Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
11	g.47437918G>A	CA5976449	RAPSN	c.57C>T (n.57C>T) n.251C>T c.1381C>T (p.Arg461Cys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.47437918G>C	CA654208762	RAPSN	c.57C>G (n.57C>G) n.251C>G c.1381C>G (p.Arg461Gly)	COSMIC
11	g.47437918G=	CA1630848695	RAPSN	c.57C= (n.57C=) n.251C= c.1381C= (p.Arg461=)
11	g.47437918G>T	CA2581004868	RAPSN	c.57C>A (n.57C>A) n.251C>A c.1381C>A (p.Arg461Ser)	gnomAD v4
11	g.47437920G>A	CA2739360048	RAPSN	c.55C>T (n.55C>T) n.249C>T c.1379C>T (p.Ala460Val)
11	g.47437920G>C	CA2739360049	RAPSN	c.55C>G (n.55C>G) n.249C>G c.1379C>G (p.Ala460Gly)
11	g.47437920G>T	CA2739360050	RAPSN	c.55C>A (n.55C>A) n.249C>A c.1379C>A (p.Ala460Glu)
11	g.47437921C>A	CA2739360051	RAPSN	c.54G>T (n.54G>T) n.248G>T c.1378G>T (p.Ala460Ser)
11	g.47437921C=	CA1969385816	RAPSN	c.54G= (n.54G=) n.248G= c.1378G= (p.Ala460=)
11	g.47437921C>G	CA2613404550	RAPSN	c.54G>C (n.54G>C) n.248G>C c.1378G>C (p.Ala460Pro)	gnomAD v4
11	g.47437921C>T	CA677007147	RAPSN	c.54G>A (n.54G>A) n.248G>A c.1378G>A (p.Ala460Thr)	dbSNP gnomAD v3 gnomAD v4
11	g.47437922A=	CA1969385817	RAPSN	c.53T= (n.53T=) n.247T= c.1377T= (p.Thr459=)
11	g.47437922A>G	CA599073016	RAPSN	c.53T>C (n.53T>C) n.247T>C c.1377T>C (p.Thr459=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11	g.47437923G>A	CA2613404559	RAPSN	c.52C>T (n.52C>T) n.246C>T c.1376C>T (p.Thr459Ile)	gnomAD v4
11	g.47437923G>C	CA2739360052	RAPSN	c.52C>G (n.52C>G) n.246C>G c.1376C>G (p.Thr459Ser)
11	g.47437923G>T	CA2574817060	RAPSN	c.52C>A (n.52C>A) n.246C>A c.1376C>A (p.Thr459Asn)
11	g.47437924T>A	CA2739360053	RAPSN	c.51A>T (n.51A>T) n.245A>T c.1375A>T (p.Thr459Ser)
11	g.47437924T>C	CA2613404561	RAPSN	c.51A>G (n.51A>G) n.245A>G c.1375A>G (p.Thr459Ala)	gnomAD v4
11	g.47437924T>G	CA2739360054	RAPSN	c.51A>C (n.51A>C) n.245A>C c.1375A>C (p.Thr459Pro)
11	g.47437925G>A	CA599073017	RAPSN	c.50C>T (n.50C>T) n.244C>T c.1374C>T (p.Ser458=)	dbSNP gnomAD v2 gnomAD v4
11	g.47437925G=	CA1969385818	RAPSN	c.50C= (n.50C=) n.244C= c.1374C= (p.Ser458=)
11	g.47437926G>A	CA1969385820	RAPSN	c.49C>T (n.49C>T) n.243C>T c.1373C>T (p.Ser458Phe)	dbSNP
11	g.47437926G>C	CA2739360055	RAPSN	c.49C>G (n.49C>G) n.243C>G c.1373C>G (p.Ser458Cys)
11	g.47437926G=	CA1969385819	RAPSN	c.49C= (n.49C=) n.243C= c.1373C= (p.Ser458=)
11	g.47437926G>T	CA2613404573	RAPSN	c.49C>A (n.49C>A) n.243C>A c.1373C>A (p.Ser458Tyr)	gnomAD v4
11	g.47437927A=	CA1969385821	RAPSN	c.48T= (n.48T=) n.242T= c.1372T= (p.Ser458=)
11	g.47437927A>C	CA2739360056	RAPSN	c.48T>G (n.48T>G) n.242T>G c.1372T>G (p.Ser458Ala)
11	g.47437927A>G	CA1969385822	RAPSN	c.48T>C (n.48T>C) n.242T>C c.1372T>C (p.Ser458Pro)	dbSNP
11	g.47437927A>T	CA2739360057	RAPSN	c.48T>A (n.48T>A) n.242T>A c.1372T>A (p.Ser458Thr)
11	g.47437928G>A	CA2613404575	RAPSN	c.47C>T (n.47C>T) n.241C>T c.1371C>T (p.Phe457=)	gnomAD v4
11	g.47437928G>C	CA2739360058	RAPSN	c.47C>G (n.47C>G) n.241C>G c.1371C>G (p.Phe457Leu)
11	g.47437928G>T	CA2613404576	RAPSN	c.47C>A (n.47C>A) n.241C>A c.1371C>A (p.Phe457Leu)	gnomAD v4
11	g.47437928_47437929delinsGA	CA1969385823	RAPSN	c.46_47delinsTC (n.46_47delinsTC) n.240_241delinsTC c.1370_1371delinsTC (p.Phe457=)
11	g.47437929A>C	CA2739280614	RAPSN	c.46T>G (n.46T>G) n.240T>G c.1370T>G (p.Phe457Cys)
11	g.47437929A>G	CA2739360059	RAPSN	c.46T>C (n.46T>C) n.240T>C c.1370T>C (p.Phe457Ser)
11	g.47437929A>T	CA2739360060	RAPSN	c.46T>A (n.46T>A) n.240T>A c.1370T>A (p.Phe457Tyr)
11	g.47437931del	CA677007153	RAPSN	c.46del (n.46del) n.240del c.1370del (p.Phe457SerfsTer21)	dbSNP gnomAD v4
11	g.47437930A>C	CA2739360061	RAPSN	c.45T>G (n.45T>G) n.239T>G c.1369T>G (p.Phe457Val)
11	g.47437930A>G	CA2739360062	RAPSN	c.45T>C (n.45T>C) n.239T>C c.1369T>C (p.Phe457Leu)
11	g.47437930A>T	CA2739360063	RAPSN	c.45T>A (n.45T>A) n.239T>A c.1369T>A (p.Phe457Ile)
11	g.47437931A=	CA1969385824	RAPSN	c.44T= (n.44T=) n.238T= c.1368T= (p.Ser456=)
11	g.47437931A>G	CA1969385825	RAPSN	c.44T>C (n.44T>C) n.238T>C c.1368T>C (p.Ser456=)	dbSNP
11	g.47437932G>A	CA2739360064	RAPSN	c.43C>T (n.43C>T) n.237C>T c.1367C>T (p.Ser456Phe)
11	g.47437932G>C	CA2739360065	RAPSN	c.43C>G (n.43C>G) n.237C>G c.1367C>G (p.Ser456Cys)
11	g.47437932G>T	CA2739360066	RAPSN	c.43C>A (n.43C>A) n.237C>A c.1367C>A (p.Ser456Tyr)
11	g.47437933A>C	CA2739360067	RAPSN	c.42T>G (n.42T>G) n.236T>G c.1366T>G (p.Ser456Ala)
11	g.47437933A>G	CA2574817062	RAPSN	c.42T>C (n.42T>C) n.236T>C c.1366T>C (p.Ser456Pro)
11	g.47437933A>T	CA2739360068	RAPSN	c.42T>A (n.42T>A) n.236T>A c.1366T>A (p.Ser456Thr)
11	g.47437935_47437937del	CA2574817061	RAPSN	c.40_42del (n.40_42del) n.234_236del c.1364_1366del (p.Cys455del)	gnomAD v4
11	g.47437934G>C	CA2739360069	RAPSN	c.41C>G (n.41C>G) n.235C>G c.1365C>G (p.Cys455Trp)
11	g.47437934G>T	CA2613404582	RAPSN	c.41C>A (n.41C>A) n.235C>A c.1365C>A (p.Cys455Ter)	gnomAD v4
11	g.47437935C>A	CA2739360071	RAPSN	c.40G>T (n.40G>T) n.234G>T c.1364G>T (p.Cys455Phe)
11	g.47437935C=	CA1969385826	RAPSN	c.40G= (n.40G=) n.234G= c.1364G= (p.Cys455=)
11	g.47437935C>G	CA2739360070	RAPSN	c.40G>C (n.40G>C) n.234G>C c.1364G>C (p.Cys455Ser)
11	g.47437935C>T	CA599073018	RAPSN	c.40G>A (n.40G>A) n.234G>A c.1364G>A (p.Cys455Tyr)	dbSNP gnomAD v2 gnomAD v4
11	g.47437936A>C	CA2739360072	RAPSN	c.39T>G (n.39T>G) n.233T>G c.1363T>G (p.Cys455Gly)
11	g.47437936A>G	CA2739360073	RAPSN	c.39T>C (n.39T>C) n.233T>C c.1363T>C (p.Cys455Arg)
11	g.47437936A>T	CA2739360074	RAPSN	c.39T>A (n.39T>A) n.233T>A c.1363T>A (p.Cys455Ser)
11	g.47437938G>A	CA2739360075	RAPSN	c.37C>T (n.37C>T) n.231C>T c.1361C>T (p.Ser454Phe)
11	g.47437938G>C	CA2739360076	RAPSN	c.37C>G (n.37C>G) n.231C>G c.1361C>G (p.Ser454Cys)
11	g.47437938G>T	CA2613404589	RAPSN	c.37C>A (n.37C>A) n.231C>A c.1361C>A (p.Ser454Tyr)	gnomAD v4
11	g.47437939A=	CA1969385827	RAPSN	c.36T= (n.36T=) n.230T= c.1360T= (p.Ser454=)
11	g.47437939A>C	CA2739360077	RAPSN	c.36T>G (n.36T>G) n.230T>G c.1360T>G (p.Ser454Ala)
11	g.47437939A>G	CA5976450	RAPSN	c.36T>C (n.36T>C) n.230T>C c.1360T>C (p.Ser454Pro)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.47437939A>T	CA2739360078	RAPSN	c.36T>A (n.36T>A) n.230T>A c.1360T>A (p.Ser454Thr)
11	g.47437940G>A	CA221710716	RAPSN	c.35C>T (n.35C>T) n.229C>T c.1359C>T (p.His453=)	dbSNP gnomAD v3 gnomAD v4
11	g.47437940G>C	CA2739360079	RAPSN	c.35C>G (n.35C>G) n.229C>G c.1359C>G (p.His453Gln)
11	g.47437940G=	CA1969385828	RAPSN	c.35C= (n.35C=) n.229C= c.1359C= (p.His453=)
11	g.47437940G>T	CA2613404593	RAPSN	c.35C>A (n.35C>A) n.229C>A c.1359C>A (p.His453Gln)	gnomAD v4
11	g.47437941T>A	CA2739360080	RAPSN	c.34A>T (n.34A>T) n.228A>T c.1358A>T (p.His453Leu)
11	g.47437941T>C	CA2613404602	RAPSN	c.34A>G (n.34A>G) n.228A>G c.1358A>G (p.His453Arg)	gnomAD v4
11	g.47437941T>G	CA2613404601	RAPSN	c.34A>C (n.34A>C) n.228A>C c.1358A>C (p.His453Pro)	gnomAD v4
11	g.47437942G>A	CA937661760	RAPSN	c.33C>T (n.33C>T) n.227C>T c.1357C>T (p.His453Tyr)	dbSNP gnomAD v3 gnomAD v4
11	g.47437942G>C	CA2739360081	RAPSN	c.33C>G (n.33C>G) n.227C>G c.1357C>G (p.His453Asp)
11	g.47437942G=	CA1969385829	RAPSN	c.33C= (n.33C=) n.227C= c.1357C= (p.His453=)
11	g.47437942G>T	CA2739360082	RAPSN	c.33C>A (n.33C>A) n.227C>A c.1357C>A (p.His453Asn)
11	g.47437943G>T	CA2574817063	RAPSN	c.32C>A (n.32C>A) n.226C>A c.1356C>A (p.Arg452=)
11	g.47437944C>A	CA2574817064	RAPSN	c.31G>T (n.31G>T) n.225G>T c.1355G>T (p.Arg452Leu)	gnomAD v4
11	g.47437944C=	CA1969385830	RAPSN	c.31G= (n.31G=) n.225G= c.1355G= (p.Arg452=)
11	g.47437944C>G	CA2739360083	RAPSN	c.31G>C (n.31G>C) n.225G>C c.1355G>C (p.Arg452Pro)
11	g.47437944C>T	CA599073022	RAPSN	c.31G>A (n.31G>A) n.225G>A c.1355G>A (p.Arg452His)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11	g.47437945G>A	CA5976451	RAPSN	c.30C>T (n.30C>T) n.224C>T c.1354C>T (p.Arg452Cys)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.47437945G>C	CA2739360084	RAPSN	c.30C>G (n.30C>G) n.224C>G c.1354C>G (p.Arg452Gly)
11	g.47437945G=	CA1969385831	RAPSN	c.30C= (n.30C=) n.224C= c.1354C= (p.Arg452=)
11	g.47437945G>T	CA2613404605	RAPSN	c.30C>A (n.30C>A) n.224C>A c.1354C>A (p.Arg452Ser)	gnomAD v4
11	g.47437946_47437947delinsAG	CA1969385832	RAPSN	c.28_29delinsCT (n.28_29delinsCT) n.222_223delinsCT c.1352_1353delinsCT (p.Pro451=)
11	g.47437947G>A	CA2739360085	RAPSN	c.28C>T (n.28C>T) n.222C>T c.1352C>T (p.Pro451Leu)
11	g.47437947G>C	CA2739360086	RAPSN	c.28C>G (n.28C>G) n.222C>G c.1352C>G (p.Pro451Arg)
11	g.47437947G>T	CA2739360087	RAPSN	c.28C>A (n.28C>A) n.222C>A c.1352C>A (p.Pro451His)
11	g.47437948del	CA918872845	RAPSN	c.28del (n.28del) n.222del c.1352del (p.Pro451LeufsTer27)	dbSNP
11	g.47437948G>A	CA2574817065	RAPSN	c.27C>T (n.27C>T) n.221C>T c.1351C>T (p.Pro451Ser)
11	g.47437948G>C	CA2739360088	RAPSN	c.27C>G (n.27C>G) n.221C>G c.1351C>G (p.Pro451Ala)
11	g.47437948G>T	CA2739360089	RAPSN	c.27C>A (n.27C>A) n.221C>A c.1351C>A (p.Pro451Thr)
11	g.47437949del	CA2613404608	RAPSN	c.26del (n.26del) n.220del c.1350del (p.Pro451LeufsTer27)	gnomAD v4
11	g.47437950G>A	CA2739360090	RAPSN	c.25C>T (n.25C>T) n.219C>T c.1349C>T (p.Pro450Leu)
11	g.47437950G>C	CA2739360091	RAPSN	c.25C>G (n.25C>G) n.219C>G c.1349C>G (p.Pro450Arg)
11	g.47437950G>T	CA2613404613	RAPSN	c.25C>A (n.25C>A) n.219C>A c.1349C>A (p.Pro450His)	gnomAD v4
11	g.47437951G>A	CA2613404614	RAPSN	c.24C>T (n.24C>T) n.218C>T c.1348C>T (p.Pro450Ser)	gnomAD v4
11	g.47437951G>C	CA2739360092	RAPSN	c.24C>G (n.24C>G) n.218C>G c.1348C>G (p.Pro450Ala)
11	g.47437951G>T	CA2739360093	RAPSN	c.24C>A (n.24C>A) n.218C>A c.1348C>A (p.Pro450Thr)
11	g.47437953A>C	CA2739360094	RAPSN	c.22T>G (n.22T>G) n.216T>G c.1346T>G (p.Leu449Arg)
11	g.47437953A>G	CA2739360095	RAPSN	c.22T>C (n.22T>C) n.216T>C c.1346T>C (p.Leu449Pro)
11	g.47437953A>T	CA2739360096	RAPSN	c.22T>A (n.22T>A) n.216T>A c.1346T>A (p.Leu449His)
11	g.47437954G>A	CA599073023	RAPSN	c.21C>T (n.21C>T) n.215C>T c.1345C>T (p.Leu449Phe)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11	g.47437954G>C	CA677007166	RAPSN	c.21C>G (n.21C>G) n.215C>G c.1345C>G (p.Leu449Val)	dbSNP gnomAD v3 gnomAD v4
11	g.47437954G=	CA1969385833	RAPSN	c.21C= (n.21C=) n.215C= c.1345C= (p.Leu449=)
11	g.47437954G>T	CA599073025	RAPSN	c.21C>A (n.21C>A) n.215C>A c.1345C>A (p.Leu449Ile)	dbSNP gnomAD v2 gnomAD v4
11	g.47437955C=	CA1969385834	RAPSN	c.20G= (n.20G=) n.214G= c.1344G= (p.Gly448=)
11	g.47437955C>T	CA599073027	RAPSN	c.20G>A (n.20G>A) n.214G>A c.1344G>A (p.Gly448=)	dbSNP gnomAD v2
11	g.47437956C>A	CA2613404625	RAPSN	c.19G>T (n.19G>T) n.213G>T c.1343G>T (p.Gly448Val)	gnomAD v4
11	g.47437956C>G	CA2739360097	RAPSN	c.19G>C (n.19G>C) n.213G>C c.1343G>C (p.Gly448Ala)
11	g.47437956C>T	CA2739360098	RAPSN	c.19G>A (n.19G>A) n.213G>A c.1343G>A (p.Gly448Glu)
11	g.47437957C>A	CA2613404626	RAPSN	c.18G>T (n.18G>T) n.212G>T c.1342G>T (p.Gly448Trp)	gnomAD v4
11	g.47437957C>G	CA2739360099	RAPSN	c.18G>C (n.18G>C) n.212G>C c.1342G>C (p.Gly448Arg)
11	g.47437957C>T	CA2613404629	RAPSN	c.18G>A (n.18G>A) n.212G>A c.1342G>A (p.Gly448Arg)	gnomAD v4
11	g.47437958A=	CA1969385835	RAPSN	c.17T= (n.17T=) n.211T= c.1341T= (p.Arg447=)
11	g.47437958A>C	CA1969385836	RAPSN	c.17T>G (n.17T>G) n.211T>G c.1341T>G (p.Arg447=)	dbSNP
11	g.47437959C>A	CA2739360100	RAPSN	c.16G>T (n.16G>T) n.210G>T c.1340G>T (p.Arg447Leu)
11	g.47437959C=	CA1969385837	RAPSN	c.16G= (n.16G=) n.210G= c.1340G= (p.Arg447=)
11	g.47437959C>G	CA2739360101	RAPSN	c.16G>C (n.16G>C) n.210G>C c.1340G>C (p.Arg447Pro)
11	g.47437959C>T	CA10639354	RAPSN	c.16G>A (n.16G>A) n.210G>A c.1340G>A (p.Arg447His)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11	g.47437960G>A	CA221710725	RAPSN	c.15C>T (n.15C>T) n.209C>T c.1339C>T (p.Arg447Cys)	dbSNP gnomAD v2 gnomAD v4
11	g.47437960G>C	CA2562272907	RAPSN	c.15C>G (n.15C>G) n.209C>G c.1339C>G (p.Arg447Gly)	gnomAD v4
11	g.47437960G=	CA1969385838	RAPSN	c.15C= (n.15C=) n.209C= c.1339C= (p.Arg447=)
11	g.47437960G>T	CA2739360102	RAPSN	c.15C>A (n.15C>A) n.209C>A c.1339C>A (p.Arg447Ser)
11	g.47437961C>A	CA2739360103	RAPSN	c.14G>T (n.14G>T) n.208G>T c.1338G>T (p.Arg446Ser)
11	g.47437961C>G	CA2739360104	RAPSN	c.14G>C (n.14G>C) n.208G>C c.1338G>C (p.Arg446Ser)
11	g.47437961C>T	CA2613404638	RAPSN	c.14G>A (n.14G>A) n.208G>A c.1338G>A (p.Arg446=)	gnomAD v4
11	g.47437962C>A	CA2613404673	RAPSN	c.13G>T (n.13G>T) n.207G>T c.1337G>T (p.Arg446Met)	gnomAD v4
11	g.47437962C=	CA1969385839	RAPSN	c.13G= (n.13G=) n.207G= c.1337G= (p.Arg446=)
11	g.47437962C>G	CA2739360105	RAPSN	c.13G>C (n.13G>C) n.207G>C c.1337G>C (p.Arg446Thr)
11	g.47437962C>T	CA599073031	RAPSN	c.13G>A (n.13G>A) n.207G>A c.1337G>A (p.Arg446Lys)	dbSNP gnomAD v2 gnomAD v4
11	g.47437963T>A	CA2739360106	RAPSN	c.12A>T (n.12A>T) n.206A>T c.1336A>T (p.Arg446Trp)
11	g.47437963T>C	CA2739360107	RAPSN	c.12A>G (n.12A>G) n.206A>G c.1336A>G (p.Arg446Gly)
11	g.47437963_47437964insCGTCTCTACAGGACCCTCTGATCG	CA2791335992	RAPSN	c.11_12insCGATCAGAGGGTCCTGTAGAGACG (n.11_12insCGATCAGAGGGTCCTGTAGAGACG) n.205_206insCGATCAGAGGGTCCTGTAGAGACG c.1335_1336insCGATCAGAGGGTCCTGTAGAGACG (p.Ser445_Arg446insArgSerGluGlyProValGluThr)
11	g.47437964G>A	CA2613404680	RAPSN	c.11C>T (n.11C>T) n.205C>T c.1335C>T (p.Ser445=)	gnomAD v4
11	g.47437964G>C	CA2613404681	RAPSN	c.11C>G (n.11C>G) n.205C>G c.1335C>G (p.Ser445Arg)	gnomAD v4
11	g.47437964G>T	CA2739360108	RAPSN	c.11C>A (n.11C>A) n.205C>A c.1335C>A (p.Ser445Arg)
11	g.47437965C>A	CA2739360109	RAPSN	c.10G>T (n.10G>T) n.204G>T c.1334G>T (p.Ser445Ile)
11	g.47437965C=	CA1969385840	RAPSN	c.10G= (n.10G=) n.204G= c.1334G= (p.Ser445=)
11	g.47437965C>G	CA2739360110	RAPSN	c.10G>C (n.10G>C) n.204G>C c.1334G>C (p.Ser445Thr)
11	g.47437965C>T	CA599073032	RAPSN	c.10G>A (n.10G>A) n.204G>A c.1334G>A (p.Ser445Asn)	dbSNP gnomAD v2
11	g.47437966T>A	CA2739360111	RAPSN	c.9A>T (n.9A>T) n.203A>T c.1333A>T (p.Ser445Cys)
11	g.47437966T>C	CA2613404683	RAPSN	c.9A>G (n.9A>G) n.203A>G c.1333A>G (p.Ser445Gly)	gnomAD v4
11	g.47437966T>G	CA2739360112	RAPSN	c.9A>C (n.9A>C) n.203A>C c.1333A>C (p.Ser445Arg)
11	g.47437966_47437967insACGTCACCGCGTGTCCCGCGCACCTACCTCACCCCGACGTCGCACCCGACGACGGCGAAGTCCAGCGCCTGTACGTTCTGCGCG	CA2791335993	RAPSN	c.8_9insCGCGCAGAACGTACAGGCGCTGGACTTCGCCGTCGTCGGGTGCGACGTCGGGGTGAGGTAGGTGCGCGGGACACGCGGTGACGT (n.8_9insCGCGCAGAACGTACAGGCGCTGGACTTCGCCGTCGTCGGGTGCGACGTCGGGGTGAGGTAGGTGCGCGGGACACGCGGTGACGT) n.202_203insCGCGCAGAACGTACAGGCGCTGGACTTCGCCGTCGTCGGGTGCGACGTCGGGGTGAGGTAGGTGCGCGGGACACGCGGTGACGT c.1332_1333insCGCGCAGAACGTACAGGCGCTGGACTTCGCCGTCGTCGGGTGCGACGTCGGGGTGAGGTAGGTGCGCGGGACACGCGGTGACGT
11	g.47437967G>A	CA2791335994	RAPSN	c.8C>T (n.8C>T) n.202C>T c.1332C>T (p.Gly444=)
11	g.47437968C>A	CA2739360113	RAPSN	c.7G>T (n.7G>T) n.201G>T c.1331G>T (p.Gly444Val)
11	g.47437968C>G	CA2739360114	RAPSN	c.7G>C (n.7G>C) n.201G>C c.1331G>C (p.Gly444Ala)
11	g.47437968C>T	CA2739360115	RAPSN	c.7G>A (n.7G>A) n.201G>A c.1331G>A (p.Gly444Asp)
11	g.47437969C>A	CA2739360116	RAPSN	c.6G>T (n.6G>T) n.200G>T c.1330G>T (p.Gly444Cys)
11	g.47437969C>G	CA2739360117	RAPSN	c.6G>C (n.6G>C) n.200G>C c.1330G>C (p.Gly444Arg)
11	g.47437969C>T	CA2739360118	RAPSN	c.6G>A (n.6G>A) n.200G>A c.1330G>A (p.Gly444Ser)
11	g.47437970A>C	CA2538215749	RAPSN	c.5T>G (n.5T>G) n.199T>G c.1329T>G (p.Pro443=)
11	g.47437971G>A	CA2739360119	RAPSN	c.4C>T (n.4C>T) n.198C>T c.1328C>T (p.Pro443Leu)
11	g.47437971G>C	CA2739360121	RAPSN	c.4C>G (n.4C>G) n.198C>G c.1328C>G (p.Pro443Arg)
11	g.47437971G>T	CA2739360120	RAPSN	c.4C>A (n.4C>A) n.198C>A c.1328C>A (p.Pro443His)
11	g.47437972G>A	CA599073033	RAPSN	c.3C>T (n.3C>T) n.197C>T c.1327C>T (p.Pro443Ser)	dbSNP gnomAD v2 gnomAD v4
11	g.47437972G>C	CA2739360122	RAPSN	c.3C>G (n.3C>G) n.197C>G c.1327C>G (p.Pro443Ala)
11	g.47437972G=	CA1969385841	RAPSN	c.3C= (n.3C=) n.197C= c.1327C= (p.Pro443=)
11	g.47437972G>T	CA2613404685	RAPSN	c.3C>A (n.3C>A) n.197C>A c.1327C>A (p.Pro443Thr)	gnomAD v4
11	g.47437973A=	CA1969385842	RAPSN	c.2T= (n.2T=) n.196T= c.1326T= (p.Thr442=)
11	g.47437973A>G	CA599073036	RAPSN	c.2T>C (n.2T>C) n.196T>C c.1326T>C (p.Thr442=)	dbSNP gnomAD v2 gnomAD v4
11	g.47437974G>A	CA2613404688	RAPSN	c.1C>T (n.1C>T) n.195C>T c.1325C>T (p.Thr442Ile)	gnomAD v4
11	g.47437974G>C	CA2739360123	RAPSN	c.1C>G (n.1C>G) n.195C>G c.1325C>G (p.Thr442Ser)
11	g.47437974G>T	CA2739360124	RAPSN	c.1C>A (n.1C>A) n.195C>A c.1325C>A (p.Thr442Asn)
11	g.47437975T>A	CA380325330	RAPSN	c.1239A>T (p.Ter413Cys) c.1062A>T (p.Ter354Cys) c.1080A>T (p.Ter360Cys) n.194A>T c.1185A>T (p.Ter395Cys) c.1116A>T (p.Ter372Cys) c.1324A>T (p.Thr442Ser) c.1263A>T (p.Ter421Cys)
11	g.47437975T>C	CA380325331	RAPSN	c.1239A>G (p.Ter413Trp) c.1062A>G (p.Ter354Trp) c.1080A>G (p.Ter360Trp) n.194A>G c.1185A>G (p.Ter395Trp) c.1116A>G (p.Ter372Trp) c.1324A>G (p.Thr442Ala) c.1263A>G (p.Ter421Trp)
11	g.47437975T>G	CA380325332	RAPSN	c.1239A>C (p.Ter413Cys) c.1062A>C (p.Ter354Cys) c.1080A>C (p.Ter360Cys) n.194A>C c.1185A>C (p.Ter395Cys) c.1116A>C (p.Ter372Cys) c.1324A>C (p.Thr442Pro) c.1263A>C (p.Ter421Cys)
11	g.47437976C>A	CA380325336	RAPSN	c.1238G>T (p.Ter413Leu) c.1061G>T (p.Ter354Leu) c.1079G>T (p.Ter360Leu) n.193G>T c.1184G>T (p.Ter395Leu) c.1115G>T (p.Ter372Leu) c.1323G>T (p.Met441Ile) c.1262G>T (p.Ter421Leu)
11	g.47437976C>G	CA380325335	RAPSN	c.1238G>C (p.Ter413Ser) c.1061G>C (p.Ter354Ser) c.1079G>C (p.Ter360Ser) n.193G>C c.1184G>C (p.Ter395Ser) c.1115G>C (p.Ter372Ser) c.1323G>C (p.Met441Ile) c.1262G>C (p.Ter421Ser)
11	g.47437976C>T	CA474217150	RAPSN	c.1238G>A (p.Ter413=) c.1061G>A (p.Ter354=) c.1079G>A (p.Ter360=) n.193G>A c.1184G>A (p.Ter395=) c.1115G>A (p.Ter372=) c.1323G>A (p.Met441Ile) c.1262G>A (p.Ter421=)
11	g.47437977A>C	CA380325338	RAPSN	c.1237T>G (p.Ter413Gly) c.1060T>G (p.Ter354Gly) c.1078T>G (p.Ter360Gly) n.192T>G c.1183T>G (p.Ter395Gly) c.1114T>G (p.Ter372Gly) c.1322T>G (p.Met441Arg) c.1261T>G (p.Ter421Gly)
11	g.47437977A>G	CA380325340	RAPSN	c.1237T>C (p.Ter413Arg) c.1060T>C (p.Ter354Arg) c.1078T>C (p.Ter360Arg) n.192T>C c.1183T>C (p.Ter395Arg) c.1114T>C (p.Ter372Arg) c.1322T>C (p.Met441Thr) c.1261T>C (p.Ter421Arg)
11	g.47437977A>T	CA380325342	RAPSN	c.1237T>A (p.Ter413Arg) c.1060T>A (p.Ter354Arg) c.1078T>A (p.Ter360Arg) n.192T>A c.1183T>A (p.Ter395Arg) c.1114T>A (p.Ter372Arg) c.1322T>A (p.Met441Lys) c.1261T>A (p.Ter421Arg)
11	g.47437978T>A	CA474217156	RAPSN	c.1236A>T (p.Val412=) c.1059A>T (p.Val353=) c.1077A>T (p.Val359=) n.191A>T c.1182A>T (p.Val394=) c.1113A>T (p.Val371=) c.1321A>T (p.Met441Leu) c.1260A>T (p.Val420=)
11	g.47437978T>C	CA474217157	RAPSN	c.1236A>G (p.Val412=) c.1059A>G (p.Val353=) c.1077A>G (p.Val359=) n.191A>G c.1182A>G (p.Val394=) c.1113A>G (p.Val371=) c.1321A>G (p.Met441Val) c.1260A>G (p.Val420=)	ClinVar gnomAD v4
11	g.47437978T>G	CA474217160	RAPSN	c.1236A>C (p.Val412=) c.1059A>C (p.Val353=) c.1077A>C (p.Val359=) n.191A>C c.1182A>C (p.Val394=) c.1113A>C (p.Val371=) c.1321A>C (p.Met441Leu) c.1260A>C (p.Val420=)
11	g.47437979A>C	CA380325344	RAPSN	c.1235T>G (p.Val412Gly) c.1058T>G (p.Val353Gly) c.1076T>G (p.Val359Gly) n.190T>G c.1181T>G (p.Val394Gly) c.1112T>G (p.Val371Gly) c.1320T>G (p.Cys440Trp) c.1259T>G (p.Val420Gly)
11	g.47437979A>G	CA380325346	RAPSN	c.1235T>C (p.Val412Ala) c.1058T>C (p.Val353Ala) c.1076T>C (p.Val359Ala) n.190T>C c.1181T>C (p.Val394Ala) c.1112T>C (p.Val371Ala) c.1320T>C (p.Cys440=) c.1259T>C (p.Val420Ala)
11	g.47437979A>T	CA380325348	RAPSN	c.1235T>A (p.Val412Glu) c.1058T>A (p.Val353Glu) c.1076T>A (p.Val359Glu) n.190T>A c.1181T>A (p.Val394Glu) c.1112T>A (p.Val371Glu) c.1320T>A (p.Cys440Ter) c.1259T>A (p.Val420Glu)
11	g.47437980C>A	CA380325350	RAPSN	c.1234G>T (p.Val412Leu) c.1057G>T (p.Val353Leu) c.1075G>T (p.Val359Leu) n.189G>T c.1180G>T (p.Val394Leu) c.1111G>T (p.Val371Leu) c.1319G>T (p.Cys440Phe) c.1258G>T (p.Val420Leu)	COSMIC
11	g.47437980C>G	CA380325356	RAPSN	c.1234G>C (p.Val412Leu) c.1057G>C (p.Val353Leu) c.1075G>C (p.Val359Leu) n.189G>C c.1180G>C (p.Val394Leu) c.1111G>C (p.Val371Leu) c.1319G>C (p.Cys440Ser) c.1258G>C (p.Val420Leu)
11	g.47437980C>T	CA380325352	RAPSN	c.1234G>A (p.Val412Ile) c.1057G>A (p.Val353Ile) c.1075G>A (p.Val359Ile) n.189G>A c.1180G>A (p.Val394Ile) c.1111G>A (p.Val371Ile) c.1319G>A (p.Cys440Tyr) c.1258G>A (p.Val420Ile)
11	g.47437981A>C	CA380325358	RAPSN	c.1233T>G (p.Phe411Leu) c.1056T>G (p.Phe352Leu) c.1074T>G (p.Phe358Leu) n.188T>G c.1179T>G (p.Phe393Leu) c.1110T>G (p.Phe370Leu) c.1318T>G (p.Cys440Gly) c.1257T>G (p.Phe419Leu)
11	g.47437981A>G	CA474217162	RAPSN	c.1233T>C (p.Phe411=) c.1056T>C (p.Phe352=) c.1074T>C (p.Phe358=) n.188T>C c.1179T>C (p.Phe393=) c.1110T>C (p.Phe370=) c.1318T>C (p.Cys440Arg) c.1257T>C (p.Phe419=)
11	g.47437981A>T	CA380325360	RAPSN	c.1233T>A (p.Phe411Leu) c.1056T>A (p.Phe352Leu) c.1074T>A (p.Phe358Leu) n.188T>A c.1179T>A (p.Phe393Leu) c.1110T>A (p.Phe370Leu) c.1318T>A (p.Cys440Ser) c.1257T>A (p.Phe419Leu)
11	g.47437982A>C	CA380325362	RAPSN	c.1232T>G (p.Phe411Cys) c.1055T>G (p.Phe352Cys) c.1073T>G (p.Phe358Cys) n.187T>G c.1178T>G (p.Phe393Cys) c.1109T>G (p.Phe370Cys) c.1317T>G (p.Leu439=) c.1256T>G (p.Phe419Cys)
11	g.47437982A>G	CA380325363	RAPSN	c.1232T>C (p.Phe411Ser) c.1055T>C (p.Phe352Ser) c.1073T>C (p.Phe358Ser) n.187T>C c.1178T>C (p.Phe393Ser) c.1109T>C (p.Phe370Ser) c.1317T>C (p.Leu439=) c.1256T>C (p.Phe419Ser)
11	g.47437982A>T	CA380325365	RAPSN	c.1232T>A (p.Phe411Tyr) c.1055T>A (p.Phe352Tyr) c.1073T>A (p.Phe358Tyr) n.187T>A c.1178T>A (p.Phe393Tyr) c.1109T>A (p.Phe370Tyr) c.1317T>A (p.Leu439=) c.1256T>A (p.Phe419Tyr)
11	g.47437983A=	CA1969385843	RAPSN	c.1231T= (p.Phe411=) c.1054T= (p.Phe352=) c.1072T= (p.Phe358=) n.186T= c.1177T= (p.Phe393=) c.1108T= (p.Phe370=) c.1316T= (p.Leu439=) c.1255T= (p.Phe419=)
11	g.47437983A>C	CA380325367	RAPSN	c.1231T>G (p.Phe411Val) c.1054T>G (p.Phe352Val) c.1072T>G (p.Phe358Val) n.186T>G c.1177T>G (p.Phe393Val) c.1108T>G (p.Phe370Val) c.1316T>G (p.Leu439Arg) c.1255T>G (p.Phe419Val)
11	g.47437983A>G	CA380325370	RAPSN	c.1231T>C (p.Phe411Leu) c.1054T>C (p.Phe352Leu) c.1072T>C (p.Phe358Leu) n.186T>C c.1177T>C (p.Phe393Leu) c.1108T>C (p.Phe370Leu) c.1316T>C (p.Leu439Pro) c.1255T>C (p.Phe419Leu)
11	g.47437983A>T	CA380325371	RAPSN	c.1231T>A (p.Phe411Ile) c.1054T>A (p.Phe352Ile) c.1072T>A (p.Phe358Ile) n.186T>A c.1177T>A (p.Phe393Ile) c.1108T>A (p.Phe370Ile) c.1316T>A (p.Leu439His) c.1255T>A (p.Phe419Ile)	dbSNP gnomAD v4
11	g.47437984G>A	CA474217164	RAPSN	c.1230C>T (p.Gly410=) c.1053C>T (p.Gly351=) c.1071C>T (p.Gly357=) n.185C>T c.1176C>T (p.Gly392=) c.1107C>T (p.Gly369=) c.1315C>T (p.Leu439Phe) c.1254C>T (p.Gly418=)	dbSNP gnomAD v2 gnomAD v4
11	g.47437984G>C	CA474217165	RAPSN	c.1230C>G (p.Gly410=) c.1053C>G (p.Gly351=) c.1071C>G (p.Gly357=) n.185C>G c.1176C>G (p.Gly392=) c.1107C>G (p.Gly369=) c.1315C>G (p.Leu439Val) c.1254C>G (p.Gly418=)	gnomAD v4
11	g.47437984G=	CA1969385844	RAPSN	c.1230C= (p.Gly410=) c.1053C= (p.Gly351=) c.1071C= (p.Gly357=) n.185C= c.1176C= (p.Gly392=) c.1107C= (p.Gly369=) c.1315C= (p.Leu439=) c.1254C= (p.Gly418=)
11	g.47437984G>T	CA474217168	RAPSN	c.1230C>A (p.Gly410=) c.1053C>A (p.Gly351=) c.1071C>A (p.Gly357=) n.185C>A c.1176C>A (p.Gly392=) c.1107C>A (p.Gly369=) c.1315C>A (p.Leu439Ile) c.1254C>A (p.Gly418=)
11	g.47437985C>A	CA380325373	RAPSN	c.1229G>T (p.Gly410Val) c.1052G>T (p.Gly351Val) c.1070G>T (p.Gly357Val) n.184G>T c.1175G>T (p.Gly392Val) c.1106G>T (p.Gly369Val) c.1314G>T (p.Trp438Cys) c.1253G>T (p.Gly418Val)	gnomAD v4
11	g.47437985C>G	CA380325375	RAPSN	c.1229G>C (p.Gly410Ala) c.1052G>C (p.Gly351Ala) c.1070G>C (p.Gly357Ala) n.184G>C c.1175G>C (p.Gly392Ala) c.1106G>C (p.Gly369Ala) c.1314G>C (p.Trp438Cys) c.1253G>C (p.Gly418Ala)
11	g.47437985C>T	CA380325377	RAPSN	c.1229G>A (p.Gly410Asp) c.1052G>A (p.Gly351Asp) c.1070G>A (p.Gly357Asp) n.184G>A c.1175G>A (p.Gly392Asp) c.1106G>A (p.Gly369Asp) c.1314G>A (p.Trp438Ter) c.1253G>A (p.Gly418Asp)
11	g.47437986C>A	CA380325379	RAPSN	c.1228G>T (p.Gly410Cys) c.1051G>T (p.Gly351Cys) c.1069G>T (p.Gly357Cys) n.183G>T c.1174G>T (p.Gly392Cys) c.1105G>T (p.Gly369Cys) c.1313G>T (p.Trp438Leu) c.1252G>T (p.Gly418Cys)	gnomAD v4
11	g.47437986C>G	CA380325382	RAPSN	c.1228G>C (p.Gly410Arg) c.1051G>C (p.Gly351Arg) c.1069G>C (p.Gly357Arg) n.183G>C c.1174G>C (p.Gly392Arg) c.1105G>C (p.Gly369Arg) c.1313G>C (p.Trp438Ser) c.1252G>C (p.Gly418Arg)
11	g.47437986C>T	CA380325380	RAPSN	c.1228G>A (p.Gly410Ser) c.1051G>A (p.Gly351Ser) c.1069G>A (p.Gly357Ser) n.183G>A c.1174G>A (p.Gly392Ser) c.1105G>A (p.Gly369Ser) c.1313G>A (p.Trp438Ter) c.1252G>A (p.Gly418Ser)
11	g.47437987A>C	CA474217175	RAPSN	c.1227T>G (p.Pro409=) c.1050T>G (p.Pro350=) c.1068T>G (p.Pro356=) n.182T>G c.1173T>G (p.Pro391=) c.1104T>G (p.Pro368=) c.1312T>G (p.Trp438Gly) c.1251T>G (p.Pro417=)	gnomAD v4
11	g.47437987A>G	CA474217177	RAPSN	c.1227T>C (p.Pro409=) c.1050T>C (p.Pro350=) c.1068T>C (p.Pro356=) n.182T>C c.1173T>C (p.Pro391=) c.1104T>C (p.Pro368=) c.1312T>C (p.Trp438Arg) c.1251T>C (p.Pro417=)
11	g.47437987A>T	CA474217179	RAPSN	c.1227T>A (p.Pro409=) c.1050T>A (p.Pro350=) c.1068T>A (p.Pro356=) n.182T>A c.1173T>A (p.Pro391=) c.1104T>A (p.Pro368=) c.1312T>A (p.Trp438Arg) c.1251T>A (p.Pro417=)
11	g.47437988G>A	CA380325384	RAPSN	c.1226C>T (p.Pro409Leu) c.1049C>T (p.Pro350Leu) c.1067C>T (p.Pro356Leu) n.181C>T c.1172C>T (p.Pro391Leu) c.1103C>T (p.Pro368Leu) c.1311C>T (p.Ala437=) c.1250C>T (p.Pro417Leu)
11	g.47437988G>C	CA380325386	RAPSN	c.1226C>G (p.Pro409Arg) c.1049C>G (p.Pro350Arg) c.1067C>G (p.Pro356Arg) n.181C>G c.1172C>G (p.Pro391Arg) c.1103C>G (p.Pro368Arg) c.1311C>G (p.Ala437=) c.1250C>G (p.Pro417Arg)
11	g.47437988G>T	CA380325387	RAPSN	c.1226C>A (p.Pro409His) c.1049C>A (p.Pro350His) c.1067C>A (p.Pro356His) n.181C>A c.1172C>A (p.Pro391His) c.1103C>A (p.Pro368His) c.1311C>A (p.Ala437=) c.1250C>A (p.Pro417His)	gnomAD v4
11	g.47437989G>A	CA380325390	RAPSN	c.1225C>T (p.Pro409Ser) c.1048C>T (p.Pro350Ser) c.1066C>T (p.Pro356Ser) n.180C>T c.1171C>T (p.Pro391Ser) c.1102C>T (p.Pro368Ser) c.1310C>T (p.Ala437Val) c.1249C>T (p.Pro417Ser)	gnomAD v4
11	g.47437989G>C	CA380325391	RAPSN	c.1225C>G (p.Pro409Ala) c.1048C>G (p.Pro350Ala) c.1066C>G (p.Pro356Ala) n.180C>G c.1171C>G (p.Pro391Ala) c.1102C>G (p.Pro368Ala) c.1310C>G (p.Ala437Gly) c.1249C>G (p.Pro417Ala)
11	g.47437989G>T	CA380325393	RAPSN	c.1225C>A (p.Pro409Thr) c.1048C>A (p.Pro350Thr) c.1066C>A (p.Pro356Thr) n.180C>A c.1171C>A (p.Pro391Thr) c.1102C>A (p.Pro368Thr) c.1310C>A (p.Ala437Asp) c.1249C>A (p.Pro417Thr)
11	g.47437990C>A	CA380325396	RAPSN	c.1224G>T (p.Lys408Asn) c.1047G>T (p.Lys349Asn) c.1065G>T (p.Lys355Asn) n.179G>T c.1170G>T (p.Lys390Asn) c.1101G>T (p.Lys367Asn) c.1309G>T (p.Ala437Ser) c.1248G>T (p.Lys416Asn)	dbSNP gnomAD v2 gnomAD v4
11	g.47437990C=	CA1969385845	RAPSN	c.1224G= (p.Lys408=) c.1047G= (p.Lys349=) c.1065G= (p.Lys355=) n.179G= c.1170G= (p.Lys390=) c.1101G= (p.Lys367=) c.1309G= (p.Ala437=) c.1248G= (p.Lys416=)
11	g.47437990C>G	CA380325397	RAPSN	c.1224G>C (p.Lys408Asn) c.1047G>C (p.Lys349Asn) c.1065G>C (p.Lys355Asn) n.179G>C c.1170G>C (p.Lys390Asn) c.1101G>C (p.Lys367Asn) c.1309G>C (p.Ala437Pro) c.1248G>C (p.Lys416Asn)
11	g.47437990C>T	CA474217182	RAPSN	c.1224G>A (p.Lys408=) c.1047G>A (p.Lys349=) c.1065G>A (p.Lys355=) n.179G>A c.1170G>A (p.Lys390=) c.1101G>A (p.Lys367=) c.1309G>A (p.Ala437Thr) c.1248G>A (p.Lys416=)
11	g.47437991T>A	CA380325400	RAPSN	c.1223A>T (p.Lys408Met) c.1046A>T (p.Lys349Met) c.1064A>T (p.Lys355Met) n.178A>T c.1169A>T (p.Lys390Met) c.1100A>T (p.Lys367Met) c.1308A>T (p.Glu436Asp) c.1247A>T (p.Lys416Met)
11	g.47437991T>C	CA380325403	RAPSN	c.1223A>G (p.Lys408Arg) c.1046A>G (p.Lys349Arg) c.1064A>G (p.Lys355Arg) n.178A>G c.1169A>G (p.Lys390Arg) c.1100A>G (p.Lys367Arg) c.1308A>G (p.Glu436=) c.1247A>G (p.Lys416Arg)
11	g.47437991T>G	CA380325406	RAPSN	c.1223A>C (p.Lys408Thr) c.1046A>C (p.Lys349Thr) c.1064A>C (p.Lys355Thr) n.178A>C c.1169A>C (p.Lys390Thr) c.1100A>C (p.Lys367Thr) c.1308A>C (p.Glu436Asp) c.1247A>C (p.Lys416Thr)
11	g.47437992T>A	CA380325413	RAPSN	c.1222A>T (p.Lys408Ter) c.1045A>T (p.Lys349Ter) c.1063A>T (p.Lys355Ter) n.177A>T c.1168A>T (p.Lys390Ter) c.1099A>T (p.Lys367Ter) c.1307A>T (p.Glu436Val) c.1246A>T (p.Lys416Ter)
11	g.47437992T>C	CA380325411	RAPSN	c.1222A>G (p.Lys408Glu) c.1045A>G (p.Lys349Glu) c.1063A>G (p.Lys355Glu) n.177A>G c.1168A>G (p.Lys390Glu) c.1099A>G (p.Lys367Glu) c.1307A>G (p.Glu436Gly) c.1246A>G (p.Lys416Glu)
11	g.47437992T>G	CA380325408	RAPSN	c.1222A>C (p.Lys408Gln) c.1045A>C (p.Lys349Gln) c.1063A>C (p.Lys355Gln) n.177A>C c.1168A>C (p.Lys390Gln) c.1099A>C (p.Lys367Gln) c.1307A>C (p.Glu436Ala) c.1246A>C (p.Lys416Gln)
11	g.47437993C>A	CA380325417	RAPSN	c.1221G>T (p.Met407Ile) c.1044G>T (p.Met348Ile) c.1062G>T (p.Met354Ile) n.176G>T c.1167G>T (p.Met389Ile) c.1098G>T (p.Met366Ile) c.1306G>T (p.Glu436Ter) c.1245G>T (p.Met415Ile)	gnomAD v4
11	g.47437993C=	CA1969385846	RAPSN	c.1221G= (p.Met407=) c.1044G= (p.Met348=) c.1062G= (p.Met354=) n.176G= c.1167G= (p.Met389=) c.1098G= (p.Met366=) c.1306G= (p.Glu436=) c.1245G= (p.Met415=)
11	g.47437993C>G	CA380325419	RAPSN	c.1221G>C (p.Met407Ile) c.1044G>C (p.Met348Ile) c.1062G>C (p.Met354Ile) n.176G>C c.1167G>C (p.Met389Ile) c.1098G>C (p.Met366Ile) c.1306G>C (p.Glu436Gln) c.1245G>C (p.Met415Ile)
11	g.47437993C>T	CA380325421	RAPSN	c.1221G>A (p.Met407Ile) c.1044G>A (p.Met348Ile) c.1062G>A (p.Met354Ile) n.176G>A c.1167G>A (p.Met389Ile) c.1098G>A (p.Met366Ile) c.1306G>A (p.Glu436Lys) c.1245G>A (p.Met415Ile)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11	g.47437994A=	CA1969385847	RAPSN	c.1220T= (p.Met407=) c.1043T= (p.Met348=) c.1061T= (p.Met354=) n.175T= c.1166T= (p.Met389=) c.1097T= (p.Met366=) c.1305T= (p.His435=) c.1244T= (p.Met415=)
11	g.47437994A>C	CA380325423	RAPSN	c.1220T>G (p.Met407Arg) c.1043T>G (p.Met348Arg) c.1061T>G (p.Met354Arg) n.175T>G c.1166T>G (p.Met389Arg) c.1097T>G (p.Met366Arg) c.1305T>G (p.His435Gln) c.1244T>G (p.Met415Arg)	dbSNP gnomAD v4
11	g.47437994A>G	CA380325425	RAPSN	c.1220T>C (p.Met407Thr) c.1043T>C (p.Met348Thr) c.1061T>C (p.Met354Thr) n.175T>C c.1166T>C (p.Met389Thr) c.1097T>C (p.Met366Thr) c.1305T>C (p.His435=) c.1244T>C (p.Met415Thr)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11	g.47437994A>T	CA380325428	RAPSN	c.1220T>A (p.Met407Lys) c.1043T>A (p.Met348Lys) c.1061T>A (p.Met354Lys) n.175T>A c.1166T>A (p.Met389Lys) c.1097T>A (p.Met366Lys) c.1305T>A (p.His435Gln) c.1244T>A (p.Met415Lys)
11	g.47437995T>A	CA380325431	RAPSN	c.1219A>T (p.Met407Leu) c.1042A>T (p.Met348Leu) c.1060A>T (p.Met354Leu) n.174A>T c.1165A>T (p.Met389Leu) c.1096A>T (p.Met366Leu) c.1304A>T (p.His435Leu) c.1243A>T (p.Met415Leu)
11	g.47437995T>C	CA380325433	RAPSN	c.1219A>G (p.Met407Val) c.1042A>G (p.Met348Val) c.1060A>G (p.Met354Val) n.174A>G c.1165A>G (p.Met389Val) c.1096A>G (p.Met366Val) c.1304A>G (p.His435Arg) c.1243A>G (p.Met415Val)
11	g.47437995T>G	CA380325436	RAPSN	c.1219A>C (p.Met407Leu) c.1042A>C (p.Met348Leu) c.1060A>C (p.Met354Leu) n.174A>C c.1165A>C (p.Met389Leu) c.1096A>C (p.Met366Leu) c.1304A>C (p.His435Pro) c.1243A>C (p.Met415Leu)
11	g.47437996G>A	CA221710728	RAPSN	c.1218C>T (p.Ser406=) c.1041C>T (p.Ser347=) c.1059C>T (p.Ser353=) n.173C>T c.1164C>T (p.Ser388=) c.1095C>T (p.Ser365=) c.1303C>T (p.His435Tyr) c.1242C>T (p.Ser414=)	ClinVar dbSNP gnomAD v2 gnomAD v4
11	g.47437996G>C	CA474217199	RAPSN	c.1218C>G (p.Ser406=) c.1041C>G (p.Ser347=) c.1059C>G (p.Ser353=) n.173C>G c.1164C>G (p.Ser388=) c.1095C>G (p.Ser365=) c.1303C>G (p.His435Asp) c.1242C>G (p.Ser414=)
11	g.47437996G=	CA1969385848	RAPSN	c.1218C= (p.Ser406=) c.1041C= (p.Ser347=) c.1059C= (p.Ser353=) n.173C= c.1164C= (p.Ser388=) c.1095C= (p.Ser365=) c.1303C= (p.His435=) c.1242C= (p.Ser414=)
11	g.47437996G>T	CA474217201	RAPSN	c.1218C>A (p.Ser406=) c.1041C>A (p.Ser347=) c.1059C>A (p.Ser353=) n.173C>A c.1164C>A (p.Ser388=) c.1095C>A (p.Ser365=) c.1303C>A (p.His435Asn) c.1242C>A (p.Ser414=)	dbSNP gnomAD v2 gnomAD v4
11	g.47437997G>A	CA380325439	RAPSN	c.1217C>T (p.Ser406Phe) c.1040C>T (p.Ser347Phe) c.1058C>T (p.Ser353Phe) n.172C>T c.1163C>T (p.Ser388Phe) c.1094C>T (p.Ser365Phe) c.1302C>T (p.Ile434=) c.1241C>T (p.Ser414Phe)	dbSNP gnomAD v2 gnomAD v4
11	g.47437997G>C	CA380325441	RAPSN	c.1217C>G (p.Ser406Cys) c.1040C>G (p.Ser347Cys) c.1058C>G (p.Ser353Cys) n.172C>G c.1163C>G (p.Ser388Cys) c.1094C>G (p.Ser365Cys) c.1302C>G (p.Ile434Met) c.1241C>G (p.Ser414Cys)	gnomAD v4
11	g.47437997G=	CA1969385849	RAPSN	c.1217C= (p.Ser406=) c.1040C= (p.Ser347=) c.1058C= (p.Ser353=) n.172C= c.1163C= (p.Ser388=) c.1094C= (p.Ser365=) c.1302C= (p.Ile434=) c.1241C= (p.Ser414=)
11	g.47437997G>T	CA380325449	RAPSN	c.1217C>A (p.Ser406Tyr) c.1040C>A (p.Ser347Tyr) c.1058C>A (p.Ser353Tyr) n.172C>A c.1163C>A (p.Ser388Tyr) c.1094C>A (p.Ser365Tyr) c.1302C>A (p.Ile434=) c.1241C>A (p.Ser414Tyr)	gnomAD v4
11	g.47437998A=	CA1969385850	RAPSN	c.1216T= (p.Ser406=) c.1039T= (p.Ser347=) c.1057T= (p.Ser353=) n.171T= c.1162T= (p.Ser388=) c.1093T= (p.Ser365=) c.1301T= (p.Ile434=) c.1240T= (p.Ser414=)
11	g.47437998A>C	CA380325458	RAPSN	c.1216T>G (p.Ser406Ala) c.1039T>G (p.Ser347Ala) c.1057T>G (p.Ser353Ala) n.171T>G c.1162T>G (p.Ser388Ala) c.1093T>G (p.Ser365Ala) c.1301T>G (p.Ile434Ser) c.1240T>G (p.Ser414Ala)
11	g.47437998A>G	CA380325460	RAPSN	c.1216T>C (p.Ser406Pro) c.1039T>C (p.Ser347Pro) c.1057T>C (p.Ser353Pro) n.171T>C c.1162T>C (p.Ser388Pro) c.1093T>C (p.Ser365Pro) c.1301T>C (p.Ile434Thr) c.1240T>C (p.Ser414Pro)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11	g.47437998A>T	CA380325455	RAPSN	c.1216T>A (p.Ser406Thr) c.1039T>A (p.Ser347Thr) c.1057T>A (p.Ser353Thr) n.171T>A c.1162T>A (p.Ser388Thr) c.1093T>A (p.Ser365Thr) c.1301T>A (p.Ile434Asn) c.1240T>A (p.Ser414Thr)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11	g.47437999T>A	CA474217210	RAPSN	c.1215A>T (p.Ser405=) c.1038A>T (p.Ser346=) c.1056A>T (p.Ser352=) n.170A>T c.1161A>T (p.Ser387=) c.1092A>T (p.Ser364=) c.1300A>T (p.Ile434Phe) c.1239A>T (p.Ser413=)
11	g.47437999T>C	CA474217211	RAPSN	c.1215A>G (p.Ser405=) c.1038A>G (p.Ser346=) c.1056A>G (p.Ser352=) n.170A>G c.1161A>G (p.Ser387=) c.1092A>G (p.Ser364=) c.1300A>G (p.Ile434Val) c.1239A>G (p.Ser413=)	gnomAD v4
11	g.47437999T>G	CA474217212	RAPSN	c.1215A>C (p.Ser405=) c.1038A>C (p.Ser346=) c.1056A>C (p.Ser352=) n.170A>C c.1161A>C (p.Ser387=) c.1092A>C (p.Ser364=) c.1300A>C (p.Ile434Leu) c.1239A>C (p.Ser413=)	gnomAD v4
11	g.47438000G>A	CA380325470	RAPSN	c.1214C>T (p.Ser405Leu) c.1037C>T (p.Ser346Leu) c.1055C>T (p.Ser352Leu) n.169C>T c.1160C>T (p.Ser387Leu) c.1091C>T (p.Ser364Leu) c.1299C>T (p.Leu433=) c.1238C>T (p.Ser413Leu)	dbSNP gnomAD v4
11	g.47438000G>C	CA380325469	RAPSN	c.1214C>G (p.Ser405Ter) c.1037C>G (p.Ser346Ter) c.1055C>G (p.Ser352Ter) n.169C>G c.1160C>G (p.Ser387Ter) c.1091C>G (p.Ser364Ter) c.1299C>G (p.Leu433=) c.1238C>G (p.Ser413Ter)	gnomAD v4
11	g.47438000G=	CA1969385851	RAPSN	c.1214C= (p.Ser405=) c.1037C= (p.Ser346=) c.1055C= (p.Ser352=) n.169C= c.1160C= (p.Ser387=) c.1091C= (p.Ser364=) c.1299C= (p.Leu433=) c.1238C= (p.Ser413=)
11	g.47438000G>T	CA380325474	RAPSN	c.1214C>A (p.Ser405Ter) c.1037C>A (p.Ser346Ter) c.1055C>A (p.Ser352Ter) n.169C>A c.1160C>A (p.Ser387Ter) c.1091C>A (p.Ser364Ter) c.1299C>A (p.Leu433=) c.1238C>A (p.Ser413Ter)
11	g.47438001A>C	CA380325476	RAPSN	c.1213T>G (p.Ser405Ala) c.1036T>G (p.Ser346Ala) c.1054T>G (p.Ser352Ala) n.168T>G c.1159T>G (p.Ser387Ala) c.1090T>G (p.Ser364Ala) c.1298T>G (p.Leu433Arg) c.1237T>G (p.Ser413Ala)
11	g.47438001A>G	CA380325478	RAPSN	c.1213T>C (p.Ser405Pro) c.1036T>C (p.Ser346Pro) c.1054T>C (p.Ser352Pro) n.168T>C c.1159T>C (p.Ser387Pro) c.1090T>C (p.Ser364Pro) c.1298T>C (p.Leu433Pro) c.1237T>C (p.Ser413Pro)	gnomAD v4
11	g.47438001A>T	CA380325481	RAPSN	c.1213T>A (p.Ser405Thr) c.1036T>A (p.Ser346Thr) c.1054T>A (p.Ser352Thr) n.168T>A c.1159T>A (p.Ser387Thr) c.1090T>A (p.Ser364Thr) c.1298T>A (p.Leu433His) c.1237T>A (p.Ser413Thr)	gnomAD v4
11	g.47438002G>A	CA474217213	RAPSN	c.1212C>T (p.Arg404=) c.1035C>T (p.Arg345=) c.1053C>T (p.Arg351=) n.167C>T c.1158C>T (p.Arg386=) c.1089C>T (p.Arg363=) c.1297C>T (p.Leu433Phe) c.1236C>T (p.Arg412=)	ClinVar dbSNP gnomAD v3 gnomAD v4
11	g.47438002G>C	CA474217214	RAPSN	c.1212C>G (p.Arg404=) c.1035C>G (p.Arg345=) c.1053C>G (p.Arg351=) n.167C>G c.1158C>G (p.Arg386=) c.1089C>G (p.Arg363=) c.1297C>G (p.Leu433Val) c.1236C>G (p.Arg412=)
11	g.47438002G=	CA1969385852	RAPSN	c.1212C= (p.Arg404=) c.1035C= (p.Arg345=) c.1053C= (p.Arg351=) n.167C= c.1158C= (p.Arg386=) c.1089C= (p.Arg363=) c.1297C= (p.Leu433=) c.1236C= (p.Arg412=)
11	g.47438002G>T	CA474217215	RAPSN	c.1212C>A (p.Arg404=) c.1035C>A (p.Arg345=) c.1053C>A (p.Arg351=) n.167C>A c.1158C>A (p.Arg386=) c.1089C>A (p.Arg363=) c.1297C>A (p.Leu433Ile) c.1236C>A (p.Arg412=)
11	g.47438003C>A	CA380325485	RAPSN	c.1211G>T (p.Arg404Leu) c.1034G>T (p.Arg345Leu) c.1052G>T (p.Arg351Leu) n.166G>T c.1157G>T (p.Arg386Leu) c.1088G>T (p.Arg363Leu) c.1296G>T (p.Pro432=) c.1235G>T (p.Arg412Leu)	gnomAD v4 COSMIC
11	g.47438003C=	CA1969385853	RAPSN	c.1211G= (p.Arg404=) c.1034G= (p.Arg345=) c.1052G= (p.Arg351=) n.166G= c.1157G= (p.Arg386=) c.1088G= (p.Arg363=) c.1296G= (p.Pro432=) c.1235G= (p.Arg412=)
11	g.47438003C>G	CA221710732	RAPSN	c.1211G>C (p.Arg404Pro) c.1034G>C (p.Arg345Pro) c.1052G>C (p.Arg351Pro) n.166G>C c.1157G>C (p.Arg386Pro) c.1088G>C (p.Arg363Pro) c.1296G>C (p.Pro432=) c.1235G>C (p.Arg412Pro)	dbSNP gnomAD v3 gnomAD v4
11	g.47438003C>T	CA5976452	RAPSN	c.1211G>A (p.Arg404His) c.1034G>A (p.Arg345His) c.1052G>A (p.Arg351His) n.166G>A c.1157G>A (p.Arg386His) c.1088G>A (p.Arg363His) c.1296G>A (p.Pro432=) c.1235G>A (p.Arg412His)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.47438004G>A	CA5976453	RAPSN	c.1210C>T (p.Arg404Cys) c.1033C>T (p.Arg345Cys) c.1051C>T (p.Arg351Cys) n.165C>T c.1156C>T (p.Arg386Cys) c.1087C>T (p.Arg363Cys) c.1295C>T (p.Pro432Leu) c.1234C>T (p.Arg412Cys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.47438004G>C	CA380325501	RAPSN	c.1210C>G (p.Arg404Gly) c.1033C>G (p.Arg345Gly) c.1051C>G (p.Arg351Gly) n.165C>G c.1156C>G (p.Arg386Gly) c.1087C>G (p.Arg363Gly) c.1295C>G (p.Pro432Arg) c.1234C>G (p.Arg412Gly)
11	g.47438004G=	CA1969385854	RAPSN	c.1210C= (p.Arg404=) c.1033C= (p.Arg345=) c.1051C= (p.Arg351=) n.165C= c.1156C= (p.Arg386=) c.1087C= (p.Arg363=) c.1295C= (p.Pro432=) c.1234C= (p.Arg412=)
11	g.47438004G>T	CA380325507	RAPSN	c.1210C>A (p.Arg404Ser) c.1033C>A (p.Arg345Ser) c.1051C>A (p.Arg351Ser) n.165C>A c.1156C>A (p.Arg386Ser) c.1087C>A (p.Arg363Ser) c.1295C>A (p.Pro432Gln) c.1234C>A (p.Arg412Ser)	gnomAD v4
11	g.47438005G>A	CA474217217	RAPSN	c.1209C>T (p.Arg403=) c.1032C>T (p.Arg344=) c.1050C>T (p.Arg350=) n.164C>T c.1155C>T (p.Arg385=) c.1086C>T (p.Arg362=) c.1294C>T (p.Pro432Ser) c.1233C>T (p.Arg411=)	gnomAD v4
11	g.47438005G>C	CA221710743	RAPSN	c.1209C>G (p.Arg403=) c.1032C>G (p.Arg344=) c.1050C>G (p.Arg350=) n.164C>G c.1155C>G (p.Arg385=) c.1086C>G (p.Arg362=) c.1294C>G (p.Pro432Ala) c.1233C>G (p.Arg411=)	dbSNP
11	g.47438005G=	CA1969385855	RAPSN	c.1209C= (p.Arg403=) c.1032C= (p.Arg344=) c.1050C= (p.Arg350=) n.164C= c.1155C= (p.Arg385=) c.1086C= (p.Arg362=) c.1294C= (p.Pro432=) c.1233C= (p.Arg411=)
11	g.47438005G>T	CA474217218	RAPSN	c.1209C>A (p.Arg403=) c.1032C>A (p.Arg344=) c.1050C>A (p.Arg350=) n.164C>A c.1155C>A (p.Arg385=) c.1086C>A (p.Arg362=) c.1294C>A (p.Pro432Thr) c.1233C>A (p.Arg411=)
11	g.47438006C>A	CA380325509	RAPSN	c.1208G>T (p.Arg403Leu) c.1031G>T (p.Arg344Leu) c.1049G>T (p.Arg350Leu) n.163G>T c.1154G>T (p.Arg385Leu) c.1085G>T (p.Arg362Leu) c.1293G>T (p.Pro431=) c.1232G>T (p.Arg411Leu)	dbSNP gnomAD v2 gnomAD v4
11	g.47438006C=	CA1969385856	RAPSN	c.1208G= (p.Arg403=) c.1031G= (p.Arg344=) c.1049G= (p.Arg350=) n.163G= c.1154G= (p.Arg385=) c.1085G= (p.Arg362=) c.1293G= (p.Pro431=) c.1232G= (p.Arg411=)
11	g.47438006C>G	CA380325511	RAPSN	c.1208G>C (p.Arg403Pro) c.1031G>C (p.Arg344Pro) c.1049G>C (p.Arg350Pro) n.163G>C c.1154G>C (p.Arg385Pro) c.1085G>C (p.Arg362Pro) c.1293G>C (p.Pro431=) c.1232G>C (p.Arg411Pro)
11	g.47438006C>T	CA380325521	RAPSN	c.1208G>A (p.Arg403His) c.1031G>A (p.Arg344His) c.1049G>A (p.Arg350His) n.163G>A c.1154G>A (p.Arg385His) c.1085G>A (p.Arg362His) c.1293G>A (p.Pro431=) c.1232G>A (p.Arg411His)	ClinVar dbSNP gnomAD v2 gnomAD v4
11	g.47438007G>A	CA380325529	RAPSN	c.1207C>T (p.Arg403Cys) c.1030C>T (p.Arg344Cys) c.1048C>T (p.Arg350Cys) n.162C>T c.1153C>T (p.Arg385Cys) c.1084C>T (p.Arg362Cys) c.1292C>T (p.Pro431Leu) c.1231C>T (p.Arg411Cys)	ClinVar dbSNP gnomAD v2 gnomAD v4
11	g.47438007G>C	CA380325524	RAPSN	c.1207C>G (p.Arg403Gly) c.1030C>G (p.Arg344Gly) c.1048C>G (p.Arg350Gly) n.162C>G c.1153C>G (p.Arg385Gly) c.1084C>G (p.Arg362Gly) c.1292C>G (p.Pro431Arg) c.1231C>G (p.Arg411Gly)
11	g.47438007G=	CA1969385857	RAPSN	c.1207C= (p.Arg403=) c.1030C= (p.Arg344=) c.1048C= (p.Arg350=) n.162C= c.1153C= (p.Arg385=) c.1084C= (p.Arg362=) c.1292C= (p.Pro431=) c.1231C= (p.Arg411=)
11	g.47438007G>T	CA380325527	RAPSN	c.1207C>A (p.Arg403Ser) c.1030C>A (p.Arg344Ser) c.1048C>A (p.Arg350Ser) n.162C>A c.1153C>A (p.Arg385Ser) c.1084C>A (p.Arg362Ser) c.1292C>A (p.Pro431Gln) c.1231C>A (p.Arg411Ser)
11	g.47438008del	CA2695201129	RAPSN	c.1207del (p.Arg403AlafsTer5) c.1030del (p.Arg344AlafsTer5) c.1048del (p.Arg350AlafsTer5) n.162del c.1153del (p.Arg385AlafsTer5) c.1084del (p.Arg362AlafsTer5) c.1292del (p.Pro431ArgfsTer11) c.1231del (p.Arg411AlafsTer5)	ClinVar
11	g.47438008G>A	CA474217233	RAPSN	c.1206C>T (p.Cys402=) c.1029C>T (p.Cys343=) c.1047C>T (p.Cys349=) n.161C>T c.1152C>T (p.Cys384=) c.1083C>T (p.Cys361=) c.1291C>T (p.Pro431Ser) c.1230C>T (p.Cys410=)	gnomAD v4
11	g.47438008G>C	CA380325531	RAPSN	c.1206C>G (p.Cys402Trp) c.1029C>G (p.Cys343Trp) c.1047C>G (p.Cys349Trp) n.161C>G c.1152C>G (p.Cys384Trp) c.1083C>G (p.Cys361Trp) c.1291C>G (p.Pro431Ala) c.1230C>G (p.Cys410Trp)
11	g.47438008G>T	CA380325533	RAPSN	c.1206C>A (p.Cys402Ter) c.1029C>A (p.Cys343Ter) c.1047C>A (p.Cys349Ter) n.161C>A c.1152C>A (p.Cys384Ter) c.1083C>A (p.Cys361Ter) c.1291C>A (p.Pro431Thr) c.1230C>A (p.Cys410Ter)
11	g.47438009C>A	CA380325536	RAPSN	c.1205G>T (p.Cys402Phe) c.1028G>T (p.Cys343Phe) c.1046G>T (p.Cys349Phe) n.160G>T c.1151G>T (p.Cys384Phe) c.1082G>T (p.Cys361Phe) c.1290G>T (p.Leu430=) c.1229G>T (p.Cys410Phe)	gnomAD v4
11	g.47438009C>G	CA380325539	RAPSN	c.1205G>C (p.Cys402Ser) c.1028G>C (p.Cys343Ser) c.1046G>C (p.Cys349Ser) n.160G>C c.1151G>C (p.Cys384Ser) c.1082G>C (p.Cys361Ser) c.1290G>C (p.Leu430=) c.1229G>C (p.Cys410Ser)
11	g.47438009C>T	CA380325542	RAPSN	c.1205G>A (p.Cys402Tyr) c.1028G>A (p.Cys343Tyr) c.1046G>A (p.Cys349Tyr) n.160G>A c.1151G>A (p.Cys384Tyr) c.1082G>A (p.Cys361Tyr) c.1290G>A (p.Leu430=) c.1229G>A (p.Cys410Tyr)
11	g.47438010A=	CA1969385858	RAPSN	c.1204T= (p.Cys402=) c.1027T= (p.Cys343=) c.1045T= (p.Cys349=) n.159T= c.1150T= (p.Cys384=) c.1081T= (p.Cys361=) c.1289T= (p.Leu430=) c.1228T= (p.Cys410=)
11	g.47438010A>C	CA380325546	RAPSN	c.1204T>G (p.Cys402Gly) c.1027T>G (p.Cys343Gly) c.1045T>G (p.Cys349Gly) n.159T>G c.1150T>G (p.Cys384Gly) c.1081T>G (p.Cys361Gly) c.1289T>G (p.Leu430Arg) c.1228T>G (p.Cys410Gly)
11	g.47438010A>G	CA380325549	RAPSN	c.1204T>C (p.Cys402Arg) c.1027T>C (p.Cys343Arg) c.1045T>C (p.Cys349Arg) n.159T>C c.1150T>C (p.Cys384Arg) c.1081T>C (p.Cys361Arg) c.1289T>C (p.Leu430Pro) c.1228T>C (p.Cys410Arg)	dbSNP gnomAD v4
11	g.47438010A>T	CA380325552	RAPSN	c.1204T>A (p.Cys402Ser) c.1027T>A (p.Cys343Ser) c.1045T>A (p.Cys349Ser) n.159T>A c.1150T>A (p.Cys384Ser) c.1081T>A (p.Cys361Ser) c.1289T>A (p.Leu430Gln) c.1228T>A (p.Cys410Ser)
11	g.47438011G>A	CA10605108	RAPSN	c.1203C>T (p.Asn401=) c.1026C>T (p.Asn342=) c.1044C>T (p.Asn348=) n.158C>T c.1149C>T (p.Asn383=) c.1080C>T (p.Asn360=) c.1288C>T (p.Leu430=) c.1227C>T (p.Asn409=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11	g.47438011G>C	CA380325558	RAPSN	c.1203C>G (p.Asn401Lys) c.1026C>G (p.Asn342Lys) c.1044C>G (p.Asn348Lys) n.158C>G c.1149C>G (p.Asn383Lys) c.1080C>G (p.Asn360Lys) c.1288C>G (p.Leu430Val) c.1227C>G (p.Asn409Lys)
11	g.47438011G=	CA1969385859	RAPSN	c.1203C= (p.Asn401=) c.1026C= (p.Asn342=) c.1044C= (p.Asn348=) n.158C= c.1149C= (p.Asn383=) c.1080C= (p.Asn360=) c.1288C= (p.Leu430=) c.1227C= (p.Asn409=)
11	g.47438011G>T	CA380325561	RAPSN	c.1203C>A (p.Asn401Lys) c.1026C>A (p.Asn342Lys) c.1044C>A (p.Asn348Lys) n.158C>A c.1149C>A (p.Asn383Lys) c.1080C>A (p.Asn360Lys) c.1288C>A (p.Leu430Met) c.1227C>A (p.Asn409Lys)	dbSNP gnomAD v4
11	g.47438012T>A	CA380325570	RAPSN	c.1202A>T (p.Asn401Ile) c.1025A>T (p.Asn342Ile) c.1043A>T (p.Asn348Ile) n.157A>T c.1148A>T (p.Asn383Ile) c.1079A>T (p.Asn360Ile) c.1287A>T (p.Gln429His) c.1226A>T (p.Asn409Ile)
11	g.47438012T>C	CA221710749	RAPSN	c.1202A>G (p.Asn401Ser) c.1025A>G (p.Asn342Ser) c.1043A>G (p.Asn348Ser) n.157A>G c.1148A>G (p.Asn383Ser) c.1079A>G (p.Asn360Ser) c.1287A>G (p.Gln429=) c.1226A>G (p.Asn409Ser)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11	g.47438012T>G	CA380325564	RAPSN	c.1202A>C (p.Asn401Thr) c.1025A>C (p.Asn342Thr) c.1043A>C (p.Asn348Thr) n.157A>C c.1148A>C (p.Asn383Thr) c.1079A>C (p.Asn360Thr) c.1287A>C (p.Gln429His) c.1226A>C (p.Asn409Thr)
11	g.47438012T=	CA1969385860	RAPSN	c.1202A= (p.Asn401=) c.1025A= (p.Asn342=) c.1043A= (p.Asn348=) n.157A= c.1148A= (p.Asn383=) c.1079A= (p.Asn360=) c.1287A= (p.Gln429=) c.1226A= (p.Asn409=)
11	g.47438013T>A	CA380325571	RAPSN	c.1201A>T (p.Asn401Tyr) c.1024A>T (p.Asn342Tyr) c.1042A>T (p.Asn348Tyr) n.156A>T c.1147A>T (p.Asn383Tyr) c.1078A>T (p.Asn360Tyr) c.1286A>T (p.Gln429Leu) c.1225A>T (p.Asn409Tyr)
11	g.47438013T>C	CA380325574	RAPSN	c.1201A>G (p.Asn401Asp) c.1024A>G (p.Asn342Asp) c.1042A>G (p.Asn348Asp) n.156A>G c.1147A>G (p.Asn383Asp) c.1078A>G (p.Asn360Asp) c.1286A>G (p.Gln429Arg) c.1225A>G (p.Asn409Asp)
11	g.47438013T>G	CA380325578	RAPSN	c.1201A>C (p.Asn401His) c.1024A>C (p.Asn342His) c.1042A>C (p.Asn348His) n.156A>C c.1147A>C (p.Asn383His) c.1078A>C (p.Asn360His) c.1286A>C (p.Gln429Pro) c.1225A>C (p.Asn409His)
11	g.47438014G>A	CA474217254	RAPSN	c.1200C>T (p.Pro400=) c.1023C>T (p.Pro341=) c.1041C>T (p.Pro347=) n.155C>T c.1146C>T (p.Pro382=) c.1077C>T (p.Pro359=) c.1285C>T (p.Gln429Ter) c.1224C>T (p.Pro408=)	gnomAD v4
11	g.47438014G>C	CA474217258	RAPSN	c.1200C>G (p.Pro400=) c.1023C>G (p.Pro341=) c.1041C>G (p.Pro347=) n.155C>G c.1146C>G (p.Pro382=) c.1077C>G (p.Pro359=) c.1285C>G (p.Gln429Glu) c.1224C>G (p.Pro408=)
11	g.47438014G>T	CA474217256	RAPSN	c.1200C>A (p.Pro400=) c.1023C>A (p.Pro341=) c.1041C>A (p.Pro347=) n.155C>A c.1146C>A (p.Pro382=) c.1077C>A (p.Pro359=) c.1285C>A (p.Gln429Lys) c.1224C>A (p.Pro408=)	gnomAD v4
11	g.47438015G>A	CA380325580	RAPSN	c.1199C>T (p.Pro400Leu) c.1022C>T (p.Pro341Leu) c.1040C>T (p.Pro347Leu) n.154C>T c.1145C>T (p.Pro382Leu) c.1076C>T (p.Pro359Leu) c.1284C>T (p.Ser428=) c.1223C>T (p.Pro408Leu)	gnomAD v4
11	g.47438015G>C	CA380325581	RAPSN	c.1199C>G (p.Pro400Arg) c.1022C>G (p.Pro341Arg) c.1040C>G (p.Pro347Arg) n.154C>G c.1145C>G (p.Pro382Arg) c.1076C>G (p.Pro359Arg) c.1284C>G (p.Ser428=) c.1223C>G (p.Pro408Arg)
11	g.47438015G>T	CA380325582	RAPSN	c.1199C>A (p.Pro400His) c.1022C>A (p.Pro341His) c.1040C>A (p.Pro347His) n.154C>A c.1145C>A (p.Pro382His) c.1076C>A (p.Pro359His) c.1284C>A (p.Ser428=) c.1223C>A (p.Pro408His)	gnomAD v4
11	g.47438016G>A	CA380325588	RAPSN	c.1198C>T (p.Pro400Ser) c.1021C>T (p.Pro341Ser) c.1039C>T (p.Pro347Ser) n.153C>T c.1144C>T (p.Pro382Ser) c.1075C>T (p.Pro359Ser) c.1283C>T (p.Ser428Phe) c.1222C>T (p.Pro408Ser)
11	g.47438016G>C	CA380325583	RAPSN	c.1198C>G (p.Pro400Ala) c.1021C>G (p.Pro341Ala) c.1039C>G (p.Pro347Ala) n.153C>G c.1144C>G (p.Pro382Ala) c.1075C>G (p.Pro359Ala) c.1283C>G (p.Ser428Cys) c.1222C>G (p.Pro408Ala)
11	g.47438016G>T	CA380325584	RAPSN	c.1198C>A (p.Pro400Thr) c.1021C>A (p.Pro341Thr) c.1039C>A (p.Pro347Thr) n.153C>A c.1144C>A (p.Pro382Thr) c.1075C>A (p.Pro359Thr) c.1283C>A (p.Ser428Tyr) c.1222C>A (p.Pro408Thr)
11	g.47438017A>C	CA380325590	RAPSN	c.1197T>G (p.Cys399Trp) c.1020T>G (p.Cys340Trp) c.1038T>G (p.Cys346Trp) n.152T>G c.1143T>G (p.Cys381Trp) c.1074T>G (p.Cys358Trp) c.1282T>G (p.Ser428Ala) c.1221T>G (p.Cys407Trp)
11	g.47438017A>G	CA474217272	RAPSN	c.1197T>C (p.Cys399=) c.1020T>C (p.Cys340=) c.1038T>C (p.Cys346=) n.152T>C c.1143T>C (p.Cys381=) c.1074T>C (p.Cys358=) c.1282T>C (p.Ser428Pro) c.1221T>C (p.Cys407=)
11	g.47438017A>T	CA380325596	RAPSN	c.1197T>A (p.Cys399Ter) c.1020T>A (p.Cys340Ter) c.1038T>A (p.Cys346Ter) n.152T>A c.1143T>A (p.Cys381Ter) c.1074T>A (p.Cys358Ter) c.1282T>A (p.Ser428Thr) c.1221T>A (p.Cys407Ter)
11	g.47438018C>A	CA380325599	RAPSN	c.1196G>T (p.Cys399Phe) c.1019G>T (p.Cys340Phe) c.1037G>T (p.Cys346Phe) n.151G>T c.1142G>T (p.Cys381Phe) c.1073G>T (p.Cys358Phe) c.1281G>T (p.Leu427=) c.1220G>T (p.Cys407Phe)	gnomAD v4
11	g.47438018C>G	CA380325609	RAPSN	c.1196G>C (p.Cys399Ser) c.1019G>C (p.Cys340Ser) c.1037G>C (p.Cys346Ser) n.151G>C c.1142G>C (p.Cys381Ser) c.1073G>C (p.Cys358Ser) c.1281G>C (p.Leu427=) c.1220G>C (p.Cys407Ser)	gnomAD v4
11	g.47438018C>T	CA380325613	RAPSN	c.1196G>A (p.Cys399Tyr) c.1019G>A (p.Cys340Tyr) c.1037G>A (p.Cys346Tyr) n.151G>A c.1142G>A (p.Cys381Tyr) c.1073G>A (p.Cys358Tyr) c.1281G>A (p.Leu427=) c.1220G>A (p.Cys407Tyr)	gnomAD v4

Number of alleles fetched