Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.80104734_80107789del	CA658795223	GAA	c.148_859-11del	ClinVar
17	g.80107483_80107495del	CA2640278971	GAA	c.693-74_693-62del (n.693-74_693-62del)	gnomAD v4
17	g.80107492_80107502del	CA628018314	GAA	c.693-65_693-55del (n.693-65_693-55del)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107495G=	CA2277812182	GAA	c.693-62G= (n.693-62G=)
17	g.80107495G>T	CA2277812183	GAA	c.693-62G>T (n.693-62G>T)	dbSNP gnomAD v3 gnomAD v4
17	g.80107496T>C	CA294889504	GAA	c.693-61T>C (n.693-61T>C)	dbSNP
17	g.80107496T=	CA2277812184	GAA	c.693-61T= (n.693-61T=)
17	g.80107497_80107499delinsGCT	CA2277812185	GAA	c.693-60_693-58delinsGCT (n.693-60_693-58delinsGCT)
17	g.80107498C=	CA2277812187	GAA	c.693-59C= (n.693-59C=)
17	g.80107498C>G	CA2576413973	GAA	c.693-59C>G (n.693-59C>G)
17	g.80107498C>T	CA2277812186	GAA	c.693-59C>T (n.693-59C>T)	dbSNP
17	g.80107501_80107502del	CA986723204	GAA	c.693-56_693-55del (n.693-56_693-55del)	dbSNP gnomAD v3 gnomAD v4
17	g.80107499T>C	CA2576413974	GAA	c.693-58T>C (n.693-58T>C)
17	g.80107499T>G	CA2640279004	GAA	c.693-58T>G (n.693-58T>G)	gnomAD v4
17	g.80107500C=	CA2277812188	GAA	c.693-57C= (n.693-57C=)
17	g.80107500C>G	CA2277812189	GAA	c.693-57C>G (n.693-57C>G)	dbSNP gnomAD v4
17	g.80107500C>T	CA628018315	GAA	c.693-57C>T (n.693-57C>T)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107503A>G	CA2734096349	GAA	c.693-54A>G (n.693-54A>G)	dbSNP
17	g.80107504G=	CA2277812190	GAA	c.693-53G= (n.693-53G=)
17	g.80107504G>T	CA986723206	GAA	c.693-53G>T (n.693-53G>T)	dbSNP gnomAD v3 gnomAD v4
17	g.80107505G>A	CA986723207	GAA	c.693-52G>A (n.693-52G>A)	dbSNP gnomAD v3 gnomAD v4
17	g.80107505G=	CA2277812191	GAA	c.693-52G= (n.693-52G=)
17	g.80107505G>T	CA2640279007	GAA	c.693-52G>T (n.693-52G>T)	gnomAD v4
17	g.80107506C>A	CA2640279008	GAA	c.693-51C>A (n.693-51C>A)	gnomAD v4
17	g.80107506C=	CA2277812192	GAA	c.693-51C= (n.693-51C=)
17	g.80107506C>T	CA2277812193	GAA	c.693-51C>T (n.693-51C>T)	dbSNP gnomAD v4
17	g.80107508C>A	CA2581285023	GAA	c.693-49C>A (n.693-49C>A)
17	g.80107508C=	CA2277812194	GAA	c.693-49C= (n.693-49C=)
17	g.80107508C>G	CA2581285022	GAA	c.693-49C>G (n.693-49C>G)
17	g.80107508C>T	CA8814982	GAA	c.693-49C>T (n.693-49C>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107509G>A	CA8814983	GAA	c.693-48G>A (n.693-48G>A)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107509G>C	CA628018316	GAA	c.693-48G>C (n.693-48G>C)	dbSNP gnomAD v2
17	g.80107509G=	CA2277812195	GAA	c.693-48G= (n.693-48G=)
17	g.80107509G>T	CA8814984	GAA	c.693-48G>T (n.693-48G>T)	dbSNP ExAC gnomAD v2
17	g.80107510T>C	CA628018317	GAA	c.693-47T>C (n.693-47T>C)	dbSNP gnomAD v2 gnomAD v4
17	g.80107510T=	CA2277812196	GAA	c.693-47T= (n.693-47T=)
17	g.80107512T>G	CA986723211	GAA	c.693-45T>G (n.693-45T>G)	dbSNP gnomAD v3 gnomAD v4
17	g.80107512T=	CA2277812197	GAA	c.693-45T= (n.693-45T=)
17	g.80107513G>T	CA2576413975	GAA	c.693-44G>T (n.693-44G>T)
17	g.80107514G>T	CA2640279022	GAA	c.693-43G>T (n.693-43G>T)	gnomAD v4
17	g.80107515C>A	CA2277812199	GAA	c.693-42C>A (n.693-42C>A)	dbSNP
17	g.80107515C=	CA2277812198	GAA	c.693-42C= (n.693-42C=)
17	g.80107515C>G	CA2640279026	GAA	c.693-42C>G (n.693-42C>G)	gnomAD v4
17	g.80107517C>T	CA2640279028	GAA	c.693-40C>T (n.693-40C>T)	gnomAD v4
17	g.80107518C>A	CA2640279029	GAA	c.693-39C>A (n.693-39C>A)	gnomAD v4
17	g.80107519T>C	CA775510870	GAA	c.693-38T>C (n.693-38T>C)	dbSNP gnomAD v4
17	g.80107519T=	CA2277812200	GAA	c.693-38T= (n.693-38T=)
17	g.80107521G>A	CA2576413976	GAA	c.693-36G>A (n.693-36G>A)	gnomAD v4
17	g.80107523G>A	CA2277812202	GAA	c.693-34G>A (n.693-34G>A)	dbSNP
17	g.80107523G=	CA2277812201	GAA	c.693-34G= (n.693-34G=)
17	g.80107523G>T	CA2640279033	GAA	c.693-34G>T (n.693-34G>T)	gnomAD v4
17	g.80107525G>A	CA628018318	GAA	c.693-32G>A (n.693-32G>A)	dbSNP gnomAD v2 gnomAD v4
17	g.80107525G=	CA2277812203	GAA	c.693-32G= (n.693-32G=)
17	g.80107525G>T	CA2640279035	GAA	c.693-32G>T (n.693-32G>T)	gnomAD v4
17	g.80107527G>A	CA8814985	GAA	c.693-30G>A (n.693-30G>A)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80107527G=	CA2277812204	GAA	c.693-30G= (n.693-30G=)
17	g.80107528A>C	CA2640279039	GAA	c.693-29A>C (n.693-29A>C)	gnomAD v4
17	g.80107530C=	CA2277812205	GAA	c.693-27C= (n.693-27C=)
17	g.80107530C>T	CA8814986	GAA	c.693-27C>T (n.693-27C>T)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80107531A=	CA2277812206	GAA	c.693-26A= (n.693-26A=)
17	g.80107531A>C	CA628018319	GAA	c.693-26A>C (n.693-26A>C)	dbSNP gnomAD v2 gnomAD v4
17	g.80107531A>T	CA2640279044	GAA	c.693-26A>T (n.693-26A>T)	gnomAD v4
17	g.80107532A=	CA2277812207	GAA	c.693-25A= (n.693-25A=)
17	g.80107532A>G	CA628018320	GAA	c.693-25A>G (n.693-25A>G)	dbSNP gnomAD v2 gnomAD v4
17	g.80107534C=	CA2277812208	GAA	c.693-23C= (n.693-23C=)
17	g.80107534C>T	CA8814987	GAA	c.693-23C>T (n.693-23C>T)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80107535C>A	CA2576413977	GAA	c.693-22C>A (n.693-22C>A)
17	g.80107536T>C	CA294889545	GAA	c.693-21T>C (n.693-21T>C)	dbSNP gnomAD v3 gnomAD v4
17	g.80107536T=	CA2277812209	GAA	c.693-21T= (n.693-21T=)
17	g.80107537G>A	CA2277812211	GAA	c.693-20G>A (n.693-20G>A)	ClinVar dbSNP gnomAD v4
17	g.80107537G=	CA2277812210	GAA	c.693-20G= (n.693-20G=)
17	g.80107537G>T	CA2576413978	GAA	c.693-20G>T (n.693-20G>T)
17	g.80107538G>A	CA628018321	GAA	c.693-19G>A (n.693-19G>A)	dbSNP gnomAD v2 gnomAD v4
17	g.80107538G>C	CA2573154936	GAA	c.693-19G>C (n.693-19G>C)	ClinVar dbSNP
17	g.80107538G=	CA2277812212	GAA	c.693-19G= (n.693-19G=)
17	g.80107538G>T	CA775510890	GAA	c.693-19G>T (n.693-19G>T)	ClinVar dbSNP
17	g.80107539C=	CA2277812213	GAA	c.693-18C= (n.693-18C=)
17	g.80107539C>G	CA294889546	GAA	c.693-18C>G (n.693-18C>G)	dbSNP gnomAD v2 gnomAD v4
17	g.80107542G>A	CA8814988	GAA	c.693-15G>A (n.693-15G>A)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80107542G=	CA2277812214	GAA	c.693-15G= (n.693-15G=)
17	g.80107543C>T	CA2697555231	GAA	c.693-14C>T (n.693-14C>T)	ClinVar
17	g.80107544C=	CA2277812215	GAA	c.693-13C= (n.693-13C=)
17	g.80107544C>G	CA8814989	GAA	c.693-13C>G (n.693-13C>G)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107544C>T	CA2573154937	GAA	c.693-13C>T (n.693-13C>T)	ClinVar dbSNP gnomAD v4
17	g.80107546C>G	CA2640279113	GAA	c.693-11C>G (n.693-11C>G)	ClinVar gnomAD v4
17	g.80107547T>C	CA2499225001	GAA	c.693-10T>C (n.693-10T>C)	ClinVar dbSNP gnomAD v4
17	g.80107548G>C	CA2697555232	GAA	c.693-9G>C (n.693-9G>C)	ClinVar
17	g.80107549_80107550delinsTC	CA2277812216	GAA	c.693-8_693-7delinsTC (n.693-8_693-7delinsTC)
17	g.80107550C=	CA2277812217	GAA	c.693-7C= (n.693-7C=)
17	g.80107550C>G	CA2277812218	GAA	c.693-7C>G (n.693-7C>G)	dbSNP
17	g.80107550C>T	CA2739268461	GAA	c.693-7C>T (n.693-7C>T)	ClinVar
17	g.80107552del	CA502402271	GAA	c.693-5del (n.693-5del)	ClinVar dbSNP gnomAD v4
17	g.80107551C>G	CA2640279126	GAA	c.693-6C>G (n.693-6C>G)	ClinVar gnomAD v4
17	g.80107551C>T	CA2573154938	GAA	c.693-6C>T (n.693-6C>T)	ClinVar dbSNP
17	g.80107552C=	CA2277812219	GAA	c.693-5C= (n.693-5C=)
17	g.80107552C>G	CA2573154939	GAA	c.693-5C>G (n.693-5C>G)	ClinVar dbSNP
17	g.80107552C>T	CA8814990	GAA	c.693-5C>T (n.693-5C>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107553G>A	CA8814992	GAA	c.693-4G>A (n.693-4G>A)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107553G=	CA2277812220	GAA	c.693-4G= (n.693-4G=)
17	g.80107553G>T	CA8814991	GAA	c.693-4G>T (n.693-4G>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107555A=	CA2277812221	GAA	c.693-2A= (n.693-2A=)
17	g.80107555A>C	CA401362933	GAA	c.693-2A>C (n.693-2A>C)	ClinVar dbSNP
17	g.80107555A>G	CA401362934	GAA	c.693-2A>G (n.693-2A>G)
17	g.80107555A>T	CA401362936	GAA	c.693-2A>T (n.693-2A>T)
17	g.80107556G>A	CA401362939	GAA	c.693-1G>A (n.693-1G>A)
17	g.80107556G>C	CA401362948	GAA	c.693-1G>C (n.693-1G>C)	ClinVar dbSNP
17	g.80107556G>T	CA401362951	GAA	c.693-1G>T (n.693-1G>T)
17	g.80107557G>A	CA502402275	GAA	c.693G>A (p.Leu231=)	dbSNP gnomAD v2 gnomAD v4
17	g.80107557G>C	CA502402276	GAA	c.693G>C (p.Leu231=)
17	g.80107557G=	CA2277812222	GAA	c.693G= (p.Leu231=)
17	g.80107557G>T	CA502402277	GAA	c.693G>T (p.Leu231=)	ClinVar
17	g.80107558C>A	CA401362958	GAA	c.694C>A (p.Leu232Met)
17	g.80107558C>G	CA401362954	GAA	c.694C>G (p.Leu232Val)
17	g.80107558C>T	CA502402278	GAA	c.694C>T (p.Leu232=)
17	g.80107559T>A	CA401362961	GAA	c.695T>A (p.Leu232Gln)
17	g.80107559T>C	CA401362964	GAA	c.695T>C (p.Leu232Pro)
17	g.80107559T>G	CA401362970	GAA	c.695T>G (p.Leu232Arg)
17	g.80107560G>A	CA502402281	GAA	c.696G>A (p.Leu232=)	dbSNP gnomAD v2
17	g.80107560G>C	CA502402282	GAA	c.696G>C (p.Leu232=)
17	g.80107560G=	CA2277812223	GAA	c.696G= (p.Leu232=)
17	g.80107560G>T	CA502402283	GAA	c.696G>T (p.Leu232=)
17	g.80107561A>C	CA401362972	GAA	c.697A>C (p.Asn233His)
17	g.80107561A>G	CA401362975	GAA	c.697A>G (p.Asn233Asp)
17	g.80107561A>T	CA401362977	GAA	c.697A>T (p.Asn233Tyr)
17	g.80107562A>C	CA401362986	GAA	c.698A>C (p.Asn233Thr)
17	g.80107562A>G	CA401362981	GAA	c.698A>G (p.Asn233Ser)
17	g.80107562A>T	CA401362983	GAA	c.698A>T (p.Asn233Ile)
17	g.80107563C>A	CA401362988	GAA	c.699C>A (p.Asn233Lys)
17	g.80107563C>G	CA401362991	GAA	c.699C>G (p.Asn233Lys)	gnomAD v4
17	g.80107563C>T	CA502402288	GAA	c.699C>T (p.Asn233=)
17	g.80107564A=	CA2277812224	GAA	c.700A= (p.Thr234=)
17	g.80107564A>C	CA401362994	GAA	c.700A>C (p.Thr234Pro)
17	g.80107564A>G	CA8814993	GAA	c.700A>G (p.Thr234Ala)	ClinVar dbSNP ExAC gnomAD v2
17	g.80107564A>T	CA401362998	GAA	c.700A>T (p.Thr234Ser)
17	g.80107565C>A	CA401363004	GAA	c.701C>A (p.Thr234Lys)
17	g.80107565C=	CA2277812225	GAA	c.701C= (p.Thr234=)
17	g.80107565C>G	CA401363009	GAA	c.701C>G (p.Thr234Arg)
17	g.80107565C>T	CA8814994	GAA	c.701C>T (p.Thr234Met)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17	g.80107566G>A	CA8814995	GAA	c.702G>A (p.Thr234=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107566G>C	CA502402290	GAA	c.702G>C (p.Thr234=)
17	g.80107566G=	CA2277812226	GAA	c.702G= (p.Thr234=)
17	g.80107566G>T	CA502402291	GAA	c.702G>T (p.Thr234=)
17	g.80107567A=	CA2277812227	GAA	c.703A= (p.Thr235=)
17	g.80107567A>C	CA401363012	GAA	c.703A>C (p.Thr235Pro)
17	g.80107567A>G	CA8814996	GAA	c.703A>G (p.Thr235Ala)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80107567A>T	CA401363018	GAA	c.703A>T (p.Thr235Ser)	dbSNP
17	g.80107568C>A	CA401363020	GAA	c.704C>A (p.Thr235Lys)
17	g.80107568C=	CA2277812228	GAA	c.704C= (p.Thr235=)
17	g.80107568C>G	CA401363023	GAA	c.704C>G (p.Thr235Arg)
17	g.80107568C>T	CA8814997	GAA	c.704C>T (p.Thr235Met)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107568_80107570dup	CA628018322	GAA	c.704_706dup (p.Thr235_Val236insAla)	gnomAD v2 gnomAD v4
17	g.80107569G>A	CA8814998	GAA	c.705G>A (p.Thr235=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107569G>C	CA502402296	GAA	c.705G>C (p.Thr235=)
17	g.80107569G=	CA2277812229	GAA	c.705G= (p.Thr235=)
17	g.80107569G>T	CA502402297	GAA	c.705G>T (p.Thr235=)
17	g.80107570del	CA2695227068	GAA	c.706del (p.Val236TrpfsTer?)
17	g.80107570G>A	CA401363030	GAA	c.706G>A (p.Val236Met)
17	g.80107570G>C	CA401363032	GAA	c.706G>C (p.Val236Leu)
17	g.80107570G=	CA2277812230	GAA	c.706G= (p.Val236=)
17	g.80107570G>T	CA8814999	GAA	c.706G>T (p.Val236Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80107571T>A	CA401363042	GAA	c.707T>A (p.Val236Glu)
17	g.80107571T>C	CA401363040	GAA	c.707T>C (p.Val236Ala)
17	g.80107571T>G	CA401363037	GAA	c.707T>G (p.Val236Gly)
17	g.80107572G>A	CA502402305	GAA	c.708G>A (p.Val236=)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.80107572G>C	CA502402302	GAA	c.708G>C (p.Val236=)
17	g.80107572G=	CA2277812231	GAA	c.708G= (p.Val236=)
17	g.80107572G>T	CA502402301	GAA	c.708G>T (p.Val236=)	ClinVar dbSNP
17	g.80107573dup	CA913014088	GAA	c.709dup (p.Ala237GlyfsTer?)
17	g.80107573G>A	CA401363045	GAA	c.709G>A (p.Ala237Thr)
17	g.80107573G>C	CA401363056	GAA	c.709G>C (p.Ala237Pro)	dbSNP
17	g.80107573G=	CA2277812232	GAA	c.709G= (p.Ala237=)
17	g.80107573G>T	CA401363054	GAA	c.709G>T (p.Ala237Ser)	dbSNP gnomAD v4
17	g.80107575_80107576dup	CA658824778	GAA	c.711_712dup (p.Pro238ArgfsTer31)	ClinVar dbSNP
17	g.80107574C>A	CA401363061	GAA	c.710C>A (p.Ala237Glu)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107574C=	CA2277812233	GAA	c.710C= (p.Ala237=)
17	g.80107574C>G	CA401363065	GAA	c.710C>G (p.Ala237Gly)
17	g.80107574C>T	CA116619	GAA	c.710C>T (p.Ala237Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107575G>A	CA8815000	GAA	c.711G>A (p.Ala237=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17	g.80107575G>C	CA502402311	GAA	c.711G>C (p.Ala237=)	ClinVar gnomAD v4
17	g.80107575G=	CA2277812234	GAA	c.711G= (p.Ala237=)
17	g.80107575G>T	CA502402312	GAA	c.711G>T (p.Ala237=)	gnomAD v4
17	g.80107576C>A	CA401363069	GAA	c.712C>A (p.Pro238Thr)
17	g.80107576C=	CA2277812235	GAA	c.712C= (p.Pro238=)
17	g.80107576C>G	CA401363072	GAA	c.712C>G (p.Pro238Ala)
17	g.80107576C>T	CA401363074	GAA	c.712C>T (p.Pro238Ser)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.80107577C>A	CA401363076	GAA	c.713C>A (p.Pro238His)
17	g.80107577C>G	CA401363079	GAA	c.713C>G (p.Pro238Arg)
17	g.80107577C>T	CA401363081	GAA	c.713C>T (p.Pro238Leu)	ClinVar
17	g.80107578C>A	CA502402316	GAA	c.714C>A (p.Pro238=)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.80107578C=	CA2277812236	GAA	c.714C= (p.Pro238=)
17	g.80107578C>G	CA502402320	GAA	c.714C>G (p.Pro238=)
17	g.80107578C>T	CA502402318	GAA	c.714C>T (p.Pro238=)
17	g.80107579C>A	CA401363085	GAA	c.715C>A (p.Leu239Met)
17	g.80107579C=	CA2277812237	GAA	c.715C= (p.Leu239=)
17	g.80107579C>G	CA401363087	GAA	c.715C>G (p.Leu239Val)	gnomAD v4
17	g.80107579C>T	CA8815001	GAA	c.715C>T (p.Leu239=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107579_80107580del	CA913014089	GAA	c.715_716del (p.Leu239ValfsTer?)
17	g.80107579_80107580delinsCT	CA2277812238	GAA	c.715_716delinsCT (p.Leu239=)
17	g.80107580del	CA658795234	GAA	c.716del (p.Leu239ArgfsTer29)	ClinVar dbSNP
17	g.80107580T>A	CA401363098	GAA	c.716T>A (p.Leu239Gln)
17	g.80107580T>C	CA401363096	GAA	c.716T>C (p.Leu239Pro)	ClinVar dbSNP
17	g.80107580T>G	CA401363093	GAA	c.716T>G (p.Leu239Arg)
17	g.80107581G>A	CA502402323	GAA	c.717G>A (p.Leu239=)	gnomAD v4
17	g.80107581G>C	CA502402322	GAA	c.717G>C (p.Leu239=)	dbSNP gnomAD v3 gnomAD v4
17	g.80107581G=	CA2277812239	GAA	c.717G= (p.Leu239=)
17	g.80107581G>T	CA502402321	GAA	c.717G>T (p.Leu239=)	ClinVar
17	g.80107582T>A	CA401363101	GAA	c.718T>A (p.Phe240Ile)
17	g.80107582T>C	CA401363104	GAA	c.718T>C (p.Phe240Leu)
17	g.80107582T>G	CA401363116	GAA	c.718T>G (p.Phe240Val)
17	g.80107583T>A	CA401363117	GAA	c.719T>A (p.Phe240Tyr)
17	g.80107583T>C	CA401363119	GAA	c.719T>C (p.Phe240Ser)
17	g.80107583T>G	CA401363121	GAA	c.719T>G (p.Phe240Cys)
17	g.80107584C>A	CA401363123	GAA	c.720C>A (p.Phe240Leu)
17	g.80107584C=	CA2277812240	GAA	c.720C= (p.Phe240=)
17	g.80107584C>G	CA401363125	GAA	c.720C>G (p.Phe240Leu)
17	g.80107584C>T	CA502402331	GAA	c.720C>T (p.Phe240=)	dbSNP gnomAD v2 gnomAD v4
17	g.80107584_80107586delinsCTT	CA2277812241	GAA	c.720_722delinsCTT (p.Phe240=)
17	g.80107585T>A	CA401363128	GAA	c.721T>A (p.Phe241Ile)
17	g.80107585T>C	CA401363131	GAA	c.721T>C (p.Phe241Leu)
17	g.80107585T>G	CA401363134	GAA	c.721T>G (p.Phe241Val)
17	g.80107586_80107587del	CA658795235	GAA	c.722_723del (p.Phe241CysfsTer?)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.80107586T>A	CA401363140	GAA	c.722T>A (p.Phe241Tyr)
17	g.80107586T>C	CA401363142	GAA	c.722T>C (p.Phe241Ser)
17	g.80107586T>G	CA401363136	GAA	c.722T>G (p.Phe241Cys)
17	g.80107587T>A	CA401363147	GAA	c.723T>A (p.Phe241Leu)
17	g.80107587T>C	CA502402338	GAA	c.723T>C (p.Phe241=)	ClinVar gnomAD v4
17	g.80107587T>G	CA401363149	GAA	c.723T>G (p.Phe241Leu)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107587T=	CA2277812242	GAA	c.723T= (p.Phe241=)
17	g.80107588G>A	CA401363151	GAA	c.724G>A (p.Ala242Thr)	gnomAD v4
17	g.80107588G>C	CA401363154	GAA	c.724G>C (p.Ala242Pro)
17	g.80107588G>T	CA401363159	GAA	c.724G>T (p.Ala242Ser)
17	g.80107589C>A	CA8815003	GAA	c.725C>A (p.Ala242Glu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107589C=	CA2277812243	GAA	c.725C= (p.Ala242=)
17	g.80107589C>G	CA401363162	GAA	c.725C>G (p.Ala242Gly)
17	g.80107589C>T	CA8815002	GAA	c.725C>T (p.Ala242Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107590G>A	CA8815004	GAA	c.726G>A (p.Ala242=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107590G>C	CA502402349	GAA	c.726G>C (p.Ala242=)	ClinVar dbSNP
17	g.80107590G=	CA2277812244	GAA	c.726G= (p.Ala242=)
17	g.80107590G>T	CA502402350	GAA	c.726G>T (p.Ala242=)
17	g.80107591G>A	CA401363168	GAA	c.727G>A (p.Asp243Asn)	ClinVar dbSNP gnomAD v4
17	g.80107591G>C	CA401363170	GAA	c.727G>C (p.Asp243His)
17	g.80107591G=	CA2277812245	GAA	c.727G= (p.Asp243=)
17	g.80107591G>T	CA401363171	GAA	c.727G>T (p.Asp243Tyr)
17	g.80107591_80107592insCCACCAGGACA	CA2739268462	GAA	c.727_728insCCACCAGGACA (p.Asp243AlafsTer29)	ClinVar
17	g.80107592A>C	CA401363176	GAA	c.728A>C (p.Asp243Ala)
17	g.80107592A>G	CA401363179	GAA	c.728A>G (p.Asp243Gly)
17	g.80107592A>T	CA401363174	GAA	c.728A>T (p.Asp243Val)
17	g.80107593C>A	CA401363182	GAA	c.729C>A (p.Asp243Glu)	COSMIC
17	g.80107593C>G	CA401363185	GAA	c.729C>G (p.Asp243Glu)	gnomAD v4
17	g.80107593C>T	CA502402354	GAA	c.729C>T (p.Asp243=)	ClinVar gnomAD v4
17	g.80107594C>A	CA401363189	GAA	c.730C>A (p.Gln244Lys)
17	g.80107594C>G	CA401363191	GAA	c.730C>G (p.Gln244Glu)
17	g.80107594C>T	CA401363194	GAA	c.730C>T (p.Gln244Ter)
17	g.80107595A>C	CA401363202	GAA	c.731A>C (p.Gln244Pro)
17	g.80107595A>G	CA401363198	GAA	c.731A>G (p.Gln244Arg)
17	g.80107595A>T	CA401363201	GAA	c.731A>T (p.Gln244Leu)

Number of alleles fetched