) c.1527C= (p.Leu509=) c.104C= c.981C= (p.Leu327=) c.942C= (p.Leu314=) c.1245C= (p.Leu415=) c.1092C= (p.Leu364=)
8	g.143728537G>T	CA463519917	FAM83H	c.924C>A (p.Leu308=) c.1527C>A (p.Leu509=) c.104C>A c.981C>A (p.Leu327=) c.942C>A (p.Leu314=) c.1245C>A (p.Leu415=) c.1092C>A (p.Leu364=)	gnomAD v4
8	g.143728540_143728541del	CA114510	FAM83H	c.923_924del (p.Leu308ArgfsTer16) c.1526_1527del (p.Leu509ArgfsTer16) c.103_104del c.980_981del (p.Leu327ArgfsTer16) c.941_942del (p.Leu314ArgfsTer16) c.1244_1245del (p.Leu415ArgfsTer16) c.1091_1092del (p.Leu364ArgfsTer16)	ClinVar dbSNP
8	g.143728538A>C	CA372469083	FAM83H	c.923T>G (p.Leu308Arg) c.1526T>G (p.Leu509Arg) c.103T>G c.980T>G (p.Leu327Arg) c.941T>G (p.Leu314Arg) c.1244T>G (p.Leu415Arg) c.1091T>G (p.Leu364Arg)
8	g.143728538A>G	CA372469084	FAM83H	c.923T>C (p.Leu308Pro) c.1526T>C (p.Leu509Pro) c.103T>C c.980T>C (p.Leu327Pro) c.941T>C (p.Leu314Pro) c.1244T>C (p.Leu415Pro) c.1091T>C (p.Leu364Pro)
8	g.143728538A>T	CA372469085	FAM83H	c.923T>A (p.Leu308His) c.1526T>A (p.Leu509His) c.103T>A c.980T>A (p.Leu327His) c.941T>A (p.Leu314His) c.1244T>A (p.Leu415His) c.1091T>A (p.Leu364His)
8	g.143728538dup	CA2695210312	FAM83H	c.923dup (p.Val309ArgfsTer16) c.1526dup (p.Val510ArgfsTer16) c.103dup c.980dup (p.Val328ArgfsTer16) c.941dup (p.Val315ArgfsTer16) c.1244dup (p.Val416ArgfsTer16) c.1091dup (p.Val365ArgfsTer16)
8	g.143728539G>A	CA372469087	FAM83H	c.922C>T (p.Leu308Phe) c.1525C>T (p.Leu509Phe) c.102C>T c.979C>T (p.Leu327Phe) c.940C>T (p.Leu314Phe) c.1243C>T (p.Leu415Phe) c.1090C>T (p.Leu364Phe)	dbSNP gnomAD v2 gnomAD v4
8	g.143728539G>C	CA4917553	FAM83H	c.922C>G (p.Leu308Val) c.1525C>G (p.Leu509Val) c.102C>G c.979C>G (p.Leu327Val) c.940C>G (p.Leu314Val) c.1243C>G (p.Leu415Val) c.1090C>G (p.Leu364Val)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8	g.143728539G=	CA1825940834	FAM83H	c.922C= (p.Leu308=) c.1525C= (p.Leu509=) c.102C= c.979C= (p.Leu327=) c.940C= (p.Leu314=) c.1243C= (p.Leu415=) c.1090C= (p.Leu364=)
8	g.143728539G>T	CA372469089	FAM83H	c.922C>A (p.Leu308Ile) c.1525C>A (p.Leu509Ile) c.102C>A c.979C>A (p.Leu327Ile) c.940C>A (p.Leu314Ile) c.1243C>A (p.Leu415Ile) c.1090C>A (p.Leu364Ile)
8	g.143728540A=	CA1825940835	FAM83H	c.921T= (p.Pro307=) c.1524T= (p.Pro508=) c.101T= c.978T= (p.Pro326=) c.939T= (p.Pro313=) c.1242T= (p.Pro414=) c.1089T= (p.Pro363=)
8	g.143728540A>C	CA463519929	FAM83H	c.921T>G (p.Pro307=) c.1524T>G (p.Pro508=) c.101T>G c.978T>G (p.Pro326=) c.939T>G (p.Pro313=) c.1242T>G (p.Pro414=) c.1089T>G (p.Pro363=)	dbSNP gnomAD v4
8	g.143728540A>G	CA463519930	FAM83H	c.921T>C (p.Pro307=) c.1524T>C (p.Pro508=) c.101T>C c.978T>C (p.Pro326=) c.939T>C (p.Pro313=) c.1242T>C (p.Pro414=) c.1089T>C (p.Pro363=)
8	g.143728540A>T	CA463519928	FAM83H	c.921T>A (p.Pro307=) c.1524T>A (p.Pro508=) c.101T>A c.978T>A (p.Pro326=) c.939T>A (p.Pro313=) c.1242T>A (p.Pro414=) c.1089T>A (p.Pro363=)
8	g.143728540_143728545dup	CA2688981279	FAM83H	c.916_921dup (p.Pro307_Leu308insGlyPro) c.1519_1524dup (p.Pro508_Leu509insGlyPro) c.96_101dup c.973_978dup (p.Pro326_Leu327insGlyPro) c.934_939dup (p.Pro313_Leu314insGlyPro) c.1237_1242dup (p.Pro414_Leu415insGlyPro) c.1084_1089dup (p.Pro363_Leu364insGlyPro)	gnomAD v4
8	g.143728541G>A	CA372469092	FAM83H	c.920C>T (p.Pro307Leu) c.1523C>T (p.Pro508Leu) c.100C>T c.977C>T (p.Pro326Leu) c.938C>T (p.Pro313Leu) c.1241C>T (p.Pro414Leu) c.1088C>T (p.Pro363Leu)
8	g.143728541G>C	CA372469094	FAM83H	c.920C>G (p.Pro307Arg) c.1523C>G (p.Pro508Arg) c.100C>G c.977C>G (p.Pro326Arg) c.938C>G (p.Pro313Arg) c.1241C>G (p.Pro414Arg) c.1088C>G (p.Pro363Arg)
8	g.143728541G>T	CA372469096	FAM83H	c.920C>A (p.Pro307His) c.1523C>A (p.Pro508His) c.100C>A c.977C>A (p.Pro326His) c.938C>A (p.Pro313His) c.1241C>A (p.Pro414His) c.1088C>A (p.Pro363His)
8	g.143728542G>A	CA372469097	FAM83H	c.919C>T (p.Pro307Ser) c.1522C>T (p.Pro508Ser) c.99C>T c.976C>T (p.Pro326Ser) c.937C>T (p.Pro313Ser) c.1240C>T (p.Pro414Ser) c.1087C>T (p.Pro363Ser)	gnomAD v4
8	g.143728542G>C	CA372469098	FAM83H	c.919C>G (p.Pro307Ala) c.1522C>G (p.Pro508Ala) c.99C>G c.976C>G (p.Pro326Ala) c.937C>G (p.Pro313Ala) c.1240C>G (p.Pro414Ala) c.1087C>G (p.Pro363Ala)
8	g.143728542G=	CA1825940836	FAM83H	c.919C= (p.Pro307=) c.1522C= (p.Pro508=) c.99C= c.976C= (p.Pro326=) c.937C= (p.Pro313=) c.1240C= (p.Pro414=) c.1087C= (p.Pro363=)
8	g.143728542G>T	CA372469099	FAM83H	c.919C>A (p.Pro307Thr) c.1522C>A (p.Pro508Thr) c.99C>A c.976C>A (p.Pro326Thr) c.937C>A (p.Pro313Thr) c.1240C>A (p.Pro414Thr) c.1087C>A (p.Pro363Thr)	gnomAD v4
8	g.143728543C>A	CA463519943	FAM83H	c.918G>T (p.Gly306=) c.1521G>T (p.Gly507=) c.98G>T c.975G>T (p.Gly325=) c.936G>T (p.Gly312=) c.1239G>T (p.Gly413=) c.1086G>T (p.Gly362=)
8	g.143728543C>G	CA463519942	FAM83H	c.918G>C (p.Gly306=) c.1521G>C (p.Gly507=) c.98G>C c.975G>C (p.Gly325=) c.936G>C (p.Gly312=) c.1239G>C (p.Gly413=) c.1086G>C (p.Gly362=)
8	g.143728543C>T	CA463519941	FAM83H	c.918G>A (p.Gly306=) c.1521G>A (p.Gly507=) c.98G>A c.975G>A (p.Gly325=) c.936G>A (p.Gly312=) c.1239G>A (p.Gly413=) c.1086G>A (p.Gly362=)
8	g.143728549_143728554dup	CA585729885	FAM83H	c.913_918dup (p.Gly306_Pro307insAlaGly) c.1516_1521dup (p.Gly507_Pro508insAlaGly) c.93_98dup c.970_975dup (p.Gly325_Pro326insAlaGly) c.931_936dup (p.Gly312_Pro313insAlaGly) c.1234_1239dup (p.Gly413_Pro414insAlaGly) c.1081_1086dup (p.Gly362_Pro363insAlaGly)	dbSNP gnomAD v2 gnomAD v4
8	g.143728544C>A	CA372469103	FAM83H	c.917G>T (p.Gly306Val) c.1520G>T (p.Gly507Val) c.97G>T c.974G>T (p.Gly325Val) c.935G>T (p.Gly312Val) c.1238G>T (p.Gly413Val) c.1085G>T (p.Gly362Val)	dbSNP gnomAD v4
8	g.143728544C=	CA1825940837	FAM83H	c.917G= (p.Gly306=) c.1520G= (p.Gly507=) c.97G= c.974G= (p.Gly325=) c.935G= (p.Gly312=) c.1238G= (p.Gly413=) c.1085G= (p.Gly362=)
8	g.143728544C>G	CA372469104	FAM83H	c.917G>C (p.Gly306Ala) c.1520G>C (p.Gly507Ala) c.97G>C c.974G>C (p.Gly325Ala) c.935G>C (p.Gly312Ala) c.1238G>C (p.Gly413Ala) c.1085G>C (p.Gly362Ala)
8	g.143728544C>T	CA372469102	FAM83H	c.917G>A (p.Gly306Glu) c.1520G>A (p.Gly507Glu) c.97G>A c.974G>A (p.Gly325Glu) c.935G>A (p.Gly312Glu) c.1238G>A (p.Gly413Glu) c.1085G>A (p.Gly362Glu)	gnomAD v4
8	g.143728545C>A	CA372469107	FAM83H	c.916G>T (p.Gly306Trp) c.1519G>T (p.Gly507Trp) c.96G>T c.973G>T (p.Gly325Trp) c.934G>T (p.Gly312Trp) c.1237G>T (p.Gly413Trp) c.1084G>T (p.Gly362Trp)
8	g.143728545C=	CA1825940838	FAM83H	c.916G= (p.Gly306=) c.1519G= (p.Gly507=) c.96G= c.973G= (p.Gly325=) c.934G= (p.Gly312=) c.1237G= (p.Gly413=) c.1084G= (p.Gly362=)
8	g.143728545C>G	CA372469109	FAM83H	c.916G>C (p.Gly306Arg) c.1519G>C (p.Gly507Arg) c.96G>C c.973G>C (p.Gly325Arg) c.934G>C (p.Gly312Arg) c.1237G>C (p.Gly413Arg) c.1084G>C (p.Gly362Arg)
8	g.143728545C>T	CA372469110	FAM83H	c.916G>A (p.Gly306Arg) c.1519G>A (p.Gly507Arg) c.96G>A c.973G>A (p.Gly325Arg) c.934G>A (p.Gly312Arg) c.1237G>A (p.Gly413Arg) c.1084G>A (p.Gly362Arg)	dbSNP gnomAD v4
8	g.143728546G>A	CA4917554	FAM83H	c.915C>T (p.Ala305=) c.1518C>T (p.Ala506=) c.95C>T c.972C>T (p.Ala324=) c.933C>T (p.Ala311=) c.1236C>T (p.Ala412=) c.1083C>T (p.Ala361=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8	g.143728546G>C	CA463519950	FAM83H	c.915C>G (p.Ala305=) c.1518C>G (p.Ala506=) c.95C>G c.972C>G (p.Ala324=) c.933C>G (p.Ala311=) c.1236C>G (p.Ala412=) c.1083C>G (p.Ala361=)
8	g.143728546G=	CA1825940839	FAM83H	c.915C= (p.Ala305=) c.1518C= (p.Ala506=) c.95C= c.972C= (p.Ala324=) c.933C= (p.Ala311=) c.1236C= (p.Ala412=) c.1083C= (p.Ala361=)
8	g.143728546G>T	CA463519952	FAM83H	c.915C>A (p.Ala305=) c.1518C>A (p.Ala506=) c.95C>A c.972C>A (p.Ala324=) c.933C>A (p.Ala311=) c.1236C>A (p.Ala412=) c.1083C>A (p.Ala361=)
8	g.143728547G>A	CA4917555	FAM83H	c.914C>T (p.Ala305Val) c.1517C>T (p.Ala506Val) c.94C>T c.971C>T (p.Ala324Val) c.932C>T (p.Ala311Val) c.1235C>T (p.Ala412Val) c.1082C>T (p.Ala361Val)	dbSNP ExAC gnomAD v2 gnomAD v4
8	g.143728547G>C	CA372469113	FAM83H	c.914C>G (p.Ala305Gly) c.1517C>G (p.Ala506Gly) c.94C>G c.971C>G (p.Ala324Gly) c.932C>G (p.Ala311Gly) c.1235C>G (p.Ala412Gly) c.1082C>G (p.Ala361Gly)
8	g.143728547G=	CA1825940840	FAM83H	c.914C= (p.Ala305=) c.1517C= (p.Ala506=) c.94C= c.971C= (p.Ala324=) c.932C= (p.Ala311=) c.1235C= (p.Ala412=) c.1082C= (p.Ala361=)
8	g.143728547G>T	CA372469114	FAM83H	c.914C>A (p.Ala305Asp) c.1517C>A (p.Ala506Asp) c.94C>A c.971C>A (p.Ala324Asp) c.932C>A (p.Ala311Asp) c.1235C>A (p.Ala412Asp) c.1082C>A (p.Ala361Asp)
8	g.143728548C>A	CA372469116	FAM83H	c.913G>T (p.Ala305Ser) c.1516G>T (p.Ala506Ser) c.93G>T c.970G>T (p.Ala324Ser) c.931G>T (p.Ala311Ser) c.1234G>T (p.Ala412Ser) c.1081G>T (p.Ala361Ser)	gnomAD v4
8	g.143728548C=	CA1825940841	FAM83H	c.913G= (p.Ala305=) c.1516G= (p.Ala506=) c.93G= c.970G= (p.Ala324=) c.931G= (p.Ala311=) c.1234G= (p.Ala412=) c.1081G= (p.Ala361=)
8	g.143728548C>G	CA372469120	FAM83H	c.913G>C (p.Ala305Pro) c.1516G>C (p.Ala506Pro) c.93G>C c.970G>C (p.Ala324Pro) c.931G>C (p.Ala311Pro) c.1234G>C (p.Ala412Pro) c.1081G>C (p.Ala361Pro)
8	g.143728548C>T	CA187605611	FAM83H	c.913G>A (p.Ala305Thr) c.1516G>A (p.Ala506Thr) c.93G>A c.970G>A (p.Ala324Thr) c.931G>A (p.Ala311Thr) c.1234G>A (p.Ala412Thr) c.1081G>A (p.Ala361Thr)	dbSNP gnomAD v4
8	g.143728551del	CA2573052982	FAM83H	c.913del (p.Ala305ProfsTer?) c.1516del (p.Ala506ProfsTer?) c.93del c.970del (p.Ala324ProfsTer?) c.931del (p.Ala311ProfsTer?) c.1234del (p.Ala412ProfsTer?) c.1081del (p.Ala361ProfsTer?)	dbSNP gnomAD v4
8	g.143728549C>A	CA463519961	FAM83H	c.912G>T (p.Gly304=) c.1515G>T (p.Gly505=) c.92G>T c.969G>T (p.Gly323=) c.930G>T (p.Gly310=) c.1233G>T (p.Gly411=) c.1080G>T (p.Gly360=)
8	g.143728549C>G	CA463519962	FAM83H	c.912G>C (p.Gly304=) c.1515G>C (p.Gly505=) c.92G>C c.969G>C (p.Gly323=) c.930G>C (p.Gly310=) c.1233G>C (p.Gly411=) c.1080G>C (p.Gly360=)
8	g.143728549C>T	CA463519963	FAM83H	c.912G>A (p.Gly304=) c.1515G>A (p.Gly505=) c.92G>A c.969G>A (p.Gly323=) c.930G>A (p.Gly310=) c.1233G>A (p.Gly411=) c.1080G>A (p.Gly360=)
8	g.143728550C>A	CA372469123	FAM83H	c.911G>T (p.Gly304Val) c.1514G>T (p.Gly505Val) c.91G>T c.968G>T (p.Gly323Val) c.929G>T (p.Gly310Val) c.1232G>T (p.Gly411Val) c.1079G>T (p.Gly360Val)	gnomAD v4
8	g.143728550C=	CA1825940842	FAM83H	c.911G= (p.Gly304=) c.1514G= (p.Gly505=) c.91G= c.968G= (p.Gly323=) c.929G= (p.Gly310=) c.1232G= (p.Gly411=) c.1079G= (p.Gly360=)
8	g.143728550C>G	CA372469125	FAM83H	c.911G>C (p.Gly304Ala) c.1514G>C (p.Gly505Ala) c.91G>C c.968G>C (p.Gly323Ala) c.929G>C (p.Gly310Ala) c.1232G>C (p.Gly411Ala) c.1079G>C (p.Gly360Ala)
8	g.143728550C>T	CA372469127	FAM83H	c.911G>A (p.Gly304Glu) c.1514G>A (p.Gly505Glu) c.91G>A c.968G>A (p.Gly323Glu) c.929G>A (p.Gly310Glu) c.1232G>A (p.Gly411Glu) c.1079G>A (p.Gly360Glu)	dbSNP gnomAD v2
8	g.143728551C>A	CA372469134	FAM83H	c.910G>T (p.Gly304Trp) c.1513G>T (p.Gly505Trp) c.90G>T c.967G>T (p.Gly323Trp) c.928G>T (p.Gly310Trp) c.1231G>T (p.Gly411Trp) c.1078G>T (p.Gly360Trp)	dbSNP gnomAD v4
8	g.143728551C=	CA1825940843	FAM83H	c.910G= (p.Gly304=) c.1513G= (p.Gly505=) c.90G= c.967G= (p.Gly323=) c.928G= (p.Gly310=) c.1231G= (p.Gly411=) c.1078G= (p.Gly360=)
8	g.143728551C>G	CA372469133	FAM83H	c.910G>C (p.Gly304Arg) c.1513G>C (p.Gly505Arg) c.90G>C c.967G>C (p.Gly323Arg) c.928G>C (p.Gly310Arg) c.1231G>C (p.Gly411Arg) c.1078G>C (p.Gly360Arg)	dbSNP gnomAD v4
8	g.143728551C>T	CA372469129	FAM83H	c.910G>A (p.Gly304Arg) c.1513G>A (p.Gly505Arg) c.90G>A c.967G>A (p.Gly323Arg) c.928G>A (p.Gly310Arg) c.1231G>A (p.Gly411Arg) c.1078G>A (p.Gly360Arg)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8	g.143728552G>A	CA4917556	FAM83H	c.909C>T (p.Ala303=) c.1512C>T (p.Ala504=) c.89C>T c.966C>T (p.Ala322=) c.927C>T (p.Ala309=) c.1230C>T (p.Ala410=) c.1077C>T (p.Ala359=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8	g.143728552G>C	CA463519970	FAM83H	c.909C>G (p.Ala303=) c.1512C>G (p.Ala504=) c.89C>G c.966C>G (p.Ala322=) c.927C>G (p.Ala309=) c.1230C>G (p.Ala410=) c.1077C>G (p.Ala359=)
8	g.143728552G=	CA1825940844	FAM83H	c.909C= (p.Ala303=) c.1512C= (p.Ala504=) c.89C= c.966C= (p.Ala322=) c.927C= (p.Ala309=) c.1230C= (p.Ala410=) c.1077C= (p.Ala359=)
8	g.143728552G>T	CA463519971	FAM83H	c.909C>A (p.Ala303=) c.1512C>A (p.Ala504=) c.89C>A c.966C>A (p.Ala322=) c.927C>A (p.Ala309=) c.1230C>A (p.Ala410=) c.1077C>A (p.Ala359=)	gnomAD v4
8	g.143728553G>A	CA372469138	FAM83H	c.908C>T (p.Ala303Val) c.1511C>T (p.Ala504Val) c.88C>T c.965C>T (p.Ala322Val) c.926C>T (p.Ala309Val) c.1229C>T (p.Ala410Val) c.1076C>T (p.Ala359Val)	gnomAD v4
8	g.143728553G>C	CA372469140	FAM83H	c.908C>G (p.Ala303Gly) c.1511C>G (p.Ala504Gly) c.88C>G c.965C>G (p.Ala322Gly) c.926C>G (p.Ala309Gly) c.1229C>G (p.Ala410Gly) c.1076C>G (p.Ala359Gly)
8	g.143728553G>T	CA372469142	FAM83H	c.908C>A (p.Ala303Asp) c.1511C>A (p.Ala504Asp) c.88C>A c.965C>A (p.Ala322Asp) c.926C>A (p.Ala309Asp) c.1229C>A (p.Ala410Asp) c.1076C>A (p.Ala359Asp)	gnomAD v4
8	g.143728554C>A	CA372469144	FAM83H	c.907G>T (p.Ala303Ser) c.1510G>T (p.Ala504Ser) c.87G>T c.964G>T (p.Ala322Ser) c.925G>T (p.Ala309Ser) c.1228G>T (p.Ala410Ser) c.1075G>T (p.Ala359Ser)
8	g.143728554C>G	CA372469148	FAM83H	c.907G>C (p.Ala303Pro) c.1510G>C (p.Ala504Pro) c.87G>C c.964G>C (p.Ala322Pro) c.925G>C (p.Ala309Pro) c.1228G>C (p.Ala410Pro) c.1075G>C (p.Ala359Pro)
8	g.143728554C>T	CA372469150	FAM83H	c.907G>A (p.Ala303Thr) c.1510G>A (p.Ala504Thr) c.87G>A c.964G>A (p.Ala322Thr) c.925G>A (p.Ala309Thr) c.1228G>A (p.Ala410Thr) c.1075G>A (p.Ala359Thr)
8	g.143728555A>C	CA372469152	FAM83H	c.906T>G (p.Tyr302Ter) c.1509T>G (p.Tyr503Ter) c.86T>G c.963T>G (p.Tyr321Ter) c.924T>G (p.Tyr308Ter) c.1227T>G (p.Tyr409Ter) c.1074T>G (p.Tyr358Ter)
8	g.143728555A>G	CA463519976	FAM83H	c.906T>C (p.Tyr302=) c.1509T>C (p.Tyr503=) c.86T>C c.963T>C (p.Tyr321=) c.924T>C (p.Tyr308=) c.1227T>C (p.Tyr409=) c.1074T>C (p.Tyr358=)	gnomAD v4
8	g.143728555A>T	CA372469153	FAM83H	c.906T>A (p.Tyr302Ter) c.1509T>A (p.Tyr503Ter) c.86T>A c.963T>A (p.Tyr321Ter) c.924T>A (p.Tyr308Ter) c.1227T>A (p.Tyr409Ter) c.1074T>A (p.Tyr358Ter)
8	g.143728556T>A	CA372469156	FAM83H	c.905A>T (p.Tyr302Phe) c.1508A>T (p.Tyr503Phe) c.85A>T c.962A>T (p.Tyr321Phe) c.923A>T (p.Tyr308Phe) c.1226A>T (p.Tyr409Phe) c.1073A>T (p.Tyr358Phe)	dbSNP
8	g.143728556T>C	CA372469158	FAM83H	c.905A>G (p.Tyr302Cys) c.1508A>G (p.Tyr503Cys) c.85A>G c.962A>G (p.Tyr321Cys) c.923A>G (p.Tyr308Cys) c.1226A>G (p.Tyr409Cys) c.1073A>G (p.Tyr358Cys)
8	g.143728556T>G	CA372469159	FAM83H	c.905A>C (p.Tyr302Ser) c.1508A>C (p.Tyr503Ser) c.85A>C c.962A>C (p.Tyr321Ser) c.923A>C (p.Tyr308Ser) c.1226A>C (p.Tyr409Ser) c.1073A>C (p.Tyr358Ser)
8	g.143728556T=	CA1825940845	FAM83H	c.905A= (p.Tyr302=) c.1508A= (p.Tyr503=) c.85A= c.962A= (p.Tyr321=) c.923A= (p.Tyr308=) c.1226A= (p.Tyr409=) c.1073A= (p.Tyr358=)
8	g.143728557A>C	CA372469165	FAM83H	c.904T>G (p.Tyr302Asp) c.1507T>G (p.Tyr503Asp) c.84T>G c.961T>G (p.Tyr321Asp) c.922T>G (p.Tyr308Asp) c.1225T>G (p.Tyr409Asp) c.1072T>G (p.Tyr358Asp)
8	g.143728557A>G	CA372469163	FAM83H	c.904T>C (p.Tyr302His) c.1507T>C (p.Tyr503His) c.84T>C c.961T>C (p.Tyr321His) c.922T>C (p.Tyr308His) c.1225T>C (p.Tyr409His) c.1072T>C (p.Tyr358His)
8	g.143728557A>T	CA372469161	FAM83H	c.904T>A (p.Tyr302Asn) c.1507T>A (p.Tyr503Asn) c.84T>A c.961T>A (p.Tyr321Asn) c.922T>A (p.Tyr308Asn) c.1225T>A (p.Tyr409Asn) c.1072T>A (p.Tyr358Asn)
8	g.143728558C>A	CA4917557	FAM83H	c.903G>T (p.Pro301=) c.1506G>T (p.Pro502=) c.83G>T c.960G>T (p.Pro320=) c.921G>T (p.Pro307=) c.1224G>T (p.Pro408=) c.1071G>T (p.Pro357=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8	g.143728558C=	CA1825940846	FAM83H	c.903G= (p.Pro301=) c.1506G= (p.Pro502=) c.83G= c.960G= (p.Pro320=) c.921G= (p.Pro307=) c.1224G= (p.Pro408=) c.1071G= (p.Pro357=)
8	g.143728558C>G	CA4917559	FAM83H	c.903G>C (p.Pro301=) c.1506G>C (p.Pro502=) c.83G>C c.960G>C (p.Pro320=) c.921G>C (p.Pro307=) c.1224G>C (p.Pro408=) c.1071G>C (p.Pro357=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8	g.143728558C>T	CA4917558	FAM83H	c.903G>A (p.Pro301=) c.1506G>A (p.Pro502=) c.83G>A c.960G>A (p.Pro320=) c.921G>A (p.Pro307=) c.1224G>A (p.Pro408=) c.1071G>A (p.Pro357=)	dbSNP ExAC gnomAD v2 gnomAD v4
8	g.143728559G>A	CA372469170	FAM83H	c.902C>T (p.Pro301Leu) c.1505C>T (p.Pro502Leu) c.82C>T c.959C>T (p.Pro320Leu) c.920C>T (p.Pro307Leu) c.1223C>T (p.Pro408Leu) c.1070C>T (p.Pro357Leu)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8	g.143728559G>C	CA4917560	FAM83H	c.902C>G (p.Pro301Arg) c.1505C>G (p.Pro502Arg) c.82C>G c.959C>G (p.Pro320Arg) c.920C>G (p.Pro307Arg) c.1223C>G (p.Pro408Arg) c.1070C>G (p.Pro357Arg)	dbSNP ExAC gnomAD v2 gnomAD v4
8	g.143728559G=	CA1825940847	FAM83H	c.902C= (p.Pro301=) c.1505C= (p.Pro502=) c.82C= c.959C= (p.Pro320=) c.920C= (p.Pro307=) c.1223C= (p.Pro408=) c.1070C= (p.Pro357=)
8	g.143728559G>T	CA372469173	FAM83H	c.902C>A (p.Pro301Gln) c.1505C>A (p.Pro502Gln) c.82C>A c.959C>A (p.Pro320Gln) c.920C>A (p.Pro307Gln) c.1223C>A (p.Pro408Gln) c.1070C>A (p.Pro357Gln)	gnomAD v4
8	g.143728560G>A	CA4917561	FAM83H	c.901C>T (p.Pro301Ser) c.1504C>T (p.Pro502Ser) c.81C>T c.958C>T (p.Pro320Ser) c.919C>T (p.Pro307Ser) c.1222C>T (p.Pro408Ser) c.1069C>T (p.Pro357Ser)	dbSNP ExAC gnomAD v2 gnomAD v4
8	g.143728560G>C	CA372469176	FAM83H	c.901C>G (p.Pro301Ala) c.1504C>G (p.Pro502Ala) c.81C>G c.958C>G (p.Pro320Ala) c.919C>G (p.Pro307Ala) c.1222C>G (p.Pro408Ala) c.1069C>G (p.Pro357Ala)
8	g.143728560G=	CA1825940848	FAM83H	c.901C= (p.Pro301=) c.1504C= (p.Pro502=) c.81C= c.958C= (p.Pro320=) c.919C= (p.Pro307=) c.1222C= (p.Pro408=) c.1069C= (p.Pro357=)
8	g.143728560G>T	CA372469179	FAM83H	c.901C>A (p.Pro301Thr) c.1504C>A (p.Pro502Thr) c.81C>A c.958C>A (p.Pro320Thr) c.919C>A (p.Pro307Thr) c.1222C>A (p.Pro408Thr) c.1069C>A (p.Pro357Thr)	gnomAD v4
8	g.143728561A>C	CA463519999	FAM83H	c.900T>G (p.Ala300=) c.1503T>G (p.Ala501=) c.80T>G c.957T>G (p.Ala319=) c.918T>G (p.Ala306=) c.1221T>G (p.Ala407=) c.1068T>G (p.Ala356=)
8	g.143728561A>G	CA463520002	FAM83H	c.900T>C (p.Ala300=) c.1503T>C (p.Ala501=) c.80T>C c.957T>C (p.Ala319=) c.918T>C (p.Ala306=) c.1221T>C (p.Ala407=) c.1068T>C (p.Ala356=)
8	g.143728561A>T	CA463520005	FAM83H	c.900T>A (p.Ala300=) c.1503T>A (p.Ala501=) c.80T>A c.957T>A (p.Ala319=) c.918T>A (p.Ala306=) c.1221T>A (p.Ala407=) c.1068T>A (p.Ala356=)
8	g.143728562G>A	CA372469183	FAM83H	c.899C>T (p.Ala300Val) c.1502C>T (p.Ala501Val) c.79C>T c.956C>T (p.Ala319Val) c.917C>T (p.Ala306Val) c.1220C>T (p.Ala407Val) c.1067C>T (p.Ala356Val)	gnomAD v4
8	g.143728562G>C	CA372469184	FAM83H	c.899C>G (p.Ala300Gly) c.1502C>G (p.Ala501Gly) c.79C>G c.956C>G (p.Ala319Gly) c.917C>G (p.Ala306Gly) c.1220C>G (p.Ala407Gly) c.1067C>G (p.Ala356Gly)
8	g.143728562G>T	CA372469185	FAM83H	c.899C>A (p.Ala300Asp) c.1502C>A (p.Ala501Asp) c.79C>A c.956C>A (p.Ala319Asp) c.917C>A (p.Ala306Asp) c.1220C>A (p.Ala407Asp) c.1067C>A (p.Ala356Asp)
8	g.143728563C>A	CA372469186	FAM83H	c.898G>T (p.Ala300Ser) c.1501G>T (p.Ala501Ser) c.78G>T c.955G>T (p.Ala319Ser) c.916G>T (p.Ala306Ser) c.1219G>T (p.Ala407Ser) c.1066G>T (p.Ala356Ser)
8	g.143728563C>G	CA372469188	FAM83H	c.898G>C (p.Ala300Pro) c.1501G>C (p.Ala501Pro) c.78G>C c.955G>C (p.Ala319Pro) c.916G>C (p.Ala306Pro) c.1219G>C (p.Ala407Pro) c.1066G>C (p.Ala356Pro)	gnomAD v4
8	g.143728563C>T	CA372469190	FAM83H	c.898G>A (p.Ala300Thr) c.1501G>A (p.Ala501Thr) c.78G>A c.955G>A (p.Ala319Thr) c.916G>A (p.Ala306Thr) c.1219G>A (p.Ala407Thr) c.1066G>A (p.Ala356Thr)
8	g.143728564C>A	CA463520007	FAM83H	c.897G>T (p.Leu299=) c.1500G>T (p.Leu500=) c.77G>T c.954G>T (p.Leu318=) c.915G>T (p.Leu305=) c.1218G>T (p.Leu406=) c.1065G>T (p.Leu355=)
8	g.143728564C>G	CA463520010	FAM83H	c.897G>C (p.Leu299=) c.1500G>C (p.Leu500=) c.77G>C c.954G>C (p.Leu318=) c.915G>C (p.Leu305=) c.1218G>C (p.Leu406=) c.1065G>C (p.Leu355=)
8	g.143728564C>T	CA463520008	FAM83H	c.897G>A (p.Leu299=) c.1500G>A (p.Leu500=) c.77G>A c.954G>A (p.Leu318=) c.915G>A (p.Leu305=) c.1218G>A (p.Leu406=) c.1065G>A (p.Leu355=)
8	g.143728565A>C	CA372469191	FAM83H	c.896T>G (p.Leu299Arg) c.1499T>G (p.Leu500Arg) c.76T>G c.953T>G (p.Leu318Arg) c.914T>G (p.Leu305Arg) c.1217T>G (p.Leu406Arg) c.1064T>G (p.Leu355Arg)
8	g.143728565A>G	CA372469194	FAM83H	c.896T>C (p.Leu299Pro) c.1499T>C (p.Leu500Pro) c.76T>C c.953T>C (p.Leu318Pro) c.914T>C (p.Leu305Pro) c.1217T>C (p.Leu406Pro) c.1064T>C (p.Leu355Pro)
8	g.143728565A>T	CA372469192	FAM83H	c.896T>A (p.Leu299Gln) c.1499T>A (p.Leu500Gln) c.76T>A c.953T>A (p.Leu318Gln) c.914T>A (p.Leu305Gln) c.1217T>A (p.Leu406Gln) c.1064T>A (p.Leu355Gln)
8	g.143728566G>A	CA463520017	FAM83H	c.895C>T (p.Leu299=) c.1498C>T (p.Leu500=) c.75C>T c.952C>T (p.Leu318=) c.913C>T (p.Leu305=) c.1216C>T (p.Leu406=) c.1063C>T (p.Leu355=)	dbSNP
8	g.143728566G>C	CA372469196	FAM83H	c.895C>G (p.Leu299Val) c.1498C>G (p.Leu500Val) c.75C>G c.952C>G (p.Leu318Val) c.913C>G (p.Leu305Val) c.1216C>G (p.Leu406Val) c.1063C>G (p.Leu355Val)
8	g.143728566G=	CA1825940849	FAM83H	c.895C= (p.Leu299=) c.1498C= (p.Leu500=) c.75C= c.952C= (p.Leu318=) c.913C= (p.Leu305=) c.1216C= (p.Leu406=) c.1063C= (p.Leu355=)
8	g.143728566G>T	CA372469198	FAM83H	c.895C>A (p.Leu299Met) c.1498C>A (p.Leu500Met) c.75C>A c.952C>A (p.Leu318Met) c.913C>A (p.Leu305Met) c.1216C>A (p.Leu406Met) c.1063C>A (p.Leu355Met)	gnomAD v4
8	g.143728567G>A	CA463520018	FAM83H	c.894C>T (p.Ala298=) c.1497C>T (p.Ala499=) c.74C>T c.951C>T (p.Ala317=) c.912C>T (p.Ala304=) c.1215C>T (p.Ala405=) c.1062C>T (p.Ala354=)	dbSNP gnomAD v4
8	g.143728567G>C	CA463520023	FAM83H	c.894C>G (p.Ala298=) c.1497C>G (p.Ala499=) c.74C>G c.951C>G (p.Ala317=) c.912C>G (p.Ala304=) c.1215C>G (p.Ala405=) c.1062C>G (p.Ala354=)	gnomAD v4
8	g.143728567G>T	CA463520020	FAM83H	c.894C>A (p.Ala298=) c.1497C>A (p.Ala499=) c.74C>A c.951C>A (p.Ala317=) c.912C>A (p.Ala304=) c.1215C>A (p.Ala405=) c.1062C>A (p.Ala354=)
8	g.143728568G>A	CA372469202	FAM83H	c.893C>T (p.Ala298Val) c.1496C>T (p.Ala499Val) c.73C>T c.950C>T (p.Ala317Val) c.911C>T (p.Ala304Val) c.1214C>T (p.Ala405Val) c.1061C>T (p.Ala354Val)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8	g.143728568G>C	CA372469203	FAM83H	c.893C>G (p.Ala298Gly) c.1496C>G (p.Ala499Gly) c.73C>G c.950C>G (p.Ala317Gly) c.911C>G (p.Ala304Gly) c.1214C>G (p.Ala405Gly) c.1061C>G (p.Ala354Gly)
8	g.143728568G=	CA1825940850	FAM83H	c.893C= (p.Ala298=) c.1496C= (p.Ala499=) c.73C= c.950C= (p.Ala317=) c.911C= (p.Ala304=) c.1214C= (p.Ala405=) c.1061C= (p.Ala354=)
8	g.143728568G>T	CA372469206	FAM83H	c.893C>A (p.Ala298Asp) c.1496C>A (p.Ala499Asp) c.73C>A c.950C>A (p.Ala317Asp) c.911C>A (p.Ala304Asp) c.1214C>A (p.Ala405Asp) c.1061C>A (p.Ala354Asp)
8	g.143728569C>A	CA372469209	FAM83H	c.892G>T (p.Ala298Ser) c.1495G>T (p.Ala499Ser) c.72G>T c.949G>T (p.Ala317Ser) c.910G>T (p.Ala304Ser) c.1213G>T (p.Ala405Ser) c.1060G>T (p.Ala354Ser)
8	g.143728569C=	CA1825940851	FAM83H	c.892G= (p.Ala298=) c.1495G= (p.Ala499=) c.72G= c.949G= (p.Ala317=) c.910G= (p.Ala304=) c.1213G= (p.Ala405=) c.1060G= (p.Ala354=)
8	g.143728569C>G	CA372469211	FAM83H	c.892G>C (p.Ala298Pro) c.1495G>C (p.Ala499Pro) c.72G>C c.949G>C (p.Ala317Pro) c.910G>C (p.Ala304Pro) c.1213G>C (p.Ala405Pro) c.1060G>C (p.Ala354Pro)	dbSNP
8	g.143728569C>T	CA372469212	FAM83H	c.892G>A (p.Ala298Thr) c.1495G>A (p.Ala499Thr) c.72G>A c.949G>A (p.Ala317Thr) c.910G>A (p.Ala304Thr) c.1213G>A (p.Ala405Thr) c.1060G>A (p.Ala354Thr)	dbSNP gnomAD v2 gnomAD v4
8	g.143728570A=	CA1825940852	FAM83H	c.891T= (p.Tyr297=) c.1494T= (p.Tyr498=) c.71T= c.948T= (p.Tyr316=) c.909T= (p.Tyr303=) c.1212T= (p.Tyr404=) c.1059T= (p.Tyr353=)
8	g.143728570A>C	CA372469213	FAM83H	c.891T>G (p.Tyr297Ter) c.1494T>G (p.Tyr498Ter) c.71T>G c.948T>G (p.Tyr316Ter) c.909T>G (p.Tyr303Ter) c.1212T>G (p.Tyr404Ter) c.1059T>G (p.Tyr353Ter)
8	g.143728570A>G	CA463520032	FAM83H	c.891T>C (p.Tyr297=) c.1494T>C (p.Tyr498=) c.71T>C c.948T>C (p.Tyr316=) c.909T>C (p.Tyr303=) c.1212T>C (p.Tyr404=) c.1059T>C (p.Tyr353=)	gnomAD v4
8	g.143728570A>T	CA114497	FAM83H	c.891T>A (p.Tyr297Ter) c.1494T>A (p.Tyr498Ter) c.71T>A c.948T>A (p.Tyr316Ter) c.909T>A (p.Tyr303Ter) c.1212T>A (p.Tyr404Ter) c.1059T>A (p.Tyr353Ter)	ClinVar dbSNP
8	g.143728571T>A	CA372469218	FAM83H	c.890A>T (p.Tyr297Phe) c.1493A>T (p.Tyr498Phe) c.70A>T c.947A>T (p.Tyr316Phe) c.908A>T (p.Tyr303Phe) c.1211A>T (p.Tyr404Phe) c.1058A>T (p.Tyr353Phe)
8	g.143728571T>C	CA372469220	FAM83H	c.890A>G (p.Tyr297Cys) c.1493A>G (p.Tyr498Cys) c.70A>G c.947A>G (p.Tyr316Cys) c.908A>G (p.Tyr303Cys) c.1211A>G (p.Tyr404Cys) c.1058A>G (p.Tyr353Cys)	dbSNP gnomAD v3 gnomAD v4
8	g.143728571T>G	CA372469216	FAM83H	c.890A>C (p.Tyr297Ser) c.1493A>C (p.Tyr498Ser) c.70A>C c.947A>C (p.Tyr316Ser) c.908A>C (p.Tyr303Ser) c.1211A>C (p.Tyr404Ser) c.1058A>C (p.Tyr353Ser)
8	g.143728571T=	CA1825940853	FAM83H	c.890A= (p.Tyr297=) c.1493A= (p.Tyr498=) c.70A= c.947A= (p.Tyr316=) c.908A= (p.Tyr303=) c.1211A= (p.Tyr404=) c.1058A= (p.Tyr353=)
8	g.143728572A>C	CA372469221	FAM83H	c.889T>G (p.Tyr297Asp) c.1492T>G (p.Tyr498Asp) c.69T>G c.946T>G (p.Tyr316Asp) c.907T>G (p.Tyr303Asp) c.1210T>G (p.Tyr404Asp) c.1057T>G (p.Tyr353Asp)
8	g.143728572A>G	CA372469223	FAM83H	c.889T>C (p.Tyr297His) c.1492T>C (p.Tyr498His) c.69T>C c.946T>C (p.Tyr316His) c.907T>C (p.Tyr303His) c.1210T>C (p.Tyr404His) c.1057T>C (p.Tyr353His)
8	g.143728572A>T	CA372469224	FAM83H	c.889T>A (p.Tyr297Asn) c.1492T>A (p.Tyr498Asn) c.69T>A c.946T>A (p.Tyr316Asn) c.907T>A (p.Tyr303Asn) c.1210T>A (p.Tyr404Asn) c.1057T>A (p.Tyr353Asn)
8	g.143728573G>A	CA463519879	FAM83H	c.888C>T (p.Ala296=) c.1491C>T (p.Ala497=) c.68C>T c.945C>T (p.Ala315=) c.906C>T (p.Ala302=) c.1209C>T (p.Ala403=) c.1056C>T (p.Ala352=)	gnomAD v4
8	g.143728573G>C	CA463519884	FAM83H	c.888C>G (p.Ala296=) c.1491C>G (p.Ala497=) c.68C>G c.945C>G (p.Ala315=) c.906C>G (p.Ala302=) c.1209C>G (p.Ala403=) c.1056C>G (p.Ala352=)
8	g.143728573G>T	CA463519883	FAM83H	c.888C>A (p.Ala296=) c.1491C>A (p.Ala497=) c.68C>A c.945C>A (p.Ala315=) c.906C>A (p.Ala302=) c.1209C>A (p.Ala403=) c.1056C>A (p.Ala352=)
8	g.143728574G>A	CA372469226	FAM83H	c.887C>T (p.Ala296Val) c.1490C>T (p.Ala497Val) c.67C>T c.944C>T (p.Ala315Val) c.905C>T (p.Ala302Val) c.1208C>T (p.Ala403Val) c.1055C>T (p.Ala352Val)
8	g.143728574G>C	CA372469228	FAM83H	c.887C>G (p.Ala296Gly) c.1490C>G (p.Ala497Gly) c.67C>G c.944C>G (p.Ala315Gly) c.905C>G (p.Ala302Gly) c.1208C>G (p.Ala403Gly) c.1055C>G (p.Ala352Gly)
8	g.143728574G=	CA1825940854	FAM83H	c.887C= (p.Ala296=) c.1490C= (p.Ala497=) c.67C= c.944C= (p.Ala315=) c.905C= (p.Ala302=) c.1208C= (p.Ala403=) c.1055C= (p.Ala352=)
8	g.143728574G>T	CA372469229	FAM83H	c.887C>A (p.Ala296Asp) c.1490C>A (p.Ala497Asp) c.67C>A c.944C>A (p.Ala315Asp) c.905C>A (p.Ala302Asp) c.1208C>A (p.Ala403Asp) c.1055C>A (p.Ala352Asp)	dbSNP gnomAD v4
8	g.143728575C>A	CA372469231	FAM83H	c.886G>T (p.Ala296Ser) c.1489G>T (p.Ala497Ser) c.66G>T c.943G>T (p.Ala315Ser) c.904G>T (p.Ala302Ser) c.1207G>T (p.Ala403Ser) c.1054G>T (p.Ala352Ser)	gnomAD v4
8	g.143728575C=	CA1825940855	FAM83H	c.886G= (p.Ala296=) c.1489G= (p.Ala497=) c.66G= c.943G= (p.Ala315=) c.904G= (p.Ala302=) c.1207G= (p.Ala403=) c.1054G= (p.Ala352=)
8	g.143728575C>G	CA372469233	FAM83H	c.886G>C (p.Ala296Pro) c.1489G>C (p.Ala497Pro) c.66G>C c.943G>C (p.Ala315Pro) c.904G>C (p.Ala302Pro) c.1207G>C (p.Ala403Pro) c.1054G>C (p.Ala352Pro)
8	g.143728575C>T	CA4917562	FAM83H	c.886G>A (p.Ala296Thr) c.1489G>A (p.Ala497Thr) c.66G>A c.943G>A (p.Ala315Thr) c.904G>A (p.Ala302Thr) c.1207G>A (p.Ala403Thr) c.1054G>A (p.Ala352Thr)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8	g.143728576G>A	CA4917563	FAM83H	c.885C>T (p.Asp295=) c.1488C>T (p.Asp496=) c.65C>T c.942C>T (p.Asp314=) c.903C>T (p.Asp301=) c.1206C>T (p.Asp402=) c.1053C>T (p.Asp351=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8	g.143728576G>C	CA372469236	FAM83H	c.885C>G (p.Asp295Glu) c.1488C>G (p.Asp496Glu) c.65C>G c.942C>G (p.Asp314Glu) c.903C>G (p.Asp301Glu) c.1206C>G (p.Asp402Glu) c.1053C>G (p.Asp351Glu)	dbSNP
8	g.143728576G=	CA1825940856	FAM83H	c.885C= (p.Asp295=) c.1488C= (p.Asp496=) c.65C= c.942C= (p.Asp314=) c.903C= (p.Asp301=) c.1206C= (p.Asp402=) c.1053C= (p.Asp351=)
8	g.143728576G>T	CA372469238	FAM83H	c.885C>A (p.Asp295Glu) c.1488C>A (p.Asp496Glu) c.65C>A c.942C>A (p.Asp314Glu) c.903C>A (p.Asp301Glu) c.1206C>A (p.Asp402Glu) c.1053C>A (p.Asp351Glu)
8	g.143728577T>A	CA372469242	FAM83H	c.884A>T (p.Asp295Val) c.1487A>T (p.Asp496Val) c.64A>T c.941A>T (p.Asp314Val) c.902A>T (p.Asp301Val) c.1205A>T (p.Asp402Val) c.1052A>T (p.Asp351Val)
8	g.143728577T>C	CA372469244	FAM83H	c.884A>G (p.Asp295Gly) c.1487A>G (p.Asp496Gly) c.64A>G c.941A>G (p.Asp314Gly) c.902A>G (p.Asp301Gly) c.1205A>G (p.Asp402Gly) c.1052A>G (p.Asp351Gly)
8	g.143728577T>G	CA372469240	FAM83H	c.884A>C (p.Asp295Ala) c.1487A>C (p.Asp496Ala) c.64A>C c.941A>C (p.Asp314Ala) c.902A>C (p.Asp301Ala) c.1205A>C (p.Asp402Ala) c.1052A>C (p.Asp351Ala)
8	g.143728578C>A	CA372469245	FAM83H	c.883G>T (p.Asp295Tyr) c.1486G>T (p.Asp496Tyr) c.63G>T c.940G>T (p.Asp314Tyr) c.901G>T (p.Asp301Tyr) c.1204G>T (p.Asp402Tyr) c.1051G>T (p.Asp351Tyr)
8	g.143728578C>G	CA372469247	FAM83H	c.883G>C (p.Asp295His) c.1486G>C (p.Asp496His) c.63G>C c.940G>C (p.Asp314His) c.901G>C (p.Asp301His) c.1204G>C (p.Asp402His) c.1051G>C (p.Asp351His)
8	g.143728578C>T	CA372469249	FAM83H	c.883G>A (p.Asp295Asn) c.1486G>A (p.Asp496Asn) c.63G>A c.940G>A (p.Asp314Asn) c.901G>A (p.Asp301Asn) c.1204G>A (p.Asp402Asn) c.1051G>A (p.Asp351Asn)
8	g.143728579C>A	CA372469251	FAM83H	c.882G>T (p.Met294Ile) c.1485G>T (p.Met495Ile) c.62G>T c.939G>T (p.Met313Ile) c.900G>T (p.Met300Ile) c.1203G>T (p.Met401Ile) c.1050G>T (p.Met350Ile)
8	g.143728579C>G	CA372469253	FAM83H	c.882G>C (p.Met294Ile) c.1485G>C (p.Met495Ile) c.62G>C c.939G>C (p.Met313Ile) c.900G>C (p.Met300Ile) c.1203G>C (p.Met401Ile) c.1050G>C (p.Met350Ile)
8	g.143728579C>T	CA372469257	FAM83H	c.882G>A (p.Met294Ile) c.1485G>A (p.Met495Ile) c.62G>A c.939G>A (p.Met313Ile) c.900G>A (p.Met300Ile) c.1203G>A (p.Met401Ile) c.1050G>A (p.Met350Ile)
8	g.143728580A=	CA1825940857	FAM83H	c.881T= (p.Met294=) c.1484T= (p.Met495=) c.61T= c.938T= (p.Met313=) c.899T= (p.Met300=) c.1202T= (p.Met401=) c.1049T= (p.Met350=)
8	g.143728580A>C	CA372469262	FAM83H	c.881T>G (p.Met294Arg) c.1484T>G (p.Met495Arg) c.61T>G c.938T>G (p.Met313Arg) c.899T>G (p.Met300Arg) c.1202T>G (p.Met401Arg) c.1049T>G (p.Met350Arg)
8	g.143728580A>G	CA372469259	FAM83H	c.881T>C (p.Met294Thr) c.1484T>C (p.Met495Thr) c.61T>C c.938T>C (p.Met313Thr) c.899T>C (p.Met300Thr) c.1202T>C (p.Met401Thr) c.1049T>C (p.Met350Thr)
8	g.143728580A>T	CA372469260	FAM83H	c.881T>A (p.Met294Lys) c.1484T>A (p.Met495Lys) c.61T>A c.938T>A (p.Met313Lys) c.899T>A (p.Met300Lys) c.1202T>A (p.Met401Lys) c.1049T>A (p.Met350Lys)	dbSNP gnomAD v2 gnomAD v4
8	g.143728581T>A	CA372469263	FAM83H	c.880A>T (p.Met294Leu) c.1483A>T (p.Met495Leu) c.60A>T c.937A>T (p.Met313Leu) c.898A>T (p.Met300Leu) c.1201A>T (p.Met401Leu) c.1048A>T (p.Met350Leu)
8	g.143728581T>C	CA372469265	FAM83H	c.880A>G (p.Met294Val) c.1483A>G (p.Met495Val) c.60A>G c.937A>G (p.Met313Val) c.898A>G (p.Met300Val) c.1201A>G (p.Met401Val) c.1048A>G (p.Met350Val)	gnomAD v4
8	g.143728581T>G	CA372469267	FAM83H	c.880A>C (p.Met294Leu) c.1483A>C (p.Met495Leu) c.60A>C c.937A>C (p.Met313Leu) c.898A>C (p.Met300Leu) c.1201A>C (p.Met401Leu) c.1048A>C (p.Met350Leu)
8	g.143728582G>A	CA463519907	FAM83H	c.879C>T (p.Arg293=) c.1482C>T (p.Arg494=) c.59C>T c.936C>T (p.Arg312=) c.897C>T (p.Arg299=) c.1200C>T (p.Arg400=) c.1047C>T (p.Arg349=)	gnomAD v4
8	g.143728582G>C	CA463519908	FAM83H	c.879C>G (p.Arg293=) c.1482C>G (p.Arg494=) c.59C>G c.936C>G (p.Arg312=) c.897C>G (p.Arg299=) c.1200C>G (p.Arg400=) c.1047C>G (p.Arg349=)
8	g.143728582G>T	CA463519909	FAM83H	c.879C>A (p.Arg293=) c.1482C>A (p.Arg494=) c.59C>A c.936C>A (p.Arg312=) c.897C>A (p.Arg299=) c.1200C>A (p.Arg400=) c.1047C>A (p.Arg349=)	gnomAD v4
8	g.143728583C>A	CA4917565	FAM83H	c.878G>T (p.Arg293Leu) c.1481G>T (p.Arg494Leu) c.58G>T c.935G>T (p.Arg312Leu) c.896G>T (p.Arg299Leu) c.1199G>T (p.Arg400Leu) c.1046G>T (p.Arg349Leu)	dbSNP ExAC gnomAD v2 gnomAD v4
8	g.143728583C=	CA1825940858	FAM83H	c.878G= (p.Arg293=) c.1481G= (p.Arg494=) c.58G= c.935G= (p.Arg312=) c.896G= (p.Arg299=) c.1199G= (p.Arg400=) c.1046G= (p.Arg349=)
8	g.143728583C>G	CA372469270	FAM83H	c.878G>C (p.Arg293Pro) c.1481G>C (p.Arg494Pro) c.58G>C c.935G>C (p.Arg312Pro) c.896G>C (p.Arg299Pro) c.1199G>C (p.Arg400Pro) c.1046G>C (p.Arg349Pro)
8	g.143728583C>T	CA4917564	FAM83H	c.878G>A (p.Arg293His) c.1481G>A (p.Arg494His) c.58G>A c.935G>A (p.Arg312His) c.896G>A (p.Arg299His) c.1199G>A (p.Arg400His) c.1046G>A (p.Arg349His)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8	g.143728584G>A	CA4917566	FAM83H	c.877C>T (p.Arg293Cys) c.1480C>T (p.Arg494Cys) c.57C>T c.934C>T (p.Arg312Cys) c.895C>T (p.Arg299Cys) c.1198C>T (p.Arg400Cys) c.1045C>T (p.Arg349Cys)	dbSNP ExAC gnomAD v3 gnomAD v4 COSMIC
8	g.143728584G>C	CA4917567	FAM83H	c.877C>G (p.Arg293Gly) c.1480C>G (p.Arg494Gly) c.57C>G c.934C>G (p.Arg312Gly) c.895C>G (p.Arg299Gly) c.1198C>G (p.Arg400Gly) c.1045C>G (p.Arg349Gly)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8	g.143728584G=	CA1825940859	FAM83H	c.877C= (p.Arg293=) c.1480C= (p.Arg494=) c.57C= c.934C= (p.Arg312=) c.895C= (p.Arg299=) c.1198C= (p.Arg400=) c.1045C= (p.Arg349=)
8	g.143728584G>T	CA372469273	FAM83H	c.877C>A (p.Arg293Ser) c.1480C>A (p.Arg494Ser) c.57C>A c.934C>A (p.Arg312Ser) c.895C>A (p.Arg299Ser) c.1198C>A (p.Arg400Ser) c.1045C>A (p.Arg349Ser)
8	g.143728586dup	CA2688981309	FAM83H	c.877dup (p.Arg293ProfsTer?) c.1480dup (p.Arg494ProfsTer?) c.57dup c.934dup (p.Arg312ProfsTer?) c.895dup (p.Arg299ProfsTer?) c.1198dup (p.Arg400ProfsTer?) c.1045dup (p.Arg349ProfsTer?)	gnomAD v4
8	g.143728589_143728594dup	CA2782562265	FAM83H	c.872_877dup (p.Ala292_Arg293insLeuAla) c.1475_1480dup (p.Ala493_Arg494insLeuAla) c.52_57dup c.929_934dup (p.Ala311_Arg312insLeuAla) c.890_895dup (p.Ala298_Arg299insLeuAla) c.1193_1198dup (p.Ala399_Arg400insLeuAla) c.1040_1045dup (p.Ala348_Arg349insLeuAla)
8	g.143728585G>A	CA463519916	FAM83H	c.876C>T (p.Ala292=) c.1479C>T (p.Ala493=) c.56C>T c.933C>T (p.Ala311=) c.894C>T (p.Ala298=) c.1197C>T (p.Ala399=) c.1044C>T (p.Ala348=)
8	g.143728585G>C	CA463519919	FAM83H	c.876C>G (p.Ala292=) c.1479C>G (p.Ala493=) c.56C>G c.933C>G (p.Ala311=) c.894C>G (p.Ala298=) c.1197C>G (p.Ala399=) c.1044C>G (p.Ala348=)
8	g.143728585G>T	CA463519920	FAM83H	c.876C>A (p.Ala292=) c.1479C>A (p.Ala493=) c.56C>A c.933C>A (p.Ala311=) c.894C>A (p.Ala298=) c.1197C>A (p.Ala399=) c.1044C>A (p.Ala348=)
8	g.143728586G>A	CA372469275	FAM83H	c.875C>T (p.Ala292Val) c.1478C>T (p.Ala493Val) c.55C>T c.932C>T (p.Ala311Val) c.893C>T (p.Ala298Val) c.1196C>T (p.Ala399Val) c.1043C>T (p.Ala348Val)	dbSNP gnomAD v3 gnomAD v4
8	g.143728586G>C	CA372469278	FAM83H	c.875C>G (p.Ala292Gly) c.1478C>G (p.Ala493Gly) c.55C>G c.932C>G (p.Ala311Gly) c.893C>G (p.Ala298Gly) c.1196C>G (p.Ala399Gly) c.1043C>G (p.Ala348Gly)
8	g.143728586G=	CA1825940860	FAM83H	c.875C= (p.Ala292=) c.1478C= (p.Ala493=) c.55C= c.932C= (p.Ala311=) c.893C= (p.Ala298=) c.1196C= (p.Ala399=) c.1043C= (p.Ala348=)
8	g.143728586G>T	CA372469276	FAM83H	c.875C>A (p.Ala292Asp) c.1478C>A (p.Ala493Asp) c.55C>A c.932C>A (p.Ala311Asp) c.893C>A (p.Ala298Asp) c.1196C>A (p.Ala399Asp) c.1043C>A (p.Ala348Asp)
8	g.143728587C>A	CA372469280	FAM83H	c.874G>T (p.Ala292Ser) c.1477G>T (p.Ala493Ser) c.54G>T c.931G>T (p.Ala311Ser) c.892G>T (p.Ala298Ser) c.1195G>T (p.Ala399Ser) c.1042G>T (p.Ala348Ser)	gnomAD v4
8	g.143728587C>G	CA372469283	FAM83H	c.874G>C (p.Ala292Pro) c.1477G>C (p.Ala493Pro) c.54G>C c.931G>C (p.Ala311Pro) c.892G>C (p.Ala298Pro) c.1195G>C (p.Ala399Pro) c.1042G>C (p.Ala348Pro)	gnomAD v4
8	g.143728587C>T	CA372469282	FAM83H	c.874G>A (p.Ala292Thr) c.1477G>A (p.Ala493Thr) c.54G>A c.931G>A (p.Ala311Thr) c.892G>A (p.Ala298Thr) c.1195G>A (p.Ala399Thr) c.1042G>A (p.Ala348Thr)
8	g.143728588C>A	CA463519923	FAM83H	c.873G>T (p.Leu291=) c.1476G>T (p.Leu492=) c.53G>T c.930G>T (p.Leu310=) c.891G>T (p.Leu297=) c.1194G>T (p.Leu398=) c.1041G>T (p.Leu347=)
8	g.143728588C>G	CA463519924	FAM83H	c.873G>C (p.Leu291=) c.1476G>C (p.Leu492=) c.53G>C c.930G>C (p.Leu310=) c.891G>C (p.Leu297=) c.1194G>C (p.Leu398=) c.1041G>C (p.Leu347=)
8	g.143728588C>T	CA463519925	FAM83H	c.873G>A (p.Leu291=) c.1476G>A (p.Leu492=) c.53G>A c.930G>A (p.Leu310=) c.891G>A (p.Leu297=) c.1194G>A (p.Leu398=) c.1041G>A (p.Leu347=)
8	g.143728589A=	CA1825940861	FAM83H	c.872T= (p.Leu291=) c.1475T= (p.Leu492=) c.52T= c.929T= (p.Leu310=) c.890T= (p.Leu297=) c.1193T= (p.Leu398=) c.1040T= (p.Leu347=)
8	g.143728589A>C	CA372469284	FAM83H	c.872T>G (p.Leu291Arg) c.1475T>G (p.Leu492Arg) c.52T>G c.929T>G (p.Leu310Arg) c.890T>G (p.Leu297Arg) c.1193T>G (p.Leu398Arg) c.1040T>G (p.Leu347Arg)	dbSNP gnomAD v4
8	g.143728589A>G	CA372469287	FAM83H	c.872T>C (p.Leu291Pro) c.1475T>C (p.Leu492Pro) c.52T>C c.929T>C (p.Leu310Pro) c.890T>C (p.Leu297Pro) c.1193T>C (p.Leu398Pro) c.1040T>C (p.Leu347Pro)	gnomAD v4
8	g.143728589A>T	CA372469286	FAM83H	c.872T>A (p.Leu291Gln) c.1475T>A (p.Leu492Gln) c.52T>A c.929T>A (p.Leu310Gln) c.890T>A (p.Leu297Gln) c.1193T>A (p.Leu398Gln) c.1040T>A (p.Leu347Gln)	dbSNP gnomAD v3 gnomAD v4
8	g.143728590G>A	CA4917568	FAM83H	c.871C>T (p.Leu291=) c.1474C>T (p.Leu492=) c.51C>T c.928C>T (p.Leu310=) c.889C>T (p.Leu297=) c.1192C>T (p.Leu398=) c.1039C>T (p.Leu347=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8	g.143728590G>C	CA372469291	FAM83H	c.871C>G (p.Leu291Val) c.1474C>G (p.Leu492Val) c.51C>G c.928C>G (p.Leu310Val) c.889C>G (p.Leu297Val) c.1192C>G (p.Leu398Val) c.1039C>G (p.Leu347Val)
8	g.143728590G=	CA1825940862	FAM83H	c.871C= (p.Leu291=) c.1474C= (p.Leu492=) c.51C= c.928C= (p.Leu310=) c.889C= (p.Leu297=) c.1192C= (p.Leu398=) c.1039C= (p.Leu347=)
8	g.143728590G>T	CA372469293	FAM83H	c.871C>A (p.Leu291Met) c.1474C>A (p.Leu492Met) c.51C>A c.928C>A (p.Leu310Met) c.889C>A (p.Leu297Met) c.1192C>A (p.Leu398Met) c.1039C>A (p.Leu347Met)
8	g.143728592del	CA2688981315	FAM83H	c.871del (p.Leu291TrpfsTer?) c.1474del (p.Leu492TrpfsTer?) c.51del c.928del (p.Leu310TrpfsTer?) c.889del (p.Leu297TrpfsTer?) c.1192del (p.Leu398TrpfsTer?) c.1039del (p.Leu347TrpfsTer?)	gnomAD v4
8	g.143728591G>A	CA463519932	FAM83H	c.870C>T (p.Ala290=) c.1473C>T (p.Ala491=) c.50C>T c.927C>T (p.Ala309=) c.888C>T (p.Ala296=) c.1191C>T (p.Ala397=) c.1038C>T (p.Ala346=)	gnomAD v4
8	g.143728591G>C	CA463519933	FAM83H	c.870C>G (p.Ala290=) c.1473C>G (p.Ala491=) c.50C>G c.927C>G (p.Ala309=) c.888C>G (p.Ala296=) c.1191C>G (p.Ala397=) c.1038C>G (p.Ala346=)
8	g.143728591G>T	CA463519934	FAM83H	c.870C>A (p.Ala290=) c.1473C>A (p.Ala491=) c.50C>A c.927C>A (p.Ala309=) c.888C>A (p.Ala296=) c.1191C>A (p.Ala397=) c.1038C>A (p.Ala346=)
8	g.143728592G>A	CA4917569	FAM83H	c.869C>T (p.Ala290Val) c.1472C>T (p.Ala491Val) c.49C>T c.926C>T (p.Ala309Val) c.887C>T (p.Ala296Val) c.1190C>T (p.Ala397Val) c.1037C>T (p.Ala346Val)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8	g.143728592G>C	CA372469297	FAM83H	c.869C>G (p.Ala290Gly) c.1472C>G (p.Ala491Gly) c.49C>G c.926C>G (p.Ala309Gly) c.887C>G (p.Ala296Gly) c.1190C>G (p.Ala397Gly) c.1037C>G (p.Ala346Gly)
8	g.143728592G=	CA1825940863	FAM83H	c.869C= (p.Ala290=) c.1472C= (p.Ala491=) c.49C= c.926C= (p.Ala309=) c.887C= (p.Ala296=) c.1190C= (p.Ala397=) c.1037C= (p.Ala346=)
8	g.143728592G>T	CA372469298	FAM83H	c.869C>A (p.Ala290Asp) c.1472C>A (p.Ala491Asp) c.49C>A c.926C>A (p.Ala309Asp) c.887C>A (p.Ala296Asp) c.1190C>A (p.Ala397Asp) c.1037C>A (p.Ala346Asp)
8	g.143728593C>A	CA372469300	FAM83H	c.868G>T (p.Ala290Ser) c.1471G>T (p.Ala491Ser) c.48G>T c.925G>T (p.Ala309Ser) c.886G>T (p.Ala296Ser) c.1189G>T (p.Ala397Ser) c.1036G>T (p.Ala346Ser)
8	g.143728593C=	CA1825940864	FAM83H	c.868G= (p.Ala290=) c.1471G= (p.Ala491=) c.48G= c.925G= (p.Ala309=) c.886G= (p.Ala296=) c.1189G= (p.Ala397=) c.1036G= (p.Ala346=)
8	g.143728593C>G	CA372469301	FAM83H	c.868G>C (p.Ala290Pro) c.1471G>C (p.Ala491Pro) c.48G>C c.925G>C (p.Ala309Pro) c.886G>C (p.Ala296Pro) c.1189G>C (p.Ala397Pro) c.1036G>C (p.Ala346Pro)
8	g.143728593C>T	CA187605625	FAM83H	c.868G>A (p.Ala290Thr) c.1471G>A (p.Ala491Thr) c.48G>A c.925G>A (p.Ala309Thr) c.886G>A (p.Ala296Thr) c.1189G>A (p.Ala397Thr) c.1036G>A (p.Ala346Thr)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8	g.143728594C>A	CA463519947	FAM83H	c.867G>T (p.Ala289=) c.1470G>T (p.Ala490=) c.47G>T c.924G>T (p.Ala308=) c.885G>T (p.Ala295=) c.1188G>T (p.Ala396=) c.1035G>T (p.Ala345=)
8	g.143728594C>G	CA463519948	FAM83H	c.867G>C (p.Ala289=) c.1470G>C (p.Ala490=) c.47G>C c.924G>C (p.Ala308=) c.885G>C (p.Ala295=) c.1188G>C (p.Ala396=) c.1035G>C (p.Ala345=)
8	g.143728594C>T	CA463519951	FAM83H	c.867G>A (p.Ala289=) c.1470G>A (p.Ala490=) c.47G>A c.924G>A (p.Ala308=) c.885G>A (p.Ala295=) c.1188G>A (p.Ala396=) c.1035G>A (p.Ala345=)
8	g.143728595G>A	CA187605633	FAM83H	c.866C>T (p.Ala289Val) c.1469C>T (p.Ala490Val) c.46C>T c.923C>T (p.Ala308Val) c.884C>T (p.Ala295Val) c.1187C>T (p.Ala396Val) c.1034C>T (p.Ala345Val)	dbSNP gnomAD v3 gnomAD v4
8	g.143728595G>C	CA372469305	FAM83H	c.866C>G (p.Ala289Gly) c.1469C>G (p.Ala490Gly) c.46C>G c.923C>G (p.Ala308Gly) c.884C>G (p.Ala295Gly) c.1187C>G (p.Ala396Gly) c.1034C>G (p.Ala345Gly)
8	g.143728595G=	CA1825940865	FAM83H	c.866C= (p.Ala289=) c.1469C= (p.Ala490=) c.46C= c.923C= (p.Ala308=) c.884C= (p.Ala295=) c.1187C= (p.Ala396=) c.1034C= (p.Ala345=)
8	g.143728595G>T	CA372469306	FAM83H	c.866C>A (p.Ala289Glu) c.1469C>A (p.Ala490Glu) c.46C>A c.923C>A (p.Ala308Glu) c.884C>A (p.Ala295Glu) c.1187C>A (p.Ala396Glu) c.1034C>A (p.Ala345Glu)	gnomAD v4
8	g.143728596C>A	CA372469309	FAM83H	c.865G>T (p.Ala289Ser) c.1468G>T (p.Ala490Ser) c.45G>T c.922G>T (p.Ala308Ser) c.883G>T (p.Ala295Ser) c.1186G>T (p.Ala396Ser) c.1033G>T (p.Ala345Ser)
8	g.143728596C=	CA1825940866	FAM83H	c.865G= (p.Ala289=) c.1468G= (p.Ala490=) c.45G= c.922G= (p.Ala308=) c.883G= (p.Ala295=) c.1186G= (p.Ala396=) c.1033G= (p.Ala345=)
8	g.143728596C>G	CA372469313	FAM83H	c.865G>C (p.Ala289Pro) c.1468G>C (p.Ala490Pro) c.45G>C c.922G>C (p.Ala308Pro) c.883G>C (p.Ala295Pro) c.1186G>C (p.Ala396Pro) c.1033G>C (p.Ala345Pro)
8	g.143728596C>T	CA372469311	FAM83H	c.865G>A (p.Ala289Thr) c.1468G>A (p.Ala490Thr) c.45G>A c.922G>A (p.Ala308Thr) c.883G>A (p.Ala295Thr) c.1186G>A (p.Ala396Thr) c.1033G>A (p.Ala345Thr)	dbSNP gnomAD v3 gnomAD v4 COSMIC
8	g.143728597G>A	CA4917571	FAM83H	c.864C>T (p.Ala288=) c.1467C>T (p.Ala489=) c.44C>T c.921C>T (p.Ala307=) c.882C>T (p.Ala294=) c.1185C>T (p.Ala395=) c.1032C>T (p.Ala344=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8	g.143728597G>C	CA4917570	FAM83H	c.864C>G (p.Ala288=) c.1467C>G (p.Ala489=) c.44C>G c.921C>G (p.Ala307=) c.882C>G (p.Ala294=) c.1185C>G (p.Ala395=) c.1032C>G (p.Ala344=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8	g.143728597G=	CA1825940867	FAM83H	c.864C= (p.Ala288=) c.1467C= (p.Ala489=) c.44C= c.921C= (p.Ala307=) c.882C= (p.Ala294=) c.1185C= (p.Ala395=) c.1032C= (p.Ala344=)
8	g.143728597G>T	CA463519966	FAM83H	c.864C>A (p.Ala288=) c.1467C>A (p.Ala489=) c.44C>A c.921C>A (p.Ala307=) c.882C>A (p.Ala294=) c.1185C>A (p.Ala395=) c.1032C>A (p.Ala344=)	gnomAD v4
8	g.143728598G>A	CA372469315	FAM83H	c.863C>T (p.Ala288Val) c.1466C>T (p.Ala489Val) c.43C>T c.920C>T (p.Ala307Val) c.881C>T (p.Ala294Val) c.1184C>T (p.Ala395Val) c.1031C>T (p.Ala344Val)	dbSNP gnomAD v3 gnomAD v4
8	g.143728598G>C	CA372469316	FAM83H	c.863C>G (p.Ala288Gly) c.1466C>G (p.Ala489Gly) c.43C>G c.920C>G (p.Ala307Gly) c.881C>G (p.Ala294Gly) c.1184C>G (p.Ala395Gly) c.1031C>G (p.Ala344Gly)
8	g.143728598G=	CA1825940868	FAM83H	c.863C= (p.Ala288=) c.1466C= (p.Ala489=) c.43C= c.920C= (p.Ala307=) c.881C= (p.Ala294=) c.1184C= (p.Ala395=) c.1031C= (p.Ala344=)
8	g.143728598G>T	CA372469317	FAM83H	c.863C>A (p.Ala288Asp) c.1466C>A (p.Ala489Asp) c.43C>A c.920C>A (p.Ala307Asp) c.881C>A (p.Ala294Asp) c.1184C>A (p.Ala395Asp) c.1031C>A (p.Ala344Asp)
8	g.143728599C>A	CA372469319	FAM83H	c.862G>T (p.Ala288Ser) c.1465G>T (p.Ala489Ser) c.42G>T c.919G>T (p.Ala307Ser) c.880G>T (p.Ala294Ser) c.1183G>T (p.Ala395Ser) c.1030G>T (p.Ala344Ser)
8	g.143728599C=	CA1825940869	FAM83H	c.862G= (p.Ala288=) c.1465G= (p.Ala489=) c.42G= c.919G= (p.Ala307=) c.880G= (p.Ala294=) c.1183G= (p.Ala395=) c.1030G= (p.Ala344=)
8	g.143728599C>G	CA372469321	FAM83H	c.862G>C (p.Ala288Pro) c.1465G>C (p.Ala489Pro) c.42G>C c.919G>C (p.Ala307Pro) c.880G>C (p.Ala294Pro) c.1183G>C (p.Ala395Pro) c.1030G>C (p.Ala344Pro)
8	g.143728599C>T	CA372469322	FAM83H	c.862G>A (p.Ala288Thr) c.1465G>A (p.Ala489Thr) c.42G>A c.919G>A (p.Ala307Thr) c.880G>A (p.Ala294Thr) c.1183G>A (p.Ala395Thr) c.1030G>A (p.Ala344Thr)	dbSNP gnomAD v2 gnomAD v4
8	g.143728600C>A	CA463519973	FAM83H	c.861G>T (p.Ser287=) c.1464G>T (p.Ser488=) c.41G>T c.918G>T (p.Ser306=) c.879G>T (p.Ser293=) c.1182G>T (p.Ser394=) c.1029G>T (p.Ser343=)	gnomAD v4
8	g.143728600C=	CA1825940870	FAM83H	c.861G= (p.Ser287=) c.1464G= (p.Ser488=) c.41G= c.918G= (p.Ser306=) c.879G= (p.Ser293=) c.1182G= (p.Ser394=) c.1029G= (p.Ser343=)
8	g.143728600C>G	CA463519972	FAM83H	c.861G>C (p.Ser287=) c.1464G>C (p.Ser488=) c.41G>C c.918G>C (p.Ser306=) c.879G>C (p.Ser293=) c.1182G>C (p.Ser394=) c.1029G>C (p.Ser343=)	gnomAD v4
8	g.143728600C>T	CA4917572	FAM83H	c.861G>A (p.Ser287=) c.1464G>A (p.Ser488=) c.41G>A c.918G>A (p.Ser306=) c.879G>A (p.Ser293=) c.1182G>A (p.Ser394=) c.1029G>A (p.Ser343=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8	g.143728600_143728601insTCCA	CA2688981331	FAM83H	c.860_861insTGGA (p.Ala288GlyfsTer?) c.1463_1464insTGGA (p.Ala489GlyfsTer?) c.40_41insTGGA c.917_918insTGGA (p.Ala307GlyfsTer?) c.878_879insTGGA (p.Ala294GlyfsTer?) c.1181_1182insTGGA (p.Ala395GlyfsTer?) c.1028_1029insTGGA (p.Ala344GlyfsTer?)	gnomAD v4
8	g.143728600_143728601insTCCAGCACTTCGCT	CA2688981333	FAM83H	c.860_861insAGCGAAGTGCTGGA (p.Ala289LysfsTer?) c.1463_1464insAGCGAAGTGCTGGA (p.Ala490LysfsTer?) c.40_41insAGCGAAGTGCTGGA c.917_918insAGCGAAGTGCTGGA (p.Ala308LysfsTer?) c.878_879insAGCGAAGTGCTGGA (p.Ala295LysfsTer?) c.1181_1182insAGCGAAGTGCTGGA (p.Ala396LysfsTer?) c.1028_1029insAGCGAAGTGCTGGA (p.Ala345LysfsTer?)	gnomAD v4
8	g.143728600_143728601insTCCAGCACTTCGCTGAGCAGGTCCACATCA	CA2688981335	FAM83H	c.860_861insTGATGTGGACCTGCTCAGCGAAGTGCTGGA (p.Ser287_Ala288insAspValAspLeuLeuSerGluValLeuGlu) c.1463_1464insTGATGTGGACCTGCTCAGCGAAGTGCTGGA (p.Ser488_Ala489insAspValAspLeuLeuSerGluValLeuGlu) c.40_41insTGATGTGGACCTGCTCAGCGAAGTGCTGGA c.917_918insTGATGTGGACCTGCTCAGCGAAGTGCTGGA (p.Ser306_Ala307insAspValAspLeuLeuSerGluValLeuGlu) c.878_879insTGATGTGGACCTGCTCAGCGAAGTGCTGGA (p.Ser293_Ala294insAspValAspLeuLeuSerGluValLeuGlu) c.1181_1182insTGATGTGGACCTGCTCAGCGAAGTGCTGGA (p.Ser394_Ala395insAspValAspLeuLeuSerGluValLeuGlu) c.1028_1029insTGATGTGGACCTGCTCAGCGAAGTGCTGGA (p.Ser343_Ala344insAspValAspLeuLeuSerGluValLeuGlu)	gnomAD v4
8	g.143728600_143728601insTCCAGCACTTCGCTGAGCAGGTCCACATCAGT	CA2688981336	FAM83H	c.860_861insACTGATGTGGACCTGCTCAGCGAAGTGCTGGA (p.Ala288LeufsTer?) c.1463_1464insACTGATGTGGACCTGCTCAGCGAAGTGCTGGA (p.Ala489LeufsTer?) c.40_41insACTGATGTGGACCTGCTCAGCGAAGTGCTGGA c.917_918insACTGATGTGGACCTGCTCAGCGAAGTGCTGGA (p.Ala307LeufsTer?) c.878_879insACTGATGTGGACCTGCTCAGCGAAGTGCTGGA (p.Ala294LeufsTer?) c.1181_1182insACTGATGTGGACCTGCTCAGCGAAGTGCTGGA (p.Ala395LeufsTer?) c.1028_1029insACTGATGTGGACCTGCTCAGCGAAGTGCTGGA (p.Ala344LeufsTer?)	gnomAD v4
8	g.143728600_143728601insTCCAGCACTTCGCTGAGCAGGTCCACATCAGTGAACATGTCCATCACCACGGCCACCACCT	CA2688981338	FAM83H	c.860_861insAGGTGGTGGCCGTGGTGATGGACATGTTCACTGATGTGGACCTGCTCAGCGAAGTGCTGGA (p.Ala288GlyfsTer11) c.1463_1464insAGGTGGTGGCCGTGGTGATGGACATGTTCACTGATGTGGACCTGCTCAGCGAAGTGCTGGA (p.Ala489GlyfsTer11) c.40_41insAGGTGGTGGCCGTGGTGATGGACATGTTCACTGATGTGGACCTGCTCAGCGAAGTGCTGGA c.917_918insAGGTGGTGGCCGTGGTGATGGACATGTTCACTGATGTGGACCTGCTCAGCGAAGTGCTGGA (p.Ala307GlyfsTer11) c.878_879insAGGTGGTGGCCGTGGTGATGGACATGTTCACTGATGTGGACCTGCTCAGCGAAGTGCTGGA (p.Ala294GlyfsTer11) c.1181_1182insAGGTGGTGGCCGTGGTGATGGACATGTTCACTGATGTGGACCTGCTCAGCGAAGTGCTGGA (p.Ala395GlyfsTer11) c.1028_1029insAGGTGGTGGCCGTGGTGATGGACATGTTCACTGATGTGGACCTGCTCAGCGAAGTGCTGGA (p.Ala344GlyfsTer11)	gnomAD v4
8	g.143728600_143728601insTCCAGCACTTCGCTGAGCAGGTCCACATCAGTGAACATGTCCATCACCACGGCCACCACCTGCA	CA2688981340	FAM83H	c.860_861insTGCAGGTGGTGGCCGTGGTGATGGACATGTTCACTGATGTGGACCTGCTCAGCGAAGTGCTGGA (p.Ala289GlyfsTer11) c.1463_1464insTGCAGGTGGTGGCCGTGGTGATGGACATGTTCACTGATGTGGACCTGCTCAGCGAAGTGCTGGA (p.Ala490GlyfsTer11) c.40_41insTGCAGGTGGTGGCCGTGGTGATGGACATGTTCACTGATGTGGACCTGCTCAGCGAAGTGCTGGA c.917_918insTGCAGGTGGTGGCCGTGGTGATGGACATGTTCACTGATGTGGACCTGCTCAGCGAAGTGCTGGA (p.Ala308GlyfsTer11) c.878_879insTGCAGGTGGTGGCCGTGGTGATGGACATGTTCACTGATGTGGACCTGCTCAGCGAAGTGCTGGA (p.Ala295GlyfsTer11) c.1181_1182insTGCAGGTGGTGGCCGTGGTGATGGACATGTTCACTGATGTGGACCTGCTCAGCGAAGTGCTGGA (p.Ala396GlyfsTer11) c.1028_1029insTGCAGGTGGTGGCCGTGGTGATGGACATGTTCACTGATGTGGACCTGCTCAGCGAAGTGCTGGA (p.Ala345GlyfsTer11)	gnomAD v4
8	g.143728600_143728601insTCCAGCACTTCGCTGAGCAGGTCCACATCAGTGAACATGTCCATCACCACGGCCACCACCTGCAGGGGCGGGTCAGGACG	CA2688981342	FAM83H	c.860_861insCGTCCTGACCCGCCCCTGCAGGTGGTGGCCGTGGTGATGGACATGTTCACTGATGTGGACCTGCTCAGCGAAGTGCTGGA (p.Ala288ValfsTer12) c.1463_1464insCGTCCTGACCCGCCCCTGCAGGTGGTGGCCGTGGTGATGGACATGTTCACTGATGTGGACCTGCTCAGCGAAGTGCTGGA (p.Ala489ValfsTer12) c.40_41insCGTCCTGACCCGCCCCTGCAGGTGGTGGCCGTGGTGATGGACATGTTCACTGATGTGGACCTGCTCAGCGAAGTGCTGGA c.917_918insCGTCCTGACCCGCCCCTGCAGGTGGTGGCCGTGGTGATGGACATGTTCACTGATGTGGACCTGCTCAGCGAAGTGCTGGA (p.Ala307ValfsTer12) c.878_879insCGTCCTGACCCGCCCCTGCAGGTGGTGGCCGTGGTGATGGACATGTTCACTGATGTGGACCTGCTCAGCGAAGTGCTGGA (p.Ala294ValfsTer12) c.1181_1182insCGTCCTGACCCGCCCCTGCAGGTGGTGGCCGTGGTGATGGACATGTTCACTGATGTGGACCTGCTCAGCGAAGTGCTGGA (p.Ala395ValfsTer12) c.1028_1029insCGTCCTGACCCGCCCCTGCAGGTGGTGGCCGTGGTGATGGACATGTTCACTGATGTGGACCTGCTCAGCGAAGTGCTGGA (p.Ala344ValfsTer12)	gnomAD v4
8	g.143728600_143728601insTCCAGCACTTCGCTGAGCAGGTCCACATCAGTGAACATGTCCATCACCACGGCCACCACCTGCAGGGGCGGGTCAGGACGGA	CA2688981343	FAM83H	c.860_861insTCCGTCCTGACCCGCCCCTGCAGGTGGTGGCCGTGGTGATGGACATGTTCACTGATGTGGACCTGCTCAGCGAAGTGCTGGA (p.Ala288ProfsTer3) c.1463_1464insTCCGTCCTGACCCGCCCCTGCAGGTGGTGGCCGTGGTGATGGACATGTTCACTGATGTGGACCTGCTCAGCGAAGTGCTGGA (p.Ala489ProfsTer3) c.40_41insTCCGTCCTGACCCGCCCCTGCAGGTGGTGGCCGTGGTGATGGACATGTTCACTGATGTGGACCTGCTCAGCGAAGTGCTGGA c.917_918insTCCGTCCTGACCCGCCCCTGCAGGTGGTGGCCGTGGTGATGGACATGTTCACTGATGTGGACCTGCTCAGCGAAGTGCTGGA (p.Ala307ProfsTer3) c.878_879insTCCGTCCTGACCCGCCCCTGCAGGTGGTGGCCGTGGTGATGGACATGTTCACTGATGTGGACCTGCTCAGCGAAGTGCTGGA (p.Ala294ProfsTer3) c.1181_1182insTCCGTCCTGACCCGCCCCTGCAGGTGGTGGCCGTGGTGATGGACATGTTCACTGATGTGGACCTGCTCAGCGAAGTGCTGGA (p.Ala395ProfsTer3) c.1028_1029insTCCGTCCTGACCCGCCCCTGCAGGTGGTGGCCGTGGTGATGGACATGTTCACTGATGTGGACCTGCTCAGCGAAGTGCTGGA (p.Ala344ProfsTer3)	gnomAD v4
8	g.143728600_143728601insTCCAGCACTTCGCTGAGCAGGTCCACATCAGTGAACATGTCCATCACCACGGCCACCACCTGCAGGGGCGGGTCAGGACGGAGAGGA	CA2688981345	FAM83H	c.860_861insTCCTCTCCGTCCTGACCCGCCCCTGCAGGTGGTGGCCGTGGTGATGGACATGTTCACTGATGTGGACCTGCTCAGCGAAGTGCTGGA (p.Ser287_Ala288insProLeuArgProAspProProLeuGlnValValAlaValValMetAspMetPheThrAspValAspLeuLeuSerGluValLeuGlu) c.1463_1464insTCCTCTCCGTCCTGACCCGCCCCTGCAGGTGGTGGCCGTGGTGATGGACATGTTCACTGATGTGGACCTGCTCAGCGAAGTGCTGGA (p.Ser488_Ala489insProLeuArgProAspProProLeuGlnValValAlaValValMetAspMetPheThrAspValAspLeuLeuSerGluValLeuGlu) c.40_41insTCCTCTCCGTCCTGACCCGCCCCTGCAGGTGGTGGCCGTGGTGATGGACATGTTCACTGATGTGGACCTGCTCAGCGAAGTGCTGGA c.917_918insTCCTCTCCGTCCTGACCCGCCCCTGCAGGTGGTGGCCGTGGTGATGGACATGTTCACTGATGTGGACCTGCTCAGCGAAGTGCTGGA (p.Ser306_Ala307insProLeuArgProAspProProLeuGlnValValAlaValValMetAspMetPheThrAspValAspLeuLeuSerGluValLeuGlu) c.878_879insTCCTCTCCGTCCTGACCCGCCCCTGCAGGTGGTGGCCGTGGTGATGGACATGTTCACTGATGTGGACCTGCTCAGCGAAGTGCTGGA (p.Ser293_Ala294insProLeuArgProAspProProLeuGlnValValAlaValValMetAspMetPheThrAspValAspLeuLeuSerGluValLeuGlu) c.1181_1182insTCCTCTCCGTCCTGACCCGCCCCTGCAGGTGGTGGCCGTGGTGATGGACATGTTCACTGATGTGGACCTGCTCAGCGAAGTGCTGGA (p.Ser394_Ala395insProLeuArgProAspProProLeuGlnValValAlaValValMetAspMetPheThrAspValAspLeuLeuSerGluValLeuGlu) c.1028_1029insTCCTCTCCGTCCTGACCCGCCCCTGCAGGTGGTGGCCGTGGTGATGGACATGTTCACTGATGTGGACCTGCTCAGCGAAGTGCTGGA (p.Ser343_Ala344insProLeuArgProAspProProLeuGlnValValAlaValValMetAspMetPheThrAspValAspLeuLeuSerGluValLeuGlu)	gnomAD v4
8	g.143728601G>A	CA4917573	FAM83H	c.860C>T (p.Ser287Leu) c.1463C>T (p.Ser488Leu) c.40C>T c.917C>T (p.Ser306Leu) c.878C>T (p.Ser293Leu) c.1181C>T (p.Ser394Leu) c.1028C>T (p.Ser343Leu)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8	g.143728601G>C	CA372469323	FAM83H	c.860C>G (p.Ser287Trp) c.1463C>G (p.Ser488Trp) c.40C>G c.917C>G (p.Ser306Trp) c.878C>G (p.Ser293Trp) c.1181C>G (p.Ser394Trp) c.1028C>G (p.Ser343Trp)	gnomAD v4
8	g.143728601G=	CA1825940871	FAM83H	c.860C= (p.Ser287=) c.1463C= (p.Ser488=) c.40C= c.917C= (p.Ser306=) c.878C= (p.Ser293=) c.1181C= (p.Ser394=) c.1028C= (p.Ser343=)
8	g.143728601G>T	CA114505	FAM83H	c.860C>A (p.Ser287Ter) c.1463C>A (p.Ser488Ter) c.40C>A c.917C>A (p.Ser306Ter) c.878C>A (p.Ser293Ter) c.1181C>A (p.Ser394Ter) c.1028C>A (p.Ser343Ter)	ClinVar dbSNP
8	g.143728601_143728602insCACTTCGCTGAGCAGGTCCACATCAGTGAACATGTCCATCACCACGGCCACCACCTGC	CA2688981352	FAM83H	c.859_860insGCAGGTGGTGGCCGTGGTGATGGACATGTTCACTGATGTGGACCTGCTCAGCGAAGTG (p.Ser287CysfsTer7) c.1462_1463insGCAGGTGGTGGCCGTGGTGATGGACATGTTCACTGATGTGGACCTGCTCAGCGAAGTG (p.Ser488CysfsTer7) c.39_40insGCAGGTGGTGGCCGTGGTGATGGACATGTTCACTGATGTGGACCTGCTCAGCGAAGTG c.916_917insGCAGGTGGTGGCCGTGGTGATGGACATGTTCACTGATGTGGACCTGCTCAGCGAAGTG (p.Ser306CysfsTer7) c.877_878insGCAGGTGGTGGCCGTGGTGATGGACATGTTCACTGATGTGGACCTGCTCAGCGAAGTG (p.Ser293CysfsTer7) c.1180_1181insGCAGGTGGTGGCCGTGGTGATGGACATGTTCACTGATGTGGACCTGCTCAGCGAAGTG (p.Ser394CysfsTer7) c.1027_1028insGCAGGTGGTGGCCGTGGTGATGGACATGTTCACTGATGTGGACCTGCTCAGCGAAGTG (p.Ser343CysfsTer7)	gnomAD v4
8	g.143728602A>C	CA372469326	FAM83H	c.859T>G (p.Ser287Ala) c.1462T>G (p.Ser488Ala) c.39T>G c.916T>G (p.Ser306Ala) c.877T>G (p.Ser293Ala) c.1180T>G (p.Ser394Ala) c.1027T>G (p.Ser343Ala)
8	g.143728602A>G	CA372469328	FAM83H	c.859T>C (p.Ser287Pro) c.1462T>C (p.Ser488Pro) c.39T>C c.916T>C (p.Ser306Pro) c.877T>C (p.Ser293Pro) c.1180T>C (p.Ser394Pro) c.1027T>C (p.Ser343Pro)	dbSNP
8	g.143728602A>T	CA372469329	FAM83H	c.859T>A (p.Ser287Thr) c.1462T>A (p.Ser488Thr) c.39T>A c.916T>A (p.Ser306Thr) c.877T>A (p.Ser293Thr) c.1180T>A (p.Ser394Thr) c.1027T>A (p.Ser343Thr)
8	g.143728603G>A	CA463519988	FAM83H	c.858C>T (p.Pro286=) c.1461C>T (p.Pro487=) c.38C>T c.915C>T (p.Pro305=) c.876C>T (p.Pro292=) c.1179C>T (p.Pro393=) c.1026C>T (p.Pro342=)
8	g.143728603G>C	CA463519985	FAM83H	c.858C>G (p.Pro286=) c.1461C>G (p.Pro487=) c.38C>G c.915C>G (p.Pro305=) c.876C>G (p.Pro292=) c.1179C>G (p.Pro393=) c.1026C>G (p.Pro342=)
8	g.143728603G>T	CA463519983	FAM83H	c.858C>A (p.Pro286=) c.1461C>A (p.Pro487=) c.38C>A c.915C>A (p.Pro305=) c.876C>A (p.Pro292=) c.1179C>A (p.Pro393=) c.1026C>A (p.Pro342=)
8	g.143728603_143728604insCAGGTCCACATCAGTGAACATGTCCATCACCACGGCCACCACCTGCAGGGGCG	CA2688981355	FAM83H	c.858_859insGCCCCTGCAGGTGGTGGCCGTGGTGATGGACATGTTCACTGATGTGGACCTGC (p.Ser287AlafsTer14) c.1461_1462insGCCCCTGCAGGTGGTGGCCGTGGTGATGGACATGTTCACTGATGTGGACCTGC (p.Ser488AlafsTer14) c.38_39insGCCCCTGCAGGTGGTGGCCGTGGTGATGGACATGTTCACTGATGTGGACCTGC c.915_916insGCCCCTGCAGGTGGTGGCCGTGGTGATGGACATGTTCACTGATGTGGACCTGC (p.Ser306AlafsTer14) c.876_877insGCCCCTGCAGGTGGTGGCCGTGGTGATGGACATGTTCACTGATGTGGACCTGC (p.Ser293AlafsTer14) c.1179_1180insGCCCCTGCAGGTGGTGGCCGTGGTGATGGACATGTTCACTGATGTGGACCTGC (p.Ser394AlafsTer14) c.1026_1027insGCCCCTGCAGGTGGTGGCCGTGGTGATGGACATGTTCACTGATGTGGACCTGC (p.Ser343AlafsTer14)	gnomAD v4
8	g.143728604G>A	CA4917575	FAM83H	c.857C>T (p.Pro286Leu) c.1460C>T (p.Pro487Leu) c.37C>T c.914C>T (p.Pro305Leu) c.875C>T (p.Pro292Leu) c.1178C>T (p.Pro393Leu) c.1025C>T (p.Pro342Leu)	dbSNP ExAC gnomAD v2 gnomAD v4
8	g.143728604G>C	CA4917574	FAM83H	c.857C>G (p.Pro286Arg) c.1460C>G (p.Pro487Arg) c.37C>G c.914C>G (p.Pro305Arg) c.875C>G (p.Pro292Arg) c.1178C>G (p.Pro393Arg) c.1025C>G (p.Pro342Arg)	dbSNP ExAC gnomAD v2 gnomAD v4
8	g.143728604G=	CA1825940872	FAM83H	c.857C= (p.Pro286=) c.1460C= (p.Pro487=) c.37C= c.914C= (p.Pro305=) c.875C= (p.Pro292=) c.1178C= (p.Pro393=) c.1025C= (p.Pro342=)
8	g.143728604G>T	CA372469332	FAM83H	c.857C>A (p.Pro286His) c.1460C>A (p.Pro487His) c.37C>A c.914C>A (p.Pro305His) c.875C>A (p.Pro292His) c.1178C>A (p.Pro393His) c.1025C>A (p.Pro342His)
8	g.143728605G>A	CA372469334	FAM83H	c.856C>T (p.Pro286Ser) c.1459C>T (p.Pro487Ser) c.36C>T c.913C>T (p.Pro305Ser) c.874C>T (p.Pro292Ser) c.1177C>T (p.Pro393Ser) c.1024C>T (p.Pro342Ser)	dbSNP gnomAD v3 gnomAD v4
8	g.143728605G>C	CA372469335	FAM83H	c.856C>G (p.Pro286Ala) c.1459C>G (p.Pro487Ala) c.36C>G c.913C>G (p.Pro305Ala) c.874C>G (p.Pro292Ala) c.1177C>G (p.Pro393Ala) c.1024C>G (p.Pro342Ala)
8	g.143728605G=	CA1825940873	FAM83H	c.856C= (p.Pro286=) c.1459C= (p.Pro487=) c.36C= c.913C= (p.Pro305=) c.874C= (p.Pro292=) c.1177C= (p.Pro393=) c.1024C= (p.Pro342=)
8	g.143728605G>T	CA4917576	FAM83H	c.856C>A (p.Pro286Thr) c.1459C>A (p.Pro487Thr) c.36C>A c.913C>A (p.Pro305Thr) c.874C>A (p.Pro292Thr) c.1177C>A (p.Pro393Thr) c.1024C>A (p.Pro342Thr)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8	g.143728606C>A	CA463520012	FAM83H	c.855G>T (p.Val285=) c.1458G>T (p.Val486=) c.35G>T c.912G>T (p.Val304=) c.873G>T (p.Val291=) c.1176G>T (p.Val392=) c.1023G>T (p.Val341=)
8	g.143728606C=	CA1825940874	FAM83H	c.855G= (p.Val285=) c.1458G= (p.Val486=) c.35G= c.912G= (p.Val304=) c.873G= (p.Val291=) c.1176G= (p.Val392=) c.1023G= (p.Val341=)
8	g.143728606C>G	CA463520009	FAM83H	c.855G>C (p.Val285=) c.1458G>C (p.Val486=) c.35G>C c.912G>C (p.Val304=) c.873G>C (p.Val291=) c.1176G>C (p.Val392=) c.1023G>C (p.Val341=)
8	g.143728606C>T	CA4917577	FAM83H	c.855G>A (p.Val285=) c.1458G>A (p.Val486=) c.35G>A c.912G>A (p.Val304=) c.873G>A (p.Val291=) c.1176G>A (p.Val392=) c.1023G>A (p.Val341=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8	g.143728607A>C	CA372469336	FAM83H	c.854T>G (p.Val285Gly) c.1457T>G (p.Val486Gly) c.34T>G c.911T>G (p.Val304Gly) c.872T>G (p.Val291Gly) c.1175T>G (p.Val392Gly) c.1022T>G (p.Val341Gly)	gnomAD v4
8	g.143728607A>G	CA372469339	FAM83H	c.854T>C (p.Val285Ala) c.1457T>C (p.Val486Ala) c.34T>C c.911T>C (p.Val304Ala) c.872T>C (p.Val291Ala) c.1175T>C (p.Val392Ala) c.1022T>C (p.Val341Ala)
8	g.143728607A>T	CA372469341	FAM83H	c.854T>A (p.Val285Glu) c.1457T>A (p.Val486Glu) c.34T>A c.911T>A (p.Val304Glu) c.872T>A (p.Val291Glu) c.1175T>A (p.Val392Glu) c.1022T>A (p.Val341Glu)

Number of alleles fetched