Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
1	g.6451975_6451995del	CA2574193541	ESPN	c.234_254del c.506_526del (p.Asp169_Thr176delinsAla) c.272_292del (p.Asp91_Thr98delinsAla) c.259_279del c.2204_2224del (p.Asp735_Thr742delinsAla) c.329_349del (p.Asp110_Thr117delinsAla) c.269_289del (p.Asp90_Thr97delinsAla) n.259_279del c.353_373del (p.Asp118_Thr125delinsAla) c.2141_2161del (p.Asp714_Thr721delinsAla) c.2114_2134del (p.Asp705_Thr712delinsAla) c.1745_1765del (p.Asp582_Thr589delinsAla) c.1082_1102del (p.Asp361_Thr368delinsAla)	gnomAD v4
1	g.6451992C>A	CA338099654	ESPN	c.251C>A c.523C>A (p.Pro175Thr) c.289C>A (p.Pro97Thr) c.276C>A c.2221C>A (p.Pro741Thr) c.346C>A (p.Pro116Thr) c.286C>A (p.Pro96Thr) n.276C>A c.370C>A (p.Pro124Thr) c.2158C>A (p.Pro720Thr) c.2131C>A (p.Pro711Thr) c.1762C>A (p.Pro588Thr) c.1099C>A (p.Pro367Thr)
1	g.6451992C=	CA1151533706	ESPN	c.251C= c.523C= (p.Pro175=) c.289C= (p.Pro97=) c.276C= c.2221C= (p.Pro741=) c.346C= (p.Pro116=) c.286C= (p.Pro96=) n.276C= c.370C= (p.Pro124=) c.2158C= (p.Pro720=) c.2131C= (p.Pro711=) c.1762C= (p.Pro588=) c.1099C= (p.Pro367=)
1	g.6451992C>G	CA338099653	ESPN	c.251C>G c.523C>G (p.Pro175Ala) c.289C>G (p.Pro97Ala) c.276C>G c.2221C>G (p.Pro741Ala) c.346C>G (p.Pro116Ala) c.286C>G (p.Pro96Ala) n.276C>G c.370C>G (p.Pro124Ala) c.2158C>G (p.Pro720Ala) c.2131C>G (p.Pro711Ala) c.1762C>G (p.Pro588Ala) c.1099C>G (p.Pro367Ala)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1	g.6451992C>T	CA338099651	ESPN	c.251C>T c.523C>T (p.Pro175Ser) c.289C>T (p.Pro97Ser) c.276C>T c.2221C>T (p.Pro741Ser) c.346C>T (p.Pro116Ser) c.286C>T (p.Pro96Ser) n.276C>T c.370C>T (p.Pro124Ser) c.2158C>T (p.Pro720Ser) c.2131C>T (p.Pro711Ser) c.1762C>T (p.Pro588Ser) c.1099C>T (p.Pro367Ser)	COSMIC
1	g.6451993C>A	CA338099661	ESPN	c.252C>A c.524C>A (p.Pro175His) c.290C>A (p.Pro97His) c.277C>A c.2222C>A (p.Pro741His) c.347C>A (p.Pro116His) c.287C>A (p.Pro96His) n.277C>A c.371C>A (p.Pro124His) c.2159C>A (p.Pro720His) c.2132C>A (p.Pro711His) c.1763C>A (p.Pro588His) c.1100C>A (p.Pro367His)
1	g.6451993C>G	CA338099663	ESPN	c.252C>G c.524C>G (p.Pro175Arg) c.290C>G (p.Pro97Arg) c.277C>G c.2222C>G (p.Pro741Arg) c.347C>G (p.Pro116Arg) c.287C>G (p.Pro96Arg) n.277C>G c.371C>G (p.Pro124Arg) c.2159C>G (p.Pro720Arg) c.2132C>G (p.Pro711Arg) c.1763C>G (p.Pro588Arg) c.1100C>G (p.Pro367Arg)
1	g.6451993C>T	CA338099664	ESPN	c.252C>T c.524C>T (p.Pro175Leu) c.290C>T (p.Pro97Leu) c.277C>T c.2222C>T (p.Pro741Leu) c.347C>T (p.Pro116Leu) c.287C>T (p.Pro96Leu) n.277C>T c.371C>T (p.Pro124Leu) c.2159C>T (p.Pro720Leu) c.2132C>T (p.Pro711Leu) c.1763C>T (p.Pro588Leu) c.1100C>T (p.Pro367Leu)	gnomAD v4
1	g.6451994C>A	CA416021272	ESPN	c.253C>A c.525C>A (p.Pro175=) c.291C>A (p.Pro97=) c.278C>A c.2223C>A (p.Pro741=) c.348C>A (p.Pro116=) c.288C>A (p.Pro96=) n.278C>A c.372C>A (p.Pro124=) c.2160C>A (p.Pro720=) c.2133C>A (p.Pro711=) c.1764C>A (p.Pro588=) c.1101C>A (p.Pro367=)	gnomAD v4
1	g.6451994C=	CA1151533710	ESPN	c.253C= c.525C= (p.Pro175=) c.291C= (p.Pro97=) c.278C= c.2223C= (p.Pro741=) c.348C= (p.Pro116=) c.288C= (p.Pro96=) n.278C= c.372C= (p.Pro124=) c.2160C= (p.Pro720=) c.2133C= (p.Pro711=) c.1764C= (p.Pro588=) c.1101C= (p.Pro367=)
1	g.6451994C>G	CA416021274	ESPN	c.253C>G c.525C>G (p.Pro175=) c.291C>G (p.Pro97=) c.278C>G c.2223C>G (p.Pro741=) c.348C>G (p.Pro116=) c.288C>G (p.Pro96=) n.278C>G c.372C>G (p.Pro124=) c.2160C>G (p.Pro720=) c.2133C>G (p.Pro711=) c.1764C>G (p.Pro588=) c.1101C>G (p.Pro367=)
1	g.6451994C>T	CA560425	ESPN	c.253C>T c.525C>T (p.Pro175=) c.291C>T (p.Pro97=) c.278C>T c.2223C>T (p.Pro741=) c.348C>T (p.Pro116=) c.288C>T (p.Pro96=) n.278C>T c.372C>T (p.Pro124=) c.2160C>T (p.Pro720=) c.2133C>T (p.Pro711=) c.1764C>T (p.Pro588=) c.1101C>T (p.Pro367=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1	g.6451995A=	CA1151533713	ESPN	c.254A= c.526A= (p.Thr176=) c.292A= (p.Thr98=) c.279A= c.2224A= (p.Thr742=) c.349A= (p.Thr117=) c.289A= (p.Thr97=) n.279A= c.373A= (p.Thr125=) c.2161A= (p.Thr721=) c.2134A= (p.Thr712=) c.1765A= (p.Thr589=) c.1102A= (p.Thr368=)
1	g.6451995A>C	CA338099668	ESPN	c.254A>C c.526A>C (p.Thr176Pro) c.292A>C (p.Thr98Pro) c.279A>C c.2224A>C (p.Thr742Pro) c.349A>C (p.Thr117Pro) c.289A>C (p.Thr97Pro) n.279A>C c.373A>C (p.Thr125Pro) c.2161A>C (p.Thr721Pro) c.2134A>C (p.Thr712Pro) c.1765A>C (p.Thr589Pro) c.1102A>C (p.Thr368Pro)	dbSNP gnomAD v2 gnomAD v4
1	g.6451995A>G	CA338099670	ESPN	c.254A>G c.526A>G (p.Thr176Ala) c.292A>G (p.Thr98Ala) c.279A>G c.2224A>G (p.Thr742Ala) c.349A>G (p.Thr117Ala) c.289A>G (p.Thr97Ala) n.279A>G c.373A>G (p.Thr125Ala) c.2161A>G (p.Thr721Ala) c.2134A>G (p.Thr712Ala) c.1765A>G (p.Thr589Ala) c.1102A>G (p.Thr368Ala)	gnomAD v4
1	g.6451995A>T	CA338099671	ESPN	c.254A>T c.526A>T (p.Thr176Ser) c.292A>T (p.Thr98Ser) c.279A>T c.2224A>T (p.Thr742Ser) c.349A>T (p.Thr117Ser) c.289A>T (p.Thr97Ser) n.279A>T c.373A>T (p.Thr125Ser) c.2161A>T (p.Thr721Ser) c.2134A>T (p.Thr712Ser) c.1765A>T (p.Thr589Ser) c.1102A>T (p.Thr368Ser)
1	g.6451996C>A	CA338099674	ESPN	c.255C>A c.527C>A (p.Thr176Lys) c.293C>A (p.Thr98Lys) c.280C>A c.2225C>A (p.Thr742Lys) c.350C>A (p.Thr117Lys) c.290C>A (p.Thr97Lys) n.280C>A c.374C>A (p.Thr125Lys) c.2162C>A (p.Thr721Lys) c.2135C>A (p.Thr712Lys) c.1766C>A (p.Thr589Lys) c.1103C>A (p.Thr368Lys)	dbSNP gnomAD v2
1	g.6451996C=	CA1151533716	ESPN	c.255C= c.527C= (p.Thr176=) c.293C= (p.Thr98=) c.280C= c.2225C= (p.Thr742=) c.350C= (p.Thr117=) c.290C= (p.Thr97=) n.280C= c.374C= (p.Thr125=) c.2162C= (p.Thr721=) c.2135C= (p.Thr712=) c.1766C= (p.Thr589=) c.1103C= (p.Thr368=)
1	g.6451996C>G	CA338099675	ESPN	c.255C>G c.527C>G (p.Thr176Arg) c.293C>G (p.Thr98Arg) c.280C>G c.2225C>G (p.Thr742Arg) c.350C>G (p.Thr117Arg) c.290C>G (p.Thr97Arg) n.280C>G c.374C>G (p.Thr125Arg) c.2162C>G (p.Thr721Arg) c.2135C>G (p.Thr712Arg) c.1766C>G (p.Thr589Arg) c.1103C>G (p.Thr368Arg)
1	g.6451996C>T	CA560426	ESPN	c.255C>T c.527C>T (p.Thr176Met) c.293C>T (p.Thr98Met) c.280C>T c.2225C>T (p.Thr742Met) c.350C>T (p.Thr117Met) c.290C>T (p.Thr97Met) n.280C>T c.374C>T (p.Thr125Met) c.2162C>T (p.Thr721Met) c.2135C>T (p.Thr712Met) c.1766C>T (p.Thr589Met) c.1103C>T (p.Thr368Met)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1	g.6451997G>A	CA560427	ESPN	c.256G>A c.528G>A (p.Thr176=) c.294G>A (p.Thr98=) c.281G>A c.2226G>A (p.Thr742=) c.351G>A (p.Thr117=) c.291G>A (p.Thr97=) n.281G>A c.375G>A (p.Thr125=) c.2163G>A (p.Thr721=) c.2136G>A (p.Thr712=) c.1767G>A (p.Thr589=) c.1104G>A (p.Thr368=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1	g.6451997G>C	CA416021279	ESPN	c.256G>C c.528G>C (p.Thr176=) c.294G>C (p.Thr98=) c.281G>C c.2226G>C (p.Thr742=) c.351G>C (p.Thr117=) c.291G>C (p.Thr97=) n.281G>C c.375G>C (p.Thr125=) c.2163G>C (p.Thr721=) c.2136G>C (p.Thr712=) c.1767G>C (p.Thr589=) c.1104G>C (p.Thr368=)	dbSNP gnomAD v3 gnomAD v4
1	g.6451997G=	CA1151533721	ESPN	c.256G= c.528G= (p.Thr176=) c.294G= (p.Thr98=) c.281G= c.2226G= (p.Thr742=) c.351G= (p.Thr117=) c.291G= (p.Thr97=) n.281G= c.375G= (p.Thr125=) c.2163G= (p.Thr721=) c.2136G= (p.Thr712=) c.1767G= (p.Thr589=) c.1104G= (p.Thr368=)
1	g.6451997G>T	CA416021281	ESPN	c.256G>T c.528G>T (p.Thr176=) c.294G>T (p.Thr98=) c.281G>T c.2226G>T (p.Thr742=) c.351G>T (p.Thr117=) c.291G>T (p.Thr97=) n.281G>T c.375G>T (p.Thr125=) c.2163G>T (p.Thr721=) c.2136G>T (p.Thr712=) c.1767G>T (p.Thr589=) c.1104G>T (p.Thr368=)	gnomAD v4
1	g.6451998C>A	CA338099679	ESPN	c.257C>A c.529C>A (p.His177Asn) c.295C>A (p.His99Asn) c.282C>A c.2227C>A (p.His743Asn) c.352C>A (p.His118Asn) c.292C>A (p.His98Asn) n.282C>A c.376C>A (p.His126Asn) c.2164C>A (p.His722Asn) c.2137C>A (p.His713Asn) c.1768C>A (p.His590Asn) c.1105C>A (p.His369Asn)
1	g.6451998C=	CA1151533727	ESPN	c.257C= c.529C= (p.His177=) c.295C= (p.His99=) c.282C= c.2227C= (p.His743=) c.352C= (p.His118=) c.292C= (p.His98=) n.282C= c.376C= (p.His126=) c.2164C= (p.His722=) c.2137C= (p.His713=) c.1768C= (p.His590=) c.1105C= (p.His369=)
1	g.6451998C>G	CA338099680	ESPN	c.257C>G c.529C>G (p.His177Asp) c.295C>G (p.His99Asp) c.282C>G c.2227C>G (p.His743Asp) c.352C>G (p.His118Asp) c.292C>G (p.His98Asp) n.282C>G c.376C>G (p.His126Asp) c.2164C>G (p.His722Asp) c.2137C>G (p.His713Asp) c.1768C>G (p.His590Asp) c.1105C>G (p.His369Asp)
1	g.6451998C>T	CA338099682	ESPN	c.257C>T c.529C>T (p.His177Tyr) c.295C>T (p.His99Tyr) c.282C>T c.2227C>T (p.His743Tyr) c.352C>T (p.His118Tyr) c.292C>T (p.His98Tyr) n.282C>T c.376C>T (p.His126Tyr) c.2164C>T (p.His722Tyr) c.2137C>T (p.His713Tyr) c.1768C>T (p.His590Tyr) c.1105C>T (p.His369Tyr)	dbSNP gnomAD v2
1	g.6451999A>C	CA338099685	ESPN	c.258A>C c.530A>C (p.His177Pro) c.296A>C (p.His99Pro) c.283A>C c.2228A>C (p.His743Pro) c.353A>C (p.His118Pro) c.293A>C (p.His98Pro) n.283A>C c.377A>C (p.His126Pro) c.2165A>C (p.His722Pro) c.2138A>C (p.His713Pro) c.1769A>C (p.His590Pro) c.1106A>C (p.His369Pro)	gnomAD v4
1	g.6451999A>G	CA338099688	ESPN	c.258A>G c.530A>G (p.His177Arg) c.296A>G (p.His99Arg) c.283A>G c.2228A>G (p.His743Arg) c.353A>G (p.His118Arg) c.293A>G (p.His98Arg) n.283A>G c.377A>G (p.His126Arg) c.2165A>G (p.His722Arg) c.2138A>G (p.His713Arg) c.1769A>G (p.His590Arg) c.1106A>G (p.His369Arg)
1	g.6451999A>T	CA338099686	ESPN	c.258A>T c.530A>T (p.His177Leu) c.296A>T (p.His99Leu) c.283A>T c.2228A>T (p.His743Leu) c.353A>T (p.His118Leu) c.293A>T (p.His98Leu) n.283A>T c.377A>T (p.His126Leu) c.2165A>T (p.His722Leu) c.2138A>T (p.His713Leu) c.1769A>T (p.His590Leu) c.1106A>T (p.His369Leu)
1	g.6452000C>A	CA338099691	ESPN	c.259C>A c.531C>A (p.His177Gln) c.297C>A (p.His99Gln) c.284C>A c.2229C>A (p.His743Gln) c.354C>A (p.His118Gln) c.294C>A (p.His98Gln) n.284C>A c.378C>A (p.His126Gln) c.2166C>A (p.His722Gln) c.2139C>A (p.His713Gln) c.1770C>A (p.His590Gln) c.1107C>A (p.His369Gln)
1	g.6452000C=	CA1142022238	ESPN	c.259C= c.531C= (p.His177=) c.297C= (p.His99=) c.284C= c.2229C= (p.His743=) c.354C= (p.His118=) c.294C= (p.His98=) n.284C= c.378C= (p.His126=) c.2166C= (p.His722=) c.2139C= (p.His713=) c.1770C= (p.His590=) c.1107C= (p.His369=)
1	g.6452000C>G	CA338099692	ESPN	c.259C>G c.531C>G (p.His177Gln) c.297C>G (p.His99Gln) c.284C>G c.2229C>G (p.His743Gln) c.354C>G (p.His118Gln) c.294C>G (p.His98Gln) n.284C>G c.378C>G (p.His126Gln) c.2166C>G (p.His722Gln) c.2139C>G (p.His713Gln) c.1770C>G (p.His590Gln) c.1107C>G (p.His369Gln)	gnomAD v4
1	g.6452000C>T	CA560428	ESPN	c.259C>T c.531C>T (p.His177=) c.297C>T (p.His99=) c.284C>T c.2229C>T (p.His743=) c.354C>T (p.His118=) c.294C>T (p.His98=) n.284C>T c.378C>T (p.His126=) c.2166C>T (p.His722=) c.2139C>T (p.His713=) c.1770C>T (p.His590=) c.1107C>T (p.His369=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1	g.6452001G>A	CA116850	ESPN	c.260G>A c.532G>A (p.Asp178Asn) c.298G>A (p.Asp100Asn) c.285G>A c.2230G>A (p.Asp744Asn) c.355G>A (p.Asp119Asn) c.295G>A (p.Asp99Asn) n.285G>A c.379G>A (p.Asp127Asn) c.2167G>A (p.Asp723Asn) c.2140G>A (p.Asp714Asn) c.1771G>A (p.Asp591Asn) c.1108G>A (p.Asp370Asn)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1	g.6452001G>C	CA338099696	ESPN	c.260G>C c.532G>C (p.Asp178His) c.298G>C (p.Asp100His) c.285G>C c.2230G>C (p.Asp744His) c.355G>C (p.Asp119His) c.295G>C (p.Asp99His) n.285G>C c.379G>C (p.Asp127His) c.2167G>C (p.Asp723His) c.2140G>C (p.Asp714His) c.1771G>C (p.Asp591His) c.1108G>C (p.Asp370His)	dbSNP gnomAD v4
1	g.6452001G=	CA1141580551	ESPN	c.260G= c.532G= (p.Asp178=) c.298G= (p.Asp100=) c.285G= c.2230G= (p.Asp744=) c.355G= (p.Asp119=) c.295G= (p.Asp99=) n.285G= c.379G= (p.Asp127=) c.2167G= (p.Asp723=) c.2140G= (p.Asp714=) c.1771G= (p.Asp591=) c.1108G= (p.Asp370=)
1	g.6452001G>T	CA560429	ESPN	c.260G>T c.532G>T (p.Asp178Tyr) c.298G>T (p.Asp100Tyr) c.285G>T c.2230G>T (p.Asp744Tyr) c.355G>T (p.Asp119Tyr) c.295G>T (p.Asp99Tyr) n.285G>T c.379G>T (p.Asp127Tyr) c.2167G>T (p.Asp723Tyr) c.2140G>T (p.Asp714Tyr) c.1771G>T (p.Asp591Tyr) c.1108G>T (p.Asp370Tyr)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1	g.6452002A=	CA1148280784	ESPN	c.261A= c.533A= (p.Asp178=) c.299A= (p.Asp100=) c.286A= c.2231A= (p.Asp744=) c.356A= (p.Asp119=) c.296A= (p.Asp99=) n.286A= c.380A= (p.Asp127=) c.2168A= (p.Asp723=) c.2141A= (p.Asp714=) c.1772A= (p.Asp591=) c.1109A= (p.Asp370=)
1	g.6452002A>C	CA338099703	ESPN	c.261A>C c.533A>C (p.Asp178Ala) c.299A>C (p.Asp100Ala) c.286A>C c.2231A>C (p.Asp744Ala) c.356A>C (p.Asp119Ala) c.296A>C (p.Asp99Ala) n.286A>C c.380A>C (p.Asp127Ala) c.2168A>C (p.Asp723Ala) c.2141A>C (p.Asp714Ala) c.1772A>C (p.Asp591Ala) c.1109A>C (p.Asp370Ala)
1	g.6452002A>G	CA560430	ESPN	c.261A>G c.533A>G (p.Asp178Gly) c.299A>G (p.Asp100Gly) c.286A>G c.2231A>G (p.Asp744Gly) c.356A>G (p.Asp119Gly) c.296A>G (p.Asp99Gly) n.286A>G c.380A>G (p.Asp127Gly) c.2168A>G (p.Asp723Gly) c.2141A>G (p.Asp714Gly) c.1772A>G (p.Asp591Gly) c.1109A>G (p.Asp370Gly)	dbSNP ExAC gnomAD v2 gnomAD v4
1	g.6452002A>T	CA338099709	ESPN	c.261A>T c.533A>T (p.Asp178Val) c.299A>T (p.Asp100Val) c.286A>T c.2231A>T (p.Asp744Val) c.356A>T (p.Asp119Val) c.296A>T (p.Asp99Val) n.286A>T c.380A>T (p.Asp127Val) c.2168A>T (p.Asp723Val) c.2141A>T (p.Asp714Val) c.1772A>T (p.Asp591Val) c.1109A>T (p.Asp370Val)
1	g.6452003T>A	CA338099714	ESPN	c.262T>A c.534T>A (p.Asp178Glu) c.300T>A (p.Asp100Glu) c.287T>A c.2232T>A (p.Asp744Glu) c.357T>A (p.Asp119Glu) c.297T>A (p.Asp99Glu) n.287T>A c.381T>A (p.Asp127Glu) c.2169T>A (p.Asp723Glu) c.2142T>A (p.Asp714Glu) c.1773T>A (p.Asp591Glu) c.1110T>A (p.Asp370Glu)	gnomAD v4
1	g.6452003T>C	CA416021297	ESPN	c.262T>C c.534T>C (p.Asp178=) c.300T>C (p.Asp100=) c.287T>C c.2232T>C (p.Asp744=) c.357T>C (p.Asp119=) c.297T>C (p.Asp99=) n.287T>C c.381T>C (p.Asp127=) c.2169T>C (p.Asp723=) c.2142T>C (p.Asp714=) c.1773T>C (p.Asp591=) c.1110T>C (p.Asp370=)
1	g.6452003T>G	CA338099717	ESPN	c.262T>G c.534T>G (p.Asp178Glu) c.300T>G (p.Asp100Glu) c.287T>G c.2232T>G (p.Asp744Glu) c.357T>G (p.Asp119Glu) c.297T>G (p.Asp99Glu) n.287T>G c.381T>G (p.Asp127Glu) c.2169T>G (p.Asp723Glu) c.2142T>G (p.Asp714Glu) c.1773T>G (p.Asp591Glu) c.1110T>G (p.Asp370Glu)
1	g.6452004G>A	CA338099720	ESPN	c.263G>A c.535G>A (p.Glu179Lys) c.301G>A (p.Glu101Lys) c.288G>A c.2233G>A (p.Glu745Lys) c.358G>A (p.Glu120Lys) c.298G>A (p.Glu100Lys) n.288G>A c.382G>A (p.Glu128Lys) c.2170G>A (p.Glu724Lys) c.2143G>A (p.Glu715Lys) c.1774G>A (p.Glu592Lys) c.1111G>A (p.Glu371Lys)	dbSNP gnomAD v3 gnomAD v4
1	g.6452004G>C	CA338099729	ESPN	c.263G>C c.535G>C (p.Glu179Gln) c.301G>C (p.Glu101Gln) c.288G>C c.2233G>C (p.Glu745Gln) c.358G>C (p.Glu120Gln) c.298G>C (p.Glu100Gln) n.288G>C c.382G>C (p.Glu128Gln) c.2170G>C (p.Glu724Gln) c.2143G>C (p.Glu715Gln) c.1774G>C (p.Glu592Gln) c.1111G>C (p.Glu371Gln)
1	g.6452004G=	CA1151533739	ESPN	c.263G= c.535G= (p.Glu179=) c.301G= (p.Glu101=) c.288G= c.2233G= (p.Glu745=) c.358G= (p.Glu120=) c.298G= (p.Glu100=) n.288G= c.382G= (p.Glu128=) c.2170G= (p.Glu724=) c.2143G= (p.Glu715=) c.1774G= (p.Glu592=) c.1111G= (p.Glu371=)
1	g.6452004G>T	CA338099724	ESPN	c.263G>T c.535G>T (p.Glu179Ter) c.301G>T (p.Glu101Ter) c.288G>T c.2233G>T (p.Glu745Ter) c.358G>T (p.Glu120Ter) c.298G>T (p.Glu100Ter) n.288G>T c.382G>T (p.Glu128Ter) c.2170G>T (p.Glu724Ter) c.2143G>T (p.Glu715Ter) c.1774G>T (p.Glu592Ter) c.1111G>T (p.Glu371Ter)
1	g.6452005A>C	CA338099733	ESPN	c.264A>C c.536A>C (p.Glu179Ala) c.302A>C (p.Glu101Ala) c.289A>C c.2234A>C (p.Glu745Ala) c.359A>C (p.Glu120Ala) c.299A>C (p.Glu100Ala) n.289A>C c.383A>C (p.Glu128Ala) c.2171A>C (p.Glu724Ala) c.2144A>C (p.Glu715Ala) c.1775A>C (p.Glu592Ala) c.1112A>C (p.Glu371Ala)
1	g.6452005A>G	CA338099739	ESPN	c.264A>G c.536A>G (p.Glu179Gly) c.302A>G (p.Glu101Gly) c.289A>G c.2234A>G (p.Glu745Gly) c.359A>G (p.Glu120Gly) c.299A>G (p.Glu100Gly) n.289A>G c.383A>G (p.Glu128Gly) c.2171A>G (p.Glu724Gly) c.2144A>G (p.Glu715Gly) c.1775A>G (p.Glu592Gly) c.1112A>G (p.Glu371Gly)
1	g.6452005A>T	CA338099736	ESPN	c.264A>T c.536A>T (p.Glu179Val) c.302A>T (p.Glu101Val) c.289A>T c.2234A>T (p.Glu745Val) c.359A>T (p.Glu120Val) c.299A>T (p.Glu100Val) n.289A>T c.383A>T (p.Glu128Val) c.2171A>T (p.Glu724Val) c.2144A>T (p.Glu715Val) c.1775A>T (p.Glu592Val) c.1112A>T (p.Glu371Val)
1	g.6452006G>A	CA416021302	ESPN	c.265G>A c.537G>A (p.Glu179=) c.303G>A (p.Glu101=) c.290G>A c.2235G>A (p.Glu745=) c.360G>A (p.Glu120=) c.300G>A (p.Glu100=) n.290G>A c.384G>A (p.Glu128=) c.2172G>A (p.Glu724=) c.2145G>A (p.Glu715=) c.1776G>A (p.Glu592=) c.1113G>A (p.Glu371=)	dbSNP gnomAD v4
1	g.6452006G>C	CA338099741	ESPN	c.265G>C c.537G>C (p.Glu179Asp) c.303G>C (p.Glu101Asp) c.290G>C c.2235G>C (p.Glu745Asp) c.360G>C (p.Glu120Asp) c.300G>C (p.Glu100Asp) n.290G>C c.384G>C (p.Glu128Asp) c.2172G>C (p.Glu724Asp) c.2145G>C (p.Glu715Asp) c.1776G>C (p.Glu592Asp) c.1113G>C (p.Glu371Asp)
1	g.6452006G=	CA1151533743	ESPN	c.265G= c.537G= (p.Glu179=) c.303G= (p.Glu101=) c.290G= c.2235G= (p.Glu745=) c.360G= (p.Glu120=) c.300G= (p.Glu100=) n.290G= c.384G= (p.Glu128=) c.2172G= (p.Glu724=) c.2145G= (p.Glu715=) c.1776G= (p.Glu592=) c.1113G= (p.Glu371=)
1	g.6452006G>T	CA338099742	ESPN	c.265G>T c.537G>T (p.Glu179Asp) c.303G>T (p.Glu101Asp) c.290G>T c.2235G>T (p.Glu745Asp) c.360G>T (p.Glu120Asp) c.300G>T (p.Glu100Asp) n.290G>T c.384G>T (p.Glu128Asp) c.2172G>T (p.Glu724Asp) c.2145G>T (p.Glu715Asp) c.1776G>T (p.Glu592Asp) c.1113G>T (p.Glu371Asp)	gnomAD v4
1	g.6452007C>A	CA338099745	ESPN	c.266C>A c.538C>A (p.Gln180Lys) c.304C>A (p.Gln102Lys) c.291C>A c.2236C>A (p.Gln746Lys) c.361C>A (p.Gln121Lys) c.301C>A (p.Gln101Lys) n.291C>A c.385C>A (p.Gln129Lys) c.2173C>A (p.Gln725Lys) c.2146C>A (p.Gln716Lys) c.1777C>A (p.Gln593Lys) c.1114C>A (p.Gln372Lys)	gnomAD v4
1	g.6452007C>G	CA338099747	ESPN	c.266C>G c.538C>G (p.Gln180Glu) c.304C>G (p.Gln102Glu) c.291C>G c.2236C>G (p.Gln746Glu) c.361C>G (p.Gln121Glu) c.301C>G (p.Gln101Glu) n.291C>G c.385C>G (p.Gln129Glu) c.2173C>G (p.Gln725Glu) c.2146C>G (p.Gln716Glu) c.1777C>G (p.Gln593Glu) c.1114C>G (p.Gln372Glu)
1	g.6452007C>T	CA338099752	ESPN	c.266C>T c.538C>T (p.Gln180Ter) c.304C>T (p.Gln102Ter) c.291C>T c.2236C>T (p.Gln746Ter) c.361C>T (p.Gln121Ter) c.301C>T (p.Gln101Ter) n.291C>T c.385C>T (p.Gln129Ter) c.2173C>T (p.Gln725Ter) c.2146C>T (p.Gln716Ter) c.1777C>T (p.Gln593Ter) c.1114C>T (p.Gln372Ter)	gnomAD v4
1	g.6452008A>C	CA338099753	ESPN	c.267A>C c.539A>C (p.Gln180Pro) c.305A>C (p.Gln102Pro) c.292A>C c.2237A>C (p.Gln746Pro) c.362A>C (p.Gln121Pro) c.302A>C (p.Gln101Pro) n.292A>C c.386A>C (p.Gln129Pro) c.2174A>C (p.Gln725Pro) c.2147A>C (p.Gln716Pro) c.1778A>C (p.Gln593Pro) c.1115A>C (p.Gln372Pro)
1	g.6452008A>G	CA338099754	ESPN	c.267A>G c.539A>G (p.Gln180Arg) c.305A>G (p.Gln102Arg) c.292A>G c.2237A>G (p.Gln746Arg) c.362A>G (p.Gln121Arg) c.302A>G (p.Gln101Arg) n.292A>G c.386A>G (p.Gln129Arg) c.2174A>G (p.Gln725Arg) c.2147A>G (p.Gln716Arg) c.1778A>G (p.Gln593Arg) c.1115A>G (p.Gln372Arg)	gnomAD v4
1	g.6452008A>T	CA338099756	ESPN	c.267A>T c.539A>T (p.Gln180Leu) c.305A>T (p.Gln102Leu) c.292A>T c.2237A>T (p.Gln746Leu) c.362A>T (p.Gln121Leu) c.302A>T (p.Gln101Leu) n.292A>T c.386A>T (p.Gln129Leu) c.2174A>T (p.Gln725Leu) c.2147A>T (p.Gln716Leu) c.1778A>T (p.Gln593Leu) c.1115A>T (p.Gln372Leu)
1	g.6452009G>A	CA416021314	ESPN	c.268G>A c.540G>A (p.Gln180=) c.306G>A (p.Gln102=) c.293G>A c.2238G>A (p.Gln746=) c.363G>A (p.Gln121=) c.303G>A (p.Gln101=) n.293G>A c.387G>A (p.Gln129=) c.2175G>A (p.Gln725=) c.2148G>A (p.Gln716=) c.1779G>A (p.Gln593=) c.1116G>A (p.Gln372=)
1	g.6452009G>C	CA338099758	ESPN	c.268G>C c.540G>C (p.Gln180His) c.306G>C (p.Gln102His) c.293G>C c.2238G>C (p.Gln746His) c.363G>C (p.Gln121His) c.303G>C (p.Gln101His) n.293G>C c.387G>C (p.Gln129His) c.2175G>C (p.Gln725His) c.2148G>C (p.Gln716His) c.1779G>C (p.Gln593His) c.1116G>C (p.Gln372His)
1	g.6452009G>T	CA338099760	ESPN	c.268G>T c.540G>T (p.Gln180His) c.306G>T (p.Gln102His) c.293G>T c.2238G>T (p.Gln746His) c.363G>T (p.Gln121His) c.303G>T (p.Gln101His) n.293G>T c.387G>T (p.Gln129His) c.2175G>T (p.Gln725His) c.2148G>T (p.Gln716His) c.1779G>T (p.Gln593His) c.1116G>T (p.Gln372His)	gnomAD v4
1	g.6452010G>A	CA560431	ESPN	c.269G>A c.541G>A (p.Gly181Ser) c.307G>A (p.Gly103Ser) c.294G>A c.2239G>A (p.Gly747Ser) c.364G>A (p.Gly122Ser) c.304G>A (p.Gly102Ser) n.294G>A c.388G>A (p.Gly130Ser) c.2176G>A (p.Gly726Ser) c.2149G>A (p.Gly717Ser) c.1780G>A (p.Gly594Ser) c.1117G>A (p.Gly373Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1	g.6452010G>C	CA338099766	ESPN	c.269G>C c.541G>C (p.Gly181Arg) c.307G>C (p.Gly103Arg) c.294G>C c.2239G>C (p.Gly747Arg) c.364G>C (p.Gly122Arg) c.304G>C (p.Gly102Arg) n.294G>C c.388G>C (p.Gly130Arg) c.2176G>C (p.Gly726Arg) c.2149G>C (p.Gly717Arg) c.1780G>C (p.Gly594Arg) c.1117G>C (p.Gly373Arg)
1	g.6452010G=	CA1145764587	ESPN	c.269G= c.541G= (p.Gly181=) c.307G= (p.Gly103=) c.294G= c.2239G= (p.Gly747=) c.364G= (p.Gly122=) c.304G= (p.Gly102=) n.294G= c.388G= (p.Gly130=) c.2176G= (p.Gly726=) c.2149G= (p.Gly717=) c.1780G= (p.Gly594=) c.1117G= (p.Gly373=)
1	g.6452010G>T	CA338099769	ESPN	c.269G>T c.541G>T (p.Gly181Cys) c.307G>T (p.Gly103Cys) c.294G>T c.2239G>T (p.Gly747Cys) c.364G>T (p.Gly122Cys) c.304G>T (p.Gly102Cys) n.294G>T c.388G>T (p.Gly130Cys) c.2176G>T (p.Gly726Cys) c.2149G>T (p.Gly717Cys) c.1780G>T (p.Gly594Cys) c.1117G>T (p.Gly373Cys)
1	g.6452011G>A	CA338099776	ESPN	c.270G>A c.542G>A (p.Gly181Asp) c.308G>A (p.Gly103Asp) c.295G>A c.2240G>A (p.Gly747Asp) c.365G>A (p.Gly122Asp) c.305G>A (p.Gly102Asp) n.295G>A c.389G>A (p.Gly130Asp) c.2177G>A (p.Gly726Asp) c.2150G>A (p.Gly717Asp) c.1781G>A (p.Gly594Asp) c.1118G>A (p.Gly373Asp)	gnomAD v4
1	g.6452011G>C	CA338099774	ESPN	c.270G>C c.542G>C (p.Gly181Ala) c.308G>C (p.Gly103Ala) c.295G>C c.2240G>C (p.Gly747Ala) c.365G>C (p.Gly122Ala) c.305G>C (p.Gly102Ala) n.295G>C c.389G>C (p.Gly130Ala) c.2177G>C (p.Gly726Ala) c.2150G>C (p.Gly717Ala) c.1781G>C (p.Gly594Ala) c.1118G>C (p.Gly373Ala)
1	g.6452011G>T	CA338099772	ESPN	c.270G>T c.542G>T (p.Gly181Val) c.308G>T (p.Gly103Val) c.295G>T c.2240G>T (p.Gly747Val) c.365G>T (p.Gly122Val) c.305G>T (p.Gly102Val) n.295G>T c.389G>T (p.Gly130Val) c.2177G>T (p.Gly726Val) c.2150G>T (p.Gly717Val) c.1781G>T (p.Gly594Val) c.1118G>T (p.Gly373Val)	gnomAD v4
1	g.6452012C>A	CA416021322	ESPN	c.271C>A c.543C>A (p.Gly181=) c.309C>A (p.Gly103=) c.296C>A c.2241C>A (p.Gly747=) c.366C>A (p.Gly122=) c.306C>A (p.Gly102=) n.296C>A c.390C>A (p.Gly130=) c.2178C>A (p.Gly726=) c.2151C>A (p.Gly717=) c.1782C>A (p.Gly594=) c.1119C>A (p.Gly373=)	dbSNP gnomAD v4
1	g.6452012C=	CA1151533750	ESPN	c.271C= c.543C= (p.Gly181=) c.309C= (p.Gly103=) c.296C= c.2241C= (p.Gly747=) c.366C= (p.Gly122=) c.306C= (p.Gly102=) n.296C= c.390C= (p.Gly130=) c.2178C= (p.Gly726=) c.2151C= (p.Gly717=) c.1782C= (p.Gly594=) c.1119C= (p.Gly373=)
1	g.6452012C>G	CA416021319	ESPN	c.271C>G c.543C>G (p.Gly181=) c.309C>G (p.Gly103=) c.296C>G c.2241C>G (p.Gly747=) c.366C>G (p.Gly122=) c.306C>G (p.Gly102=) n.296C>G c.390C>G (p.Gly130=) c.2178C>G (p.Gly726=) c.2151C>G (p.Gly717=) c.1782C>G (p.Gly594=) c.1119C>G (p.Gly373=)
1	g.6452012C>T	CA416021318	ESPN	c.271C>T c.543C>T (p.Gly181=) c.309C>T (p.Gly103=) c.296C>T c.2241C>T (p.Gly747=) c.366C>T (p.Gly122=) c.306C>T (p.Gly102=) n.296C>T c.390C>T (p.Gly130=) c.2178C>T (p.Gly726=) c.2151C>T (p.Gly717=) c.1782C>T (p.Gly594=) c.1119C>T (p.Gly373=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1	g.6452013C>A	CA416021324	ESPN	c.272C>A c.544C>A (p.Arg182=) c.310C>A (p.Arg104=) c.297C>A c.2242C>A (p.Arg748=) c.367C>A (p.Arg123=) c.307C>A (p.Arg103=) n.297C>A c.391C>A (p.Arg131=) c.2179C>A (p.Arg727=) c.2152C>A (p.Arg718=) c.1783C>A (p.Arg595=) c.1120C>A (p.Arg374=)
1	g.6452013C=	CA1151533755	ESPN	c.272C= c.544C= (p.Arg182=) c.310C= (p.Arg104=) c.297C= c.2242C= (p.Arg748=) c.367C= (p.Arg123=) c.307C= (p.Arg103=) n.297C= c.391C= (p.Arg131=) c.2179C= (p.Arg727=) c.2152C= (p.Arg718=) c.1783C= (p.Arg595=) c.1120C= (p.Arg374=)
1	g.6452013C>G	CA338099778	ESPN	c.272C>G c.544C>G (p.Arg182Gly) c.310C>G (p.Arg104Gly) c.297C>G c.2242C>G (p.Arg748Gly) c.367C>G (p.Arg123Gly) c.307C>G (p.Arg103Gly) n.297C>G c.391C>G (p.Arg131Gly) c.2179C>G (p.Arg727Gly) c.2152C>G (p.Arg718Gly) c.1783C>G (p.Arg595Gly) c.1120C>G (p.Arg374Gly)
1	g.6452013C>T	CA338099780	ESPN	c.272C>T c.544C>T (p.Arg182Trp) c.310C>T (p.Arg104Trp) c.297C>T c.2242C>T (p.Arg748Trp) c.367C>T (p.Arg123Trp) c.307C>T (p.Arg103Trp) n.297C>T c.391C>T (p.Arg131Trp) c.2179C>T (p.Arg727Trp) c.2152C>T (p.Arg718Trp) c.1783C>T (p.Arg595Trp) c.1120C>T (p.Arg374Trp)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1	g.6452014G>A	CA560432	ESPN	c.273G>A c.545G>A (p.Arg182Gln) c.311G>A (p.Arg104Gln) c.298G>A c.2243G>A (p.Arg748Gln) c.368G>A (p.Arg123Gln) c.308G>A (p.Arg103Gln) n.298G>A c.392G>A (p.Arg131Gln) c.2180G>A (p.Arg727Gln) c.2153G>A (p.Arg718Gln) c.1784G>A (p.Arg595Gln) c.1121G>A (p.Arg374Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1	g.6452014G>C	CA338099784	ESPN	c.273G>C c.545G>C (p.Arg182Pro) c.311G>C (p.Arg104Pro) c.298G>C c.2243G>C (p.Arg748Pro) c.368G>C (p.Arg123Pro) c.308G>C (p.Arg103Pro) n.298G>C c.392G>C (p.Arg131Pro) c.2180G>C (p.Arg727Pro) c.2153G>C (p.Arg718Pro) c.1784G>C (p.Arg595Pro) c.1121G>C (p.Arg374Pro)
1	g.6452014G=	CA1151533759	ESPN	c.273G= c.545G= (p.Arg182=) c.311G= (p.Arg104=) c.298G= c.2243G= (p.Arg748=) c.368G= (p.Arg123=) c.308G= (p.Arg103=) n.298G= c.392G= (p.Arg131=) c.2180G= (p.Arg727=) c.2153G= (p.Arg718=) c.1784G= (p.Arg595=) c.1121G= (p.Arg374=)
1	g.6452014G>T	CA338099787	ESPN	c.273G>T c.545G>T (p.Arg182Leu) c.311G>T (p.Arg104Leu) c.298G>T c.2243G>T (p.Arg748Leu) c.368G>T (p.Arg123Leu) c.308G>T (p.Arg103Leu) n.298G>T c.392G>T (p.Arg131Leu) c.2180G>T (p.Arg727Leu) c.2153G>T (p.Arg718Leu) c.1784G>T (p.Arg595Leu) c.1121G>T (p.Arg374Leu)	gnomAD v4
1	g.6452015G>A	CA416021330	ESPN	c.274G>A c.546G>A (p.Arg182=) c.312G>A (p.Arg104=) c.299G>A c.2244G>A (p.Arg748=) c.369G>A (p.Arg123=) c.309G>A (p.Arg103=) n.299G>A c.393G>A (p.Arg131=) c.2181G>A (p.Arg727=) c.2154G>A (p.Arg718=) c.1785G>A (p.Arg595=) c.1122G>A (p.Arg374=)	gnomAD v4
1	g.6452015G>C	CA416021335	ESPN	c.274G>C c.546G>C (p.Arg182=) c.312G>C (p.Arg104=) c.299G>C c.2244G>C (p.Arg748=) c.369G>C (p.Arg123=) c.309G>C (p.Arg103=) n.299G>C c.393G>C (p.Arg131=) c.2181G>C (p.Arg727=) c.2154G>C (p.Arg718=) c.1785G>C (p.Arg595=) c.1122G>C (p.Arg374=)
1	g.6452015G>T	CA416021333	ESPN	c.274G>T c.546G>T (p.Arg182=) c.312G>T (p.Arg104=) c.299G>T c.2244G>T (p.Arg748=) c.369G>T (p.Arg123=) c.309G>T (p.Arg103=) n.299G>T c.393G>T (p.Arg131=) c.2181G>T (p.Arg727=) c.2154G>T (p.Arg718=) c.1785G>T (p.Arg595=) c.1122G>T (p.Arg374=)	gnomAD v4
1	g.6452016C>A	CA338099790	ESPN	c.275C>A c.547C>A (p.Pro183Thr) c.313C>A (p.Pro105Thr) c.300C>A c.2245C>A (p.Pro749Thr) c.370C>A (p.Pro124Thr) c.310C>A (p.Pro104Thr) n.300C>A c.394C>A (p.Pro132Thr) c.2182C>A (p.Pro728Thr) c.2155C>A (p.Pro719Thr) c.1786C>A (p.Pro596Thr) c.1123C>A (p.Pro375Thr)
1	g.6452016C=	CA1151533761	ESPN	c.275C= c.547C= (p.Pro183=) c.313C= (p.Pro105=) c.300C= c.2245C= (p.Pro749=) c.370C= (p.Pro124=) c.310C= (p.Pro104=) n.300C= c.394C= (p.Pro132=) c.2182C= (p.Pro728=) c.2155C= (p.Pro719=) c.1786C= (p.Pro596=) c.1123C= (p.Pro375=)
1	g.6452016C>G	CA338099793	ESPN	c.275C>G c.547C>G (p.Pro183Ala) c.313C>G (p.Pro105Ala) c.300C>G c.2245C>G (p.Pro749Ala) c.370C>G (p.Pro124Ala) c.310C>G (p.Pro104Ala) n.300C>G c.394C>G (p.Pro132Ala) c.2182C>G (p.Pro728Ala) c.2155C>G (p.Pro719Ala) c.1786C>G (p.Pro596Ala) c.1123C>G (p.Pro375Ala)
1	g.6452016C>T	CA338099797	ESPN	c.275C>T c.547C>T (p.Pro183Ser) c.313C>T (p.Pro105Ser) c.300C>T c.2245C>T (p.Pro749Ser) c.370C>T (p.Pro124Ser) c.310C>T (p.Pro104Ser) n.300C>T c.394C>T (p.Pro132Ser) c.2182C>T (p.Pro728Ser) c.2155C>T (p.Pro719Ser) c.1786C>T (p.Pro596Ser) c.1123C>T (p.Pro375Ser)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1	g.6452017C>A	CA338099801	ESPN	c.276C>A c.548C>A (p.Pro183His) c.314C>A (p.Pro105His) c.301C>A c.2246C>A (p.Pro749His) c.371C>A (p.Pro124His) c.311C>A (p.Pro104His) n.301C>A c.395C>A (p.Pro132His) c.2183C>A (p.Pro728His) c.2156C>A (p.Pro719His) c.1787C>A (p.Pro596His) c.1124C>A (p.Pro375His)	gnomAD v4
1	g.6452017C>G	CA338099805	ESPN	c.276C>G c.548C>G (p.Pro183Arg) c.314C>G (p.Pro105Arg) c.301C>G c.2246C>G (p.Pro749Arg) c.371C>G (p.Pro124Arg) c.311C>G (p.Pro104Arg) n.301C>G c.395C>G (p.Pro132Arg) c.2183C>G (p.Pro728Arg) c.2156C>G (p.Pro719Arg) c.1787C>G (p.Pro596Arg) c.1124C>G (p.Pro375Arg)
1	g.6452017C>T	CA338099808	ESPN	c.276C>T c.548C>T (p.Pro183Leu) c.314C>T (p.Pro105Leu) c.301C>T c.2246C>T (p.Pro749Leu) c.371C>T (p.Pro124Leu) c.311C>T (p.Pro104Leu) n.301C>T c.395C>T (p.Pro132Leu) c.2183C>T (p.Pro728Leu) c.2156C>T (p.Pro719Leu) c.1787C>T (p.Pro596Leu) c.1124C>T (p.Pro375Leu)	gnomAD v4
1	g.6452018C>A	CA416021342	ESPN	c.277C>A c.549C>A (p.Pro183=) c.315C>A (p.Pro105=) c.302C>A c.2247C>A (p.Pro749=) c.372C>A (p.Pro124=) c.312C>A (p.Pro104=) n.302C>A c.396C>A (p.Pro132=) c.2184C>A (p.Pro728=) c.2157C>A (p.Pro719=) c.1788C>A (p.Pro596=) c.1125C>A (p.Pro375=)	gnomAD v4
1	g.6452018C=	CA1151533768	ESPN	c.277C= c.549C= (p.Pro183=) c.315C= (p.Pro105=) c.302C= c.2247C= (p.Pro749=) c.372C= (p.Pro124=) c.312C= (p.Pro104=) n.302C= c.396C= (p.Pro132=) c.2184C= (p.Pro728=) c.2157C= (p.Pro719=) c.1788C= (p.Pro596=) c.1125C= (p.Pro375=)
1	g.6452018C>G	CA416021344	ESPN	c.277C>G c.549C>G (p.Pro183=) c.315C>G (p.Pro105=) c.302C>G c.2247C>G (p.Pro749=) c.372C>G (p.Pro124=) c.312C>G (p.Pro104=) n.302C>G c.396C>G (p.Pro132=) c.2184C>G (p.Pro728=) c.2157C>G (p.Pro719=) c.1788C>G (p.Pro596=) c.1125C>G (p.Pro375=)
1	g.6452018C>T	CA416021346	ESPN	c.277C>T c.549C>T (p.Pro183=) c.315C>T (p.Pro105=) c.302C>T c.2247C>T (p.Pro749=) c.372C>T (p.Pro124=) c.312C>T (p.Pro104=) n.302C>T c.396C>T (p.Pro132=) c.2184C>T (p.Pro728=) c.2157C>T (p.Pro719=) c.1788C>T (p.Pro596=) c.1125C>T (p.Pro375=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1	g.6452019A>C	CA338099816	ESPN	c.278A>C c.550A>C (p.Ile184Leu) c.316A>C (p.Ile106Leu) c.303A>C c.2248A>C (p.Ile750Leu) c.373A>C (p.Ile125Leu) c.313A>C (p.Ile105Leu) n.303A>C c.397A>C (p.Ile133Leu) c.2185A>C (p.Ile729Leu) c.2158A>C (p.Ile720Leu) c.1789A>C (p.Ile597Leu) c.1126A>C (p.Ile376Leu)
1	g.6452019A>G	CA338099815	ESPN	c.278A>G c.550A>G (p.Ile184Val) c.316A>G (p.Ile106Val) c.303A>G c.2248A>G (p.Ile750Val) c.373A>G (p.Ile125Val) c.313A>G (p.Ile105Val) n.303A>G c.397A>G (p.Ile133Val) c.2185A>G (p.Ile729Val) c.2158A>G (p.Ile720Val) c.1789A>G (p.Ile597Val) c.1126A>G (p.Ile376Val)	gnomAD v4
1	g.6452019A>T	CA338099812	ESPN	c.278A>T c.550A>T (p.Ile184Phe) c.316A>T (p.Ile106Phe) c.303A>T c.2248A>T (p.Ile750Phe) c.373A>T (p.Ile125Phe) c.313A>T (p.Ile105Phe) n.303A>T c.397A>T (p.Ile133Phe) c.2185A>T (p.Ile729Phe) c.2158A>T (p.Ile720Phe) c.1789A>T (p.Ile597Phe) c.1126A>T (p.Ile376Phe)
1	g.6452020T>A	CA338099821	ESPN	c.279T>A c.551T>A (p.Ile184Asn) c.317T>A (p.Ile106Asn) c.304T>A c.2249T>A (p.Ile750Asn) c.374T>A (p.Ile125Asn) c.314T>A (p.Ile105Asn) n.304T>A c.398T>A (p.Ile133Asn) c.2186T>A (p.Ile729Asn) c.2159T>A (p.Ile720Asn) c.1790T>A (p.Ile597Asn) c.1127T>A (p.Ile376Asn)
1	g.6452020T>C	CA338099824	ESPN	c.279T>C c.551T>C (p.Ile184Thr) c.317T>C (p.Ile106Thr) c.304T>C c.2249T>C (p.Ile750Thr) c.374T>C (p.Ile125Thr) c.314T>C (p.Ile105Thr) n.304T>C c.398T>C (p.Ile133Thr) c.2186T>C (p.Ile729Thr) c.2159T>C (p.Ile720Thr) c.1790T>C (p.Ile597Thr) c.1127T>C (p.Ile376Thr)	dbSNP
1	g.6452020T>G	CA338099827	ESPN	c.279T>G c.551T>G (p.Ile184Ser) c.317T>G (p.Ile106Ser) c.304T>G c.2249T>G (p.Ile750Ser) c.374T>G (p.Ile125Ser) c.314T>G (p.Ile105Ser) n.304T>G c.398T>G (p.Ile133Ser) c.2186T>G (p.Ile729Ser) c.2159T>G (p.Ile720Ser) c.1790T>G (p.Ile597Ser) c.1127T>G (p.Ile376Ser)
1	g.6452020T=	CA1151533770	ESPN	c.279T= c.551T= (p.Ile184=) c.317T= (p.Ile106=) c.304T= c.2249T= (p.Ile750=) c.374T= (p.Ile125=) c.314T= (p.Ile105=) n.304T= c.398T= (p.Ile133=) c.2186T= (p.Ile729=) c.2159T= (p.Ile720=) c.1790T= (p.Ile597=) c.1127T= (p.Ile376=)
1	g.6452021C>A	CA416021351	ESPN	c.280C>A c.552C>A (p.Ile184=) c.318C>A (p.Ile106=) c.305C>A c.2250C>A (p.Ile750=) c.375C>A (p.Ile125=) c.315C>A (p.Ile105=) n.305C>A c.399C>A (p.Ile133=) c.2187C>A (p.Ile729=) c.2160C>A (p.Ile720=) c.1791C>A (p.Ile597=) c.1128C>A (p.Ile376=)	gnomAD v4
1	g.6452021C>G	CA338099830	ESPN	c.280C>G c.552C>G (p.Ile184Met) c.318C>G (p.Ile106Met) c.305C>G c.2250C>G (p.Ile750Met) c.375C>G (p.Ile125Met) c.315C>G (p.Ile105Met) n.305C>G c.399C>G (p.Ile133Met) c.2187C>G (p.Ile729Met) c.2160C>G (p.Ile720Met) c.1791C>G (p.Ile597Met) c.1128C>G (p.Ile376Met)
1	g.6452021C>T	CA416021355	ESPN	c.280C>T c.552C>T (p.Ile184=) c.318C>T (p.Ile106=) c.305C>T c.2250C>T (p.Ile750=) c.375C>T (p.Ile125=) c.315C>T (p.Ile105=) n.305C>T c.399C>T (p.Ile133=) c.2187C>T (p.Ile729=) c.2160C>T (p.Ile720=) c.1791C>T (p.Ile597=) c.1128C>T (p.Ile376=)	gnomAD v4
1	g.6452022C>A	CA338099833	ESPN	c.281C>A c.553C>A (p.Pro185Thr) c.319C>A (p.Pro107Thr) c.306C>A c.2251C>A (p.Pro751Thr) c.376C>A (p.Pro126Thr) c.316C>A (p.Pro106Thr) n.306C>A c.400C>A (p.Pro134Thr) c.2188C>A (p.Pro730Thr) c.2161C>A (p.Pro721Thr) c.1792C>A (p.Pro598Thr) c.1129C>A (p.Pro377Thr)	gnomAD v4
1	g.6452022C>G	CA338099836	ESPN	c.281C>G c.553C>G (p.Pro185Ala) c.319C>G (p.Pro107Ala) c.306C>G c.2251C>G (p.Pro751Ala) c.376C>G (p.Pro126Ala) c.316C>G (p.Pro106Ala) n.306C>G c.400C>G (p.Pro134Ala) c.2188C>G (p.Pro730Ala) c.2161C>G (p.Pro721Ala) c.1792C>G (p.Pro598Ala) c.1129C>G (p.Pro377Ala)
1	g.6452022C>T	CA338099839	ESPN	c.281C>T c.553C>T (p.Pro185Ser) c.319C>T (p.Pro107Ser) c.306C>T c.2251C>T (p.Pro751Ser) c.376C>T (p.Pro126Ser) c.316C>T (p.Pro106Ser) n.306C>T c.400C>T (p.Pro134Ser) c.2188C>T (p.Pro730Ser) c.2161C>T (p.Pro721Ser) c.1792C>T (p.Pro598Ser) c.1129C>T (p.Pro377Ser)	gnomAD v4
1	g.6452023C>A	CA338099842	ESPN	c.282C>A c.554C>A (p.Pro185His) c.320C>A (p.Pro107His) c.307C>A c.2252C>A (p.Pro751His) c.377C>A (p.Pro126His) c.317C>A (p.Pro106His) n.307C>A c.401C>A (p.Pro134His) c.2189C>A (p.Pro730His) c.2162C>A (p.Pro721His) c.1793C>A (p.Pro598His) c.1130C>A (p.Pro377His)
1	g.6452023C>G	CA338099845	ESPN	c.282C>G c.554C>G (p.Pro185Arg) c.320C>G (p.Pro107Arg) c.307C>G c.2252C>G (p.Pro751Arg) c.377C>G (p.Pro126Arg) c.317C>G (p.Pro106Arg) n.307C>G c.401C>G (p.Pro134Arg) c.2189C>G (p.Pro730Arg) c.2162C>G (p.Pro721Arg) c.1793C>G (p.Pro598Arg) c.1130C>G (p.Pro377Arg)
1	g.6452023C>T	CA338099846	ESPN	c.282C>T c.554C>T (p.Pro185Leu) c.320C>T (p.Pro107Leu) c.307C>T c.2252C>T (p.Pro751Leu) c.377C>T (p.Pro126Leu) c.317C>T (p.Pro106Leu) n.307C>T c.401C>T (p.Pro134Leu) c.2189C>T (p.Pro730Leu) c.2162C>T (p.Pro721Leu) c.1793C>T (p.Pro598Leu) c.1130C>T (p.Pro377Leu)
1	g.6452024C>A	CA416021356	ESPN	c.283C>A c.555C>A (p.Pro185=) c.321C>A (p.Pro107=) c.308C>A c.2253C>A (p.Pro751=) c.378C>A (p.Pro126=) c.318C>A (p.Pro106=) n.308C>A c.402C>A (p.Pro134=) c.2190C>A (p.Pro730=) c.2163C>A (p.Pro721=) c.1794C>A (p.Pro598=) c.1131C>A (p.Pro377=)	gnomAD v4
1	g.6452024C=	CA1143768888	ESPN	c.283C= c.555C= (p.Pro185=) c.321C= (p.Pro107=) c.308C= c.2253C= (p.Pro751=) c.378C= (p.Pro126=) c.318C= (p.Pro106=) n.308C= c.402C= (p.Pro134=) c.2190C= (p.Pro730=) c.2163C= (p.Pro721=) c.1794C= (p.Pro598=) c.1131C= (p.Pro377=)
1	g.6452024C>G	CA560433	ESPN	c.283C>G c.555C>G (p.Pro185=) c.321C>G (p.Pro107=) c.308C>G c.2253C>G (p.Pro751=) c.378C>G (p.Pro126=) c.318C>G (p.Pro106=) n.308C>G c.402C>G (p.Pro134=) c.2190C>G (p.Pro730=) c.2163C>G (p.Pro721=) c.1794C>G (p.Pro598=) c.1131C>G (p.Pro377=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1	g.6452024C>T	CA560434	ESPN	c.283C>T c.555C>T (p.Pro185=) c.321C>T (p.Pro107=) c.308C>T c.2253C>T (p.Pro751=) c.378C>T (p.Pro126=) c.318C>T (p.Pro106=) n.308C>T c.402C>T (p.Pro134=) c.2190C>T (p.Pro730=) c.2163C>T (p.Pro721=) c.1794C>T (p.Pro598=) c.1131C>T (p.Pro377=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1	g.6452024_6452046delinsCGAGTGGAAGCGCCAGGTGATGG	CA1151533779	ESPN	c.283_305delinsCGAGTGGAAGCGCCAGGTGATGG c.555_577delinsCGAGTGGAAGCGCCAGGTGATGG (p.Pro185=) c.321_343delinsCGAGTGGAAGCGCCAGGTGATGG (p.Pro107=) c.308_330delinsCGAGTGGAAGCGCCAGGTGATGG c.2253_2275delinsCGAGTGGAAGCGCCAGGTGATGG (p.Pro751=) c.378_400delinsCGAGTGGAAGCGCCAGGTGATGG (p.Pro126=) c.318_340delinsCGAGTGGAAGCGCCAGGTGATGG (p.Pro106=) n.308_330delinsCGAGTGGAAGCGCCAGGTGATGG c.402_424delinsCGAGTGGAAGCGCCAGGTGATGG (p.Pro134=) c.2190_2212delinsCGAGTGGAAGCGCCAGGTGATGG (p.Pro730=) c.2163_2185delinsCGAGTGGAAGCGCCAGGTGATGG (p.Pro721=) c.1794_1816delinsCGAGTGGAAGCGCCAGGTGATGG (p.Pro598=) c.1131_1153delinsCGAGTGGAAGCGCCAGGTGATGG (p.Pro377=)
1	g.6452025G>A	CA560435	ESPN	c.284G>A c.556G>A (p.Glu186Lys) c.322G>A (p.Glu108Lys) c.309G>A c.2254G>A (p.Glu752Lys) c.379G>A (p.Glu127Lys) c.319G>A (p.Glu107Lys) n.309G>A c.403G>A (p.Glu135Lys) c.2191G>A (p.Glu731Lys) c.2164G>A (p.Glu722Lys) c.1795G>A (p.Glu599Lys) c.1132G>A (p.Glu378Lys)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1	g.6452025G>C	CA560436	ESPN	c.284G>C c.556G>C (p.Glu186Gln) c.322G>C (p.Glu108Gln) c.309G>C c.2254G>C (p.Glu752Gln) c.379G>C (p.Glu127Gln) c.319G>C (p.Glu107Gln) n.309G>C c.403G>C (p.Glu135Gln) c.2191G>C (p.Glu731Gln) c.2164G>C (p.Glu722Gln) c.1795G>C (p.Glu599Gln) c.1132G>C (p.Glu378Gln)	ClinVar dbSNP ExAC gnomAD v2
1	g.6452025G=	CA1151533783	ESPN	c.284G= c.556G= (p.Glu186=) c.322G= (p.Glu108=) c.309G= c.2254G= (p.Glu752=) c.379G= (p.Glu127=) c.319G= (p.Glu107=) n.309G= c.403G= (p.Glu135=) c.2191G= (p.Glu731=) c.2164G= (p.Glu722=) c.1795G= (p.Glu599=) c.1132G= (p.Glu378=)
1	g.6452025G>T	CA560437	ESPN	c.284G>T c.556G>T (p.Glu186Ter) c.322G>T (p.Glu108Ter) c.309G>T c.2254G>T (p.Glu752Ter) c.379G>T (p.Glu127Ter) c.319G>T (p.Glu107Ter) n.309G>T c.403G>T (p.Glu135Ter) c.2191G>T (p.Glu731Ter) c.2164G>T (p.Glu722Ter) c.1795G>T (p.Glu599Ter) c.1132G>T (p.Glu378Ter)	dbSNP ExAC gnomAD v2 gnomAD v4
1	g.6452025_6452046del	CA17215001	ESPN	c.284_305del c.556_577del (p.Glu186CysfsTer6) c.322_343del (p.Glu108CysfsTer6) c.309_330del c.2254_2275del (p.Glu752CysfsTer6) c.379_400del (p.Glu127CysfsTer6) c.319_340del (p.Glu107CysfsTer6) n.309_330del c.403_424del (p.Glu135CysfsTer6) c.2191_2212del (p.Glu731CysfsTer6) c.2164_2185del (p.Glu722CysfsTer6) c.1795_1816del (p.Glu599CysfsTer6) c.1132_1153del (p.Glu378CysfsTer6)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1	g.6452026A>C	CA338099860	ESPN	c.285A>C c.557A>C (p.Glu186Ala) c.323A>C (p.Glu108Ala) c.310A>C c.2255A>C (p.Glu752Ala) c.380A>C (p.Glu127Ala) c.320A>C (p.Glu107Ala) n.310A>C c.404A>C (p.Glu135Ala) c.2192A>C (p.Glu731Ala) c.2165A>C (p.Glu722Ala) c.1796A>C (p.Glu599Ala) c.1133A>C (p.Glu378Ala)
1	g.6452026A>G	CA338099863	ESPN	c.285A>G c.557A>G (p.Glu186Gly) c.323A>G (p.Glu108Gly) c.310A>G c.2255A>G (p.Glu752Gly) c.380A>G (p.Glu127Gly) c.320A>G (p.Glu107Gly) n.310A>G c.404A>G (p.Glu135Gly) c.2192A>G (p.Glu731Gly) c.2165A>G (p.Glu722Gly) c.1796A>G (p.Glu599Gly) c.1133A>G (p.Glu378Gly)	gnomAD v4
1	g.6452026A>T	CA338099865	ESPN	c.285A>T c.557A>T (p.Glu186Val) c.323A>T (p.Glu108Val) c.310A>T c.2255A>T (p.Glu752Val) c.380A>T (p.Glu127Val) c.320A>T (p.Glu107Val) n.310A>T c.404A>T (p.Glu135Val) c.2192A>T (p.Glu731Val) c.2165A>T (p.Glu722Val) c.1796A>T (p.Glu599Val) c.1133A>T (p.Glu378Val)
1	g.6452027G>A	CA560438	ESPN	c.286G>A c.558G>A (p.Glu186=) c.324G>A (p.Glu108=) c.311G>A c.2256G>A (p.Glu752=) c.381G>A (p.Glu127=) c.321G>A (p.Glu107=) n.311G>A c.405G>A (p.Glu135=) c.2193G>A (p.Glu731=) c.2166G>A (p.Glu722=) c.1797G>A (p.Glu599=) c.1134G>A (p.Glu378=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1	g.6452027G>C	CA338099870	ESPN	c.286G>C c.558G>C (p.Glu186Asp) c.324G>C (p.Glu108Asp) c.311G>C c.2256G>C (p.Glu752Asp) c.381G>C (p.Glu127Asp) c.321G>C (p.Glu107Asp) n.311G>C c.405G>C (p.Glu135Asp) c.2193G>C (p.Glu731Asp) c.2166G>C (p.Glu722Asp) c.1797G>C (p.Glu599Asp) c.1134G>C (p.Glu378Asp)
1	g.6452027G=	CA1143995177	ESPN	c.286G= c.558G= (p.Glu186=) c.324G= (p.Glu108=) c.311G= c.2256G= (p.Glu752=) c.381G= (p.Glu127=) c.321G= (p.Glu107=) n.311G= c.405G= (p.Glu135=) c.2193G= (p.Glu731=) c.2166G= (p.Glu722=) c.1797G= (p.Glu599=) c.1134G= (p.Glu378=)
1	g.6452027G>T	CA338099871	ESPN	c.286G>T c.558G>T (p.Glu186Asp) c.324G>T (p.Glu108Asp) c.311G>T c.2256G>T (p.Glu752Asp) c.381G>T (p.Glu127Asp) c.321G>T (p.Glu107Asp) n.311G>T c.405G>T (p.Glu135Asp) c.2193G>T (p.Glu731Asp) c.2166G>T (p.Glu722Asp) c.1797G>T (p.Glu599Asp) c.1134G>T (p.Glu378Asp)	gnomAD v4
1	g.6452028T>A	CA338099874	ESPN	c.287T>A c.559T>A (p.Trp187Arg) c.325T>A (p.Trp109Arg) c.312T>A c.2257T>A (p.Trp753Arg) c.382T>A (p.Trp128Arg) c.322T>A (p.Trp108Arg) n.312T>A c.406T>A (p.Trp136Arg) c.2194T>A (p.Trp732Arg) c.2167T>A (p.Trp723Arg) c.1798T>A (p.Trp600Arg) c.1135T>A (p.Trp379Arg)
1	g.6452028T>C	CA358084	ESPN	c.287T>C c.559T>C (p.Trp187Arg) c.325T>C (p.Trp109Arg) c.312T>C c.2257T>C (p.Trp753Arg) c.382T>C (p.Trp128Arg) c.322T>C (p.Trp108Arg) n.312T>C c.406T>C (p.Trp136Arg) c.2194T>C (p.Trp732Arg) c.2167T>C (p.Trp723Arg) c.1798T>C (p.Trp600Arg) c.1135T>C (p.Trp379Arg)	ClinVar dbSNP
1	g.6452028T>G	CA338099879	ESPN	c.287T>G c.559T>G (p.Trp187Gly) c.325T>G (p.Trp109Gly) c.312T>G c.2257T>G (p.Trp753Gly) c.382T>G (p.Trp128Gly) c.322T>G (p.Trp108Gly) n.312T>G c.406T>G (p.Trp136Gly) c.2194T>G (p.Trp732Gly) c.2167T>G (p.Trp723Gly) c.1798T>G (p.Trp600Gly) c.1135T>G (p.Trp379Gly)
1	g.6452028T=	CA1151533798	ESPN	c.287T= c.559T= (p.Trp187=) c.325T= (p.Trp109=) c.312T= c.2257T= (p.Trp753=) c.382T= (p.Trp128=) c.322T= (p.Trp108=) n.312T= c.406T= (p.Trp136=) c.2194T= (p.Trp732=) c.2167T= (p.Trp723=) c.1798T= (p.Trp600=) c.1135T= (p.Trp379=)
1	g.6452029G>A	CA338099889	ESPN	c.288G>A c.560G>A (p.Trp187Ter) c.326G>A (p.Trp109Ter) c.313G>A c.2258G>A (p.Trp753Ter) c.383G>A (p.Trp128Ter) c.323G>A (p.Trp108Ter) n.313G>A c.407G>A (p.Trp136Ter) c.2195G>A (p.Trp732Ter) c.2168G>A (p.Trp723Ter) c.1799G>A (p.Trp600Ter) c.1136G>A (p.Trp379Ter)	dbSNP gnomAD v2
1	g.6452029G>C	CA338099893	ESPN	c.288G>C c.560G>C (p.Trp187Ser) c.326G>C (p.Trp109Ser) c.313G>C c.2258G>C (p.Trp753Ser) c.383G>C (p.Trp128Ser) c.323G>C (p.Trp108Ser) n.313G>C c.407G>C (p.Trp136Ser) c.2195G>C (p.Trp732Ser) c.2168G>C (p.Trp723Ser) c.1799G>C (p.Trp600Ser) c.1136G>C (p.Trp379Ser)
1	g.6452029G=	CA1151533802	ESPN	c.288G= c.560G= (p.Trp187=) c.326G= (p.Trp109=) c.313G= c.2258G= (p.Trp753=) c.383G= (p.Trp128=) c.323G= (p.Trp108=) n.313G= c.407G= (p.Trp136=) c.2195G= (p.Trp732=) c.2168G= (p.Trp723=) c.1799G= (p.Trp600=) c.1136G= (p.Trp379=)
1	g.6452029G>T	CA338099896	ESPN	c.288G>T c.560G>T (p.Trp187Leu) c.326G>T (p.Trp109Leu) c.313G>T c.2258G>T (p.Trp753Leu) c.383G>T (p.Trp128Leu) c.323G>T (p.Trp108Leu) n.313G>T c.407G>T (p.Trp136Leu) c.2195G>T (p.Trp732Leu) c.2168G>T (p.Trp723Leu) c.1799G>T (p.Trp600Leu) c.1136G>T (p.Trp379Leu)	gnomAD v4
1	g.6452030G>A	CA338099903	ESPN	c.289G>A c.561G>A (p.Trp187Ter) c.327G>A (p.Trp109Ter) c.314G>A c.2259G>A (p.Trp753Ter) c.384G>A (p.Trp128Ter) c.324G>A (p.Trp108Ter) n.314G>A c.408G>A (p.Trp136Ter) c.2196G>A (p.Trp732Ter) c.2169G>A (p.Trp723Ter) c.1800G>A (p.Trp600Ter) c.1137G>A (p.Trp379Ter)
1	g.6452030G>C	CA338099906	ESPN	c.289G>C c.561G>C (p.Trp187Cys) c.327G>C (p.Trp109Cys) c.314G>C c.2259G>C (p.Trp753Cys) c.384G>C (p.Trp128Cys) c.324G>C (p.Trp108Cys) n.314G>C c.408G>C (p.Trp136Cys) c.2196G>C (p.Trp732Cys) c.2169G>C (p.Trp723Cys) c.1800G>C (p.Trp600Cys) c.1137G>C (p.Trp379Cys)
1	g.6452030G>T	CA338099900	ESPN	c.289G>T c.561G>T (p.Trp187Cys) c.327G>T (p.Trp109Cys) c.314G>T c.2259G>T (p.Trp753Cys) c.384G>T (p.Trp128Cys) c.324G>T (p.Trp108Cys) n.314G>T c.408G>T (p.Trp136Cys) c.2196G>T (p.Trp732Cys) c.2169G>T (p.Trp723Cys) c.1800G>T (p.Trp600Cys) c.1137G>T (p.Trp379Cys)	gnomAD v4
1	g.6452031A>C	CA338099915	ESPN	c.290A>C c.562A>C (p.Lys188Gln) c.328A>C (p.Lys110Gln) c.315A>C c.2260A>C (p.Lys754Gln) c.385A>C (p.Lys129Gln) c.325A>C (p.Lys109Gln) n.315A>C c.409A>C (p.Lys137Gln) c.2197A>C (p.Lys733Gln) c.2170A>C (p.Lys724Gln) c.1801A>C (p.Lys601Gln) c.1138A>C (p.Lys380Gln)
1	g.6452031A>G	CA338099909	ESPN	c.290A>G c.562A>G (p.Lys188Glu) c.328A>G (p.Lys110Glu) c.315A>G c.2260A>G (p.Lys754Glu) c.385A>G (p.Lys129Glu) c.325A>G (p.Lys109Glu) n.315A>G c.409A>G (p.Lys137Glu) c.2197A>G (p.Lys733Glu) c.2170A>G (p.Lys724Glu) c.1801A>G (p.Lys601Glu) c.1138A>G (p.Lys380Glu)	gnomAD v4
1	g.6452031A>T	CA338099911	ESPN	c.290A>T c.562A>T (p.Lys188Ter) c.328A>T (p.Lys110Ter) c.315A>T c.2260A>T (p.Lys754Ter) c.385A>T (p.Lys129Ter) c.325A>T (p.Lys109Ter) n.315A>T c.409A>T (p.Lys137Ter) c.2197A>T (p.Lys733Ter) c.2170A>T (p.Lys724Ter) c.1801A>T (p.Lys601Ter) c.1138A>T (p.Lys380Ter)
1	g.6452032A>C	CA338099918	ESPN	c.291A>C c.563A>C (p.Lys188Thr) c.329A>C (p.Lys110Thr) c.316A>C c.2261A>C (p.Lys754Thr) c.386A>C (p.Lys129Thr) c.326A>C (p.Lys109Thr) n.316A>C c.410A>C (p.Lys137Thr) c.2198A>C (p.Lys733Thr) c.2171A>C (p.Lys724Thr) c.1802A>C (p.Lys601Thr) c.1139A>C (p.Lys380Thr)
1	g.6452032A>G	CA338099925	ESPN	c.291A>G c.563A>G (p.Lys188Arg) c.329A>G (p.Lys110Arg) c.316A>G c.2261A>G (p.Lys754Arg) c.386A>G (p.Lys129Arg) c.326A>G (p.Lys109Arg) n.316A>G c.410A>G (p.Lys137Arg) c.2198A>G (p.Lys733Arg) c.2171A>G (p.Lys724Arg) c.1802A>G (p.Lys601Arg) c.1139A>G (p.Lys380Arg)	gnomAD v4
1	g.6452032A>T	CA338099928	ESPN	c.291A>T c.563A>T (p.Lys188Met) c.329A>T (p.Lys110Met) c.316A>T c.2261A>T (p.Lys754Met) c.386A>T (p.Lys129Met) c.326A>T (p.Lys109Met) n.316A>T c.410A>T (p.Lys137Met) c.2198A>T (p.Lys733Met) c.2171A>T (p.Lys724Met) c.1802A>T (p.Lys601Met) c.1139A>T (p.Lys380Met)
1	g.6452033G>A	CA416021380	ESPN	c.292G>A c.564G>A (p.Lys188=) c.330G>A (p.Lys110=) c.317G>A c.2262G>A (p.Lys754=) c.387G>A (p.Lys129=) c.327G>A (p.Lys109=) n.317G>A c.411G>A (p.Lys137=) c.2199G>A (p.Lys733=) c.2172G>A (p.Lys724=) c.1803G>A (p.Lys601=) c.1140G>A (p.Lys380=)
1	g.6452033G>C	CA338099932	ESPN	c.292G>C c.564G>C (p.Lys188Asn) c.330G>C (p.Lys110Asn) c.317G>C c.2262G>C (p.Lys754Asn) c.387G>C (p.Lys129Asn) c.327G>C (p.Lys109Asn) n.317G>C c.411G>C (p.Lys137Asn) c.2199G>C (p.Lys733Asn) c.2172G>C (p.Lys724Asn) c.1803G>C (p.Lys601Asn) c.1140G>C (p.Lys380Asn)
1	g.6452033G>T	CA338099935	ESPN	c.292G>T c.564G>T (p.Lys188Asn) c.330G>T (p.Lys110Asn) c.317G>T c.2262G>T (p.Lys754Asn) c.387G>T (p.Lys129Asn) c.327G>T (p.Lys109Asn) n.317G>T c.411G>T (p.Lys137Asn) c.2199G>T (p.Lys733Asn) c.2172G>T (p.Lys724Asn) c.1803G>T (p.Lys601Asn) c.1140G>T (p.Lys380Asn)
1	g.6452034C>A	CA338099939	ESPN	c.293C>A c.565C>A (p.Arg189Ser) c.331C>A (p.Arg111Ser) c.318C>A c.2263C>A (p.Arg755Ser) c.388C>A (p.Arg130Ser) c.328C>A (p.Arg110Ser) n.318C>A c.412C>A (p.Arg138Ser) c.2200C>A (p.Arg734Ser) c.2173C>A (p.Arg725Ser) c.1804C>A (p.Arg602Ser) c.1141C>A (p.Arg381Ser)	gnomAD v4
1	g.6452034C=	CA1151533805	ESPN	c.293C= c.565C= (p.Arg189=) c.331C= (p.Arg111=) c.318C= c.2263C= (p.Arg755=) c.388C= (p.Arg130=) c.328C= (p.Arg110=) n.318C= c.412C= (p.Arg138=) c.2200C= (p.Arg734=) c.2173C= (p.Arg725=) c.1804C= (p.Arg602=) c.1141C= (p.Arg381=)
1	g.6452034C>G	CA338099942	ESPN	c.293C>G c.565C>G (p.Arg189Gly) c.331C>G (p.Arg111Gly) c.318C>G c.2263C>G (p.Arg755Gly) c.388C>G (p.Arg130Gly) c.328C>G (p.Arg110Gly) n.318C>G c.412C>G (p.Arg138Gly) c.2200C>G (p.Arg734Gly) c.2173C>G (p.Arg725Gly) c.1804C>G (p.Arg602Gly) c.1141C>G (p.Arg381Gly)
1	g.6452034C>T	CA560439	ESPN	c.293C>T c.565C>T (p.Arg189Cys) c.331C>T (p.Arg111Cys) c.318C>T c.2263C>T (p.Arg755Cys) c.388C>T (p.Arg130Cys) c.328C>T (p.Arg110Cys) n.318C>T c.412C>T (p.Arg138Cys) c.2200C>T (p.Arg734Cys) c.2173C>T (p.Arg725Cys) c.1804C>T (p.Arg602Cys) c.1141C>T (p.Arg381Cys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1	g.6452035G>A	CA560440	ESPN	c.294G>A c.566G>A (p.Arg189His) c.332G>A (p.Arg111His) c.319G>A c.2264G>A (p.Arg755His) c.389G>A (p.Arg130His) c.329G>A (p.Arg110His) n.319G>A c.413G>A (p.Arg138His) c.2201G>A (p.Arg734His) c.2174G>A (p.Arg725His) c.1805G>A (p.Arg602His) c.1142G>A (p.Arg381His)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1	g.6452035G>C	CA338099950	ESPN	c.294G>C c.566G>C (p.Arg189Pro) c.332G>C (p.Arg111Pro) c.319G>C c.2264G>C (p.Arg755Pro) c.389G>C (p.Arg130Pro) c.329G>C (p.Arg110Pro) n.319G>C c.413G>C (p.Arg138Pro) c.2201G>C (p.Arg734Pro) c.2174G>C (p.Arg725Pro) c.1805G>C (p.Arg602Pro) c.1142G>C (p.Arg381Pro)
1	g.6452035G=	CA1143364495	ESPN	c.294G= c.566G= (p.Arg189=) c.332G= (p.Arg111=) c.319G= c.2264G= (p.Arg755=) c.389G= (p.Arg130=) c.329G= (p.Arg110=) n.319G= c.413G= (p.Arg138=) c.2201G= (p.Arg734=) c.2174G= (p.Arg725=) c.1805G= (p.Arg602=) c.1142G= (p.Arg381=)
1	g.6452035G>T	CA338099952	ESPN	c.294G>T c.566G>T (p.Arg189Leu) c.332G>T (p.Arg111Leu) c.319G>T c.2264G>T (p.Arg755Leu) c.389G>T (p.Arg130Leu) c.329G>T (p.Arg110Leu) n.319G>T c.413G>T (p.Arg138Leu) c.2201G>T (p.Arg734Leu) c.2174G>T (p.Arg725Leu) c.1805G>T (p.Arg602Leu) c.1142G>T (p.Arg381Leu)	gnomAD v4
1	g.6452036C>A	CA416021392	ESPN	c.295C>A c.567C>A (p.Arg189=) c.333C>A (p.Arg111=) c.320C>A c.2265C>A (p.Arg755=) c.390C>A (p.Arg130=) c.330C>A (p.Arg110=) n.320C>A c.414C>A (p.Arg138=) c.2202C>A (p.Arg734=) c.2175C>A (p.Arg725=) c.1806C>A (p.Arg602=) c.1143C>A (p.Arg381=)
1	g.6452036C>G	CA416021390	ESPN	c.295C>G c.567C>G (p.Arg189=) c.333C>G (p.Arg111=) c.320C>G c.2265C>G (p.Arg755=) c.390C>G (p.Arg130=) c.330C>G (p.Arg110=) n.320C>G c.414C>G (p.Arg138=) c.2202C>G (p.Arg734=) c.2175C>G (p.Arg725=) c.1806C>G (p.Arg602=) c.1143C>G (p.Arg381=)
1	g.6452036C>T	CA416021389	ESPN	c.295C>T c.567C>T (p.Arg189=) c.333C>T (p.Arg111=) c.320C>T c.2265C>T (p.Arg755=) c.390C>T (p.Arg130=) c.330C>T (p.Arg110=) n.320C>T c.414C>T (p.Arg138=) c.2202C>T (p.Arg734=) c.2175C>T (p.Arg725=) c.1806C>T (p.Arg602=) c.1143C>T (p.Arg381=)	gnomAD v4
1	g.6452037C>A	CA338099954	ESPN	c.296C>A c.568C>A (p.Gln190Lys) c.334C>A (p.Gln112Lys) c.321C>A c.2266C>A (p.Gln756Lys) c.391C>A (p.Gln131Lys) c.331C>A (p.Gln111Lys) n.321C>A c.415C>A (p.Gln139Lys) c.2203C>A (p.Gln735Lys) c.2176C>A (p.Gln726Lys) c.1807C>A (p.Gln603Lys) c.1144C>A (p.Gln382Lys)
1	g.6452037C=	CA1151533812	ESPN	c.296C= c.568C= (p.Gln190=) c.334C= (p.Gln112=) c.321C= c.2266C= (p.Gln756=) c.391C= (p.Gln131=) c.331C= (p.Gln111=) n.321C= c.415C= (p.Gln139=) c.2203C= (p.Gln735=) c.2176C= (p.Gln726=) c.1807C= (p.Gln603=) c.1144C= (p.Gln382=)
1	g.6452037C>G	CA560441	ESPN	c.296C>G c.568C>G (p.Gln190Glu) c.334C>G (p.Gln112Glu) c.321C>G c.2266C>G (p.Gln756Glu) c.391C>G (p.Gln131Glu) c.331C>G (p.Gln111Glu) n.321C>G c.415C>G (p.Gln139Glu) c.2203C>G (p.Gln735Glu) c.2176C>G (p.Gln726Glu) c.1807C>G (p.Gln603Glu) c.1144C>G (p.Gln382Glu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1	g.6452037C>T	CA338099957	ESPN	c.296C>T c.568C>T (p.Gln190Ter) c.334C>T (p.Gln112Ter) c.321C>T c.2266C>T (p.Gln756Ter) c.391C>T (p.Gln131Ter) c.331C>T (p.Gln111Ter) n.321C>T c.415C>T (p.Gln139Ter) c.2203C>T (p.Gln735Ter) c.2176C>T (p.Gln726Ter) c.1807C>T (p.Gln603Ter) c.1144C>T (p.Gln382Ter)
1	g.6452038A>C	CA338099961	ESPN	c.297A>C c.569A>C (p.Gln190Pro) c.335A>C (p.Gln112Pro) c.322A>C c.2267A>C (p.Gln756Pro) c.392A>C (p.Gln131Pro) c.332A>C (p.Gln111Pro) n.322A>C c.416A>C (p.Gln139Pro) c.2204A>C (p.Gln735Pro) c.2177A>C (p.Gln726Pro) c.1808A>C (p.Gln603Pro) c.1145A>C (p.Gln382Pro)
1	g.6452038A>G	CA338099966	ESPN	c.297A>G c.569A>G (p.Gln190Arg) c.335A>G (p.Gln112Arg) c.322A>G c.2267A>G (p.Gln756Arg) c.392A>G (p.Gln131Arg) c.332A>G (p.Gln111Arg) n.322A>G c.416A>G (p.Gln139Arg) c.2204A>G (p.Gln735Arg) c.2177A>G (p.Gln726Arg) c.1808A>G (p.Gln603Arg) c.1145A>G (p.Gln382Arg)	ClinVar gnomAD v4
1	g.6452038A>T	CA338099969	ESPN	c.297A>T c.569A>T (p.Gln190Leu) c.335A>T (p.Gln112Leu) c.322A>T c.2267A>T (p.Gln756Leu) c.392A>T (p.Gln131Leu) c.332A>T (p.Gln111Leu) n.322A>T c.416A>T (p.Gln139Leu) c.2204A>T (p.Gln735Leu) c.2177A>T (p.Gln726Leu) c.1808A>T (p.Gln603Leu) c.1145A>T (p.Gln382Leu)
1	g.6452039G>A	CA416021393	ESPN	c.298G>A c.570G>A (p.Gln190=) c.336G>A (p.Gln112=) c.323G>A c.2268G>A (p.Gln756=) c.393G>A (p.Gln131=) c.333G>A (p.Gln111=) n.323G>A c.417G>A (p.Gln139=) c.2205G>A (p.Gln735=) c.2178G>A (p.Gln726=) c.1809G>A (p.Gln603=) c.1146G>A (p.Gln382=)	dbSNP gnomAD v4
1	g.6452039G>C	CA338099972	ESPN	c.298G>C c.570G>C (p.Gln190His) c.336G>C (p.Gln112His) c.323G>C c.2268G>C (p.Gln756His) c.393G>C (p.Gln131His) c.333G>C (p.Gln111His) n.323G>C c.417G>C (p.Gln139His) c.2205G>C (p.Gln735His) c.2178G>C (p.Gln726His) c.1809G>C (p.Gln603His) c.1146G>C (p.Gln382His)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1	g.6452039G=	CA1151533816	ESPN	c.298G= c.570G= (p.Gln190=) c.336G= (p.Gln112=) c.323G= c.2268G= (p.Gln756=) c.393G= (p.Gln131=) c.333G= (p.Gln111=) n.323G= c.417G= (p.Gln139=) c.2205G= (p.Gln735=) c.2178G= (p.Gln726=) c.1809G= (p.Gln603=) c.1146G= (p.Gln382=)
1	g.6452039G>T	CA338099974	ESPN	c.298G>T c.570G>T (p.Gln190His) c.336G>T (p.Gln112His) c.323G>T c.2268G>T (p.Gln756His) c.393G>T (p.Gln131His) c.333G>T (p.Gln111His) n.323G>T c.417G>T (p.Gln139His) c.2205G>T (p.Gln735His) c.2178G>T (p.Gln726His) c.1809G>T (p.Gln603His) c.1146G>T (p.Gln382His)	gnomAD v4
1	g.6452040G>A	CA338099977	ESPN	c.299G>A c.571G>A (p.Val191Met) c.337G>A (p.Val113Met) c.324G>A c.2269G>A (p.Val757Met) c.394G>A (p.Val132Met) c.334G>A (p.Val112Met) n.324G>A c.418G>A (p.Val140Met) c.2206G>A (p.Val736Met) c.2179G>A (p.Val727Met) c.1810G>A (p.Val604Met) c.1147G>A (p.Val383Met)
1	g.6452040G>C	CA338099981	ESPN	c.299G>C c.571G>C (p.Val191Leu) c.337G>C (p.Val113Leu) c.324G>C c.2269G>C (p.Val757Leu) c.394G>C (p.Val132Leu) c.334G>C (p.Val112Leu) n.324G>C c.418G>C (p.Val140Leu) c.2206G>C (p.Val736Leu) c.2179G>C (p.Val727Leu) c.1810G>C (p.Val604Leu) c.1147G>C (p.Val383Leu)
1	g.6452040G>T	CA338099984	ESPN	c.299G>T c.571G>T (p.Val191Leu) c.337G>T (p.Val113Leu) c.324G>T c.2269G>T (p.Val757Leu) c.394G>T (p.Val132Leu) c.334G>T (p.Val112Leu) n.324G>T c.418G>T (p.Val140Leu) c.2206G>T (p.Val736Leu) c.2179G>T (p.Val727Leu) c.1810G>T (p.Val604Leu) c.1147G>T (p.Val383Leu)
1	g.6452041T>A	CA338099988	ESPN	c.300T>A c.572T>A (p.Val191Glu) c.338T>A (p.Val113Glu) c.325T>A c.2270T>A (p.Val757Glu) c.395T>A (p.Val132Glu) c.335T>A (p.Val112Glu) n.325T>A c.419T>A (p.Val140Glu) c.2207T>A (p.Val736Glu) c.2180T>A (p.Val727Glu) c.1811T>A (p.Val604Glu) c.1148T>A (p.Val383Glu)
1	g.6452041T>C	CA338099991	ESPN	c.300T>C c.572T>C (p.Val191Ala) c.338T>C (p.Val113Ala) c.325T>C c.2270T>C (p.Val757Ala) c.395T>C (p.Val132Ala) c.335T>C (p.Val112Ala) n.325T>C c.419T>C (p.Val140Ala) c.2207T>C (p.Val736Ala) c.2180T>C (p.Val727Ala) c.1811T>C (p.Val604Ala) c.1148T>C (p.Val383Ala)
1	g.6452041T>G	CA338099993	ESPN	c.300T>G c.572T>G (p.Val191Gly) c.338T>G (p.Val113Gly) c.325T>G c.2270T>G (p.Val757Gly) c.395T>G (p.Val132Gly) c.335T>G (p.Val112Gly) n.325T>G c.419T>G (p.Val140Gly) c.2207T>G (p.Val736Gly) c.2180T>G (p.Val727Gly) c.1811T>G (p.Val604Gly) c.1148T>G (p.Val383Gly)
1	g.6452042G>A	CA416021403	ESPN	c.301G>A c.573G>A (p.Val191=) c.339G>A (p.Val113=) c.326G>A c.2271G>A (p.Val757=) c.396G>A (p.Val132=) c.336G>A (p.Val112=) n.326G>A c.420G>A (p.Val140=) c.2208G>A (p.Val736=) c.2181G>A (p.Val727=) c.1812G>A (p.Val604=) c.1149G>A (p.Val383=)	gnomAD v4
1	g.6452042G>C	CA416021411	ESPN	c.301G>C c.573G>C (p.Val191=) c.339G>C (p.Val113=) c.326G>C c.2271G>C (p.Val757=) c.396G>C (p.Val132=) c.336G>C (p.Val112=) n.326G>C c.420G>C (p.Val140=) c.2208G>C (p.Val736=) c.2181G>C (p.Val727=) c.1812G>C (p.Val604=) c.1149G>C (p.Val383=)	gnomAD v4
1	g.6452042G>T	CA416021410	ESPN	c.301G>T c.573G>T (p.Val191=) c.339G>T (p.Val113=) c.326G>T c.2271G>T (p.Val757=) c.396G>T (p.Val132=) c.336G>T (p.Val112=) n.326G>T c.420G>T (p.Val140=) c.2208G>T (p.Val736=) c.2181G>T (p.Val727=) c.1812G>T (p.Val604=) c.1149G>T (p.Val383=)	gnomAD v4
1	g.6452043A>C	CA338100000	ESPN	c.302A>C c.574A>C (p.Met192Leu) c.340A>C (p.Met114Leu) c.327A>C c.2272A>C (p.Met758Leu) c.397A>C (p.Met133Leu) c.337A>C (p.Met113Leu) n.327A>C c.421A>C (p.Met141Leu) c.2209A>C (p.Met737Leu) c.2182A>C (p.Met728Leu) c.1813A>C (p.Met605Leu) c.1150A>C (p.Met384Leu)
1	g.6452043A>G	CA338100004	ESPN	c.302A>G c.574A>G (p.Met192Val) c.340A>G (p.Met114Val) c.327A>G c.2272A>G (p.Met758Val) c.397A>G (p.Met133Val) c.337A>G (p.Met113Val) n.327A>G c.421A>G (p.Met141Val) c.2209A>G (p.Met737Val) c.2182A>G (p.Met728Val) c.1813A>G (p.Met605Val) c.1150A>G (p.Met384Val)	gnomAD v4
1	g.6452043A>T	CA338099998	ESPN	c.302A>T c.574A>T (p.Met192Leu) c.340A>T (p.Met114Leu) c.327A>T c.2272A>T (p.Met758Leu) c.397A>T (p.Met133Leu) c.337A>T (p.Met113Leu) n.327A>T c.421A>T (p.Met141Leu) c.2209A>T (p.Met737Leu) c.2182A>T (p.Met728Leu) c.1813A>T (p.Met605Leu) c.1150A>T (p.Met384Leu)
1	g.6452044del	CA2642978306	ESPN	c.303del c.575del (p.Met192ArgfsTer7) c.341del (p.Met114ArgfsTer7) c.328del c.2273del (p.Met758ArgfsTer7) c.398del (p.Met133ArgfsTer7) c.338del (p.Met113ArgfsTer7) n.328del c.422del (p.Met141ArgfsTer7) c.2210del (p.Met737ArgfsTer7) c.2183del (p.Met728ArgfsTer7) c.1814del (p.Met605ArgfsTer7) c.1151del (p.Met384ArgfsTer7)	gnomAD v4
1	g.6452044T>A	CA338100007	ESPN	c.303T>A c.575T>A (p.Met192Lys) c.341T>A (p.Met114Lys) c.328T>A c.2273T>A (p.Met758Lys) c.398T>A (p.Met133Lys) c.338T>A (p.Met113Lys) n.328T>A c.422T>A (p.Met141Lys) c.2210T>A (p.Met737Lys) c.2183T>A (p.Met728Lys) c.1814T>A (p.Met605Lys) c.1151T>A (p.Met384Lys)
1	g.6452044T>C	CA338100010	ESPN	c.303T>C c.575T>C (p.Met192Thr) c.341T>C (p.Met114Thr) c.328T>C c.2273T>C (p.Met758Thr) c.398T>C (p.Met133Thr) c.338T>C (p.Met113Thr) n.328T>C c.422T>C (p.Met141Thr) c.2210T>C (p.Met737Thr) c.2183T>C (p.Met728Thr) c.1814T>C (p.Met605Thr) c.1151T>C (p.Met384Thr)
1	g.6452044T>G	CA338100012	ESPN	c.303T>G c.575T>G (p.Met192Arg) c.341T>G (p.Met114Arg) c.328T>G c.2273T>G (p.Met758Arg) c.398T>G (p.Met133Arg) c.338T>G (p.Met113Arg) n.328T>G c.422T>G (p.Met141Arg) c.2210T>G (p.Met737Arg) c.2183T>G (p.Met728Arg) c.1814T>G (p.Met605Arg) c.1151T>G (p.Met384Arg)
1	g.6452044_6452049dup	CA2642978305	ESPN	c.303_308dup c.575_580dup (p.Val193_Arg194insLeuVal) c.341_346dup (p.Val115_Arg116insLeuVal) c.328_333dup c.2273_2278dup (p.Val759_Arg760insLeuVal) c.398_403dup (p.Val134_Arg135insLeuVal) c.338_343dup (p.Val114_Arg115insLeuVal) n.328_333dup c.422_427dup (p.Val142_Arg143insLeuVal) c.2210_2215dup (p.Val738_Arg739insLeuVal) c.2183_2188dup (p.Val729_Arg730insLeuVal) c.1814_1819dup (p.Val606_Arg607insLeuVal) c.1151_1156dup (p.Val385_Arg386insLeuVal)	gnomAD v4
1	g.6452045G>A	CA338100015	ESPN	c.304G>A c.576G>A (p.Met192Ile) c.342G>A (p.Met114Ile) c.329G>A c.2274G>A (p.Met758Ile) c.399G>A (p.Met133Ile) c.339G>A (p.Met113Ile) n.329G>A c.423G>A (p.Met141Ile) c.2211G>A (p.Met737Ile) c.2184G>A (p.Met728Ile) c.1815G>A (p.Met605Ile) c.1152G>A (p.Met384Ile)
1	g.6452045G>C	CA338100019	ESPN	c.304G>C c.576G>C (p.Met192Ile) c.342G>C (p.Met114Ile) c.329G>C c.2274G>C (p.Met758Ile) c.399G>C (p.Met133Ile) c.339G>C (p.Met113Ile) n.329G>C c.423G>C (p.Met141Ile) c.2211G>C (p.Met737Ile) c.2184G>C (p.Met728Ile) c.1815G>C (p.Met605Ile) c.1152G>C (p.Met384Ile)
1	g.6452045G>T	CA338100022	ESPN	c.304G>T c.576G>T (p.Met192Ile) c.342G>T (p.Met114Ile) c.329G>T c.2274G>T (p.Met758Ile) c.399G>T (p.Met133Ile) c.339G>T (p.Met113Ile) n.329G>T c.423G>T (p.Met141Ile) c.2211G>T (p.Met737Ile) c.2184G>T (p.Met728Ile) c.1815G>T (p.Met605Ile) c.1152G>T (p.Met384Ile)	gnomAD v4
1	g.6452046G>A	CA560442	ESPN	c.305G>A c.577G>A (p.Val193Met) c.343G>A (p.Val115Met) c.330G>A c.2275G>A (p.Val759Met) c.400G>A (p.Val134Met) c.340G>A (p.Val114Met) n.330G>A c.424G>A (p.Val142Met) c.2212G>A (p.Val738Met) c.2185G>A (p.Val729Met) c.1816G>A (p.Val606Met) c.1153G>A (p.Val385Met)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1	g.6452046G>C	CA338100027	ESPN	c.305G>C c.577G>C (p.Val193Leu) c.343G>C (p.Val115Leu) c.330G>C c.2275G>C (p.Val759Leu) c.400G>C (p.Val134Leu) c.340G>C (p.Val114Leu) n.330G>C c.424G>C (p.Val142Leu) c.2212G>C (p.Val738Leu) c.2185G>C (p.Val729Leu) c.1816G>C (p.Val606Leu) c.1153G>C (p.Val385Leu)	ClinVar dbSNP
1	g.6452046G=	CA1151533820	ESPN	c.305G= c.577G= (p.Val193=) c.343G= (p.Val115=) c.330G= c.2275G= (p.Val759=) c.400G= (p.Val134=) c.340G= (p.Val114=) n.330G= c.424G= (p.Val142=) c.2212G= (p.Val738=) c.2185G= (p.Val729=) c.1816G= (p.Val606=) c.1153G= (p.Val385=)
1	g.6452046G>T	CA338100031	ESPN	c.305G>T c.577G>T (p.Val193Leu) c.343G>T (p.Val115Leu) c.330G>T c.2275G>T (p.Val759Leu) c.400G>T (p.Val134Leu) c.340G>T (p.Val114Leu) n.330G>T c.424G>T (p.Val142Leu) c.2212G>T (p.Val738Leu) c.2185G>T (p.Val729Leu) c.1816G>T (p.Val606Leu) c.1153G>T (p.Val385Leu)	gnomAD v4
1	g.6452047T>A	CA338100034	ESPN	c.306T>A c.578T>A (p.Val193Glu) c.344T>A (p.Val115Glu) c.331T>A c.2276T>A (p.Val759Glu) c.401T>A (p.Val134Glu) c.341T>A (p.Val114Glu) n.331T>A c.425T>A (p.Val142Glu) c.2213T>A (p.Val738Glu) c.2186T>A (p.Val729Glu) c.1817T>A (p.Val606Glu) c.1154T>A (p.Val385Glu)
1	g.6452047T>C	CA338100037	ESPN	c.306T>C c.578T>C (p.Val193Ala) c.344T>C (p.Val115Ala) c.331T>C c.2276T>C (p.Val759Ala) c.401T>C (p.Val134Ala) c.341T>C (p.Val114Ala) n.331T>C c.425T>C (p.Val142Ala) c.2213T>C (p.Val738Ala) c.2186T>C (p.Val729Ala) c.1817T>C (p.Val606Ala) c.1154T>C (p.Val385Ala)
1	g.6452047T>G	CA17215097	ESPN	c.306T>G c.578T>G (p.Val193Gly) c.344T>G (p.Val115Gly) c.331T>G c.2276T>G (p.Val759Gly) c.401T>G (p.Val134Gly) c.341T>G (p.Val114Gly) n.331T>G c.425T>G (p.Val142Gly) c.2213T>G (p.Val738Gly) c.2186T>G (p.Val729Gly) c.1817T>G (p.Val606Gly) c.1154T>G (p.Val385Gly)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1	g.6452047T=	CA1151533821	ESPN	c.306T= c.578T= (p.Val193=) c.344T= (p.Val115=) c.331T= c.2276T= (p.Val759=) c.401T= (p.Val134=) c.341T= (p.Val114=) n.331T= c.425T= (p.Val142=) c.2213T= (p.Val738=) c.2186T= (p.Val729=) c.1817T= (p.Val606=) c.1154T= (p.Val385=)
1	g.6452048G>A	CA416021425	ESPN	c.307G>A c.579G>A (p.Val193=) c.345G>A (p.Val115=) c.332G>A c.2277G>A (p.Val759=) c.402G>A (p.Val134=) c.342G>A (p.Val114=) n.332G>A c.426G>A (p.Val142=) c.2214G>A (p.Val738=) c.2187G>A (p.Val729=) c.1818G>A (p.Val606=) c.1155G>A (p.Val385=)	gnomAD v4
1	g.6452048G>C	CA416021427	ESPN	c.307G>C c.579G>C (p.Val193=) c.345G>C (p.Val115=) c.332G>C c.2277G>C (p.Val759=) c.402G>C (p.Val134=) c.342G>C (p.Val114=) n.332G>C c.426G>C (p.Val142=) c.2214G>C (p.Val738=) c.2187G>C (p.Val729=) c.1818G>C (p.Val606=) c.1155G>C (p.Val385=)
1	g.6452048G>T	CA416021426	ESPN	c.307G>T c.579G>T (p.Val193=) c.345G>T (p.Val115=) c.332G>T c.2277G>T (p.Val759=) c.402G>T (p.Val134=) c.342G>T (p.Val114=) n.332G>T c.426G>T (p.Val142=) c.2214G>T (p.Val738=) c.2187G>T (p.Val729=) c.1818G>T (p.Val606=) c.1155G>T (p.Val385=)	gnomAD v4
1	g.6452049C>A	CA338100046	ESPN	c.308C>A c.580C>A (p.Arg194Ser) c.346C>A (p.Arg116Ser) c.333C>A c.2278C>A (p.Arg760Ser) c.403C>A (p.Arg135Ser) c.343C>A (p.Arg115Ser) n.333C>A c.427C>A (p.Arg143Ser) c.2215C>A (p.Arg739Ser) c.2188C>A (p.Arg730Ser) c.1819C>A (p.Arg607Ser) c.1156C>A (p.Arg386Ser)	gnomAD v4
1	g.6452049C=	CA1142380768	ESPN	c.308C= c.580C= (p.Arg194=) c.346C= (p.Arg116=) c.333C= c.2278C= (p.Arg760=) c.403C= (p.Arg135=) c.343C= (p.Arg115=) n.333C= c.427C= (p.Arg143=) c.2215C= (p.Arg739=) c.2188C= (p.Arg730=) c.1819C= (p.Arg607=) c.1156C= (p.Arg386=)
1	g.6452049C>G	CA17215115	ESPN	c.308C>G c.580C>G (p.Arg194Gly) c.346C>G (p.Arg116Gly) c.333C>G c.2278C>G (p.Arg760Gly) c.403C>G (p.Arg135Gly) c.343C>G (p.Arg115Gly) n.333C>G c.427C>G (p.Arg143Gly) c.2215C>G (p.Arg739Gly) c.2188C>G (p.Arg730Gly) c.1819C>G (p.Arg607Gly) c.1156C>G (p.Arg386Gly)	dbSNP gnomAD v2 gnomAD v4
1	g.6452049C>T	CA560443	ESPN	c.308C>T c.580C>T (p.Arg194Cys) c.346C>T (p.Arg116Cys) c.333C>T c.2278C>T (p.Arg760Cys) c.403C>T (p.Arg135Cys) c.343C>T (p.Arg115Cys) n.333C>T c.427C>T (p.Arg143Cys) c.2215C>T (p.Arg739Cys) c.2188C>T (p.Arg730Cys) c.1819C>T (p.Arg607Cys) c.1156C>T (p.Arg386Cys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1	g.6452050G>A	CA560444	ESPN	c.309G>A c.581G>A (p.Arg194His) c.347G>A (p.Arg116His) c.334G>A c.2279G>A (p.Arg760His) c.404G>A (p.Arg135His) c.344G>A (p.Arg115His) n.334G>A c.428G>A (p.Arg143His) c.2216G>A (p.Arg739His) c.2189G>A (p.Arg730His) c.1820G>A (p.Arg607His) c.1157G>A (p.Arg386His)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1	g.6452050G>C	CA338100056	ESPN	c.309G>C c.581G>C (p.Arg194Pro) c.347G>C (p.Arg116Pro) c.334G>C c.2279G>C (p.Arg760Pro) c.404G>C (p.Arg135Pro) c.344G>C (p.Arg115Pro) n.334G>C c.428G>C (p.Arg143Pro) c.2216G>C (p.Arg739Pro) c.2189G>C (p.Arg730Pro) c.1820G>C (p.Arg607Pro) c.1157G>C (p.Arg386Pro)
1	g.6452050G=	CA1143786683	ESPN	c.309G= c.581G= (p.Arg194=) c.347G= (p.Arg116=) c.334G= c.2279G= (p.Arg760=) c.404G= (p.Arg135=) c.344G= (p.Arg115=) n.334G= c.428G= (p.Arg143=) c.2216G= (p.Arg739=) c.2189G= (p.Arg730=) c.1820G= (p.Arg607=) c.1157G= (p.Arg386=)
1	g.6452050G>T	CA17215125	ESPN	c.309G>T c.581G>T (p.Arg194Leu) c.347G>T (p.Arg116Leu) c.334G>T c.2279G>T (p.Arg760Leu) c.404G>T (p.Arg135Leu) c.344G>T (p.Arg115Leu) n.334G>T c.428G>T (p.Arg143Leu) c.2216G>T (p.Arg739Leu) c.2189G>T (p.Arg730Leu) c.1820G>T (p.Arg607Leu) c.1157G>T (p.Arg386Leu)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1	g.6452051C>A	CA416021444	ESPN	c.310C>A c.582C>A (p.Arg194=) c.348C>A (p.Arg116=) c.335C>A c.2280C>A (p.Arg760=) c.405C>A (p.Arg135=) c.345C>A (p.Arg115=) n.335C>A c.429C>A (p.Arg143=) c.2217C>A (p.Arg739=) c.2190C>A (p.Arg730=) c.1821C>A (p.Arg607=) c.1158C>A (p.Arg386=)	gnomAD v4
1	g.6452051C>G	CA416021445	ESPN	c.310C>G c.582C>G (p.Arg194=) c.348C>G (p.Arg116=) c.335C>G c.2280C>G (p.Arg760=) c.405C>G (p.Arg135=) c.345C>G (p.Arg115=) n.335C>G c.429C>G (p.Arg143=) c.2217C>G (p.Arg739=) c.2190C>G (p.Arg730=) c.1821C>G (p.Arg607=) c.1158C>G (p.Arg386=)
1	g.6452051C>T	CA416021446	ESPN	c.310C>T c.582C>T (p.Arg194=) c.348C>T (p.Arg116=) c.335C>T c.2280C>T (p.Arg760=) c.405C>T (p.Arg135=) c.345C>T (p.Arg115=) n.335C>T c.429C>T (p.Arg143=) c.2217C>T (p.Arg739=) c.2190C>T (p.Arg730=) c.1821C>T (p.Arg607=) c.1158C>T (p.Arg386=)
1	g.6452052A>C	CA338100061	ESPN	c.311A>C c.583A>C (p.Lys195Gln) c.349A>C (p.Lys117Gln) c.336A>C c.2281A>C (p.Lys761Gln) c.406A>C (p.Lys136Gln) c.346A>C (p.Lys116Gln) n.336A>C c.430A>C (p.Lys144Gln) c.2218A>C (p.Lys740Gln) c.2191A>C (p.Lys731Gln) c.1822A>C (p.Lys608Gln) c.1159A>C (p.Lys387Gln)
1	g.6452052A>G	CA338100064	ESPN	c.311A>G c.583A>G (p.Lys195Glu) c.349A>G (p.Lys117Glu) c.336A>G c.2281A>G (p.Lys761Glu) c.406A>G (p.Lys136Glu) c.346A>G (p.Lys116Glu) n.336A>G c.430A>G (p.Lys144Glu) c.2218A>G (p.Lys740Glu) c.2191A>G (p.Lys731Glu) c.1822A>G (p.Lys608Glu) c.1159A>G (p.Lys387Glu)	gnomAD v4
1	g.6452052A>T	CA338100067	ESPN	c.311A>T c.583A>T (p.Lys195Ter) c.349A>T (p.Lys117Ter) c.336A>T c.2281A>T (p.Lys761Ter) c.406A>T (p.Lys136Ter) c.346A>T (p.Lys116Ter) n.336A>T c.430A>T (p.Lys144Ter) c.2218A>T (p.Lys740Ter) c.2191A>T (p.Lys731Ter) c.1822A>T (p.Lys608Ter) c.1159A>T (p.Lys387Ter)
1	g.6452053A>C	CA338100078	ESPN	c.312A>C c.584A>C (p.Lys195Thr) c.350A>C (p.Lys117Thr) c.337A>C c.2282A>C (p.Lys761Thr) c.407A>C (p.Lys136Thr) c.347A>C (p.Lys116Thr) n.337A>C c.431A>C (p.Lys144Thr) c.2219A>C (p.Lys740Thr) c.2192A>C (p.Lys731Thr) c.1823A>C (p.Lys608Thr) c.1160A>C (p.Lys387Thr)
1	g.6452053A>G	CA338100070	ESPN	c.312A>G c.584A>G (p.Lys195Arg) c.350A>G (p.Lys117Arg) c.337A>G c.2282A>G (p.Lys761Arg) c.407A>G (p.Lys136Arg) c.347A>G (p.Lys116Arg) n.337A>G c.431A>G (p.Lys144Arg) c.2219A>G (p.Lys740Arg) c.2192A>G (p.Lys731Arg) c.1823A>G (p.Lys608Arg) c.1160A>G (p.Lys387Arg)	gnomAD v4
1	g.6452053A>T	CA338100075	ESPN	c.312A>T c.584A>T (p.Lys195Met) c.350A>T (p.Lys117Met) c.337A>T c.2282A>T (p.Lys761Met) c.407A>T (p.Lys136Met) c.347A>T (p.Lys116Met) n.337A>T c.431A>T (p.Lys144Met) c.2219A>T (p.Lys740Met) c.2192A>T (p.Lys731Met) c.1823A>T (p.Lys608Met) c.1160A>T (p.Lys387Met)
1	g.6452054G>A	CA416021450	ESPN	c.313G>A c.585G>A (p.Lys195=) c.351G>A (p.Lys117=) c.338G>A c.2283G>A (p.Lys761=) c.408G>A (p.Lys136=) c.348G>A (p.Lys116=) n.338G>A c.432G>A (p.Lys144=) c.2220G>A (p.Lys740=) c.2193G>A (p.Lys731=) c.1824G>A (p.Lys608=) c.1161G>A (p.Lys387=)	dbSNP gnomAD v2
1	g.6452054G>C	CA338100082	ESPN	c.313G>C c.585G>C (p.Lys195Asn) c.351G>C (p.Lys117Asn) c.338G>C c.2283G>C (p.Lys761Asn) c.408G>C (p.Lys136Asn) c.348G>C (p.Lys116Asn) n.338G>C c.432G>C (p.Lys144Asn) c.2220G>C (p.Lys740Asn) c.2193G>C (p.Lys731Asn) c.1824G>C (p.Lys608Asn) c.1161G>C (p.Lys387Asn)
1	g.6452054G=	CA1151533831	ESPN	c.313G= c.585G= (p.Lys195=) c.351G= (p.Lys117=) c.338G= c.2283G= (p.Lys761=) c.408G= (p.Lys136=) c.348G= (p.Lys116=) n.338G= c.432G= (p.Lys144=) c.2220G= (p.Lys740=) c.2193G= (p.Lys731=) c.1824G= (p.Lys608=) c.1161G= (p.Lys387=)
1	g.6452054G>T	CA338100085	ESPN	c.313G>T c.585G>T (p.Lys195Asn) c.351G>T (p.Lys117Asn) c.338G>T c.2283G>T (p.Lys761Asn) c.408G>T (p.Lys136Asn) c.348G>T (p.Lys116Asn) n.338G>T c.432G>T (p.Lys144Asn) c.2220G>T (p.Lys740Asn) c.2193G>T (p.Lys731Asn) c.1824G>T (p.Lys608Asn) c.1161G>T (p.Lys387Asn)
1	g.6452055A=	CA1141752258	ESPN	c.314A= c.586A= (p.Met196=) c.352A= (p.Met118=) c.339A= c.2284A= (p.Met762=) c.409A= (p.Met137=) c.349A= (p.Met117=) n.339A= c.433A= (p.Met145=) c.2221A= (p.Met741=) c.2194A= (p.Met732=) c.1825A= (p.Met609=) c.1162A= (p.Met388=)
1	g.6452055A>C	CA338100088	ESPN	c.314A>C c.586A>C (p.Met196Leu) c.352A>C (p.Met118Leu) c.339A>C c.2284A>C (p.Met762Leu) c.409A>C (p.Met137Leu) c.349A>C (p.Met117Leu) n.339A>C c.433A>C (p.Met145Leu) c.2221A>C (p.Met741Leu) c.2194A>C (p.Met732Leu) c.1825A>C (p.Met609Leu) c.1162A>C (p.Met388Leu)
1	g.6452055A>G	CA338100099	ESPN	c.314A>G c.586A>G (p.Met196Val) c.352A>G (p.Met118Val) c.339A>G c.2284A>G (p.Met762Val) c.409A>G (p.Met137Val) c.349A>G (p.Met117Val) n.339A>G c.433A>G (p.Met145Val) c.2221A>G (p.Met741Val) c.2194A>G (p.Met732Val) c.1825A>G (p.Met609Val) c.1162A>G (p.Met388Val)
1	g.6452055A>T	CA560445	ESPN	c.314A>T c.586A>T (p.Met196Leu) c.352A>T (p.Met118Leu) c.339A>T c.2284A>T (p.Met762Leu) c.409A>T (p.Met137Leu) c.349A>T (p.Met117Leu) n.339A>T c.433A>T (p.Met145Leu) c.2221A>T (p.Met741Leu) c.2194A>T (p.Met732Leu) c.1825A>T (p.Met609Leu) c.1162A>T (p.Met388Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1	g.6452056T>A	CA338100105	ESPN	c.315T>A c.587T>A (p.Met196Lys) c.353T>A (p.Met118Lys) c.340T>A c.2285T>A (p.Met762Lys) c.410T>A (p.Met137Lys) c.350T>A (p.Met117Lys) n.340T>A c.434T>A (p.Met145Lys) c.2222T>A (p.Met741Lys) c.2195T>A (p.Met732Lys) c.1826T>A (p.Met609Lys) c.1163T>A (p.Met388Lys)
1	g.6452056T>C	CA338100110	ESPN	c.315T>C c.587T>C (p.Met196Thr) c.353T>C (p.Met118Thr) c.340T>C c.2285T>C (p.Met762Thr) c.410T>C (p.Met137Thr) c.350T>C (p.Met117Thr) n.340T>C c.434T>C (p.Met145Thr) c.2222T>C (p.Met741Thr) c.2195T>C (p.Met732Thr) c.1826T>C (p.Met609Thr) c.1163T>C (p.Met388Thr)
1	g.6452056T>G	CA338100107	ESPN	c.315T>G c.587T>G (p.Met196Arg) c.353T>G (p.Met118Arg) c.340T>G c.2285T>G (p.Met762Arg) c.410T>G (p.Met137Arg) c.350T>G (p.Met117Arg) n.340T>G c.434T>G (p.Met145Arg) c.2222T>G (p.Met741Arg) c.2195T>G (p.Met732Arg) c.1826T>G (p.Met609Arg) c.1163T>G (p.Met388Arg)
1	g.6452057G>A	CA338100113	ESPN	c.316G>A c.588G>A (p.Met196Ile) c.354G>A (p.Met118Ile) c.341G>A c.2286G>A (p.Met762Ile) c.411G>A (p.Met137Ile) c.351G>A (p.Met117Ile) n.341G>A c.435G>A (p.Met145Ile) c.2223G>A (p.Met741Ile) c.2196G>A (p.Met732Ile) c.1827G>A (p.Met609Ile) c.1164G>A (p.Met388Ile)	gnomAD v4
1	g.6452057G>C	CA338100121	ESPN	c.316G>C c.588G>C (p.Met196Ile) c.354G>C (p.Met118Ile) c.341G>C c.2286G>C (p.Met762Ile) c.411G>C (p.Met137Ile) c.351G>C (p.Met117Ile) n.341G>C c.435G>C (p.Met145Ile) c.2223G>C (p.Met741Ile) c.2196G>C (p.Met732Ile) c.1827G>C (p.Met609Ile) c.1164G>C (p.Met388Ile)
1	g.6452057G>T	CA338100117	ESPN	c.316G>T c.588G>T (p.Met196Ile) c.354G>T (p.Met118Ile) c.341G>T c.2286G>T (p.Met762Ile) c.411G>T (p.Met137Ile) c.351G>T (p.Met117Ile) n.341G>T c.435G>T (p.Met145Ile) c.2223G>T (p.Met741Ile) c.2196G>T (p.Met732Ile) c.1827G>T (p.Met609Ile) c.1164G>T (p.Met388Ile)	gnomAD v4
1	g.6452058C>A	CA338100124	ESPN	c.317C>A c.589C>A (p.Gln197Lys) c.355C>A (p.Gln119Lys) c.342C>A c.2287C>A (p.Gln763Lys) c.412C>A (p.Gln138Lys) c.352C>A (p.Gln118Lys) n.342C>A c.436C>A (p.Gln146Lys) c.2224C>A (p.Gln742Lys) c.2197C>A (p.Gln733Lys) c.1828C>A (p.Gln610Lys) c.1165C>A (p.Gln389Lys)	gnomAD v4
1	g.6452058C>G	CA338100136	ESPN	c.317C>G c.589C>G (p.Gln197Glu) c.355C>G (p.Gln119Glu) c.342C>G c.2287C>G (p.Gln763Glu) c.412C>G (p.Gln138Glu) c.352C>G (p.Gln118Glu) n.342C>G c.436C>G (p.Gln146Glu) c.2224C>G (p.Gln742Glu) c.2197C>G (p.Gln733Glu) c.1828C>G (p.Gln610Glu) c.1165C>G (p.Gln389Glu)
1	g.6452058C>T	CA338100126	ESPN	c.317C>T c.589C>T (p.Gln197Ter) c.355C>T (p.Gln119Ter) c.342C>T c.2287C>T (p.Gln763Ter) c.412C>T (p.Gln138Ter) c.352C>T (p.Gln118Ter) n.342C>T c.436C>T (p.Gln146Ter) c.2224C>T (p.Gln742Ter) c.2197C>T (p.Gln733Ter) c.1828C>T (p.Gln610Ter) c.1165C>T (p.Gln389Ter)	gnomAD v4
1	g.6452059A>C	CA338100139	ESPN	c.318A>C c.590A>C (p.Gln197Pro) c.356A>C (p.Gln119Pro) c.343A>C c.2288A>C (p.Gln763Pro) c.413A>C (p.Gln138Pro) c.353A>C (p.Gln118Pro) n.343A>C c.437A>C (p.Gln146Pro) c.2225A>C (p.Gln742Pro) c.2198A>C (p.Gln733Pro) c.1829A>C (p.Gln610Pro) c.1166A>C (p.Gln389Pro)
1	g.6452059A>G	CA338100145	ESPN	c.318A>G c.590A>G (p.Gln197Arg) c.356A>G (p.Gln119Arg) c.343A>G c.2288A>G (p.Gln763Arg) c.413A>G (p.Gln138Arg) c.353A>G (p.Gln118Arg) n.343A>G c.437A>G (p.Gln146Arg) c.2225A>G (p.Gln742Arg) c.2198A>G (p.Gln733Arg) c.1829A>G (p.Gln610Arg) c.1166A>G (p.Gln389Arg)	gnomAD v4
1	g.6452059A>T	CA338100142	ESPN	c.318A>T c.590A>T (p.Gln197Leu) c.356A>T (p.Gln119Leu) c.343A>T c.2288A>T (p.Gln763Leu) c.413A>T (p.Gln138Leu) c.353A>T (p.Gln118Leu) n.343A>T c.437A>T (p.Gln146Leu) c.2225A>T (p.Gln742Leu) c.2198A>T (p.Gln733Leu) c.1829A>T (p.Gln610Leu) c.1166A>T (p.Gln389Leu)	gnomAD v4
1	g.6452060G>A	CA416021458	ESPN	c.319G>A c.591G>A (p.Gln197=) c.357G>A (p.Gln119=) c.344G>A c.2289G>A (p.Gln763=) c.414G>A (p.Gln138=) c.354G>A (p.Gln118=) n.344G>A c.438G>A (p.Gln146=) c.2226G>A (p.Gln742=) c.2199G>A (p.Gln733=) c.1830G>A (p.Gln610=) c.1167G>A (p.Gln389=)	gnomAD v4
1	g.6452060G>C	CA338100147	ESPN	c.319G>C c.591G>C (p.Gln197His) c.357G>C (p.Gln119His) c.344G>C c.2289G>C (p.Gln763His) c.414G>C (p.Gln138His) c.354G>C (p.Gln118His) n.344G>C c.438G>C (p.Gln146His) c.2226G>C (p.Gln742His) c.2199G>C (p.Gln733His) c.1830G>C (p.Gln610His) c.1167G>C (p.Gln389His)
1	g.6452060G>T	CA338100149	ESPN	c.319G>T c.591G>T (p.Gln197His) c.357G>T (p.Gln119His) c.344G>T c.2289G>T (p.Gln763His) c.414G>T (p.Gln138His) c.354G>T (p.Gln118His) n.344G>T c.438G>T (p.Gln146His) c.2226G>T (p.Gln742His) c.2199G>T (p.Gln733His) c.1830G>T (p.Gln610His) c.1167G>T (p.Gln389His)
1	g.6452061C>A	CA338100152	ESPN	c.320C>A c.592C>A (p.Leu198Met) c.358C>A (p.Leu120Met) c.345C>A c.2290C>A (p.Leu764Met) c.415C>A (p.Leu139Met) c.355C>A (p.Leu119Met) n.345C>A c.439C>A (p.Leu147Met) c.2227C>A (p.Leu743Met) c.2200C>A (p.Leu734Met) c.1831C>A (p.Leu611Met) c.1168C>A (p.Leu390Met)	gnomAD v4
1	g.6452061C>G	CA338100155	ESPN	c.320C>G c.592C>G (p.Leu198Val) c.358C>G (p.Leu120Val) c.345C>G c.2290C>G (p.Leu764Val) c.415C>G (p.Leu139Val) c.355C>G (p.Leu119Val) n.345C>G c.439C>G (p.Leu147Val) c.2227C>G (p.Leu743Val) c.2200C>G (p.Leu734Val) c.1831C>G (p.Leu611Val) c.1168C>G (p.Leu390Val)	gnomAD v4
1	g.6452061C>T	CA416021459	ESPN	c.320C>T c.592C>T (p.Leu198=) c.358C>T (p.Leu120=) c.345C>T c.2290C>T (p.Leu764=) c.415C>T (p.Leu139=) c.355C>T (p.Leu119=) n.345C>T c.439C>T (p.Leu147=) c.2227C>T (p.Leu743=) c.2200C>T (p.Leu734=) c.1831C>T (p.Leu611=) c.1168C>T (p.Leu390=)
1	g.6452062T>A	CA338100159	ESPN	c.321T>A c.593T>A (p.Leu198Gln) c.359T>A (p.Leu120Gln) c.346T>A c.2291T>A (p.Leu764Gln) c.416T>A (p.Leu139Gln) c.356T>A (p.Leu119Gln) n.346T>A c.440T>A (p.Leu147Gln) c.2228T>A (p.Leu743Gln) c.2201T>A (p.Leu734Gln) c.1832T>A (p.Leu611Gln) c.1169T>A (p.Leu390Gln)
1	g.6452062T>C	CA338100162	ESPN	c.321T>C c.593T>C (p.Leu198Pro) c.359T>C (p.Leu120Pro) c.346T>C c.2291T>C (p.Leu764Pro) c.416T>C (p.Leu139Pro) c.356T>C (p.Leu119Pro) n.346T>C c.440T>C (p.Leu147Pro) c.2228T>C (p.Leu743Pro) c.2201T>C (p.Leu734Pro) c.1832T>C (p.Leu611Pro) c.1169T>C (p.Leu390Pro)	gnomAD v4
1	g.6452062T>G	CA338100164	ESPN	c.321T>G c.593T>G (p.Leu198Arg) c.359T>G (p.Leu120Arg) c.346T>G c.2291T>G (p.Leu764Arg) c.416T>G (p.Leu139Arg) c.356T>G (p.Leu119Arg) n.346T>G c.440T>G (p.Leu147Arg) c.2228T>G (p.Leu743Arg) c.2201T>G (p.Leu734Arg) c.1832T>G (p.Leu611Arg) c.1169T>G (p.Leu390Arg)
1	g.6452062_6452063insTC	CA2742316100	ESPN	c.321_322insTC c.593_594insTC (p.Lys199ArgfsTer?) c.359_360insTC (p.Lys121ArgfsTer?) c.346_347insTC c.2291_2292insTC (p.Lys765ArgfsTer13) c.416_417insTC (p.Lys140ArgfsTer?) c.2291_2292insTC (p.Lys765ArgfsTer?) c.356_357insTC (p.Lys120ArgfsTer?) n.346_347insTC c.440_441insTC (p.Lys148ArgfsTer?) c.2228_2229insTC (p.Lys744ArgfsTer?) c.2228_2229insTC (p.Lys744ArgfsTer13) c.2201_2202insTC (p.Lys735ArgfsTer13) c.1832_1833insTC (p.Lys612ArgfsTer13) c.1169_1170insTC (p.Lys391ArgfsTer13) c.2201_2202insTC (p.Lys735ArgfsTer?) c.416_417insTC (p.Lys140ArgfsTer13)
1	g.6452063G>A	CA416021464	ESPN	c.322G>A c.594G>A (p.Leu198=) c.360G>A (p.Leu120=) c.347G>A c.2292G>A (p.Leu764=) c.417G>A (p.Leu139=) c.357G>A (p.Leu119=) n.347G>A c.441G>A (p.Leu147=) c.2229G>A (p.Leu743=) c.2202G>A (p.Leu734=) c.1833G>A (p.Leu611=) c.1170G>A (p.Leu390=)	gnomAD v4
1	g.6452063G>C	CA416021462	ESPN	c.322G>C c.594G>C (p.Leu198=) c.360G>C (p.Leu120=) c.347G>C c.2292G>C (p.Leu764=) c.417G>C (p.Leu139=) c.357G>C (p.Leu119=) n.347G>C c.441G>C (p.Leu147=) c.2229G>C (p.Leu743=) c.2202G>C (p.Leu734=) c.1833G>C (p.Leu611=) c.1170G>C (p.Leu390=)
1	g.6452063G>T	CA416021463	ESPN	c.322G>T c.594G>T (p.Leu198=) c.360G>T (p.Leu120=) c.347G>T c.2292G>T (p.Leu764=) c.417G>T (p.Leu139=) c.357G>T (p.Leu119=) n.347G>T c.441G>T (p.Leu147=) c.2229G>T (p.Leu743=) c.2202G>T (p.Leu734=) c.1833G>T (p.Leu611=) c.1170G>T (p.Leu390=)	gnomAD v4
1	g.6452064A=	CA1151533838	ESPN	c.323A= c.595A= (p.Lys199=) c.361A= (p.Lys121=) c.348A= c.2293A= (p.Lys765=) c.418A= (p.Lys140=) c.358A= (p.Lys120=) n.348A= c.442A= (p.Lys148=) c.2230A= (p.Lys744=) c.2203A= (p.Lys735=) c.1834A= (p.Lys612=) c.1171A= (p.Lys391=)
1	g.6452064A>C	CA338100168	ESPN	c.323A>C c.595A>C (p.Lys199Gln) c.361A>C (p.Lys121Gln) c.348A>C c.2293A>C (p.Lys765Gln) c.418A>C (p.Lys140Gln) c.358A>C (p.Lys120Gln) n.348A>C c.442A>C (p.Lys148Gln) c.2230A>C (p.Lys744Gln) c.2203A>C (p.Lys735Gln) c.1834A>C (p.Lys612Gln) c.1171A>C (p.Lys391Gln)
1	g.6452064A>G	CA338100170	ESPN	c.323A>G c.595A>G (p.Lys199Glu) c.361A>G (p.Lys121Glu) c.348A>G c.2293A>G (p.Lys765Glu) c.418A>G (p.Lys140Glu) c.358A>G (p.Lys120Glu) n.348A>G c.442A>G (p.Lys148Glu) c.2230A>G (p.Lys744Glu) c.2203A>G (p.Lys735Glu) c.1834A>G (p.Lys612Glu) c.1171A>G (p.Lys391Glu)	ClinVar dbSNP gnomAD v2 gnomAD v4
1	g.6452064A>T	CA338100172	ESPN	c.323A>T c.595A>T (p.Lys199Ter) c.361A>T (p.Lys121Ter) c.348A>T c.2293A>T (p.Lys765Ter) c.418A>T (p.Lys140Ter) c.358A>T (p.Lys120Ter) n.348A>T c.442A>T (p.Lys148Ter) c.2230A>T (p.Lys744Ter) c.2203A>T (p.Lys735Ter) c.1834A>T (p.Lys612Ter) c.1171A>T (p.Lys391Ter)	COSMIC
1	g.6452064_6452065del	CA2742316101	ESPN	c.323_324del c.595_596del (p.Lys199AspfsTer?) c.361_362del (p.Lys121AspfsTer?) c.348_349del c.2293_2294del (p.Lys765AspfsTer?) c.418_419del (p.Lys140AspfsTer?) c.358_359del (p.Lys120AspfsTer?) n.348_349del c.442_443del (p.Lys148AspfsTer?) c.2230_2231del (p.Lys744AspfsTer?) c.2203_2204del (p.Lys735AspfsTer?) c.1834_1835del (p.Lys612AspfsTer?) c.1171_1172del (p.Lys391AspfsTer?)
1	g.6452065A>C	CA338100181	ESPN	c.324A>C c.596A>C (p.Lys199Thr) c.362A>C (p.Lys121Thr) c.349A>C c.2294A>C (p.Lys765Thr) c.419A>C (p.Lys140Thr) c.359A>C (p.Lys120Thr) n.349A>C c.443A>C (p.Lys148Thr) c.2231A>C (p.Lys744Thr) c.2204A>C (p.Lys735Thr) c.1835A>C (p.Lys612Thr) c.1172A>C (p.Lys391Thr)
1	g.6452065A>G	CA338100178	ESPN	c.324A>G c.596A>G (p.Lys199Arg) c.362A>G (p.Lys121Arg) c.349A>G c.2294A>G (p.Lys765Arg) c.419A>G (p.Lys140Arg) c.359A>G (p.Lys120Arg) n.349A>G c.443A>G (p.Lys148Arg) c.2231A>G (p.Lys744Arg) c.2204A>G (p.Lys735Arg) c.1835A>G (p.Lys612Arg) c.1172A>G (p.Lys391Arg)
1	g.6452065A>T	CA338100176	ESPN	c.324A>T c.596A>T (p.Lys199Met) c.362A>T (p.Lys121Met) c.349A>T c.2294A>T (p.Lys765Met) c.419A>T (p.Lys140Met) c.359A>T (p.Lys120Met) n.349A>T c.443A>T (p.Lys148Met) c.2231A>T (p.Lys744Met) c.2204A>T (p.Lys735Met) c.1835A>T (p.Lys612Met) c.1172A>T (p.Lys391Met)
1	g.6452066G>A	CA416021470	ESPN	c.325G>A c.597G>A (p.Lys199=) c.363G>A (p.Lys121=) c.350G>A c.2295G>A (p.Lys765=) c.420G>A (p.Lys140=) c.360G>A (p.Lys120=) n.350G>A c.444G>A (p.Lys148=) c.2232G>A (p.Lys744=) c.2205G>A (p.Lys735=) c.1836G>A (p.Lys612=) c.1173G>A (p.Lys391=)
1	g.6452066G>C	CA338100183	ESPN	c.325G>C c.597G>C (p.Lys199Asn) c.363G>C (p.Lys121Asn) c.350G>C c.2295G>C (p.Lys765Asn) c.420G>C (p.Lys140Asn) c.360G>C (p.Lys120Asn) n.350G>C c.444G>C (p.Lys148Asn) c.2232G>C (p.Lys744Asn) c.2205G>C (p.Lys735Asn) c.1836G>C (p.Lys612Asn) c.1173G>C (p.Lys391Asn)	COSMIC
1	g.6452066G>T	CA338100186	ESPN	c.325G>T c.597G>T (p.Lys199Asn) c.363G>T (p.Lys121Asn) c.350G>T c.2295G>T (p.Lys765Asn) c.420G>T (p.Lys140Asn) c.360G>T (p.Lys120Asn) n.350G>T c.444G>T (p.Lys148Asn) c.2232G>T (p.Lys744Asn) c.2205G>T (p.Lys735Asn) c.1836G>T (p.Lys612Asn) c.1173G>T (p.Lys391Asn)	gnomAD v4 COSMIC
1	g.6452067A>C	CA338100192	ESPN	c.326A>C c.598A>C (p.Met200Leu) c.364A>C (p.Met122Leu) c.351A>C c.2296A>C (p.Met766Leu) c.421A>C (p.Met141Leu) c.361A>C (p.Met121Leu) n.351A>C c.445A>C (p.Met149Leu) c.2233A>C (p.Met745Leu) c.2206A>C (p.Met736Leu) c.1837A>C (p.Met613Leu) c.1174A>C (p.Met392Leu)
1	g.6452067A>G	CA338100194	ESPN	c.326A>G c.598A>G (p.Met200Val) c.364A>G (p.Met122Val) c.351A>G c.2296A>G (p.Met766Val) c.421A>G (p.Met141Val) c.361A>G (p.Met121Val) n.351A>G c.445A>G (p.Met149Val) c.2233A>G (p.Met745Val) c.2206A>G (p.Met736Val) c.1837A>G (p.Met613Val) c.1174A>G (p.Met392Val)	gnomAD v3 gnomAD v4
1	g.6452067A>T	CA338100197	ESPN	c.326A>T c.598A>T (p.Met200Leu) c.364A>T (p.Met122Leu) c.351A>T c.2296A>T (p.Met766Leu) c.421A>T (p.Met141Leu) c.361A>T (p.Met121Leu) n.351A>T c.445A>T (p.Met149Leu) c.2233A>T (p.Met745Leu) c.2206A>T (p.Met736Leu) c.1837A>T (p.Met613Leu) c.1174A>T (p.Met392Leu)
1	g.6452068T>A	CA338100200	ESPN	c.327T>A c.599T>A (p.Met200Lys) c.365T>A (p.Met122Lys) c.352T>A c.2297T>A (p.Met766Lys) c.422T>A (p.Met141Lys) c.362T>A (p.Met121Lys) n.352T>A c.446T>A (p.Met149Lys) c.2234T>A (p.Met745Lys) c.2207T>A (p.Met736Lys) c.1838T>A (p.Met613Lys) c.1175T>A (p.Met392Lys)
1	g.6452068T>C	CA338100202	ESPN	c.327T>C c.599T>C (p.Met200Thr) c.365T>C (p.Met122Thr) c.352T>C c.2297T>C (p.Met766Thr) c.422T>C (p.Met141Thr) c.362T>C (p.Met121Thr) n.352T>C c.446T>C (p.Met149Thr) c.2234T>C (p.Met745Thr) c.2207T>C (p.Met736Thr) c.1838T>C (p.Met613Thr) c.1175T>C (p.Met392Thr)	dbSNP gnomAD v2 gnomAD v4
1	g.6452068T>G	CA338100203	ESPN	c.327T>G c.599T>G (p.Met200Arg) c.365T>G (p.Met122Arg) c.352T>G c.2297T>G (p.Met766Arg) c.422T>G (p.Met141Arg) c.362T>G (p.Met121Arg) n.352T>G c.446T>G (p.Met149Arg) c.2234T>G (p.Met745Arg) c.2207T>G (p.Met736Arg) c.1838T>G (p.Met613Arg) c.1175T>G (p.Met392Arg)
1	g.6452068T=	CA1151533840	ESPN	c.327T= c.599T= (p.Met200=) c.365T= (p.Met122=) c.352T= c.2297T= (p.Met766=) c.422T= (p.Met141=) c.362T= (p.Met121=) n.352T= c.446T= (p.Met149=) c.2234T= (p.Met745=) c.2207T= (p.Met736=) c.1838T= (p.Met613=) c.1175T= (p.Met392=)
1	g.6452069G>A	CA338100208	ESPN	c.328G>A c.600G>A (p.Met200Ile) c.366G>A (p.Met122Ile) c.353G>A c.2298G>A (p.Met766Ile) c.423G>A (p.Met141Ile) c.363G>A (p.Met121Ile) n.353G>A c.447G>A (p.Met149Ile) c.2235G>A (p.Met745Ile) c.2208G>A (p.Met736Ile) c.1839G>A (p.Met613Ile) c.1176G>A (p.Met392Ile)	dbSNP gnomAD v2
1	g.6452069G>C	CA338100210	ESPN	c.328G>C c.600G>C (p.Met200Ile) c.366G>C (p.Met122Ile) c.353G>C c.2298G>C (p.Met766Ile) c.423G>C (p.Met141Ile) c.363G>C (p.Met121Ile) n.353G>C c.447G>C (p.Met149Ile) c.2235G>C (p.Met745Ile) c.2208G>C (p.Met736Ile) c.1839G>C (p.Met613Ile) c.1176G>C (p.Met392Ile)
1	g.6452069G=	CA1151533844	ESPN	c.328G= c.600G= (p.Met200=) c.366G= (p.Met122=) c.353G= c.2298G= (p.Met766=) c.423G= (p.Met141=) c.363G= (p.Met121=) n.353G= c.447G= (p.Met149=) c.2235G= (p.Met745=) c.2208G= (p.Met736=) c.1839G= (p.Met613=) c.1176G= (p.Met392=)
1	g.6452069G>T	CA338100214	ESPN	c.328G>T c.600G>T (p.Met200Ile) c.366G>T (p.Met122Ile) c.353G>T c.2298G>T (p.Met766Ile) c.423G>T (p.Met141Ile) c.363G>T (p.Met121Ile) n.353G>T c.447G>T (p.Met149Ile) c.2235G>T (p.Met745Ile) c.2208G>T (p.Met736Ile) c.1839G>T (p.Met613Ile) c.1176G>T (p.Met392Ile)	gnomAD v4
1	g.6452070C>A	CA338100226	ESPN	c.329C>A c.601C>A (p.Gln201Lys) c.367C>A (p.Gln123Lys) c.354C>A c.2299C>A (p.Gln767Lys) c.424C>A (p.Gln142Lys) c.364C>A (p.Gln122Lys) n.354C>A c.448C>A (p.Gln150Lys) c.2236C>A (p.Gln746Lys) c.2209C>A (p.Gln737Lys) c.1840C>A (p.Gln614Lys) c.1177C>A (p.Gln393Lys)	gnomAD v4
1	g.6452070C>G	CA338100222	ESPN	c.329C>G c.601C>G (p.Gln201Glu) c.367C>G (p.Gln123Glu) c.354C>G c.2299C>G (p.Gln767Glu) c.424C>G (p.Gln142Glu) c.364C>G (p.Gln122Glu) n.354C>G c.448C>G (p.Gln150Glu) c.2236C>G (p.Gln746Glu) c.2209C>G (p.Gln737Glu) c.1840C>G (p.Gln614Glu) c.1177C>G (p.Gln393Glu)
1	g.6452070C>T	CA338100219	ESPN	c.329C>T c.601C>T (p.Gln201Ter) c.367C>T (p.Gln123Ter) c.354C>T c.2299C>T (p.Gln767Ter) c.424C>T (p.Gln142Ter) c.364C>T (p.Gln122Ter) n.354C>T c.448C>T (p.Gln150Ter) c.2236C>T (p.Gln746Ter) c.2209C>T (p.Gln737Ter) c.1840C>T (p.Gln614Ter) c.1177C>T (p.Gln393Ter)	gnomAD v4
1	g.6452070_6452073delinsCAGG	CA1151533849	ESPN	c.329_332delinsCAGG c.601_604delinsCAGG (p.Gln201=) c.367_370delinsCAGG (p.Gln123=) c.354_357delinsCAGG c.2299_2302delinsCAGG (p.Gln767=) c.424_427delinsCAGG (p.Gln142=) c.364_367delinsCAGG (p.Gln122=) n.354_357delinsCAGG c.448_451delinsCAGG (p.Gln150=) c.2236_2239delinsCAGG (p.Gln746=) c.2209_2212delinsCAGG (p.Gln737=) c.1840_1843delinsCAGG (p.Gln614=) c.1177_1180delinsCAGG (p.Gln393=)
1	g.6452071A>C	CA338100229	ESPN	c.330A>C c.602A>C (p.Gln201Pro) c.368A>C (p.Gln123Pro) c.355A>C c.2300A>C (p.Gln767Pro) c.425A>C (p.Gln142Pro) c.365A>C (p.Gln122Pro) n.355A>C c.449A>C (p.Gln150Pro) c.2237A>C (p.Gln746Pro) c.2210A>C (p.Gln737Pro) c.1841A>C (p.Gln614Pro) c.1178A>C (p.Gln393Pro)
1	g.6452071A>G	CA338100230	ESPN	c.330A>G c.602A>G (p.Gln201Arg) c.368A>G (p.Gln123Arg) c.355A>G c.2300A>G (p.Gln767Arg) c.425A>G (p.Gln142Arg) c.365A>G (p.Gln122Arg) n.355A>G c.449A>G (p.Gln150Arg) c.2237A>G (p.Gln746Arg) c.2210A>G (p.Gln737Arg) c.1841A>G (p.Gln614Arg) c.1178A>G (p.Gln393Arg)	gnomAD v4
1	g.6452071A>T	CA338100232	ESPN	c.330A>T c.602A>T (p.Gln201Leu) c.368A>T (p.Gln123Leu) c.355A>T c.2300A>T (p.Gln767Leu) c.425A>T (p.Gln142Leu) c.365A>T (p.Gln122Leu) n.355A>T c.449A>T (p.Gln150Leu) c.2237A>T (p.Gln746Leu) c.2210A>T (p.Gln737Leu) c.1841A>T (p.Gln614Leu) c.1178A>T (p.Gln393Leu)	gnomAD v4
1	g.6452082_6452084dup	CA2500341031	ESPN	c.341_343dup c.613_615dup (p.Glu205_Gln206insGlu) c.379_381dup (p.Glu127_Gln128insGlu) c.366_368dup c.2311_2313dup (p.Glu771_Gln772insGlu) c.436_438dup (p.Glu146_Gln147insGlu) c.376_378dup (p.Glu126_Gln127insGlu) n.366_368dup c.460_462dup (p.Glu154_Gln155insGlu) c.2248_2250dup (p.Glu750_Gln751insGlu) c.2221_2223dup (p.Glu741_Gln742insGlu) c.1852_1854dup (p.Glu618_Gln619insGlu) c.1189_1191dup (p.Glu397_Gln398insGlu)	gnomAD v4
1	g.6452082_6452084del	CA416021485	ESPN	c.341_343del c.613_615del (p.Glu205del) c.379_381del (p.Glu127del) c.366_368del c.2311_2313del (p.Glu771del) c.436_438del (p.Glu146del) c.376_378del (p.Glu126del) n.366_368del c.460_462del (p.Glu154del) c.2248_2250del (p.Glu750del) c.2221_2223del (p.Glu741del) c.1852_1854del (p.Glu618del) c.1189_1191del (p.Glu397del)	dbSNP gnomAD v2 gnomAD v4
1	g.6452072G>A	CA416021488	ESPN	c.331G>A c.603G>A (p.Gln201=) c.369G>A (p.Gln123=) c.356G>A c.2301G>A (p.Gln767=) c.426G>A (p.Gln142=) c.366G>A (p.Gln122=) n.356G>A c.450G>A (p.Gln150=) c.2238G>A (p.Gln746=) c.2211G>A (p.Gln737=) c.1842G>A (p.Gln614=) c.1179G>A (p.Gln393=)	dbSNP gnomAD v3 gnomAD v4
1	g.6452072G>C	CA338100234	ESPN	c.331G>C c.603G>C (p.Gln201His) c.369G>C (p.Gln123His) c.356G>C c.2301G>C (p.Gln767His) c.426G>C (p.Gln142His) c.366G>C (p.Gln122His) n.356G>C c.450G>C (p.Gln150His) c.2238G>C (p.Gln746His) c.2211G>C (p.Gln737His) c.1842G>C (p.Gln614His) c.1179G>C (p.Gln393His)
1	g.6452072G=	CA1151533852	ESPN	c.331G= c.603G= (p.Gln201=) c.369G= (p.Gln123=) c.356G= c.2301G= (p.Gln767=) c.426G= (p.Gln142=) c.366G= (p.Gln122=) n.356G= c.450G= (p.Gln150=) c.2238G= (p.Gln746=) c.2211G= (p.Gln737=) c.1842G= (p.Gln614=) c.1179G= (p.Gln393=)
1	g.6452072G>T	CA338100236	ESPN	c.331G>T c.603G>T (p.Gln201His) c.369G>T (p.Gln123His) c.356G>T c.2301G>T (p.Gln767His) c.426G>T (p.Gln142His) c.366G>T (p.Gln122His) n.356G>T c.450G>T (p.Gln150His) c.2238G>T (p.Gln746His) c.2211G>T (p.Gln737His) c.1842G>T (p.Gln614His) c.1179G>T (p.Gln393His)	gnomAD v4
1	g.6452073G>A	CA338100237	ESPN	c.332G>A c.604G>A (p.Glu202Lys) c.370G>A (p.Glu124Lys) c.357G>A c.2302G>A (p.Glu768Lys) c.427G>A (p.Glu143Lys) c.367G>A (p.Glu123Lys) n.357G>A c.451G>A (p.Glu151Lys) c.2239G>A (p.Glu747Lys) c.2212G>A (p.Glu738Lys) c.1843G>A (p.Glu615Lys) c.1180G>A (p.Glu394Lys)	dbSNP gnomAD v2
1	g.6452073G>C	CA560446	ESPN	c.332G>C c.604G>C (p.Glu202Gln) c.370G>C (p.Glu124Gln) c.357G>C c.2302G>C (p.Glu768Gln) c.427G>C (p.Glu143Gln) c.367G>C (p.Glu123Gln) n.357G>C c.451G>C (p.Glu151Gln) c.2239G>C (p.Glu747Gln) c.2212G>C (p.Glu738Gln) c.1843G>C (p.Glu615Gln) c.1180G>C (p.Glu394Gln)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1	g.6452073G=	CA1151533856	ESPN	c.332G= c.604G= (p.Glu202=) c.370G= (p.Glu124=) c.357G= c.2302G= (p.Glu768=) c.427G= (p.Glu143=) c.367G= (p.Glu123=) n.357G= c.451G= (p.Glu151=) c.2239G= (p.Glu747=) c.2212G= (p.Glu738=) c.1843G= (p.Glu615=) c.1180G= (p.Glu394=)
1	g.6452073G>T	CA338100238	ESPN	c.332G>T c.604G>T (p.Glu202Ter) c.370G>T (p.Glu124Ter) c.357G>T c.2302G>T (p.Glu768Ter) c.427G>T (p.Glu143Ter) c.367G>T (p.Glu123Ter) n.357G>T c.451G>T (p.Glu151Ter) c.2239G>T (p.Glu747Ter) c.2212G>T (p.Glu738Ter) c.1843G>T (p.Glu615Ter) c.1180G>T (p.Glu394Ter)	gnomAD v4
1	g.6452074del	CA2742316103	ESPN	c.333del c.605del (p.Glu202GlyfsTer?) c.371del (p.Glu124GlyfsTer?) c.358del c.2303del (p.Glu768GlyfsTer9) c.428del (p.Glu143GlyfsTer?) c.2303del (p.Glu768GlyfsTer?) c.368del (p.Glu123GlyfsTer?) n.358del c.452del (p.Glu151GlyfsTer?) c.2240del (p.Glu747GlyfsTer?) c.2240del (p.Glu747GlyfsTer9) c.2213del (p.Glu738GlyfsTer9) c.1844del (p.Glu615GlyfsTer9) c.1181del (p.Glu394GlyfsTer9) c.2213del (p.Glu738GlyfsTer?) c.428del (p.Glu143GlyfsTer9)
1	g.6452074A>C	CA338100239	ESPN	c.333A>C c.605A>C (p.Glu202Ala) c.371A>C (p.Glu124Ala) c.358A>C c.2303A>C (p.Glu768Ala) c.428A>C (p.Glu143Ala) c.368A>C (p.Glu123Ala) n.358A>C c.452A>C (p.Glu151Ala) c.2240A>C (p.Glu747Ala) c.2213A>C (p.Glu738Ala) c.1844A>C (p.Glu615Ala) c.1181A>C (p.Glu394Ala)
1	g.6452074A>G	CA338100240	ESPN	c.333A>G c.605A>G (p.Glu202Gly) c.371A>G (p.Glu124Gly) c.358A>G c.2303A>G (p.Glu768Gly) c.428A>G (p.Glu143Gly) c.368A>G (p.Glu123Gly) n.358A>G c.452A>G (p.Glu151Gly) c.2240A>G (p.Glu747Gly) c.2213A>G (p.Glu738Gly) c.1844A>G (p.Glu615Gly) c.1181A>G (p.Glu394Gly)
1	g.6452074A>T	CA338100241	ESPN	c.333A>T c.605A>T (p.Glu202Val) c.371A>T (p.Glu124Val) c.358A>T c.2303A>T (p.Glu768Val) c.428A>T (p.Glu143Val) c.368A>T (p.Glu123Val) n.358A>T c.452A>T (p.Glu151Val) c.2240A>T (p.Glu747Val) c.2213A>T (p.Glu738Val) c.1844A>T (p.Glu615Val) c.1181A>T (p.Glu394Val)
1	g.6452075G>A	CA416021493	ESPN	c.334G>A c.606G>A (p.Glu202=) c.372G>A (p.Glu124=) c.359G>A c.2304G>A (p.Glu768=) c.429G>A (p.Glu143=) c.369G>A (p.Glu123=) n.359G>A c.453G>A (p.Glu151=) c.2241G>A (p.Glu747=) c.2214G>A (p.Glu738=) c.1845G>A (p.Glu615=) c.1182G>A (p.Glu394=)	gnomAD v4
1	g.6452075G>C	CA338100242	ESPN	c.334G>C c.606G>C (p.Glu202Asp) c.372G>C (p.Glu124Asp) c.359G>C c.2304G>C (p.Glu768Asp) c.429G>C (p.Glu143Asp) c.369G>C (p.Glu123Asp) n.359G>C c.453G>C (p.Glu151Asp) c.2241G>C (p.Glu747Asp) c.2214G>C (p.Glu738Asp) c.1845G>C (p.Glu615Asp) c.1182G>C (p.Glu394Asp)
1	g.6452075G>T	CA338100243	ESPN	c.334G>T c.606G>T (p.Glu202Asp) c.372G>T (p.Glu124Asp) c.359G>T c.2304G>T (p.Glu768Asp) c.429G>T (p.Glu143Asp) c.369G>T (p.Glu123Asp) n.359G>T c.453G>T (p.Glu151Asp) c.2241G>T (p.Glu747Asp) c.2214G>T (p.Glu738Asp) c.1845G>T (p.Glu615Asp) c.1182G>T (p.Glu394Asp)	gnomAD v4
1	g.6452076G>A	CA338100244	ESPN	c.335G>A c.607G>A (p.Glu203Lys) c.373G>A (p.Glu125Lys) c.360G>A c.2305G>A (p.Glu769Lys) c.430G>A (p.Glu144Lys) c.370G>A (p.Glu124Lys) n.360G>A c.454G>A (p.Glu152Lys) c.2242G>A (p.Glu748Lys) c.2215G>A (p.Glu739Lys) c.1846G>A (p.Glu616Lys) c.1183G>A (p.Glu395Lys)	gnomAD v4
1	g.6452076G>C	CA338100246	ESPN	c.335G>C c.607G>C (p.Glu203Gln) c.373G>C (p.Glu125Gln) c.360G>C c.2305G>C (p.Glu769Gln) c.430G>C (p.Glu144Gln) c.370G>C (p.Glu124Gln) n.360G>C c.454G>C (p.Glu152Gln) c.2242G>C (p.Glu748Gln) c.2215G>C (p.Glu739Gln) c.1846G>C (p.Glu616Gln) c.1183G>C (p.Glu395Gln)
1	g.6452076G>T	CA338100245	ESPN	c.335G>T c.607G>T (p.Glu203Ter) c.373G>T (p.Glu125Ter) c.360G>T c.2305G>T (p.Glu769Ter) c.430G>T (p.Glu144Ter) c.370G>T (p.Glu124Ter) n.360G>T c.454G>T (p.Glu152Ter) c.2242G>T (p.Glu748Ter) c.2215G>T (p.Glu739Ter) c.1846G>T (p.Glu616Ter) c.1183G>T (p.Glu395Ter)	gnomAD v4
1	g.6452077A>C	CA338100247	ESPN	c.336A>C c.608A>C (p.Glu203Ala) c.374A>C (p.Glu125Ala) c.361A>C c.2306A>C (p.Glu769Ala) c.431A>C (p.Glu144Ala) c.371A>C (p.Glu124Ala) n.361A>C c.455A>C (p.Glu152Ala) c.2243A>C (p.Glu748Ala) c.2216A>C (p.Glu739Ala) c.1847A>C (p.Glu616Ala) c.1184A>C (p.Glu395Ala)
1	g.6452077A>G	CA338100248	ESPN	c.336A>G c.608A>G (p.Glu203Gly) c.374A>G (p.Glu125Gly) c.361A>G c.2306A>G (p.Glu769Gly) c.431A>G (p.Glu144Gly) c.371A>G (p.Glu124Gly) n.361A>G c.455A>G (p.Glu152Gly) c.2243A>G (p.Glu748Gly) c.2216A>G (p.Glu739Gly) c.1847A>G (p.Glu616Gly) c.1184A>G (p.Glu395Gly)	gnomAD v4
1	g.6452077A>T	CA338100249	ESPN	c.336A>T c.608A>T (p.Glu203Val) c.374A>T (p.Glu125Val) c.361A>T c.2306A>T (p.Glu769Val) c.431A>T (p.Glu144Val) c.371A>T (p.Glu124Val) n.361A>T c.455A>T (p.Glu152Val) c.2243A>T (p.Glu748Val) c.2216A>T (p.Glu739Val) c.1847A>T (p.Glu616Val) c.1184A>T (p.Glu395Val)
1	g.6452078G>A	CA416021501	ESPN	c.337G>A c.609G>A (p.Glu203=) c.375G>A (p.Glu125=) c.362G>A c.2307G>A (p.Glu769=) c.432G>A (p.Glu144=) c.372G>A (p.Glu124=) n.362G>A c.456G>A (p.Glu152=) c.2244G>A (p.Glu748=) c.2217G>A (p.Glu739=) c.1848G>A (p.Glu616=) c.1185G>A (p.Glu395=)
1	g.6452078G>C	CA338100250	ESPN	c.337G>C c.609G>C (p.Glu203Asp) c.375G>C (p.Glu125Asp) c.362G>C c.2307G>C (p.Glu769Asp) c.432G>C (p.Glu144Asp) c.372G>C (p.Glu124Asp) n.362G>C c.456G>C (p.Glu152Asp) c.2244G>C (p.Glu748Asp) c.2217G>C (p.Glu739Asp) c.1848G>C (p.Glu616Asp) c.1185G>C (p.Glu395Asp)
1	g.6452078G>T	CA338100251	ESPN	c.337G>T c.609G>T (p.Glu203Asp) c.375G>T (p.Glu125Asp) c.362G>T c.2307G>T (p.Glu769Asp) c.432G>T (p.Glu144Asp) c.372G>T (p.Glu124Asp) n.362G>T c.456G>T (p.Glu152Asp) c.2244G>T (p.Glu748Asp) c.2217G>T (p.Glu739Asp) c.1848G>T (p.Glu616Asp) c.1185G>T (p.Glu395Asp)	gnomAD v4
1	g.6452079G>A	CA338100252	ESPN	c.338G>A c.610G>A (p.Glu204Lys) c.376G>A (p.Glu126Lys) c.363G>A c.2308G>A (p.Glu770Lys) c.433G>A (p.Glu145Lys) c.373G>A (p.Glu125Lys) n.363G>A c.457G>A (p.Glu153Lys) c.2245G>A (p.Glu749Lys) c.2218G>A (p.Glu740Lys) c.1849G>A (p.Glu617Lys) c.1186G>A (p.Glu396Lys)	gnomAD v4
1	g.6452079G>C	CA338100253	ESPN	c.338G>C c.610G>C (p.Glu204Gln) c.376G>C (p.Glu126Gln) c.363G>C c.2308G>C (p.Glu770Gln) c.433G>C (p.Glu145Gln) c.373G>C (p.Glu125Gln) n.363G>C c.457G>C (p.Glu153Gln) c.2245G>C (p.Glu749Gln) c.2218G>C (p.Glu740Gln) c.1849G>C (p.Glu617Gln) c.1186G>C (p.Glu396Gln)
1	g.6452079G>T	CA338100254	ESPN	c.338G>T c.610G>T (p.Glu204Ter) c.376G>T (p.Glu126Ter) c.363G>T c.2308G>T (p.Glu770Ter) c.433G>T (p.Glu145Ter) c.373G>T (p.Glu125Ter) n.363G>T c.457G>T (p.Glu153Ter) c.2245G>T (p.Glu749Ter) c.2218G>T (p.Glu740Ter) c.1849G>T (p.Glu617Ter) c.1186G>T (p.Glu396Ter)	gnomAD v4
1	g.6452080A>C	CA338100255	ESPN	c.339A>C c.611A>C (p.Glu204Ala) c.377A>C (p.Glu126Ala) c.364A>C c.2309A>C (p.Glu770Ala) c.434A>C (p.Glu145Ala) c.374A>C (p.Glu125Ala) n.364A>C c.458A>C (p.Glu153Ala) c.2246A>C (p.Glu749Ala) c.2219A>C (p.Glu740Ala) c.1850A>C (p.Glu617Ala) c.1187A>C (p.Glu396Ala)
1	g.6452080A>G	CA338100256	ESPN	c.339A>G c.611A>G (p.Glu204Gly) c.377A>G (p.Glu126Gly) c.364A>G c.2309A>G (p.Glu770Gly) c.434A>G (p.Glu145Gly) c.374A>G (p.Glu125Gly) n.364A>G c.458A>G (p.Glu153Gly) c.2246A>G (p.Glu749Gly) c.2219A>G (p.Glu740Gly) c.1850A>G (p.Glu617Gly) c.1187A>G (p.Glu396Gly)
1	g.6452080A>T	CA338100257	ESPN	c.339A>T c.611A>T (p.Glu204Val) c.377A>T (p.Glu126Val) c.364A>T c.2309A>T (p.Glu770Val) c.434A>T (p.Glu145Val) c.374A>T (p.Glu125Val) n.364A>T c.458A>T (p.Glu153Val) c.2246A>T (p.Glu749Val) c.2219A>T (p.Glu740Val) c.1850A>T (p.Glu617Val) c.1187A>T (p.Glu396Val)
1	g.6452081G>A	CA416021506	ESPN	c.340G>A c.612G>A (p.Glu204=) c.378G>A (p.Glu126=) c.365G>A c.2310G>A (p.Glu770=) c.435G>A (p.Glu145=) c.375G>A (p.Glu125=) n.365G>A c.459G>A (p.Glu153=) c.2247G>A (p.Glu749=) c.2220G>A (p.Glu740=) c.1851G>A (p.Glu617=) c.1188G>A (p.Glu396=)	dbSNP gnomAD v3 gnomAD v4
1	g.6452081G>C	CA338100259	ESPN	c.340G>C c.612G>C (p.Glu204Asp) c.378G>C (p.Glu126Asp) c.365G>C c.2310G>C (p.Glu770Asp) c.435G>C (p.Glu145Asp) c.375G>C (p.Glu125Asp) n.365G>C c.459G>C (p.Glu153Asp) c.2247G>C (p.Glu749Asp) c.2220G>C (p.Glu740Asp) c.1851G>C (p.Glu617Asp) c.1188G>C (p.Glu396Asp)
1	g.6452081G=	CA1151533862	ESPN	c.340G= c.612G= (p.Glu204=) c.378G= (p.Glu126=) c.365G= c.2310G= (p.Glu770=) c.435G= (p.Glu145=) c.375G= (p.Glu125=) n.365G= c.459G= (p.Glu153=) c.2247G= (p.Glu749=) c.2220G= (p.Glu740=) c.1851G= (p.Glu617=) c.1188G= (p.Glu396=)
1	g.6452081G>T	CA338100258	ESPN	c.340G>T c.612G>T (p.Glu204Asp) c.378G>T (p.Glu126Asp) c.365G>T c.2310G>T (p.Glu770Asp) c.435G>T (p.Glu145Asp) c.375G>T (p.Glu125Asp) n.365G>T c.459G>T (p.Glu153Asp) c.2247G>T (p.Glu749Asp) c.2220G>T (p.Glu740Asp) c.1851G>T (p.Glu617Asp) c.1188G>T (p.Glu396Asp)	gnomAD v4
1	g.6452082G>A	CA338100260	ESPN	c.341G>A c.613G>A (p.Glu205Lys) c.379G>A (p.Glu127Lys) c.366G>A c.2311G>A (p.Glu771Lys) c.436G>A (p.Glu146Lys) c.376G>A (p.Glu126Lys) n.366G>A c.460G>A (p.Glu154Lys) c.2248G>A (p.Glu750Lys) c.2221G>A (p.Glu741Lys) c.1852G>A (p.Glu618Lys) c.1189G>A (p.Glu397Lys)	gnomAD v4
1	g.6452082G>C	CA338100262	ESPN	c.341G>C c.613G>C (p.Glu205Gln) c.379G>C (p.Glu127Gln) c.366G>C c.2311G>C (p.Glu771Gln) c.436G>C (p.Glu146Gln) c.376G>C (p.Glu126Gln) n.366G>C c.460G>C (p.Glu154Gln) c.2248G>C (p.Glu750Gln) c.2221G>C (p.Glu741Gln) c.1852G>C (p.Glu618Gln) c.1189G>C (p.Glu397Gln)
1	g.6452082G>T	CA338100261	ESPN	c.341G>T c.613G>T (p.Glu205Ter) c.379G>T (p.Glu127Ter) c.366G>T c.2311G>T (p.Glu771Ter) c.436G>T (p.Glu146Ter) c.376G>T (p.Glu126Ter) n.366G>T c.460G>T (p.Glu154Ter) c.2248G>T (p.Glu750Ter) c.2221G>T (p.Glu741Ter) c.1852G>T (p.Glu618Ter) c.1189G>T (p.Glu397Ter)	gnomAD v4
1	g.6452083A>C	CA338100263	ESPN	c.342A>C c.614A>C (p.Glu205Ala) c.380A>C (p.Glu127Ala) c.367A>C c.2312A>C (p.Glu771Ala) c.437A>C (p.Glu146Ala) c.377A>C (p.Glu126Ala) n.367A>C c.461A>C (p.Glu154Ala) c.2249A>C (p.Glu750Ala) c.2222A>C (p.Glu741Ala) c.1853A>C (p.Glu618Ala) c.1190A>C (p.Glu397Ala)
1	g.6452083A>G	CA338100264	ESPN	c.342A>G c.614A>G (p.Glu205Gly) c.380A>G (p.Glu127Gly) c.367A>G c.2312A>G (p.Glu771Gly) c.437A>G (p.Glu146Gly) c.377A>G (p.Glu126Gly) n.367A>G c.461A>G (p.Glu154Gly) c.2249A>G (p.Glu750Gly) c.2222A>G (p.Glu741Gly) c.1853A>G (p.Glu618Gly) c.1190A>G (p.Glu397Gly)
1	g.6452083A>T	CA338100265	ESPN	c.342A>T c.614A>T (p.Glu205Val) c.380A>T (p.Glu127Val) c.367A>T c.2312A>T (p.Glu771Val) c.437A>T (p.Glu146Val) c.377A>T (p.Glu126Val) n.367A>T c.461A>T (p.Glu154Val) c.2249A>T (p.Glu750Val) c.2222A>T (p.Glu741Val) c.1853A>T (p.Glu618Val) c.1190A>T (p.Glu397Val)
1	g.6452084G>A	CA416021513	ESPN	c.343G>A c.615G>A (p.Glu205=) c.381G>A (p.Glu127=) c.368G>A c.2313G>A (p.Glu771=) c.438G>A (p.Glu146=) c.378G>A (p.Glu126=) n.368G>A c.462G>A (p.Glu154=) c.2250G>A (p.Glu750=) c.2223G>A (p.Glu741=) c.1854G>A (p.Glu618=) c.1191G>A (p.Glu397=)	gnomAD v4
1	g.6452084G>C	CA338100266	ESPN	c.343G>C c.615G>C (p.Glu205Asp) c.381G>C (p.Glu127Asp) c.368G>C c.2313G>C (p.Glu771Asp) c.438G>C (p.Glu146Asp) c.378G>C (p.Glu126Asp) n.368G>C c.462G>C (p.Glu154Asp) c.2250G>C (p.Glu750Asp) c.2223G>C (p.Glu741Asp) c.1854G>C (p.Glu618Asp) c.1191G>C (p.Glu397Asp)
1	g.6452084G>T	CA338100267	ESPN	c.343G>T c.615G>T (p.Glu205Asp) c.381G>T (p.Glu127Asp) c.368G>T c.2313G>T (p.Glu771Asp) c.438G>T (p.Glu146Asp) c.378G>T (p.Glu126Asp) n.368G>T c.462G>T (p.Glu154Asp) c.2250G>T (p.Glu750Asp) c.2223G>T (p.Glu741Asp) c.1854G>T (p.Glu618Asp) c.1191G>T (p.Glu397Asp)	gnomAD v4
1	g.6452085del	CA2642978636	ESPN	c.344del c.616del (p.Gln206ArgfsTer?) c.382del (p.Gln128ArgfsTer?) c.369del c.2314del (p.Gln772ArgfsTer5) c.439del (p.Gln147ArgfsTer?) c.2314del (p.Gln772ArgfsTer?) c.379del (p.Gln127ArgfsTer?) n.369del c.463del (p.Gln155ArgfsTer?) c.2251del (p.Gln751ArgfsTer?) c.2251del (p.Gln751ArgfsTer5) c.2224del (p.Gln742ArgfsTer5) c.1855del (p.Gln619ArgfsTer5) c.1192del (p.Gln398ArgfsTer5) c.2224del (p.Gln742ArgfsTer?) c.439del (p.Gln147ArgfsTer5)	gnomAD v4
1	g.6452085C>A	CA338100268	ESPN	c.344C>A c.616C>A (p.Gln206Lys) c.382C>A (p.Gln128Lys) c.369C>A c.2314C>A (p.Gln772Lys) c.439C>A (p.Gln147Lys) c.379C>A (p.Gln127Lys) n.369C>A c.463C>A (p.Gln155Lys) c.2251C>A (p.Gln751Lys) c.2224C>A (p.Gln742Lys) c.1855C>A (p.Gln619Lys) c.1192C>A (p.Gln398Lys)	gnomAD v4
1	g.6452085C>G	CA338100269	ESPN	c.344C>G c.616C>G (p.Gln206Glu) c.382C>G (p.Gln128Glu) c.369C>G c.2314C>G (p.Gln772Glu) c.439C>G (p.Gln147Glu) c.379C>G (p.Gln127Glu) n.369C>G c.463C>G (p.Gln155Glu) c.2251C>G (p.Gln751Glu) c.2224C>G (p.Gln742Glu) c.1855C>G (p.Gln619Glu) c.1192C>G (p.Gln398Glu)
1	g.6452085C>T	CA338100270	ESPN	c.344C>T c.616C>T (p.Gln206Ter) c.382C>T (p.Gln128Ter) c.369C>T c.2314C>T (p.Gln772Ter) c.439C>T (p.Gln147Ter) c.379C>T (p.Gln127Ter) n.369C>T c.463C>T (p.Gln155Ter) c.2251C>T (p.Gln751Ter) c.2224C>T (p.Gln742Ter) c.1855C>T (p.Gln619Ter) c.1192C>T (p.Gln398Ter)	gnomAD v4
1	g.6452086A>C	CA338100271	ESPN	c.345A>C c.617A>C (p.Gln206Pro) c.383A>C (p.Gln128Pro) c.370A>C c.2315A>C (p.Gln772Pro) c.440A>C (p.Gln147Pro) c.380A>C (p.Gln127Pro) n.370A>C c.464A>C (p.Gln155Pro) c.2252A>C (p.Gln751Pro) c.2225A>C (p.Gln742Pro) c.1856A>C (p.Gln619Pro) c.1193A>C (p.Gln398Pro)
1	g.6452086A>G	CA338100272	ESPN	c.345A>G c.617A>G (p.Gln206Arg) c.383A>G (p.Gln128Arg) c.370A>G c.2315A>G (p.Gln772Arg) c.440A>G (p.Gln147Arg) c.380A>G (p.Gln127Arg) n.370A>G c.464A>G (p.Gln155Arg) c.2252A>G (p.Gln751Arg) c.2225A>G (p.Gln742Arg) c.1856A>G (p.Gln619Arg) c.1193A>G (p.Gln398Arg)	gnomAD v4
1	g.6452086A>T	CA338100273	ESPN	c.345A>T c.617A>T (p.Gln206Leu) c.383A>T (p.Gln128Leu) c.370A>T c.2315A>T (p.Gln772Leu) c.440A>T (p.Gln147Leu) c.380A>T (p.Gln127Leu) n.370A>T c.464A>T (p.Gln155Leu) c.2252A>T (p.Gln751Leu) c.2225A>T (p.Gln742Leu) c.1856A>T (p.Gln619Leu) c.1193A>T (p.Gln398Leu)
1	g.6452087G>A	CA416021519	ESPN	c.346G>A c.618G>A (p.Gln206=) c.384G>A (p.Gln128=) c.371G>A c.2316G>A (p.Gln772=) c.441G>A (p.Gln147=) c.381G>A (p.Gln127=) n.371G>A c.465G>A (p.Gln155=) c.2253G>A (p.Gln751=) c.2226G>A (p.Gln742=) c.1857G>A (p.Gln619=) c.1194G>A (p.Gln398=)
1	g.6452087G>C	CA338100275	ESPN	c.346G>C c.618G>C (p.Gln206His) c.384G>C (p.Gln128His) c.371G>C c.2316G>C (p.Gln772His) c.441G>C (p.Gln147His) c.381G>C (p.Gln127His) n.371G>C c.465G>C (p.Gln155His) c.2253G>C (p.Gln751His) c.2226G>C (p.Gln742His) c.1857G>C (p.Gln619His) c.1194G>C (p.Gln398His)
1	g.6452087G>T	CA338100274	ESPN	c.346G>T c.618G>T (p.Gln206His) c.384G>T (p.Gln128His) c.371G>T c.2316G>T (p.Gln772His) c.441G>T (p.Gln147His) c.381G>T (p.Gln127His) n.371G>T c.465G>T (p.Gln155His) c.2253G>T (p.Gln751His) c.2226G>T (p.Gln742His) c.1857G>T (p.Gln619His) c.1194G>T (p.Gln398His)	gnomAD v4
1	g.6452088A>C	CA416021520	ESPN	c.347A>C c.619A>C (p.Arg207=) c.385A>C (p.Arg129=) c.372A>C c.2317A>C (p.Arg773=) c.442A>C (p.Arg148=) c.382A>C (p.Arg128=) n.372A>C c.466A>C (p.Arg156=) c.2254A>C (p.Arg752=) c.2227A>C (p.Arg743=) c.1858A>C (p.Arg620=) c.1195A>C (p.Arg399=)
1	g.6452088A>G	CA338100276	ESPN	c.347A>G c.619A>G (p.Arg207Gly) c.385A>G (p.Arg129Gly) c.372A>G c.2317A>G (p.Arg773Gly) c.442A>G (p.Arg148Gly) c.382A>G (p.Arg128Gly) n.372A>G c.466A>G (p.Arg156Gly) c.2254A>G (p.Arg752Gly) c.2227A>G (p.Arg743Gly) c.1858A>G (p.Arg620Gly) c.1195A>G (p.Arg399Gly)	gnomAD v4
1	g.6452088A>T	CA338100277	ESPN	c.347A>T c.619A>T (p.Arg207Trp) c.385A>T (p.Arg129Trp) c.372A>T c.2317A>T (p.Arg773Trp) c.442A>T (p.Arg148Trp) c.382A>T (p.Arg128Trp) n.372A>T c.466A>T (p.Arg156Trp) c.2254A>T (p.Arg752Trp) c.2227A>T (p.Arg743Trp) c.1858A>T (p.Arg620Trp) c.1195A>T (p.Arg399Trp)
1	g.6452089G>A	CA338100278	ESPN	c.348G>A c.620G>A (p.Arg207Lys) c.386G>A (p.Arg129Lys) c.373G>A c.2318G>A (p.Arg773Lys) c.443G>A (p.Arg148Lys) c.383G>A (p.Arg128Lys) n.373G>A c.467G>A (p.Arg156Lys) c.2255G>A (p.Arg752Lys) c.2228G>A (p.Arg743Lys) c.1859G>A (p.Arg620Lys) c.1196G>A (p.Arg399Lys)	dbSNP gnomAD v2 gnomAD v4
1	g.6452089G>C	CA338100279	ESPN	c.348G>C c.620G>C (p.Arg207Thr) c.386G>C (p.Arg129Thr) c.373G>C c.2318G>C (p.Arg773Thr) c.443G>C (p.Arg148Thr) c.383G>C (p.Arg128Thr) n.373G>C c.467G>C (p.Arg156Thr) c.2255G>C (p.Arg752Thr) c.2228G>C (p.Arg743Thr) c.1859G>C (p.Arg620Thr) c.1196G>C (p.Arg399Thr)
1	g.6452089G=	CA1151533865	ESPN	c.348G= c.620G= (p.Arg207=) c.386G= (p.Arg129=) c.373G= c.2318G= (p.Arg773=) c.443G= (p.Arg148=) c.383G= (p.Arg128=) n.373G= c.467G= (p.Arg156=) c.2255G= (p.Arg752=) c.2228G= (p.Arg743=) c.1859G= (p.Arg620=) c.1196G= (p.Arg399=)
1	g.6452089G>T	CA338100280	ESPN	c.348G>T c.620G>T (p.Arg207Met) c.386G>T (p.Arg129Met) c.373G>T c.2318G>T (p.Arg773Met) c.443G>T (p.Arg148Met) c.383G>T (p.Arg128Met) n.373G>T c.467G>T (p.Arg156Met) c.2255G>T (p.Arg752Met) c.2228G>T (p.Arg743Met) c.1859G>T (p.Arg620Met) c.1196G>T (p.Arg399Met)	gnomAD v4
1	g.6452090G>A	CA416021527	ESPN	c.349G>A c.621G>A (p.Arg207=) c.387G>A (p.Arg129=) c.374G>A c.2319G>A (p.Arg773=) c.444G>A (p.Arg148=) c.384G>A (p.Arg128=) n.374G>A c.468G>A (p.Arg156=) c.2256G>A (p.Arg752=) c.2229G>A (p.Arg743=) c.1860G>A (p.Arg620=) c.1197G>A (p.Arg399=)
1	g.6452090G>C	CA338100281	ESPN	c.349G>C c.621G>C (p.Arg207Ser) c.387G>C (p.Arg129Ser) c.374G>C c.2319G>C (p.Arg773Ser) c.444G>C (p.Arg148Ser) c.384G>C (p.Arg128Ser) n.374G>C c.468G>C (p.Arg156Ser) c.2256G>C (p.Arg752Ser) c.2229G>C (p.Arg743Ser) c.1860G>C (p.Arg620Ser) c.1197G>C (p.Arg399Ser)	gnomAD v4
1	g.6452090G>T	CA338100282	ESPN	c.349G>T c.621G>T (p.Arg207Ser) c.387G>T (p.Arg129Ser) c.374G>T c.2319G>T (p.Arg773Ser) c.444G>T (p.Arg148Ser) c.384G>T (p.Arg128Ser) n.374G>T c.468G>T (p.Arg156Ser) c.2256G>T (p.Arg752Ser) c.2229G>T (p.Arg743Ser) c.1860G>T (p.Arg620Ser) c.1197G>T (p.Arg399Ser)	gnomAD v4
1	g.6452091C>A	CA416021528	ESPN	c.350C>A c.622C>A (p.Arg208=) c.388C>A (p.Arg130=) c.375C>A c.2320C>A (p.Arg774=) c.445C>A (p.Arg149=) c.385C>A (p.Arg129=) n.375C>A c.469C>A (p.Arg157=) c.2257C>A (p.Arg753=) c.2230C>A (p.Arg744=) c.1861C>A (p.Arg621=) c.1198C>A (p.Arg400=)	gnomAD v4
1	g.6452091C=	CA1144339435	ESPN	c.350C= c.622C= (p.Arg208=) c.388C= (p.Arg130=) c.375C= c.2320C= (p.Arg774=) c.445C= (p.Arg149=) c.385C= (p.Arg129=) n.375C= c.469C= (p.Arg157=) c.2257C= (p.Arg753=) c.2230C= (p.Arg744=) c.1861C= (p.Arg621=) c.1198C= (p.Arg400=)
1	g.6452091C>G	CA338100283	ESPN	c.350C>G c.622C>G (p.Arg208Gly) c.388C>G (p.Arg130Gly) c.375C>G c.2320C>G (p.Arg774Gly) c.445C>G (p.Arg149Gly) c.385C>G (p.Arg129Gly) n.375C>G c.469C>G (p.Arg157Gly) c.2257C>G (p.Arg753Gly) c.2230C>G (p.Arg744Gly) c.1861C>G (p.Arg621Gly) c.1198C>G (p.Arg400Gly)
1	g.6452091C>T	CA560447	ESPN	c.350C>T c.622C>T (p.Arg208Trp) c.388C>T (p.Arg130Trp) c.375C>T c.2320C>T (p.Arg774Trp) c.445C>T (p.Arg149Trp) c.385C>T (p.Arg129Trp) n.375C>T c.469C>T (p.Arg157Trp) c.2257C>T (p.Arg753Trp) c.2230C>T (p.Arg744Trp) c.1861C>T (p.Arg621Trp) c.1198C>T (p.Arg400Trp)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1	g.6452092G>A	CA116851	ESPN	c.351G>A c.623G>A (p.Arg208Gln) c.389G>A (p.Arg130Gln) c.376G>A c.2321G>A (p.Arg774Gln) c.446G>A (p.Arg149Gln) c.386G>A (p.Arg129Gln) n.376G>A c.470G>A (p.Arg157Gln) c.2258G>A (p.Arg753Gln) c.2231G>A (p.Arg744Gln) c.1862G>A (p.Arg621Gln) c.1199G>A (p.Arg400Gln)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1	g.6452092G>C	CA338100284	ESPN	c.351G>C c.623G>C (p.Arg208Pro) c.389G>C (p.Arg130Pro) c.376G>C c.2321G>C (p.Arg774Pro) c.446G>C (p.Arg149Pro) c.386G>C (p.Arg129Pro) n.376G>C c.470G>C (p.Arg157Pro) c.2258G>C (p.Arg753Pro) c.2231G>C (p.Arg744Pro) c.1862G>C (p.Arg621Pro) c.1199G>C (p.Arg400Pro)	gnomAD v4
1	g.6452092G=	CA1141580552	ESPN	c.351G= c.623G= (p.Arg208=) c.389G= (p.Arg130=) c.376G= c.2321G= (p.Arg774=) c.446G= (p.Arg149=) c.386G= (p.Arg129=) n.376G= c.470G= (p.Arg157=) c.2258G= (p.Arg753=) c.2231G= (p.Arg744=) c.1862G= (p.Arg621=) c.1199G= (p.Arg400=)
1	g.6452092G>T	CA338100285	ESPN	c.351G>T c.623G>T (p.Arg208Leu) c.389G>T (p.Arg130Leu) c.376G>T c.2321G>T (p.Arg774Leu) c.446G>T (p.Arg149Leu) c.386G>T (p.Arg129Leu) n.376G>T c.470G>T (p.Arg157Leu) c.2258G>T (p.Arg753Leu) c.2231G>T (p.Arg744Leu) c.1862G>T (p.Arg621Leu) c.1199G>T (p.Arg400Leu)	gnomAD v4

Number of alleles fetched