Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
6	g.139373343_139373370delinsATGTTGCCGCTGCCGCTGCCGCCGCCGC	CA1667372324	CITED2	c.575_602delinsGCGGCGGCGGCAGCGGCAGCGGCAACAT (p.Ser192=) c.590_617delinsGCGGCGGCGGCAGCGGCAGCGGCAACAT (p.Ser197=) c.477-73_477-46delinsGCGGCGGCGGCAGCGGCAGCGGCAACAT (n.477-73_477-46delinsGCGGCGGCGGCAGCGGCAGCGGCAACAT)
6	g.139373350_139373376dup	CA2680562547	CITED2	c.575_601dup (p.Asn200_Met201insSerGlyGlyGlySerGlySerGlyAsn) c.590_616dup (p.Asn205_Met206insSerGlyGlyGlySerGlySerGlyAsn) c.477-73_477-47dup (n.477-73_477-47dup)	gnomAD v4
6	g.139373350_139373376del	CA4025557	CITED2	c.575_601del (p.Ser192_Asn200del) c.590_616del (p.Ser197_Asn205del) c.477-73_477-47del (n.477-73_477-47del)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.139373346_139373351dup	CA4025558	CITED2	c.595_600dup (p.Asn200_Met201insGlyAsn) c.610_615dup (p.Asn205_Met206insGlyAsn) c.477-53_477-48dup (n.477-53_477-48dup)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.139373346_139373352delinsTTGCCGC	CA1667372327	CITED2	c.593_599delinsGCGGCAA (p.Ser198=) c.608_614delinsGCGGCAA (p.Ser203=) c.477-55_477-49delinsGCGGCAA (n.477-55_477-49delinsGCGGCAA)
6	g.139373359_139373364dup	CA4025561	CITED2	c.593_598dup (p.Gly199_Asn200insSerGly) c.608_613dup (p.Gly204_Asn205insSerGly) c.477-55_477-50dup (n.477-55_477-50dup)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6	g.139373359_139373364del	CA4025560	CITED2	c.593_598del (p.Ser198_Gly199del) c.608_613del (p.Ser203_Gly204del) c.477-55_477-50del (n.477-55_477-50del)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6	g.139373355_139373372del	CA2538821562	CITED2	c.580_597del (p.Gly194_Gly199del) c.595_612del (p.Gly199_Gly204del) c.477-68_477-51del (n.477-68_477-51del)	gnomAD v4
6	g.139373350C>A	CA365876647	CITED2	c.595G>T (p.Gly199Cys) c.610G>T (p.Gly204Cys) c.477-53G>T (n.477-53G>T)	dbSNP gnomAD v2 gnomAD v4
6	g.139373350C=	CA1667372332	CITED2	c.595G= (p.Gly199=) c.610G= (p.Gly204=) c.477-53G= (n.477-53G=)
6	g.139373350C>G	CA365876648	CITED2	c.595G>C (p.Gly199Arg) c.610G>C (p.Gly204Arg) c.477-53G>C (n.477-53G>C)	gnomAD v4
6	g.139373350C>T	CA4025563	CITED2	c.595G>A (p.Gly199Ser) c.610G>A (p.Gly204Ser) c.477-53G>A (n.477-53G>A)	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.139373350_139373371delinsCGCTGCCGCTGCCGCCGCCGCT	CA1667372331	CITED2	c.574_595delinsAGCGGCGGCGGCAGCGGCAGCG (p.Ser192=) c.589_610delinsAGCGGCGGCGGCAGCGGCAGCG (p.Ser197=) c.477-74_477-53delinsAGCGGCGGCGGCAGCGGCAGCG (n.477-74_477-53delinsAGCGGCGGCGGCAGCGGCAGCG)
6	g.139373351del	CA2680562548	CITED2	c.594del (p.Ser198ArgfsTer21) c.609del (p.Ser203ArgfsTer21) c.477-54del (n.477-54del)	gnomAD v4
6	g.139373351G>A	CA452441582	CITED2	c.594C>T (p.Ser198=) c.609C>T (p.Ser203=) c.477-54C>T (n.477-54C>T)	dbSNP gnomAD v3 gnomAD v4
6	g.139373351G>C	CA365876649	CITED2	c.594C>G (p.Ser198Arg) c.609C>G (p.Ser203Arg) c.477-54C>G (n.477-54C>G)	dbSNP gnomAD v2 gnomAD v4
6	g.139373351G=	CA1667372333	CITED2	c.594C= (p.Ser198=) c.609C= (p.Ser203=) c.477-54C= (n.477-54C=)
6	g.139373351G>T	CA365876650	CITED2	c.594C>A (p.Ser198Arg) c.609C>A (p.Ser203Arg) c.477-54C>A (n.477-54C>A)	gnomAD v4
6	g.139373352_139373372del	CA4025564	CITED2	c.574_594del (p.Ser192_Ser198del) c.589_609del (p.Ser197_Ser203del) c.477-74_477-54del (n.477-74_477-54del)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.139373357_139373383del	CA2680562549	CITED2	c.568_594del (p.Ser190_Ser198del) c.583_609del (p.Ser195_Ser203del) c.477-80_477-54del (n.477-80_477-54del)	gnomAD v4
6	g.139373359_139373433del	CA2680562550	CITED2	c.520_594del (p.Ser174_Ser198del) c.535_609del (p.Ser179_Ser203del) c.476+44_477-54del (n.476+44_477-54del)	gnomAD v4
6	g.139373352C>A	CA365876651	CITED2	c.593G>T (p.Ser198Ile) c.608G>T (p.Ser203Ile) c.477-55G>T (n.477-55G>T)
6	g.139373352C=	CA1667372334	CITED2	c.593G= (p.Ser198=) c.608G= (p.Ser203=) c.477-55G= (n.477-55G=)
6	g.139373352C>G	CA365876652	CITED2	c.593G>C (p.Ser198Thr) c.608G>C (p.Ser203Thr) c.477-55G>C (n.477-55G>C)
6	g.139373352C>T	CA365876653	CITED2	c.593G>A (p.Ser198Asn) c.608G>A (p.Ser203Asn) c.477-55G>A (n.477-55G>A)	dbSNP
6	g.139373353T>A	CA365876654	CITED2	c.592A>T (p.Ser198Cys) c.607A>T (p.Ser203Cys) c.477-56A>T (n.477-56A>T)
6	g.139373353T>C	CA365876655	CITED2	c.592A>G (p.Ser198Gly) c.607A>G (p.Ser203Gly) c.477-56A>G (n.477-56A>G)	dbSNP gnomAD v2 gnomAD v4
6	g.139373353T>G	CA365876656	CITED2	c.592A>C (p.Ser198Arg) c.607A>C (p.Ser203Arg) c.477-56A>C (n.477-56A>C)
6	g.139373353T=	CA1667372335	CITED2	c.592A= (p.Ser198=) c.607A= (p.Ser203=) c.477-56A= (n.477-56A=)
6	g.139373353_139373365delinsTGCCGCTGCCGCC	CA1667372336	CITED2	c.580_592delinsGGCGGCAGCGGCA (p.Gly194=) c.595_607delinsGGCGGCAGCGGCA (p.Gly199=) c.477-68_477-56delinsGGCGGCAGCGGCA (n.477-68_477-56delinsGGCGGCAGCGGCA)
6	g.139373356_139373376del	CA2713330466	CITED2	c.572_592del (p.Asn191_Gly197del) c.587_607del (p.Asn196_Gly202del) c.477-76_477-56del (n.477-76_477-56del)	dbSNP
6	g.139373354G>A	CA452441591	CITED2	c.591C>T (p.Gly197=) c.606C>T (p.Gly202=) c.477-57C>T (n.477-57C>T)	gnomAD v4
6	g.139373354G>C	CA452441588	CITED2	c.591C>G (p.Gly197=) c.606C>G (p.Gly202=) c.477-57C>G (n.477-57C>G)
6	g.139373354G>T	CA452441590	CITED2	c.591C>A (p.Gly197=) c.606C>A (p.Gly202=) c.477-57C>A (n.477-57C>A)
6	g.139373356_139373358dup	CA1667372337	CITED2	c.589_591dup (p.Gly197_Ser198insGly) c.604_606dup (p.Gly202_Ser203insGly) c.477-59_477-57dup (n.477-59_477-57dup)	dbSNP
6	g.139373361_139373372dup	CA4025566	CITED2	c.580_591dup (p.Gly197_Ser198insGlyGlySerGly) c.595_606dup (p.Gly202_Ser203insGlyGlySerGly) c.477-68_477-57dup (n.477-68_477-57dup)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.139373361_139373372del	CA4025565	CITED2	c.580_591del (p.Gly194_Gly197del) c.595_606del (p.Gly199_Gly202del) c.477-68_477-57del (n.477-68_477-57del)	dbSNP ExAC gnomAD v4
6	g.139373355C>A	CA365876657	CITED2	c.590G>T (p.Gly197Val) c.605G>T (p.Gly202Val) c.477-58G>T (n.477-58G>T)	gnomAD v4
6	g.139373355C>G	CA365876658	CITED2	c.590G>C (p.Gly197Ala) c.605G>C (p.Gly202Ala) c.477-58G>C (n.477-58G>C)
6	g.139373355C>T	CA365876659	CITED2	c.590G>A (p.Gly197Asp) c.605G>A (p.Gly202Asp) c.477-58G>A (n.477-58G>A)	gnomAD v4
6	g.139373356C>A	CA365876660	CITED2	c.589G>T (p.Gly197Cys) c.604G>T (p.Gly202Cys) c.477-59G>T (n.477-59G>T)
6	g.139373356C=	CA1667372338	CITED2	c.589G= (p.Gly197=) c.604G= (p.Gly202=) c.477-59G= (n.477-59G=)
6	g.139373356C>G	CA365876661	CITED2	c.589G>C (p.Gly197Arg) c.604G>C (p.Gly202Arg) c.477-59G>C (n.477-59G>C)	ClinVar gnomAD v4
6	g.139373356C>T	CA365876662	CITED2	c.589G>A (p.Gly197Ser) c.604G>A (p.Gly202Ser) c.477-59G>A (n.477-59G>A)	dbSNP
6	g.139373356_139373374delinsCGCTGCCGCCGCCGCTGTT	CA1667372339	CITED2	c.571_589delinsAACAGCGGCGGCGGCAGCG (p.Asn191=) c.586_604delinsAACAGCGGCGGCGGCAGCG (p.Asn196=) c.477-77_477-59delinsAACAGCGGCGGCGGCAGCG (n.477-77_477-59delinsAACAGCGGCGGCGGCAGCG)
6	g.139373357G>A	CA452441593	CITED2	c.588C>T (p.Ser196=) c.603C>T (p.Ser201=) c.477-60C>T (n.477-60C>T)	gnomAD v4
6	g.139373357G>C	CA365876664	CITED2	c.588C>G (p.Ser196Arg) c.603C>G (p.Ser201Arg) c.477-60C>G (n.477-60C>G)
6	g.139373357G>T	CA365876663	CITED2	c.588C>A (p.Ser196Arg) c.603C>A (p.Ser201Arg) c.477-60C>A (n.477-60C>A)
6	g.139373359_139373361dup	CA4025567	CITED2	c.586_588dup (p.Ser196_Gly197insSer) c.601_603dup (p.Ser201_Gly202insSer) c.477-62_477-60dup (n.477-62_477-60dup)	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.139373359_139373361del	CA2680562551	CITED2	c.586_588del (p.Ser196del) c.601_603del (p.Ser201del) c.477-62_477-60del (n.477-62_477-60del)	gnomAD v4
6	g.139373362_139373379del	CA1667372340	CITED2	c.571_588del (p.Asn191_Ser196del) c.586_603del (p.Asn196_Ser201del) c.477-77_477-60del (n.477-77_477-60del)	dbSNP gnomAD v4
6	g.139373358C>A	CA365876665	CITED2	c.587G>T (p.Ser196Ile) c.602G>T (p.Ser201Ile) c.477-61G>T (n.477-61G>T)
6	g.139373358C>G	CA365876666	CITED2	c.587G>C (p.Ser196Thr) c.602G>C (p.Ser201Thr) c.477-61G>C (n.477-61G>C)
6	g.139373358C>T	CA365876667	CITED2	c.587G>A (p.Ser196Asn) c.602G>A (p.Ser201Asn) c.477-61G>A (n.477-61G>A)
6	g.139373359T>A	CA365876668	CITED2	c.586A>T (p.Ser196Cys) c.601A>T (p.Ser201Cys) c.477-62A>T (n.477-62A>T)
6	g.139373359T>C	CA4025569	CITED2	c.586A>G (p.Ser196Gly) c.601A>G (p.Ser201Gly) c.477-62A>G (n.477-62A>G)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6	g.139373359T>G	CA365876669	CITED2	c.586A>C (p.Ser196Arg) c.601A>C (p.Ser201Arg) c.477-62A>C (n.477-62A>C)
6	g.139373359T=	CA1667372343	CITED2	c.586A= (p.Ser196=) c.601A= (p.Ser201=) c.477-62A= (n.477-62A=)
6	g.139373359_139373365delinsTGCCGCC	CA1667372341	CITED2	c.580_586delinsGGCGGCA (p.Gly194=) c.595_601delinsGGCGGCA (p.Gly199=) c.477-68_477-62delinsGGCGGCA (n.477-68_477-62delinsGGCGGCA)
6	g.139373359_139373386delinsTGCCGCCGCCGCTGTTGCTGCTGCCCGC	CA1667372342	CITED2	c.559_586delinsGCGGGCAGCAGCAACAGCGGCGGCGGCA (p.Ala187=) c.574_601delinsGCGGGCAGCAGCAACAGCGGCGGCGGCA (p.Ala192=) c.476+83_477-62delinsGCGGGCAGCAGCAACAGCGGCGGCGGCA (n.476+83_477-62delinsGCGGGCAGCAGCAACAGCGGCGGCGGCA)
6	g.139373360G>A	CA452441608	CITED2	c.585C>T (p.Gly195=) c.600C>T (p.Gly200=) c.477-63C>T (n.477-63C>T)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.139373360G>C	CA452441607	CITED2	c.585C>G (p.Gly195=) c.600C>G (p.Gly200=) c.477-63C>G (n.477-63C>G)
6	g.139373360G=	CA1667372344	CITED2	c.585C= (p.Gly195=) c.600C= (p.Gly200=) c.477-63C= (n.477-63C=)
6	g.139373360G>T	CA452441606	CITED2	c.585C>A (p.Gly195=) c.600C>A (p.Gly200=) c.477-63C>A (n.477-63C>A)
6	g.139373368_139373370dup	CA148813793	CITED2	c.583_585dup (p.Gly195_Ser196insGly) c.598_600dup (p.Gly200_Ser201insGly) c.477-65_477-63dup (n.477-65_477-63dup)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.139373365_139373370dup	CA4025570	CITED2	c.580_585dup (p.Gly195_Ser196insGlyGly) c.595_600dup (p.Gly200_Ser201insGlyGly) c.477-68_477-63dup (n.477-68_477-63dup)	dbSNP ExAC gnomAD v3 gnomAD v4
6	g.139373368_139373370del	CA570979104	CITED2	c.583_585del (p.Gly195del) c.598_600del (p.Gly200del) c.477-65_477-63del (n.477-65_477-63del)	gnomAD v2 gnomAD v4
6	g.139373365_139373370del	CA4025568	CITED2	c.580_585del (p.Gly194_Gly195del) c.595_600del (p.Gly199_Gly200del) c.477-68_477-63del (n.477-68_477-63del)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.139373369_139373395dup	CA1095070718	CITED2	c.559_585dup (p.Gly195_Ser196insAlaGlySerSerAsnSerGlyGlyGly) c.574_600dup (p.Gly200_Ser201insAlaGlySerSerAsnSerGlyGlyGly) c.476+83_477-63dup (n.476+83_477-63dup)	dbSNP gnomAD v3 gnomAD v4
6	g.139373369_139373395del	CA4025571	CITED2	c.559_585del (p.Ala187_Gly195del) c.574_600del (p.Ala192_Gly200del) c.476+83_477-63del (n.476+83_477-63del)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.139373361C>A	CA365876670	CITED2	c.584G>T (p.Gly195Val) c.599G>T (p.Gly200Val) c.477-64G>T (n.477-64G>T)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.139373361C=	CA1667372345	CITED2	c.584G= (p.Gly195=) c.599G= (p.Gly200=) c.477-64G= (n.477-64G=)
6	g.139373361C>G	CA4025572	CITED2	c.584G>C (p.Gly195Ala) c.599G>C (p.Gly200Ala) c.477-64G>C (n.477-64G>C)	dbSNP ExAC gnomAD v2
6	g.139373361C>T	CA365876671	CITED2	c.584G>A (p.Gly195Asp) c.599G>A (p.Gly200Asp) c.477-64G>A (n.477-64G>A)	gnomAD v4
6	g.139373361_139373385delinsCCGCCGCCGCTGTTGCTGCTGCCCG	CA1667372346	CITED2	c.560_584delinsCGGGCAGCAGCAACAGCGGCGGCGG (p.Ala187=) c.575_599delinsCGGGCAGCAGCAACAGCGGCGGCGG (p.Ala192=) c.476+84_477-64delinsCGGGCAGCAGCAACAGCGGCGGCGG (n.476+84_477-64delinsCGGGCAGCAGCAACAGCGGCGGCGG)
6	g.139373362C>A	CA365876672	CITED2	c.583G>T (p.Gly195Cys) c.598G>T (p.Gly200Cys) c.477-65G>T (n.477-65G>T)	gnomAD v4
6	g.139373362C=	CA1667372347	CITED2	c.583G= (p.Gly195=) c.598G= (p.Gly200=) c.477-65G= (n.477-65G=)
6	g.139373362C>G	CA365876673	CITED2	c.583G>C (p.Gly195Arg) c.598G>C (p.Gly200Arg) c.477-65G>C (n.477-65G>C)
6	g.139373362C>T	CA365876674	CITED2	c.583G>A (p.Gly195Ser) c.598G>A (p.Gly200Ser) c.477-65G>A (n.477-65G>A)	dbSNP gnomAD v2 gnomAD v4
6	g.139373362_139373373del	CA2680562552	CITED2	c.572_583del (p.Asn191_Gly195delinsSer) c.587_598del (p.Asn196_Gly200delinsSer) c.477-76_477-65del (n.477-76_477-65del)	gnomAD v4
6	g.139373371_139373394del	CA570979105	CITED2	c.560_583del (p.Ala187_Gly194del) c.575_598del (p.Ala192_Gly199del) c.476+84_477-65del (n.476+84_477-65del)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.139373363G>A	CA4025573	CITED2	c.582C>T (p.Gly194=) c.597C>T (p.Gly199=) c.477-66C>T (n.477-66C>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.139373363G>C	CA148813794	CITED2	c.582C>G (p.Gly194=) c.597C>G (p.Gly199=) c.477-66C>G (n.477-66C>G)	dbSNP gnomAD v3 gnomAD v4
6	g.139373363G=	CA1667372348	CITED2	c.582C= (p.Gly194=) c.597C= (p.Gly199=) c.477-66C= (n.477-66C=)
6	g.139373363G>T	CA452441610	CITED2	c.582C>A (p.Gly194=) c.597C>A (p.Gly199=) c.477-66C>A (n.477-66C>A)
6	g.139373366_139373383del	CA2680562553	CITED2	c.565_582del (p.Ser189_Gly194del) c.580_597del (p.Ser194_Gly199del) c.477-83_477-66del (n.477-83_477-66del)	gnomAD v4
6	g.139373364C>A	CA365876675	CITED2	c.581G>T (p.Gly194Val) c.596G>T (p.Gly199Val) c.477-67G>T (n.477-67G>T)
6	g.139373364C>G	CA365876676	CITED2	c.581G>C (p.Gly194Ala) c.596G>C (p.Gly199Ala) c.477-67G>C (n.477-67G>C)
6	g.139373364C>T	CA365876677	CITED2	c.581G>A (p.Gly194Asp) c.596G>A (p.Gly199Asp) c.477-67G>A (n.477-67G>A)	gnomAD v4
6	g.139373365C>A	CA365876678	CITED2	c.580G>T (p.Gly194Cys) c.595G>T (p.Gly199Cys) c.477-68G>T (n.477-68G>T)
6	g.139373365C=	CA1667372349	CITED2	c.580G= (p.Gly194=) c.595G= (p.Gly199=) c.477-68G= (n.477-68G=)
6	g.139373365C>G	CA365876679	CITED2	c.580G>C (p.Gly194Arg) c.595G>C (p.Gly199Arg) c.477-68G>C (n.477-68G>C)
6	g.139373365C>T	CA4025575	CITED2	c.580G>A (p.Gly194Ser) c.595G>A (p.Gly199Ser) c.477-68G>A (n.477-68G>A)	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.139373365_139373371delinsCGCCGCT	CA1667372350	CITED2	c.574_580delinsAGCGGCG (p.Ser192=) c.589_595delinsAGCGGCG (p.Ser197=) c.477-74_477-68delinsAGCGGCG (n.477-74_477-68delinsAGCGGCG)
6	g.139373366G>A	CA452441621	CITED2	c.579C>T (p.Gly193=) c.594C>T (p.Gly198=) c.477-69C>T (n.477-69C>T)	gnomAD v4
6	g.139373366G>C	CA452441623	CITED2	c.579C>G (p.Gly193=) c.594C>G (p.Gly198=) c.477-69C>G (n.477-69C>G)
6	g.139373366G=	CA1667372351	CITED2	c.579C= (p.Gly193=) c.594C= (p.Gly198=) c.477-69C= (n.477-69C=)
6	g.139373366G>T	CA452441620	CITED2	c.579C>A (p.Gly193=) c.594C>A (p.Gly198=) c.477-69C>A (n.477-69C>A)	dbSNP gnomAD v3 gnomAD v4
6	g.139373367_139373372dup	CA4025576	CITED2	c.574_579dup (p.Gly193_Gly194insSerGly) c.589_594dup (p.Gly198_Gly199insSerGly) c.477-74_477-69dup (n.477-74_477-69dup)	dbSNP ExAC
6	g.139373367_139373372del	CA4025574	CITED2	c.574_579del (p.Ser192_Gly193del) c.589_594del (p.Ser197_Gly198del) c.477-74_477-69del (n.477-74_477-69del)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.139373367C>A	CA365876680	CITED2	c.578G>T (p.Gly193Val) c.593G>T (p.Gly198Val) c.477-70G>T (n.477-70G>T)
6	g.139373367C>G	CA365876682	CITED2	c.578G>C (p.Gly193Ala) c.593G>C (p.Gly198Ala) c.477-70G>C (n.477-70G>C)
6	g.139373367C>T	CA365876681	CITED2	c.578G>A (p.Gly193Asp) c.593G>A (p.Gly198Asp) c.477-70G>A (n.477-70G>A)
6	g.139373368C>A	CA365876683	CITED2	c.577G>T (p.Gly193Cys) c.592G>T (p.Gly198Cys) c.477-71G>T (n.477-71G>T)
6	g.139373368C>G	CA365876685	CITED2	c.577G>C (p.Gly193Arg) c.592G>C (p.Gly198Arg) c.477-71G>C (n.477-71G>C)
6	g.139373368C>T	CA365876684	CITED2	c.577G>A (p.Gly193Ser) c.592G>A (p.Gly198Ser) c.477-71G>A (n.477-71G>A)
6	g.139373368_139373371delinsCGCT	CA1667372352	CITED2	c.574_577delinsAGCG (p.Ser192=) c.589_592delinsAGCG (p.Ser197=) c.477-74_477-71delinsAGCG (n.477-74_477-71delinsAGCG)
6	g.139373368_139373373del	CA2680562554	CITED2	c.572_577del (p.Asn191_Gly193delinsSer) c.587_592del (p.Asn196_Gly198delinsSer) c.477-76_477-71del (n.477-76_477-71del)	gnomAD v4
6	g.139373369G>A	CA452441628	CITED2	c.576C>T (p.Ser192=) c.591C>T (p.Ser197=) c.477-72C>T (n.477-72C>T)	gnomAD v4
6	g.139373369G>C	CA365876686	CITED2	c.576C>G (p.Ser192Arg) c.591C>G (p.Ser197Arg) c.477-72C>G (n.477-72C>G)
6	g.139373369G>T	CA365876687	CITED2	c.576C>A (p.Ser192Arg) c.591C>A (p.Ser197Arg) c.477-72C>A (n.477-72C>A)
6	g.139373370_139373372del	CA4025577	CITED2	c.574_576del (p.Ser192del) c.589_591del (p.Ser197del) c.477-74_477-72del (n.477-74_477-72del)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.139373371_139373382del	CA2713330482	CITED2	c.565_576del (p.Ser189_Ser192del) c.580_591del (p.Ser194_Ser197del) c.477-83_477-72del (n.477-83_477-72del)	dbSNP
6	g.139373370C>A	CA365876688	CITED2	c.575G>T (p.Ser192Ile) c.590G>T (p.Ser197Ile) c.477-73G>T (n.477-73G>T)
6	g.139373370C=	CA1667372354	CITED2	c.575G= (p.Ser192=) c.590G= (p.Ser197=) c.477-73G= (n.477-73G=)
6	g.139373370C>G	CA365876689	CITED2	c.575G>C (p.Ser192Thr) c.590G>C (p.Ser197Thr) c.477-73G>C (n.477-73G>C)
6	g.139373370C>T	CA365876690	CITED2	c.575G>A (p.Ser192Asn) c.590G>A (p.Ser197Asn) c.477-73G>A (n.477-73G>A)
6	g.139373370_139373385delinsCTGTTGCTGCTGCCCG	CA1667372353	CITED2	c.560_575delinsCGGGCAGCAGCAACAG (p.Ala187=) c.575_590delinsCGGGCAGCAGCAACAG (p.Ala192=) c.476+84_477-73delinsCGGGCAGCAGCAACAG (n.476+84_477-73delinsCGGGCAGCAGCAACAG)
6	g.139373370_139373371insCGA	CA1667372356	CITED2	c.574_575insTCG (p.Ser192delinsIleGly) c.589_590insTCG (p.Ser197delinsIleGly) c.477-74_477-73insTCG (n.477-74_477-73insTCG)	dbSNP gnomAD v4
6	g.139373371T>A	CA365876691	CITED2	c.574A>T (p.Ser192Cys) c.589A>T (p.Ser197Cys) c.477-74A>T (n.477-74A>T)
6	g.139373371T>C	CA4025578	CITED2	c.574A>G (p.Ser192Gly) c.589A>G (p.Ser197Gly) c.477-74A>G (n.477-74A>G)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.139373371T>G	CA365876692	CITED2	c.574A>C (p.Ser192Arg) c.589A>C (p.Ser197Arg) c.477-74A>C (n.477-74A>C)
6	g.139373371T=	CA1667372355	CITED2	c.574A= (p.Ser192=) c.589A= (p.Ser197=) c.477-74A= (n.477-74A=)
6	g.139373373_139373375del	CA2680562555	CITED2	c.572_574del (p.Asn191del) c.587_589del (p.Asn196del) c.477-76_477-74del (n.477-76_477-74del)	gnomAD v4
6	g.139373371_139373385del	CA570979106	CITED2	c.560_574del (p.Ala187_Ser192delinsGly) c.575_589del (p.Ala192_Ser197delinsGly) c.476+84_477-74del (n.476+84_477-74del)	dbSNP gnomAD v2 gnomAD v4
6	g.139373372G>A	CA4025579	CITED2	c.573C>T (p.Asn191=) c.588C>T (p.Asn196=) c.477-75C>T (n.477-75C>T)	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.139373372G>C	CA365876693	CITED2	c.573C>G (p.Asn191Lys) c.588C>G (p.Asn196Lys) c.477-75C>G (n.477-75C>G)
6	g.139373372G=	CA1667372357	CITED2	c.573C= (p.Asn191=) c.588C= (p.Asn196=) c.477-75C= (n.477-75C=)
6	g.139373372G>T	CA365876694	CITED2	c.573C>A (p.Asn191Lys) c.588C>A (p.Asn196Lys) c.477-75C>A (n.477-75C>A)	gnomAD v4
6	g.139373372_139373395dup	CA2773276762	CITED2	c.550_573dup (p.Asn191_Ser192insGlyGlyGlyAlaGlySerSerAsn) c.565_588dup (p.Asn196_Ser197insGlyGlyGlyAlaGlySerSerAsn) c.476+74_477-75dup (n.476+74_477-75dup)
6	g.139373373T>A	CA365876697	CITED2	c.572A>T (p.Asn191Ile) c.587A>T (p.Asn196Ile) c.477-76A>T (n.477-76A>T)
6	g.139373373T>C	CA365876695	CITED2	c.572A>G (p.Asn191Ser) c.587A>G (p.Asn196Ser) c.477-76A>G (n.477-76A>G)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.139373373T>G	CA365876696	CITED2	c.572A>C (p.Asn191Thr) c.587A>C (p.Asn196Thr) c.477-76A>C (n.477-76A>C)
6	g.139373373T=	CA1667372358	CITED2	c.572A= (p.Asn191=) c.587A= (p.Asn196=) c.477-76A= (n.477-76A=)
6	g.139373374T>A	CA365876698	CITED2	c.571A>T (p.Asn191Tyr) c.586A>T (p.Asn196Tyr) c.477-77A>T (n.477-77A>T)
6	g.139373374T>C	CA365876699	CITED2	c.571A>G (p.Asn191Asp) c.586A>G (p.Asn196Asp) c.477-77A>G (n.477-77A>G)	dbSNP gnomAD v3 gnomAD v4
6	g.139373374T>G	CA365876700	CITED2	c.571A>C (p.Asn191His) c.586A>C (p.Asn196His) c.477-77A>C (n.477-77A>C)	dbSNP gnomAD v4
6	g.139373374T=	CA1667372360	CITED2	c.571A= (p.Asn191=) c.586A= (p.Asn196=) c.477-77A= (n.477-77A=)
6	g.139373377_139373382del	CA2578756311	CITED2	c.566_571del (p.Ser189_Ser190del) c.581_586del (p.Ser194_Ser195del) c.477-82_477-77del (n.477-82_477-77del)	gnomAD v4
6	g.139373374_139373398delinsTGCTGCTGCCCGCGCCGCCGCCCGA	CA1667372359	CITED2	c.547_571delinsTCGGGCGGCGGCGCGGGCAGCAGCA (p.Ser183=) c.562_586delinsTCGGGCGGCGGCGCGGGCAGCAGCA (p.Ser188=) c.476+71_477-77delinsTCGGGCGGCGGCGCGGGCAGCAGCA (n.476+71_477-77delinsTCGGGCGGCGGCGCGGGCAGCAGCA)
6	g.139373380_139373430del	CA4025580	CITED2	c.521_571del (p.Ser174_Ser190del) c.536_586del (p.Ser179_Ser195del) c.476+45_477-77del (n.476+45_477-77del)	ExAC
6	g.139373375G>A	CA452441632	CITED2	c.570C>T (p.Ser190=) c.585C>T (p.Ser195=) c.477-78C>T (n.477-78C>T)
6	g.139373375G>C	CA365876701	CITED2	c.570C>G (p.Ser190Arg) c.585C>G (p.Ser195Arg) c.477-78C>G (n.477-78C>G)
6	g.139373375G>T	CA365876702	CITED2	c.570C>A (p.Ser190Arg) c.585C>A (p.Ser195Arg) c.477-78C>A (n.477-78C>A)	gnomAD v4
6	g.139373384_139373407dup	CA819732326	CITED2	c.547_570dup (p.Ser190_Asn191insSerGlyGlyGlyAlaGlySerSer) c.562_585dup (p.Ser195_Asn196insSerGlyGlyGlyAlaGlySerSer) c.476+71_477-78dup (n.476+71_477-78dup)	dbSNP gnomAD v3 gnomAD v4
6	g.139373384_139373407del	CA4025581	CITED2	c.547_570del (p.Ser183_Ser190del) c.562_585del (p.Ser188_Ser195del) c.476+71_477-78del (n.476+71_477-78del)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.139373376C>A	CA365876703	CITED2	c.569G>T (p.Ser190Ile) c.584G>T (p.Ser195Ile) c.477-79G>T (n.477-79G>T)
6	g.139373376C>G	CA365876704	CITED2	c.569G>C (p.Ser190Thr) c.584G>C (p.Ser195Thr) c.477-79G>C (n.477-79G>C)
6	g.139373376C>T	CA365876705	CITED2	c.569G>A (p.Ser190Asn) c.584G>A (p.Ser195Asn) c.477-79G>A (n.477-79G>A)	gnomAD v4
6	g.139373377T>A	CA365876708	CITED2	c.568A>T (p.Ser190Cys) c.583A>T (p.Ser195Cys) c.477-80A>T (n.477-80A>T)
6	g.139373377T>C	CA365876707	CITED2	c.568A>G (p.Ser190Gly) c.583A>G (p.Ser195Gly) c.477-80A>G (n.477-80A>G)	dbSNP gnomAD v3 gnomAD v4
6	g.139373377T>G	CA365876706	CITED2	c.568A>C (p.Ser190Arg) c.583A>C (p.Ser195Arg) c.477-80A>C (n.477-80A>C)
6	g.139373377T=	CA1667372361	CITED2	c.568A= (p.Ser190=) c.583A= (p.Ser195=) c.477-80A= (n.477-80A=)
6	g.139373378G>A	CA452441633	CITED2	c.567C>T (p.Ser189=) c.582C>T (p.Ser194=) c.477-81C>T (n.477-81C>T)	gnomAD v4
6	g.139373378G>C	CA365876709	CITED2	c.567C>G (p.Ser189Arg) c.582C>G (p.Ser194Arg) c.477-81C>G (n.477-81C>G)
6	g.139373378G>T	CA365876710	CITED2	c.567C>A (p.Ser189Arg) c.582C>A (p.Ser194Arg) c.477-81C>A (n.477-81C>A)
6	g.139373379C>A	CA365876711	CITED2	c.566G>T (p.Ser189Ile) c.581G>T (p.Ser194Ile) c.477-82G>T (n.477-82G>T)
6	g.139373379C>G	CA365876712	CITED2	c.566G>C (p.Ser189Thr) c.581G>C (p.Ser194Thr) c.477-82G>C (n.477-82G>C)
6	g.139373379C>T	CA365876713	CITED2	c.566G>A (p.Ser189Asn) c.581G>A (p.Ser194Asn) c.477-82G>A (n.477-82G>A)	gnomAD v4
6	g.139373380T>A	CA148813795	CITED2	c.565A>T (p.Ser189Cys) c.580A>T (p.Ser194Cys) c.477-83A>T (n.477-83A>T)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.139373380T>C	CA365876714	CITED2	c.565A>G (p.Ser189Gly) c.580A>G (p.Ser194Gly) c.477-83A>G (n.477-83A>G)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.139373380T>G	CA365876715	CITED2	c.565A>C (p.Ser189Arg) c.580A>C (p.Ser194Arg) c.477-83A>C (n.477-83A>C)	dbSNP gnomAD v2 gnomAD v4
6	g.139373380T=	CA1667372362	CITED2	c.565A= (p.Ser189=) c.580A= (p.Ser194=) c.477-83A= (n.477-83A=)
6	g.139373381G>A	CA4025582	CITED2	c.564C>T (p.Gly188=) c.579C>T (p.Gly193=) c.477-84C>T (n.477-84C>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.139373381G>C	CA452441635	CITED2	c.564C>G (p.Gly188=) c.579C>G (p.Gly193=) c.477-84C>G (n.477-84C>G)
6	g.139373381G=	CA1667372363	CITED2	c.564C= (p.Gly188=) c.579C= (p.Gly193=) c.477-84C= (n.477-84C=)
6	g.139373381G>T	CA452441634	CITED2	c.564C>A (p.Gly188=) c.579C>A (p.Gly193=) c.477-84C>A (n.477-84C>A)	gnomAD v4
6	g.139373386_139373436del	CA2680562556	CITED2	c.514_564del (p.Gly172_Gly188del) c.529_579del (p.Gly177_Gly193del) c.476+38_477-84del (n.476+38_477-84del)	gnomAD v4
6	g.139373382C>A	CA365876716	CITED2	c.563G>T (p.Gly188Val) c.578G>T (p.Gly193Val) c.477-85G>T (n.477-85G>T)
6	g.139373382C>G	CA365876717	CITED2	c.563G>C (p.Gly188Ala) c.578G>C (p.Gly193Ala) c.477-85G>C (n.477-85G>C)
6	g.139373382C>T	CA365876718	CITED2	c.563G>A (p.Gly188Asp) c.578G>A (p.Gly193Asp) c.477-85G>A (n.477-85G>A)	gnomAD v4
6	g.139373383C>A	CA365876720	CITED2	c.562G>T (p.Gly188Cys) c.577G>T (p.Gly193Cys) c.477-86G>T (n.477-86G>T)
6	g.139373383C=	CA1667372364	CITED2	c.562G= (p.Gly188=) c.577G= (p.Gly193=) c.477-86G= (n.477-86G=)
6	g.139373383C>G	CA365876719	CITED2	c.562G>C (p.Gly188Arg) c.577G>C (p.Gly193Arg) c.477-86G>C (n.477-86G>C)
6	g.139373383C>T	CA148813796	CITED2	c.562G>A (p.Gly188Ser) c.577G>A (p.Gly193Ser) c.477-86G>A (n.477-86G>A)	ClinVar dbSNP gnomAD v2 gnomAD v4
6	g.139373384C>A	CA452441637	CITED2	c.561G>T (p.Ala187=) c.576G>T (p.Ala192=) c.476+85G>T (n.476+85G>T)	gnomAD v3 gnomAD v4
6	g.139373384C>G	CA452441638	CITED2	c.561G>C (p.Ala187=) c.576G>C (p.Ala192=) c.476+85G>C (n.476+85G>C)
6	g.139373384C>T	CA452441639	CITED2	c.561G>A (p.Ala187=) c.576G>A (p.Ala192=) c.476+85G>A (n.476+85G>A)
6	g.139373384_139373408delinsCGCGCCGCCGCCCGAGCTGCTGCCA	CA1667372365	CITED2	c.537_561delinsTGGCAGCAGCTCGGGCGGCGGCGCG (p.Ser179=) c.552_576delinsTGGCAGCAGCTCGGGCGGCGGCGCG (p.Ser184=) c.476+61_476+85delinsTGGCAGCAGCTCGGGCGGCGGCGCG (n.476+61_476+85delinsTGGCAGCAGCTCGGGCGGCGGCGCG)
6	g.139373385G>A	CA365876721	CITED2	c.560C>T (p.Ala187Val) c.575C>T (p.Ala192Val) c.476+84C>T (n.476+84C>T)	dbSNP gnomAD v3 gnomAD v4
6	g.139373385G>C	CA365876722	CITED2	c.560C>G (p.Ala187Gly) c.575C>G (p.Ala192Gly) c.476+84C>G (n.476+84C>G)
6	g.139373385G=	CA1667372366	CITED2	c.560C= (p.Ala187=) c.575C= (p.Ala192=) c.476+84C= (n.476+84C=)
6	g.139373385G>T	CA365876723	CITED2	c.560C>A (p.Ala187Glu) c.575C>A (p.Ala192Glu) c.476+84C>A (n.476+84C>A)
6	g.139373386_139373409del	CA1095070769	CITED2	c.537_560del (p.Gly180_Ala187del) c.552_575del (p.Gly185_Ala192del) c.476+61_476+84del (n.476+61_476+84del)	dbSNP gnomAD v3 gnomAD v4
6	g.139373386C>A	CA365876724	CITED2	c.559G>T (p.Ala187Ser) c.574G>T (p.Ala192Ser) c.476+83G>T (n.476+83G>T)	dbSNP gnomAD v3 gnomAD v4
6	g.139373386C=	CA1667372367	CITED2	c.559G= (p.Ala187=) c.574G= (p.Ala192=) c.476+83G= (n.476+83G=)
6	g.139373386C>G	CA365876725	CITED2	c.559G>C (p.Ala187Pro) c.574G>C (p.Ala192Pro) c.476+83G>C (n.476+83G>C)
6	g.139373386C>T	CA365876726	CITED2	c.559G>A (p.Ala187Thr) c.574G>A (p.Ala192Thr) c.476+83G>A (n.476+83G>A)	gnomAD v3 gnomAD v4
6	g.139373387G>A	CA452441642	CITED2	c.558C>T (p.Gly186=) c.573C>T (p.Gly191=) c.476+82C>T (n.476+82C>T)	gnomAD v4
6	g.139373387G>C	CA452441643	CITED2	c.558C>G (p.Gly186=) c.573C>G (p.Gly191=) c.476+82C>G (n.476+82C>G)
6	g.139373387G>T	CA452441644	CITED2	c.558C>A (p.Gly186=) c.573C>A (p.Gly191=) c.476+82C>A (n.476+82C>A)
6	g.139373394_139373417del	CA2680562557	CITED2	c.535_558del (p.Ser179_Gly186del) c.550_573del (p.Ser184_Gly191del) c.476+59_476+82del (n.476+59_476+82del)	gnomAD v4
6	g.139373388C>A	CA365876727	CITED2	c.557G>T (p.Gly186Val) c.572G>T (p.Gly191Val) c.476+81G>T (n.476+81G>T)
6	g.139373388C=	CA1667372368	CITED2	c.557G= (p.Gly186=) c.572G= (p.Gly191=) c.476+81G= (n.476+81G=)
6	g.139373388C>G	CA365876728	CITED2	c.557G>C (p.Gly186Ala) c.572G>C (p.Gly191Ala) c.476+81G>C (n.476+81G>C)
6	g.139373388C>T	CA4025583	CITED2	c.557G>A (p.Gly186Asp) c.572G>A (p.Gly191Asp) c.476+81G>A (n.476+81G>A)	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.139373389C>A	CA365876729	CITED2	c.556G>T (p.Gly186Cys) c.571G>T (p.Gly191Cys) c.476+80G>T (n.476+80G>T)
6	g.139373389C=	CA1667372369	CITED2	c.556G= (p.Gly186=) c.571G= (p.Gly191=) c.476+80G= (n.476+80G=)
6	g.139373389C>G	CA365876730	CITED2	c.556G>C (p.Gly186Arg) c.571G>C (p.Gly191Arg) c.476+80G>C (n.476+80G>C)
6	g.139373389C>T	CA365876731	CITED2	c.556G>A (p.Gly186Ser) c.571G>A (p.Gly191Ser) c.476+80G>A (n.476+80G>A)	dbSNP gnomAD v2 gnomAD v4
6	g.139373390G>A	CA452441683	CITED2	c.555C>T (p.Gly185=) c.570C>T (p.Gly190=) c.476+79C>T (n.476+79C>T)	dbSNP gnomAD v2 gnomAD v4
6	g.139373390G>C	CA452441685	CITED2	c.555C>G (p.Gly185=) c.570C>G (p.Gly190=) c.476+79C>G (n.476+79C>G)
6	g.139373390G=	CA1667372370	CITED2	c.555C= (p.Gly185=) c.570C= (p.Gly190=) c.476+79C= (n.476+79C=)
6	g.139373390G>T	CA4025584	CITED2	c.555C>A (p.Gly185=) c.570C>A (p.Gly190=) c.476+79C>A (n.476+79C>A)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.139373392_139373403del	CA2578756312	CITED2	c.544_555del (p.Ser182_Gly185del) c.559_570del (p.Ser187_Gly190del) c.476+68_476+79del (n.476+68_476+79del)
6	g.139373401_139373439dup	CA2695198363	CITED2	c.517_555dup (p.Gly185_Gly186insSerSerThrProGlyGlySerGlySerSerSerGlyGly) c.532_570dup (p.Gly190_Gly191insSerSerThrProGlyGlySerGlySerSerSerGlyGly) c.476+41_476+79dup (n.476+41_476+79dup)	ClinVar
6	g.139373391C>A	CA365876734	CITED2	c.554G>T (p.Gly185Val) c.569G>T (p.Gly190Val) c.476+78G>T (n.476+78G>T)
6	g.139373391C>G	CA365876732	CITED2	c.554G>C (p.Gly185Ala) c.569G>C (p.Gly190Ala) c.476+78G>C (n.476+78G>C)
6	g.139373391C>T	CA365876733	CITED2	c.554G>A (p.Gly185Asp) c.569G>A (p.Gly190Asp) c.476+78G>A (n.476+78G>A)
6	g.139373392C>A	CA365876735	CITED2	c.553G>T (p.Gly185Cys) c.568G>T (p.Gly190Cys) c.476+77G>T (n.476+77G>T)	gnomAD v4
6	g.139373392C=	CA1667372371	CITED2	c.553G= (p.Gly185=) c.568G= (p.Gly190=) c.476+77G= (n.476+77G=)
6	g.139373392C>G	CA365876736	CITED2	c.553G>C (p.Gly185Arg) c.568G>C (p.Gly190Arg) c.476+77G>C (n.476+77G>C)	dbSNP gnomAD v2 gnomAD v4
6	g.139373392C>T	CA4025585	CITED2	c.553G>A (p.Gly185Ser) c.568G>A (p.Gly190Ser) c.476+77G>A (n.476+77G>A)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.139373393G>A	CA452441686	CITED2	c.552C>T (p.Gly184=) c.567C>T (p.Gly189=) c.476+76C>T (n.476+76C>T)	gnomAD v4
6	g.139373393G>C	CA452441687	CITED2	c.552C>G (p.Gly184=) c.567C>G (p.Gly189=) c.476+76C>G (n.476+76C>G)
6	g.139373393G>T	CA452441688	CITED2	c.552C>A (p.Gly184=) c.567C>A (p.Gly189=) c.476+76C>A (n.476+76C>A)	gnomAD v4
6	g.139373394C>A	CA365876737	CITED2	c.551G>T (p.Gly184Val) c.566G>T (p.Gly189Val) c.476+75G>T (n.476+75G>T)
6	g.139373394C=	CA1667372372	CITED2	c.551G= (p.Gly184=) c.566G= (p.Gly189=) c.476+75G= (n.476+75G=)
6	g.139373394C>G	CA365876738	CITED2	c.551G>C (p.Gly184Ala) c.566G>C (p.Gly189Ala) c.476+75G>C (n.476+75G>C)	dbSNP gnomAD v3 gnomAD v4
6	g.139373394C>T	CA365876739	CITED2	c.551G>A (p.Gly184Asp) c.566G>A (p.Gly189Asp) c.476+75G>A (n.476+75G>A)	dbSNP
6	g.139373395C>A	CA365876740	CITED2	c.550G>T (p.Gly184Cys) c.565G>T (p.Gly189Cys) c.476+74G>T (n.476+74G>T)	gnomAD v4
6	g.139373395C=	CA1667372373	CITED2	c.550G= (p.Gly184=) c.565G= (p.Gly189=) c.476+74G= (n.476+74G=)
6	g.139373395C>G	CA365876742	CITED2	c.550G>C (p.Gly184Arg) c.565G>C (p.Gly189Arg) c.476+74G>C (n.476+74G>C)	dbSNP gnomAD v3 gnomAD v4
6	g.139373395C>T	CA365876741	CITED2	c.550G>A (p.Gly184Ser) c.565G>A (p.Gly189Ser) c.476+74G>A (n.476+74G>A)
6	g.139373395_139373418del	CA2680562558	CITED2	c.527_550del (p.Pro176_Gly184delinsArg) c.542_565del (p.Pro181_Gly189delinsArg) c.476+51_476+74del (n.476+51_476+74del)	gnomAD v4
6	g.139373396C>A	CA4025586	CITED2	c.549G>T (p.Ser183=) c.564G>T (p.Ser188=) c.476+73G>T (n.476+73G>T)	dbSNP ExAC
6	g.139373396C=	CA1667372374	CITED2	c.549G= (p.Ser183=) c.564G= (p.Ser188=) c.476+73G= (n.476+73G=)
6	g.139373396C>G	CA452441693	CITED2	c.549G>C (p.Ser183=) c.564G>C (p.Ser188=) c.476+73G>C (n.476+73G>C)	dbSNP gnomAD v3 gnomAD v4
6	g.139373396C>T	CA452441692	CITED2	c.549G>A (p.Ser183=) c.564G>A (p.Ser188=) c.476+73G>A (n.476+73G>A)
6	g.139373397G>A	CA365876743	CITED2	c.548C>T (p.Ser183Leu) c.563C>T (p.Ser188Leu) c.476+72C>T (n.476+72C>T)	dbSNP gnomAD v3 gnomAD v4
6	g.139373397G>C	CA365876744	CITED2	c.548C>G (p.Ser183Trp) c.563C>G (p.Ser188Trp) c.476+72C>G (n.476+72C>G)	dbSNP
6	g.139373397G=	CA1667372375	CITED2	c.548C= (p.Ser183=) c.563C= (p.Ser188=) c.476+72C= (n.476+72C=)
6	g.139373397G>T	CA365876745	CITED2	c.548C>A (p.Ser183Ter) c.563C>A (p.Ser188Ter) c.476+72C>A (n.476+72C>A)
6	g.139373398A=	CA1667372378	CITED2	c.547T= (p.Ser183=) c.562T= (p.Ser188=) c.476+71T= (n.476+71T=)
6	g.139373398A>C	CA365876746	CITED2	c.547T>G (p.Ser183Ala) c.562T>G (p.Ser188Ala) c.476+71T>G (n.476+71T>G)
6	g.139373398A>G	CA365876748	CITED2	c.547T>C (p.Ser183Pro) c.562T>C (p.Ser188Pro) c.476+71T>C (n.476+71T>C)
6	g.139373398A>T	CA365876747	CITED2	c.547T>A (p.Ser183Thr) c.562T>A (p.Ser188Thr) c.476+71T>A (n.476+71T>A)	dbSNP gnomAD v3 gnomAD v4
6	g.139373398dup	CA2773276763	CITED2	c.547dup (p.Ser183PhefsTer?) c.562dup (p.Ser188PhefsTer?) c.476+71dup (n.476+71dup)
6	g.139373398_139373422delinsAGCTGCTGCCAGAGCCGCCGGGGGT	CA1667372376	CITED2	c.523_547delinsACCCCCGGCGGCTCTGGCAGCAGCT (p.Thr175=) c.538_562delinsACCCCCGGCGGCTCTGGCAGCAGCT (p.Thr180=) c.476+47_476+71delinsACCCCCGGCGGCTCTGGCAGCAGCT (n.476+47_476+71delinsACCCCCGGCGGCTCTGGCAGCAGCT)
6	g.139373398_139373425delinsAGCTGCTGCCAGAGCCGCCGGGGGTGCT	CA1667372377	CITED2	c.520_547delinsAGCACCCCCGGCGGCTCTGGCAGCAGCT (p.Ser174=) c.535_562delinsAGCACCCCCGGCGGCTCTGGCAGCAGCT (p.Ser179=) c.476+44_476+71delinsAGCACCCCCGGCGGCTCTGGCAGCAGCT (n.476+44_476+71delinsAGCACCCCCGGCGGCTCTGGCAGCAGCT)
6	g.139373399G>A	CA452441697	CITED2	c.546C>T (p.Ser182=) c.561C>T (p.Ser187=) c.476+70C>T (n.476+70C>T)	dbSNP gnomAD v2 gnomAD v4
6	g.139373399G>C	CA365876749	CITED2	c.546C>G (p.Ser182Arg) c.561C>G (p.Ser187Arg) c.476+70C>G (n.476+70C>G)
6	g.139373399G=	CA1667372379	CITED2	c.546C= (p.Ser182=) c.561C= (p.Ser187=) c.476+70C= (n.476+70C=)
6	g.139373399G>T	CA365876750	CITED2	c.546C>A (p.Ser182Arg) c.561C>A (p.Ser187Arg) c.476+70C>A (n.476+70C>A)
6	g.139373404_139373406dup	CA2680562559	CITED2	c.544_546dup (p.Ser182_Ser183insSer) c.559_561dup (p.Ser187_Ser188insSer) c.476+68_476+70dup (n.476+68_476+70dup)	gnomAD v4
6	g.139373404_139373430del	CA819732382	CITED2	c.520_546del (p.Ser174_Ser182del) c.535_561del (p.Ser179_Ser187del) c.476+44_476+70del (n.476+44_476+70del)	dbSNP gnomAD v3 gnomAD v4
6	g.139373408_139373431dup	CA4025587	CITED2	c.523_546dup (p.Ser182_Ser183insThrProGlyGlySerGlySerSer) c.538_561dup (p.Ser187_Ser188insThrProGlyGlySerGlySerSer) c.476+47_476+70dup (n.476+47_476+70dup)	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.139373408_139373431del	CA819732379	CITED2	c.523_546del (p.Thr175_Ser182del) c.538_561del (p.Thr180_Ser187del) c.476+47_476+70del (n.476+47_476+70del)	dbSNP gnomAD v4
6	g.139373400C>A	CA365876751	CITED2	c.545G>T (p.Ser182Ile) c.560G>T (p.Ser187Ile) c.476+69G>T (n.476+69G>T)
6	g.139373400C=	CA1667372380	CITED2	c.545G= (p.Ser182=) c.560G= (p.Ser187=) c.476+69G= (n.476+69G=)
6	g.139373400C>G	CA365876752	CITED2	c.545G>C (p.Ser182Thr) c.560G>C (p.Ser187Thr) c.476+69G>C (n.476+69G>C)	COSMIC
6	g.139373400C>T	CA365876753	CITED2	c.545G>A (p.Ser182Asn) c.560G>A (p.Ser187Asn) c.476+69G>A (n.476+69G>A)	dbSNP gnomAD v2
6	g.139373400_139373403del	CA2773276764	CITED2	c.542_545del (p.Ser181ThrfsTer?) c.557_560del (p.Ser186ThrfsTer?) c.476+66_476+69del (n.476+66_476+69del)
6	g.139373401T>A	CA365876754	CITED2	c.544A>T (p.Ser182Cys) c.559A>T (p.Ser187Cys) c.476+68A>T (n.476+68A>T)
6	g.139373401T>C	CA365876755	CITED2	c.544A>G (p.Ser182Gly) c.559A>G (p.Ser187Gly) c.476+68A>G (n.476+68A>G)
6	g.139373401T>G	CA365876756	CITED2	c.544A>C (p.Ser182Arg) c.559A>C (p.Ser187Arg) c.476+68A>C (n.476+68A>C)
6	g.139373402G>A	CA452441698	CITED2	c.543C>T (p.Ser181=) c.558C>T (p.Ser186=) c.476+67C>T (n.476+67C>T)	dbSNP gnomAD v2 gnomAD v4
6	g.139373402G>C	CA365876757	CITED2	c.543C>G (p.Ser181Arg) c.558C>G (p.Ser186Arg) c.476+67C>G (n.476+67C>G)	dbSNP gnomAD v4
6	g.139373402G=	CA1667372381	CITED2	c.543C= (p.Ser181=) c.558C= (p.Ser186=) c.476+67C= (n.476+67C=)
6	g.139373402G>T	CA365876758	CITED2	c.543C>A (p.Ser181Arg) c.558C>A (p.Ser186Arg) c.476+67C>A (n.476+67C>A)
6	g.139373404_139373415dup	CA2680562560	CITED2	c.532_543dup (p.Ser181_Ser182insGlySerGlySer) c.547_558dup (p.Ser186_Ser187insGlySerGlySer) c.476+56_476+67dup (n.476+56_476+67dup)	gnomAD v4
6	g.139373404_139373415del	CA2680562561	CITED2	c.532_543del (p.Gly178_Ser181del) c.547_558del (p.Gly183_Ser186del) c.476+56_476+67del (n.476+56_476+67del)	gnomAD v4
6	g.139373403C>A	CA365876759	CITED2	c.542G>T (p.Ser181Ile) c.557G>T (p.Ser186Ile) c.476+66G>T (n.476+66G>T)	gnomAD v4
6	g.139373403C=	CA1667372382	CITED2	c.542G= (p.Ser181=) c.557G= (p.Ser186=) c.476+66G= (n.476+66G=)
6	g.139373403C>G	CA4025588	CITED2	c.542G>C (p.Ser181Thr) c.557G>C (p.Ser186Thr) c.476+66G>C (n.476+66G>C)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.139373403C>T	CA365876760	CITED2	c.542G>A (p.Ser181Asn) c.557G>A (p.Ser186Asn) c.476+66G>A (n.476+66G>A)
6	g.139373404T>A	CA365876761	CITED2	c.541A>T (p.Ser181Cys) c.556A>T (p.Ser186Cys) c.476+65A>T (n.476+65A>T)	gnomAD v4
6	g.139373404T>C	CA148813797	CITED2	c.541A>G (p.Ser181Gly) c.556A>G (p.Ser186Gly) c.476+65A>G (n.476+65A>G)	dbSNP gnomAD v4
6	g.139373404T>G	CA365876762	CITED2	c.541A>C (p.Ser181Arg) c.556A>C (p.Ser186Arg) c.476+65A>C (n.476+65A>C)
6	g.139373404T=	CA1667372383	CITED2	c.541A= (p.Ser181=) c.556A= (p.Ser186=) c.476+65A= (n.476+65A=)
6	g.139373405G>A	CA452441702	CITED2	c.540C>T (p.Gly180=) c.555C>T (p.Gly185=) c.476+64C>T (n.476+64C>T)	dbSNP gnomAD v2 gnomAD v4
6	g.139373405G>C	CA452441703	CITED2	c.540C>G (p.Gly180=) c.555C>G (p.Gly185=) c.476+64C>G (n.476+64C>G)
6	g.139373405G=	CA1667372384	CITED2	c.540C= (p.Gly180=) c.555C= (p.Gly185=) c.476+64C= (n.476+64C=)
6	g.139373405G>T	CA452441704	CITED2	c.540C>A (p.Gly180=) c.555C>A (p.Gly185=) c.476+64C>A (n.476+64C>A)
6	g.139373405_139373407dup	CA1095070796	CITED2	c.538_540dup (p.Gly180_Ser181insGly) c.553_555dup (p.Gly185_Ser186insGly) c.476+62_476+64dup (n.476+62_476+64dup)	gnomAD v3 gnomAD v4
6	g.139373408_139373434dup	CA4025589	CITED2	c.514_540dup (p.Gly180_Ser181insGlySerSerThrProGlyGlySerGly) c.529_555dup (p.Gly185_Ser186insGlySerSerThrProGlyGlySerGly) c.476+38_476+64dup (n.476+38_476+64dup)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.139373406C>A	CA365876763	CITED2	c.539G>T (p.Gly180Val) c.554G>T (p.Gly185Val) c.476+63G>T (n.476+63G>T)	gnomAD v4
6	g.139373406C=	CA1667372385	CITED2	c.539G= (p.Gly180=) c.554G= (p.Gly185=) c.476+63G= (n.476+63G=)
6	g.139373406C>G	CA365876764	CITED2	c.539G>C (p.Gly180Ala) c.554G>C (p.Gly185Ala) c.476+63G>C (n.476+63G>C)
6	g.139373406C>T	CA365876765	CITED2	c.539G>A (p.Gly180Asp) c.554G>A (p.Gly185Asp) c.476+63G>A (n.476+63G>A)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.139373407C>A	CA365876766	CITED2	c.538G>T (p.Gly180Cys) c.553G>T (p.Gly185Cys) c.476+62G>T (n.476+62G>T)
6	g.139373407C=	CA1667372386	CITED2	c.538G= (p.Gly180=) c.553G= (p.Gly185=) c.476+62G= (n.476+62G=)
6	g.139373407C>G	CA365876767	CITED2	c.538G>C (p.Gly180Arg) c.553G>C (p.Gly185Arg) c.476+62G>C (n.476+62G>C)
6	g.139373407C>T	CA365876768	CITED2	c.538G>A (p.Gly180Ser) c.553G>A (p.Gly185Ser) c.476+62G>A (n.476+62G>A)	dbSNP gnomAD v4
6	g.139373407_139373408insCGC	CA2773276765	CITED2	c.538_539insCGG (p.Ser179_Gly180insAla) c.553_554insCGG (p.Ser184_Gly185insAla) c.476+62_476+63insCGG (n.476+62_476+63insCGG)
6	g.139373408A=	CA1667372388	CITED2	c.537T= (p.Ser179=) c.552T= (p.Ser184=) c.476+61T= (n.476+61T=)
6	g.139373408A>C	CA148813798	CITED2	c.537T>G (p.Ser179=) c.552T>G (p.Ser184=) c.476+61T>G (n.476+61T>G)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.139373408A>G	CA452441706	CITED2	c.537T>C (p.Ser179=) c.552T>C (p.Ser184=) c.476+61T>C (n.476+61T>C)
6	g.139373408A>T	CA452441707	CITED2	c.537T>A (p.Ser179=) c.552T>A (p.Ser184=) c.476+61T>A (n.476+61T>A)
6	g.139373408_139373435delinsAGAGCCGCCGGGGGTGCTGCTGCCGCCC	CA1667372387	CITED2	c.510_537delinsGGGCGGCAGCAGCACCCCCGGCGGCTCT (p.Ser170=) c.525_552delinsGGGCGGCAGCAGCACCCCCGGCGGCTCT (p.Ser175=) c.476+34_476+61delinsGGGCGGCAGCAGCACCCCCGGCGGCTCT (n.476+34_476+61delinsGGGCGGCAGCAGCACCCCCGGCGGCTCT)
6	g.139373409G>A	CA4025591	CITED2	c.536C>T (p.Ser179Phe) c.551C>T (p.Ser184Phe) c.476+60C>T (n.476+60C>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.139373409G>C	CA365876770	CITED2	c.536C>G (p.Ser179Cys) c.551C>G (p.Ser184Cys) c.476+60C>G (n.476+60C>G)
6	g.139373409G=	CA1667372389	CITED2	c.536C= (p.Ser179=) c.551C= (p.Ser184=) c.476+60C= (n.476+60C=)
6	g.139373409G>T	CA365876769	CITED2	c.536C>A (p.Ser179Tyr) c.551C>A (p.Ser184Tyr) c.476+60C>A (n.476+60C>A)	gnomAD v4
6	g.139373435_139373461dup	CA570979107	CITED2	c.510_536dup (p.Ser179_Gly180insGlyGlySerSerThrProGlyGlySer) c.525_551dup (p.Ser184_Gly185insGlyGlySerSerThrProGlyGlySer) c.476+34_476+60dup (n.476+34_476+60dup)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.139373435_139373461del	CA4025590	CITED2	c.510_536del (p.Gly171_Ser179del) c.525_551del (p.Gly176_Ser184del) c.476+34_476+60del (n.476+34_476+60del)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.139373410A=	CA1667372390	CITED2	c.535T= (p.Ser179=) c.550T= (p.Ser184=) c.476+59T= (n.476+59T=)
6	g.139373410A>C	CA4025592	CITED2	c.535T>G (p.Ser179Ala) c.550T>G (p.Ser184Ala) c.476+59T>G (n.476+59T>G)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.139373410A>G	CA365876771	CITED2	c.535T>C (p.Ser179Pro) c.550T>C (p.Ser184Pro) c.476+59T>C (n.476+59T>C)
6	g.139373410A>T	CA365876773	CITED2	c.535T>A (p.Ser179Thr) c.550T>A (p.Ser184Thr) c.476+59T>A (n.476+59T>A)
6	g.139373411G>A	CA452441715	CITED2	c.534C>T (p.Gly178=) c.549C>T (p.Gly183=) c.476+58C>T (n.476+58C>T)	gnomAD v4
6	g.139373411G>C	CA452441713	CITED2	c.534C>G (p.Gly178=) c.549C>G (p.Gly183=) c.476+58C>G (n.476+58C>G)	dbSNP gnomAD v4
6	g.139373411G>T	CA452441714	CITED2	c.534C>A (p.Gly178=) c.549C>A (p.Gly183=) c.476+58C>A (n.476+58C>A)
6	g.139373412C>A	CA4025593	CITED2	c.533G>T (p.Gly178Val) c.548G>T (p.Gly183Val) c.476+57G>T (n.476+57G>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.139373412C=	CA1667372391	CITED2	c.533G= (p.Gly178=) c.548G= (p.Gly183=) c.476+57G= (n.476+57G=)
6	g.139373412C>G	CA4025594	CITED2	c.533G>C (p.Gly178Ala) c.548G>C (p.Gly183Ala) c.476+57G>C (n.476+57G>C)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6	g.139373412C>T	CA365876775	CITED2	c.533G>A (p.Gly178Asp) c.548G>A (p.Gly183Asp) c.476+57G>A (n.476+57G>A)	dbSNP gnomAD v3 gnomAD v4
6	g.139373413C>A	CA4025596	CITED2	c.532G>T (p.Gly178Cys) c.547G>T (p.Gly183Cys) c.476+56G>T (n.476+56G>T)	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.139373413C=	CA1667372392	CITED2	c.532G= (p.Gly178=) c.547G= (p.Gly183=) c.476+56G= (n.476+56G=)
6	g.139373413C>G	CA365876776	CITED2	c.532G>C (p.Gly178Arg) c.547G>C (p.Gly183Arg) c.476+56G>C (n.476+56G>C)
6	g.139373413C>T	CA4025595	CITED2	c.532G>A (p.Gly178Ser) c.547G>A (p.Gly183Ser) c.476+56G>A (n.476+56G>A)	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.139373414G>A	CA4025597	CITED2	c.531C>T (p.Gly177=) c.546C>T (p.Gly182=) c.476+55C>T (n.476+55C>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.139373414G>C	CA148813799	CITED2	c.531C>G (p.Gly177=) c.546C>G (p.Gly182=) c.476+55C>G (n.476+55C>G)	dbSNP gnomAD v4
6	g.139373414G=	CA1667372393	CITED2	c.531C= (p.Gly177=) c.546C= (p.Gly182=) c.476+55C= (n.476+55C=)
6	g.139373414G>T	CA452441718	CITED2	c.531C>A (p.Gly177=) c.546C>A (p.Gly182=) c.476+55C>A (n.476+55C>A)
6	g.139373415C>A	CA365876777	CITED2	c.530G>T (p.Gly177Val) c.545G>T (p.Gly182Val) c.476+54G>T (n.476+54G>T)
6	g.139373415C>G	CA365876778	CITED2	c.530G>C (p.Gly177Ala) c.545G>C (p.Gly182Ala) c.476+54G>C (n.476+54G>C)
6	g.139373415C>T	CA365876779	CITED2	c.530G>A (p.Gly177Asp) c.545G>A (p.Gly182Asp) c.476+54G>A (n.476+54G>A)
6	g.139373416C>A	CA365876781	CITED2	c.529G>T (p.Gly177Cys) c.544G>T (p.Gly182Cys) c.476+53G>T (n.476+53G>T)	gnomAD v4
6	g.139373416C=	CA1667372394	CITED2	c.529G= (p.Gly177=) c.544G= (p.Gly182=) c.476+53G= (n.476+53G=)
6	g.139373416C>G	CA4025598	CITED2	c.529G>C (p.Gly177Arg) c.544G>C (p.Gly182Arg) c.476+53G>C (n.476+53G>C)	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.139373416C>T	CA365876780	CITED2	c.529G>A (p.Gly177Ser) c.544G>A (p.Gly182Ser) c.476+53G>A (n.476+53G>A)	gnomAD v4
6	g.139373417G>A	CA452441720	CITED2	c.528C>T (p.Pro176=) c.543C>T (p.Pro181=) c.476+52C>T (n.476+52C>T)	dbSNP gnomAD v4
6	g.139373417G>C	CA452441723	CITED2	c.528C>G (p.Pro176=) c.543C>G (p.Pro181=) c.476+52C>G (n.476+52C>G)	dbSNP gnomAD v2 gnomAD v4
6	g.139373417G=	CA1667372395	CITED2	c.528C= (p.Pro176=) c.543C= (p.Pro181=) c.476+52C= (n.476+52C=)
6	g.139373417G>T	CA452441721	CITED2	c.528C>A (p.Pro176=) c.543C>A (p.Pro181=) c.476+52C>A (n.476+52C>A)
6	g.139373421del	CA2680562562	CITED2	c.528del (p.Gly177AlafsTer?) c.543del (p.Gly182AlafsTer?) c.476+52del (n.476+52del)	gnomAD v4
6	g.139373418G>A	CA365876783	CITED2	c.527C>T (p.Pro176Leu) c.542C>T (p.Pro181Leu) c.476+51C>T (n.476+51C>T)
6	g.139373418G>C	CA365876782	CITED2	c.527C>G (p.Pro176Arg) c.542C>G (p.Pro181Arg) c.476+51C>G (n.476+51C>G)
6	g.139373418G>T	CA365876784	CITED2	c.527C>A (p.Pro176His) c.542C>A (p.Pro181His) c.476+51C>A (n.476+51C>A)
6	g.139373419G>A	CA365876785	CITED2	c.526C>T (p.Pro176Ser) c.541C>T (p.Pro181Ser) c.476+50C>T (n.476+50C>T)	gnomAD v4
6	g.139373419G>C	CA365876786	CITED2	c.526C>G (p.Pro176Ala) c.541C>G (p.Pro181Ala) c.476+50C>G (n.476+50C>G)
6	g.139373419G=	CA1667372396	CITED2	c.526C= (p.Pro176=) c.541C= (p.Pro181=) c.476+50C= (n.476+50C=)
6	g.139373419G>T	CA365876787	CITED2	c.526C>A (p.Pro176Thr) c.541C>A (p.Pro181Thr) c.476+50C>A (n.476+50C>A)	dbSNP gnomAD v3 gnomAD v4
6	g.139373420G>A	CA452441724	CITED2	c.525C>T (p.Thr175=) c.540C>T (p.Thr180=) c.476+49C>T (n.476+49C>T)
6	g.139373420G>C	CA452441725	CITED2	c.525C>G (p.Thr175=) c.540C>G (p.Thr180=) c.476+49C>G (n.476+49C>G)
6	g.139373420G>T	CA452441726	CITED2	c.525C>A (p.Thr175=) c.540C>A (p.Thr180=) c.476+49C>A (n.476+49C>A)
6	g.139373421G>A	CA148813800	CITED2	c.524C>T (p.Thr175Ile) c.539C>T (p.Thr180Ile) c.476+48C>T (n.476+48C>T)	ClinVar dbSNP gnomAD v4
6	g.139373421G>C	CA365876788	CITED2	c.524C>G (p.Thr175Ser) c.539C>G (p.Thr180Ser) c.476+48C>G (n.476+48C>G)
6	g.139373421G=	CA1667372397	CITED2	c.524C= (p.Thr175=) c.539C= (p.Thr180=) c.476+48C= (n.476+48C=)
6	g.139373421G>T	CA365876789	CITED2	c.524C>A (p.Thr175Asn) c.539C>A (p.Thr180Asn) c.476+48C>A (n.476+48C>A)	dbSNP gnomAD v3 gnomAD v4
6	g.139373421_139373451delinsGTGCTGCTGCCGCCCGAGCCGCCGGGGGTGC	CA1667372398	CITED2	c.494_524delinsGCACCCCCGGCGGCTCGGGCGGCAGCAGCAC (p.Ser165=) c.509_539delinsGCACCCCCGGCGGCTCGGGCGGCAGCAGCAC (p.Ser170=) c.476+18_476+48delinsGCACCCCCGGCGGCTCGGGCGGCAGCAGCAC (n.476+18_476+48delinsGCACCCCCGGCGGCTCGGGCGGCAGCAGCAC)
6	g.139373422T>A	CA365876790	CITED2	c.523A>T (p.Thr175Ser) c.538A>T (p.Thr180Ser) c.476+47A>T (n.476+47A>T)
6	g.139373422T>C	CA365876791	CITED2	c.523A>G (p.Thr175Ala) c.538A>G (p.Thr180Ala) c.476+47A>G (n.476+47A>G)
6	g.139373422T>G	CA365876792	CITED2	c.523A>C (p.Thr175Pro) c.538A>C (p.Thr180Pro) c.476+47A>C (n.476+47A>C)
6	g.139373428_139373430dup	CA4025599	CITED2	c.521_523dup (p.Ser174_Thr175insSer) c.536_538dup (p.Ser179_Thr180insSer) c.476+45_476+47dup (n.476+45_476+47dup)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.139373428_139373457del	CA570979108	CITED2	c.494_523del (p.Ser165_Ser174del) c.509_538del (p.Ser170_Ser179del) c.476+18_476+47del (n.476+18_476+47del)	dbSNP gnomAD v2 gnomAD v4
6	g.139373423G>A	CA452441730	CITED2	c.522C>T (p.Ser174=) c.537C>T (p.Ser179=) c.476+46C>T (n.476+46C>T)	gnomAD v4
6	g.139373423G>C	CA365876793	CITED2	c.522C>G (p.Ser174Arg) c.537C>G (p.Ser179Arg) c.476+46C>G (n.476+46C>G)
6	g.139373423G>T	CA365876794	CITED2	c.522C>A (p.Ser174Arg) c.537C>A (p.Ser179Arg) c.476+46C>A (n.476+46C>A)	gnomAD v4
6	g.139373424C>A	CA365876797	CITED2	c.521G>T (p.Ser174Ile) c.536G>T (p.Ser179Ile) c.476+45G>T (n.476+45G>T)
6	g.139373424C>G	CA365876795	CITED2	c.521G>C (p.Ser174Thr) c.536G>C (p.Ser179Thr) c.476+45G>C (n.476+45G>C)
6	g.139373424C>T	CA365876796	CITED2	c.521G>A (p.Ser174Asn) c.536G>A (p.Ser179Asn) c.476+45G>A (n.476+45G>A)	gnomAD v4
6	g.139373425T>A	CA365876798	CITED2	c.520A>T (p.Ser174Cys) c.535A>T (p.Ser179Cys) c.476+44A>T (n.476+44A>T)
6	g.139373425T>C	CA365876799	CITED2	c.520A>G (p.Ser174Gly) c.535A>G (p.Ser179Gly) c.476+44A>G (n.476+44A>G)	gnomAD v4
6	g.139373425T>G	CA365876800	CITED2	c.520A>C (p.Ser174Arg) c.535A>C (p.Ser179Arg) c.476+44A>C (n.476+44A>C)
6	g.139373426G>A	CA452441734	CITED2	c.519C>T (p.Ser173=) c.534C>T (p.Ser178=) c.476+43C>T (n.476+43C>T)	gnomAD v4
6	g.139373426G>C	CA365876801	CITED2	c.519C>G (p.Ser173Arg) c.534C>G (p.Ser178Arg) c.476+43C>G (n.476+43C>G)
6	g.139373426G>T	CA365876802	CITED2	c.519C>A (p.Ser173Arg) c.534C>A (p.Ser178Arg) c.476+43C>A (n.476+43C>A)
6	g.139373427C>A	CA365876803	CITED2	c.518G>T (p.Ser173Ile) c.533G>T (p.Ser178Ile) c.476+42G>T (n.476+42G>T)
6	g.139373427C>G	CA365876804	CITED2	c.518G>C (p.Ser173Thr) c.533G>C (p.Ser178Thr) c.476+42G>C (n.476+42G>C)
6	g.139373427C>T	CA365876805	CITED2	c.518G>A (p.Ser173Asn) c.533G>A (p.Ser178Asn) c.476+42G>A (n.476+42G>A)	gnomAD v4
6	g.139373428T>A	CA365876806	CITED2	c.517A>T (p.Ser173Cys) c.532A>T (p.Ser178Cys) c.476+41A>T (n.476+41A>T)	gnomAD v4
6	g.139373428T>C	CA365876807	CITED2	c.517A>G (p.Ser173Gly) c.532A>G (p.Ser178Gly) c.476+41A>G (n.476+41A>G)	gnomAD v4
6	g.139373428T>G	CA365876808	CITED2	c.517A>C (p.Ser173Arg) c.532A>C (p.Ser178Arg) c.476+41A>C (n.476+41A>C)
6	g.139373429G>A	CA452441743	CITED2	c.516C>T (p.Gly172=) c.531C>T (p.Gly177=) c.476+40C>T (n.476+40C>T)	dbSNP gnomAD v2 gnomAD v4
6	g.139373429G>C	CA452441739	CITED2	c.516C>G (p.Gly172=) c.531C>G (p.Gly177=) c.476+40C>G (n.476+40C>G)
6	g.139373429G=	CA1667372399	CITED2	c.516C= (p.Gly172=) c.531C= (p.Gly177=) c.476+40C= (n.476+40C=)
6	g.139373429G>T	CA452441740	CITED2	c.516C>A (p.Gly172=) c.531C>A (p.Gly177=) c.476+40C>A (n.476+40C>A)
6	g.139373432_139373434del	CA2578756313	CITED2	c.514_516del (p.Gly172del) c.529_531del (p.Gly177del) c.476+38_476+40del (n.476+38_476+40del)
6	g.139373430C>A	CA365876810	CITED2	c.515G>T (p.Gly172Val) c.530G>T (p.Gly177Val) c.476+39G>T (n.476+39G>T)	gnomAD v4
6	g.139373430C=	CA1667372400	CITED2	c.515G= (p.Gly172=) c.530G= (p.Gly177=) c.476+39G= (n.476+39G=)
6	g.139373430C>G	CA365876809	CITED2	c.515G>C (p.Gly172Ala) c.530G>C (p.Gly177Ala) c.476+39G>C (n.476+39G>C)
6	g.139373430C>T	CA4025600	CITED2	c.515G>A (p.Gly172Asp) c.530G>A (p.Gly177Asp) c.476+39G>A (n.476+39G>A)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.139373431C>A	CA365876811	CITED2	c.514G>T (p.Gly172Cys) c.529G>T (p.Gly177Cys) c.476+38G>T (n.476+38G>T)
6	g.139373431C>G	CA365876812	CITED2	c.514G>C (p.Gly172Arg) c.529G>C (p.Gly177Arg) c.476+38G>C (n.476+38G>C)
6	g.139373431C>T	CA365876813	CITED2	c.514G>A (p.Gly172Ser) c.529G>A (p.Gly177Ser) c.476+38G>A (n.476+38G>A)
6	g.139373432G>A	CA4025601	CITED2	c.513C>T (p.Gly171=) c.528C>T (p.Gly176=) c.476+37C>T (n.476+37C>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.139373432G>C	CA452441751	CITED2	c.513C>G (p.Gly171=) c.528C>G (p.Gly176=) c.476+37C>G (n.476+37C>G)
6	g.139373432G=	CA1667372401	CITED2	c.513C= (p.Gly171=) c.528C= (p.Gly176=) c.476+37C= (n.476+37C=)
6	g.139373432G>T	CA452441748	CITED2	c.513C>A (p.Gly171=) c.528C>A (p.Gly176=) c.476+37C>A (n.476+37C>A)
6	g.139373433C>A	CA365876814	CITED2	c.512G>T (p.Gly171Val) c.527G>T (p.Gly176Val) c.476+36G>T (n.476+36G>T)
6	g.139373433C>G	CA365876815	CITED2	c.512G>C (p.Gly171Ala) c.527G>C (p.Gly176Ala) c.476+36G>C (n.476+36G>C)
6	g.139373433C>T	CA365876816	CITED2	c.512G>A (p.Gly171Asp) c.527G>A (p.Gly176Asp) c.476+36G>A (n.476+36G>A)
6	g.139373434C>A	CA365876817	CITED2	c.511G>T (p.Gly171Cys) c.526G>T (p.Gly176Cys) c.476+35G>T (n.476+35G>T)
6	g.139373434C>G	CA365876818	CITED2	c.511G>C (p.Gly171Arg) c.526G>C (p.Gly176Arg) c.476+35G>C (n.476+35G>C)
6	g.139373434C>T	CA365876819	CITED2	c.511G>A (p.Gly171Ser) c.526G>A (p.Gly176Ser) c.476+35G>A (n.476+35G>A)	gnomAD v4
6	g.139373435C>A	CA148813801	CITED2	c.510G>T (p.Ser170=) c.525G>T (p.Ser175=) c.476+34G>T (n.476+34G>T)	dbSNP gnomAD v3 gnomAD v4
6	g.139373435C=	CA1667372402	CITED2	c.510G= (p.Ser170=) c.525G= (p.Ser175=) c.476+34G= (n.476+34G=)
6	g.139373435C>G	CA4025602	CITED2	c.510G>C (p.Ser170=) c.525G>C (p.Ser175=) c.476+34G>C (n.476+34G>C)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.139373435C>T	CA452441756	CITED2	c.510G>A (p.Ser170=) c.525G>A (p.Ser175=) c.476+34G>A (n.476+34G>A)	dbSNP gnomAD v4
6	g.139373435_139373462delinsCGAGCCGCCGGGGGTGCTGCTGCCGCCG	CA1667372403	CITED2	c.483_510delinsCGGCGGCAGCAGCACCCCCGGCGGCTCG (p.Ser161=) c.498_525delinsCGGCGGCAGCAGCACCCCCGGCGGCTCG (p.Ser166=) c.476+7_476+34delinsCGGCGGCAGCAGCACCCCCGGCGGCTCG (n.476+7_476+34delinsCGGCGGCAGCAGCACCCCCGGCGGCTCG)
6	g.139373436G>A	CA365876822	CITED2	c.509C>T (p.Ser170Leu) c.524C>T (p.Ser175Leu) c.476+33C>T (n.476+33C>T)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.139373436G>C	CA365876821	CITED2	c.509C>G (p.Ser170Trp) c.524C>G (p.Ser175Trp) c.476+33C>G (n.476+33C>G)
6	g.139373436G=	CA1667372404	CITED2	c.509C= (p.Ser170=) c.524C= (p.Ser175=) c.476+33C= (n.476+33C=)
6	g.139373436G>T	CA365876820	CITED2	c.509C>A (p.Ser170Ter) c.524C>A (p.Ser175Ter) c.476+33C>A (n.476+33C>A)	gnomAD v4
6	g.139373436_139373462del	CA570979109	CITED2	c.483_509del (p.Ser161_Ser170delinsArg) c.498_524del (p.Ser166_Ser175delinsArg) c.476+7_476+33del (n.476+7_476+33del)	dbSNP gnomAD v2
6	g.139373437A=	CA1667372405	CITED2	c.508T= (p.Ser170=) c.523T= (p.Ser175=) c.476+32T= (n.476+32T=)
6	g.139373437A>C	CA365876823	CITED2	c.508T>G (p.Ser170Ala) c.523T>G (p.Ser175Ala) c.476+32T>G (n.476+32T>G)
6	g.139373437A>G	CA365876824	CITED2	c.508T>C (p.Ser170Pro) c.523T>C (p.Ser175Pro) c.476+32T>C (n.476+32T>C)	dbSNP gnomAD v4
6	g.139373437A>T	CA365876825	CITED2	c.508T>A (p.Ser170Thr) c.523T>A (p.Ser175Thr) c.476+32T>A (n.476+32T>A)
6	g.139373437_139373446delinsAGCCGCCGGG	CA1667372406	CITED2	c.499_508delinsCCCGGCGGCT (p.Pro167=) c.514_523delinsCCCGGCGGCT (p.Pro172=) c.476+23_476+32delinsCCCGGCGGCT (n.476+23_476+32delinsCCCGGCGGCT)
6	g.139373438G>A	CA452441762	CITED2	c.507C>T (p.Gly169=) c.522C>T (p.Gly174=) c.476+31C>T (n.476+31C>T)	gnomAD v4
6	g.139373438G>C	CA452441763	CITED2	c.507C>G (p.Gly169=) c.522C>G (p.Gly174=) c.476+31C>G (n.476+31C>G)
6	g.139373438G>T	CA452441764	CITED2	c.507C>A (p.Gly169=) c.522C>A (p.Gly174=) c.476+31C>A (n.476+31C>A)	gnomAD v4
6	g.139373439_139373447del	CA1095070814	CITED2	c.499_507del (p.Pro167_Gly169del) c.514_522del (p.Pro172_Gly174del) c.476+23_476+31del (n.476+23_476+31del)	dbSNP gnomAD v3 gnomAD v4
6	g.139373439C>A	CA365876826	CITED2	c.506G>T (p.Gly169Val) c.521G>T (p.Gly174Val) c.476+30G>T (n.476+30G>T)	dbSNP gnomAD v2 gnomAD v4
6	g.139373439C=	CA1667372407	CITED2	c.506G= (p.Gly169=) c.521G= (p.Gly174=) c.476+30G= (n.476+30G=)
6	g.139373439C>G	CA365876827	CITED2	c.506G>C (p.Gly169Ala) c.521G>C (p.Gly174Ala) c.476+30G>C (n.476+30G>C)
6	g.139373439C>T	CA4025603	CITED2	c.506G>A (p.Gly169Asp) c.521G>A (p.Gly174Asp) c.476+30G>A (n.476+30G>A)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.139373440C>A	CA365876828	CITED2	c.505G>T (p.Gly169Cys) c.520G>T (p.Gly174Cys) c.476+29G>T (n.476+29G>T)	gnomAD v4
6	g.139373440C=	CA1667372408	CITED2	c.505G= (p.Gly169=) c.520G= (p.Gly174=) c.476+29G= (n.476+29G=)
6	g.139373440C>G	CA365876829	CITED2	c.505G>C (p.Gly169Arg) c.520G>C (p.Gly174Arg) c.476+29G>C (n.476+29G>C)
6	g.139373440C>T	CA365876830	CITED2	c.505G>A (p.Gly169Ser) c.520G>A (p.Gly174Ser) c.476+29G>A (n.476+29G>A)	dbSNP gnomAD v3 gnomAD v4
6	g.139373441G>A	CA4025604	CITED2	c.504C>T (p.Gly168=) c.519C>T (p.Gly173=) c.476+28C>T (n.476+28C>T)	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.139373441G>C	CA452441766	CITED2	c.504C>G (p.Gly168=) c.519C>G (p.Gly173=) c.476+28C>G (n.476+28C>G)
6	g.139373441G=	CA1667372409	CITED2	c.504C= (p.Gly168=) c.519C= (p.Gly173=) c.476+28C= (n.476+28C=)
6	g.139373441G>T	CA452441767	CITED2	c.504C>A (p.Gly168=) c.519C>A (p.Gly173=) c.476+28C>A (n.476+28C>A)	gnomAD v4
6	g.139373442C>A	CA365876831	CITED2	c.503G>T (p.Gly168Val) c.518G>T (p.Gly173Val) c.476+27G>T (n.476+27G>T)
6	g.139373442C>G	CA365876832	CITED2	c.503G>C (p.Gly168Ala) c.518G>C (p.Gly173Ala) c.476+27G>C (n.476+27G>C)
6	g.139373442C>T	CA365876833	CITED2	c.503G>A (p.Gly168Asp) c.518G>A (p.Gly173Asp) c.476+27G>A (n.476+27G>A)	gnomAD v4
6	g.139373443C>A	CA365876834	CITED2	c.502G>T (p.Gly168Cys) c.517G>T (p.Gly173Cys) c.476+26G>T (n.476+26G>T)
6	g.139373443C=	CA1667372410	CITED2	c.502G= (p.Gly168=) c.517G= (p.Gly173=) c.476+26G= (n.476+26G=)
6	g.139373443C>G	CA365876835	CITED2	c.502G>C (p.Gly168Arg) c.517G>C (p.Gly173Arg) c.476+26G>C (n.476+26G>C)
6	g.139373443C>T	CA4025605	CITED2	c.502G>A (p.Gly168Ser) c.517G>A (p.Gly173Ser) c.476+26G>A (n.476+26G>A)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.139373444G>A	CA4025606	CITED2	c.501C>T (p.Pro167=) c.516C>T (p.Pro172=) c.476+25C>T (n.476+25C>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.139373444G>C	CA452441771	CITED2	c.501C>G (p.Pro167=) c.516C>G (p.Pro172=) c.476+25C>G (n.476+25C>G)	dbSNP gnomAD v3 gnomAD v4
6	g.139373444G=	CA1667372411	CITED2	c.501C= (p.Pro167=) c.516C= (p.Pro172=) c.476+25C= (n.476+25C=)
6	g.139373444G>T	CA452441772	CITED2	c.501C>A (p.Pro167=) c.516C>A (p.Pro172=) c.476+25C>A (n.476+25C>A)	gnomAD v4
6	g.139373448dup	CA2680562563	CITED2	c.501dup (p.Gly168ArgfsTer?) c.516dup (p.Gly173ArgfsTer?) c.476+25dup (n.476+25dup)	gnomAD v4
6	g.139373448del	CA2680562564	CITED2	c.501del (p.Gly168AlafsTer?) c.516del (p.Gly173AlafsTer?) c.476+25del (n.476+25del)	gnomAD v4
6	g.139373445G>A	CA4025608	CITED2	c.500C>T (p.Pro167Leu) c.515C>T (p.Pro172Leu) c.476+24C>T (n.476+24C>T)	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.139373445G>C	CA365876836	CITED2	c.500C>G (p.Pro167Arg) c.515C>G (p.Pro172Arg) c.476+24C>G (n.476+24C>G)
6	g.139373445G=	CA1667372412	CITED2	c.500C= (p.Pro167=) c.515C= (p.Pro172=) c.476+24C= (n.476+24C=)
6	g.139373445G>T	CA4025607	CITED2	c.500C>A (p.Pro167His) c.515C>A (p.Pro172His) c.476+24C>A (n.476+24C>A)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.139373446G>A	CA365876837	CITED2	c.499C>T (p.Pro167Ser) c.514C>T (p.Pro172Ser) c.476+23C>T (n.476+23C>T)
6	g.139373446G>C	CA365876838	CITED2	c.499C>G (p.Pro167Ala) c.514C>G (p.Pro172Ala) c.476+23C>G (n.476+23C>G)
6	g.139373446G>T	CA365876839	CITED2	c.499C>A (p.Pro167Thr) c.514C>A (p.Pro172Thr) c.476+23C>A (n.476+23C>A)
6	g.139373446_139373463del	CA2773276766	CITED2	c.482_499del (p.Ser161_Pro167delinsThr) c.497_514del (p.Ser166_Pro172delinsThr) c.476+6_476+23del (n.476+6_476+23del)
6	g.139373447G>A	CA452441777	CITED2	c.498C>T (p.Thr166=) c.513C>T (p.Thr171=) c.476+22C>T (n.476+22C>T)	gnomAD v4
6	g.139373447G>C	CA452441778	CITED2	c.498C>G (p.Thr166=) c.513C>G (p.Thr171=) c.476+22C>G (n.476+22C>G)
6	g.139373447G>T	CA452441779	CITED2	c.498C>A (p.Thr166=) c.513C>A (p.Thr171=) c.476+22C>A (n.476+22C>A)
6	g.139373448G>A	CA4025609	CITED2	c.497C>T (p.Thr166Ile) c.512C>T (p.Thr171Ile) c.476+21C>T (n.476+21C>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.139373448G>C	CA365876840	CITED2	c.497C>G (p.Thr166Ser) c.512C>G (p.Thr171Ser) c.476+21C>G (n.476+21C>G)	dbSNP gnomAD v4
6	g.139373448G=	CA1667372413	CITED2	c.497C= (p.Thr166=) c.512C= (p.Thr171=) c.476+21C= (n.476+21C=)
6	g.139373448G>T	CA4025610	CITED2	c.497C>A (p.Thr166Asn) c.512C>A (p.Thr171Asn) c.476+21C>A (n.476+21C>A)	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.139373449T>A	CA365876841	CITED2	c.496A>T (p.Thr166Ser) c.511A>T (p.Thr171Ser) c.476+20A>T (n.476+20A>T)
6	g.139373449T>C	CA365876842	CITED2	c.496A>G (p.Thr166Ala) c.511A>G (p.Thr171Ala) c.476+20A>G (n.476+20A>G)
6	g.139373449T>G	CA365876843	CITED2	c.496A>C (p.Thr166Pro) c.511A>C (p.Thr171Pro) c.476+20A>C (n.476+20A>C)
6	g.139373455_139373457dup	CA2680562565	CITED2	c.494_496dup (p.Ser165_Thr166insSer) c.509_511dup (p.Ser170_Thr171insSer) c.476+18_476+20dup (n.476+18_476+20dup)	gnomAD v4
6	g.139373450G>A	CA452441781	CITED2	c.495C>T (p.Ser165=) c.510C>T (p.Ser170=) c.476+19C>T (n.476+19C>T)	gnomAD v4
6	g.139373450G>C	CA365876844	CITED2	c.495C>G (p.Ser165Arg) c.510C>G (p.Ser170Arg) c.476+19C>G (n.476+19C>G)
6	g.139373450G>T	CA365876845	CITED2	c.495C>A (p.Ser165Arg) c.510C>A (p.Ser170Arg) c.476+19C>A (n.476+19C>A)	ClinVar

Number of alleles fetched