Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.71215620T>ACA371466329EYA1c.1469A>T (p.His490Leu)
c.1367A>T (p.His456Leu)
c.1364A>T (p.His455Leu)
c.*748A>T (n.*748A>T)
c.859A>T
n.1932A>T
c.*1146A>T (n.*1146A>T)
c.1556A>T (p.His519Leu)
c.1451A>T (p.His484Leu)
n.539A>T
c.1448A>T (p.His483Leu)
c.1370A>T (p.His457Leu)
c.1466A>T (p.His489Leu)
c.*414A>T (n.*414A>T)
n.1964A>T
c.1103A>T (p.His368Leu)
c.1541A>T (p.His514Leu)
c.1454A>T (p.His485Leu)
c.1406A>T (p.His469Leu)
c.1118A>T (p.His373Leu)
c.1553A>T (p.His518Leu)
c.1538A>T (p.His513Leu)
8g.71215620T>CCA371466330EYA1c.1469A>G (p.His490Arg)
c.1367A>G (p.His456Arg)
c.1364A>G (p.His455Arg)
c.*748A>G (n.*748A>G)
c.859A>G
n.1932A>G
c.*1146A>G (n.*1146A>G)
c.1556A>G (p.His519Arg)
c.1451A>G (p.His484Arg)
n.539A>G
c.1448A>G (p.His483Arg)
c.1370A>G (p.His457Arg)
c.1466A>G (p.His489Arg)
c.*414A>G (n.*414A>G)
n.1964A>G
c.1103A>G (p.His368Arg)
c.1541A>G (p.His514Arg)
c.1454A>G (p.His485Arg)
c.1406A>G (p.His469Arg)
c.1118A>G (p.His373Arg)
c.1553A>G (p.His518Arg)
c.1538A>G (p.His513Arg)
8g.71215620T>GCA371466331EYA1c.1469A>C (p.His490Pro)
c.1367A>C (p.His456Pro)
c.1364A>C (p.His455Pro)
c.*748A>C (n.*748A>C)
c.859A>C
n.1932A>C
c.*1146A>C (n.*1146A>C)
c.1556A>C (p.His519Pro)
c.1451A>C (p.His484Pro)
n.539A>C
c.1448A>C (p.His483Pro)
c.1370A>C (p.His457Pro)
c.1466A>C (p.His489Pro)
c.*414A>C (n.*414A>C)
n.1964A>C
c.1103A>C (p.His368Pro)
c.1541A>C (p.His514Pro)
c.1454A>C (p.His485Pro)
c.1406A>C (p.His469Pro)
c.1118A>C (p.His373Pro)
c.1553A>C (p.His518Pro)
c.1538A>C (p.His513Pro)
8g.71215621G>ACA4779459EYA1c.1468C>T (p.His490Tyr)
c.1366C>T (p.His456Tyr)
c.1363C>T (p.His455Tyr)
c.*747C>T (n.*747C>T)
c.858C>T
n.1931C>T
c.*1145C>T (n.*1145C>T)
c.1555C>T (p.His519Tyr)
c.1450C>T (p.His484Tyr)
n.538C>T
c.1447C>T (p.His483Tyr)
c.1369C>T (p.His457Tyr)
c.1465C>T (p.His489Tyr)
c.*413C>T (n.*413C>T)
n.1963C>T
c.1102C>T (p.His368Tyr)
c.1540C>T (p.His514Tyr)
c.1453C>T (p.His485Tyr)
c.1405C>T (p.His469Tyr)
c.1117C>T (p.His373Tyr)
c.1552C>T (p.His518Tyr)
c.1537C>T (p.His513Tyr)
 dbSNP ExAC gnomAD v2
8g.71215621G>CCA371466332EYA1c.1468C>G (p.His490Asp)
c.1366C>G (p.His456Asp)
c.1363C>G (p.His455Asp)
c.*747C>G (n.*747C>G)
c.858C>G
n.1931C>G
c.*1145C>G (n.*1145C>G)
c.1555C>G (p.His519Asp)
c.1450C>G (p.His484Asp)
n.538C>G
c.1447C>G (p.His483Asp)
c.1369C>G (p.His457Asp)
c.1465C>G (p.His489Asp)
c.*413C>G (n.*413C>G)
n.1963C>G
c.1102C>G (p.His368Asp)
c.1540C>G (p.His514Asp)
c.1453C>G (p.His485Asp)
c.1405C>G (p.His469Asp)
c.1117C>G (p.His373Asp)
c.1552C>G (p.His518Asp)
c.1537C>G (p.His513Asp)
 ClinVar dbSNP gnomAD v4
8g.71215621G=CA1792691755EYA1c.1468C= (p.His490=)
c.1366C= (p.His456=)
c.1363C= (p.His455=)
c.*747C= (n.*747C=)
c.858C=
n.1931C=
c.*1145C= (n.*1145C=)
c.1555C= (p.His519=)
c.1450C= (p.His484=)
n.538C=
c.1447C= (p.His483=)
c.1369C= (p.His457=)
c.1465C= (p.His489=)
c.*413C= (n.*413C=)
n.1963C=
c.1102C= (p.His368=)
c.1540C= (p.His514=)
c.1453C= (p.His485=)
c.1405C= (p.His469=)
c.1117C= (p.His373=)
c.1552C= (p.His518=)
c.1537C= (p.His513=)
8g.71215621G>TCA371466333EYA1c.1468C>A (p.His490Asn)
c.1366C>A (p.His456Asn)
c.1363C>A (p.His455Asn)
c.*747C>A (n.*747C>A)
c.858C>A
n.1931C>A
c.*1145C>A (n.*1145C>A)
c.1555C>A (p.His519Asn)
c.1450C>A (p.His484Asn)
n.538C>A
c.1447C>A (p.His483Asn)
c.1369C>A (p.His457Asn)
c.1465C>A (p.His489Asn)
c.*413C>A (n.*413C>A)
n.1963C>A
c.1102C>A (p.His368Asn)
c.1540C>A (p.His514Asn)
c.1453C>A (p.His485Asn)
c.1405C>A (p.His469Asn)
c.1117C>A (p.His373Asn)
c.1552C>A (p.His518Asn)
c.1537C>A (p.His513Asn)
 dbSNP
8g.71215622A>CCA371466334EYA1c.1467T>G (p.Ile489Met)
c.1365T>G (p.Ile455Met)
c.1362T>G (p.Ile454Met)
c.*746T>G (n.*746T>G)
c.857T>G
n.1930T>G
c.*1144T>G (n.*1144T>G)
c.1554T>G (p.Ile518Met)
c.1449T>G (p.Ile483Met)
n.537T>G
c.1446T>G (p.Ile482Met)
c.1368T>G (p.Ile456Met)
c.1464T>G (p.Ile488Met)
c.*412T>G (n.*412T>G)
n.1962T>G
c.1101T>G (p.Ile367Met)
c.1539T>G (p.Ile513Met)
c.1452T>G (p.Ile484Met)
c.1404T>G (p.Ile468Met)
c.1116T>G (p.Ile372Met)
c.1551T>G (p.Ile517Met)
c.1536T>G (p.Ile512Met)
8g.71215622A>GCA461325065EYA1c.1467T>C (p.Ile489=)
c.1365T>C (p.Ile455=)
c.1362T>C (p.Ile454=)
c.*746T>C (n.*746T>C)
c.857T>C
n.1930T>C
c.*1144T>C (n.*1144T>C)
c.1554T>C (p.Ile518=)
c.1449T>C (p.Ile483=)
n.537T>C
c.1446T>C (p.Ile482=)
c.1368T>C (p.Ile456=)
c.1464T>C (p.Ile488=)
c.*412T>C (n.*412T>C)
n.1962T>C
c.1101T>C (p.Ile367=)
c.1539T>C (p.Ile513=)
c.1452T>C (p.Ile484=)
c.1404T>C (p.Ile468=)
c.1116T>C (p.Ile372=)
c.1551T>C (p.Ile517=)
c.1536T>C (p.Ile512=)
8g.71215622A>TCA461325063EYA1c.1467T>A (p.Ile489=)
c.1365T>A (p.Ile455=)
c.1362T>A (p.Ile454=)
c.*746T>A (n.*746T>A)
c.857T>A
n.1930T>A
c.*1144T>A (n.*1144T>A)
c.1554T>A (p.Ile518=)
c.1449T>A (p.Ile483=)
n.537T>A
c.1446T>A (p.Ile482=)
c.1368T>A (p.Ile456=)
c.1464T>A (p.Ile488=)
c.*412T>A (n.*412T>A)
n.1962T>A
c.1101T>A (p.Ile367=)
c.1539T>A (p.Ile513=)
c.1452T>A (p.Ile484=)
c.1404T>A (p.Ile468=)
c.1116T>A (p.Ile372=)
c.1551T>A (p.Ile517=)
c.1536T>A (p.Ile512=)
8g.71215623A>CCA371466337EYA1c.1466T>G (p.Ile489Ser)
c.1364T>G (p.Ile455Ser)
c.1361T>G (p.Ile454Ser)
c.*745T>G (n.*745T>G)
c.856T>G
n.1929T>G
c.*1143T>G (n.*1143T>G)
c.1553T>G (p.Ile518Ser)
c.1448T>G (p.Ile483Ser)
n.536T>G
c.1445T>G (p.Ile482Ser)
c.1367T>G (p.Ile456Ser)
c.1463T>G (p.Ile488Ser)
c.*411T>G (n.*411T>G)
n.1961T>G
c.1100T>G (p.Ile367Ser)
c.1538T>G (p.Ile513Ser)
c.1451T>G (p.Ile484Ser)
c.1403T>G (p.Ile468Ser)
c.1115T>G (p.Ile372Ser)
c.1550T>G (p.Ile517Ser)
c.1535T>G (p.Ile512Ser)
8g.71215623A>GCA371466335EYA1c.1466T>C (p.Ile489Thr)
c.1364T>C (p.Ile455Thr)
c.1361T>C (p.Ile454Thr)
c.*745T>C (n.*745T>C)
c.856T>C
n.1929T>C
c.*1143T>C (n.*1143T>C)
c.1553T>C (p.Ile518Thr)
c.1448T>C (p.Ile483Thr)
n.536T>C
c.1445T>C (p.Ile482Thr)
c.1367T>C (p.Ile456Thr)
c.1463T>C (p.Ile488Thr)
c.*411T>C (n.*411T>C)
n.1961T>C
c.1100T>C (p.Ile367Thr)
c.1538T>C (p.Ile513Thr)
c.1451T>C (p.Ile484Thr)
c.1403T>C (p.Ile468Thr)
c.1115T>C (p.Ile372Thr)
c.1550T>C (p.Ile517Thr)
c.1535T>C (p.Ile512Thr)
8g.71215623A>TCA371466336EYA1c.1466T>A (p.Ile489Asn)
c.1364T>A (p.Ile455Asn)
c.1361T>A (p.Ile454Asn)
c.*745T>A (n.*745T>A)
c.856T>A
n.1929T>A
c.*1143T>A (n.*1143T>A)
c.1553T>A (p.Ile518Asn)
c.1448T>A (p.Ile483Asn)
n.536T>A
c.1445T>A (p.Ile482Asn)
c.1367T>A (p.Ile456Asn)
c.1463T>A (p.Ile488Asn)
c.*411T>A (n.*411T>A)
n.1961T>A
c.1100T>A (p.Ile367Asn)
c.1538T>A (p.Ile513Asn)
c.1451T>A (p.Ile484Asn)
c.1403T>A (p.Ile468Asn)
c.1115T>A (p.Ile372Asn)
c.1550T>A (p.Ile517Asn)
c.1535T>A (p.Ile512Asn)
8g.71215624T>ACA371466338EYA1c.1465A>T (p.Ile489Phe)
c.1363A>T (p.Ile455Phe)
c.1360A>T (p.Ile454Phe)
c.*744A>T (n.*744A>T)
c.855A>T
n.1928A>T
c.*1142A>T (n.*1142A>T)
c.1552A>T (p.Ile518Phe)
c.1447A>T (p.Ile483Phe)
n.535A>T
c.1444A>T (p.Ile482Phe)
c.1366A>T (p.Ile456Phe)
c.1462A>T (p.Ile488Phe)
c.*410A>T (n.*410A>T)
n.1960A>T
c.1099A>T (p.Ile367Phe)
c.1537A>T (p.Ile513Phe)
c.1450A>T (p.Ile484Phe)
c.1402A>T (p.Ile468Phe)
c.1114A>T (p.Ile372Phe)
c.1549A>T (p.Ile517Phe)
c.1534A>T (p.Ile512Phe)
8g.71215624T>CCA371466339EYA1c.1465A>G (p.Ile489Val)
c.1363A>G (p.Ile455Val)
c.1360A>G (p.Ile454Val)
c.*744A>G (n.*744A>G)
c.855A>G
n.1928A>G
c.*1142A>G (n.*1142A>G)
c.1552A>G (p.Ile518Val)
c.1447A>G (p.Ile483Val)
n.535A>G
c.1444A>G (p.Ile482Val)
c.1366A>G (p.Ile456Val)
c.1462A>G (p.Ile488Val)
c.*410A>G (n.*410A>G)
n.1960A>G
c.1099A>G (p.Ile367Val)
c.1537A>G (p.Ile513Val)
c.1450A>G (p.Ile484Val)
c.1402A>G (p.Ile468Val)
c.1114A>G (p.Ile372Val)
c.1549A>G (p.Ile517Val)
c.1534A>G (p.Ile512Val)
8g.71215624T>GCA371466340EYA1c.1465A>C (p.Ile489Leu)
c.1363A>C (p.Ile455Leu)
c.1360A>C (p.Ile454Leu)
c.*744A>C (n.*744A>C)
c.855A>C
n.1928A>C
c.*1142A>C (n.*1142A>C)
c.1552A>C (p.Ile518Leu)
c.1447A>C (p.Ile483Leu)
n.535A>C
c.1444A>C (p.Ile482Leu)
c.1366A>C (p.Ile456Leu)
c.1462A>C (p.Ile488Leu)
c.*410A>C (n.*410A>C)
n.1960A>C
c.1099A>C (p.Ile367Leu)
c.1537A>C (p.Ile513Leu)
c.1450A>C (p.Ile484Leu)
c.1402A>C (p.Ile468Leu)
c.1114A>C (p.Ile372Leu)
c.1549A>C (p.Ile517Leu)
c.1534A>C (p.Ile512Leu)
8g.71215625G>ACA4779460EYA1c.1464C>T (p.Leu488=)
c.1362C>T (p.Leu454=)
c.1359C>T (p.Leu453=)
c.*743C>T (n.*743C>T)
c.854C>T
n.1927C>T
c.*1141C>T (n.*1141C>T)
c.1551C>T (p.Leu517=)
c.1446C>T (p.Leu482=)
n.534C>T
c.1443C>T (p.Leu481=)
c.1365C>T (p.Leu455=)
c.1461C>T (p.Leu487=)
c.*409C>T (n.*409C>T)
n.1959C>T
c.1098C>T (p.Leu366=)
c.1536C>T (p.Leu512=)
c.1449C>T (p.Leu483=)
c.1401C>T (p.Leu467=)
c.1113C>T (p.Leu371=)
c.1548C>T (p.Leu516=)
c.1533C>T (p.Leu511=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.71215625G>CCA461325070EYA1c.1464C>G (p.Leu488=)
c.1362C>G (p.Leu454=)
c.1359C>G (p.Leu453=)
c.*743C>G (n.*743C>G)
c.854C>G
n.1927C>G
c.*1141C>G (n.*1141C>G)
c.1551C>G (p.Leu517=)
c.1446C>G (p.Leu482=)
n.534C>G
c.1443C>G (p.Leu481=)
c.1365C>G (p.Leu455=)
c.1461C>G (p.Leu487=)
c.*409C>G (n.*409C>G)
n.1959C>G
c.1098C>G (p.Leu366=)
c.1536C>G (p.Leu512=)
c.1449C>G (p.Leu483=)
c.1401C>G (p.Leu467=)
c.1113C>G (p.Leu371=)
c.1548C>G (p.Leu516=)
c.1533C>G (p.Leu511=)
8g.71215625G=CA1792691761EYA1c.1464C= (p.Leu488=)
c.1362C= (p.Leu454=)
c.1359C= (p.Leu453=)
c.*743C= (n.*743C=)
c.854C=
n.1927C=
c.*1141C= (n.*1141C=)
c.1551C= (p.Leu517=)
c.1446C= (p.Leu482=)
n.534C=
c.1443C= (p.Leu481=)
c.1365C= (p.Leu455=)
c.1461C= (p.Leu487=)
c.*409C= (n.*409C=)
n.1959C=
c.1098C= (p.Leu366=)
c.1536C= (p.Leu512=)
c.1449C= (p.Leu483=)
c.1401C= (p.Leu467=)
c.1113C= (p.Leu371=)
c.1548C= (p.Leu516=)
c.1533C= (p.Leu511=)
8g.71215625G>TCA461325069EYA1c.1464C>A (p.Leu488=)
c.1362C>A (p.Leu454=)
c.1359C>A (p.Leu453=)
c.*743C>A (n.*743C>A)
c.854C>A
n.1927C>A
c.*1141C>A (n.*1141C>A)
c.1551C>A (p.Leu517=)
c.1446C>A (p.Leu482=)
n.534C>A
c.1443C>A (p.Leu481=)
c.1365C>A (p.Leu455=)
c.1461C>A (p.Leu487=)
c.*409C>A (n.*409C>A)
n.1959C>A
c.1098C>A (p.Leu366=)
c.1536C>A (p.Leu512=)
c.1449C>A (p.Leu483=)
c.1401C>A (p.Leu467=)
c.1113C>A (p.Leu371=)
c.1548C>A (p.Leu516=)
c.1533C>A (p.Leu511=)
8g.71215626A>CCA371466341EYA1c.1463T>G (p.Leu488Arg)
c.1361T>G (p.Leu454Arg)
c.1358T>G (p.Leu453Arg)
c.*742T>G (n.*742T>G)
c.853T>G
n.1926T>G
c.*1140T>G (n.*1140T>G)
c.1550T>G (p.Leu517Arg)
c.1445T>G (p.Leu482Arg)
n.533T>G
c.1442T>G (p.Leu481Arg)
c.1364T>G (p.Leu455Arg)
c.1460T>G (p.Leu487Arg)
c.*408T>G (n.*408T>G)
n.1958T>G
c.1097T>G (p.Leu366Arg)
c.1535T>G (p.Leu512Arg)
c.1448T>G (p.Leu483Arg)
c.1400T>G (p.Leu467Arg)
c.1112T>G (p.Leu371Arg)
c.1547T>G (p.Leu516Arg)
c.1532T>G (p.Leu511Arg)
8g.71215626A>GCA371466342EYA1c.1463T>C (p.Leu488Pro)
c.1361T>C (p.Leu454Pro)
c.1358T>C (p.Leu453Pro)
c.*742T>C (n.*742T>C)
c.853T>C
n.1926T>C
c.*1140T>C (n.*1140T>C)
c.1550T>C (p.Leu517Pro)
c.1445T>C (p.Leu482Pro)
n.533T>C
c.1442T>C (p.Leu481Pro)
c.1364T>C (p.Leu455Pro)
c.1460T>C (p.Leu487Pro)
c.*408T>C (n.*408T>C)
n.1958T>C
c.1097T>C (p.Leu366Pro)
c.1535T>C (p.Leu512Pro)
c.1448T>C (p.Leu483Pro)
c.1400T>C (p.Leu467Pro)
c.1112T>C (p.Leu371Pro)
c.1547T>C (p.Leu516Pro)
c.1532T>C (p.Leu511Pro)
8g.71215626A>TCA371466343EYA1c.1463T>A (p.Leu488His)
c.1361T>A (p.Leu454His)
c.1358T>A (p.Leu453His)
c.*742T>A (n.*742T>A)
c.853T>A
n.1926T>A
c.*1140T>A (n.*1140T>A)
c.1550T>A (p.Leu517His)
c.1445T>A (p.Leu482His)
n.533T>A
c.1442T>A (p.Leu481His)
c.1364T>A (p.Leu455His)
c.1460T>A (p.Leu487His)
c.*408T>A (n.*408T>A)
n.1958T>A
c.1097T>A (p.Leu366His)
c.1535T>A (p.Leu512His)
c.1448T>A (p.Leu483His)
c.1400T>A (p.Leu467His)
c.1112T>A (p.Leu371His)
c.1547T>A (p.Leu516His)
c.1532T>A (p.Leu511His)
8g.71215627G>ACA371466344EYA1c.1462C>T (p.Leu488Phe)
c.1360C>T (p.Leu454Phe)
c.1357C>T (p.Leu453Phe)
c.*741C>T (n.*741C>T)
c.852C>T
n.1925C>T
c.*1139C>T (n.*1139C>T)
c.1549C>T (p.Leu517Phe)
c.1444C>T (p.Leu482Phe)
n.532C>T
c.1441C>T (p.Leu481Phe)
c.1363C>T (p.Leu455Phe)
c.1459C>T (p.Leu487Phe)
c.*407C>T (n.*407C>T)
n.1957C>T
c.1096C>T (p.Leu366Phe)
c.1534C>T (p.Leu512Phe)
c.1447C>T (p.Leu483Phe)
c.1399C>T (p.Leu467Phe)
c.1111C>T (p.Leu371Phe)
c.1546C>T (p.Leu516Phe)
c.1531C>T (p.Leu511Phe)
 dbSNP gnomAD v4
8g.71215627G>CCA371466345EYA1c.1462C>G (p.Leu488Val)
c.1360C>G (p.Leu454Val)
c.1357C>G (p.Leu453Val)
c.*741C>G (n.*741C>G)
c.852C>G
n.1925C>G
c.*1139C>G (n.*1139C>G)
c.1549C>G (p.Leu517Val)
c.1444C>G (p.Leu482Val)
n.532C>G
c.1441C>G (p.Leu481Val)
c.1363C>G (p.Leu455Val)
c.1459C>G (p.Leu487Val)
c.*407C>G (n.*407C>G)
n.1957C>G
c.1096C>G (p.Leu366Val)
c.1534C>G (p.Leu512Val)
c.1447C>G (p.Leu483Val)
c.1399C>G (p.Leu467Val)
c.1111C>G (p.Leu371Val)
c.1546C>G (p.Leu516Val)
c.1531C>G (p.Leu511Val)
8g.71215627G=CA1792691763EYA1c.1462C= (p.Leu488=)
c.1360C= (p.Leu454=)
c.1357C= (p.Leu453=)
c.*741C= (n.*741C=)
c.852C=
n.1925C=
c.*1139C= (n.*1139C=)
c.1549C= (p.Leu517=)
c.1444C= (p.Leu482=)
n.532C=
c.1441C= (p.Leu481=)
c.1363C= (p.Leu455=)
c.1459C= (p.Leu487=)
c.*407C= (n.*407C=)
n.1957C=
c.1096C= (p.Leu366=)
c.1534C= (p.Leu512=)
c.1447C= (p.Leu483=)
c.1399C= (p.Leu467=)
c.1111C= (p.Leu371=)
c.1546C= (p.Leu516=)
c.1531C= (p.Leu511=)
8g.71215627G>TCA371466346EYA1c.1462C>A (p.Leu488Ile)
c.1360C>A (p.Leu454Ile)
c.1357C>A (p.Leu453Ile)
c.*741C>A (n.*741C>A)
c.852C>A
n.1925C>A
c.*1139C>A (n.*1139C>A)
c.1549C>A (p.Leu517Ile)
c.1444C>A (p.Leu482Ile)
n.532C>A
c.1441C>A (p.Leu481Ile)
c.1363C>A (p.Leu455Ile)
c.1459C>A (p.Leu487Ile)
c.*407C>A (n.*407C>A)
n.1957C>A
c.1096C>A (p.Leu366Ile)
c.1534C>A (p.Leu512Ile)
c.1447C>A (p.Leu483Ile)
c.1399C>A (p.Leu467Ile)
c.1111C>A (p.Leu371Ile)
c.1546C>A (p.Leu516Ile)
c.1531C>A (p.Leu511Ile)
8g.71215628C>ACA461325073EYA1c.1461G>T (p.Ser487=)
c.1359G>T (p.Ser453=)
c.1356G>T (p.Ser452=)
c.*740G>T (n.*740G>T)
c.851G>T
n.1924G>T
c.*1138G>T (n.*1138G>T)
c.1548G>T (p.Ser516=)
c.1443G>T (p.Ser481=)
n.531G>T
c.1440G>T (p.Ser480=)
c.1362G>T (p.Ser454=)
c.1458G>T (p.Ser486=)
c.*406G>T (n.*406G>T)
n.1956G>T
c.1095G>T (p.Ser365=)
c.1533G>T (p.Ser511=)
c.1446G>T (p.Ser482=)
c.1398G>T (p.Ser466=)
c.1110G>T (p.Ser370=)
c.1545G>T (p.Ser515=)
c.1530G>T (p.Ser510=)
 gnomAD v4
8g.71215628C=CA1792691769EYA1c.1461G= (p.Ser487=)
c.1359G= (p.Ser453=)
c.1356G= (p.Ser452=)
c.*740G= (n.*740G=)
c.851G=
n.1924G=
c.*1138G= (n.*1138G=)
c.1548G= (p.Ser516=)
c.1443G= (p.Ser481=)
n.531G=
c.1440G= (p.Ser480=)
c.1362G= (p.Ser454=)
c.1458G= (p.Ser486=)
c.*406G= (n.*406G=)
n.1956G=
c.1095G= (p.Ser365=)
c.1533G= (p.Ser511=)
c.1446G= (p.Ser482=)
c.1398G= (p.Ser466=)
c.1110G= (p.Ser370=)
c.1545G= (p.Ser515=)
c.1530G= (p.Ser510=)
8g.71215628C>GCA461325074EYA1c.1461G>C (p.Ser487=)
c.1359G>C (p.Ser453=)
c.1356G>C (p.Ser452=)
c.*740G>C (n.*740G>C)
c.851G>C
n.1924G>C
c.*1138G>C (n.*1138G>C)
c.1548G>C (p.Ser516=)
c.1443G>C (p.Ser481=)
n.531G>C
c.1440G>C (p.Ser480=)
c.1362G>C (p.Ser454=)
c.1458G>C (p.Ser486=)
c.*406G>C (n.*406G>C)
n.1956G>C
c.1095G>C (p.Ser365=)
c.1533G>C (p.Ser511=)
c.1446G>C (p.Ser482=)
c.1398G>C (p.Ser466=)
c.1110G>C (p.Ser370=)
c.1545G>C (p.Ser515=)
c.1530G>C (p.Ser510=)
 dbSNP gnomAD v2 gnomAD v4
8g.71215628C>TCA4779461EYA1c.1461G>A (p.Ser487=)
c.1359G>A (p.Ser453=)
c.1356G>A (p.Ser452=)
c.*740G>A (n.*740G>A)
c.851G>A
n.1924G>A
c.*1138G>A (n.*1138G>A)
c.1548G>A (p.Ser516=)
c.1443G>A (p.Ser481=)
n.531G>A
c.1440G>A (p.Ser480=)
c.1362G>A (p.Ser454=)
c.1458G>A (p.Ser486=)
c.*406G>A (n.*406G>A)
n.1956G>A
c.1095G>A (p.Ser365=)
c.1533G>A (p.Ser511=)
c.1446G>A (p.Ser482=)
c.1398G>A (p.Ser466=)
c.1110G>A (p.Ser370=)
c.1545G>A (p.Ser515=)
c.1530G>A (p.Ser510=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
8g.71215629G>ACA4779462EYA1c.1460C>T (p.Ser487Leu)
c.1358C>T (p.Ser453Leu)
c.1355C>T (p.Ser452Leu)
c.*739C>T (n.*739C>T)
c.850C>T
n.1923C>T
c.*1137C>T (n.*1137C>T)
c.1547C>T (p.Ser516Leu)
c.1442C>T (p.Ser481Leu)
n.530C>T
c.1439C>T (p.Ser480Leu)
c.1361C>T (p.Ser454Leu)
c.1457C>T (p.Ser486Leu)
c.*405C>T (n.*405C>T)
n.1955C>T
c.1094C>T (p.Ser365Leu)
c.1532C>T (p.Ser511Leu)
c.1445C>T (p.Ser482Leu)
c.1397C>T (p.Ser466Leu)
c.1109C>T (p.Ser370Leu)
c.1544C>T (p.Ser515Leu)
c.1529C>T (p.Ser510Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.71215629G>CCA371466348EYA1c.1460C>G (p.Ser487Trp)
c.1358C>G (p.Ser453Trp)
c.1355C>G (p.Ser452Trp)
c.*739C>G (n.*739C>G)
c.850C>G
n.1923C>G
c.*1137C>G (n.*1137C>G)
c.1547C>G (p.Ser516Trp)
c.1442C>G (p.Ser481Trp)
n.530C>G
c.1439C>G (p.Ser480Trp)
c.1361C>G (p.Ser454Trp)
c.1457C>G (p.Ser486Trp)
c.*405C>G (n.*405C>G)
n.1955C>G
c.1094C>G (p.Ser365Trp)
c.1532C>G (p.Ser511Trp)
c.1445C>G (p.Ser482Trp)
c.1397C>G (p.Ser466Trp)
c.1109C>G (p.Ser370Trp)
c.1544C>G (p.Ser515Trp)
c.1529C>G (p.Ser510Trp)
 gnomAD v4
8g.71215629G=CA1792691775EYA1c.1460C= (p.Ser487=)
c.1358C= (p.Ser453=)
c.1355C= (p.Ser452=)
c.*739C= (n.*739C=)
c.850C=
n.1923C=
c.*1137C= (n.*1137C=)
c.1547C= (p.Ser516=)
c.1442C= (p.Ser481=)
n.530C=
c.1439C= (p.Ser480=)
c.1361C= (p.Ser454=)
c.1457C= (p.Ser486=)
c.*405C= (n.*405C=)
n.1955C=
c.1094C= (p.Ser365=)
c.1532C= (p.Ser511=)
c.1445C= (p.Ser482=)
c.1397C= (p.Ser466=)
c.1109C= (p.Ser370=)
c.1544C= (p.Ser515=)
c.1529C= (p.Ser510=)
8g.71215629G>TCA371466347EYA1c.1460C>A (p.Ser487Ter)
c.1358C>A (p.Ser453Ter)
c.1355C>A (p.Ser452Ter)
c.*739C>A (n.*739C>A)
c.850C>A
n.1923C>A
c.*1137C>A (n.*1137C>A)
c.1547C>A (p.Ser516Ter)
c.1442C>A (p.Ser481Ter)
n.530C>A
c.1439C>A (p.Ser480Ter)
c.1361C>A (p.Ser454Ter)
c.1457C>A (p.Ser486Ter)
c.*405C>A (n.*405C>A)
n.1955C>A
c.1094C>A (p.Ser365Ter)
c.1532C>A (p.Ser511Ter)
c.1445C>A (p.Ser482Ter)
c.1397C>A (p.Ser466Ter)
c.1109C>A (p.Ser370Ter)
c.1544C>A (p.Ser515Ter)
c.1529C>A (p.Ser510Ter)
 ClinVar dbSNP
8g.71215630A=CA1792691784EYA1c.1459T= (p.Ser487=)
c.1357T= (p.Ser453=)
c.1354T= (p.Ser452=)
c.*738T= (n.*738T=)
c.849T=
n.1922T=
c.*1136T= (n.*1136T=)
c.1546T= (p.Ser516=)
c.1441T= (p.Ser481=)
n.529T=
c.1438T= (p.Ser480=)
c.1360T= (p.Ser454=)
c.1456T= (p.Ser486=)
c.*404T= (n.*404T=)
n.1954T=
c.1093T= (p.Ser365=)
c.1531T= (p.Ser511=)
c.1444T= (p.Ser482=)
c.1396T= (p.Ser466=)
c.1108T= (p.Ser370=)
c.1543T= (p.Ser515=)
c.1528T= (p.Ser510=)
8g.71215630A>CCA371466349EYA1c.1459T>G (p.Ser487Ala)
c.1357T>G (p.Ser453Ala)
c.1354T>G (p.Ser452Ala)
c.*738T>G (n.*738T>G)
c.849T>G
n.1922T>G
c.*1136T>G (n.*1136T>G)
c.1546T>G (p.Ser516Ala)
c.1441T>G (p.Ser481Ala)
n.529T>G
c.1438T>G (p.Ser480Ala)
c.1360T>G (p.Ser454Ala)
c.1456T>G (p.Ser486Ala)
c.*404T>G (n.*404T>G)
n.1954T>G
c.1093T>G (p.Ser365Ala)
c.1531T>G (p.Ser511Ala)
c.1444T>G (p.Ser482Ala)
c.1396T>G (p.Ser466Ala)
c.1108T>G (p.Ser370Ala)
c.1543T>G (p.Ser515Ala)
c.1528T>G (p.Ser510Ala)
8g.71215630A>GCA254274EYA1c.1459T>C (p.Ser487Pro)
c.1357T>C (p.Ser453Pro)
c.1354T>C (p.Ser452Pro)
c.*738T>C (n.*738T>C)
c.849T>C
n.1922T>C
c.*1136T>C (n.*1136T>C)
c.1546T>C (p.Ser516Pro)
c.1441T>C (p.Ser481Pro)
n.529T>C
c.1438T>C (p.Ser480Pro)
c.1360T>C (p.Ser454Pro)
c.1456T>C (p.Ser486Pro)
c.*404T>C (n.*404T>C)
n.1954T>C
c.1093T>C (p.Ser365Pro)
c.1531T>C (p.Ser511Pro)
c.1444T>C (p.Ser482Pro)
c.1396T>C (p.Ser466Pro)
c.1108T>C (p.Ser370Pro)
c.1543T>C (p.Ser515Pro)
c.1528T>C (p.Ser510Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.71215630A>TCA371466350EYA1c.1459T>A (p.Ser487Thr)
c.1357T>A (p.Ser453Thr)
c.1354T>A (p.Ser452Thr)
c.*738T>A (n.*738T>A)
c.849T>A
n.1922T>A
c.*1136T>A (n.*1136T>A)
c.1546T>A (p.Ser516Thr)
c.1441T>A (p.Ser481Thr)
n.529T>A
c.1438T>A (p.Ser480Thr)
c.1360T>A (p.Ser454Thr)
c.1456T>A (p.Ser486Thr)
c.*404T>A (n.*404T>A)
n.1954T>A
c.1093T>A (p.Ser365Thr)
c.1531T>A (p.Ser511Thr)
c.1444T>A (p.Ser482Thr)
c.1396T>A (p.Ser466Thr)
c.1108T>A (p.Ser370Thr)
c.1543T>A (p.Ser515Thr)
c.1528T>A (p.Ser510Thr)
8g.71215631G>ACA461325078EYA1c.1458C>T (p.Leu486=)
c.1356C>T (p.Leu452=)
c.1353C>T (p.Leu451=)
c.*737C>T (n.*737C>T)
c.848C>T
n.1921C>T
c.*1135C>T (n.*1135C>T)
c.1545C>T (p.Leu515=)
c.1440C>T (p.Leu480=)
n.528C>T
c.1437C>T (p.Leu479=)
c.1359C>T (p.Leu453=)
c.1455C>T (p.Leu485=)
c.*403C>T (n.*403C>T)
n.1953C>T
c.1092C>T (p.Leu364=)
c.1530C>T (p.Leu510=)
c.1443C>T (p.Leu481=)
c.1395C>T (p.Leu465=)
c.1107C>T (p.Leu369=)
c.1542C>T (p.Leu514=)
c.1527C>T (p.Leu509=)
 gnomAD v4
8g.71215631G>CCA461325079EYA1c.1458C>G (p.Leu486=)
c.1356C>G (p.Leu452=)
c.1353C>G (p.Leu451=)
c.*737C>G (n.*737C>G)
c.848C>G
n.1921C>G
c.*1135C>G (n.*1135C>G)
c.1545C>G (p.Leu515=)
c.1440C>G (p.Leu480=)
n.528C>G
c.1437C>G (p.Leu479=)
c.1359C>G (p.Leu453=)
c.1455C>G (p.Leu485=)
c.*403C>G (n.*403C>G)
n.1953C>G
c.1092C>G (p.Leu364=)
c.1530C>G (p.Leu510=)
c.1443C>G (p.Leu481=)
c.1395C>G (p.Leu465=)
c.1107C>G (p.Leu369=)
c.1542C>G (p.Leu514=)
c.1527C>G (p.Leu509=)
8g.71215631G>TCA461325080EYA1c.1458C>A (p.Leu486=)
c.1356C>A (p.Leu452=)
c.1353C>A (p.Leu451=)
c.*737C>A (n.*737C>A)
c.848C>A
n.1921C>A
c.*1135C>A (n.*1135C>A)
c.1545C>A (p.Leu515=)
c.1440C>A (p.Leu480=)
n.528C>A
c.1437C>A (p.Leu479=)
c.1359C>A (p.Leu453=)
c.1455C>A (p.Leu485=)
c.*403C>A (n.*403C>A)
n.1953C>A
c.1092C>A (p.Leu364=)
c.1530C>A (p.Leu510=)
c.1443C>A (p.Leu481=)
c.1395C>A (p.Leu465=)
c.1107C>A (p.Leu369=)
c.1542C>A (p.Leu514=)
c.1527C>A (p.Leu509=)
8g.71215631dupCA2687599561EYA1c.1458dup (p.Ser487LeufsTer?)
c.1356dup (p.Ser453LeufsTer?)
c.1353dup (p.Ser452LeufsTer?)
c.*737dup (n.*737dup)
c.848dup
n.1921dup
c.*1135dup (n.*1135dup)
c.1545dup (p.Ser516LeufsTer?)
c.1440dup (p.Ser481LeufsTer?)
n.528dup
c.1437dup (p.Ser480LeufsTer?)
c.1359dup (p.Ser454LeufsTer?)
c.1455dup (p.Ser486LeufsTer?)
c.*403dup (n.*403dup)
n.1953dup
c.1092dup (p.Ser365LeufsTer?)
c.1530dup (p.Ser511LeufsTer?)
c.1443dup (p.Ser482LeufsTer?)
c.1395dup (p.Ser466LeufsTer?)
c.1107dup (p.Ser370LeufsTer?)
c.1542dup (p.Ser515LeufsTer?)
c.1527dup (p.Ser510LeufsTer?)
 gnomAD v4
8g.71215632A>CCA371466351EYA1c.1457T>G (p.Leu486Arg)
c.1355T>G (p.Leu452Arg)
c.1352T>G (p.Leu451Arg)
c.*736T>G (n.*736T>G)
c.847T>G
n.1920T>G
c.*1134T>G (n.*1134T>G)
c.1544T>G (p.Leu515Arg)
c.1439T>G (p.Leu480Arg)
n.527T>G
c.1436T>G (p.Leu479Arg)
c.1358T>G (p.Leu453Arg)
c.1454T>G (p.Leu485Arg)
c.*402T>G (n.*402T>G)
n.1952T>G
c.1091T>G (p.Leu364Arg)
c.1529T>G (p.Leu510Arg)
c.1442T>G (p.Leu481Arg)
c.1394T>G (p.Leu465Arg)
c.1106T>G (p.Leu369Arg)
c.1541T>G (p.Leu514Arg)
c.1526T>G (p.Leu509Arg)
8g.71215632A>GCA371466352EYA1c.1457T>C (p.Leu486Pro)
c.1355T>C (p.Leu452Pro)
c.1352T>C (p.Leu451Pro)
c.*736T>C (n.*736T>C)
c.847T>C
n.1920T>C
c.*1134T>C (n.*1134T>C)
c.1544T>C (p.Leu515Pro)
c.1439T>C (p.Leu480Pro)
n.527T>C
c.1436T>C (p.Leu479Pro)
c.1358T>C (p.Leu453Pro)
c.1454T>C (p.Leu485Pro)
c.*402T>C (n.*402T>C)
n.1952T>C
c.1091T>C (p.Leu364Pro)
c.1529T>C (p.Leu510Pro)
c.1442T>C (p.Leu481Pro)
c.1394T>C (p.Leu465Pro)
c.1106T>C (p.Leu369Pro)
c.1541T>C (p.Leu514Pro)
c.1526T>C (p.Leu509Pro)
8g.71215632A>TCA371466353EYA1c.1457T>A (p.Leu486His)
c.1355T>A (p.Leu452His)
c.1352T>A (p.Leu451His)
c.*736T>A (n.*736T>A)
c.847T>A
n.1920T>A
c.*1134T>A (n.*1134T>A)
c.1544T>A (p.Leu515His)
c.1439T>A (p.Leu480His)
n.527T>A
c.1436T>A (p.Leu479His)
c.1358T>A (p.Leu453His)
c.1454T>A (p.Leu485His)
c.*402T>A (n.*402T>A)
n.1952T>A
c.1091T>A (p.Leu364His)
c.1529T>A (p.Leu510His)
c.1442T>A (p.Leu481His)
c.1394T>A (p.Leu465His)
c.1106T>A (p.Leu369His)
c.1541T>A (p.Leu514His)
c.1526T>A (p.Leu509His)
8g.71215633G>ACA371466354EYA1c.1456C>T (p.Leu486Phe)
c.1354C>T (p.Leu452Phe)
c.1351C>T (p.Leu451Phe)
c.*735C>T (n.*735C>T)
c.846C>T
n.1919C>T
c.*1133C>T (n.*1133C>T)
c.1543C>T (p.Leu515Phe)
c.1438C>T (p.Leu480Phe)
n.526C>T
c.1435C>T (p.Leu479Phe)
c.1357C>T (p.Leu453Phe)
c.1453C>T (p.Leu485Phe)
c.*401C>T (n.*401C>T)
n.1951C>T
c.1090C>T (p.Leu364Phe)
c.1528C>T (p.Leu510Phe)
c.1441C>T (p.Leu481Phe)
c.1393C>T (p.Leu465Phe)
c.1105C>T (p.Leu369Phe)
c.1540C>T (p.Leu514Phe)
c.1525C>T (p.Leu509Phe)
8g.71215633G>CCA371466355EYA1c.1456C>G (p.Leu486Val)
c.1354C>G (p.Leu452Val)
c.1351C>G (p.Leu451Val)
c.*735C>G (n.*735C>G)
c.846C>G
n.1919C>G
c.*1133C>G (n.*1133C>G)
c.1543C>G (p.Leu515Val)
c.1438C>G (p.Leu480Val)
n.526C>G
c.1435C>G (p.Leu479Val)
c.1357C>G (p.Leu453Val)
c.1453C>G (p.Leu485Val)
c.*401C>G (n.*401C>G)
n.1951C>G
c.1090C>G (p.Leu364Val)
c.1528C>G (p.Leu510Val)
c.1441C>G (p.Leu481Val)
c.1393C>G (p.Leu465Val)
c.1105C>G (p.Leu369Val)
c.1540C>G (p.Leu514Val)
c.1525C>G (p.Leu509Val)
8g.71215633G>TCA371466356EYA1c.1456C>A (p.Leu486Ile)
c.1354C>A (p.Leu452Ile)
c.1351C>A (p.Leu451Ile)
c.*735C>A (n.*735C>A)
c.846C>A
n.1919C>A
c.*1133C>A (n.*1133C>A)
c.1543C>A (p.Leu515Ile)
c.1438C>A (p.Leu480Ile)
n.526C>A
c.1435C>A (p.Leu479Ile)
c.1357C>A (p.Leu453Ile)
c.1453C>A (p.Leu485Ile)
c.*401C>A (n.*401C>A)
n.1951C>A
c.1090C>A (p.Leu364Ile)
c.1528C>A (p.Leu510Ile)
c.1441C>A (p.Leu481Ile)
c.1393C>A (p.Leu465Ile)
c.1105C>A (p.Leu369Ile)
c.1540C>A (p.Leu514Ile)
c.1525C>A (p.Leu509Ile)
8g.71215634T>ACA461325081EYA1c.1455A>T (p.Ala485=)
c.1353A>T (p.Ala451=)
c.1350A>T (p.Ala450=)
c.*734A>T (n.*734A>T)
c.845A>T
n.1918A>T
c.*1132A>T (n.*1132A>T)
c.1542A>T (p.Ala514=)
c.1437A>T (p.Ala479=)
n.525A>T
c.1434A>T (p.Ala478=)
c.1356A>T (p.Ala452=)
c.1452A>T (p.Ala484=)
c.*400A>T (n.*400A>T)
n.1950A>T
c.1089A>T (p.Ala363=)
c.1527A>T (p.Ala509=)
c.1440A>T (p.Ala480=)
c.1392A>T (p.Ala464=)
c.1104A>T (p.Ala368=)
c.1539A>T (p.Ala513=)
c.1524A>T (p.Ala508=)
8g.71215634T>CCA461325082EYA1c.1455A>G (p.Ala485=)
c.1353A>G (p.Ala451=)
c.1350A>G (p.Ala450=)
c.*734A>G (n.*734A>G)
c.845A>G
n.1918A>G
c.*1132A>G (n.*1132A>G)
c.1542A>G (p.Ala514=)
c.1437A>G (p.Ala479=)
n.525A>G
c.1434A>G (p.Ala478=)
c.1356A>G (p.Ala452=)
c.1452A>G (p.Ala484=)
c.*400A>G (n.*400A>G)
n.1950A>G
c.1089A>G (p.Ala363=)
c.1527A>G (p.Ala509=)
c.1440A>G (p.Ala480=)
c.1392A>G (p.Ala464=)
c.1104A>G (p.Ala368=)
c.1539A>G (p.Ala513=)
c.1524A>G (p.Ala508=)
 gnomAD v4
8g.71215634T>GCA4779463EYA1c.1455A>C (p.Ala485=)
c.1353A>C (p.Ala451=)
c.1350A>C (p.Ala450=)
c.*734A>C (n.*734A>C)
c.845A>C
n.1918A>C
c.*1132A>C (n.*1132A>C)
c.1542A>C (p.Ala514=)
c.1437A>C (p.Ala479=)
n.525A>C
c.1434A>C (p.Ala478=)
c.1356A>C (p.Ala452=)
c.1452A>C (p.Ala484=)
c.*400A>C (n.*400A>C)
n.1950A>C
c.1089A>C (p.Ala363=)
c.1527A>C (p.Ala509=)
c.1440A>C (p.Ala480=)
c.1392A>C (p.Ala464=)
c.1104A>C (p.Ala368=)
c.1539A>C (p.Ala513=)
c.1524A>C (p.Ala508=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.71215634T=CA1792691790EYA1c.1455A= (p.Ala485=)
c.1353A= (p.Ala451=)
c.1350A= (p.Ala450=)
c.*734A= (n.*734A=)
c.845A=
n.1918A=
c.*1132A= (n.*1132A=)
c.1542A= (p.Ala514=)
c.1437A= (p.Ala479=)
n.525A=
c.1434A= (p.Ala478=)
c.1356A= (p.Ala452=)
c.1452A= (p.Ala484=)
c.*400A= (n.*400A=)
n.1950A=
c.1089A= (p.Ala363=)
c.1527A= (p.Ala509=)
c.1440A= (p.Ala480=)
c.1392A= (p.Ala464=)
c.1104A= (p.Ala368=)
c.1539A= (p.Ala513=)
c.1524A= (p.Ala508=)
8g.71215635G>ACA4779464EYA1c.1454C>T (p.Ala485Val)
c.1352C>T (p.Ala451Val)
c.1349C>T (p.Ala450Val)
c.*733C>T (n.*733C>T)
c.844C>T
n.1917C>T
c.*1131C>T (n.*1131C>T)
c.1541C>T (p.Ala514Val)
c.1436C>T (p.Ala479Val)
n.524C>T
c.1433C>T (p.Ala478Val)
c.1355C>T (p.Ala452Val)
c.1451C>T (p.Ala484Val)
c.*399C>T (n.*399C>T)
n.1949C>T
c.1088C>T (p.Ala363Val)
c.1526C>T (p.Ala509Val)
c.1439C>T (p.Ala480Val)
c.1391C>T (p.Ala464Val)
c.1103C>T (p.Ala368Val)
c.1538C>T (p.Ala513Val)
c.1523C>T (p.Ala508Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.71215635G>CCA371466357EYA1c.1454C>G (p.Ala485Gly)
c.1352C>G (p.Ala451Gly)
c.1349C>G (p.Ala450Gly)
c.*733C>G (n.*733C>G)
c.844C>G
n.1917C>G
c.*1131C>G (n.*1131C>G)
c.1541C>G (p.Ala514Gly)
c.1436C>G (p.Ala479Gly)
n.524C>G
c.1433C>G (p.Ala478Gly)
c.1355C>G (p.Ala452Gly)
c.1451C>G (p.Ala484Gly)
c.*399C>G (n.*399C>G)
n.1949C>G
c.1088C>G (p.Ala363Gly)
c.1526C>G (p.Ala509Gly)
c.1439C>G (p.Ala480Gly)
c.1391C>G (p.Ala464Gly)
c.1103C>G (p.Ala368Gly)
c.1538C>G (p.Ala513Gly)
c.1523C>G (p.Ala508Gly)
8g.71215635G=CA1792691795EYA1c.1454C= (p.Ala485=)
c.1352C= (p.Ala451=)
c.1349C= (p.Ala450=)
c.*733C= (n.*733C=)
c.844C=
n.1917C=
c.*1131C= (n.*1131C=)
c.1541C= (p.Ala514=)
c.1436C= (p.Ala479=)
n.524C=
c.1433C= (p.Ala478=)
c.1355C= (p.Ala452=)
c.1451C= (p.Ala484=)
c.*399C= (n.*399C=)
n.1949C=
c.1088C= (p.Ala363=)
c.1526C= (p.Ala509=)
c.1439C= (p.Ala480=)
c.1391C= (p.Ala464=)
c.1103C= (p.Ala368=)
c.1538C= (p.Ala513=)
c.1523C= (p.Ala508=)
8g.71215635G>TCA371466358EYA1c.1454C>A (p.Ala485Glu)
c.1352C>A (p.Ala451Glu)
c.1349C>A (p.Ala450Glu)
c.*733C>A (n.*733C>A)
c.844C>A
n.1917C>A
c.*1131C>A (n.*1131C>A)
c.1541C>A (p.Ala514Glu)
c.1436C>A (p.Ala479Glu)
n.524C>A
c.1433C>A (p.Ala478Glu)
c.1355C>A (p.Ala452Glu)
c.1451C>A (p.Ala484Glu)
c.*399C>A (n.*399C>A)
n.1949C>A
c.1088C>A (p.Ala363Glu)
c.1526C>A (p.Ala509Glu)
c.1439C>A (p.Ala480Glu)
c.1391C>A (p.Ala464Glu)
c.1103C>A (p.Ala368Glu)
c.1538C>A (p.Ala513Glu)
c.1523C>A (p.Ala508Glu)
8g.71215636C>ACA371466359EYA1c.1453G>T (p.Ala485Ser)
c.1351G>T (p.Ala451Ser)
c.1348G>T (p.Ala450Ser)
c.*732G>T (n.*732G>T)
c.843G>T
n.1916G>T
c.*1130G>T (n.*1130G>T)
c.1540G>T (p.Ala514Ser)
c.1435G>T (p.Ala479Ser)
n.523G>T
c.1432G>T (p.Ala478Ser)
c.1354G>T (p.Ala452Ser)
c.1450G>T (p.Ala484Ser)
c.*398G>T (n.*398G>T)
n.1948G>T
c.1087G>T (p.Ala363Ser)
c.1525G>T (p.Ala509Ser)
c.1438G>T (p.Ala480Ser)
c.1390G>T (p.Ala464Ser)
c.1102G>T (p.Ala368Ser)
c.1537G>T (p.Ala513Ser)
c.1522G>T (p.Ala508Ser)
 dbSNP gnomAD v4
8g.71215636C=CA1792691798EYA1c.1453G= (p.Ala485=)
c.1351G= (p.Ala451=)
c.1348G= (p.Ala450=)
c.*732G= (n.*732G=)
c.843G=
n.1916G=
c.*1130G= (n.*1130G=)
c.1540G= (p.Ala514=)
c.1435G= (p.Ala479=)
n.523G=
c.1432G= (p.Ala478=)
c.1354G= (p.Ala452=)
c.1450G= (p.Ala484=)
c.*398G= (n.*398G=)
n.1948G=
c.1087G= (p.Ala363=)
c.1525G= (p.Ala509=)
c.1438G= (p.Ala480=)
c.1390G= (p.Ala464=)
c.1102G= (p.Ala368=)
c.1537G= (p.Ala513=)
c.1522G= (p.Ala508=)
8g.71215636C>GCA371466360EYA1c.1453G>C (p.Ala485Pro)
c.1351G>C (p.Ala451Pro)
c.1348G>C (p.Ala450Pro)
c.*732G>C (n.*732G>C)
c.843G>C
n.1916G>C
c.*1130G>C (n.*1130G>C)
c.1540G>C (p.Ala514Pro)
c.1435G>C (p.Ala479Pro)
n.523G>C
c.1432G>C (p.Ala478Pro)
c.1354G>C (p.Ala452Pro)
c.1450G>C (p.Ala484Pro)
c.*398G>C (n.*398G>C)
n.1948G>C
c.1087G>C (p.Ala363Pro)
c.1525G>C (p.Ala509Pro)
c.1438G>C (p.Ala480Pro)
c.1390G>C (p.Ala464Pro)
c.1102G>C (p.Ala368Pro)
c.1537G>C (p.Ala513Pro)
c.1522G>C (p.Ala508Pro)
8g.71215636C>TCA371466361EYA1c.1453G>A (p.Ala485Thr)
c.1351G>A (p.Ala451Thr)
c.1348G>A (p.Ala450Thr)
c.*732G>A (n.*732G>A)
c.843G>A
n.1916G>A
c.*1130G>A (n.*1130G>A)
c.1540G>A (p.Ala514Thr)
c.1435G>A (p.Ala479Thr)
n.523G>A
c.1432G>A (p.Ala478Thr)
c.1354G>A (p.Ala452Thr)
c.1450G>A (p.Ala484Thr)
c.*398G>A (n.*398G>A)
n.1948G>A
c.1087G>A (p.Ala363Thr)
c.1525G>A (p.Ala509Thr)
c.1438G>A (p.Ala480Thr)
c.1390G>A (p.Ala464Thr)
c.1102G>A (p.Ala368Thr)
c.1537G>A (p.Ala513Thr)
c.1522G>A (p.Ala508Thr)
8g.71215637T>ACA371466362EYA1c.1452A>T (p.Lys484Asn)
c.1350A>T (p.Lys450Asn)
c.1347A>T (p.Lys449Asn)
c.*731A>T (n.*731A>T)
c.842A>T
n.1915A>T
c.*1129A>T (n.*1129A>T)
c.1539A>T (p.Lys513Asn)
c.1434A>T (p.Lys478Asn)
n.522A>T
c.1431A>T (p.Lys477Asn)
c.1353A>T (p.Lys451Asn)
c.1449A>T (p.Lys483Asn)
c.*397A>T (n.*397A>T)
n.1947A>T
c.1086A>T (p.Lys362Asn)
c.1524A>T (p.Lys508Asn)
c.1437A>T (p.Lys479Asn)
c.1389A>T (p.Lys463Asn)
c.1101A>T (p.Lys367Asn)
c.1536A>T (p.Lys512Asn)
c.1521A>T (p.Lys507Asn)
8g.71215637T>CCA461325083EYA1c.1452A>G (p.Lys484=)
c.1350A>G (p.Lys450=)
c.1347A>G (p.Lys449=)
c.*731A>G (n.*731A>G)
c.842A>G
n.1915A>G
c.*1129A>G (n.*1129A>G)
c.1539A>G (p.Lys513=)
c.1434A>G (p.Lys478=)
n.522A>G
c.1431A>G (p.Lys477=)
c.1353A>G (p.Lys451=)
c.1449A>G (p.Lys483=)
c.*397A>G (n.*397A>G)
n.1947A>G
c.1086A>G (p.Lys362=)
c.1524A>G (p.Lys508=)
c.1437A>G (p.Lys479=)
c.1389A>G (p.Lys463=)
c.1101A>G (p.Lys367=)
c.1536A>G (p.Lys512=)
c.1521A>G (p.Lys507=)
8g.71215637T>GCA371466363EYA1c.1452A>C (p.Lys484Asn)
c.1350A>C (p.Lys450Asn)
c.1347A>C (p.Lys449Asn)
c.*731A>C (n.*731A>C)
c.842A>C
n.1915A>C
c.*1129A>C (n.*1129A>C)
c.1539A>C (p.Lys513Asn)
c.1434A>C (p.Lys478Asn)
n.522A>C
c.1431A>C (p.Lys477Asn)
c.1353A>C (p.Lys451Asn)
c.1449A>C (p.Lys483Asn)
c.*397A>C (n.*397A>C)
n.1947A>C
c.1086A>C (p.Lys362Asn)
c.1524A>C (p.Lys508Asn)
c.1437A>C (p.Lys479Asn)
c.1389A>C (p.Lys463Asn)
c.1101A>C (p.Lys367Asn)
c.1536A>C (p.Lys512Asn)
c.1521A>C (p.Lys507Asn)
8g.71215638T>ACA371466364EYA1c.1451A>T (p.Lys484Ile)
c.1349A>T (p.Lys450Ile)
c.1346A>T (p.Lys449Ile)
c.*730A>T (n.*730A>T)
c.841A>T
n.1914A>T
c.*1128A>T (n.*1128A>T)
c.1538A>T (p.Lys513Ile)
c.1433A>T (p.Lys478Ile)
n.521A>T
c.1430A>T (p.Lys477Ile)
c.1352A>T (p.Lys451Ile)
c.1448A>T (p.Lys483Ile)
c.*396A>T (n.*396A>T)
n.1946A>T
c.1085A>T (p.Lys362Ile)
c.1523A>T (p.Lys508Ile)
c.1436A>T (p.Lys479Ile)
c.1388A>T (p.Lys463Ile)
c.1100A>T (p.Lys367Ile)
c.1535A>T (p.Lys512Ile)
c.1520A>T (p.Lys507Ile)
8g.71215638T>CCA371466365EYA1c.1451A>G (p.Lys484Arg)
c.1349A>G (p.Lys450Arg)
c.1346A>G (p.Lys449Arg)
c.*730A>G (n.*730A>G)
c.841A>G
n.1914A>G
c.*1128A>G (n.*1128A>G)
c.1538A>G (p.Lys513Arg)
c.1433A>G (p.Lys478Arg)
n.521A>G
c.1430A>G (p.Lys477Arg)
c.1352A>G (p.Lys451Arg)
c.1448A>G (p.Lys483Arg)
c.*396A>G (n.*396A>G)
n.1946A>G
c.1085A>G (p.Lys362Arg)
c.1523A>G (p.Lys508Arg)
c.1436A>G (p.Lys479Arg)
c.1388A>G (p.Lys463Arg)
c.1100A>G (p.Lys367Arg)
c.1535A>G (p.Lys512Arg)
c.1520A>G (p.Lys507Arg)
8g.71215638T>GCA371466366EYA1c.1451A>C (p.Lys484Thr)
c.1349A>C (p.Lys450Thr)
c.1346A>C (p.Lys449Thr)
c.*730A>C (n.*730A>C)
c.841A>C
n.1914A>C
c.*1128A>C (n.*1128A>C)
c.1538A>C (p.Lys513Thr)
c.1433A>C (p.Lys478Thr)
n.521A>C
c.1430A>C (p.Lys477Thr)
c.1352A>C (p.Lys451Thr)
c.1448A>C (p.Lys483Thr)
c.*396A>C (n.*396A>C)
n.1946A>C
c.1085A>C (p.Lys362Thr)
c.1523A>C (p.Lys508Thr)
c.1436A>C (p.Lys479Thr)
c.1388A>C (p.Lys463Thr)
c.1100A>C (p.Lys367Thr)
c.1535A>C (p.Lys512Thr)
c.1520A>C (p.Lys507Thr)
8g.71215639T>ACA371466367EYA1c.1450A>T (p.Lys484Ter)
c.1348A>T (p.Lys450Ter)
c.1345A>T (p.Lys449Ter)
c.*729A>T (n.*729A>T)
c.840A>T
n.1913A>T
c.*1127A>T (n.*1127A>T)
c.1537A>T (p.Lys513Ter)
c.1432A>T (p.Lys478Ter)
n.520A>T
c.1429A>T (p.Lys477Ter)
c.1351A>T (p.Lys451Ter)
c.1447A>T (p.Lys483Ter)
c.*395A>T (n.*395A>T)
n.1945A>T
c.1084A>T (p.Lys362Ter)
c.1522A>T (p.Lys508Ter)
c.1435A>T (p.Lys479Ter)
c.1387A>T (p.Lys463Ter)
c.1099A>T (p.Lys367Ter)
c.1534A>T (p.Lys512Ter)
c.1519A>T (p.Lys507Ter)
8g.71215639T>CCA371466368EYA1c.1450A>G (p.Lys484Glu)
c.1348A>G (p.Lys450Glu)
c.1345A>G (p.Lys449Glu)
c.*729A>G (n.*729A>G)
c.840A>G
n.1913A>G
c.*1127A>G (n.*1127A>G)
c.1537A>G (p.Lys513Glu)
c.1432A>G (p.Lys478Glu)
n.520A>G
c.1429A>G (p.Lys477Glu)
c.1351A>G (p.Lys451Glu)
c.1447A>G (p.Lys483Glu)
c.*395A>G (n.*395A>G)
n.1945A>G
c.1084A>G (p.Lys362Glu)
c.1522A>G (p.Lys508Glu)
c.1435A>G (p.Lys479Glu)
c.1387A>G (p.Lys463Glu)
c.1099A>G (p.Lys367Glu)
c.1534A>G (p.Lys512Glu)
c.1519A>G (p.Lys507Glu)
8g.71215639T>GCA371466369EYA1c.1450A>C (p.Lys484Gln)
c.1348A>C (p.Lys450Gln)
c.1345A>C (p.Lys449Gln)
c.*729A>C (n.*729A>C)
c.840A>C
n.1913A>C
c.*1127A>C (n.*1127A>C)
c.1537A>C (p.Lys513Gln)
c.1432A>C (p.Lys478Gln)
n.520A>C
c.1429A>C (p.Lys477Gln)
c.1351A>C (p.Lys451Gln)
c.1447A>C (p.Lys483Gln)
c.*395A>C (n.*395A>C)
n.1945A>C
c.1084A>C (p.Lys362Gln)
c.1522A>C (p.Lys508Gln)
c.1435A>C (p.Lys479Gln)
c.1387A>C (p.Lys463Gln)
c.1099A>C (p.Lys367Gln)
c.1534A>C (p.Lys512Gln)
c.1519A>C (p.Lys507Gln)
8g.71215640C>ACA461325084EYA1c.1449G>T (p.Leu483=)
c.1347G>T (p.Leu449=)
c.1344G>T (p.Leu448=)
c.*728G>T (n.*728G>T)
c.839G>T
n.1912G>T
c.*1126G>T (n.*1126G>T)
c.1536G>T (p.Leu512=)
c.1431G>T (p.Leu477=)
n.519G>T
c.1428G>T (p.Leu476=)
c.1350G>T (p.Leu450=)
c.1446G>T (p.Leu482=)
c.*394G>T (n.*394G>T)
n.1944G>T
c.1083G>T (p.Leu361=)
c.1521G>T (p.Leu507=)
c.1434G>T (p.Leu478=)
c.1386G>T (p.Leu462=)
c.1098G>T (p.Leu366=)
c.1533G>T (p.Leu511=)
c.1518G>T (p.Leu506=)
8g.71215640C>GCA461325085EYA1c.1449G>C (p.Leu483=)
c.1347G>C (p.Leu449=)
c.1344G>C (p.Leu448=)
c.*728G>C (n.*728G>C)
c.839G>C
n.1912G>C
c.*1126G>C (n.*1126G>C)
c.1536G>C (p.Leu512=)
c.1431G>C (p.Leu477=)
n.519G>C
c.1428G>C (p.Leu476=)
c.1350G>C (p.Leu450=)
c.1446G>C (p.Leu482=)
c.*394G>C (n.*394G>C)
n.1944G>C
c.1083G>C (p.Leu361=)
c.1521G>C (p.Leu507=)
c.1434G>C (p.Leu478=)
c.1386G>C (p.Leu462=)
c.1098G>C (p.Leu366=)
c.1533G>C (p.Leu511=)
c.1518G>C (p.Leu506=)
8g.71215640C>TCA461325086EYA1c.1449G>A (p.Leu483=)
c.1347G>A (p.Leu449=)
c.1344G>A (p.Leu448=)
c.*728G>A (n.*728G>A)
c.839G>A
n.1912G>A
c.*1126G>A (n.*1126G>A)
c.1536G>A (p.Leu512=)
c.1431G>A (p.Leu477=)
n.519G>A
c.1428G>A (p.Leu476=)
c.1350G>A (p.Leu450=)
c.1446G>A (p.Leu482=)
c.*394G>A (n.*394G>A)
n.1944G>A
c.1083G>A (p.Leu361=)
c.1521G>A (p.Leu507=)
c.1434G>A (p.Leu478=)
c.1386G>A (p.Leu462=)
c.1098G>A (p.Leu366=)
c.1533G>A (p.Leu511=)
c.1518G>A (p.Leu506=)
 gnomAD v4 COSMIC COSMIC
8g.71215641A>CCA371466370EYA1c.1448T>G (p.Leu483Arg)
c.1346T>G (p.Leu449Arg)
c.1343T>G (p.Leu448Arg)
c.*727T>G (n.*727T>G)
c.838T>G
n.1911T>G
c.*1125T>G (n.*1125T>G)
c.1535T>G (p.Leu512Arg)
c.1430T>G (p.Leu477Arg)
n.518T>G
c.1427T>G (p.Leu476Arg)
c.1349T>G (p.Leu450Arg)
c.1445T>G (p.Leu482Arg)
c.*393T>G (n.*393T>G)
n.1943T>G
c.1082T>G (p.Leu361Arg)
c.1520T>G (p.Leu507Arg)
c.1433T>G (p.Leu478Arg)
c.1385T>G (p.Leu462Arg)
c.1097T>G (p.Leu366Arg)
c.1532T>G (p.Leu511Arg)
c.1517T>G (p.Leu506Arg)
8g.71215641A>GCA371466371EYA1c.1448T>C (p.Leu483Pro)
c.1346T>C (p.Leu449Pro)
c.1343T>C (p.Leu448Pro)
c.*727T>C (n.*727T>C)
c.838T>C
n.1911T>C
c.*1125T>C (n.*1125T>C)
c.1535T>C (p.Leu512Pro)
c.1430T>C (p.Leu477Pro)
n.518T>C
c.1427T>C (p.Leu476Pro)
c.1349T>C (p.Leu450Pro)
c.1445T>C (p.Leu482Pro)
c.*393T>C (n.*393T>C)
n.1943T>C
c.1082T>C (p.Leu361Pro)
c.1520T>C (p.Leu507Pro)
c.1433T>C (p.Leu478Pro)
c.1385T>C (p.Leu462Pro)
c.1097T>C (p.Leu366Pro)
c.1532T>C (p.Leu511Pro)
c.1517T>C (p.Leu506Pro)
 ClinVar
8g.71215641A>TCA371466372EYA1c.1448T>A (p.Leu483Gln)
c.1346T>A (p.Leu449Gln)
c.1343T>A (p.Leu448Gln)
c.*727T>A (n.*727T>A)
c.838T>A
n.1911T>A
c.*1125T>A (n.*1125T>A)
c.1535T>A (p.Leu512Gln)
c.1430T>A (p.Leu477Gln)
n.518T>A
c.1427T>A (p.Leu476Gln)
c.1349T>A (p.Leu450Gln)
c.1445T>A (p.Leu482Gln)
c.*393T>A (n.*393T>A)
n.1943T>A
c.1082T>A (p.Leu361Gln)
c.1520T>A (p.Leu507Gln)
c.1433T>A (p.Leu478Gln)
c.1385T>A (p.Leu462Gln)
c.1097T>A (p.Leu366Gln)
c.1532T>A (p.Leu511Gln)
c.1517T>A (p.Leu506Gln)
8g.71215642G>ACA461325089EYA1c.1447C>T (p.Leu483=)
c.1345C>T (p.Leu449=)
c.1342C>T (p.Leu448=)
c.*726C>T (n.*726C>T)
c.837C>T
n.1910C>T
c.*1124C>T (n.*1124C>T)
c.1534C>T (p.Leu512=)
c.1429C>T (p.Leu477=)
n.517C>T
c.1426C>T (p.Leu476=)
c.1348C>T (p.Leu450=)
c.1444C>T (p.Leu482=)
c.*392C>T (n.*392C>T)
n.1942C>T
c.1081C>T (p.Leu361=)
c.1519C>T (p.Leu507=)
c.1432C>T (p.Leu478=)
c.1384C>T (p.Leu462=)
c.1096C>T (p.Leu366=)
c.1531C>T (p.Leu511=)
c.1516C>T (p.Leu506=)
8g.71215642G>CCA371466373EYA1c.1447C>G (p.Leu483Val)
c.1345C>G (p.Leu449Val)
c.1342C>G (p.Leu448Val)
c.*726C>G (n.*726C>G)
c.837C>G
n.1910C>G
c.*1124C>G (n.*1124C>G)
c.1534C>G (p.Leu512Val)
c.1429C>G (p.Leu477Val)
n.517C>G
c.1426C>G (p.Leu476Val)
c.1348C>G (p.Leu450Val)
c.1444C>G (p.Leu482Val)
c.*392C>G (n.*392C>G)
n.1942C>G
c.1081C>G (p.Leu361Val)
c.1519C>G (p.Leu507Val)
c.1432C>G (p.Leu478Val)
c.1384C>G (p.Leu462Val)
c.1096C>G (p.Leu366Val)
c.1531C>G (p.Leu511Val)
c.1516C>G (p.Leu506Val)
8g.71215642G>TCA371466374EYA1c.1447C>A (p.Leu483Met)
c.1345C>A (p.Leu449Met)
c.1342C>A (p.Leu448Met)
c.*726C>A (n.*726C>A)
c.837C>A
n.1910C>A
c.*1124C>A (n.*1124C>A)
c.1534C>A (p.Leu512Met)
c.1429C>A (p.Leu477Met)
n.517C>A
c.1426C>A (p.Leu476Met)
c.1348C>A (p.Leu450Met)
c.1444C>A (p.Leu482Met)
c.*392C>A (n.*392C>A)
n.1942C>A
c.1081C>A (p.Leu361Met)
c.1519C>A (p.Leu507Met)
c.1432C>A (p.Leu478Met)
c.1384C>A (p.Leu462Met)
c.1096C>A (p.Leu366Met)
c.1531C>A (p.Leu511Met)
c.1516C>A (p.Leu506Met)
 gnomAD v4
8g.71215643G>ACA461325090EYA1c.1446C>T (p.Ala482=)
c.1344C>T (p.Ala448=)
c.1341C>T (p.Ala447=)
c.*725C>T (n.*725C>T)
c.836C>T
n.1909C>T
c.*1123C>T (n.*1123C>T)
c.1533C>T (p.Ala511=)
c.1428C>T (p.Ala476=)
n.516C>T
c.1425C>T (p.Ala475=)
c.1347C>T (p.Ala449=)
c.1443C>T (p.Ala481=)
c.*391C>T (n.*391C>T)
n.1941C>T
c.1080C>T (p.Ala360=)
c.1518C>T (p.Ala506=)
c.1431C>T (p.Ala477=)
c.1383C>T (p.Ala461=)
c.1095C>T (p.Ala365=)
c.1530C>T (p.Ala510=)
c.1515C>T (p.Ala505=)
 COSMIC COSMIC
8g.71215643G>CCA461325091EYA1c.1446C>G (p.Ala482=)
c.1344C>G (p.Ala448=)
c.1341C>G (p.Ala447=)
c.*725C>G (n.*725C>G)
c.836C>G
n.1909C>G
c.*1123C>G (n.*1123C>G)
c.1533C>G (p.Ala511=)
c.1428C>G (p.Ala476=)
n.516C>G
c.1425C>G (p.Ala475=)
c.1347C>G (p.Ala449=)
c.1443C>G (p.Ala481=)
c.*391C>G (n.*391C>G)
n.1941C>G
c.1080C>G (p.Ala360=)
c.1518C>G (p.Ala506=)
c.1431C>G (p.Ala477=)
c.1383C>G (p.Ala461=)
c.1095C>G (p.Ala365=)
c.1530C>G (p.Ala510=)
c.1515C>G (p.Ala505=)
8g.71215643G>TCA461325092EYA1c.1446C>A (p.Ala482=)
c.1344C>A (p.Ala448=)
c.1341C>A (p.Ala447=)
c.*725C>A (n.*725C>A)
c.836C>A
n.1909C>A
c.*1123C>A (n.*1123C>A)
c.1533C>A (p.Ala511=)
c.1428C>A (p.Ala476=)
n.516C>A
c.1425C>A (p.Ala475=)
c.1347C>A (p.Ala449=)
c.1443C>A (p.Ala481=)
c.*391C>A (n.*391C>A)
n.1941C>A
c.1080C>A (p.Ala360=)
c.1518C>A (p.Ala506=)
c.1431C>A (p.Ala477=)
c.1383C>A (p.Ala461=)
c.1095C>A (p.Ala365=)
c.1530C>A (p.Ala510=)
c.1515C>A (p.Ala505=)
8g.71215644G>ACA371466377EYA1c.1445C>T (p.Ala482Val)
c.1343C>T (p.Ala448Val)
c.1340C>T (p.Ala447Val)
c.*724C>T (n.*724C>T)
c.835C>T
n.1908C>T
c.*1122C>T (n.*1122C>T)
c.1532C>T (p.Ala511Val)
c.1427C>T (p.Ala476Val)
n.515C>T
c.1424C>T (p.Ala475Val)
c.1346C>T (p.Ala449Val)
c.1442C>T (p.Ala481Val)
c.*390C>T (n.*390C>T)
n.1940C>T
c.1079C>T (p.Ala360Val)
c.1517C>T (p.Ala506Val)
c.1430C>T (p.Ala477Val)
c.1382C>T (p.Ala461Val)
c.1094C>T (p.Ala365Val)
c.1529C>T (p.Ala510Val)
c.1514C>T (p.Ala505Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
8g.71215644G>CCA371466376EYA1c.1445C>G (p.Ala482Gly)
c.1343C>G (p.Ala448Gly)
c.1340C>G (p.Ala447Gly)
c.*724C>G (n.*724C>G)
c.835C>G
n.1908C>G
c.*1122C>G (n.*1122C>G)
c.1532C>G (p.Ala511Gly)
c.1427C>G (p.Ala476Gly)
n.515C>G
c.1424C>G (p.Ala475Gly)
c.1346C>G (p.Ala449Gly)
c.1442C>G (p.Ala481Gly)
c.*390C>G (n.*390C>G)
n.1940C>G
c.1079C>G (p.Ala360Gly)
c.1517C>G (p.Ala506Gly)
c.1430C>G (p.Ala477Gly)
c.1382C>G (p.Ala461Gly)
c.1094C>G (p.Ala365Gly)
c.1529C>G (p.Ala510Gly)
c.1514C>G (p.Ala505Gly)
8g.71215644G=CA1792691802EYA1c.1445C= (p.Ala482=)
c.1343C= (p.Ala448=)
c.1340C= (p.Ala447=)
c.*724C= (n.*724C=)
c.835C=
n.1908C=
c.*1122C= (n.*1122C=)
c.1532C= (p.Ala511=)
c.1427C= (p.Ala476=)
n.515C=
c.1424C= (p.Ala475=)
c.1346C= (p.Ala449=)
c.1442C= (p.Ala481=)
c.*390C= (n.*390C=)
n.1940C=
c.1079C= (p.Ala360=)
c.1517C= (p.Ala506=)
c.1430C= (p.Ala477=)
c.1382C= (p.Ala461=)
c.1094C= (p.Ala365=)
c.1529C= (p.Ala510=)
c.1514C= (p.Ala505=)
8g.71215644G>TCA371466375EYA1c.1445C>A (p.Ala482Asp)
c.1343C>A (p.Ala448Asp)
c.1340C>A (p.Ala447Asp)
c.*724C>A (n.*724C>A)
c.835C>A
n.1908C>A
c.*1122C>A (n.*1122C>A)
c.1532C>A (p.Ala511Asp)
c.1427C>A (p.Ala476Asp)
n.515C>A
c.1424C>A (p.Ala475Asp)
c.1346C>A (p.Ala449Asp)
c.1442C>A (p.Ala481Asp)
c.*390C>A (n.*390C>A)
n.1940C>A
c.1079C>A (p.Ala360Asp)
c.1517C>A (p.Ala506Asp)
c.1430C>A (p.Ala477Asp)
c.1382C>A (p.Ala461Asp)
c.1094C>A (p.Ala365Asp)
c.1529C>A (p.Ala510Asp)
c.1514C>A (p.Ala505Asp)
8g.71215645C>ACA371466380EYA1c.1444G>T (p.Ala482Ser)
c.1342G>T (p.Ala448Ser)
c.1339G>T (p.Ala447Ser)
c.*723G>T (n.*723G>T)
c.834G>T
n.1907G>T
c.*1121G>T (n.*1121G>T)
c.1531G>T (p.Ala511Ser)
c.1426G>T (p.Ala476Ser)
n.514G>T
c.1423G>T (p.Ala475Ser)
c.1345G>T (p.Ala449Ser)
c.1441G>T (p.Ala481Ser)
c.*389G>T (n.*389G>T)
n.1939G>T
c.1078G>T (p.Ala360Ser)
c.1516G>T (p.Ala506Ser)
c.1429G>T (p.Ala477Ser)
c.1381G>T (p.Ala461Ser)
c.1093G>T (p.Ala365Ser)
c.1528G>T (p.Ala510Ser)
c.1513G>T (p.Ala505Ser)
 gnomAD v4
8g.71215645C>GCA371466378EYA1c.1444G>C (p.Ala482Pro)
c.1342G>C (p.Ala448Pro)
c.1339G>C (p.Ala447Pro)
c.*723G>C (n.*723G>C)
c.834G>C
n.1907G>C
c.*1121G>C (n.*1121G>C)
c.1531G>C (p.Ala511Pro)
c.1426G>C (p.Ala476Pro)
n.514G>C
c.1423G>C (p.Ala475Pro)
c.1345G>C (p.Ala449Pro)
c.1441G>C (p.Ala481Pro)
c.*389G>C (n.*389G>C)
n.1939G>C
c.1078G>C (p.Ala360Pro)
c.1516G>C (p.Ala506Pro)
c.1429G>C (p.Ala477Pro)
c.1381G>C (p.Ala461Pro)
c.1093G>C (p.Ala365Pro)
c.1528G>C (p.Ala510Pro)
c.1513G>C (p.Ala505Pro)
8g.71215645C>TCA371466379EYA1c.1444G>A (p.Ala482Thr)
c.1342G>A (p.Ala448Thr)
c.1339G>A (p.Ala447Thr)
c.*723G>A (n.*723G>A)
c.834G>A
n.1907G>A
c.*1121G>A (n.*1121G>A)
c.1531G>A (p.Ala511Thr)
c.1426G>A (p.Ala476Thr)
n.514G>A
c.1423G>A (p.Ala475Thr)
c.1345G>A (p.Ala449Thr)
c.1441G>A (p.Ala481Thr)
c.*389G>A (n.*389G>A)
n.1939G>A
c.1078G>A (p.Ala360Thr)
c.1516G>A (p.Ala506Thr)
c.1429G>A (p.Ala477Thr)
c.1381G>A (p.Ala461Thr)
c.1093G>A (p.Ala365Thr)
c.1528G>A (p.Ala510Thr)
c.1513G>A (p.Ala505Thr)
 gnomAD v4
8g.71215646C>ACA461325093EYA1c.1443G>T (p.Leu481=)
c.1341G>T (p.Leu447=)
c.1338G>T (p.Leu446=)
c.*722G>T (n.*722G>T)
c.833G>T
n.1906G>T
c.*1120G>T (n.*1120G>T)
c.1530G>T (p.Leu510=)
c.1425G>T (p.Leu475=)
n.513G>T
c.1422G>T (p.Leu474=)
c.1344G>T (p.Leu448=)
c.1440G>T (p.Leu480=)
c.*388G>T (n.*388G>T)
n.1938G>T
c.1077G>T (p.Leu359=)
c.1515G>T (p.Leu505=)
c.1428G>T (p.Leu476=)
c.1380G>T (p.Leu460=)
c.1092G>T (p.Leu364=)
c.1527G>T (p.Leu509=)
c.1512G>T (p.Leu504=)
8g.71215646C>GCA461325094EYA1c.1443G>C (p.Leu481=)
c.1341G>C (p.Leu447=)
c.1338G>C (p.Leu446=)
c.*722G>C (n.*722G>C)
c.833G>C
n.1906G>C
c.*1120G>C (n.*1120G>C)
c.1530G>C (p.Leu510=)
c.1425G>C (p.Leu475=)
n.513G>C
c.1422G>C (p.Leu474=)
c.1344G>C (p.Leu448=)
c.1440G>C (p.Leu480=)
c.*388G>C (n.*388G>C)
n.1938G>C
c.1077G>C (p.Leu359=)
c.1515G>C (p.Leu505=)
c.1428G>C (p.Leu476=)
c.1380G>C (p.Leu460=)
c.1092G>C (p.Leu364=)
c.1527G>C (p.Leu509=)
c.1512G>C (p.Leu504=)
8g.71215646C>TCA461325095EYA1c.1443G>A (p.Leu481=)
c.1341G>A (p.Leu447=)
c.1338G>A (p.Leu446=)
c.*722G>A (n.*722G>A)
c.833G>A
n.1906G>A
c.*1120G>A (n.*1120G>A)
c.1530G>A (p.Leu510=)
c.1425G>A (p.Leu475=)
n.513G>A
c.1422G>A (p.Leu474=)
c.1344G>A (p.Leu448=)
c.1440G>A (p.Leu480=)
c.*388G>A (n.*388G>A)
n.1938G>A
c.1077G>A (p.Leu359=)
c.1515G>A (p.Leu505=)
c.1428G>A (p.Leu476=)
c.1380G>A (p.Leu460=)
c.1092G>A (p.Leu364=)
c.1527G>A (p.Leu509=)
c.1512G>A (p.Leu504=)
 COSMIC COSMIC
8g.71215647A>CCA371466381EYA1c.1442T>G (p.Leu481Arg)
c.1340T>G (p.Leu447Arg)
c.1337T>G (p.Leu446Arg)
c.*721T>G (n.*721T>G)
c.832T>G
n.1905T>G
c.*1119T>G (n.*1119T>G)
c.1529T>G (p.Leu510Arg)
c.1424T>G (p.Leu475Arg)
n.512T>G
c.1421T>G (p.Leu474Arg)
c.1343T>G (p.Leu448Arg)
c.1439T>G (p.Leu480Arg)
c.*387T>G (n.*387T>G)
n.1937T>G
c.1076T>G (p.Leu359Arg)
c.1514T>G (p.Leu505Arg)
c.1427T>G (p.Leu476Arg)
c.1379T>G (p.Leu460Arg)
c.1091T>G (p.Leu364Arg)
c.1526T>G (p.Leu509Arg)
c.1511T>G (p.Leu504Arg)
8g.71215647A>GCA371466382EYA1c.1442T>C (p.Leu481Pro)
c.1340T>C (p.Leu447Pro)
c.1337T>C (p.Leu446Pro)
c.*721T>C (n.*721T>C)
c.832T>C
n.1905T>C
c.*1119T>C (n.*1119T>C)
c.1529T>C (p.Leu510Pro)
c.1424T>C (p.Leu475Pro)
n.512T>C
c.1421T>C (p.Leu474Pro)
c.1343T>C (p.Leu448Pro)
c.1439T>C (p.Leu480Pro)
c.*387T>C (n.*387T>C)
n.1937T>C
c.1076T>C (p.Leu359Pro)
c.1514T>C (p.Leu505Pro)
c.1427T>C (p.Leu476Pro)
c.1379T>C (p.Leu460Pro)
c.1091T>C (p.Leu364Pro)
c.1526T>C (p.Leu509Pro)
c.1511T>C (p.Leu504Pro)
 gnomAD v4
8g.71215647A>TCA371466383EYA1c.1442T>A (p.Leu481Gln)
c.1340T>A (p.Leu447Gln)
c.1337T>A (p.Leu446Gln)
c.*721T>A (n.*721T>A)
c.832T>A
n.1905T>A
c.*1119T>A (n.*1119T>A)
c.1529T>A (p.Leu510Gln)
c.1424T>A (p.Leu475Gln)
n.512T>A
c.1421T>A (p.Leu474Gln)
c.1343T>A (p.Leu448Gln)
c.1439T>A (p.Leu480Gln)
c.*387T>A (n.*387T>A)
n.1937T>A
c.1076T>A (p.Leu359Gln)
c.1514T>A (p.Leu505Gln)
c.1427T>A (p.Leu476Gln)
c.1379T>A (p.Leu460Gln)
c.1091T>A (p.Leu364Gln)
c.1526T>A (p.Leu509Gln)
c.1511T>A (p.Leu504Gln)
8g.71215648G>ACA179209440EYA1c.1441C>T (p.Leu481=)
c.1339C>T (p.Leu447=)
c.1336C>T (p.Leu446=)
c.*720C>T (n.*720C>T)
c.831C>T
n.1904C>T
c.*1118C>T (n.*1118C>T)
c.1528C>T (p.Leu510=)
c.1423C>T (p.Leu475=)
n.511C>T
c.1420C>T (p.Leu474=)
c.1342C>T (p.Leu448=)
c.1438C>T (p.Leu480=)
c.*386C>T (n.*386C>T)
n.1936C>T
c.1075C>T (p.Leu359=)
c.1513C>T (p.Leu505=)
c.1426C>T (p.Leu476=)
c.1378C>T (p.Leu460=)
c.1090C>T (p.Leu364=)
c.1525C>T (p.Leu509=)
c.1510C>T (p.Leu504=)
 dbSNP COSMIC COSMIC
8g.71215648G>CCA4779465EYA1c.1441C>G (p.Leu481Val)
c.1339C>G (p.Leu447Val)
c.1336C>G (p.Leu446Val)
c.*720C>G (n.*720C>G)
c.831C>G
n.1904C>G
c.*1118C>G (n.*1118C>G)
c.1528C>G (p.Leu510Val)
c.1423C>G (p.Leu475Val)
n.511C>G
c.1420C>G (p.Leu474Val)
c.1342C>G (p.Leu448Val)
c.1438C>G (p.Leu480Val)
c.*386C>G (n.*386C>G)
n.1936C>G
c.1075C>G (p.Leu359Val)
c.1513C>G (p.Leu505Val)
c.1426C>G (p.Leu476Val)
c.1378C>G (p.Leu460Val)
c.1090C>G (p.Leu364Val)
c.1525C>G (p.Leu509Val)
c.1510C>G (p.Leu504Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.71215648G=CA1792691806EYA1c.1441C= (p.Leu481=)
c.1339C= (p.Leu447=)
c.1336C= (p.Leu446=)
c.*720C= (n.*720C=)
c.831C=
n.1904C=
c.*1118C= (n.*1118C=)
c.1528C= (p.Leu510=)
c.1423C= (p.Leu475=)
n.511C=
c.1420C= (p.Leu474=)
c.1342C= (p.Leu448=)
c.1438C= (p.Leu480=)
c.*386C= (n.*386C=)
n.1936C=
c.1075C= (p.Leu359=)
c.1513C= (p.Leu505=)
c.1426C= (p.Leu476=)
c.1378C= (p.Leu460=)
c.1090C= (p.Leu364=)
c.1525C= (p.Leu509=)
c.1510C= (p.Leu504=)
8g.71215648G>TCA371466384EYA1c.1441C>A (p.Leu481Met)
c.1339C>A (p.Leu447Met)
c.1336C>A (p.Leu446Met)
c.*720C>A (n.*720C>A)
c.831C>A
n.1904C>A
c.*1118C>A (n.*1118C>A)
c.1528C>A (p.Leu510Met)
c.1423C>A (p.Leu475Met)
n.511C>A
c.1420C>A (p.Leu474Met)
c.1342C>A (p.Leu448Met)
c.1438C>A (p.Leu480Met)
c.*386C>A (n.*386C>A)
n.1936C>A
c.1075C>A (p.Leu359Met)
c.1513C>A (p.Leu505Met)
c.1426C>A (p.Leu476Met)
c.1378C>A (p.Leu460Met)
c.1090C>A (p.Leu364Met)
c.1525C>A (p.Leu509Met)
c.1510C>A (p.Leu504Met)
8g.71215649T>ACA461325098EYA1c.1440A>T (p.Thr480=)
c.1338A>T (p.Thr446=)
c.1335A>T (p.Thr445=)
c.*719A>T (n.*719A>T)
c.830A>T
n.1903A>T
c.*1117A>T (n.*1117A>T)
c.1527A>T (p.Thr509=)
c.1422A>T (p.Thr474=)
n.510A>T
c.1419A>T (p.Thr473=)
c.1341A>T (p.Thr447=)
c.1437A>T (p.Thr479=)
c.*385A>T (n.*385A>T)
n.1935A>T
c.1074A>T (p.Thr358=)
c.1512A>T (p.Thr504=)
c.1425A>T (p.Thr475=)
c.1377A>T (p.Thr459=)
c.1089A>T (p.Thr363=)
c.1524A>T (p.Thr508=)
c.1509A>T (p.Thr503=)
8g.71215649T>CCA461325097EYA1c.1440A>G (p.Thr480=)
c.1338A>G (p.Thr446=)
c.1335A>G (p.Thr445=)
c.*719A>G (n.*719A>G)
c.830A>G
n.1903A>G
c.*1117A>G (n.*1117A>G)
c.1527A>G (p.Thr509=)
c.1422A>G (p.Thr474=)
n.510A>G
c.1419A>G (p.Thr473=)
c.1341A>G (p.Thr447=)
c.1437A>G (p.Thr479=)
c.*385A>G (n.*385A>G)
n.1935A>G
c.1074A>G (p.Thr358=)
c.1512A>G (p.Thr504=)
c.1425A>G (p.Thr475=)
c.1377A>G (p.Thr459=)
c.1089A>G (p.Thr363=)
c.1524A>G (p.Thr508=)
c.1509A>G (p.Thr503=)
8g.71215649T>GCA461325096EYA1c.1440A>C (p.Thr480=)
c.1338A>C (p.Thr446=)
c.1335A>C (p.Thr445=)
c.*719A>C (n.*719A>C)
c.830A>C
n.1903A>C
c.*1117A>C (n.*1117A>C)
c.1527A>C (p.Thr509=)
c.1422A>C (p.Thr474=)
n.510A>C
c.1419A>C (p.Thr473=)
c.1341A>C (p.Thr447=)
c.1437A>C (p.Thr479=)
c.*385A>C (n.*385A>C)
n.1935A>C
c.1074A>C (p.Thr358=)
c.1512A>C (p.Thr504=)
c.1425A>C (p.Thr475=)
c.1377A>C (p.Thr459=)
c.1089A>C (p.Thr363=)
c.1524A>C (p.Thr508=)
c.1509A>C (p.Thr503=)
8g.71215650G>ACA371466385EYA1c.1439C>T (p.Thr480Ile)
c.1337C>T (p.Thr446Ile)
c.1334C>T (p.Thr445Ile)
c.*718C>T (n.*718C>T)
c.829C>T
n.1902C>T
c.*1116C>T (n.*1116C>T)
c.1526C>T (p.Thr509Ile)
c.1421C>T (p.Thr474Ile)
n.509C>T
c.1418C>T (p.Thr473Ile)
c.1340C>T (p.Thr447Ile)
c.1436C>T (p.Thr479Ile)
c.*384C>T (n.*384C>T)
n.1934C>T
c.1073C>T (p.Thr358Ile)
c.1511C>T (p.Thr504Ile)
c.1424C>T (p.Thr475Ile)
c.1376C>T (p.Thr459Ile)
c.1088C>T (p.Thr363Ile)
c.1523C>T (p.Thr508Ile)
c.1508C>T (p.Thr503Ile)
8g.71215650G>CCA371466386EYA1c.1439C>G (p.Thr480Arg)
c.1337C>G (p.Thr446Arg)
c.1334C>G (p.Thr445Arg)
c.*718C>G (n.*718C>G)
c.829C>G
n.1902C>G
c.*1116C>G (n.*1116C>G)
c.1526C>G (p.Thr509Arg)
c.1421C>G (p.Thr474Arg)
n.509C>G
c.1418C>G (p.Thr473Arg)
c.1340C>G (p.Thr447Arg)
c.1436C>G (p.Thr479Arg)
c.*384C>G (n.*384C>G)
n.1934C>G
c.1073C>G (p.Thr358Arg)
c.1511C>G (p.Thr504Arg)
c.1424C>G (p.Thr475Arg)
c.1376C>G (p.Thr459Arg)
c.1088C>G (p.Thr363Arg)
c.1523C>G (p.Thr508Arg)
c.1508C>G (p.Thr503Arg)
8g.71215650G>TCA371466387EYA1c.1439C>A (p.Thr480Lys)
c.1337C>A (p.Thr446Lys)
c.1334C>A (p.Thr445Lys)
c.*718C>A (n.*718C>A)
c.829C>A
n.1902C>A
c.*1116C>A (n.*1116C>A)
c.1526C>A (p.Thr509Lys)
c.1421C>A (p.Thr474Lys)
n.509C>A
c.1418C>A (p.Thr473Lys)
c.1340C>A (p.Thr447Lys)
c.1436C>A (p.Thr479Lys)
c.*384C>A (n.*384C>A)
n.1934C>A
c.1073C>A (p.Thr358Lys)
c.1511C>A (p.Thr504Lys)
c.1424C>A (p.Thr475Lys)
c.1376C>A (p.Thr459Lys)
c.1088C>A (p.Thr363Lys)
c.1523C>A (p.Thr508Lys)
c.1508C>A (p.Thr503Lys)
8g.71215651T>ACA371466388EYA1c.1438A>T (p.Thr480Ser)
c.1336A>T (p.Thr446Ser)
c.1333A>T (p.Thr445Ser)
c.*717A>T (n.*717A>T)
c.828A>T
n.1901A>T
c.*1115A>T (n.*1115A>T)
c.1525A>T (p.Thr509Ser)
c.1420A>T (p.Thr474Ser)
n.508A>T
c.1417A>T (p.Thr473Ser)
c.1339A>T (p.Thr447Ser)
c.1435A>T (p.Thr479Ser)
c.*383A>T (n.*383A>T)
n.1933A>T
c.1072A>T (p.Thr358Ser)
c.1510A>T (p.Thr504Ser)
c.1423A>T (p.Thr475Ser)
c.1375A>T (p.Thr459Ser)
c.1087A>T (p.Thr363Ser)
c.1522A>T (p.Thr508Ser)
c.1507A>T (p.Thr503Ser)
8g.71215651T>CCA371466389EYA1c.1438A>G (p.Thr480Ala)
c.1336A>G (p.Thr446Ala)
c.1333A>G (p.Thr445Ala)
c.*717A>G (n.*717A>G)
c.828A>G
n.1901A>G
c.*1115A>G (n.*1115A>G)
c.1525A>G (p.Thr509Ala)
c.1420A>G (p.Thr474Ala)
n.508A>G
c.1417A>G (p.Thr473Ala)
c.1339A>G (p.Thr447Ala)
c.1435A>G (p.Thr479Ala)
c.*383A>G (n.*383A>G)
n.1933A>G
c.1072A>G (p.Thr358Ala)
c.1510A>G (p.Thr504Ala)
c.1423A>G (p.Thr475Ala)
c.1375A>G (p.Thr459Ala)
c.1087A>G (p.Thr363Ala)
c.1522A>G (p.Thr508Ala)
c.1507A>G (p.Thr503Ala)
8g.71215651T>GCA371466390EYA1c.1438A>C (p.Thr480Pro)
c.1336A>C (p.Thr446Pro)
c.1333A>C (p.Thr445Pro)
c.*717A>C (n.*717A>C)
c.828A>C
n.1901A>C
c.*1115A>C (n.*1115A>C)
c.1525A>C (p.Thr509Pro)
c.1420A>C (p.Thr474Pro)
n.508A>C
c.1417A>C (p.Thr473Pro)
c.1339A>C (p.Thr447Pro)
c.1435A>C (p.Thr479Pro)
c.*383A>C (n.*383A>C)
n.1933A>C
c.1072A>C (p.Thr358Pro)
c.1510A>C (p.Thr504Pro)
c.1423A>C (p.Thr475Pro)
c.1375A>C (p.Thr459Pro)
c.1087A>C (p.Thr363Pro)
c.1522A>C (p.Thr508Pro)
c.1507A>C (p.Thr503Pro)
8g.71215652C>ACA371466392EYA1c.1437G>T (p.Leu479Phe)
c.1335G>T (p.Leu445Phe)
c.1332G>T (p.Leu444Phe)
c.*716G>T (n.*716G>T)
c.827G>T
n.1900G>T
c.*1114G>T (n.*1114G>T)
c.1524G>T (p.Leu508Phe)
c.1419G>T (p.Leu473Phe)
n.507G>T
c.1416G>T (p.Leu472Phe)
c.1338G>T (p.Leu446Phe)
c.1434G>T (p.Leu478Phe)
c.*382G>T (n.*382G>T)
n.1932G>T
c.1071G>T (p.Leu357Phe)
c.1509G>T (p.Leu503Phe)
c.1422G>T (p.Leu474Phe)
c.1374G>T (p.Leu458Phe)
c.1086G>T (p.Leu362Phe)
c.1521G>T (p.Leu507Phe)
c.1506G>T (p.Leu502Phe)
8g.71215652C=CA1792691812EYA1c.1437G= (p.Leu479=)
c.1335G= (p.Leu445=)
c.1332G= (p.Leu444=)
c.*716G= (n.*716G=)
c.827G=
n.1900G=
c.*1114G= (n.*1114G=)
c.1524G= (p.Leu508=)
c.1419G= (p.Leu473=)
n.507G=
c.1416G= (p.Leu472=)
c.1338G= (p.Leu446=)
c.1434G= (p.Leu478=)
c.*382G= (n.*382G=)
n.1932G=
c.1071G= (p.Leu357=)
c.1509G= (p.Leu503=)
c.1422G= (p.Leu474=)
c.1374G= (p.Leu458=)
c.1086G= (p.Leu362=)
c.1521G= (p.Leu507=)
c.1506G= (p.Leu502=)
8g.71215652C>GCA371466391EYA1c.1437G>C (p.Leu479Phe)
c.1335G>C (p.Leu445Phe)
c.1332G>C (p.Leu444Phe)
c.*716G>C (n.*716G>C)
c.827G>C
n.1900G>C
c.*1114G>C (n.*1114G>C)
c.1524G>C (p.Leu508Phe)
c.1419G>C (p.Leu473Phe)
n.507G>C
c.1416G>C (p.Leu472Phe)
c.1338G>C (p.Leu446Phe)
c.1434G>C (p.Leu478Phe)
c.*382G>C (n.*382G>C)
n.1932G>C
c.1071G>C (p.Leu357Phe)
c.1509G>C (p.Leu503Phe)
c.1422G>C (p.Leu474Phe)
c.1374G>C (p.Leu458Phe)
c.1086G>C (p.Leu362Phe)
c.1521G>C (p.Leu507Phe)
c.1506G>C (p.Leu502Phe)
 dbSNP
8g.71215652C>TCA461325099EYA1c.1437G>A (p.Leu479=)
c.1335G>A (p.Leu445=)
c.1332G>A (p.Leu444=)
c.*716G>A (n.*716G>A)
c.827G>A
n.1900G>A
c.*1114G>A (n.*1114G>A)
c.1524G>A (p.Leu508=)
c.1419G>A (p.Leu473=)
n.507G>A
c.1416G>A (p.Leu472=)
c.1338G>A (p.Leu446=)
c.1434G>A (p.Leu478=)
c.*382G>A (n.*382G>A)
n.1932G>A
c.1071G>A (p.Leu357=)
c.1509G>A (p.Leu503=)
c.1422G>A (p.Leu474=)
c.1374G>A (p.Leu458=)
c.1086G>A (p.Leu362=)
c.1521G>A (p.Leu507=)
c.1506G>A (p.Leu502=)
8g.71215653A>CCA371466393EYA1c.1436T>G (p.Leu479Trp)
c.1334T>G (p.Leu445Trp)
c.1331T>G (p.Leu444Trp)
c.*715T>G (n.*715T>G)
c.826T>G
n.1899T>G
c.*1113T>G (n.*1113T>G)
c.1523T>G (p.Leu508Trp)
c.1418T>G (p.Leu473Trp)
n.506T>G
c.1415T>G (p.Leu472Trp)
c.1337T>G (p.Leu446Trp)
c.1433T>G (p.Leu478Trp)
c.*381T>G (n.*381T>G)
n.1931T>G
c.1070T>G (p.Leu357Trp)
c.1508T>G (p.Leu503Trp)
c.1421T>G (p.Leu474Trp)
c.1373T>G (p.Leu458Trp)
c.1085T>G (p.Leu362Trp)
c.1520T>G (p.Leu507Trp)
c.1505T>G (p.Leu502Trp)
8g.71215653A>GCA371466394EYA1c.1436T>C (p.Leu479Ser)
c.1334T>C (p.Leu445Ser)
c.1331T>C (p.Leu444Ser)
c.*715T>C (n.*715T>C)
c.826T>C
n.1899T>C
c.*1113T>C (n.*1113T>C)
c.1523T>C (p.Leu508Ser)
c.1418T>C (p.Leu473Ser)
n.506T>C
c.1415T>C (p.Leu472Ser)
c.1337T>C (p.Leu446Ser)
c.1433T>C (p.Leu478Ser)
c.*381T>C (n.*381T>C)
n.1931T>C
c.1070T>C (p.Leu357Ser)
c.1508T>C (p.Leu503Ser)
c.1421T>C (p.Leu474Ser)
c.1373T>C (p.Leu458Ser)
c.1085T>C (p.Leu362Ser)
c.1520T>C (p.Leu507Ser)
c.1505T>C (p.Leu502Ser)
8g.71215653A>TCA371466395EYA1c.1436T>A (p.Leu479Ter)
c.1334T>A (p.Leu445Ter)
c.1331T>A (p.Leu444Ter)
c.*715T>A (n.*715T>A)
c.826T>A
n.1899T>A
c.*1113T>A (n.*1113T>A)
c.1523T>A (p.Leu508Ter)
c.1418T>A (p.Leu473Ter)
n.506T>A
c.1415T>A (p.Leu472Ter)
c.1337T>A (p.Leu446Ter)
c.1433T>A (p.Leu478Ter)
c.*381T>A (n.*381T>A)
n.1931T>A
c.1070T>A (p.Leu357Ter)
c.1508T>A (p.Leu503Ter)
c.1421T>A (p.Leu474Ter)
c.1373T>A (p.Leu458Ter)
c.1085T>A (p.Leu362Ter)
c.1520T>A (p.Leu507Ter)
c.1505T>A (p.Leu502Ter)
8g.71215654A=CA1792691816EYA1c.1435T= (p.Leu479=)
c.1333T= (p.Leu445=)
c.1330T= (p.Leu444=)
c.*714T= (n.*714T=)
c.825T=
n.1898T=
c.*1112T= (n.*1112T=)
c.1522T= (p.Leu508=)
c.1417T= (p.Leu473=)
n.505T=
c.1414T= (p.Leu472=)
c.1336T= (p.Leu446=)
c.1432T= (p.Leu478=)
c.*380T= (n.*380T=)
n.1930T=
c.1069T= (p.Leu357=)
c.1507T= (p.Leu503=)
c.1420T= (p.Leu474=)
c.1372T= (p.Leu458=)
c.1084T= (p.Leu362=)
c.1519T= (p.Leu507=)
c.1504T= (p.Leu502=)
8g.71215654A>CCA4779466EYA1c.1435T>G (p.Leu479Val)
c.1333T>G (p.Leu445Val)
c.1330T>G (p.Leu444Val)
c.*714T>G (n.*714T>G)
c.825T>G
n.1898T>G
c.*1112T>G (n.*1112T>G)
c.1522T>G (p.Leu508Val)
c.1417T>G (p.Leu473Val)
n.505T>G
c.1414T>G (p.Leu472Val)
c.1336T>G (p.Leu446Val)
c.1432T>G (p.Leu478Val)
c.*380T>G (n.*380T>G)
n.1930T>G
c.1069T>G (p.Leu357Val)
c.1507T>G (p.Leu503Val)
c.1420T>G (p.Leu474Val)
c.1372T>G (p.Leu458Val)
c.1084T>G (p.Leu362Val)
c.1519T>G (p.Leu507Val)
c.1504T>G (p.Leu502Val)
 dbSNP ExAC
8g.71215654A>GCA461325100EYA1c.1435T>C (p.Leu479=)
c.1333T>C (p.Leu445=)
c.1330T>C (p.Leu444=)
c.*714T>C (n.*714T>C)
c.825T>C
n.1898T>C
c.*1112T>C (n.*1112T>C)
c.1522T>C (p.Leu508=)
c.1417T>C (p.Leu473=)
n.505T>C
c.1414T>C (p.Leu472=)
c.1336T>C (p.Leu446=)
c.1432T>C (p.Leu478=)
c.*380T>C (n.*380T>C)
n.1930T>C
c.1069T>C (p.Leu357=)
c.1507T>C (p.Leu503=)
c.1420T>C (p.Leu474=)
c.1372T>C (p.Leu458=)
c.1084T>C (p.Leu362=)
c.1519T>C (p.Leu507=)
c.1504T>C (p.Leu502=)
8g.71215654A>TCA371466396EYA1c.1435T>A (p.Leu479Met)
c.1333T>A (p.Leu445Met)
c.1330T>A (p.Leu444Met)
c.*714T>A (n.*714T>A)
c.825T>A
n.1898T>A
c.*1112T>A (n.*1112T>A)
c.1522T>A (p.Leu508Met)
c.1417T>A (p.Leu473Met)
n.505T>A
c.1414T>A (p.Leu472Met)
c.1336T>A (p.Leu446Met)
c.1432T>A (p.Leu478Met)
c.*380T>A (n.*380T>A)
n.1930T>A
c.1069T>A (p.Leu357Met)
c.1507T>A (p.Leu503Met)
c.1420T>A (p.Leu474Met)
c.1372T>A (p.Leu458Met)
c.1084T>A (p.Leu362Met)
c.1519T>A (p.Leu507Met)
c.1504T>A (p.Leu502Met)
8g.71215655C>ACA371466397EYA1c.1434G>T (p.Trp478Cys)
c.1332G>T (p.Trp444Cys)
c.1329G>T (p.Trp443Cys)
c.*713G>T (n.*713G>T)
c.824G>T
n.1897G>T
c.*1111G>T (n.*1111G>T)
c.1521G>T (p.Trp507Cys)
c.1416G>T (p.Trp472Cys)
n.504G>T
c.1413G>T (p.Trp471Cys)
c.1335G>T (p.Trp445Cys)
c.1431G>T (p.Trp477Cys)
c.*379G>T (n.*379G>T)
n.1929G>T
c.1068G>T (p.Trp356Cys)
c.1506G>T (p.Trp502Cys)
c.1419G>T (p.Trp473Cys)
c.1371G>T (p.Trp457Cys)
c.1083G>T (p.Trp361Cys)
c.1518G>T (p.Trp506Cys)
c.1503G>T (p.Trp501Cys)
 COSMIC
8g.71215655C>GCA371466398EYA1c.1434G>C (p.Trp478Cys)
c.1332G>C (p.Trp444Cys)
c.1329G>C (p.Trp443Cys)
c.*713G>C (n.*713G>C)
c.824G>C
n.1897G>C
c.*1111G>C (n.*1111G>C)
c.1521G>C (p.Trp507Cys)
c.1416G>C (p.Trp472Cys)
n.504G>C
c.1413G>C (p.Trp471Cys)
c.1335G>C (p.Trp445Cys)
c.1431G>C (p.Trp477Cys)
c.*379G>C (n.*379G>C)
n.1929G>C
c.1068G>C (p.Trp356Cys)
c.1506G>C (p.Trp502Cys)
c.1419G>C (p.Trp473Cys)
c.1371G>C (p.Trp457Cys)
c.1083G>C (p.Trp361Cys)
c.1518G>C (p.Trp506Cys)
c.1503G>C (p.Trp501Cys)
8g.71215655C>TCA371466399EYA1c.1434G>A (p.Trp478Ter)
c.1332G>A (p.Trp444Ter)
c.1329G>A (p.Trp443Ter)
c.*713G>A (n.*713G>A)
c.824G>A
n.1897G>A
c.*1111G>A (n.*1111G>A)
c.1521G>A (p.Trp507Ter)
c.1416G>A (p.Trp472Ter)
n.504G>A
c.1413G>A (p.Trp471Ter)
c.1335G>A (p.Trp445Ter)
c.1431G>A (p.Trp477Ter)
c.*379G>A (n.*379G>A)
n.1929G>A
c.1068G>A (p.Trp356Ter)
c.1506G>A (p.Trp502Ter)
c.1419G>A (p.Trp473Ter)
c.1371G>A (p.Trp457Ter)
c.1083G>A (p.Trp361Ter)
c.1518G>A (p.Trp506Ter)
c.1503G>A (p.Trp501Ter)
8g.71215656C>ACA371466400EYA1c.1433G>T (p.Trp478Leu)
c.1331G>T (p.Trp444Leu)
c.1328G>T (p.Trp443Leu)
c.*712G>T (n.*712G>T)
c.823G>T
n.1896G>T
c.*1110G>T (n.*1110G>T)
c.1520G>T (p.Trp507Leu)
c.1415G>T (p.Trp472Leu)
n.503G>T
c.1412G>T (p.Trp471Leu)
c.1334G>T (p.Trp445Leu)
c.1430G>T (p.Trp477Leu)
c.*378G>T (n.*378G>T)
n.1928G>T
c.1067G>T (p.Trp356Leu)
c.1505G>T (p.Trp502Leu)
c.1418G>T (p.Trp473Leu)
c.1370G>T (p.Trp457Leu)
c.1082G>T (p.Trp361Leu)
c.1517G>T (p.Trp506Leu)
c.1502G>T (p.Trp501Leu)
 dbSNP gnomAD v2 gnomAD v4
8g.71215656C=CA1792691823EYA1c.1433G= (p.Trp478=)
c.1331G= (p.Trp444=)
c.1328G= (p.Trp443=)
c.*712G= (n.*712G=)
c.823G=
n.1896G=
c.*1110G= (n.*1110G=)
c.1520G= (p.Trp507=)
c.1415G= (p.Trp472=)
n.503G=
c.1412G= (p.Trp471=)
c.1334G= (p.Trp445=)
c.1430G= (p.Trp477=)
c.*378G= (n.*378G=)
n.1928G=
c.1067G= (p.Trp356=)
c.1505G= (p.Trp502=)
c.1418G= (p.Trp473=)
c.1370G= (p.Trp457=)
c.1082G= (p.Trp361=)
c.1517G= (p.Trp506=)
c.1502G= (p.Trp501=)
8g.71215656C>GCA371466401EYA1c.1433G>C (p.Trp478Ser)
c.1331G>C (p.Trp444Ser)
c.1328G>C (p.Trp443Ser)
c.*712G>C (n.*712G>C)
c.823G>C
n.1896G>C
c.*1110G>C (n.*1110G>C)
c.1520G>C (p.Trp507Ser)
c.1415G>C (p.Trp472Ser)
n.503G>C
c.1412G>C (p.Trp471Ser)
c.1334G>C (p.Trp445Ser)
c.1430G>C (p.Trp477Ser)
c.*378G>C (n.*378G>C)
n.1928G>C
c.1067G>C (p.Trp356Ser)
c.1505G>C (p.Trp502Ser)
c.1418G>C (p.Trp473Ser)
c.1370G>C (p.Trp457Ser)
c.1082G>C (p.Trp361Ser)
c.1517G>C (p.Trp506Ser)
c.1502G>C (p.Trp501Ser)
 gnomAD v4
8g.71215656C>TCA371466402EYA1c.1433G>A (p.Trp478Ter)
c.1331G>A (p.Trp444Ter)
c.1328G>A (p.Trp443Ter)
c.*712G>A (n.*712G>A)
c.823G>A
n.1896G>A
c.*1110G>A (n.*1110G>A)
c.1520G>A (p.Trp507Ter)
c.1415G>A (p.Trp472Ter)
n.503G>A
c.1412G>A (p.Trp471Ter)
c.1334G>A (p.Trp445Ter)
c.1430G>A (p.Trp477Ter)
c.*378G>A (n.*378G>A)
n.1928G>A
c.1067G>A (p.Trp356Ter)
c.1505G>A (p.Trp502Ter)
c.1418G>A (p.Trp473Ter)
c.1370G>A (p.Trp457Ter)
c.1082G>A (p.Trp361Ter)
c.1517G>A (p.Trp506Ter)
c.1502G>A (p.Trp501Ter)
 ClinVar dbSNP
8g.71215657A>CCA371466403EYA1c.1432T>G (p.Trp478Gly)
c.1330T>G (p.Trp444Gly)
c.1327T>G (p.Trp443Gly)
c.*711T>G (n.*711T>G)
c.822T>G
n.1895T>G
c.*1109T>G (n.*1109T>G)
c.1519T>G (p.Trp507Gly)
c.1414T>G (p.Trp472Gly)
n.502T>G
c.1411T>G (p.Trp471Gly)
c.1333T>G (p.Trp445Gly)
c.1429T>G (p.Trp477Gly)
c.*377T>G (n.*377T>G)
n.1927T>G
c.1066T>G (p.Trp356Gly)
c.1504T>G (p.Trp502Gly)
c.1417T>G (p.Trp473Gly)
c.1369T>G (p.Trp457Gly)
c.1081T>G (p.Trp361Gly)
c.1516T>G (p.Trp506Gly)
c.1501T>G (p.Trp501Gly)
8g.71215657A>GCA371466404EYA1c.1432T>C (p.Trp478Arg)
c.1330T>C (p.Trp444Arg)
c.1327T>C (p.Trp443Arg)
c.*711T>C (n.*711T>C)
c.822T>C
n.1895T>C
c.*1109T>C (n.*1109T>C)
c.1519T>C (p.Trp507Arg)
c.1414T>C (p.Trp472Arg)
n.502T>C
c.1411T>C (p.Trp471Arg)
c.1333T>C (p.Trp445Arg)
c.1429T>C (p.Trp477Arg)
c.*377T>C (n.*377T>C)
n.1927T>C
c.1066T>C (p.Trp356Arg)
c.1504T>C (p.Trp502Arg)
c.1417T>C (p.Trp473Arg)
c.1369T>C (p.Trp457Arg)
c.1081T>C (p.Trp361Arg)
c.1516T>C (p.Trp506Arg)
c.1501T>C (p.Trp501Arg)
8g.71215657A>TCA371466405EYA1c.1432T>A (p.Trp478Arg)
c.1330T>A (p.Trp444Arg)
c.1327T>A (p.Trp443Arg)
c.*711T>A (n.*711T>A)
c.822T>A
n.1895T>A
c.*1109T>A (n.*1109T>A)
c.1519T>A (p.Trp507Arg)
c.1414T>A (p.Trp472Arg)
n.502T>A
c.1411T>A (p.Trp471Arg)
c.1333T>A (p.Trp445Arg)
c.1429T>A (p.Trp477Arg)
c.*377T>A (n.*377T>A)
n.1927T>A
c.1066T>A (p.Trp356Arg)
c.1504T>A (p.Trp502Arg)
c.1417T>A (p.Trp473Arg)
c.1369T>A (p.Trp457Arg)
c.1081T>A (p.Trp361Arg)
c.1516T>A (p.Trp506Arg)
c.1501T>A (p.Trp501Arg)
8g.71215658G>ACA461325101EYA1c.1431C>T (p.Ser477=)
c.1329C>T (p.Ser443=)
c.1326C>T (p.Ser442=)
c.*710C>T (n.*710C>T)
c.821C>T
n.1894C>T
c.*1108C>T (n.*1108C>T)
c.1518C>T (p.Ser506=)
c.1413C>T (p.Ser471=)
n.501C>T
c.1410C>T (p.Ser470=)
c.1332C>T (p.Ser444=)
c.1428C>T (p.Ser476=)
c.*376C>T (n.*376C>T)
n.1926C>T
c.1065C>T (p.Ser355=)
c.1503C>T (p.Ser501=)
c.1416C>T (p.Ser472=)
c.1368C>T (p.Ser456=)
c.1080C>T (p.Ser360=)
c.1515C>T (p.Ser505=)
c.1500C>T (p.Ser500=)
8g.71215658G>CCA461325102EYA1c.1431C>G (p.Ser477=)
c.1329C>G (p.Ser443=)
c.1326C>G (p.Ser442=)
c.*710C>G (n.*710C>G)
c.821C>G
n.1894C>G
c.*1108C>G (n.*1108C>G)
c.1518C>G (p.Ser506=)
c.1413C>G (p.Ser471=)
n.501C>G
c.1410C>G (p.Ser470=)
c.1332C>G (p.Ser444=)
c.1428C>G (p.Ser476=)
c.*376C>G (n.*376C>G)
n.1926C>G
c.1065C>G (p.Ser355=)
c.1503C>G (p.Ser501=)
c.1416C>G (p.Ser472=)
c.1368C>G (p.Ser456=)
c.1080C>G (p.Ser360=)
c.1515C>G (p.Ser505=)
c.1500C>G (p.Ser500=)
8g.71215658G>TCA461325103EYA1c.1431C>A (p.Ser477=)
c.1329C>A (p.Ser443=)
c.1326C>A (p.Ser442=)
c.*710C>A (n.*710C>A)
c.821C>A
n.1894C>A
c.*1108C>A (n.*1108C>A)
c.1518C>A (p.Ser506=)
c.1413C>A (p.Ser471=)
n.501C>A
c.1410C>A (p.Ser470=)
c.1332C>A (p.Ser444=)
c.1428C>A (p.Ser476=)
c.*376C>A (n.*376C>A)
n.1926C>A
c.1065C>A (p.Ser355=)
c.1503C>A (p.Ser501=)
c.1416C>A (p.Ser472=)
c.1368C>A (p.Ser456=)
c.1080C>A (p.Ser360=)
c.1515C>A (p.Ser505=)
c.1500C>A (p.Ser500=)
8g.71215659G>ACA371466407EYA1c.1430C>T (p.Ser477Phe)
c.1328C>T (p.Ser443Phe)
c.1325C>T (p.Ser442Phe)
c.*709C>T (n.*709C>T)
c.820C>T
n.1893C>T
c.*1107C>T (n.*1107C>T)
c.1517C>T (p.Ser506Phe)
c.1412C>T (p.Ser471Phe)
n.500C>T
c.1409C>T (p.Ser470Phe)
c.1331C>T (p.Ser444Phe)
c.1427C>T (p.Ser476Phe)
c.*375C>T (n.*375C>T)
n.1925C>T
c.1064C>T (p.Ser355Phe)
c.1502C>T (p.Ser501Phe)
c.1415C>T (p.Ser472Phe)
c.1367C>T (p.Ser456Phe)
c.1079C>T (p.Ser360Phe)
c.1514C>T (p.Ser505Phe)
c.1499C>T (p.Ser500Phe)
8g.71215659G>CCA4779467EYA1c.1430C>G (p.Ser477Cys)
c.1328C>G (p.Ser443Cys)
c.1325C>G (p.Ser442Cys)
c.*709C>G (n.*709C>G)
c.820C>G
n.1893C>G
c.*1107C>G (n.*1107C>G)
c.1517C>G (p.Ser506Cys)
c.1412C>G (p.Ser471Cys)
n.500C>G
c.1409C>G (p.Ser470Cys)
c.1331C>G (p.Ser444Cys)
c.1427C>G (p.Ser476Cys)
c.*375C>G (n.*375C>G)
n.1925C>G
c.1064C>G (p.Ser355Cys)
c.1502C>G (p.Ser501Cys)
c.1415C>G (p.Ser472Cys)
c.1367C>G (p.Ser456Cys)
c.1079C>G (p.Ser360Cys)
c.1514C>G (p.Ser505Cys)
c.1499C>G (p.Ser500Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.71215659G=CA1792691826EYA1c.1430C= (p.Ser477=)
c.1328C= (p.Ser443=)
c.1325C= (p.Ser442=)
c.*709C= (n.*709C=)
c.820C=
n.1893C=
c.*1107C= (n.*1107C=)
c.1517C= (p.Ser506=)
c.1412C= (p.Ser471=)
n.500C=
c.1409C= (p.Ser470=)
c.1331C= (p.Ser444=)
c.1427C= (p.Ser476=)
c.*375C= (n.*375C=)
n.1925C=
c.1064C= (p.Ser355=)
c.1502C= (p.Ser501=)
c.1415C= (p.Ser472=)
c.1367C= (p.Ser456=)
c.1079C= (p.Ser360=)
c.1514C= (p.Ser505=)
c.1499C= (p.Ser500=)
8g.71215659G>TCA371466406EYA1c.1430C>A (p.Ser477Tyr)
c.1328C>A (p.Ser443Tyr)
c.1325C>A (p.Ser442Tyr)
c.*709C>A (n.*709C>A)
c.820C>A
n.1893C>A
c.*1107C>A (n.*1107C>A)
c.1517C>A (p.Ser506Tyr)
c.1412C>A (p.Ser471Tyr)
n.500C>A
c.1409C>A (p.Ser470Tyr)
c.1331C>A (p.Ser444Tyr)
c.1427C>A (p.Ser476Tyr)
c.*375C>A (n.*375C>A)
n.1925C>A
c.1064C>A (p.Ser355Tyr)
c.1502C>A (p.Ser501Tyr)
c.1415C>A (p.Ser472Tyr)
c.1367C>A (p.Ser456Tyr)
c.1079C>A (p.Ser360Tyr)
c.1514C>A (p.Ser505Tyr)
c.1499C>A (p.Ser500Tyr)
8g.71215660A>CCA371466408EYA1c.1429T>G (p.Ser477Ala)
c.1327T>G (p.Ser443Ala)
c.1324T>G (p.Ser442Ala)
c.*708T>G (n.*708T>G)
c.819T>G
n.1892T>G
c.*1106T>G (n.*1106T>G)
c.1516T>G (p.Ser506Ala)
c.1411T>G (p.Ser471Ala)
n.499T>G
c.1408T>G (p.Ser470Ala)
c.1330T>G (p.Ser444Ala)
c.1426T>G (p.Ser476Ala)
c.*374T>G (n.*374T>G)
n.1924T>G
c.1063T>G (p.Ser355Ala)
c.1501T>G (p.Ser501Ala)
c.1414T>G (p.Ser472Ala)
c.1366T>G (p.Ser456Ala)
c.1078T>G (p.Ser360Ala)
c.1513T>G (p.Ser505Ala)
c.1498T>G (p.Ser500Ala)
 gnomAD v4
8g.71215660A>GCA371466410EYA1c.1429T>C (p.Ser477Pro)
c.1327T>C (p.Ser443Pro)
c.1324T>C (p.Ser442Pro)
c.*708T>C (n.*708T>C)
c.819T>C
n.1892T>C
c.*1106T>C (n.*1106T>C)
c.1516T>C (p.Ser506Pro)
c.1411T>C (p.Ser471Pro)
n.499T>C
c.1408T>C (p.Ser470Pro)
c.1330T>C (p.Ser444Pro)
c.1426T>C (p.Ser476Pro)
c.*374T>C (n.*374T>C)
n.1924T>C
c.1063T>C (p.Ser355Pro)
c.1501T>C (p.Ser501Pro)
c.1414T>C (p.Ser472Pro)
c.1366T>C (p.Ser456Pro)
c.1078T>C (p.Ser360Pro)
c.1513T>C (p.Ser505Pro)
c.1498T>C (p.Ser500Pro)
8g.71215660A>TCA371466409EYA1c.1429T>A (p.Ser477Thr)
c.1327T>A (p.Ser443Thr)
c.1324T>A (p.Ser442Thr)
c.*708T>A (n.*708T>A)
c.819T>A
n.1892T>A
c.*1106T>A (n.*1106T>A)
c.1516T>A (p.Ser506Thr)
c.1411T>A (p.Ser471Thr)
n.499T>A
c.1408T>A (p.Ser470Thr)
c.1330T>A (p.Ser444Thr)
c.1426T>A (p.Ser476Thr)
c.*374T>A (n.*374T>A)
n.1924T>A
c.1063T>A (p.Ser355Thr)
c.1501T>A (p.Ser501Thr)
c.1414T>A (p.Ser472Thr)
c.1366T>A (p.Ser456Thr)
c.1078T>A (p.Ser360Thr)
c.1513T>A (p.Ser505Thr)
c.1498T>A (p.Ser500Thr)
8g.71215661G>ACA461325104EYA1c.1428C>T (p.Asp476=)
c.1326C>T (p.Asp442=)
c.1323C>T (p.Asp441=)
c.*707C>T (n.*707C>T)
c.818C>T
n.1891C>T
c.*1105C>T (n.*1105C>T)
c.1515C>T (p.Asp505=)
c.1410C>T (p.Asp470=)
n.498C>T
c.1407C>T (p.Asp469=)
c.1329C>T (p.Asp443=)
c.1425C>T (p.Asp475=)
c.*373C>T (n.*373C>T)
n.1923C>T
c.1062C>T (p.Asp354=)
c.1500C>T (p.Asp500=)
c.1413C>T (p.Asp471=)
c.1365C>T (p.Asp455=)
c.1077C>T (p.Asp359=)
c.1512C>T (p.Asp504=)
c.1497C>T (p.Asp499=)
8g.71215661G>CCA371466411EYA1c.1428C>G (p.Asp476Glu)
c.1326C>G (p.Asp442Glu)
c.1323C>G (p.Asp441Glu)
c.*707C>G (n.*707C>G)
c.818C>G
n.1891C>G
c.*1105C>G (n.*1105C>G)
c.1515C>G (p.Asp505Glu)
c.1410C>G (p.Asp470Glu)
n.498C>G
c.1407C>G (p.Asp469Glu)
c.1329C>G (p.Asp443Glu)
c.1425C>G (p.Asp475Glu)
c.*373C>G (n.*373C>G)
n.1923C>G
c.1062C>G (p.Asp354Glu)
c.1500C>G (p.Asp500Glu)
c.1413C>G (p.Asp471Glu)
c.1365C>G (p.Asp455Glu)
c.1077C>G (p.Asp359Glu)
c.1512C>G (p.Asp504Glu)
c.1497C>G (p.Asp499Glu)
8g.71215661G>TCA371466412EYA1c.1428C>A (p.Asp476Glu)
c.1326C>A (p.Asp442Glu)
c.1323C>A (p.Asp441Glu)
c.*707C>A (n.*707C>A)
c.818C>A
n.1891C>A
c.*1105C>A (n.*1105C>A)
c.1515C>A (p.Asp505Glu)
c.1410C>A (p.Asp470Glu)
n.498C>A
c.1407C>A (p.Asp469Glu)
c.1329C>A (p.Asp443Glu)
c.1425C>A (p.Asp475Glu)
c.*373C>A (n.*373C>A)
n.1923C>A
c.1062C>A (p.Asp354Glu)
c.1500C>A (p.Asp500Glu)
c.1413C>A (p.Asp471Glu)
c.1365C>A (p.Asp455Glu)
c.1077C>A (p.Asp359Glu)
c.1512C>A (p.Asp504Glu)
c.1497C>A (p.Asp499Glu)
8g.71215662T>ACA371466413EYA1c.1427A>T (p.Asp476Val)
c.1325A>T (p.Asp442Val)
c.1322A>T (p.Asp441Val)
c.*706A>T (n.*706A>T)
c.817A>T
n.1890A>T
c.*1104A>T (n.*1104A>T)
c.1514A>T (p.Asp505Val)
c.1409A>T (p.Asp470Val)
n.497A>T
c.1406A>T (p.Asp469Val)
c.1328A>T (p.Asp443Val)
c.1424A>T (p.Asp475Val)
c.*372A>T (n.*372A>T)
n.1922A>T
c.1061A>T (p.Asp354Val)
c.1499A>T (p.Asp500Val)
c.1412A>T (p.Asp471Val)
c.1364A>T (p.Asp455Val)
c.1076A>T (p.Asp359Val)
c.1511A>T (p.Asp504Val)
c.1496A>T (p.Asp499Val)
 gnomAD v3 gnomAD v4
8g.71215662T>CCA371466414EYA1c.1427A>G (p.Asp476Gly)
c.1325A>G (p.Asp442Gly)
c.1322A>G (p.Asp441Gly)
c.*706A>G (n.*706A>G)
c.817A>G
n.1890A>G
c.*1104A>G (n.*1104A>G)
c.1514A>G (p.Asp505Gly)
c.1409A>G (p.Asp470Gly)
n.497A>G
c.1406A>G (p.Asp469Gly)
c.1328A>G (p.Asp443Gly)
c.1424A>G (p.Asp475Gly)
c.*372A>G (n.*372A>G)
n.1922A>G
c.1061A>G (p.Asp354Gly)
c.1499A>G (p.Asp500Gly)
c.1412A>G (p.Asp471Gly)
c.1364A>G (p.Asp455Gly)
c.1076A>G (p.Asp359Gly)
c.1511A>G (p.Asp504Gly)
c.1496A>G (p.Asp499Gly)
 gnomAD v3 gnomAD v4
8g.71215662T>GCA371466415EYA1c.1427A>C (p.Asp476Ala)
c.1325A>C (p.Asp442Ala)
c.1322A>C (p.Asp441Ala)
c.*706A>C (n.*706A>C)
c.817A>C
n.1890A>C
c.*1104A>C (n.*1104A>C)
c.1514A>C (p.Asp505Ala)
c.1409A>C (p.Asp470Ala)
n.497A>C
c.1406A>C (p.Asp469Ala)
c.1328A>C (p.Asp443Ala)
c.1424A>C (p.Asp475Ala)
c.*372A>C (n.*372A>C)
n.1922A>C
c.1061A>C (p.Asp354Ala)
c.1499A>C (p.Asp500Ala)
c.1412A>C (p.Asp471Ala)
c.1364A>C (p.Asp455Ala)
c.1076A>C (p.Asp359Ala)
c.1511A>C (p.Asp504Ala)
c.1496A>C (p.Asp499Ala)
 gnomAD v3 gnomAD v4
8g.71215663C>ACA371466416EYA1c.1426G>T (p.Asp476Tyr)
c.1324G>T (p.Asp442Tyr)
c.1321G>T (p.Asp441Tyr)
c.*705G>T (n.*705G>T)
c.816G>T
n.1889G>T
c.*1103G>T (n.*1103G>T)
c.1513G>T (p.Asp505Tyr)
c.1408G>T (p.Asp470Tyr)
n.496G>T
c.1405G>T (p.Asp469Tyr)
c.1327G>T (p.Asp443Tyr)
c.1423G>T (p.Asp475Tyr)
c.*371G>T (n.*371G>T)
n.1921G>T
c.1060G>T (p.Asp354Tyr)
c.1498G>T (p.Asp500Tyr)
c.1411G>T (p.Asp471Tyr)
c.1363G>T (p.Asp455Tyr)
c.1075G>T (p.Asp359Tyr)
c.1510G>T (p.Asp504Tyr)
c.1495G>T (p.Asp499Tyr)
8g.71215663C=CA1792691830EYA1c.1426G= (p.Asp476=)
c.1324G= (p.Asp442=)
c.1321G= (p.Asp441=)
c.*705G= (n.*705G=)
c.816G=
n.1889G=
c.*1103G= (n.*1103G=)
c.1513G= (p.Asp505=)
c.1408G= (p.Asp470=)
n.496G=
c.1405G= (p.Asp469=)
c.1327G= (p.Asp443=)
c.1423G= (p.Asp475=)
c.*371G= (n.*371G=)
n.1921G=
c.1060G= (p.Asp354=)
c.1498G= (p.Asp500=)
c.1411G= (p.Asp471=)
c.1363G= (p.Asp455=)
c.1075G= (p.Asp359=)
c.1510G= (p.Asp504=)
c.1495G= (p.Asp499=)
8g.71215663C>GCA371466417EYA1c.1426G>C (p.Asp476His)
c.1324G>C (p.Asp442His)
c.1321G>C (p.Asp441His)
c.*705G>C (n.*705G>C)
c.816G>C
n.1889G>C
c.*1103G>C (n.*1103G>C)
c.1513G>C (p.Asp505His)
c.1408G>C (p.Asp470His)
n.496G>C
c.1405G>C (p.Asp469His)
c.1327G>C (p.Asp443His)
c.1423G>C (p.Asp475His)
c.*371G>C (n.*371G>C)
n.1921G>C
c.1060G>C (p.Asp354His)
c.1498G>C (p.Asp500His)
c.1411G>C (p.Asp471His)
c.1363G>C (p.Asp455His)
c.1075G>C (p.Asp359His)
c.1510G>C (p.Asp504His)
c.1495G>C (p.Asp499His)
8g.71215663C>TCA4779468EYA1c.1426G>A (p.Asp476Asn)
c.1324G>A (p.Asp442Asn)
c.1321G>A (p.Asp441Asn)
c.*705G>A (n.*705G>A)
c.816G>A
n.1889G>A
c.*1103G>A (n.*1103G>A)
c.1513G>A (p.Asp505Asn)
c.1408G>A (p.Asp470Asn)
n.496G>A
c.1405G>A (p.Asp469Asn)
c.1327G>A (p.Asp443Asn)
c.1423G>A (p.Asp475Asn)
c.*371G>A (n.*371G>A)
n.1921G>A
c.1060G>A (p.Asp354Asn)
c.1498G>A (p.Asp500Asn)
c.1411G>A (p.Asp471Asn)
c.1363G>A (p.Asp455Asn)
c.1075G>A (p.Asp359Asn)
c.1510G>A (p.Asp504Asn)
c.1495G>A (p.Asp499Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
8g.71215664G>ACA176067EYA1c.1425C>T (p.Thr475=)
c.1323C>T (p.Thr441=)
c.1320C>T (p.Thr440=)
c.*704C>T (n.*704C>T)
c.815C>T
n.1888C>T
c.*1102C>T (n.*1102C>T)
c.1512C>T (p.Thr504=)
c.1407C>T (p.Thr469=)
n.495C>T
c.1404C>T (p.Thr468=)
c.1326C>T (p.Thr442=)
c.1422C>T (p.Thr474=)
c.*370C>T (n.*370C>T)
n.1920C>T
c.1059C>T (p.Thr353=)
c.1497C>T (p.Thr499=)
c.1410C>T (p.Thr470=)
c.1362C>T (p.Thr454=)
c.1074C>T (p.Thr358=)
c.1509C>T (p.Thr503=)
c.1494C>T (p.Thr498=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.71215664G>CCA461325105EYA1c.1425C>G (p.Thr475=)
c.1323C>G (p.Thr441=)
c.1320C>G (p.Thr440=)
c.*704C>G (n.*704C>G)
c.815C>G
n.1888C>G
c.*1102C>G (n.*1102C>G)
c.1512C>G (p.Thr504=)
c.1407C>G (p.Thr469=)
n.495C>G
c.1404C>G (p.Thr468=)
c.1326C>G (p.Thr442=)
c.1422C>G (p.Thr474=)
c.*370C>G (n.*370C>G)
n.1920C>G
c.1059C>G (p.Thr353=)
c.1497C>G (p.Thr499=)
c.1410C>G (p.Thr470=)
c.1362C>G (p.Thr454=)
c.1074C>G (p.Thr358=)
c.1509C>G (p.Thr503=)
c.1494C>G (p.Thr498=)
8g.71215664G=CA1792691837EYA1c.1425C= (p.Thr475=)
c.1323C= (p.Thr441=)
c.1320C= (p.Thr440=)
c.*704C= (n.*704C=)
c.815C=
n.1888C=
c.*1102C= (n.*1102C=)
c.1512C= (p.Thr504=)
c.1407C= (p.Thr469=)
n.495C=
c.1404C= (p.Thr468=)
c.1326C= (p.Thr442=)
c.1422C= (p.Thr474=)
c.*370C= (n.*370C=)
n.1920C=
c.1059C= (p.Thr353=)
c.1497C= (p.Thr499=)
c.1410C= (p.Thr470=)
c.1362C= (p.Thr454=)
c.1074C= (p.Thr358=)
c.1509C= (p.Thr503=)
c.1494C= (p.Thr498=)
8g.71215664G>TCA461325106EYA1c.1425C>A (p.Thr475=)
c.1323C>A (p.Thr441=)
c.1320C>A (p.Thr440=)
c.*704C>A (n.*704C>A)
c.815C>A
n.1888C>A
c.*1102C>A (n.*1102C>A)
c.1512C>A (p.Thr504=)
c.1407C>A (p.Thr469=)
n.495C>A
c.1404C>A (p.Thr468=)
c.1326C>A (p.Thr442=)
c.1422C>A (p.Thr474=)
c.*370C>A (n.*370C>A)
n.1920C>A
c.1059C>A (p.Thr353=)
c.1497C>A (p.Thr499=)
c.1410C>A (p.Thr470=)
c.1362C>A (p.Thr454=)
c.1074C>A (p.Thr358=)
c.1509C>A (p.Thr503=)
c.1494C>A (p.Thr498=)
 dbSNP gnomAD v3 gnomAD v4
8g.71215665delCA2499219394EYA1c.1425del (p.Asp476ThrfsTer4)
c.1323del (p.Asp442ThrfsTer4)
c.1320del (p.Asp441ThrfsTer4)
c.*704del (n.*704del)
c.815del
n.1888del
c.*1102del (n.*1102del)
c.1512del (p.Asp505ThrfsTer4)
c.1407del (p.Asp470ThrfsTer4)
n.495del
c.1404del (p.Asp469ThrfsTer4)
c.1326del (p.Asp443ThrfsTer4)
c.1422del (p.Asp475ThrfsTer4)
c.*370del (n.*370del)
n.1920del
c.1059del (p.Asp354ThrfsTer4)
c.1497del (p.Asp500ThrfsTer4)
c.1410del (p.Asp471ThrfsTer4)
c.1362del (p.Asp455ThrfsTer4)
c.1074del (p.Asp359ThrfsTer4)
c.1509del (p.Asp504ThrfsTer4)
c.1494del (p.Asp499ThrfsTer4)
 ClinVar dbSNP
8g.71215665G>ACA371466418EYA1c.1424C>T (p.Thr475Ile)
c.1322C>T (p.Thr441Ile)
c.1319C>T (p.Thr440Ile)
c.*703C>T (n.*703C>T)
c.814C>T
n.1887C>T
c.*1101C>T (n.*1101C>T)
c.1511C>T (p.Thr504Ile)
c.1406C>T (p.Thr469Ile)
n.494C>T
c.1403C>T (p.Thr468Ile)
c.1325C>T (p.Thr442Ile)
c.1421C>T (p.Thr474Ile)
c.*369C>T (n.*369C>T)
n.1919C>T
c.1058C>T (p.Thr353Ile)
c.1496C>T (p.Thr499Ile)
c.1409C>T (p.Thr470Ile)
c.1361C>T (p.Thr454Ile)
c.1073C>T (p.Thr358Ile)
c.1508C>T (p.Thr503Ile)
c.1493C>T (p.Thr498Ile)
8g.71215665G>CCA371466419EYA1c.1424C>G (p.Thr475Ser)
c.1322C>G (p.Thr441Ser)
c.1319C>G (p.Thr440Ser)
c.*703C>G (n.*703C>G)
c.814C>G
n.1887C>G
c.*1101C>G (n.*1101C>G)
c.1511C>G (p.Thr504Ser)
c.1406C>G (p.Thr469Ser)
n.494C>G
c.1403C>G (p.Thr468Ser)
c.1325C>G (p.Thr442Ser)
c.1421C>G (p.Thr474Ser)
c.*369C>G (n.*369C>G)
n.1919C>G
c.1058C>G (p.Thr353Ser)
c.1496C>G (p.Thr499Ser)
c.1409C>G (p.Thr470Ser)
c.1361C>G (p.Thr454Ser)
c.1073C>G (p.Thr358Ser)
c.1508C>G (p.Thr503Ser)
c.1493C>G (p.Thr498Ser)
8g.71215665G=CA1792691842EYA1c.1424C= (p.Thr475=)
c.1322C= (p.Thr441=)
c.1319C= (p.Thr440=)
c.*703C= (n.*703C=)
c.814C=
n.1887C=
c.*1101C= (n.*1101C=)
c.1511C= (p.Thr504=)
c.1406C= (p.Thr469=)
n.494C=
c.1403C= (p.Thr468=)
c.1325C= (p.Thr442=)
c.1421C= (p.Thr474=)
c.*369C= (n.*369C=)
n.1919C=
c.1058C= (p.Thr353=)
c.1496C= (p.Thr499=)
c.1409C= (p.Thr470=)
c.1361C= (p.Thr454=)
c.1073C= (p.Thr358=)
c.1508C= (p.Thr503=)
c.1493C= (p.Thr498=)
8g.71215665G>TCA371466420EYA1c.1424C>A (p.Thr475Asn)
c.1322C>A (p.Thr441Asn)
c.1319C>A (p.Thr440Asn)
c.*703C>A (n.*703C>A)
c.814C>A
n.1887C>A
c.*1101C>A (n.*1101C>A)
c.1511C>A (p.Thr504Asn)
c.1406C>A (p.Thr469Asn)
n.494C>A
c.1403C>A (p.Thr468Asn)
c.1325C>A (p.Thr442Asn)
c.1421C>A (p.Thr474Asn)
c.*369C>A (n.*369C>A)
n.1919C>A
c.1058C>A (p.Thr353Asn)
c.1496C>A (p.Thr499Asn)
c.1409C>A (p.Thr470Asn)
c.1361C>A (p.Thr454Asn)
c.1073C>A (p.Thr358Asn)
c.1508C>A (p.Thr503Asn)
c.1493C>A (p.Thr498Asn)
 dbSNP gnomAD v2 gnomAD v4
8g.71215666T>ACA371466423EYA1c.1423A>T (p.Thr475Ser)
c.1321A>T (p.Thr441Ser)
c.1318A>T (p.Thr440Ser)
c.*702A>T (n.*702A>T)
c.813A>T
n.1886A>T
c.*1100A>T (n.*1100A>T)
c.1510A>T (p.Thr504Ser)
c.1405A>T (p.Thr469Ser)
n.493A>T
c.1402A>T (p.Thr468Ser)
c.1324A>T (p.Thr442Ser)
c.1420A>T (p.Thr474Ser)
c.*368A>T (n.*368A>T)
n.1918A>T
c.1057A>T (p.Thr353Ser)
c.1495A>T (p.Thr499Ser)
c.1408A>T (p.Thr470Ser)
c.1360A>T (p.Thr454Ser)
c.1072A>T (p.Thr358Ser)
c.1507A>T (p.Thr503Ser)
c.1492A>T (p.Thr498Ser)
8g.71215666T>CCA371466421EYA1c.1423A>G (p.Thr475Ala)
c.1321A>G (p.Thr441Ala)
c.1318A>G (p.Thr440Ala)
c.*702A>G (n.*702A>G)
c.813A>G
n.1886A>G
c.*1100A>G (n.*1100A>G)
c.1510A>G (p.Thr504Ala)
c.1405A>G (p.Thr469Ala)
n.493A>G
c.1402A>G (p.Thr468Ala)
c.1324A>G (p.Thr442Ala)
c.1420A>G (p.Thr474Ala)
c.*368A>G (n.*368A>G)
n.1918A>G
c.1057A>G (p.Thr353Ala)
c.1495A>G (p.Thr499Ala)
c.1408A>G (p.Thr470Ala)
c.1360A>G (p.Thr454Ala)
c.1072A>G (p.Thr358Ala)
c.1507A>G (p.Thr503Ala)
c.1492A>G (p.Thr498Ala)
8g.71215666T>GCA371466422EYA1c.1423A>C (p.Thr475Pro)
c.1321A>C (p.Thr441Pro)
c.1318A>C (p.Thr440Pro)
c.*702A>C (n.*702A>C)
c.813A>C
n.1886A>C
c.*1100A>C (n.*1100A>C)
c.1510A>C (p.Thr504Pro)
c.1405A>C (p.Thr469Pro)
n.493A>C
c.1402A>C (p.Thr468Pro)
c.1324A>C (p.Thr442Pro)
c.1420A>C (p.Thr474Pro)
c.*368A>C (n.*368A>C)
n.1918A>C
c.1057A>C (p.Thr353Pro)
c.1495A>C (p.Thr499Pro)
c.1408A>C (p.Thr470Pro)
c.1360A>C (p.Thr454Pro)
c.1072A>C (p.Thr358Pro)
c.1507A>C (p.Thr503Pro)
c.1492A>C (p.Thr498Pro)
8g.71215667C>ACA461325107EYA1c.1422G>T (p.Leu474=)
c.1320G>T (p.Leu440=)
c.1317G>T (p.Leu439=)
c.*701G>T (n.*701G>T)
c.812G>T
n.1885G>T
c.*1099G>T (n.*1099G>T)
c.1509G>T (p.Leu503=)
c.1404G>T (p.Leu468=)
n.492G>T
c.1401G>T (p.Leu467=)
c.1323G>T (p.Leu441=)
c.1419G>T (p.Leu473=)
c.*367G>T (n.*367G>T)
n.1917G>T
c.1056G>T (p.Leu352=)
c.1494G>T (p.Leu498=)
c.1407G>T (p.Leu469=)
c.1359G>T (p.Leu453=)
c.1071G>T (p.Leu357=)
c.1506G>T (p.Leu502=)
c.1491G>T (p.Leu497=)
 gnomAD v4
8g.71215667C>GCA461325108EYA1c.1422G>C (p.Leu474=)
c.1320G>C (p.Leu440=)
c.1317G>C (p.Leu439=)
c.*701G>C (n.*701G>C)
c.812G>C
n.1885G>C
c.*1099G>C (n.*1099G>C)
c.1509G>C (p.Leu503=)
c.1404G>C (p.Leu468=)
n.492G>C
c.1401G>C (p.Leu467=)
c.1323G>C (p.Leu441=)
c.1419G>C (p.Leu473=)
c.*367G>C (n.*367G>C)
n.1917G>C
c.1056G>C (p.Leu352=)
c.1494G>C (p.Leu498=)
c.1407G>C (p.Leu469=)
c.1359G>C (p.Leu453=)
c.1071G>C (p.Leu357=)
c.1506G>C (p.Leu502=)
c.1491G>C (p.Leu497=)
8g.71215667C>TCA461325109EYA1c.1422G>A (p.Leu474=)
c.1320G>A (p.Leu440=)
c.1317G>A (p.Leu439=)
c.*701G>A (n.*701G>A)
c.812G>A
n.1885G>A
c.*1099G>A (n.*1099G>A)
c.1509G>A (p.Leu503=)
c.1404G>A (p.Leu468=)
n.492G>A
c.1401G>A (p.Leu467=)
c.1323G>A (p.Leu441=)
c.1419G>A (p.Leu473=)
c.*367G>A (n.*367G>A)
n.1917G>A
c.1056G>A (p.Leu352=)
c.1494G>A (p.Leu498=)
c.1407G>A (p.Leu469=)
c.1359G>A (p.Leu453=)
c.1071G>A (p.Leu357=)
c.1506G>A (p.Leu502=)
c.1491G>A (p.Leu497=)
8g.71215667_71215671delinsCAGGGCA1792691847EYA1c.1418_1422delinsCCCTG (p.Ala473=)
c.1316_1320delinsCCCTG (p.Ala439=)
c.1313_1317delinsCCCTG (p.Ala438=)
c.*697_*701delinsCCCTG (n.*697_*701delinsCCCTG)
c.808_812delinsCCCTG
n.1881_1885delinsCCCTG
c.*1095_*1099delinsCCCTG (n.*1095_*1099delinsCCCTG)
c.1505_1509delinsCCCTG (p.Ala502=)
c.1400_1404delinsCCCTG (p.Ala467=)
n.488_492delinsCCCTG
c.1397_1401delinsCCCTG (p.Ala466=)
c.1319_1323delinsCCCTG (p.Ala440=)
c.1415_1419delinsCCCTG (p.Ala472=)
c.*363_*367delinsCCCTG (n.*363_*367delinsCCCTG)
n.1913_1917delinsCCCTG
c.1052_1056delinsCCCTG (p.Ala351=)
c.1490_1494delinsCCCTG (p.Ala497=)
c.1403_1407delinsCCCTG (p.Ala468=)
c.1355_1359delinsCCCTG (p.Ala452=)
c.1067_1071delinsCCCTG (p.Ala356=)
c.1502_1506delinsCCCTG (p.Ala501=)
c.1487_1491delinsCCCTG (p.Ala496=)
8g.71215668A>CCA371466424EYA1c.1421T>G (p.Leu474Arg)
c.1319T>G (p.Leu440Arg)
c.1316T>G (p.Leu439Arg)
c.*700T>G (n.*700T>G)
c.811T>G
n.1884T>G
c.*1098T>G (n.*1098T>G)
c.1508T>G (p.Leu503Arg)
c.1403T>G (p.Leu468Arg)
n.491T>G
c.1400T>G (p.Leu467Arg)
c.1322T>G (p.Leu441Arg)
c.1418T>G (p.Leu473Arg)
c.*366T>G (n.*366T>G)
n.1916T>G
c.1055T>G (p.Leu352Arg)
c.1493T>G (p.Leu498Arg)
c.1406T>G (p.Leu469Arg)
c.1358T>G (p.Leu453Arg)
c.1070T>G (p.Leu357Arg)
c.1505T>G (p.Leu502Arg)
c.1490T>G (p.Leu497Arg)
8g.71215668A>GCA371466425EYA1c.1421T>C (p.Leu474Pro)
c.1319T>C (p.Leu440Pro)
c.1316T>C (p.Leu439Pro)
c.*700T>C (n.*700T>C)
c.811T>C
n.1884T>C
c.*1098T>C (n.*1098T>C)
c.1508T>C (p.Leu503Pro)
c.1403T>C (p.Leu468Pro)
n.491T>C
c.1400T>C (p.Leu467Pro)
c.1322T>C (p.Leu441Pro)
c.1418T>C (p.Leu473Pro)
c.*366T>C (n.*366T>C)
n.1916T>C
c.1055T>C (p.Leu352Pro)
c.1493T>C (p.Leu498Pro)
c.1406T>C (p.Leu469Pro)
c.1358T>C (p.Leu453Pro)
c.1070T>C (p.Leu357Pro)
c.1505T>C (p.Leu502Pro)
c.1490T>C (p.Leu497Pro)
 gnomAD v4
8g.71215668A>TCA371466426EYA1c.1421T>A (p.Leu474Gln)
c.1319T>A (p.Leu440Gln)
c.1316T>A (p.Leu439Gln)
c.*700T>A (n.*700T>A)
c.811T>A
n.1884T>A
c.*1098T>A (n.*1098T>A)
c.1508T>A (p.Leu503Gln)
c.1403T>A (p.Leu468Gln)
n.491T>A
c.1400T>A (p.Leu467Gln)
c.1322T>A (p.Leu441Gln)
c.1418T>A (p.Leu473Gln)
c.*366T>A (n.*366T>A)
n.1916T>A
c.1055T>A (p.Leu352Gln)
c.1493T>A (p.Leu498Gln)
c.1406T>A (p.Leu469Gln)
c.1358T>A (p.Leu453Gln)
c.1070T>A (p.Leu357Gln)
c.1505T>A (p.Leu502Gln)
c.1490T>A (p.Leu497Gln)
8g.71215668_71215671delCA915945732EYA1c.1418_1421del (p.Ala473GlyfsTer6)
c.1316_1319del (p.Ala439GlyfsTer6)
c.1313_1316del (p.Ala438GlyfsTer6)
c.*697_*700del (n.*697_*700del)
c.808_811del
n.1881_1884del
c.*1095_*1098del (n.*1095_*1098del)
c.1505_1508del (p.Ala502GlyfsTer6)
c.1400_1403del (p.Ala467GlyfsTer6)
n.488_491del
c.1397_1400del (p.Ala466GlyfsTer6)
c.1319_1322del (p.Ala440GlyfsTer6)
c.1415_1418del (p.Ala472GlyfsTer6)
c.*363_*366del (n.*363_*366del)
n.1913_1916del
c.1052_1055del (p.Ala351GlyfsTer6)
c.1490_1493del (p.Ala497GlyfsTer6)
c.1403_1406del (p.Ala468GlyfsTer6)
c.1355_1358del (p.Ala452GlyfsTer6)
c.1067_1070del (p.Ala356GlyfsTer6)
c.1502_1505del (p.Ala501GlyfsTer6)
c.1487_1490del (p.Ala496GlyfsTer6)
 ClinVar dbSNP
8g.71215669G>ACA461325110EYA1c.1420C>T (p.Leu474=)
c.1318C>T (p.Leu440=)
c.1315C>T (p.Leu439=)
c.*699C>T (n.*699C>T)
c.810C>T
n.1883C>T
c.*1097C>T (n.*1097C>T)
c.1507C>T (p.Leu503=)
c.1402C>T (p.Leu468=)
n.490C>T
c.1399C>T (p.Leu467=)
c.1321C>T (p.Leu441=)
c.1417C>T (p.Leu473=)
c.*365C>T (n.*365C>T)
n.1915C>T
c.1054C>T (p.Leu352=)
c.1492C>T (p.Leu498=)
c.1405C>T (p.Leu469=)
c.1357C>T (p.Leu453=)
c.1069C>T (p.Leu357=)
c.1504C>T (p.Leu502=)
c.1489C>T (p.Leu497=)
 gnomAD v4
8g.71215669G>CCA371466427EYA1c.1420C>G (p.Leu474Val)
c.1318C>G (p.Leu440Val)
c.1315C>G (p.Leu439Val)
c.*699C>G (n.*699C>G)
c.810C>G
n.1883C>G
c.*1097C>G (n.*1097C>G)
c.1507C>G (p.Leu503Val)
c.1402C>G (p.Leu468Val)
n.490C>G
c.1399C>G (p.Leu467Val)
c.1321C>G (p.Leu441Val)
c.1417C>G (p.Leu473Val)
c.*365C>G (n.*365C>G)
n.1915C>G
c.1054C>G (p.Leu352Val)
c.1492C>G (p.Leu498Val)
c.1405C>G (p.Leu469Val)
c.1357C>G (p.Leu453Val)
c.1069C>G (p.Leu357Val)
c.1504C>G (p.Leu502Val)
c.1489C>G (p.Leu497Val)
8g.71215669G>TCA371466428EYA1c.1420C>A (p.Leu474Met)
c.1318C>A (p.Leu440Met)
c.1315C>A (p.Leu439Met)
c.*699C>A (n.*699C>A)
c.810C>A
n.1883C>A
c.*1097C>A (n.*1097C>A)
c.1507C>A (p.Leu503Met)
c.1402C>A (p.Leu468Met)
n.490C>A
c.1399C>A (p.Leu467Met)
c.1321C>A (p.Leu441Met)
c.1417C>A (p.Leu473Met)
c.*365C>A (n.*365C>A)
n.1915C>A
c.1054C>A (p.Leu352Met)
c.1492C>A (p.Leu498Met)
c.1405C>A (p.Leu469Met)
c.1357C>A (p.Leu453Met)
c.1069C>A (p.Leu357Met)
c.1504C>A (p.Leu502Met)
c.1489C>A (p.Leu497Met)
8g.71215670G>ACA4779469EYA1c.1419C>T (p.Ala473=)
c.1317C>T (p.Ala439=)
c.1314C>T (p.Ala438=)
c.*698C>T (n.*698C>T)
c.809C>T
n.1882C>T
c.*1096C>T (n.*1096C>T)
c.1506C>T (p.Ala502=)
c.1401C>T (p.Ala467=)
n.489C>T
c.1398C>T (p.Ala466=)
c.1320C>T (p.Ala440=)
c.1416C>T (p.Ala472=)
c.*364C>T (n.*364C>T)
n.1914C>T
c.1053C>T (p.Ala351=)
c.1491C>T (p.Ala497=)
c.1404C>T (p.Ala468=)
c.1356C>T (p.Ala452=)
c.1068C>T (p.Ala356=)
c.1503C>T (p.Ala501=)
c.1488C>T (p.Ala496=)
 dbSNP ExAC gnomAD v3 gnomAD v4
8g.71215670G>CCA461325111EYA1c.1419C>G (p.Ala473=)
c.1317C>G (p.Ala439=)
c.1314C>G (p.Ala438=)
c.*698C>G (n.*698C>G)
c.809C>G
n.1882C>G
c.*1096C>G (n.*1096C>G)
c.1506C>G (p.Ala502=)
c.1401C>G (p.Ala467=)
n.489C>G
c.1398C>G (p.Ala466=)
c.1320C>G (p.Ala440=)
c.1416C>G (p.Ala472=)
c.*364C>G (n.*364C>G)
n.1914C>G
c.1053C>G (p.Ala351=)
c.1491C>G (p.Ala497=)
c.1404C>G (p.Ala468=)
c.1356C>G (p.Ala452=)
c.1068C>G (p.Ala356=)
c.1503C>G (p.Ala501=)
c.1488C>G (p.Ala496=)
8g.71215670G=CA1792691854EYA1c.1419C= (p.Ala473=)
c.1317C= (p.Ala439=)
c.1314C= (p.Ala438=)
c.*698C= (n.*698C=)
c.809C=
n.1882C=
c.*1096C= (n.*1096C=)
c.1506C= (p.Ala502=)
c.1401C= (p.Ala467=)
n.489C=
c.1398C= (p.Ala466=)
c.1320C= (p.Ala440=)
c.1416C= (p.Ala472=)
c.*364C= (n.*364C=)
n.1914C=
c.1053C= (p.Ala351=)
c.1491C= (p.Ala497=)
c.1404C= (p.Ala468=)
c.1356C= (p.Ala452=)
c.1068C= (p.Ala356=)
c.1503C= (p.Ala501=)
c.1488C= (p.Ala496=)
8g.71215670G>TCA461325112EYA1c.1419C>A (p.Ala473=)
c.1317C>A (p.Ala439=)
c.1314C>A (p.Ala438=)
c.*698C>A (n.*698C>A)
c.809C>A
n.1882C>A
c.*1096C>A (n.*1096C>A)
c.1506C>A (p.Ala502=)
c.1401C>A (p.Ala467=)
n.489C>A
c.1398C>A (p.Ala466=)
c.1320C>A (p.Ala440=)
c.1416C>A (p.Ala472=)
c.*364C>A (n.*364C>A)
n.1914C>A
c.1053C>A (p.Ala351=)
c.1491C>A (p.Ala497=)
c.1404C>A (p.Ala468=)
c.1356C>A (p.Ala452=)
c.1068C>A (p.Ala356=)
c.1503C>A (p.Ala501=)
c.1488C>A (p.Ala496=)
8g.71215671G>ACA371466429EYA1c.1418C>T (p.Ala473Val)
c.1316C>T (p.Ala439Val)
c.1313C>T (p.Ala438Val)
c.*697C>T (n.*697C>T)
c.808C>T
n.1881C>T
c.*1095C>T (n.*1095C>T)
c.1505C>T (p.Ala502Val)
c.1400C>T (p.Ala467Val)
n.488C>T
c.1397C>T (p.Ala466Val)
c.1319C>T (p.Ala440Val)
c.1415C>T (p.Ala472Val)
c.*363C>T (n.*363C>T)
n.1913C>T
c.1052C>T (p.Ala351Val)
c.1490C>T (p.Ala497Val)
c.1403C>T (p.Ala468Val)
c.1355C>T (p.Ala452Val)
c.1067C>T (p.Ala356Val)
c.1502C>T (p.Ala501Val)
c.1487C>T (p.Ala496Val)
8g.71215671G>CCA371466430EYA1c.1418C>G (p.Ala473Gly)
c.1316C>G (p.Ala439Gly)
c.1313C>G (p.Ala438Gly)
c.*697C>G (n.*697C>G)
c.808C>G
n.1881C>G
c.*1095C>G (n.*1095C>G)
c.1505C>G (p.Ala502Gly)
c.1400C>G (p.Ala467Gly)
n.488C>G
c.1397C>G (p.Ala466Gly)
c.1319C>G (p.Ala440Gly)
c.1415C>G (p.Ala472Gly)
c.*363C>G (n.*363C>G)
n.1913C>G
c.1052C>G (p.Ala351Gly)
c.1490C>G (p.Ala497Gly)
c.1403C>G (p.Ala468Gly)
c.1355C>G (p.Ala452Gly)
c.1067C>G (p.Ala356Gly)
c.1502C>G (p.Ala501Gly)
c.1487C>G (p.Ala496Gly)
8g.71215671G>TCA371466431EYA1c.1418C>A (p.Ala473Asp)
c.1316C>A (p.Ala439Asp)
c.1313C>A (p.Ala438Asp)
c.*697C>A (n.*697C>A)
c.808C>A
n.1881C>A
c.*1095C>A (n.*1095C>A)
c.1505C>A (p.Ala502Asp)
c.1400C>A (p.Ala467Asp)
n.488C>A
c.1397C>A (p.Ala466Asp)
c.1319C>A (p.Ala440Asp)
c.1415C>A (p.Ala472Asp)
c.*363C>A (n.*363C>A)
n.1913C>A
c.1052C>A (p.Ala351Asp)
c.1490C>A (p.Ala497Asp)
c.1403C>A (p.Ala468Asp)
c.1355C>A (p.Ala452Asp)
c.1067C>A (p.Ala356Asp)
c.1502C>A (p.Ala501Asp)
c.1487C>A (p.Ala496Asp)
8g.71215672C>ACA371466432EYA1c.1417G>T (p.Ala473Ser)
c.1315G>T (p.Ala439Ser)
c.1312G>T (p.Ala438Ser)
c.*696G>T (n.*696G>T)
c.807G>T
n.1880G>T
c.*1094G>T (n.*1094G>T)
c.1504G>T (p.Ala502Ser)
c.1399G>T (p.Ala467Ser)
n.487G>T
c.1396G>T (p.Ala466Ser)
c.1318G>T (p.Ala440Ser)
c.1414G>T (p.Ala472Ser)
c.*362G>T (n.*362G>T)
n.1912G>T
c.1051G>T (p.Ala351Ser)
c.1489G>T (p.Ala497Ser)
c.1402G>T (p.Ala468Ser)
c.1354G>T (p.Ala452Ser)
c.1066G>T (p.Ala356Ser)
c.1501G>T (p.Ala501Ser)
c.1486G>T (p.Ala496Ser)
 COSMIC COSMIC
8g.71215672C>GCA371466433EYA1c.1417G>C (p.Ala473Pro)
c.1315G>C (p.Ala439Pro)
c.1312G>C (p.Ala438Pro)
c.*696G>C (n.*696G>C)
c.807G>C
n.1880G>C
c.*1094G>C (n.*1094G>C)
c.1504G>C (p.Ala502Pro)
c.1399G>C (p.Ala467Pro)
n.487G>C
c.1396G>C (p.Ala466Pro)
c.1318G>C (p.Ala440Pro)
c.1414G>C (p.Ala472Pro)
c.*362G>C (n.*362G>C)
n.1912G>C
c.1051G>C (p.Ala351Pro)
c.1489G>C (p.Ala497Pro)
c.1402G>C (p.Ala468Pro)
c.1354G>C (p.Ala452Pro)
c.1066G>C (p.Ala356Pro)
c.1501G>C (p.Ala501Pro)
c.1486G>C (p.Ala496Pro)
8g.71215672C>TCA371466434EYA1c.1417G>A (p.Ala473Thr)
c.1315G>A (p.Ala439Thr)
c.1312G>A (p.Ala438Thr)
c.*696G>A (n.*696G>A)
c.807G>A
n.1880G>A
c.*1094G>A (n.*1094G>A)
c.1504G>A (p.Ala502Thr)
c.1399G>A (p.Ala467Thr)
n.487G>A
c.1396G>A (p.Ala466Thr)
c.1318G>A (p.Ala440Thr)
c.1414G>A (p.Ala472Thr)
c.*362G>A (n.*362G>A)
n.1912G>A
c.1051G>A (p.Ala351Thr)
c.1489G>A (p.Ala497Thr)
c.1402G>A (p.Ala468Thr)
c.1354G>A (p.Ala452Thr)
c.1066G>A (p.Ala356Thr)
c.1501G>A (p.Ala501Thr)
c.1486G>A (p.Ala496Thr)
8g.71215673T>ACA371466435EYA1c.1416A>T (p.Glu472Asp)
c.1314A>T (p.Glu438Asp)
c.1311A>T (p.Glu437Asp)
c.*695A>T (n.*695A>T)
c.806A>T
n.1879A>T
c.*1093A>T (n.*1093A>T)
c.1503A>T (p.Glu501Asp)
c.1398A>T (p.Glu466Asp)
n.486A>T
c.1395A>T (p.Glu465Asp)
c.1317A>T (p.Glu439Asp)
c.1413A>T (p.Glu471Asp)
c.*361A>T (n.*361A>T)
n.1911A>T
c.1050A>T (p.Glu350Asp)
c.1488A>T (p.Glu496Asp)
c.1401A>T (p.Glu467Asp)
c.1353A>T (p.Glu451Asp)
c.1065A>T (p.Glu355Asp)
c.1500A>T (p.Glu500Asp)
c.1485A>T (p.Glu495Asp)
8g.71215673T>CCA461325113EYA1c.1416A>G (p.Glu472=)
c.1314A>G (p.Glu438=)
c.1311A>G (p.Glu437=)
c.*695A>G (n.*695A>G)
c.806A>G
n.1879A>G
c.*1093A>G (n.*1093A>G)
c.1503A>G (p.Glu501=)
c.1398A>G (p.Glu466=)
n.486A>G
c.1395A>G (p.Glu465=)
c.1317A>G (p.Glu439=)
c.1413A>G (p.Glu471=)
c.*361A>G (n.*361A>G)
n.1911A>G
c.1050A>G (p.Glu350=)
c.1488A>G (p.Glu496=)
c.1401A>G (p.Glu467=)
c.1353A>G (p.Glu451=)
c.1065A>G (p.Glu355=)
c.1500A>G (p.Glu500=)
c.1485A>G (p.Glu495=)
8g.71215673T>GCA371466436EYA1c.1416A>C (p.Glu472Asp)
c.1314A>C (p.Glu438Asp)
c.1311A>C (p.Glu437Asp)
c.*695A>C (n.*695A>C)
c.806A>C
n.1879A>C
c.*1093A>C (n.*1093A>C)
c.1503A>C (p.Glu501Asp)
c.1398A>C (p.Glu466Asp)
n.486A>C
c.1395A>C (p.Glu465Asp)
c.1317A>C (p.Glu439Asp)
c.1413A>C (p.Glu471Asp)
c.*361A>C (n.*361A>C)
n.1911A>C
c.1050A>C (p.Glu350Asp)
c.1488A>C (p.Glu496Asp)
c.1401A>C (p.Glu467Asp)
c.1353A>C (p.Glu451Asp)
c.1065A>C (p.Glu355Asp)
c.1500A>C (p.Glu500Asp)
c.1485A>C (p.Glu495Asp)
8g.71215674T>ACA371466437EYA1c.1415A>T (p.Glu472Val)
c.1313A>T (p.Glu438Val)
c.1310A>T (p.Glu437Val)
c.*694A>T (n.*694A>T)
c.805A>T
n.1878A>T
c.*1092A>T (n.*1092A>T)
c.1502A>T (p.Glu501Val)
c.1397A>T (p.Glu466Val)
n.485A>T
c.1394A>T (p.Glu465Val)
c.1316A>T (p.Glu439Val)
c.1412A>T (p.Glu471Val)
c.*360A>T (n.*360A>T)
n.1910A>T
c.1049A>T (p.Glu350Val)
c.1487A>T (p.Glu496Val)
c.1400A>T (p.Glu467Val)
c.1352A>T (p.Glu451Val)
c.1064A>T (p.Glu355Val)
c.1499A>T (p.Glu500Val)
c.1484A>T (p.Glu495Val)
8g.71215674T>CCA371466438EYA1c.1415A>G (p.Glu472Gly)
c.1313A>G (p.Glu438Gly)
c.1310A>G (p.Glu437Gly)
c.*694A>G (n.*694A>G)
c.805A>G
n.1878A>G
c.*1092A>G (n.*1092A>G)
c.1502A>G (p.Glu501Gly)
c.1397A>G (p.Glu466Gly)
n.485A>G
c.1394A>G (p.Glu465Gly)
c.1316A>G (p.Glu439Gly)
c.1412A>G (p.Glu471Gly)
c.*360A>G (n.*360A>G)
n.1910A>G
c.1049A>G (p.Glu350Gly)
c.1487A>G (p.Glu496Gly)
c.1400A>G (p.Glu467Gly)
c.1352A>G (p.Glu451Gly)
c.1064A>G (p.Glu355Gly)
c.1499A>G (p.Glu500Gly)
c.1484A>G (p.Glu495Gly)
8g.71215674T>GCA371466439EYA1c.1415A>C (p.Glu472Ala)
c.1313A>C (p.Glu438Ala)
c.1310A>C (p.Glu437Ala)
c.*694A>C (n.*694A>C)
c.805A>C
n.1878A>C
c.*1092A>C (n.*1092A>C)
c.1502A>C (p.Glu501Ala)
c.1397A>C (p.Glu466Ala)
n.485A>C
c.1394A>C (p.Glu465Ala)
c.1316A>C (p.Glu439Ala)
c.1412A>C (p.Glu471Ala)
c.*360A>C (n.*360A>C)
n.1910A>C
c.1049A>C (p.Glu350Ala)
c.1487A>C (p.Glu496Ala)
c.1400A>C (p.Glu467Ala)
c.1352A>C (p.Glu451Ala)
c.1064A>C (p.Glu355Ala)
c.1499A>C (p.Glu500Ala)
c.1484A>C (p.Glu495Ala)
8g.71215675C>ACA371466440EYA1c.1414G>T (p.Glu472Ter)
c.1312G>T (p.Glu438Ter)
c.1309G>T (p.Glu437Ter)
c.*693G>T (n.*693G>T)
c.804G>T
n.1877G>T
c.*1091G>T (n.*1091G>T)
c.1501G>T (p.Glu501Ter)
c.1396G>T (p.Glu466Ter)
n.484G>T
c.1393G>T (p.Glu465Ter)
c.1315G>T (p.Glu439Ter)
c.1411G>T (p.Glu471Ter)
c.*359G>T (n.*359G>T)
n.1909G>T
c.1048G>T (p.Glu350Ter)
c.1486G>T (p.Glu496Ter)
c.1399G>T (p.Glu467Ter)
c.1351G>T (p.Glu451Ter)
c.1063G>T (p.Glu355Ter)
c.1498G>T (p.Glu500Ter)
c.1483G>T (p.Glu495Ter)
8g.71215675C>GCA371466441EYA1c.1414G>C (p.Glu472Gln)
c.1312G>C (p.Glu438Gln)
c.1309G>C (p.Glu437Gln)
c.*693G>C (n.*693G>C)
c.804G>C
n.1877G>C
c.*1091G>C (n.*1091G>C)
c.1501G>C (p.Glu501Gln)
c.1396G>C (p.Glu466Gln)
n.484G>C
c.1393G>C (p.Glu465Gln)
c.1315G>C (p.Glu439Gln)
c.1411G>C (p.Glu471Gln)
c.*359G>C (n.*359G>C)
n.1909G>C
c.1048G>C (p.Glu350Gln)
c.1486G>C (p.Glu496Gln)
c.1399G>C (p.Glu467Gln)
c.1351G>C (p.Glu451Gln)
c.1063G>C (p.Glu355Gln)
c.1498G>C (p.Glu500Gln)
c.1483G>C (p.Glu495Gln)
8g.71215675C>TCA371466442EYA1c.1414G>A (p.Glu472Lys)
c.1312G>A (p.Glu438Lys)
c.1309G>A (p.Glu437Lys)
c.*693G>A (n.*693G>A)
c.804G>A
n.1877G>A
c.*1091G>A (n.*1091G>A)
c.1501G>A (p.Glu501Lys)
c.1396G>A (p.Glu466Lys)
n.484G>A
c.1393G>A (p.Glu465Lys)
c.1315G>A (p.Glu439Lys)
c.1411G>A (p.Glu471Lys)
c.*359G>A (n.*359G>A)
n.1909G>A
c.1048G>A (p.Glu350Lys)
c.1486G>A (p.Glu496Lys)
c.1399G>A (p.Glu467Lys)
c.1351G>A (p.Glu451Lys)
c.1063G>A (p.Glu355Lys)
c.1498G>A (p.Glu500Lys)
c.1483G>A (p.Glu495Lys)
8g.71215676A=CA1792691856EYA1c.1413T= (p.Ile471=)
c.1311T= (p.Ile437=)
c.1308T= (p.Ile436=)
c.*692T= (n.*692T=)
c.803T=
n.1876T=
c.*1090T= (n.*1090T=)
c.1500T= (p.Ile500=)
c.1395T= (p.Ile465=)
n.483T=
c.1392T= (p.Ile464=)
c.1314T= (p.Ile438=)
c.1410T= (p.Ile470=)
c.*358T= (n.*358T=)
n.1908T=
c.1047T= (p.Ile349=)
c.1485T= (p.Ile495=)
c.1398T= (p.Ile466=)
c.1350T= (p.Ile450=)
c.1062T= (p.Ile354=)
c.1497T= (p.Ile499=)
c.1482T= (p.Ile494=)
8g.71215676A>CCA371466443EYA1c.1413T>G (p.Ile471Met)
c.1311T>G (p.Ile437Met)
c.1308T>G (p.Ile436Met)
c.*692T>G (n.*692T>G)
c.803T>G
n.1876T>G
c.*1090T>G (n.*1090T>G)
c.1500T>G (p.Ile500Met)
c.1395T>G (p.Ile465Met)
n.483T>G
c.1392T>G (p.Ile464Met)
c.1314T>G (p.Ile438Met)
c.1410T>G (p.Ile470Met)
c.*358T>G (n.*358T>G)
n.1908T>G
c.1047T>G (p.Ile349Met)
c.1485T>G (p.Ile495Met)
c.1398T>G (p.Ile466Met)
c.1350T>G (p.Ile450Met)
c.1062T>G (p.Ile354Met)
c.1497T>G (p.Ile499Met)
c.1482T>G (p.Ile494Met)
8g.71215676A>GCA461325114EYA1c.1413T>C (p.Ile471=)
c.1311T>C (p.Ile437=)
c.1308T>C (p.Ile436=)
c.*692T>C (n.*692T>C)
c.803T>C
n.1876T>C
c.*1090T>C (n.*1090T>C)
c.1500T>C (p.Ile500=)
c.1395T>C (p.Ile465=)
n.483T>C
c.1392T>C (p.Ile464=)
c.1314T>C (p.Ile438=)
c.1410T>C (p.Ile470=)
c.*358T>C (n.*358T>C)
n.1908T>C
c.1047T>C (p.Ile349=)
c.1485T>C (p.Ile495=)
c.1398T>C (p.Ile466=)
c.1350T>C (p.Ile450=)
c.1062T>C (p.Ile354=)
c.1497T>C (p.Ile499=)
c.1482T>C (p.Ile494=)
 dbSNP gnomAD v2 gnomAD v4
8g.71215676A>TCA461325115EYA1c.1413T>A (p.Ile471=)
c.1311T>A (p.Ile437=)
c.1308T>A (p.Ile436=)
c.*692T>A (n.*692T>A)
c.803T>A
n.1876T>A
c.*1090T>A (n.*1090T>A)
c.1500T>A (p.Ile500=)
c.1395T>A (p.Ile465=)
n.483T>A
c.1392T>A (p.Ile464=)
c.1314T>A (p.Ile438=)
c.1410T>A (p.Ile470=)
c.*358T>A (n.*358T>A)
n.1908T>A
c.1047T>A (p.Ile349=)
c.1485T>A (p.Ile495=)
c.1398T>A (p.Ile466=)
c.1350T>A (p.Ile450=)
c.1062T>A (p.Ile354=)
c.1497T>A (p.Ile499=)
c.1482T>A (p.Ile494=)
8g.71215677A>CCA371466444EYA1c.1412T>G (p.Ile471Ser)
c.1310T>G (p.Ile437Ser)
c.1307T>G (p.Ile436Ser)
c.*691T>G (n.*691T>G)
c.802T>G
n.1875T>G
c.*1089T>G (n.*1089T>G)
c.1499T>G (p.Ile500Ser)
c.1394T>G (p.Ile465Ser)
n.482T>G
c.1391T>G (p.Ile464Ser)
c.1313T>G (p.Ile438Ser)
c.1409T>G (p.Ile470Ser)
c.*357T>G (n.*357T>G)
n.1907T>G
c.1046T>G (p.Ile349Ser)
c.1484T>G (p.Ile495Ser)
c.1397T>G (p.Ile466Ser)
c.1349T>G (p.Ile450Ser)
c.1061T>G (p.Ile354Ser)
c.1496T>G (p.Ile499Ser)
c.1481T>G (p.Ile494Ser)
8g.71215677A>GCA371466445EYA1c.1412T>C (p.Ile471Thr)
c.1310T>C (p.Ile437Thr)
c.1307T>C (p.Ile436Thr)
c.*691T>C (n.*691T>C)
c.802T>C
n.1875T>C
c.*1089T>C (n.*1089T>C)
c.1499T>C (p.Ile500Thr)
c.1394T>C (p.Ile465Thr)
n.482T>C
c.1391T>C (p.Ile464Thr)
c.1313T>C (p.Ile438Thr)
c.1409T>C (p.Ile470Thr)
c.*357T>C (n.*357T>C)
n.1907T>C
c.1046T>C (p.Ile349Thr)
c.1484T>C (p.Ile495Thr)
c.1397T>C (p.Ile466Thr)
c.1349T>C (p.Ile450Thr)
c.1061T>C (p.Ile354Thr)
c.1496T>C (p.Ile499Thr)
c.1481T>C (p.Ile494Thr)
8g.71215677A>TCA371466446EYA1c.1412T>A (p.Ile471Asn)
c.1310T>A (p.Ile437Asn)
c.1307T>A (p.Ile436Asn)
c.*691T>A (n.*691T>A)
c.802T>A
n.1875T>A
c.*1089T>A (n.*1089T>A)
c.1499T>A (p.Ile500Asn)
c.1394T>A (p.Ile465Asn)
n.482T>A
c.1391T>A (p.Ile464Asn)
c.1313T>A (p.Ile438Asn)
c.1409T>A (p.Ile470Asn)
c.*357T>A (n.*357T>A)
n.1907T>A
c.1046T>A (p.Ile349Asn)
c.1484T>A (p.Ile495Asn)
c.1397T>A (p.Ile466Asn)
c.1349T>A (p.Ile450Asn)
c.1061T>A (p.Ile354Asn)
c.1496T>A (p.Ile499Asn)
c.1481T>A (p.Ile494Asn)
8g.71215678T>ACA371466447EYA1c.1411A>T (p.Ile471Phe)
c.1309A>T (p.Ile437Phe)
c.1306A>T (p.Ile436Phe)
c.*690A>T (n.*690A>T)
c.801A>T
n.1874A>T
c.*1088A>T (n.*1088A>T)
c.1498A>T (p.Ile500Phe)
c.1393A>T (p.Ile465Phe)
n.481A>T
c.1390A>T (p.Ile464Phe)
c.1312A>T (p.Ile438Phe)
c.1408A>T (p.Ile470Phe)
c.*356A>T (n.*356A>T)
n.1906A>T
c.1045A>T (p.Ile349Phe)
c.1483A>T (p.Ile495Phe)
c.1396A>T (p.Ile466Phe)
c.1348A>T (p.Ile450Phe)
c.1060A>T (p.Ile354Phe)
c.1495A>T (p.Ile499Phe)
c.1480A>T (p.Ile494Phe)
 dbSNP gnomAD v4
8g.71215678T>CCA371466448EYA1c.1411A>G (p.Ile471Val)
c.1309A>G (p.Ile437Val)
c.1306A>G (p.Ile436Val)
c.*690A>G (n.*690A>G)
c.801A>G
n.1874A>G
c.*1088A>G (n.*1088A>G)
c.1498A>G (p.Ile500Val)
c.1393A>G (p.Ile465Val)
n.481A>G
c.1390A>G (p.Ile464Val)
c.1312A>G (p.Ile438Val)
c.1408A>G (p.Ile470Val)
c.*356A>G (n.*356A>G)
n.1906A>G
c.1045A>G (p.Ile349Val)
c.1483A>G (p.Ile495Val)
c.1396A>G (p.Ile466Val)
c.1348A>G (p.Ile450Val)
c.1060A>G (p.Ile354Val)
c.1495A>G (p.Ile499Val)
c.1480A>G (p.Ile494Val)
8g.71215678T>GCA371466449EYA1c.1411A>C (p.Ile471Leu)
c.1309A>C (p.Ile437Leu)
c.1306A>C (p.Ile436Leu)
c.*690A>C (n.*690A>C)
c.801A>C
n.1874A>C
c.*1088A>C (n.*1088A>C)
c.1498A>C (p.Ile500Leu)
c.1393A>C (p.Ile465Leu)
n.481A>C
c.1390A>C (p.Ile464Leu)
c.1312A>C (p.Ile438Leu)
c.1408A>C (p.Ile470Leu)
c.*356A>C (n.*356A>C)
n.1906A>C
c.1045A>C (p.Ile349Leu)
c.1483A>C (p.Ile495Leu)
c.1396A>C (p.Ile466Leu)
c.1348A>C (p.Ile450Leu)
c.1060A>C (p.Ile354Leu)
c.1495A>C (p.Ile499Leu)
c.1480A>C (p.Ile494Leu)
8g.71215678T=CA1792691860EYA1c.1411A= (p.Ile471=)
c.1309A= (p.Ile437=)
c.1306A= (p.Ile436=)
c.*690A= (n.*690A=)
c.801A=
n.1874A=
c.*1088A= (n.*1088A=)
c.1498A= (p.Ile500=)
c.1393A= (p.Ile465=)
n.481A=
c.1390A= (p.Ile464=)
c.1312A= (p.Ile438=)
c.1408A= (p.Ile470=)
c.*356A= (n.*356A=)
n.1906A=
c.1045A= (p.Ile349=)
c.1483A= (p.Ile495=)
c.1396A= (p.Ile466=)
c.1348A= (p.Ile450=)
c.1060A= (p.Ile354=)
c.1495A= (p.Ile499=)
c.1480A= (p.Ile494=)
8g.71215679T>ACA371466451EYA1c.1410A>T (p.Glu470Asp)
c.1308A>T (p.Glu436Asp)
c.1305A>T (p.Glu435Asp)
c.*689A>T (n.*689A>T)
c.800A>T
n.1873A>T
c.*1087A>T (n.*1087A>T)
c.1497A>T (p.Glu499Asp)
c.1392A>T (p.Glu464Asp)
n.480A>T
c.1389A>T (p.Glu463Asp)
c.1311A>T (p.Glu437Asp)
c.1407A>T (p.Glu469Asp)
c.*355A>T (n.*355A>T)
n.1905A>T
c.1044A>T (p.Glu348Asp)
c.1482A>T (p.Glu494Asp)
c.1395A>T (p.Glu465Asp)
c.1347A>T (p.Glu449Asp)
c.1059A>T (p.Glu353Asp)
c.1494A>T (p.Glu498Asp)
c.1479A>T (p.Glu493Asp)
8g.71215679T>CCA461325116EYA1c.1410A>G (p.Glu470=)
c.1308A>G (p.Glu436=)
c.1305A>G (p.Glu435=)
c.*689A>G (n.*689A>G)
c.800A>G
n.1873A>G
c.*1087A>G (n.*1087A>G)
c.1497A>G (p.Glu499=)
c.1392A>G (p.Glu464=)
n.480A>G
c.1389A>G (p.Glu463=)
c.1311A>G (p.Glu437=)
c.1407A>G (p.Glu469=)
c.*355A>G (n.*355A>G)
n.1905A>G
c.1044A>G (p.Glu348=)
c.1482A>G (p.Glu494=)
c.1395A>G (p.Glu465=)
c.1347A>G (p.Glu449=)
c.1059A>G (p.Glu353=)
c.1494A>G (p.Glu498=)
c.1479A>G (p.Glu493=)
8g.71215679T>GCA371466450EYA1c.1410A>C (p.Glu470Asp)
c.1308A>C (p.Glu436Asp)
c.1305A>C (p.Glu435Asp)
c.*689A>C (n.*689A>C)
c.800A>C
n.1873A>C
c.*1087A>C (n.*1087A>C)
c.1497A>C (p.Glu499Asp)
c.1392A>C (p.Glu464Asp)
n.480A>C
c.1389A>C (p.Glu463Asp)
c.1311A>C (p.Glu437Asp)
c.1407A>C (p.Glu469Asp)
c.*355A>C (n.*355A>C)
n.1905A>C
c.1044A>C (p.Glu348Asp)
c.1482A>C (p.Glu494Asp)
c.1395A>C (p.Glu465Asp)
c.1347A>C (p.Glu449Asp)
c.1059A>C (p.Glu353Asp)
c.1494A>C (p.Glu498Asp)
c.1479A>C (p.Glu493Asp)
8g.71215680T>ACA371466452EYA1c.1409A>T (p.Glu470Val)
c.1307A>T (p.Glu436Val)
c.1304A>T (p.Glu435Val)
c.*688A>T (n.*688A>T)
c.799A>T
n.1872A>T
c.*1086A>T (n.*1086A>T)
c.1496A>T (p.Glu499Val)
c.1391A>T (p.Glu464Val)
n.479A>T
c.1388A>T (p.Glu463Val)
c.1310A>T (p.Glu437Val)
c.1406A>T (p.Glu469Val)
c.*354A>T (n.*354A>T)
n.1904A>T
c.1043A>T (p.Glu348Val)
c.1481A>T (p.Glu494Val)
c.1394A>T (p.Glu465Val)
c.1346A>T (p.Glu449Val)
c.1058A>T (p.Glu353Val)
c.1493A>T (p.Glu498Val)
c.1478A>T (p.Glu493Val)
8g.71215680T>CCA371466453EYA1c.1409A>G (p.Glu470Gly)
c.1307A>G (p.Glu436Gly)
c.1304A>G (p.Glu435Gly)
c.*688A>G (n.*688A>G)
c.799A>G
n.1872A>G
c.*1086A>G (n.*1086A>G)
c.1496A>G (p.Glu499Gly)
c.1391A>G (p.Glu464Gly)
n.479A>G
c.1388A>G (p.Glu463Gly)
c.1310A>G (p.Glu437Gly)
c.1406A>G (p.Glu469Gly)
c.*354A>G (n.*354A>G)
n.1904A>G
c.1043A>G (p.Glu348Gly)
c.1481A>G (p.Glu494Gly)
c.1394A>G (p.Glu465Gly)
c.1346A>G (p.Glu449Gly)
c.1058A>G (p.Glu353Gly)
c.1493A>G (p.Glu498Gly)
c.1478A>G (p.Glu493Gly)
8g.71215680T>GCA371466454EYA1c.1409A>C (p.Glu470Ala)
c.1307A>C (p.Glu436Ala)
c.1304A>C (p.Glu435Ala)
c.*688A>C (n.*688A>C)
c.799A>C
n.1872A>C
c.*1086A>C (n.*1086A>C)
c.1496A>C (p.Glu499Ala)
c.1391A>C (p.Glu464Ala)
n.479A>C
c.1388A>C (p.Glu463Ala)
c.1310A>C (p.Glu437Ala)
c.1406A>C (p.Glu469Ala)
c.*354A>C (n.*354A>C)
n.1904A>C
c.1043A>C (p.Glu348Ala)
c.1481A>C (p.Glu494Ala)
c.1394A>C (p.Glu465Ala)
c.1346A>C (p.Glu449Ala)
c.1058A>C (p.Glu353Ala)
c.1493A>C (p.Glu498Ala)
c.1478A>C (p.Glu493Ala)
 COSMIC COSMIC
8g.71215681C>ACA371466455EYA1c.1408G>T (p.Glu470Ter)
c.1306G>T (p.Glu436Ter)
c.1303G>T (p.Glu435Ter)
c.*687G>T (n.*687G>T)
c.798G>T
n.1871G>T
c.*1085G>T (n.*1085G>T)
c.1495G>T (p.Glu499Ter)
c.1390G>T (p.Glu464Ter)
n.478G>T
c.1387G>T (p.Glu463Ter)
c.1309G>T (p.Glu437Ter)
c.1405G>T (p.Glu469Ter)
c.*353G>T (n.*353G>T)
n.1903G>T
c.1042G>T (p.Glu348Ter)
c.1480G>T (p.Glu494Ter)
c.1393G>T (p.Glu465Ter)
c.1345G>T (p.Glu449Ter)
c.1057G>T (p.Glu353Ter)
c.1492G>T (p.Glu498Ter)
c.1477G>T (p.Glu493Ter)
 ClinVar
8g.71215681C=CA1792691865EYA1c.1408G= (p.Glu470=)
c.1306G= (p.Glu436=)
c.1303G= (p.Glu435=)
c.*687G= (n.*687G=)
c.798G=
n.1871G=
c.*1085G= (n.*1085G=)
c.1495G= (p.Glu499=)
c.1390G= (p.Glu464=)
n.478G=
c.1387G= (p.Glu463=)
c.1309G= (p.Glu437=)
c.1405G= (p.Glu469=)
c.*353G= (n.*353G=)
n.1903G=
c.1042G= (p.Glu348=)
c.1480G= (p.Glu494=)
c.1393G= (p.Glu465=)
c.1345G= (p.Glu449=)
c.1057G= (p.Glu353=)
c.1492G= (p.Glu498=)
c.1477G= (p.Glu493=)
8g.71215681C>GCA371466456EYA1c.1408G>C (p.Glu470Gln)
c.1306G>C (p.Glu436Gln)
c.1303G>C (p.Glu435Gln)
c.*687G>C (n.*687G>C)
c.798G>C
n.1871G>C
c.*1085G>C (n.*1085G>C)
c.1495G>C (p.Glu499Gln)
c.1390G>C (p.Glu464Gln)
n.478G>C
c.1387G>C (p.Glu463Gln)
c.1309G>C (p.Glu437Gln)
c.1405G>C (p.Glu469Gln)
c.*353G>C (n.*353G>C)
n.1903G>C
c.1042G>C (p.Glu348Gln)
c.1480G>C (p.Glu494Gln)
c.1393G>C (p.Glu465Gln)
c.1345G>C (p.Glu449Gln)
c.1057G>C (p.Glu353Gln)
c.1492G>C (p.Glu498Gln)
c.1477G>C (p.Glu493Gln)
8g.71215681C>TCA4779470EYA1c.1408G>A (p.Glu470Lys)
c.1306G>A (p.Glu436Lys)
c.1303G>A (p.Glu435Lys)
c.*687G>A (n.*687G>A)
c.798G>A
n.1871G>A
c.*1085G>A (n.*1085G>A)
c.1495G>A (p.Glu499Lys)
c.1390G>A (p.Glu464Lys)
n.478G>A
c.1387G>A (p.Glu463Lys)
c.1309G>A (p.Glu437Lys)
c.1405G>A (p.Glu469Lys)
c.*353G>A (n.*353G>A)
n.1903G>A
c.1042G>A (p.Glu348Lys)
c.1480G>A (p.Glu494Lys)
c.1393G>A (p.Glu465Lys)
c.1345G>A (p.Glu449Lys)
c.1057G>A (p.Glu353Lys)
c.1492G>A (p.Glu498Lys)
c.1477G>A (p.Glu493Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
8g.71215682G>ACA4779471EYA1c.1407C>T (p.Ala469=)
c.1305C>T (p.Ala435=)
c.1302C>T (p.Ala434=)
c.*686C>T (n.*686C>T)
c.797C>T
n.1870C>T
c.*1084C>T (n.*1084C>T)
c.1494C>T (p.Ala498=)
c.1389C>T (p.Ala463=)
n.477C>T
c.1386C>T (p.Ala462=)
c.1308C>T (p.Ala436=)
c.1404C>T (p.Ala468=)
c.*352C>T (n.*352C>T)
n.1902C>T
c.1041C>T (p.Ala347=)
c.1479C>T (p.Ala493=)
c.1392C>T (p.Ala464=)
c.1344C>T (p.Ala448=)
c.1056C>T (p.Ala352=)
c.1491C>T (p.Ala497=)
c.1476C>T (p.Ala492=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.71215682G>CCA461325117EYA1c.1407C>G (p.Ala469=)
c.1305C>G (p.Ala435=)
c.1302C>G (p.Ala434=)
c.*686C>G (n.*686C>G)
c.797C>G
n.1870C>G
c.*1084C>G (n.*1084C>G)
c.1494C>G (p.Ala498=)
c.1389C>G (p.Ala463=)
n.477C>G
c.1386C>G (p.Ala462=)
c.1308C>G (p.Ala436=)
c.1404C>G (p.Ala468=)
c.*352C>G (n.*352C>G)
n.1902C>G
c.1041C>G (p.Ala347=)
c.1479C>G (p.Ala493=)
c.1392C>G (p.Ala464=)
c.1344C>G (p.Ala448=)
c.1056C>G (p.Ala352=)
c.1491C>G (p.Ala497=)
c.1476C>G (p.Ala492=)
8g.71215682G=CA1792691868EYA1c.1407C= (p.Ala469=)
c.1305C= (p.Ala435=)
c.1302C= (p.Ala434=)
c.*686C= (n.*686C=)
c.797C=
n.1870C=
c.*1084C= (n.*1084C=)
c.1494C= (p.Ala498=)
c.1389C= (p.Ala463=)
n.477C=
c.1386C= (p.Ala462=)
c.1308C= (p.Ala436=)
c.1404C= (p.Ala468=)
c.*352C= (n.*352C=)
n.1902C=
c.1041C= (p.Ala347=)
c.1479C= (p.Ala493=)
c.1392C= (p.Ala464=)
c.1344C= (p.Ala448=)
c.1056C= (p.Ala352=)
c.1491C= (p.Ala497=)
c.1476C= (p.Ala492=)
8g.71215682G>TCA461325118EYA1c.1407C>A (p.Ala469=)
c.1305C>A (p.Ala435=)
c.1302C>A (p.Ala434=)
c.*686C>A (n.*686C>A)
c.797C>A
n.1870C>A
c.*1084C>A (n.*1084C>A)
c.1494C>A (p.Ala498=)
c.1389C>A (p.Ala463=)
n.477C>A
c.1386C>A (p.Ala462=)
c.1308C>A (p.Ala436=)
c.1404C>A (p.Ala468=)
c.*352C>A (n.*352C>A)
n.1902C>A
c.1041C>A (p.Ala347=)
c.1479C>A (p.Ala493=)
c.1392C>A (p.Ala464=)
c.1344C>A (p.Ala448=)
c.1056C>A (p.Ala352=)
c.1491C>A (p.Ala497=)
c.1476C>A (p.Ala492=)
8g.71215683G>ACA371466457EYA1c.1406C>T (p.Ala469Val)
c.1304C>T (p.Ala435Val)
c.1301C>T (p.Ala434Val)
c.*685C>T (n.*685C>T)
c.796C>T
n.1869C>T
c.*1083C>T (n.*1083C>T)
c.1493C>T (p.Ala498Val)
c.1388C>T (p.Ala463Val)
n.476C>T
c.1385C>T (p.Ala462Val)
c.1307C>T (p.Ala436Val)
c.1403C>T (p.Ala468Val)
c.*351C>T (n.*351C>T)
n.1901C>T
c.1040C>T (p.Ala347Val)
c.1478C>T (p.Ala493Val)
c.1391C>T (p.Ala464Val)
c.1343C>T (p.Ala448Val)
c.1055C>T (p.Ala352Val)
c.1490C>T (p.Ala497Val)
c.1475C>T (p.Ala492Val)
 COSMIC COSMIC
8g.71215683G>CCA371466458EYA1c.1406C>G (p.Ala469Gly)
c.1304C>G (p.Ala435Gly)
c.1301C>G (p.Ala434Gly)
c.*685C>G (n.*685C>G)
c.796C>G
n.1869C>G
c.*1083C>G (n.*1083C>G)
c.1493C>G (p.Ala498Gly)
c.1388C>G (p.Ala463Gly)
n.476C>G
c.1385C>G (p.Ala462Gly)
c.1307C>G (p.Ala436Gly)
c.1403C>G (p.Ala468Gly)
c.*351C>G (n.*351C>G)
n.1901C>G
c.1040C>G (p.Ala347Gly)
c.1478C>G (p.Ala493Gly)
c.1391C>G (p.Ala464Gly)
c.1343C>G (p.Ala448Gly)
c.1055C>G (p.Ala352Gly)
c.1490C>G (p.Ala497Gly)
c.1475C>G (p.Ala492Gly)
8g.71215683G>TCA371466459EYA1c.1406C>A (p.Ala469Asp)
c.1304C>A (p.Ala435Asp)
c.1301C>A (p.Ala434Asp)
c.*685C>A (n.*685C>A)
c.796C>A
n.1869C>A
c.*1083C>A (n.*1083C>A)
c.1493C>A (p.Ala498Asp)
c.1388C>A (p.Ala463Asp)
n.476C>A
c.1385C>A (p.Ala462Asp)
c.1307C>A (p.Ala436Asp)
c.1403C>A (p.Ala468Asp)
c.*351C>A (n.*351C>A)
n.1901C>A
c.1040C>A (p.Ala347Asp)
c.1478C>A (p.Ala493Asp)
c.1391C>A (p.Ala464Asp)
c.1343C>A (p.Ala448Asp)
c.1055C>A (p.Ala352Asp)
c.1490C>A (p.Ala497Asp)
c.1475C>A (p.Ala492Asp)
8g.71215684C>ACA371466460EYA1c.1405G>T (p.Ala469Ser)
c.1303G>T (p.Ala435Ser)
c.1300G>T (p.Ala434Ser)
c.*684G>T (n.*684G>T)
c.795G>T
n.1868G>T
c.*1082G>T (n.*1082G>T)
c.1492G>T (p.Ala498Ser)
c.1387G>T (p.Ala463Ser)
n.475G>T
c.1384G>T (p.Ala462Ser)
c.1306G>T (p.Ala436Ser)
c.1402G>T (p.Ala468Ser)
c.*350G>T (n.*350G>T)
n.1900G>T
c.1039G>T (p.Ala347Ser)
c.1477G>T (p.Ala493Ser)
c.1390G>T (p.Ala464Ser)
c.1342G>T (p.Ala448Ser)
c.1054G>T (p.Ala352Ser)
c.1489G>T (p.Ala497Ser)
c.1474G>T (p.Ala492Ser)
 gnomAD v4
8g.71215684C=CA1792691871EYA1c.1405G= (p.Ala469=)
c.1303G= (p.Ala435=)
c.1300G= (p.Ala434=)
c.*684G= (n.*684G=)
c.795G=
n.1868G=
c.*1082G= (n.*1082G=)
c.1492G= (p.Ala498=)
c.1387G= (p.Ala463=)
n.475G=
c.1384G= (p.Ala462=)
c.1306G= (p.Ala436=)
c.1402G= (p.Ala468=)
c.*350G= (n.*350G=)
n.1900G=
c.1039G= (p.Ala347=)
c.1477G= (p.Ala493=)
c.1390G= (p.Ala464=)
c.1342G= (p.Ala448=)
c.1054G= (p.Ala352=)
c.1489G= (p.Ala497=)
c.1474G= (p.Ala492=)
8g.71215684C>GCA371466461EYA1c.1405G>C (p.Ala469Pro)
c.1303G>C (p.Ala435Pro)
c.1300G>C (p.Ala434Pro)
c.*684G>C (n.*684G>C)
c.795G>C
n.1868G>C
c.*1082G>C (n.*1082G>C)
c.1492G>C (p.Ala498Pro)
c.1387G>C (p.Ala463Pro)
n.475G>C
c.1384G>C (p.Ala462Pro)
c.1306G>C (p.Ala436Pro)
c.1402G>C (p.Ala468Pro)
c.*350G>C (n.*350G>C)
n.1900G>C
c.1039G>C (p.Ala347Pro)
c.1477G>C (p.Ala493Pro)
c.1390G>C (p.Ala464Pro)
c.1342G>C (p.Ala448Pro)
c.1054G>C (p.Ala352Pro)
c.1489G>C (p.Ala497Pro)
c.1474G>C (p.Ala492Pro)
8g.71215684C>TCA371466462EYA1c.1405G>A (p.Ala469Thr)
c.1303G>A (p.Ala435Thr)
c.1300G>A (p.Ala434Thr)
c.*684G>A (n.*684G>A)
c.795G>A
n.1868G>A
c.*1082G>A (n.*1082G>A)
c.1492G>A (p.Ala498Thr)
c.1387G>A (p.Ala463Thr)
n.475G>A
c.1384G>A (p.Ala462Thr)
c.1306G>A (p.Ala436Thr)
c.1402G>A (p.Ala468Thr)
c.*350G>A (n.*350G>A)
n.1900G>A
c.1039G>A (p.Ala347Thr)
c.1477G>A (p.Ala493Thr)
c.1390G>A (p.Ala464Thr)
c.1342G>A (p.Ala448Thr)
c.1054G>A (p.Ala352Thr)
c.1489G>A (p.Ala497Thr)
c.1474G>A (p.Ala492Thr)
 dbSNP gnomAD v2 gnomAD v4
8g.71215686delCA2695209867EYA1c.1405del (p.Ala469ProfsTer6)
c.1303del (p.Ala435ProfsTer6)
c.1300del (p.Ala434ProfsTer6)
c.*684del (n.*684del)
c.795del
n.1868del
c.*1082del (n.*1082del)
c.1492del (p.Ala498ProfsTer6)
c.1387del (p.Ala463ProfsTer6)
n.475del
c.1384del (p.Ala462ProfsTer6)
c.1306del (p.Ala436ProfsTer6)
c.1402del (p.Ala468ProfsTer6)
c.*350del (n.*350del)
n.1900del
c.1039del (p.Ala347ProfsTer6)
c.1477del (p.Ala493ProfsTer6)
c.1390del (p.Ala464ProfsTer6)
c.1342del (p.Ala448ProfsTer6)
c.1054del (p.Ala352ProfsTer6)
c.1489del (p.Ala497ProfsTer6)
c.1474del (p.Ala492ProfsTer6)
8g.71215685C>ACA371466464EYA1c.1404G>T (p.Arg468Ser)
c.1302G>T (p.Arg434Ser)
c.1299G>T (p.Arg433Ser)
c.*683G>T (n.*683G>T)
c.794G>T
n.1867G>T
c.*1081G>T (n.*1081G>T)
c.1491G>T (p.Arg497Ser)
c.1386G>T (p.Arg462Ser)
n.474G>T
c.1383G>T (p.Arg461Ser)
c.1305G>T (p.Arg435Ser)
c.1401G>T (p.Arg467Ser)
c.*349G>T (n.*349G>T)
n.1899G>T
c.1038G>T (p.Arg346Ser)
c.1476G>T (p.Arg492Ser)
c.1389G>T (p.Arg463Ser)
c.1341G>T (p.Arg447Ser)
c.1053G>T (p.Arg351Ser)
c.1488G>T (p.Arg496Ser)
c.1473G>T (p.Arg491Ser)
8g.71215685C>GCA371466463EYA1c.1404G>C (p.Arg468Ser)
c.1302G>C (p.Arg434Ser)
c.1299G>C (p.Arg433Ser)
c.*683G>C (n.*683G>C)
c.794G>C
n.1867G>C
c.*1081G>C (n.*1081G>C)
c.1491G>C (p.Arg497Ser)
c.1386G>C (p.Arg462Ser)
n.474G>C
c.1383G>C (p.Arg461Ser)
c.1305G>C (p.Arg435Ser)
c.1401G>C (p.Arg467Ser)
c.*349G>C (n.*349G>C)
n.1899G>C
c.1038G>C (p.Arg346Ser)
c.1476G>C (p.Arg492Ser)
c.1389G>C (p.Arg463Ser)
c.1341G>C (p.Arg447Ser)
c.1053G>C (p.Arg351Ser)
c.1488G>C (p.Arg496Ser)
c.1473G>C (p.Arg491Ser)
8g.71215685C>TCA461325119EYA1c.1404G>A (p.Arg468=)
c.1302G>A (p.Arg434=)
c.1299G>A (p.Arg433=)
c.*683G>A (n.*683G>A)
c.794G>A
n.1867G>A
c.*1081G>A (n.*1081G>A)
c.1491G>A (p.Arg497=)
c.1386G>A (p.Arg462=)
n.474G>A
c.1383G>A (p.Arg461=)
c.1305G>A (p.Arg435=)
c.1401G>A (p.Arg467=)
c.*349G>A (n.*349G>A)
n.1899G>A
c.1038G>A (p.Arg346=)
c.1476G>A (p.Arg492=)
c.1389G>A (p.Arg463=)
c.1341G>A (p.Arg447=)
c.1053G>A (p.Arg351=)
c.1488G>A (p.Arg496=)
c.1473G>A (p.Arg491=)
8g.71215686C>ACA371466465EYA1c.1403G>T (p.Arg468Met)
c.1301G>T (p.Arg434Met)
c.1298G>T (p.Arg433Met)
c.*682G>T (n.*682G>T)
c.793G>T
n.1866G>T
c.*1080G>T (n.*1080G>T)
c.1490G>T (p.Arg497Met)
c.1385G>T (p.Arg462Met)
n.473G>T
c.1382G>T (p.Arg461Met)
c.1304G>T (p.Arg435Met)
c.1400G>T (p.Arg467Met)
c.*348G>T (n.*348G>T)
n.1898G>T
c.1037G>T (p.Arg346Met)
c.1475G>T (p.Arg492Met)
c.1388G>T (p.Arg463Met)
c.1340G>T (p.Arg447Met)
c.1052G>T (p.Arg351Met)
c.1487G>T (p.Arg496Met)
c.1472G>T (p.Arg491Met)
8g.71215686C=CA1792691873EYA1c.1403G= (p.Arg468=)
c.1301G= (p.Arg434=)
c.1298G= (p.Arg433=)
c.*682G= (n.*682G=)
c.793G=
n.1866G=
c.*1080G= (n.*1080G=)
c.1490G= (p.Arg497=)
c.1385G= (p.Arg462=)
n.473G=
c.1382G= (p.Arg461=)
c.1304G= (p.Arg435=)
c.1400G= (p.Arg467=)
c.*348G= (n.*348G=)
n.1898G=
c.1037G= (p.Arg346=)
c.1475G= (p.Arg492=)
c.1388G= (p.Arg463=)
c.1340G= (p.Arg447=)
c.1052G= (p.Arg351=)
c.1487G= (p.Arg496=)
c.1472G= (p.Arg491=)
8g.71215686C>GCA371466466EYA1c.1403G>C (p.Arg468Thr)
c.1301G>C (p.Arg434Thr)
c.1298G>C (p.Arg433Thr)
c.*682G>C (n.*682G>C)
c.793G>C
n.1866G>C
c.*1080G>C (n.*1080G>C)
c.1490G>C (p.Arg497Thr)
c.1385G>C (p.Arg462Thr)
n.473G>C
c.1382G>C (p.Arg461Thr)
c.1304G>C (p.Arg435Thr)
c.1400G>C (p.Arg467Thr)
c.*348G>C (n.*348G>C)
n.1898G>C
c.1037G>C (p.Arg346Thr)
c.1475G>C (p.Arg492Thr)
c.1388G>C (p.Arg463Thr)
c.1340G>C (p.Arg447Thr)
c.1052G>C (p.Arg351Thr)
c.1487G>C (p.Arg496Thr)
c.1472G>C (p.Arg491Thr)
8g.71215686C>TCA4779472EYA1c.1403G>A (p.Arg468Lys)
c.1301G>A (p.Arg434Lys)
c.1298G>A (p.Arg433Lys)
c.*682G>A (n.*682G>A)
c.793G>A
n.1866G>A
c.*1080G>A (n.*1080G>A)
c.1490G>A (p.Arg497Lys)
c.1385G>A (p.Arg462Lys)
n.473G>A
c.1382G>A (p.Arg461Lys)
c.1304G>A (p.Arg435Lys)
c.1400G>A (p.Arg467Lys)
c.*348G>A (n.*348G>A)
n.1898G>A
c.1037G>A (p.Arg346Lys)
c.1475G>A (p.Arg492Lys)
c.1388G>A (p.Arg463Lys)
c.1340G>A (p.Arg447Lys)
c.1052G>A (p.Arg351Lys)
c.1487G>A (p.Arg496Lys)
c.1472G>A (p.Arg491Lys)
 dbSNP ExAC gnomAD v2
8g.71215687T>ACA371466467EYA1c.1402A>T (p.Arg468Trp)
c.1300A>T (p.Arg434Trp)
c.1297A>T (p.Arg433Trp)
c.*681A>T (n.*681A>T)
c.792A>T
n.1865A>T
c.*1079A>T (n.*1079A>T)
c.1489A>T (p.Arg497Trp)
c.1384A>T (p.Arg462Trp)
n.472A>T
c.1381A>T (p.Arg461Trp)
c.1303A>T (p.Arg435Trp)
c.1399A>T (p.Arg467Trp)
c.*347A>T (n.*347A>T)
n.1897A>T
c.1036A>T (p.Arg346Trp)
c.1474A>T (p.Arg492Trp)
c.1387A>T (p.Arg463Trp)
c.1339A>T (p.Arg447Trp)
c.1051A>T (p.Arg351Trp)
c.1486A>T (p.Arg496Trp)
c.1471A>T (p.Arg491Trp)
 gnomAD v4
8g.71215687T>CCA176070EYA1c.1402A>G (p.Arg468Gly)
c.1300A>G (p.Arg434Gly)
c.1297A>G (p.Arg433Gly)
c.*681A>G (n.*681A>G)
c.792A>G
n.1865A>G
c.*1079A>G (n.*1079A>G)
c.1489A>G (p.Arg497Gly)
c.1384A>G (p.Arg462Gly)
n.472A>G
c.1381A>G (p.Arg461Gly)
c.1303A>G (p.Arg435Gly)
c.1399A>G (p.Arg467Gly)
c.*347A>G (n.*347A>G)
n.1897A>G
c.1036A>G (p.Arg346Gly)
c.1474A>G (p.Arg492Gly)
c.1387A>G (p.Arg463Gly)
c.1339A>G (p.Arg447Gly)
c.1051A>G (p.Arg351Gly)
c.1486A>G (p.Arg496Gly)
c.1471A>G (p.Arg491Gly)
 ClinVar dbSNP
8g.71215687T>GCA461325120EYA1c.1402A>C (p.Arg468=)
c.1300A>C (p.Arg434=)
c.1297A>C (p.Arg433=)
c.*681A>C (n.*681A>C)
c.792A>C
n.1865A>C
c.*1079A>C (n.*1079A>C)
c.1489A>C (p.Arg497=)
c.1384A>C (p.Arg462=)
n.472A>C
c.1381A>C (p.Arg461=)
c.1303A>C (p.Arg435=)
c.1399A>C (p.Arg467=)
c.*347A>C (n.*347A>C)
n.1897A>C
c.1036A>C (p.Arg346=)
c.1474A>C (p.Arg492=)
c.1387A>C (p.Arg463=)
c.1339A>C (p.Arg447=)
c.1051A>C (p.Arg351=)
c.1486A>C (p.Arg496=)
c.1471A>C (p.Arg491=)
8g.71215687T=CA1792691879EYA1c.1402A= (p.Arg468=)
c.1300A= (p.Arg434=)
c.1297A= (p.Arg433=)
c.*681A= (n.*681A=)
c.792A=
n.1865A=
c.*1079A= (n.*1079A=)
c.1489A= (p.Arg497=)
c.1384A= (p.Arg462=)
n.472A=
c.1381A= (p.Arg461=)
c.1303A= (p.Arg435=)
c.1399A= (p.Arg467=)
c.*347A= (n.*347A=)
n.1897A=
c.1036A= (p.Arg346=)
c.1474A= (p.Arg492=)
c.1387A= (p.Arg463=)
c.1339A= (p.Arg447=)
c.1051A= (p.Arg351=)
c.1486A= (p.Arg496=)
c.1471A= (p.Arg491=)
8g.71215688C>ACA371466468EYA1c.1401G>T (p.Leu467Phe)
c.1299G>T (p.Leu433Phe)
c.1296G>T (p.Leu432Phe)
c.*680G>T (n.*680G>T)
c.791G>T
n.1864G>T
c.*1078G>T (n.*1078G>T)
c.1488G>T (p.Leu496Phe)
c.1383G>T (p.Leu461Phe)
n.471G>T
c.1380G>T (p.Leu460Phe)
c.1302G>T (p.Leu434Phe)
c.1398G>T (p.Leu466Phe)
c.*346G>T (n.*346G>T)
n.1896G>T
c.1035G>T (p.Leu345Phe)
c.1473G>T (p.Leu491Phe)
c.1386G>T (p.Leu462Phe)
c.1338G>T (p.Leu446Phe)
c.1050G>T (p.Leu350Phe)
c.1485G>T (p.Leu495Phe)
c.1470G>T (p.Leu490Phe)
8g.71215688C=CA1792691884EYA1c.1401G= (p.Leu467=)
c.1299G= (p.Leu433=)
c.1296G= (p.Leu432=)
c.*680G= (n.*680G=)
c.791G=
n.1864G=
c.*1078G= (n.*1078G=)
c.1488G= (p.Leu496=)
c.1383G= (p.Leu461=)
n.471G=
c.1380G= (p.Leu460=)
c.1302G= (p.Leu434=)
c.1398G= (p.Leu466=)
c.*346G= (n.*346G=)
n.1896G=
c.1035G= (p.Leu345=)
c.1473G= (p.Leu491=)
c.1386G= (p.Leu462=)
c.1338G= (p.Leu446=)
c.1050G= (p.Leu350=)
c.1485G= (p.Leu495=)
c.1470G= (p.Leu490=)
8g.71215688C>GCA4779473EYA1c.1401G>C (p.Leu467Phe)
c.1299G>C (p.Leu433Phe)
c.1296G>C (p.Leu432Phe)
c.*680G>C (n.*680G>C)
c.791G>C
n.1864G>C
c.*1078G>C (n.*1078G>C)
c.1488G>C (p.Leu496Phe)
c.1383G>C (p.Leu461Phe)
n.471G>C
c.1380G>C (p.Leu460Phe)
c.1302G>C (p.Leu434Phe)
c.1398G>C (p.Leu466Phe)
c.*346G>C (n.*346G>C)
n.1896G>C
c.1035G>C (p.Leu345Phe)
c.1473G>C (p.Leu491Phe)
c.1386G>C (p.Leu462Phe)
c.1338G>C (p.Leu446Phe)
c.1050G>C (p.Leu350Phe)
c.1485G>C (p.Leu495Phe)
c.1470G>C (p.Leu490Phe)
 dbSNP ExAC gnomAD v2
8g.71215688C>TCA461325121EYA1c.1401G>A (p.Leu467=)
c.1299G>A (p.Leu433=)
c.1296G>A (p.Leu432=)
c.*680G>A (n.*680G>A)
c.791G>A
n.1864G>A
c.*1078G>A (n.*1078G>A)
c.1488G>A (p.Leu496=)
c.1383G>A (p.Leu461=)
n.471G>A
c.1380G>A (p.Leu460=)
c.1302G>A (p.Leu434=)
c.1398G>A (p.Leu466=)
c.*346G>A (n.*346G>A)
n.1896G>A
c.1035G>A (p.Leu345=)
c.1473G>A (p.Leu491=)
c.1386G>A (p.Leu462=)
c.1338G>A (p.Leu446=)
c.1050G>A (p.Leu350=)
c.1485G>A (p.Leu495=)
c.1470G>A (p.Leu490=)
8g.71215689A>CCA371466469EYA1c.1400T>G (p.Leu467Trp)
c.1298T>G (p.Leu433Trp)
c.1295T>G (p.Leu432Trp)
c.*679T>G (n.*679T>G)
c.790T>G
n.1863T>G
c.*1077T>G (n.*1077T>G)
c.1487T>G (p.Leu496Trp)
c.1382T>G (p.Leu461Trp)
n.470T>G
c.1379T>G (p.Leu460Trp)
c.1301T>G (p.Leu434Trp)
c.1397T>G (p.Leu466Trp)
c.*345T>G (n.*345T>G)
n.1895T>G
c.1034T>G (p.Leu345Trp)
c.1472T>G (p.Leu491Trp)
c.1385T>G (p.Leu462Trp)
c.1337T>G (p.Leu446Trp)
c.1049T>G (p.Leu350Trp)
c.1484T>G (p.Leu495Trp)
c.1469T>G (p.Leu490Trp)
8g.71215689A>GCA371466471EYA1c.1400T>C (p.Leu467Ser)
c.1298T>C (p.Leu433Ser)
c.1295T>C (p.Leu432Ser)
c.*679T>C (n.*679T>C)
c.790T>C
n.1863T>C
c.*1077T>C (n.*1077T>C)
c.1487T>C (p.Leu496Ser)
c.1382T>C (p.Leu461Ser)
n.470T>C
c.1379T>C (p.Leu460Ser)
c.1301T>C (p.Leu434Ser)
c.1397T>C (p.Leu466Ser)
c.*345T>C (n.*345T>C)
n.1895T>C
c.1034T>C (p.Leu345Ser)
c.1472T>C (p.Leu491Ser)
c.1385T>C (p.Leu462Ser)
c.1337T>C (p.Leu446Ser)
c.1049T>C (p.Leu350Ser)
c.1484T>C (p.Leu495Ser)
c.1469T>C (p.Leu490Ser)
8g.71215689A>TCA371466470EYA1c.1400T>A (p.Leu467Ter)
c.1298T>A (p.Leu433Ter)
c.1295T>A (p.Leu432Ter)
c.*679T>A (n.*679T>A)
c.790T>A
n.1863T>A
c.*1077T>A (n.*1077T>A)
c.1487T>A (p.Leu496Ter)
c.1382T>A (p.Leu461Ter)
n.470T>A
c.1379T>A (p.Leu460Ter)
c.1301T>A (p.Leu434Ter)
c.1397T>A (p.Leu466Ter)
c.*345T>A (n.*345T>A)
n.1895T>A
c.1034T>A (p.Leu345Ter)
c.1472T>A (p.Leu491Ter)
c.1385T>A (p.Leu462Ter)
c.1337T>A (p.Leu446Ter)
c.1049T>A (p.Leu350Ter)
c.1484T>A (p.Leu495Ter)
c.1469T>A (p.Leu490Ter)
8g.71215690A=CA1792691889EYA1c.1399T= (p.Leu467=)
c.1297T= (p.Leu433=)
c.1294T= (p.Leu432=)
c.*678T= (n.*678T=)
c.789T=
n.1862T=
c.*1076T= (n.*1076T=)
c.1486T= (p.Leu496=)
c.1381T= (p.Leu461=)
n.469T=
c.1378T= (p.Leu460=)
c.1300T= (p.Leu434=)
c.1396T= (p.Leu466=)
c.*344T= (n.*344T=)
n.1894T=
c.1033T= (p.Leu345=)
c.1471T= (p.Leu491=)
c.1384T= (p.Leu462=)
c.1336T= (p.Leu446=)
c.1048T= (p.Leu350=)
c.1483T= (p.Leu495=)
c.1468T= (p.Leu490=)
8g.71215690A>CCA371466472EYA1c.1399T>G (p.Leu467Val)
c.1297T>G (p.Leu433Val)
c.1294T>G (p.Leu432Val)
c.*678T>G (n.*678T>G)
c.789T>G
n.1862T>G
c.*1076T>G (n.*1076T>G)
c.1486T>G (p.Leu496Val)
c.1381T>G (p.Leu461Val)
n.469T>G
c.1378T>G (p.Leu460Val)
c.1300T>G (p.Leu434Val)
c.1396T>G (p.Leu466Val)
c.*344T>G (n.*344T>G)
n.1894T>G
c.1033T>G (p.Leu345Val)
c.1471T>G (p.Leu491Val)
c.1384T>G (p.Leu462Val)
c.1336T>G (p.Leu446Val)
c.1048T>G (p.Leu350Val)
c.1483T>G (p.Leu495Val)
c.1468T>G (p.Leu490Val)
8g.71215690A>GCA4779474EYA1c.1399T>C (p.Leu467=)
c.1297T>C (p.Leu433=)
c.1294T>C (p.Leu432=)
c.*678T>C (n.*678T>C)
c.789T>C
n.1862T>C
c.*1076T>C (n.*1076T>C)
c.1486T>C (p.Leu496=)
c.1381T>C (p.Leu461=)
n.469T>C
c.1378T>C (p.Leu460=)
c.1300T>C (p.Leu434=)
c.1396T>C (p.Leu466=)
c.*344T>C (n.*344T>C)
n.1894T>C
c.1033T>C (p.Leu345=)
c.1471T>C (p.Leu491=)
c.1384T>C (p.Leu462=)
c.1336T>C (p.Leu446=)
c.1048T>C (p.Leu350=)
c.1483T>C (p.Leu495=)
c.1468T>C (p.Leu490=)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.71215690A>TCA371466473EYA1c.1399T>A (p.Leu467Met)
c.1297T>A (p.Leu433Met)
c.1294T>A (p.Leu432Met)
c.*678T>A (n.*678T>A)
c.789T>A
n.1862T>A
c.*1076T>A (n.*1076T>A)
c.1486T>A (p.Leu496Met)
c.1381T>A (p.Leu461Met)
n.469T>A
c.1378T>A (p.Leu460Met)
c.1300T>A (p.Leu434Met)
c.1396T>A (p.Leu466Met)
c.*344T>A (n.*344T>A)
n.1894T>A
c.1033T>A (p.Leu345Met)
c.1471T>A (p.Leu491Met)
c.1384T>A (p.Leu462Met)
c.1336T>A (p.Leu446Met)
c.1048T>A (p.Leu350Met)
c.1483T>A (p.Leu495Met)
c.1468T>A (p.Leu490Met)
 gnomAD v4
8g.71215691C>ACA371466474EYA1c.1398G>T (p.Gln466His)
c.1296G>T (p.Gln432His)
c.1293G>T (p.Gln431His)
c.*677G>T (n.*677G>T)
c.788G>T
n.1861G>T
c.*1075G>T (n.*1075G>T)
c.1485G>T (p.Gln495His)
c.1380G>T (p.Gln460His)
n.468G>T
c.1377G>T (p.Gln459His)
c.1299G>T (p.Gln433His)
c.1395G>T (p.Gln465His)
c.*343G>T (n.*343G>T)
n.1893G>T
c.1032G>T (p.Gln344His)
c.1470G>T (p.Gln490His)
c.1383G>T (p.Gln461His)
c.1335G>T (p.Gln445His)
c.1047G>T (p.Gln349His)
c.1482G>T (p.Gln494His)
c.1467G>T (p.Gln489His)
8g.71215691C>GCA371466475EYA1c.1398G>C (p.Gln466His)
c.1296G>C (p.Gln432His)
c.1293G>C (p.Gln431His)
c.*677G>C (n.*677G>C)
c.788G>C
n.1861G>C
c.*1075G>C (n.*1075G>C)
c.1485G>C (p.Gln495His)
c.1380G>C (p.Gln460His)
n.468G>C
c.1377G>C (p.Gln459His)
c.1299G>C (p.Gln433His)
c.1395G>C (p.Gln465His)
c.*343G>C (n.*343G>C)
n.1893G>C
c.1032G>C (p.Gln344His)
c.1470G>C (p.Gln490His)
c.1383G>C (p.Gln461His)
c.1335G>C (p.Gln445His)
c.1047G>C (p.Gln349His)
c.1482G>C (p.Gln494His)
c.1467G>C (p.Gln489His)
 gnomAD v4
8g.71215691C>TCA461325122EYA1c.1398G>A (p.Gln466=)
c.1296G>A (p.Gln432=)
c.1293G>A (p.Gln431=)
c.*677G>A (n.*677G>A)
c.788G>A
n.1861G>A
c.*1075G>A (n.*1075G>A)
c.1485G>A (p.Gln495=)
c.1380G>A (p.Gln460=)
n.468G>A
c.1377G>A (p.Gln459=)
c.1299G>A (p.Gln433=)
c.1395G>A (p.Gln465=)
c.*343G>A (n.*343G>A)
n.1893G>A
c.1032G>A (p.Gln344=)
c.1470G>A (p.Gln490=)
c.1383G>A (p.Gln461=)
c.1335G>A (p.Gln445=)
c.1047G>A (p.Gln349=)
c.1482G>A (p.Gln494=)
c.1467G>A (p.Gln489=)
 gnomAD v4
8g.71215692T>ACA371466476EYA1c.1397A>T (p.Gln466Leu)
c.1295A>T (p.Gln432Leu)
c.1292A>T (p.Gln431Leu)
c.*676A>T (n.*676A>T)
c.787A>T
n.1860A>T
c.*1074A>T (n.*1074A>T)
c.1484A>T (p.Gln495Leu)
c.1379A>T (p.Gln460Leu)
n.467A>T
c.1376A>T (p.Gln459Leu)
c.1298A>T (p.Gln433Leu)
c.1394A>T (p.Gln465Leu)
c.*342A>T (n.*342A>T)
n.1892A>T
c.1031A>T (p.Gln344Leu)
c.1469A>T (p.Gln490Leu)
c.1382A>T (p.Gln461Leu)
c.1334A>T (p.Gln445Leu)
c.1046A>T (p.Gln349Leu)
c.1481A>T (p.Gln494Leu)
c.1466A>T (p.Gln489Leu)
8g.71215692T>CCA371466477EYA1c.1397A>G (p.Gln466Arg)
c.1295A>G (p.Gln432Arg)
c.1292A>G (p.Gln431Arg)
c.*676A>G (n.*676A>G)
c.787A>G
n.1860A>G
c.*1074A>G (n.*1074A>G)
c.1484A>G (p.Gln495Arg)
c.1379A>G (p.Gln460Arg)
n.467A>G
c.1376A>G (p.Gln459Arg)
c.1298A>G (p.Gln433Arg)
c.1394A>G (p.Gln465Arg)
c.*342A>G (n.*342A>G)
n.1892A>G
c.1031A>G (p.Gln344Arg)
c.1469A>G (p.Gln490Arg)
c.1382A>G (p.Gln461Arg)
c.1334A>G (p.Gln445Arg)
c.1046A>G (p.Gln349Arg)
c.1481A>G (p.Gln494Arg)
c.1466A>G (p.Gln489Arg)
8g.71215692T>GCA371466478EYA1c.1397A>C (p.Gln466Pro)
c.1295A>C (p.Gln432Pro)
c.1292A>C (p.Gln431Pro)
c.*676A>C (n.*676A>C)
c.787A>C
n.1860A>C
c.*1074A>C (n.*1074A>C)
c.1484A>C (p.Gln495Pro)
c.1379A>C (p.Gln460Pro)
n.467A>C
c.1376A>C (p.Gln459Pro)
c.1298A>C (p.Gln433Pro)
c.1394A>C (p.Gln465Pro)
c.*342A>C (n.*342A>C)
n.1892A>C
c.1031A>C (p.Gln344Pro)
c.1469A>C (p.Gln490Pro)
c.1382A>C (p.Gln461Pro)
c.1334A>C (p.Gln445Pro)
c.1046A>C (p.Gln349Pro)
c.1481A>C (p.Gln494Pro)
c.1466A>C (p.Gln489Pro)
 gnomAD v4
8g.71215693G>ACA371466479EYA1c.1396C>T (p.Gln466Ter)
c.1294C>T (p.Gln432Ter)
c.1291C>T (p.Gln431Ter)
c.*675C>T (n.*675C>T)
c.786C>T
n.1859C>T
c.*1073C>T (n.*1073C>T)
c.1483C>T (p.Gln495Ter)
c.1378C>T (p.Gln460Ter)
n.466C>T
c.1375C>T (p.Gln459Ter)
c.1297C>T (p.Gln433Ter)
c.1393C>T (p.Gln465Ter)
c.*341C>T (n.*341C>T)
n.1891C>T
c.1030C>T (p.Gln344Ter)
c.1468C>T (p.Gln490Ter)
c.1381C>T (p.Gln461Ter)
c.1333C>T (p.Gln445Ter)
c.1045C>T (p.Gln349Ter)
c.1480C>T (p.Gln494Ter)
c.1465C>T (p.Gln489Ter)
8g.71215693G>CCA371466480EYA1c.1396C>G (p.Gln466Glu)
c.1294C>G (p.Gln432Glu)
c.1291C>G (p.Gln431Glu)
c.*675C>G (n.*675C>G)
c.786C>G
n.1859C>G
c.*1073C>G (n.*1073C>G)
c.1483C>G (p.Gln495Glu)
c.1378C>G (p.Gln460Glu)
n.466C>G
c.1375C>G (p.Gln459Glu)
c.1297C>G (p.Gln433Glu)
c.1393C>G (p.Gln465Glu)
c.*341C>G (n.*341C>G)
n.1891C>G
c.1030C>G (p.Gln344Glu)
c.1468C>G (p.Gln490Glu)
c.1381C>G (p.Gln461Glu)
c.1333C>G (p.Gln445Glu)
c.1045C>G (p.Gln349Glu)
c.1480C>G (p.Gln494Glu)
c.1465C>G (p.Gln489Glu)
8g.71215693G>TCA371466481EYA1c.1396C>A (p.Gln466Lys)
c.1294C>A (p.Gln432Lys)
c.1291C>A (p.Gln431Lys)
c.*675C>A (n.*675C>A)
c.786C>A
n.1859C>A
c.*1073C>A (n.*1073C>A)
c.1483C>A (p.Gln495Lys)
c.1378C>A (p.Gln460Lys)
n.466C>A
c.1375C>A (p.Gln459Lys)
c.1297C>A (p.Gln433Lys)
c.1393C>A (p.Gln465Lys)
c.*341C>A (n.*341C>A)
n.1891C>A
c.1030C>A (p.Gln344Lys)
c.1468C>A (p.Gln490Lys)
c.1381C>A (p.Gln461Lys)
c.1333C>A (p.Gln445Lys)
c.1045C>A (p.Gln349Lys)
c.1480C>A (p.Gln494Lys)
c.1465C>A (p.Gln489Lys)
 COSMIC COSMIC
8g.71215694C>ACA461325123EYA1c.1395G>T (p.Leu465=)
c.1293G>T (p.Leu431=)
c.1290G>T (p.Leu430=)
c.*674G>T (n.*674G>T)
c.785G>T
n.1858G>T
c.*1072G>T (n.*1072G>T)
c.1482G>T (p.Leu494=)
c.1377G>T (p.Leu459=)
n.465G>T
c.1374G>T (p.Leu458=)
c.1296G>T (p.Leu432=)
c.1392G>T (p.Leu464=)
c.*340G>T (n.*340G>T)
n.1890G>T
c.1029G>T (p.Leu343=)
c.1467G>T (p.Leu489=)
c.1380G>T (p.Leu460=)
c.1332G>T (p.Leu444=)
c.1044G>T (p.Leu348=)
c.1479G>T (p.Leu493=)
c.1464G>T (p.Leu488=)
 COSMIC COSMIC
8g.71215694C>GCA461325124EYA1c.1395G>C (p.Leu465=)
c.1293G>C (p.Leu431=)
c.1290G>C (p.Leu430=)
c.*674G>C (n.*674G>C)
c.785G>C
n.1858G>C
c.*1072G>C (n.*1072G>C)
c.1482G>C (p.Leu494=)
c.1377G>C (p.Leu459=)
n.465G>C
c.1374G>C (p.Leu458=)
c.1296G>C (p.Leu432=)
c.1392G>C (p.Leu464=)
c.*340G>C (n.*340G>C)
n.1890G>C
c.1029G>C (p.Leu343=)
c.1467G>C (p.Leu489=)
c.1380G>C (p.Leu460=)
c.1332G>C (p.Leu444=)
c.1044G>C (p.Leu348=)
c.1479G>C (p.Leu493=)
c.1464G>C (p.Leu488=)
8g.71215694C>TCA461325125EYA1c.1395G>A (p.Leu465=)
c.1293G>A (p.Leu431=)
c.1290G>A (p.Leu430=)
c.*674G>A (n.*674G>A)
c.785G>A
n.1858G>A
c.*1072G>A (n.*1072G>A)
c.1482G>A (p.Leu494=)
c.1377G>A (p.Leu459=)
n.465G>A
c.1374G>A (p.Leu458=)
c.1296G>A (p.Leu432=)
c.1392G>A (p.Leu464=)
c.*340G>A (n.*340G>A)
n.1890G>A
c.1029G>A (p.Leu343=)
c.1467G>A (p.Leu489=)
c.1380G>A (p.Leu460=)
c.1332G>A (p.Leu444=)
c.1044G>A (p.Leu348=)
c.1479G>A (p.Leu493=)
c.1464G>A (p.Leu488=)
8g.71215695A>CCA371466484EYA1c.1394T>G (p.Leu465Arg)
c.1292T>G (p.Leu431Arg)
c.1289T>G (p.Leu430Arg)
c.*673T>G (n.*673T>G)
c.784T>G
n.1857T>G
c.*1071T>G (n.*1071T>G)
c.1481T>G (p.Leu494Arg)
c.1376T>G (p.Leu459Arg)
n.464T>G
c.1373T>G (p.Leu458Arg)
c.1295T>G (p.Leu432Arg)
c.1391T>G (p.Leu464Arg)
c.*339T>G (n.*339T>G)
n.1889T>G
c.1028T>G (p.Leu343Arg)
c.1466T>G (p.Leu489Arg)
c.1379T>G (p.Leu460Arg)
c.1331T>G (p.Leu444Arg)
c.1043T>G (p.Leu348Arg)
c.1478T>G (p.Leu493Arg)
c.1463T>G (p.Leu488Arg)
8g.71215695A>GCA371466482EYA1c.1394T>C (p.Leu465Pro)
c.1292T>C (p.Leu431Pro)
c.1289T>C (p.Leu430Pro)
c.*673T>C (n.*673T>C)
c.784T>C
n.1857T>C
c.*1071T>C (n.*1071T>C)
c.1481T>C (p.Leu494Pro)
c.1376T>C (p.Leu459Pro)
n.464T>C
c.1373T>C (p.Leu458Pro)
c.1295T>C (p.Leu432Pro)
c.1391T>C (p.Leu464Pro)
c.*339T>C (n.*339T>C)
n.1889T>C
c.1028T>C (p.Leu343Pro)
c.1466T>C (p.Leu489Pro)
c.1379T>C (p.Leu460Pro)
c.1331T>C (p.Leu444Pro)
c.1043T>C (p.Leu348Pro)
c.1478T>C (p.Leu493Pro)
c.1463T>C (p.Leu488Pro)
 gnomAD v4
8g.71215695A>TCA371466483EYA1c.1394T>A (p.Leu465Gln)
c.1292T>A (p.Leu431Gln)
c.1289T>A (p.Leu430Gln)
c.*673T>A (n.*673T>A)
c.784T>A
n.1857T>A
c.*1071T>A (n.*1071T>A)
c.1481T>A (p.Leu494Gln)
c.1376T>A (p.Leu459Gln)
n.464T>A
c.1373T>A (p.Leu458Gln)
c.1295T>A (p.Leu432Gln)
c.1391T>A (p.Leu464Gln)
c.*339T>A (n.*339T>A)
n.1889T>A
c.1028T>A (p.Leu343Gln)
c.1466T>A (p.Leu489Gln)
c.1379T>A (p.Leu460Gln)
c.1331T>A (p.Leu444Gln)
c.1043T>A (p.Leu348Gln)
c.1478T>A (p.Leu493Gln)
c.1463T>A (p.Leu488Gln)
8g.71215696G>ACA461325126EYA1c.1393C>T (p.Leu465=)
c.1291C>T (p.Leu431=)
c.1288C>T (p.Leu430=)
c.*672C>T (n.*672C>T)
c.783C>T
n.1856C>T
c.*1070C>T (n.*1070C>T)
c.1480C>T (p.Leu494=)
c.1375C>T (p.Leu459=)
n.463C>T
c.1372C>T (p.Leu458=)
c.1294C>T (p.Leu432=)
c.1390C>T (p.Leu464=)
c.*338C>T (n.*338C>T)
n.1888C>T
c.1027C>T (p.Leu343=)
c.1465C>T (p.Leu489=)
c.1378C>T (p.Leu460=)
c.1330C>T (p.Leu444=)
c.1042C>T (p.Leu348=)
c.1477C>T (p.Leu493=)
c.1462C>T (p.Leu488=)
8g.71215696G>CCA371466485EYA1c.1393C>G (p.Leu465Val)
c.1291C>G (p.Leu431Val)
c.1288C>G (p.Leu430Val)
c.*672C>G (n.*672C>G)
c.783C>G
n.1856C>G
c.*1070C>G (n.*1070C>G)
c.1480C>G (p.Leu494Val)
c.1375C>G (p.Leu459Val)
n.463C>G
c.1372C>G (p.Leu458Val)
c.1294C>G (p.Leu432Val)
c.1390C>G (p.Leu464Val)
c.*338C>G (n.*338C>G)
n.1888C>G
c.1027C>G (p.Leu343Val)
c.1465C>G (p.Leu489Val)
c.1378C>G (p.Leu460Val)
c.1330C>G (p.Leu444Val)
c.1042C>G (p.Leu348Val)
c.1477C>G (p.Leu493Val)
c.1462C>G (p.Leu488Val)
8g.71215696G>TCA371466486EYA1c.1393C>A (p.Leu465Met)
c.1291C>A (p.Leu431Met)
c.1288C>A (p.Leu430Met)
c.*672C>A (n.*672C>A)
c.783C>A
n.1856C>A
c.*1070C>A (n.*1070C>A)
c.1480C>A (p.Leu494Met)
c.1375C>A (p.Leu459Met)
n.463C>A
c.1372C>A (p.Leu458Met)
c.1294C>A (p.Leu432Met)
c.1390C>A (p.Leu464Met)
c.*338C>A (n.*338C>A)
n.1888C>A
c.1027C>A (p.Leu343Met)
c.1465C>A (p.Leu489Met)
c.1378C>A (p.Leu460Met)
c.1330C>A (p.Leu444Met)
c.1042C>A (p.Leu348Met)
c.1477C>A (p.Leu493Met)
c.1462C>A (p.Leu488Met)
8g.71215697C>ACA371466487EYA1c.1392G>T (p.Trp464Cys)
c.1290G>T (p.Trp430Cys)
c.1287G>T (p.Trp429Cys)
c.*671G>T (n.*671G>T)
c.782G>T
n.1855G>T
c.*1069G>T (n.*1069G>T)
c.1479G>T (p.Trp493Cys)
c.1374G>T (p.Trp458Cys)
n.462G>T
c.1371G>T (p.Trp457Cys)
c.1293G>T (p.Trp431Cys)
c.1389G>T (p.Trp463Cys)
c.*337G>T (n.*337G>T)
n.1887G>T
c.1026G>T (p.Trp342Cys)
c.1464G>T (p.Trp488Cys)
c.1377G>T (p.Trp459Cys)
c.1329G>T (p.Trp443Cys)
c.1041G>T (p.Trp347Cys)
c.1476G>T (p.Trp492Cys)
c.1461G>T (p.Trp487Cys)
8g.71215697C>GCA371466488EYA1c.1392G>C (p.Trp464Cys)
c.1290G>C (p.Trp430Cys)
c.1287G>C (p.Trp429Cys)
c.*671G>C (n.*671G>C)
c.782G>C
n.1855G>C
c.*1069G>C (n.*1069G>C)
c.1479G>C (p.Trp493Cys)
c.1374G>C (p.Trp458Cys)
n.462G>C
c.1371G>C (p.Trp457Cys)
c.1293G>C (p.Trp431Cys)
c.1389G>C (p.Trp463Cys)
c.*337G>C (n.*337G>C)
n.1887G>C
c.1026G>C (p.Trp342Cys)
c.1464G>C (p.Trp488Cys)
c.1377G>C (p.Trp459Cys)
c.1329G>C (p.Trp443Cys)
c.1041G>C (p.Trp347Cys)
c.1476G>C (p.Trp492Cys)
c.1461G>C (p.Trp487Cys)
8g.71215697C>TCA371466489EYA1c.1392G>A (p.Trp464Ter)
c.1290G>A (p.Trp430Ter)
c.1287G>A (p.Trp429Ter)
c.*671G>A (n.*671G>A)
c.782G>A
n.1855G>A
c.*1069G>A (n.*1069G>A)
c.1479G>A (p.Trp493Ter)
c.1374G>A (p.Trp458Ter)
n.462G>A
c.1371G>A (p.Trp457Ter)
c.1293G>A (p.Trp431Ter)
c.1389G>A (p.Trp463Ter)
c.*337G>A (n.*337G>A)
n.1887G>A
c.1026G>A (p.Trp342Ter)
c.1464G>A (p.Trp488Ter)
c.1377G>A (p.Trp459Ter)
c.1329G>A (p.Trp443Ter)
c.1041G>A (p.Trp347Ter)
c.1476G>A (p.Trp492Ter)
c.1461G>A (p.Trp487Ter)
8g.71215698C>ACA371466490EYA1c.1391G>T (p.Trp464Leu)
c.1289G>T (p.Trp430Leu)
c.1286G>T (p.Trp429Leu)
c.*670G>T (n.*670G>T)
c.781G>T
n.1854G>T
c.*1068G>T (n.*1068G>T)
c.1478G>T (p.Trp493Leu)
c.1373G>T (p.Trp458Leu)
n.461G>T
c.1370G>T (p.Trp457Leu)
c.1292G>T (p.Trp431Leu)
c.1388G>T (p.Trp463Leu)
c.*336G>T (n.*336G>T)
n.1886G>T
c.1025G>T (p.Trp342Leu)
c.1463G>T (p.Trp488Leu)
c.1376G>T (p.Trp459Leu)
c.1328G>T (p.Trp443Leu)
c.1040G>T (p.Trp347Leu)
c.1475G>T (p.Trp492Leu)
c.1460G>T (p.Trp487Leu)
8g.71215698C>GCA371466491EYA1c.1391G>C (p.Trp464Ser)
c.1289G>C (p.Trp430Ser)
c.1286G>C (p.Trp429Ser)
c.*670G>C (n.*670G>C)
c.781G>C
n.1854G>C
c.*1068G>C (n.*1068G>C)
c.1478G>C (p.Trp493Ser)
c.1373G>C (p.Trp458Ser)
n.461G>C
c.1370G>C (p.Trp457Ser)
c.1292G>C (p.Trp431Ser)
c.1388G>C (p.Trp463Ser)
c.*336G>C (n.*336G>C)
n.1886G>C
c.1025G>C (p.Trp342Ser)
c.1463G>C (p.Trp488Ser)
c.1376G>C (p.Trp459Ser)
c.1328G>C (p.Trp443Ser)
c.1040G>C (p.Trp347Ser)
c.1475G>C (p.Trp492Ser)
c.1460G>C (p.Trp487Ser)
8g.71215698C>TCA371466492EYA1c.1391G>A (p.Trp464Ter)
c.1289G>A (p.Trp430Ter)
c.1286G>A (p.Trp429Ter)
c.*670G>A (n.*670G>A)
c.781G>A
n.1854G>A
c.*1068G>A (n.*1068G>A)
c.1478G>A (p.Trp493Ter)
c.1373G>A (p.Trp458Ter)
n.461G>A
c.1370G>A (p.Trp457Ter)
c.1292G>A (p.Trp431Ter)
c.1388G>A (p.Trp463Ter)
c.*336G>A (n.*336G>A)
n.1886G>A
c.1025G>A (p.Trp342Ter)
c.1463G>A (p.Trp488Ter)
c.1376G>A (p.Trp459Ter)
c.1328G>A (p.Trp443Ter)
c.1040G>A (p.Trp347Ter)
c.1475G>A (p.Trp492Ter)
c.1460G>A (p.Trp487Ter)
8g.71215699A>CCA371466493EYA1c.1390T>G (p.Trp464Gly)
c.1288T>G (p.Trp430Gly)
c.1285T>G (p.Trp429Gly)
c.*669T>G (n.*669T>G)
c.780T>G
n.1853T>G
c.*1067T>G (n.*1067T>G)
c.1477T>G (p.Trp493Gly)
c.1372T>G (p.Trp458Gly)
n.460T>G
c.1369T>G (p.Trp457Gly)
c.1291T>G (p.Trp431Gly)
c.1387T>G (p.Trp463Gly)
c.*335T>G (n.*335T>G)
n.1885T>G
c.1024T>G (p.Trp342Gly)
c.1462T>G (p.Trp488Gly)
c.1375T>G (p.Trp459Gly)
c.1327T>G (p.Trp443Gly)
c.1039T>G (p.Trp347Gly)
c.1474T>G (p.Trp492Gly)
c.1459T>G (p.Trp487Gly)
8g.71215699A>GCA371466494EYA1c.1390T>C (p.Trp464Arg)
c.1288T>C (p.Trp430Arg)
c.1285T>C (p.Trp429Arg)
c.*669T>C (n.*669T>C)
c.780T>C
n.1853T>C
c.*1067T>C (n.*1067T>C)
c.1477T>C (p.Trp493Arg)
c.1372T>C (p.Trp458Arg)
n.460T>C
c.1369T>C (p.Trp457Arg)
c.1291T>C (p.Trp431Arg)
c.1387T>C (p.Trp463Arg)
c.*335T>C (n.*335T>C)
n.1885T>C
c.1024T>C (p.Trp342Arg)
c.1462T>C (p.Trp488Arg)
c.1375T>C (p.Trp459Arg)
c.1327T>C (p.Trp443Arg)
c.1039T>C (p.Trp347Arg)
c.1474T>C (p.Trp492Arg)
c.1459T>C (p.Trp487Arg)
8g.71215699A>TCA371466495EYA1c.1390T>A (p.Trp464Arg)
c.1288T>A (p.Trp430Arg)
c.1285T>A (p.Trp429Arg)
c.*669T>A (n.*669T>A)
c.780T>A
n.1853T>A
c.*1067T>A (n.*1067T>A)
c.1477T>A (p.Trp493Arg)
c.1372T>A (p.Trp458Arg)
n.460T>A
c.1369T>A (p.Trp457Arg)
c.1291T>A (p.Trp431Arg)
c.1387T>A (p.Trp463Arg)
c.*335T>A (n.*335T>A)
n.1885T>A
c.1024T>A (p.Trp342Arg)
c.1462T>A (p.Trp488Arg)
c.1375T>A (p.Trp459Arg)
c.1327T>A (p.Trp443Arg)
c.1039T>A (p.Trp347Arg)
c.1474T>A (p.Trp492Arg)
c.1459T>A (p.Trp487Arg)
8g.71215700G>ACA461325127EYA1c.1389C>T (p.Ala463=)
c.1287C>T (p.Ala429=)
c.1284C>T (p.Ala428=)
c.*668C>T (n.*668C>T)
c.779C>T
n.1852C>T
c.*1066C>T (n.*1066C>T)
c.1476C>T (p.Ala492=)
c.1371C>T (p.Ala457=)
n.459C>T
c.1368C>T (p.Ala456=)
c.1290C>T (p.Ala430=)
c.1386C>T (p.Ala462=)
c.*334C>T (n.*334C>T)
n.1884C>T
c.1023C>T (p.Ala341=)
c.1461C>T (p.Ala487=)
c.1374C>T (p.Ala458=)
c.1326C>T (p.Ala442=)
c.1038C>T (p.Ala346=)
c.1473C>T (p.Ala491=)
c.1458C>T (p.Ala486=)
 gnomAD v4 COSMIC COSMIC
8g.71215700G>CCA461325128EYA1c.1389C>G (p.Ala463=)
c.1287C>G (p.Ala429=)
c.1284C>G (p.Ala428=)
c.*668C>G (n.*668C>G)
c.779C>G
n.1852C>G
c.*1066C>G (n.*1066C>G)
c.1476C>G (p.Ala492=)
c.1371C>G (p.Ala457=)
n.459C>G
c.1368C>G (p.Ala456=)
c.1290C>G (p.Ala430=)
c.1386C>G (p.Ala462=)
c.*334C>G (n.*334C>G)
n.1884C>G
c.1023C>G (p.Ala341=)
c.1461C>G (p.Ala487=)
c.1374C>G (p.Ala458=)
c.1326C>G (p.Ala442=)
c.1038C>G (p.Ala346=)
c.1473C>G (p.Ala491=)
c.1458C>G (p.Ala486=)
8g.71215700G>TCA461325129EYA1c.1389C>A (p.Ala463=)
c.1287C>A (p.Ala429=)
c.1284C>A (p.Ala428=)
c.*668C>A (n.*668C>A)
c.779C>A
n.1852C>A
c.*1066C>A (n.*1066C>A)
c.1476C>A (p.Ala492=)
c.1371C>A (p.Ala457=)
n.459C>A
c.1368C>A (p.Ala456=)
c.1290C>A (p.Ala430=)
c.1386C>A (p.Ala462=)
c.*334C>A (n.*334C>A)
n.1884C>A
c.1023C>A (p.Ala341=)
c.1461C>A (p.Ala487=)
c.1374C>A (p.Ala458=)
c.1326C>A (p.Ala442=)
c.1038C>A (p.Ala346=)
c.1473C>A (p.Ala491=)
c.1458C>A (p.Ala486=)
8g.71215701G>ACA371466497EYA1c.1388C>T (p.Ala463Val)
c.1286C>T (p.Ala429Val)
c.1283C>T (p.Ala428Val)
c.*667C>T (n.*667C>T)
c.778C>T
n.1851C>T
c.*1065C>T (n.*1065C>T)
c.1475C>T (p.Ala492Val)
c.1370C>T (p.Ala457Val)
n.458C>T
c.1367C>T (p.Ala456Val)
c.1289C>T (p.Ala430Val)
c.1385C>T (p.Ala462Val)
c.*333C>T (n.*333C>T)
n.1883C>T
c.1022C>T (p.Ala341Val)
c.1460C>T (p.Ala487Val)
c.1373C>T (p.Ala458Val)
c.1325C>T (p.Ala442Val)
c.1037C>T (p.Ala346Val)
c.1472C>T (p.Ala491Val)
c.1457C>T (p.Ala486Val)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
8g.71215701G>CCA371466498EYA1c.1388C>G (p.Ala463Gly)
c.1286C>G (p.Ala429Gly)
c.1283C>G (p.Ala428Gly)
c.*667C>G (n.*667C>G)
c.778C>G
n.1851C>G
c.*1065C>G (n.*1065C>G)
c.1475C>G (p.Ala492Gly)
c.1370C>G (p.Ala457Gly)
n.458C>G
c.1367C>G (p.Ala456Gly)
c.1289C>G (p.Ala430Gly)
c.1385C>G (p.Ala462Gly)
c.*333C>G (n.*333C>G)
n.1883C>G
c.1022C>G (p.Ala341Gly)
c.1460C>G (p.Ala487Gly)
c.1373C>G (p.Ala458Gly)
c.1325C>G (p.Ala442Gly)
c.1037C>G (p.Ala346Gly)
c.1472C>G (p.Ala491Gly)
c.1457C>G (p.Ala486Gly)
8g.71215701G=CA1792691892EYA1c.1388C= (p.Ala463=)
c.1286C= (p.Ala429=)
c.1283C= (p.Ala428=)
c.*667C= (n.*667C=)
c.778C=
n.1851C=
c.*1065C= (n.*1065C=)
c.1475C= (p.Ala492=)
c.1370C= (p.Ala457=)
n.458C=
c.1367C= (p.Ala456=)
c.1289C= (p.Ala430=)
c.1385C= (p.Ala462=)
c.*333C= (n.*333C=)
n.1883C=
c.1022C= (p.Ala341=)
c.1460C= (p.Ala487=)
c.1373C= (p.Ala458=)
c.1325C= (p.Ala442=)
c.1037C= (p.Ala346=)
c.1472C= (p.Ala491=)
c.1457C= (p.Ala486=)
8g.71215701G>TCA371466496EYA1c.1388C>A (p.Ala463Asp)
c.1286C>A (p.Ala429Asp)
c.1283C>A (p.Ala428Asp)
c.*667C>A (n.*667C>A)
c.778C>A
n.1851C>A
c.*1065C>A (n.*1065C>A)
c.1475C>A (p.Ala492Asp)
c.1370C>A (p.Ala457Asp)
n.458C>A
c.1367C>A (p.Ala456Asp)
c.1289C>A (p.Ala430Asp)
c.1385C>A (p.Ala462Asp)
c.*333C>A (n.*333C>A)
n.1883C>A
c.1022C>A (p.Ala341Asp)
c.1460C>A (p.Ala487Asp)
c.1373C>A (p.Ala458Asp)
c.1325C>A (p.Ala442Asp)
c.1037C>A (p.Ala346Asp)
c.1472C>A (p.Ala491Asp)
c.1457C>A (p.Ala486Asp)
8g.71215702C>ACA371466499EYA1c.1387G>T (p.Ala463Ser)
c.1285G>T (p.Ala429Ser)
c.1282G>T (p.Ala428Ser)
c.*666G>T (n.*666G>T)
c.777G>T
n.1850G>T
c.*1064G>T (n.*1064G>T)
c.1474G>T (p.Ala492Ser)
c.1369G>T (p.Ala457Ser)
n.457G>T
c.1366G>T (p.Ala456Ser)
c.1288G>T (p.Ala430Ser)
c.1384G>T (p.Ala462Ser)
c.*332G>T (n.*332G>T)
n.1882G>T
c.1021G>T (p.Ala341Ser)
c.1459G>T (p.Ala487Ser)
c.1372G>T (p.Ala458Ser)
c.1324G>T (p.Ala442Ser)
c.1036G>T (p.Ala346Ser)
c.1471G>T (p.Ala491Ser)
c.1456G>T (p.Ala486Ser)
8g.71215702C=CA1792691895EYA1c.1387G= (p.Ala463=)
c.1285G= (p.Ala429=)
c.1282G= (p.Ala428=)
c.*666G= (n.*666G=)
c.777G=
n.1850G=
c.*1064G= (n.*1064G=)
c.1474G= (p.Ala492=)
c.1369G= (p.Ala457=)
n.457G=
c.1366G= (p.Ala456=)
c.1288G= (p.Ala430=)
c.1384G= (p.Ala462=)
c.*332G= (n.*332G=)
n.1882G=
c.1021G= (p.Ala341=)
c.1459G= (p.Ala487=)
c.1372G= (p.Ala458=)
c.1324G= (p.Ala442=)
c.1036G= (p.Ala346=)
c.1471G= (p.Ala491=)
c.1456G= (p.Ala486=)
8g.71215702C>GCA371466500EYA1c.1387G>C (p.Ala463Pro)
c.1285G>C (p.Ala429Pro)
c.1282G>C (p.Ala428Pro)
c.*666G>C (n.*666G>C)
c.777G>C
n.1850G>C
c.*1064G>C (n.*1064G>C)
c.1474G>C (p.Ala492Pro)
c.1369G>C (p.Ala457Pro)
n.457G>C
c.1366G>C (p.Ala456Pro)
c.1288G>C (p.Ala430Pro)
c.1384G>C (p.Ala462Pro)
c.*332G>C (n.*332G>C)
n.1882G>C
c.1021G>C (p.Ala341Pro)
c.1459G>C (p.Ala487Pro)
c.1372G>C (p.Ala458Pro)
c.1324G>C (p.Ala442Pro)
c.1036G>C (p.Ala346Pro)
c.1471G>C (p.Ala491Pro)
c.1456G>C (p.Ala486Pro)
8g.71215702C>TCA371466501EYA1c.1387G>A (p.Ala463Thr)
c.1285G>A (p.Ala429Thr)
c.1282G>A (p.Ala428Thr)
c.*666G>A (n.*666G>A)
c.777G>A
n.1850G>A
c.*1064G>A (n.*1064G>A)
c.1474G>A (p.Ala492Thr)
c.1369G>A (p.Ala457Thr)
n.457G>A
c.1366G>A (p.Ala456Thr)
c.1288G>A (p.Ala430Thr)
c.1384G>A (p.Ala462Thr)
c.*332G>A (n.*332G>A)
n.1882G>A
c.1021G>A (p.Ala341Thr)
c.1459G>A (p.Ala487Thr)
c.1372G>A (p.Ala458Thr)
c.1324G>A (p.Ala442Thr)
c.1036G>A (p.Ala346Thr)
c.1471G>A (p.Ala491Thr)
c.1456G>A (p.Ala486Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.71215705_71215711dupCA2580078930EYA1c.1381_1387dup (p.Ala463GlufsTer12)
c.1279_1285dup (p.Ala429GlufsTer12)
c.1276_1282dup (p.Ala428GlufsTer12)
c.*660_*666dup (n.*660_*666dup)
c.771_777dup
n.1844_1850dup
c.*1058_*1064dup (n.*1058_*1064dup)
c.1468_1474dup (p.Ala492GlufsTer12)
c.1363_1369dup (p.Ala457GlufsTer12)
n.451_457dup
c.1360_1366dup (p.Ala456GlufsTer12)
c.1282_1288dup (p.Ala430GlufsTer12)
c.1378_1384dup (p.Ala462GlufsTer12)
c.*326_*332dup (n.*326_*332dup)
n.1876_1882dup
c.1015_1021dup (p.Ala341GlufsTer12)
c.1453_1459dup (p.Ala487GlufsTer12)
c.1366_1372dup (p.Ala458GlufsTer12)
c.1318_1324dup (p.Ala442GlufsTer12)
c.1030_1036dup (p.Ala346GlufsTer12)
c.1465_1471dup (p.Ala491GlufsTer12)
c.1450_1456dup (p.Ala486GlufsTer12)
 ClinVar dbSNP
8g.71215703T>ACA179209502EYA1c.1386A>T (p.Glu462Asp)
c.1284A>T (p.Glu428Asp)
c.1281A>T (p.Glu427Asp)
c.*665A>T (n.*665A>T)
c.776A>T
n.1849A>T
c.*1063A>T (n.*1063A>T)
c.1473A>T (p.Glu491Asp)
c.1368A>T (p.Glu456Asp)
n.456A>T
c.1365A>T (p.Glu455Asp)
c.1287A>T (p.Glu429Asp)
c.1383A>T (p.Glu461Asp)
c.*331A>T (n.*331A>T)
n.1881A>T
c.1020A>T (p.Glu340Asp)
c.1458A>T (p.Glu486Asp)
c.1371A>T (p.Glu457Asp)
c.1323A>T (p.Glu441Asp)
c.1035A>T (p.Glu345Asp)
c.1470A>T (p.Glu490Asp)
c.1455A>T (p.Glu485Asp)
 dbSNP
8g.71215703T>CCA461325130EYA1c.1386A>G (p.Glu462=)
c.1284A>G (p.Glu428=)
c.1281A>G (p.Glu427=)
c.*665A>G (n.*665A>G)
c.776A>G
n.1849A>G
c.*1063A>G (n.*1063A>G)
c.1473A>G (p.Glu491=)
c.1368A>G (p.Glu456=)
n.456A>G
c.1365A>G (p.Glu455=)
c.1287A>G (p.Glu429=)
c.1383A>G (p.Glu461=)
c.*331A>G (n.*331A>G)
n.1881A>G
c.1020A>G (p.Glu340=)
c.1458A>G (p.Glu486=)
c.1371A>G (p.Glu457=)
c.1323A>G (p.Glu441=)
c.1035A>G (p.Glu345=)
c.1470A>G (p.Glu490=)
c.1455A>G (p.Glu485=)
8g.71215703T>GCA371466502EYA1c.1386A>C (p.Glu462Asp)
c.1284A>C (p.Glu428Asp)
c.1281A>C (p.Glu427Asp)
c.*665A>C (n.*665A>C)
c.776A>C
n.1849A>C
c.*1063A>C (n.*1063A>C)
c.1473A>C (p.Glu491Asp)
c.1368A>C (p.Glu456Asp)
n.456A>C
c.1365A>C (p.Glu455Asp)
c.1287A>C (p.Glu429Asp)
c.1383A>C (p.Glu461Asp)
c.*331A>C (n.*331A>C)
n.1881A>C
c.1020A>C (p.Glu340Asp)
c.1458A>C (p.Glu486Asp)
c.1371A>C (p.Glu457Asp)
c.1323A>C (p.Glu441Asp)
c.1035A>C (p.Glu345Asp)
c.1470A>C (p.Glu490Asp)
c.1455A>C (p.Glu485Asp)
 gnomAD v4 COSMIC COSMIC
8g.71215703T=CA1792691898EYA1c.1386A= (p.Glu462=)
c.1284A= (p.Glu428=)
c.1281A= (p.Glu427=)
c.*665A= (n.*665A=)
c.776A=
n.1849A=
c.*1063A= (n.*1063A=)
c.1473A= (p.Glu491=)
c.1368A= (p.Glu456=)
n.456A=
c.1365A= (p.Glu455=)
c.1287A= (p.Glu429=)
c.1383A= (p.Glu461=)
c.*331A= (n.*331A=)
n.1881A=
c.1020A= (p.Glu340=)
c.1458A= (p.Glu486=)
c.1371A= (p.Glu457=)
c.1323A= (p.Glu441=)
c.1035A= (p.Glu345=)
c.1470A= (p.Glu490=)
c.1455A= (p.Glu485=)
8g.71215704T>ACA371466505EYA1c.1385A>T (p.Glu462Val)
c.1283A>T (p.Glu428Val)
c.1280A>T (p.Glu427Val)
c.*664A>T (n.*664A>T)
c.775A>T
n.1848A>T
c.*1062A>T (n.*1062A>T)
c.1472A>T (p.Glu491Val)
c.1367A>T (p.Glu456Val)
n.455A>T
c.1364A>T (p.Glu455Val)
c.1286A>T (p.Glu429Val)
c.1382A>T (p.Glu461Val)
c.*330A>T (n.*330A>T)
n.1880A>T
c.1019A>T (p.Glu340Val)
c.1457A>T (p.Glu486Val)
c.1370A>T (p.Glu457Val)
c.1322A>T (p.Glu441Val)
c.1034A>T (p.Glu345Val)
c.1469A>T (p.Glu490Val)
c.1454A>T (p.Glu485Val)
8g.71215704T>CCA371466504EYA1c.1385A>G (p.Glu462Gly)
c.1283A>G (p.Glu428Gly)
c.1280A>G (p.Glu427Gly)
c.*664A>G (n.*664A>G)
c.775A>G
n.1848A>G
c.*1062A>G (n.*1062A>G)
c.1472A>G (p.Glu491Gly)
c.1367A>G (p.Glu456Gly)
n.455A>G
c.1364A>G (p.Glu455Gly)
c.1286A>G (p.Glu429Gly)
c.1382A>G (p.Glu461Gly)
c.*330A>G (n.*330A>G)
n.1880A>G
c.1019A>G (p.Glu340Gly)
c.1457A>G (p.Glu486Gly)
c.1370A>G (p.Glu457Gly)
c.1322A>G (p.Glu441Gly)
c.1034A>G (p.Glu345Gly)
c.1469A>G (p.Glu490Gly)
c.1454A>G (p.Glu485Gly)
8g.71215704T>GCA371466503EYA1c.1385A>C (p.Glu462Ala)
c.1283A>C (p.Glu428Ala)
c.1280A>C (p.Glu427Ala)
c.*664A>C (n.*664A>C)
c.775A>C
n.1848A>C
c.*1062A>C (n.*1062A>C)
c.1472A>C (p.Glu491Ala)
c.1367A>C (p.Glu456Ala)
n.455A>C
c.1364A>C (p.Glu455Ala)
c.1286A>C (p.Glu429Ala)
c.1382A>C (p.Glu461Ala)
c.*330A>C (n.*330A>C)
n.1880A>C
c.1019A>C (p.Glu340Ala)
c.1457A>C (p.Glu486Ala)
c.1370A>C (p.Glu457Ala)
c.1322A>C (p.Glu441Ala)
c.1034A>C (p.Glu345Ala)
c.1469A>C (p.Glu490Ala)
c.1454A>C (p.Glu485Ala)
8g.71215705C>ACA371466506EYA1c.1384G>T (p.Glu462Ter)
c.1282G>T (p.Glu428Ter)
c.1279G>T (p.Glu427Ter)
c.*663G>T (n.*663G>T)
c.774G>T
n.1847G>T
c.*1061G>T (n.*1061G>T)
c.1471G>T (p.Glu491Ter)
c.1366G>T (p.Glu456Ter)
n.454G>T
c.1363G>T (p.Glu455Ter)
c.1285G>T (p.Glu429Ter)
c.1381G>T (p.Glu461Ter)
c.*329G>T (n.*329G>T)
n.1879G>T
c.1018G>T (p.Glu340Ter)
c.1456G>T (p.Glu486Ter)
c.1369G>T (p.Glu457Ter)
c.1321G>T (p.Glu441Ter)
c.1033G>T (p.Glu345Ter)
c.1468G>T (p.Glu490Ter)
c.1453G>T (p.Glu485Ter)
8g.71215705C=CA1792691902EYA1c.1384G= (p.Glu462=)
c.1282G= (p.Glu428=)
c.1279G= (p.Glu427=)
c.*663G= (n.*663G=)
c.774G=
n.1847G=
c.*1061G= (n.*1061G=)
c.1471G= (p.Glu491=)
c.1366G= (p.Glu456=)
n.454G=
c.1363G= (p.Glu455=)
c.1285G= (p.Glu429=)
c.1381G= (p.Glu461=)
c.*329G= (n.*329G=)
n.1879G=
c.1018G= (p.Glu340=)
c.1456G= (p.Glu486=)
c.1369G= (p.Glu457=)
c.1321G= (p.Glu441=)
c.1033G= (p.Glu345=)
c.1468G= (p.Glu490=)
c.1453G= (p.Glu485=)
8g.71215705C>GCA371466507EYA1c.1384G>C (p.Glu462Gln)
c.1282G>C (p.Glu428Gln)
c.1279G>C (p.Glu427Gln)
c.*663G>C (n.*663G>C)
c.774G>C
n.1847G>C
c.*1061G>C (n.*1061G>C)
c.1471G>C (p.Glu491Gln)
c.1366G>C (p.Glu456Gln)
n.454G>C
c.1363G>C (p.Glu455Gln)
c.1285G>C (p.Glu429Gln)
c.1381G>C (p.Glu461Gln)
c.*329G>C (n.*329G>C)
n.1879G>C
c.1018G>C (p.Glu340Gln)
c.1456G>C (p.Glu486Gln)
c.1369G>C (p.Glu457Gln)
c.1321G>C (p.Glu441Gln)
c.1033G>C (p.Glu345Gln)
c.1468G>C (p.Glu490Gln)
c.1453G>C (p.Glu485Gln)
8g.71215705C>TCA4779475EYA1c.1384G>A (p.Glu462Lys)
c.1282G>A (p.Glu428Lys)
c.1279G>A (p.Glu427Lys)
c.*663G>A (n.*663G>A)
c.774G>A
n.1847G>A
c.*1061G>A (n.*1061G>A)
c.1471G>A (p.Glu491Lys)
c.1366G>A (p.Glu456Lys)
n.454G>A
c.1363G>A (p.Glu455Lys)
c.1285G>A (p.Glu429Lys)
c.1381G>A (p.Glu461Lys)
c.*329G>A (n.*329G>A)
n.1879G>A
c.1018G>A (p.Glu340Lys)
c.1456G>A (p.Glu486Lys)
c.1369G>A (p.Glu457Lys)
c.1321G>A (p.Glu441Lys)
c.1033G>A (p.Glu345Lys)
c.1468G>A (p.Glu490Lys)
c.1453G>A (p.Glu485Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
8g.71215706C>ACA371466508EYA1c.1383G>T (p.Arg461Ser)
c.1281G>T (p.Arg427Ser)
c.1278G>T (p.Arg426Ser)
c.*662G>T (n.*662G>T)
c.773G>T
n.1846G>T
c.*1060G>T (n.*1060G>T)
c.1470G>T (p.Arg490Ser)
c.1365G>T (p.Arg455Ser)
n.453G>T
c.1362G>T (p.Arg454Ser)
c.1284G>T (p.Arg428Ser)
c.1380G>T (p.Arg460Ser)
c.*328G>T (n.*328G>T)
n.1878G>T
c.1017G>T (p.Arg339Ser)
c.1455G>T (p.Arg485Ser)
c.1368G>T (p.Arg456Ser)
c.1320G>T (p.Arg440Ser)
c.1032G>T (p.Arg344Ser)
c.1467G>T (p.Arg489Ser)
c.1452G>T (p.Arg484Ser)
8g.71215706C=CA1792691907EYA1c.1383G= (p.Arg461=)
c.1281G= (p.Arg427=)
c.1278G= (p.Arg426=)
c.*662G= (n.*662G=)
c.773G=
n.1846G=
c.*1060G= (n.*1060G=)
c.1470G= (p.Arg490=)
c.1365G= (p.Arg455=)
n.453G=
c.1362G= (p.Arg454=)
c.1284G= (p.Arg428=)
c.1380G= (p.Arg460=)
c.*328G= (n.*328G=)
n.1878G=
c.1017G= (p.Arg339=)
c.1455G= (p.Arg485=)
c.1368G= (p.Arg456=)
c.1320G= (p.Arg440=)
c.1032G= (p.Arg344=)
c.1467G= (p.Arg489=)
c.1452G= (p.Arg484=)
8g.71215706C>GCA371466509EYA1c.1383G>C (p.Arg461Ser)
c.1281G>C (p.Arg427Ser)
c.1278G>C (p.Arg426Ser)
c.*662G>C (n.*662G>C)
c.773G>C
n.1846G>C
c.*1060G>C (n.*1060G>C)
c.1470G>C (p.Arg490Ser)
c.1365G>C (p.Arg455Ser)
n.453G>C
c.1362G>C (p.Arg454Ser)
c.1284G>C (p.Arg428Ser)
c.1380G>C (p.Arg460Ser)
c.*328G>C (n.*328G>C)
n.1878G>C
c.1017G>C (p.Arg339Ser)
c.1455G>C (p.Arg485Ser)
c.1368G>C (p.Arg456Ser)
c.1320G>C (p.Arg440Ser)
c.1032G>C (p.Arg344Ser)
c.1467G>C (p.Arg489Ser)
c.1452G>C (p.Arg484Ser)
8g.71215706C>TCA4779476EYA1c.1383G>A (p.Arg461=)
c.1281G>A (p.Arg427=)
c.1278G>A (p.Arg426=)
c.*662G>A (n.*662G>A)
c.773G>A
n.1846G>A
c.*1060G>A (n.*1060G>A)
c.1470G>A (p.Arg490=)
c.1365G>A (p.Arg455=)
n.453G>A
c.1362G>A (p.Arg454=)
c.1284G>A (p.Arg428=)
c.1380G>A (p.Arg460=)
c.*328G>A (n.*328G>A)
n.1878G>A
c.1017G>A (p.Arg339=)
c.1455G>A (p.Arg485=)
c.1368G>A (p.Arg456=)
c.1320G>A (p.Arg440=)
c.1032G>A (p.Arg344=)
c.1467G>A (p.Arg489=)
c.1452G>A (p.Arg484=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.71215707C>ACA371466510EYA1c.1382G>T (p.Arg461Met)
c.1280G>T (p.Arg427Met)
c.1277G>T (p.Arg426Met)
c.*661G>T (n.*661G>T)
c.772G>T
n.1845G>T
c.*1059G>T (n.*1059G>T)
c.1469G>T (p.Arg490Met)
c.1364G>T (p.Arg455Met)
n.452G>T
c.1361G>T (p.Arg454Met)
c.1283G>T (p.Arg428Met)
c.1379G>T (p.Arg460Met)
c.*327G>T (n.*327G>T)
n.1877G>T
c.1016G>T (p.Arg339Met)
c.1454G>T (p.Arg485Met)
c.1367G>T (p.Arg456Met)
c.1319G>T (p.Arg440Met)
c.1031G>T (p.Arg344Met)
c.1466G>T (p.Arg489Met)
c.1451G>T (p.Arg484Met)
8g.71215707C=CA1792691912EYA1c.1382G= (p.Arg461=)
c.1280G= (p.Arg427=)
c.1277G= (p.Arg426=)
c.*661G= (n.*661G=)
c.772G=
n.1845G=
c.*1059G= (n.*1059G=)
c.1469G= (p.Arg490=)
c.1364G= (p.Arg455=)
n.452G=
c.1361G= (p.Arg454=)
c.1283G= (p.Arg428=)
c.1379G= (p.Arg460=)
c.*327G= (n.*327G=)
n.1877G=
c.1016G= (p.Arg339=)
c.1454G= (p.Arg485=)
c.1367G= (p.Arg456=)
c.1319G= (p.Arg440=)
c.1031G= (p.Arg344=)
c.1466G= (p.Arg489=)
c.1451G= (p.Arg484=)
8g.71215707C>GCA371466512EYA1c.1382G>C (p.Arg461Thr)
c.1280G>C (p.Arg427Thr)
c.1277G>C (p.Arg426Thr)
c.*661G>C (n.*661G>C)
c.772G>C
n.1845G>C
c.*1059G>C (n.*1059G>C)
c.1469G>C (p.Arg490Thr)
c.1364G>C (p.Arg455Thr)
n.452G>C
c.1361G>C (p.Arg454Thr)
c.1283G>C (p.Arg428Thr)
c.1379G>C (p.Arg460Thr)
c.*327G>C (n.*327G>C)
n.1877G>C
c.1016G>C (p.Arg339Thr)
c.1454G>C (p.Arg485Thr)
c.1367G>C (p.Arg456Thr)
c.1319G>C (p.Arg440Thr)
c.1031G>C (p.Arg344Thr)
c.1466G>C (p.Arg489Thr)
c.1451G>C (p.Arg484Thr)
8g.71215707C>TCA371466511EYA1c.1382G>A (p.Arg461Lys)
c.1280G>A (p.Arg427Lys)
c.1277G>A (p.Arg426Lys)
c.*661G>A (n.*661G>A)
c.772G>A
n.1845G>A
c.*1059G>A (n.*1059G>A)
c.1469G>A (p.Arg490Lys)
c.1364G>A (p.Arg455Lys)
n.452G>A
c.1361G>A (p.Arg454Lys)
c.1283G>A (p.Arg428Lys)
c.1379G>A (p.Arg460Lys)
c.*327G>A (n.*327G>A)
n.1877G>A
c.1016G>A (p.Arg339Lys)
c.1454G>A (p.Arg485Lys)
c.1367G>A (p.Arg456Lys)
c.1319G>A (p.Arg440Lys)
c.1031G>A (p.Arg344Lys)
c.1466G>A (p.Arg489Lys)
c.1451G>A (p.Arg484Lys)
 dbSNP COSMIC
8g.71215708delCA2695209868EYA1c.1381del (p.Arg461GlyfsTer7)
c.1279del (p.Arg427GlyfsTer7)
c.1276del (p.Arg426GlyfsTer7)
c.*660del (n.*660del)
c.771del
n.1844del
c.*1058del (n.*1058del)
c.1468del (p.Arg490GlyfsTer7)
c.1363del (p.Arg455GlyfsTer7)
n.451del
c.1360del (p.Arg454GlyfsTer7)
c.1282del (p.Arg428GlyfsTer7)
c.1378del (p.Arg460GlyfsTer7)
c.*326del (n.*326del)
n.1876del
c.1015del (p.Arg339GlyfsTer7)
c.1453del (p.Arg485GlyfsTer7)
c.1366del (p.Arg456GlyfsTer7)
c.1318del (p.Arg440GlyfsTer7)
c.1030del (p.Arg344GlyfsTer7)
c.1465del (p.Arg489GlyfsTer7)
c.1450del (p.Arg484GlyfsTer7)
8g.71215708T>ACA371466513EYA1c.1381A>T (p.Arg461Trp)
c.1279A>T (p.Arg427Trp)
c.1276A>T (p.Arg426Trp)
c.*660A>T (n.*660A>T)
c.771A>T
n.1844A>T
c.*1058A>T (n.*1058A>T)
c.1468A>T (p.Arg490Trp)
c.1363A>T (p.Arg455Trp)
n.451A>T
c.1360A>T (p.Arg454Trp)
c.1282A>T (p.Arg428Trp)
c.1378A>T (p.Arg460Trp)
c.*326A>T (n.*326A>T)
n.1876A>T
c.1015A>T (p.Arg339Trp)
c.1453A>T (p.Arg485Trp)
c.1366A>T (p.Arg456Trp)
c.1318A>T (p.Arg440Trp)
c.1030A>T (p.Arg344Trp)
c.1465A>T (p.Arg489Trp)
c.1450A>T (p.Arg484Trp)
8g.71215708T>CCA371466514EYA1c.1381A>G (p.Arg461Gly)
c.1279A>G (p.Arg427Gly)
c.1276A>G (p.Arg426Gly)
c.*660A>G (n.*660A>G)
c.771A>G
n.1844A>G
c.*1058A>G (n.*1058A>G)
c.1468A>G (p.Arg490Gly)
c.1363A>G (p.Arg455Gly)
n.451A>G
c.1360A>G (p.Arg454Gly)
c.1282A>G (p.Arg428Gly)
c.1378A>G (p.Arg460Gly)
c.*326A>G (n.*326A>G)
n.1876A>G
c.1015A>G (p.Arg339Gly)
c.1453A>G (p.Arg485Gly)
c.1366A>G (p.Arg456Gly)
c.1318A>G (p.Arg440Gly)
c.1030A>G (p.Arg344Gly)
c.1465A>G (p.Arg489Gly)
c.1450A>G (p.Arg484Gly)
8g.71215708T>GCA461325131EYA1c.1381A>C (p.Arg461=)
c.1279A>C (p.Arg427=)
c.1276A>C (p.Arg426=)
c.*660A>C (n.*660A>C)
c.771A>C
n.1844A>C
c.*1058A>C (n.*1058A>C)
c.1468A>C (p.Arg490=)
c.1363A>C (p.Arg455=)
n.451A>C
c.1360A>C (p.Arg454=)
c.1282A>C (p.Arg428=)
c.1378A>C (p.Arg460=)
c.*326A>C (n.*326A>C)
n.1876A>C
c.1015A>C (p.Arg339=)
c.1453A>C (p.Arg485=)
c.1366A>C (p.Arg456=)
c.1318A>C (p.Arg440=)
c.1030A>C (p.Arg344=)
c.1465A>C (p.Arg489=)
c.1450A>C (p.Arg484=)
 dbSNP COSMIC COSMIC
8g.71215708T=CA1792691918EYA1c.1381A= (p.Arg461=)
c.1279A= (p.Arg427=)
c.1276A= (p.Arg426=)
c.*660A= (n.*660A=)
c.771A=
n.1844A=
c.*1058A= (n.*1058A=)
c.1468A= (p.Arg490=)
c.1363A= (p.Arg455=)
n.451A=
c.1360A= (p.Arg454=)
c.1282A= (p.Arg428=)
c.1378A= (p.Arg460=)
c.*326A= (n.*326A=)
n.1876A=
c.1015A= (p.Arg339=)
c.1453A= (p.Arg485=)
c.1366A= (p.Arg456=)
c.1318A= (p.Arg440=)
c.1030A= (p.Arg344=)
c.1465A= (p.Arg489=)
c.1450A= (p.Arg484=)
8g.71215709C>ACA371466515EYA1c.1380G>T (p.Lys460Asn)
c.1278G>T (p.Lys426Asn)
c.1275G>T (p.Lys425Asn)
c.*659G>T (n.*659G>T)
c.770G>T
n.1843G>T
c.*1057G>T (n.*1057G>T)
c.1467G>T (p.Lys489Asn)
c.1362G>T (p.Lys454Asn)
n.450G>T
c.1359G>T (p.Lys453Asn)
c.1281G>T (p.Lys427Asn)
c.1377G>T (p.Lys459Asn)
c.*325G>T (n.*325G>T)
n.1875G>T
c.1014G>T (p.Lys338Asn)
c.1452G>T (p.Lys484Asn)
c.1365G>T (p.Lys455Asn)
c.1317G>T (p.Lys439Asn)
c.1029G>T (p.Lys343Asn)
c.1464G>T (p.Lys488Asn)
c.1449G>T (p.Lys483Asn)
8g.71215709C=CA1792691924EYA1c.1380G= (p.Lys460=)
c.1278G= (p.Lys426=)
c.1275G= (p.Lys425=)
c.*659G= (n.*659G=)
c.770G=
n.1843G=
c.*1057G= (n.*1057G=)
c.1467G= (p.Lys489=)
c.1362G= (p.Lys454=)
n.450G=
c.1359G= (p.Lys453=)
c.1281G= (p.Lys427=)
c.1377G= (p.Lys459=)
c.*325G= (n.*325G=)
n.1875G=
c.1014G= (p.Lys338=)
c.1452G= (p.Lys484=)
c.1365G= (p.Lys455=)
c.1317G= (p.Lys439=)
c.1029G= (p.Lys343=)
c.1464G= (p.Lys488=)
c.1449G= (p.Lys483=)
8g.71215709C>GCA371466516EYA1c.1380G>C (p.Lys460Asn)
c.1278G>C (p.Lys426Asn)
c.1275G>C (p.Lys425Asn)
c.*659G>C (n.*659G>C)
c.770G>C
n.1843G>C
c.*1057G>C (n.*1057G>C)
c.1467G>C (p.Lys489Asn)
c.1362G>C (p.Lys454Asn)
n.450G>C
c.1359G>C (p.Lys453Asn)
c.1281G>C (p.Lys427Asn)
c.1377G>C (p.Lys459Asn)
c.*325G>C (n.*325G>C)
n.1875G>C
c.1014G>C (p.Lys338Asn)
c.1452G>C (p.Lys484Asn)
c.1365G>C (p.Lys455Asn)
c.1317G>C (p.Lys439Asn)
c.1029G>C (p.Lys343Asn)
c.1464G>C (p.Lys488Asn)
c.1449G>C (p.Lys483Asn)
 dbSNP
8g.71215709C>TCA461325132EYA1c.1380G>A (p.Lys460=)
c.1278G>A (p.Lys426=)
c.1275G>A (p.Lys425=)
c.*659G>A (n.*659G>A)
c.770G>A
n.1843G>A
c.*1057G>A (n.*1057G>A)
c.1467G>A (p.Lys489=)
c.1362G>A (p.Lys454=)
n.450G>A
c.1359G>A (p.Lys453=)
c.1281G>A (p.Lys427=)
c.1377G>A (p.Lys459=)
c.*325G>A (n.*325G>A)
n.1875G>A
c.1014G>A (p.Lys338=)
c.1452G>A (p.Lys484=)
c.1365G>A (p.Lys455=)
c.1317G>A (p.Lys439=)
c.1029G>A (p.Lys343=)
c.1464G>A (p.Lys488=)
c.1449G>A (p.Lys483=)
 dbSNP
8g.71215710T>ACA371466517EYA1c.1379A>T (p.Lys460Met)
c.1277A>T (p.Lys426Met)
c.1274A>T (p.Lys425Met)
c.*658A>T (n.*658A>T)
c.769A>T
n.1842A>T
c.*1056A>T (n.*1056A>T)
c.1466A>T (p.Lys489Met)
c.1361A>T (p.Lys454Met)
n.449A>T
c.1358A>T (p.Lys453Met)
c.1280A>T (p.Lys427Met)
c.1376A>T (p.Lys459Met)
c.*324A>T (n.*324A>T)
n.1874A>T
c.1013A>T (p.Lys338Met)
c.1451A>T (p.Lys484Met)
c.1364A>T (p.Lys455Met)
c.1316A>T (p.Lys439Met)
c.1028A>T (p.Lys343Met)
c.1463A>T (p.Lys488Met)
c.1448A>T (p.Lys483Met)
8g.71215710T>CCA371466518EYA1c.1379A>G (p.Lys460Arg)
c.1277A>G (p.Lys426Arg)
c.1274A>G (p.Lys425Arg)
c.*658A>G (n.*658A>G)
c.769A>G
n.1842A>G
c.*1056A>G (n.*1056A>G)
c.1466A>G (p.Lys489Arg)
c.1361A>G (p.Lys454Arg)
n.449A>G
c.1358A>G (p.Lys453Arg)
c.1280A>G (p.Lys427Arg)
c.1376A>G (p.Lys459Arg)
c.*324A>G (n.*324A>G)
n.1874A>G
c.1013A>G (p.Lys338Arg)
c.1451A>G (p.Lys484Arg)
c.1364A>G (p.Lys455Arg)
c.1316A>G (p.Lys439Arg)
c.1028A>G (p.Lys343Arg)
c.1463A>G (p.Lys488Arg)
c.1448A>G (p.Lys483Arg)
8g.71215710T>GCA371466519EYA1c.1379A>C (p.Lys460Thr)
c.1277A>C (p.Lys426Thr)
c.1274A>C (p.Lys425Thr)
c.*658A>C (n.*658A>C)
c.769A>C
n.1842A>C
c.*1056A>C (n.*1056A>C)
c.1466A>C (p.Lys489Thr)
c.1361A>C (p.Lys454Thr)
n.449A>C
c.1358A>C (p.Lys453Thr)
c.1280A>C (p.Lys427Thr)
c.1376A>C (p.Lys459Thr)
c.*324A>C (n.*324A>C)
n.1874A>C
c.1013A>C (p.Lys338Thr)
c.1451A>C (p.Lys484Thr)
c.1364A>C (p.Lys455Thr)
c.1316A>C (p.Lys439Thr)
c.1028A>C (p.Lys343Thr)
c.1463A>C (p.Lys488Thr)
c.1448A>C (p.Lys483Thr)
8g.71215711T>ACA371466520EYA1c.1378A>T (p.Lys460Ter)
c.1276A>T (p.Lys426Ter)
c.1273A>T (p.Lys425Ter)
c.*657A>T (n.*657A>T)
c.768A>T
n.1841A>T
c.*1055A>T (n.*1055A>T)
c.1465A>T (p.Lys489Ter)
c.1360A>T (p.Lys454Ter)
n.448A>T
c.1357A>T (p.Lys453Ter)
c.1279A>T (p.Lys427Ter)
c.1375A>T (p.Lys459Ter)
c.*323A>T (n.*323A>T)
n.1873A>T
c.1012A>T (p.Lys338Ter)
c.1450A>T (p.Lys484Ter)
c.1363A>T (p.Lys455Ter)
c.1315A>T (p.Lys439Ter)
c.1027A>T (p.Lys343Ter)
c.1462A>T (p.Lys488Ter)
c.1447A>T (p.Lys483Ter)
8g.71215711T>CCA371466521EYA1c.1378A>G (p.Lys460Glu)
c.1276A>G (p.Lys426Glu)
c.1273A>G (p.Lys425Glu)
c.*657A>G (n.*657A>G)
c.768A>G
n.1841A>G
c.*1055A>G (n.*1055A>G)
c.1465A>G (p.Lys489Glu)
c.1360A>G (p.Lys454Glu)
n.448A>G
c.1357A>G (p.Lys453Glu)
c.1279A>G (p.Lys427Glu)
c.1375A>G (p.Lys459Glu)
c.*323A>G (n.*323A>G)
n.1873A>G
c.1012A>G (p.Lys338Glu)
c.1450A>G (p.Lys484Glu)
c.1363A>G (p.Lys455Glu)
c.1315A>G (p.Lys439Glu)
c.1027A>G (p.Lys343Glu)
c.1462A>G (p.Lys488Glu)
c.1447A>G (p.Lys483Glu)
8g.71215711T>GCA371466522EYA1c.1378A>C (p.Lys460Gln)
c.1276A>C (p.Lys426Gln)
c.1273A>C (p.Lys425Gln)
c.*657A>C (n.*657A>C)
c.768A>C
n.1841A>C
c.*1055A>C (n.*1055A>C)
c.1465A>C (p.Lys489Gln)
c.1360A>C (p.Lys454Gln)
n.448A>C
c.1357A>C (p.Lys453Gln)
c.1279A>C (p.Lys427Gln)
c.1375A>C (p.Lys459Gln)
c.*323A>C (n.*323A>C)
n.1873A>C
c.1012A>C (p.Lys338Gln)
c.1450A>C (p.Lys484Gln)
c.1363A>C (p.Lys455Gln)
c.1315A>C (p.Lys439Gln)
c.1027A>C (p.Lys343Gln)
c.1462A>C (p.Lys488Gln)
c.1447A>C (p.Lys483Gln)
8g.71215711_71215712delinsATCA2695209869EYA1c.1377_1378delinsAT (p.Ala460Ter)
c.1275_1276delinsAT (p.Ala426Ter)
c.1272_1273delinsAT (p.Ala425Ter)
c.*656_*657delinsAT (n.*656_*657delinsAT)
c.767_768delinsAT
n.1840_1841delinsAT
c.*1054_*1055delinsAT (n.*1054_*1055delinsAT)
c.1464_1465delinsAT (p.Ala489Ter)
c.1359_1360delinsAT (p.Ala454Ter)
n.447_448delinsAT
c.1356_1357delinsAT (p.Ala453Ter)
c.1278_1279delinsAT (p.Ala427Ter)
c.1374_1375delinsAT (p.Ala459Ter)
c.*322_*323delinsAT (n.*322_*323delinsAT)
n.1872_1873delinsAT
c.1011_1012delinsAT (p.Ala338Ter)
c.1449_1450delinsAT (p.Ala484Ter)
c.1362_1363delinsAT (p.Ala455Ter)
c.1314_1315delinsAT (p.Ala439Ter)
c.1026_1027delinsAT (p.Ala343Ter)
c.1461_1462delinsAT (p.Ala488Ter)
c.1446_1447delinsAT (p.Ala483Ter)
8g.71215712A=CA1792691930EYA1c.1377T= (p.Ala459=)
c.1275T= (p.Ala425=)
c.1272T= (p.Ala424=)
c.*656T= (n.*656T=)
c.767T=
n.1840T=
c.*1054T= (n.*1054T=)
c.1464T= (p.Ala488=)
c.1359T= (p.Ala453=)
n.447T=
c.1356T= (p.Ala452=)
c.1278T= (p.Ala426=)
c.1374T= (p.Ala458=)
c.*322T= (n.*322T=)
n.1872T=
c.1011T= (p.Ala337=)
c.1449T= (p.Ala483=)
c.1362T= (p.Ala454=)
c.1314T= (p.Ala438=)
c.1026T= (p.Ala342=)
c.1461T= (p.Ala487=)
c.1446T= (p.Ala482=)
8g.71215712A>CCA461325134EYA1c.1377T>G (p.Ala459=)
c.1275T>G (p.Ala425=)
c.1272T>G (p.Ala424=)
c.*656T>G (n.*656T>G)
c.767T>G
n.1840T>G
c.*1054T>G (n.*1054T>G)
c.1464T>G (p.Ala488=)
c.1359T>G (p.Ala453=)
n.447T>G
c.1356T>G (p.Ala452=)
c.1278T>G (p.Ala426=)
c.1374T>G (p.Ala458=)
c.*322T>G (n.*322T>G)
n.1872T>G
c.1011T>G (p.Ala337=)
c.1449T>G (p.Ala483=)
c.1362T>G (p.Ala454=)
c.1314T>G (p.Ala438=)
c.1026T>G (p.Ala342=)
c.1461T>G (p.Ala487=)
c.1446T>G (p.Ala482=)
8g.71215712A>GCA461325135EYA1c.1377T>C (p.Ala459=)
c.1275T>C (p.Ala425=)
c.1272T>C (p.Ala424=)
c.*656T>C (n.*656T>C)
c.767T>C
n.1840T>C
c.*1054T>C (n.*1054T>C)
c.1464T>C (p.Ala488=)
c.1359T>C (p.Ala453=)
n.447T>C
c.1356T>C (p.Ala452=)
c.1278T>C (p.Ala426=)
c.1374T>C (p.Ala458=)
c.*322T>C (n.*322T>C)
n.1872T>C
c.1011T>C (p.Ala337=)
c.1449T>C (p.Ala483=)
c.1362T>C (p.Ala454=)
c.1314T>C (p.Ala438=)
c.1026T>C (p.Ala342=)
c.1461T>C (p.Ala487=)
c.1446T>C (p.Ala482=)
 gnomAD v4
8g.71215712A>TCA4779477EYA1c.1377T>A (p.Ala459=)
c.1275T>A (p.Ala425=)
c.1272T>A (p.Ala424=)
c.*656T>A (n.*656T>A)
c.767T>A
n.1840T>A
c.*1054T>A (n.*1054T>A)
c.1464T>A (p.Ala488=)
c.1359T>A (p.Ala453=)
n.447T>A
c.1356T>A (p.Ala452=)
c.1278T>A (p.Ala426=)
c.1374T>A (p.Ala458=)
c.*322T>A (n.*322T>A)
n.1872T>A
c.1011T>A (p.Ala337=)
c.1449T>A (p.Ala483=)
c.1362T>A (p.Ala454=)
c.1314T>A (p.Ala438=)
c.1026T>A (p.Ala342=)
c.1461T>A (p.Ala487=)
c.1446T>A (p.Ala482=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.71215713G>ACA371466525EYA1c.1376C>T (p.Ala459Val)
c.1274C>T (p.Ala425Val)
c.1271C>T (p.Ala424Val)
c.*655C>T (n.*655C>T)
c.766C>T
n.1839C>T
c.*1053C>T (n.*1053C>T)
c.1463C>T (p.Ala488Val)
c.1358C>T (p.Ala453Val)
n.446C>T
c.1355C>T (p.Ala452Val)
c.1277C>T (p.Ala426Val)
c.1373C>T (p.Ala458Val)
c.*321C>T (n.*321C>T)
n.1871C>T
c.1010C>T (p.Ala337Val)
c.1448C>T (p.Ala483Val)
c.1361C>T (p.Ala454Val)
c.1313C>T (p.Ala438Val)
c.1025C>T (p.Ala342Val)
c.1460C>T (p.Ala487Val)
c.1445C>T (p.Ala482Val)
8g.71215713G>CCA371466524EYA1c.1376C>G (p.Ala459Gly)
c.1274C>G (p.Ala425Gly)
c.1271C>G (p.Ala424Gly)
c.*655C>G (n.*655C>G)
c.766C>G
n.1839C>G
c.*1053C>G (n.*1053C>G)
c.1463C>G (p.Ala488Gly)
c.1358C>G (p.Ala453Gly)
n.446C>G
c.1355C>G (p.Ala452Gly)
c.1277C>G (p.Ala426Gly)
c.1373C>G (p.Ala458Gly)
c.*321C>G (n.*321C>G)
n.1871C>G
c.1010C>G (p.Ala337Gly)
c.1448C>G (p.Ala483Gly)
c.1361C>G (p.Ala454Gly)
c.1313C>G (p.Ala438Gly)
c.1025C>G (p.Ala342Gly)
c.1460C>G (p.Ala487Gly)
c.1445C>G (p.Ala482Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.71215713G=CA1792691937EYA1c.1376C= (p.Ala459=)
c.1274C= (p.Ala425=)
c.1271C= (p.Ala424=)
c.*655C= (n.*655C=)
c.766C=
n.1839C=
c.*1053C= (n.*1053C=)
c.1463C= (p.Ala488=)
c.1358C= (p.Ala453=)
n.446C=
c.1355C= (p.Ala452=)
c.1277C= (p.Ala426=)
c.1373C= (p.Ala458=)
c.*321C= (n.*321C=)
n.1871C=
c.1010C= (p.Ala337=)
c.1448C= (p.Ala483=)
c.1361C= (p.Ala454=)
c.1313C= (p.Ala438=)
c.1025C= (p.Ala342=)
c.1460C= (p.Ala487=)
c.1445C= (p.Ala482=)
8g.71215713G>TCA371466523EYA1c.1376C>A (p.Ala459Asp)
c.1274C>A (p.Ala425Asp)
c.1271C>A (p.Ala424Asp)
c.*655C>A (n.*655C>A)
c.766C>A
n.1839C>A
c.*1053C>A (n.*1053C>A)
c.1463C>A (p.Ala488Asp)
c.1358C>A (p.Ala453Asp)
n.446C>A
c.1355C>A (p.Ala452Asp)
c.1277C>A (p.Ala426Asp)
c.1373C>A (p.Ala458Asp)
c.*321C>A (n.*321C>A)
n.1871C>A
c.1010C>A (p.Ala337Asp)
c.1448C>A (p.Ala483Asp)
c.1361C>A (p.Ala454Asp)
c.1313C>A (p.Ala438Asp)
c.1025C>A (p.Ala342Asp)
c.1460C>A (p.Ala487Asp)
c.1445C>A (p.Ala482Asp)
8g.71215714C>ACA371466526EYA1c.1375G>T (p.Ala459Ser)
c.1273G>T (p.Ala425Ser)
c.1270G>T (p.Ala424Ser)
c.*654G>T (n.*654G>T)
c.765G>T
n.1838G>T
c.*1052G>T (n.*1052G>T)
c.1462G>T (p.Ala488Ser)
c.1357G>T (p.Ala453Ser)
n.445G>T
c.1354G>T (p.Ala452Ser)
c.1276G>T (p.Ala426Ser)
c.1372G>T (p.Ala458Ser)
c.*320G>T (n.*320G>T)
n.1870G>T
c.1009G>T (p.Ala337Ser)
c.1447G>T (p.Ala483Ser)
c.1360G>T (p.Ala454Ser)
c.1312G>T (p.Ala438Ser)
c.1024G>T (p.Ala342Ser)
c.1459G>T (p.Ala487Ser)
c.1444G>T (p.Ala482Ser)
8g.71215714C>GCA371466527EYA1c.1375G>C (p.Ala459Pro)
c.1273G>C (p.Ala425Pro)
c.1270G>C (p.Ala424Pro)
c.*654G>C (n.*654G>C)
c.765G>C
n.1838G>C
c.*1052G>C (n.*1052G>C)
c.1462G>C (p.Ala488Pro)
c.1357G>C (p.Ala453Pro)
n.445G>C
c.1354G>C (p.Ala452Pro)
c.1276G>C (p.Ala426Pro)
c.1372G>C (p.Ala458Pro)
c.*320G>C (n.*320G>C)
n.1870G>C
c.1009G>C (p.Ala337Pro)
c.1447G>C (p.Ala483Pro)
c.1360G>C (p.Ala454Pro)
c.1312G>C (p.Ala438Pro)
c.1024G>C (p.Ala342Pro)
c.1459G>C (p.Ala487Pro)
c.1444G>C (p.Ala482Pro)
 gnomAD v4 COSMIC COSMIC
8g.71215714C>TCA371466528EYA1c.1375G>A (p.Ala459Thr)
c.1273G>A (p.Ala425Thr)
c.1270G>A (p.Ala424Thr)
c.*654G>A (n.*654G>A)
c.765G>A
n.1838G>A
c.*1052G>A (n.*1052G>A)
c.1462G>A (p.Ala488Thr)
c.1357G>A (p.Ala453Thr)
n.445G>A
c.1354G>A (p.Ala452Thr)
c.1276G>A (p.Ala426Thr)
c.1372G>A (p.Ala458Thr)
c.*320G>A (n.*320G>A)
n.1870G>A
c.1009G>A (p.Ala337Thr)
c.1447G>A (p.Ala483Thr)
c.1360G>A (p.Ala454Thr)
c.1312G>A (p.Ala438Thr)
c.1024G>A (p.Ala342Thr)
c.1459G>A (p.Ala487Thr)
c.1444G>A (p.Ala482Thr)
8g.71215715T>ACA461325138EYA1c.1374A>T (p.Pro458=)
c.1272A>T (p.Pro424=)
c.1269A>T (p.Pro423=)
c.*653A>T (n.*653A>T)
c.764A>T
n.1837A>T
c.*1051A>T (n.*1051A>T)
c.1461A>T (p.Pro487=)
c.1356A>T (p.Pro452=)
n.444A>T
c.1353A>T (p.Pro451=)
c.1275A>T (p.Pro425=)
c.1371A>T (p.Pro457=)
c.*319A>T (n.*319A>T)
n.1869A>T
c.1008A>T (p.Pro336=)
c.1446A>T (p.Pro482=)
c.1359A>T (p.Pro453=)
c.1311A>T (p.Pro437=)
c.1023A>T (p.Pro341=)
c.1458A>T (p.Pro486=)
c.1443A>T (p.Pro481=)
 dbSNP
8g.71215715T>CCA461325137EYA1c.1374A>G (p.Pro458=)
c.1272A>G (p.Pro424=)
c.1269A>G (p.Pro423=)
c.*653A>G (n.*653A>G)
c.764A>G
n.1837A>G
c.*1051A>G (n.*1051A>G)
c.1461A>G (p.Pro487=)
c.1356A>G (p.Pro452=)
n.444A>G
c.1353A>G (p.Pro451=)
c.1275A>G (p.Pro425=)
c.1371A>G (p.Pro457=)
c.*319A>G (n.*319A>G)
n.1869A>G
c.1008A>G (p.Pro336=)
c.1446A>G (p.Pro482=)
c.1359A>G (p.Pro453=)
c.1311A>G (p.Pro437=)
c.1023A>G (p.Pro341=)
c.1458A>G (p.Pro486=)
c.1443A>G (p.Pro481=)
8g.71215715T>GCA461325136EYA1c.1374A>C (p.Pro458=)
c.1272A>C (p.Pro424=)
c.1269A>C (p.Pro423=)
c.*653A>C (n.*653A>C)
c.764A>C
n.1837A>C
c.*1051A>C (n.*1051A>C)
c.1461A>C (p.Pro487=)
c.1356A>C (p.Pro452=)
n.444A>C
c.1353A>C (p.Pro451=)
c.1275A>C (p.Pro425=)
c.1371A>C (p.Pro457=)
c.*319A>C (n.*319A>C)
n.1869A>C
c.1008A>C (p.Pro336=)
c.1446A>C (p.Pro482=)
c.1359A>C (p.Pro453=)
c.1311A>C (p.Pro437=)
c.1023A>C (p.Pro341=)
c.1458A>C (p.Pro486=)
c.1443A>C (p.Pro481=)
8g.71215715T=CA1792691939EYA1c.1374A= (p.Pro458=)
c.1272A= (p.Pro424=)
c.1269A= (p.Pro423=)
c.*653A= (n.*653A=)
c.764A=
n.1837A=
c.*1051A= (n.*1051A=)
c.1461A= (p.Pro487=)
c.1356A= (p.Pro452=)
n.444A=
c.1353A= (p.Pro451=)
c.1275A= (p.Pro425=)
c.1371A= (p.Pro457=)
c.*319A= (n.*319A=)
n.1869A=
c.1008A= (p.Pro336=)
c.1446A= (p.Pro482=)
c.1359A= (p.Pro453=)
c.1311A= (p.Pro437=)
c.1023A= (p.Pro341=)
c.1458A= (p.Pro486=)
c.1443A= (p.Pro481=)
8g.71215716G>ACA371466529EYA1c.1373C>T (p.Pro458Leu)
c.1271C>T (p.Pro424Leu)
c.1268C>T (p.Pro423Leu)
c.*652C>T (n.*652C>T)
c.763C>T
n.1836C>T
c.*1050C>T (n.*1050C>T)
c.1460C>T (p.Pro487Leu)
c.1355C>T (p.Pro452Leu)
n.443C>T
c.1352C>T (p.Pro451Leu)
c.1274C>T (p.Pro425Leu)
c.1370C>T (p.Pro457Leu)
c.*318C>T (n.*318C>T)
n.1868C>T
c.1007C>T (p.Pro336Leu)
c.1445C>T (p.Pro482Leu)
c.1358C>T (p.Pro453Leu)
c.1310C>T (p.Pro437Leu)
c.1022C>T (p.Pro341Leu)
c.1457C>T (p.Pro486Leu)
c.1442C>T (p.Pro481Leu)
 COSMIC COSMIC
8g.71215716G>CCA371466530EYA1c.1373C>G (p.Pro458Arg)
c.1271C>G (p.Pro424Arg)
c.1268C>G (p.Pro423Arg)
c.*652C>G (n.*652C>G)
c.763C>G
n.1836C>G
c.*1050C>G (n.*1050C>G)
c.1460C>G (p.Pro487Arg)
c.1355C>G (p.Pro452Arg)
n.443C>G
c.1352C>G (p.Pro451Arg)
c.1274C>G (p.Pro425Arg)
c.1370C>G (p.Pro457Arg)
c.*318C>G (n.*318C>G)
n.1868C>G
c.1007C>G (p.Pro336Arg)
c.1445C>G (p.Pro482Arg)
c.1358C>G (p.Pro453Arg)
c.1310C>G (p.Pro437Arg)
c.1022C>G (p.Pro341Arg)
c.1457C>G (p.Pro486Arg)
c.1442C>G (p.Pro481Arg)
8g.71215716G>TCA371466531EYA1c.1373C>A (p.Pro458Gln)
c.1271C>A (p.Pro424Gln)
c.1268C>A (p.Pro423Gln)
c.*652C>A (n.*652C>A)
c.763C>A
n.1836C>A
c.*1050C>A (n.*1050C>A)
c.1460C>A (p.Pro487Gln)
c.1355C>A (p.Pro452Gln)
n.443C>A
c.1352C>A (p.Pro451Gln)
c.1274C>A (p.Pro425Gln)
c.1370C>A (p.Pro457Gln)
c.*318C>A (n.*318C>A)
n.1868C>A
c.1007C>A (p.Pro336Gln)
c.1445C>A (p.Pro482Gln)
c.1358C>A (p.Pro453Gln)
c.1310C>A (p.Pro437Gln)
c.1022C>A (p.Pro341Gln)
c.1457C>A (p.Pro486Gln)
c.1442C>A (p.Pro481Gln)
8g.71215717G>ACA371466533EYA1c.1372C>T (p.Pro458Ser)
c.1270C>T (p.Pro424Ser)
c.1267C>T (p.Pro423Ser)
c.*651C>T (n.*651C>T)
c.762C>T
n.1835C>T
c.*1049C>T (n.*1049C>T)
c.1459C>T (p.Pro487Ser)
c.1354C>T (p.Pro452Ser)
n.442C>T
c.1351C>T (p.Pro451Ser)
c.1273C>T (p.Pro425Ser)
c.1369C>T (p.Pro457Ser)
c.*317C>T (n.*317C>T)
n.1867C>T
c.1006C>T (p.Pro336Ser)
c.1444C>T (p.Pro482Ser)
c.1357C>T (p.Pro453Ser)
c.1309C>T (p.Pro437Ser)
c.1021C>T (p.Pro341Ser)
c.1456C>T (p.Pro486Ser)
c.1441C>T (p.Pro481Ser)
8g.71215717G>CCA4779478EYA1c.1372C>G (p.Pro458Ala)
c.1270C>G (p.Pro424Ala)
c.1267C>G (p.Pro423Ala)
c.*651C>G (n.*651C>G)
c.762C>G
n.1835C>G
c.*1049C>G (n.*1049C>G)
c.1459C>G (p.Pro487Ala)
c.1354C>G (p.Pro452Ala)
n.442C>G
c.1351C>G (p.Pro451Ala)
c.1273C>G (p.Pro425Ala)
c.1369C>G (p.Pro457Ala)
c.*317C>G (n.*317C>G)
n.1867C>G
c.1006C>G (p.Pro336Ala)
c.1444C>G (p.Pro482Ala)
c.1357C>G (p.Pro453Ala)
c.1309C>G (p.Pro437Ala)
c.1021C>G (p.Pro341Ala)
c.1456C>G (p.Pro486Ala)
c.1441C>G (p.Pro481Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.71215717G=CA1792691942EYA1c.1372C= (p.Pro458=)
c.1270C= (p.Pro424=)
c.1267C= (p.Pro423=)
c.*651C= (n.*651C=)
c.762C=
n.1835C=
c.*1049C= (n.*1049C=)
c.1459C= (p.Pro487=)
c.1354C= (p.Pro452=)
n.442C=
c.1351C= (p.Pro451=)
c.1273C= (p.Pro425=)
c.1369C= (p.Pro457=)
c.*317C= (n.*317C=)
n.1867C=
c.1006C= (p.Pro336=)
c.1444C= (p.Pro482=)
c.1357C= (p.Pro453=)
c.1309C= (p.Pro437=)
c.1021C= (p.Pro341=)
c.1456C= (p.Pro486=)
c.1441C= (p.Pro481=)
8g.71215717G>TCA371466532EYA1c.1372C>A (p.Pro458Thr)
c.1270C>A (p.Pro424Thr)
c.1267C>A (p.Pro423Thr)
c.*651C>A (n.*651C>A)
c.762C>A
n.1835C>A
c.*1049C>A (n.*1049C>A)
c.1459C>A (p.Pro487Thr)
c.1354C>A (p.Pro452Thr)
n.442C>A
c.1351C>A (p.Pro451Thr)
c.1273C>A (p.Pro425Thr)
c.1369C>A (p.Pro457Thr)
c.*317C>A (n.*317C>A)
n.1867C>A
c.1006C>A (p.Pro336Thr)
c.1444C>A (p.Pro482Thr)
c.1357C>A (p.Pro453Thr)
c.1309C>A (p.Pro437Thr)
c.1021C>A (p.Pro341Thr)
c.1456C>A (p.Pro486Thr)
c.1441C>A (p.Pro481Thr)
8g.71215718A>CCA461325139EYA1c.1371T>G (p.Gly457=)
c.1269T>G (p.Gly423=)
c.1266T>G (p.Gly422=)
c.*650T>G (n.*650T>G)
c.761T>G
n.1834T>G
c.*1048T>G (n.*1048T>G)
c.1458T>G (p.Gly486=)
c.1353T>G (p.Gly451=)
n.441T>G
c.1350T>G (p.Gly450=)
c.1272T>G (p.Gly424=)
c.1368T>G (p.Gly456=)
c.*316T>G (n.*316T>G)
n.1866T>G
c.1005T>G (p.Gly335=)
c.1443T>G (p.Gly481=)
c.1356T>G (p.Gly452=)
c.1308T>G (p.Gly436=)
c.1020T>G (p.Gly340=)
c.1455T>G (p.Gly485=)
c.1440T>G (p.Gly480=)
8g.71215718A>GCA461325140EYA1c.1371T>C (p.Gly457=)
c.1269T>C (p.Gly423=)
c.1266T>C (p.Gly422=)
c.*650T>C (n.*650T>C)
c.761T>C
n.1834T>C
c.*1048T>C (n.*1048T>C)
c.1458T>C (p.Gly486=)
c.1353T>C (p.Gly451=)
n.441T>C
c.1350T>C (p.Gly450=)
c.1272T>C (p.Gly424=)
c.1368T>C (p.Gly456=)
c.*316T>C (n.*316T>C)
n.1866T>C
c.1005T>C (p.Gly335=)
c.1443T>C (p.Gly481=)
c.1356T>C (p.Gly452=)
c.1308T>C (p.Gly436=)
c.1020T>C (p.Gly340=)
c.1455T>C (p.Gly485=)
c.1440T>C (p.Gly480=)
8g.71215718A>TCA461325141EYA1c.1371T>A (p.Gly457=)
c.1269T>A (p.Gly423=)
c.1266T>A (p.Gly422=)
c.*650T>A (n.*650T>A)
c.761T>A
n.1834T>A
c.*1048T>A (n.*1048T>A)
c.1458T>A (p.Gly486=)
c.1353T>A (p.Gly451=)
n.441T>A
c.1350T>A (p.Gly450=)
c.1272T>A (p.Gly424=)
c.1368T>A (p.Gly456=)
c.*316T>A (n.*316T>A)
n.1866T>A
c.1005T>A (p.Gly335=)
c.1443T>A (p.Gly481=)
c.1356T>A (p.Gly452=)
c.1308T>A (p.Gly436=)
c.1020T>A (p.Gly340=)
c.1455T>A (p.Gly485=)
c.1440T>A (p.Gly480=)
 COSMIC COSMIC
8g.71215719C>ACA371466534EYA1c.1370G>T (p.Gly457Val)
c.1268G>T (p.Gly423Val)
c.1265G>T (p.Gly422Val)
c.*649G>T (n.*649G>T)
c.760G>T
n.1833G>T
c.*1047G>T (n.*1047G>T)
c.1457G>T (p.Gly486Val)
c.1352G>T (p.Gly451Val)
n.440G>T
c.1349G>T (p.Gly450Val)
c.1271G>T (p.Gly424Val)
c.1367G>T (p.Gly456Val)
c.*315G>T (n.*315G>T)
n.1865G>T
c.1004G>T (p.Gly335Val)
c.1442G>T (p.Gly481Val)
c.1355G>T (p.Gly452Val)
c.1307G>T (p.Gly436Val)
c.1019G>T (p.Gly340Val)
c.1454G>T (p.Gly485Val)
c.1439G>T (p.Gly480Val)
8g.71215719C>GCA371466535EYA1c.1370G>C (p.Gly457Ala)
c.1268G>C (p.Gly423Ala)
c.1265G>C (p.Gly422Ala)
c.*649G>C (n.*649G>C)
c.760G>C
n.1833G>C
c.*1047G>C (n.*1047G>C)
c.1457G>C (p.Gly486Ala)
c.1352G>C (p.Gly451Ala)
n.440G>C
c.1349G>C (p.Gly450Ala)
c.1271G>C (p.Gly424Ala)
c.1367G>C (p.Gly456Ala)
c.*315G>C (n.*315G>C)
n.1865G>C
c.1004G>C (p.Gly335Ala)
c.1442G>C (p.Gly481Ala)
c.1355G>C (p.Gly452Ala)
c.1307G>C (p.Gly436Ala)
c.1019G>C (p.Gly340Ala)
c.1454G>C (p.Gly485Ala)
c.1439G>C (p.Gly480Ala)
8g.71215719C>TCA371466536EYA1c.1370G>A (p.Gly457Asp)
c.1268G>A (p.Gly423Asp)
c.1265G>A (p.Gly422Asp)
c.*649G>A (n.*649G>A)
c.760G>A
n.1833G>A
c.*1047G>A (n.*1047G>A)
c.1457G>A (p.Gly486Asp)
c.1352G>A (p.Gly451Asp)
n.440G>A
c.1349G>A (p.Gly450Asp)
c.1271G>A (p.Gly424Asp)
c.1367G>A (p.Gly456Asp)
c.*315G>A (n.*315G>A)
n.1865G>A
c.1004G>A (p.Gly335Asp)
c.1442G>A (p.Gly481Asp)
c.1355G>A (p.Gly452Asp)
c.1307G>A (p.Gly436Asp)
c.1019G>A (p.Gly340Asp)
c.1454G>A (p.Gly485Asp)
c.1439G>A (p.Gly480Asp)
8g.71215720C>ACA371466537EYA1c.1369G>T (p.Gly457Cys)
c.1267G>T (p.Gly423Cys)
c.1264G>T (p.Gly422Cys)
c.*648G>T (n.*648G>T)
c.759G>T
n.1832G>T
c.*1046G>T (n.*1046G>T)
c.1456G>T (p.Gly486Cys)
c.1351G>T (p.Gly451Cys)
n.439G>T
c.1348G>T (p.Gly450Cys)
c.1270G>T (p.Gly424Cys)
c.1366G>T (p.Gly456Cys)
c.*314G>T (n.*314G>T)
n.1864G>T
c.1003G>T (p.Gly335Cys)
c.1441G>T (p.Gly481Cys)
c.1354G>T (p.Gly452Cys)
c.1306G>T (p.Gly436Cys)
c.1018G>T (p.Gly340Cys)
c.1453G>T (p.Gly485Cys)
c.1438G>T (p.Gly480Cys)
 gnomAD v4
8g.71215720C=CA1792691946EYA1c.1369G= (p.Gly457=)
c.1267G= (p.Gly423=)
c.1264G= (p.Gly422=)
c.*648G= (n.*648G=)
c.759G=
n.1832G=
c.*1046G= (n.*1046G=)
c.1456G= (p.Gly486=)
c.1351G= (p.Gly451=)
n.439G=
c.1348G= (p.Gly450=)
c.1270G= (p.Gly424=)
c.1366G= (p.Gly456=)
c.*314G= (n.*314G=)
n.1864G=
c.1003G= (p.Gly335=)
c.1441G= (p.Gly481=)
c.1354G= (p.Gly452=)
c.1306G= (p.Gly436=)
c.1018G= (p.Gly340=)
c.1453G= (p.Gly485=)
c.1438G= (p.Gly480=)
8g.71215720C>GCA371466538EYA1c.1369G>C (p.Gly457Arg)
c.1267G>C (p.Gly423Arg)
c.1264G>C (p.Gly422Arg)
c.*648G>C (n.*648G>C)
c.759G>C
n.1832G>C
c.*1046G>C (n.*1046G>C)
c.1456G>C (p.Gly486Arg)
c.1351G>C (p.Gly451Arg)
n.439G>C
c.1348G>C (p.Gly450Arg)
c.1270G>C (p.Gly424Arg)
c.1366G>C (p.Gly456Arg)
c.*314G>C (n.*314G>C)
n.1864G>C
c.1003G>C (p.Gly335Arg)
c.1441G>C (p.Gly481Arg)
c.1354G>C (p.Gly452Arg)
c.1306G>C (p.Gly436Arg)
c.1018G>C (p.Gly340Arg)
c.1453G>C (p.Gly485Arg)
c.1438G>C (p.Gly480Arg)
 dbSNP
8g.71215720C>TCA371466539EYA1c.1369G>A (p.Gly457Ser)
c.1267G>A (p.Gly423Ser)
c.1264G>A (p.Gly422Ser)
c.*648G>A (n.*648G>A)
c.759G>A
n.1832G>A
c.*1046G>A (n.*1046G>A)
c.1456G>A (p.Gly486Ser)
c.1351G>A (p.Gly451Ser)
n.439G>A
c.1348G>A (p.Gly450Ser)
c.1270G>A (p.Gly424Ser)
c.1366G>A (p.Gly456Ser)
c.*314G>A (n.*314G>A)
n.1864G>A
c.1003G>A (p.Gly335Ser)
c.1441G>A (p.Gly481Ser)
c.1354G>A (p.Gly452Ser)
c.1306G>A (p.Gly436Ser)
c.1018G>A (p.Gly340Ser)
c.1453G>A (p.Gly485Ser)
c.1438G>A (p.Gly480Ser)

Number of alleles fetched