Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
16	g.2496524C>A	CA394375729	TBC1D24	c.376C>A (p.Pro126Thr) n.558C>A
16	g.2496524C=	CA2202259840	TBC1D24	c.376C= (p.Pro126=) n.558C=
16	g.2496524C>G	CA394375727	TBC1D24	c.376C>G (p.Pro126Ala) n.558C>G
16	g.2496524C>T	CA394375726	TBC1D24	c.376C>T (p.Pro126Ser) n.558C>T	ClinVar dbSNP gnomAD v2 gnomAD v4
16	g.2496525C>A	CA394375732	TBC1D24	c.377C>A (p.Pro126His) n.559C>A
16	g.2496525C>G	CA394375733	TBC1D24	c.377C>G (p.Pro126Arg) n.559C>G
16	g.2496525C>T	CA394375735	TBC1D24	c.377C>T (p.Pro126Leu) n.559C>T	COSMIC
16	g.2496526C>A	CA493366618	TBC1D24	c.378C>A (p.Pro126=) n.560C>A
16	g.2496526C=	CA2202259841	TBC1D24	c.378C= (p.Pro126=) n.560C=
16	g.2496526C>G	CA493366619	TBC1D24	c.378C>G (p.Pro126=) n.560C>G	dbSNP
16	g.2496526C>T	CA7843985	TBC1D24	c.378C>T (p.Pro126=) n.560C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.2496527G>A	CA319020	TBC1D24	c.379G>A (p.Asp127Asn) n.561G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16	g.2496527G>C	CA394375739	TBC1D24	c.379G>C (p.Asp127His) n.561G>C	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.2496527G=	CA2202259842	TBC1D24	c.379G= (p.Asp127=) n.561G=
16	g.2496527G>T	CA394375741	TBC1D24	c.379G>T (p.Asp127Tyr) n.561G>T
16	g.2496528A=	CA2202259843	TBC1D24	c.380A= (p.Asp127=) n.562A=
16	g.2496528A>C	CA394375742	TBC1D24	c.380A>C (p.Asp127Ala) n.562A>C
16	g.2496528A>G	CA394375744	TBC1D24	c.380A>G (p.Asp127Gly) n.562A>G	ClinVar dbSNP
16	g.2496528A>T	CA394375745	TBC1D24	c.380A>T (p.Asp127Val) n.562A>T
16	g.2496529C>A	CA394375747	TBC1D24	c.381C>A (p.Asp127Glu) n.563C>A	ClinVar dbSNP gnomAD v3 gnomAD v4
16	g.2496529C=	CA2202259844	TBC1D24	c.381C= (p.Asp127=) n.563C=
16	g.2496529C>G	CA394375748	TBC1D24	c.381C>G (p.Asp127Glu) n.563C>G
16	g.2496529C>T	CA493366623	TBC1D24	c.381C>T (p.Asp127=) n.563C>T	dbSNP gnomAD v2 gnomAD v4
16	g.2496530A>C	CA394375755	TBC1D24	c.382A>C (p.Ile128Leu) n.564A>C
16	g.2496530A>G	CA394375753	TBC1D24	c.382A>G (p.Ile128Val) n.564A>G
16	g.2496530A>T	CA394375751	TBC1D24	c.382A>T (p.Ile128Phe) n.564A>T
16	g.2496531T>A	CA394375757	TBC1D24	c.383T>A (p.Ile128Asn) n.565T>A
16	g.2496531T>C	CA394375759	TBC1D24	c.383T>C (p.Ile128Thr) n.565T>C
16	g.2496531T>G	CA394375760	TBC1D24	c.383T>G (p.Ile128Ser) n.565T>G
16	g.2496531_2496534delinsTCTC	CA2202259845	TBC1D24	c.383_386delinsTCTC (p.Ile128=) n.565_568delinsTCTC
16	g.2496532C>A	CA493366625	TBC1D24	c.384C>A (p.Ile128=) n.566C>A
16	g.2496532C=	CA2202259847	TBC1D24	c.384C= (p.Ile128=) n.566C=
16	g.2496532C>G	CA7843987	TBC1D24	c.384C>G (p.Ile128Met) n.566C>G	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.2496532C>T	CA7843986	TBC1D24	c.384C>T (p.Ile128=) n.566C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16	g.2496534_2496536del	CA2202259846	TBC1D24	c.386_388del (p.Ser129del) n.568_570del	dbSNP gnomAD v4
16	g.2496533T>A	CA394375763	TBC1D24	c.385T>A (p.Ser129Thr) n.567T>A
16	g.2496533T>C	CA394375765	TBC1D24	c.385T>C (p.Ser129Pro) n.567T>C
16	g.2496533T>G	CA394375767	TBC1D24	c.385T>G (p.Ser129Ala) n.567T>G
16	g.2496534C>A	CA394375769	TBC1D24	c.386C>A (p.Ser129Tyr) n.568C>A
16	g.2496534C=	CA2202259848	TBC1D24	c.386C= (p.Ser129=) n.568C=
16	g.2496534C>G	CA7843988	TBC1D24	c.386C>G (p.Ser129Cys) n.568C>G	dbSNP ExAC gnomAD v2 gnomAD v4
16	g.2496534C>T	CA394375772	TBC1D24	c.386C>T (p.Ser129Phe) n.568C>T	COSMIC
16	g.2496534_2496537delinsCCTT	CA2202259849	TBC1D24	c.386_389delinsCCTT (p.Ser129=) n.568_571delinsCCTT
16	g.2496535C>A	CA493366627	TBC1D24	c.387C>A (p.Ser129=) n.569C>A
16	g.2496535C=	CA2202259850	TBC1D24	c.387C= (p.Ser129=) n.569C=
16	g.2496535C>G	CA493366628	TBC1D24	c.387C>G (p.Ser129=) n.569C>G
16	g.2496535C>T	CA7843989	TBC1D24	c.387C>T (p.Ser129=) n.569C>T	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16	g.2496537_2496539del	CA719315782	TBC1D24	c.389_391del (p.Phe130del) n.571_573del	ClinVar dbSNP gnomAD v3 gnomAD v4
16	g.2496536T>A	CA394375778	TBC1D24	c.388T>A (p.Phe130Ile) n.570T>A
16	g.2496536T>C	CA394375779	TBC1D24	c.388T>C (p.Phe130Leu) n.570T>C

Number of alleles fetched