Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.80108600_80108601delinsTC	CA2277812850	GAA	c.1187_1188delinsTC (p.Phe396=)
17	g.80108601C>A	CA401365132	GAA	c.1188C>A (p.Phe396Leu)
17	g.80108601C=	CA2277812851	GAA	c.1188C= (p.Phe396=)
17	g.80108601C>G	CA8815195	GAA	c.1188C>G (p.Phe396Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80108601C>T	CA502402436	GAA	c.1188C>T (p.Phe396=)	ClinVar dbSNP COSMIC
17	g.80108605dup	CA16041890	GAA	c.1192dup (p.Leu398ProfsTer?)	ClinVar dbSNP
17	g.80108605del	CA628018372	GAA	c.1192del (p.Leu398TrpfsTer?)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.80108602C>A	CA401365133	GAA	c.1189C>A (p.Pro397Thr)
17	g.80108602C>G	CA401365134	GAA	c.1189C>G (p.Pro397Ala)
17	g.80108602C>T	CA401365135	GAA	c.1189C>T (p.Pro397Ser)
17	g.80108603C>A	CA401365136	GAA	c.1190C>A (p.Pro397His)
17	g.80108603C=	CA2277812852	GAA	c.1190C= (p.Pro397=)
17	g.80108603C>G	CA8815196	GAA	c.1190C>G (p.Pro397Arg)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80108603C>T	CA8815197	GAA	c.1190C>T (p.Pro397Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
17	g.80108604C>A	CA502402437	GAA	c.1191C>A (p.Pro397=)
17	g.80108604C=	CA2277812853	GAA	c.1191C= (p.Pro397=)
17	g.80108604C>G	CA294892311	GAA	c.1191C>G (p.Pro397=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80108604C>T	CA502402438	GAA	c.1191C>T (p.Pro397=)	gnomAD v4
17	g.80108605C>A	CA8815198	GAA	c.1192C>A (p.Leu398Met)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80108605C=	CA2277812854	GAA	c.1192C= (p.Leu398=)
17	g.80108605C>G	CA401365137	GAA	c.1192C>G (p.Leu398Val)
17	g.80108605C>T	CA8815199	GAA	c.1192C>T (p.Leu398=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80108605_80108606delinsCT	CA2277812855	GAA	c.1192_1193delinsCT (p.Leu398=)
17	g.80108606del	CA16041891	GAA	c.1193del (p.Leu398ArgfsTer?)	ClinVar dbSNP gnomAD v4
17	g.80108606T>A	CA401365138	GAA	c.1193T>A (p.Leu398Gln)
17	g.80108606T>C	CA401365139	GAA	c.1193T>C (p.Leu398Pro)	ClinVar dbSNP
17	g.80108606T>G	CA401365140	GAA	c.1193T>G (p.Leu398Arg)
17	g.80108606T=	CA2277812856	GAA	c.1193T= (p.Leu398=)
17	g.80108606_80108628delinsTGGTGAGTTGGGGTGGTGGCAGG	CA2277812857	GAA	c.1193_1194+21delinsTGGTGAGTTGGGGTGGTGGCAGG
17	g.80108607G>A	CA502402441	GAA	c.1194G>A (p.Leu398=)
17	g.80108607G>C	CA502402439	GAA	c.1194G>C (p.Leu398=)
17	g.80108607G>T	CA502402440	GAA	c.1194G>T (p.Leu398=)
17	g.80108609_80108630del	CA919905431	GAA	c.1194+2_1194+23del	dbSNP gnomAD v4
17	g.80108608G>A	CA401365141	GAA	c.1194+1G>A (n.1194+1G>A)
17	g.80108608G>C	CA401365142	GAA	c.1194+1G>C (n.1194+1G>C)
17	g.80108608G>T	CA401365143	GAA	c.1194+1G>T (n.1194+1G>T)
17	g.80108609T>A	CA401365144	GAA	c.1194+2T>A (n.1194+2T>A)
17	g.80108609T>C	CA16041892	GAA	c.1194+2T>C (n.1194+2T>C)	ClinVar dbSNP
17	g.80108609T>G	CA401365145	GAA	c.1194+2T>G (n.1194+2T>G)
17	g.80108609T=	CA2277812858	GAA	c.1194+2T= (n.1194+2T=)
17	g.80108610G>C	CA247031	GAA	c.1194+3G>C (n.1194+3G>C)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80108610G=	CA2277812859	GAA	c.1194+3G= (n.1194+3G=)
17	g.80108610G>T	CA2525810184	GAA	c.1194+3G>T (n.1194+3G>T)	ClinVar dbSNP
17	g.80108612G>A	CA658795243	GAA	c.1194+5G>A (n.1194+5G>A)	ClinVar dbSNP gnomAD v4
17	g.80108612G=	CA2277812860	GAA	c.1194+5G= (n.1194+5G=)
17	g.80108613T>C	CA628018373	GAA	c.1194+6T>C (n.1194+6T>C)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.80108613T=	CA2277812861	GAA	c.1194+6T= (n.1194+6T=)
17	g.80108615G>T	CA2499225005	GAA	c.1194+8G>T (n.1194+8G>T)	ClinVar dbSNP
17	g.80108618del	CA2573154956	GAA	c.1194+11del (n.1194+11del)	ClinVar dbSNP
17	g.80108616G>A	CA8815200	GAA	c.1194+9G>A (n.1194+9G>A)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched