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.80109926_80109927delinsTG	CA2573154964	GAA	c.1327-19_1327-18delinsTG (n.1327-19_1327-18delinsTG)	ClinVar
17	g.80109927del	CA2640287169	GAA	c.1327-18del (n.1327-18del)	gnomAD v4
17	g.80109927A=	CA2277813592	GAA	c.1327-18A= (n.1327-18A=)
17	g.80109927A>C	CA2581285029	GAA	c.1327-18A>C (n.1327-18A>C)	ClinVar
17	g.80109927A>G	CA145752	GAA	c.1327-18A>G (n.1327-18A>G)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80109927A>T	CA2581285028	GAA	c.1327-18A>T (n.1327-18A>T)	gnomAD v4
17	g.80109928_80109942del	CA2810585643	GAA	c.1327-17_1327-3del (n.1327-17_1327-3del)
17	g.80109929G>A	CA627699380	GAA	c.1327-16G>A (n.1327-16G>A)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80109929G=	CA2277813593	GAA	c.1327-16G= (n.1327-16G=)
17	g.80109929G>T	CA627699381	GAA	c.1327-16G>T (n.1327-16G>T)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.80109930T>G	CA2640287181	GAA	c.1327-15T>G (n.1327-15T>G)	gnomAD v4
17	g.80109931T>G	CA2576414057	GAA	c.1327-14T>G (n.1327-14T>G)
17	g.80109932T>A	CA2640287182	GAA	c.1327-13T>A (n.1327-13T>A)	gnomAD v4
17	g.80109933C>G	CA2640287183	GAA	c.1327-12C>G (n.1327-12C>G)	gnomAD v4
17	g.80109933C>T	CA2739268473	GAA	c.1327-12C>T (n.1327-12C>T)	ClinVar
17	g.80109935C>A	CA2640287184	GAA	c.1327-10C>A (n.1327-10C>A)	gnomAD v4
17	g.80109935C>T	CA2640287185	GAA	c.1327-10C>T (n.1327-10C>T)	ClinVar gnomAD v4
17	g.80109936T>C	CA2580095343	GAA	c.1327-9T>C (n.1327-9T>C)	ClinVar gnomAD v4
17	g.80109936T>G	CA2810585645	GAA	c.1327-9T>G (n.1327-9T>G)
17	g.80109937C>A	CA2640287189	GAA	c.1327-8C>A (n.1327-8C>A)	gnomAD v4
17	g.80109937C=	CA2277813594	GAA	c.1327-8C= (n.1327-8C=)
17	g.80109937C>T	CA915952252	GAA	c.1327-8C>T (n.1327-8C>T)	ClinVar dbSNP gnomAD v4
17	g.80109938T>C	CA627699382	GAA	c.1327-7T>C (n.1327-7T>C)	dbSNP gnomAD v2
17	g.80109938T>G	CA8815286	GAA	c.1327-7T>G (n.1327-7T>G)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80109938T=	CA2277813595	GAA	c.1327-7T= (n.1327-7T=)
17	g.80109940C>A	CA627699383	GAA	c.1327-5C>A (n.1327-5C>A)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.80109940C=	CA2277813596	GAA	c.1327-5C= (n.1327-5C=)
17	g.80109940C>G	CA627699385	GAA	c.1327-5C>G (n.1327-5C>G)	dbSNP gnomAD v2 gnomAD v4
17	g.80109940C>T	CA2580095345	GAA	c.1327-5C>T (n.1327-5C>T)	ClinVar gnomAD v4
17	g.80109941C=	CA2277813597	GAA	c.1327-4C= (n.1327-4C=)
17	g.80109941C>G	CA775513620	GAA	c.1327-4C>G (n.1327-4C>G)	dbSNP gnomAD v3 gnomAD v4
17	g.80109941C>T	CA2277813598	GAA	c.1327-4C>T (n.1327-4C>T)	ClinVar dbSNP gnomAD v4
17	g.80109942C>A	CA2576414058	GAA	c.1327-3C>A (n.1327-3C>A)
17	g.80109942C=	CA2277813599	GAA	c.1327-3C= (n.1327-3C=)
17	g.80109942C>T	CA2277813600	GAA	c.1327-3C>T (n.1327-3C>T)	dbSNP gnomAD v4
17	g.80109943A=	CA2277813601	GAA	c.1327-2A= (n.1327-2A=)
17	g.80109943A>C	CA401366173	GAA	c.1327-2A>C (n.1327-2A>C)
17	g.80109943A>G	CA401366177	GAA	c.1327-2A>G (n.1327-2A>G)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80109943A>T	CA401366174	GAA	c.1327-2A>T (n.1327-2A>T)
17	g.80109944G>A	CA401366181	GAA	c.1327-1G>A (n.1327-1G>A)
17	g.80109944G>C	CA401366183	GAA	c.1327-1G>C (n.1327-1G>C)
17	g.80109944G>T	CA401366186	GAA	c.1327-1G>T (n.1327-1G>T)
17	g.80109945G>A	CA401366189	GAA	c.1327G>A (p.Asp443Asn)
17	g.80109945G>C	CA401366192	GAA	c.1327G>C (p.Asp443His)
17	g.80109945G>T	CA401366194	GAA	c.1327G>T (p.Asp443Tyr)
17	g.80109946A>C	CA401366195	GAA	c.1328A>C (p.Asp443Ala)	gnomAD v3 gnomAD v4
17	g.80109946A>G	CA401366196	GAA	c.1328A>G (p.Asp443Gly)
17	g.80109946A>T	CA401366199	GAA	c.1328A>T (p.Asp443Val)	gnomAD v4
17	g.80109947T>A	CA401366200	GAA	c.1329T>A (p.Asp443Glu)
17	g.80109947T>C	CA502178368	GAA	c.1329T>C (p.Asp443=)	dbSNP
17	g.80109947T>G	CA401366201	GAA	c.1329T>G (p.Asp443Glu)
17	g.80109947T=	CA2277813602	GAA	c.1329T= (p.Asp443=)
17	g.80109947dup	CA913014098	GAA	c.1329dup (p.Pro444SerfsTer?)
17	g.80109948C>A	CA401366204	GAA	c.1330C>A (p.Pro444Thr)
17	g.80109948C=	CA2277813603	GAA	c.1330C= (p.Pro444=)
17	g.80109948C>G	CA401366208	GAA	c.1330C>G (p.Pro444Ala)	gnomAD v4
17	g.80109948C>T	CA8815287	GAA	c.1330C>T (p.Pro444Ser)	dbSNP ExAC gnomAD v2 COSMIC
17	g.80109954_80109974dup	CA658824782	GAA	c.1336_1356dup (p.Ala452_Gly453insIleSerSerSerGlyProAla)	ClinVar dbSNP
17	g.80109949C>A	CA401366209	GAA	c.1331C>A (p.Pro444His)
17	g.80109949C>G	CA401366214	GAA	c.1331C>G (p.Pro444Arg)
17	g.80109949C>T	CA401366211	GAA	c.1331C>T (p.Pro444Leu)
17	g.80109950T>A	CA502178369	GAA	c.1332T>A (p.Pro444=)
17	g.80109950T>C	CA8815288	GAA	c.1332T>C (p.Pro444=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80109950T>G	CA502178370	GAA	c.1332T>G (p.Pro444=)
17	g.80109950T=	CA2277813604	GAA	c.1332T= (p.Pro444=)
17	g.80109951G>A	CA401366218	GAA	c.1333G>A (p.Ala445Thr)
17	g.80109951G>C	CA401366220	GAA	c.1333G>C (p.Ala445Pro)
17	g.80109951G>T	CA401366223	GAA	c.1333G>T (p.Ala445Ser)
17	g.80109952C>A	CA401366226	GAA	c.1334C>A (p.Ala445Asp)
17	g.80109952C>G	CA401366228	GAA	c.1334C>G (p.Ala445Gly)	gnomAD v4
17	g.80109952C>T	CA401366232	GAA	c.1334C>T (p.Ala445Val)	gnomAD v4
17	g.80109953C>A	CA502178371	GAA	c.1335C>A (p.Ala445=)
17	g.80109953C>G	CA502178372	GAA	c.1335C>G (p.Ala445=)
17	g.80109953C>T	CA502178373	GAA	c.1335C>T (p.Ala445=)
17	g.80109954A=	CA2277813605	GAA	c.1336A= (p.Ile446=)
17	g.80109954A>C	CA8815289	GAA	c.1336A>C (p.Ile446Leu)	dbSNP ExAC gnomAD v3 gnomAD v4
17	g.80109954A>G	CA8815290	GAA	c.1336A>G (p.Ile446Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80109954A>T	CA401366237	GAA	c.1336A>T (p.Ile446Phe)	gnomAD v4
17	g.80109954dup	CA2499225009	GAA	c.1336dup (p.Ile446AsnfsTer?)	ClinVar dbSNP
17	g.80109955T>A	CA401366242	GAA	c.1337T>A (p.Ile446Asn)
17	g.80109955T>C	CA401366244	GAA	c.1337T>C (p.Ile446Thr)	gnomAD v4
17	g.80109955T>G	CA401366247	GAA	c.1337T>G (p.Ile446Ser)
17	g.80109956C>A	CA502178374	GAA	c.1338C>A (p.Ile446=)
17	g.80109956C=	CA2277813606	GAA	c.1338C= (p.Ile446=)
17	g.80109956C>G	CA401366249	GAA	c.1338C>G (p.Ile446Met)
17	g.80109956C>T	CA294893949	GAA	c.1338C>T (p.Ile446=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80109957A>C	CA401366252	GAA	c.1339A>C (p.Ser447Arg)
17	g.80109957A>G	CA401366257	GAA	c.1339A>G (p.Ser447Gly)
17	g.80109957A>T	CA401366254	GAA	c.1339A>T (p.Ser447Cys)
17	g.80109958G>A	CA401366261	GAA	c.1340G>A (p.Ser447Asn)
17	g.80109958G>C	CA401366263	GAA	c.1340G>C (p.Ser447Thr)
17	g.80109958G>T	CA401366266	GAA	c.1340G>T (p.Ser447Ile)
17	g.80109959C>A	CA401366269	GAA	c.1341C>A (p.Ser447Arg)
17	g.80109959C>G	CA401366271	GAA	c.1341C>G (p.Ser447Arg)
17	g.80109959C>T	CA502178375	GAA	c.1341C>T (p.Ser447=)	ClinVar gnomAD v4
17	g.80109960A>C	CA401366273	GAA	c.1342A>C (p.Ser448Arg)
17	g.80109960A>G	CA401366276	GAA	c.1342A>G (p.Ser448Gly)
17	g.80109960A>T	CA401366279	GAA	c.1342A>T (p.Ser448Cys)
17	g.80109961G>A	CA401366282	GAA	c.1343G>A (p.Ser448Asn)
17	g.80109961G>C	CA8815291	GAA	c.1343G>C (p.Ser448Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80109961G=	CA2277813607	GAA	c.1343G= (p.Ser448=)
17	g.80109961G>T	CA401366286	GAA	c.1343G>T (p.Ser448Ile)	ClinVar dbSNP
17	g.80109962C>A	CA401366291	GAA	c.1344C>A (p.Ser448Arg)
17	g.80109962C=	CA2277813608	GAA	c.1344C= (p.Ser448=)
17	g.80109962C>G	CA401366294	GAA	c.1344C>G (p.Ser448Arg)
17	g.80109962C>T	CA502178376	GAA	c.1344C>T (p.Ser448=)	dbSNP
17	g.80109963T>A	CA401366298	GAA	c.1345T>A (p.Ser449Thr)
17	g.80109963T>C	CA401366300	GAA	c.1345T>C (p.Ser449Pro)
17	g.80109963T>G	CA401366303	GAA	c.1345T>G (p.Ser449Ala)	ClinVar
17	g.80109963T=	CA2277813609	GAA	c.1345T= (p.Ser449=)
17	g.80109964C>A	CA401366305	GAA	c.1346C>A (p.Ser449Ter)
17	g.80109964C=	CA2277813610	GAA	c.1346C= (p.Ser449=)
17	g.80109964C>G	CA401366307	GAA	c.1346C>G (p.Ser449Trp)	gnomAD v4
17	g.80109964C>T	CA8815292	GAA	c.1346C>T (p.Ser449Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80109965_80109968del	CA2580617475	GAA	c.1347_1350del (p.Gly450LeufsTer26)	ClinVar
17	g.80109965_80109983dup	CA916082442	GAA	c.1347_1365dup (p.Arg456GlyfsTer?)	ClinVar dbSNP
17	g.80109965G>A	CA8815293	GAA	c.1347G>A (p.Ser449=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80109965G>C	CA502178377	GAA	c.1347G>C (p.Ser449=)	ClinVar dbSNP
17	g.80109965G=	CA2277813611	GAA	c.1347G= (p.Ser449=)
17	g.80109965G>T	CA502178378	GAA	c.1347G>T (p.Ser449=)
17	g.80109966G>A	CA401366317	GAA	c.1348G>A (p.Gly450Ser)
17	g.80109966G>C	CA401366319	GAA	c.1348G>C (p.Gly450Arg)
17	g.80109966G>T	CA401366321	GAA	c.1348G>T (p.Gly450Cys)	COSMIC
17	g.80109972_80109990del	CA658795252	GAA	c.1354_1372del (p.Ala452ThrfsTer19)
17	g.80109967G>A	CA401366323	GAA	c.1349G>A (p.Gly450Asp)	gnomAD v4
17	g.80109967G>C	CA401366324	GAA	c.1349G>C (p.Gly450Ala)
17	g.80109967G=	CA2277813612	GAA	c.1349G= (p.Gly450=)
17	g.80109967G>T	CA401366326	GAA	c.1349G>T (p.Gly450Val)	dbSNP gnomAD v4
17	g.80109968C>A	CA502178379	GAA	c.1350C>A (p.Gly450=)
17	g.80109968C>G	CA502178380	GAA	c.1350C>G (p.Gly450=)
17	g.80109968C>T	CA502178381	GAA	c.1350C>T (p.Gly450=)	gnomAD v4
17	g.80109969C>A	CA401366335	GAA	c.1351C>A (p.Pro451Thr)
17	g.80109969C=	CA2277813613	GAA	c.1351C= (p.Pro451=)
17	g.80109969C>G	CA401366337	GAA	c.1351C>G (p.Pro451Ala)	dbSNP gnomAD v4
17	g.80109969C>T	CA401366333	GAA	c.1351C>T (p.Pro451Ser)	dbSNP gnomAD v2 gnomAD v4
17	g.80109970C>A	CA401366339	GAA	c.1352C>A (p.Pro451His)
17	g.80109970C=	CA2277813614	GAA	c.1352C= (p.Pro451=)
17	g.80109970C>G	CA8815294	GAA	c.1352C>G (p.Pro451Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80109970C>T	CA401366341	GAA	c.1352C>T (p.Pro451Leu)
17	g.80109971T>A	CA502178382	GAA	c.1353T>A (p.Pro451=)
17	g.80109971T>C	CA502178383	GAA	c.1353T>C (p.Pro451=)
17	g.80109971T>G	CA502178384	GAA	c.1353T>G (p.Pro451=)
17	g.80109972G>A	CA401366343	GAA	c.1354G>A (p.Ala452Thr)	dbSNP gnomAD v2 gnomAD v4
17	g.80109972G>C	CA401366345	GAA	c.1354G>C (p.Ala452Pro)
17	g.80109972G=	CA2277813615	GAA	c.1354G= (p.Ala452=)
17	g.80109972G>T	CA8815295	GAA	c.1354G>T (p.Ala452Ser)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80109972_80109973delinsGC	CA2277813616	GAA	c.1354_1355delinsGC (p.Ala452=)
17	g.80109973C>A	CA401366349	GAA	c.1355C>A (p.Ala452Asp)
17	g.80109973C=	CA2277813617	GAA	c.1355C= (p.Ala452=)
17	g.80109973C>G	CA401366352	GAA	c.1355C>G (p.Ala452Gly)
17	g.80109973C>T	CA401366351	GAA	c.1355C>T (p.Ala452Val)	dbSNP COSMIC
17	g.80109974del	CA658795253	GAA	c.1356del (p.Ser454AlafsTer23)	ClinVar dbSNP
17	g.80109974_80109983del	CA2697555215	GAA	c.1356_1365del (p.Ser454ProfsTer20)	ClinVar
17	g.80109974C>A	CA502178385	GAA	c.1356C>A (p.Ala452=)
17	g.80109974C=	CA2277813618	GAA	c.1356C= (p.Ala452=)
17	g.80109974C>G	CA502178386	GAA	c.1356C>G (p.Ala452=)
17	g.80109974C>T	CA8815296	GAA	c.1356C>T (p.Ala452=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80109975G>A	CA8815297	GAA	c.1357G>A (p.Gly453Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17	g.80109975G>C	CA401366356	GAA	c.1357G>C (p.Gly453Arg)
17	g.80109975G=	CA2277813619	GAA	c.1357G= (p.Gly453=)
17	g.80109975G>T	CA401366358	GAA	c.1357G>T (p.Gly453Trp)	dbSNP gnomAD v3 gnomAD v4
17	g.80109976_80109979del	CA2695227089	GAA	c.1358_1361del (p.Gly453AlafsTer23)
17	g.80109976G>A	CA401366360	GAA	c.1358G>A (p.Gly453Glu)	ClinVar dbSNP gnomAD v4
17	g.80109976G>C	CA401366364	GAA	c.1358G>C (p.Gly453Ala)
17	g.80109976G=	CA2277813620	GAA	c.1358G= (p.Gly453=)
17	g.80109976G>T	CA401366362	GAA	c.1358G>T (p.Gly453Val)
17	g.80109977G>A	CA502178389	GAA	c.1359G>A (p.Gly453=)	ClinVar dbSNP
17	g.80109977G>C	CA502178388	GAA	c.1359G>C (p.Gly453=)	gnomAD v4
17	g.80109977G>T	CA502178387	GAA	c.1359G>T (p.Gly453=)
17	g.80109978A>C	CA401366367	GAA	c.1360A>C (p.Ser454Arg)
17	g.80109978A>G	CA401366368	GAA	c.1360A>G (p.Ser454Gly)
17	g.80109978A>T	CA401366370	GAA	c.1360A>T (p.Ser454Cys)
17	g.80109979G>A	CA401366372	GAA	c.1361G>A (p.Ser454Asn)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.80109979G>C	CA401366374	GAA	c.1361G>C (p.Ser454Thr)
17	g.80109979G=	CA2277813621	GAA	c.1361G= (p.Ser454=)
17	g.80109979G>T	CA401366376	GAA	c.1361G>T (p.Ser454Ile)
17	g.80109980C>A	CA401366378	GAA	c.1362C>A (p.Ser454Arg)
17	g.80109980C>G	CA401366379	GAA	c.1362C>G (p.Ser454Arg)
17	g.80109980C>T	CA502178390	GAA	c.1362C>T (p.Ser454=)	ClinVar gnomAD v4
17	g.80109981T>A	CA401366382	GAA	c.1363T>A (p.Tyr455Asn)
17	g.80109981T>C	CA401366384	GAA	c.1363T>C (p.Tyr455His)
17	g.80109981T>G	CA401366385	GAA	c.1363T>G (p.Tyr455Asp)
17	g.80109982A>C	CA401366387	GAA	c.1364A>C (p.Tyr455Ser)
17	g.80109982A>G	CA401366388	GAA	c.1364A>G (p.Tyr455Cys)	ClinVar
17	g.80109982A>T	CA401366390	GAA	c.1364A>T (p.Tyr455Phe)	gnomAD v4
17	g.80109983del	CA2697555216	GAA	c.1365del (p.Tyr455Ter)	ClinVar
17	g.80109983C>A	CA401366393	GAA	c.1365C>A (p.Tyr455Ter)
17	g.80109983C=	CA2277813622	GAA	c.1365C= (p.Tyr455=)
17	g.80109983C>G	CA401366391	GAA	c.1365C>G (p.Tyr455Ter)
17	g.80109983C>T	CA502178391	GAA	c.1365C>T (p.Tyr455=)	dbSNP gnomAD v2 gnomAD v4
17	g.80109984A>C	CA502178392	GAA	c.1366A>C (p.Arg456=)
17	g.80109984A>G	CA401366396	GAA	c.1366A>G (p.Arg456Gly)	gnomAD v4
17	g.80109984A>T	CA401366397	GAA	c.1366A>T (p.Arg456Trp)	gnomAD v4
17	g.80109985G>A	CA401366399	GAA	c.1367G>A (p.Arg456Lys)
17	g.80109985G>C	CA401366401	GAA	c.1367G>C (p.Arg456Thr)
17	g.80109985G>T	CA401366402	GAA	c.1367G>T (p.Arg456Met)
17	g.80109985_80109986insCTCTGGGCCACCCTCACCTTGACAGGTTTCCCTCTTCCCAGGATCCT	CA2810585655	GAA	c.1367_1368insCTCTGGGCCACCCTCACCTTGACAGGTTTCCCTCTTCCCAGGATCCT (p.Arg456SerfsTer8)
17	g.80109986G>A	CA502178394	GAA	c.1368G>A (p.Arg456=)
17	g.80109986G>C	CA401366403	GAA	c.1368G>C (p.Arg456Ser)
17	g.80109986G>T	CA401366405	GAA	c.1368G>T (p.Arg456Ser)
17	g.80109987C>A	CA401366407	GAA	c.1369C>A (p.Pro457Thr)	ClinVar dbSNP gnomAD v4
17	g.80109987C>G	CA401366409	GAA	c.1369C>G (p.Pro457Ala)
17	g.80109987C>T	CA401366410	GAA	c.1369C>T (p.Pro457Ser)	ClinVar gnomAD v4
17	g.80109989del	CA658795254	GAA	c.1371del (p.Tyr458ThrfsTer19)
17	g.80109988C>A	CA401366412	GAA	c.1370C>A (p.Pro457His)
17	g.80109988C=	CA2277813623	GAA	c.1370C= (p.Pro457=)
17	g.80109988C>G	CA401366413	GAA	c.1370C>G (p.Pro457Arg)	ClinVar
17	g.80109988C>T	CA401366415	GAA	c.1370C>T (p.Pro457Leu)	ClinVar dbSNP
17	g.80109989C>A	CA502178396	GAA	c.1371C>A (p.Pro457=)
17	g.80109989C=	CA2277813624	GAA	c.1371C= (p.Pro457=)
17	g.80109989C>G	CA502178395	GAA	c.1371C>G (p.Pro457=)	dbSNP gnomAD v2 gnomAD v4
17	g.80109989C>T	CA502178397	GAA	c.1371C>T (p.Pro457=)	gnomAD v4
17	g.80109990T>A	CA401366418	GAA	c.1372T>A (p.Tyr458Asn)
17	g.80109990T>C	CA401366421	GAA	c.1372T>C (p.Tyr458His)	ClinVar dbSNP gnomAD v4
17	g.80109990T>G	CA401366419	GAA	c.1372T>G (p.Tyr458Asp)
17	g.80109990T=	CA2277813625	GAA	c.1372T= (p.Tyr458=)
17	g.80109991A=	CA2277813626	GAA	c.1373A= (p.Tyr458=)
17	g.80109991A>C	CA401366423	GAA	c.1373A>C (p.Tyr458Ser)
17	g.80109991A>G	CA401366425	GAA	c.1373A>G (p.Tyr458Cys)	dbSNP gnomAD v2 gnomAD v4
17	g.80109991A>T	CA401366426	GAA	c.1373A>T (p.Tyr458Phe)
17	g.80109995_80109997del	CA658795255	GAA	c.1377_1379del (p.Asp459del)
17	g.80109992C>A	CA401366429	GAA	c.1374C>A (p.Tyr458Ter)
17	g.80109992C=	CA2277813627	GAA	c.1374C= (p.Tyr458=)
17	g.80109992C>G	CA401366431	GAA	c.1374C>G (p.Tyr458Ter)
17	g.80109992C>T	CA145753	GAA	c.1374C>T (p.Tyr458=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80109992_80109993delinsTA	CA2573154965	GAA	c.1374_1375delinsTA (p.Asp459Asn)	ClinVar dbSNP
17	g.80109993G>A	CA198786	GAA	c.1375G>A (p.Asp459Asn)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80109993G>C	CA294893978	GAA	c.1375G>C (p.Asp459His)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17	g.80109993G=	CA2277813628	GAA	c.1375G= (p.Asp459=)
17	g.80109993G>T	CA401366434	GAA	c.1375G>T (p.Asp459Tyr)	ClinVar dbSNP
17	g.80109994A=	CA2277813629	GAA	c.1376A= (p.Asp459=)
17	g.80109994A>C	CA401366436	GAA	c.1376A>C (p.Asp459Ala)
17	g.80109994A>G	CA401366438	GAA	c.1376A>G (p.Asp459Gly)
17	g.80109994A>T	CA401366440	GAA	c.1376A>T (p.Asp459Val)	ClinVar dbSNP
17	g.80109994_80109995del	CA2573154966	GAA	c.1376_1377del (p.Asp459GlyfsTer?)	ClinVar dbSNP
17	g.80109995C>A	CA401366444	GAA	c.1377C>A (p.Asp459Glu)
17	g.80109995C=	CA2277813630	GAA	c.1377C= (p.Asp459=)
17	g.80109995C>G	CA8815299	GAA	c.1377C>G (p.Asp459Glu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80109995C>T	CA8815298	GAA	c.1377C>T (p.Asp459=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17	g.80109995dup	CA916082443	GAA	c.1377dup (p.Glu460ArgfsTer?)	ClinVar dbSNP
17	g.80109996G>A	CA8815300	GAA	c.1378G>A (p.Glu460Lys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
17	g.80109996G>C	CA401366446	GAA	c.1378G>C (p.Glu460Gln)
17	g.80109996G=	CA2277813631	GAA	c.1378G= (p.Glu460=)
17	g.80109996G>T	CA401366448	GAA	c.1378G>T (p.Glu460Ter)
17	g.80109997A>C	CA401366450	GAA	c.1379A>C (p.Glu460Ala)
17	g.80109997A>G	CA401366452	GAA	c.1379A>G (p.Glu460Gly)	ClinVar
17	g.80109997A>T	CA401366454	GAA	c.1379A>T (p.Glu460Val)
17	g.80109998G>A	CA502178401	GAA	c.1380G>A (p.Glu460=)
17	g.80109998G>C	CA294894004	GAA	c.1380G>C (p.Glu460Asp)	ClinVar dbSNP
17	g.80109998G=	CA2277813632	GAA	c.1380G= (p.Glu460=)
17	g.80109998G>T	CA401366457	GAA	c.1380G>T (p.Glu460Asp)
17	g.80109999G>A	CA401366459	GAA	c.1381G>A (p.Gly461Ser)	ClinVar dbSNP COSMIC
17	g.80109999G>C	CA401366461	GAA	c.1381G>C (p.Gly461Arg)
17	g.80109999G=	CA2277813633	GAA	c.1381G= (p.Gly461=)
17	g.80109999G>T	CA401366463	GAA	c.1381G>T (p.Gly461Cys)
17	g.80110000G>A	CA401366468	GAA	c.1382G>A (p.Gly461Asp)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.80110000G>C	CA401366466	GAA	c.1382G>C (p.Gly461Ala)
17	g.80110000G=	CA2277813634	GAA	c.1382G= (p.Gly461=)
17	g.80110000G>T	CA401366464	GAA	c.1382G>T (p.Gly461Val)
17	g.80110001T>A	CA502178405	GAA	c.1383T>A (p.Gly461=)
17	g.80110001T>C	CA294894008	GAA	c.1383T>C (p.Gly461=)	dbSNP
17	g.80110001T>G	CA502178404	GAA	c.1383T>G (p.Gly461=)	dbSNP
17	g.80110001T=	CA2277813635	GAA	c.1383T= (p.Gly461=)
17	g.80110002C>A	CA401366470	GAA	c.1384C>A (p.Leu462Met)
17	g.80110002C>G	CA401366472	GAA	c.1384C>G (p.Leu462Val)
17	g.80110002C>T	CA502178406	GAA	c.1384C>T (p.Leu462=)
17	g.80110003T>A	CA401366474	GAA	c.1385T>A (p.Leu462Gln)
17	g.80110003T>C	CA401366477	GAA	c.1385T>C (p.Leu462Pro)	ClinVar dbSNP gnomAD v4
17	g.80110003T>G	CA401366476	GAA	c.1385T>G (p.Leu462Arg)
17	g.80110003_80110004del	CA2810585660	GAA	c.1385_1386del (p.Leu462ProfsTer?)
17	g.80110004G>A	CA502178408	GAA	c.1386G>A (p.Leu462=)
17	g.80110004G>C	CA502178409	GAA	c.1386G>C (p.Leu462=)
17	g.80110004G>T	CA502178410	GAA	c.1386G>T (p.Leu462=)	ClinVar
17	g.80110004_80110023delinsGCGGAGGGGGGTTTTCATCA	CA2277813636	GAA	c.1386_1405delinsGCGGAGGGGGGTTTTCATCA (p.Leu462=)
17	g.80110005C>A	CA502178411	GAA	c.1387C>A (p.Arg463=)
17	g.80110005C=	CA2277813638	GAA	c.1387C= (p.Arg463=)
17	g.80110005C>G	CA401366479	GAA	c.1387C>G (p.Arg463Gly)
17	g.80110005C>T	CA8815301	GAA	c.1387C>T (p.Arg463Trp)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17	g.80110005_80110023delinsCGGAGGGGGGTTTTCATCA	CA2277813637	GAA	c.1387_1405delinsCGGAGGGGGGTTTTCATCA (p.Arg463=)
17	g.80110006_80110024del	CA919905444	GAA	c.1388_1406del (p.Arg463ProfsTer8)	dbSNP
17	g.80110006G>A	CA10651259	GAA	c.1388G>A (p.Arg463Gln)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.80110006G>C	CA401366484	GAA	c.1388G>C (p.Arg463Pro)
17	g.80110006G=	CA2277813640	GAA	c.1388G= (p.Arg463=)
17	g.80110006G>T	CA401366485	GAA	c.1388G>T (p.Arg463Leu)
17	g.80110006_80110023del	CA2277813639	GAA	c.1388_1405del (p.Arg463_Thr469delinsPro)	ClinVar dbSNP
17	g.80110007G>A	CA502178412	GAA	c.1389G>A (p.Arg463=)
17	g.80110007G>C	CA502178413	GAA	c.1389G>C (p.Arg463=)
17	g.80110007G>T	CA502178414	GAA	c.1389G>T (p.Arg463=)
17	g.80110008A=	CA2277813642	GAA	c.1390A= (p.Arg464=)
17	g.80110008A>C	CA502178417	GAA	c.1390A>C (p.Arg464=)	ClinVar gnomAD v4
17	g.80110008A>G	CA401366486	GAA	c.1390A>G (p.Arg464Gly)
17	g.80110008A>T	CA401366487	GAA	c.1390A>T (p.Arg464Trp)	ClinVar dbSNP COSMIC
17	g.80110008_80110009delinsAG	CA2277813641	GAA	c.1390_1391delinsAG (p.Arg464=)
17	g.80110009G>A	CA8815302	GAA	c.1391G>A (p.Arg464Lys)	dbSNP ExAC gnomAD v2
17	g.80110009G>C	CA401366490	GAA	c.1391G>C (p.Arg464Thr)	dbSNP gnomAD v2 gnomAD v4
17	g.80110009G=	CA2277813643	GAA	c.1391G= (p.Arg464=)
17	g.80110009G>T	CA401366492	GAA	c.1391G>T (p.Arg464Met)	gnomAD v4
17	g.80110014dup	CA627699396	GAA	c.1396dup (p.Val466GlyfsTer?)	ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
17	g.80110014del	CA658795256	GAA	c.1396del (p.Val466PhefsTer11)	ClinVar dbSNP gnomAD v4
17	g.80110010G>A	CA502178419	GAA	c.1392G>A (p.Arg464=)	ClinVar dbSNP COSMIC
17	g.80110010G>C	CA8815303	GAA	c.1392G>C (p.Arg464Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80110010G=	CA2277813644	GAA	c.1392G= (p.Arg464=)
17	g.80110010G>T	CA401366495	GAA	c.1392G>T (p.Arg464Ser)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80110010_80110011delinsTT	CA2580095727	GAA	c.1392_1393delinsTT (p.Arg464_Gly465delinsSerTrp)	ClinVar
17	g.80110011G>A	CA401366496	GAA	c.1393G>A (p.Gly465Arg)	dbSNP gnomAD v2 gnomAD v4
17	g.80110011G>C	CA401366497	GAA	c.1393G>C (p.Gly465Arg)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.80110011G=	CA2277813645	GAA	c.1393G= (p.Gly465=)
17	g.80110011G>T	CA401366499	GAA	c.1393G>T (p.Gly465Trp)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.80110012G>A	CA401366504	GAA	c.1394G>A (p.Gly465Glu)	dbSNP gnomAD v3 gnomAD v4
17	g.80110012G>C	CA401366503	GAA	c.1394G>C (p.Gly465Ala)
17	g.80110012G=	CA2277813646	GAA	c.1394G= (p.Gly465=)
17	g.80110012G>T	CA401366501	GAA	c.1394G>T (p.Gly465Val)	dbSNP
17	g.80110013G>A	CA502178422	GAA	c.1395G>A (p.Gly465=)	ClinVar dbSNP
17	g.80110013G>C	CA502178423	GAA	c.1395G>C (p.Gly465=)
17	g.80110013G>T	CA502178425	GAA	c.1395G>T (p.Gly465=)
17	g.80110014G>A	CA8815304	GAA	c.1396G>A (p.Val466Ile)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80110014G>C	CA401366508	GAA	c.1396G>C (p.Val466Leu)	ClinVar dbSNP
17	g.80110014G=	CA2277813647	GAA	c.1396G= (p.Val466=)
17	g.80110014G>T	CA401366509	GAA	c.1396G>T (p.Val466Phe)	ClinVar gnomAD v3 gnomAD v4
17	g.80110015T>A	CA8815305	GAA	c.1397T>A (p.Val466Asp)	dbSNP ExAC gnomAD v2 COSMIC
17	g.80110015T>C	CA401366511	GAA	c.1397T>C (p.Val466Ala)
17	g.80110015T>G	CA401366513	GAA	c.1397T>G (p.Val466Gly)	dbSNP gnomAD v3 gnomAD v4
17	g.80110015T=	CA2277813648	GAA	c.1397T= (p.Val466=)
17	g.80110016_80110018dup	CA891842405	GAA	c.1398_1400dup (p.Phe467_Ile468insPhe)	ClinVar dbSNP
17	g.80110016T>A	CA502178427	GAA	c.1398T>A (p.Val466=)
17	g.80110016T>C	CA502178428	GAA	c.1398T>C (p.Val466=)
17	g.80110016T>G	CA502178429	GAA	c.1398T>G (p.Val466=)
17	g.80110017T>A	CA401366515	GAA	c.1399T>A (p.Phe467Ile)
17	g.80110017T>C	CA401366517	GAA	c.1399T>C (p.Phe467Leu)
17	g.80110017T>G	CA401366518	GAA	c.1399T>G (p.Phe467Val)	gnomAD v4
17	g.80110018T>A	CA401366521	GAA	c.1400T>A (p.Phe467Tyr)
17	g.80110018T>C	CA401366522	GAA	c.1400T>C (p.Phe467Ser)	ClinVar
17	g.80110018T>G	CA401366524	GAA	c.1400T>G (p.Phe467Cys)
17	g.80110019C>A	CA401366526	GAA	c.1401C>A (p.Phe467Leu)
17	g.80110019C>G	CA401366528	GAA	c.1401C>G (p.Phe467Leu)
17	g.80110019C>T	CA502178433	GAA	c.1401C>T (p.Phe467=)	ClinVar COSMIC
17	g.80110020A=	CA2277813649	GAA	c.1402A= (p.Ile468=)
17	g.80110020A>C	CA401366531	GAA	c.1402A>C (p.Ile468Leu)	ClinVar dbSNP
17	g.80110020A>G	CA401366533	GAA	c.1402A>G (p.Ile468Val)	gnomAD v4
17	g.80110020A>T	CA10605170	GAA	c.1402A>T (p.Ile468Phe)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80110021T>A	CA401366535	GAA	c.1403T>A (p.Ile468Asn)	gnomAD v4
17	g.80110021T>C	CA401366537	GAA	c.1403T>C (p.Ile468Thr)
17	g.80110021T>G	CA401366538	GAA	c.1403T>G (p.Ile468Ser)
17	g.80110022C>A	CA502178436	GAA	c.1404C>A (p.Ile468=)
17	g.80110022C>G	CA401366540	GAA	c.1404C>G (p.Ile468Met)
17	g.80110022C>T	CA502178435	GAA	c.1404C>T (p.Ile468=)
17	g.80110023A>C	CA401366543	GAA	c.1405A>C (p.Thr469Pro)
17	g.80110023A>G	CA401366544	GAA	c.1405A>G (p.Thr469Ala)
17	g.80110023A>T	CA401366547	GAA	c.1405A>T (p.Thr469Ser)
17	g.80110024C>A	CA401366549	GAA	c.1406C>A (p.Thr469Asn)
17	g.80110024C=	CA2277813651	GAA	c.1406C= (p.Thr469=)
17	g.80110024C>G	CA401366551	GAA	c.1406C>G (p.Thr469Ser)
17	g.80110024C>T	CA8815307	GAA	c.1406C>T (p.Thr469Ile)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80110025del	CA2695200354	GAA	c.1407del (p.Asn470ThrfsTer7)	ClinVar
17	g.80110024_80110027delinsCCAA	CA2277813650	GAA	c.1406_1409delinsCCAA (p.Thr469=)
17	g.80110025C>A	CA502178437	GAA	c.1407C>A (p.Thr469=)
17	g.80110025C=	CA2277813652	GAA	c.1407C= (p.Thr469=)
17	g.80110025C>G	CA502178440	GAA	c.1407C>G (p.Thr469=)
17	g.80110025C>T	CA8815308	GAA	c.1407C>T (p.Thr469=)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80110026_80110028del	CA8815306	GAA	c.1408_1410del (p.Asn470del)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80110026A>C	CA401366559	GAA	c.1408A>C (p.Asn470His)	gnomAD v4
17	g.80110026A>G	CA401366557	GAA	c.1408A>G (p.Asn470Asp)
17	g.80110026A>T	CA401366555	GAA	c.1408A>T (p.Asn470Tyr)
17	g.80110027A=	CA2277813653	GAA	c.1409A= (p.Asn470=)
17	g.80110027A>C	CA8815309	GAA	c.1409A>C (p.Asn470Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80110027A>G	CA401366562	GAA	c.1409A>G (p.Asn470Ser)	ClinVar dbSNP
17	g.80110027A>T	CA401366564	GAA	c.1409A>T (p.Asn470Ile)

Number of alleles fetched