Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.197705407_197707188dup	CA645372705	MARS2	c.2_1dup (n.2_1dup)	ClinVar
2	g.197706085_197706353delinsGGGGCAACCCTCAGGCGATCACCCCCGAACCATTTCATCACGTAGTTCTTCAGTGGCTGGACGAGGAGCTGCCCGACCTGTCCGTGTCTCGCAGAAGTAGCCACTTGCACTGGGGCATTCCGGTGCCCGGGGATGATTCGCAGACCATCTATGTATGGCTGGATGCCCTGGTCAACTACCTCACTGTAATTGGCTACCCAAATGCTGAGTTCAAATCTTGGTGGCCGGCCACCTCTCATATCATAGGTAAGGACATTCTCAAATTCCAT	CA1319359945	MARS2	c.680_948delinsGGGGCAACCCTCAGGCGATCACCCCCGAACCATTTCATCACGTAGTTCTTCAGTGGCTGGACGAGGAGCTGCCCGACCTGTCCGTGTCTCGCAGAAGTAGCCACTTGCACTGGGGCATTCCGGTGCCCGGGGATGATTCGCAGACCATCTATGTATGGCTGGATGCCCTGGTCAACTACCTCACTGTAATTGGCTACCCAAATGCTGAGTTCAAATCTTGGTGGCCGGCCACCTCTCATATCATAGGTAAGGACATTCTCAAATTCCAT (p.Arg227=)
2	g.197706087_197706354del	CA150598	MARS2	c.682_949del (p.Gly228ProfsTer9)	ClinVar dbSNP
2	g.197706313C>A	CA350213354	MARS2	c.908C>A (p.Ala303Asp)
2	g.197706313C>G	CA350213352	MARS2	c.908C>G (p.Ala303Gly)
2	g.197706313C>T	CA350213353	MARS2	c.908C>T (p.Ala303Val)
2	g.197706314C>A	CA430823628	MARS2	c.909C>A (p.Ala303=)
2	g.197706314C>G	CA430823632	MARS2	c.909C>G (p.Ala303=)
2	g.197706314C>T	CA430823633	MARS2	c.909C>T (p.Ala303=)
2	g.197706315A>C	CA350213355	MARS2	c.910A>C (p.Thr304Pro)
2	g.197706315A>G	CA350213356	MARS2	c.910A>G (p.Thr304Ala)
2	g.197706315A>T	CA350213357	MARS2	c.910A>T (p.Thr304Ser)
2	g.197706316C>A	CA350213358	MARS2	c.911C>A (p.Thr304Asn)
2	g.197706316C>G	CA350213359	MARS2	c.911C>G (p.Thr304Ser)
2	g.197706316C>T	CA350213360	MARS2	c.911C>T (p.Thr304Ile)
2	g.197706316_197706318delinsCCT	CA1319360252	MARS2	c.911_913delinsCCT (p.Thr304=)
2	g.197706317C>A	CA430823641	MARS2	c.912C>A (p.Thr304=)	gnomAD v4
2	g.197706317C=	CA1319360256	MARS2	c.912C= (p.Thr304=)
2	g.197706317C>G	CA430823643	MARS2	c.912C>G (p.Thr304=)	dbSNP gnomAD v2 gnomAD v4 COSMIC
2	g.197706317C>T	CA2044660	MARS2	c.912C>T (p.Thr304=)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.197706320_197706321del	CA2044659	MARS2	c.915_916del (p.His306TyrfsTer4)	dbSNP ExAC gnomAD v4
2	g.197706318T>A	CA350213361	MARS2	c.913T>A (p.Ser305Thr)
2	g.197706318T>C	CA350213362	MARS2	c.913T>C (p.Ser305Pro)
2	g.197706318T>G	CA350213363	MARS2	c.913T>G (p.Ser305Ala)	COSMIC
2	g.197706319C>A	CA350213365	MARS2	c.914C>A (p.Ser305Tyr)	COSMIC
2	g.197706319C=	CA1319360262	MARS2	c.914C= (p.Ser305=)
2	g.197706319C>G	CA2044661	MARS2	c.914C>G (p.Ser305Cys)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.197706319C>T	CA350213364	MARS2	c.914C>T (p.Ser305Phe)
2	g.197706319_197706324delinsCTCATA	CA1319360263	MARS2	c.914_919delinsCTCATA (p.Ser305=)
2	g.197706320T>A	CA430823659	MARS2	c.915T>A (p.Ser305=)
2	g.197706320T>C	CA430823661	MARS2	c.915T>C (p.Ser305=)
2	g.197706320T>G	CA430823665	MARS2	c.915T>G (p.Ser305=)
2	g.197706325_197706329del	CA916747671	MARS2	c.920_924del (p.Ile307ArgfsTer2)	dbSNP gnomAD v3 gnomAD v4
2	g.197706321C>A	CA350213366	MARS2	c.916C>A (p.His306Asn)	dbSNP
2	g.197706321C=	CA1319360270	MARS2	c.916C= (p.His306=)
2	g.197706321C>G	CA350213368	MARS2	c.916C>G (p.His306Asp)
2	g.197706321C>T	CA350213367	MARS2	c.916C>T (p.His306Tyr)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.197706321_197706323delinsCAT	CA1319360269	MARS2	c.916_918delinsCAT (p.His306=)
2	g.197706322A=	CA1319360274	MARS2	c.917A= (p.His306=)
2	g.197706322A>C	CA350213369	MARS2	c.917A>C (p.His306Pro)
2	g.197706322A>G	CA350213370	MARS2	c.917A>G (p.His306Arg)	dbSNP gnomAD v2 gnomAD v4
2	g.197706322A>T	CA350213371	MARS2	c.917A>T (p.His306Leu)
2	g.197706324_197706325del	CA538917142	MARS2	c.919_920del (p.Ile307HisfsTer3)	dbSNP gnomAD v2 gnomAD v4
2	g.197706323T>A	CA350213372	MARS2	c.918T>A (p.His306Gln)
2	g.197706323T>C	CA430823673	MARS2	c.918T>C (p.His306=)	ClinVar dbSNP gnomAD v4
2	g.197706323T>G	CA350213373	MARS2	c.918T>G (p.His306Gln)
2	g.197706323T=	CA1319360277	MARS2	c.918T= (p.His306=)
2	g.197706323_197706326delinsTATC	CA1319360278	MARS2	c.918_921delinsTATC (p.His306=)
2	g.197706324A>C	CA350213374	MARS2	c.919A>C (p.Ile307Leu)	COSMIC
2	g.197706324A>G	CA350213375	MARS2	c.919A>G (p.Ile307Val)

Number of alleles fetched