Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
16	g.17138410_17138439dup	CA2580090800	XYLT1	c.1683_1712dup (p.Asp570_Trp571insCysLysCysGlnTyrLysHisIleValAsp) n.343_372dup n.315_344dup	ClinVar
16	g.17138434T>A	CA394875281	XYLT1	c.1685A>T (p.Lys562Met) n.367T>A n.339T>A
16	g.17138434T>C	CA7927820	XYLT1	c.1685A>G (p.Lys562Arg) n.367T>C n.339T>C	dbSNP ExAC gnomAD v2 gnomAD v4
16	g.17138434T>G	CA394875282	XYLT1	c.1685A>C (p.Lys562Thr) n.367T>G n.339T>G	dbSNP
16	g.17138434T=	CA2210541989	XYLT1	c.1685A= (p.Lys562=) n.367T= n.339T=
16	g.17138435T>A	CA394875283	XYLT1	c.1684A>T (p.Lys562Ter) n.368T>A n.340T>A
16	g.17138435T>C	CA394875284	XYLT1	c.1684A>G (p.Lys562Glu) n.368T>C n.340T>C
16	g.17138435T>G	CA394875285	XYLT1	c.1684A>C (p.Lys562Gln) n.368T>G n.340T>G
16	g.17138436G>A	CA7927821	XYLT1	c.1683C>T (p.Cys561=) n.369G>A n.341G>A	dbSNP ExAC gnomAD v2 gnomAD v4
16	g.17138436G>C	CA394875286	XYLT1	c.1683C>G (p.Cys561Trp) n.369G>C n.341G>C
16	g.17138436G=	CA2210541991	XYLT1	c.1683C= (p.Cys561=) n.369G= n.341G=
16	g.17138436G>T	CA394875287	XYLT1	c.1683C>A (p.Cys561Ter) n.369G>T n.341G>T
16	g.17138437C>A	CA394875290	XYLT1	c.1682G>T (p.Cys561Phe) n.370C>A n.342C>A
16	g.17138437C=	CA2210541995	XYLT1	c.1682G= (p.Cys561=) n.370C= n.342C=
16	g.17138437C>G	CA394875289	XYLT1	c.1682G>C (p.Cys561Ser) n.370C>G n.342C>G
16	g.17138437C>T	CA394875288	XYLT1	c.1682G>A (p.Cys561Tyr) n.370C>T n.342C>T	dbSNP
16	g.17138438A>C	CA394875291	XYLT1	c.1681T>G (p.Cys561Gly) n.371A>C n.343A>C	gnomAD v4
16	g.17138438A>G	CA394875292	XYLT1	c.1681T>C (p.Cys561Arg) n.371A>G n.343A>G
16	g.17138438A>T	CA394875293	XYLT1	c.1681T>A (p.Cys561Ser) n.371A>T n.343A>T
16	g.17138439G>A	CA493798097	XYLT1	c.1680C>T (p.Gly560=) n.372G>A n.344G>A
16	g.17138439G>C	CA493798099	XYLT1	c.1680C>G (p.Gly560=) n.372G>C n.344G>C
16	g.17138439G>T	CA493798100	XYLT1	c.1680C>A (p.Gly560=) n.372G>T n.344G>T
16	g.17138440C>A	CA394875294	XYLT1	c.1679G>T (p.Gly560Val) n.373C>A n.345C>A
16	g.17138440C>G	CA394875295	XYLT1	c.1679G>C (p.Gly560Ala) n.373C>G n.345C>G
16	g.17138440C>T	CA394875296	XYLT1	c.1679G>A (p.Gly560Asp) n.373C>T n.345C>T
16	g.17138441C>A	CA394875297	XYLT1	c.1678G>T (p.Gly560Cys) n.374C>A n.346C>A
16	g.17138441C>G	CA394875298	XYLT1	c.1678G>C (p.Gly560Arg) n.374C>G n.346C>G
16	g.17138441C>T	CA394875299	XYLT1	c.1678G>A (p.Gly560Ser) n.374C>T n.346C>T
16	g.17138442C>A	CA493798103	XYLT1	c.1677G>T (p.Leu559=) n.375C>A n.347C>A
16	g.17138442C=	CA2210541997	XYLT1	c.1677G= (p.Leu559=) n.375C= n.347C=
16	g.17138442C>G	CA493798105	XYLT1	c.1677G>C (p.Leu559=) n.375C>G n.347C>G
16	g.17138442C>T	CA278644513	XYLT1	c.1677G>A (p.Leu559=) n.375C>T n.347C>T	ClinVar dbSNP gnomAD v2 gnomAD v4
16	g.17138445_17138471del	CA2631987553	XYLT1	c.1651_1677del (p.Arg551_Leu559del) n.378_404del n.350_376del	gnomAD v4
16	g.17138443A>C	CA394875300	XYLT1	c.1676T>G (p.Leu559Arg) n.376A>C n.348A>C
16	g.17138443A>G	CA394875301	XYLT1	c.1676T>C (p.Leu559Pro) n.376A>G n.348A>G	gnomAD v4
16	g.17138443A>T	CA394875302	XYLT1	c.1676T>A (p.Leu559Gln) n.376A>T n.348A>T
16	g.17138444G>A	CA493798110	XYLT1	c.1675C>T (p.Leu559=) n.377G>A n.349G>A	gnomAD v4
16	g.17138444G>C	CA394875304	XYLT1	c.1675C>G (p.Leu559Val) n.377G>C n.349G>C
16	g.17138444G>T	CA394875303	XYLT1	c.1675C>A (p.Leu559Met) n.377G>T n.349G>T
16	g.17138445C>A	CA278644515	XYLT1	c.1674G>T (p.Lys558Asn) n.378C>A n.350C>A	dbSNP
16	g.17138445C=	CA2210541999	XYLT1	c.1674G= (p.Lys558=) n.378C= n.350C=
16	g.17138445C>G	CA394875305	XYLT1	c.1674G>C (p.Lys558Asn) n.378C>G n.350C>G
16	g.17138445C>T	CA493798113	XYLT1	c.1674G>A (p.Lys558=) n.378C>T n.350C>T	gnomAD v4
16	g.17138446T>A	CA394875306	XYLT1	c.1673A>T (p.Lys558Met) n.379T>A n.351T>A
16	g.17138446T>C	CA394875307	XYLT1	c.1673A>G (p.Lys558Arg) n.379T>C n.351T>C
16	g.17138446T>G	CA394875308	XYLT1	c.1673A>C (p.Lys558Thr) n.379T>G n.351T>G
16	g.17138447T>A	CA394875309	XYLT1	c.1672A>T (p.Lys558Ter) n.380T>A n.352T>A
16	g.17138447T>C	CA278644517	XYLT1	c.1672A>G (p.Lys558Glu) n.380T>C n.352T>C	dbSNP
16	g.17138447T>G	CA394875310	XYLT1	c.1672A>C (p.Lys558Gln) n.380T>G n.352T>G
16	g.17138447T=	CA2210542003	XYLT1	c.1672A= (p.Lys558=) n.380T= n.352T=

Number of alleles fetched