Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
6	g.49447712A>C	CA364397164	MMUT	c.1518T>G (p.Asp506Glu)
6	g.49447712A>G	CA450398193	MMUT	c.1518T>C (p.Asp506=)
6	g.49447712A>T	CA364397165	MMUT	c.1518T>A (p.Asp506Glu)
6	g.49447713T>A	CA364397166	MMUT	c.1517A>T (p.Asp506Val)
6	g.49447713T>C	CA364397167	MMUT	c.1517A>G (p.Asp506Gly)
6	g.49447713T>G	CA364397168	MMUT	c.1517A>C (p.Asp506Ala)
6	g.49447714C>A	CA364397169	MMUT	c.1516G>T (p.Asp506Tyr)
6	g.49447714C>G	CA364397171	MMUT	c.1516G>C (p.Asp506His)
6	g.49447714C>T	CA364397170	MMUT	c.1516G>A (p.Asp506Asn)
6	g.49447715A=	CA1627387622	MMUT	c.1515T= (p.Ile505=)
6	g.49447715A>C	CA364397172	MMUT	c.1515T>G (p.Ile505Met)
6	g.49447715A>G	CA3846857	MMUT	c.1515T>C (p.Ile505=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6	g.49447715A>T	CA450398194	MMUT	c.1515T>A (p.Ile505=)
6	g.49447716A>C	CA364397173	MMUT	c.1514T>G (p.Ile505Ser)
6	g.49447716A>G	CA364397174	MMUT	c.1514T>C (p.Ile505Thr)	ClinVar
6	g.49447716A>T	CA364397175	MMUT	c.1514T>A (p.Ile505Asn)
6	g.49447717T>A	CA364397176	MMUT	c.1513A>T (p.Ile505Phe)
6	g.49447717T>C	CA364397177	MMUT	c.1513A>G (p.Ile505Val)
6	g.49447717T>G	CA364397178	MMUT	c.1513A>C (p.Ile505Leu)
6	g.49447718del	CA2573140879	MMUT	c.1513del (p.Ile505LeufsTer?)	ClinVar dbSNP
6	g.49447718T>A	CA450398195	MMUT	c.1512A>T (p.Ala504=)
6	g.49447718T>C	CA3846858	MMUT	c.1512A>G (p.Ala504=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.49447718T>G	CA450398196	MMUT	c.1512A>C (p.Ala504=)
6	g.49447718T=	CA1627387623	MMUT	c.1512A= (p.Ala504=)
6	g.49447719G>A	CA138795782	MMUT	c.1511C>T (p.Ala504Val)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.49447719G>C	CA3846859	MMUT	c.1511C>G (p.Ala504Gly)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.49447719G=	CA1627387624	MMUT	c.1511C= (p.Ala504=)
6	g.49447719G>T	CA364397179	MMUT	c.1511C>A (p.Ala504Glu)
6	g.49447720C>A	CA364397180	MMUT	c.1510G>T (p.Ala504Ser)
6	g.49447720C=	CA1627387625	MMUT	c.1510G= (p.Ala504=)
6	g.49447720C>G	CA364397181	MMUT	c.1510G>C (p.Ala504Pro)
6	g.49447720C>T	CA138795783	MMUT	c.1510G>A (p.Ala504Thr)	dbSNP
6	g.49447721C>A	CA450398197	MMUT	c.1509G>T (p.Leu503=)
6	g.49447721C=	CA1627387626	MMUT	c.1509G= (p.Leu503=)
6	g.49447721C>G	CA450398198	MMUT	c.1509G>C (p.Leu503=)
6	g.49447721C>T	CA450398199	MMUT	c.1509G>A (p.Leu503=)	dbSNP
6	g.49447722A>C	CA364397182	MMUT	c.1508T>G (p.Leu503Arg)
6	g.49447722A>G	CA364397183	MMUT	c.1508T>C (p.Leu503Pro)
6	g.49447722A>T	CA364397184	MMUT	c.1508T>A (p.Leu503Gln)
6	g.49447723G>A	CA450398200	MMUT	c.1507C>T (p.Leu503=)
6	g.49447723G>C	CA364397185	MMUT	c.1507C>G (p.Leu503Val)
6	g.49447723G>T	CA364397186	MMUT	c.1507C>A (p.Leu503Met)
6	g.49447724A>C	CA450398201	MMUT	c.1506T>G (p.Val502=)
6	g.49447724A>G	CA450398202	MMUT	c.1506T>C (p.Val502=)
6	g.49447724A>T	CA450398203	MMUT	c.1506T>A (p.Val502=)
6	g.49447725A>C	CA364397187	MMUT	c.1505T>G (p.Val502Gly)
6	g.49447725A>G	CA364397188	MMUT	c.1505T>C (p.Val502Ala)
6	g.49447725A>T	CA364397189	MMUT	c.1505T>A (p.Val502Asp)
6	g.49447726C>A	CA364397190	MMUT	c.1504G>T (p.Val502Phe)
6	g.49447726C=	CA1627387627	MMUT	c.1504G= (p.Val502=)
6	g.49447726C>G	CA364397191	MMUT	c.1504G>C (p.Val502Leu)
6	g.49447726C>T	CA3846860	MMUT	c.1504G>A (p.Val502Ile)	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.49447727T>A	CA364397192	MMUT	c.1503A>T (p.Glu501Asp)
6	g.49447727T>C	CA450398204	MMUT	c.1503A>G (p.Glu501=)
6	g.49447727T>G	CA364397193	MMUT	c.1503A>C (p.Glu501Asp)	gnomAD v4
6	g.49447728T>A	CA364397194	MMUT	c.1502A>T (p.Glu501Val)
6	g.49447728T>C	CA364397195	MMUT	c.1502A>G (p.Glu501Gly)
6	g.49447728T>G	CA364397196	MMUT	c.1502A>C (p.Glu501Ala)
6	g.49447729C>A	CA364397197	MMUT	c.1501G>T (p.Glu501Ter)
6	g.49447729C=	CA1627387628	MMUT	c.1501G= (p.Glu501=)
6	g.49447729C>G	CA3846861	MMUT	c.1501G>C (p.Glu501Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.49447729C>T	CA364397198	MMUT	c.1501G>A (p.Glu501Lys)
6	g.49447729_49447748del	CA2695206519	MMUT	c.1482_1501del (p.Glu495SerfsTer5)
6	g.49447730T>A	CA450398205	MMUT	c.1500A>T (p.Val500=)	gnomAD v4
6	g.49447730T>C	CA450398206	MMUT	c.1500A>G (p.Val500=)
6	g.49447730T>G	CA450398207	MMUT	c.1500A>C (p.Val500=)
6	g.49447731A=	CA1627387629	MMUT	c.1499T= (p.Val500=)
6	g.49447731A>C	CA364397199	MMUT	c.1499T>G (p.Val500Gly)
6	g.49447731A>G	CA138795784	MMUT	c.1499T>C (p.Val500Ala)	ClinVar dbSNP gnomAD v4
6	g.49447731A>T	CA364397200	MMUT	c.1499T>A (p.Val500Glu)
6	g.49447732C>A	CA364397201	MMUT	c.1498G>T (p.Val500Leu)
6	g.49447732C>G	CA364397202	MMUT	c.1498G>C (p.Val500Leu)
6	g.49447732C>T	CA364397203	MMUT	c.1498G>A (p.Val500Ile)
6	g.49447733A=	CA1627387630	MMUT	c.1497T= (p.Ala499=)
6	g.49447733A>C	CA450398208	MMUT	c.1497T>G (p.Ala499=)
6	g.49447733A>G	CA450398210	MMUT	c.1497T>C (p.Ala499=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.49447733A>T	CA450398209	MMUT	c.1497T>A (p.Ala499=)
6	g.49447734G>A	CA364397205	MMUT	c.1496C>T (p.Ala499Val)	gnomAD v4
6	g.49447734G>C	CA364397206	MMUT	c.1496C>G (p.Ala499Gly)
6	g.49447734G>T	CA364397204	MMUT	c.1496C>A (p.Ala499Asp)
6	g.49447735C>A	CA364397207	MMUT	c.1495G>T (p.Ala499Ser)	dbSNP gnomAD v4
6	g.49447735C=	CA1627387631	MMUT	c.1495G= (p.Ala499=)
6	g.49447735C>G	CA364397208	MMUT	c.1495G>C (p.Ala499Pro)	dbSNP gnomAD v2 gnomAD v4
6	g.49447735C>T	CA249739	MMUT	c.1495G>A (p.Ala499Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.49447735_49447736insTT	CA1088809430	MMUT	c.1494_1495insAA (p.Ala499LysfsTer3)	gnomAD v3 gnomAD v4
6	g.49447736G>A	CA3846862	MMUT	c.1494C>T (p.Asp498=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.49447736G>C	CA364397210	MMUT	c.1494C>G (p.Asp498Glu)
6	g.49447736G=	CA1627387632	MMUT	c.1494C= (p.Asp498=)
6	g.49447736G>T	CA364397209	MMUT	c.1494C>A (p.Asp498Glu)
6	g.49447737T>A	CA364397211	MMUT	c.1493A>T (p.Asp498Val)
6	g.49447737T>C	CA3846863	MMUT	c.1493A>G (p.Asp498Gly)	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.49447737T>G	CA364397212	MMUT	c.1493A>C (p.Asp498Ala)
6	g.49447737T=	CA1627387633	MMUT	c.1493A= (p.Asp498=)
6	g.49447738C>A	CA364397213	MMUT	c.1492G>T (p.Asp498Tyr)
6	g.49447738C>G	CA364397215	MMUT	c.1492G>C (p.Asp498His)
6	g.49447738C>T	CA364397214	MMUT	c.1492G>A (p.Asp498Asn)
6	g.49447739T>A	CA364397216	MMUT	c.1491A>T (p.Glu497Asp)
6	g.49447739T>C	CA450398211	MMUT	c.1491A>G (p.Glu497=)	ClinVar dbSNP gnomAD v4
6	g.49447739T>G	CA364397217	MMUT	c.1491A>C (p.Glu497Asp)	gnomAD v4
6	g.49447739T=	CA1627387634	MMUT	c.1491A= (p.Glu497=)
6	g.49447740T>A	CA364397218	MMUT	c.1490A>T (p.Glu497Val)
6	g.49447740T>C	CA364397220	MMUT	c.1490A>G (p.Glu497Gly)
6	g.49447740T>G	CA364397219	MMUT	c.1490A>C (p.Glu497Ala)
6	g.49447741C>A	CA10575864	MMUT	c.1489G>T (p.Glu497Ter)	ClinVar dbSNP gnomAD v4
6	g.49447741C=	CA1627387635	MMUT	c.1489G= (p.Glu497=)
6	g.49447741C>G	CA364397221	MMUT	c.1489G>C (p.Glu497Gln)	dbSNP gnomAD v3 gnomAD v4
6	g.49447741C>T	CA364397222	MMUT	c.1489G>A (p.Glu497Lys)
6	g.49447742T>A	CA364397223	MMUT	c.1488A>T (p.Lys496Asn)
6	g.49447742T>C	CA450398212	MMUT	c.1488A>G (p.Lys496=)	gnomAD v4
6	g.49447742T>G	CA364397224	MMUT	c.1488A>C (p.Lys496Asn)
6	g.49447746dup	CA2770993524	MMUT	c.1488dup (p.Glu497ArgfsTer10)
6	g.49447746del	CA2679046412	MMUT	c.1488del (p.Glu497LysfsTer4)	gnomAD v4
6	g.49447743T>A	CA364397225	MMUT	c.1487A>T (p.Lys496Ile)
6	g.49447743T>C	CA364397226	MMUT	c.1487A>G (p.Lys496Arg)
6	g.49447743T>G	CA364397227	MMUT	c.1487A>C (p.Lys496Thr)
6	g.49447744T>A	CA364397228	MMUT	c.1486A>T (p.Lys496Ter)
6	g.49447744T>C	CA364397229	MMUT	c.1486A>G (p.Lys496Glu)	dbSNP
6	g.49447744T>G	CA364397230	MMUT	c.1486A>C (p.Lys496Gln)
6	g.49447744T=	CA1627387636	MMUT	c.1486A= (p.Lys496=)
6	g.49447745T>A	CA364397231	MMUT	c.1485A>T (p.Glu495Asp)
6	g.49447745T>C	CA450398213	MMUT	c.1485A>G (p.Glu495=)	ClinVar
6	g.49447745T>G	CA364397232	MMUT	c.1485A>C (p.Glu495Asp)
6	g.49447746T>A	CA364397233	MMUT	c.1484A>T (p.Glu495Val)
6	g.49447746T>C	CA364397235	MMUT	c.1484A>G (p.Glu495Gly)
6	g.49447746T>G	CA364397234	MMUT	c.1484A>C (p.Glu495Ala)
6	g.49447752_49447771del	CA2679046413	MMUT	c.1465_1484del (p.Val489LysfsTer11)	ClinVar gnomAD v4
6	g.49447747C>A	CA364397236	MMUT	c.1483G>T (p.Glu495Ter)
6	g.49447747C>G	CA364397237	MMUT	c.1483G>C (p.Glu495Gln)
6	g.49447747C>T	CA364397238	MMUT	c.1483G>A (p.Glu495Lys)
6	g.49447748C>A	CA364397239	MMUT	c.1482G>T (p.Leu494Phe)
6	g.49447748C>G	CA364397240	MMUT	c.1482G>C (p.Leu494Phe)
6	g.49447748C>T	CA450398215	MMUT	c.1482G>A (p.Leu494=)
6	g.49447749A=	CA1627387637	MMUT	c.1481T= (p.Leu494=)
6	g.49447749A>C	CA364397241	MMUT	c.1481T>G (p.Leu494Trp)
6	g.49447749A>G	CA364397242	MMUT	c.1481T>C (p.Leu494Ser)
6	g.49447749A>T	CA3846864	MMUT	c.1481T>A (p.Leu494Ter)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6	g.49447750A=	CA1627387638	MMUT	c.1480T= (p.Leu494=)
6	g.49447750A>C	CA364397243	MMUT	c.1480T>G (p.Leu494Val)	dbSNP gnomAD v3 gnomAD v4
6	g.49447750A>G	CA3846866	MMUT	c.1480T>C (p.Leu494=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6	g.49447750A>T	CA3846865	MMUT	c.1480T>A (p.Leu494Met)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6	g.49447751C>A	CA364397245	MMUT	c.1479G>T (p.Gln493His)	ClinVar gnomAD v4
6	g.49447751C>G	CA364397244	MMUT	c.1479G>C (p.Gln493His)
6	g.49447751C>T	CA450398217	MMUT	c.1479G>A (p.Gln493=)	gnomAD v4
6	g.49447752T>A	CA364397246	MMUT	c.1478A>T (p.Gln493Leu)	ClinVar
6	g.49447752T>C	CA364397247	MMUT	c.1478A>G (p.Gln493Arg)
6	g.49447752T>G	CA364397248	MMUT	c.1478A>C (p.Gln493Pro)
6	g.49447753G>A	CA364397249	MMUT	c.1477C>T (p.Gln493Ter)
6	g.49447753G>C	CA364397250	MMUT	c.1477C>G (p.Gln493Glu)
6	g.49447753G>T	CA364397251	MMUT	c.1477C>A (p.Gln493Lys)
6	g.49447754G>A	CA3846867	MMUT	c.1476C>T (p.Tyr492=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6	g.49447754G>C	CA364397253	MMUT	c.1476C>G (p.Tyr492Ter)
6	g.49447754G=	CA1627387639	MMUT	c.1476C= (p.Tyr492=)
6	g.49447754G>T	CA364397252	MMUT	c.1476C>A (p.Tyr492Ter)
6	g.49447755T>A	CA364397254	MMUT	c.1475A>T (p.Tyr492Phe)
6	g.49447755T>C	CA364397255	MMUT	c.1475A>G (p.Tyr492Cys)	gnomAD v4
6	g.49447755T>G	CA364397256	MMUT	c.1475A>C (p.Tyr492Ser)
6	g.49447756A>C	CA364397257	MMUT	c.1474T>G (p.Tyr492Asp)
6	g.49447756A>G	CA364397258	MMUT	c.1474T>C (p.Tyr492His)	gnomAD v4
6	g.49447756A>T	CA364397259	MMUT	c.1474T>A (p.Tyr492Asn)
6	g.49447757C>A	CA364397260	MMUT	c.1473G>T (p.Lys491Asn)
6	g.49447757C=	CA1627387640	MMUT	c.1473G= (p.Lys491=)
6	g.49447757C>G	CA364397261	MMUT	c.1473G>C (p.Lys491Asn)
6	g.49447757C>T	CA3846868	MMUT	c.1473G>A (p.Lys491=)	dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
6	g.49447758T>A	CA364397262	MMUT	c.1472A>T (p.Lys491Met)
6	g.49447758T>C	CA364397263	MMUT	c.1472A>G (p.Lys491Arg)
6	g.49447758T>G	CA3846869	MMUT	c.1472A>C (p.Lys491Thr)	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.49447758T=	CA1627387641	MMUT	c.1472A= (p.Lys491=)
6	g.49447759T>A	CA364397264	MMUT	c.1471A>T (p.Lys491Ter)
6	g.49447759T>C	CA364397265	MMUT	c.1471A>G (p.Lys491Glu)	gnomAD v4
6	g.49447759T>G	CA364397266	MMUT	c.1471A>C (p.Lys491Gln)
6	g.49447760A>C	CA364397267	MMUT	c.1470T>G (p.Asn490Lys)
6	g.49447760A>G	CA450398219	MMUT	c.1470T>C (p.Asn490=)
6	g.49447760A>T	CA364397268	MMUT	c.1470T>A (p.Asn490Lys)
6	g.49447761T>A	CA364397269	MMUT	c.1469A>T (p.Asn490Ile)
6	g.49447761T>C	CA3846870	MMUT	c.1469A>G (p.Asn490Ser)	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.49447761T>G	CA364397270	MMUT	c.1469A>C (p.Asn490Thr)
6	g.49447761T=	CA1627387642	MMUT	c.1469A= (p.Asn490=)
6	g.49447763del	CA2580074721	MMUT	c.1469del (p.Asn490IlefsTer11)	ClinVar
6	g.49447762T>A	CA364397271	MMUT	c.1468A>T (p.Asn490Tyr)
6	g.49447762T>C	CA364397273	MMUT	c.1468A>G (p.Asn490Asp)
6	g.49447762T>G	CA364397272	MMUT	c.1468A>C (p.Asn490His)
6	g.49447763T>A	CA450398220	MMUT	c.1467A>T (p.Val489=)
6	g.49447763T>C	CA450398221	MMUT	c.1467A>G (p.Val489=)	ClinVar
6	g.49447763T>G	CA450398222	MMUT	c.1467A>C (p.Val489=)
6	g.49447764A=	CA1627387643	MMUT	c.1466T= (p.Val489=)
6	g.49447764A>C	CA364397274	MMUT	c.1466T>G (p.Val489Gly)
6	g.49447764A>G	CA364397275	MMUT	c.1466T>C (p.Val489Ala)
6	g.49447764A>T	CA3846871	MMUT	c.1466T>A (p.Val489Glu)	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.49447765C>A	CA364397276	MMUT	c.1465G>T (p.Val489Leu)
6	g.49447765C=	CA1627387644	MMUT	c.1465G= (p.Val489=)
6	g.49447765C>G	CA364397277	MMUT	c.1465G>C (p.Val489Leu)
6	g.49447765C>T	CA364397278	MMUT	c.1465G>A (p.Val489Ile)	ClinVar dbSNP gnomAD v4
6	g.49447766T>A	CA450398226	MMUT	c.1464A>T (p.Gly488=)
6	g.49447766T>C	CA450398227	MMUT	c.1464A>G (p.Gly488=)
6	g.49447766T>G	CA450398228	MMUT	c.1464A>C (p.Gly488=)
6	g.49447767C>A	CA138795785	MMUT	c.1463G>T (p.Gly488Val)	dbSNP
6	g.49447767C=	CA1627387645	MMUT	c.1463G= (p.Gly488=)
6	g.49447767C>G	CA364397280	MMUT	c.1463G>C (p.Gly488Ala)
6	g.49447767C>T	CA364397279	MMUT	c.1463G>A (p.Gly488Glu)	gnomAD v4
6	g.49447768dup	CA2499218328	MMUT	c.1463dup (p.Val489SerfsTer3)	ClinVar dbSNP gnomAD v4
6	g.49447768del	CA450398229	MMUT	c.1463del (p.Gly488GlufsTer2)	COSMIC
6	g.49447768C>A	CA364397281	MMUT	c.1462G>T (p.Gly488Ter)
6	g.49447768C>G	CA364397282	MMUT	c.1462G>C (p.Gly488Arg)
6	g.49447768C>T	CA364397283	MMUT	c.1462G>A (p.Gly488Arg)
6	g.49447769A>C	CA450398230	MMUT	c.1461T>G (p.Val487=)
6	g.49447769A>G	CA450398231	MMUT	c.1461T>C (p.Val487=)
6	g.49447769A>T	CA450398232	MMUT	c.1461T>A (p.Val487=)
6	g.49447770A=	CA1627387646	MMUT	c.1460T= (p.Val487=)
6	g.49447770A>C	CA364397284	MMUT	c.1460T>G (p.Val487Gly)
6	g.49447770A>G	CA3846872	MMUT	c.1460T>C (p.Val487Ala)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.49447770A>T	CA364397285	MMUT	c.1460T>A (p.Val487Asp)
6	g.49447771C>A	CA364397286	MMUT	c.1459G>T (p.Val487Phe)	ClinVar dbSNP COSMIC
6	g.49447771C=	CA1627387647	MMUT	c.1459G= (p.Val487=)
6	g.49447771C>G	CA364397288	MMUT	c.1459G>C (p.Val487Leu)
6	g.49447771C>T	CA364397287	MMUT	c.1459G>A (p.Val487Ile)	gnomAD v4
6	g.49447772A>C	CA364397289	MMUT	c.1458T>G (p.Ile486Met)
6	g.49447772A>G	CA450398235	MMUT	c.1458T>C (p.Ile486=)
6	g.49447772A>T	CA450398236	MMUT	c.1458T>A (p.Ile486=)
6	g.49447773A=	CA1627387648	MMUT	c.1457T= (p.Ile486=)
6	g.49447773A>C	CA364397290	MMUT	c.1457T>G (p.Ile486Ser)	gnomAD v4
6	g.49447773A>G	CA364397291	MMUT	c.1457T>C (p.Ile486Thr)	dbSNP
6	g.49447773A>T	CA364397292	MMUT	c.1457T>A (p.Ile486Asn)
6	g.49447774T>A	CA364397293	MMUT	c.1456A>T (p.Ile486Phe)
6	g.49447774T>C	CA364397294	MMUT	c.1456A>G (p.Ile486Val)
6	g.49447774T>G	CA364397295	MMUT	c.1456A>C (p.Ile486Leu)
6	g.49447775T>A	CA450398239	MMUT	c.1455A>T (p.Val485=)
6	g.49447775T>C	CA138795786	MMUT	c.1455A>G (p.Val485=)
6	g.49447775T>G	CA450398238	MMUT	c.1455A>C (p.Val485=)	dbSNP gnomAD v4
6	g.49447775T=	CA1627387649	MMUT	c.1455A= (p.Val485=)
6	g.49447776A>C	CA364397296	MMUT	c.1454T>G (p.Val485Gly)
6	g.49447776A>G	CA364397297	MMUT	c.1454T>C (p.Val485Ala)
6	g.49447776A>T	CA364397298	MMUT	c.1454T>A (p.Val485Glu)
6	g.49447777C>A	CA364397299	MMUT	c.1453G>T (p.Val485Leu)
6	g.49447777C>G	CA364397301	MMUT	c.1453G>C (p.Val485Leu)	gnomAD v4
6	g.49447777C>T	CA364397300	MMUT	c.1453G>A (p.Val485Ile)
6	g.49447778T>A	CA364397302	MMUT	c.1452A>T (p.Glu484Asp)
6	g.49447778T>C	CA450398240	MMUT	c.1452A>G (p.Glu484=)
6	g.49447778T>G	CA364397303	MMUT	c.1452A>C (p.Glu484Asp)
6	g.49447779T>A	CA364397304	MMUT	c.1451A>T (p.Glu484Val)
6	g.49447779T>C	CA364397305	MMUT	c.1451A>G (p.Glu484Gly)
6	g.49447779T>G	CA364397306	MMUT	c.1451A>C (p.Glu484Ala)
6	g.49447780C>A	CA364397307	MMUT	c.1450G>T (p.Glu484Ter)
6	g.49447780C>G	CA364397308	MMUT	c.1450G>C (p.Glu484Gln)
6	g.49447780C>T	CA364397309	MMUT	c.1450G>A (p.Glu484Lys)
6	g.49447781A>C	CA450398241	MMUT	c.1449T>G (p.Ser483=)
6	g.49447781A>G	CA450398243	MMUT	c.1449T>C (p.Ser483=)
6	g.49447781A>T	CA450398242	MMUT	c.1449T>A (p.Ser483=)
6	g.49447782G>A	CA364397310	MMUT	c.1448C>T (p.Ser483Phe)	dbSNP gnomAD v4
6	g.49447782G>C	CA364397311	MMUT	c.1448C>G (p.Ser483Cys)
6	g.49447782G=	CA1627387650	MMUT	c.1448C= (p.Ser483=)
6	g.49447782G>T	CA364397312	MMUT	c.1448C>A (p.Ser483Tyr)
6	g.49447783A=	CA1627387651	MMUT	c.1447T= (p.Ser483=)
6	g.49447783A>C	CA364397314	MMUT	c.1447T>G (p.Ser483Ala)
6	g.49447783A>G	CA3846873	MMUT	c.1447T>C (p.Ser483Pro)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.49447783A>T	CA364397313	MMUT	c.1447T>A (p.Ser483Thr)
6	g.49447784A>C	CA450398247	MMUT	c.1446T>G (p.Gly482=)
6	g.49447784A>G	CA450398248	MMUT	c.1446T>C (p.Gly482=)	gnomAD v4
6	g.49447784A>T	CA450398249	MMUT	c.1446T>A (p.Gly482=)
6	g.49447785C>A	CA364397315	MMUT	c.1445G>T (p.Gly482Val)
6	g.49447785C>G	CA364397316	MMUT	c.1445G>C (p.Gly482Ala)
6	g.49447785C>T	CA364397317	MMUT	c.1445G>A (p.Gly482Asp)	gnomAD v4
6	g.49447786C>A	CA364397318	MMUT	c.1445-1G>T (n.1445-1G>T)	dbSNP gnomAD v2 gnomAD v4
6	g.49447786C=	CA1627387652	MMUT	c.1445-1G= (n.1445-1G=)
6	g.49447786C>G	CA364397319	MMUT	c.1445-1G>C (n.1445-1G>C)	ClinVar dbSNP
6	g.49447786C>T	CA364397320	MMUT	c.1445-1G>A (n.1445-1G>A)
6	g.49447786_49447787insAGAATCTATTCTAGCTTGTCTTCGGGCAGCACA	CA2711791080	MMUT	c.1445-2_1445-1insTGTGCTGCCCGAAGACAAGCTAGAATAGATTCT (n.1445-2_1445-1insTGTGCTGCCCGAAGACAAGCTAGAATAGATTCT)	dbSNP
6	g.49447787T>A	CA364397321	MMUT	c.1445-2A>T (n.1445-2A>T)
6	g.49447787T>C	CA220547	MMUT	c.1445-2A>G (n.1445-2A>G)	ClinVar dbSNP gnomAD v4
6	g.49447787T>G	CA364397322	MMUT	c.1445-2A>C (n.1445-2A>C)
6	g.49447787T=	CA1627387653	MMUT	c.1445-2A= (n.1445-2A=)
6	g.49447788G>A	CA1627387655	MMUT	c.1445-3C>T (n.1445-3C>T)	dbSNP gnomAD v4
6	g.49447788G>C	CA1627387656	MMUT	c.1445-3C>G (n.1445-3C>G)	dbSNP
6	g.49447788G=	CA1627387654	MMUT	c.1445-3C= (n.1445-3C=)
6	g.49447788G>T	CA1088809442	MMUT	c.1445-3C>A (n.1445-3C>A)	dbSNP gnomAD v3 gnomAD v4
6	g.49447789del	CA2578717828	MMUT	c.1445-3del (n.1445-3del)
6	g.49447789G>A	CA2578717829	MMUT	c.1445-4C>T (n.1445-4C>T)	gnomAD v4
6	g.49447789G>T	CA2541786876	MMUT	c.1445-4C>A (n.1445-4C>A)	gnomAD v4
6	g.49447790T>C	CA566929969	MMUT	c.1445-5A>G (n.1445-5A>G)	ClinVar dbSNP gnomAD v2 gnomAD v4
6	g.49447790T=	CA1627387657	MMUT	c.1445-5A= (n.1445-5A=)
6	g.49447792del	CA2578717830	MMUT	c.1445-6del (n.1445-6del)
6	g.49447793T>C	CA566929970	MMUT	c.1445-8A>G (n.1445-8A>G)	dbSNP gnomAD v2 gnomAD v4
6	g.49447793T=	CA1627387658	MMUT	c.1445-8A= (n.1445-8A=)
6	g.49447794T>C	CA2770993528	MMUT	c.1445-9A>G (n.1445-9A>G)
6	g.49447795T>C	CA2578717831	MMUT	c.1445-10A>G (n.1445-10A>G)
6	g.49447796C=	CA1627387659	MMUT	c.1445-11G= (n.1445-11G=)
6	g.49447796C>T	CA825473765	MMUT	c.1445-11G>A (n.1445-11G>A)	dbSNP gnomAD v3 gnomAD v4
6	g.49447798C>A	CA2679046414	MMUT	c.1445-13G>T (n.1445-13G>T)	ClinVar gnomAD v4
6	g.49447799A>G	CA2711791081	MMUT	c.1445-14T>C (n.1445-14T>C)	ClinVar dbSNP
6	g.49447799A>T	CA2679046415	MMUT	c.1445-14T>A (n.1445-14T>A)	gnomAD v4
6	g.49447800A>G	CA2740091344	MMUT	c.1445-15T>C (n.1445-15T>C)	ClinVar
6	g.49447800_49447801insC	CA2770993530	MMUT	c.1445-16_1445-15insG (n.1445-16_1445-15insG)
6	g.49447802G>A	CA1627387661	MMUT	c.1445-17C>T (n.1445-17C>T)	dbSNP
6	g.49447802G=	CA1627387660	MMUT	c.1445-17C= (n.1445-17C=)
6	g.49447802G>T	CA2679046416	MMUT	c.1445-17C>A (n.1445-17C>A)	gnomAD v4
6	g.49447803A>G	CA2547574198	MMUT	c.1445-18T>C (n.1445-18T>C)
6	g.49447805A=	CA1627387662	MMUT	c.1445-20T= (n.1445-20T=)
6	g.49447805A>G	CA566929971	MMUT	c.1445-20T>C (n.1445-20T>C)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.49447806_49447807insCCAAACACACCCAACAC	CA2770993531	MMUT	c.1445-22_1445-21insGTGTTGGGTGTGTTTGG (n.1445-22_1445-21insGTGTTGGGTGTGTTTGG)
6	g.49447808T>A	CA2679046417	MMUT	c.1445-23A>T (n.1445-23A>T)	gnomAD v4
6	g.49447808T>C	CA2578717834	MMUT	c.1445-23A>G (n.1445-23A>G)
6	g.49447811del	CA2578717833	MMUT	c.1445-23del (n.1445-23del)
6	g.49447810T>A	CA138795787	MMUT	c.1445-25A>T (n.1445-25A>T)	dbSNP gnomAD v3 gnomAD v4
6	g.49447810T>G	CA2679046418	MMUT	c.1445-25A>C (n.1445-25A>C)	gnomAD v4
6	g.49447810T=	CA1627387663	MMUT	c.1445-25A= (n.1445-25A=)
6	g.49447812A>T	CA2679046419	MMUT	c.1445-27T>A (n.1445-27T>A)	gnomAD v4

Number of alleles fetched