Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.47401439_47411294del	CA331194			ClinVar
2	g.47403280_47410368delinsAATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATT	CA658760387	MSH2	c.89_641delinsAATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATT c.-30-80_443delinsAATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATT n.161_713delinsAATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATT n.151_703delinsAATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATT
2	g.47408402_47410373del	CA2581463448	MSH2	c.213_645+1del c.15_447+1del n.285_717+1del n.275_707+1del
2	g.47409413_47411458del	CA331584	MSH2	c.367-681_646-956del c.169-681_448-956del n.439-681_718-956del n.429-681_708-956del	ClinVar
2	g.47409567_47410219delinsTTGGCCAGGACGGTCTCGATCTCCTGACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACAGCACTCAGCCAGTTATTTTTTTATAAGAAAACATTTTACTGGCCAGGCCTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGTGCGCCTGTATTCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGATTGAACCCTTGAGGCAGAGGTTGCAGTGAGTTGAGATCGCACCATTGCACTCTAGCCTGGGTGACAGAGCAAGACTTCATCTCAAAAAAAAGAGAAAACATTTTATTAATAAGGTTCATAGAGTTTGGATTTTTCCTTTTTGCTTATAAAATTTTAAAGTATGTTCAAGAGTTTGTTAAATTTTTAAAATTTTATTTTTACTTAGGCTTCTCCTGGCAATCTCTCTCAGTTTGAAGACATTCTCTTTGGTAACAATGATATGTCAGCTTCCATTGGTGTTGTGGGTGTTAAAATGTCCGCAGTTGATGGCCAGAGACAGGTTGGAGTTGGG	CA2495830775	MSH2	c.367-527_492delinsTTGGCCAGGACGGTCTCGATCTCCTGACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACAGCACTCAGCCAGTTATTTTTTTATAAGAAAACATTTTACTGGCCAGGCCTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGTGCGCCTGTATTCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGATTGAACCCTTGAGGCAGAGGTTGCAGTGAGTTGAGATCGCACCATTGCACTCTAGCCTGGGTGACAGAGCAAGACTTCATCTCAAAAAAAAGAGAAAACATTTTATTAATAAGGTTCATAGAGTTTGGATTTTTCCTTTTTGCTTATAAAATTTTAAAGTATGTTCAAGAGTTTGTTAAATTTTTAAAATTTTATTTTTACTTAGGCTTCTCCTGGCAATCTCTCTCAGTTTGAAGACATTCTCTTTGGTAACAATGATATGTCAGCTTCCATTGGTGTTGTGGGTGTTAAAATGTCCGCAGTTGATGGCCAGAGACAGGTTGGAGTTGGG c.169-527_294delinsTTGGCCAGGACGGTCTCGATCTCCTGACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACAGCACTCAGCCAGTTATTTTTTTATAAGAAAACATTTTACTGGCCAGGCCTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGTGCGCCTGTATTCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGATTGAACCCTTGAGGCAGAGGTTGCAGTGAGTTGAGATCGCACCATTGCACTCTAGCCTGGGTGACAGAGCAAGACTTCATCTCAAAAAAAAGAGAAAACATTTTATTAATAAGGTTCATAGAGTTTGGATTTTTCCTTTTTGCTTATAAAATTTTAAAGTATGTTCAAGAGTTTGTTAAATTTTTAAAATTTTATTTTTACTTAGGCTTCTCCTGGCAATCTCTCTCAGTTTGAAGACATTCTCTTTGGTAACAATGATATGTCAGCTTCCATTGGTGTTGTGGGTGTTAAAATGTCCGCAGTTGATGGCCAGAGACAGGTTGGAGTTGGG n.439-527_564delinsTTGGCCAGGACGGTCTCGATCTCCTGACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACAGCACTCAGCCAGTTATTTTTTTATAAGAAAACATTTTACTGGCCAGGCCTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGTGCGCCTGTATTCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGATTGAACCCTTGAGGCAGAGGTTGCAGTGAGTTGAGATCGCACCATTGCACTCTAGCCTGGGTGACAGAGCAAGACTTCATCTCAAAAAAAAGAGAAAACATTTTATTAATAAGGTTCATAGAGTTTGGATTTTTCCTTTTTGCTTATAAAATTTTAAAGTATGTTCAAGAGTTTGTTAAATTTTTAAAATTTTATTTTTACTTAGGCTTCTCCTGGCAATCTCTCTCAGTTTGAAGACATTCTCTTTGGTAACAATGATATGTCAGCTTCCATTGGTGTTGTGGGTGTTAAAATGTCCGCAGTTGATGGCCAGAGACAGGTTGGAGTTGGG n.429-527_554delinsTTGGCCAGGACGGTCTCGATCTCCTGACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACAGCACTCAGCCAGTTATTTTTTTATAAGAAAACATTTTACTGGCCAGGCCTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGTGCGCCTGTATTCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGATTGAACCCTTGAGGCAGAGGTTGCAGTGAGTTGAGATCGCACCATTGCACTCTAGCCTGGGTGACAGAGCAAGACTTCATCTCAAAAAAAAGAGAAAACATTTTATTAATAAGGTTCATAGAGTTTGGATTTTTCCTTTTTGCTTATAAAATTTTAAAGTATGTTCAAGAGTTTGTTAAATTTTTAAAATTTTATTTTTACTTAGGCTTCTCCTGGCAATCTCTCTCAGTTTGAAGACATTCTCTTTGGTAACAATGATATGTCAGCTTCCATTGGTGTTGTGGGTGTTAAAATGTCCGCAGTTGATGGCCAGAGACAGGTTGGAGTTGGG
2	g.47409569_47410220del	CA658795727	MSH2	c.367-525_493del c.169-525_295del n.439-525_565del n.429-525_555del	ClinVar dbSNP
2	g.47409628_47411030del	CA331583	MSH2	c.367-466_645+658del c.169-466_447+658del n.439-466_717+658del n.429-466_707+658del	ClinVar
2	g.47409642_47411692del	CA331582	MSH2	c.367-452_646-722del c.169-452_448-722del n.439-452_718-722del n.429-452_708-722del	ClinVar
2	g.47409723_47411901del	CA331581	MSH2	c.367-371_646-513del c.169-371_448-513del n.439-371_718-513del n.429-371_708-513del	ClinVar
2	g.47410092_47411114del	CA2499216005	MSH2	c.367-2_645+742del c.169-2_447+742del n.439-2_717+742del n.429-2_707+742del	ClinVar
2	g.47410092_47410804del	CA2499216007	MSH2	c.367-2_645+432del c.169-2_447+432del n.439-2_717+432del n.429-2_707+432del	ClinVar dbSNP
2	g.47410091_47411003del	CA2499216006	MSH2	c.367-3_645+631del c.169-3_447+631del n.439-3_717+631del n.429-3_707+631del	ClinVar dbSNP
2	g.47410092_47410373del	CA2499216008	MSH2	c.367-2_645+1del c.169-2_447+1del n.439-2_717+1del n.429-2_707+1del	ClinVar dbSNP
2	g.47410095_47410373del	CA2581463443	MSH2	c.368_645+1del c.170_447+1del n.440_717+1del n.430_707+1del
2	g.47410172_47410183del	CA645369181	MSH2	c.445_456del (p.Gly149_Met152del) c.247_258del (p.Gly83_Met86del) n.517_528del n.507_518del	ClinVar dbSNP
2	g.47410182T>A	CA346730499	MSH2	c.455T>A (p.Met152Lys) c.257T>A (p.Met86Lys) n.527T>A n.517T>A	dbSNP
2	g.47410182T>C	CA346730500	MSH2	c.455T>C (p.Met152Thr) c.257T>C (p.Met86Thr) n.527T>C n.517T>C
2	g.47410182T>G	CA346730501	MSH2	c.455T>G (p.Met152Arg) c.257T>G (p.Met86Arg) n.527T>G n.517T>G	dbSNP
2	g.47410183G>A	CA346730504	MSH2	c.456G>A (p.Met152Ile) c.258G>A (p.Met86Ile) n.528G>A n.518G>A	ClinVar dbSNP
2	g.47410183G>C	CA346730503	MSH2	c.456G>C (p.Met152Ile) c.258G>C (p.Met86Ile) n.528G>C n.518G>C	dbSNP
2	g.47410183G=	CA2495831190	MSH2	c.456G= (p.Met152=) c.258G= (p.Met86=) n.528G= n.518G=
2	g.47410183G>T	CA346730502	MSH2	c.456G>T (p.Met152Ile) c.258G>T (p.Met86Ile) n.528G>T n.518G>T
2	g.47410184T>A	CA346730505	MSH2	c.457T>A (p.Ser153Thr) c.259T>A (p.Ser87Thr) n.529T>A n.519T>A
2	g.47410184T>C	CA346730507	MSH2	c.457T>C (p.Ser153Pro) c.259T>C (p.Ser87Pro) n.529T>C n.519T>C	ClinVar
2	g.47410184T>G	CA346730508	MSH2	c.457T>G (p.Ser153Ala) c.259T>G (p.Ser87Ala) n.529T>G n.519T>G	ClinVar
2	g.47410185C>A	CA346730510	MSH2	c.458C>A (p.Ser153Tyr) c.260C>A (p.Ser87Tyr) n.530C>A n.520C>A	dbSNP
2	g.47410185C=	CA2495831191	MSH2	c.458C= (p.Ser153=) c.260C= (p.Ser87=) n.530C= n.520C=
2	g.47410185C>G	CA038814	MSH2	c.458C>G (p.Ser153Cys) c.260C>G (p.Ser87Cys) n.530C>G n.520C>G	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.47410185C>T	CA346730512	MSH2	c.458C>T (p.Ser153Phe) c.260C>T (p.Ser87Phe) n.530C>T n.520C>T	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.47410186del	CA2499216010	MSH2	c.459del (p.Ala154GlnfsTer20) c.261del (p.Ala88GlnfsTer20) n.531del n.521del	ClinVar dbSNP
2	g.47410186C>A	CA426119495	MSH2	c.459C>A (p.Ser153=) c.261C>A (p.Ser87=) n.531C>A n.521C>A	dbSNP
2	g.47410186C=	CA2495831192	MSH2	c.459C= (p.Ser153=) c.261C= (p.Ser87=) n.531C= n.521C=
2	g.47410186C>G	CA426119496	MSH2	c.459C>G (p.Ser153=) c.261C>G (p.Ser87=) n.531C>G n.521C>G	dbSNP gnomAD v4
2	g.47410186C>T	CA021179	MSH2	c.459C>T (p.Ser153=) c.261C>T (p.Ser87=) n.531C>T n.521C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.47410187G>A	CA038871	MSH2	c.460G>A (p.Ala154Thr) c.262G>A (p.Ala88Thr) n.532G>A n.522G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.47410187G>C	CA346730516	MSH2	c.460G>C (p.Ala154Pro) c.262G>C (p.Ala88Pro) n.532G>C n.522G>C	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.47410187G=	CA2495831193	MSH2	c.460G= (p.Ala154=) c.262G= (p.Ala88=) n.532G= n.522G=
2	g.47410187G>T	CA346730518	MSH2	c.460G>T (p.Ala154Ser) c.262G>T (p.Ala88Ser) n.532G>T n.522G>T	dbSNP gnomAD v2 gnomAD v4
2	g.47410188C>A	CA346730520	MSH2	c.461C>A (p.Ala154Glu) c.263C>A (p.Ala88Glu) n.533C>A n.523C>A	dbSNP
2	g.47410188C=	CA2495831194	MSH2	c.461C= (p.Ala154=) c.263C= (p.Ala88=) n.533C= n.523C=
2	g.47410188C>G	CA346730522	MSH2	c.461C>G (p.Ala154Gly) c.263C>G (p.Ala88Gly) n.533C>G n.523C>G	dbSNP
2	g.47410188C>T	CA346730524	MSH2	c.461C>T (p.Ala154Val) c.263C>T (p.Ala88Val) n.533C>T n.523C>T	ClinVar dbSNP gnomAD v4
2	g.47410189A=	CA2495831195	MSH2	c.462A= (p.Ala154=) c.264A= (p.Ala88=) n.534A= n.524A=
2	g.47410189A>C	CA426119500	MSH2	c.462A>C (p.Ala154=) c.264A>C (p.Ala88=) n.534A>C n.524A>C	ClinVar dbSNP gnomAD v4
2	g.47410189A>G	CA426119501	MSH2	c.462A>G (p.Ala154=) c.264A>G (p.Ala88=) n.534A>G n.524A>G	ClinVar
2	g.47410189A>T	CA426119502	MSH2	c.462A>T (p.Ala154=) c.264A>T (p.Ala88=) n.534A>T n.524A>T	dbSNP
2	g.47410189_47410190delinsAG	CA2495831196	MSH2	c.462_463delinsAG (p.Ala154=) c.264_265delinsAG (p.Ala88=) n.534_535delinsAG n.524_525delinsAG
2	g.47410190del	CA916080245	MSH2	c.463del (p.Val155LeufsTer19) c.265del (p.Val89LeufsTer19) n.535del n.525del	ClinVar dbSNP
2	g.47410190G>A	CA346730527	MSH2	c.463G>A (p.Val155Ile) c.265G>A (p.Val89Ile) n.535G>A n.525G>A	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.47410190G>C	CA346730528	MSH2	c.463G>C (p.Val155Leu) c.265G>C (p.Val89Leu) n.535G>C n.525G>C	dbSNP gnomAD v4

Number of alleles fetched