Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
16	g.2496269C>A	CA394374604	TBC1D24	c.121C>A (p.Gln41Lys) n.303C>A
16	g.2496269C=	CA2202259709	TBC1D24	c.121C= (p.Gln41=) n.303C=
16	g.2496269C>G	CA394374606	TBC1D24	c.121C>G (p.Gln41Glu) n.303C>G
16	g.2496269C>T	CA16608135	TBC1D24	c.121C>T (p.Gln41Ter) n.303C>T	ClinVar dbSNP
16	g.2496270A>C	CA394374609	TBC1D24	c.122A>C (p.Gln41Pro) n.304A>C
16	g.2496270A>G	CA394374610	TBC1D24	c.122A>G (p.Gln41Arg) n.304A>G
16	g.2496270A>T	CA394374612	TBC1D24	c.122A>T (p.Gln41Leu) n.304A>T
16	g.2496271G>A	CA493366534	TBC1D24	c.123G>A (p.Gln41=) n.305G>A
16	g.2496271G>C	CA394374614	TBC1D24	c.123G>C (p.Gln41His) n.305G>C
16	g.2496271G=	CA2202259710	TBC1D24	c.123G= (p.Gln41=) n.305G=
16	g.2496271G>T	CA7843927	TBC1D24	c.123G>T (p.Gln41His) n.305G>T	dbSNP ExAC gnomAD v2 gnomAD v4
16	g.2496272G>A	CA394374618	TBC1D24	c.124G>A (p.Gly42Ser) n.306G>A
16	g.2496272G>C	CA394374619	TBC1D24	c.124G>C (p.Gly42Arg) n.306G>C
16	g.2496272G>T	CA394374620	TBC1D24	c.124G>T (p.Gly42Cys) n.306G>T
16	g.2496273G>A	CA394374623	TBC1D24	c.125G>A (p.Gly42Asp) n.307G>A	gnomAD v4
16	g.2496273G>C	CA394374625	TBC1D24	c.125G>C (p.Gly42Ala) n.307G>C
16	g.2496273G>T	CA394374627	TBC1D24	c.125G>T (p.Gly42Val) n.307G>T
16	g.2496274C>A	CA493366536	TBC1D24	c.126C>A (p.Gly42=) n.308C>A
16	g.2496274C>G	CA493366537	TBC1D24	c.126C>G (p.Gly42=) n.308C>G
16	g.2496274C>T	CA493366535	TBC1D24	c.126C>T (p.Gly42=) n.308C>T
16	g.2496275T>A	CA394374632	TBC1D24	c.127T>A (p.Tyr43Asn) n.309T>A
16	g.2496275T>C	CA394374634	TBC1D24	c.127T>C (p.Tyr43His) n.309T>C
16	g.2496275T>G	CA394374630	TBC1D24	c.127T>G (p.Tyr43Asp) n.309T>G
16	g.2496276A>C	CA394374640	TBC1D24	c.128A>C (p.Tyr43Ser) n.310A>C	gnomAD v4
16	g.2496276A>G	CA394374636	TBC1D24	c.128A>G (p.Tyr43Cys) n.310A>G
16	g.2496276A>T	CA394374638	TBC1D24	c.128A>T (p.Tyr43Phe) n.310A>T
16	g.2496277C>A	CA394374642	TBC1D24	c.129C>A (p.Tyr43Ter) n.311C>A
16	g.2496277C>G	CA394374644	TBC1D24	c.129C>G (p.Tyr43Ter) n.311C>G
16	g.2496277C>T	CA493366538	TBC1D24	c.129C>T (p.Tyr43=) n.311C>T
16	g.2496278T>A	CA394374647	TBC1D24	c.130T>A (p.Trp44Arg) n.312T>A
16	g.2496278T>C	CA394374649	TBC1D24	c.130T>C (p.Trp44Arg) n.312T>C	ClinVar dbSNP
16	g.2496278T>G	CA394374651	TBC1D24	c.130T>G (p.Trp44Gly) n.312T>G
16	g.2496278T=	CA2202259711	TBC1D24	c.130T= (p.Trp44=) n.312T=
16	g.2496279G>A	CA394374654	TBC1D24	c.131G>A (p.Trp44Ter) n.313G>A	ClinVar dbSNP gnomAD v4
16	g.2496279G>C	CA394374655	TBC1D24	c.131G>C (p.Trp44Ser) n.313G>C
16	g.2496279G=	CA2202259712	TBC1D24	c.131G= (p.Trp44=) n.313G=
16	g.2496279G>T	CA394374657	TBC1D24	c.131G>T (p.Trp44Leu) n.313G>T
16	g.2496280G>A	CA7843928	TBC1D24	c.132G>A (p.Trp44Ter) n.314G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16	g.2496280G>C	CA394374659	TBC1D24	c.132G>C (p.Trp44Cys) n.314G>C	dbSNP
16	g.2496280G=	CA2202259713	TBC1D24	c.132G= (p.Trp44=) n.314G=
16	g.2496280G>T	CA394374661	TBC1D24	c.132G>T (p.Trp44Cys) n.314G>T
16	g.2496281G>A	CA394374666	TBC1D24	c.133G>A (p.Ala45Thr) n.315G>A
16	g.2496281G>C	CA394374664	TBC1D24	c.133G>C (p.Ala45Pro) n.315G>C
16	g.2496281G>T	CA394374662	TBC1D24	c.133G>T (p.Ala45Ser) n.315G>T	gnomAD v4
16	g.2496281_2496282delinsGC	CA2202259714	TBC1D24	c.133_134delinsGC (p.Ala45=) n.315_316delinsGC
16	g.2496282C>A	CA394374668	TBC1D24	c.134C>A (p.Ala45Asp) n.316C>A
16	g.2496282C=	CA2202259715	TBC1D24	c.134C= (p.Ala45=) n.316C=
16	g.2496282C>G	CA394374670	TBC1D24	c.134C>G (p.Ala45Gly) n.316C>G
16	g.2496282C>T	CA394374671	TBC1D24	c.134C>T (p.Ala45Val) n.316C>T	dbSNP
16	g.2496284del	CA719346151	TBC1D24	c.136del (p.Gln46LysfsTer13) c.136del (p.Gln46LysfsTer?) n.318del	dbSNP

Number of alleles fetched