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.80110733_80110737del	CA2695227092	GAA	c.1444_1448del (p.Pro482ValfsTer22)
17	g.80110737G>A	CA401366804	GAA	c.1448G>A (p.Gly483Glu)
17	g.80110737G>C	CA401366805	GAA	c.1448G>C (p.Gly483Ala)
17	g.80110737G=	CA2277814065	GAA	c.1448G= (p.Gly483=)
17	g.80110737G>T	CA401366807	GAA	c.1448G>T (p.Gly483Val)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.80110738G>A	CA502178526	GAA	c.1449G>A (p.Gly483=)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.80110738G>C	CA502178527	GAA	c.1449G>C (p.Gly483=)
17	g.80110738G=	CA2277814066	GAA	c.1449G= (p.Gly483=)
17	g.80110738G>T	CA502178528	GAA	c.1449G>T (p.Gly483=)
17	g.80110739T>A	CA401366813	GAA	c.1450T>A (p.Ser484Thr)
17	g.80110739T>C	CA401366811	GAA	c.1450T>C (p.Ser484Pro)	gnomAD v4
17	g.80110739T>G	CA401366810	GAA	c.1450T>G (p.Ser484Ala)	dbSNP
17	g.80110739T=	CA2277814067	GAA	c.1450T= (p.Ser484=)
17	g.80110740C>A	CA401366815	GAA	c.1451C>A (p.Ser484Tyr)
17	g.80110740C=	CA2277814068	GAA	c.1451C= (p.Ser484=)
17	g.80110740C>G	CA401366817	GAA	c.1451C>G (p.Ser484Cys)	dbSNP gnomAD v2
17	g.80110740C>T	CA401366818	GAA	c.1451C>T (p.Ser484Phe)
17	g.80110741dup	CA775514379	GAA	c.1452dup (p.Thr485HisfsTer21)	dbSNP
17	g.80110741C>A	CA502178529	GAA	c.1452C>A (p.Ser484=)
17	g.80110741C>G	CA502178530	GAA	c.1452C>G (p.Ser484=)
17	g.80110741C>T	CA502178531	GAA	c.1452C>T (p.Ser484=)
17	g.80110742A=	CA2277814069	GAA	c.1453A= (p.Thr485=)
17	g.80110742A>C	CA401366821	GAA	c.1453A>C (p.Thr485Pro)	ClinVar dbSNP
17	g.80110742A>G	CA401366822	GAA	c.1453A>G (p.Thr485Ala)	dbSNP gnomAD v2 gnomAD v4
17	g.80110742A>T	CA401366824	GAA	c.1453A>T (p.Thr485Ser)
17	g.80110745_80110757del	CA645369127	GAA	c.1456_1468del (p.Ala486SerfsTer30)
17	g.80110743C>A	CA401366826	GAA	c.1454C>A (p.Thr485Asn)
17	g.80110743C>G	CA401366830	GAA	c.1454C>G (p.Thr485Ser)	gnomAD v4
17	g.80110743C>T	CA401366828	GAA	c.1454C>T (p.Thr485Ile)	ClinVar dbSNP
17	g.80110743_80110744insGGCC	CA2640288297	GAA	c.1454_1455insGGCC (p.Phe487CysfsTer20)	gnomAD v4
17	g.80110744T>A	CA502178532	GAA	c.1455T>A (p.Thr485=)
17	g.80110744T>C	CA502178533	GAA	c.1455T>C (p.Thr485=)	ClinVar dbSNP gnomAD v4
17	g.80110744T>G	CA8815350	GAA	c.1455T>G (p.Thr485=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80110744T=	CA2277814070	GAA	c.1455T= (p.Thr485=)
17	g.80110744_80110745insTCCCCGACTTCACC	CA2640288313	GAA	c.1455_1456insTCCCCGACTTCACC (p.Ala486SerfsTer?)	gnomAD v4
17	g.80110745G>A	CA401366833	GAA	c.1456G>A (p.Ala486Thr)	ClinVar dbSNP
17	g.80110745G>C	CA401366835	GAA	c.1456G>C (p.Ala486Pro)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.80110745G=	CA2277814071	GAA	c.1456G= (p.Ala486=)
17	g.80110745G>T	CA401366836	GAA	c.1456G>T (p.Ala486Ser)	ClinVar dbSNP gnomAD v2
17	g.80110745_80110756del	CA645369126	GAA	c.1456_1467del (p.Ala486_Asp489del)
17	g.80110746C>A	CA401366839	GAA	c.1457C>A (p.Ala486Asp)
17	g.80110746C=	CA2277814072	GAA	c.1457C= (p.Ala486=)
17	g.80110746C>G	CA401366841	GAA	c.1457C>G (p.Ala486Gly)
17	g.80110746C>T	CA401366842	GAA	c.1457C>T (p.Ala486Val)	ClinVar dbSNP gnomAD v4
17	g.80110747del	CA2640288322	GAA	c.1458del (p.Phe487SerfsTer?)	gnomAD v4
17	g.80110747C>A	CA502178534	GAA	c.1458C>A (p.Ala486=)
17	g.80110747C=	CA2277814073	GAA	c.1458C= (p.Ala486=)
17	g.80110747C>G	CA502178535	GAA	c.1458C>G (p.Ala486=)
17	g.80110747C>T	CA294894863	GAA	c.1458C>T (p.Ala486=)	ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
17	g.80110748T>A	CA401366844	GAA	c.1459T>A (p.Phe487Ile)
17	g.80110748T>C	CA401366846	GAA	c.1459T>C (p.Phe487Leu)
17	g.80110748T>G	CA401366848	GAA	c.1459T>G (p.Phe487Val)	gnomAD v4
17	g.80110749T>A	CA401366853	GAA	c.1460T>A (p.Phe487Tyr)
17	g.80110749T>C	CA401366851	GAA	c.1460T>C (p.Phe487Ser)	gnomAD v4
17	g.80110749T>G	CA401366850	GAA	c.1460T>G (p.Phe487Cys)
17	g.80110749T=	CA2277814074	GAA	c.1460T= (p.Phe487=)
17	g.80110750C>A	CA401366854	GAA	c.1461C>A (p.Phe487Leu)
17	g.80110750C>G	CA401366857	GAA	c.1461C>G (p.Phe487Leu)	ClinVar
17	g.80110750C>T	CA502178536	GAA	c.1461C>T (p.Phe487=)	ClinVar
17	g.80110753dup	CA916082444	GAA	c.1464dup (p.Asp489ArgfsTer17)	ClinVar dbSNP gnomAD v4
17	g.80110751C>A	CA401366858	GAA	c.1462C>A (p.Pro488Thr)
17	g.80110751C=	CA2277814075	GAA	c.1462C= (p.Pro488=)
17	g.80110751C>G	CA8815351	GAA	c.1462C>G (p.Pro488Ala)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80110751C>T	CA401366859	GAA	c.1462C>T (p.Pro488Ser)	gnomAD v4
17	g.80110752C>A	CA401366863	GAA	c.1463C>A (p.Pro488His)
17	g.80110752C>G	CA401366866	GAA	c.1463C>G (p.Pro488Arg)
17	g.80110752C>T	CA401366865	GAA	c.1463C>T (p.Pro488Leu)	ClinVar dbSNP gnomAD v4 COSMIC
17	g.80110753C>A	CA502178537	GAA	c.1464C>A (p.Pro488=)
17	g.80110753C=	CA2277814076	GAA	c.1464C= (p.Pro488=)
17	g.80110753C>G	CA502178538	GAA	c.1464C>G (p.Pro488=)
17	g.80110753C>T	CA8815352	GAA	c.1464C>T (p.Pro488=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80110754G>A	CA220390	GAA	c.1465G>A (p.Asp489Asn)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80110754G>C	CA401366870	GAA	c.1465G>C (p.Asp489His)
17	g.80110754G=	CA2277814077	GAA	c.1465G= (p.Asp489=)
17	g.80110754G>T	CA401366871	GAA	c.1465G>T (p.Asp489Tyr)
17	g.80110755A>C	CA401366874	GAA	c.1466A>C (p.Asp489Ala)
17	g.80110755A>G	CA401366876	GAA	c.1466A>G (p.Asp489Gly)	ClinVar
17	g.80110755A>T	CA401366877	GAA	c.1466A>T (p.Asp489Val)
17	g.80110756C>A	CA401366879	GAA	c.1467C>A (p.Asp489Glu)
17	g.80110756C>G	CA401366881	GAA	c.1467C>G (p.Asp489Glu)
17	g.80110756C>T	CA502178539	GAA	c.1467C>T (p.Asp489=)
17	g.80110757T>A	CA401366887	GAA	c.1468T>A (p.Phe490Ile)
17	g.80110757T>C	CA401366885	GAA	c.1468T>C (p.Phe490Leu)	ClinVar dbSNP gnomAD v4
17	g.80110757T>G	CA401366883	GAA	c.1468T>G (p.Phe490Val)
17	g.80110758T>A	CA401366889	GAA	c.1469T>A (p.Phe490Tyr)
17	g.80110758T>C	CA401366891	GAA	c.1469T>C (p.Phe490Ser)
17	g.80110758T>G	CA401366893	GAA	c.1469T>G (p.Phe490Cys)	ClinVar
17	g.80110759C>A	CA401366895	GAA	c.1470C>A (p.Phe490Leu)
17	g.80110759C>G	CA401366897	GAA	c.1470C>G (p.Phe490Leu)
17	g.80110759C>T	CA502178540	GAA	c.1470C>T (p.Phe490=)
17	g.80110761_80110763del	CA2580095748	GAA	c.1472_1474del (p.Thr491del)	ClinVar
17	g.80110760A>C	CA401366899	GAA	c.1471A>C (p.Thr491Pro)
17	g.80110760A>G	CA401366900	GAA	c.1471A>G (p.Thr491Ala)
17	g.80110760A>T	CA401366902	GAA	c.1471A>T (p.Thr491Ser)
17	g.80110761C>A	CA401366904	GAA	c.1472C>A (p.Thr491Asn)
17	g.80110761C>G	CA401366905	GAA	c.1472C>G (p.Thr491Ser)
17	g.80110761C>T	CA401366906	GAA	c.1472C>T (p.Thr491Ile)
17	g.80110762C>A	CA502178541	GAA	c.1473C>A (p.Thr491=)
17	g.80110762C>G	CA502178543	GAA	c.1473C>G (p.Thr491=)
17	g.80110762C>T	CA502178542	GAA	c.1473C>T (p.Thr491=)
17	g.80110763A>C	CA401366910	GAA	c.1474A>C (p.Asn492His)
17	g.80110763A>G	CA401366912	GAA	c.1474A>G (p.Asn492Asp)	gnomAD v4
17	g.80110763A>T	CA401366909	GAA	c.1474A>T (p.Asn492Tyr)
17	g.80110764A>C	CA401366915	GAA	c.1475A>C (p.Asn492Thr)
17	g.80110764A>G	CA401366916	GAA	c.1475A>G (p.Asn492Ser)	gnomAD v4
17	g.80110764A>T	CA401366917	GAA	c.1475A>T (p.Asn492Ile)
17	g.80110765_80110771dup	CA2695227093	GAA	c.1476_1482dup (p.Ala495ProfsTer13)
17	g.80110765C>A	CA401366919	GAA	c.1476C>A (p.Asn492Lys)
17	g.80110765C>G	CA401366921	GAA	c.1476C>G (p.Asn492Lys)
17	g.80110765C>T	CA502178544	GAA	c.1476C>T (p.Asn492=)
17	g.80110766C>A	CA401366923	GAA	c.1477C>A (p.Pro493Thr)
17	g.80110766C=	CA2277814078	GAA	c.1477C= (p.Pro493=)
17	g.80110766C>G	CA401366924	GAA	c.1477C>G (p.Pro493Ala)
17	g.80110766C>T	CA401366926	GAA	c.1477C>T (p.Pro493Ser)	ClinVar dbSNP
17	g.80110767C>A	CA401366928	GAA	c.1478C>A (p.Pro493His)	dbSNP
17	g.80110767C=	CA2277814079	GAA	c.1478C= (p.Pro493=)
17	g.80110767C>G	CA401366930	GAA	c.1478C>G (p.Pro493Arg)	gnomAD v4
17	g.80110767C>T	CA16608675	GAA	c.1478C>T (p.Pro493Leu)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80110768C>A	CA502178545	GAA	c.1479C>A (p.Pro493=)
17	g.80110768C>G	CA502178547	GAA	c.1479C>G (p.Pro493=)
17	g.80110768C>T	CA502178546	GAA	c.1479C>T (p.Pro493=)	gnomAD v4
17	g.80110769A=	CA2277814080	GAA	c.1480A= (p.Thr494=)
17	g.80110769A>C	CA401366937	GAA	c.1480A>C (p.Thr494Pro)
17	g.80110769A>G	CA401366935	GAA	c.1480A>G (p.Thr494Ala)
17	g.80110769A>T	CA401366933	GAA	c.1480A>T (p.Thr494Ser)	dbSNP
17	g.80110770C>A	CA401366938	GAA	c.1481C>A (p.Thr494Lys)	gnomAD v4
17	g.80110770C>G	CA401366941	GAA	c.1481C>G (p.Thr494Arg)
17	g.80110770C>T	CA401366943	GAA	c.1481C>T (p.Thr494Ile)	gnomAD v4
17	g.80110771A=	CA2277814081	GAA	c.1482A= (p.Thr494=)
17	g.80110771A>C	CA502178548	GAA	c.1482A>C (p.Thr494=)
17	g.80110771A>G	CA8815353	GAA	c.1482A>G (p.Thr494=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80110771A>T	CA502178549	GAA	c.1482A>T (p.Thr494=)
17	g.80110772G>A	CA401366946	GAA	c.1483G>A (p.Ala495Thr)	dbSNP COSMIC
17	g.80110772G>C	CA401366947	GAA	c.1483G>C (p.Ala495Pro)
17	g.80110772G>T	CA401366950	GAA	c.1483G>T (p.Ala495Ser)
17	g.80110773C>A	CA401366952	GAA	c.1484C>A (p.Ala495Asp)
17	g.80110773C=	CA2277814082	GAA	c.1484C= (p.Ala495=)
17	g.80110773C>G	CA401366954	GAA	c.1484C>G (p.Ala495Gly)
17	g.80110773C>T	CA401366956	GAA	c.1484C>T (p.Ala495Val)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.80110774C>A	CA502178550	GAA	c.1485C>A (p.Ala495=)
17	g.80110774C=	CA2277814083	GAA	c.1485C= (p.Ala495=)
17	g.80110774C>G	CA502178551	GAA	c.1485C>G (p.Ala495=)
17	g.80110774C>T	CA8815354	GAA	c.1485C>T (p.Ala495=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80110775C>A	CA401366959	GAA	c.1486C>A (p.Leu496Met)
17	g.80110775C=	CA2277814084	GAA	c.1486C= (p.Leu496=)
17	g.80110775C>G	CA401366961	GAA	c.1486C>G (p.Leu496Val)
17	g.80110775C>T	CA502178552	GAA	c.1486C>T (p.Leu496=)	ClinVar dbSNP
17	g.80110776T>A	CA401366965	GAA	c.1487T>A (p.Leu496Gln)
17	g.80110776T>C	CA401366967	GAA	c.1487T>C (p.Leu496Pro)
17	g.80110776T>G	CA401366963	GAA	c.1487T>G (p.Leu496Arg)
17	g.80110777G>A	CA8815355	GAA	c.1488G>A (p.Leu496=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80110777G>C	CA502178553	GAA	c.1488G>C (p.Leu496=)
17	g.80110777G=	CA2277814085	GAA	c.1488G= (p.Leu496=)
17	g.80110777G>T	CA502178554	GAA	c.1488G>T (p.Leu496=)
17	g.80110778G>A	CA401366970	GAA	c.1489G>A (p.Ala497Thr)
17	g.80110778G>C	CA401366972	GAA	c.1489G>C (p.Ala497Pro)	gnomAD v4
17	g.80110778G>T	CA401366973	GAA	c.1489G>T (p.Ala497Ser)
17	g.80110779C>A	CA401366975	GAA	c.1490C>A (p.Ala497Asp)
17	g.80110779C>G	CA401366977	GAA	c.1490C>G (p.Ala497Gly)	COSMIC
17	g.80110779C>T	CA401366979	GAA	c.1490C>T (p.Ala497Val)
17	g.80110780C>A	CA502178555	GAA	c.1491C>A (p.Ala497=)
17	g.80110780C=	CA2277814086	GAA	c.1491C= (p.Ala497=)
17	g.80110780C>G	CA502178556	GAA	c.1491C>G (p.Ala497=)
17	g.80110780C>T	CA8815356	GAA	c.1491C>T (p.Ala497=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80110781T>A	CA401366981	GAA	c.1492T>A (p.Trp498Arg)
17	g.80110781T>C	CA401366983	GAA	c.1492T>C (p.Trp498Arg)	gnomAD v4
17	g.80110781T>G	CA401366985	GAA	c.1492T>G (p.Trp498Gly)
17	g.80110782G>A	CA401366987	GAA	c.1493G>A (p.Trp498Ter)
17	g.80110782G>C	CA401366989	GAA	c.1493G>C (p.Trp498Ser)	gnomAD v4
17	g.80110782G>T	CA401366991	GAA	c.1493G>T (p.Trp498Leu)
17	g.80110783del	CA2695200355	GAA	c.1494del (p.Trp498CysfsTer22)	ClinVar
17	g.80110783G>A	CA401366993	GAA	c.1494G>A (p.Trp498Ter)	ClinVar dbSNP
17	g.80110783G>C	CA401366996	GAA	c.1494G>C (p.Trp498Cys)	dbSNP gnomAD v3 gnomAD v4
17	g.80110783G=	CA2277814087	GAA	c.1494G= (p.Trp498=)
17	g.80110783G>T	CA401366994	GAA	c.1494G>T (p.Trp498Cys)
17	g.80110784T>A	CA198789	GAA	c.1495T>A (p.Trp499Arg)	dbSNP
17	g.80110784T>C	CA401366999	GAA	c.1495T>C (p.Trp499Arg)
17	g.80110784T>G	CA401367001	GAA	c.1495T>G (p.Trp499Gly)
17	g.80110784T=	CA2277814088	GAA	c.1495T= (p.Trp499=)
17	g.80110785G>A	CA8815357	GAA	c.1496G>A (p.Trp499Ter)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80110785G>C	CA401367003	GAA	c.1496G>C (p.Trp499Ser)
17	g.80110785G=	CA2277814089	GAA	c.1496G= (p.Trp499=)
17	g.80110785G>T	CA401367005	GAA	c.1496G>T (p.Trp499Leu)
17	g.80110786G>A	CA401367008	GAA	c.1497G>A (p.Trp499Ter)	ClinVar
17	g.80110786G>C	CA401367009	GAA	c.1497G>C (p.Trp499Cys)
17	g.80110786G>T	CA401367011	GAA	c.1497G>T (p.Trp499Cys)
17	g.80110786_80110801delinsGGAGGACATGGTGGCT	CA2277814090	GAA	c.1497_1512delinsGGAGGACATGGTGGCT (p.Trp499=)
17	g.80110787G>A	CA401367013	GAA	c.1498G>A (p.Glu500Lys)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.80110787G>C	CA401367015	GAA	c.1498G>C (p.Glu500Gln)
17	g.80110787G=	CA2277814091	GAA	c.1498G= (p.Glu500=)
17	g.80110787G>T	CA401367017	GAA	c.1498G>T (p.Glu500Ter)
17	g.80110790_80110804del	CA16620647	GAA	c.1501_1515del (p.Asp501_Glu505del)	ClinVar dbSNP gnomAD v4
17	g.80110788A=	CA2277814092	GAA	c.1499A= (p.Glu500=)
17	g.80110788A>C	CA401367020	GAA	c.1499A>C (p.Glu500Ala)
17	g.80110788A>G	CA401367022	GAA	c.1499A>G (p.Glu500Gly)	dbSNP gnomAD v4
17	g.80110788A>T	CA401367021	GAA	c.1499A>T (p.Glu500Val)
17	g.80110789G>A	CA294894891	GAA	c.1500G>A (p.Glu500=)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.80110789G>C	CA401367024	GAA	c.1500G>C (p.Glu500Asp)	gnomAD v4
17	g.80110789G=	CA2277814093	GAA	c.1500G= (p.Glu500=)
17	g.80110789G>T	CA401367026	GAA	c.1500G>T (p.Glu500Asp)
17	g.80110790G>A	CA401367028	GAA	c.1501G>A (p.Asp501Asn)
17	g.80110790G>C	CA401367029	GAA	c.1501G>C (p.Asp501His)
17	g.80110790G>T	CA401367031	GAA	c.1501G>T (p.Asp501Tyr)
17	g.80110791A>C	CA401367033	GAA	c.1502A>C (p.Asp501Ala)
17	g.80110791A>G	CA401367034	GAA	c.1502A>G (p.Asp501Gly)	ClinVar dbSNP COSMIC
17	g.80110791A>T	CA401367036	GAA	c.1502A>T (p.Asp501Val)
17	g.80110792C>A	CA401367038	GAA	c.1503C>A (p.Asp501Glu)
17	g.80110792C>G	CA401367040	GAA	c.1503C>G (p.Asp501Glu)
17	g.80110792C>T	CA502178563	GAA	c.1503C>T (p.Asp501=)
17	g.80110793A=	CA2277814094	GAA	c.1504A= (p.Met502=)
17	g.80110793A>C	CA401367042	GAA	c.1504A>C (p.Met502Leu)	gnomAD v4
17	g.80110793A>G	CA8815358	GAA	c.1504A>G (p.Met502Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80110793A>T	CA401367045	GAA	c.1504A>T (p.Met502Leu)
17	g.80110793_80110796delinsATGG	CA2277814095	GAA	c.1504_1507delinsATGG (p.Met502=)
17	g.80110794T>A	CA401367051	GAA	c.1505T>A (p.Met502Lys)
17	g.80110794T>C	CA401367048	GAA	c.1505T>C (p.Met502Thr)	dbSNP
17	g.80110794T>G	CA401367049	GAA	c.1505T>G (p.Met502Arg)	dbSNP
17	g.80110794T=	CA2277814096	GAA	c.1505T= (p.Met502=)
17	g.80110797_80110799del	CA627699576	GAA	c.1508_1510del (p.Val503del)	dbSNP gnomAD v2
17	g.80110795G>A	CA401367053	GAA	c.1506G>A (p.Met502Ile)
17	g.80110795G>C	CA401367055	GAA	c.1506G>C (p.Met502Ile)
17	g.80110795G>T	CA401367057	GAA	c.1506G>T (p.Met502Ile)
17	g.80110796del	CA2695227094	GAA	c.1507del (p.Val503TrpfsTer17)
17	g.80110796G>A	CA401367059	GAA	c.1507G>A (p.Val503Met)
17	g.80110796G>C	CA401367061	GAA	c.1507G>C (p.Val503Leu)
17	g.80110796G>T	CA401367063	GAA	c.1507G>T (p.Val503Leu)
17	g.80110797T>A	CA401367065	GAA	c.1508T>A (p.Val503Glu)
17	g.80110797T>C	CA401367066	GAA	c.1508T>C (p.Val503Ala)	ClinVar
17	g.80110797T>G	CA401367067	GAA	c.1508T>G (p.Val503Gly)
17	g.80110798G>A	CA502178573	GAA	c.1509G>A (p.Val503=)	ClinVar dbSNP gnomAD v4
17	g.80110798G>C	CA502178572	GAA	c.1509G>C (p.Val503=)
17	g.80110798G>T	CA502178571	GAA	c.1509G>T (p.Val503=)
17	g.80110798_80110800del	CA658795258	GAA	c.1509_1511del (p.Ala504del)
17	g.80110799G>A	CA401367068	GAA	c.1510G>A (p.Ala504Thr)	ClinVar dbSNP gnomAD v4
17	g.80110799G>C	CA401367069	GAA	c.1510G>C (p.Ala504Pro)
17	g.80110799G>T	CA401367070	GAA	c.1510G>T (p.Ala504Ser)	gnomAD v4
17	g.80110800C>A	CA401367072	GAA	c.1511C>A (p.Ala504Asp)
17	g.80110800C>G	CA401367073	GAA	c.1511C>G (p.Ala504Gly)
17	g.80110800C>T	CA401367071	GAA	c.1511C>T (p.Ala504Val)	gnomAD v4
17	g.80110801T>A	CA502178575	GAA	c.1512T>A (p.Ala504=)
17	g.80110801T>C	CA502178576	GAA	c.1512T>C (p.Ala504=)
17	g.80110801T>G	CA502178577	GAA	c.1512T>G (p.Ala504=)
17	g.80110802G>A	CA401367075	GAA	c.1513G>A (p.Glu505Lys)
17	g.80110802G>C	CA401367074	GAA	c.1513G>C (p.Glu505Gln)
17	g.80110802G>T	CA401367076	GAA	c.1513G>T (p.Glu505Ter)	gnomAD v4
17	g.80110803A=	CA2277814097	GAA	c.1514A= (p.Glu505=)
17	g.80110803A>C	CA401367077	GAA	c.1514A>C (p.Glu505Ala)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.80110803A>G	CA401367078	GAA	c.1514A>G (p.Glu505Gly)
17	g.80110803A>T	CA401367079	GAA	c.1514A>T (p.Glu505Val)
17	g.80110804G>A	CA502178578	GAA	c.1515G>A (p.Glu505=)	gnomAD v4
17	g.80110804G>C	CA401367080	GAA	c.1515G>C (p.Glu505Asp)
17	g.80110804G>T	CA401367081	GAA	c.1515G>T (p.Glu505Asp)
17	g.80110805T>A	CA401367082	GAA	c.1516T>A (p.Phe506Ile)
17	g.80110805T>C	CA401367083	GAA	c.1516T>C (p.Phe506Leu)
17	g.80110805T>G	CA401367084	GAA	c.1516T>G (p.Phe506Val)
17	g.80110806T>A	CA401367085	GAA	c.1517T>A (p.Phe506Tyr)
17	g.80110806T>C	CA401367086	GAA	c.1517T>C (p.Phe506Ser)
17	g.80110806T>G	CA401367087	GAA	c.1517T>G (p.Phe506Cys)
17	g.80110806T=	CA2277814098	GAA	c.1517T= (p.Phe506=)
17	g.80110807C>A	CA401367088	GAA	c.1518C>A (p.Phe506Leu)
17	g.80110807C=	CA2277814099	GAA	c.1518C= (p.Phe506=)
17	g.80110807C>G	CA401367089	GAA	c.1518C>G (p.Phe506Leu)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.80110807C>T	CA502178579	GAA	c.1518C>T (p.Phe506=)	ClinVar dbSNP
17	g.80110808dup	CA1139665922	GAA	c.1519dup (p.His507ProfsTer2)	ClinVar dbSNP
17	g.80110808C>A	CA401367090	GAA	c.1519C>A (p.His507Asn)
17	g.80110808C>G	CA401367092	GAA	c.1519C>G (p.His507Asp)
17	g.80110808C>T	CA401367091	GAA	c.1519C>T (p.His507Tyr)	gnomAD v4
17	g.80110809A>C	CA401367093	GAA	c.1520A>C (p.His507Pro)
17	g.80110809A>G	CA401367094	GAA	c.1520A>G (p.His507Arg)
17	g.80110809A>T	CA401367095	GAA	c.1520A>T (p.His507Leu)
17	g.80110810T>A	CA401367096	GAA	c.1521T>A (p.His507Gln)
17	g.80110810T>C	CA294894897	GAA	c.1521T>C (p.His507=)	dbSNP gnomAD v4
17	g.80110810T>G	CA401367097	GAA	c.1521T>G (p.His507Gln)
17	g.80110810T=	CA2277814100	GAA	c.1521T= (p.His507=)
17	g.80110811G>A	CA401367098	GAA	c.1522G>A (p.Asp508Asn)
17	g.80110811G>C	CA401367099	GAA	c.1522G>C (p.Asp508His)
17	g.80110811G>T	CA401367100	GAA	c.1522G>T (p.Asp508Tyr)	dbSNP gnomAD v4
17	g.80110812A>C	CA401367101	GAA	c.1523A>C (p.Asp508Ala)
17	g.80110812A>G	CA401367102	GAA	c.1523A>G (p.Asp508Gly)
17	g.80110812A>T	CA401367103	GAA	c.1523A>T (p.Asp508Val)
17	g.80110813C>A	CA401367105	GAA	c.1524C>A (p.Asp508Glu)
17	g.80110813C>G	CA401367104	GAA	c.1524C>G (p.Asp508Glu)
17	g.80110813C>T	CA502178584	GAA	c.1524C>T (p.Asp508=)	gnomAD v4
17	g.80110814C>A	CA401367106	GAA	c.1525C>A (p.Gln509Lys)
17	g.80110814C>G	CA401367108	GAA	c.1525C>G (p.Gln509Glu)
17	g.80110814C>T	CA401367107	GAA	c.1525C>T (p.Gln509Ter)	ClinVar
17	g.80110815A=	CA2277814101	GAA	c.1526A= (p.Gln509=)
17	g.80110815A>C	CA401367109	GAA	c.1526A>C (p.Gln509Pro)
17	g.80110815A>G	CA401367110	GAA	c.1526A>G (p.Gln509Arg)
17	g.80110815A>T	CA401367111	GAA	c.1526A>T (p.Gln509Leu)	dbSNP
17	g.80110816G>A	CA502178586	GAA	c.1527G>A (p.Gln509=)	ClinVar
17	g.80110816G>C	CA401367112	GAA	c.1527G>C (p.Gln509His)
17	g.80110816G>T	CA401367113	GAA	c.1527G>T (p.Gln509His)
17	g.80110817G>A	CA401367114	GAA	c.1528G>A (p.Val510Met)	gnomAD v4
17	g.80110817G>C	CA401367115	GAA	c.1528G>C (p.Val510Leu)
17	g.80110817G>T	CA401367116	GAA	c.1528G>T (p.Val510Leu)
17	g.80110818T>A	CA401367117	GAA	c.1529T>A (p.Val510Glu)
17	g.80110818T>C	CA401367118	GAA	c.1529T>C (p.Val510Ala)
17	g.80110818T>G	CA294894901	GAA	c.1529T>G (p.Val510Gly)	dbSNP
17	g.80110818T=	CA2277814102	GAA	c.1529T= (p.Val510=)
17	g.80110819G>A	CA502178591	GAA	c.1530G>A (p.Val510=)	dbSNP
17	g.80110819G>C	CA502178593	GAA	c.1530G>C (p.Val510=)
17	g.80110819G>T	CA502178594	GAA	c.1530G>T (p.Val510=)
17	g.80110820C>A	CA401367121	GAA	c.1531C>A (p.Pro511Thr)
17	g.80110820C>G	CA401367120	GAA	c.1531C>G (p.Pro511Ala)
17	g.80110820C>T	CA401367119	GAA	c.1531C>T (p.Pro511Ser)	gnomAD v4
17	g.80110821C>A	CA401367122	GAA	c.1532C>A (p.Pro511His)
17	g.80110821C=	CA2277814103	GAA	c.1532C= (p.Pro511=)
17	g.80110821C>G	CA401367123	GAA	c.1532C>G (p.Pro511Arg)
17	g.80110821C>T	CA294894906	GAA	c.1532C>T (p.Pro511Leu)	ClinVar dbSNP gnomAD v4
17	g.80110822C>A	CA502178597	GAA	c.1533C>A (p.Pro511=)
17	g.80110822C=	CA2277814104	GAA	c.1533C= (p.Pro511=)
17	g.80110822C>G	CA502178599	GAA	c.1533C>G (p.Pro511=)	ClinVar dbSNP gnomAD v4
17	g.80110822C>T	CA502178600	GAA	c.1533C>T (p.Pro511=)
17	g.80110823T>A	CA401367124	GAA	c.1534T>A (p.Phe512Ile)
17	g.80110823T>C	CA401367125	GAA	c.1534T>C (p.Phe512Leu)
17	g.80110823T>G	CA401367126	GAA	c.1534T>G (p.Phe512Val)	gnomAD v4
17	g.80110824T>A	CA401367127	GAA	c.1535T>A (p.Phe512Tyr)
17	g.80110824T>C	CA401367128	GAA	c.1535T>C (p.Phe512Ser)
17	g.80110824T>G	CA401367129	GAA	c.1535T>G (p.Phe512Cys)
17	g.80110825C>A	CA8815360	GAA	c.1536C>A (p.Phe512Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80110825C=	CA2277814105	GAA	c.1536C= (p.Phe512=)
17	g.80110825C>G	CA401367130	GAA	c.1536C>G (p.Phe512Leu)
17	g.80110825C>T	CA8815359	GAA	c.1536C>T (p.Phe512=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17	g.80110826G>A	CA8815361	GAA	c.1537G>A (p.Asp513Asn)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80110826G>C	CA401367132	GAA	c.1537G>C (p.Asp513His)	gnomAD v4
17	g.80110826G=	CA2277814106	GAA	c.1537G= (p.Asp513=)
17	g.80110826G>T	CA401367131	GAA	c.1537G>T (p.Asp513Tyr)
17	g.80110827A=	CA2277814107	GAA	c.1538A= (p.Asp513=)
17	g.80110827A>C	CA401367133	GAA	c.1538A>C (p.Asp513Ala)
17	g.80110827A>G	CA401367134	GAA	c.1538A>G (p.Asp513Gly)	ClinVar dbSNP
17	g.80110827A>T	CA401367135	GAA	c.1538A>T (p.Asp513Val)
17	g.80110828C>A	CA401367136	GAA	c.1539C>A (p.Asp513Glu)
17	g.80110828C=	CA2277814108	GAA	c.1539C= (p.Asp513=)
17	g.80110828C>G	CA401367137	GAA	c.1539C>G (p.Asp513Glu)	gnomAD v4
17	g.80110828C>T	CA8815362	GAA	c.1539C>T (p.Asp513=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80110828_80110829delinsCG	CA2277814109	GAA	c.1539_1540delinsCG (p.Asp513=)
17	g.80110829G>A	CA8815363	GAA	c.1540G>A (p.Gly514Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80110829G>C	CA401367139	GAA	c.1540G>C (p.Gly514Arg)
17	g.80110829G=	CA2277814111	GAA	c.1540G= (p.Gly514=)
17	g.80110829G>T	CA401367138	GAA	c.1540G>T (p.Gly514Cys)
17	g.80110830del	CA2277814110	GAA	c.1541del (p.Gly514AlafsTer6)	ClinVar dbSNP
17	g.80110829_80110832dup	CA2640288557	GAA	c.1540_1543dup (p.Met515ArgfsTer5)	gnomAD v4
17	g.80110830G>A	CA401367140	GAA	c.1541G>A (p.Gly514Asp)
17	g.80110830G>C	CA401367141	GAA	c.1541G>C (p.Gly514Ala)	gnomAD v4
17	g.80110830G>T	CA401367142	GAA	c.1541G>T (p.Gly514Val)
17	g.80110831C>A	CA502178602	GAA	c.1542C>A (p.Gly514=)
17	g.80110831C=	CA2277814112	GAA	c.1542C= (p.Gly514=)
17	g.80110831C>G	CA502178603	GAA	c.1542C>G (p.Gly514=)
17	g.80110831C>T	CA502178604	GAA	c.1542C>T (p.Gly514=)	dbSNP
17	g.80110832A=	CA2277814113	GAA	c.1543A= (p.Met515=)
17	g.80110832A>C	CA401367143	GAA	c.1543A>C (p.Met515Leu)	dbSNP gnomAD v4
17	g.80110832A>G	CA401367144	GAA	c.1543A>G (p.Met515Val)
17	g.80110832A>T	CA401367145	GAA	c.1543A>T (p.Met515Leu)	gnomAD v4
17	g.80110832_80110833del	CA2576414101	GAA	c.1543_1544del (p.Met515ValfsTer3)
17	g.80110833T>A	CA401367146	GAA	c.1544T>A (p.Met515Lys)
17	g.80110833T>C	CA401367148	GAA	c.1544T>C (p.Met515Thr)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.80110833T>G	CA401367147	GAA	c.1544T>G (p.Met515Arg)
17	g.80110833T=	CA2277814114	GAA	c.1544T= (p.Met515=)
17	g.80110834G>A	CA401367149	GAA	c.1545G>A (p.Met515Ile)
17	g.80110834G>C	CA401367150	GAA	c.1545G>C (p.Met515Ile)
17	g.80110834G>T	CA401367151	GAA	c.1545G>T (p.Met515Ile)
17	g.80110835T>A	CA401367152	GAA	c.1546T>A (p.Trp516Arg)
17	g.80110835T>C	CA401367153	GAA	c.1546T>C (p.Trp516Arg)	ClinVar
17	g.80110835T>G	CA401367154	GAA	c.1546T>G (p.Trp516Gly)
17	g.80110836G>A	CA401367155	GAA	c.1547G>A (p.Trp516Ter)	ClinVar dbSNP
17	g.80110836G>C	CA401367156	GAA	c.1547G>C (p.Trp516Ser)
17	g.80110836G=	CA2277814115	GAA	c.1547G= (p.Trp516=)
17	g.80110836G>T	CA401367157	GAA	c.1547G>T (p.Trp516Leu)
17	g.80110837G>A	CA274281	GAA	c.1548G>A (p.Trp516Ter)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80110837G>C	CA401367158	GAA	c.1548G>C (p.Trp516Cys)
17	g.80110837G=	CA2277814116	GAA	c.1548G= (p.Trp516=)
17	g.80110837G>T	CA401367159	GAA	c.1548G>T (p.Trp516Cys)

Number of alleles fetched