Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
11	g.47441831C>A	CA380329934	RAPSN	c.781G>T (p.Asp261Tyr) c.622G>T (p.Asp208Tyr)	gnomAD v4
11	g.47441831C=	CA1969387684	RAPSN	c.781G= (p.Asp261=) c.622G= (p.Asp208=)
11	g.47441831C>G	CA380329936	RAPSN	c.781G>C (p.Asp261His) c.622G>C (p.Asp208His)
11	g.47441831C>T	CA5976641	RAPSN	c.781G>A (p.Asp261Asn) c.622G>A (p.Asp208Asn)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.47441834del	CA2613413576	RAPSN	c.781del (p.Asp261ThrfsTer13) c.781del (p.Asp261ThrfsTer4) c.622del (p.Asp208ThrfsTer13) c.781del (p.Asp261ThrfsTer22)	gnomAD v4
11	g.47441832C>A	CA474218222	RAPSN	c.780G>T (p.Gly260=) c.621G>T (p.Gly207=)
11	g.47441832C=	CA1969387685	RAPSN	c.780G= (p.Gly260=) c.621G= (p.Gly207=)
11	g.47441832C>G	CA474218223	RAPSN	c.780G>C (p.Gly260=) c.621G>C (p.Gly207=)
11	g.47441832C>T	CA474218224	RAPSN	c.780G>A (p.Gly260=) c.621G>A (p.Gly207=)	dbSNP gnomAD v3 gnomAD v4
11	g.47441833C>A	CA380329942	RAPSN	c.779G>T (p.Gly260Val) c.620G>T (p.Gly207Val)	gnomAD v4
11	g.47441833C>G	CA380329944	RAPSN	c.779G>C (p.Gly260Ala) c.620G>C (p.Gly207Ala)
11	g.47441833C>T	CA380329945	RAPSN	c.779G>A (p.Gly260Glu) c.620G>A (p.Gly207Glu)
11	g.47441834C>A	CA380329951	RAPSN	c.778G>T (p.Gly260Trp) c.619G>T (p.Gly207Trp)	gnomAD v4
11	g.47441834C>G	CA380329949	RAPSN	c.778G>C (p.Gly260Arg) c.619G>C (p.Gly207Arg)
11	g.47441834C>T	CA380329946	RAPSN	c.778G>A (p.Gly260Arg) c.619G>A (p.Gly207Arg)	gnomAD v4
11	g.47441835A>C	CA474218229	RAPSN	c.777T>G (p.Arg259=) c.618T>G (p.Arg206=)
11	g.47441835A>G	CA474218230	RAPSN	c.777T>C (p.Arg259=) c.618T>C (p.Arg206=)	gnomAD v4
11	g.47441835A>T	CA474218228	RAPSN	c.777T>A (p.Arg259=) c.618T>A (p.Arg206=)
11	g.47441836C>A	CA380329952	RAPSN	c.776G>T (p.Arg259Leu) c.617G>T (p.Arg206Leu)	gnomAD v4
11	g.47441836C=	CA1969387686	RAPSN	c.776G= (p.Arg259=) c.617G= (p.Arg206=)
11	g.47441836C>G	CA380329954	RAPSN	c.776G>C (p.Arg259Pro) c.617G>C (p.Arg206Pro)	gnomAD v4
11	g.47441836C>T	CA5976642	RAPSN	c.776G>A (p.Arg259His) c.617G>A (p.Arg206His)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.47441837G>A	CA5976643	RAPSN	c.775C>T (p.Arg259Cys) c.616C>T (p.Arg206Cys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.47441837G>C	CA5976644	RAPSN	c.775C>G (p.Arg259Gly) c.616C>G (p.Arg206Gly)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.47441837G=	CA1969387687	RAPSN	c.775C= (p.Arg259=) c.616C= (p.Arg206=)
11	g.47441837G>T	CA380329966	RAPSN	c.775C>A (p.Arg259Ser) c.616C>A (p.Arg206Ser)	gnomAD v4
11	g.47441838G>A	CA474218231	RAPSN	c.774C>T (p.Ser258=) c.615C>T (p.Ser205=)	ClinVar dbSNP gnomAD v4
11	g.47441838G>C	CA380329970	RAPSN	c.774C>G (p.Ser258Arg) c.615C>G (p.Ser205Arg)
11	g.47441838G>T	CA380329973	RAPSN	c.774C>A (p.Ser258Arg) c.615C>A (p.Ser205Arg)	gnomAD v4
11	g.47441839C>A	CA380329976	RAPSN	c.773G>T (p.Ser258Ile) c.614G>T (p.Ser205Ile)	gnomAD v4
11	g.47441839C>G	CA380329978	RAPSN	c.773G>C (p.Ser258Thr) c.614G>C (p.Ser205Thr)
11	g.47441839C>T	CA380329981	RAPSN	c.773G>A (p.Ser258Asn) c.614G>A (p.Ser205Asn)	gnomAD v4 COSMIC
11	g.47441840T>A	CA380329985	RAPSN	c.772A>T (p.Ser258Cys) c.613A>T (p.Ser205Cys)
11	g.47441840T>C	CA380329987	RAPSN	c.772A>G (p.Ser258Gly) c.613A>G (p.Ser205Gly)	gnomAD v4
11	g.47441840T>G	CA380329989	RAPSN	c.772A>C (p.Ser258Arg) c.613A>C (p.Ser205Arg)
11	g.47441841C>A	CA474218233	RAPSN	c.771G>T (p.Arg257=) c.612G>T (p.Arg204=)	gnomAD v4
11	g.47441841C>G	CA474218235	RAPSN	c.771G>C (p.Arg257=) c.612G>C (p.Arg204=)
11	g.47441841C>T	CA474218234	RAPSN	c.771G>A (p.Arg257=) c.612G>A (p.Arg204=)	gnomAD v4
11	g.47441842C>A	CA380329996	RAPSN	c.770G>T (p.Arg257Leu) c.611G>T (p.Arg204Leu)	gnomAD v4
11	g.47441842C=	CA1969387688	RAPSN	c.770G= (p.Arg257=) c.611G= (p.Arg204=)
11	g.47441842C>G	CA380329998	RAPSN	c.770G>C (p.Arg257Pro) c.611G>C (p.Arg204Pro)	gnomAD v4
11	g.47441842C>T	CA5976645	RAPSN	c.770G>A (p.Arg257Gln) c.611G>A (p.Arg204Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.47441843G>A	CA5976646	RAPSN	c.769C>T (p.Arg257Trp) c.610C>T (p.Arg204Trp)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.47441843G>C	CA380330004	RAPSN	c.769C>G (p.Arg257Gly) c.610C>G (p.Arg204Gly)	ClinVar
11	g.47441843G=	CA1969387689	RAPSN	c.769C= (p.Arg257=) c.610C= (p.Arg204=)
11	g.47441843G>T	CA474218236	RAPSN	c.769C>A (p.Arg257=) c.610C>A (p.Arg204=)	gnomAD v4
11	g.47441844G>A	CA5976647	RAPSN	c.768C>T (p.His256=) c.609C>T (p.His203=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11	g.47441844G>C	CA380330010	RAPSN	c.768C>G (p.His256Gln) c.609C>G (p.His203Gln)
11	g.47441844G=	CA1969387690	RAPSN	c.768C= (p.His256=) c.609C= (p.His203=)
11	g.47441844G>T	CA380330013	RAPSN	c.768C>A (p.His256Gln) c.609C>A (p.His203Gln)	gnomAD v4
11	g.47441845T>A	CA380330016	RAPSN	c.767A>T (p.His256Leu) c.608A>T (p.His203Leu)
11	g.47441845T>C	CA380330018	RAPSN	c.767A>G (p.His256Arg) c.608A>G (p.His203Arg)	dbSNP
11	g.47441845T>G	CA380330020	RAPSN	c.767A>C (p.His256Pro) c.608A>C (p.His203Pro)	dbSNP
11	g.47441845T=	CA1969387691	RAPSN	c.767A= (p.His256=) c.608A= (p.His203=)
11	g.47441846G>A	CA380330023	RAPSN	c.766C>T (p.His256Tyr) c.607C>T (p.His203Tyr)	gnomAD v4
11	g.47441846G>C	CA380330030	RAPSN	c.766C>G (p.His256Asp) c.607C>G (p.His203Asp)
11	g.47441846G>T	CA380330032	RAPSN	c.766C>A (p.His256Asn) c.607C>A (p.His203Asn)	gnomAD v4
11	g.47441847G>A	CA474218237	RAPSN	c.765C>T (p.Ile255=) c.606C>T (p.Ile202=)	dbSNP gnomAD v2 gnomAD v4
11	g.47441847G>C	CA380330034	RAPSN	c.765C>G (p.Ile255Met) c.606C>G (p.Ile202Met)
11	g.47441847G=	CA1969387692	RAPSN	c.765C= (p.Ile255=) c.606C= (p.Ile202=)
11	g.47441847G>T	CA474218238	RAPSN	c.765C>A (p.Ile255=) c.606C>A (p.Ile202=)	ClinVar dbSNP gnomAD v4
11	g.47441848A=	CA1969387693	RAPSN	c.764T= (p.Ile255=) c.605T= (p.Ile202=)
11	g.47441848A>C	CA380330046	RAPSN	c.764T>G (p.Ile255Ser) c.605T>G (p.Ile202Ser)
11	g.47441848A>G	CA380330042	RAPSN	c.764T>C (p.Ile255Thr) c.605T>C (p.Ile202Thr)	dbSNP gnomAD v2 gnomAD v4
11	g.47441848A>T	CA380330039	RAPSN	c.764T>A (p.Ile255Asn) c.605T>A (p.Ile202Asn)
11	g.47441849T>A	CA380330057	RAPSN	c.763A>T (p.Ile255Phe) c.604A>T (p.Ile202Phe)
11	g.47441849T>C	CA5976648	RAPSN	c.763A>G (p.Ile255Val) c.604A>G (p.Ile202Val)	dbSNP ExAC gnomAD v2 gnomAD v4
11	g.47441849T>G	CA380330061	RAPSN	c.763A>C (p.Ile255Leu) c.604A>C (p.Ile202Leu)
11	g.47441849T=	CA1969387694	RAPSN	c.763A= (p.Ile255=) c.604A= (p.Ile202=)
11	g.47441850G>A	CA474218241	RAPSN	c.762C>T (p.Asp254=) c.603C>T (p.Asp201=)	gnomAD v4
11	g.47441850G>C	CA380330064	RAPSN	c.762C>G (p.Asp254Glu) c.603C>G (p.Asp201Glu)
11	g.47441850G>T	CA380330065	RAPSN	c.762C>A (p.Asp254Glu) c.603C>A (p.Asp201Glu)	gnomAD v4
11	g.47441851T>A	CA380330069	RAPSN	c.761A>T (p.Asp254Val) c.602A>T (p.Asp201Val)	gnomAD v4
11	g.47441851T>C	CA380330077	RAPSN	c.761A>G (p.Asp254Gly) c.602A>G (p.Asp201Gly)
11	g.47441851T>G	CA380330081	RAPSN	c.761A>C (p.Asp254Ala) c.602A>C (p.Asp201Ala)
11	g.47441852C>A	CA380330082	RAPSN	c.760G>T (p.Asp254Tyr) c.601G>T (p.Asp201Tyr)
11	g.47441852C=	CA1969387695	RAPSN	c.760G= (p.Asp254=) c.601G= (p.Asp201=)
11	g.47441852C>G	CA380330083	RAPSN	c.760G>C (p.Asp254His) c.601G>C (p.Asp201His)
11	g.47441852C>T	CA5976649	RAPSN	c.760G>A (p.Asp254Asn) c.601G>A (p.Asp201Asn)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.47441853A=	CA1969387696	RAPSN	c.759T= (p.Ala253=) c.600T= (p.Ala200=)
11	g.47441853A>C	CA474218256	RAPSN	c.759T>G (p.Ala253=) c.600T>G (p.Ala200=)
11	g.47441853A>G	CA221716691	RAPSN	c.759T>C (p.Ala253=) c.600T>C (p.Ala200=)	dbSNP gnomAD v4
11	g.47441853A>T	CA474218260	RAPSN	c.759T>A (p.Ala253=) c.600T>A (p.Ala200=)	gnomAD v4
11	g.47441854G>A	CA380330086	RAPSN	c.758C>T (p.Ala253Val) c.599C>T (p.Ala200Val)	gnomAD v4
11	g.47441854G>C	CA380330095	RAPSN	c.758C>G (p.Ala253Gly) c.599C>G (p.Ala200Gly)
11	g.47441854G>T	CA380330089	RAPSN	c.758C>A (p.Ala253Asp) c.599C>A (p.Ala200Asp)	gnomAD v4
11	g.47441855C>A	CA380330099	RAPSN	c.757G>T (p.Ala253Ser) c.598G>T (p.Ala200Ser)	gnomAD v4
11	g.47441855C>G	CA380330103	RAPSN	c.757G>C (p.Ala253Pro) c.598G>C (p.Ala200Pro)
11	g.47441855C>T	CA380330101	RAPSN	c.757G>A (p.Ala253Thr) c.598G>A (p.Ala200Thr)	ClinVar dbSNP gnomAD v4
11	g.47441856G>A	CA5976650	RAPSN	c.756C>T (p.Phe252=) c.597C>T (p.Phe199=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.47441856G>C	CA380330112	RAPSN	c.756C>G (p.Phe252Leu) c.597C>G (p.Phe199Leu)
11	g.47441856G=	CA1969387697	RAPSN	c.756C= (p.Phe252=) c.597C= (p.Phe199=)
11	g.47441856G>T	CA380330110	RAPSN	c.756C>A (p.Phe252Leu) c.597C>A (p.Phe199Leu)	gnomAD v4
11	g.47441857A>C	CA380330115	RAPSN	c.755T>G (p.Phe252Cys) c.596T>G (p.Phe199Cys)
11	g.47441857A>G	CA380330116	RAPSN	c.755T>C (p.Phe252Ser) c.596T>C (p.Phe199Ser)
11	g.47441857A>T	CA380330117	RAPSN	c.755T>A (p.Phe252Tyr) c.596T>A (p.Phe199Tyr)
11	g.47441858A>C	CA380330118	RAPSN	c.754T>G (p.Phe252Val) c.595T>G (p.Phe199Val)
11	g.47441858A>G	CA380330119	RAPSN	c.754T>C (p.Phe252Leu) c.595T>C (p.Phe199Leu)
11	g.47441858A>T	CA380330121	RAPSN	c.754T>A (p.Phe252Ile) c.595T>A (p.Phe199Ile)	gnomAD v4
11	g.47441860_47441862del	CA2830782724	RAPSN	c.752_754del (p.Cys251del) c.593_595del (p.Cys198del)
11	g.47441859G>A	CA474218274	RAPSN	c.753C>T (p.Cys251=) c.594C>T (p.Cys198=)	gnomAD v4
11	g.47441859G>C	CA380330123	RAPSN	c.753C>G (p.Cys251Trp) c.594C>G (p.Cys198Trp)
11	g.47441859G>T	CA380330126	RAPSN	c.753C>A (p.Cys251Ter) c.594C>A (p.Cys198Ter)	gnomAD v4
11	g.47441860C>A	CA380330135	RAPSN	c.752G>T (p.Cys251Phe) c.593G>T (p.Cys198Phe)	gnomAD v4
11	g.47441860C>G	CA380330136	RAPSN	c.752G>C (p.Cys251Ser) c.593G>C (p.Cys198Ser)
11	g.47441860C>T	CA380330139	RAPSN	c.752G>A (p.Cys251Tyr) c.593G>A (p.Cys198Tyr)	gnomAD v4
11	g.47441861A>C	CA380330144	RAPSN	c.751T>G (p.Cys251Gly) c.592T>G (p.Cys198Gly)
11	g.47441861A>G	CA380330143	RAPSN	c.751T>C (p.Cys251Arg) c.592T>C (p.Cys198Arg)
11	g.47441861A>T	CA380330142	RAPSN	c.751T>A (p.Cys251Ser) c.592T>A (p.Cys198Ser)
11	g.47441862G>A	CA474218285	RAPSN	c.750C>T (p.Leu250=) c.591C>T (p.Leu197=)	ClinVar dbSNP gnomAD v4
11	g.47441862G>C	CA474218288	RAPSN	c.750C>G (p.Leu250=) c.591C>G (p.Leu197=)
11	g.47441862G>T	CA474218297	RAPSN	c.750C>A (p.Leu250=) c.591C>A (p.Leu197=)	gnomAD v4
11	g.47441863A=	CA1969387698	RAPSN	c.749T= (p.Leu250=) c.590T= (p.Leu197=)
11	g.47441863A>C	CA380330147	RAPSN	c.749T>G (p.Leu250Arg) c.590T>G (p.Leu197Arg)
11	g.47441863A>G	CA380330148	RAPSN	c.749T>C (p.Leu250Pro) c.590T>C (p.Leu197Pro)
11	g.47441863A>T	CA380330154	RAPSN	c.749T>A (p.Leu250His) c.590T>A (p.Leu197His)	dbSNP
11	g.47441864G>A	CA380330157	RAPSN	c.748C>T (p.Leu250Phe) c.589C>T (p.Leu197Phe)	dbSNP gnomAD v3 gnomAD v4
11	g.47441864G>C	CA380330163	RAPSN	c.748C>G (p.Leu250Val) c.589C>G (p.Leu197Val)
11	g.47441864G=	CA1969387699	RAPSN	c.748C= (p.Leu250=) c.589C= (p.Leu197=)
11	g.47441864G>T	CA380330170	RAPSN	c.748C>A (p.Leu250Ile) c.589C>A (p.Leu197Ile)	gnomAD v4
11	g.47441865C>A	CA474218306	RAPSN	c.747G>T (p.Leu249=) c.588G>T (p.Leu196=)	dbSNP gnomAD v2 gnomAD v4
11	g.47441865C=	CA1969387700	RAPSN	c.747G= (p.Leu249=) c.588G= (p.Leu196=)
11	g.47441865C>G	CA474218309	RAPSN	c.747G>C (p.Leu249=) c.588G>C (p.Leu196=)	ClinVar dbSNP gnomAD v4
11	g.47441865C>T	CA474218312	RAPSN	c.747G>A (p.Leu249=) c.588G>A (p.Leu196=)	gnomAD v4
11	g.47441866A>C	CA380330172	RAPSN	c.746T>G (p.Leu249Arg) c.587T>G (p.Leu196Arg)
11	g.47441866A>G	CA380330174	RAPSN	c.746T>C (p.Leu249Pro) c.587T>C (p.Leu196Pro)
11	g.47441866A>T	CA380330181	RAPSN	c.746T>A (p.Leu249Gln) c.587T>A (p.Leu196Gln)	gnomAD v4
11	g.47441867G>A	CA474218319	RAPSN	c.745C>T (p.Leu249=) c.586C>T (p.Leu196=)	ClinVar
11	g.47441867G>C	CA380330189	RAPSN	c.745C>G (p.Leu249Val) c.586C>G (p.Leu196Val)
11	g.47441867G>T	CA380330191	RAPSN	c.745C>A (p.Leu249Met) c.586C>A (p.Leu196Met)	gnomAD v4
11	g.47441868del	CA2613403478	RAPSN	c.745del (p.Leu249CysfsTer25) c.745del (p.Leu249CysfsTer16) c.586del (p.Leu196CysfsTer25) c.745del (p.Leu249CysfsTer?)	gnomAD v4
11	g.47441868G>A	CA5976651	RAPSN	c.744C>T (p.Cys248=) c.585C>T (p.Cys195=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11	g.47441868G>C	CA380330195	RAPSN	c.744C>G (p.Cys248Trp) c.585C>G (p.Cys195Trp)
11	g.47441868G=	CA1969387701	RAPSN	c.744C= (p.Cys248=) c.585C= (p.Cys195=)
11	g.47441868G>T	CA380330193	RAPSN	c.744C>A (p.Cys248Ter) c.585C>A (p.Cys195Ter)	gnomAD v4
11	g.47441869C>A	CA380330197	RAPSN	c.743G>T (p.Cys248Phe) c.584G>T (p.Cys195Phe)	gnomAD v4
11	g.47441869C>G	CA380330207	RAPSN	c.743G>C (p.Cys248Ser) c.584G>C (p.Cys195Ser)
11	g.47441869C>T	CA380330209	RAPSN	c.743G>A (p.Cys248Tyr) c.584G>A (p.Cys195Tyr)	gnomAD v4
11	g.47441870A>C	CA380330210	RAPSN	c.742T>G (p.Cys248Gly) c.583T>G (p.Cys195Gly)
11	g.47441870A>G	CA380330212	RAPSN	c.742T>C (p.Cys248Arg) c.583T>C (p.Cys195Arg)	gnomAD v4
11	g.47441870A>T	CA380330222	RAPSN	c.742T>A (p.Cys248Ser) c.583T>A (p.Cys195Ser)
11	g.47441871G>A	CA474218337	RAPSN	c.741C>T (p.Leu247=) c.582C>T (p.Leu194=)	gnomAD v4 COSMIC
11	g.47441871G>C	CA5976652	RAPSN	c.741C>G (p.Leu247=) c.582C>G (p.Leu194=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.47441871G=	CA1969387702	RAPSN	c.741C= (p.Leu247=) c.582C= (p.Leu194=)
11	g.47441871G>T	CA474218340	RAPSN	c.741C>A (p.Leu247=) c.582C>A (p.Leu194=)	gnomAD v4
11	g.47441872A>C	CA380330229	RAPSN	c.740T>G (p.Leu247Arg) c.581T>G (p.Leu194Arg)
11	g.47441872A>G	CA380330230	RAPSN	c.740T>C (p.Leu247Pro) c.581T>C (p.Leu194Pro)	gnomAD v4
11	g.47441872A>T	CA380330231	RAPSN	c.740T>A (p.Leu247His) c.581T>A (p.Leu194His)
11	g.47441873G>A	CA380330232	RAPSN	c.739C>T (p.Leu247Phe) c.580C>T (p.Leu194Phe)	dbSNP gnomAD v4 COSMIC
11	g.47441873G>C	CA380330233	RAPSN	c.739C>G (p.Leu247Val) c.580C>G (p.Leu194Val)
11	g.47441873G=	CA1969387703	RAPSN	c.739C= (p.Leu247=) c.580C= (p.Leu194=)
11	g.47441873G>T	CA380330235	RAPSN	c.739C>A (p.Leu247Ile) c.580C>A (p.Leu194Ile)	gnomAD v4
11	g.47441874C>A	CA474218346	RAPSN	c.738G>T (p.Ala246=) c.579G>T (p.Ala193=)	ClinVar dbSNP gnomAD v2 gnomAD v4
11	g.47441874C=	CA1969387704	RAPSN	c.738G= (p.Ala246=) c.579G= (p.Ala193=)
11	g.47441874C>G	CA474218344	RAPSN	c.738G>C (p.Ala246=) c.579G>C (p.Ala193=)	gnomAD v4
11	g.47441874C>T	CA221716734	RAPSN	c.738G>A (p.Ala246=) c.579G>A (p.Ala193=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11	g.47441874_47441875insT	CA2574817152	RAPSN	c.737_738insA (p.Leu247AlafsTer8) c.578_579insA (p.Leu194AlafsTer8)	ClinVar
11	g.47441875G>A	CA275256	RAPSN	c.737C>T (p.Ala246Val) c.578C>T (p.Ala193Val)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11	g.47441875G>C	CA380330238	RAPSN	c.737C>G (p.Ala246Gly) c.578C>G (p.Ala193Gly)
11	g.47441875G=	CA1969387705	RAPSN	c.737C= (p.Ala246=) c.578C= (p.Ala193=)
11	g.47441875G>T	CA380330239	RAPSN	c.737C>A (p.Ala246Glu) c.578C>A (p.Ala193Glu)	gnomAD v4
11	g.47441876C>A	CA380330244	RAPSN	c.736G>T (p.Ala246Ser) c.577G>T (p.Ala193Ser)	gnomAD v4
11	g.47441876C>G	CA380330246	RAPSN	c.736G>C (p.Ala246Pro) c.577G>C (p.Ala193Pro)
11	g.47441876C>T	CA380330251	RAPSN	c.736G>A (p.Ala246Thr) c.577G>A (p.Ala193Thr)	gnomAD v4
11	g.47441877C>A	CA380330253	RAPSN	c.735G>T (p.Gln245His) c.576G>T (p.Gln192His)	gnomAD v4
11	g.47441877C>G	CA380330256	RAPSN	c.735G>C (p.Gln245His) c.576G>C (p.Gln192His)
11	g.47441877C>T	CA474218361	RAPSN	c.735G>A (p.Gln245=) c.576G>A (p.Gln192=)	ClinVar dbSNP gnomAD v4
11	g.47441878T>A	CA380330260	RAPSN	c.734A>T (p.Gln245Leu) c.575A>T (p.Gln192Leu)
11	g.47441878T>C	CA380330264	RAPSN	c.734A>G (p.Gln245Arg) c.575A>G (p.Gln192Arg)	gnomAD v4
11	g.47441878T>G	CA380330265	RAPSN	c.734A>C (p.Gln245Pro) c.575A>C (p.Gln192Pro)
11	g.47441879G>A	CA380330266	RAPSN	c.733C>T (p.Gln245Ter) c.574C>T (p.Gln192Ter)	ClinVar gnomAD v4
11	g.47441879G>C	CA380330267	RAPSN	c.733C>G (p.Gln245Glu) c.574C>G (p.Gln192Glu)	gnomAD v4
11	g.47441879G=	CA1969387706	RAPSN	c.733C= (p.Gln245=) c.574C= (p.Gln192=)
11	g.47441879G>T	CA380330268	RAPSN	c.733C>A (p.Gln245Lys) c.574C>A (p.Gln192Lys)	gnomAD v4
11	g.47441880C>A	CA474218369	RAPSN	c.732G>T (p.Leu244=) c.573G>T (p.Leu191=)	gnomAD v4
11	g.47441880C>G	CA474218372	RAPSN	c.732G>C (p.Leu244=) c.573G>C (p.Leu191=)
11	g.47441880C>T	CA474218371	RAPSN	c.732G>A (p.Leu244=) c.573G>A (p.Leu191=)	gnomAD v4
11	g.47441880_47441923dup	CA1139661959	RAPSN	c.691-2_732dup c.532-2_573dup	ClinVar dbSNP
11	g.47441881A=	CA1969387707	RAPSN	c.731T= (p.Leu244=) c.572T= (p.Leu191=)
11	g.47441881A>C	CA380330281	RAPSN	c.731T>G (p.Leu244Arg) c.572T>G (p.Leu191Arg)
11	g.47441881A>G	CA380330278	RAPSN	c.731T>C (p.Leu244Pro) c.572T>C (p.Leu191Pro)	ClinVar dbSNP
11	g.47441881A>T	CA380330271	RAPSN	c.731T>A (p.Leu244Gln) c.572T>A (p.Leu191Gln)	gnomAD v4
11	g.47441882G>A	CA474218383	RAPSN	c.730C>T (p.Leu244=) c.571C>T (p.Leu191=)	gnomAD v4
11	g.47441882G>C	CA380330285	RAPSN	c.730C>G (p.Leu244Val) c.571C>G (p.Leu191Val)
11	g.47441882G>T	CA380330292	RAPSN	c.730C>A (p.Leu244Met) c.571C>A (p.Leu191Met)	gnomAD v4
11	g.47441883T>A	CA474218385	RAPSN	c.729A>T (p.Pro243=) c.570A>T (p.Pro190=)	gnomAD v4
11	g.47441883T>C	CA474218386	RAPSN	c.729A>G (p.Pro243=) c.570A>G (p.Pro190=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11	g.47441883T>G	CA474218389	RAPSN	c.729A>C (p.Pro243=) c.570A>C (p.Pro190=)	dbSNP
11	g.47441883T=	CA1969387708	RAPSN	c.729A= (p.Pro243=) c.570A= (p.Pro190=)
11	g.47441884G>A	CA380330296	RAPSN	c.728C>T (p.Pro243Leu) c.569C>T (p.Pro190Leu)	dbSNP gnomAD v2 gnomAD v4
11	g.47441884G>C	CA380330298	RAPSN	c.728C>G (p.Pro243Arg) c.569C>G (p.Pro190Arg)
11	g.47441884G=	CA1969387709	RAPSN	c.728C= (p.Pro243=) c.569C= (p.Pro190=)
11	g.47441884G>T	CA380330305	RAPSN	c.728C>A (p.Pro243Gln) c.569C>A (p.Pro190Gln)	gnomAD v4
11	g.47441885G>A	CA380330316	RAPSN	c.727C>T (p.Pro243Ser) c.568C>T (p.Pro190Ser)	gnomAD v4
11	g.47441885G>C	CA380330318	RAPSN	c.727C>G (p.Pro243Ala) c.568C>G (p.Pro190Ala)	gnomAD v4
11	g.47441885G>T	CA380330321	RAPSN	c.727C>A (p.Pro243Thr) c.568C>A (p.Pro190Thr)	gnomAD v4
11	g.47441886C>A	CA474218398	RAPSN	c.726G>T (p.Arg242=) c.567G>T (p.Arg189=)
11	g.47441886C=	CA1969387710	RAPSN	c.726G= (p.Arg242=) c.567G= (p.Arg189=)
11	g.47441886C>G	CA474218400	RAPSN	c.726G>C (p.Arg242=) c.567G>C (p.Arg189=)
11	g.47441886C>T	CA5976653	RAPSN	c.726G>A (p.Arg242=) c.567G>A (p.Arg189=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11	g.47441887C>A	CA380330336	RAPSN	c.725G>T (p.Arg242Leu) c.566G>T (p.Arg189Leu)	gnomAD v4
11	g.47441887C=	CA1969387711	RAPSN	c.725G= (p.Arg242=) c.566G= (p.Arg189=)
11	g.47441887C>G	CA5976655	RAPSN	c.725G>C (p.Arg242Pro) c.566G>C (p.Arg189Pro)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.47441887C>T	CA5976654	RAPSN	c.725G>A (p.Arg242Gln) c.566G>A (p.Arg189Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11	g.47441888G>A	CA221716778	RAPSN	c.724C>T (p.Arg242Trp) c.565C>T (p.Arg189Trp)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11	g.47441888G>C	CA380330346	RAPSN	c.724C>G (p.Arg242Gly) c.565C>G (p.Arg189Gly)	ClinVar
11	g.47441888G=	CA1969387712	RAPSN	c.724C= (p.Arg242=) c.565C= (p.Arg189=)
11	g.47441888G>T	CA474218415	RAPSN	c.724C>A (p.Arg242=) c.565C>A (p.Arg189=)	gnomAD v4
11	g.47441889G>A	CA5976656	RAPSN	c.723C>T (p.Asp241=) c.564C>T (p.Asp188=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.47441889G>C	CA380330356	RAPSN	c.723C>G (p.Asp241Glu) c.564C>G (p.Asp188Glu)
11	g.47441889G=	CA1969387713	RAPSN	c.723C= (p.Asp241=) c.564C= (p.Asp188=)
11	g.47441889G>T	CA380330353	RAPSN	c.723C>A (p.Asp241Glu) c.564C>A (p.Asp188Glu)	gnomAD v4
11	g.47441890T>A	CA380330361	RAPSN	c.722A>T (p.Asp241Val) c.563A>T (p.Asp188Val)	dbSNP gnomAD v2 gnomAD v4
11	g.47441890T>C	CA380330364	RAPSN	c.722A>G (p.Asp241Gly) c.563A>G (p.Asp188Gly)	gnomAD v4
11	g.47441890T>G	CA380330367	RAPSN	c.722A>C (p.Asp241Ala) c.563A>C (p.Asp188Ala)	dbSNP gnomAD v4
11	g.47441890T=	CA1969387714	RAPSN	c.722A= (p.Asp241=) c.563A= (p.Asp188=)
11	g.47441891C>A	CA380330369	RAPSN	c.721G>T (p.Asp241Tyr) c.562G>T (p.Asp188Tyr)	gnomAD v4
11	g.47441891C=	CA1969387715	RAPSN	c.721G= (p.Asp241=) c.562G= (p.Asp188=)
11	g.47441891C>G	CA380330370	RAPSN	c.721G>C (p.Asp241His) c.562G>C (p.Asp188His)
11	g.47441891C>T	CA380330371	RAPSN	c.721G>A (p.Asp241Asn) c.562G>A (p.Asp188Asn)	dbSNP gnomAD v3 gnomAD v4 COSMIC
11	g.47441894del	CA2613403883	RAPSN	c.721del (p.Asp241ThrfsTer?) c.721del (p.Asp241ThrfsTer24) c.562del (p.Asp188ThrfsTer?)	gnomAD v4
11	g.47441892C>A	CA474218428	RAPSN	c.720G>T (p.Gly240=) c.561G>T (p.Gly187=)	gnomAD v4
11	g.47441892C>G	CA474218429	RAPSN	c.720G>C (p.Gly240=) c.561G>C (p.Gly187=)	gnomAD v4
11	g.47441892C>T	CA474218431	RAPSN	c.720G>A (p.Gly240=) c.561G>A (p.Gly187=)	gnomAD v4
11	g.47441893C>A	CA380330375	RAPSN	c.719G>T (p.Gly240Val) c.560G>T (p.Gly187Val)	gnomAD v4
11	g.47441893C>G	CA380330377	RAPSN	c.719G>C (p.Gly240Ala) c.560G>C (p.Gly187Ala)
11	g.47441893C>T	CA380330381	RAPSN	c.719G>A (p.Gly240Glu) c.560G>A (p.Gly187Glu)	gnomAD v4
11	g.47441894C>A	CA221716809	RAPSN	c.718G>T (p.Gly240Trp) c.559G>T (p.Gly187Trp)	dbSNP gnomAD v4
11	g.47441894C=	CA1969387716	RAPSN	c.718G= (p.Gly240=) c.559G= (p.Gly187=)
11	g.47441894C>G	CA380330388	RAPSN	c.718G>C (p.Gly240Arg) c.559G>C (p.Gly187Arg)	dbSNP gnomAD v4
11	g.47441894C>T	CA5976657	RAPSN	c.718G>A (p.Gly240Arg) c.559G>A (p.Gly187Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.47441895G>A	CA5976658	RAPSN	c.717C>T (p.His239=) c.558C>T (p.His186=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.47441895G>C	CA380330395	RAPSN	c.717C>G (p.His239Gln) c.558C>G (p.His186Gln)
11	g.47441895G=	CA1969387717	RAPSN	c.717C= (p.His239=) c.558C= (p.His186=)
11	g.47441895G>T	CA380330393	RAPSN	c.717C>A (p.His239Gln) c.558C>A (p.His186Gln)	gnomAD v4
11	g.47441896T>A	CA380330405	RAPSN	c.716A>T (p.His239Leu) c.557A>T (p.His186Leu)
11	g.47441896T>C	CA380330408	RAPSN	c.716A>G (p.His239Arg) c.557A>G (p.His186Arg)	gnomAD v4
11	g.47441896T>G	CA380330409	RAPSN	c.716A>C (p.His239Pro) c.557A>C (p.His186Pro)	dbSNP
11	g.47441896T=	CA1969387718	RAPSN	c.716A= (p.His239=) c.557A= (p.His186=)
11	g.47441897G>A	CA221716825	RAPSN	c.715C>T (p.His239Tyr) c.556C>T (p.His186Tyr)	dbSNP gnomAD v2 gnomAD v4
11	g.47441897G>C	CA380330419	RAPSN	c.715C>G (p.His239Asp) c.556C>G (p.His186Asp)
11	g.47441897G=	CA1969387719	RAPSN	c.715C= (p.His239=) c.556C= (p.His186=)
11	g.47441897G>T	CA380330422	RAPSN	c.715C>A (p.His239Asn) c.556C>A (p.His186Asn)	gnomAD v4
11	g.47441898C>A	CA380330437	RAPSN	c.714G>T (p.Gln238His) c.555G>T (p.Gln185His)	gnomAD v4
11	g.47441898C>G	CA380330434	RAPSN	c.714G>C (p.Gln238His) c.555G>C (p.Gln185His)	gnomAD v4
11	g.47441898C>T	CA474218448	RAPSN	c.714G>A (p.Gln238=) c.555G>A (p.Gln185=)	ClinVar dbSNP gnomAD v4
11	g.47441899T>A	CA380330438	RAPSN	c.713A>T (p.Gln238Leu) c.554A>T (p.Gln185Leu)
11	g.47441899T>C	CA380330440	RAPSN	c.713A>G (p.Gln238Arg) c.554A>G (p.Gln185Arg)	gnomAD v4
11	g.47441899T>G	CA380330443	RAPSN	c.713A>C (p.Gln238Pro) c.554A>C (p.Gln185Pro)
11	g.47441900G>A	CA380330446	RAPSN	c.712C>T (p.Gln238Ter) c.553C>T (p.Gln185Ter)	ClinVar dbSNP gnomAD v4
11	g.47441900G>C	CA380330449	RAPSN	c.712C>G (p.Gln238Glu) c.553C>G (p.Gln185Glu)
11	g.47441900G=	CA1969387720	RAPSN	c.712C= (p.Gln238=) c.553C= (p.Gln185=)
11	g.47441900G>T	CA380330451	RAPSN	c.712C>A (p.Gln238Lys) c.553C>A (p.Gln185Lys)	gnomAD v4
11	g.47441901C>A	CA474218455	RAPSN	c.711G>T (p.Leu237=) c.552G>T (p.Leu184=)	gnomAD v4
11	g.47441901C>G	CA474218457	RAPSN	c.711G>C (p.Leu237=) c.552G>C (p.Leu184=)
11	g.47441901C>T	CA474218459	RAPSN	c.711G>A (p.Leu237=) c.552G>A (p.Leu184=)	gnomAD v4
11	g.47441902A=	CA1969387721	RAPSN	c.710T= (p.Leu237=) c.551T= (p.Leu184=)
11	g.47441902A>C	CA380330453	RAPSN	c.710T>G (p.Leu237Arg) c.551T>G (p.Leu184Arg)	dbSNP
11	g.47441902A>G	CA380330458	RAPSN	c.710T>C (p.Leu237Pro) c.551T>C (p.Leu184Pro)	gnomAD v4
11	g.47441902A>T	CA380330455	RAPSN	c.710T>A (p.Leu237Gln) c.551T>A (p.Leu184Gln)
11	g.47441903G>A	CA474218464	RAPSN	c.709C>T (p.Leu237=) c.550C>T (p.Leu184=)	ClinVar dbSNP gnomAD v4
11	g.47441903G>C	CA380330461	RAPSN	c.709C>G (p.Leu237Val) c.550C>G (p.Leu184Val)
11	g.47441903G>T	CA380330464	RAPSN	c.709C>A (p.Leu237Met) c.550C>A (p.Leu184Met)	gnomAD v4
11	g.47441904C>A	CA474218467	RAPSN	c.708G>T (p.Ala236=) c.549G>T (p.Ala183=)	gnomAD v4
11	g.47441904C=	CA1969387722	RAPSN	c.708G= (p.Ala236=) c.549G= (p.Ala183=)
11	g.47441904C>G	CA474218469	RAPSN	c.708G>C (p.Ala236=) c.549G>C (p.Ala183=)	gnomAD v4
11	g.47441904C>T	CA5976659	RAPSN	c.708G>A (p.Ala236=) c.549G>A (p.Ala183=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.47441905G>A	CA380330465	RAPSN	c.707C>T (p.Ala236Val) c.548C>T (p.Ala183Val)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11	g.47441905G>C	CA380330473	RAPSN	c.707C>G (p.Ala236Gly) c.548C>G (p.Ala183Gly)
11	g.47441905G=	CA1969387723	RAPSN	c.707C= (p.Ala236=) c.548C= (p.Ala183=)
11	g.47441905G>T	CA380330476	RAPSN	c.707C>A (p.Ala236Glu) c.548C>A (p.Ala183Glu)	gnomAD v4
11	g.47441906C>A	CA380330479	RAPSN	c.706G>T (p.Ala236Ser) c.547G>T (p.Ala183Ser)	gnomAD v4
11	g.47441906C=	CA1969387724	RAPSN	c.706G= (p.Ala236=) c.547G= (p.Ala183=)
11	g.47441906C>G	CA380330483	RAPSN	c.706G>C (p.Ala236Pro) c.547G>C (p.Ala183Pro)
11	g.47441906C>T	CA5976660	RAPSN	c.706G>A (p.Ala236Thr) c.547G>A (p.Ala183Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.47441907G>A	CA5976661	RAPSN	c.705C>T (p.Ile235=) c.546C>T (p.Ile182=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11	g.47441907G>C	CA380330495	RAPSN	c.705C>G (p.Ile235Met) c.546C>G (p.Ile182Met)
11	g.47441907G=	CA1969387725	RAPSN	c.705C= (p.Ile235=) c.546C= (p.Ile182=)
11	g.47441907G>T	CA474218478	RAPSN	c.705C>A (p.Ile235=) c.546C>A (p.Ile182=)	gnomAD v4
11	g.47441908A=	CA1969387726	RAPSN	c.704T= (p.Ile235=) c.545T= (p.Ile182=)
11	g.47441908A>C	CA380330500	RAPSN	c.704T>G (p.Ile235Ser) c.545T>G (p.Ile182Ser)
11	g.47441908A>G	CA380330505	RAPSN	c.704T>C (p.Ile235Thr) c.545T>C (p.Ile182Thr)	dbSNP gnomAD v4
11	g.47441908A>T	CA380330499	RAPSN	c.704T>A (p.Ile235Asn) c.545T>A (p.Ile182Asn)
11	g.47441909T>A	CA380330514	RAPSN	c.703A>T (p.Ile235Phe) c.544A>T (p.Ile182Phe)	dbSNP gnomAD v3 gnomAD v4
11	g.47441909T>C	CA380330511	RAPSN	c.703A>G (p.Ile235Val) c.544A>G (p.Ile182Val)	gnomAD v4
11	g.47441909T>G	CA380330518	RAPSN	c.703A>C (p.Ile235Leu) c.544A>C (p.Ile182Leu)
11	g.47441909T=	CA1969387727	RAPSN	c.703A= (p.Ile235=) c.544A= (p.Ile182=)
11	g.47441910C>A	CA380330521	RAPSN	c.702G>T (p.Lys234Asn) c.543G>T (p.Lys181Asn)	gnomAD v4
11	g.47441910C>G	CA380330523	RAPSN	c.702G>C (p.Lys234Asn) c.543G>C (p.Lys181Asn)	gnomAD v4
11	g.47441910C>T	CA474218481	RAPSN	c.702G>A (p.Lys234=) c.543G>A (p.Lys181=)	gnomAD v4
11	g.47441911T>A	CA380330526	RAPSN	c.701A>T (p.Lys234Met) c.542A>T (p.Lys181Met)
11	g.47441911T>C	CA380330529	RAPSN	c.701A>G (p.Lys234Arg) c.542A>G (p.Lys181Arg)	gnomAD v4
11	g.47441911T>G	CA380330532	RAPSN	c.701A>C (p.Lys234Thr) c.542A>C (p.Lys181Thr)
11	g.47441912T>A	CA380330539	RAPSN	c.700A>T (p.Lys234Ter) c.541A>T (p.Lys181Ter)	gnomAD v4
11	g.47441912T>C	CA380330543	RAPSN	c.700A>G (p.Lys234Glu) c.541A>G (p.Lys181Glu)	gnomAD v4
11	g.47441912T>G	CA380330547	RAPSN	c.700A>C (p.Lys234Gln) c.541A>C (p.Lys181Gln)
11	g.47441913C>A	CA380330558	RAPSN	c.699G>T (p.Met233Ile) c.540G>T (p.Met180Ile)	gnomAD v4
11	g.47441913C>G	CA380330556	RAPSN	c.699G>C (p.Met233Ile) c.540G>C (p.Met180Ile)	gnomAD v4
11	g.47441913C>T	CA380330551	RAPSN	c.699G>A (p.Met233Ile) c.540G>A (p.Met180Ile)	gnomAD v4
11	g.47441914A=	CA1969387728	RAPSN	c.698T= (p.Met233=) c.539T= (p.Met180=)
11	g.47441914A>C	CA380330560	RAPSN	c.698T>G (p.Met233Arg) c.539T>G (p.Met180Arg)
11	g.47441914A>G	CA221716853	RAPSN	c.698T>C (p.Met233Thr) c.539T>C (p.Met180Thr)	dbSNP gnomAD v4
11	g.47441914A>T	CA380330565	RAPSN	c.698T>A (p.Met233Lys) c.539T>A (p.Met180Lys)	gnomAD v4
11	g.47441915T>A	CA380330569	RAPSN	c.697A>T (p.Met233Leu) c.538A>T (p.Met180Leu)	gnomAD v4
11	g.47441915T>C	CA5976662	RAPSN	c.697A>G (p.Met233Val) c.538A>G (p.Met180Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.47441915T>G	CA380330573	RAPSN	c.697A>C (p.Met233Leu) c.538A>C (p.Met180Leu)
11	g.47441915T=	CA1969387729	RAPSN	c.697A= (p.Met233=) c.538A= (p.Met180=)
11	g.47441916A>C	CA474218497	RAPSN	c.696T>G (p.Ser232=) c.537T>G (p.Ser179=)
11	g.47441916A>G	CA474218498	RAPSN	c.696T>C (p.Ser232=) c.537T>C (p.Ser179=)	gnomAD v4
11	g.47441916A>T	CA474218501	RAPSN	c.696T>A (p.Ser232=) c.537T>A (p.Ser179=)
11	g.47441917G>A	CA380330576	RAPSN	c.695C>T (p.Ser232Phe) c.536C>T (p.Ser179Phe)
11	g.47441917G>C	CA380330582	RAPSN	c.695C>G (p.Ser232Cys) c.536C>G (p.Ser179Cys)	gnomAD v4
11	g.47441917G>T	CA380330580	RAPSN	c.695C>A (p.Ser232Tyr) c.536C>A (p.Ser179Tyr)	gnomAD v4
11	g.47441918A>C	CA380330587	RAPSN	c.694T>G (p.Ser232Ala) c.535T>G (p.Ser179Ala)
11	g.47441918A>G	CA380330601	RAPSN	c.694T>C (p.Ser232Pro) c.535T>C (p.Ser179Pro)
11	g.47441918A>T	CA380330605	RAPSN	c.694T>A (p.Ser232Thr) c.535T>A (p.Ser179Thr)	gnomAD v4
11	g.47441919C>A	CA380330608	RAPSN	c.693G>T (p.Glu231Asp) c.534G>T (p.Glu178Asp)	gnomAD v4
11	g.47441919C=	CA1969387730	RAPSN	c.693G= (p.Glu231=) c.534G= (p.Glu178=)
11	g.47441919C>G	CA380330611	RAPSN	c.693G>C (p.Glu231Asp) c.534G>C (p.Glu178Asp)	gnomAD v4
11	g.47441919C>T	CA474218511	RAPSN	c.693G>A (p.Glu231=) c.534G>A (p.Glu178=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11	g.47441920T>A	CA380330617	RAPSN	c.692A>T (p.Glu231Val) c.533A>T (p.Glu178Val)	COSMIC
11	g.47441920T>C	CA380330623	RAPSN	c.692A>G (p.Glu231Gly) c.533A>G (p.Glu178Gly)
11	g.47441920T>G	CA380330626	RAPSN	c.692A>C (p.Glu231Ala) c.533A>C (p.Glu178Ala)
11	g.47441921C>A	CA380330629	RAPSN	c.691G>T (p.Glu231Ter) c.532G>T (p.Glu178Ter)	gnomAD v4
11	g.47441921C>G	CA380330630	RAPSN	c.691G>C (p.Glu231Gln) c.532G>C (p.Glu178Gln)
11	g.47441921C>T	CA380330631	RAPSN	c.691G>A (p.Glu231Lys) c.532G>A (p.Glu178Lys)	gnomAD v3 gnomAD v4
11	g.47441922C>A	CA380330632	RAPSN	c.691-1G>T (n.691-1G>T) c.532-1G>T (n.532-1G>T)	dbSNP gnomAD v4
11	g.47441922C=	CA1969387731	RAPSN	c.691-1G= (n.691-1G=) c.532-1G= (n.532-1G=)
11	g.47441922C>G	CA380330636	RAPSN	c.691-1G>C (n.691-1G>C) c.532-1G>C (n.532-1G>C)	gnomAD v4
11	g.47441922C>T	CA380330635	RAPSN	c.691-1G>A (n.691-1G>A) c.532-1G>A (n.532-1G>A)	ClinVar
11	g.47441923T>A	CA380330639	RAPSN	c.691-2A>T (n.691-2A>T) c.532-2A>T (n.532-2A>T)	gnomAD v4
11	g.47441923T>C	CA380330640	RAPSN	c.691-2A>G (n.691-2A>G) c.532-2A>G (n.532-2A>G)	gnomAD v4
11	g.47441923T>G	CA380330642	RAPSN	c.691-2A>C (n.691-2A>C) c.532-2A>C (n.532-2A>C)
11	g.47441924G>A	CA2613404152	RAPSN	c.691-3C>T (n.691-3C>T) c.532-3C>T (n.532-3C>T)	gnomAD v4
11	g.47441924G=	CA1969387732	RAPSN	c.691-3C= (n.691-3C=) c.532-3C= (n.532-3C=)
11	g.47441924G>T	CA599374855	RAPSN	c.691-3C>A (n.691-3C>A) c.532-3C>A (n.532-3C>A)	dbSNP gnomAD v2 gnomAD v4
11	g.47441925_47441926del	CA2613404148	RAPSN	c.691-4_691-3del (n.691-4_691-3del) c.532-4_532-3del (n.532-4_532-3del)	gnomAD v4
11	g.47441924_47441950delinsGCGAGGGAGGCCAGTGGCTCAGGCCTA	CA1969387733	RAPSN	c.691-29_691-3delinsTAGGCCTGAGCCACTGGCCTCCCTCGC (n.691-29_691-3delinsTAGGCCTGAGCCACTGGCCTCCCTCGC) c.532-29_532-3delinsTAGGCCTGAGCCACTGGCCTCCCTCGC (n.532-29_532-3delinsTAGGCCTGAGCCACTGGCCTCCCTCGC)
11	g.47441925C>A	CA10638749	RAPSN	c.691-4G>T (n.691-4G>T) c.532-4G>T (n.532-4G>T)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11	g.47441925C=	CA1969387734	RAPSN	c.691-4G= (n.691-4G=) c.532-4G= (n.532-4G=)
11	g.47441925C>G	CA2613404160	RAPSN	c.691-4G>C (n.691-4G>C) c.532-4G>C (n.532-4G>C)	gnomAD v4
11	g.47441925C>T	CA677010615	RAPSN	c.691-4G>A (n.691-4G>A) c.532-4G>A (n.532-4G>A)	ClinVar dbSNP gnomAD v3 gnomAD v4
11	g.47441926_47441951del	CA937663907	RAPSN	c.691-29_691-4del (n.691-29_691-4del) c.532-29_532-4del (n.532-29_532-4del)	dbSNP gnomAD v3 gnomAD v4
11	g.47441926G>A	CA599374856	RAPSN	c.691-5C>T (n.691-5C>T) c.532-5C>T (n.532-5C>T)	ClinVar dbSNP gnomAD v2 gnomAD v4
11	g.47441926G=	CA1969387735	RAPSN	c.691-5C= (n.691-5C=) c.532-5C= (n.532-5C=)
11	g.47441926G>T	CA599374857	RAPSN	c.691-5C>A (n.691-5C>A) c.532-5C>A (n.532-5C>A)	dbSNP gnomAD v2 gnomAD v4
11	g.47441927A>G	CA2613404173	RAPSN	c.691-6T>C (n.691-6T>C) c.532-6T>C (n.532-6T>C)	gnomAD v4
11	g.47441927A>T	CA2613404179	RAPSN	c.691-6T>A (n.691-6T>A) c.532-6T>A (n.532-6T>A)	gnomAD v4
11	g.47441927_47441928delinsAG	CA1969387736	RAPSN	c.691-7_691-6delinsCT (n.691-7_691-6delinsCT) c.532-7_532-6delinsCT (n.532-7_532-6delinsCT)
11	g.47441928G>T	CA2573147335	RAPSN	c.691-7C>A (n.691-7C>A) c.532-7C>A (n.532-7C>A)	ClinVar dbSNP gnomAD v4
11	g.47441930del	CA5976663	RAPSN	c.691-7del (n.691-7del) c.532-7del (n.532-7del)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11	g.47441929G>A	CA599374859	RAPSN	c.691-8C>T (n.691-8C>T) c.532-8C>T (n.532-8C>T)	dbSNP gnomAD v2 gnomAD v4
11	g.47441929G=	CA1969387737	RAPSN	c.691-8C= (n.691-8C=) c.532-8C= (n.532-8C=)
11	g.47441929G>T	CA2613404198	RAPSN	c.691-8C>A (n.691-8C>A) c.532-8C>A (n.532-8C>A)	gnomAD v4
11	g.47441930G>A	CA1969387740	RAPSN	c.691-9C>T (n.691-9C>T) c.532-9C>T (n.532-9C>T)	dbSNP
11	g.47441930G>C	CA2613404204	RAPSN	c.691-9C>G (n.691-9C>G) c.532-9C>G (n.532-9C>G)	gnomAD v4
11	g.47441930G=	CA1969387739	RAPSN	c.691-9C= (n.691-9C=) c.532-9C= (n.532-9C=)
11	g.47441930G>T	CA2613404205	RAPSN	c.691-9C>A (n.691-9C>A) c.532-9C>A (n.532-9C>A)	gnomAD v4
11	g.47441930_47441931delinsGA	CA1969387738	RAPSN	c.691-10_691-9delinsTC (n.691-10_691-9delinsTC) c.532-10_532-9delinsTC (n.532-10_532-9delinsTC)
11	g.47441931del	CA599374860	RAPSN	c.691-10del (n.691-10del) c.532-10del (n.532-10del)	ClinVar dbSNP gnomAD v2 gnomAD v4
11	g.47441931A=	CA2742038533	RAPSN	c.691-10T= (n.691-10T=) c.532-10T= (n.532-10T=)
11	g.47441931_47441932delinsAG	CA1969387742	RAPSN	c.691-11_691-10delinsCT (n.691-11_691-10delinsCT) c.532-11_532-10delinsCT (n.532-11_532-10delinsCT)
11	g.47441931_47441933delinsAGG	CA1969387741	RAPSN	c.691-12_691-10delinsCCT (n.691-12_691-10delinsCCT) c.532-12_532-10delinsCCT (n.532-12_532-10delinsCCT)

Number of alleles fetched