Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.27084912_27084914dup	CA2658282953	EMILIN1	c.2558-79_2558-77dup (n.2558-79_2558-77dup) c.550-79_550-77dup	gnomAD v4
2	g.27084913A=	CA1240109533	EMILIN1	c.2558-78A= (n.2558-78A=) c.550-78A=
2	g.27084913A>C	CA1028653084	EMILIN1	c.2558-78A>C (n.2558-78A>C) c.550-78A>C	dbSNP gnomAD v3 gnomAD v4
2	g.27084914G>A	CA531422395	EMILIN1	c.2558-77G>A (n.2558-77G>A) c.550-77G>A	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.27084914G=	CA1240109534	EMILIN1	c.2558-77G= (n.2558-77G=) c.550-77G=
2	g.27084914G>T	CA2576702665	EMILIN1	c.2558-77G>T (n.2558-77G>T) c.550-77G>T	gnomAD v4
2	g.27084916G>A	CA2658282974	EMILIN1	c.2558-75G>A (n.2558-75G>A) c.550-75G>A	gnomAD v4
2	g.27084916G>T	CA2658282975	EMILIN1	c.2558-75G>T (n.2558-75G>T) c.550-75G>T	gnomAD v4
2	g.27084917C>A	CA2576702666	EMILIN1	c.2558-74C>A (n.2558-74C>A) c.550-74C>A	gnomAD v4
2	g.27084918C>A	CA2658282980	EMILIN1	c.2558-73C>A (n.2558-73C>A) c.550-73C>A	gnomAD v4
2	g.27084919T>C	CA2576702667	EMILIN1	c.2558-72T>C (n.2558-72T>C) c.550-72T>C	gnomAD v4
2	g.27084919_27084922delinsTCAG	CA1240109535	EMILIN1	c.2558-72_2558-69delinsTCAG (n.2558-72_2558-69delinsTCAG) c.550-72_550-69delinsTCAG
2	g.27084920C>A	CA2658282988	EMILIN1	c.2558-71C>A (n.2558-71C>A) c.550-71C>A	gnomAD v4
2	g.27084923_27084925del	CA1028653100	EMILIN1	c.2558-68_2558-66del (n.2558-68_2558-66del) c.550-68_550-66del	dbSNP gnomAD v3 gnomAD v4
2	g.27084921A=	CA1240109536	EMILIN1	c.2558-70A= (n.2558-70A=) c.550-70A=
2	g.27084921A>C	CA44468530	EMILIN1	c.2558-70A>C (n.2558-70A>C) c.550-70A>C	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.27084922G>A	CA1240109538	EMILIN1	c.2558-69G>A (n.2558-69G>A) c.550-69G>A	dbSNP
2	g.27084922G=	CA1240109537	EMILIN1	c.2558-69G= (n.2558-69G=) c.550-69G=
2	g.27084923C>A	CA2576702668	EMILIN1	c.2558-68C>A (n.2558-68C>A) c.550-68C>A	gnomAD v4
2	g.27084924A=	CA1240109539	EMILIN1	c.2558-67A= (n.2558-67A=) c.550-67A=
2	g.27084924A>G	CA1240109540	EMILIN1	c.2558-67A>G (n.2558-67A>G) c.550-67A>G	dbSNP
2	g.27084925G>C	CA767343487	EMILIN1	c.2558-66G>C (n.2558-66G>C) c.550-66G>C	dbSNP gnomAD v4
2	g.27084925G=	CA1240109541	EMILIN1	c.2558-66G= (n.2558-66G=) c.550-66G=
2	g.27084926A=	CA1240109542	EMILIN1	c.2558-65A= (n.2558-65A=) c.550-65A=
2	g.27084926A>G	CA2749254981	EMILIN1	c.2558-65A>G (n.2558-65A>G) c.550-65A>G
2	g.27084926A>T	CA1240109543	EMILIN1	c.2558-65A>T (n.2558-65A>T) c.550-65A>T	dbSNP
2	g.27084927T>A	CA767343488	EMILIN1	c.2558-64T>A (n.2558-64T>A) c.550-64T>A	dbSNP gnomAD v3 gnomAD v4
2	g.27084927T>C	CA2658283001	EMILIN1	c.2558-64T>C (n.2558-64T>C) c.550-64T>C	gnomAD v4
2	g.27084927T>G	CA2658283003	EMILIN1	c.2558-64T>G (n.2558-64T>G) c.550-64T>G	gnomAD v4
2	g.27084927T=	CA1240109544	EMILIN1	c.2558-64T= (n.2558-64T=) c.550-64T=
2	g.27084928G>A	CA2658283007	EMILIN1	c.2558-63G>A (n.2558-63G>A) c.550-63G>A	gnomAD v4
2	g.27084929T>G	CA2658283010	EMILIN1	c.2558-62T>G (n.2558-62T>G) c.550-62T>G	gnomAD v4
2	g.27084930T>C	CA1240109546	EMILIN1	c.2558-61T>C (n.2558-61T>C) c.550-61T>C	dbSNP gnomAD v4
2	g.27084930T=	CA1240109545	EMILIN1	c.2558-61T= (n.2558-61T=) c.550-61T=
2	g.27084932G>A	CA2658283017	EMILIN1	c.2558-59G>A (n.2558-59G>A) c.550-59G>A	gnomAD v4
2	g.27084933C>A	CA2658283023	EMILIN1	c.2558-58C>A (n.2558-58C>A) c.550-58C>A	gnomAD v4
2	g.27084933C>T	CA2658283024	EMILIN1	c.2558-58C>T (n.2558-58C>T) c.550-58C>T	gnomAD v4
2	g.27084934T>C	CA2576702669	EMILIN1	c.2558-57T>C (n.2558-57T>C) c.550-57T>C	gnomAD v4
2	g.27084935G>A	CA2658283030	EMILIN1	c.2558-56G>A (n.2558-56G>A) c.550-56G>A	gnomAD v4
2	g.27084936A=	CA1240109547	EMILIN1	c.2558-55A= (n.2558-55A=) c.550-55A=
2	g.27084936A>C	CA767343489	EMILIN1	c.2558-55A>C (n.2558-55A>C) c.550-55A>C	dbSNP
2	g.27084936A>G	CA2658283039	EMILIN1	c.2558-55A>G (n.2558-55A>G) c.550-55A>G	gnomAD v4
2	g.27084936A>T	CA2658283040	EMILIN1	c.2558-55A>T (n.2558-55A>T) c.550-55A>T	gnomAD v4
2	g.27084937G>A	CA767343491	EMILIN1	c.2558-54G>A (n.2558-54G>A) c.550-54G>A	dbSNP gnomAD v3 gnomAD v4
2	g.27084937G=	CA1240109548	EMILIN1	c.2558-54G= (n.2558-54G=) c.550-54G=
2	g.27084939G>A	CA2658283047	EMILIN1	c.2558-52G>A (n.2558-52G>A) c.550-52G>A	gnomAD v4
2	g.27084939G=	CA1240109549	EMILIN1	c.2558-52G= (n.2558-52G=) c.550-52G=
2	g.27084939G>T	CA531422397	EMILIN1	c.2558-52G>T (n.2558-52G>T) c.550-52G>T	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.27084940A>G	CA2658283052	EMILIN1	c.2558-51A>G (n.2558-51A>G) c.550-51A>G	gnomAD v4
2	g.27084941C>A	CA2658283054	EMILIN1	c.2558-50C>A (n.2558-50C>A) c.550-50C>A	gnomAD v4
2	g.27084941C=	CA1240109550	EMILIN1	c.2558-50C= (n.2558-50C=) c.550-50C=
2	g.27084941C>G	CA2658283058	EMILIN1	c.2558-50C>G (n.2558-50C>G) c.550-50C>G	gnomAD v4
2	g.27084941C>T	CA767343495	EMILIN1	c.2558-50C>T (n.2558-50C>T) c.550-50C>T	dbSNP gnomAD v3 gnomAD v4
2	g.27084942T>G	CA1568956	EMILIN1	c.2558-49T>G (n.2558-49T>G) c.550-49T>G	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.27084942T=	CA1240109551	EMILIN1	c.2558-49T= (n.2558-49T=) c.550-49T=
2	g.27084943_27084947delinsTAGTG	CA1240109552	EMILIN1	c.2558-48_2558-44delinsTAGTG (n.2558-48_2558-44delinsTAGTG) c.550-48_550-44delinsTAGTG
2	g.27084944del	CA2576702670	EMILIN1	c.2558-47del (n.2558-47del) c.550-47del
2	g.27084944A=	CA1240109553	EMILIN1	c.2558-47A= (n.2558-47A=) c.550-47A=
2	g.27084944A>C	CA767343505	EMILIN1	c.2558-47A>C (n.2558-47A>C) c.550-47A>C	dbSNP gnomAD v3 gnomAD v4
2	g.27084944A>G	CA1240109554	EMILIN1	c.2558-47A>G (n.2558-47A>G) c.550-47A>G	dbSNP gnomAD v4
2	g.27084946_27084949del	CA1568957	EMILIN1	c.2558-45_2558-42del (n.2558-45_2558-42del) c.550-45_550-42del	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.27084945G>A	CA44468531	EMILIN1	c.2558-46G>A (n.2558-46G>A) c.550-46G>A	dbSNP gnomAD v2 gnomAD v4
2	g.27084945G=	CA1240109555	EMILIN1	c.2558-46G= (n.2558-46G=) c.550-46G=
2	g.27084946T>C	CA531422399	EMILIN1	c.2558-45T>C (n.2558-45T>C) c.550-45T>C	dbSNP gnomAD v2 gnomAD v4
2	g.27084946T>G	CA2658283131	EMILIN1	c.2558-45T>G (n.2558-45T>G) c.550-45T>G	gnomAD v4
2	g.27084946T=	CA1240109556	EMILIN1	c.2558-45T= (n.2558-45T=) c.550-45T=
2	g.27084947del	CA2576702671	EMILIN1	c.2558-44del (n.2558-44del) c.550-44del
2	g.27084947G>A	CA1568958	EMILIN1	c.2558-44G>A (n.2558-44G>A) c.550-44G>A	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.27084947G=	CA1240109557	EMILIN1	c.2558-44G= (n.2558-44G=) c.550-44G=
2	g.27084950_27084951del	CA2658283136	EMILIN1	c.2558-41_2558-40del (n.2558-41_2558-40del) c.550-41_550-40del	gnomAD v4
2	g.27084948_27084962delinsAGAGCTGCTTTATTT	CA1240109558	EMILIN1	c.2558-43_2558-29delinsAGAGCTGCTTTATTT (n.2558-43_2558-29delinsAGAGCTGCTTTATTT) c.550-43_550-29delinsAGAGCTGCTTTATTT
2	g.27084949_27084962del	CA531422400	EMILIN1	c.2558-42_2558-29del (n.2558-42_2558-29del) c.550-42_550-29del	dbSNP gnomAD v2 gnomAD v4
2	g.27084952C>A	CA2658283153	EMILIN1	c.2558-39C>A (n.2558-39C>A) c.550-39C>A	gnomAD v4
2	g.27084952C=	CA1240109559	EMILIN1	c.2558-39C= (n.2558-39C=) c.550-39C=
2	g.27084952C>G	CA2658283150	EMILIN1	c.2558-39C>G (n.2558-39C>G) c.550-39C>G	gnomAD v4
2	g.27084952C>T	CA1240109560	EMILIN1	c.2558-39C>T (n.2558-39C>T) c.550-39C>T	dbSNP gnomAD v4
2	g.27084953T>G	CA2576702672	EMILIN1	c.2558-38T>G (n.2558-38T>G) c.550-38T>G
2	g.27084955C=	CA1240109562	EMILIN1	c.2558-36C= (n.2558-36C=) c.550-36C=
2	g.27084955C>G	CA1240109561	EMILIN1	c.2558-36C>G (n.2558-36C>G) c.550-36C>G	dbSNP
2	g.27084955C>T	CA1568959	EMILIN1	c.2558-36C>T (n.2558-36C>T) c.550-36C>T	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.27084956T>C	CA44468534	EMILIN1	c.2558-35T>C (n.2558-35T>C) c.550-35T>C	dbSNP
2	g.27084956T=	CA1240109563	EMILIN1	c.2558-35T= (n.2558-35T=) c.550-35T=
2	g.27084959_27084962del	CA2658283163	EMILIN1	c.2558-32_2558-29del (n.2558-32_2558-29del) c.550-32_550-29del	gnomAD v4
2	g.27084957T>G	CA767343517	EMILIN1	c.2558-34T>G (n.2558-34T>G) c.550-34T>G	dbSNP gnomAD v4
2	g.27084957T=	CA1240109564	EMILIN1	c.2558-34T= (n.2558-34T=) c.550-34T=
2	g.27084963C>A	CA44468535	EMILIN1	c.2558-28C>A (n.2558-28C>A) c.550-28C>A	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.27084963C=	CA1240109565	EMILIN1	c.2558-28C= (n.2558-28C=) c.550-28C=
2	g.27084963C>G	CA1240109566	EMILIN1	c.2558-28C>G (n.2558-28C>G) c.550-28C>G	dbSNP
2	g.27084964T>C	CA1568960	EMILIN1	c.2558-27T>C (n.2558-27T>C) c.550-27T>C	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.27084964T=	CA1240109567	EMILIN1	c.2558-27T= (n.2558-27T=) c.550-27T=
2	g.27084965C=	CA1240109568	EMILIN1	c.2558-26C= (n.2558-26C=) c.550-26C=
2	g.27084965C>G	CA1240109569	EMILIN1	c.2558-26C>G (n.2558-26C>G) c.550-26C>G	dbSNP
2	g.27084965C>T	CA1568961	EMILIN1	c.2558-26C>T (n.2558-26C>T) c.550-26C>T	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.27084966A=	CA1240109570	EMILIN1	c.2558-25A= (n.2558-25A=) c.550-25A=
2	g.27084966A>G	CA1028653106	EMILIN1	c.2558-25A>G (n.2558-25A>G) c.550-25A>G	dbSNP
2	g.27084967C>A	CA1568962	EMILIN1	c.2558-24C>A (n.2558-24C>A) c.550-24C>A	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.27084967C=	CA1240109571	EMILIN1	c.2558-24C= (n.2558-24C=) c.550-24C=
2	g.27084969G>A	CA1568963	EMILIN1	c.2558-22G>A (n.2558-22G>A) c.550-22G>A	dbSNP ExAC gnomAD v2
2	g.27084969G=	CA1240109572	EMILIN1	c.2558-22G= (n.2558-22G=) c.550-22G=
2	g.27084972C=	CA1240109573	EMILIN1	c.2558-19C= (n.2558-19C=) c.550-19C=
2	g.27084972_27084973insA	CA1568964	EMILIN1	c.2558-19_2558-18insA (n.2558-19_2558-18insA) c.550-19_550-18insA	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.27084973C>T	CA2658283217	EMILIN1	c.2558-18C>T (n.2558-18C>T) c.550-18C>T	gnomAD v4
2	g.27084974C=	CA1240109574	EMILIN1	c.2558-17C= (n.2558-17C=) c.550-17C=
2	g.27084974C>G	CA1568965	EMILIN1	c.2558-17C>G (n.2558-17C>G) c.550-17C>G	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.27084975T>C	CA531422405	EMILIN1	c.2558-16T>C (n.2558-16T>C) c.550-16T>C	dbSNP gnomAD v2 gnomAD v4
2	g.27084975T=	CA1240109575	EMILIN1	c.2558-16T= (n.2558-16T=) c.550-16T=
2	g.27084976T>C	CA2658283230	EMILIN1	c.2558-15T>C (n.2558-15T>C) c.550-15T>C	gnomAD v4
2	g.27084978C>T	CA2658283236	EMILIN1	c.2558-13C>T (n.2558-13C>T) c.550-13C>T	gnomAD v4
2	g.27084979C=	CA1240109576	EMILIN1	c.2558-12C= (n.2558-12C=) c.550-12C=
2	g.27084979C>G	CA44468536	EMILIN1	c.2558-12C>G (n.2558-12C>G) c.550-12C>G	dbSNP
2	g.27084980T>C	CA2658283238	EMILIN1	c.2558-11T>C (n.2558-11T>C) c.550-11T>C	gnomAD v4
2	g.27084981C=	CA1240109577	EMILIN1	c.2558-10C= (n.2558-10C=) c.550-10C=
2	g.27084981C>T	CA531422406	EMILIN1	c.2558-10C>T (n.2558-10C>T) c.550-10C>T	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.27084982T>C	CA1568966	EMILIN1	c.2558-9T>C (n.2558-9T>C) c.550-9T>C	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.27084982T=	CA1240109578	EMILIN1	c.2558-9T= (n.2558-9T=) c.550-9T=
2	g.27084983_27084986delinsTCTC	CA1240109579	EMILIN1	c.2558-8_2558-5delinsTCTC (n.2558-8_2558-5delinsTCTC) c.550-8_550-5delinsTCTC
2	g.27084984_27084986del	CA531422408	EMILIN1	c.2558-7_2558-5del (n.2558-7_2558-5del) c.550-7_550-5del	dbSNP gnomAD v2 gnomAD v4
2	g.27084985T>G	CA2658283260	EMILIN1	c.2558-6T>G (n.2558-6T>G) c.550-6T>G	gnomAD v4
2	g.27084989A=	CA1240109580	EMILIN1	c.2558-2A= (n.2558-2A=) c.550-2A=
2	g.27084989A>C	CA346155864	EMILIN1	c.2558-2A>C (n.2558-2A>C) c.550-2A>C
2	g.27084989A>G	CA346155865	EMILIN1	c.2558-2A>G (n.2558-2A>G) c.550-2A>G	dbSNP gnomAD v2 gnomAD v4
2	g.27084989A>T	CA346155866	EMILIN1	c.2558-2A>T (n.2558-2A>T) c.550-2A>T
2	g.27084990G>A	CA346155867	EMILIN1	c.2558-1G>A (n.2558-1G>A) c.550-1G>A	dbSNP gnomAD v2
2	g.27084990G>C	CA346155869	EMILIN1	c.2558-1G>C (n.2558-1G>C) c.550-1G>C
2	g.27084990G=	CA1240109581	EMILIN1	c.2558-1G= (n.2558-1G=) c.550-1G=
2	g.27084990G>T	CA346155868	EMILIN1	c.2558-1G>T (n.2558-1G>T) c.550-1G>T
2	g.27084991G>A	CA346155870	EMILIN1	c.2558G>A (p.Gly853Asp) c.550G>A
2	g.27084991G>C	CA346155872	EMILIN1	c.2558G>C (p.Gly853Ala) c.550G>C
2	g.27084991G>T	CA346155871	EMILIN1	c.2558G>T (p.Gly853Val) c.550G>T
2	g.27084992T>A	CA425382024	EMILIN1	c.2559T>A (p.Gly853=) c.551T>A
2	g.27084992T>C	CA425382026	EMILIN1	c.2559T>C (p.Gly853=) c.551T>C
2	g.27084992T>G	CA425382028	EMILIN1	c.2559T>G (p.Gly853=) c.551T>G
2	g.27084994_27084996del	CA2658283276	EMILIN1	c.2561_2563del (p.Pro854del) c.553_555del	gnomAD v4
2	g.27084993C>A	CA346155874	EMILIN1	c.2560C>A (p.Pro854Thr) c.552C>A
2	g.27084993C=	CA1240109582	EMILIN1	c.2560C= (p.Pro854=) c.552C=
2	g.27084993C>G	CA346155875	EMILIN1	c.2560C>G (p.Pro854Ala) c.552C>G
2	g.27084993C>T	CA346155877	EMILIN1	c.2560C>T (p.Pro854Ser) c.552C>T	dbSNP gnomAD v4
2	g.27084994C>A	CA346155880	EMILIN1	c.2561C>A (p.Pro854His) c.553C>A
2	g.27084994C>G	CA346155881	EMILIN1	c.2561C>G (p.Pro854Arg) c.553C>G	gnomAD v4
2	g.27084994C>T	CA346155883	EMILIN1	c.2561C>T (p.Pro854Leu) c.553C>T
2	g.27084995T>A	CA425382032	EMILIN1	c.2562T>A (p.Pro854=) c.554T>A
2	g.27084995T>C	CA425382034	EMILIN1	c.2562T>C (p.Pro854=) c.554T>C
2	g.27084995T>G	CA425382033	EMILIN1	c.2562T>G (p.Pro854=) c.554T>G
2	g.27084996C>A	CA346155885	EMILIN1	c.2563C>A (p.Gln855Lys) c.555C>A
2	g.27084996C>G	CA346155886	EMILIN1	c.2563C>G (p.Gln855Glu) c.555C>G
2	g.27084996C>T	CA346155888	EMILIN1	c.2563C>T (p.Gln855Ter) c.555C>T
2	g.27084997A=	CA1240109583	EMILIN1	c.2564A= (p.Gln855=) c.556A=
2	g.27084997A>C	CA346155891	EMILIN1	c.2564A>C (p.Gln855Pro) c.556A>C	dbSNP gnomAD v3 gnomAD v4
2	g.27084997A>G	CA346155893	EMILIN1	c.2564A>G (p.Gln855Arg) c.556A>G
2	g.27084997A>T	CA346155894	EMILIN1	c.2564A>T (p.Gln855Leu) c.556A>T
2	g.27084998A=	CA1240109584	EMILIN1	c.2565A= (p.Gln855=) c.557A=
2	g.27084998A>C	CA346155896	EMILIN1	c.2565A>C (p.Gln855His) c.557A>C
2	g.27084998A>G	CA1568967	EMILIN1	c.2565A>G (p.Gln855=) c.557A>G	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.27084998A>T	CA346155898	EMILIN1	c.2565A>T (p.Gln855His) c.557A>T
2	g.27084999G>A	CA346155900	EMILIN1	c.2566G>A (p.Gly856Ser) c.558G>A	COSMIC
2	g.27084999G>C	CA346155902	EMILIN1	c.2566G>C (p.Gly856Arg) c.558G>C	gnomAD v4
2	g.27084999G>T	CA346155904	EMILIN1	c.2566G>T (p.Gly856Cys) c.558G>T
2	g.27085000G>A	CA346155906	EMILIN1	c.2567G>A (p.Gly856Asp) c.559G>A	gnomAD v4
2	g.27085000G>C	CA346155908	EMILIN1	c.2567G>C (p.Gly856Ala) c.559G>C
2	g.27085000G>T	CA346155911	EMILIN1	c.2567G>T (p.Gly856Val) c.559G>T
2	g.27085001T>A	CA425382039	EMILIN1	c.2568T>A (p.Gly856=) c.560T>A
2	g.27085001T>C	CA425382040	EMILIN1	c.2568T>C (p.Gly856=) c.560T>C
2	g.27085001T>G	CA425382042	EMILIN1	c.2568T>G (p.Gly856=) c.560T>G
2	g.27085002G>A	CA346155913	EMILIN1	c.2569G>A (p.Glu857Lys) c.561G>A
2	g.27085002G>C	CA346155915	EMILIN1	c.2569G>C (p.Glu857Gln) c.561G>C
2	g.27085002G>T	CA346155916	EMILIN1	c.2569G>T (p.Glu857Ter) c.561G>T
2	g.27085003A>C	CA346155921	EMILIN1	c.2570A>C (p.Glu857Ala) c.562A>C
2	g.27085003A>G	CA346155923	EMILIN1	c.2570A>G (p.Glu857Gly) c.562A>G
2	g.27085003A>T	CA346155919	EMILIN1	c.2570A>T (p.Glu857Val) c.562A>T
2	g.27085004A>C	CA346155926	EMILIN1	c.2571A>C (p.Glu857Asp) c.563A>C
2	g.27085004A>G	CA425382046	EMILIN1	c.2571A>G (p.Glu857=) c.563A>G
2	g.27085004A>T	CA346155927	EMILIN1	c.2571A>T (p.Glu857Asp) c.563A>T
2	g.27085005C>A	CA346155928	EMILIN1	c.2572C>A (p.Gln858Lys) c.564C>A
2	g.27085005C=	CA1240109585	EMILIN1	c.2572C= (p.Gln858=) c.564C=
2	g.27085005C>G	CA346155930	EMILIN1	c.2572C>G (p.Gln858Glu) c.564C>G	dbSNP
2	g.27085005C>T	CA346155932	EMILIN1	c.2572C>T (p.Gln858Ter) c.564C>T
2	g.27085006A>C	CA346155934	EMILIN1	c.2573A>C (p.Gln858Pro) c.565A>C
2	g.27085006A>G	CA346155936	EMILIN1	c.2573A>G (p.Gln858Arg) c.565A>G
2	g.27085006A>T	CA346155937	EMILIN1	c.2573A>T (p.Gln858Leu) c.565A>T
2	g.27085007G>A	CA425382050	EMILIN1	c.2574G>A (p.Gln858=) c.566G>A
2	g.27085007G>C	CA346155939	EMILIN1	c.2574G>C (p.Gln858His) c.566G>C
2	g.27085007G>T	CA346155940	EMILIN1	c.2574G>T (p.Gln858His) c.566G>T
2	g.27085008G>A	CA346155943	EMILIN1	c.2575G>A (p.Gly859Arg) c.567G>A c.2575G>A (p.Gly859Ser)	gnomAD v4
2	g.27085008G>C	CA346155945	EMILIN1	c.2575G>C (p.Gly859Arg) c.567G>C
2	g.27085008G>T	CA346155946	EMILIN1	c.2575G>T (p.Gly859Ter) c.567G>T c.2575G>T (p.Gly859Cys)
2	g.27085009G>A	CA1568968	EMILIN1	c.2575+1G>A (n.2575+1G>A) c.567+1G>A	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.27085009G>C	CA346155951	EMILIN1	c.2575+1G>C (n.2575+1G>C) c.567+1G>C	gnomAD v4
2	g.27085009G=	CA1240109586	EMILIN1	c.2575+1G= (n.2575+1G=) c.567+1G=
2	g.27085009G>T	CA346155948	EMILIN1	c.2575+1G>T (n.2575+1G>T) c.567+1G>T	gnomAD v4
2	g.27085012_27085015del	CA2658283318	EMILIN1	c.2575+4_2575+7del (n.2575+4_2575+7del) c.567+4_567+7del	gnomAD v4
2	g.27085010T>A	CA346155952	EMILIN1	c.2575+2T>A (n.2575+2T>A) c.567+2T>A
2	g.27085010T>C	CA346155953	EMILIN1	c.2575+2T>C (n.2575+2T>C) c.567+2T>C	gnomAD v4
2	g.27085010T>G	CA1568969	EMILIN1	c.2575+2T>G (n.2575+2T>G) c.567+2T>G	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.27085010T=	CA1240109587	EMILIN1	c.2575+2T= (n.2575+2T=) c.567+2T=
2	g.27085011G>A	CA1568970	EMILIN1	c.2575+3G>A (n.2575+3G>A) c.567+3G>A	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.27085011G=	CA1240109588	EMILIN1	c.2575+3G= (n.2575+3G=) c.567+3G=
2	g.27085013G>A	CA2658283335	EMILIN1	c.2575+5G>A (n.2575+5G>A) c.567+5G>A	gnomAD v4
2	g.27085013G>T	CA2658283336	EMILIN1	c.2575+5G>T (n.2575+5G>T) c.567+5G>T	gnomAD v4

Number of alleles fetched