Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.80108679_80116948del	CA913184754	GAA	c.1195-18_2190-20del c.1195-18_*328-20del
17	g.80108678_80116951del	CA658795244	GAA	c.1195-19_2190-17del c.1195-19_*328-17del	ClinVar
17	g.80111485_80118678del	CA10654926	GAA	c.1636+460_2672del c.1636+460_*810del	ClinVar
17	g.80112099_80118805del	CA913184762	GAA	c.1753_2799del c.1753_*937del
17	g.80113223_80113241delinsGGAGCCGTACAGCTTCAGC	CA2277815406	GAA	c.2046_2064delinsGGAGCCGTACAGCTTCAGC (p.Gln682=) c.184_202delinsGGAGCCGTACAGCTTCAGC (n.184_202delinsGGAGCCGTACAGCTTCAGC) n.486_504delinsGGAGCCGTACAGCTTCAGC c.465_483delinsGGAGCCGTACAGCTTCAGC
17	g.80113224_80113242del	CA913014062	GAA	c.2047_2065del (p.Glu683SerfsTer7) c.185_203del (n.185_203del) n.487_505del c.466_484del
17	g.80113230_80113247del	CA658824787	GAA	c.2053_2070del (p.Tyr685_Pro690del) c.191_208del (n.191_208del) n.493_510del c.472_489del	ClinVar dbSNP
17	g.80113236_80113254dup	CA2598862218	GAA	c.2059_2077dup (p.Gln693LeufsTer?) c.197_215dup (n.197_215dup) n.499_517dup c.478_496dup	dbSNP gnomAD v3 gnomAD v4
17	g.80113239A=	CA2277815422	GAA	c.2062A= (p.Ser688=) c.200A= (n.200A=) n.502A= c.481A=
17	g.80113239A>C	CA401370403	GAA	c.2062A>C (p.Ser688Arg) c.200A>C (n.200A>C) n.502A>C c.481A>C
17	g.80113239A>G	CA401370401	GAA	c.2062A>G (p.Ser688Gly) c.200A>G (n.200A>G) n.502A>G c.481A>G	dbSNP gnomAD v4
17	g.80113239A>T	CA401370398	GAA	c.2062A>T (p.Ser688Cys) c.200A>T (n.200A>T) n.502A>T c.481A>T
17	g.80113240G>A	CA401370406	GAA	c.2063G>A (p.Ser688Asn) c.201G>A (n.201G>A) n.503G>A c.482G>A	dbSNP gnomAD v2 gnomAD v4
17	g.80113240G>C	CA401370410	GAA	c.2063G>C (p.Ser688Thr) c.201G>C (n.201G>C) n.503G>C c.482G>C
17	g.80113240G=	CA2277815425	GAA	c.2063G= (p.Ser688=) c.201G= (n.201G=) n.503G= c.482G=
17	g.80113240G>T	CA401370408	GAA	c.2063G>T (p.Ser688Ile) c.201G>T (n.201G>T) n.503G>T c.482G>T	dbSNP gnomAD v3 gnomAD v4
17	g.80113241C>A	CA8815603	GAA	c.2064C>A (p.Ser688Arg) c.202C>A (n.202C>A) n.504C>A c.483C>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80113241C=	CA2277815430	GAA	c.2064C= (p.Ser688=) c.202C= (n.202C=) n.504C= c.483C=
17	g.80113241C>G	CA8815604	GAA	c.2064C>G (p.Ser688Arg) c.202C>G (n.202C>G) n.504C>G c.483C>G	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80113241C>T	CA8815602	GAA	c.2064C>T (p.Ser688=) c.202C>T (n.202C>T) n.504C>T c.483C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80113243_80113247dup	CA220395	GAA	c.2066_2070dup (p.Ala691SerfsTer7) c.204_208dup (n.204_208dup) n.506_510dup c.485_489dup	ClinVar dbSNP
17	g.80113242G>A	CA116612	GAA	c.2065G>A (p.Glu689Lys) c.203G>A (n.203G>A) n.505G>A c.484G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80113242G>C	CA401370419	GAA	c.2065G>C (p.Glu689Gln) c.203G>C (n.203G>C) n.505G>C c.484G>C	dbSNP gnomAD v2 gnomAD v4
17	g.80113242G=	CA2277815432	GAA	c.2065G= (p.Glu689=) c.203G= (n.203G=) n.505G= c.484G=
17	g.80113242G>T	CA401370421	GAA	c.2065G>T (p.Glu689Ter) c.203G>T (n.203G>T) n.505G>T c.484G>T	gnomAD v4
17	g.80113243A=	CA2277815434	GAA	c.2066A= (p.Glu689=) c.204A= (n.204A=) n.506A= c.485A=
17	g.80113243A>C	CA401370422	GAA	c.2066A>C (p.Glu689Ala) c.204A>C (n.204A>C) n.506A>C c.485A>C
17	g.80113243A>G	CA8815605	GAA	c.2066A>G (p.Glu689Gly) c.204A>G (n.204A>G) n.506A>G c.485A>G	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80113243A>T	CA401370423	GAA	c.2066A>T (p.Glu689Val) c.204A>T (n.204A>T) n.506A>T c.485A>T
17	g.80113243_80113246del	CA2580612684	GAA	c.2066_2069del (p.Glu689GlyfsTer6) c.204_207del (n.204_207del) n.506_509del c.485_488del	ClinVar
17	g.80113244G>A	CA502179126	GAA	c.2067G>A (p.Glu689=) c.205G>A (n.205G>A) n.507G>A c.486G>A	dbSNP gnomAD v3 gnomAD v4
17	g.80113244G>C	CA401370424	GAA	c.2067G>C (p.Glu689Asp) c.205G>C (n.205G>C) n.507G>C c.486G>C
17	g.80113244G=	CA2277815436	GAA	c.2067G= (p.Glu689=) c.205G= (n.205G=) n.507G= c.486G=
17	g.80113244G>T	CA401370425	GAA	c.2067G>T (p.Glu689Asp) c.205G>T (n.205G>T) n.507G>T c.486G>T	gnomAD v4
17	g.80113245C>A	CA401370426	GAA	c.2068C>A (p.Pro690Thr) c.206C>A (n.206C>A) n.508C>A c.487C>A
17	g.80113245C>G	CA401370428	GAA	c.2068C>G (p.Pro690Ala) c.206C>G (n.206C>G) n.508C>G c.487C>G
17	g.80113245C>T	CA401370427	GAA	c.2068C>T (p.Pro690Ser) c.206C>T (n.206C>T) n.508C>T c.487C>T	gnomAD v4
17	g.80113246C>A	CA401370429	GAA	c.2069C>A (p.Pro690Gln) c.207C>A (n.207C>A) n.509C>A c.488C>A	gnomAD v4
17	g.80113246C=	CA2277815437	GAA	c.2069C= (p.Pro690=) c.207C= (n.207C=) n.509C= c.488C=
17	g.80113246C>G	CA401370430	GAA	c.2069C>G (p.Pro690Arg) c.207C>G (n.207C>G) n.509C>G c.488C>G	dbSNP gnomAD v2 gnomAD v4
17	g.80113246C>T	CA8815606	GAA	c.2069C>T (p.Pro690Leu) c.207C>T (n.207C>T) n.509C>T c.488C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80113247G>A	CA8815607	GAA	c.2070G>A (p.Pro690=) c.208G>A (n.208G>A) n.510G>A c.489G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80113247G>C	CA502179133	GAA	c.2070G>C (p.Pro690=) c.208G>C (n.208G>C) n.510G>C c.489G>C	ClinVar gnomAD v4
17	g.80113247G=	CA2277815439	GAA	c.2070G= (p.Pro690=) c.208G= (n.208G=) n.510G= c.489G=
17	g.80113247G>T	CA502179130	GAA	c.2070G>T (p.Pro690=) c.208G>T (n.208G>T) n.510G>T c.489G>T	gnomAD v4
17	g.80113248G>A	CA401370431	GAA	c.2071G>A (p.Ala691Thr) c.209G>A (n.209G>A) n.511G>A c.490G>A	dbSNP gnomAD v3 gnomAD v4
17	g.80113248G>C	CA401370432	GAA	c.2071G>C (p.Ala691Pro) c.209G>C (n.209G>C) n.511G>C c.490G>C
17	g.80113248G=	CA2277815441	GAA	c.2071G= (p.Ala691=) c.209G= (n.209G=) n.511G= c.490G=
17	g.80113248G>T	CA401370433	GAA	c.2071G>T (p.Ala691Ser) c.209G>T (n.209G>T) n.511G>T c.490G>T	dbSNP gnomAD v2 gnomAD v4
17	g.80113249C>A	CA401370434	GAA	c.2072C>A (p.Ala691Asp) c.210C>A (n.210C>A) n.512C>A c.491C>A	gnomAD v4
17	g.80113249C>G	CA401370435	GAA	c.2072C>G (p.Ala691Gly) c.210C>G (n.210C>G) n.512C>G c.491C>G
17	g.80113249C>T	CA401370436	GAA	c.2072C>T (p.Ala691Val) c.210C>T (n.210C>T) n.512C>T c.491C>T	gnomAD v4
17	g.80113250C>A	CA502179140	GAA	c.2073C>A (p.Ala691=) c.211C>A (n.211C>A) n.513C>A c.492C>A	gnomAD v4
17	g.80113250C>G	CA502179137	GAA	c.2073C>G (p.Ala691=) c.211C>G (n.211C>G) n.513C>G c.492C>G
17	g.80113250C>T	CA502179138	GAA	c.2073C>T (p.Ala691=) c.211C>T (n.211C>T) n.513C>T c.492C>T
17	g.80113251C>A	CA401370438	GAA	c.2074C>A (p.Gln692Lys) c.212C>A (n.212C>A) n.514C>A c.493C>A	gnomAD v4
17	g.80113251C=	CA2277815443	GAA	c.2074C= (p.Gln692=) c.212C= (n.212C=) n.514C= c.493C=
17	g.80113251C>G	CA401370439	GAA	c.2074C>G (p.Gln692Glu) c.212C>G (n.212C>G) n.514C>G c.493C>G
17	g.80113251C>T	CA401370437	GAA	c.2074C>T (p.Gln692Ter) c.212C>T (n.212C>T) n.514C>T c.493C>T	ClinVar dbSNP gnomAD v4
17	g.80113252A>C	CA401370440	GAA	c.2075A>C (p.Gln692Pro) c.213A>C (n.213A>C) n.515A>C c.494A>C
17	g.80113252A>G	CA401370441	GAA	c.2075A>G (p.Gln692Arg) c.213A>G (n.213A>G) n.515A>G c.494A>G	gnomAD v4
17	g.80113252A>T	CA401370442	GAA	c.2075A>T (p.Gln692Leu) c.213A>T (n.213A>T) n.515A>T c.494A>T
17	g.80113253G>A	CA502179142	GAA	c.2076G>A (p.Gln692=) c.214G>A (n.214G>A) n.516G>A c.495G>A	gnomAD v4
17	g.80113253G>C	CA401370443	GAA	c.2076G>C (p.Gln692His) c.214G>C (n.214G>C) n.516G>C c.495G>C
17	g.80113253G>T	CA401370444	GAA	c.2076G>T (p.Gln692His) c.214G>T (n.214G>T) n.516G>T c.495G>T	gnomAD v4
17	g.80113254C>A	CA401370445	GAA	c.2077C>A (p.Gln693Lys) c.215C>A (n.215C>A) n.517C>A c.496C>A	ClinVar dbSNP gnomAD v4
17	g.80113254C=	CA2277815444	GAA	c.2077C= (p.Gln693=) c.215C= (n.215C=) n.517C= c.496C=
17	g.80113254C>G	CA401370446	GAA	c.2077C>G (p.Gln693Glu) c.215C>G (n.215C>G) n.517C>G c.496C>G	dbSNP gnomAD v4
17	g.80113254C>T	CA401370447	GAA	c.2077C>T (p.Gln693Ter) c.215C>T (n.215C>T) n.517C>T c.496C>T	gnomAD v4
17	g.80113255A=	CA2277815446	GAA	c.2078A= (p.Gln693=) c.216A= (n.216A=) n.518A= c.497A=
17	g.80113255A>C	CA401370448	GAA	c.2078A>C (p.Gln693Pro) c.216A>C (n.216A>C) n.518A>C c.497A>C
17	g.80113255A>G	CA8815608	GAA	c.2078A>G (p.Gln693Arg) c.216A>G (n.216A>G) n.518A>G c.497A>G	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80113255A>T	CA401370449	GAA	c.2078A>T (p.Gln693Leu) c.216A>T (n.216A>T) n.518A>T c.497A>T
17	g.80113255dup	CA273685	GAA	c.2078dup (p.Ala694GlyfsTer?) c.216dup (n.216dup) n.518dup c.497dup	ClinVar dbSNP
17	g.80113256G>A	CA502179146	GAA	c.2079G>A (p.Gln693=) c.217G>A (n.217G>A) n.519G>A c.498G>A
17	g.80113256G>C	CA401370450	GAA	c.2079G>C (p.Gln693His) c.217G>C (n.217G>C) n.519G>C c.498G>C	dbSNP gnomAD v4
17	g.80113256G>T	CA401370451	GAA	c.2079G>T (p.Gln693His) c.217G>T (n.217G>T) n.519G>T c.498G>T	gnomAD v4
17	g.80113257G>A	CA401370454	GAA	c.2080G>A (p.Ala694Thr) c.218G>A (n.218G>A) n.520G>A c.499G>A	gnomAD v4
17	g.80113257G>C	CA401370453	GAA	c.2080G>C (p.Ala694Pro) c.218G>C (n.218G>C) n.520G>C c.499G>C
17	g.80113257G>T	CA401370452	GAA	c.2080G>T (p.Ala694Ser) c.218G>T (n.218G>T) n.520G>T c.499G>T	gnomAD v4
17	g.80113257_80113258delinsGC	CA2277815447	GAA	c.2080_2081delinsGC (p.Ala694=) c.218_219delinsGC (n.218_219delinsGC) n.520_521delinsGC c.499_500delinsGC
17	g.80113258C>A	CA401370455	GAA	c.2081C>A (p.Ala694Asp) c.219C>A (n.219C>A) n.521C>A c.500C>A	gnomAD v4
17	g.80113258C>G	CA401370456	GAA	c.2081C>G (p.Ala694Gly) c.219C>G (n.219C>G) n.521C>G c.500C>G
17	g.80113258C>T	CA401370457	GAA	c.2081C>T (p.Ala694Val) c.219C>T (n.219C>T) n.521C>T c.500C>T	gnomAD v4
17	g.80113259del	CA916082441	GAA	c.2082del (p.Met695Ter) c.220del (n.220del) n.522del c.501del	ClinVar dbSNP
17	g.80113259C>A	CA502179147	GAA	c.2082C>A (p.Ala694=) c.220C>A (n.220C>A) n.522C>A c.501C>A	gnomAD v4
17	g.80113259C>G	CA502179151	GAA	c.2082C>G (p.Ala694=) c.220C>G (n.220C>G) n.522C>G c.501C>G
17	g.80113259C>T	CA502179149	GAA	c.2082C>T (p.Ala694=) c.220C>T (n.220C>T) n.522C>T c.501C>T	ClinVar
17	g.80113260A=	CA2277815449	GAA	c.2083A= (p.Met695=) c.221A= (n.221A=) n.523A= c.502A=
17	g.80113260A>C	CA401370458	GAA	c.2083A>C (p.Met695Leu) c.221A>C (n.221A>C) n.523A>C c.502A>C	dbSNP
17	g.80113260A>G	CA401370459	GAA	c.2083A>G (p.Met695Val) c.221A>G (n.221A>G) n.523A>G c.502A>G	dbSNP
17	g.80113260A>T	CA401370460	GAA	c.2083A>T (p.Met695Leu) c.221A>T (n.221A>T) n.523A>T c.502A>T
17	g.80113261T>A	CA401370461	GAA	c.2084T>A (p.Met695Lys) c.222T>A (n.222T>A) n.524T>A c.503T>A
17	g.80113261T>C	CA401370462	GAA	c.2084T>C (p.Met695Thr) c.222T>C (n.222T>C) n.524T>C c.503T>C	ClinVar dbSNP gnomAD v4
17	g.80113261T>G	CA401370463	GAA	c.2084T>G (p.Met695Arg) c.222T>G (n.222T>G) n.524T>G c.503T>G
17	g.80113261dup	CA919905223	GAA	c.2084dup (p.Met695IlefsTer?) c.222dup (n.222dup) n.524dup c.503dup	dbSNP
17	g.80113262G>A	CA401370464	GAA	c.2085G>A (p.Met695Ile) c.223G>A (n.223G>A) n.525G>A c.504G>A	gnomAD v4
17	g.80113262G>C	CA401370465	GAA	c.2085G>C (p.Met695Ile) c.223G>C (n.223G>C) n.525G>C c.504G>C
17	g.80113262G>T	CA401370466	GAA	c.2085G>T (p.Met695Ile) c.223G>T (n.223G>T) n.525G>T c.504G>T	gnomAD v4
17	g.80113263A>C	CA502179158	GAA	c.2086A>C (p.Arg696=) c.224A>C (n.224A>C) n.526A>C c.505A>C
17	g.80113263A>G	CA401370467	GAA	c.2086A>G (p.Arg696Gly) c.224A>G (n.224A>G) n.526A>G c.505A>G	gnomAD v4
17	g.80113263A>T	CA401370468	GAA	c.2086A>T (p.Arg696Trp) c.224A>T (n.224A>T) n.526A>T c.505A>T
17	g.80113264G>A	CA401370470	GAA	c.2087G>A (p.Arg696Lys) c.225G>A (n.225G>A) n.527G>A c.506G>A	gnomAD v4
17	g.80113264G>C	CA401370471	GAA	c.2087G>C (p.Arg696Thr) c.225G>C (n.225G>C) n.527G>C c.506G>C
17	g.80113264G>T	CA401370469	GAA	c.2087G>T (p.Arg696Met) c.225G>T (n.225G>T) n.527G>T c.506G>T	gnomAD v4
17	g.80113265del	CA2580095814	GAA	c.2088del (p.Lys697ArgfsTer?) c.226del (n.226del) n.528del c.507del	ClinVar
17	g.80113265G>A	CA502179160	GAA	c.2088G>A (p.Arg696=) c.226G>A (n.226G>A) n.528G>A c.507G>A	ClinVar dbSNP gnomAD v4
17	g.80113265G>C	CA401370473	GAA	c.2088G>C (p.Arg696Ser) c.226G>C (n.226G>C) n.528G>C c.507G>C
17	g.80113265G>T	CA401370472	GAA	c.2088G>T (p.Arg696Ser) c.226G>T (n.226G>T) n.528G>T c.507G>T
17	g.80113266A>C	CA401370475	GAA	c.2089A>C (p.Lys697Gln) c.227A>C (n.227A>C) n.529A>C c.508A>C
17	g.80113266A>G	CA401370474	GAA	c.2089A>G (p.Lys697Glu) c.227A>G (n.227A>G) n.529A>G c.508A>G	gnomAD v4
17	g.80113266A>T	CA401370476	GAA	c.2089A>T (p.Lys697Ter) c.227A>T (n.227A>T) n.529A>T c.508A>T
17	g.80113267A>C	CA401370477	GAA	c.2090A>C (p.Lys697Thr) c.228A>C (n.228A>C) n.530A>C c.509A>C	gnomAD v4
17	g.80113267A>G	CA401370478	GAA	c.2090A>G (p.Lys697Arg) c.228A>G (n.228A>G) n.530A>G c.509A>G	gnomAD v4
17	g.80113267A>T	CA401370479	GAA	c.2090A>T (p.Lys697Met) c.228A>T (n.228A>T) n.530A>T c.509A>T
17	g.80113268G>A	CA502179164	GAA	c.2091G>A (p.Lys697=) c.229G>A (n.229G>A) n.531G>A c.510G>A	ClinVar dbSNP gnomAD v4
17	g.80113268G>C	CA401370480	GAA	c.2091G>C (p.Lys697Asn) c.229G>C (n.229G>C) n.531G>C c.510G>C
17	g.80113268G>T	CA401370481	GAA	c.2091G>T (p.Lys697Asn) c.229G>T (n.229G>T) n.531G>T c.510G>T
17	g.80113269G>A	CA198794	GAA	c.2092G>A (p.Ala698Thr) c.230G>A (n.230G>A) n.532G>A c.511G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80113269G>C	CA401370483	GAA	c.2092G>C (p.Ala698Pro) c.230G>C (n.230G>C) n.532G>C c.511G>C	gnomAD v4
17	g.80113269G=	CA2277815452	GAA	c.2092G= (p.Ala698=) c.230G= (n.230G=) n.532G= c.511G=
17	g.80113269G>T	CA401370482	GAA	c.2092G>T (p.Ala698Ser) c.230G>T (n.230G>T) n.532G>T c.511G>T	gnomAD v4
17	g.80113269_80113276del	CA2697555244	GAA	c.2092_2099del (p.Ala698ProfsTer?) c.230_237del (n.230_237del) c.511_518del	ClinVar
17	g.80113270C>A	CA294897317	GAA	c.2093C>A (p.Ala698Asp) c.231C>A (n.231C>A) n.533C>A c.512C>A	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.80113270C=	CA2277815454	GAA	c.2093C= (p.Ala698=) c.231C= (n.231C=) n.533C= c.512C=
17	g.80113270C>G	CA401370484	GAA	c.2093C>G (p.Ala698Gly) c.231C>G (n.231C>G) n.533C>G c.512C>G
17	g.80113270C>T	CA401370485	GAA	c.2093C>T (p.Ala698Val) c.231C>T (n.231C>T) n.533C>T c.512C>T	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.80113272dup	CA2573154944	GAA	c.2095dup (p.Leu699ProfsTer?) c.233dup (n.233dup) c.514dup	ClinVar dbSNP
17	g.80113274_80113279del	CA658795273	GAA	c.2097_2102del (p.Thr700_Leu701del) c.235_240del (n.235_240del) c.516_521del
17	g.80113271C>A	CA502179165	GAA	c.2094C>A (p.Ala698=) c.232C>A (n.232C>A) n.534C>A c.513C>A	gnomAD v4
17	g.80113271C>G	CA502179166	GAA	c.2094C>G (p.Ala698=) c.232C>G (n.232C>G) n.534C>G c.513C>G
17	g.80113271C>T	CA502179168	GAA	c.2094C>T (p.Ala698=) c.232C>T (n.232C>T) n.534C>T c.513C>T	gnomAD v4
17	g.80113272C>A	CA401370486	GAA	c.2095C>A (p.Leu699Ile) c.233C>A (n.233C>A) c.514C>A	gnomAD v4
17	g.80113272C=	CA2277815456	GAA	c.2095C= (p.Leu699=) c.233C= (n.233C=) c.514C=
17	g.80113272C>G	CA401370487	GAA	c.2095C>G (p.Leu699Val) c.233C>G (n.233C>G) c.514C>G
17	g.80113272C>T	CA401370488	GAA	c.2095C>T (p.Leu699Phe) c.233C>T (n.233C>T) c.514C>T	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.80113273T>A	CA401370491	GAA	c.2096T>A (p.Leu699His) c.234T>A (n.234T>A) c.515T>A
17	g.80113273T>C	CA401370489	GAA	c.2096T>C (p.Leu699Pro) c.234T>C (n.234T>C) c.515T>C	ClinVar dbSNP gnomAD v4
17	g.80113273T>G	CA401370490	GAA	c.2096T>G (p.Leu699Arg) c.234T>G (n.234T>G) c.515T>G
17	g.80113273T=	CA2277815457	GAA	c.2096T= (p.Leu699=) c.234T= (n.234T=) c.515T=
17	g.80113274C>A	CA502179171	GAA	c.2097C>A (p.Leu699=) c.235C>A (n.235C>A) c.516C>A	gnomAD v4
17	g.80113274C=	CA2277815458	GAA	c.2097C= (p.Leu699=) c.235C= (n.235C=) c.516C=
17	g.80113274C>G	CA502179173	GAA	c.2097C>G (p.Leu699=) c.235C>G (n.235C>G) c.516C>G
17	g.80113274C>T	CA502179172	GAA	c.2097C>T (p.Leu699=) c.235C>T (n.235C>T) c.516C>T	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.80113274_80113275insTTTTTTA	CA986708715	GAA	c.2097_2098insTTTTTTA (p.Thr700PhefsTer?) c.235_236insTTTTTTA (n.235_236insTTTTTTA) c.516_517insTTTTTTA	gnomAD v3 gnomAD v4
17	g.80113275A=	CA2277815460	GAA	c.2098A= (p.Thr700=) c.236A= (n.236A=) c.517A=
17	g.80113275A>C	CA401370492	GAA	c.2098A>C (p.Thr700Pro) c.236A>C (n.236A>C) c.517A>C	gnomAD v4
17	g.80113275A>G	CA294897331	GAA	c.2098A>G (p.Thr700Ala) c.236A>G (n.236A>G) c.517A>G	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80113275A>T	CA401370493	GAA	c.2098A>T (p.Thr700Ser) c.236A>T (n.236A>T) c.517A>T	gnomAD v4
17	g.80113276C>A	CA401370494	GAA	c.2099C>A (p.Thr700Asn) c.237C>A (n.237C>A) c.518C>A	gnomAD v4
17	g.80113276C=	CA2277815462	GAA	c.2099C= (p.Thr700=) c.237C= (n.237C=) c.518C=
17	g.80113276C>G	CA401370495	GAA	c.2099C>G (p.Thr700Ser) c.237C>G (n.237C>G) c.518C>G
17	g.80113276C>T	CA401370496	GAA	c.2099C>T (p.Thr700Ile) c.237C>T (n.237C>T) c.518C>T	ClinVar dbSNP gnomAD v4
17	g.80113276_80113278del	CA986708720	GAA	c.2099_2101del (p.Thr700_Leu701delinsMet) c.237_239del (n.237_239del) c.518_520del	gnomAD v3 gnomAD v4
17	g.80113277C>A	CA502179177	GAA	c.2100C>A (p.Thr700=) c.238C>A (n.238C>A) c.519C>A	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80113277C=	CA2277815464	GAA	c.2100C= (p.Thr700=) c.238C= (n.238C=) c.519C=
17	g.80113277C>G	CA502179178	GAA	c.2100C>G (p.Thr700=) c.238C>G (n.238C>G) c.519C>G
17	g.80113277C>T	CA294897342	GAA	c.2100C>T (p.Thr700=) c.238C>T (n.238C>T) c.519C>T	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80113278C>A	CA401370497	GAA	c.2101C>A (p.Leu701Met) c.239C>A (n.239C>A) c.520C>A	gnomAD v4
17	g.80113278C=	CA2277815466	GAA	c.2101C= (p.Leu701=) c.239C= (n.239C=) c.520C=
17	g.80113278C>G	CA401370498	GAA	c.2101C>G (p.Leu701Val) c.239C>G (n.239C>G) c.520C>G	ClinVar
17	g.80113278C>T	CA8815609	GAA	c.2101C>T (p.Leu701=) c.239C>T (n.239C>T) c.520C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80113279T>A	CA401370499	GAA	c.2102T>A (p.Leu701Gln) c.240T>A (n.240T>A) c.521T>A	gnomAD v4
17	g.80113279T>C	CA401370500	GAA	c.2102T>C (p.Leu701Pro) c.240T>C (n.240T>C) c.521T>C	gnomAD v4
17	g.80113279T>G	CA401370501	GAA	c.2102T>G (p.Leu701Arg) c.240T>G (n.240T>G) c.521T>G
17	g.80113280G>A	CA502179182	GAA	c.2103G>A (p.Leu701=) c.241G>A (n.241G>A) c.522G>A	gnomAD v4
17	g.80113280G>C	CA502179180	GAA	c.2103G>C (p.Leu701=) c.241G>C (n.241G>C) c.522G>C
17	g.80113280G>T	CA502179181	GAA	c.2103G>T (p.Leu701=) c.241G>T (n.241G>T) c.522G>T	gnomAD v4
17	g.80113282_80113283del	CA986708733	GAA	c.2105_2106del (p.Arg702LeufsTer?) c.243_244del (n.243_244del) c.524_525del	gnomAD v3 gnomAD v4
17	g.80113281C>A	CA401370503	GAA	c.2104C>A (p.Arg702Ser) c.242C>A (n.242C>A) c.523C>A
17	g.80113281C=	CA2277815468	GAA	c.2104C= (p.Arg702=) c.242C= (n.242C=) c.523C=
17	g.80113281C>G	CA401370502	GAA	c.2104C>G (p.Arg702Gly) c.242C>G (n.242C>G) c.523C>G
17	g.80113281C>T	CA274304	GAA	c.2104C>T (p.Arg702Cys) c.242C>T (n.242C>T) c.523C>T	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80113282G>A	CA8815610	GAA	c.2105G>A (p.Arg702His) c.243G>A (n.243G>A) c.524G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80113282G>C	CA401370504	GAA	c.2105G>C (p.Arg702Pro) c.243G>C (n.243G>C) c.524G>C	ClinVar dbSNP gnomAD v4
17	g.80113282G=	CA2277815471	GAA	c.2105G= (p.Arg702=) c.243G= (n.243G=) c.524G=
17	g.80113282G>T	CA220396	GAA	c.2105G>T (p.Arg702Leu) c.243G>T (n.243G>T) c.524G>T	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.80113283C>A	CA502179186	GAA	c.2106C>A (p.Arg702=) c.244C>A (n.244C>A) c.525C>A	gnomAD v3 gnomAD v4
17	g.80113283C>G	CA502179187	GAA	c.2106C>G (p.Arg702=) c.244C>G (n.244C>G) c.525C>G	gnomAD v4
17	g.80113283C>T	CA502179188	GAA	c.2106C>T (p.Arg702=) c.244C>T (n.244C>T) c.525C>T
17	g.80113284T>A	CA401370505	GAA	c.2107T>A (p.Tyr703Asn) c.245T>A (n.245T>A) c.526T>A
17	g.80113284T>C	CA401370506	GAA	c.2107T>C (p.Tyr703His) c.245T>C (n.245T>C) c.526T>C
17	g.80113284T>G	CA401370507	GAA	c.2107T>G (p.Tyr703Asp) c.245T>G (n.245T>G) c.526T>G
17	g.80113285A=	CA2277815473	GAA	c.2108A= (p.Tyr703=) c.246A= (n.246A=) c.527A=
17	g.80113285A>C	CA401370508	GAA	c.2108A>C (p.Tyr703Ser) c.246A>C (n.246A>C) c.527A>C
17	g.80113285A>G	CA294897382	GAA	c.2108A>G (p.Tyr703Cys) c.246A>G (n.246A>G) c.527A>G	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.80113285A>T	CA401370509	GAA	c.2108A>T (p.Tyr703Phe) c.246A>T (n.246A>T) c.527A>T
17	g.80113285_80113286delinsAC	CA2277815474	GAA	c.2108_2109delinsAC (p.Tyr703=) c.246_247delinsAC (n.246_247delinsAC) c.527_528delinsAC
17	g.80113286del	CA891862616	GAA	c.2109del (p.Tyr703Ter) c.247del (n.247del) c.528del	dbSNP
17	g.80113286C>A	CA401370510	GAA	c.2109C>A (p.Tyr703Ter) c.247C>A (n.247C>A) c.528C>A	ClinVar dbSNP gnomAD v4
17	g.80113286C=	CA2277815476	GAA	c.2109C= (p.Tyr703=) c.247C= (n.247C=) c.528C=
17	g.80113286C>G	CA401370511	GAA	c.2109C>G (p.Tyr703Ter) c.247C>G (n.247C>G) c.528C>G	ClinVar
17	g.80113286C>T	CA8815611	GAA	c.2109C>T (p.Tyr703=) c.247C>T (n.247C>T) c.528C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80113287G>A	CA8815612	GAA	c.2110G>A (p.Ala704Thr) c.248G>A (n.248G>A) c.529G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80113287G>C	CA401370513	GAA	c.2110G>C (p.Ala704Pro) c.248G>C (n.248G>C) c.529G>C	ClinVar dbSNP
17	g.80113287G=	CA2277815478	GAA	c.2110G= (p.Ala704=) c.248G= (n.248G=) c.529G=
17	g.80113287G>T	CA401370512	GAA	c.2110G>T (p.Ala704Ser) c.248G>T (n.248G>T) c.529G>T	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80113287dup	CA986708765	GAA	c.2110dup (p.Ala704GlyfsTer?) c.248dup (n.248dup) c.529dup	gnomAD v3 gnomAD v4
17	g.80113287_80113288insGCTT	CA2810586093	GAA	c.2110_2111insGCTT (p.Ala704GlyfsTer?) c.248_249insGCTT (n.248_249insGCTT) c.529_530insGCTT
17	g.80113288C>A	CA401370514	GAA	c.2111C>A (p.Ala704Glu) c.249C>A (n.249C>A) c.530C>A	gnomAD v4
17	g.80113288C>G	CA401370515	GAA	c.2111C>G (p.Ala704Gly) c.249C>G (n.249C>G) c.530C>G
17	g.80113288C>T	CA401370516	GAA	c.2111C>T (p.Ala704Val) c.249C>T (n.249C>T) c.530C>T	gnomAD v4
17	g.80113288_80113289insG	CA986708769	GAA	c.2111_2112insG (p.Leu705ThrfsTer?) c.249_250insG (n.249_250insG) c.530_531insG	gnomAD v3 gnomAD v4
17	g.80113289A=	CA2277815480	GAA	c.2112A= (p.Ala704=) c.250A= (n.250A=) c.531A=
17	g.80113289A>C	CA502179195	GAA	c.2112A>C (p.Ala704=) c.250A>C (n.250A>C) c.531A>C	ClinVar dbSNP gnomAD v4
17	g.80113289A>G	CA502179196	GAA	c.2112A>G (p.Ala704=) c.250A>G (n.250A>G) c.531A>G	ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
17	g.80113289A>T	CA502179197	GAA	c.2112A>T (p.Ala704=) c.250A>T (n.250A>T) c.531A>T	gnomAD v4
17	g.80113290C>A	CA401370517	GAA	c.2113C>A (p.Leu705Ile) c.251C>A (n.251C>A) c.532C>A	gnomAD v4
17	g.80113290C>G	CA401370518	GAA	c.2113C>G (p.Leu705Val) c.251C>G (n.251C>G) c.532C>G	gnomAD v4
17	g.80113290C>T	CA401370519	GAA	c.2113C>T (p.Leu705Phe) c.251C>T (n.251C>T) c.532C>T	gnomAD v4
17	g.80113291_80113298del	CA986708772	GAA	c.2114_2121del (p.Leu705ProfsTer29) c.252_259del (n.252_259del) c.533_540del	gnomAD v3 gnomAD v4
17	g.80113291T>A	CA401370520	GAA	c.2114T>A (p.Leu705His) c.252T>A (n.252T>A) c.533T>A
17	g.80113291T>C	CA401370521	GAA	c.2114T>C (p.Leu705Pro) c.252T>C (n.252T>C) c.533T>C
17	g.80113291T>G	CA401370522	GAA	c.2114T>G (p.Leu705Arg) c.252T>G (n.252T>G) c.533T>G
17	g.80113292C>A	CA502179201	GAA	c.2115C>A (p.Leu705=) c.253C>A (n.253C>A) c.534C>A	gnomAD v4
17	g.80113292C=	CA2277815482	GAA	c.2115C= (p.Leu705=) c.253C= (n.253C=) c.534C=
17	g.80113292C>G	CA502179202	GAA	c.2115C>G (p.Leu705=) c.253C>G (n.253C>G) c.534C>G	ClinVar
17	g.80113292C>T	CA8815613	GAA	c.2115C>T (p.Leu705=) c.253C>T (n.253C>T) c.534C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80113293C>A	CA401370523	GAA	c.2116C>A (p.Leu706Ile) c.254C>A (n.254C>A) c.535C>A	gnomAD v4
17	g.80113293C=	CA2277815485	GAA	c.2116C= (p.Leu706=) c.254C= (n.254C=) c.535C=
17	g.80113293C>G	CA401370524	GAA	c.2116C>G (p.Leu706Val) c.254C>G (n.254C>G) c.535C>G
17	g.80113293C>T	CA401370525	GAA	c.2116C>T (p.Leu706Phe) c.254C>T (n.254C>T) c.535C>T	dbSNP gnomAD v4
17	g.80113294T>A	CA401370527	GAA	c.2117T>A (p.Leu706His) c.255T>A (n.255T>A) c.536T>A
17	g.80113294T>C	CA401370528	GAA	c.2117T>C (p.Leu706Pro) c.255T>C (n.255T>C) c.536T>C	dbSNP gnomAD v2 gnomAD v4
17	g.80113294T>G	CA401370526	GAA	c.2117T>G (p.Leu706Arg) c.255T>G (n.255T>G) c.536T>G
17	g.80113294T=	CA2277815486	GAA	c.2117T= (p.Leu706=) c.255T= (n.255T=) c.536T=
17	g.80113295C>A	CA502179204	GAA	c.2118C>A (p.Leu706=) c.256C>A (n.256C>A) c.537C>A	gnomAD v4
17	g.80113295C=	CA2277815487	GAA	c.2118C= (p.Leu706=) c.256C= (n.256C=) c.537C=
17	g.80113295C>G	CA502179205	GAA	c.2118C>G (p.Leu706=) c.256C>G (n.256C>G) c.537C>G	ClinVar dbSNP gnomAD v4
17	g.80113295C>T	CA502179207	GAA	c.2118C>T (p.Leu706=) c.256C>T (n.256C>T) c.537C>T	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80113299dup	CA2695200364	GAA	c.2122dup (p.His708ProfsTer29) c.260dup (n.260dup) c.541dup	ClinVar
17	g.80113299del	CA2580612686	GAA	c.2122del (p.His708ThrfsTer?) c.260del (n.260del) c.541del	ClinVar gnomAD v4
17	g.80113296C>A	CA401370529	GAA	c.2119C>A (p.Pro707Thr) c.257C>A (n.257C>A) c.538C>A	gnomAD v4
17	g.80113296C>G	CA401370531	GAA	c.2119C>G (p.Pro707Ala) c.257C>G (n.257C>G) c.538C>G
17	g.80113296C>T	CA401370530	GAA	c.2119C>T (p.Pro707Ser) c.257C>T (n.257C>T) c.538C>T
17	g.80113297C>A	CA401370532	GAA	c.2120C>A (p.Pro707His) c.258C>A (n.258C>A) c.539C>A	gnomAD v4
17	g.80113297C=	CA2277815489	GAA	c.2120C= (p.Pro707=) c.258C= (n.258C=) c.539C=
17	g.80113297C>G	CA401370533	GAA	c.2120C>G (p.Pro707Arg) c.258C>G (n.258C>G) c.539C>G	gnomAD v4
17	g.80113297C>T	CA294897393	GAA	c.2120C>T (p.Pro707Leu) c.258C>T (n.258C>T) c.539C>T	ClinVar dbSNP gnomAD v2
17	g.80113298C>A	CA502179209	GAA	c.2121C>A (p.Pro707=) c.259C>A (n.259C>A) c.540C>A	gnomAD v4
17	g.80113298C=	CA2277815490	GAA	c.2121C= (p.Pro707=) c.259C= (n.259C=) c.540C=
17	g.80113298C>G	CA502179211	GAA	c.2121C>G (p.Pro707=) c.259C>G (n.259C>G) c.540C>G
17	g.80113298C>T	CA8815614	GAA	c.2121C>T (p.Pro707=) c.259C>T (n.259C>T) c.540C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80113298_80113299insG	CA628018664	GAA	c.2121_2122insG (p.His708AlafsTer29) c.259_260insG (n.259_260insG) c.540_541insG	dbSNP gnomAD v2 gnomAD v4
17	g.80113299C>A	CA8815615	GAA	c.2122C>A (p.His708Asn) c.260C>A (n.260C>A) c.541C>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80113299C=	CA2277815493	GAA	c.2122C= (p.His708=) c.260C= (n.260C=) c.541C=
17	g.80113299C>G	CA8815616	GAA	c.2122C>G (p.His708Asp) c.260C>G (n.260C>G) c.541C>G	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80113299C>T	CA8815617	GAA	c.2122C>T (p.His708Tyr) c.260C>T (n.260C>T) c.541C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80113300A=	CA2277815494	GAA	c.2123A= (p.His708=) c.261A= (n.261A=) c.542A=
17	g.80113300A>C	CA401370534	GAA	c.2123A>C (p.His708Pro) c.261A>C (n.261A>C) c.542A>C
17	g.80113300A>G	CA401370535	GAA	c.2123A>G (p.His708Arg) c.261A>G (n.261A>G) c.542A>G
17	g.80113300A>T	CA8815618	GAA	c.2123A>T (p.His708Leu) c.261A>T (n.261A>T) c.542A>T	dbSNP ExAC
17	g.80113301C>A	CA401370537	GAA	c.2124C>A (p.His708Gln) c.262C>A (n.262C>A) c.543C>A
17	g.80113301C=	CA2277815495	GAA	c.2124C= (p.His708=) c.262C= (n.262C=) c.543C=
17	g.80113301C>G	CA401370536	GAA	c.2124C>G (p.His708Gln) c.262C>G (n.262C>G) c.543C>G	ClinVar dbSNP gnomAD v4
17	g.80113301C>T	CA8815619	GAA	c.2124C>T (p.His708=) c.262C>T (n.262C>T) c.543C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80113302C>A	CA401370538	GAA	c.2125C>A (p.Leu709Ile) c.263C>A (n.263C>A) c.544C>A	gnomAD v4
17	g.80113302C>G	CA401370539	GAA	c.2125C>G (p.Leu709Val) c.263C>G (n.263C>G) c.544C>G
17	g.80113302C>T	CA401370540	GAA	c.2125C>T (p.Leu709Phe) c.263C>T (n.263C>T) c.544C>T
17	g.80113302_80113303insGAGA	CA986708781	GAA	c.2125_2126insGAGA (p.Leu709ArgfsTer29) c.263_264insGAGA (n.263_264insGAGA) c.544_545insGAGA	gnomAD v3 gnomAD v4
17	g.80113303T>A	CA401370541	GAA	c.2126T>A (p.Leu709His) c.264T>A (n.264T>A) c.545T>A
17	g.80113303T>C	CA401370542	GAA	c.2126T>C (p.Leu709Pro) c.264T>C (n.264T>C) c.545T>C
17	g.80113303T>G	CA401370543	GAA	c.2126T>G (p.Leu709Arg) c.264T>G (n.264T>G) c.545T>G
17	g.80113304C>A	CA502179218	GAA	c.2127C>A (p.Leu709=) c.265C>A (n.265C>A) c.546C>A	gnomAD v4
17	g.80113304C>G	CA502179219	GAA	c.2127C>G (p.Leu709=) c.265C>G (n.265C>G) c.546C>G	COSMIC
17	g.80113304C>T	CA502179220	GAA	c.2127C>T (p.Leu709=) c.265C>T (n.265C>T) c.546C>T	gnomAD v4
17	g.80113305T>A	CA401370544	GAA	c.2128T>A (p.Tyr710Asn) c.266T>A (n.266T>A) c.547T>A
17	g.80113305T>C	CA401370545	GAA	c.2128T>C (p.Tyr710His) c.266T>C (n.266T>C) c.547T>C	gnomAD v4
17	g.80113305T>G	CA401370546	GAA	c.2128T>G (p.Tyr710Asp) c.266T>G (n.266T>G) c.547T>G
17	g.80113306A>C	CA401370547	GAA	c.2129A>C (p.Tyr710Ser) c.267A>C (n.267A>C) c.548A>C
17	g.80113306A>G	CA401370548	GAA	c.2129A>G (p.Tyr710Cys) c.267A>G (n.267A>G) c.548A>G	gnomAD v4
17	g.80113306A>T	CA401370549	GAA	c.2129A>T (p.Tyr710Phe) c.267A>T (n.267A>T) c.548A>T
17	g.80113307C>A	CA401370551	GAA	c.2130C>A (p.Tyr710Ter) c.268C>A (n.268C>A) c.549C>A	ClinVar dbSNP gnomAD v4
17	g.80113307C=	CA2277815496	GAA	c.2130C= (p.Tyr710=) c.268C= (n.268C=) c.549C=
17	g.80113307C>G	CA401370550	GAA	c.2130C>G (p.Tyr710Ter) c.268C>G (n.268C>G) c.549C>G
17	g.80113307C>T	CA502179222	GAA	c.2130C>T (p.Tyr710=) c.268C>T (n.268C>T) c.549C>T	gnomAD v4
17	g.80113308A>C	CA401370552	GAA	c.2131A>C (p.Thr711Pro) c.269A>C (n.269A>C) c.550A>C	ClinVar dbSNP
17	g.80113308A>G	CA401370553	GAA	c.2131A>G (p.Thr711Ala) c.269A>G (n.269A>G) c.550A>G	ClinVar dbSNP gnomAD v4
17	g.80113308A>T	CA401370554	GAA	c.2131A>T (p.Thr711Ser) c.269A>T (n.269A>T) c.550A>T	ClinVar
17	g.80113309C>A	CA401370555	GAA	c.2132C>A (p.Thr711Lys) c.270C>A (n.270C>A) c.551C>A
17	g.80113309C=	CA2277815497	GAA	c.2132C= (p.Thr711=) c.270C= (n.270C=) c.551C=
17	g.80113309C>G	CA8815620	GAA	c.2132C>G (p.Thr711Arg) c.270C>G (n.270C>G) c.551C>G	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80113309C>T	CA401370556	GAA	c.2132C>T (p.Thr711Ile) c.270C>T (n.270C>T) c.551C>T	dbSNP gnomAD v2 gnomAD v4
17	g.80113309_80113310delinsCA	CA2277815498	GAA	c.2132_2133delinsCA (p.Thr711=) c.270_271delinsCA (n.270_271delinsCA) c.551_552delinsCA
17	g.80113309_80113310delinsGG	CA658658713	GAA	c.2132_2133delinsGG (p.Thr711Arg) c.270_271delinsGG (n.270_271delinsGG) c.551_552delinsGG	ClinVar dbSNP
17	g.80113309_80113310delinsTG	CA2573154945	GAA	c.2132_2133delinsTG (p.Thr711Met) c.270_271delinsTG (n.270_271delinsTG) c.551_552delinsTG	ClinVar
17	g.80113310A=	CA2277815499	GAA	c.2133A= (p.Thr711=) c.271A= (n.271A=) c.552A=
17	g.80113310A>C	CA502179226	GAA	c.2133A>C (p.Thr711=) c.271A>C (n.271A>C) c.552A>C
17	g.80113310A>G	CA145765	GAA	c.2133A>G (p.Thr711=) c.271A>G (n.271A>G) c.552A>G	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80113310A>T	CA502179227	GAA	c.2133A>T (p.Thr711=) c.271A>T (n.271A>T) c.552A>T	dbSNP
17	g.80113311C>A	CA401370557	GAA	c.2134C>A (p.Leu712Met) c.272C>A (n.272C>A) c.553C>A	dbSNP gnomAD v4
17	g.80113311C=	CA2277815500	GAA	c.2134C= (p.Leu712=) c.272C= (n.272C=) c.553C=
17	g.80113311C>G	CA401370558	GAA	c.2134C>G (p.Leu712Val) c.272C>G (n.272C>G) c.553C>G
17	g.80113311C>T	CA8815621	GAA	c.2134C>T (p.Leu712=) c.272C>T (n.272C>T) c.553C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80113311_80113313del	CA913014064	GAA	c.2134_2136del (p.Leu712del) c.272_274del (n.272_274del) c.553_555del
17	g.80113311_80113313delinsCTG	CA2277815501	GAA	c.2134_2136delinsCTG (p.Leu712=) c.272_274delinsCTG (n.272_274delinsCTG) c.553_555delinsCTG
17	g.80113312T>A	CA401370559	GAA	c.2135T>A (p.Leu712Gln) c.273T>A (n.273T>A) c.554T>A	dbSNP
17	g.80113312T>C	CA401370560	GAA	c.2135T>C (p.Leu712Pro) c.273T>C (n.273T>C) c.554T>C	gnomAD v4
17	g.80113312T>G	CA401370561	GAA	c.2135T>G (p.Leu712Arg) c.273T>G (n.273T>G) c.554T>G
17	g.80113312T=	CA2277815502	GAA	c.2135T= (p.Leu712=) c.273T= (n.273T=) c.554T=
17	g.80113313_80113314del	CA658795274	GAA	c.2136_2137del (p.Phe713ProfsTer23) c.274_275del (n.274_275del) c.555_556del	ClinVar dbSNP gnomAD v4
17	g.80113313G>A	CA502179229	GAA	c.2136G>A (p.Leu712=) c.274G>A (n.274G>A) c.555G>A	gnomAD v4
17	g.80113313G>C	CA502179230	GAA	c.2136G>C (p.Leu712=) c.274G>C (n.274G>C) c.555G>C	gnomAD v4
17	g.80113313G>T	CA502179231	GAA	c.2136G>T (p.Leu712=) c.274G>T (n.274G>T) c.555G>T	gnomAD v4
17	g.80113314T>A	CA401370563	GAA	c.2137T>A (p.Phe713Ile) c.275T>A (n.275T>A) c.556T>A
17	g.80113314T>C	CA8815622	GAA	c.2137T>C (p.Phe713Leu) c.275T>C (n.275T>C) c.556T>C	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80113314T>G	CA401370562	GAA	c.2137T>G (p.Phe713Val) c.275T>G (n.275T>G) c.556T>G
17	g.80113314T=	CA2277815503	GAA	c.2137T= (p.Phe713=) c.275T= (n.275T=) c.556T=
17	g.80113315T>A	CA401370564	GAA	c.2138T>A (p.Phe713Tyr) c.276T>A (n.276T>A) c.557T>A
17	g.80113315T>C	CA401370565	GAA	c.2138T>C (p.Phe713Ser) c.276T>C (n.276T>C) c.557T>C	gnomAD v4
17	g.80113315T>G	CA401370566	GAA	c.2138T>G (p.Phe713Cys) c.276T>G (n.276T>G) c.557T>G
17	g.80113315_80113316delinsTC	CA2277815504	GAA	c.2138_2139delinsTC (p.Phe713=) c.276_277delinsTC (n.276_277delinsTC) c.557_558delinsTC
17	g.80113316C>A	CA401370567	GAA	c.2139C>A (p.Phe713Leu) c.277C>A (n.277C>A) c.558C>A	gnomAD v4
17	g.80113316C>G	CA401370568	GAA	c.2139C>G (p.Phe713Leu) c.277C>G (n.277C>G) c.558C>G
17	g.80113316C>T	CA502179236	GAA	c.2139C>T (p.Phe713=) c.277C>T (n.277C>T) c.558C>T	gnomAD v4 COSMIC
17	g.80113317del	CA274107	GAA	c.2140del (p.His714ThrfsTer?) c.278del (n.278del) c.559del	ClinVar dbSNP
17	g.80113317C>A	CA401370569	GAA	c.2140C>A (p.His714Asn) c.278C>A (n.278C>A) c.559C>A
17	g.80113317C=	CA2277815505	GAA	c.2140C= (p.His714=) c.278C= (n.278C=) c.559C=
17	g.80113317C>G	CA401370570	GAA	c.2140C>G (p.His714Asp) c.278C>G (n.278C>G) c.559C>G	gnomAD v4
17	g.80113317C>T	CA401370571	GAA	c.2140C>T (p.His714Tyr) c.278C>T (n.278C>T) c.559C>T	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.80113318A=	CA2277815506	GAA	c.2141A= (p.His714=) c.279A= (n.279A=) c.560A=
17	g.80113318A>C	CA401370572	GAA	c.2141A>C (p.His714Pro) c.279A>C (n.279A>C) c.560A>C
17	g.80113318A>G	CA294897442	GAA	c.2141A>G (p.His714Arg) c.279A>G (n.279A>G) c.560A>G	dbSNP
17	g.80113318A>T	CA401370573	GAA	c.2141A>T (p.His714Leu) c.279A>T (n.279A>T) c.560A>T
17	g.80113319C>A	CA401370574	GAA	c.2142C>A (p.His714Gln) c.280C>A (n.280C>A) c.561C>A	gnomAD v4
17	g.80113319C=	CA2277815507	GAA	c.2142C= (p.His714=) c.280C= (n.280C=) c.561C=
17	g.80113319C>G	CA401370575	GAA	c.2142C>G (p.His714Gln) c.280C>G (n.280C>G) c.561C>G
17	g.80113319C>T	CA8815623	GAA	c.2142C>T (p.His714=) c.280C>T (n.280C>T) c.561C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80113320del	CA2640297597	GAA	c.2143del (p.Gln715ArgfsTer?) c.281del (n.281del) c.562del	gnomAD v4
17	g.80113320C>A	CA401370576	GAA	c.2143C>A (p.Gln715Lys) c.281C>A (n.281C>A) c.562C>A	gnomAD v4
17	g.80113320C=	CA2277815508	GAA	c.2143C= (p.Gln715=) c.281C= (n.281C=) c.562C=
17	g.80113320C>G	CA401370577	GAA	c.2143C>G (p.Gln715Glu) c.281C>G (n.281C>G) c.562C>G	gnomAD v4
17	g.80113320C>T	CA401370578	GAA	c.2143C>T (p.Gln715Ter) c.281C>T (n.281C>T) c.562C>T	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.80113321A>C	CA401370579	GAA	c.2144A>C (p.Gln715Pro) c.282A>C (n.282A>C) c.563A>C
17	g.80113321A>G	CA401370580	GAA	c.2144A>G (p.Gln715Arg) c.282A>G (n.282A>G) c.563A>G	gnomAD v4
17	g.80113321A>T	CA401370581	GAA	c.2144A>T (p.Gln715Leu) c.282A>T (n.282A>T) c.563A>T
17	g.80113322G>A	CA502179240	GAA	c.2145G>A (p.Gln715=) c.283G>A (n.283G>A) c.564G>A
17	g.80113322G>C	CA401370583	GAA	c.2145G>C (p.Gln715His) c.283G>C (n.283G>C) c.564G>C
17	g.80113322G>T	CA401370582	GAA	c.2145G>T (p.Gln715His) c.283G>T (n.283G>T) c.564G>T	gnomAD v4
17	g.80113323G>A	CA401370584	GAA	c.2146G>A (p.Ala716Thr) c.284G>A (n.284G>A) c.565G>A	gnomAD v4
17	g.80113323G>C	CA401370585	GAA	c.2146G>C (p.Ala716Pro) c.284G>C (n.284G>C) c.565G>C	dbSNP gnomAD v4
17	g.80113323G=	CA2277815509	GAA	c.2146G= (p.Ala716=) c.284G= (n.284G=) c.565G=
17	g.80113323G>T	CA401370586	GAA	c.2146G>T (p.Ala716Ser) c.284G>T (n.284G>T) c.565G>T	dbSNP gnomAD v2 gnomAD v4
17	g.80113324C>A	CA401370587	GAA	c.2147C>A (p.Ala716Asp) c.285C>A (n.285C>A) c.566C>A	gnomAD v4
17	g.80113324C>G	CA401370588	GAA	c.2147C>G (p.Ala716Gly) c.285C>G (n.285C>G) c.566C>G
17	g.80113324C>T	CA401370589	GAA	c.2147C>T (p.Ala716Val) c.285C>T (n.285C>T) c.566C>T	gnomAD v4 COSMIC
17	g.80113325C>A	CA502179242	GAA	c.2148C>A (p.Ala716=) c.286C>A (n.286C>A) c.567C>A	ClinVar dbSNP gnomAD v4
17	g.80113325C=	CA2277815510	GAA	c.2148C= (p.Ala716=) c.286C= (n.286C=) c.567C=
17	g.80113325C>G	CA502179243	GAA	c.2148C>G (p.Ala716=) c.286C>G (n.286C>G) c.567C>G	ClinVar dbSNP gnomAD v4
17	g.80113325C>T	CA8815624	GAA	c.2148C>T (p.Ala716=) c.286C>T (n.286C>T) c.567C>T	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80113326C>A	CA401370590	GAA	c.2149C>A (p.His717Asn) c.287C>A (n.287C>A) c.568C>A	gnomAD v4
17	g.80113326C>G	CA401370592	GAA	c.2149C>G (p.His717Asp) c.287C>G (n.287C>G) c.568C>G
17	g.80113326C>T	CA401370591	GAA	c.2149C>T (p.His717Tyr) c.287C>T (n.287C>T) c.568C>T	gnomAD v4
17	g.80113327A>C	CA401370593	GAA	c.2150A>C (p.His717Pro) c.288A>C (n.288A>C) c.569A>C
17	g.80113327A>G	CA401370594	GAA	c.2150A>G (p.His717Arg) c.288A>G (n.288A>G) c.569A>G	gnomAD v4
17	g.80113327A>T	CA401370595	GAA	c.2150A>T (p.His717Leu) c.288A>T (n.288A>T) c.569A>T
17	g.80113328C>A	CA401370596	GAA	c.2151C>A (p.His717Gln) c.289C>A (n.289C>A) c.570C>A	gnomAD v4
17	g.80113328C=	CA2277815511	GAA	c.2151C= (p.His717=) c.289C= (n.289C=) c.570C=
17	g.80113328C>G	CA401370597	GAA	c.2151C>G (p.His717Gln) c.289C>G (n.289C>G) c.570C>G
17	g.80113328C>T	CA8815625	GAA	c.2151C>T (p.His717=) c.289C>T (n.289C>T) c.570C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80113329G>A	CA8815626	GAA	c.2152G>A (p.Val718Ile) c.290G>A (n.290G>A) c.571G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80113329G>C	CA401370598	GAA	c.2152G>C (p.Val718Leu) c.290G>C (n.290G>C) c.571G>C	ClinVar gnomAD v4
17	g.80113329G=	CA2277815512	GAA	c.2152G= (p.Val718=) c.290G= (n.290G=) c.571G=
17	g.80113329G>T	CA401370599	GAA	c.2152G>T (p.Val718Phe) c.290G>T (n.290G>T) c.571G>T	gnomAD v4
17	g.80113329_80113333delinsGTCGC	CA2277815513	GAA	c.2152_2156delinsGTCGC (p.Val718=) c.290_294delinsGTCGC (n.290_294delinsGTCGC) c.571_575delinsGTCGC
17	g.80113330T>A	CA401370600	GAA	c.2153T>A (p.Val718Asp) c.291T>A (n.291T>A) c.572T>A
17	g.80113330T>C	CA401370601	GAA	c.2153T>C (p.Val718Ala) c.291T>C (n.291T>C) c.572T>C	COSMIC
17	g.80113330T>G	CA401370602	GAA	c.2153T>G (p.Val718Gly) c.291T>G (n.291T>G) c.572T>G
17	g.80113330_80113333delinsACGCCG	CA919905225	GAA	c.2153_2156delinsACGCCG (p.Val718AspfsTer?) c.291_294delinsACGCCG (n.291_294delinsACGCCG) c.572_575delinsACGCCG	dbSNP
17	g.80113331C>A	CA502179245	GAA	c.2154C>A (p.Val718=) c.292C>A (n.292C>A) c.573C>A	gnomAD v4
17	g.80113331C=	CA2277815514	GAA	c.2154C= (p.Val718=) c.292C= (n.292C=) c.573C=
17	g.80113331C>G	CA502179246	GAA	c.2154C>G (p.Val718=) c.292C>G (n.292C>G) c.573C>G	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80113331C>T	CA8815627	GAA	c.2154C>T (p.Val718=) c.292C>T (n.292C>T) c.573C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80113332G>A	CA8815629	GAA	c.2155G>A (p.Ala719Thr) c.293G>A (n.293G>A) c.574G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17	g.80113332G>C	CA401370603	GAA	c.2155G>C (p.Ala719Pro) c.293G>C (n.293G>C) c.574G>C
17	g.80113332G=	CA2277815515	GAA	c.2155G= (p.Ala719=) c.293G= (n.293G=) c.574G=
17	g.80113332G>T	CA8815628	GAA	c.2155G>T (p.Ala719Ser) c.293G>T (n.293G>T) c.574G>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80113333C>A	CA240427	GAA	c.2156C>A (p.Ala719Glu) c.294C>A (n.294C>A) c.575C>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80113333C=	CA2277815516	GAA	c.2156C= (p.Ala719=) c.294C= (n.294C=) c.575C=
17	g.80113333C>G	CA401370604	GAA	c.2156C>G (p.Ala719Gly) c.294C>G (n.294C>G) c.575C>G
17	g.80113333C>T	CA8815630	GAA	c.2156C>T (p.Ala719Val) c.294C>T (n.294C>T) c.575C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80113333dup	CA913014065	GAA	c.2156dup (p.Glu721GlyfsTer16) c.294dup (n.294dup) c.575dup
17	g.80113333_80113334delinsCG	CA2277815517	GAA	c.2156_2157delinsCG (p.Ala719=) c.294_295delinsCG (n.294_295delinsCG) c.575_576delinsCG
17	g.80113335_80113344dup	CA2576414204	GAA	c.2158_2167dup (p.Val723GlyfsTer17) c.296_305dup (n.296_305dup) c.577_586dup
17	g.80113334G>A	CA240430	GAA	c.2157G>A (p.Ala719=) c.295G>A (n.295G>A) c.576G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80113334G>C	CA502179252	GAA	c.2157G>C (p.Ala719=) c.295G>C (n.295G>C) c.576G>C	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.80113334G=	CA2277815518	GAA	c.2157G= (p.Ala719=) c.295G= (n.295G=) c.576G=
17	g.80113334G>T	CA502179253	GAA	c.2157G>T (p.Ala719=) c.295G>T (n.295G>T) c.576G>T	ClinVar gnomAD v4
17	g.80113338dup	CA658795275	GAA	c.2161dup (p.Glu721GlyfsTer16) c.299dup (n.299dup) c.580dup	ClinVar dbSNP gnomAD v4
17	g.80113338del	CA913187393	GAA	c.2161del (p.Glu721ArgfsTer?) c.299del (n.299del) c.580del	ClinVar dbSNP gnomAD v4
17	g.80113335G>A	CA401370605	GAA	c.2158G>A (p.Gly720Arg) c.296G>A (n.296G>A) c.577G>A	gnomAD v4
17	g.80113335G>C	CA401370606	GAA	c.2158G>C (p.Gly720Arg) c.296G>C (n.296G>C) c.577G>C
17	g.80113335G>T	CA401370607	GAA	c.2158G>T (p.Gly720Trp) c.296G>T (n.296G>T) c.577G>T	gnomAD v4
17	g.80113336G>A	CA8815631	GAA	c.2159G>A (p.Gly720Glu) c.297G>A (n.297G>A) c.578G>A	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80113336G>C	CA401370608	GAA	c.2159G>C (p.Gly720Ala) c.297G>C (n.297G>C) c.578G>C
17	g.80113336G=	CA2277815519	GAA	c.2159G= (p.Gly720=) c.297G= (n.297G=) c.578G=
17	g.80113336G>T	CA401370609	GAA	c.2159G>T (p.Gly720Val) c.297G>T (n.297G>T) c.578G>T	gnomAD v4
17	g.80113337G>A	CA502179254	GAA	c.2160G>A (p.Gly720=) c.298G>A (n.298G>A) c.579G>A
17	g.80113337G>C	CA502179255	GAA	c.2160G>C (p.Gly720=) c.298G>C (n.298G>C) c.579G>C
17	g.80113337G>T	CA502179257	GAA	c.2160G>T (p.Gly720=) c.298G>T (n.298G>T) c.579G>T	gnomAD v4
17	g.80113338G>A	CA401370610	GAA	c.2161G>A (p.Glu721Lys) c.299G>A (n.299G>A) c.580G>A	gnomAD v4
17	g.80113338G>C	CA8815632	GAA	c.2161G>C (p.Glu721Gln) c.299G>C (n.299G>C) c.580G>C	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80113338G=	CA2277815520	GAA	c.2161G= (p.Glu721=) c.299G= (n.299G=) c.580G=
17	g.80113338G>T	CA401370611	GAA	c.2161G>T (p.Glu721Ter) c.299G>T (n.299G>T) c.580G>T	ClinVar dbSNP gnomAD v4
17	g.80113339A>C	CA401370614	GAA	c.2162A>C (p.Glu721Ala) c.300A>C (n.300A>C) c.581A>C
17	g.80113339A>G	CA401370612	GAA	c.2162A>G (p.Glu721Gly) c.300A>G (n.300A>G) c.581A>G	gnomAD v4
17	g.80113339A>T	CA401370613	GAA	c.2162A>T (p.Glu721Val) c.300A>T (n.300A>T) c.581A>T

Number of alleles fetched