Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.7445131del	CA2635846466	CHRNB1	c.4del (p.Thr2ProfsTer6) n.24del	gnomAD v4
17	g.7445131A>C	CA397786103	CHRNB1	c.4A>C (p.Thr2Pro) n.24A>C
17	g.7445131A>G	CA397786109	CHRNB1	c.4A>G (p.Thr2Ala) n.24A>G
17	g.7445131A>T	CA397786106	CHRNB1	c.4A>T (p.Thr2Ser) n.24A>T
17	g.7445132C>A	CA397786112	CHRNB1	c.5C>A (p.Thr2Asn) n.25C>A
17	g.7445132C=	CA2245842141	CHRNB1	c.5C= (p.Thr2=) n.25C=
17	g.7445132C>G	CA397786115	CHRNB1	c.5C>G (p.Thr2Ser) n.25C>G
17	g.7445132C>T	CA8347593	CHRNB1	c.5C>T (p.Thr2Ile) n.25C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.7445135del	CA2635846467	CHRNB1	c.8del (p.Pro3GlnfsTer5) n.28del	gnomAD v4
17	g.7445133C>A	CA497740255	CHRNB1	c.6C>A (p.Thr2=) n.26C>A
17	g.7445133C=	CA2245842143	CHRNB1	c.6C= (p.Thr2=) n.26C=
17	g.7445133C>G	CA497740257	CHRNB1	c.6C>G (p.Thr2=) n.26C>G
17	g.7445133C>T	CA8347594	CHRNB1	c.6C>T (p.Thr2=) n.26C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.7445134C>A	CA397786125	CHRNB1	c.7C>A (p.Pro3Thr) n.27C>A
17	g.7445134C>G	CA397786128	CHRNB1	c.7C>G (p.Pro3Ala) n.27C>G
17	g.7445134C>T	CA397786130	CHRNB1	c.7C>T (p.Pro3Ser) n.27C>T
17	g.7445135C>A	CA397786134	CHRNB1	c.8C>A (p.Pro3Gln) n.28C>A
17	g.7445135C>G	CA397786136	CHRNB1	c.8C>G (p.Pro3Arg) n.28C>G
17	g.7445135C>T	CA397786140	CHRNB1	c.8C>T (p.Pro3Leu) n.28C>T	gnomAD v4
17	g.7445136A=	CA2245842146	CHRNB1	c.9A= (p.Pro3=) n.29A=
17	g.7445136A>C	CA497740270	CHRNB1	c.9A>C (p.Pro3=) n.29A>C	gnomAD v4
17	g.7445136A>G	CA497740266	CHRNB1	c.9A>G (p.Pro3=) n.29A>G	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.7445136A>T	CA497740268	CHRNB1	c.9A>T (p.Pro3=) n.29A>T
17	g.7445137G>A	CA397786143	CHRNB1	c.10G>A (p.Gly4Arg) n.30G>A	gnomAD v4
17	g.7445137G>C	CA397786145	CHRNB1	c.10G>C (p.Gly4Arg) n.30G>C
17	g.7445137G>T	CA397786149	CHRNB1	c.10G>T (p.Gly4Trp) n.30G>T
17	g.7445140del	CA2576152286	CHRNB1	c.13del (p.Ala5LeufsTer3) n.33del
17	g.7445138G>A	CA397786160	CHRNB1	c.11G>A (p.Gly4Glu) n.31G>A	dbSNP
17	g.7445138G>C	CA397786167	CHRNB1	c.11G>C (p.Gly4Ala) n.31G>C
17	g.7445138G=	CA2245842148	CHRNB1	c.11G= (p.Gly4=) n.31G=
17	g.7445138G>T	CA397786163	CHRNB1	c.11G>T (p.Gly4Val) n.31G>T
17	g.7445139G>A	CA497740278	CHRNB1	c.12G>A (p.Gly4=) n.32G>A	dbSNP gnomAD v4
17	g.7445139G>C	CA497740281	CHRNB1	c.12G>C (p.Gly4=) n.32G>C
17	g.7445139G=	CA2245842150	CHRNB1	c.12G= (p.Gly4=) n.32G=
17	g.7445139G>T	CA497740283	CHRNB1	c.12G>T (p.Gly4=) n.32G>T
17	g.7445139_7445141del	CA2635846468	CHRNB1	c.12_14del (p.Ala5del) n.32_34del	gnomAD v4
17	g.7445140G>A	CA8347595	CHRNB1	c.13G>A (p.Ala5Thr) n.33G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.7445140G>C	CA397786169	CHRNB1	c.13G>C (p.Ala5Pro) n.33G>C
17	g.7445140G=	CA2245842269	CHRNB1	c.13G= (p.Ala5=) n.33G=
17	g.7445140G>T	CA397786170	CHRNB1	c.13G>T (p.Ala5Ser) n.33G>T	gnomAD v4
17	g.7445141C>A	CA397786173	CHRNB1	c.14C>A (p.Ala5Asp) n.34C>A
17	g.7445141C>G	CA397786175	CHRNB1	c.14C>G (p.Ala5Gly) n.34C>G
17	g.7445141C>T	CA397786177	CHRNB1	c.14C>T (p.Ala5Val) n.34C>T
17	g.7445142T>A	CA497740293	CHRNB1	c.15T>A (p.Ala5=) n.35T>A
17	g.7445142T>C	CA497740298	CHRNB1	c.15T>C (p.Ala5=) n.35T>C
17	g.7445142T>G	CA497740296	CHRNB1	c.15T>G (p.Ala5=) n.35T>G
17	g.7445143C>A	CA397786181	CHRNB1	c.16C>A (p.Leu6Met) n.36C>A	gnomAD v4
17	g.7445143C>G	CA397786182	CHRNB1	c.16C>G (p.Leu6Val) n.36C>G
17	g.7445143C>T	CA497740302	CHRNB1	c.16C>T (p.Leu6=) n.36C>T	gnomAD v4
17	g.7445144T>A	CA397786183	CHRNB1	c.17T>A (p.Leu6Gln) n.37T>A

Number of alleles fetched