Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.80104734_80107789del	CA658795223	GAA	c.148_859-11del	ClinVar
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)
17	g.80107596G>A	CA502402358	GAA	c.732G>A (p.Gln244=)
17	g.80107596G>C	CA401363204	GAA	c.732G>C (p.Gln244His)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.80107596G=	CA2277812246	GAA	c.732G= (p.Gln244=)
17	g.80107596G>T	CA401363206	GAA	c.732G>T (p.Gln244His)
17	g.80107597T>A	CA401363207	GAA	c.733T>A (p.Phe245Ile)
17	g.80107597T>C	CA401363209	GAA	c.733T>C (p.Phe245Leu)
17	g.80107597T>G	CA294889597	GAA	c.733T>G (p.Phe245Val)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.80107597T=	CA2277812247	GAA	c.733T= (p.Phe245=)
17	g.80107598T>A	CA401363217	GAA	c.734T>A (p.Phe245Tyr)
17	g.80107598T>C	CA401363214	GAA	c.734T>C (p.Phe245Ser)
17	g.80107598T>G	CA401363212	GAA	c.734T>G (p.Phe245Cys)
17	g.80107598_80107599delinsTC	CA2277812248	GAA	c.734_735delinsTC (p.Phe245=)
17	g.80107599C>A	CA401363219	GAA	c.735C>A (p.Phe245Leu)	gnomAD v4
17	g.80107599C=	CA2277812249	GAA	c.735C= (p.Phe245=)
17	g.80107599C>G	CA401363223	GAA	c.735C>G (p.Phe245Leu)
17	g.80107599C>T	CA502402359	GAA	c.735C>T (p.Phe245=)	ClinVar dbSNP COSMIC
17	g.80107600del	CA10606113	GAA	c.736del (p.Leu246PhefsTer22)	ClinVar dbSNP
17	g.80107600C>A	CA401363228	GAA	c.736C>A (p.Leu246Ile)
17	g.80107600C=	CA2277812250	GAA	c.736C= (p.Leu246=)
17	g.80107600C>G	CA401363226	GAA	c.736C>G (p.Leu246Val)
17	g.80107600C>T	CA8815005	GAA	c.736C>T (p.Leu246Phe)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107601T>A	CA401363232	GAA	c.737T>A (p.Leu246His)
17	g.80107601T>C	CA401363233	GAA	c.737T>C (p.Leu246Pro)
17	g.80107601T>G	CA401363235	GAA	c.737T>G (p.Leu246Arg)	ClinVar dbSNP
17	g.80107601T=	CA2277812251	GAA	c.737T= (p.Leu246=)
17	g.80107602T>A	CA502402363	GAA	c.738T>A (p.Leu246=)
17	g.80107602T>C	CA502402364	GAA	c.738T>C (p.Leu246=)
17	g.80107602T>G	CA502402365	GAA	c.738T>G (p.Leu246=)
17	g.80107603C>A	CA401363238	GAA	c.739C>A (p.Gln247Lys)
17	g.80107603C>G	CA401363240	GAA	c.739C>G (p.Gln247Glu)
17	g.80107603C>T	CA401363242	GAA	c.739C>T (p.Gln247Ter)	ClinVar
17	g.80107604A>C	CA401363245	GAA	c.740A>C (p.Gln247Pro)
17	g.80107604A>G	CA401363248	GAA	c.740A>G (p.Gln247Arg)
17	g.80107604A>T	CA401363250	GAA	c.740A>T (p.Gln247Leu)
17	g.80107605G>A	CA502402367	GAA	c.741G>A (p.Gln247=)	ClinVar
17	g.80107605G>C	CA401363255	GAA	c.741G>C (p.Gln247His)	dbSNP
17	g.80107605G=	CA2277812252	GAA	c.741G= (p.Gln247=)
17	g.80107605G>T	CA401363252	GAA	c.741G>T (p.Gln247His)
17	g.80107606del	CA658795236	GAA	c.742del (p.Leu248CysfsTer20)	ClinVar
17	g.80107606C>A	CA401363257	GAA	c.742C>A (p.Leu248Met)
17	g.80107606C>G	CA401363258	GAA	c.742C>G (p.Leu248Val)
17	g.80107606C>T	CA502402370	GAA	c.742C>T (p.Leu248=)	ClinVar gnomAD v4
17	g.80107607T>A	CA401363260	GAA	c.743T>A (p.Leu248Gln)
17	g.80107607T>C	CA401363263	GAA	c.743T>C (p.Leu248Pro)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107607T>G	CA401363265	GAA	c.743T>G (p.Leu248Arg)
17	g.80107607T=	CA2277812253	GAA	c.743T= (p.Leu248=)
17	g.80107608G>A	CA502402372	GAA	c.744G>A (p.Leu248=)
17	g.80107608G>C	CA8815006	GAA	c.744G>C (p.Leu248=)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80107608G=	CA2277812254	GAA	c.744G= (p.Leu248=)
17	g.80107608G>T	CA502402373	GAA	c.744G>T (p.Leu248=)
17	g.80107609T>A	CA401363268	GAA	c.745T>A (p.Ser249Thr)
17	g.80107609T>C	CA401363271	GAA	c.745T>C (p.Ser249Pro)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.80107609T>G	CA401363274	GAA	c.745T>G (p.Ser249Ala)
17	g.80107609T=	CA2277812255	GAA	c.745T= (p.Ser249=)
17	g.80107610C>A	CA401363277	GAA	c.746C>A (p.Ser249Tyr)
17	g.80107610C>G	CA401363278	GAA	c.746C>G (p.Ser249Cys)
17	g.80107610C>T	CA401363280	GAA	c.746C>T (p.Ser249Phe)
17	g.80107612_80107623del	CA2640279336	GAA	c.748_759del (p.Thr250_Pro253del)	gnomAD v4
17	g.80107611C>A	CA502402374	GAA	c.747C>A (p.Ser249=)
17	g.80107611C=	CA2277812256	GAA	c.747C= (p.Ser249=)
17	g.80107611C>G	CA502402375	GAA	c.747C>G (p.Ser249=)	ClinVar
17	g.80107611C>T	CA502402376	GAA	c.747C>T (p.Ser249=)	ClinVar dbSNP gnomAD v4
17	g.80107612A=	CA2277812257	GAA	c.748A= (p.Thr250=)
17	g.80107612A>C	CA401363288	GAA	c.748A>C (p.Thr250Pro)
17	g.80107612A>G	CA401363286	GAA	c.748A>G (p.Thr250Ala)	ClinVar dbSNP gnomAD v4
17	g.80107612A>T	CA401363284	GAA	c.748A>T (p.Thr250Ser)	dbSNP gnomAD v3 gnomAD v4
17	g.80107613C>A	CA401363292	GAA	c.749C>A (p.Thr250Asn)
17	g.80107613C=	CA2277812258	GAA	c.749C= (p.Thr250=)
17	g.80107613C>G	CA401363295	GAA	c.749C>G (p.Thr250Ser)
17	g.80107613C>T	CA401363297	GAA	c.749C>T (p.Thr250Ile)	dbSNP gnomAD v2
17	g.80107619_80107627del	CA2640279352	GAA	c.755_763del (p.Leu252_Ser254del)	gnomAD v4
17	g.80107614C>A	CA502402615	GAA	c.750C>A (p.Thr250=)
17	g.80107614C>G	CA502402613	GAA	c.750C>G (p.Thr250=)
17	g.80107614C>T	CA502402614	GAA	c.750C>T (p.Thr250=)	ClinVar dbSNP gnomAD v4
17	g.80107615T>A	CA401363302	GAA	c.751T>A (p.Ser251Thr)
17	g.80107615T>C	CA401363304	GAA	c.751T>C (p.Ser251Pro)
17	g.80107615T>G	CA401363308	GAA	c.751T>G (p.Ser251Ala)
17	g.80107616C>A	CA401363310	GAA	c.752C>A (p.Ser251Ter)
17	g.80107616C=	CA2277812259	GAA	c.752C= (p.Ser251=)
17	g.80107616C>G	CA401363312	GAA	c.752C>G (p.Ser251Trp)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.80107616C>T	CA8815007	GAA	c.752C>T (p.Ser251Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.[80107616C>T;80107625C>T]	CA2573102892	GAA	c.[752C>T;761C>T] (p.[Ser251Leu;Ser254Leu])
17	g.80107616_80107625delinsTGCTGCCCTT	CA2695227069	GAA	c.752_761delinsTGCTGCCCTT (p.Ser251_Ser254delinsLeuLeuProLeu)
17	g.80107617G>A	CA8815008	GAA	c.753G>A (p.Ser251=)	ClinVar dbSNP ExAC gnomAD v4
17	g.80107617G>C	CA502402622	GAA	c.753G>C (p.Ser251=)
17	g.80107617G=	CA2277812260	GAA	c.753G= (p.Ser251=)
17	g.80107617G>T	CA502402625	GAA	c.753G>T (p.Ser251=)	ClinVar dbSNP
17	g.80107618C>A	CA401363320	GAA	c.754C>A (p.Leu252Met)
17	g.80107618C=	CA2277812261	GAA	c.754C= (p.Leu252=)
17	g.80107618C>G	CA401363323	GAA	c.754C>G (p.Leu252Val)
17	g.80107618C>T	CA502402627	GAA	c.754C>T (p.Leu252=)	ClinVar dbSNP gnomAD v4
17	g.80107618dup	CA913014090	GAA	c.754dup (p.Leu252ProfsTer?)
17	g.80107619T>A	CA401363329	GAA	c.755T>A (p.Leu252Gln)
17	g.80107619T>C	CA401363327	GAA	c.755T>C (p.Leu252Pro)
17	g.80107619T>G	CA401363326	GAA	c.755T>G (p.Leu252Arg)
17	g.80107619dup	CA658824779	GAA	c.755dup (p.Pro253AlafsTer?)	ClinVar dbSNP
17	g.80107620G>A	CA502402628	GAA	c.756G>A (p.Leu252=)	ClinVar gnomAD v4
17	g.80107620G>C	CA502402629	GAA	c.756G>C (p.Leu252=)
17	g.80107620G>T	CA502402630	GAA	c.756G>T (p.Leu252=)
17	g.80107620_80107621delinsGC	CA2277812262	GAA	c.756_757delinsGC (p.Leu252=)
17	g.80107620_80107621insT	CA2695227070	GAA	c.756_757insT (p.Pro253SerfsTer?)
17	g.80107621C>A	CA401363333	GAA	c.757C>A (p.Pro253Thr)
17	g.80107621C>G	CA401363335	GAA	c.757C>G (p.Pro253Ala)
17	g.80107621C>T	CA401363337	GAA	c.757C>T (p.Pro253Ser)	ClinVar dbSNP gnomAD v4
17	g.80107623del	CA916082438	GAA	c.759del (p.Ser254ArgfsTer14)	ClinVar dbSNP gnomAD v4
17	g.80107622C>A	CA401363342	GAA	c.758C>A (p.Pro253His)	gnomAD v4
17	g.80107622C=	CA2277812263	GAA	c.758C= (p.Pro253=)
17	g.80107622C>G	CA401363344	GAA	c.758C>G (p.Pro253Arg)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107622C>T	CA401363346	GAA	c.758C>T (p.Pro253Leu)
17	g.80107623_80107627del	CA2499225002	GAA	c.759_763del (p.Ser254ValfsTer?)	dbSNP
17	g.80107623C>A	CA502402633	GAA	c.759C>A (p.Pro253=)
17	g.80107623C=	CA2277812264	GAA	c.759C= (p.Pro253=)
17	g.80107623C>G	CA502402634	GAA	c.759C>G (p.Pro253=)
17	g.80107623C>T	CA502402635	GAA	c.759C>T (p.Pro253=)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.80107624T>A	CA401363351	GAA	c.760T>A (p.Ser254Thr)
17	g.80107624T>C	CA401363355	GAA	c.760T>C (p.Ser254Pro)
17	g.80107624T>G	CA401363356	GAA	c.760T>G (p.Ser254Ala)
17	g.80107625C>A	CA401363360	GAA	c.761C>A (p.Ser254Ter)
17	g.80107625C=	CA2277812265	GAA	c.761C= (p.Ser254=)
17	g.80107625C>G	CA401363363	GAA	c.761C>G (p.Ser254Trp)	gnomAD v4
17	g.80107625C>T	CA8815009	GAA	c.761C>T (p.Ser254Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17	g.80107626G>A	CA8815010	GAA	c.762G>A (p.Ser254=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107626G>C	CA502402638	GAA	c.762G>C (p.Ser254=)	gnomAD v4
17	g.80107626G=	CA2277812266	GAA	c.762G= (p.Ser254=)
17	g.80107626G>T	CA502402639	GAA	c.762G>T (p.Ser254=)
17	g.80107627C>A	CA401363375	GAA	c.763C>A (p.Gln255Lys)
17	g.80107627C=	CA2277812267	GAA	c.763C= (p.Gln255=)
17	g.80107627C>G	CA401363373	GAA	c.763C>G (p.Gln255Glu)
17	g.80107627C>T	CA401363371	GAA	c.763C>T (p.Gln255Ter)	ClinVar dbSNP
17	g.80107628A=	CA2277812269	GAA	c.764A= (p.Gln255=)
17	g.80107628A>C	CA401363381	GAA	c.764A>C (p.Gln255Pro)
17	g.80107628A>G	CA401363379	GAA	c.764A>G (p.Gln255Arg)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.80107628A>T	CA401363384	GAA	c.764A>T (p.Gln255Leu)
17	g.80107628_80107647delinsAGTATATCACAGGCCTCGCC	CA2277812268	GAA	c.764_783delinsAGTATATCACAGGCCTCGCC (p.Gln255=)
17	g.80107629G>A	CA502402642	GAA	c.765G>A (p.Gln255=)	ClinVar dbSNP gnomAD v4
17	g.80107629G>C	CA401363387	GAA	c.765G>C (p.Gln255His)
17	g.80107629G=	CA2277812271	GAA	c.765G= (p.Gln255=)
17	g.80107629G>T	CA401363390	GAA	c.765G>T (p.Gln255His)	dbSNP gnomAD v2 gnomAD v4
17	g.80107630_80107648del	CA775511087	GAA	c.766_784del (p.Tyr256SerfsTer6)	dbSNP
17	g.80107629_80107649delinsGTATATCACAGGCCTCGCCGA	CA2277812270	GAA	c.765_785delinsGTATATCACAGGCCTCGCCGA (p.Gln255=)
17	g.80107630T>A	CA401363392	GAA	c.766T>A (p.Tyr256Asn)
17	g.80107630T>C	CA401363393	GAA	c.766T>C (p.Tyr256His)	gnomAD v4
17	g.80107630T>G	CA401363395	GAA	c.766T>G (p.Tyr256Asp)
17	g.80107630T=	CA2277812272	GAA	c.766T= (p.Tyr256=)
17	g.80107630_80107634del	CA986723296	GAA	c.766_770del (p.Tyr256HisfsTer?)	dbSNP gnomAD v3 gnomAD v4
17	g.80107630_80107649delinsC	CA274073	GAA	c.766_785delinsC (p.Tyr256ArgfsTer6)	ClinVar dbSNP
17	g.80107630_80107631insC	CA658824780	GAA	c.766_767insC (p.Tyr256SerfsTer?)	ClinVar dbSNP gnomAD v4
17	g.80107631A=	CA2277812273	GAA	c.767A= (p.Tyr256=)
17	g.80107631A>C	CA401363398	GAA	c.767A>C (p.Tyr256Ser)
17	g.80107631A>G	CA8815011	GAA	c.767A>G (p.Tyr256Cys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107631A>T	CA401363400	GAA	c.767A>T (p.Tyr256Phe)
17	g.80107631dup	CA913014092	GAA	c.767dup (p.Tyr256Ter)
17	g.80107632T>A	CA401363402	GAA	c.768T>A (p.Tyr256Ter)
17	g.80107632T>C	CA502402645	GAA	c.768T>C (p.Tyr256=)	dbSNP gnomAD v3 gnomAD v4
17	g.80107632T>G	CA401363403	GAA	c.768T>G (p.Tyr256Ter)	COSMIC
17	g.80107632T=	CA2277812274	GAA	c.768T= (p.Tyr256=)
17	g.80107632dup	CA502402648	GAA	c.768dup (p.Ile257TyrfsTer?)	ClinVar dbSNP
17	g.80107633A=	CA2277812275	GAA	c.769A= (p.Ile257=)
17	g.80107633A>C	CA401363404	GAA	c.769A>C (p.Ile257Leu)
17	g.80107633A>G	CA8815012	GAA	c.769A>G (p.Ile257Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107633A>T	CA401363407	GAA	c.769A>T (p.Ile257Phe)	gnomAD v4
17	g.80107634T>A	CA401363409	GAA	c.770T>A (p.Ile257Asn)
17	g.80107634T>C	CA401363412	GAA	c.770T>C (p.Ile257Thr)
17	g.80107634T>G	CA401363410	GAA	c.770T>G (p.Ile257Ser)
17	g.80107635C>A	CA502402652	GAA	c.771C>A (p.Ile257=)
17	g.80107635C>G	CA401363414	GAA	c.771C>G (p.Ile257Met)
17	g.80107635C>T	CA502402651	GAA	c.771C>T (p.Ile257=)
17	g.80107636A>C	CA401363416	GAA	c.772A>C (p.Thr258Pro)
17	g.80107636A>G	CA401363417	GAA	c.772A>G (p.Thr258Ala)
17	g.80107636A>T	CA401363419	GAA	c.772A>T (p.Thr258Ser)
17	g.80107636_80107649del	CA986723305	GAA	c.772_785del (p.Thr258AlafsTer?)	gnomAD v3 gnomAD v4
17	g.80107637C>A	CA401363421	GAA	c.773C>A (p.Thr258Lys)
17	g.80107637C=	CA2277812276	GAA	c.773C= (p.Thr258=)
17	g.80107637C>G	CA401363422	GAA	c.773C>G (p.Thr258Arg)	ClinVar dbSNP
17	g.80107637C>T	CA401363423	GAA	c.773C>T (p.Thr258Ile)	dbSNP gnomAD v2 gnomAD v4
17	g.80107638A=	CA2277812277	GAA	c.774A= (p.Thr258=)
17	g.80107638A>C	CA8815013	GAA	c.774A>C (p.Thr258=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80107638A>G	CA8815014	GAA	c.774A>G (p.Thr258=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80107638A>T	CA502402658	GAA	c.774A>T (p.Thr258=)	gnomAD v4
17	g.80107639G>A	CA401363432	GAA	c.775G>A (p.Gly259Ser)	ClinVar dbSNP
17	g.80107639G>C	CA401363430	GAA	c.775G>C (p.Gly259Arg)
17	g.80107639G>T	CA401363428	GAA	c.775G>T (p.Gly259Cys)
17	g.80107640G>A	CA401363434	GAA	c.776G>A (p.Gly259Asp)
17	g.80107640G>C	CA401363436	GAA	c.776G>C (p.Gly259Ala)
17	g.80107640G>T	CA401363437	GAA	c.776G>T (p.Gly259Val)
17	g.80107641C>A	CA502402660	GAA	c.777C>A (p.Gly259=)
17	g.80107641C=	CA2277812278	GAA	c.777C= (p.Gly259=)
17	g.80107641C>G	CA502402661	GAA	c.777C>G (p.Gly259=)	ClinVar
17	g.80107641C>T	CA502402662	GAA	c.777C>T (p.Gly259=)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.80107642C>A	CA401363438	GAA	c.778C>A (p.Leu260Ile)
17	g.80107642C>G	CA401363440	GAA	c.778C>G (p.Leu260Val)
17	g.80107642C>T	CA401363441	GAA	c.778C>T (p.Leu260Phe)
17	g.80107643T>A	CA401363443	GAA	c.779T>A (p.Leu260His)
17	g.80107643T>C	CA401363445	GAA	c.779T>C (p.Leu260Pro)
17	g.80107643T>G	CA401363447	GAA	c.779T>G (p.Leu260Arg)
17	g.80107644C>A	CA502402666	GAA	c.780C>A (p.Leu260=)
17	g.80107644C=	CA2277812279	GAA	c.780C= (p.Leu260=)
17	g.80107644C>G	CA502402667	GAA	c.780C>G (p.Leu260=)
17	g.80107644C>T	CA8815015	GAA	c.780C>T (p.Leu260=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107645G>A	CA8815016	GAA	c.781G>A (p.Ala261Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107645G>C	CA401363450	GAA	c.781G>C (p.Ala261Pro)	ClinVar dbSNP gnomAD v4
17	g.80107645G=	CA2277812280	GAA	c.781G= (p.Ala261=)
17	g.80107645G>T	CA401363452	GAA	c.781G>T (p.Ala261Ser)	gnomAD v4

Number of alleles fetched