Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.80104734_80107789del	CA658795223	GAA	c.148_859-11del	ClinVar
17	g.80107668_80107693delinsGCTCAGCACCAGCTGGACCAGGATCA	CA2277812302	GAA	c.804_829delinsGCTCAGCACCAGCTGGACCAGGATCA (p.Met268=)
17	g.80107670_80107694del	CA915952247	GAA	c.806_830del (p.Leu269ProfsTer?)	ClinVar dbSNP
17	g.80107678A>C	CA401363547	GAA	c.814A>C (p.Ser272Arg)
17	g.80107678A>G	CA401363545	GAA	c.814A>G (p.Ser272Gly)
17	g.80107678A>T	CA401363548	GAA	c.814A>T (p.Ser272Cys)
17	g.80107679G>A	CA401363550	GAA	c.815G>A (p.Ser272Asn)
17	g.80107679G>C	CA401363553	GAA	c.815G>C (p.Ser272Thr)
17	g.80107679G>T	CA401363555	GAA	c.815G>T (p.Ser272Ile)
17	g.80107680C>A	CA401363556	GAA	c.816C>A (p.Ser272Arg)
17	g.80107680C=	CA2277812309	GAA	c.816C= (p.Ser272=)
17	g.80107680C>G	CA401363558	GAA	c.816C>G (p.Ser272Arg)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.80107680C>T	CA502402697	GAA	c.816C>T (p.Ser272=)	ClinVar dbSNP
17	g.80107681T>A	CA401363559	GAA	c.817T>A (p.Trp273Arg)
17	g.80107681T>C	CA401363561	GAA	c.817T>C (p.Trp273Arg)
17	g.80107681T>G	CA401363563	GAA	c.817T>G (p.Trp273Gly)
17	g.80107682G>A	CA8815021	GAA	c.818G>A (p.Trp273Ter)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80107682G>C	CA401363565	GAA	c.818G>C (p.Trp273Ser)
17	g.80107682G=	CA2277812310	GAA	c.818G= (p.Trp273=)
17	g.80107682G>T	CA401363567	GAA	c.818G>T (p.Trp273Leu)	dbSNP gnomAD v4
17	g.80107683G>A	CA401363572	GAA	c.819G>A (p.Trp273Ter)
17	g.80107683G>C	CA401363569	GAA	c.819G>C (p.Trp273Cys)
17	g.80107683G>T	CA401363570	GAA	c.819G>T (p.Trp273Cys)
17	g.80107684A>C	CA401363574	GAA	c.820A>C (p.Thr274Pro)
17	g.80107684A>G	CA401363576	GAA	c.820A>G (p.Thr274Ala)
17	g.80107684A>T	CA401363577	GAA	c.820A>T (p.Thr274Ser)
17	g.80107685C>A	CA401363578	GAA	c.821C>A (p.Thr274Asn)
17	g.80107685C=	CA2277812311	GAA	c.821C= (p.Thr274=)
17	g.80107685C>G	CA401363580	GAA	c.821C>G (p.Thr274Ser)
17	g.80107685C>T	CA8815022	GAA	c.821C>T (p.Thr274Ile)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80107686C>A	CA502402698	GAA	c.822C>A (p.Thr274=)
17	g.80107686C>G	CA502402699	GAA	c.822C>G (p.Thr274=)
17	g.80107686C>T	CA502402700	GAA	c.822C>T (p.Thr274=)	ClinVar
17	g.80107687A>C	CA502402701	GAA	c.823A>C (p.Arg275=)
17	g.80107687A>G	CA401363583	GAA	c.823A>G (p.Arg275Gly)	gnomAD v4
17	g.80107687A>T	CA401363585	GAA	c.823A>T (p.Arg275Trp)
17	g.80107688G>A	CA401363587	GAA	c.824G>A (p.Arg275Lys)
17	g.80107688G>C	CA401363589	GAA	c.824G>C (p.Arg275Thr)	gnomAD v4
17	g.80107688G>T	CA401363590	GAA	c.824G>T (p.Arg275Met)
17	g.80107691_80107709del	CA658795238	GAA	c.827_845del (p.Ile276ThrfsTer?)	ClinVar dbSNP
17	g.80107689G>A	CA502402702	GAA	c.825G>A (p.Arg275=)
17	g.80107689G>C	CA401363591	GAA	c.825G>C (p.Arg275Ser)
17	g.80107689G>T	CA401363594	GAA	c.825G>T (p.Arg275Ser)
17	g.80107689_80107690del	CA2576413979	GAA	c.825_826del (p.Arg275SerfsTer?)
17	g.80107690A=	CA2277812312	GAA	c.826A= (p.Ile276=)
17	g.80107690A>C	CA401363596	GAA	c.826A>C (p.Ile276Leu)
17	g.80107690A>G	CA401363598	GAA	c.826A>G (p.Ile276Val)	ClinVar dbSNP gnomAD v4
17	g.80107690A>T	CA401363599	GAA	c.826A>T (p.Ile276Phe)	dbSNP gnomAD v2 gnomAD v4
17	g.80107691T>A	CA401363601	GAA	c.827T>A (p.Ile276Asn)
17	g.80107691T>C	CA401363603	GAA	c.827T>C (p.Ile276Thr)
17	g.80107691T>G	CA401363605	GAA	c.827T>G (p.Ile276Ser)
17	g.80107692C>A	CA502402703	GAA	c.828C>A (p.Ile276=)	dbSNP gnomAD v2 gnomAD v4
17	g.80107692C=	CA2277812313	GAA	c.828C= (p.Ile276=)
17	g.80107692C>G	CA401363607	GAA	c.828C>G (p.Ile276Met)
17	g.80107692C>T	CA502402704	GAA	c.828C>T (p.Ile276=)
17	g.80107693_80107694del	CA2580095271	GAA	c.829_830del (p.Thr277ProfsTer?)	ClinVar
17	g.80107693_80107715del	CA658795239	GAA	c.829_851del (p.Thr277AlafsTer?)
17	g.80107693del	CA2576413980	GAA	c.829del (p.Thr277ProfsTer?)
17	g.80107693A=	CA2277812314	GAA	c.829A= (p.Thr277=)
17	g.80107693A>C	CA401363609	GAA	c.829A>C (p.Thr277Pro)	dbSNP
17	g.80107693A>G	CA401363611	GAA	c.829A>G (p.Thr277Ala)	ClinVar
17	g.80107693A>T	CA401363613	GAA	c.829A>T (p.Thr277Ser)
17	g.80107694C>A	CA401363619	GAA	c.830C>A (p.Thr277Asn)
17	g.80107694C=	CA2277812315	GAA	c.830C= (p.Thr277=)
17	g.80107694C>G	CA401363617	GAA	c.830C>G (p.Thr277Ser)
17	g.80107694C>T	CA401363615	GAA	c.830C>T (p.Thr277Ile)	ClinVar dbSNP
17	g.80107696del	CA2695227071	GAA	c.832del (p.Leu278CysfsTer?)
17	g.80107695C>A	CA502402705	GAA	c.831C>A (p.Thr277=)
17	g.80107695C=	CA2277812316	GAA	c.831C= (p.Thr277=)
17	g.80107695C>G	CA294889703	GAA	c.831C>G (p.Thr277=)	dbSNP
17	g.80107695C>T	CA502402706	GAA	c.831C>T (p.Thr277=)
17	g.80107696C>A	CA401363621	GAA	c.832C>A (p.Leu278Met)
17	g.80107696C=	CA2277812317	GAA	c.832C= (p.Leu278=)
17	g.80107696C>G	CA401363622	GAA	c.832C>G (p.Leu278Val)
17	g.80107696C>T	CA502402707	GAA	c.832C>T (p.Leu278=)	dbSNP
17	g.80107696_80107697del	CA913184772	GAA	c.832_833del (p.Leu278ValfsTer?)
17	g.80107697T>A	CA401363625	GAA	c.833T>A (p.Leu278Gln)
17	g.80107697T>C	CA401363626	GAA	c.833T>C (p.Leu278Pro)
17	g.80107697T>G	CA401363628	GAA	c.833T>G (p.Leu278Arg)
17	g.80107698G>A	CA8815023	GAA	c.834G>A (p.Leu278=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107698G>C	CA502402708	GAA	c.834G>C (p.Leu278=)
17	g.80107698G=	CA2277812318	GAA	c.834G= (p.Leu278=)
17	g.80107698G>T	CA502402709	GAA	c.834G>T (p.Leu278=)
17	g.80107699T>A	CA401363631	GAA	c.835T>A (p.Trp279Arg)
17	g.80107699T>C	CA401363632	GAA	c.835T>C (p.Trp279Arg)
17	g.80107699T>G	CA401363635	GAA	c.835T>G (p.Trp279Gly)
17	g.80107700G>A	CA401363637	GAA	c.836G>A (p.Trp279Ter)	ClinVar dbSNP
17	g.80107700G>C	CA401363638	GAA	c.836G>C (p.Trp279Ser)
17	g.80107700G=	CA2277812319	GAA	c.836G= (p.Trp279=)
17	g.80107700G>T	CA401363640	GAA	c.836G>T (p.Trp279Leu)
17	g.80107701G>A	CA401363645	GAA	c.837G>A (p.Trp279Ter)
17	g.80107701G>C	CA401363644	GAA	c.837G>C (p.Trp279Cys)	dbSNP gnomAD v2
17	g.80107701G=	CA2277812320	GAA	c.837G= (p.Trp279=)
17	g.80107701G>T	CA401363642	GAA	c.837G>T (p.Trp279Cys)	ClinVar
17	g.80107702A>C	CA401363649	GAA	c.838A>C (p.Asn280His)
17	g.80107702A>G	CA401363647	GAA	c.838A>G (p.Asn280Asp)
17	g.80107702A>T	CA401363651	GAA	c.838A>T (p.Asn280Tyr)
17	g.80107703A=	CA2277812321	GAA	c.839A= (p.Asn280=)
17	g.80107703A>C	CA401363653	GAA	c.839A>C (p.Asn280Thr)
17	g.80107703A>G	CA401363655	GAA	c.839A>G (p.Asn280Ser)
17	g.80107703A>T	CA401363657	GAA	c.839A>T (p.Asn280Ile)
17	g.80107704C>A	CA401363659	GAA	c.840C>A (p.Asn280Lys)
17	g.80107704C=	CA2277812322	GAA	c.840C= (p.Asn280=)
17	g.80107704C>G	CA8815024	GAA	c.840C>G (p.Asn280Lys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80107704C>T	CA502402710	GAA	c.840C>T (p.Asn280=)
17	g.80107704_80107706dup	CA658683065	GAA	c.840_842dup (p.Arg281_Asp282insArg)	ClinVar dbSNP
17	g.80107705C>A	CA502402711	GAA	c.841C>A (p.Arg281=)	ClinVar
17	g.80107705C=	CA2277812323	GAA	c.841C= (p.Arg281=)
17	g.80107705C>G	CA401363661	GAA	c.841C>G (p.Arg281Gly)
17	g.80107705C>T	CA8815025	GAA	c.841C>T (p.Arg281Trp)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107706G>A	CA8815026	GAA	c.842G>A (p.Arg281Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107706G>C	CA401363665	GAA	c.842G>C (p.Arg281Pro)
17	g.80107706G=	CA2277812324	GAA	c.842G= (p.Arg281=)
17	g.80107706G>T	CA401363667	GAA	c.842G>T (p.Arg281Leu)
17	g.80107707G>A	CA502402712	GAA	c.843G>A (p.Arg281=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107707G>C	CA502402713	GAA	c.843G>C (p.Arg281=)
17	g.80107707G=	CA2277812325	GAA	c.843G= (p.Arg281=)
17	g.80107707G>T	CA502402714	GAA	c.843G>T (p.Arg281=)	gnomAD v4
17	g.80107708G>A	CA401363673	GAA	c.844G>A (p.Asp282Asn)	dbSNP gnomAD v2 gnomAD v4
17	g.80107708G>C	CA401363671	GAA	c.844G>C (p.Asp282His)	ClinVar
17	g.80107708G=	CA2277812326	GAA	c.844G= (p.Asp282=)
17	g.80107708G>T	CA401363669	GAA	c.844G>T (p.Asp282Tyr)	gnomAD v4
17	g.80107709A>C	CA401363674	GAA	c.845A>C (p.Asp282Ala)
17	g.80107709A>G	CA401363675	GAA	c.845A>G (p.Asp282Gly)
17	g.80107709A>T	CA401363678	GAA	c.845A>T (p.Asp282Val)
17	g.80107710C>A	CA401363680	GAA	c.846C>A (p.Asp282Glu)
17	g.80107710C=	CA2277812327	GAA	c.846C= (p.Asp282=)
17	g.80107710C>G	CA401363682	GAA	c.846C>G (p.Asp282Glu)
17	g.80107710C>T	CA294889707	GAA	c.846C>T (p.Asp282=)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.80107711C>A	CA401363684	GAA	c.847C>A (p.Leu283Ile)
17	g.80107711C>G	CA401363686	GAA	c.847C>G (p.Leu283Val)
17	g.80107711C>T	CA401363688	GAA	c.847C>T (p.Leu283Phe)	gnomAD v4
17	g.80107712T>A	CA401363689	GAA	c.848T>A (p.Leu283His)
17	g.80107712T>C	CA401363691	GAA	c.848T>C (p.Leu283Pro)
17	g.80107712T>G	CA401363693	GAA	c.848T>G (p.Leu283Arg)
17	g.80107713T>A	CA502402715	GAA	c.849T>A (p.Leu283=)
17	g.80107713T>C	CA502402716	GAA	c.849T>C (p.Leu283=)	ClinVar dbSNP
17	g.80107713T>G	CA502402717	GAA	c.849T>G (p.Leu283=)
17	g.80107714G>A	CA8815027	GAA	c.850G>A (p.Ala284Thr)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80107714G>C	CA401363697	GAA	c.850G>C (p.Ala284Pro)
17	g.80107714G=	CA2277812328	GAA	c.850G= (p.Ala284=)
17	g.80107714G>T	CA401363695	GAA	c.850G>T (p.Ala284Ser)
17	g.80107715C>A	CA401363699	GAA	c.851C>A (p.Ala284Glu)	ClinVar
17	g.80107715C=	CA2277812329	GAA	c.851C= (p.Ala284=)
17	g.80107715C>G	CA8815028	GAA	c.851C>G (p.Ala284Gly)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107715C>T	CA8815029	GAA	c.851C>T (p.Ala284Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107716G>A	CA198776	GAA	c.852G>A (p.Ala284=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107716G>C	CA502402718	GAA	c.852G>C (p.Ala284=)
17	g.80107716G=	CA2277812330	GAA	c.852G= (p.Ala284=)
17	g.80107716G>T	CA294889733	GAA	c.852G>T (p.Ala284=)	dbSNP gnomAD v4
17	g.80107717C>A	CA401363703	GAA	c.853C>A (p.Pro285Thr) c.853C>A
17	g.80107717C=	CA2277812331	GAA	c.853C= (p.Pro285=) c.853C=
17	g.80107717C>G	CA401363705	GAA	c.853C>G (p.Pro285Ala) c.853C>G
17	g.80107717C>T	CA10603793	GAA	c.853C>T (p.Pro285Ser) c.853C>T	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107718C>A	CA401363708	GAA	c.854C>A (p.Pro285His) c.854C>A
17	g.80107718C=	CA2277812332	GAA	c.854C= (p.Pro285=) c.854C=
17	g.80107718C>G	CA358045	GAA	c.854C>G (p.Pro285Arg) c.854C>G	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.80107718C>T	CA8815030	GAA	c.854C>T (p.Pro285Leu) c.854C>T	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80107719C>A	CA8815031	GAA	c.855C>A (p.Pro285=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107719C=	CA2277812333	GAA	c.855C= (p.Pro285=)
17	g.80107719C>G	CA502402719	GAA	c.855C>G (p.Pro285=)
17	g.80107719C>T	CA502402720	GAA	c.855C>T (p.Pro285=)	gnomAD v4
17	g.80107720del	CA2739268463	GAA	c.856del (p.Thr286ArgfsTer28)	ClinVar
17	g.80107720A>C	CA401363717	GAA	c.856A>C (p.Thr286Pro)
17	g.80107720A>G	CA401363715	GAA	c.856A>G (p.Thr286Ala)
17	g.80107720A>T	CA401363713	GAA	c.856A>T (p.Thr286Ser)
17	g.80107721C>A	CA401363719	GAA	c.857C>A (p.Thr286Lys)	dbSNP gnomAD v3 gnomAD v4
17	g.80107721C=	CA2277812334	GAA	c.857C= (p.Thr286=)
17	g.80107721C>G	CA401363722	GAA	c.857C>G (p.Thr286Arg)
17	g.80107721C>T	CA8815032	GAA	c.857C>T (p.Thr286Met)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107722G>A	CA294889742	GAA	c.858G>A (p.Thr286=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107722G>C	CA502402721	GAA	c.858G>C (p.Thr286=)
17	g.80107722G=	CA2277812335	GAA	c.858G= (p.Thr286=)
17	g.80107722G>T	CA502402722	GAA	c.858G>T (p.Thr286=)
17	g.80107723del	CA2640279897	GAA	c.858+1del	gnomAD v4
17	g.80107723G>A	CA401363726	GAA	c.858+1G>A (n.858+1G>A)	ClinVar
17	g.80107723G>C	CA401363727	GAA	c.858+1G>C (n.858+1G>C)
17	g.80107723G=	CA2277812336	GAA	c.858+1G= (n.858+1G=)
17	g.80107723G>T	CA401363729	GAA	c.858+1G>T (n.858+1G>T)	gnomAD v4
17	g.80107723_80107724insAGCGGGC	CA294889744	GAA	c.858+1_858+2insAGCGGGC (n.858+1_858+2insAGCGGGC)	dbSNP
17	g.80107724T>A	CA401363732	GAA	c.858+2T>A (n.858+2T>A)	ClinVar dbSNP
17	g.80107724T>C	CA401363734	GAA	c.858+2T>C (n.858+2T>C)
17	g.80107724T>G	CA401363736	GAA	c.858+2T>G (n.858+2T>G)
17	g.80107724T=	CA2277812337	GAA	c.858+2T= (n.858+2T=)
17	g.80107725A=	CA2277812338	GAA	c.858+3A= (n.858+3A=)
17	g.80107725_80107726insGAG	CA8815033	GAA	c.858+3_858+4insGAG (n.858+3_858+4insGAG)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80107726C=	CA2277812339	GAA	c.858+4C= (n.858+4C=)
17	g.80107726C>G	CA10604590	GAA	c.858+4C>G (n.858+4C>G)	ClinVar dbSNP
17	g.80107727A=	CA2277812341	GAA	c.858+5A= (n.858+5A=)
17	g.80107727A>G	CA2277812342	GAA	c.858+5A>G (n.858+5A>G)	ClinVar dbSNP gnomAD v4
17	g.80107729_80107730insAGCGAGC	CA2734096656	GAA	c.858+7_858+8insAGCGAGC (n.858+7_858+8insAGCGAGC)	dbSNP
17	g.80107727_80107733delinsAGCGGCG	CA2277812340	GAA	c.858+5_858+11delinsAGCGGCG (n.858+5_858+11delinsAGCGGCG)
17	g.80107727_80107733dup	CA2277812344	GAA	c.858+5_858+11dup (n.858+5_858+11dup)	ClinVar dbSNP
17	g.80107727_80107734delinsAGCGGCGG	CA2277812343	GAA	c.858+5_858+12delinsAGCGGCGG (n.858+5_858+12delinsAGCGGCGG)
17	g.80107727_80107728insACAGCGG	CA2640279962	GAA	c.858+5_858+6insACAGCGG (n.858+5_858+6insACAGCGG)	gnomAD v4
17	g.80107728G>A	CA658795240	GAA	c.858+6G>A (n.858+6G>A)
17	g.80107728G=	CA2277812345	GAA	c.858+6G= (n.858+6G=)
17	g.80107728G>T	CA8815039	GAA	c.858+6G>T (n.858+6G>T)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80107728_80107729insGCAGCGG	CA294889789	GAA	c.858+6_858+7insGCAGCGG (n.858+6_858+7insGCAGCGG)	dbSNP
17	g.80107728_80107729insTAGCGGG	CA2576413981	GAA	c.858+6_858+7insTAGCGGG (n.858+6_858+7insTAGCGGG)
17	g.80107729_80107730insAATGGGC	CA2640279941	GAA	c.858+7_858+8insAATGGGC (n.858+7_858+8insAATGGGC)	gnomAD v4
17	g.80107729_80107730insACCGGGC	CA2499225003	GAA	c.858+7_858+8insACCGGGC (n.858+7_858+8insACCGGGC)	ClinVar dbSNP
17	g.80107729_80107730insAGCAGGC	CA8815037	GAA	c.858+7_858+8insAGCAGGC (n.858+7_858+8insAGCAGGC)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107729_80107730insAGCGGGC	CA145794	GAA	c.858+7_858+8insAGCGGGC (n.858+7_858+8insAGCGGGC)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107729_80107730insAGTGGGC	CA8815036	GAA	c.858+7_858+8insAGTGGGC (n.858+7_858+8insAGTGGGC)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107729_80107730insAGCGGGCAGCGGGC	CA2580095280	GAA	c.858+7_858+8insAGCGGGCAGCGGGC (n.858+7_858+8insAGCGGGCAGCGGGC)	ClinVar
17	g.80107729_80107730insAGCGGGCGGCGGGC	CA8815035	GAA	c.858+7_858+8insAGCGGGCGGCGGGC (n.858+7_858+8insAGCGGGCGGCGGGC)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107729_80107730insAGCGGGTGGCGGGC	CA915952248	GAA	c.858+7_858+8insAGCGGGTGGCGGGC (n.858+7_858+8insAGCGGGTGGCGGGC)	ClinVar dbSNP
17	g.80107729_80107730insAGCGGGCGGCGGGCGGCGGGC	CA628018323	GAA	c.858+7_858+8insAGCGGGCGGCGGGCGGCGGGC (n.858+7_858+8insAGCGGGCGGCGGGCGGCGGGC)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107729_80107730insAGCGGGCGGCGAGCAGCGGGC	CA2640279956	GAA	c.858+7_858+8insAGCGGGCGGCGAGCAGCGGGC (n.858+7_858+8insAGCGGGCGGCGAGCAGCGGGC)	gnomAD v4
17	g.80107729_80107730insAGCGGGCGGCGGGCAGCGGGC	CA915952249	GAA	c.858+7_858+8insAGCGGGCGGCGGGCAGCGGGC (n.858+7_858+8insAGCGGGCGGCGGGCAGCGGGC)	ClinVar dbSNP gnomAD v4
17	g.80107728_80107731dup	CA2640279947	GAA	c.858+6_858+9dup (n.858+6_858+9dup)	gnomAD v4
17	g.80107728_80107733delinsAGCGGGC	CA919905406	GAA	c.858+6_858+11delinsAGCGGGC (n.858+6_858+11delinsAGCGGGC)	dbSNP
17	g.80107739_80107745dup	CA180075	GAA	c.858+17_858+23dup (n.858+17_858+23dup)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107739_80107745del	CA8815034	GAA	c.858+17_858+23del (n.858+17_858+23del)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107729C=	CA2277812346	GAA	c.858+7C= (n.858+7C=)
17	g.80107729C>T	CA294889796	GAA	c.858+7C>T (n.858+7C>T)	dbSNP gnomAD v3 gnomAD v4
17	g.80107729_80107730insAGCGGAC	CA8815038	GAA	c.858+7_858+8insAGCGGAC (n.858+7_858+8insAGCGGAC)	dbSNP ExAC
17	g.80107729_80107730insAGCGGTC	CA2733929470	GAA	c.858+7_858+8insAGCGGTC (n.858+7_858+8insAGCGGTC)	dbSNP
17	g.80107729_80107732delinsCGGC	CA2277812347	GAA	c.858+7_858+10delinsCGGC (n.858+7_858+10delinsCGGC)
17	g.80107729_80107730insA	CA628018324	GAA	c.858+7_858+8insA (n.858+7_858+8insA)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107729_80107730insAGCG	CA8815040	GAA	c.858+7_858+8insAGCG (n.858+7_858+8insAGCG)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107729_80107730insAGCGGGA	CA2733929157	GAA	c.858+7_858+8insAGCGGGA (n.858+7_858+8insAGCGGGA)	dbSNP
17	g.80107729_80107730insAGCGGGG	CA2733929158	GAA	c.858+7_858+8insAGCGGGG (n.858+7_858+8insAGCGGGG)	dbSNP
17	g.80107729_80107730insAGCGGGT	CA8815041	GAA	c.858+7_858+8insAGCGGGT (n.858+7_858+8insAGCGGGT)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107729_80107730insAGCGGTA	CA2733929160	GAA	c.858+7_858+8insAGCGGTA (n.858+7_858+8insAGCGGTA)	dbSNP
17	g.80107729_80107730insAGGGGGG	CA2733929159	GAA	c.858+7_858+8insAGGGGGG (n.858+7_858+8insAGGGGGG)	dbSNP
17	g.80107730G>A	CA152922	GAA	c.858+8G>A (n.858+8G>A)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17	g.80107730G=	CA2277812348	GAA	c.858+8G= (n.858+8G=)
17	g.80107730G>T	CA2640279974	GAA	c.858+8G>T (n.858+8G>T)	gnomAD v4
17	g.80107730_80107732delinsAGCGGGCGGT	CA658798977	GAA	c.858+8_858+10delinsAGCGGGCGGT (n.858+8_858+10delinsAGCGGGCGGT)	ClinVar dbSNP
17	g.80107730_80107731insCGGGCA	CA628018325	GAA	c.858+8_858+9insCGGGCA (n.858+8_858+9insCGGGCA)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107731G>A	CA2580095282	GAA	c.858+9G>A (n.858+9G>A)	ClinVar gnomAD v4
17	g.80107732C>A	CA8815043	GAA	c.858+10C>A (n.858+10C>A)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80107732C=	CA2277812349	GAA	c.858+10C= (n.858+10C=)
17	g.80107732C>T	CA8815044	GAA	c.858+10C>T (n.858+10C>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80107733G>A	CA628018326	GAA	c.858+11G>A (n.858+11G>A)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107733G=	CA2277812350	GAA	c.858+11G= (n.858+11G=)
17	g.80107734_80107735insTGG	CA8815042	GAA	c.858+12_858+13insTGG (n.858+12_858+13insTGG)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107734G>A	CA2640280003	GAA	c.858+12G>A (n.858+12G>A)	gnomAD v4
17	g.80107734G>C	CA775511394	GAA	c.858+12G>C (n.858+12G>C)	ClinVar dbSNP
17	g.80107734G=	CA2277812351	GAA	c.858+12G= (n.858+12G=)
17	g.80107734_80107735insCG	CA2810576424	GAA	c.858+12_858+13insCG (n.858+12_858+13insCG)
17	g.80107734_80107735insCAG	CA8815045	GAA	c.858+12_858+13insCAG (n.858+12_858+13insCAG)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107736C=	CA2277812352	GAA	c.858+14C= (n.858+14C=)
17	g.80107736C>T	CA8815046	GAA	c.858+14C>T (n.858+14C>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107737G>A	CA8815047	GAA	c.858+15G>A (n.858+15G>A)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107737G=	CA2277812353	GAA	c.858+15G= (n.858+15G=)
17	g.80107739C=	CA2277812354	GAA	c.858+17C= (n.858+17C=)
17	g.80107739C>G	CA2640280014	GAA	c.858+17C>G (n.858+17C>G)	gnomAD v4
17	g.80107739C>T	CA8815048	GAA	c.858+17C>T (n.858+17C>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107740G>A	CA8815049	GAA	c.858+18G>A (n.858+18G>A)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107740G=	CA2277812355	GAA	c.858+18G= (n.858+18G=)
17	g.80107741G>A	CA775511406	GAA	c.858+19G>A (n.858+19G>A)	dbSNP
17	g.80107741G=	CA2277812356	GAA	c.858+19G= (n.858+19G=)
17	g.80107741G>T	CA628018338	GAA	c.858+19G>T (n.858+19G>T)	ClinVar dbSNP gnomAD v2
17	g.80107742G>A	CA656889642	GAA	c.858+20G>A (n.858+20G>A)	COSMIC
17	g.80107742G>T	CA2739268464	GAA	c.858+20G>T (n.858+20G>T)	ClinVar
17	g.80107743C=	CA2277812357	GAA	c.858+21C= (n.858+21C=)
17	g.80107743C>G	CA658795241	GAA	c.858+21C>G (n.858+21C>G)
17	g.80107743C>T	CA8815050	GAA	c.858+21C>T (n.858+21C>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107745_80107746insCGGTCGG	CA2640280024	GAA	c.858+23_858+24insCGGTCGG (n.858+23_858+24insCGGTCGG)	gnomAD v4
17	g.80107744G>A	CA8815051	GAA	c.858+22G>A (n.858+22G>A)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107744G=	CA2277812358	GAA	c.858+22G= (n.858+22G=)
17	g.80107745G>A	CA775511417	GAA	c.858+23G>A (n.858+23G>A)	dbSNP gnomAD v3 gnomAD v4
17	g.80107745G=	CA2277812359	GAA	c.858+23G= (n.858+23G=)
17	g.80107745G>T	CA8815053	GAA	c.858+23G>T (n.858+23G>T)	dbSNP ExAC
17	g.80107745_80107746insCGGGCG	CA2640280029	GAA	c.858+23_858+24insCGGGCG (n.858+23_858+24insCGGGCG)	dbSNP gnomAD v4
17	g.80107746_80107747insCGGGCGG	CA502402723	GAA	c.858+24_858+25insCGGGCGG (n.858+24_858+25insCGGGCGG)
17	g.80107745_80107746insC	CA8815052	GAA	c.858+23_858+24insC (n.858+23_858+24insC)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80107746G>A	CA2640280032	GAA	c.858+24G>A (n.858+24G>A)	gnomAD v4
17	g.80107746G>C	CA8815054	GAA	c.858+24G>C (n.858+24G>C)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
17	g.80107746G=	CA2277812360	GAA	c.858+24G= (n.858+24G=)
17	g.80107747G>A	CA2576413982	GAA	c.858+25G>A (n.858+25G>A)
17	g.80107747G=	CA2277812361	GAA	c.858+25G= (n.858+25G=)
17	g.80107747G>T	CA628018339	GAA	c.858+25G>T (n.858+25G>T)	dbSNP gnomAD v2 gnomAD v4
17	g.80107747_80107749dup	CA8815055	GAA	c.858+25_858+27dup (n.858+25_858+27dup)	dbSNP ExAC
17	g.80107748G>A	CA8815056	GAA	c.858+26G>A (n.858+26G>A)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107748G>C	CA2810576427	GAA	c.858+26G>C (n.858+26G>C)
17	g.80107748G=	CA2277812362	GAA	c.858+26G= (n.858+26G=)
17	g.80107748G>T	CA8815057	GAA	c.858+26G>T (n.858+26G>T)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80107750A=	CA2277812363	GAA	c.858+28A= (n.858+28A=)
17	g.80107750A>C	CA8815059	GAA	c.858+28A>C (n.858+28A>C)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80107750A>G	CA8815058	GAA	c.858+28A>G (n.858+28A>G)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107751C=	CA2277812364	GAA	c.858+29C= (n.858+29C=)
17	g.80107751C>G	CA8815060	GAA	c.858+29C>G (n.858+29C>G)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107751C>T	CA2576413983	GAA	c.858+29C>T (n.858+29C>T)	gnomAD v4
17	g.80107752T>A	CA2277812366	GAA	c.858+30T>A (n.858+30T>A)	dbSNP
17	g.80107752T>C	CA180076	GAA	c.858+30T>C (n.858+30T>C)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107752T>G	CA2277812365	GAA	c.858+30T>G (n.858+30T>G)	dbSNP
17	g.80107752T=	CA2277812367	GAA	c.858+30T= (n.858+30T=)
17	g.80107753G>A	CA8815061	GAA	c.858+31G>A (n.858+31G>A)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107753G=	CA2277812368	GAA	c.858+31G= (n.858+31G=)
17	g.80107753G>T	CA502402724	GAA	c.858+31G>T (n.858+31G>T)
17	g.80107755G>A	CA8815062	GAA	c.858+33G>A (n.858+33G>A)	dbSNP ExAC
17	g.80107755G=	CA2277812369	GAA	c.858+33G= (n.858+33G=)
17	g.80107757T>A	CA986705217	GAA	c.858+35T>A (n.858+35T>A)	dbSNP gnomAD v3 gnomAD v4
17	g.80107757T=	CA2277812370	GAA	c.858+35T= (n.858+35T=)
17	g.80107758G>A	CA2640280057	GAA	c.858+36G>A (n.858+36G>A)	gnomAD v4
17	g.80107761G>A	CA628018340	GAA	c.859-39G>A (n.859-39G>A)	dbSNP gnomAD v2
17	g.80107761G=	CA2277812371	GAA	c.859-39G= (n.859-39G=)
17	g.80107761G>T	CA986705219	GAA	c.859-39G>T (n.859-39G>T)	gnomAD v3 gnomAD v4
17	g.80107763G>A	CA628018341	GAA	c.859-37G>A (n.859-37G>A)	dbSNP gnomAD v2 gnomAD v4
17	g.80107763G=	CA2277812372	GAA	c.859-37G= (n.859-37G=)
17	g.80107764C=	CA2277812373	GAA	c.859-36C= (n.859-36C=)
17	g.80107764C>G	CA294889874	GAA	c.859-36C>G (n.859-36C>G)	dbSNP gnomAD v3 gnomAD v4
17	g.80107764C>T	CA8815063	GAA	c.859-36C>T (n.859-36C>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107765G>A	CA8815064	GAA	c.859-35G>A (n.859-35G>A)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107765G=	CA2277812374	GAA	c.859-35G= (n.859-35G=)
17	g.80107766C>T	CA2576413984	GAA	c.859-34C>T (n.859-34C>T)
17	g.80107768G>A	CA628018342	GAA	c.859-32G>A (n.859-32G>A)	dbSNP gnomAD v2
17	g.80107768G=	CA2277812375	GAA	c.859-32G= (n.859-32G=)
17	g.80107769G>A	CA294889883	GAA	c.859-31G>A (n.859-31G>A)	dbSNP gnomAD v3 gnomAD v4
17	g.80107769G=	CA2277812376	GAA	c.859-31G= (n.859-31G=)
17	g.80107770T>A	CA2277812378	GAA	c.859-30T>A (n.859-30T>A)	dbSNP
17	g.80107770T=	CA2277812377	GAA	c.859-30T= (n.859-30T=)
17	g.80107771G>T	CA2640280068	GAA	c.859-29G>T (n.859-29G>T)	gnomAD v4
17	g.80107771_80107772delinsGC	CA2277812379	GAA	c.859-29_859-28delinsGC (n.859-29_859-28delinsGC)
17	g.80107772del	CA628018343	GAA	c.859-28del (n.859-28del)	dbSNP gnomAD v2 gnomAD v4
17	g.80107773T>A	CA2640280072	GAA	c.859-27T>A (n.859-27T>A)	gnomAD v4
17	g.80107773T>C	CA2640280073	GAA	c.859-27T>C (n.859-27T>C)	gnomAD v4
17	g.80107774G>A	CA2576413985	GAA	c.859-26G>A (n.859-26G>A)	gnomAD v4
17	g.80107776A=	CA2277812380	GAA	c.859-24A= (n.859-24A=)
17	g.80107776A>C	CA2277812381	GAA	c.859-24A>C (n.859-24A>C)	dbSNP
17	g.80107776A>T	CA2640280074	GAA	c.859-24A>T (n.859-24A>T)	dbSNP gnomAD v4
17	g.80107778C=	CA2277812382	GAA	c.859-22C= (n.859-22C=)
17	g.80107778C>T	CA8815065	GAA	c.859-22C>T (n.859-22C>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched