Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.41755726_41755736del	CA2637857939	JUP	c.14_24del (n.14_24del) c.14_14+10del	gnomAD v4
17	g.41755734dup	CA2637857965	JUP	c.13dup (n.13dup)	gnomAD v4
17	g.41755734del	CA2637857966	JUP	c.13del (n.13del)	gnomAD v4
17	g.41755733G>A	CA8564980	JUP	c.11C>T (n.11C>T)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.41755733G=	CA2260169415	JUP	c.11C= (n.11C=)
17	g.41755733_41755734insT	CA2637857970	JUP	c.10_11insA (n.10_11insA)	gnomAD v4
17	g.41755734G>A	CA2637857972	JUP	c.10C>T (n.10C>T)	gnomAD v4
17	g.41755734G>T	CA2637857973	JUP	c.10C>A (n.10C>A)	gnomAD v4
17	g.41755735_41755738del	CA2637857971	JUP	c.7_10del (n.7_10del)	gnomAD v4
17	g.41755735C>A	CA626025193	JUP	c.9G>T (n.9G>T)	dbSNP gnomAD v2 gnomAD v4
17	g.41755735C=	CA2260169416	JUP	c.9G= (n.9G=)
17	g.41755735C>T	CA2637857976	JUP	c.9G>A (n.9G>A)	gnomAD v4
17	g.41755736C=	CA2260169417	JUP	c.8G= (n.8G=)
17	g.41755736C>T	CA626025194	JUP	c.8G>A (n.8G>A)	dbSNP gnomAD v2 gnomAD v4
17	g.41755736_41755737insG	CA2637857979	JUP	c.7_8insC (n.7_8insC)	gnomAD v4
17	g.41755737A>T	CA2637857978	JUP	c.7T>A (n.7T>A)	gnomAD v4
17	g.41755737_41755738insT	CA2637857980	JUP	c.6_7insA (n.6_7insA)	gnomAD v4
17	g.41755738G>A	CA626025195	JUP	c.6C>T (n.6C>T)	dbSNP gnomAD v2
17	g.41755738G>C	CA983779618	JUP	c.6C>G (n.6C>G)	dbSNP gnomAD v3 gnomAD v4
17	g.41755738G=	CA2260169418	JUP	c.6C= (n.6C=)
17	g.41755738G>T	CA2637857981	JUP	c.6C>A (n.6C>A)	gnomAD v4
17	g.41755739G>A	CA2637857982	JUP	c.5C>T (n.5C>T)	gnomAD v4
17	g.41755739G>T	CA2637857984	JUP	c.5C>A (n.5C>A)	gnomAD v4
17	g.41755740C>A	CA2637857986	JUP	c.4G>T (n.4G>T)	gnomAD v4
17	g.41755740C>T	CA2637857987	JUP	c.4G>A (n.4G>A)	gnomAD v4
17	g.41755740_41755741insTCA	CA2637857989	JUP	c.3_4insTGA (n.3_4insTGA)	gnomAD v4
17	g.41755740_41755741insTGGGTGCCGTGGCTCA	CA2637857990	JUP	c.3_4insTGAGCCACGGCACCCA (n.3_4insTGAGCCACGGCACCCA)	gnomAD v4
17	g.41755741C>A	CA2593969236	JUP	c.3G>T (n.3G>T)	dbSNP gnomAD v3 gnomAD v4
17	g.41755741C=	CA2260169419	JUP	c.3G= (n.3G=)
17	g.41755741C>T	CA291695	JUP	c.3G>A (n.3G>A)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.41755742G>A	CA176373	JUP	c.2C>T (n.2C>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.41755742G=	CA2260169420	JUP	c.2C= (n.2C=)
17	g.41755743C>T	CA2637857992	JUP	c.1G>A (n.1G>A)	gnomAD v4
17	g.41755744C>A	CA399490179	JUP	c.2238G>T (p.Ter746Tyr) c.2289G>T (p.Ter763Tyr)
17	g.41755744C>G	CA399490177	JUP	c.2238G>C (p.Ter746Tyr) c.2289G>C (p.Ter763Tyr)
17	g.41755744C>T	CA500019484	JUP	c.2238G>A (p.Ter746=) c.2289G>A (p.Ter763=)	ClinVar
17	g.41755745T>A	CA399490181	JUP	c.2237A>T (p.Ter746Leu) c.2288A>T (p.Ter763Leu)
17	g.41755745T>C	CA399490183	JUP	c.2237A>G (p.Ter746Trp) c.2288A>G (p.Ter763Trp)
17	g.41755745T>G	CA399490184	JUP	c.2237A>C (p.Ter746Ser) c.2288A>C (p.Ter763Ser)
17	g.41755746A>C	CA399490186	JUP	c.2236T>G (p.Ter746Glu) c.2287T>G (p.Ter763Glu)
17	g.41755746A>G	CA399490187	JUP	c.2236T>C (p.Ter746Gln) c.2287T>C (p.Ter763Gln)
17	g.41755746A>T	CA399490188	JUP	c.2236T>A (p.Ter746Lys) c.2287T>A (p.Ter763Lys)	COSMIC
17	g.41755747G>A	CA500019491	JUP	c.2235C>T (p.Ala745=) c.2286C>T (p.Ala762=)
17	g.41755747G>C	CA500019494	JUP	c.2235C>G (p.Ala745=) c.2286C>G (p.Ala762=)
17	g.41755747G>T	CA500019496	JUP	c.2235C>A (p.Ala745=) c.2286C>A (p.Ala762=)	gnomAD v4
17	g.41755748G>A	CA399490189	JUP	c.2234C>T (p.Ala745Val) c.2285C>T (p.Ala762Val)
17	g.41755748G>C	CA399490190	JUP	c.2234C>G (p.Ala745Gly) c.2285C>G (p.Ala762Gly)	dbSNP gnomAD v3 gnomAD v4
17	g.41755748G=	CA2260169421	JUP	c.2234C= (p.Ala745=) c.2285C= (p.Ala762=)
17	g.41755748G>T	CA399490191	JUP	c.2234C>A (p.Ala745Asp) c.2285C>A (p.Ala762Asp)
17	g.41755749C>A	CA399490192	JUP	c.2233G>T (p.Ala745Ser) c.2284G>T (p.Ala762Ser)	gnomAD v4

Number of alleles fetched