Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.71216695C>ACA371466570EYA1c.1357G>T (p.Gly453Ter)
c.1255G>T (p.Gly419Ter)
c.1252G>T (p.Gly418Ter)
c.*636G>T (n.*636G>T)
c.747G>T
n.1820G>T
c.*1034G>T (n.*1034G>T)
c.1444G>T (p.Gly482Ter)
c.1339G>T (p.Gly447Ter)
n.427G>T
c.1336G>T (p.Gly446Ter)
c.1258G>T (p.Gly420Ter)
c.1354G>T (p.Gly452Ter)
c.*302G>T (n.*302G>T)
n.1852G>T
c.991G>T (p.Gly331Ter)
c.1429G>T (p.Gly477Ter)
c.1342G>T (p.Gly448Ter)
c.1294G>T (p.Gly432Ter)
c.1006G>T (p.Gly336Ter)
c.1441G>T (p.Gly481Ter)
c.1426G>T (p.Gly476Ter)
8g.71216695C>GCA371466571EYA1c.1357G>C (p.Gly453Arg)
c.1255G>C (p.Gly419Arg)
c.1252G>C (p.Gly418Arg)
c.*636G>C (n.*636G>C)
c.747G>C
n.1820G>C
c.*1034G>C (n.*1034G>C)
c.1444G>C (p.Gly482Arg)
c.1339G>C (p.Gly447Arg)
n.427G>C
c.1336G>C (p.Gly446Arg)
c.1258G>C (p.Gly420Arg)
c.1354G>C (p.Gly452Arg)
c.*302G>C (n.*302G>C)
n.1852G>C
c.991G>C (p.Gly331Arg)
c.1429G>C (p.Gly477Arg)
c.1342G>C (p.Gly448Arg)
c.1294G>C (p.Gly432Arg)
c.1006G>C (p.Gly336Arg)
c.1441G>C (p.Gly481Arg)
c.1426G>C (p.Gly476Arg)
8g.71216695C>TCA371466572EYA1c.1357G>A (p.Gly453Arg)
c.1255G>A (p.Gly419Arg)
c.1252G>A (p.Gly418Arg)
c.*636G>A (n.*636G>A)
c.747G>A
n.1820G>A
c.*1034G>A (n.*1034G>A)
c.1444G>A (p.Gly482Arg)
c.1339G>A (p.Gly447Arg)
n.427G>A
c.1336G>A (p.Gly446Arg)
c.1258G>A (p.Gly420Arg)
c.1354G>A (p.Gly452Arg)
c.*302G>A (n.*302G>A)
n.1852G>A
c.991G>A (p.Gly331Arg)
c.1429G>A (p.Gly477Arg)
c.1342G>A (p.Gly448Arg)
c.1294G>A (p.Gly432Arg)
c.1006G>A (p.Gly336Arg)
c.1441G>A (p.Gly481Arg)
c.1426G>A (p.Gly476Arg)
8g.71216696A>CCA461433815EYA1c.1356T>G (p.Val452=)
c.1254T>G (p.Val418=)
c.1251T>G (p.Val417=)
c.*635T>G (n.*635T>G)
c.746T>G
n.1819T>G
c.*1033T>G (n.*1033T>G)
c.1443T>G (p.Val481=)
c.1338T>G (p.Val446=)
n.426T>G
c.1335T>G (p.Val445=)
c.1257T>G (p.Val419=)
c.1353T>G (p.Val451=)
c.*301T>G (n.*301T>G)
n.1851T>G
c.990T>G (p.Val330=)
c.1428T>G (p.Val476=)
c.1341T>G (p.Val447=)
c.1293T>G (p.Val431=)
c.1005T>G (p.Val335=)
c.1440T>G (p.Val480=)
c.1425T>G (p.Val475=)
8g.71216696A>GCA461433816EYA1c.1356T>C (p.Val452=)
c.1254T>C (p.Val418=)
c.1251T>C (p.Val417=)
c.*635T>C (n.*635T>C)
c.746T>C
n.1819T>C
c.*1033T>C (n.*1033T>C)
c.1443T>C (p.Val481=)
c.1338T>C (p.Val446=)
n.426T>C
c.1335T>C (p.Val445=)
c.1257T>C (p.Val419=)
c.1353T>C (p.Val451=)
c.*301T>C (n.*301T>C)
n.1851T>C
c.990T>C (p.Val330=)
c.1428T>C (p.Val476=)
c.1341T>C (p.Val447=)
c.1293T>C (p.Val431=)
c.1005T>C (p.Val335=)
c.1440T>C (p.Val480=)
c.1425T>C (p.Val475=)
8g.71216696A>TCA461433817EYA1c.1356T>A (p.Val452=)
c.1254T>A (p.Val418=)
c.1251T>A (p.Val417=)
c.*635T>A (n.*635T>A)
c.746T>A
n.1819T>A
c.*1033T>A (n.*1033T>A)
c.1443T>A (p.Val481=)
c.1338T>A (p.Val446=)
n.426T>A
c.1335T>A (p.Val445=)
c.1257T>A (p.Val419=)
c.1353T>A (p.Val451=)
c.*301T>A (n.*301T>A)
n.1851T>A
c.990T>A (p.Val330=)
c.1428T>A (p.Val476=)
c.1341T>A (p.Val447=)
c.1293T>A (p.Val431=)
c.1005T>A (p.Val335=)
c.1440T>A (p.Val480=)
c.1425T>A (p.Val475=)
8g.71216696_71216698delinsAACCA1792692693EYA1c.1354_1356delinsGTT (p.Val452=)
c.1252_1254delinsGTT (p.Val418=)
c.1249_1251delinsGTT (p.Val417=)
c.*633_*635delinsGTT (n.*633_*635delinsGTT)
c.744_746delinsGTT
n.1817_1819delinsGTT
c.*1031_*1033delinsGTT (n.*1031_*1033delinsGTT)
c.1441_1443delinsGTT (p.Val481=)
c.1336_1338delinsGTT (p.Val446=)
n.424_426delinsGTT
c.1333_1335delinsGTT (p.Val445=)
c.1255_1257delinsGTT (p.Val419=)
c.1351_1353delinsGTT (p.Val451=)
c.*299_*301delinsGTT (n.*299_*301delinsGTT)
n.1849_1851delinsGTT
c.988_990delinsGTT (p.Val330=)
c.1426_1428delinsGTT (p.Val476=)
c.1339_1341delinsGTT (p.Val447=)
c.1291_1293delinsGTT (p.Val431=)
c.1003_1005delinsGTT (p.Val335=)
c.1438_1440delinsGTT (p.Val480=)
c.1423_1425delinsGTT (p.Val475=)
8g.71216697A>CCA371466573EYA1c.1355T>G (p.Val452Gly)
c.1253T>G (p.Val418Gly)
c.1250T>G (p.Val417Gly)
c.*634T>G (n.*634T>G)
c.745T>G
n.1818T>G
c.*1032T>G (n.*1032T>G)
c.1442T>G (p.Val481Gly)
c.1337T>G (p.Val446Gly)
n.425T>G
c.1334T>G (p.Val445Gly)
c.1256T>G (p.Val419Gly)
c.1352T>G (p.Val451Gly)
c.*300T>G (n.*300T>G)
n.1850T>G
c.989T>G (p.Val330Gly)
c.1427T>G (p.Val476Gly)
c.1340T>G (p.Val447Gly)
c.1292T>G (p.Val431Gly)
c.1004T>G (p.Val335Gly)
c.1439T>G (p.Val480Gly)
c.1424T>G (p.Val475Gly)
8g.71216697A>GCA371466574EYA1c.1355T>C (p.Val452Ala)
c.1253T>C (p.Val418Ala)
c.1250T>C (p.Val417Ala)
c.*634T>C (n.*634T>C)
c.745T>C
n.1818T>C
c.*1032T>C (n.*1032T>C)
c.1442T>C (p.Val481Ala)
c.1337T>C (p.Val446Ala)
n.425T>C
c.1334T>C (p.Val445Ala)
c.1256T>C (p.Val419Ala)
c.1352T>C (p.Val451Ala)
c.*300T>C (n.*300T>C)
n.1850T>C
c.989T>C (p.Val330Ala)
c.1427T>C (p.Val476Ala)
c.1340T>C (p.Val447Ala)
c.1292T>C (p.Val431Ala)
c.1004T>C (p.Val335Ala)
c.1439T>C (p.Val480Ala)
c.1424T>C (p.Val475Ala)
 gnomAD v4
8g.71216697A>TCA371466575EYA1c.1355T>A (p.Val452Asp)
c.1253T>A (p.Val418Asp)
c.1250T>A (p.Val417Asp)
c.*634T>A (n.*634T>A)
c.745T>A
n.1818T>A
c.*1032T>A (n.*1032T>A)
c.1442T>A (p.Val481Asp)
c.1337T>A (p.Val446Asp)
n.425T>A
c.1334T>A (p.Val445Asp)
c.1256T>A (p.Val419Asp)
c.1352T>A (p.Val451Asp)
c.*300T>A (n.*300T>A)
n.1850T>A
c.989T>A (p.Val330Asp)
c.1427T>A (p.Val476Asp)
c.1340T>A (p.Val447Asp)
c.1292T>A (p.Val431Asp)
c.1004T>A (p.Val335Asp)
c.1439T>A (p.Val480Asp)
c.1424T>A (p.Val475Asp)
8g.71216698_71216699delCA915945733EYA1c.1354_1355del (p.Val452TrpfsTer8)
c.1252_1253del (p.Val418TrpfsTer8)
c.1249_1250del (p.Val417TrpfsTer8)
c.*633_*634del (n.*633_*634del)
c.744_745del
n.1817_1818del
c.*1031_*1032del (n.*1031_*1032del)
c.1441_1442del (p.Val481TrpfsTer8)
c.1336_1337del (p.Val446TrpfsTer8)
n.424_425del
c.1333_1334del (p.Val445TrpfsTer8)
c.1255_1256del (p.Val419TrpfsTer8)
c.1351_1352del (p.Val451TrpfsTer8)
c.*299_*300del (n.*299_*300del)
n.1849_1850del
c.988_989del (p.Val330TrpfsTer8)
c.1426_1427del (p.Val476TrpfsTer8)
c.1339_1340del (p.Val447TrpfsTer8)
c.1291_1292del (p.Val431TrpfsTer8)
c.1003_1004del (p.Val335TrpfsTer8)
c.1438_1439del (p.Val480TrpfsTer8)
c.1423_1424del (p.Val475TrpfsTer8)
 ClinVar dbSNP
8g.71216698C>ACA371466576EYA1c.1354G>T (p.Val452Phe)
c.1252G>T (p.Val418Phe)
c.1249G>T (p.Val417Phe)
c.*633G>T (n.*633G>T)
c.744G>T
n.1817G>T
c.*1031G>T (n.*1031G>T)
c.1441G>T (p.Val481Phe)
c.1336G>T (p.Val446Phe)
n.424G>T
c.1333G>T (p.Val445Phe)
c.1255G>T (p.Val419Phe)
c.1351G>T (p.Val451Phe)
c.*299G>T (n.*299G>T)
n.1849G>T
c.988G>T (p.Val330Phe)
c.1426G>T (p.Val476Phe)
c.1339G>T (p.Val447Phe)
c.1291G>T (p.Val431Phe)
c.1003G>T (p.Val335Phe)
c.1438G>T (p.Val480Phe)
c.1423G>T (p.Val475Phe)
8g.71216698C>GCA371466577EYA1c.1354G>C (p.Val452Leu)
c.1252G>C (p.Val418Leu)
c.1249G>C (p.Val417Leu)
c.*633G>C (n.*633G>C)
c.744G>C
n.1817G>C
c.*1031G>C (n.*1031G>C)
c.1441G>C (p.Val481Leu)
c.1336G>C (p.Val446Leu)
n.424G>C
c.1333G>C (p.Val445Leu)
c.1255G>C (p.Val419Leu)
c.1351G>C (p.Val451Leu)
c.*299G>C (n.*299G>C)
n.1849G>C
c.988G>C (p.Val330Leu)
c.1426G>C (p.Val476Leu)
c.1339G>C (p.Val447Leu)
c.1291G>C (p.Val431Leu)
c.1003G>C (p.Val335Leu)
c.1438G>C (p.Val480Leu)
c.1423G>C (p.Val475Leu)
8g.71216698C>TCA371466578EYA1c.1354G>A (p.Val452Ile)
c.1252G>A (p.Val418Ile)
c.1249G>A (p.Val417Ile)
c.*633G>A (n.*633G>A)
c.744G>A
n.1817G>A
c.*1031G>A (n.*1031G>A)
c.1441G>A (p.Val481Ile)
c.1336G>A (p.Val446Ile)
n.424G>A
c.1333G>A (p.Val445Ile)
c.1255G>A (p.Val419Ile)
c.1351G>A (p.Val451Ile)
c.*299G>A (n.*299G>A)
n.1849G>A
c.988G>A (p.Val330Ile)
c.1426G>A (p.Val476Ile)
c.1339G>A (p.Val447Ile)
c.1291G>A (p.Val431Ile)
c.1003G>A (p.Val335Ile)
c.1438G>A (p.Val480Ile)
c.1423G>A (p.Val475Ile)
8g.71216699A=CA1792692697EYA1c.1353T= (p.Asn451=)
c.1251T= (p.Asn417=)
c.1248T= (p.Asn416=)
c.*632T= (n.*632T=)
c.743T=
n.1816T=
c.*1030T= (n.*1030T=)
c.1440T= (p.Asn480=)
c.1335T= (p.Asn445=)
n.423T=
c.1332T= (p.Asn444=)
c.1254T= (p.Asn418=)
c.1350T= (p.Asn450=)
c.*298T= (n.*298T=)
n.1848T=
c.987T= (p.Asn329=)
c.1425T= (p.Asn475=)
c.1338T= (p.Asn446=)
c.1290T= (p.Asn430=)
c.1002T= (p.Asn334=)
c.1437T= (p.Asn479=)
c.1422T= (p.Asn474=)
8g.71216699A>CCA371466579EYA1c.1353T>G (p.Asn451Lys)
c.1251T>G (p.Asn417Lys)
c.1248T>G (p.Asn416Lys)
c.*632T>G (n.*632T>G)
c.743T>G
n.1816T>G
c.*1030T>G (n.*1030T>G)
c.1440T>G (p.Asn480Lys)
c.1335T>G (p.Asn445Lys)
n.423T>G
c.1332T>G (p.Asn444Lys)
c.1254T>G (p.Asn418Lys)
c.1350T>G (p.Asn450Lys)
c.*298T>G (n.*298T>G)
n.1848T>G
c.987T>G (p.Asn329Lys)
c.1425T>G (p.Asn475Lys)
c.1338T>G (p.Asn446Lys)
c.1290T>G (p.Asn430Lys)
c.1002T>G (p.Asn334Lys)
c.1437T>G (p.Asn479Lys)
c.1422T>G (p.Asn474Lys)
8g.71216699A>GCA4779494EYA1c.1353T>C (p.Asn451=)
c.1251T>C (p.Asn417=)
c.1248T>C (p.Asn416=)
c.*632T>C (n.*632T>C)
c.743T>C
n.1816T>C
c.*1030T>C (n.*1030T>C)
c.1440T>C (p.Asn480=)
c.1335T>C (p.Asn445=)
n.423T>C
c.1332T>C (p.Asn444=)
c.1254T>C (p.Asn418=)
c.1350T>C (p.Asn450=)
c.*298T>C (n.*298T>C)
n.1848T>C
c.987T>C (p.Asn329=)
c.1425T>C (p.Asn475=)
c.1338T>C (p.Asn446=)
c.1290T>C (p.Asn430=)
c.1002T>C (p.Asn334=)
c.1437T>C (p.Asn479=)
c.1422T>C (p.Asn474=)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.71216699A>TCA371466580EYA1c.1353T>A (p.Asn451Lys)
c.1251T>A (p.Asn417Lys)
c.1248T>A (p.Asn416Lys)
c.*632T>A (n.*632T>A)
c.743T>A
n.1816T>A
c.*1030T>A (n.*1030T>A)
c.1440T>A (p.Asn480Lys)
c.1335T>A (p.Asn445Lys)
n.423T>A
c.1332T>A (p.Asn444Lys)
c.1254T>A (p.Asn418Lys)
c.1350T>A (p.Asn450Lys)
c.*298T>A (n.*298T>A)
n.1848T>A
c.987T>A (p.Asn329Lys)
c.1425T>A (p.Asn475Lys)
c.1338T>A (p.Asn446Lys)
c.1290T>A (p.Asn430Lys)
c.1002T>A (p.Asn334Lys)
c.1437T>A (p.Asn479Lys)
c.1422T>A (p.Asn474Lys)
8g.71216700T>ACA371466582EYA1c.1352A>T (p.Asn451Ile)
c.1250A>T (p.Asn417Ile)
c.1247A>T (p.Asn416Ile)
c.*631A>T (n.*631A>T)
c.742A>T
n.1815A>T
c.*1029A>T (n.*1029A>T)
c.1439A>T (p.Asn480Ile)
c.1334A>T (p.Asn445Ile)
n.422A>T
c.1331A>T (p.Asn444Ile)
c.1253A>T (p.Asn418Ile)
c.1349A>T (p.Asn450Ile)
c.*297A>T (n.*297A>T)
n.1847A>T
c.986A>T (p.Asn329Ile)
c.1424A>T (p.Asn475Ile)
c.1337A>T (p.Asn446Ile)
c.1289A>T (p.Asn430Ile)
c.1001A>T (p.Asn334Ile)
c.1436A>T (p.Asn479Ile)
c.1421A>T (p.Asn474Ile)
8g.71216700T>CCA371466583EYA1c.1352A>G (p.Asn451Ser)
c.1250A>G (p.Asn417Ser)
c.1247A>G (p.Asn416Ser)
c.*631A>G (n.*631A>G)
c.742A>G
n.1815A>G
c.*1029A>G (n.*1029A>G)
c.1439A>G (p.Asn480Ser)
c.1334A>G (p.Asn445Ser)
n.422A>G
c.1331A>G (p.Asn444Ser)
c.1253A>G (p.Asn418Ser)
c.1349A>G (p.Asn450Ser)
c.*297A>G (n.*297A>G)
n.1847A>G
c.986A>G (p.Asn329Ser)
c.1424A>G (p.Asn475Ser)
c.1337A>G (p.Asn446Ser)
c.1289A>G (p.Asn430Ser)
c.1001A>G (p.Asn334Ser)
c.1436A>G (p.Asn479Ser)
c.1421A>G (p.Asn474Ser)
 dbSNP gnomAD v2 gnomAD v4
8g.71216700T>GCA371466581EYA1c.1352A>C (p.Asn451Thr)
c.1250A>C (p.Asn417Thr)
c.1247A>C (p.Asn416Thr)
c.*631A>C (n.*631A>C)
c.742A>C
n.1815A>C
c.*1029A>C (n.*1029A>C)
c.1439A>C (p.Asn480Thr)
c.1334A>C (p.Asn445Thr)
n.422A>C
c.1331A>C (p.Asn444Thr)
c.1253A>C (p.Asn418Thr)
c.1349A>C (p.Asn450Thr)
c.*297A>C (n.*297A>C)
n.1847A>C
c.986A>C (p.Asn329Thr)
c.1424A>C (p.Asn475Thr)
c.1337A>C (p.Asn446Thr)
c.1289A>C (p.Asn430Thr)
c.1001A>C (p.Asn334Thr)
c.1436A>C (p.Asn479Thr)
c.1421A>C (p.Asn474Thr)
8g.71216700T=CA1792692700EYA1c.1352A= (p.Asn451=)
c.1250A= (p.Asn417=)
c.1247A= (p.Asn416=)
c.*631A= (n.*631A=)
c.742A=
n.1815A=
c.*1029A= (n.*1029A=)
c.1439A= (p.Asn480=)
c.1334A= (p.Asn445=)
n.422A=
c.1331A= (p.Asn444=)
c.1253A= (p.Asn418=)
c.1349A= (p.Asn450=)
c.*297A= (n.*297A=)
n.1847A=
c.986A= (p.Asn329=)
c.1424A= (p.Asn475=)
c.1337A= (p.Asn446=)
c.1289A= (p.Asn430=)
c.1001A= (p.Asn334=)
c.1436A= (p.Asn479=)
c.1421A= (p.Asn474=)
8g.71216701T>ACA371466584EYA1c.1351A>T (p.Asn451Tyr)
c.1249A>T (p.Asn417Tyr)
c.1246A>T (p.Asn416Tyr)
c.*630A>T (n.*630A>T)
c.741A>T
n.1814A>T
c.*1028A>T (n.*1028A>T)
c.1438A>T (p.Asn480Tyr)
c.1333A>T (p.Asn445Tyr)
n.421A>T
c.1330A>T (p.Asn444Tyr)
c.1252A>T (p.Asn418Tyr)
c.1348A>T (p.Asn450Tyr)
c.*296A>T (n.*296A>T)
n.1846A>T
c.985A>T (p.Asn329Tyr)
c.1423A>T (p.Asn475Tyr)
c.1336A>T (p.Asn446Tyr)
c.1288A>T (p.Asn430Tyr)
c.1000A>T (p.Asn334Tyr)
c.1435A>T (p.Asn479Tyr)
c.1420A>T (p.Asn474Tyr)
8g.71216701T>CCA371466585EYA1c.1351A>G (p.Asn451Asp)
c.1249A>G (p.Asn417Asp)
c.1246A>G (p.Asn416Asp)
c.*630A>G (n.*630A>G)
c.741A>G
n.1814A>G
c.*1028A>G (n.*1028A>G)
c.1438A>G (p.Asn480Asp)
c.1333A>G (p.Asn445Asp)
n.421A>G
c.1330A>G (p.Asn444Asp)
c.1252A>G (p.Asn418Asp)
c.1348A>G (p.Asn450Asp)
c.*296A>G (n.*296A>G)
n.1846A>G
c.985A>G (p.Asn329Asp)
c.1423A>G (p.Asn475Asp)
c.1336A>G (p.Asn446Asp)
c.1288A>G (p.Asn430Asp)
c.1000A>G (p.Asn334Asp)
c.1435A>G (p.Asn479Asp)
c.1420A>G (p.Asn474Asp)
8g.71216701T>GCA371466586EYA1c.1351A>C (p.Asn451His)
c.1249A>C (p.Asn417His)
c.1246A>C (p.Asn416His)
c.*630A>C (n.*630A>C)
c.741A>C
n.1814A>C
c.*1028A>C (n.*1028A>C)
c.1438A>C (p.Asn480His)
c.1333A>C (p.Asn445His)
n.421A>C
c.1330A>C (p.Asn444His)
c.1252A>C (p.Asn418His)
c.1348A>C (p.Asn450His)
c.*296A>C (n.*296A>C)
n.1846A>C
c.985A>C (p.Asn329His)
c.1423A>C (p.Asn475His)
c.1336A>C (p.Asn446His)
c.1288A>C (p.Asn430His)
c.1000A>C (p.Asn334His)
c.1435A>C (p.Asn479His)
c.1420A>C (p.Asn474His)
8g.71216702A=CA1792692703EYA1c.1350T= (p.Asn450=)
c.1248T= (p.Asn416=)
c.1245T= (p.Asn415=)
c.*629T= (n.*629T=)
c.740T=
n.1813T=
c.*1027T= (n.*1027T=)
c.1437T= (p.Asn479=)
c.1332T= (p.Asn444=)
n.420T=
c.1329T= (p.Asn443=)
c.1251T= (p.Asn417=)
c.1347T= (p.Asn449=)
c.*295T= (n.*295T=)
n.1845T=
c.984T= (p.Asn328=)
c.1422T= (p.Asn474=)
c.1335T= (p.Asn445=)
c.1287T= (p.Asn429=)
c.999T= (p.Asn333=)
c.1434T= (p.Asn478=)
c.1419T= (p.Asn473=)
8g.71216702A>CCA371466587EYA1c.1350T>G (p.Asn450Lys)
c.1248T>G (p.Asn416Lys)
c.1245T>G (p.Asn415Lys)
c.*629T>G (n.*629T>G)
c.740T>G
n.1813T>G
c.*1027T>G (n.*1027T>G)
c.1437T>G (p.Asn479Lys)
c.1332T>G (p.Asn444Lys)
n.420T>G
c.1329T>G (p.Asn443Lys)
c.1251T>G (p.Asn417Lys)
c.1347T>G (p.Asn449Lys)
c.*295T>G (n.*295T>G)
n.1845T>G
c.984T>G (p.Asn328Lys)
c.1422T>G (p.Asn474Lys)
c.1335T>G (p.Asn445Lys)
c.1287T>G (p.Asn429Lys)
c.999T>G (p.Asn333Lys)
c.1434T>G (p.Asn478Lys)
c.1419T>G (p.Asn473Lys)
8g.71216702A>GCA179210000EYA1c.1350T>C (p.Asn450=)
c.1248T>C (p.Asn416=)
c.1245T>C (p.Asn415=)
c.*629T>C (n.*629T>C)
c.740T>C
n.1813T>C
c.*1027T>C (n.*1027T>C)
c.1437T>C (p.Asn479=)
c.1332T>C (p.Asn444=)
n.420T>C
c.1329T>C (p.Asn443=)
c.1251T>C (p.Asn417=)
c.1347T>C (p.Asn449=)
c.*295T>C (n.*295T>C)
n.1845T>C
c.984T>C (p.Asn328=)
c.1422T>C (p.Asn474=)
c.1335T>C (p.Asn445=)
c.1287T>C (p.Asn429=)
c.999T>C (p.Asn333=)
c.1434T>C (p.Asn478=)
c.1419T>C (p.Asn473=)
 dbSNP
8g.71216702A>TCA371466588EYA1c.1350T>A (p.Asn450Lys)
c.1248T>A (p.Asn416Lys)
c.1245T>A (p.Asn415Lys)
c.*629T>A (n.*629T>A)
c.740T>A
n.1813T>A
c.*1027T>A (n.*1027T>A)
c.1437T>A (p.Asn479Lys)
c.1332T>A (p.Asn444Lys)
n.420T>A
c.1329T>A (p.Asn443Lys)
c.1251T>A (p.Asn417Lys)
c.1347T>A (p.Asn449Lys)
c.*295T>A (n.*295T>A)
n.1845T>A
c.984T>A (p.Asn328Lys)
c.1422T>A (p.Asn474Lys)
c.1335T>A (p.Asn445Lys)
c.1287T>A (p.Asn429Lys)
c.999T>A (p.Asn333Lys)
c.1434T>A (p.Asn478Lys)
c.1419T>A (p.Asn473Lys)
8g.71216702delinsGGCA2580078932EYA1c.1350delinsCC (p.Asn451GlnfsTer10)
c.1248delinsCC (p.Asn417GlnfsTer10)
c.1245delinsCC (p.Asn416GlnfsTer10)
c.*629delinsCC (n.*629delinsCC)
c.740delinsCC
n.1813delinsCC
c.*1027delinsCC (n.*1027delinsCC)
c.1437delinsCC (p.Asn480GlnfsTer10)
c.1332delinsCC (p.Asn445GlnfsTer10)
n.420delinsCC
c.1329delinsCC (p.Asn444GlnfsTer10)
c.1251delinsCC (p.Asn418GlnfsTer10)
c.1347delinsCC (p.Asn450GlnfsTer10)
c.*295delinsCC (n.*295delinsCC)
n.1845delinsCC
c.984delinsCC (p.Asn329GlnfsTer10)
c.1422delinsCC (p.Asn475GlnfsTer10)
c.1335delinsCC (p.Asn446GlnfsTer10)
c.1287delinsCC (p.Asn430GlnfsTer10)
c.999delinsCC (p.Asn334GlnfsTer10)
c.1434delinsCC (p.Asn479GlnfsTer10)
c.1419delinsCC (p.Asn474GlnfsTer10)
 ClinVar
8g.71216703T>ACA371466591EYA1c.1349A>T (p.Asn450Ile)
c.1247A>T (p.Asn416Ile)
c.1244A>T (p.Asn415Ile)
c.*628A>T (n.*628A>T)
c.739A>T
n.1812A>T
c.*1026A>T (n.*1026A>T)
c.1436A>T (p.Asn479Ile)
c.1331A>T (p.Asn444Ile)
n.419A>T
c.1328A>T (p.Asn443Ile)
c.1250A>T (p.Asn417Ile)
c.1346A>T (p.Asn449Ile)
c.*294A>T (n.*294A>T)
n.1844A>T
c.983A>T (p.Asn328Ile)
c.1421A>T (p.Asn474Ile)
c.1334A>T (p.Asn445Ile)
c.1286A>T (p.Asn429Ile)
c.998A>T (p.Asn333Ile)
c.1433A>T (p.Asn478Ile)
c.1418A>T (p.Asn473Ile)
8g.71216703T>CCA371466589EYA1c.1349A>G (p.Asn450Ser)
c.1247A>G (p.Asn416Ser)
c.1244A>G (p.Asn415Ser)
c.*628A>G (n.*628A>G)
c.739A>G
n.1812A>G
c.*1026A>G (n.*1026A>G)
c.1436A>G (p.Asn479Ser)
c.1331A>G (p.Asn444Ser)
n.419A>G
c.1328A>G (p.Asn443Ser)
c.1250A>G (p.Asn417Ser)
c.1346A>G (p.Asn449Ser)
c.*294A>G (n.*294A>G)
n.1844A>G
c.983A>G (p.Asn328Ser)
c.1421A>G (p.Asn474Ser)
c.1334A>G (p.Asn445Ser)
c.1286A>G (p.Asn429Ser)
c.998A>G (p.Asn333Ser)
c.1433A>G (p.Asn478Ser)
c.1418A>G (p.Asn473Ser)
8g.71216703T>GCA371466590EYA1c.1349A>C (p.Asn450Thr)
c.1247A>C (p.Asn416Thr)
c.1244A>C (p.Asn415Thr)
c.*628A>C (n.*628A>C)
c.739A>C
n.1812A>C
c.*1026A>C (n.*1026A>C)
c.1436A>C (p.Asn479Thr)
c.1331A>C (p.Asn444Thr)
n.419A>C
c.1328A>C (p.Asn443Thr)
c.1250A>C (p.Asn417Thr)
c.1346A>C (p.Asn449Thr)
c.*294A>C (n.*294A>C)
n.1844A>C
c.983A>C (p.Asn328Thr)
c.1421A>C (p.Asn474Thr)
c.1334A>C (p.Asn445Thr)
c.1286A>C (p.Asn429Thr)
c.998A>C (p.Asn333Thr)
c.1433A>C (p.Asn478Thr)
c.1418A>C (p.Asn473Thr)
8g.71216704T>ACA371466592EYA1c.1348A>T (p.Asn450Tyr)
c.1246A>T (p.Asn416Tyr)
c.1243A>T (p.Asn415Tyr)
c.*627A>T (n.*627A>T)
c.738A>T
n.1811A>T
c.*1025A>T (n.*1025A>T)
c.1435A>T (p.Asn479Tyr)
c.1330A>T (p.Asn444Tyr)
n.418A>T
c.1327A>T (p.Asn443Tyr)
c.1249A>T (p.Asn417Tyr)
c.1345A>T (p.Asn449Tyr)
c.*293A>T (n.*293A>T)
n.1843A>T
c.982A>T (p.Asn328Tyr)
c.1420A>T (p.Asn474Tyr)
c.1333A>T (p.Asn445Tyr)
c.1285A>T (p.Asn429Tyr)
c.997A>T (p.Asn333Tyr)
c.1432A>T (p.Asn478Tyr)
c.1417A>T (p.Asn473Tyr)
8g.71216704T>CCA371466593EYA1c.1348A>G (p.Asn450Asp)
c.1246A>G (p.Asn416Asp)
c.1243A>G (p.Asn415Asp)
c.*627A>G (n.*627A>G)
c.738A>G
n.1811A>G
c.*1025A>G (n.*1025A>G)
c.1435A>G (p.Asn479Asp)
c.1330A>G (p.Asn444Asp)
n.418A>G
c.1327A>G (p.Asn443Asp)
c.1249A>G (p.Asn417Asp)
c.1345A>G (p.Asn449Asp)
c.*293A>G (n.*293A>G)
n.1843A>G
c.982A>G (p.Asn328Asp)
c.1420A>G (p.Asn474Asp)
c.1333A>G (p.Asn445Asp)
c.1285A>G (p.Asn429Asp)
c.997A>G (p.Asn333Asp)
c.1432A>G (p.Asn478Asp)
c.1417A>G (p.Asn473Asp)
 gnomAD v4
8g.71216704T>GCA371466594EYA1c.1348A>C (p.Asn450His)
c.1246A>C (p.Asn416His)
c.1243A>C (p.Asn415His)
c.*627A>C (n.*627A>C)
c.738A>C
n.1811A>C
c.*1025A>C (n.*1025A>C)
c.1435A>C (p.Asn479His)
c.1330A>C (p.Asn444His)
n.418A>C
c.1327A>C (p.Asn443His)
c.1249A>C (p.Asn417His)
c.1345A>C (p.Asn449His)
c.*293A>C (n.*293A>C)
n.1843A>C
c.982A>C (p.Asn328His)
c.1420A>C (p.Asn474His)
c.1333A>C (p.Asn445His)
c.1285A>C (p.Asn429His)
c.997A>C (p.Asn333His)
c.1432A>C (p.Asn478His)
c.1417A>C (p.Asn473His)
8g.71216705T>ACA371466595EYA1c.1347A>T (p.Lys449Asn)
c.1245A>T (p.Lys415Asn)
c.1242A>T (p.Lys414Asn)
c.*626A>T (n.*626A>T)
c.737A>T
n.1810A>T
c.*1024A>T (n.*1024A>T)
c.1434A>T (p.Lys478Asn)
c.1329A>T (p.Lys443Asn)
n.417A>T
c.1326A>T (p.Lys442Asn)
c.1248A>T (p.Lys416Asn)
c.1344A>T (p.Lys448Asn)
c.*292A>T (n.*292A>T)
n.1842A>T
c.981A>T (p.Lys327Asn)
c.1419A>T (p.Lys473Asn)
c.1332A>T (p.Lys444Asn)
c.1284A>T (p.Lys428Asn)
c.996A>T (p.Lys332Asn)
c.1431A>T (p.Lys477Asn)
c.1416A>T (p.Lys472Asn)
8g.71216705T>CCA461433828EYA1c.1347A>G (p.Lys449=)
c.1245A>G (p.Lys415=)
c.1242A>G (p.Lys414=)
c.*626A>G (n.*626A>G)
c.737A>G
n.1810A>G
c.*1024A>G (n.*1024A>G)
c.1434A>G (p.Lys478=)
c.1329A>G (p.Lys443=)
n.417A>G
c.1326A>G (p.Lys442=)
c.1248A>G (p.Lys416=)
c.1344A>G (p.Lys448=)
c.*292A>G (n.*292A>G)
n.1842A>G
c.981A>G (p.Lys327=)
c.1419A>G (p.Lys473=)
c.1332A>G (p.Lys444=)
c.1284A>G (p.Lys428=)
c.996A>G (p.Lys332=)
c.1431A>G (p.Lys477=)
c.1416A>G (p.Lys472=)
8g.71216705T>GCA371466596EYA1c.1347A>C (p.Lys449Asn)
c.1245A>C (p.Lys415Asn)
c.1242A>C (p.Lys414Asn)
c.*626A>C (n.*626A>C)
c.737A>C
n.1810A>C
c.*1024A>C (n.*1024A>C)
c.1434A>C (p.Lys478Asn)
c.1329A>C (p.Lys443Asn)
n.417A>C
c.1326A>C (p.Lys442Asn)
c.1248A>C (p.Lys416Asn)
c.1344A>C (p.Lys448Asn)
c.*292A>C (n.*292A>C)
n.1842A>C
c.981A>C (p.Lys327Asn)
c.1419A>C (p.Lys473Asn)
c.1332A>C (p.Lys444Asn)
c.1284A>C (p.Lys428Asn)
c.996A>C (p.Lys332Asn)
c.1431A>C (p.Lys477Asn)
c.1416A>C (p.Lys472Asn)
8g.71216706T>ACA371466599EYA1c.1346A>T (p.Lys449Ile)
c.1244A>T (p.Lys415Ile)
c.1241A>T (p.Lys414Ile)
c.*625A>T (n.*625A>T)
c.736A>T
n.1809A>T
c.*1023A>T (n.*1023A>T)
c.1433A>T (p.Lys478Ile)
c.1328A>T (p.Lys443Ile)
n.416A>T
c.1325A>T (p.Lys442Ile)
c.1247A>T (p.Lys416Ile)
c.1343A>T (p.Lys448Ile)
c.*291A>T (n.*291A>T)
n.1841A>T
c.980A>T (p.Lys327Ile)
c.1418A>T (p.Lys473Ile)
c.1331A>T (p.Lys444Ile)
c.1283A>T (p.Lys428Ile)
c.995A>T (p.Lys332Ile)
c.1430A>T (p.Lys477Ile)
c.1415A>T (p.Lys472Ile)
8g.71216706T>CCA371466598EYA1c.1346A>G (p.Lys449Arg)
c.1244A>G (p.Lys415Arg)
c.1241A>G (p.Lys414Arg)
c.*625A>G (n.*625A>G)
c.736A>G
n.1809A>G
c.*1023A>G (n.*1023A>G)
c.1433A>G (p.Lys478Arg)
c.1328A>G (p.Lys443Arg)
n.416A>G
c.1325A>G (p.Lys442Arg)
c.1247A>G (p.Lys416Arg)
c.1343A>G (p.Lys448Arg)
c.*291A>G (n.*291A>G)
n.1841A>G
c.980A>G (p.Lys327Arg)
c.1418A>G (p.Lys473Arg)
c.1331A>G (p.Lys444Arg)
c.1283A>G (p.Lys428Arg)
c.995A>G (p.Lys332Arg)
c.1430A>G (p.Lys477Arg)
c.1415A>G (p.Lys472Arg)
 gnomAD v4
8g.71216706T>GCA371466597EYA1c.1346A>C (p.Lys449Thr)
c.1244A>C (p.Lys415Thr)
c.1241A>C (p.Lys414Thr)
c.*625A>C (n.*625A>C)
c.736A>C
n.1809A>C
c.*1023A>C (n.*1023A>C)
c.1433A>C (p.Lys478Thr)
c.1328A>C (p.Lys443Thr)
n.416A>C
c.1325A>C (p.Lys442Thr)
c.1247A>C (p.Lys416Thr)
c.1343A>C (p.Lys448Thr)
c.*291A>C (n.*291A>C)
n.1841A>C
c.980A>C (p.Lys327Thr)
c.1418A>C (p.Lys473Thr)
c.1331A>C (p.Lys444Thr)
c.1283A>C (p.Lys428Thr)
c.995A>C (p.Lys332Thr)
c.1430A>C (p.Lys477Thr)
c.1415A>C (p.Lys472Thr)
8g.71216712_71216720delCA2695209871EYA1c.1338_1346del (p.Asn446_Tyr448del)
c.1236_1244del (p.Asn412_Tyr414del)
c.1233_1241del (p.Asn411_Tyr413del)
c.*617_*625del (n.*617_*625del)
c.728_736del
n.1801_1809del
c.*1015_*1023del (n.*1015_*1023del)
c.1425_1433del (p.Asn475_Tyr477del)
c.1320_1328del (p.Asn440_Tyr442del)
n.408_416del
c.1317_1325del (p.Asn439_Tyr441del)
c.1239_1247del (p.Asn413_Tyr415del)
c.1335_1343del (p.Asn445_Tyr447del)
c.*283_*291del (n.*283_*291del)
n.1833_1841del
c.972_980del (p.Asn324_Tyr326del)
c.1410_1418del (p.Asn470_Tyr472del)
c.1323_1331del (p.Asn441_Tyr443del)
c.1275_1283del (p.Asn425_Tyr427del)
c.987_995del (p.Asn329_Tyr331del)
c.1422_1430del (p.Asn474_Tyr476del)
c.1407_1415del (p.Asn469_Tyr471del)
8g.71216707T>ACA371466600EYA1c.1345A>T (p.Lys449Ter)
c.1243A>T (p.Lys415Ter)
c.1240A>T (p.Lys414Ter)
c.*624A>T (n.*624A>T)
c.735A>T
n.1808A>T
c.*1022A>T (n.*1022A>T)
c.1432A>T (p.Lys478Ter)
c.1327A>T (p.Lys443Ter)
n.415A>T
c.1324A>T (p.Lys442Ter)
c.1246A>T (p.Lys416Ter)
c.1342A>T (p.Lys448Ter)
c.*290A>T (n.*290A>T)
n.1840A>T
c.979A>T (p.Lys327Ter)
c.1417A>T (p.Lys473Ter)
c.1330A>T (p.Lys444Ter)
c.1282A>T (p.Lys428Ter)
c.994A>T (p.Lys332Ter)
c.1429A>T (p.Lys477Ter)
c.1414A>T (p.Lys472Ter)
8g.71216707T>CCA371466602EYA1c.1345A>G (p.Lys449Glu)
c.1243A>G (p.Lys415Glu)
c.1240A>G (p.Lys414Glu)
c.*624A>G (n.*624A>G)
c.735A>G
n.1808A>G
c.*1022A>G (n.*1022A>G)
c.1432A>G (p.Lys478Glu)
c.1327A>G (p.Lys443Glu)
n.415A>G
c.1324A>G (p.Lys442Glu)
c.1246A>G (p.Lys416Glu)
c.1342A>G (p.Lys448Glu)
c.*290A>G (n.*290A>G)
n.1840A>G
c.979A>G (p.Lys327Glu)
c.1417A>G (p.Lys473Glu)
c.1330A>G (p.Lys444Glu)
c.1282A>G (p.Lys428Glu)
c.994A>G (p.Lys332Glu)
c.1429A>G (p.Lys477Glu)
c.1414A>G (p.Lys472Glu)
8g.71216707T>GCA371466601EYA1c.1345A>C (p.Lys449Gln)
c.1243A>C (p.Lys415Gln)
c.1240A>C (p.Lys414Gln)
c.*624A>C (n.*624A>C)
c.735A>C
n.1808A>C
c.*1022A>C (n.*1022A>C)
c.1432A>C (p.Lys478Gln)
c.1327A>C (p.Lys443Gln)
n.415A>C
c.1324A>C (p.Lys442Gln)
c.1246A>C (p.Lys416Gln)
c.1342A>C (p.Lys448Gln)
c.*290A>C (n.*290A>C)
n.1840A>C
c.979A>C (p.Lys327Gln)
c.1417A>C (p.Lys473Gln)
c.1330A>C (p.Lys444Gln)
c.1282A>C (p.Lys428Gln)
c.994A>C (p.Lys332Gln)
c.1429A>C (p.Lys477Gln)
c.1414A>C (p.Lys472Gln)
8g.71216708G>ACA461433831EYA1c.1344C>T (p.Tyr448=)
c.1242C>T (p.Tyr414=)
c.1239C>T (p.Tyr413=)
c.*623C>T (n.*623C>T)
c.734C>T
n.1807C>T
c.*1021C>T (n.*1021C>T)
c.1431C>T (p.Tyr477=)
c.1326C>T (p.Tyr442=)
n.414C>T
c.1323C>T (p.Tyr441=)
c.1245C>T (p.Tyr415=)
c.1341C>T (p.Tyr447=)
c.*289C>T (n.*289C>T)
n.1839C>T
c.978C>T (p.Tyr326=)
c.1416C>T (p.Tyr472=)
c.1329C>T (p.Tyr443=)
c.1281C>T (p.Tyr427=)
c.993C>T (p.Tyr331=)
c.1428C>T (p.Tyr476=)
c.1413C>T (p.Tyr471=)
8g.71216708G>CCA371466603EYA1c.1344C>G (p.Tyr448Ter)
c.1242C>G (p.Tyr414Ter)
c.1239C>G (p.Tyr413Ter)
c.*623C>G (n.*623C>G)
c.734C>G
n.1807C>G
c.*1021C>G (n.*1021C>G)
c.1431C>G (p.Tyr477Ter)
c.1326C>G (p.Tyr442Ter)
n.414C>G
c.1323C>G (p.Tyr441Ter)
c.1245C>G (p.Tyr415Ter)
c.1341C>G (p.Tyr447Ter)
c.*289C>G (n.*289C>G)
n.1839C>G
c.978C>G (p.Tyr326Ter)
c.1416C>G (p.Tyr472Ter)
c.1329C>G (p.Tyr443Ter)
c.1281C>G (p.Tyr427Ter)
c.993C>G (p.Tyr331Ter)
c.1428C>G (p.Tyr476Ter)
c.1413C>G (p.Tyr471Ter)
8g.71216708G>TCA371466604EYA1c.1344C>A (p.Tyr448Ter)
c.1242C>A (p.Tyr414Ter)
c.1239C>A (p.Tyr413Ter)
c.*623C>A (n.*623C>A)
c.734C>A
n.1807C>A
c.*1021C>A (n.*1021C>A)
c.1431C>A (p.Tyr477Ter)
c.1326C>A (p.Tyr442Ter)
n.414C>A
c.1323C>A (p.Tyr441Ter)
c.1245C>A (p.Tyr415Ter)
c.1341C>A (p.Tyr447Ter)
c.*289C>A (n.*289C>A)
n.1839C>A
c.978C>A (p.Tyr326Ter)
c.1416C>A (p.Tyr472Ter)
c.1329C>A (p.Tyr443Ter)
c.1281C>A (p.Tyr427Ter)
c.993C>A (p.Tyr331Ter)
c.1428C>A (p.Tyr476Ter)
c.1413C>A (p.Tyr471Ter)
8g.71216709T>ACA371466605EYA1c.1343A>T (p.Tyr448Phe)
c.1241A>T (p.Tyr414Phe)
c.1238A>T (p.Tyr413Phe)
c.*622A>T (n.*622A>T)
c.733A>T
n.1806A>T
c.*1020A>T (n.*1020A>T)
c.1430A>T (p.Tyr477Phe)
c.1325A>T (p.Tyr442Phe)
n.413A>T
c.1322A>T (p.Tyr441Phe)
c.1244A>T (p.Tyr415Phe)
c.1340A>T (p.Tyr447Phe)
c.*288A>T (n.*288A>T)
n.1838A>T
c.977A>T (p.Tyr326Phe)
c.1415A>T (p.Tyr472Phe)
c.1328A>T (p.Tyr443Phe)
c.1280A>T (p.Tyr427Phe)
c.992A>T (p.Tyr331Phe)
c.1427A>T (p.Tyr476Phe)
c.1412A>T (p.Tyr471Phe)
8g.71216709T>CCA4779495EYA1c.1343A>G (p.Tyr448Cys)
c.1241A>G (p.Tyr414Cys)
c.1238A>G (p.Tyr413Cys)
c.*622A>G (n.*622A>G)
c.733A>G
n.1806A>G
c.*1020A>G (n.*1020A>G)
c.1430A>G (p.Tyr477Cys)
c.1325A>G (p.Tyr442Cys)
n.413A>G
c.1322A>G (p.Tyr441Cys)
c.1244A>G (p.Tyr415Cys)
c.1340A>G (p.Tyr447Cys)
c.*288A>G (n.*288A>G)
n.1838A>G
c.977A>G (p.Tyr326Cys)
c.1415A>G (p.Tyr472Cys)
c.1328A>G (p.Tyr443Cys)
c.1280A>G (p.Tyr427Cys)
c.992A>G (p.Tyr331Cys)
c.1427A>G (p.Tyr476Cys)
c.1412A>G (p.Tyr471Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.71216709T>GCA371466606EYA1c.1343A>C (p.Tyr448Ser)
c.1241A>C (p.Tyr414Ser)
c.1238A>C (p.Tyr413Ser)
c.*622A>C (n.*622A>C)
c.733A>C
n.1806A>C
c.*1020A>C (n.*1020A>C)
c.1430A>C (p.Tyr477Ser)
c.1325A>C (p.Tyr442Ser)
n.413A>C
c.1322A>C (p.Tyr441Ser)
c.1244A>C (p.Tyr415Ser)
c.1340A>C (p.Tyr447Ser)
c.*288A>C (n.*288A>C)
n.1838A>C
c.977A>C (p.Tyr326Ser)
c.1415A>C (p.Tyr472Ser)
c.1328A>C (p.Tyr443Ser)
c.1280A>C (p.Tyr427Ser)
c.992A>C (p.Tyr331Ser)
c.1427A>C (p.Tyr476Ser)
c.1412A>C (p.Tyr471Ser)
8g.71216709T=CA1792692705EYA1c.1343A= (p.Tyr448=)
c.1241A= (p.Tyr414=)
c.1238A= (p.Tyr413=)
c.*622A= (n.*622A=)
c.733A=
n.1806A=
c.*1020A= (n.*1020A=)
c.1430A= (p.Tyr477=)
c.1325A= (p.Tyr442=)
n.413A=
c.1322A= (p.Tyr441=)
c.1244A= (p.Tyr415=)
c.1340A= (p.Tyr447=)
c.*288A= (n.*288A=)
n.1838A=
c.977A= (p.Tyr326=)
c.1415A= (p.Tyr472=)
c.1328A= (p.Tyr443=)
c.1280A= (p.Tyr427=)
c.992A= (p.Tyr331=)
c.1427A= (p.Tyr476=)
c.1412A= (p.Tyr471=)
8g.71216710A=CA1792692711EYA1c.1342T= (p.Tyr448=)
c.1240T= (p.Tyr414=)
c.1237T= (p.Tyr413=)
c.*621T= (n.*621T=)
c.732T=
n.1805T=
c.*1019T= (n.*1019T=)
c.1429T= (p.Tyr477=)
c.1324T= (p.Tyr442=)
n.412T=
c.1321T= (p.Tyr441=)
c.1243T= (p.Tyr415=)
c.1339T= (p.Tyr447=)
c.*287T= (n.*287T=)
n.1837T=
c.976T= (p.Tyr326=)
c.1414T= (p.Tyr472=)
c.1327T= (p.Tyr443=)
c.1279T= (p.Tyr427=)
c.991T= (p.Tyr331=)
c.1426T= (p.Tyr476=)
c.1411T= (p.Tyr471=)
8g.71216710A>CCA371466607EYA1c.1342T>G (p.Tyr448Asp)
c.1240T>G (p.Tyr414Asp)
c.1237T>G (p.Tyr413Asp)
c.*621T>G (n.*621T>G)
c.732T>G
n.1805T>G
c.*1019T>G (n.*1019T>G)
c.1429T>G (p.Tyr477Asp)
c.1324T>G (p.Tyr442Asp)
n.412T>G
c.1321T>G (p.Tyr441Asp)
c.1243T>G (p.Tyr415Asp)
c.1339T>G (p.Tyr447Asp)
c.*287T>G (n.*287T>G)
n.1837T>G
c.976T>G (p.Tyr326Asp)
c.1414T>G (p.Tyr472Asp)
c.1327T>G (p.Tyr443Asp)
c.1279T>G (p.Tyr427Asp)
c.991T>G (p.Tyr331Asp)
c.1426T>G (p.Tyr476Asp)
c.1411T>G (p.Tyr471Asp)
8g.71216710A>GCA179210007EYA1c.1342T>C (p.Tyr448His)
c.1240T>C (p.Tyr414His)
c.1237T>C (p.Tyr413His)
c.*621T>C (n.*621T>C)
c.732T>C
n.1805T>C
c.*1019T>C (n.*1019T>C)
c.1429T>C (p.Tyr477His)
c.1324T>C (p.Tyr442His)
n.412T>C
c.1321T>C (p.Tyr441His)
c.1243T>C (p.Tyr415His)
c.1339T>C (p.Tyr447His)
c.*287T>C (n.*287T>C)
n.1837T>C
c.976T>C (p.Tyr326His)
c.1414T>C (p.Tyr472His)
c.1327T>C (p.Tyr443His)
c.1279T>C (p.Tyr427His)
c.991T>C (p.Tyr331His)
c.1426T>C (p.Tyr476His)
c.1411T>C (p.Tyr471His)
 dbSNP gnomAD v3 gnomAD v4
8g.71216710A>TCA371466608EYA1c.1342T>A (p.Tyr448Asn)
c.1240T>A (p.Tyr414Asn)
c.1237T>A (p.Tyr413Asn)
c.*621T>A (n.*621T>A)
c.732T>A
n.1805T>A
c.*1019T>A (n.*1019T>A)
c.1429T>A (p.Tyr477Asn)
c.1324T>A (p.Tyr442Asn)
n.412T>A
c.1321T>A (p.Tyr441Asn)
c.1243T>A (p.Tyr415Asn)
c.1339T>A (p.Tyr447Asn)
c.*287T>A (n.*287T>A)
n.1837T>A
c.976T>A (p.Tyr326Asn)
c.1414T>A (p.Tyr472Asn)
c.1327T>A (p.Tyr443Asn)
c.1279T>A (p.Tyr427Asn)
c.991T>A (p.Tyr331Asn)
c.1426T>A (p.Tyr476Asn)
c.1411T>A (p.Tyr471Asn)
8g.71216711G>ACA461433836EYA1c.1341C>T (p.Thr447=)
c.1239C>T (p.Thr413=)
c.1236C>T (p.Thr412=)
c.*620C>T (n.*620C>T)
c.731C>T
n.1804C>T
c.*1018C>T (n.*1018C>T)
c.1428C>T (p.Thr476=)
c.1323C>T (p.Thr441=)
n.411C>T
c.1320C>T (p.Thr440=)
c.1242C>T (p.Thr414=)
c.1338C>T (p.Thr446=)
c.*286C>T (n.*286C>T)
n.1836C>T
c.975C>T (p.Thr325=)
c.1413C>T (p.Thr471=)
c.1326C>T (p.Thr442=)
c.1278C>T (p.Thr426=)
c.990C>T (p.Thr330=)
c.1425C>T (p.Thr475=)
c.1410C>T (p.Thr470=)
8g.71216711G>CCA4779496EYA1c.1341C>G (p.Thr447=)
c.1239C>G (p.Thr413=)
c.1236C>G (p.Thr412=)
c.*620C>G (n.*620C>G)
c.731C>G
n.1804C>G
c.*1018C>G (n.*1018C>G)
c.1428C>G (p.Thr476=)
c.1323C>G (p.Thr441=)
n.411C>G
c.1320C>G (p.Thr440=)
c.1242C>G (p.Thr414=)
c.1338C>G (p.Thr446=)
c.*286C>G (n.*286C>G)
n.1836C>G
c.975C>G (p.Thr325=)
c.1413C>G (p.Thr471=)
c.1326C>G (p.Thr442=)
c.1278C>G (p.Thr426=)
c.990C>G (p.Thr330=)
c.1425C>G (p.Thr475=)
c.1410C>G (p.Thr470=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.71216711G=CA1792692714EYA1c.1341C= (p.Thr447=)
c.1239C= (p.Thr413=)
c.1236C= (p.Thr412=)
c.*620C= (n.*620C=)
c.731C=
n.1804C=
c.*1018C= (n.*1018C=)
c.1428C= (p.Thr476=)
c.1323C= (p.Thr441=)
n.411C=
c.1320C= (p.Thr440=)
c.1242C= (p.Thr414=)
c.1338C= (p.Thr446=)
c.*286C= (n.*286C=)
n.1836C=
c.975C= (p.Thr325=)
c.1413C= (p.Thr471=)
c.1326C= (p.Thr442=)
c.1278C= (p.Thr426=)
c.990C= (p.Thr330=)
c.1425C= (p.Thr475=)
c.1410C= (p.Thr470=)
8g.71216711G>TCA461433837EYA1c.1341C>A (p.Thr447=)
c.1239C>A (p.Thr413=)
c.1236C>A (p.Thr412=)
c.*620C>A (n.*620C>A)
c.731C>A
n.1804C>A
c.*1018C>A (n.*1018C>A)
c.1428C>A (p.Thr476=)
c.1323C>A (p.Thr441=)
n.411C>A
c.1320C>A (p.Thr440=)
c.1242C>A (p.Thr414=)
c.1338C>A (p.Thr446=)
c.*286C>A (n.*286C>A)
n.1836C>A
c.975C>A (p.Thr325=)
c.1413C>A (p.Thr471=)
c.1326C>A (p.Thr442=)
c.1278C>A (p.Thr426=)
c.990C>A (p.Thr330=)
c.1425C>A (p.Thr475=)
c.1410C>A (p.Thr470=)
 gnomAD v4
8g.71216712G>ACA4779497EYA1c.1340C>T (p.Thr447Ile)
c.1238C>T (p.Thr413Ile)
c.1235C>T (p.Thr412Ile)
c.*619C>T (n.*619C>T)
c.730C>T
n.1803C>T
c.*1017C>T (n.*1017C>T)
c.1427C>T (p.Thr476Ile)
c.1322C>T (p.Thr441Ile)
n.410C>T
c.1319C>T (p.Thr440Ile)
c.1241C>T (p.Thr414Ile)
c.1337C>T (p.Thr446Ile)
c.*285C>T (n.*285C>T)
n.1835C>T
c.974C>T (p.Thr325Ile)
c.1412C>T (p.Thr471Ile)
c.1325C>T (p.Thr442Ile)
c.1277C>T (p.Thr426Ile)
c.989C>T (p.Thr330Ile)
c.1424C>T (p.Thr475Ile)
c.1409C>T (p.Thr470Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.71216712G>CCA371466609EYA1c.1340C>G (p.Thr447Ser)
c.1238C>G (p.Thr413Ser)
c.1235C>G (p.Thr412Ser)
c.*619C>G (n.*619C>G)
c.730C>G
n.1803C>G
c.*1017C>G (n.*1017C>G)
c.1427C>G (p.Thr476Ser)
c.1322C>G (p.Thr441Ser)
n.410C>G
c.1319C>G (p.Thr440Ser)
c.1241C>G (p.Thr414Ser)
c.1337C>G (p.Thr446Ser)
c.*285C>G (n.*285C>G)
n.1835C>G
c.974C>G (p.Thr325Ser)
c.1412C>G (p.Thr471Ser)
c.1325C>G (p.Thr442Ser)
c.1277C>G (p.Thr426Ser)
c.989C>G (p.Thr330Ser)
c.1424C>G (p.Thr475Ser)
c.1409C>G (p.Thr470Ser)
8g.71216712G=CA1792692719EYA1c.1340C= (p.Thr447=)
c.1238C= (p.Thr413=)
c.1235C= (p.Thr412=)
c.*619C= (n.*619C=)
c.730C=
n.1803C=
c.*1017C= (n.*1017C=)
c.1427C= (p.Thr476=)
c.1322C= (p.Thr441=)
n.410C=
c.1319C= (p.Thr440=)
c.1241C= (p.Thr414=)
c.1337C= (p.Thr446=)
c.*285C= (n.*285C=)
n.1835C=
c.974C= (p.Thr325=)
c.1412C= (p.Thr471=)
c.1325C= (p.Thr442=)
c.1277C= (p.Thr426=)
c.989C= (p.Thr330=)
c.1424C= (p.Thr475=)
c.1409C= (p.Thr470=)
8g.71216712G>TCA371466610EYA1c.1340C>A (p.Thr447Asn)
c.1238C>A (p.Thr413Asn)
c.1235C>A (p.Thr412Asn)
c.*619C>A (n.*619C>A)
c.730C>A
n.1803C>A
c.*1017C>A (n.*1017C>A)
c.1427C>A (p.Thr476Asn)
c.1322C>A (p.Thr441Asn)
n.410C>A
c.1319C>A (p.Thr440Asn)
c.1241C>A (p.Thr414Asn)
c.1337C>A (p.Thr446Asn)
c.*285C>A (n.*285C>A)
n.1835C>A
c.974C>A (p.Thr325Asn)
c.1412C>A (p.Thr471Asn)
c.1325C>A (p.Thr442Asn)
c.1277C>A (p.Thr426Asn)
c.989C>A (p.Thr330Asn)
c.1424C>A (p.Thr475Asn)
c.1409C>A (p.Thr470Asn)
8g.71216713T>ACA371466612EYA1c.1339A>T (p.Thr447Ser)
c.1237A>T (p.Thr413Ser)
c.1234A>T (p.Thr412Ser)
c.*618A>T (n.*618A>T)
c.729A>T
n.1802A>T
c.*1016A>T (n.*1016A>T)
c.1426A>T (p.Thr476Ser)
c.1321A>T (p.Thr441Ser)
n.409A>T
c.1318A>T (p.Thr440Ser)
c.1240A>T (p.Thr414Ser)
c.1336A>T (p.Thr446Ser)
c.*284A>T (n.*284A>T)
n.1834A>T
c.973A>T (p.Thr325Ser)
c.1411A>T (p.Thr471Ser)
c.1324A>T (p.Thr442Ser)
c.1276A>T (p.Thr426Ser)
c.988A>T (p.Thr330Ser)
c.1423A>T (p.Thr475Ser)
c.1408A>T (p.Thr470Ser)
 gnomAD v4
8g.71216713T>CCA4779498EYA1c.1339A>G (p.Thr447Ala)
c.1237A>G (p.Thr413Ala)
c.1234A>G (p.Thr412Ala)
c.*618A>G (n.*618A>G)
c.729A>G
n.1802A>G
c.*1016A>G (n.*1016A>G)
c.1426A>G (p.Thr476Ala)
c.1321A>G (p.Thr441Ala)
n.409A>G
c.1318A>G (p.Thr440Ala)
c.1240A>G (p.Thr414Ala)
c.1336A>G (p.Thr446Ala)
c.*284A>G (n.*284A>G)
n.1834A>G
c.973A>G (p.Thr325Ala)
c.1411A>G (p.Thr471Ala)
c.1324A>G (p.Thr442Ala)
c.1276A>G (p.Thr426Ala)
c.988A>G (p.Thr330Ala)
c.1423A>G (p.Thr475Ala)
c.1408A>G (p.Thr470Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.71216713T>GCA371466611EYA1c.1339A>C (p.Thr447Pro)
c.1237A>C (p.Thr413Pro)
c.1234A>C (p.Thr412Pro)
c.*618A>C (n.*618A>C)
c.729A>C
n.1802A>C
c.*1016A>C (n.*1016A>C)
c.1426A>C (p.Thr476Pro)
c.1321A>C (p.Thr441Pro)
n.409A>C
c.1318A>C (p.Thr440Pro)
c.1240A>C (p.Thr414Pro)
c.1336A>C (p.Thr446Pro)
c.*284A>C (n.*284A>C)
n.1834A>C
c.973A>C (p.Thr325Pro)
c.1411A>C (p.Thr471Pro)
c.1324A>C (p.Thr442Pro)
c.1276A>C (p.Thr426Pro)
c.988A>C (p.Thr330Pro)
c.1423A>C (p.Thr475Pro)
c.1408A>C (p.Thr470Pro)
8g.71216713T=CA1792692721EYA1c.1339A= (p.Thr447=)
c.1237A= (p.Thr413=)
c.1234A= (p.Thr412=)
c.*618A= (n.*618A=)
c.729A=
n.1802A=
c.*1016A= (n.*1016A=)
c.1426A= (p.Thr476=)
c.1321A= (p.Thr441=)
n.409A=
c.1318A= (p.Thr440=)
c.1240A= (p.Thr414=)
c.1336A= (p.Thr446=)
c.*284A= (n.*284A=)
n.1834A=
c.973A= (p.Thr325=)
c.1411A= (p.Thr471=)
c.1324A= (p.Thr442=)
c.1276A= (p.Thr426=)
c.988A= (p.Thr330=)
c.1423A= (p.Thr475=)
c.1408A= (p.Thr470=)
8g.71216714G>ACA4779499EYA1c.1338C>T (p.Asn446=)
c.1236C>T (p.Asn412=)
c.1233C>T (p.Asn411=)
c.*617C>T (n.*617C>T)
c.728C>T
n.1801C>T
c.*1015C>T (n.*1015C>T)
c.1425C>T (p.Asn475=)
c.1320C>T (p.Asn440=)
n.408C>T
c.1317C>T (p.Asn439=)
c.1239C>T (p.Asn413=)
c.1335C>T (p.Asn445=)
c.*283C>T (n.*283C>T)
n.1833C>T
c.972C>T (p.Asn324=)
c.1410C>T (p.Asn470=)
c.1323C>T (p.Asn441=)
c.1275C>T (p.Asn425=)
c.987C>T (p.Asn329=)
c.1422C>T (p.Asn474=)
c.1407C>T (p.Asn469=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.71216714G>CCA371466613EYA1c.1338C>G (p.Asn446Lys)
c.1236C>G (p.Asn412Lys)
c.1233C>G (p.Asn411Lys)
c.*617C>G (n.*617C>G)
c.728C>G
n.1801C>G
c.*1015C>G (n.*1015C>G)
c.1425C>G (p.Asn475Lys)
c.1320C>G (p.Asn440Lys)
n.408C>G
c.1317C>G (p.Asn439Lys)
c.1239C>G (p.Asn413Lys)
c.1335C>G (p.Asn445Lys)
c.*283C>G (n.*283C>G)
n.1833C>G
c.972C>G (p.Asn324Lys)
c.1410C>G (p.Asn470Lys)
c.1323C>G (p.Asn441Lys)
c.1275C>G (p.Asn425Lys)
c.987C>G (p.Asn329Lys)
c.1422C>G (p.Asn474Lys)
c.1407C>G (p.Asn469Lys)
8g.71216714G=CA1792692724EYA1c.1338C= (p.Asn446=)
c.1236C= (p.Asn412=)
c.1233C= (p.Asn411=)
c.*617C= (n.*617C=)
c.728C=
n.1801C=
c.*1015C= (n.*1015C=)
c.1425C= (p.Asn475=)
c.1320C= (p.Asn440=)
n.408C=
c.1317C= (p.Asn439=)
c.1239C= (p.Asn413=)
c.1335C= (p.Asn445=)
c.*283C= (n.*283C=)
n.1833C=
c.972C= (p.Asn324=)
c.1410C= (p.Asn470=)
c.1323C= (p.Asn441=)
c.1275C= (p.Asn425=)
c.987C= (p.Asn329=)
c.1422C= (p.Asn474=)
c.1407C= (p.Asn469=)
8g.71216714G>TCA371466614EYA1c.1338C>A (p.Asn446Lys)
c.1236C>A (p.Asn412Lys)
c.1233C>A (p.Asn411Lys)
c.*617C>A (n.*617C>A)
c.728C>A
n.1801C>A
c.*1015C>A (n.*1015C>A)
c.1425C>A (p.Asn475Lys)
c.1320C>A (p.Asn440Lys)
n.408C>A
c.1317C>A (p.Asn439Lys)
c.1239C>A (p.Asn413Lys)
c.1335C>A (p.Asn445Lys)
c.*283C>A (n.*283C>A)
n.1833C>A
c.972C>A (p.Asn324Lys)
c.1410C>A (p.Asn470Lys)
c.1323C>A (p.Asn441Lys)
c.1275C>A (p.Asn425Lys)
c.987C>A (p.Asn329Lys)
c.1422C>A (p.Asn474Lys)
c.1407C>A (p.Asn469Lys)
8g.71216715T>ACA371466615EYA1c.1337A>T (p.Asn446Ile)
c.1235A>T (p.Asn412Ile)
c.1232A>T (p.Asn411Ile)
c.*616A>T (n.*616A>T)
c.727A>T
n.1800A>T
c.*1014A>T (n.*1014A>T)
c.1424A>T (p.Asn475Ile)
c.1319A>T (p.Asn440Ile)
n.407A>T
c.1316A>T (p.Asn439Ile)
c.1238A>T (p.Asn413Ile)
c.1334A>T (p.Asn445Ile)
c.*282A>T (n.*282A>T)
n.1832A>T
c.971A>T (p.Asn324Ile)
c.1409A>T (p.Asn470Ile)
c.1322A>T (p.Asn441Ile)
c.1274A>T (p.Asn425Ile)
c.986A>T (p.Asn329Ile)
c.1421A>T (p.Asn474Ile)
c.1406A>T (p.Asn469Ile)
8g.71216715T>CCA371466616EYA1c.1337A>G (p.Asn446Ser)
c.1235A>G (p.Asn412Ser)
c.1232A>G (p.Asn411Ser)
c.*616A>G (n.*616A>G)
c.727A>G
n.1800A>G
c.*1014A>G (n.*1014A>G)
c.1424A>G (p.Asn475Ser)
c.1319A>G (p.Asn440Ser)
n.407A>G
c.1316A>G (p.Asn439Ser)
c.1238A>G (p.Asn413Ser)
c.1334A>G (p.Asn445Ser)
c.*282A>G (n.*282A>G)
n.1832A>G
c.971A>G (p.Asn324Ser)
c.1409A>G (p.Asn470Ser)
c.1322A>G (p.Asn441Ser)
c.1274A>G (p.Asn425Ser)
c.986A>G (p.Asn329Ser)
c.1421A>G (p.Asn474Ser)
c.1406A>G (p.Asn469Ser)
 dbSNP gnomAD v3 gnomAD v4
8g.71216715T>GCA371466617EYA1c.1337A>C (p.Asn446Thr)
c.1235A>C (p.Asn412Thr)
c.1232A>C (p.Asn411Thr)
c.*616A>C (n.*616A>C)
c.727A>C
n.1800A>C
c.*1014A>C (n.*1014A>C)
c.1424A>C (p.Asn475Thr)
c.1319A>C (p.Asn440Thr)
n.407A>C
c.1316A>C (p.Asn439Thr)
c.1238A>C (p.Asn413Thr)
c.1334A>C (p.Asn445Thr)
c.*282A>C (n.*282A>C)
n.1832A>C
c.971A>C (p.Asn324Thr)
c.1409A>C (p.Asn470Thr)
c.1322A>C (p.Asn441Thr)
c.1274A>C (p.Asn425Thr)
c.986A>C (p.Asn329Thr)
c.1421A>C (p.Asn474Thr)
c.1406A>C (p.Asn469Thr)
8g.71216715T=CA1792692727EYA1c.1337A= (p.Asn446=)
c.1235A= (p.Asn412=)
c.1232A= (p.Asn411=)
c.*616A= (n.*616A=)
c.727A=
n.1800A=
c.*1014A= (n.*1014A=)
c.1424A= (p.Asn475=)
c.1319A= (p.Asn440=)
n.407A=
c.1316A= (p.Asn439=)
c.1238A= (p.Asn413=)
c.1334A= (p.Asn445=)
c.*282A= (n.*282A=)
n.1832A=
c.971A= (p.Asn324=)
c.1409A= (p.Asn470=)
c.1322A= (p.Asn441=)
c.1274A= (p.Asn425=)
c.986A= (p.Asn329=)
c.1421A= (p.Asn474=)
c.1406A= (p.Asn469=)
8g.71216716T>ACA371466618EYA1c.1336A>T (p.Asn446Tyr)
c.1234A>T (p.Asn412Tyr)
c.1231A>T (p.Asn411Tyr)
c.*615A>T (n.*615A>T)
c.726A>T
n.1799A>T
c.*1013A>T (n.*1013A>T)
c.1423A>T (p.Asn475Tyr)
c.1318A>T (p.Asn440Tyr)
n.406A>T
c.1315A>T (p.Asn439Tyr)
c.1237A>T (p.Asn413Tyr)
c.1333A>T (p.Asn445Tyr)
c.*281A>T (n.*281A>T)
n.1831A>T
c.970A>T (p.Asn324Tyr)
c.1408A>T (p.Asn470Tyr)
c.1321A>T (p.Asn441Tyr)
c.1273A>T (p.Asn425Tyr)
c.985A>T (p.Asn329Tyr)
c.1420A>T (p.Asn474Tyr)
c.1405A>T (p.Asn469Tyr)
8g.71216716T>CCA371466619EYA1c.1336A>G (p.Asn446Asp)
c.1234A>G (p.Asn412Asp)
c.1231A>G (p.Asn411Asp)
c.*615A>G (n.*615A>G)
c.726A>G
n.1799A>G
c.*1013A>G (n.*1013A>G)
c.1423A>G (p.Asn475Asp)
c.1318A>G (p.Asn440Asp)
n.406A>G
c.1315A>G (p.Asn439Asp)
c.1237A>G (p.Asn413Asp)
c.1333A>G (p.Asn445Asp)
c.*281A>G (n.*281A>G)
n.1831A>G
c.970A>G (p.Asn324Asp)
c.1408A>G (p.Asn470Asp)
c.1321A>G (p.Asn441Asp)
c.1273A>G (p.Asn425Asp)
c.985A>G (p.Asn329Asp)
c.1420A>G (p.Asn474Asp)
c.1405A>G (p.Asn469Asp)
8g.71216716T>GCA371466620EYA1c.1336A>C (p.Asn446His)
c.1234A>C (p.Asn412His)
c.1231A>C (p.Asn411His)
c.*615A>C (n.*615A>C)
c.726A>C
n.1799A>C
c.*1013A>C (n.*1013A>C)
c.1423A>C (p.Asn475His)
c.1318A>C (p.Asn440His)
n.406A>C
c.1315A>C (p.Asn439His)
c.1237A>C (p.Asn413His)
c.1333A>C (p.Asn445His)
c.*281A>C (n.*281A>C)
n.1831A>C
c.970A>C (p.Asn324His)
c.1408A>C (p.Asn470His)
c.1321A>C (p.Asn441His)
c.1273A>C (p.Asn425His)
c.985A>C (p.Asn329His)
c.1420A>C (p.Asn474His)
c.1405A>C (p.Asn469His)
8g.71216717G>ACA461433849EYA1c.1335C>T (p.Tyr445=)
c.1233C>T (p.Tyr411=)
c.1230C>T (p.Tyr410=)
c.*614C>T (n.*614C>T)
c.725C>T
n.1798C>T
c.*1012C>T (n.*1012C>T)
c.1422C>T (p.Tyr474=)
c.1317C>T (p.Tyr439=)
n.405C>T
c.1314C>T (p.Tyr438=)
c.1236C>T (p.Tyr412=)
c.1332C>T (p.Tyr444=)
c.*280C>T (n.*280C>T)
n.1830C>T
c.969C>T (p.Tyr323=)
c.1407C>T (p.Tyr469=)
c.1320C>T (p.Tyr440=)
c.1272C>T (p.Tyr424=)
c.984C>T (p.Tyr328=)
c.1419C>T (p.Tyr473=)
c.1404C>T (p.Tyr468=)
 gnomAD v4
8g.71216717G>CCA371466621EYA1c.1335C>G (p.Tyr445Ter)
c.1233C>G (p.Tyr411Ter)
c.1230C>G (p.Tyr410Ter)
c.*614C>G (n.*614C>G)
c.725C>G
n.1798C>G
c.*1012C>G (n.*1012C>G)
c.1422C>G (p.Tyr474Ter)
c.1317C>G (p.Tyr439Ter)
n.405C>G
c.1314C>G (p.Tyr438Ter)
c.1236C>G (p.Tyr412Ter)
c.1332C>G (p.Tyr444Ter)
c.*280C>G (n.*280C>G)
n.1830C>G
c.969C>G (p.Tyr323Ter)
c.1407C>G (p.Tyr469Ter)
c.1320C>G (p.Tyr440Ter)
c.1272C>G (p.Tyr424Ter)
c.984C>G (p.Tyr328Ter)
c.1419C>G (p.Tyr473Ter)
c.1404C>G (p.Tyr468Ter)
8g.71216717G>TCA371466622EYA1c.1335C>A (p.Tyr445Ter)
c.1233C>A (p.Tyr411Ter)
c.1230C>A (p.Tyr410Ter)
c.*614C>A (n.*614C>A)
c.725C>A
n.1798C>A
c.*1012C>A (n.*1012C>A)
c.1422C>A (p.Tyr474Ter)
c.1317C>A (p.Tyr439Ter)
n.405C>A
c.1314C>A (p.Tyr438Ter)
c.1236C>A (p.Tyr412Ter)
c.1332C>A (p.Tyr444Ter)
c.*280C>A (n.*280C>A)
n.1830C>A
c.969C>A (p.Tyr323Ter)
c.1407C>A (p.Tyr469Ter)
c.1320C>A (p.Tyr440Ter)
c.1272C>A (p.Tyr424Ter)
c.984C>A (p.Tyr328Ter)
c.1419C>A (p.Tyr473Ter)
c.1404C>A (p.Tyr468Ter)
8g.71216718T>ACA371466625EYA1c.1334A>T (p.Tyr445Phe)
c.1232A>T (p.Tyr411Phe)
c.1229A>T (p.Tyr410Phe)
c.*613A>T (n.*613A>T)
c.724A>T
n.1797A>T
c.*1011A>T (n.*1011A>T)
c.1421A>T (p.Tyr474Phe)
c.1316A>T (p.Tyr439Phe)
n.404A>T
c.1313A>T (p.Tyr438Phe)
c.1235A>T (p.Tyr412Phe)
c.1331A>T (p.Tyr444Phe)
c.*279A>T (n.*279A>T)
n.1829A>T
c.968A>T (p.Tyr323Phe)
c.1406A>T (p.Tyr469Phe)
c.1319A>T (p.Tyr440Phe)
c.1271A>T (p.Tyr424Phe)
c.983A>T (p.Tyr328Phe)
c.1418A>T (p.Tyr473Phe)
c.1403A>T (p.Tyr468Phe)
8g.71216718T>CCA371466624EYA1c.1334A>G (p.Tyr445Cys)
c.1232A>G (p.Tyr411Cys)
c.1229A>G (p.Tyr410Cys)
c.*613A>G (n.*613A>G)
c.724A>G
n.1797A>G
c.*1011A>G (n.*1011A>G)
c.1421A>G (p.Tyr474Cys)
c.1316A>G (p.Tyr439Cys)
n.404A>G
c.1313A>G (p.Tyr438Cys)
c.1235A>G (p.Tyr412Cys)
c.1331A>G (p.Tyr444Cys)
c.*279A>G (n.*279A>G)
n.1829A>G
c.968A>G (p.Tyr323Cys)
c.1406A>G (p.Tyr469Cys)
c.1319A>G (p.Tyr440Cys)
c.1271A>G (p.Tyr424Cys)
c.983A>G (p.Tyr328Cys)
c.1418A>G (p.Tyr473Cys)
c.1403A>G (p.Tyr468Cys)
 dbSNP gnomAD v2 gnomAD v4
8g.71216718T>GCA371466623EYA1c.1334A>C (p.Tyr445Ser)
c.1232A>C (p.Tyr411Ser)
c.1229A>C (p.Tyr410Ser)
c.*613A>C (n.*613A>C)
c.724A>C
n.1797A>C
c.*1011A>C (n.*1011A>C)
c.1421A>C (p.Tyr474Ser)
c.1316A>C (p.Tyr439Ser)
n.404A>C
c.1313A>C (p.Tyr438Ser)
c.1235A>C (p.Tyr412Ser)
c.1331A>C (p.Tyr444Ser)
c.*279A>C (n.*279A>C)
n.1829A>C
c.968A>C (p.Tyr323Ser)
c.1406A>C (p.Tyr469Ser)
c.1319A>C (p.Tyr440Ser)
c.1271A>C (p.Tyr424Ser)
c.983A>C (p.Tyr328Ser)
c.1418A>C (p.Tyr473Ser)
c.1403A>C (p.Tyr468Ser)
8g.71216718T=CA1792692729EYA1c.1334A= (p.Tyr445=)
c.1232A= (p.Tyr411=)
c.1229A= (p.Tyr410=)
c.*613A= (n.*613A=)
c.724A=
n.1797A=
c.*1011A= (n.*1011A=)
c.1421A= (p.Tyr474=)
c.1316A= (p.Tyr439=)
n.404A=
c.1313A= (p.Tyr438=)
c.1235A= (p.Tyr412=)
c.1331A= (p.Tyr444=)
c.*279A= (n.*279A=)
n.1829A=
c.968A= (p.Tyr323=)
c.1406A= (p.Tyr469=)
c.1319A= (p.Tyr440=)
c.1271A= (p.Tyr424=)
c.983A= (p.Tyr328=)
c.1418A= (p.Tyr473=)
c.1403A= (p.Tyr468=)
8g.71216719A>CCA371466626EYA1c.1333T>G (p.Tyr445Asp)
c.1231T>G (p.Tyr411Asp)
c.1228T>G (p.Tyr410Asp)
c.*612T>G (n.*612T>G)
c.723T>G
n.1796T>G
c.*1010T>G (n.*1010T>G)
c.1420T>G (p.Tyr474Asp)
c.1315T>G (p.Tyr439Asp)
n.403T>G
c.1312T>G (p.Tyr438Asp)
c.1234T>G (p.Tyr412Asp)
c.1330T>G (p.Tyr444Asp)
c.*278T>G (n.*278T>G)
n.1828T>G
c.967T>G (p.Tyr323Asp)
c.1405T>G (p.Tyr469Asp)
c.1318T>G (p.Tyr440Asp)
c.1270T>G (p.Tyr424Asp)
c.982T>G (p.Tyr328Asp)
c.1417T>G (p.Tyr473Asp)
c.1402T>G (p.Tyr468Asp)
8g.71216719A>GCA371466627EYA1c.1333T>C (p.Tyr445His)
c.1231T>C (p.Tyr411His)
c.1228T>C (p.Tyr410His)
c.*612T>C (n.*612T>C)
c.723T>C
n.1796T>C
c.*1010T>C (n.*1010T>C)
c.1420T>C (p.Tyr474His)
c.1315T>C (p.Tyr439His)
n.403T>C
c.1312T>C (p.Tyr438His)
c.1234T>C (p.Tyr412His)
c.1330T>C (p.Tyr444His)
c.*278T>C (n.*278T>C)
n.1828T>C
c.967T>C (p.Tyr323His)
c.1405T>C (p.Tyr469His)
c.1318T>C (p.Tyr440His)
c.1270T>C (p.Tyr424His)
c.982T>C (p.Tyr328His)
c.1417T>C (p.Tyr473His)
c.1402T>C (p.Tyr468His)
8g.71216719A>TCA371466628EYA1c.1333T>A (p.Tyr445Asn)
c.1231T>A (p.Tyr411Asn)
c.1228T>A (p.Tyr410Asn)
c.*612T>A (n.*612T>A)
c.723T>A
n.1796T>A
c.*1010T>A (n.*1010T>A)
c.1420T>A (p.Tyr474Asn)
c.1315T>A (p.Tyr439Asn)
n.403T>A
c.1312T>A (p.Tyr438Asn)
c.1234T>A (p.Tyr412Asn)
c.1330T>A (p.Tyr444Asn)
c.*278T>A (n.*278T>A)
n.1828T>A
c.967T>A (p.Tyr323Asn)
c.1405T>A (p.Tyr469Asn)
c.1318T>A (p.Tyr440Asn)
c.1270T>A (p.Tyr424Asn)
c.982T>A (p.Tyr328Asn)
c.1417T>A (p.Tyr473Asn)
c.1402T>A (p.Tyr468Asn)
8g.71216720G>ACA461433861EYA1c.1332C>T (p.Ile444=)
c.1230C>T (p.Ile410=)
c.1227C>T (p.Ile409=)
c.*611C>T (n.*611C>T)
c.722C>T
n.1795C>T
c.*1009C>T (n.*1009C>T)
c.1419C>T (p.Ile473=)
c.1314C>T (p.Ile438=)
n.402C>T
c.1311C>T (p.Ile437=)
c.1233C>T (p.Ile411=)
c.1329C>T (p.Ile443=)
c.*277C>T (n.*277C>T)
n.1827C>T
c.966C>T (p.Ile322=)
c.1404C>T (p.Ile468=)
c.1317C>T (p.Ile439=)
c.1269C>T (p.Ile423=)
c.981C>T (p.Ile327=)
c.1416C>T (p.Ile472=)
c.1401C>T (p.Ile467=)
8g.71216720G>CCA371466629EYA1c.1332C>G (p.Ile444Met)
c.1230C>G (p.Ile410Met)
c.1227C>G (p.Ile409Met)
c.*611C>G (n.*611C>G)
c.722C>G
n.1795C>G
c.*1009C>G (n.*1009C>G)
c.1419C>G (p.Ile473Met)
c.1314C>G (p.Ile438Met)
n.402C>G
c.1311C>G (p.Ile437Met)
c.1233C>G (p.Ile411Met)
c.1329C>G (p.Ile443Met)
c.*277C>G (n.*277C>G)
n.1827C>G
c.966C>G (p.Ile322Met)
c.1404C>G (p.Ile468Met)
c.1317C>G (p.Ile439Met)
c.1269C>G (p.Ile423Met)
c.981C>G (p.Ile327Met)
c.1416C>G (p.Ile472Met)
c.1401C>G (p.Ile467Met)
8g.71216720G>TCA461433864EYA1c.1332C>A (p.Ile444=)
c.1230C>A (p.Ile410=)
c.1227C>A (p.Ile409=)
c.*611C>A (n.*611C>A)
c.722C>A
n.1795C>A
c.*1009C>A (n.*1009C>A)
c.1419C>A (p.Ile473=)
c.1314C>A (p.Ile438=)
n.402C>A
c.1311C>A (p.Ile437=)
c.1233C>A (p.Ile411=)
c.1329C>A (p.Ile443=)
c.*277C>A (n.*277C>A)
n.1827C>A
c.966C>A (p.Ile322=)
c.1404C>A (p.Ile468=)
c.1317C>A (p.Ile439=)
c.1269C>A (p.Ile423=)
c.981C>A (p.Ile327=)
c.1416C>A (p.Ile472=)
c.1401C>A (p.Ile467=)
8g.71216721A>CCA371466630EYA1c.1331T>G (p.Ile444Ser)
c.1229T>G (p.Ile410Ser)
c.1226T>G (p.Ile409Ser)
c.*610T>G (n.*610T>G)
c.721T>G
n.1794T>G
c.*1008T>G (n.*1008T>G)
c.1418T>G (p.Ile473Ser)
c.1313T>G (p.Ile438Ser)
n.401T>G
c.1310T>G (p.Ile437Ser)
c.1232T>G (p.Ile411Ser)
c.1328T>G (p.Ile443Ser)
c.*276T>G (n.*276T>G)
n.1826T>G
c.965T>G (p.Ile322Ser)
c.1403T>G (p.Ile468Ser)
c.1316T>G (p.Ile439Ser)
c.1268T>G (p.Ile423Ser)
c.980T>G (p.Ile327Ser)
c.1415T>G (p.Ile472Ser)
c.1400T>G (p.Ile467Ser)
8g.71216721A>GCA371466631EYA1c.1331T>C (p.Ile444Thr)
c.1229T>C (p.Ile410Thr)
c.1226T>C (p.Ile409Thr)
c.*610T>C (n.*610T>C)
c.721T>C
n.1794T>C
c.*1008T>C (n.*1008T>C)
c.1418T>C (p.Ile473Thr)
c.1313T>C (p.Ile438Thr)
n.401T>C
c.1310T>C (p.Ile437Thr)
c.1232T>C (p.Ile411Thr)
c.1328T>C (p.Ile443Thr)
c.*276T>C (n.*276T>C)
n.1826T>C
c.965T>C (p.Ile322Thr)
c.1403T>C (p.Ile468Thr)
c.1316T>C (p.Ile439Thr)
c.1268T>C (p.Ile423Thr)
c.980T>C (p.Ile327Thr)
c.1415T>C (p.Ile472Thr)
c.1400T>C (p.Ile467Thr)
8g.71216721A>TCA371466632EYA1c.1331T>A (p.Ile444Asn)
c.1229T>A (p.Ile410Asn)
c.1226T>A (p.Ile409Asn)
c.*610T>A (n.*610T>A)
c.721T>A
n.1794T>A
c.*1008T>A (n.*1008T>A)
c.1418T>A (p.Ile473Asn)
c.1313T>A (p.Ile438Asn)
n.401T>A
c.1310T>A (p.Ile437Asn)
c.1232T>A (p.Ile411Asn)
c.1328T>A (p.Ile443Asn)
c.*276T>A (n.*276T>A)
n.1826T>A
c.965T>A (p.Ile322Asn)
c.1403T>A (p.Ile468Asn)
c.1316T>A (p.Ile439Asn)
c.1268T>A (p.Ile423Asn)
c.980T>A (p.Ile327Asn)
c.1415T>A (p.Ile472Asn)
c.1400T>A (p.Ile467Asn)
8g.71216721_71216722dupCA2695209872EYA1c.1330_1331dup (p.Tyr445SerfsTer24)
c.1228_1229dup (p.Tyr411SerfsTer24)
c.1225_1226dup (p.Tyr410SerfsTer24)
c.*609_*610dup (n.*609_*610dup)
c.720_721dup
n.1793_1794dup
c.*1007_*1008dup (n.*1007_*1008dup)
c.1417_1418dup (p.Tyr474SerfsTer24)
c.1312_1313dup (p.Tyr439SerfsTer24)
n.400_401dup
c.1309_1310dup (p.Tyr438SerfsTer24)
c.1231_1232dup (p.Tyr412SerfsTer24)
c.1327_1328dup (p.Tyr444SerfsTer24)
c.*275_*276dup (n.*275_*276dup)
n.1825_1826dup
c.964_965dup (p.Tyr323SerfsTer24)
c.1402_1403dup (p.Tyr469SerfsTer24)
c.1315_1316dup (p.Tyr440SerfsTer24)
c.1267_1268dup (p.Tyr424SerfsTer24)
c.979_980dup (p.Tyr328SerfsTer24)
c.1414_1415dup (p.Tyr473SerfsTer24)
c.1399_1400dup (p.Tyr468SerfsTer24)
8g.71216721_71216723delinsATCCA1792692732EYA1c.1329_1331delinsGAT (p.Glu443=)
c.1227_1229delinsGAT (p.Glu409=)
c.1224_1226delinsGAT (p.Glu408=)
c.*608_*610delinsGAT (n.*608_*610delinsGAT)
c.719_721delinsGAT
n.1792_1794delinsGAT
c.*1006_*1008delinsGAT (n.*1006_*1008delinsGAT)
c.1416_1418delinsGAT (p.Glu472=)
c.1311_1313delinsGAT (p.Glu437=)
n.399_401delinsGAT
c.1308_1310delinsGAT (p.Glu436=)
c.1230_1232delinsGAT (p.Glu410=)
c.1326_1328delinsGAT (p.Glu442=)
c.*274_*276delinsGAT (n.*274_*276delinsGAT)
n.1824_1826delinsGAT
c.963_965delinsGAT (p.Glu321=)
c.1401_1403delinsGAT (p.Glu467=)
c.1314_1316delinsGAT (p.Glu438=)
c.1266_1268delinsGAT (p.Glu422=)
c.978_980delinsGAT (p.Glu326=)
c.1413_1415delinsGAT (p.Glu471=)
c.1398_1400delinsGAT (p.Glu466=)
8g.71216722T>ACA4779500EYA1c.1330A>T (p.Ile444Phe)
c.1228A>T (p.Ile410Phe)
c.1225A>T (p.Ile409Phe)
c.*609A>T (n.*609A>T)
c.720A>T
n.1793A>T
c.*1007A>T (n.*1007A>T)
c.1417A>T (p.Ile473Phe)
c.1312A>T (p.Ile438Phe)
n.400A>T
c.1309A>T (p.Ile437Phe)
c.1231A>T (p.Ile411Phe)
c.1327A>T (p.Ile443Phe)
c.*275A>T (n.*275A>T)
n.1825A>T
c.964A>T (p.Ile322Phe)
c.1402A>T (p.Ile468Phe)
c.1315A>T (p.Ile439Phe)
c.1267A>T (p.Ile423Phe)
c.979A>T (p.Ile327Phe)
c.1414A>T (p.Ile472Phe)
c.1399A>T (p.Ile467Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.71216722T>CCA371466633EYA1c.1330A>G (p.Ile444Val)
c.1228A>G (p.Ile410Val)
c.1225A>G (p.Ile409Val)
c.*609A>G (n.*609A>G)
c.720A>G
n.1793A>G
c.*1007A>G (n.*1007A>G)
c.1417A>G (p.Ile473Val)
c.1312A>G (p.Ile438Val)
n.400A>G
c.1309A>G (p.Ile437Val)
c.1231A>G (p.Ile411Val)
c.1327A>G (p.Ile443Val)
c.*275A>G (n.*275A>G)
n.1825A>G
c.964A>G (p.Ile322Val)
c.1402A>G (p.Ile468Val)
c.1315A>G (p.Ile439Val)
c.1267A>G (p.Ile423Val)
c.979A>G (p.Ile327Val)
c.1414A>G (p.Ile472Val)
c.1399A>G (p.Ile467Val)
8g.71216722T>GCA371466634EYA1c.1330A>C (p.Ile444Leu)
c.1228A>C (p.Ile410Leu)
c.1225A>C (p.Ile409Leu)
c.*609A>C (n.*609A>C)
c.720A>C
n.1793A>C
c.*1007A>C (n.*1007A>C)
c.1417A>C (p.Ile473Leu)
c.1312A>C (p.Ile438Leu)
n.400A>C
c.1309A>C (p.Ile437Leu)
c.1231A>C (p.Ile411Leu)
c.1327A>C (p.Ile443Leu)
c.*275A>C (n.*275A>C)
n.1825A>C
c.964A>C (p.Ile322Leu)
c.1402A>C (p.Ile468Leu)
c.1315A>C (p.Ile439Leu)
c.1267A>C (p.Ile423Leu)
c.979A>C (p.Ile327Leu)
c.1414A>C (p.Ile472Leu)
c.1399A>C (p.Ile467Leu)
8g.71216722T=CA1792692738EYA1c.1330A= (p.Ile444=)
c.1228A= (p.Ile410=)
c.1225A= (p.Ile409=)
c.*609A= (n.*609A=)
c.720A=
n.1793A=
c.*1007A= (n.*1007A=)
c.1417A= (p.Ile473=)
c.1312A= (p.Ile438=)
n.400A=
c.1309A= (p.Ile437=)
c.1231A= (p.Ile411=)
c.1327A= (p.Ile443=)
c.*275A= (n.*275A=)
n.1825A=
c.964A= (p.Ile322=)
c.1402A= (p.Ile468=)
c.1315A= (p.Ile439=)
c.1267A= (p.Ile423=)
c.979A= (p.Ile327=)
c.1414A= (p.Ile472=)
c.1399A= (p.Ile467=)
8g.71216725_71216726delCA658797115EYA1c.1329_1330del (p.Glu443AspfsTer8)
c.1227_1228del (p.Glu409AspfsTer8)
c.1224_1225del (p.Glu408AspfsTer8)
c.*608_*609del (n.*608_*609del)
c.719_720del
n.1792_1793del
c.*1006_*1007del (n.*1006_*1007del)
c.1416_1417del (p.Glu472AspfsTer8)
c.1311_1312del (p.Glu437AspfsTer8)
n.399_400del
c.1308_1309del (p.Glu436AspfsTer8)
c.1230_1231del (p.Glu410AspfsTer8)
c.1326_1327del (p.Glu442AspfsTer8)
c.*274_*275del (n.*274_*275del)
n.1824_1825del
c.963_964del (p.Glu321AspfsTer8)
c.1401_1402del (p.Glu467AspfsTer8)
c.1314_1315del (p.Glu438AspfsTer8)
c.1266_1267del (p.Glu422AspfsTer8)
c.978_979del (p.Glu326AspfsTer8)
c.1413_1414del (p.Glu471AspfsTer8)
c.1398_1399del (p.Glu466AspfsTer8)
 ClinVar dbSNP
8g.71216723C>ACA371466635EYA1c.1329G>T (p.Glu443Asp)
c.1227G>T (p.Glu409Asp)
c.1224G>T (p.Glu408Asp)
c.*608G>T (n.*608G>T)
c.719G>T
n.1792G>T
c.*1006G>T (n.*1006G>T)
c.1416G>T (p.Glu472Asp)
c.1311G>T (p.Glu437Asp)
n.399G>T
c.1308G>T (p.Glu436Asp)
c.1230G>T (p.Glu410Asp)
c.1326G>T (p.Glu442Asp)
c.*274G>T (n.*274G>T)
n.1824G>T
c.963G>T (p.Glu321Asp)
c.1401G>T (p.Glu467Asp)
c.1314G>T (p.Glu438Asp)
c.1266G>T (p.Glu422Asp)
c.978G>T (p.Glu326Asp)
c.1413G>T (p.Glu471Asp)
c.1398G>T (p.Glu466Asp)
 dbSNP gnomAD v3 gnomAD v4
8g.71216723C=CA1792692740EYA1c.1329G= (p.Glu443=)
c.1227G= (p.Glu409=)
c.1224G= (p.Glu408=)
c.*608G= (n.*608G=)
c.719G=
n.1792G=
c.*1006G= (n.*1006G=)
c.1416G= (p.Glu472=)
c.1311G= (p.Glu437=)
n.399G=
c.1308G= (p.Glu436=)
c.1230G= (p.Glu410=)
c.1326G= (p.Glu442=)
c.*274G= (n.*274G=)
n.1824G=
c.963G= (p.Glu321=)
c.1401G= (p.Glu467=)
c.1314G= (p.Glu438=)
c.1266G= (p.Glu422=)
c.978G= (p.Glu326=)
c.1413G= (p.Glu471=)
c.1398G= (p.Glu466=)
8g.71216723C>GCA371466636EYA1c.1329G>C (p.Glu443Asp)
c.1227G>C (p.Glu409Asp)
c.1224G>C (p.Glu408Asp)
c.*608G>C (n.*608G>C)
c.719G>C
n.1792G>C
c.*1006G>C (n.*1006G>C)
c.1416G>C (p.Glu472Asp)
c.1311G>C (p.Glu437Asp)
n.399G>C
c.1308G>C (p.Glu436Asp)
c.1230G>C (p.Glu410Asp)
c.1326G>C (p.Glu442Asp)
c.*274G>C (n.*274G>C)
n.1824G>C
c.963G>C (p.Glu321Asp)
c.1401G>C (p.Glu467Asp)
c.1314G>C (p.Glu438Asp)
c.1266G>C (p.Glu422Asp)
c.978G>C (p.Glu326Asp)
c.1413G>C (p.Glu471Asp)
c.1398G>C (p.Glu466Asp)
8g.71216723C>TCA461433867EYA1c.1329G>A (p.Glu443=)
c.1227G>A (p.Glu409=)
c.1224G>A (p.Glu408=)
c.*608G>A (n.*608G>A)
c.719G>A
n.1792G>A
c.*1006G>A (n.*1006G>A)
c.1416G>A (p.Glu472=)
c.1311G>A (p.Glu437=)
n.399G>A
c.1308G>A (p.Glu436=)
c.1230G>A (p.Glu410=)
c.1326G>A (p.Glu442=)
c.*274G>A (n.*274G>A)
n.1824G>A
c.963G>A (p.Glu321=)
c.1401G>A (p.Glu467=)
c.1314G>A (p.Glu438=)
c.1266G>A (p.Glu422=)
c.978G>A (p.Glu326=)
c.1413G>A (p.Glu471=)
c.1398G>A (p.Glu466=)
8g.71216724T>ACA371466638EYA1c.1328A>T (p.Glu443Val)
c.1226A>T (p.Glu409Val)
c.1223A>T (p.Glu408Val)
c.*607A>T (n.*607A>T)
c.718A>T
n.1791A>T
c.*1005A>T (n.*1005A>T)
c.1415A>T (p.Glu472Val)
c.1310A>T (p.Glu437Val)
n.398A>T
c.1307A>T (p.Glu436Val)
c.1229A>T (p.Glu410Val)
c.1325A>T (p.Glu442Val)
c.*273A>T (n.*273A>T)
n.1823A>T
c.962A>T (p.Glu321Val)
c.1400A>T (p.Glu467Val)
c.1313A>T (p.Glu438Val)
c.1265A>T (p.Glu422Val)
c.977A>T (p.Glu326Val)
c.1412A>T (p.Glu471Val)
c.1397A>T (p.Glu466Val)
8g.71216724T>CCA371466639EYA1c.1328A>G (p.Glu443Gly)
c.1226A>G (p.Glu409Gly)
c.1223A>G (p.Glu408Gly)
c.*607A>G (n.*607A>G)
c.718A>G
n.1791A>G
c.*1005A>G (n.*1005A>G)
c.1415A>G (p.Glu472Gly)
c.1310A>G (p.Glu437Gly)
n.398A>G
c.1307A>G (p.Glu436Gly)
c.1229A>G (p.Glu410Gly)
c.1325A>G (p.Glu442Gly)
c.*273A>G (n.*273A>G)
n.1823A>G
c.962A>G (p.Glu321Gly)
c.1400A>G (p.Glu467Gly)
c.1313A>G (p.Glu438Gly)
c.1265A>G (p.Glu422Gly)
c.977A>G (p.Glu326Gly)
c.1412A>G (p.Glu471Gly)
c.1397A>G (p.Glu466Gly)
8g.71216724T>GCA371466637EYA1c.1328A>C (p.Glu443Ala)
c.1226A>C (p.Glu409Ala)
c.1223A>C (p.Glu408Ala)
c.*607A>C (n.*607A>C)
c.718A>C
n.1791A>C
c.*1005A>C (n.*1005A>C)
c.1415A>C (p.Glu472Ala)
c.1310A>C (p.Glu437Ala)
n.398A>C
c.1307A>C (p.Glu436Ala)
c.1229A>C (p.Glu410Ala)
c.1325A>C (p.Glu442Ala)
c.*273A>C (n.*273A>C)
n.1823A>C
c.962A>C (p.Glu321Ala)
c.1400A>C (p.Glu467Ala)
c.1313A>C (p.Glu438Ala)
c.1265A>C (p.Glu422Ala)
c.977A>C (p.Glu326Ala)
c.1412A>C (p.Glu471Ala)
c.1397A>C (p.Glu466Ala)
8g.71216725C>ACA371466640EYA1c.1327G>T (p.Glu443Ter)
c.1225G>T (p.Glu409Ter)
c.1222G>T (p.Glu408Ter)
c.*606G>T (n.*606G>T)
c.717G>T
n.1790G>T
c.*1004G>T (n.*1004G>T)
c.1414G>T (p.Glu472Ter)
c.1309G>T (p.Glu437Ter)
n.397G>T
c.1306G>T (p.Glu436Ter)
c.1228G>T (p.Glu410Ter)
c.1324G>T (p.Glu442Ter)
c.*272G>T (n.*272G>T)
n.1822G>T
c.961G>T (p.Glu321Ter)
c.1399G>T (p.Glu467Ter)
c.1312G>T (p.Glu438Ter)
c.1264G>T (p.Glu422Ter)
c.976G>T (p.Glu326Ter)
c.1411G>T (p.Glu471Ter)
c.1396G>T (p.Glu466Ter)
8g.71216725C>GCA371466641EYA1c.1327G>C (p.Glu443Gln)
c.1225G>C (p.Glu409Gln)
c.1222G>C (p.Glu408Gln)
c.*606G>C (n.*606G>C)
c.717G>C
n.1790G>C
c.*1004G>C (n.*1004G>C)
c.1414G>C (p.Glu472Gln)
c.1309G>C (p.Glu437Gln)
n.397G>C
c.1306G>C (p.Glu436Gln)
c.1228G>C (p.Glu410Gln)
c.1324G>C (p.Glu442Gln)
c.*272G>C (n.*272G>C)
n.1822G>C
c.961G>C (p.Glu321Gln)
c.1399G>C (p.Glu467Gln)
c.1312G>C (p.Glu438Gln)
c.1264G>C (p.Glu422Gln)
c.976G>C (p.Glu326Gln)
c.1411G>C (p.Glu471Gln)
c.1396G>C (p.Glu466Gln)
8g.71216725C>TCA371466642EYA1c.1327G>A (p.Glu443Lys)
c.1225G>A (p.Glu409Lys)
c.1222G>A (p.Glu408Lys)
c.*606G>A (n.*606G>A)
c.717G>A
n.1790G>A
c.*1004G>A (n.*1004G>A)
c.1414G>A (p.Glu472Lys)
c.1309G>A (p.Glu437Lys)
n.397G>A
c.1306G>A (p.Glu436Lys)
c.1228G>A (p.Glu410Lys)
c.1324G>A (p.Glu442Lys)
c.*272G>A (n.*272G>A)
n.1822G>A
c.961G>A (p.Glu321Lys)
c.1399G>A (p.Glu467Lys)
c.1312G>A (p.Glu438Lys)
c.1264G>A (p.Glu422Lys)
c.976G>A (p.Glu326Lys)
c.1411G>A (p.Glu471Lys)
c.1396G>A (p.Glu466Lys)
8g.71216725_71216726insGGTGGCA2548122678EYA1c.1326_1327insCCACC (p.Glu443ProfsTer27)
c.1224_1225insCCACC (p.Glu409ProfsTer27)
c.1221_1222insCCACC (p.Glu408ProfsTer27)
c.*605_*606insCCACC (n.*605_*606insCCACC)
c.716_717insCCACC
n.1789_1790insCCACC
c.*1003_*1004insCCACC (n.*1003_*1004insCCACC)
c.1413_1414insCCACC (p.Glu472ProfsTer27)
c.1308_1309insCCACC (p.Glu437ProfsTer27)
n.396_397insCCACC
c.1305_1306insCCACC (p.Glu436ProfsTer27)
c.1227_1228insCCACC (p.Glu410ProfsTer27)
c.1323_1324insCCACC (p.Glu442ProfsTer27)
c.*271_*272insCCACC (n.*271_*272insCCACC)
n.1821_1822insCCACC
c.960_961insCCACC (p.Glu321ProfsTer27)
c.1398_1399insCCACC (p.Glu467ProfsTer27)
c.1311_1312insCCACC (p.Glu438ProfsTer27)
c.1263_1264insCCACC (p.Glu422ProfsTer27)
c.975_976insCCACC (p.Glu326ProfsTer27)
c.1410_1411insCCACC (p.Glu471ProfsTer27)
c.1395_1396insCCACC (p.Glu466ProfsTer27)
8g.71216726T>ACA371466643EYA1c.1326A>T (p.Lys442Asn)
c.1224A>T (p.Lys408Asn)
c.1221A>T (p.Lys407Asn)
c.*605A>T (n.*605A>T)
c.716A>T
n.1789A>T
c.*1003A>T (n.*1003A>T)
c.1413A>T (p.Lys471Asn)
c.1308A>T (p.Lys436Asn)
n.396A>T
c.1305A>T (p.Lys435Asn)
c.1227A>T (p.Lys409Asn)
c.1323A>T (p.Lys441Asn)
c.*271A>T (n.*271A>T)
n.1821A>T
c.960A>T (p.Lys320Asn)
c.1398A>T (p.Lys466Asn)
c.1311A>T (p.Lys437Asn)
c.1263A>T (p.Lys421Asn)
c.975A>T (p.Lys325Asn)
c.1410A>T (p.Lys470Asn)
c.1395A>T (p.Lys465Asn)
8g.71216726T>CCA461433872EYA1c.1326A>G (p.Lys442=)
c.1224A>G (p.Lys408=)
c.1221A>G (p.Lys407=)
c.*605A>G (n.*605A>G)
c.716A>G
n.1789A>G
c.*1003A>G (n.*1003A>G)
c.1413A>G (p.Lys471=)
c.1308A>G (p.Lys436=)
n.396A>G
c.1305A>G (p.Lys435=)
c.1227A>G (p.Lys409=)
c.1323A>G (p.Lys441=)
c.*271A>G (n.*271A>G)
n.1821A>G
c.960A>G (p.Lys320=)
c.1398A>G (p.Lys466=)
c.1311A>G (p.Lys437=)
c.1263A>G (p.Lys421=)
c.975A>G (p.Lys325=)
c.1410A>G (p.Lys470=)
c.1395A>G (p.Lys465=)
8g.71216726T>GCA371466644EYA1c.1326A>C (p.Lys442Asn)
c.1224A>C (p.Lys408Asn)
c.1221A>C (p.Lys407Asn)
c.*605A>C (n.*605A>C)
c.716A>C
n.1789A>C
c.*1003A>C (n.*1003A>C)
c.1413A>C (p.Lys471Asn)
c.1308A>C (p.Lys436Asn)
n.396A>C
c.1305A>C (p.Lys435Asn)
c.1227A>C (p.Lys409Asn)
c.1323A>C (p.Lys441Asn)
c.*271A>C (n.*271A>C)
n.1821A>C
c.960A>C (p.Lys320Asn)
c.1398A>C (p.Lys466Asn)
c.1311A>C (p.Lys437Asn)
c.1263A>C (p.Lys421Asn)
c.975A>C (p.Lys325Asn)
c.1410A>C (p.Lys470Asn)
c.1395A>C (p.Lys465Asn)
8g.71216728_71216729delCA658820869EYA1c.1325_1326del (p.Lys442ArgfsTer9)
c.1223_1224del (p.Lys408ArgfsTer9)
c.1220_1221del (p.Lys407ArgfsTer9)
c.*604_*605del (n.*604_*605del)
c.715_716del
n.1788_1789del
c.*1002_*1003del (n.*1002_*1003del)
c.1412_1413del (p.Lys471ArgfsTer9)
c.1307_1308del (p.Lys436ArgfsTer9)
n.395_396del
c.1304_1305del (p.Lys435ArgfsTer9)
c.1226_1227del (p.Lys409ArgfsTer9)
c.1322_1323del (p.Lys441ArgfsTer9)
c.*270_*271del (n.*270_*271del)
n.1820_1821del
c.959_960del (p.Lys320ArgfsTer9)
c.1397_1398del (p.Lys466ArgfsTer9)
c.1310_1311del (p.Lys437ArgfsTer9)
c.1262_1263del (p.Lys421ArgfsTer9)
c.974_975del (p.Lys325ArgfsTer9)
c.1409_1410del (p.Lys470ArgfsTer9)
c.1394_1395del (p.Lys465ArgfsTer9)
 ClinVar dbSNP
8g.71216727T>ACA371466647EYA1c.1325A>T (p.Lys442Ile)
c.1223A>T (p.Lys408Ile)
c.1220A>T (p.Lys407Ile)
c.*604A>T (n.*604A>T)
c.715A>T
n.1788A>T
c.*1002A>T (n.*1002A>T)
c.1412A>T (p.Lys471Ile)
c.1307A>T (p.Lys436Ile)
n.395A>T
c.1304A>T (p.Lys435Ile)
c.1226A>T (p.Lys409Ile)
c.1322A>T (p.Lys441Ile)
c.*270A>T (n.*270A>T)
n.1820A>T
c.959A>T (p.Lys320Ile)
c.1397A>T (p.Lys466Ile)
c.1310A>T (p.Lys437Ile)
c.1262A>T (p.Lys421Ile)
c.974A>T (p.Lys325Ile)
c.1409A>T (p.Lys470Ile)
c.1394A>T (p.Lys465Ile)
8g.71216727T>CCA371466645EYA1c.1325A>G (p.Lys442Arg)
c.1223A>G (p.Lys408Arg)
c.1220A>G (p.Lys407Arg)
c.*604A>G (n.*604A>G)
c.715A>G
n.1788A>G
c.*1002A>G (n.*1002A>G)
c.1412A>G (p.Lys471Arg)
c.1307A>G (p.Lys436Arg)
n.395A>G
c.1304A>G (p.Lys435Arg)
c.1226A>G (p.Lys409Arg)
c.1322A>G (p.Lys441Arg)
c.*270A>G (n.*270A>G)
n.1820A>G
c.959A>G (p.Lys320Arg)
c.1397A>G (p.Lys466Arg)
c.1310A>G (p.Lys437Arg)
c.1262A>G (p.Lys421Arg)
c.974A>G (p.Lys325Arg)
c.1409A>G (p.Lys470Arg)
c.1394A>G (p.Lys465Arg)
 ClinVar dbSNP
8g.71216727T>GCA371466646EYA1c.1325A>C (p.Lys442Thr)
c.1223A>C (p.Lys408Thr)
c.1220A>C (p.Lys407Thr)
c.*604A>C (n.*604A>C)
c.715A>C
n.1788A>C
c.*1002A>C (n.*1002A>C)
c.1412A>C (p.Lys471Thr)
c.1307A>C (p.Lys436Thr)
n.395A>C
c.1304A>C (p.Lys435Thr)
c.1226A>C (p.Lys409Thr)
c.1322A>C (p.Lys441Thr)
c.*270A>C (n.*270A>C)
n.1820A>C
c.959A>C (p.Lys320Thr)
c.1397A>C (p.Lys466Thr)
c.1310A>C (p.Lys437Thr)
c.1262A>C (p.Lys421Thr)
c.974A>C (p.Lys325Thr)
c.1409A>C (p.Lys470Thr)
c.1394A>C (p.Lys465Thr)
8g.71216727_71216730delCA2531402012EYA1c.1322_1325del (p.Val441GlufsTer26)
c.1220_1223del (p.Val407GlufsTer26)
c.1217_1220del (p.Val406GlufsTer26)
c.*601_*604del (n.*601_*604del)
c.712_715del
n.1785_1788del
c.*999_*1002del (n.*999_*1002del)
c.1409_1412del (p.Val470GlufsTer26)
c.1304_1307del (p.Val435GlufsTer26)
n.392_395del
c.1301_1304del (p.Val434GlufsTer26)
c.1223_1226del (p.Val408GlufsTer26)
c.1319_1322del (p.Val440GlufsTer26)
c.*267_*270del (n.*267_*270del)
n.1817_1820del
c.956_959del (p.Val319GlufsTer26)
c.1394_1397del (p.Val465GlufsTer26)
c.1307_1310del (p.Val436GlufsTer26)
c.1259_1262del (p.Val420GlufsTer26)
c.971_974del (p.Val324GlufsTer26)
c.1406_1409del (p.Val469GlufsTer26)
c.1391_1394del (p.Val464GlufsTer26)
8g.71216728T>ACA371466648EYA1c.1324A>T (p.Lys442Ter)
c.1222A>T (p.Lys408Ter)
c.1219A>T (p.Lys407Ter)
c.*603A>T (n.*603A>T)
c.714A>T
n.1787A>T
c.*1001A>T (n.*1001A>T)
c.1411A>T (p.Lys471Ter)
c.1306A>T (p.Lys436Ter)
n.394A>T
c.1303A>T (p.Lys435Ter)
c.1225A>T (p.Lys409Ter)
c.1321A>T (p.Lys441Ter)
c.*269A>T (n.*269A>T)
n.1819A>T
c.958A>T (p.Lys320Ter)
c.1396A>T (p.Lys466Ter)
c.1309A>T (p.Lys437Ter)
c.1261A>T (p.Lys421Ter)
c.973A>T (p.Lys325Ter)
c.1408A>T (p.Lys470Ter)
c.1393A>T (p.Lys465Ter)
8g.71216728T>CCA371466649EYA1c.1324A>G (p.Lys442Glu)
c.1222A>G (p.Lys408Glu)
c.1219A>G (p.Lys407Glu)
c.*603A>G (n.*603A>G)
c.714A>G
n.1787A>G
c.*1001A>G (n.*1001A>G)
c.1411A>G (p.Lys471Glu)
c.1306A>G (p.Lys436Glu)
n.394A>G
c.1303A>G (p.Lys435Glu)
c.1225A>G (p.Lys409Glu)
c.1321A>G (p.Lys441Glu)
c.*269A>G (n.*269A>G)
n.1819A>G
c.958A>G (p.Lys320Glu)
c.1396A>G (p.Lys466Glu)
c.1309A>G (p.Lys437Glu)
c.1261A>G (p.Lys421Glu)
c.973A>G (p.Lys325Glu)
c.1408A>G (p.Lys470Glu)
c.1393A>G (p.Lys465Glu)
8g.71216728T>GCA371466650EYA1c.1324A>C (p.Lys442Gln)
c.1222A>C (p.Lys408Gln)
c.1219A>C (p.Lys407Gln)
c.*603A>C (n.*603A>C)
c.714A>C
n.1787A>C
c.*1001A>C (n.*1001A>C)
c.1411A>C (p.Lys471Gln)
c.1306A>C (p.Lys436Gln)
n.394A>C
c.1303A>C (p.Lys435Gln)
c.1225A>C (p.Lys409Gln)
c.1321A>C (p.Lys441Gln)
c.*269A>C (n.*269A>C)
n.1819A>C
c.958A>C (p.Lys320Gln)
c.1396A>C (p.Lys466Gln)
c.1309A>C (p.Lys437Gln)
c.1261A>C (p.Lys421Gln)
c.973A>C (p.Lys325Gln)
c.1408A>C (p.Lys470Gln)
c.1393A>C (p.Lys465Gln)
8g.71216729T>ACA461433880EYA1c.1323A>T (p.Val441=)
c.1221A>T (p.Val407=)
c.1218A>T (p.Val406=)
c.*602A>T (n.*602A>T)
c.713A>T
n.1786A>T
c.*1000A>T (n.*1000A>T)
c.1410A>T (p.Val470=)
c.1305A>T (p.Val435=)
n.393A>T
c.1302A>T (p.Val434=)
c.1224A>T (p.Val408=)
c.1320A>T (p.Val440=)
c.*268A>T (n.*268A>T)
n.1818A>T
c.957A>T (p.Val319=)
c.1395A>T (p.Val465=)
c.1308A>T (p.Val436=)
c.1260A>T (p.Val420=)
c.972A>T (p.Val324=)
c.1407A>T (p.Val469=)
c.1392A>T (p.Val464=)
8g.71216729T>CCA4779502EYA1c.1323A>G (p.Val441=)
c.1221A>G (p.Val407=)
c.1218A>G (p.Val406=)
c.*602A>G (n.*602A>G)
c.713A>G
n.1786A>G
c.*1000A>G (n.*1000A>G)
c.1410A>G (p.Val470=)
c.1305A>G (p.Val435=)
n.393A>G
c.1302A>G (p.Val434=)
c.1224A>G (p.Val408=)
c.1320A>G (p.Val440=)
c.*268A>G (n.*268A>G)
n.1818A>G
c.957A>G (p.Val319=)
c.1395A>G (p.Val465=)
c.1308A>G (p.Val436=)
c.1260A>G (p.Val420=)
c.972A>G (p.Val324=)
c.1407A>G (p.Val469=)
c.1392A>G (p.Val464=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
8g.71216729T>GCA4779501EYA1c.1323A>C (p.Val441=)
c.1221A>C (p.Val407=)
c.1218A>C (p.Val406=)
c.*602A>C (n.*602A>C)
c.713A>C
n.1786A>C
c.*1000A>C (n.*1000A>C)
c.1410A>C (p.Val470=)
c.1305A>C (p.Val435=)
n.393A>C
c.1302A>C (p.Val434=)
c.1224A>C (p.Val408=)
c.1320A>C (p.Val440=)
c.*268A>C (n.*268A>C)
n.1818A>C
c.957A>C (p.Val319=)
c.1395A>C (p.Val465=)
c.1308A>C (p.Val436=)
c.1260A>C (p.Val420=)
c.972A>C (p.Val324=)
c.1407A>C (p.Val469=)
c.1392A>C (p.Val464=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.71216729T=CA1792692743EYA1c.1323A= (p.Val441=)
c.1221A= (p.Val407=)
c.1218A= (p.Val406=)
c.*602A= (n.*602A=)
c.713A=
n.1786A=
c.*1000A= (n.*1000A=)
c.1410A= (p.Val470=)
c.1305A= (p.Val435=)
n.393A=
c.1302A= (p.Val434=)
c.1224A= (p.Val408=)
c.1320A= (p.Val440=)
c.*268A= (n.*268A=)
n.1818A=
c.957A= (p.Val319=)
c.1395A= (p.Val465=)
c.1308A= (p.Val436=)
c.1260A= (p.Val420=)
c.972A= (p.Val324=)
c.1407A= (p.Val469=)
c.1392A= (p.Val464=)
8g.71216730A>CCA371466651EYA1c.1322T>G (p.Val441Gly)
c.1220T>G (p.Val407Gly)
c.1217T>G (p.Val406Gly)
c.*601T>G (n.*601T>G)
c.712T>G
n.1785T>G
c.*999T>G (n.*999T>G)
c.1409T>G (p.Val470Gly)
c.1304T>G (p.Val435Gly)
n.392T>G
c.1301T>G (p.Val434Gly)
c.1223T>G (p.Val408Gly)
c.1319T>G (p.Val440Gly)
c.*267T>G (n.*267T>G)
n.1817T>G
c.956T>G (p.Val319Gly)
c.1394T>G (p.Val465Gly)
c.1307T>G (p.Val436Gly)
c.1259T>G (p.Val420Gly)
c.971T>G (p.Val324Gly)
c.1406T>G (p.Val469Gly)
c.1391T>G (p.Val464Gly)
8g.71216730A>GCA371466653EYA1c.1322T>C (p.Val441Ala)
c.1220T>C (p.Val407Ala)
c.1217T>C (p.Val406Ala)
c.*601T>C (n.*601T>C)
c.712T>C
n.1785T>C
c.*999T>C (n.*999T>C)
c.1409T>C (p.Val470Ala)
c.1304T>C (p.Val435Ala)
n.392T>C
c.1301T>C (p.Val434Ala)
c.1223T>C (p.Val408Ala)
c.1319T>C (p.Val440Ala)
c.*267T>C (n.*267T>C)
n.1817T>C
c.956T>C (p.Val319Ala)
c.1394T>C (p.Val465Ala)
c.1307T>C (p.Val436Ala)
c.1259T>C (p.Val420Ala)
c.971T>C (p.Val324Ala)
c.1406T>C (p.Val469Ala)
c.1391T>C (p.Val464Ala)
 gnomAD v4
8g.71216730A>TCA371466652EYA1c.1322T>A (p.Val441Glu)
c.1220T>A (p.Val407Glu)
c.1217T>A (p.Val406Glu)
c.*601T>A (n.*601T>A)
c.712T>A
n.1785T>A
c.*999T>A (n.*999T>A)
c.1409T>A (p.Val470Glu)
c.1304T>A (p.Val435Glu)
n.392T>A
c.1301T>A (p.Val434Glu)
c.1223T>A (p.Val408Glu)
c.1319T>A (p.Val440Glu)
c.*267T>A (n.*267T>A)
n.1817T>A
c.956T>A (p.Val319Glu)
c.1394T>A (p.Val465Glu)
c.1307T>A (p.Val436Glu)
c.1259T>A (p.Val420Glu)
c.971T>A (p.Val324Glu)
c.1406T>A (p.Val469Glu)
c.1391T>A (p.Val464Glu)
8g.71216731C>ACA371466654EYA1c.1321G>T (p.Val441Leu)
c.1219G>T (p.Val407Leu)
c.1216G>T (p.Val406Leu)
c.*600G>T (n.*600G>T)
c.711G>T
n.1784G>T
c.*998G>T (n.*998G>T)
c.1408G>T (p.Val470Leu)
c.1303G>T (p.Val435Leu)
n.391G>T
c.1300G>T (p.Val434Leu)
c.1222G>T (p.Val408Leu)
c.1318G>T (p.Val440Leu)
c.*266G>T (n.*266G>T)
n.1816G>T
c.955G>T (p.Val319Leu)
c.1393G>T (p.Val465Leu)
c.1306G>T (p.Val436Leu)
c.1258G>T (p.Val420Leu)
c.970G>T (p.Val324Leu)
c.1405G>T (p.Val469Leu)
c.1390G>T (p.Val464Leu)
 COSMIC COSMIC
8g.71216731C>GCA371466656EYA1c.1321G>C (p.Val441Leu)
c.1219G>C (p.Val407Leu)
c.1216G>C (p.Val406Leu)
c.*600G>C (n.*600G>C)
c.711G>C
n.1784G>C
c.*998G>C (n.*998G>C)
c.1408G>C (p.Val470Leu)
c.1303G>C (p.Val435Leu)
n.391G>C
c.1300G>C (p.Val434Leu)
c.1222G>C (p.Val408Leu)
c.1318G>C (p.Val440Leu)
c.*266G>C (n.*266G>C)
n.1816G>C
c.955G>C (p.Val319Leu)
c.1393G>C (p.Val465Leu)
c.1306G>C (p.Val436Leu)
c.1258G>C (p.Val420Leu)
c.970G>C (p.Val324Leu)
c.1405G>C (p.Val469Leu)
c.1390G>C (p.Val464Leu)
8g.71216731C>TCA371466655EYA1c.1321G>A (p.Val441Ile)
c.1219G>A (p.Val407Ile)
c.1216G>A (p.Val406Ile)
c.*600G>A (n.*600G>A)
c.711G>A
n.1784G>A
c.*998G>A (n.*998G>A)
c.1408G>A (p.Val470Ile)
c.1303G>A (p.Val435Ile)
n.391G>A
c.1300G>A (p.Val434Ile)
c.1222G>A (p.Val408Ile)
c.1318G>A (p.Val440Ile)
c.*266G>A (n.*266G>A)
n.1816G>A
c.955G>A (p.Val319Ile)
c.1393G>A (p.Val465Ile)
c.1306G>A (p.Val436Ile)
c.1258G>A (p.Val420Ile)
c.970G>A (p.Val324Ile)
c.1405G>A (p.Val469Ile)
c.1390G>A (p.Val464Ile)
 ClinVar gnomAD v4
8g.71216731_71216732insGCA2528896934EYA1c.1320_1321insC (p.Val441ArgfsTer11)
c.1218_1219insC (p.Val407ArgfsTer11)
c.1215_1216insC (p.Val406ArgfsTer11)
c.*599_*600insC (n.*599_*600insC)
c.710_711insC
n.1783_1784insC
c.*997_*998insC (n.*997_*998insC)
c.1407_1408insC (p.Val470ArgfsTer11)
c.1302_1303insC (p.Val435ArgfsTer11)
n.390_391insC
c.1299_1300insC (p.Val434ArgfsTer11)
c.1221_1222insC (p.Val408ArgfsTer11)
c.1317_1318insC (p.Val440ArgfsTer11)
c.*265_*266insC (n.*265_*266insC)
n.1815_1816insC
c.954_955insC (p.Val319ArgfsTer11)
c.1392_1393insC (p.Val465ArgfsTer11)
c.1305_1306insC (p.Val436ArgfsTer11)
c.1257_1258insC (p.Val420ArgfsTer11)
c.969_970insC (p.Val324ArgfsTer11)
c.1404_1405insC (p.Val469ArgfsTer11)
c.1389_1390insC (p.Val464ArgfsTer11)
8g.71216731_71216732insATGTCA2545183903EYA1c.1320_1321insACAT (p.Val441ThrfsTer12)
c.1218_1219insACAT (p.Val407ThrfsTer12)
c.1215_1216insACAT (p.Val406ThrfsTer12)
c.*599_*600insACAT (n.*599_*600insACAT)
c.710_711insACAT
n.1783_1784insACAT
c.*997_*998insACAT (n.*997_*998insACAT)
c.1407_1408insACAT (p.Val470ThrfsTer12)
c.1302_1303insACAT (p.Val435ThrfsTer12)
n.390_391insACAT
c.1299_1300insACAT (p.Val434ThrfsTer12)
c.1221_1222insACAT (p.Val408ThrfsTer12)
c.1317_1318insACAT (p.Val440ThrfsTer12)
c.*265_*266insACAT (n.*265_*266insACAT)
n.1815_1816insACAT
c.954_955insACAT (p.Val319ThrfsTer12)
c.1392_1393insACAT (p.Val465ThrfsTer12)
c.1305_1306insACAT (p.Val436ThrfsTer12)
c.1257_1258insACAT (p.Val420ThrfsTer12)
c.969_970insACAT (p.Val324ThrfsTer12)
c.1404_1405insACAT (p.Val469ThrfsTer12)
c.1389_1390insACAT (p.Val464ThrfsTer12)
8g.71216732C>ACA461433887EYA1c.1320G>T (p.Arg440=)
c.1218G>T (p.Arg406=)
c.1215G>T (p.Arg405=)
c.*599G>T (n.*599G>T)
c.710G>T
n.1783G>T
c.*997G>T (n.*997G>T)
c.1407G>T (p.Arg469=)
c.1302G>T (p.Arg434=)
n.390G>T
c.1299G>T (p.Arg433=)
c.1221G>T (p.Arg407=)
c.1317G>T (p.Arg439=)
c.*265G>T (n.*265G>T)
n.1815G>T
c.954G>T (p.Arg318=)
c.1392G>T (p.Arg464=)
c.1305G>T (p.Arg435=)
c.1257G>T (p.Arg419=)
c.969G>T (p.Arg323=)
c.1404G>T (p.Arg468=)
c.1389G>T (p.Arg463=)
8g.71216732C>GCA461433888EYA1c.1320G>C (p.Arg440=)
c.1218G>C (p.Arg406=)
c.1215G>C (p.Arg405=)
c.*599G>C (n.*599G>C)
c.710G>C
n.1783G>C
c.*997G>C (n.*997G>C)
c.1407G>C (p.Arg469=)
c.1302G>C (p.Arg434=)
n.390G>C
c.1299G>C (p.Arg433=)
c.1221G>C (p.Arg407=)
c.1317G>C (p.Arg439=)
c.*265G>C (n.*265G>C)
n.1815G>C
c.954G>C (p.Arg318=)
c.1392G>C (p.Arg464=)
c.1305G>C (p.Arg435=)
c.1257G>C (p.Arg419=)
c.969G>C (p.Arg323=)
c.1404G>C (p.Arg468=)
c.1389G>C (p.Arg463=)
8g.71216732C>TCA461433889EYA1c.1320G>A (p.Arg440=)
c.1218G>A (p.Arg406=)
c.1215G>A (p.Arg405=)
c.*599G>A (n.*599G>A)
c.710G>A
n.1783G>A
c.*997G>A (n.*997G>A)
c.1407G>A (p.Arg469=)
c.1302G>A (p.Arg434=)
n.390G>A
c.1299G>A (p.Arg433=)
c.1221G>A (p.Arg407=)
c.1317G>A (p.Arg439=)
c.*265G>A (n.*265G>A)
n.1815G>A
c.954G>A (p.Arg318=)
c.1392G>A (p.Arg464=)
c.1305G>A (p.Arg435=)
c.1257G>A (p.Arg419=)
c.969G>A (p.Arg323=)
c.1404G>A (p.Arg468=)
c.1389G>A (p.Arg463=)
 COSMIC COSMIC
8g.71216733C>ACA371466657EYA1c.1319G>T (p.Arg440Leu)
c.1217G>T (p.Arg406Leu)
c.1214G>T (p.Arg405Leu)
c.*598G>T (n.*598G>T)
c.709G>T
n.1782G>T
c.*996G>T (n.*996G>T)
c.1406G>T (p.Arg469Leu)
c.1301G>T (p.Arg434Leu)
n.389G>T
c.1298G>T (p.Arg433Leu)
c.1220G>T (p.Arg407Leu)
c.1316G>T (p.Arg439Leu)
c.*264G>T (n.*264G>T)
n.1814G>T
c.953G>T (p.Arg318Leu)
c.1391G>T (p.Arg464Leu)
c.1304G>T (p.Arg435Leu)
c.1256G>T (p.Arg419Leu)
c.968G>T (p.Arg323Leu)
c.1403G>T (p.Arg468Leu)
c.1388G>T (p.Arg463Leu)
 gnomAD v4
8g.71216733C=CA1792692751EYA1c.1319G= (p.Arg440=)
c.1217G= (p.Arg406=)
c.1214G= (p.Arg405=)
c.*598G= (n.*598G=)
c.709G=
n.1782G=
c.*996G= (n.*996G=)
c.1406G= (p.Arg469=)
c.1301G= (p.Arg434=)
n.389G=
c.1298G= (p.Arg433=)
c.1220G= (p.Arg407=)
c.1316G= (p.Arg439=)
c.*264G= (n.*264G=)
n.1814G=
c.953G= (p.Arg318=)
c.1391G= (p.Arg464=)
c.1304G= (p.Arg435=)
c.1256G= (p.Arg419=)
c.968G= (p.Arg323=)
c.1403G= (p.Arg468=)
c.1388G= (p.Arg463=)
8g.71216733C>GCA371466658EYA1c.1319G>C (p.Arg440Pro)
c.1217G>C (p.Arg406Pro)
c.1214G>C (p.Arg405Pro)
c.*598G>C (n.*598G>C)
c.709G>C
n.1782G>C
c.*996G>C (n.*996G>C)
c.1406G>C (p.Arg469Pro)
c.1301G>C (p.Arg434Pro)
n.389G>C
c.1298G>C (p.Arg433Pro)
c.1220G>C (p.Arg407Pro)
c.1316G>C (p.Arg439Pro)
c.*264G>C (n.*264G>C)
n.1814G>C
c.953G>C (p.Arg318Pro)
c.1391G>C (p.Arg464Pro)
c.1304G>C (p.Arg435Pro)
c.1256G>C (p.Arg419Pro)
c.968G>C (p.Arg323Pro)
c.1403G>C (p.Arg468Pro)
c.1388G>C (p.Arg463Pro)
 gnomAD v4
8g.71216733C>TCA254271EYA1c.1319G>A (p.Arg440Gln)
c.1217G>A (p.Arg406Gln)
c.1214G>A (p.Arg405Gln)
c.*598G>A (n.*598G>A)
c.709G>A
n.1782G>A
c.*996G>A (n.*996G>A)
c.1406G>A (p.Arg469Gln)
c.1301G>A (p.Arg434Gln)
n.389G>A
c.1298G>A (p.Arg433Gln)
c.1220G>A (p.Arg407Gln)
c.1316G>A (p.Arg439Gln)
c.*264G>A (n.*264G>A)
n.1814G>A
c.953G>A (p.Arg318Gln)
c.1391G>A (p.Arg464Gln)
c.1304G>A (p.Arg435Gln)
c.1256G>A (p.Arg419Gln)
c.968G>A (p.Arg323Gln)
c.1403G>A (p.Arg468Gln)
c.1388G>A (p.Arg463Gln)
 ClinVar dbSNP
8g.71216733_71216734insAAAATCCA2503107901EYA1c.1319_1320insATTTTG (p.Arg440_Val441insPheTrp)
c.1217_1218insATTTTG (p.Arg406_Val407insPheTrp)
c.1214_1215insATTTTG (p.Arg405_Val406insPheTrp)
c.*598_*599insATTTTG (n.*598_*599insATTTTG)
c.709_710insATTTTG
n.1782_1783insATTTTG
c.*996_*997insATTTTG (n.*996_*997insATTTTG)
c.1406_1407insATTTTG (p.Arg469_Val470insPheTrp)
c.1301_1302insATTTTG (p.Arg434_Val435insPheTrp)
n.389_390insATTTTG
c.1298_1299insATTTTG (p.Arg433_Val434insPheTrp)
c.1220_1221insATTTTG (p.Arg407_Val408insPheTrp)
c.1316_1317insATTTTG (p.Arg439_Val440insPheTrp)
c.*264_*265insATTTTG (n.*264_*265insATTTTG)
n.1814_1815insATTTTG
c.953_954insATTTTG (p.Arg318_Val319insPheTrp)
c.1391_1392insATTTTG (p.Arg464_Val465insPheTrp)
c.1304_1305insATTTTG (p.Arg435_Val436insPheTrp)
c.1256_1257insATTTTG (p.Arg419_Val420insPheTrp)
c.968_969insATTTTG (p.Arg323_Val324insPheTrp)
c.1403_1404insATTTTG (p.Arg468_Val469insPheTrp)
c.1388_1389insATTTTG (p.Arg463_Val464insPheTrp)
8g.71216734G>ACA4779503EYA1c.1318C>T (p.Arg440Trp)
c.1216C>T (p.Arg406Trp)
c.1213C>T (p.Arg405Trp)
c.*597C>T (n.*597C>T)
c.708C>T
n.1781C>T
c.*995C>T (n.*995C>T)
c.1405C>T (p.Arg469Trp)
c.1300C>T (p.Arg434Trp)
n.388C>T
c.1297C>T (p.Arg433Trp)
c.1219C>T (p.Arg407Trp)
c.1315C>T (p.Arg439Trp)
c.*263C>T (n.*263C>T)
n.1813C>T
c.952C>T (p.Arg318Trp)
c.1390C>T (p.Arg464Trp)
c.1303C>T (p.Arg435Trp)
c.1255C>T (p.Arg419Trp)
c.967C>T (p.Arg323Trp)
c.1402C>T (p.Arg468Trp)
c.1387C>T (p.Arg463Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.71216734G>CCA371466659EYA1c.1318C>G (p.Arg440Gly)
c.1216C>G (p.Arg406Gly)
c.1213C>G (p.Arg405Gly)
c.*597C>G (n.*597C>G)
c.708C>G
n.1781C>G
c.*995C>G (n.*995C>G)
c.1405C>G (p.Arg469Gly)
c.1300C>G (p.Arg434Gly)
n.388C>G
c.1297C>G (p.Arg433Gly)
c.1219C>G (p.Arg407Gly)
c.1315C>G (p.Arg439Gly)
c.*263C>G (n.*263C>G)
n.1813C>G
c.952C>G (p.Arg318Gly)
c.1390C>G (p.Arg464Gly)
c.1303C>G (p.Arg435Gly)
c.1255C>G (p.Arg419Gly)
c.967C>G (p.Arg323Gly)
c.1402C>G (p.Arg468Gly)
c.1387C>G (p.Arg463Gly)
8g.71216734G=CA1792692757EYA1c.1318C= (p.Arg440=)
c.1216C= (p.Arg406=)
c.1213C= (p.Arg405=)
c.*597C= (n.*597C=)
c.708C=
n.1781C=
c.*995C= (n.*995C=)
c.1405C= (p.Arg469=)
c.1300C= (p.Arg434=)
n.388C=
c.1297C= (p.Arg433=)
c.1219C= (p.Arg407=)
c.1315C= (p.Arg439=)
c.*263C= (n.*263C=)
n.1813C=
c.952C= (p.Arg318=)
c.1390C= (p.Arg464=)
c.1303C= (p.Arg435=)
c.1255C= (p.Arg419=)
c.967C= (p.Arg323=)
c.1402C= (p.Arg468=)
c.1387C= (p.Arg463=)
8g.71216734G>TCA461433895EYA1c.1318C>A (p.Arg440=)
c.1216C>A (p.Arg406=)
c.1213C>A (p.Arg405=)
c.*597C>A (n.*597C>A)
c.708C>A
n.1781C>A
c.*995C>A (n.*995C>A)
c.1405C>A (p.Arg469=)
c.1300C>A (p.Arg434=)
n.388C>A
c.1297C>A (p.Arg433=)
c.1219C>A (p.Arg407=)
c.1315C>A (p.Arg439=)
c.*263C>A (n.*263C>A)
n.1813C>A
c.952C>A (p.Arg318=)
c.1390C>A (p.Arg464=)
c.1303C>A (p.Arg435=)
c.1255C>A (p.Arg419=)
c.967C>A (p.Arg323=)
c.1402C>A (p.Arg468=)
c.1387C>A (p.Arg463=)
 COSMIC COSMIC
8g.71216736_71216739dupCA2695209873EYA1c.1315_1318dup (p.Arg440GlnfsTer13)
c.1213_1216dup (p.Arg406GlnfsTer13)
c.1210_1213dup (p.Arg405GlnfsTer13)
c.*594_*597dup (n.*594_*597dup)
c.705_708dup
n.1778_1781dup
c.*992_*995dup (n.*992_*995dup)
c.1402_1405dup (p.Arg469GlnfsTer13)
c.1297_1300dup (p.Arg434GlnfsTer13)
n.385_388dup
c.1294_1297dup (p.Arg433GlnfsTer13)
c.1216_1219dup (p.Arg407GlnfsTer13)
c.1312_1315dup (p.Arg439GlnfsTer13)
c.*260_*263dup (n.*260_*263dup)
n.1810_1813dup
c.949_952dup (p.Arg318GlnfsTer13)
c.1387_1390dup (p.Arg464GlnfsTer13)
c.1300_1303dup (p.Arg435GlnfsTer13)
c.1252_1255dup (p.Arg419GlnfsTer13)
c.964_967dup (p.Arg323GlnfsTer13)
c.1399_1402dup (p.Arg468GlnfsTer13)
c.1384_1387dup (p.Arg463GlnfsTer13)
8g.71216735T>ACA371466660EYA1c.1317A>T (p.Arg439Ser)
c.1215A>T (p.Arg405Ser)
c.1212A>T (p.Arg404Ser)
c.*596A>T (n.*596A>T)
c.707A>T
n.1780A>T
c.*994A>T (n.*994A>T)
c.1404A>T (p.Arg468Ser)
c.1299A>T (p.Arg433Ser)
n.387A>T
c.1296A>T (p.Arg432Ser)
c.1218A>T (p.Arg406Ser)
c.1314A>T (p.Arg438Ser)
c.*262A>T (n.*262A>T)
n.1812A>T
c.951A>T (p.Arg317Ser)
c.1389A>T (p.Arg463Ser)
c.1302A>T (p.Arg434Ser)
c.1254A>T (p.Arg418Ser)
c.966A>T (p.Arg322Ser)
c.1401A>T (p.Arg467Ser)
c.1386A>T (p.Arg462Ser)
 gnomAD v4
8g.71216735T>CCA461433897EYA1c.1317A>G (p.Arg439=)
c.1215A>G (p.Arg405=)
c.1212A>G (p.Arg404=)
c.*596A>G (n.*596A>G)
c.707A>G
n.1780A>G
c.*994A>G (n.*994A>G)
c.1404A>G (p.Arg468=)
c.1299A>G (p.Arg433=)
n.387A>G
c.1296A>G (p.Arg432=)
c.1218A>G (p.Arg406=)
c.1314A>G (p.Arg438=)
c.*262A>G (n.*262A>G)
n.1812A>G
c.951A>G (p.Arg317=)
c.1389A>G (p.Arg463=)
c.1302A>G (p.Arg434=)
c.1254A>G (p.Arg418=)
c.966A>G (p.Arg322=)
c.1401A>G (p.Arg467=)
c.1386A>G (p.Arg462=)
 gnomAD v4
8g.71216735T>GCA371466661EYA1c.1317A>C (p.Arg439Ser)
c.1215A>C (p.Arg405Ser)
c.1212A>C (p.Arg404Ser)
c.*596A>C (n.*596A>C)
c.707A>C
n.1780A>C
c.*994A>C (n.*994A>C)
c.1404A>C (p.Arg468Ser)
c.1299A>C (p.Arg433Ser)
n.387A>C
c.1296A>C (p.Arg432Ser)
c.1218A>C (p.Arg406Ser)
c.1314A>C (p.Arg438Ser)
c.*262A>C (n.*262A>C)
n.1812A>C
c.951A>C (p.Arg317Ser)
c.1389A>C (p.Arg463Ser)
c.1302A>C (p.Arg434Ser)
c.1254A>C (p.Arg418Ser)
c.966A>C (p.Arg322Ser)
c.1401A>C (p.Arg467Ser)
c.1386A>C (p.Arg462Ser)
8g.71216735_71216736insATCA2505260523EYA1c.1317_1318insTA (p.Arg440TyrfsTer3)
c.1215_1216insTA (p.Arg406TyrfsTer3)
c.1212_1213insTA (p.Arg405TyrfsTer3)
c.*596_*597insTA (n.*596_*597insTA)
c.707_708insTA
n.1780_1781insTA
c.*994_*995insTA (n.*994_*995insTA)
c.1404_1405insTA (p.Arg469TyrfsTer3)
c.1299_1300insTA (p.Arg434TyrfsTer3)
n.387_388insTA
c.1296_1297insTA (p.Arg433TyrfsTer3)
c.1218_1219insTA (p.Arg407TyrfsTer3)
c.1314_1315insTA (p.Arg439TyrfsTer3)
c.*262_*263insTA (n.*262_*263insTA)
n.1812_1813insTA
c.951_952insTA (p.Arg318TyrfsTer3)
c.1389_1390insTA (p.Arg464TyrfsTer3)
c.1302_1303insTA (p.Arg435TyrfsTer3)
c.1254_1255insTA (p.Arg419TyrfsTer3)
c.966_967insTA (p.Arg323TyrfsTer3)
c.1401_1402insTA (p.Arg468TyrfsTer3)
c.1386_1387insTA (p.Arg463TyrfsTer3)
8g.71216735_71216736insTGAAAAATGAATTTCTTGCGCTTCGCTCATTTTTCACGTGGATTGTAAATGTTTCAAGTGGATCTGAATACATATAAAGATAATCAAGAGGATACGTTTCCGGTATTTGTTCAACA2562781563EYA1c.1316_1317insTTGAACAAATACCGGAAACGTATCCTCTTGATTATCTTTATATGTATTCAGATCCACTTGAAACATTTACAATCCACGTGAAAAATGAGCGAAGCGCAAGAAATTCATTTTTCA (p.Arg439SerfsTer2)
c.1214_1215insTTGAACAAATACCGGAAACGTATCCTCTTGATTATCTTTATATGTATTCAGATCCACTTGAAACATTTACAATCCACGTGAAAAATGAGCGAAGCGCAAGAAATTCATTTTTCA (p.Arg405SerfsTer2)
c.1211_1212insTTGAACAAATACCGGAAACGTATCCTCTTGATTATCTTTATATGTATTCAGATCCACTTGAAACATTTACAATCCACGTGAAAAATGAGCGAAGCGCAAGAAATTCATTTTTCA (p.Arg404SerfsTer2)
c.*595_*596insTTGAACAAATACCGGAAACGTATCCTCTTGATTATCTTTATATGTATTCAGATCCACTTGAAACATTTACAATCCACGTGAAAAATGAGCGAAGCGCAAGAAATTCATTTTTCA (n.*595_*596insTTGAACAAATACCGGAAACGTATCCTCTTGATTATCTTTATATGTATTCAGATCCACTTGAAACATTTACAATCCACGTGAAAAATGAGCGAAGCGCAAGAAATTCATTTTTCA)
c.706_707insTTGAACAAATACCGGAAACGTATCCTCTTGATTATCTTTATATGTATTCAGATCCACTTGAAACATTTACAATCCACGTGAAAAATGAGCGAAGCGCAAGAAATTCATTTTTCA
n.1779_1780insTTGAACAAATACCGGAAACGTATCCTCTTGATTATCTTTATATGTATTCAGATCCACTTGAAACATTTACAATCCACGTGAAAAATGAGCGAAGCGCAAGAAATTCATTTTTCA
c.*993_*994insTTGAACAAATACCGGAAACGTATCCTCTTGATTATCTTTATATGTATTCAGATCCACTTGAAACATTTACAATCCACGTGAAAAATGAGCGAAGCGCAAGAAATTCATTTTTCA (n.*993_*994insTTGAACAAATACCGGAAACGTATCCTCTTGATTATCTTTATATGTATTCAGATCCACTTGAAACATTTACAATCCACGTGAAAAATGAGCGAAGCGCAAGAAATTCATTTTTCA)
c.1403_1404insTTGAACAAATACCGGAAACGTATCCTCTTGATTATCTTTATATGTATTCAGATCCACTTGAAACATTTACAATCCACGTGAAAAATGAGCGAAGCGCAAGAAATTCATTTTTCA (p.Arg468SerfsTer2)
c.1298_1299insTTGAACAAATACCGGAAACGTATCCTCTTGATTATCTTTATATGTATTCAGATCCACTTGAAACATTTACAATCCACGTGAAAAATGAGCGAAGCGCAAGAAATTCATTTTTCA (p.Arg433SerfsTer2)
n.386_387insTTGAACAAATACCGGAAACGTATCCTCTTGATTATCTTTATATGTATTCAGATCCACTTGAAACATTTACAATCCACGTGAAAAATGAGCGAAGCGCAAGAAATTCATTTTTCA
c.1295_1296insTTGAACAAATACCGGAAACGTATCCTCTTGATTATCTTTATATGTATTCAGATCCACTTGAAACATTTACAATCCACGTGAAAAATGAGCGAAGCGCAAGAAATTCATTTTTCA (p.Arg432SerfsTer2)
c.1217_1218insTTGAACAAATACCGGAAACGTATCCTCTTGATTATCTTTATATGTATTCAGATCCACTTGAAACATTTACAATCCACGTGAAAAATGAGCGAAGCGCAAGAAATTCATTTTTCA (p.Arg406SerfsTer2)
c.1313_1314insTTGAACAAATACCGGAAACGTATCCTCTTGATTATCTTTATATGTATTCAGATCCACTTGAAACATTTACAATCCACGTGAAAAATGAGCGAAGCGCAAGAAATTCATTTTTCA (p.Arg438SerfsTer2)
c.*261_*262insTTGAACAAATACCGGAAACGTATCCTCTTGATTATCTTTATATGTATTCAGATCCACTTGAAACATTTACAATCCACGTGAAAAATGAGCGAAGCGCAAGAAATTCATTTTTCA (n.*261_*262insTTGAACAAATACCGGAAACGTATCCTCTTGATTATCTTTATATGTATTCAGATCCACTTGAAACATTTACAATCCACGTGAAAAATGAGCGAAGCGCAAGAAATTCATTTTTCA)
n.1811_1812insTTGAACAAATACCGGAAACGTATCCTCTTGATTATCTTTATATGTATTCAGATCCACTTGAAACATTTACAATCCACGTGAAAAATGAGCGAAGCGCAAGAAATTCATTTTTCA
c.950_951insTTGAACAAATACCGGAAACGTATCCTCTTGATTATCTTTATATGTATTCAGATCCACTTGAAACATTTACAATCCACGTGAAAAATGAGCGAAGCGCAAGAAATTCATTTTTCA (p.Arg317SerfsTer2)
c.1388_1389insTTGAACAAATACCGGAAACGTATCCTCTTGATTATCTTTATATGTATTCAGATCCACTTGAAACATTTACAATCCACGTGAAAAATGAGCGAAGCGCAAGAAATTCATTTTTCA (p.Arg463SerfsTer2)
c.1301_1302insTTGAACAAATACCGGAAACGTATCCTCTTGATTATCTTTATATGTATTCAGATCCACTTGAAACATTTACAATCCACGTGAAAAATGAGCGAAGCGCAAGAAATTCATTTTTCA (p.Arg434SerfsTer2)
c.1253_1254insTTGAACAAATACCGGAAACGTATCCTCTTGATTATCTTTATATGTATTCAGATCCACTTGAAACATTTACAATCCACGTGAAAAATGAGCGAAGCGCAAGAAATTCATTTTTCA (p.Arg418SerfsTer2)
c.965_966insTTGAACAAATACCGGAAACGTATCCTCTTGATTATCTTTATATGTATTCAGATCCACTTGAAACATTTACAATCCACGTGAAAAATGAGCGAAGCGCAAGAAATTCATTTTTCA (p.Arg322SerfsTer2)
c.1400_1401insTTGAACAAATACCGGAAACGTATCCTCTTGATTATCTTTATATGTATTCAGATCCACTTGAAACATTTACAATCCACGTGAAAAATGAGCGAAGCGCAAGAAATTCATTTTTCA (p.Arg467SerfsTer2)
c.1385_1386insTTGAACAAATACCGGAAACGTATCCTCTTGATTATCTTTATATGTATTCAGATCCACTTGAAACATTTACAATCCACGTGAAAAATGAGCGAAGCGCAAGAAATTCATTTTTCA (p.Arg462SerfsTer2)
8g.71216736C>ACA371466662EYA1c.1316G>T (p.Arg439Ile)
c.1214G>T (p.Arg405Ile)
c.1211G>T (p.Arg404Ile)
c.*595G>T (n.*595G>T)
c.706G>T
n.1779G>T
c.*993G>T (n.*993G>T)
c.1403G>T (p.Arg468Ile)
c.1298G>T (p.Arg433Ile)
n.386G>T
c.1295G>T (p.Arg432Ile)
c.1217G>T (p.Arg406Ile)
c.1313G>T (p.Arg438Ile)
c.*261G>T (n.*261G>T)
n.1811G>T
c.950G>T (p.Arg317Ile)
c.1388G>T (p.Arg463Ile)
c.1301G>T (p.Arg434Ile)
c.1253G>T (p.Arg418Ile)
c.965G>T (p.Arg322Ile)
c.1400G>T (p.Arg467Ile)
c.1385G>T (p.Arg462Ile)
8g.71216736C>GCA371466663EYA1c.1316G>C (p.Arg439Thr)
c.1214G>C (p.Arg405Thr)
c.1211G>C (p.Arg404Thr)
c.*595G>C (n.*595G>C)
c.706G>C
n.1779G>C
c.*993G>C (n.*993G>C)
c.1403G>C (p.Arg468Thr)
c.1298G>C (p.Arg433Thr)
n.386G>C
c.1295G>C (p.Arg432Thr)
c.1217G>C (p.Arg406Thr)
c.1313G>C (p.Arg438Thr)
c.*261G>C (n.*261G>C)
n.1811G>C
c.950G>C (p.Arg317Thr)
c.1388G>C (p.Arg463Thr)
c.1301G>C (p.Arg434Thr)
c.1253G>C (p.Arg418Thr)
c.965G>C (p.Arg322Thr)
c.1400G>C (p.Arg467Thr)
c.1385G>C (p.Arg462Thr)
8g.71216736C>TCA371466664EYA1c.1316G>A (p.Arg439Lys)
c.1214G>A (p.Arg405Lys)
c.1211G>A (p.Arg404Lys)
c.*595G>A (n.*595G>A)
c.706G>A
n.1779G>A
c.*993G>A (n.*993G>A)
c.1403G>A (p.Arg468Lys)
c.1298G>A (p.Arg433Lys)
n.386G>A
c.1295G>A (p.Arg432Lys)
c.1217G>A (p.Arg406Lys)
c.1313G>A (p.Arg438Lys)
c.*261G>A (n.*261G>A)
n.1811G>A
c.950G>A (p.Arg317Lys)
c.1388G>A (p.Arg463Lys)
c.1301G>A (p.Arg434Lys)
c.1253G>A (p.Arg418Lys)
c.965G>A (p.Arg322Lys)
c.1400G>A (p.Arg467Lys)
c.1385G>A (p.Arg462Lys)
8g.71216737delCA2573143309EYA1c.1315del (p.Arg439AspfsTer3)
c.1213del (p.Arg405AspfsTer3)
c.1210del (p.Arg404AspfsTer3)
c.*594del (n.*594del)
c.705del
n.1778del
c.*992del (n.*992del)
c.1402del (p.Arg468AspfsTer3)
c.1297del (p.Arg433AspfsTer3)
n.385del
c.1294del (p.Arg432AspfsTer3)
c.1216del (p.Arg406AspfsTer3)
c.1312del (p.Arg438AspfsTer3)
c.*260del (n.*260del)
n.1810del
c.949del (p.Arg317AspfsTer3)
c.1387del (p.Arg463AspfsTer3)
c.1300del (p.Arg434AspfsTer3)
c.1252del (p.Arg418AspfsTer3)
c.964del (p.Arg322AspfsTer3)
c.1399del (p.Arg467AspfsTer3)
c.1384del (p.Arg462AspfsTer3)
 ClinVar dbSNP
8g.71216737T>ACA371466665EYA1c.1315A>T (p.Arg439Ter)
c.1213A>T (p.Arg405Ter)
c.1210A>T (p.Arg404Ter)
c.*594A>T (n.*594A>T)
c.705A>T
n.1778A>T
c.*992A>T (n.*992A>T)
c.1402A>T (p.Arg468Ter)
c.1297A>T (p.Arg433Ter)
n.385A>T
c.1294A>T (p.Arg432Ter)
c.1216A>T (p.Arg406Ter)
c.1312A>T (p.Arg438Ter)
c.*260A>T (n.*260A>T)
n.1810A>T
c.949A>T (p.Arg317Ter)
c.1387A>T (p.Arg463Ter)
c.1300A>T (p.Arg434Ter)
c.1252A>T (p.Arg418Ter)
c.964A>T (p.Arg322Ter)
c.1399A>T (p.Arg467Ter)
c.1384A>T (p.Arg462Ter)
 gnomAD v3 gnomAD v4
8g.71216737T>CCA371466666EYA1c.1315A>G (p.Arg439Gly)
c.1213A>G (p.Arg405Gly)
c.1210A>G (p.Arg404Gly)
c.*594A>G (n.*594A>G)
c.705A>G
n.1778A>G
c.*992A>G (n.*992A>G)
c.1402A>G (p.Arg468Gly)
c.1297A>G (p.Arg433Gly)
n.385A>G
c.1294A>G (p.Arg432Gly)
c.1216A>G (p.Arg406Gly)
c.1312A>G (p.Arg438Gly)
c.*260A>G (n.*260A>G)
n.1810A>G
c.949A>G (p.Arg317Gly)
c.1387A>G (p.Arg463Gly)
c.1300A>G (p.Arg434Gly)
c.1252A>G (p.Arg418Gly)
c.964A>G (p.Arg322Gly)
c.1399A>G (p.Arg467Gly)
c.1384A>G (p.Arg462Gly)
8g.71216737T>GCA461433905EYA1c.1315A>C (p.Arg439=)
c.1213A>C (p.Arg405=)
c.1210A>C (p.Arg404=)
c.*594A>C (n.*594A>C)
c.705A>C
n.1778A>C
c.*992A>C (n.*992A>C)
c.1402A>C (p.Arg468=)
c.1297A>C (p.Arg433=)
n.385A>C
c.1294A>C (p.Arg432=)
c.1216A>C (p.Arg406=)
c.1312A>C (p.Arg438=)
c.*260A>C (n.*260A>C)
n.1810A>C
c.949A>C (p.Arg317=)
c.1387A>C (p.Arg463=)
c.1300A>C (p.Arg434=)
c.1252A>C (p.Arg418=)
c.964A>C (p.Arg322=)
c.1399A>C (p.Arg467=)
c.1384A>C (p.Arg462=)
8g.71216738G>ACA461433906EYA1c.1314C>T (p.Tyr438=)
c.1212C>T (p.Tyr404=)
c.1209C>T (p.Tyr403=)
c.*593C>T (n.*593C>T)
c.704C>T
n.1777C>T
c.*991C>T (n.*991C>T)
c.1401C>T (p.Tyr467=)
c.1296C>T (p.Tyr432=)
n.384C>T
c.1293C>T (p.Tyr431=)
c.1215C>T (p.Tyr405=)
c.1311C>T (p.Tyr437=)
c.*259C>T (n.*259C>T)
n.1809C>T
c.948C>T (p.Tyr316=)
c.1386C>T (p.Tyr462=)
c.1299C>T (p.Tyr433=)
c.1251C>T (p.Tyr417=)
c.963C>T (p.Tyr321=)
c.1398C>T (p.Tyr466=)
c.1383C>T (p.Tyr461=)
 dbSNP gnomAD v4
8g.71216738G>CCA371466667EYA1c.1314C>G (p.Tyr438Ter)
c.1212C>G (p.Tyr404Ter)
c.1209C>G (p.Tyr403Ter)
c.*593C>G (n.*593C>G)
c.704C>G
n.1777C>G
c.*991C>G (n.*991C>G)
c.1401C>G (p.Tyr467Ter)
c.1296C>G (p.Tyr432Ter)
n.384C>G
c.1293C>G (p.Tyr431Ter)
c.1215C>G (p.Tyr405Ter)
c.1311C>G (p.Tyr437Ter)
c.*259C>G (n.*259C>G)
n.1809C>G
c.948C>G (p.Tyr316Ter)
c.1386C>G (p.Tyr462Ter)
c.1299C>G (p.Tyr433Ter)
c.1251C>G (p.Tyr417Ter)
c.963C>G (p.Tyr321Ter)
c.1398C>G (p.Tyr466Ter)
c.1383C>G (p.Tyr461Ter)
8g.71216738G=CA1792692763EYA1c.1314C= (p.Tyr438=)
c.1212C= (p.Tyr404=)
c.1209C= (p.Tyr403=)
c.*593C= (n.*593C=)
c.704C=
n.1777C=
c.*991C= (n.*991C=)
c.1401C= (p.Tyr467=)
c.1296C= (p.Tyr432=)
n.384C=
c.1293C= (p.Tyr431=)
c.1215C= (p.Tyr405=)
c.1311C= (p.Tyr437=)
c.*259C= (n.*259C=)
n.1809C=
c.948C= (p.Tyr316=)
c.1386C= (p.Tyr462=)
c.1299C= (p.Tyr433=)
c.1251C= (p.Tyr417=)
c.963C= (p.Tyr321=)
c.1398C= (p.Tyr466=)
c.1383C= (p.Tyr461=)
8g.71216738G>TCA371466668EYA1c.1314C>A (p.Tyr438Ter)
c.1212C>A (p.Tyr404Ter)
c.1209C>A (p.Tyr403Ter)
c.*593C>A (n.*593C>A)
c.704C>A
n.1777C>A
c.*991C>A (n.*991C>A)
c.1401C>A (p.Tyr467Ter)
c.1296C>A (p.Tyr432Ter)
n.384C>A
c.1293C>A (p.Tyr431Ter)
c.1215C>A (p.Tyr405Ter)
c.1311C>A (p.Tyr437Ter)
c.*259C>A (n.*259C>A)
n.1809C>A
c.948C>A (p.Tyr316Ter)
c.1386C>A (p.Tyr462Ter)
c.1299C>A (p.Tyr433Ter)
c.1251C>A (p.Tyr417Ter)
c.963C>A (p.Tyr321Ter)
c.1398C>A (p.Tyr466Ter)
c.1383C>A (p.Tyr461Ter)
 gnomAD v3 gnomAD v4
8g.71216739T>ACA371466669EYA1c.1313A>T (p.Tyr438Phe)
c.1211A>T (p.Tyr404Phe)
c.1208A>T (p.Tyr403Phe)
c.*592A>T (n.*592A>T)
c.703A>T
n.1776A>T
c.*990A>T (n.*990A>T)
c.1400A>T (p.Tyr467Phe)
c.1295A>T (p.Tyr432Phe)
n.383A>T
c.1292A>T (p.Tyr431Phe)
c.1214A>T (p.Tyr405Phe)
c.1310A>T (p.Tyr437Phe)
c.*258A>T (n.*258A>T)
n.1808A>T
c.947A>T (p.Tyr316Phe)
c.1385A>T (p.Tyr462Phe)
c.1298A>T (p.Tyr433Phe)
c.1250A>T (p.Tyr417Phe)
c.962A>T (p.Tyr321Phe)
c.1397A>T (p.Tyr466Phe)
c.1382A>T (p.Tyr461Phe)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.71216739T>CCA371466670EYA1c.1313A>G (p.Tyr438Cys)
c.1211A>G (p.Tyr404Cys)
c.1208A>G (p.Tyr403Cys)
c.*592A>G (n.*592A>G)
c.703A>G
n.1776A>G
c.*990A>G (n.*990A>G)
c.1400A>G (p.Tyr467Cys)
c.1295A>G (p.Tyr432Cys)
n.383A>G
c.1292A>G (p.Tyr431Cys)
c.1214A>G (p.Tyr405Cys)
c.1310A>G (p.Tyr437Cys)
c.*258A>G (n.*258A>G)
n.1808A>G
c.947A>G (p.Tyr316Cys)
c.1385A>G (p.Tyr462Cys)
c.1298A>G (p.Tyr433Cys)
c.1250A>G (p.Tyr417Cys)
c.962A>G (p.Tyr321Cys)
c.1397A>G (p.Tyr466Cys)
c.1382A>G (p.Tyr461Cys)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.71216739T>GCA371466671EYA1c.1313A>C (p.Tyr438Ser)
c.1211A>C (p.Tyr404Ser)
c.1208A>C (p.Tyr403Ser)
c.*592A>C (n.*592A>C)
c.703A>C
n.1776A>C
c.*990A>C (n.*990A>C)
c.1400A>C (p.Tyr467Ser)
c.1295A>C (p.Tyr432Ser)
n.383A>C
c.1292A>C (p.Tyr431Ser)
c.1214A>C (p.Tyr405Ser)
c.1310A>C (p.Tyr437Ser)
c.*258A>C (n.*258A>C)
n.1808A>C
c.947A>C (p.Tyr316Ser)
c.1385A>C (p.Tyr462Ser)
c.1298A>C (p.Tyr433Ser)
c.1250A>C (p.Tyr417Ser)
c.962A>C (p.Tyr321Ser)
c.1397A>C (p.Tyr466Ser)
c.1382A>C (p.Tyr461Ser)
8g.71216739T=CA1792692768EYA1c.1313A= (p.Tyr438=)
c.1211A= (p.Tyr404=)
c.1208A= (p.Tyr403=)
c.*592A= (n.*592A=)
c.703A=
n.1776A=
c.*990A= (n.*990A=)
c.1400A= (p.Tyr467=)
c.1295A= (p.Tyr432=)
n.383A=
c.1292A= (p.Tyr431=)
c.1214A= (p.Tyr405=)
c.1310A= (p.Tyr437=)
c.*258A= (n.*258A=)
n.1808A=
c.947A= (p.Tyr316=)
c.1385A= (p.Tyr462=)
c.1298A= (p.Tyr433=)
c.1250A= (p.Tyr417=)
c.962A= (p.Tyr321=)
c.1397A= (p.Tyr466=)
c.1382A= (p.Tyr461=)
8g.71216740A>CCA371466672EYA1c.1312T>G (p.Tyr438Asp)
c.1210T>G (p.Tyr404Asp)
c.1207T>G (p.Tyr403Asp)
c.*591T>G (n.*591T>G)
c.702T>G
n.1775T>G
c.*989T>G (n.*989T>G)
c.1399T>G (p.Tyr467Asp)
c.1294T>G (p.Tyr432Asp)
n.382T>G
c.1291T>G (p.Tyr431Asp)
c.1213T>G (p.Tyr405Asp)
c.1309T>G (p.Tyr437Asp)
c.*257T>G (n.*257T>G)
n.1807T>G
c.946T>G (p.Tyr316Asp)
c.1384T>G (p.Tyr462Asp)
c.1297T>G (p.Tyr433Asp)
c.1249T>G (p.Tyr417Asp)
c.961T>G (p.Tyr321Asp)
c.1396T>G (p.Tyr466Asp)
c.1381T>G (p.Tyr461Asp)
8g.71216740A>GCA371466674EYA1c.1312T>C (p.Tyr438His)
c.1210T>C (p.Tyr404His)
c.1207T>C (p.Tyr403His)
c.*591T>C (n.*591T>C)
c.702T>C
n.1775T>C
c.*989T>C (n.*989T>C)
c.1399T>C (p.Tyr467His)
c.1294T>C (p.Tyr432His)
n.382T>C
c.1291T>C (p.Tyr431His)
c.1213T>C (p.Tyr405His)
c.1309T>C (p.Tyr437His)
c.*257T>C (n.*257T>C)
n.1807T>C
c.946T>C (p.Tyr316His)
c.1384T>C (p.Tyr462His)
c.1297T>C (p.Tyr433His)
c.1249T>C (p.Tyr417His)
c.961T>C (p.Tyr321His)
c.1396T>C (p.Tyr466His)
c.1381T>C (p.Tyr461His)
 gnomAD v4
8g.71216740A>TCA371466673EYA1c.1312T>A (p.Tyr438Asn)
c.1210T>A (p.Tyr404Asn)
c.1207T>A (p.Tyr403Asn)
c.*591T>A (n.*591T>A)
c.702T>A
n.1775T>A
c.*989T>A (n.*989T>A)
c.1399T>A (p.Tyr467Asn)
c.1294T>A (p.Tyr432Asn)
n.382T>A
c.1291T>A (p.Tyr431Asn)
c.1213T>A (p.Tyr405Asn)
c.1309T>A (p.Tyr437Asn)
c.*257T>A (n.*257T>A)
n.1807T>A
c.946T>A (p.Tyr316Asn)
c.1384T>A (p.Tyr462Asn)
c.1297T>A (p.Tyr433Asn)
c.1249T>A (p.Tyr417Asn)
c.961T>A (p.Tyr321Asn)
c.1396T>A (p.Tyr466Asn)
c.1381T>A (p.Tyr461Asn)
8g.71216741G>ACA461433915EYA1c.1311C>T (p.Arg437=)
c.1209C>T (p.Arg403=)
c.1206C>T (p.Arg402=)
c.*590C>T (n.*590C>T)
c.701C>T
n.1774C>T
c.*988C>T (n.*988C>T)
c.1398C>T (p.Arg466=)
c.1293C>T (p.Arg431=)
n.381C>T
c.1290C>T (p.Arg430=)
c.1212C>T (p.Arg404=)
c.1308C>T (p.Arg436=)
c.*256C>T (n.*256C>T)
n.1806C>T
c.945C>T (p.Arg315=)
c.1383C>T (p.Arg461=)
c.1296C>T (p.Arg432=)
c.1248C>T (p.Arg416=)
c.960C>T (p.Arg320=)
c.1395C>T (p.Arg465=)
c.1380C>T (p.Arg460=)
 COSMIC COSMIC
8g.71216741G>CCA461433916EYA1c.1311C>G (p.Arg437=)
c.1209C>G (p.Arg403=)
c.1206C>G (p.Arg402=)
c.*590C>G (n.*590C>G)
c.701C>G
n.1774C>G
c.*988C>G (n.*988C>G)
c.1398C>G (p.Arg466=)
c.1293C>G (p.Arg431=)
n.381C>G
c.1290C>G (p.Arg430=)
c.1212C>G (p.Arg404=)
c.1308C>G (p.Arg436=)
c.*256C>G (n.*256C>G)
n.1806C>G
c.945C>G (p.Arg315=)
c.1383C>G (p.Arg461=)
c.1296C>G (p.Arg432=)
c.1248C>G (p.Arg416=)
c.960C>G (p.Arg320=)
c.1395C>G (p.Arg465=)
c.1380C>G (p.Arg460=)
8g.71216741G>TCA461433918EYA1c.1311C>A (p.Arg437=)
c.1209C>A (p.Arg403=)
c.1206C>A (p.Arg402=)
c.*590C>A (n.*590C>A)
c.701C>A
n.1774C>A
c.*988C>A (n.*988C>A)
c.1398C>A (p.Arg466=)
c.1293C>A (p.Arg431=)
n.381C>A
c.1290C>A (p.Arg430=)
c.1212C>A (p.Arg404=)
c.1308C>A (p.Arg436=)
c.*256C>A (n.*256C>A)
n.1806C>A
c.945C>A (p.Arg315=)
c.1383C>A (p.Arg461=)
c.1296C>A (p.Arg432=)
c.1248C>A (p.Arg416=)
c.960C>A (p.Arg320=)
c.1395C>A (p.Arg465=)
c.1380C>A (p.Arg460=)
8g.71216741_71216744delCA1115150676EYA1c.1308_1311del (p.Arg437ThrfsTer4)
c.1206_1209del (p.Arg403ThrfsTer4)
c.1203_1206del (p.Arg402ThrfsTer4)
c.*587_*590del (n.*587_*590del)
c.698_701del
n.1771_1774del
c.*985_*988del (n.*985_*988del)
c.1395_1398del (p.Arg466ThrfsTer4)
c.1290_1293del (p.Arg431ThrfsTer4)
n.378_381del
c.1287_1290del (p.Arg430ThrfsTer4)
c.1209_1212del (p.Arg404ThrfsTer4)
c.1305_1308del (p.Arg436ThrfsTer4)
c.*253_*256del (n.*253_*256del)
n.1803_1806del
c.942_945del (p.Arg315ThrfsTer4)
c.1380_1383del (p.Arg461ThrfsTer4)
c.1293_1296del (p.Arg432ThrfsTer4)
c.1245_1248del (p.Arg416ThrfsTer4)
c.957_960del (p.Arg320ThrfsTer4)
c.1392_1395del (p.Arg465ThrfsTer4)
c.1377_1380del (p.Arg460ThrfsTer4)
 gnomAD v3 gnomAD v4
8g.71216742C>ACA371466675EYA1c.1310G>T (p.Arg437Leu)
c.1208G>T (p.Arg403Leu)
c.1205G>T (p.Arg402Leu)
c.*589G>T (n.*589G>T)
c.700G>T
n.1773G>T
c.*987G>T (n.*987G>T)
c.1397G>T (p.Arg466Leu)
c.1292G>T (p.Arg431Leu)
n.380G>T
c.1289G>T (p.Arg430Leu)
c.1211G>T (p.Arg404Leu)
c.1307G>T (p.Arg436Leu)
c.*255G>T (n.*255G>T)
n.1805G>T
c.944G>T (p.Arg315Leu)
c.1382G>T (p.Arg461Leu)
c.1295G>T (p.Arg432Leu)
c.1247G>T (p.Arg416Leu)
c.959G>T (p.Arg320Leu)
c.1394G>T (p.Arg465Leu)
c.1379G>T (p.Arg460Leu)
8g.71216742C=CA1792692775EYA1c.1310G= (p.Arg437=)
c.1208G= (p.Arg403=)
c.1205G= (p.Arg402=)
c.*589G= (n.*589G=)
c.700G=
n.1773G=
c.*987G= (n.*987G=)
c.1397G= (p.Arg466=)
c.1292G= (p.Arg431=)
n.380G=
c.1289G= (p.Arg430=)
c.1211G= (p.Arg404=)
c.1307G= (p.Arg436=)
c.*255G= (n.*255G=)
n.1805G=
c.944G= (p.Arg315=)
c.1382G= (p.Arg461=)
c.1295G= (p.Arg432=)
c.1247G= (p.Arg416=)
c.959G= (p.Arg320=)
c.1394G= (p.Arg465=)
c.1379G= (p.Arg460=)
8g.71216742C>GCA371466676EYA1c.1310G>C (p.Arg437Pro)
c.1208G>C (p.Arg403Pro)
c.1205G>C (p.Arg402Pro)
c.*589G>C (n.*589G>C)
c.700G>C
n.1773G>C
c.*987G>C (n.*987G>C)
c.1397G>C (p.Arg466Pro)
c.1292G>C (p.Arg431Pro)
n.380G>C
c.1289G>C (p.Arg430Pro)
c.1211G>C (p.Arg404Pro)
c.1307G>C (p.Arg436Pro)
c.*255G>C (n.*255G>C)
n.1805G>C
c.944G>C (p.Arg315Pro)
c.1382G>C (p.Arg461Pro)
c.1295G>C (p.Arg432Pro)
c.1247G>C (p.Arg416Pro)
c.959G>C (p.Arg320Pro)
c.1394G>C (p.Arg465Pro)
c.1379G>C (p.Arg460Pro)
 COSMIC COSMIC
8g.71216742C>TCA4779504EYA1c.1310G>A (p.Arg437His)
c.1208G>A (p.Arg403His)
c.1205G>A (p.Arg402His)
c.*589G>A (n.*589G>A)
c.700G>A
n.1773G>A
c.*987G>A (n.*987G>A)
c.1397G>A (p.Arg466His)
c.1292G>A (p.Arg431His)
n.380G>A
c.1289G>A (p.Arg430His)
c.1211G>A (p.Arg404His)
c.1307G>A (p.Arg436His)
c.*255G>A (n.*255G>A)
n.1805G>A
c.944G>A (p.Arg315His)
c.1382G>A (p.Arg461His)
c.1295G>A (p.Arg432His)
c.1247G>A (p.Arg416His)
c.959G>A (p.Arg320His)
c.1394G>A (p.Arg465His)
c.1379G>A (p.Arg460His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
8g.71216742_71216743insAAGTTAAGACAGTCCAGATACAATTTCAAAAGTACTCA2539036864EYA1c.1309_1310insAGTACTTTTGAAATTGTATCTGGACTGTCTTAACTT (p.Arg437GlnfsTer4)
c.1207_1208insAGTACTTTTGAAATTGTATCTGGACTGTCTTAACTT (p.Arg403GlnfsTer4)
c.1204_1205insAGTACTTTTGAAATTGTATCTGGACTGTCTTAACTT (p.Arg402GlnfsTer4)
c.*588_*589insAGTACTTTTGAAATTGTATCTGGACTGTCTTAACTT (n.*588_*589insAGTACTTTTGAAATTGTATCTGGACTGTCTTAACTT)
c.699_700insAGTACTTTTGAAATTGTATCTGGACTGTCTTAACTT
n.1772_1773insAGTACTTTTGAAATTGTATCTGGACTGTCTTAACTT
c.*986_*987insAGTACTTTTGAAATTGTATCTGGACTGTCTTAACTT (n.*986_*987insAGTACTTTTGAAATTGTATCTGGACTGTCTTAACTT)
c.1396_1397insAGTACTTTTGAAATTGTATCTGGACTGTCTTAACTT (p.Arg466GlnfsTer4)
c.1291_1292insAGTACTTTTGAAATTGTATCTGGACTGTCTTAACTT (p.Arg431GlnfsTer4)
n.379_380insAGTACTTTTGAAATTGTATCTGGACTGTCTTAACTT
c.1288_1289insAGTACTTTTGAAATTGTATCTGGACTGTCTTAACTT (p.Arg430GlnfsTer4)
c.1210_1211insAGTACTTTTGAAATTGTATCTGGACTGTCTTAACTT (p.Arg404GlnfsTer4)
c.1306_1307insAGTACTTTTGAAATTGTATCTGGACTGTCTTAACTT (p.Arg436GlnfsTer4)
c.*254_*255insAGTACTTTTGAAATTGTATCTGGACTGTCTTAACTT (n.*254_*255insAGTACTTTTGAAATTGTATCTGGACTGTCTTAACTT)
n.1804_1805insAGTACTTTTGAAATTGTATCTGGACTGTCTTAACTT
c.943_944insAGTACTTTTGAAATTGTATCTGGACTGTCTTAACTT (p.Arg315GlnfsTer4)
c.1381_1382insAGTACTTTTGAAATTGTATCTGGACTGTCTTAACTT (p.Arg461GlnfsTer4)
c.1294_1295insAGTACTTTTGAAATTGTATCTGGACTGTCTTAACTT (p.Arg432GlnfsTer4)
c.1246_1247insAGTACTTTTGAAATTGTATCTGGACTGTCTTAACTT (p.Arg416GlnfsTer4)
c.958_959insAGTACTTTTGAAATTGTATCTGGACTGTCTTAACTT (p.Arg320GlnfsTer4)
c.1393_1394insAGTACTTTTGAAATTGTATCTGGACTGTCTTAACTT (p.Arg465GlnfsTer4)
c.1378_1379insAGTACTTTTGAAATTGTATCTGGACTGTCTTAACTT (p.Arg460GlnfsTer4)
8g.71216743G>ACA371466677EYA1c.1309C>T (p.Arg437Cys)
c.1207C>T (p.Arg403Cys)
c.1204C>T (p.Arg402Cys)
c.*588C>T (n.*588C>T)
c.699C>T
n.1772C>T
c.*986C>T (n.*986C>T)
c.1396C>T (p.Arg466Cys)
c.1291C>T (p.Arg431Cys)
n.379C>T
c.1288C>T (p.Arg430Cys)
c.1210C>T (p.Arg404Cys)
c.1306C>T (p.Arg436Cys)
c.*254C>T (n.*254C>T)
n.1804C>T
c.943C>T (p.Arg315Cys)
c.1381C>T (p.Arg461Cys)
c.1294C>T (p.Arg432Cys)
c.1246C>T (p.Arg416Cys)
c.958C>T (p.Arg320Cys)
c.1393C>T (p.Arg465Cys)
c.1378C>T (p.Arg460Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
8g.71216743G>CCA371466678EYA1c.1309C>G (p.Arg437Gly)
c.1207C>G (p.Arg403Gly)
c.1204C>G (p.Arg402Gly)
c.*588C>G (n.*588C>G)
c.699C>G
n.1772C>G
c.*986C>G (n.*986C>G)
c.1396C>G (p.Arg466Gly)
c.1291C>G (p.Arg431Gly)
n.379C>G
c.1288C>G (p.Arg430Gly)
c.1210C>G (p.Arg404Gly)
c.1306C>G (p.Arg436Gly)
c.*254C>G (n.*254C>G)
n.1804C>G
c.943C>G (p.Arg315Gly)
c.1381C>G (p.Arg461Gly)
c.1294C>G (p.Arg432Gly)
c.1246C>G (p.Arg416Gly)
c.958C>G (p.Arg320Gly)
c.1393C>G (p.Arg465Gly)
c.1378C>G (p.Arg460Gly)
 gnomAD v3 gnomAD v4
8g.71216743G=CA1792692778EYA1c.1309C= (p.Arg437=)
c.1207C= (p.Arg403=)
c.1204C= (p.Arg402=)
c.*588C= (n.*588C=)
c.699C=
n.1772C=
c.*986C= (n.*986C=)
c.1396C= (p.Arg466=)
c.1291C= (p.Arg431=)
n.379C=
c.1288C= (p.Arg430=)
c.1210C= (p.Arg404=)
c.1306C= (p.Arg436=)
c.*254C= (n.*254C=)
n.1804C=
c.943C= (p.Arg315=)
c.1381C= (p.Arg461=)
c.1294C= (p.Arg432=)
c.1246C= (p.Arg416=)
c.958C= (p.Arg320=)
c.1393C= (p.Arg465=)
c.1378C= (p.Arg460=)
8g.71216743G>TCA371466679EYA1c.1309C>A (p.Arg437Ser)
c.1207C>A (p.Arg403Ser)
c.1204C>A (p.Arg402Ser)
c.*588C>A (n.*588C>A)
c.699C>A
n.1772C>A
c.*986C>A (n.*986C>A)
c.1396C>A (p.Arg466Ser)
c.1291C>A (p.Arg431Ser)
n.379C>A
c.1288C>A (p.Arg430Ser)
c.1210C>A (p.Arg404Ser)
c.1306C>A (p.Arg436Ser)
c.*254C>A (n.*254C>A)
n.1804C>A
c.943C>A (p.Arg315Ser)
c.1381C>A (p.Arg461Ser)
c.1294C>A (p.Arg432Ser)
c.1246C>A (p.Arg416Ser)
c.958C>A (p.Arg320Ser)
c.1393C>A (p.Arg465Ser)
c.1378C>A (p.Arg460Ser)
 dbSNP gnomAD v2 gnomAD v4
8g.71216744G>ACA461433923EYA1c.1308C>T (p.Phe436=)
c.1206C>T (p.Phe402=)
c.1203C>T (p.Phe401=)
c.*587C>T (n.*587C>T)
c.698C>T
n.1771C>T
c.*985C>T (n.*985C>T)
c.1395C>T (p.Phe465=)
c.1290C>T (p.Phe430=)
n.378C>T
c.1287C>T (p.Phe429=)
c.1209C>T (p.Phe403=)
c.1305C>T (p.Phe435=)
c.*253C>T (n.*253C>T)
n.1803C>T
c.942C>T (p.Phe314=)
c.1380C>T (p.Phe460=)
c.1293C>T (p.Phe431=)
c.1245C>T (p.Phe415=)
c.957C>T (p.Phe319=)
c.1392C>T (p.Phe464=)
c.1377C>T (p.Phe459=)
 COSMIC COSMIC
8g.71216744G>CCA371466680EYA1c.1308C>G (p.Phe436Leu)
c.1206C>G (p.Phe402Leu)
c.1203C>G (p.Phe401Leu)
c.*587C>G (n.*587C>G)
c.698C>G
n.1771C>G
c.*985C>G (n.*985C>G)
c.1395C>G (p.Phe465Leu)
c.1290C>G (p.Phe430Leu)
n.378C>G
c.1287C>G (p.Phe429Leu)
c.1209C>G (p.Phe403Leu)
c.1305C>G (p.Phe435Leu)
c.*253C>G (n.*253C>G)
n.1803C>G
c.942C>G (p.Phe314Leu)
c.1380C>G (p.Phe460Leu)
c.1293C>G (p.Phe431Leu)
c.1245C>G (p.Phe415Leu)
c.957C>G (p.Phe319Leu)
c.1392C>G (p.Phe464Leu)
c.1377C>G (p.Phe459Leu)
8g.71216744G>TCA371466681EYA1c.1308C>A (p.Phe436Leu)
c.1206C>A (p.Phe402Leu)
c.1203C>A (p.Phe401Leu)
c.*587C>A (n.*587C>A)
c.698C>A
n.1771C>A
c.*985C>A (n.*985C>A)
c.1395C>A (p.Phe465Leu)
c.1290C>A (p.Phe430Leu)
n.378C>A
c.1287C>A (p.Phe429Leu)
c.1209C>A (p.Phe403Leu)
c.1305C>A (p.Phe435Leu)
c.*253C>A (n.*253C>A)
n.1803C>A
c.942C>A (p.Phe314Leu)
c.1380C>A (p.Phe460Leu)
c.1293C>A (p.Phe431Leu)
c.1245C>A (p.Phe415Leu)
c.957C>A (p.Phe319Leu)
c.1392C>A (p.Phe464Leu)
c.1377C>A (p.Phe459Leu)
8g.71216745A>CCA371466682EYA1c.1307T>G (p.Phe436Cys)
c.1205T>G (p.Phe402Cys)
c.1202T>G (p.Phe401Cys)
c.*586T>G (n.*586T>G)
c.697T>G
n.1770T>G
c.*984T>G (n.*984T>G)
c.1394T>G (p.Phe465Cys)
c.1289T>G (p.Phe430Cys)
n.377T>G
c.1286T>G (p.Phe429Cys)
c.1208T>G (p.Phe403Cys)
c.1304T>G (p.Phe435Cys)
c.*252T>G (n.*252T>G)
n.1802T>G
c.941T>G (p.Phe314Cys)
c.1379T>G (p.Phe460Cys)
c.1292T>G (p.Phe431Cys)
c.1244T>G (p.Phe415Cys)
c.956T>G (p.Phe319Cys)
c.1391T>G (p.Phe464Cys)
c.1376T>G (p.Phe459Cys)
8g.71216745A>GCA371466683EYA1c.1307T>C (p.Phe436Ser)
c.1205T>C (p.Phe402Ser)
c.1202T>C (p.Phe401Ser)
c.*586T>C (n.*586T>C)
c.697T>C
n.1770T>C
c.*984T>C (n.*984T>C)
c.1394T>C (p.Phe465Ser)
c.1289T>C (p.Phe430Ser)
n.377T>C
c.1286T>C (p.Phe429Ser)
c.1208T>C (p.Phe403Ser)
c.1304T>C (p.Phe435Ser)
c.*252T>C (n.*252T>C)
n.1802T>C
c.941T>C (p.Phe314Ser)
c.1379T>C (p.Phe460Ser)
c.1292T>C (p.Phe431Ser)
c.1244T>C (p.Phe415Ser)
c.956T>C (p.Phe319Ser)
c.1391T>C (p.Phe464Ser)
c.1376T>C (p.Phe459Ser)
 COSMIC COSMIC
8g.71216745A>TCA371466684EYA1c.1307T>A (p.Phe436Tyr)
c.1205T>A (p.Phe402Tyr)
c.1202T>A (p.Phe401Tyr)
c.*586T>A (n.*586T>A)
c.697T>A
n.1770T>A
c.*984T>A (n.*984T>A)
c.1394T>A (p.Phe465Tyr)
c.1289T>A (p.Phe430Tyr)
n.377T>A
c.1286T>A (p.Phe429Tyr)
c.1208T>A (p.Phe403Tyr)
c.1304T>A (p.Phe435Tyr)
c.*252T>A (n.*252T>A)
n.1802T>A
c.941T>A (p.Phe314Tyr)
c.1379T>A (p.Phe460Tyr)
c.1292T>A (p.Phe431Tyr)
c.1244T>A (p.Phe415Tyr)
c.956T>A (p.Phe319Tyr)
c.1391T>A (p.Phe464Tyr)
c.1376T>A (p.Phe459Tyr)
8g.71216746A>CCA371466685EYA1c.1306T>G (p.Phe436Val)
c.1204T>G (p.Phe402Val)
c.1201T>G (p.Phe401Val)
c.*585T>G (n.*585T>G)
c.696T>G
n.1769T>G
c.*983T>G (n.*983T>G)
c.1393T>G (p.Phe465Val)
c.1288T>G (p.Phe430Val)
n.376T>G
c.1285T>G (p.Phe429Val)
c.1207T>G (p.Phe403Val)
c.1303T>G (p.Phe435Val)
c.*251T>G (n.*251T>G)
n.1801T>G
c.940T>G (p.Phe314Val)
c.1378T>G (p.Phe460Val)
c.1291T>G (p.Phe431Val)
c.1243T>G (p.Phe415Val)
c.955T>G (p.Phe319Val)
c.1390T>G (p.Phe464Val)
c.1375T>G (p.Phe459Val)
8g.71216746A>GCA371466687EYA1c.1306T>C (p.Phe436Leu)
c.1204T>C (p.Phe402Leu)
c.1201T>C (p.Phe401Leu)
c.*585T>C (n.*585T>C)
c.696T>C
n.1769T>C
c.*983T>C (n.*983T>C)
c.1393T>C (p.Phe465Leu)
c.1288T>C (p.Phe430Leu)
n.376T>C
c.1285T>C (p.Phe429Leu)
c.1207T>C (p.Phe403Leu)
c.1303T>C (p.Phe435Leu)
c.*251T>C (n.*251T>C)
n.1801T>C
c.940T>C (p.Phe314Leu)
c.1378T>C (p.Phe460Leu)
c.1291T>C (p.Phe431Leu)
c.1243T>C (p.Phe415Leu)
c.955T>C (p.Phe319Leu)
c.1390T>C (p.Phe464Leu)
c.1375T>C (p.Phe459Leu)
8g.71216746A>TCA371466686EYA1c.1306T>A (p.Phe436Ile)
c.1204T>A (p.Phe402Ile)
c.1201T>A (p.Phe401Ile)
c.*585T>A (n.*585T>A)
c.696T>A
n.1769T>A
c.*983T>A (n.*983T>A)
c.1393T>A (p.Phe465Ile)
c.1288T>A (p.Phe430Ile)
n.376T>A
c.1285T>A (p.Phe429Ile)
c.1207T>A (p.Phe403Ile)
c.1303T>A (p.Phe435Ile)
c.*251T>A (n.*251T>A)
n.1801T>A
c.940T>A (p.Phe314Ile)
c.1378T>A (p.Phe460Ile)
c.1291T>A (p.Phe431Ile)
c.1243T>A (p.Phe415Ile)
c.955T>A (p.Phe319Ile)
c.1390T>A (p.Phe464Ile)
c.1375T>A (p.Phe459Ile)
8g.71216747G>ACA461433930EYA1c.1305C>T (p.Ala435=)
c.1203C>T (p.Ala401=)
c.1200C>T (p.Ala400=)
c.*584C>T (n.*584C>T)
c.695C>T
n.1768C>T
c.*982C>T (n.*982C>T)
c.1392C>T (p.Ala464=)
c.1287C>T (p.Ala429=)
n.375C>T
c.1284C>T (p.Ala428=)
c.1206C>T (p.Ala402=)
c.1302C>T (p.Ala434=)
c.*250C>T (n.*250C>T)
n.1800C>T
c.939C>T (p.Ala313=)
c.1377C>T (p.Ala459=)
c.1290C>T (p.Ala430=)
c.1242C>T (p.Ala414=)
c.954C>T (p.Ala318=)
c.1389C>T (p.Ala463=)
c.1374C>T (p.Ala458=)
 dbSNP gnomAD v3 gnomAD v4
8g.71216747G>CCA461433932EYA1c.1305C>G (p.Ala435=)
c.1203C>G (p.Ala401=)
c.1200C>G (p.Ala400=)
c.*584C>G (n.*584C>G)
c.695C>G
n.1768C>G
c.*982C>G (n.*982C>G)
c.1392C>G (p.Ala464=)
c.1287C>G (p.Ala429=)
n.375C>G
c.1284C>G (p.Ala428=)
c.1206C>G (p.Ala402=)
c.1302C>G (p.Ala434=)
c.*250C>G (n.*250C>G)
n.1800C>G
c.939C>G (p.Ala313=)
c.1377C>G (p.Ala459=)
c.1290C>G (p.Ala430=)
c.1242C>G (p.Ala414=)
c.954C>G (p.Ala318=)
c.1389C>G (p.Ala463=)
c.1374C>G (p.Ala458=)
8g.71216747G=CA1792692781EYA1c.1305C= (p.Ala435=)
c.1203C= (p.Ala401=)
c.1200C= (p.Ala400=)
c.*584C= (n.*584C=)
c.695C=
n.1768C=
c.*982C= (n.*982C=)
c.1392C= (p.Ala464=)
c.1287C= (p.Ala429=)
n.375C=
c.1284C= (p.Ala428=)
c.1206C= (p.Ala402=)
c.1302C= (p.Ala434=)
c.*250C= (n.*250C=)
n.1800C=
c.939C= (p.Ala313=)
c.1377C= (p.Ala459=)
c.1290C= (p.Ala430=)
c.1242C= (p.Ala414=)
c.954C= (p.Ala318=)
c.1389C= (p.Ala463=)
c.1374C= (p.Ala458=)
8g.71216747G>TCA461433933EYA1c.1305C>A (p.Ala435=)
c.1203C>A (p.Ala401=)
c.1200C>A (p.Ala400=)
c.*584C>A (n.*584C>A)
c.695C>A
n.1768C>A
c.*982C>A (n.*982C>A)
c.1392C>A (p.Ala464=)
c.1287C>A (p.Ala429=)
n.375C>A
c.1284C>A (p.Ala428=)
c.1206C>A (p.Ala402=)
c.1302C>A (p.Ala434=)
c.*250C>A (n.*250C>A)
n.1800C>A
c.939C>A (p.Ala313=)
c.1377C>A (p.Ala459=)
c.1290C>A (p.Ala430=)
c.1242C>A (p.Ala414=)
c.954C>A (p.Ala318=)
c.1389C>A (p.Ala463=)
c.1374C>A (p.Ala458=)
8g.71216748G>ACA371466688EYA1c.1304C>T (p.Ala435Val)
c.1202C>T (p.Ala401Val)
c.1199C>T (p.Ala400Val)
c.*583C>T (n.*583C>T)
c.694C>T
n.1767C>T
c.*981C>T (n.*981C>T)
c.1391C>T (p.Ala464Val)
c.1286C>T (p.Ala429Val)
n.374C>T
c.1283C>T (p.Ala428Val)
c.1205C>T (p.Ala402Val)
c.1301C>T (p.Ala434Val)
c.*249C>T (n.*249C>T)
n.1799C>T
c.938C>T (p.Ala313Val)
c.1376C>T (p.Ala459Val)
c.1289C>T (p.Ala430Val)
c.1241C>T (p.Ala414Val)
c.953C>T (p.Ala318Val)
c.1388C>T (p.Ala463Val)
c.1373C>T (p.Ala458Val)
 dbSNP gnomAD v3 gnomAD v4
8g.71216748G>CCA371466689EYA1c.1304C>G (p.Ala435Gly)
c.1202C>G (p.Ala401Gly)
c.1199C>G (p.Ala400Gly)
c.*583C>G (n.*583C>G)
c.694C>G
n.1767C>G
c.*981C>G (n.*981C>G)
c.1391C>G (p.Ala464Gly)
c.1286C>G (p.Ala429Gly)
n.374C>G
c.1283C>G (p.Ala428Gly)
c.1205C>G (p.Ala402Gly)
c.1301C>G (p.Ala434Gly)
c.*249C>G (n.*249C>G)
n.1799C>G
c.938C>G (p.Ala313Gly)
c.1376C>G (p.Ala459Gly)
c.1289C>G (p.Ala430Gly)
c.1241C>G (p.Ala414Gly)
c.953C>G (p.Ala318Gly)
c.1388C>G (p.Ala463Gly)
c.1373C>G (p.Ala458Gly)
8g.71216748G>TCA371466690EYA1c.1304C>A (p.Ala435Asp)
c.1202C>A (p.Ala401Asp)
c.1199C>A (p.Ala400Asp)
c.*583C>A (n.*583C>A)
c.694C>A
n.1767C>A
c.*981C>A (n.*981C>A)
c.1391C>A (p.Ala464Asp)
c.1286C>A (p.Ala429Asp)
n.374C>A
c.1283C>A (p.Ala428Asp)
c.1205C>A (p.Ala402Asp)
c.1301C>A (p.Ala434Asp)
c.*249C>A (n.*249C>A)
n.1799C>A
c.938C>A (p.Ala313Asp)
c.1376C>A (p.Ala459Asp)
c.1289C>A (p.Ala430Asp)
c.1241C>A (p.Ala414Asp)
c.953C>A (p.Ala318Asp)
c.1388C>A (p.Ala463Asp)
c.1373C>A (p.Ala458Asp)
8g.71216749C>ACA371466691EYA1c.1303G>T (p.Ala435Ser)
c.1201G>T (p.Ala401Ser)
c.1198G>T (p.Ala400Ser)
c.*582G>T (n.*582G>T)
c.693G>T
n.1766G>T
c.*980G>T (n.*980G>T)
c.1390G>T (p.Ala464Ser)
c.1285G>T (p.Ala429Ser)
n.373G>T
c.1282G>T (p.Ala428Ser)
c.1204G>T (p.Ala402Ser)
c.1300G>T (p.Ala434Ser)
c.*248G>T (n.*248G>T)
n.1798G>T
c.937G>T (p.Ala313Ser)
c.1375G>T (p.Ala459Ser)
c.1288G>T (p.Ala430Ser)
c.1240G>T (p.Ala414Ser)
c.952G>T (p.Ala318Ser)
c.1387G>T (p.Ala463Ser)
c.1372G>T (p.Ala458Ser)
 dbSNP gnomAD v3 gnomAD v4
8g.71216749C=CA1792692784EYA1c.1303G= (p.Ala435=)
c.1201G= (p.Ala401=)
c.1198G= (p.Ala400=)
c.*582G= (n.*582G=)
c.693G=
n.1766G=
c.*980G= (n.*980G=)
c.1390G= (p.Ala464=)
c.1285G= (p.Ala429=)
n.373G=
c.1282G= (p.Ala428=)
c.1204G= (p.Ala402=)
c.1300G= (p.Ala434=)
c.*248G= (n.*248G=)
n.1798G=
c.937G= (p.Ala313=)
c.1375G= (p.Ala459=)
c.1288G= (p.Ala430=)
c.1240G= (p.Ala414=)
c.952G= (p.Ala318=)
c.1387G= (p.Ala463=)
c.1372G= (p.Ala458=)
8g.71216749C>GCA371466692EYA1c.1303G>C (p.Ala435Pro)
c.1201G>C (p.Ala401Pro)
c.1198G>C (p.Ala400Pro)
c.*582G>C (n.*582G>C)
c.693G>C
n.1766G>C
c.*980G>C (n.*980G>C)
c.1390G>C (p.Ala464Pro)
c.1285G>C (p.Ala429Pro)
n.373G>C
c.1282G>C (p.Ala428Pro)
c.1204G>C (p.Ala402Pro)
c.1300G>C (p.Ala434Pro)
c.*248G>C (n.*248G>C)
n.1798G>C
c.937G>C (p.Ala313Pro)
c.1375G>C (p.Ala459Pro)
c.1288G>C (p.Ala430Pro)
c.1240G>C (p.Ala414Pro)
c.952G>C (p.Ala318Pro)
c.1387G>C (p.Ala463Pro)
c.1372G>C (p.Ala458Pro)
8g.71216749C>TCA179210053EYA1c.1303G>A (p.Ala435Thr)
c.1201G>A (p.Ala401Thr)
c.1198G>A (p.Ala400Thr)
c.*582G>A (n.*582G>A)
c.693G>A
n.1766G>A
c.*980G>A (n.*980G>A)
c.1390G>A (p.Ala464Thr)
c.1285G>A (p.Ala429Thr)
n.373G>A
c.1282G>A (p.Ala428Thr)
c.1204G>A (p.Ala402Thr)
c.1300G>A (p.Ala434Thr)
c.*248G>A (n.*248G>A)
n.1798G>A
c.937G>A (p.Ala313Thr)
c.1375G>A (p.Ala459Thr)
c.1288G>A (p.Ala430Thr)
c.1240G>A (p.Ala414Thr)
c.952G>A (p.Ala318Thr)
c.1387G>A (p.Ala463Thr)
c.1372G>A (p.Ala458Thr)
 dbSNP gnomAD v3 gnomAD v4
8g.71216750C>ACA371466693EYA1c.1302G>T (p.Leu434Phe)
c.1200G>T (p.Leu400Phe)
c.1197G>T (p.Leu399Phe)
c.*581G>T (n.*581G>T)
c.692G>T
n.1765G>T
c.*979G>T (n.*979G>T)
c.1389G>T (p.Leu463Phe)
c.1284G>T (p.Leu428Phe)
n.372G>T
c.1281G>T (p.Leu427Phe)
c.1203G>T (p.Leu401Phe)
c.1299G>T (p.Leu433Phe)
c.*247G>T (n.*247G>T)
n.1797G>T
c.936G>T (p.Leu312Phe)
c.1374G>T (p.Leu458Phe)
c.1287G>T (p.Leu429Phe)
c.1239G>T (p.Leu413Phe)
c.951G>T (p.Leu317Phe)
c.1386G>T (p.Leu462Phe)
c.1371G>T (p.Leu457Phe)
8g.71216750C>GCA371466694EYA1c.1302G>C (p.Leu434Phe)
c.1200G>C (p.Leu400Phe)
c.1197G>C (p.Leu399Phe)
c.*581G>C (n.*581G>C)
c.692G>C
n.1765G>C
c.*979G>C (n.*979G>C)
c.1389G>C (p.Leu463Phe)
c.1284G>C (p.Leu428Phe)
n.372G>C
c.1281G>C (p.Leu427Phe)
c.1203G>C (p.Leu401Phe)
c.1299G>C (p.Leu433Phe)
c.*247G>C (n.*247G>C)
n.1797G>C
c.936G>C (p.Leu312Phe)
c.1374G>C (p.Leu458Phe)
c.1287G>C (p.Leu429Phe)
c.1239G>C (p.Leu413Phe)
c.951G>C (p.Leu317Phe)
c.1386G>C (p.Leu462Phe)
c.1371G>C (p.Leu457Phe)
8g.71216750C>TCA461433940EYA1c.1302G>A (p.Leu434=)
c.1200G>A (p.Leu400=)
c.1197G>A (p.Leu399=)
c.*581G>A (n.*581G>A)
c.692G>A
n.1765G>A
c.*979G>A (n.*979G>A)
c.1389G>A (p.Leu463=)
c.1284G>A (p.Leu428=)
n.372G>A
c.1281G>A (p.Leu427=)
c.1203G>A (p.Leu401=)
c.1299G>A (p.Leu433=)
c.*247G>A (n.*247G>A)
n.1797G>A
c.936G>A (p.Leu312=)
c.1374G>A (p.Leu458=)
c.1287G>A (p.Leu429=)
c.1239G>A (p.Leu413=)
c.951G>A (p.Leu317=)
c.1386G>A (p.Leu462=)
c.1371G>A (p.Leu457=)
8g.71216751A>CCA371466695EYA1c.1301T>G (p.Leu434Trp)
c.1199T>G (p.Leu400Trp)
c.1196T>G (p.Leu399Trp)
c.*580T>G (n.*580T>G)
c.691T>G
n.1764T>G
c.*978T>G (n.*978T>G)
c.1388T>G (p.Leu463Trp)
c.1283T>G (p.Leu428Trp)
n.371T>G
c.1280T>G (p.Leu427Trp)
c.1202T>G (p.Leu401Trp)
c.1298T>G (p.Leu433Trp)
c.*246T>G (n.*246T>G)
n.1796T>G
c.935T>G (p.Leu312Trp)
c.1373T>G (p.Leu458Trp)
c.1286T>G (p.Leu429Trp)
c.1238T>G (p.Leu413Trp)
c.950T>G (p.Leu317Trp)
c.1385T>G (p.Leu462Trp)
c.1370T>G (p.Leu457Trp)
8g.71216751A>GCA371466696EYA1c.1301T>C (p.Leu434Ser)
c.1199T>C (p.Leu400Ser)
c.1196T>C (p.Leu399Ser)
c.*580T>C (n.*580T>C)
c.691T>C
n.1764T>C
c.*978T>C (n.*978T>C)
c.1388T>C (p.Leu463Ser)
c.1283T>C (p.Leu428Ser)
n.371T>C
c.1280T>C (p.Leu427Ser)
c.1202T>C (p.Leu401Ser)
c.1298T>C (p.Leu433Ser)
c.*246T>C (n.*246T>C)
n.1796T>C
c.935T>C (p.Leu312Ser)
c.1373T>C (p.Leu458Ser)
c.1286T>C (p.Leu429Ser)
c.1238T>C (p.Leu413Ser)
c.950T>C (p.Leu317Ser)
c.1385T>C (p.Leu462Ser)
c.1370T>C (p.Leu457Ser)
8g.71216751A>TCA371466697EYA1c.1301T>A (p.Leu434Ter)
c.1199T>A (p.Leu400Ter)
c.1196T>A (p.Leu399Ter)
c.*580T>A (n.*580T>A)
c.691T>A
n.1764T>A
c.*978T>A (n.*978T>A)
c.1388T>A (p.Leu463Ter)
c.1283T>A (p.Leu428Ter)
n.371T>A
c.1280T>A (p.Leu427Ter)
c.1202T>A (p.Leu401Ter)
c.1298T>A (p.Leu433Ter)
c.*246T>A (n.*246T>A)
n.1796T>A
c.935T>A (p.Leu312Ter)
c.1373T>A (p.Leu458Ter)
c.1286T>A (p.Leu429Ter)
c.1238T>A (p.Leu413Ter)
c.950T>A (p.Leu317Ter)
c.1385T>A (p.Leu462Ter)
c.1370T>A (p.Leu457Ter)
8g.71216752A>CCA371466698EYA1c.1300T>G (p.Leu434Val)
c.1198T>G (p.Leu400Val)
c.1195T>G (p.Leu399Val)
c.*579T>G (n.*579T>G)
c.690T>G
n.1763T>G
c.*977T>G (n.*977T>G)
c.1387T>G (p.Leu463Val)
c.1282T>G (p.Leu428Val)
n.370T>G
c.1279T>G (p.Leu427Val)
c.1201T>G (p.Leu401Val)
c.1297T>G (p.Leu433Val)
c.*245T>G (n.*245T>G)
n.1795T>G
c.934T>G (p.Leu312Val)
c.1372T>G (p.Leu458Val)
c.1285T>G (p.Leu429Val)
c.1237T>G (p.Leu413Val)
c.949T>G (p.Leu317Val)
c.1384T>G (p.Leu462Val)
c.1369T>G (p.Leu457Val)
8g.71216752A>GCA461433947EYA1c.1300T>C (p.Leu434=)
c.1198T>C (p.Leu400=)
c.1195T>C (p.Leu399=)
c.*579T>C (n.*579T>C)
c.690T>C
n.1763T>C
c.*977T>C (n.*977T>C)
c.1387T>C (p.Leu463=)
c.1282T>C (p.Leu428=)
n.370T>C
c.1279T>C (p.Leu427=)
c.1201T>C (p.Leu401=)
c.1297T>C (p.Leu433=)
c.*245T>C (n.*245T>C)
n.1795T>C
c.934T>C (p.Leu312=)
c.1372T>C (p.Leu458=)
c.1285T>C (p.Leu429=)
c.1237T>C (p.Leu413=)
c.949T>C (p.Leu317=)
c.1384T>C (p.Leu462=)
c.1369T>C (p.Leu457=)
 gnomAD v4 COSMIC COSMIC
8g.71216752A>TCA371466699EYA1c.1300T>A (p.Leu434Met)
c.1198T>A (p.Leu400Met)
c.1195T>A (p.Leu399Met)
c.*579T>A (n.*579T>A)
c.690T>A
n.1763T>A
c.*977T>A (n.*977T>A)
c.1387T>A (p.Leu463Met)
c.1282T>A (p.Leu428Met)
n.370T>A
c.1279T>A (p.Leu427Met)
c.1201T>A (p.Leu401Met)
c.1297T>A (p.Leu433Met)
c.*245T>A (n.*245T>A)
n.1795T>A
c.934T>A (p.Leu312Met)
c.1372T>A (p.Leu458Met)
c.1285T>A (p.Leu429Met)
c.1237T>A (p.Leu413Met)
c.949T>A (p.Leu317Met)
c.1384T>A (p.Leu462Met)
c.1369T>A (p.Leu457Met)
8g.71216753C>ACA371466700EYA1c.1299G>T (p.Lys433Asn)
c.1197G>T (p.Lys399Asn)
c.1194G>T (p.Lys398Asn)
c.*578G>T (n.*578G>T)
c.689G>T
n.1762G>T
c.*976G>T (n.*976G>T)
c.1386G>T (p.Lys462Asn)
c.1281G>T (p.Lys427Asn)
n.369G>T
c.1278G>T (p.Lys426Asn)
c.1200G>T (p.Lys400Asn)
c.1296G>T (p.Lys432Asn)
c.*244G>T (n.*244G>T)
n.1794G>T
c.933G>T (p.Lys311Asn)
c.1371G>T (p.Lys457Asn)
c.1284G>T (p.Lys428Asn)
c.1236G>T (p.Lys412Asn)
c.948G>T (p.Lys316Asn)
c.1383G>T (p.Lys461Asn)
c.1368G>T (p.Lys456Asn)
 gnomAD v4
8g.71216753C>GCA371466701EYA1c.1299G>C (p.Lys433Asn)
c.1197G>C (p.Lys399Asn)
c.1194G>C (p.Lys398Asn)
c.*578G>C (n.*578G>C)
c.689G>C
n.1762G>C
c.*976G>C (n.*976G>C)
c.1386G>C (p.Lys462Asn)
c.1281G>C (p.Lys427Asn)
n.369G>C
c.1278G>C (p.Lys426Asn)
c.1200G>C (p.Lys400Asn)
c.1296G>C (p.Lys432Asn)
c.*244G>C (n.*244G>C)
n.1794G>C
c.933G>C (p.Lys311Asn)
c.1371G>C (p.Lys457Asn)
c.1284G>C (p.Lys428Asn)
c.1236G>C (p.Lys412Asn)
c.948G>C (p.Lys316Asn)
c.1383G>C (p.Lys461Asn)
c.1368G>C (p.Lys456Asn)
8g.71216753C>TCA461433950EYA1c.1299G>A (p.Lys433=)
c.1197G>A (p.Lys399=)
c.1194G>A (p.Lys398=)
c.*578G>A (n.*578G>A)
c.689G>A
n.1762G>A
c.*976G>A (n.*976G>A)
c.1386G>A (p.Lys462=)
c.1281G>A (p.Lys427=)
n.369G>A
c.1278G>A (p.Lys426=)
c.1200G>A (p.Lys400=)
c.1296G>A (p.Lys432=)
c.*244G>A (n.*244G>A)
n.1794G>A
c.933G>A (p.Lys311=)
c.1371G>A (p.Lys457=)
c.1284G>A (p.Lys428=)
c.1236G>A (p.Lys412=)
c.948G>A (p.Lys316=)
c.1383G>A (p.Lys461=)
c.1368G>A (p.Lys456=)
8g.71216754T>ACA371466702EYA1c.1298A>T (p.Lys433Met)
c.1196A>T (p.Lys399Met)
c.1193A>T (p.Lys398Met)
c.*577A>T (n.*577A>T)
c.688A>T
n.1761A>T
c.*975A>T (n.*975A>T)
c.1385A>T (p.Lys462Met)
c.1280A>T (p.Lys427Met)
n.368A>T
c.1277A>T (p.Lys426Met)
c.1199A>T (p.Lys400Met)
c.1295A>T (p.Lys432Met)
c.*243A>T (n.*243A>T)
n.1793A>T
c.932A>T (p.Lys311Met)
c.1370A>T (p.Lys457Met)
c.1283A>T (p.Lys428Met)
c.1235A>T (p.Lys412Met)
c.947A>T (p.Lys316Met)
c.1382A>T (p.Lys461Met)
c.1367A>T (p.Lys456Met)
8g.71216754T>CCA4779505EYA1c.1298A>G (p.Lys433Arg)
c.1196A>G (p.Lys399Arg)
c.1193A>G (p.Lys398Arg)
c.*577A>G (n.*577A>G)
c.688A>G
n.1761A>G
c.*975A>G (n.*975A>G)
c.1385A>G (p.Lys462Arg)
c.1280A>G (p.Lys427Arg)
n.368A>G
c.1277A>G (p.Lys426Arg)
c.1199A>G (p.Lys400Arg)
c.1295A>G (p.Lys432Arg)
c.*243A>G (n.*243A>G)
n.1793A>G
c.932A>G (p.Lys311Arg)
c.1370A>G (p.Lys457Arg)
c.1283A>G (p.Lys428Arg)
c.1235A>G (p.Lys412Arg)
c.947A>G (p.Lys316Arg)
c.1382A>G (p.Lys461Arg)
c.1367A>G (p.Lys456Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.71216754T>GCA371466703EYA1c.1298A>C (p.Lys433Thr)
c.1196A>C (p.Lys399Thr)
c.1193A>C (p.Lys398Thr)
c.*577A>C (n.*577A>C)
c.688A>C
n.1761A>C
c.*975A>C (n.*975A>C)
c.1385A>C (p.Lys462Thr)
c.1280A>C (p.Lys427Thr)
n.368A>C
c.1277A>C (p.Lys426Thr)
c.1199A>C (p.Lys400Thr)
c.1295A>C (p.Lys432Thr)
c.*243A>C (n.*243A>C)
n.1793A>C
c.932A>C (p.Lys311Thr)
c.1370A>C (p.Lys457Thr)
c.1283A>C (p.Lys428Thr)
c.1235A>C (p.Lys412Thr)
c.947A>C (p.Lys316Thr)
c.1382A>C (p.Lys461Thr)
c.1367A>C (p.Lys456Thr)
8g.71216754T=CA1792692792EYA1c.1298A= (p.Lys433=)
c.1196A= (p.Lys399=)
c.1193A= (p.Lys398=)
c.*577A= (n.*577A=)
c.688A=
n.1761A=
c.*975A= (n.*975A=)
c.1385A= (p.Lys462=)
c.1280A= (p.Lys427=)
n.368A=
c.1277A= (p.Lys426=)
c.1199A= (p.Lys400=)
c.1295A= (p.Lys432=)
c.*243A= (n.*243A=)
n.1793A=
c.932A= (p.Lys311=)
c.1370A= (p.Lys457=)
c.1283A= (p.Lys428=)
c.1235A= (p.Lys412=)
c.947A= (p.Lys316=)
c.1382A= (p.Lys461=)
c.1367A= (p.Lys456=)
8g.71216755T>ACA371466704EYA1c.1297A>T (p.Lys433Ter)
c.1195A>T (p.Lys399Ter)
c.1192A>T (p.Lys398Ter)
c.*576A>T (n.*576A>T)
c.687A>T
n.1760A>T
c.*974A>T (n.*974A>T)
c.1384A>T (p.Lys462Ter)
c.1279A>T (p.Lys427Ter)
n.367A>T
c.1276A>T (p.Lys426Ter)
c.1198A>T (p.Lys400Ter)
c.1294A>T (p.Lys432Ter)
c.*242A>T (n.*242A>T)
n.1792A>T
c.931A>T (p.Lys311Ter)
c.1369A>T (p.Lys457Ter)
c.1282A>T (p.Lys428Ter)
c.1234A>T (p.Lys412Ter)
c.946A>T (p.Lys316Ter)
c.1381A>T (p.Lys461Ter)
c.1366A>T (p.Lys456Ter)
8g.71216755T>CCA371466705EYA1c.1297A>G (p.Lys433Glu)
c.1195A>G (p.Lys399Glu)
c.1192A>G (p.Lys398Glu)
c.*576A>G (n.*576A>G)
c.687A>G
n.1760A>G
c.*974A>G (n.*974A>G)
c.1384A>G (p.Lys462Glu)
c.1279A>G (p.Lys427Glu)
n.367A>G
c.1276A>G (p.Lys426Glu)
c.1198A>G (p.Lys400Glu)
c.1294A>G (p.Lys432Glu)
c.*242A>G (n.*242A>G)
n.1792A>G
c.931A>G (p.Lys311Glu)
c.1369A>G (p.Lys457Glu)
c.1282A>G (p.Lys428Glu)
c.1234A>G (p.Lys412Glu)
c.946A>G (p.Lys316Glu)
c.1381A>G (p.Lys461Glu)
c.1366A>G (p.Lys456Glu)
8g.71216755T>GCA371466706EYA1c.1297A>C (p.Lys433Gln)
c.1195A>C (p.Lys399Gln)
c.1192A>C (p.Lys398Gln)
c.*576A>C (n.*576A>C)
c.687A>C
n.1760A>C
c.*974A>C (n.*974A>C)
c.1384A>C (p.Lys462Gln)
c.1279A>C (p.Lys427Gln)
n.367A>C
c.1276A>C (p.Lys426Gln)
c.1198A>C (p.Lys400Gln)
c.1294A>C (p.Lys432Gln)
c.*242A>C (n.*242A>C)
n.1792A>C
c.931A>C (p.Lys311Gln)
c.1369A>C (p.Lys457Gln)
c.1282A>C (p.Lys428Gln)
c.1234A>C (p.Lys412Gln)
c.946A>C (p.Lys316Gln)
c.1381A>C (p.Lys461Gln)
c.1366A>C (p.Lys456Gln)
 gnomAD v4
8g.71216756T>ACA371466707EYA1c.1296A>T (p.Arg432Ser)
c.1194A>T (p.Arg398Ser)
c.1191A>T (p.Arg397Ser)
c.*575A>T (n.*575A>T)
c.686A>T
n.1759A>T
c.*973A>T (n.*973A>T)
c.1383A>T (p.Arg461Ser)
c.1278A>T (p.Arg426Ser)
n.366A>T
c.1275A>T (p.Arg425Ser)
c.1197A>T (p.Arg399Ser)
c.1293A>T (p.Arg431Ser)
c.*241A>T (n.*241A>T)
n.1791A>T
c.930A>T (p.Arg310Ser)
c.1368A>T (p.Arg456Ser)
c.1281A>T (p.Arg427Ser)
c.1233A>T (p.Arg411Ser)
c.945A>T (p.Arg315Ser)
c.1380A>T (p.Arg460Ser)
c.1365A>T (p.Arg455Ser)
8g.71216756T>CCA461433955EYA1c.1296A>G (p.Arg432=)
c.1194A>G (p.Arg398=)
c.1191A>G (p.Arg397=)
c.*575A>G (n.*575A>G)
c.686A>G
n.1759A>G
c.*973A>G (n.*973A>G)
c.1383A>G (p.Arg461=)
c.1278A>G (p.Arg426=)
n.366A>G
c.1275A>G (p.Arg425=)
c.1197A>G (p.Arg399=)
c.1293A>G (p.Arg431=)
c.*241A>G (n.*241A>G)
n.1791A>G
c.930A>G (p.Arg310=)
c.1368A>G (p.Arg456=)
c.1281A>G (p.Arg427=)
c.1233A>G (p.Arg411=)
c.945A>G (p.Arg315=)
c.1380A>G (p.Arg460=)
c.1365A>G (p.Arg455=)
8g.71216756T>GCA371466708EYA1c.1296A>C (p.Arg432Ser)
c.1194A>C (p.Arg398Ser)
c.1191A>C (p.Arg397Ser)
c.*575A>C (n.*575A>C)
c.686A>C
n.1759A>C
c.*973A>C (n.*973A>C)
c.1383A>C (p.Arg461Ser)
c.1278A>C (p.Arg426Ser)
n.366A>C
c.1275A>C (p.Arg425Ser)
c.1197A>C (p.Arg399Ser)
c.1293A>C (p.Arg431Ser)
c.*241A>C (n.*241A>C)
n.1791A>C
c.930A>C (p.Arg310Ser)
c.1368A>C (p.Arg456Ser)
c.1281A>C (p.Arg427Ser)
c.1233A>C (p.Arg411Ser)
c.945A>C (p.Arg315Ser)
c.1380A>C (p.Arg460Ser)
c.1365A>C (p.Arg455Ser)
8g.71216757C>ACA371466709EYA1c.1295G>T (p.Arg432Ile)
c.1193G>T (p.Arg398Ile)
c.1190G>T (p.Arg397Ile)
c.*574G>T (n.*574G>T)
c.685G>T
n.1758G>T
c.*972G>T (n.*972G>T)
c.1382G>T (p.Arg461Ile)
c.1277G>T (p.Arg426Ile)
n.365G>T
c.1274G>T (p.Arg425Ile)
c.1196G>T (p.Arg399Ile)
c.1292G>T (p.Arg431Ile)
c.*240G>T (n.*240G>T)
n.1790G>T
c.929G>T (p.Arg310Ile)
c.1367G>T (p.Arg456Ile)
c.1280G>T (p.Arg427Ile)
c.1232G>T (p.Arg411Ile)
c.944G>T (p.Arg315Ile)
c.1379G>T (p.Arg460Ile)
c.1364G>T (p.Arg455Ile)
8g.71216757C=CA1792692799EYA1c.1295G= (p.Arg432=)
c.1193G= (p.Arg398=)
c.1190G= (p.Arg397=)
c.*574G= (n.*574G=)
c.685G=
n.1758G=
c.*972G= (n.*972G=)
c.1382G= (p.Arg461=)
c.1277G= (p.Arg426=)
n.365G=
c.1274G= (p.Arg425=)
c.1196G= (p.Arg399=)
c.1292G= (p.Arg431=)
c.*240G= (n.*240G=)
n.1790G=
c.929G= (p.Arg310=)
c.1367G= (p.Arg456=)
c.1280G= (p.Arg427=)
c.1232G= (p.Arg411=)
c.944G= (p.Arg315=)
c.1379G= (p.Arg460=)
c.1364G= (p.Arg455=)
8g.71216757C>GCA371466710EYA1c.1295G>C (p.Arg432Thr)
c.1193G>C (p.Arg398Thr)
c.1190G>C (p.Arg397Thr)
c.*574G>C (n.*574G>C)
c.685G>C
n.1758G>C
c.*972G>C (n.*972G>C)
c.1382G>C (p.Arg461Thr)
c.1277G>C (p.Arg426Thr)
n.365G>C
c.1274G>C (p.Arg425Thr)
c.1196G>C (p.Arg399Thr)
c.1292G>C (p.Arg431Thr)
c.*240G>C (n.*240G>C)
n.1790G>C
c.929G>C (p.Arg310Thr)
c.1367G>C (p.Arg456Thr)
c.1280G>C (p.Arg427Thr)
c.1232G>C (p.Arg411Thr)
c.944G>C (p.Arg315Thr)
c.1379G>C (p.Arg460Thr)
c.1364G>C (p.Arg455Thr)
8g.71216757C>TCA176074EYA1c.1295G>A (p.Arg432Lys)
c.1193G>A (p.Arg398Lys)
c.1190G>A (p.Arg397Lys)
c.*574G>A (n.*574G>A)
c.685G>A
n.1758G>A
c.*972G>A (n.*972G>A)
c.1382G>A (p.Arg461Lys)
c.1277G>A (p.Arg426Lys)
n.365G>A
c.1274G>A (p.Arg425Lys)
c.1196G>A (p.Arg399Lys)
c.1292G>A (p.Arg431Lys)
c.*240G>A (n.*240G>A)
n.1790G>A
c.929G>A (p.Arg310Lys)
c.1367G>A (p.Arg456Lys)
c.1280G>A (p.Arg427Lys)
c.1232G>A (p.Arg411Lys)
c.944G>A (p.Arg315Lys)
c.1379G>A (p.Arg460Lys)
c.1364G>A (p.Arg455Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.71216758T>ACA371466712EYA1c.1294A>T (p.Arg432Ter)
c.1192A>T (p.Arg398Ter)
c.1189A>T (p.Arg397Ter)
c.*573A>T (n.*573A>T)
c.684A>T
n.1757A>T
c.*971A>T (n.*971A>T)
c.1381A>T (p.Arg461Ter)
c.1276A>T (p.Arg426Ter)
n.364A>T
c.1273A>T (p.Arg425Ter)
c.1195A>T (p.Arg399Ter)
c.1291A>T (p.Arg431Ter)
c.*239A>T (n.*239A>T)
n.1789A>T
c.928A>T (p.Arg310Ter)
c.1366A>T (p.Arg456Ter)
c.1279A>T (p.Arg427Ter)
c.1231A>T (p.Arg411Ter)
c.943A>T (p.Arg315Ter)
c.1378A>T (p.Arg460Ter)
c.1363A>T (p.Arg455Ter)
8g.71216758T>CCA371466711EYA1c.1294A>G (p.Arg432Gly)
c.1192A>G (p.Arg398Gly)
c.1189A>G (p.Arg397Gly)
c.*573A>G (n.*573A>G)
c.684A>G
n.1757A>G
c.*971A>G (n.*971A>G)
c.1381A>G (p.Arg461Gly)
c.1276A>G (p.Arg426Gly)
n.364A>G
c.1273A>G (p.Arg425Gly)
c.1195A>G (p.Arg399Gly)
c.1291A>G (p.Arg431Gly)
c.*239A>G (n.*239A>G)
n.1789A>G
c.928A>G (p.Arg310Gly)
c.1366A>G (p.Arg456Gly)
c.1279A>G (p.Arg427Gly)
c.1231A>G (p.Arg411Gly)
c.943A>G (p.Arg315Gly)
c.1378A>G (p.Arg460Gly)
c.1363A>G (p.Arg455Gly)
 dbSNP gnomAD v3 gnomAD v4
8g.71216758T>GCA461433960EYA1c.1294A>C (p.Arg432=)
c.1192A>C (p.Arg398=)
c.1189A>C (p.Arg397=)
c.*573A>C (n.*573A>C)
c.684A>C
n.1757A>C
c.*971A>C (n.*971A>C)
c.1381A>C (p.Arg461=)
c.1276A>C (p.Arg426=)
n.364A>C
c.1273A>C (p.Arg425=)
c.1195A>C (p.Arg399=)
c.1291A>C (p.Arg431=)
c.*239A>C (n.*239A>C)
n.1789A>C
c.928A>C (p.Arg310=)
c.1366A>C (p.Arg456=)
c.1279A>C (p.Arg427=)
c.1231A>C (p.Arg411=)
c.943A>C (p.Arg315=)
c.1378A>C (p.Arg460=)
c.1363A>C (p.Arg455=)
8g.71216758T=CA1792692807EYA1c.1294A= (p.Arg432=)
c.1192A= (p.Arg398=)
c.1189A= (p.Arg397=)
c.*573A= (n.*573A=)
c.684A=
n.1757A=
c.*971A= (n.*971A=)
c.1381A= (p.Arg461=)
c.1276A= (p.Arg426=)
n.364A=
c.1273A= (p.Arg425=)
c.1195A= (p.Arg399=)
c.1291A= (p.Arg431=)
c.*239A= (n.*239A=)
n.1789A=
c.928A= (p.Arg310=)
c.1366A= (p.Arg456=)
c.1279A= (p.Arg427=)
c.1231A= (p.Arg411=)
c.943A= (p.Arg315=)
c.1378A= (p.Arg460=)
c.1363A= (p.Arg455=)
8g.71216759C>ACA371466713EYA1c.1293G>T (p.Met431Ile)
c.1191G>T (p.Met397Ile)
c.1188G>T (p.Met396Ile)
c.*572G>T (n.*572G>T)
c.683G>T
n.1756G>T
c.*970G>T (n.*970G>T)
c.1380G>T (p.Met460Ile)
c.1275G>T (p.Met425Ile)
n.363G>T
c.1272G>T (p.Met424Ile)
c.1194G>T (p.Met398Ile)
c.1290G>T (p.Met430Ile)
c.*238G>T (n.*238G>T)
n.1788G>T
c.927G>T (p.Met309Ile)
c.1365G>T (p.Met455Ile)
c.1278G>T (p.Met426Ile)
c.1230G>T (p.Met410Ile)
c.942G>T (p.Met314Ile)
c.1377G>T (p.Met459Ile)
c.1362G>T (p.Met454Ile)
8g.71216759C>GCA371466715EYA1c.1293G>C (p.Met431Ile)
c.1191G>C (p.Met397Ile)
c.1188G>C (p.Met396Ile)
c.*572G>C (n.*572G>C)
c.683G>C
n.1756G>C
c.*970G>C (n.*970G>C)
c.1380G>C (p.Met460Ile)
c.1275G>C (p.Met425Ile)
n.363G>C
c.1272G>C (p.Met424Ile)
c.1194G>C (p.Met398Ile)
c.1290G>C (p.Met430Ile)
c.*238G>C (n.*238G>C)
n.1788G>C
c.927G>C (p.Met309Ile)
c.1365G>C (p.Met455Ile)
c.1278G>C (p.Met426Ile)
c.1230G>C (p.Met410Ile)
c.942G>C (p.Met314Ile)
c.1377G>C (p.Met459Ile)
c.1362G>C (p.Met454Ile)
8g.71216759C>TCA371466714EYA1c.1293G>A (p.Met431Ile)
c.1191G>A (p.Met397Ile)
c.1188G>A (p.Met396Ile)
c.*572G>A (n.*572G>A)
c.683G>A
n.1756G>A
c.*970G>A (n.*970G>A)
c.1380G>A (p.Met460Ile)
c.1275G>A (p.Met425Ile)
n.363G>A
c.1272G>A (p.Met424Ile)
c.1194G>A (p.Met398Ile)
c.1290G>A (p.Met430Ile)
c.*238G>A (n.*238G>A)
n.1788G>A
c.927G>A (p.Met309Ile)
c.1365G>A (p.Met455Ile)
c.1278G>A (p.Met426Ile)
c.1230G>A (p.Met410Ile)
c.942G>A (p.Met314Ile)
c.1377G>A (p.Met459Ile)
c.1362G>A (p.Met454Ile)
 COSMIC COSMIC
8g.71216760A=CA1792692813EYA1c.1292T= (p.Met431=)
c.1190T= (p.Met397=)
c.1187T= (p.Met396=)
c.*571T= (n.*571T=)
c.682T=
n.1755T=
c.*969T= (n.*969T=)
c.1379T= (p.Met460=)
c.1274T= (p.Met425=)
n.362T=
c.1271T= (p.Met424=)
c.1193T= (p.Met398=)
c.1289T= (p.Met430=)
c.*237T= (n.*237T=)
n.1787T=
c.926T= (p.Met309=)
c.1364T= (p.Met455=)
c.1277T= (p.Met426=)
c.1229T= (p.Met410=)
c.941T= (p.Met314=)
c.1376T= (p.Met459=)
c.1361T= (p.Met454=)
8g.71216760A>CCA371466716EYA1c.1292T>G (p.Met431Arg)
c.1190T>G (p.Met397Arg)
c.1187T>G (p.Met396Arg)
c.*571T>G (n.*571T>G)
c.682T>G
n.1755T>G
c.*969T>G (n.*969T>G)
c.1379T>G (p.Met460Arg)
c.1274T>G (p.Met425Arg)
n.362T>G
c.1271T>G (p.Met424Arg)
c.1193T>G (p.Met398Arg)
c.1289T>G (p.Met430Arg)
c.*237T>G (n.*237T>G)
n.1787T>G
c.926T>G (p.Met309Arg)
c.1364T>G (p.Met455Arg)
c.1277T>G (p.Met426Arg)
c.1229T>G (p.Met410Arg)
c.941T>G (p.Met314Arg)
c.1376T>G (p.Met459Arg)
c.1361T>G (p.Met454Arg)
 gnomAD v4
8g.71216760A>GCA371466717EYA1c.1292T>C (p.Met431Thr)
c.1190T>C (p.Met397Thr)
c.1187T>C (p.Met396Thr)
c.*571T>C (n.*571T>C)
c.682T>C
n.1755T>C
c.*969T>C (n.*969T>C)
c.1379T>C (p.Met460Thr)
c.1274T>C (p.Met425Thr)
n.362T>C
c.1271T>C (p.Met424Thr)
c.1193T>C (p.Met398Thr)
c.1289T>C (p.Met430Thr)
c.*237T>C (n.*237T>C)
n.1787T>C
c.926T>C (p.Met309Thr)
c.1364T>C (p.Met455Thr)
c.1277T>C (p.Met426Thr)
c.1229T>C (p.Met410Thr)
c.941T>C (p.Met314Thr)
c.1376T>C (p.Met459Thr)
c.1361T>C (p.Met454Thr)
 dbSNP gnomAD v4
8g.71216760A>TCA371466718EYA1c.1292T>A (p.Met431Lys)
c.1190T>A (p.Met397Lys)
c.1187T>A (p.Met396Lys)
c.*571T>A (n.*571T>A)
c.682T>A
n.1755T>A
c.*969T>A (n.*969T>A)
c.1379T>A (p.Met460Lys)
c.1274T>A (p.Met425Lys)
n.362T>A
c.1271T>A (p.Met424Lys)
c.1193T>A (p.Met398Lys)
c.1289T>A (p.Met430Lys)
c.*237T>A (n.*237T>A)
n.1787T>A
c.926T>A (p.Met309Lys)
c.1364T>A (p.Met455Lys)
c.1277T>A (p.Met426Lys)
c.1229T>A (p.Met410Lys)
c.941T>A (p.Met314Lys)
c.1376T>A (p.Met459Lys)
c.1361T>A (p.Met454Lys)
8g.71216761T>ACA371466719EYA1c.1291A>T (p.Met431Leu)
c.1189A>T (p.Met397Leu)
c.1186A>T (p.Met396Leu)
c.*570A>T (n.*570A>T)
c.681A>T
n.1754A>T
c.*968A>T (n.*968A>T)
c.1378A>T (p.Met460Leu)
c.1273A>T (p.Met425Leu)
n.361A>T
c.1270A>T (p.Met424Leu)
c.1192A>T (p.Met398Leu)
c.1288A>T (p.Met430Leu)
c.*236A>T (n.*236A>T)
n.1786A>T
c.925A>T (p.Met309Leu)
c.1363A>T (p.Met455Leu)
c.1276A>T (p.Met426Leu)
c.1228A>T (p.Met410Leu)
c.940A>T (p.Met314Leu)
c.1375A>T (p.Met459Leu)
c.1360A>T (p.Met454Leu)
8g.71216761T>CCA371466720EYA1c.1291A>G (p.Met431Val)
c.1189A>G (p.Met397Val)
c.1186A>G (p.Met396Val)
c.*570A>G (n.*570A>G)
c.681A>G
n.1754A>G
c.*968A>G (n.*968A>G)
c.1378A>G (p.Met460Val)
c.1273A>G (p.Met425Val)
n.361A>G
c.1270A>G (p.Met424Val)
c.1192A>G (p.Met398Val)
c.1288A>G (p.Met430Val)
c.*236A>G (n.*236A>G)
n.1786A>G
c.925A>G (p.Met309Val)
c.1363A>G (p.Met455Val)
c.1276A>G (p.Met426Val)
c.1228A>G (p.Met410Val)
c.940A>G (p.Met314Val)
c.1375A>G (p.Met459Val)
c.1360A>G (p.Met454Val)
8g.71216761T>GCA371466721EYA1c.1291A>C (p.Met431Leu)
c.1189A>C (p.Met397Leu)
c.1186A>C (p.Met396Leu)
c.*570A>C (n.*570A>C)
c.681A>C
n.1754A>C
c.*968A>C (n.*968A>C)
c.1378A>C (p.Met460Leu)
c.1273A>C (p.Met425Leu)
n.361A>C
c.1270A>C (p.Met424Leu)
c.1192A>C (p.Met398Leu)
c.1288A>C (p.Met430Leu)
c.*236A>C (n.*236A>C)
n.1786A>C
c.925A>C (p.Met309Leu)
c.1363A>C (p.Met455Leu)
c.1276A>C (p.Met426Leu)
c.1228A>C (p.Met410Leu)
c.940A>C (p.Met314Leu)
c.1375A>C (p.Met459Leu)
c.1360A>C (p.Met454Leu)
8g.71216762C>ACA371466722EYA1c.1290G>T (p.Trp430Cys)
c.1188G>T (p.Trp396Cys)
c.1185G>T (p.Trp395Cys)
c.*569G>T (n.*569G>T)
c.680G>T
n.1753G>T
c.*967G>T (n.*967G>T)
c.1377G>T (p.Trp459Cys)
c.1272G>T (p.Trp424Cys)
n.360G>T
c.1269G>T (p.Trp423Cys)
c.1191G>T (p.Trp397Cys)
c.1287G>T (p.Trp429Cys)
c.*235G>T (n.*235G>T)
n.1785G>T
c.924G>T (p.Trp308Cys)
c.1362G>T (p.Trp454Cys)
c.1275G>T (p.Trp425Cys)
c.1227G>T (p.Trp409Cys)
c.939G>T (p.Trp313Cys)
c.1374G>T (p.Trp458Cys)
c.1359G>T (p.Trp453Cys)
 COSMIC
8g.71216762C>GCA371466723EYA1c.1290G>C (p.Trp430Cys)
c.1188G>C (p.Trp396Cys)
c.1185G>C (p.Trp395Cys)
c.*569G>C (n.*569G>C)
c.680G>C
n.1753G>C
c.*967G>C (n.*967G>C)
c.1377G>C (p.Trp459Cys)
c.1272G>C (p.Trp424Cys)
n.360G>C
c.1269G>C (p.Trp423Cys)
c.1191G>C (p.Trp397Cys)
c.1287G>C (p.Trp429Cys)
c.*235G>C (n.*235G>C)
n.1785G>C
c.924G>C (p.Trp308Cys)
c.1362G>C (p.Trp454Cys)
c.1275G>C (p.Trp425Cys)
c.1227G>C (p.Trp409Cys)
c.939G>C (p.Trp313Cys)
c.1374G>C (p.Trp458Cys)
c.1359G>C (p.Trp453Cys)
8g.71216762C>TCA371466724EYA1c.1290G>A (p.Trp430Ter)
c.1188G>A (p.Trp396Ter)
c.1185G>A (p.Trp395Ter)
c.*569G>A (n.*569G>A)
c.680G>A
n.1753G>A
c.*967G>A (n.*967G>A)
c.1377G>A (p.Trp459Ter)
c.1272G>A (p.Trp424Ter)
n.360G>A
c.1269G>A (p.Trp423Ter)
c.1191G>A (p.Trp397Ter)
c.1287G>A (p.Trp429Ter)
c.*235G>A (n.*235G>A)
n.1785G>A
c.924G>A (p.Trp308Ter)
c.1362G>A (p.Trp454Ter)
c.1275G>A (p.Trp425Ter)
c.1227G>A (p.Trp409Ter)
c.939G>A (p.Trp313Ter)
c.1374G>A (p.Trp458Ter)
c.1359G>A (p.Trp453Ter)
8g.71216763C>ACA371466725EYA1c.1289G>T (p.Trp430Leu)
c.1187G>T (p.Trp396Leu)
c.1184G>T (p.Trp395Leu)
c.*568G>T (n.*568G>T)
c.679G>T
n.1752G>T
c.*966G>T (n.*966G>T)
c.1376G>T (p.Trp459Leu)
c.1271G>T (p.Trp424Leu)
n.359G>T
c.1268G>T (p.Trp423Leu)
c.1190G>T (p.Trp397Leu)
c.1286G>T (p.Trp429Leu)
c.*234G>T (n.*234G>T)
n.1784G>T
c.923G>T (p.Trp308Leu)
c.1361G>T (p.Trp454Leu)
c.1274G>T (p.Trp425Leu)
c.1226G>T (p.Trp409Leu)
c.938G>T (p.Trp313Leu)
c.1373G>T (p.Trp458Leu)
c.1358G>T (p.Trp453Leu)
8g.71216763C>GCA371466726EYA1c.1289G>C (p.Trp430Ser)
c.1187G>C (p.Trp396Ser)
c.1184G>C (p.Trp395Ser)
c.*568G>C (n.*568G>C)
c.679G>C
n.1752G>C
c.*966G>C (n.*966G>C)
c.1376G>C (p.Trp459Ser)
c.1271G>C (p.Trp424Ser)
n.359G>C
c.1268G>C (p.Trp423Ser)
c.1190G>C (p.Trp397Ser)
c.1286G>C (p.Trp429Ser)
c.*234G>C (n.*234G>C)
n.1784G>C
c.923G>C (p.Trp308Ser)
c.1361G>C (p.Trp454Ser)
c.1274G>C (p.Trp425Ser)
c.1226G>C (p.Trp409Ser)
c.938G>C (p.Trp313Ser)
c.1373G>C (p.Trp458Ser)
c.1358G>C (p.Trp453Ser)
8g.71216763C>TCA371466727EYA1c.1289G>A (p.Trp430Ter)
c.1187G>A (p.Trp396Ter)
c.1184G>A (p.Trp395Ter)
c.*568G>A (n.*568G>A)
c.679G>A
n.1752G>A
c.*966G>A (n.*966G>A)
c.1376G>A (p.Trp459Ter)
c.1271G>A (p.Trp424Ter)
n.359G>A
c.1268G>A (p.Trp423Ter)
c.1190G>A (p.Trp397Ter)
c.1286G>A (p.Trp429Ter)
c.*234G>A (n.*234G>A)
n.1784G>A
c.923G>A (p.Trp308Ter)
c.1361G>A (p.Trp454Ter)
c.1274G>A (p.Trp425Ter)
c.1226G>A (p.Trp409Ter)
c.938G>A (p.Trp313Ter)
c.1373G>A (p.Trp458Ter)
c.1358G>A (p.Trp453Ter)
8g.71216764A=CA1792692820EYA1c.1288T= (p.Trp430=)
c.1186T= (p.Trp396=)
c.1183T= (p.Trp395=)
c.*567T= (n.*567T=)
c.678T=
n.1751T=
c.*965T= (n.*965T=)
c.1375T= (p.Trp459=)
c.1270T= (p.Trp424=)
n.358T=
c.1267T= (p.Trp423=)
c.1189T= (p.Trp397=)
c.1285T= (p.Trp429=)
c.*233T= (n.*233T=)
n.1783T=
c.922T= (p.Trp308=)
c.1360T= (p.Trp454=)
c.1273T= (p.Trp425=)
c.1225T= (p.Trp409=)
c.937T= (p.Trp313=)
c.1372T= (p.Trp458=)
c.1357T= (p.Trp453=)
8g.71216764A>CCA371466729EYA1c.1288T>G (p.Trp430Gly)
c.1186T>G (p.Trp396Gly)
c.1183T>G (p.Trp395Gly)
c.*567T>G (n.*567T>G)
c.678T>G
n.1751T>G
c.*965T>G (n.*965T>G)
c.1375T>G (p.Trp459Gly)
c.1270T>G (p.Trp424Gly)
n.358T>G
c.1267T>G (p.Trp423Gly)
c.1189T>G (p.Trp397Gly)
c.1285T>G (p.Trp429Gly)
c.*233T>G (n.*233T>G)
n.1783T>G
c.922T>G (p.Trp308Gly)
c.1360T>G (p.Trp454Gly)
c.1273T>G (p.Trp425Gly)
c.1225T>G (p.Trp409Gly)
c.937T>G (p.Trp313Gly)
c.1372T>G (p.Trp458Gly)
c.1357T>G (p.Trp453Gly)
8g.71216764A>GCA179210100EYA1c.1288T>C (p.Trp430Arg)
c.1186T>C (p.Trp396Arg)
c.1183T>C (p.Trp395Arg)
c.*567T>C (n.*567T>C)
c.678T>C
n.1751T>C
c.*965T>C (n.*965T>C)
c.1375T>C (p.Trp459Arg)
c.1270T>C (p.Trp424Arg)
n.358T>C
c.1267T>C (p.Trp423Arg)
c.1189T>C (p.Trp397Arg)
c.1285T>C (p.Trp429Arg)
c.*233T>C (n.*233T>C)
n.1783T>C
c.922T>C (p.Trp308Arg)
c.1360T>C (p.Trp454Arg)
c.1273T>C (p.Trp425Arg)
c.1225T>C (p.Trp409Arg)
c.937T>C (p.Trp313Arg)
c.1372T>C (p.Trp458Arg)
c.1357T>C (p.Trp453Arg)
 dbSNP
8g.71216764A>TCA371466728EYA1c.1288T>A (p.Trp430Arg)
c.1186T>A (p.Trp396Arg)
c.1183T>A (p.Trp395Arg)
c.*567T>A (n.*567T>A)
c.678T>A
n.1751T>A
c.*965T>A (n.*965T>A)
c.1375T>A (p.Trp459Arg)
c.1270T>A (p.Trp424Arg)
n.358T>A
c.1267T>A (p.Trp423Arg)
c.1189T>A (p.Trp397Arg)
c.1285T>A (p.Trp429Arg)
c.*233T>A (n.*233T>A)
n.1783T>A
c.922T>A (p.Trp308Arg)
c.1360T>A (p.Trp454Arg)
c.1273T>A (p.Trp425Arg)
c.1225T>A (p.Trp409Arg)
c.937T>A (p.Trp313Arg)
c.1372T>A (p.Trp458Arg)
c.1357T>A (p.Trp453Arg)
8g.71216765G>ACA461433975EYA1c.1287C>T (p.Asp429=)
c.1185C>T (p.Asp395=)
c.1182C>T (p.Asp394=)
c.*566C>T (n.*566C>T)
c.677C>T
n.1750C>T
c.*964C>T (n.*964C>T)
c.1374C>T (p.Asp458=)
c.1269C>T (p.Asp423=)
n.357C>T
c.1266C>T (p.Asp422=)
c.1188C>T (p.Asp396=)
c.1284C>T (p.Asp428=)
c.*232C>T (n.*232C>T)
n.1782C>T
c.921C>T (p.Asp307=)
c.1359C>T (p.Asp453=)
c.1272C>T (p.Asp424=)
c.1224C>T (p.Asp408=)
c.936C>T (p.Asp312=)
c.1371C>T (p.Asp457=)
c.1356C>T (p.Asp452=)
8g.71216765G>CCA371466730EYA1c.1287C>G (p.Asp429Glu)
c.1185C>G (p.Asp395Glu)
c.1182C>G (p.Asp394Glu)
c.*566C>G (n.*566C>G)
c.677C>G
n.1750C>G
c.*964C>G (n.*964C>G)
c.1374C>G (p.Asp458Glu)
c.1269C>G (p.Asp423Glu)
n.357C>G
c.1266C>G (p.Asp422Glu)
c.1188C>G (p.Asp396Glu)
c.1284C>G (p.Asp428Glu)
c.*232C>G (n.*232C>G)
n.1782C>G
c.921C>G (p.Asp307Glu)
c.1359C>G (p.Asp453Glu)
c.1272C>G (p.Asp424Glu)
c.1224C>G (p.Asp408Glu)
c.936C>G (p.Asp312Glu)
c.1371C>G (p.Asp457Glu)
c.1356C>G (p.Asp452Glu)
 ClinVar dbSNP gnomAD v4
8g.71216765G=CA1792692824EYA1c.1287C= (p.Asp429=)
c.1185C= (p.Asp395=)
c.1182C= (p.Asp394=)
c.*566C= (n.*566C=)
c.677C=
n.1750C=
c.*964C= (n.*964C=)
c.1374C= (p.Asp458=)
c.1269C= (p.Asp423=)
n.357C=
c.1266C= (p.Asp422=)
c.1188C= (p.Asp396=)
c.1284C= (p.Asp428=)
c.*232C= (n.*232C=)
n.1782C=
c.921C= (p.Asp307=)
c.1359C= (p.Asp453=)
c.1272C= (p.Asp424=)
c.1224C= (p.Asp408=)
c.936C= (p.Asp312=)
c.1371C= (p.Asp457=)
c.1356C= (p.Asp452=)
8g.71216765G>TCA371466731EYA1c.1287C>A (p.Asp429Glu)
c.1185C>A (p.Asp395Glu)
c.1182C>A (p.Asp394Glu)
c.*566C>A (n.*566C>A)
c.677C>A
n.1750C>A
c.*964C>A (n.*964C>A)
c.1374C>A (p.Asp458Glu)
c.1269C>A (p.Asp423Glu)
n.357C>A
c.1266C>A (p.Asp422Glu)
c.1188C>A (p.Asp396Glu)
c.1284C>A (p.Asp428Glu)
c.*232C>A (n.*232C>A)
n.1782C>A
c.921C>A (p.Asp307Glu)
c.1359C>A (p.Asp453Glu)
c.1272C>A (p.Asp424Glu)
c.1224C>A (p.Asp408Glu)
c.936C>A (p.Asp312Glu)
c.1371C>A (p.Asp457Glu)
c.1356C>A (p.Asp452Glu)
8g.71216766T>ACA371466732EYA1c.1286A>T (p.Asp429Val)
c.1184A>T (p.Asp395Val)
c.1181A>T (p.Asp394Val)
c.*565A>T (n.*565A>T)
c.676A>T
n.1749A>T
c.*963A>T (n.*963A>T)
c.1373A>T (p.Asp458Val)
c.1268A>T (p.Asp423Val)
n.356A>T
c.1265A>T (p.Asp422Val)
c.1187A>T (p.Asp396Val)
c.1283A>T (p.Asp428Val)
c.*231A>T (n.*231A>T)
n.1781A>T
c.920A>T (p.Asp307Val)
c.1358A>T (p.Asp453Val)
c.1271A>T (p.Asp424Val)
c.1223A>T (p.Asp408Val)
c.935A>T (p.Asp312Val)
c.1370A>T (p.Asp457Val)
c.1355A>T (p.Asp452Val)
8g.71216766T>CCA371466733EYA1c.1286A>G (p.Asp429Gly)
c.1184A>G (p.Asp395Gly)
c.1181A>G (p.Asp394Gly)
c.*565A>G (n.*565A>G)
c.676A>G
n.1749A>G
c.*963A>G (n.*963A>G)
c.1373A>G (p.Asp458Gly)
c.1268A>G (p.Asp423Gly)
n.356A>G
c.1265A>G (p.Asp422Gly)
c.1187A>G (p.Asp396Gly)
c.1283A>G (p.Asp428Gly)
c.*231A>G (n.*231A>G)
n.1781A>G
c.920A>G (p.Asp307Gly)
c.1358A>G (p.Asp453Gly)
c.1271A>G (p.Asp424Gly)
c.1223A>G (p.Asp408Gly)
c.935A>G (p.Asp312Gly)
c.1370A>G (p.Asp457Gly)
c.1355A>G (p.Asp452Gly)
8g.71216766T>GCA371466734EYA1c.1286A>C (p.Asp429Ala)
c.1184A>C (p.Asp395Ala)
c.1181A>C (p.Asp394Ala)
c.*565A>C (n.*565A>C)
c.676A>C
n.1749A>C
c.*963A>C (n.*963A>C)
c.1373A>C (p.Asp458Ala)
c.1268A>C (p.Asp423Ala)
n.356A>C
c.1265A>C (p.Asp422Ala)
c.1187A>C (p.Asp396Ala)
c.1283A>C (p.Asp428Ala)
c.*231A>C (n.*231A>C)
n.1781A>C
c.920A>C (p.Asp307Ala)
c.1358A>C (p.Asp453Ala)
c.1271A>C (p.Asp424Ala)
c.1223A>C (p.Asp408Ala)
c.935A>C (p.Asp312Ala)
c.1370A>C (p.Asp457Ala)
c.1355A>C (p.Asp452Ala)
8g.71216767C>ACA371466735EYA1c.1285G>T (p.Asp429Tyr)
c.1183G>T (p.Asp395Tyr)
c.1180G>T (p.Asp394Tyr)
c.*564G>T (n.*564G>T)
c.675G>T
n.1748G>T
c.*962G>T (n.*962G>T)
c.1372G>T (p.Asp458Tyr)
c.1267G>T (p.Asp423Tyr)
n.355G>T
c.1264G>T (p.Asp422Tyr)
c.1186G>T (p.Asp396Tyr)
c.1282G>T (p.Asp428Tyr)
c.*230G>T (n.*230G>T)
n.1780G>T
c.919G>T (p.Asp307Tyr)
c.1357G>T (p.Asp453Tyr)
c.1270G>T (p.Asp424Tyr)
c.1222G>T (p.Asp408Tyr)
c.934G>T (p.Asp312Tyr)
c.1369G>T (p.Asp457Tyr)
c.1354G>T (p.Asp452Tyr)
8g.71216767C>GCA371466736EYA1c.1285G>C (p.Asp429His)
c.1183G>C (p.Asp395His)
c.1180G>C (p.Asp394His)
c.*564G>C (n.*564G>C)
c.675G>C
n.1748G>C
c.*962G>C (n.*962G>C)
c.1372G>C (p.Asp458His)
c.1267G>C (p.Asp423His)
n.355G>C
c.1264G>C (p.Asp422His)
c.1186G>C (p.Asp396His)
c.1282G>C (p.Asp428His)
c.*230G>C (n.*230G>C)
n.1780G>C
c.919G>C (p.Asp307His)
c.1357G>C (p.Asp453His)
c.1270G>C (p.Asp424His)
c.1222G>C (p.Asp408His)
c.934G>C (p.Asp312His)
c.1369G>C (p.Asp457His)
c.1354G>C (p.Asp452His)
 ClinVar
8g.71216767C>TCA371466737EYA1c.1285G>A (p.Asp429Asn)
c.1183G>A (p.Asp395Asn)
c.1180G>A (p.Asp394Asn)
c.*564G>A (n.*564G>A)
c.675G>A
n.1748G>A
c.*962G>A (n.*962G>A)
c.1372G>A (p.Asp458Asn)
c.1267G>A (p.Asp423Asn)
n.355G>A
c.1264G>A (p.Asp422Asn)
c.1186G>A (p.Asp396Asn)
c.1282G>A (p.Asp428Asn)
c.*230G>A (n.*230G>A)
n.1780G>A
c.919G>A (p.Asp307Asn)
c.1357G>A (p.Asp453Asn)
c.1270G>A (p.Asp424Asn)
c.1222G>A (p.Asp408Asn)
c.934G>A (p.Asp312Asn)
c.1369G>A (p.Asp457Asn)
c.1354G>A (p.Asp452Asn)
8g.71216768C>ACA461433985EYA1c.1284G>T (p.Val428=)
c.1182G>T (p.Val394=)
c.1179G>T (p.Val393=)
c.*563G>T (n.*563G>T)
c.674G>T
n.1747G>T
c.*961G>T (n.*961G>T)
c.1371G>T (p.Val457=)
c.1266G>T (p.Val422=)
n.354G>T
c.1263G>T (p.Val421=)
c.1185G>T (p.Val395=)
c.1281G>T (p.Val427=)
c.*229G>T (n.*229G>T)
n.1779G>T
c.918G>T (p.Val306=)
c.1356G>T (p.Val452=)
c.1269G>T (p.Val423=)
c.1221G>T (p.Val407=)
c.933G>T (p.Val311=)
c.1368G>T (p.Val456=)
c.1353G>T (p.Val451=)
8g.71216768C>GCA461433986EYA1c.1284G>C (p.Val428=)
c.1182G>C (p.Val394=)
c.1179G>C (p.Val393=)
c.*563G>C (n.*563G>C)
c.674G>C
n.1747G>C
c.*961G>C (n.*961G>C)
c.1371G>C (p.Val457=)
c.1266G>C (p.Val422=)
n.354G>C
c.1263G>C (p.Val421=)
c.1185G>C (p.Val395=)
c.1281G>C (p.Val427=)
c.*229G>C (n.*229G>C)
n.1779G>C
c.918G>C (p.Val306=)
c.1356G>C (p.Val452=)
c.1269G>C (p.Val423=)
c.1221G>C (p.Val407=)
c.933G>C (p.Val311=)
c.1368G>C (p.Val456=)
c.1353G>C (p.Val451=)
8g.71216768C>TCA461433987EYA1c.1284G>A (p.Val428=)
c.1182G>A (p.Val394=)
c.1179G>A (p.Val393=)
c.*563G>A (n.*563G>A)
c.674G>A
n.1747G>A
c.*961G>A (n.*961G>A)
c.1371G>A (p.Val457=)
c.1266G>A (p.Val422=)
n.354G>A
c.1263G>A (p.Val421=)
c.1185G>A (p.Val395=)
c.1281G>A (p.Val427=)
c.*229G>A (n.*229G>A)
n.1779G>A
c.918G>A (p.Val306=)
c.1356G>A (p.Val452=)
c.1269G>A (p.Val423=)
c.1221G>A (p.Val407=)
c.933G>A (p.Val311=)
c.1368G>A (p.Val456=)
c.1353G>A (p.Val451=)
8g.71216769A>CCA371466738EYA1c.1283T>G (p.Val428Gly)
c.1181T>G (p.Val394Gly)
c.1178T>G (p.Val393Gly)
c.*562T>G (n.*562T>G)
c.673T>G
n.1746T>G
c.*960T>G (n.*960T>G)
c.1370T>G (p.Val457Gly)
c.1265T>G (p.Val422Gly)
n.353T>G
c.1262T>G (p.Val421Gly)
c.1184T>G (p.Val395Gly)
c.1280T>G (p.Val427Gly)
c.*228T>G (n.*228T>G)
n.1778T>G
c.917T>G (p.Val306Gly)
c.1355T>G (p.Val452Gly)
c.1268T>G (p.Val423Gly)
c.1220T>G (p.Val407Gly)
c.932T>G (p.Val311Gly)
c.1367T>G (p.Val456Gly)
c.1352T>G (p.Val451Gly)
8g.71216769A>GCA371466739EYA1c.1283T>C (p.Val428Ala)
c.1181T>C (p.Val394Ala)
c.1178T>C (p.Val393Ala)
c.*562T>C (n.*562T>C)
c.673T>C
n.1746T>C
c.*960T>C (n.*960T>C)
c.1370T>C (p.Val457Ala)
c.1265T>C (p.Val422Ala)
n.353T>C
c.1262T>C (p.Val421Ala)
c.1184T>C (p.Val395Ala)
c.1280T>C (p.Val427Ala)
c.*228T>C (n.*228T>C)
n.1778T>C
c.917T>C (p.Val306Ala)
c.1355T>C (p.Val452Ala)
c.1268T>C (p.Val423Ala)
c.1220T>C (p.Val407Ala)
c.932T>C (p.Val311Ala)
c.1367T>C (p.Val456Ala)
c.1352T>C (p.Val451Ala)
8g.71216769A>TCA371466740EYA1c.1283T>A (p.Val428Glu)
c.1181T>A (p.Val394Glu)
c.1178T>A (p.Val393Glu)
c.*562T>A (n.*562T>A)
c.673T>A
n.1746T>A
c.*960T>A (n.*960T>A)
c.1370T>A (p.Val457Glu)
c.1265T>A (p.Val422Glu)
n.353T>A
c.1262T>A (p.Val421Glu)
c.1184T>A (p.Val395Glu)
c.1280T>A (p.Val427Glu)
c.*228T>A (n.*228T>A)
n.1778T>A
c.917T>A (p.Val306Glu)
c.1355T>A (p.Val452Glu)
c.1268T>A (p.Val423Glu)
c.1220T>A (p.Val407Glu)
c.932T>A (p.Val311Glu)
c.1367T>A (p.Val456Glu)
c.1352T>A (p.Val451Glu)
8g.71216770C>ACA371466743EYA1c.1282G>T (p.Val428Leu)
c.1180G>T (p.Val394Leu)
c.1177G>T (p.Val393Leu)
c.*561G>T (n.*561G>T)
c.672G>T
n.1745G>T
c.*959G>T (n.*959G>T)
c.1369G>T (p.Val457Leu)
c.1264G>T (p.Val422Leu)
n.352G>T
c.1261G>T (p.Val421Leu)
c.1183G>T (p.Val395Leu)
c.1279G>T (p.Val427Leu)
c.*227G>T (n.*227G>T)
n.1777G>T
c.916G>T (p.Val306Leu)
c.1354G>T (p.Val452Leu)
c.1267G>T (p.Val423Leu)
c.1219G>T (p.Val407Leu)
c.931G>T (p.Val311Leu)
c.1366G>T (p.Val456Leu)
c.1351G>T (p.Val451Leu)
8g.71216770C=CA1792692828EYA1c.1282G= (p.Val428=)
c.1180G= (p.Val394=)
c.1177G= (p.Val393=)
c.*561G= (n.*561G=)
c.672G=
n.1745G=
c.*959G= (n.*959G=)
c.1369G= (p.Val457=)
c.1264G= (p.Val422=)
n.352G=
c.1261G= (p.Val421=)
c.1183G= (p.Val395=)
c.1279G= (p.Val427=)
c.*227G= (n.*227G=)
n.1777G=
c.916G= (p.Val306=)
c.1354G= (p.Val452=)
c.1267G= (p.Val423=)
c.1219G= (p.Val407=)
c.931G= (p.Val311=)
c.1366G= (p.Val456=)
c.1351G= (p.Val451=)
8g.71216770C>GCA371466742EYA1c.1282G>C (p.Val428Leu)
c.1180G>C (p.Val394Leu)
c.1177G>C (p.Val393Leu)
c.*561G>C (n.*561G>C)
c.672G>C
n.1745G>C
c.*959G>C (n.*959G>C)
c.1369G>C (p.Val457Leu)
c.1264G>C (p.Val422Leu)
n.352G>C
c.1261G>C (p.Val421Leu)
c.1183G>C (p.Val395Leu)
c.1279G>C (p.Val427Leu)
c.*227G>C (n.*227G>C)
n.1777G>C
c.916G>C (p.Val306Leu)
c.1354G>C (p.Val452Leu)
c.1267G>C (p.Val423Leu)
c.1219G>C (p.Val407Leu)
c.931G>C (p.Val311Leu)
c.1366G>C (p.Val456Leu)
c.1351G>C (p.Val451Leu)
8g.71216770C>TCA371466741EYA1c.1282G>A (p.Val428Met)
c.1180G>A (p.Val394Met)
c.1177G>A (p.Val393Met)
c.*561G>A (n.*561G>A)
c.672G>A
n.1745G>A
c.*959G>A (n.*959G>A)
c.1369G>A (p.Val457Met)
c.1264G>A (p.Val422Met)
n.352G>A
c.1261G>A (p.Val421Met)
c.1183G>A (p.Val395Met)
c.1279G>A (p.Val427Met)
c.*227G>A (n.*227G>A)
n.1777G>A
c.916G>A (p.Val306Met)
c.1354G>A (p.Val452Met)
c.1267G>A (p.Val423Met)
c.1219G>A (p.Val407Met)
c.931G>A (p.Val311Met)
c.1366G>A (p.Val456Met)
c.1351G>A (p.Val451Met)
 dbSNP
8g.71216771A>CCA461433992EYA1c.1281T>G (p.Gly427=)
c.1179T>G (p.Gly393=)
c.1176T>G (p.Gly392=)
c.*560T>G (n.*560T>G)
c.671T>G
n.1744T>G
c.*958T>G (n.*958T>G)
c.1368T>G (p.Gly456=)
c.1263T>G (p.Gly421=)
n.351T>G
c.1260T>G (p.Gly420=)
c.1182T>G (p.Gly394=)
c.1278T>G (p.Gly426=)
c.*226T>G (n.*226T>G)
n.1776T>G
c.915T>G (p.Gly305=)
c.1353T>G (p.Gly451=)
c.1266T>G (p.Gly422=)
c.1218T>G (p.Gly406=)
c.930T>G (p.Gly310=)
c.1365T>G (p.Gly455=)
c.1350T>G (p.Gly450=)
 COSMIC COSMIC
8g.71216771A>GCA461433993EYA1c.1281T>C (p.Gly427=)
c.1179T>C (p.Gly393=)
c.1176T>C (p.Gly392=)
c.*560T>C (n.*560T>C)
c.671T>C
n.1744T>C
c.*958T>C (n.*958T>C)
c.1368T>C (p.Gly456=)
c.1263T>C (p.Gly421=)
n.351T>C
c.1260T>C (p.Gly420=)
c.1182T>C (p.Gly394=)
c.1278T>C (p.Gly426=)
c.*226T>C (n.*226T>C)
n.1776T>C
c.915T>C (p.Gly305=)
c.1353T>C (p.Gly451=)
c.1266T>C (p.Gly422=)
c.1218T>C (p.Gly406=)
c.930T>C (p.Gly310=)
c.1365T>C (p.Gly455=)
c.1350T>C (p.Gly450=)
 gnomAD v4
8g.71216771A>TCA461433994EYA1c.1281T>A (p.Gly427=)
c.1179T>A (p.Gly393=)
c.1176T>A (p.Gly392=)
c.*560T>A (n.*560T>A)
c.671T>A
n.1744T>A
c.*958T>A (n.*958T>A)
c.1368T>A (p.Gly456=)
c.1263T>A (p.Gly421=)
n.351T>A
c.1260T>A (p.Gly420=)
c.1182T>A (p.Gly394=)
c.1278T>A (p.Gly426=)
c.*226T>A (n.*226T>A)
n.1776T>A
c.915T>A (p.Gly305=)
c.1353T>A (p.Gly451=)
c.1266T>A (p.Gly422=)
c.1218T>A (p.Gly406=)
c.930T>A (p.Gly310=)
c.1365T>A (p.Gly455=)
c.1350T>A (p.Gly450=)
8g.71216772C>ACA371466744EYA1c.1280G>T (p.Gly427Val)
c.1178G>T (p.Gly393Val)
c.1175G>T (p.Gly392Val)
c.*559G>T (n.*559G>T)
c.670G>T
n.1743G>T
c.*957G>T (n.*957G>T)
c.1367G>T (p.Gly456Val)
c.1262G>T (p.Gly421Val)
n.350G>T
c.1259G>T (p.Gly420Val)
c.1181G>T (p.Gly394Val)
c.1277G>T (p.Gly426Val)
c.*225G>T (n.*225G>T)
n.1775G>T
c.914G>T (p.Gly305Val)
c.1352G>T (p.Gly451Val)
c.1265G>T (p.Gly422Val)
c.1217G>T (p.Gly406Val)
c.929G>T (p.Gly310Val)
c.1364G>T (p.Gly455Val)
c.1349G>T (p.Gly450Val)
8g.71216772C=CA1792692831EYA1c.1280G= (p.Gly427=)
c.1178G= (p.Gly393=)
c.1175G= (p.Gly392=)
c.*559G= (n.*559G=)
c.670G=
n.1743G=
c.*957G= (n.*957G=)
c.1367G= (p.Gly456=)
c.1262G= (p.Gly421=)
n.350G=
c.1259G= (p.Gly420=)
c.1181G= (p.Gly394=)
c.1277G= (p.Gly426=)
c.*225G= (n.*225G=)
n.1775G=
c.914G= (p.Gly305=)
c.1352G= (p.Gly451=)
c.1265G= (p.Gly422=)
c.1217G= (p.Gly406=)
c.929G= (p.Gly310=)
c.1364G= (p.Gly455=)
c.1349G= (p.Gly450=)
8g.71216772C>GCA371466745EYA1c.1280G>C (p.Gly427Ala)
c.1178G>C (p.Gly393Ala)
c.1175G>C (p.Gly392Ala)
c.*559G>C (n.*559G>C)
c.670G>C
n.1743G>C
c.*957G>C (n.*957G>C)
c.1367G>C (p.Gly456Ala)
c.1262G>C (p.Gly421Ala)
n.350G>C
c.1259G>C (p.Gly420Ala)
c.1181G>C (p.Gly394Ala)
c.1277G>C (p.Gly426Ala)
c.*225G>C (n.*225G>C)
n.1775G>C
c.914G>C (p.Gly305Ala)
c.1352G>C (p.Gly451Ala)
c.1265G>C (p.Gly422Ala)
c.1217G>C (p.Gly406Ala)
c.929G>C (p.Gly310Ala)
c.1364G>C (p.Gly455Ala)
c.1349G>C (p.Gly450Ala)
8g.71216772C>TCA4779506EYA1c.1280G>A (p.Gly427Asp)
c.1178G>A (p.Gly393Asp)
c.1175G>A (p.Gly392Asp)
c.*559G>A (n.*559G>A)
c.670G>A
n.1743G>A
c.*957G>A (n.*957G>A)
c.1367G>A (p.Gly456Asp)
c.1262G>A (p.Gly421Asp)
n.350G>A
c.1259G>A (p.Gly420Asp)
c.1181G>A (p.Gly394Asp)
c.1277G>A (p.Gly426Asp)
c.*225G>A (n.*225G>A)
n.1775G>A
c.914G>A (p.Gly305Asp)
c.1352G>A (p.Gly451Asp)
c.1265G>A (p.Gly422Asp)
c.1217G>A (p.Gly406Asp)
c.929G>A (p.Gly310Asp)
c.1364G>A (p.Gly455Asp)
c.1349G>A (p.Gly450Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.71216773_71216774insCCCCA2695209874EYA1c.1280_1281insGGG (p.Gly427_Val428insGly)
c.1178_1179insGGG (p.Gly393_Val394insGly)
c.1175_1176insGGG (p.Gly392_Val393insGly)
c.*559_*560insGGG (n.*559_*560insGGG)
c.670_671insGGG
n.1743_1744insGGG
c.*957_*958insGGG (n.*957_*958insGGG)
c.1367_1368insGGG (p.Gly456_Val457insGly)
c.1262_1263insGGG (p.Gly421_Val422insGly)
n.350_351insGGG
c.1259_1260insGGG (p.Gly420_Val421insGly)
c.1181_1182insGGG (p.Gly394_Val395insGly)
c.1277_1278insGGG (p.Gly426_Val427insGly)
c.*225_*226insGGG (n.*225_*226insGGG)
n.1775_1776insGGG
c.914_915insGGG (p.Gly305_Val306insGly)
c.1352_1353insGGG (p.Gly451_Val452insGly)
c.1265_1266insGGG (p.Gly422_Val423insGly)
c.1217_1218insGGG (p.Gly406_Val407insGly)
c.929_930insGGG (p.Gly310_Val311insGly)
c.1364_1365insGGG (p.Gly455_Val456insGly)
c.1349_1350insGGG (p.Gly450_Val451insGly)
8g.71216773C>ACA371466746EYA1c.1279G>T (p.Gly427Cys)
c.1177G>T (p.Gly393Cys)
c.1174G>T (p.Gly392Cys)
c.*558G>T (n.*558G>T)
c.669G>T
n.1742G>T
c.*956G>T (n.*956G>T)
c.1366G>T (p.Gly456Cys)
c.1261G>T (p.Gly421Cys)
n.349G>T
c.1258G>T (p.Gly420Cys)
c.1180G>T (p.Gly394Cys)
c.1276G>T (p.Gly426Cys)
c.*224G>T (n.*224G>T)
n.1774G>T
c.913G>T (p.Gly305Cys)
c.1351G>T (p.Gly451Cys)
c.1264G>T (p.Gly422Cys)
c.1216G>T (p.Gly406Cys)
c.928G>T (p.Gly310Cys)
c.1363G>T (p.Gly455Cys)
c.1348G>T (p.Gly450Cys)
8g.71216773C=CA1792692834EYA1c.1279G= (p.Gly427=)
c.1177G= (p.Gly393=)
c.1174G= (p.Gly392=)
c.*558G= (n.*558G=)
c.669G=
n.1742G=
c.*956G= (n.*956G=)
c.1366G= (p.Gly456=)
c.1261G= (p.Gly421=)
n.349G=
c.1258G= (p.Gly420=)
c.1180G= (p.Gly394=)
c.1276G= (p.Gly426=)
c.*224G= (n.*224G=)
n.1774G=
c.913G= (p.Gly305=)
c.1351G= (p.Gly451=)
c.1264G= (p.Gly422=)
c.1216G= (p.Gly406=)
c.928G= (p.Gly310=)
c.1363G= (p.Gly455=)
c.1348G= (p.Gly450=)
8g.71216773C>GCA371466747EYA1c.1279G>C (p.Gly427Arg)
c.1177G>C (p.Gly393Arg)
c.1174G>C (p.Gly392Arg)
c.*558G>C (n.*558G>C)
c.669G>C
n.1742G>C
c.*956G>C (n.*956G>C)
c.1366G>C (p.Gly456Arg)
c.1261G>C (p.Gly421Arg)
n.349G>C
c.1258G>C (p.Gly420Arg)
c.1180G>C (p.Gly394Arg)
c.1276G>C (p.Gly426Arg)
c.*224G>C (n.*224G>C)
n.1774G>C
c.913G>C (p.Gly305Arg)
c.1351G>C (p.Gly451Arg)
c.1264G>C (p.Gly422Arg)
c.1216G>C (p.Gly406Arg)
c.928G>C (p.Gly310Arg)
c.1363G>C (p.Gly455Arg)
c.1348G>C (p.Gly450Arg)
8g.71216773C>TCA4779507EYA1c.1279G>A (p.Gly427Ser)
c.1177G>A (p.Gly393Ser)
c.1174G>A (p.Gly392Ser)
c.*558G>A (n.*558G>A)
c.669G>A
n.1742G>A
c.*956G>A (n.*956G>A)
c.1366G>A (p.Gly456Ser)
c.1261G>A (p.Gly421Ser)
n.349G>A
c.1258G>A (p.Gly420Ser)
c.1180G>A (p.Gly394Ser)
c.1276G>A (p.Gly426Ser)
c.*224G>A (n.*224G>A)
n.1774G>A
c.913G>A (p.Gly305Ser)
c.1351G>A (p.Gly451Ser)
c.1264G>A (p.Gly422Ser)
c.1216G>A (p.Gly406Ser)
c.928G>A (p.Gly310Ser)
c.1363G>A (p.Gly455Ser)
c.1348G>A (p.Gly450Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.71216774G>ACA142599EYA1c.1278C>T (p.Gly426=)
c.1176C>T (p.Gly392=)
c.1173C>T (p.Gly391=)
c.*557C>T (n.*557C>T)
c.668C>T
n.1741C>T
c.*955C>T (n.*955C>T)
c.1365C>T (p.Gly455=)
c.1260C>T (p.Gly420=)
n.348C>T
c.1257C>T (p.Gly419=)
c.1179C>T (p.Gly393=)
c.1275C>T (p.Gly425=)
c.*223C>T (n.*223C>T)
n.1773C>T
c.912C>T (p.Gly304=)
c.1350C>T (p.Gly450=)
c.1263C>T (p.Gly421=)
c.1215C>T (p.Gly405=)
c.927C>T (p.Gly309=)
c.1362C>T (p.Gly454=)
c.1347C>T (p.Gly449=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.71216774G>CCA461434003EYA1c.1278C>G (p.Gly426=)
c.1176C>G (p.Gly392=)
c.1173C>G (p.Gly391=)
c.*557C>G (n.*557C>G)
c.668C>G
n.1741C>G
c.*955C>G (n.*955C>G)
c.1365C>G (p.Gly455=)
c.1260C>G (p.Gly420=)
n.348C>G
c.1257C>G (p.Gly419=)
c.1179C>G (p.Gly393=)
c.1275C>G (p.Gly425=)
c.*223C>G (n.*223C>G)
n.1773C>G
c.912C>G (p.Gly304=)
c.1350C>G (p.Gly450=)
c.1263C>G (p.Gly421=)
c.1215C>G (p.Gly405=)
c.927C>G (p.Gly309=)
c.1362C>G (p.Gly454=)
c.1347C>G (p.Gly449=)
8g.71216774G=CA1792692841EYA1c.1278C= (p.Gly426=)
c.1176C= (p.Gly392=)
c.1173C= (p.Gly391=)
c.*557C= (n.*557C=)
c.668C=
n.1741C=
c.*955C= (n.*955C=)
c.1365C= (p.Gly455=)
c.1260C= (p.Gly420=)
n.348C=
c.1257C= (p.Gly419=)
c.1179C= (p.Gly393=)
c.1275C= (p.Gly425=)
c.*223C= (n.*223C=)
n.1773C=
c.912C= (p.Gly304=)
c.1350C= (p.Gly450=)
c.1263C= (p.Gly421=)
c.1215C= (p.Gly405=)
c.927C= (p.Gly309=)
c.1362C= (p.Gly454=)
c.1347C= (p.Gly449=)
8g.71216774G>TCA461434004EYA1c.1278C>A (p.Gly426=)
c.1176C>A (p.Gly392=)
c.1173C>A (p.Gly391=)
c.*557C>A (n.*557C>A)
c.668C>A
n.1741C>A
c.*955C>A (n.*955C>A)
c.1365C>A (p.Gly455=)
c.1260C>A (p.Gly420=)
n.348C>A
c.1257C>A (p.Gly419=)
c.1179C>A (p.Gly393=)
c.1275C>A (p.Gly425=)
c.*223C>A (n.*223C>A)
n.1773C>A
c.912C>A (p.Gly304=)
c.1350C>A (p.Gly450=)
c.1263C>A (p.Gly421=)
c.1215C>A (p.Gly405=)
c.927C>A (p.Gly309=)
c.1362C>A (p.Gly454=)
c.1347C>A (p.Gly449=)
 dbSNP gnomAD v2 gnomAD v4
8g.71216775C>ACA371466748EYA1c.1277G>T (p.Gly426Val)
c.1175G>T (p.Gly392Val)
c.1172G>T (p.Gly391Val)
c.*556G>T (n.*556G>T)
c.667G>T
n.1740G>T
c.*954G>T (n.*954G>T)
c.1364G>T (p.Gly455Val)
c.1259G>T (p.Gly420Val)
n.347G>T
c.1256G>T (p.Gly419Val)
c.1178G>T (p.Gly393Val)
c.1274G>T (p.Gly425Val)
c.*222G>T (n.*222G>T)
n.1772G>T
c.911G>T (p.Gly304Val)
c.1349G>T (p.Gly450Val)
c.1262G>T (p.Gly421Val)
c.1214G>T (p.Gly405Val)
c.926G>T (p.Gly309Val)
c.1361G>T (p.Gly454Val)
c.1346G>T (p.Gly449Val)
8g.71216775C=CA1792692847EYA1c.1277G= (p.Gly426=)
c.1175G= (p.Gly392=)
c.1172G= (p.Gly391=)
c.*556G= (n.*556G=)
c.667G=
n.1740G=
c.*954G= (n.*954G=)
c.1364G= (p.Gly455=)
c.1259G= (p.Gly420=)
n.347G=
c.1256G= (p.Gly419=)
c.1178G= (p.Gly393=)
c.1274G= (p.Gly425=)
c.*222G= (n.*222G=)
n.1772G=
c.911G= (p.Gly304=)
c.1349G= (p.Gly450=)
c.1262G= (p.Gly421=)
c.1214G= (p.Gly405=)
c.926G= (p.Gly309=)
c.1361G= (p.Gly454=)
c.1346G= (p.Gly449=)
8g.71216775C>GCA371466749EYA1c.1277G>C (p.Gly426Ala)
c.1175G>C (p.Gly392Ala)
c.1172G>C (p.Gly391Ala)
c.*556G>C (n.*556G>C)
c.667G>C
n.1740G>C
c.*954G>C (n.*954G>C)
c.1364G>C (p.Gly455Ala)
c.1259G>C (p.Gly420Ala)
n.347G>C
c.1256G>C (p.Gly419Ala)
c.1178G>C (p.Gly393Ala)
c.1274G>C (p.Gly425Ala)
c.*222G>C (n.*222G>C)
n.1772G>C
c.911G>C (p.Gly304Ala)
c.1349G>C (p.Gly450Ala)
c.1262G>C (p.Gly421Ala)
c.1214G>C (p.Gly405Ala)
c.926G>C (p.Gly309Ala)
c.1361G>C (p.Gly454Ala)
c.1346G>C (p.Gly449Ala)
 dbSNP gnomAD v2 gnomAD v4
8g.71216775C>TCA371466750EYA1c.1277G>A (p.Gly426Asp)
c.1175G>A (p.Gly392Asp)
c.1172G>A (p.Gly391Asp)
c.*556G>A (n.*556G>A)
c.667G>A
n.1740G>A
c.*954G>A (n.*954G>A)
c.1364G>A (p.Gly455Asp)
c.1259G>A (p.Gly420Asp)
n.347G>A
c.1256G>A (p.Gly419Asp)
c.1178G>A (p.Gly393Asp)
c.1274G>A (p.Gly425Asp)
c.*222G>A (n.*222G>A)
n.1772G>A
c.911G>A (p.Gly304Asp)
c.1349G>A (p.Gly450Asp)
c.1262G>A (p.Gly421Asp)
c.1214G>A (p.Gly405Asp)
c.926G>A (p.Gly309Asp)
c.1361G>A (p.Gly454Asp)
c.1346G>A (p.Gly449Asp)
8g.71216776C>ACA371466751EYA1c.1276G>T (p.Gly426Cys)
c.1174G>T (p.Gly392Cys)
c.1171G>T (p.Gly391Cys)
c.*555G>T (n.*555G>T)
c.666G>T
n.1739G>T
c.*953G>T (n.*953G>T)
c.1363G>T (p.Gly455Cys)
c.1258G>T (p.Gly420Cys)
n.346G>T
c.1255G>T (p.Gly419Cys)
c.1177G>T (p.Gly393Cys)
c.1273G>T (p.Gly425Cys)
c.*221G>T (n.*221G>T)
n.1771G>T
c.910G>T (p.Gly304Cys)
c.1348G>T (p.Gly450Cys)
c.1261G>T (p.Gly421Cys)
c.1213G>T (p.Gly405Cys)
c.925G>T (p.Gly309Cys)
c.1360G>T (p.Gly454Cys)
c.1345G>T (p.Gly449Cys)
8g.71216776C=CA1792692850EYA1c.1276G= (p.Gly426=)
c.1174G= (p.Gly392=)
c.1171G= (p.Gly391=)
c.*555G= (n.*555G=)
c.666G=
n.1739G=
c.*953G= (n.*953G=)
c.1363G= (p.Gly455=)
c.1258G= (p.Gly420=)
n.346G=
c.1255G= (p.Gly419=)
c.1177G= (p.Gly393=)
c.1273G= (p.Gly425=)
c.*221G= (n.*221G=)
n.1771G=
c.910G= (p.Gly304=)
c.1348G= (p.Gly450=)
c.1261G= (p.Gly421=)
c.1213G= (p.Gly405=)
c.925G= (p.Gly309=)
c.1360G= (p.Gly454=)
c.1345G= (p.Gly449=)
8g.71216776C>GCA371466752EYA1c.1276G>C (p.Gly426Arg)
c.1174G>C (p.Gly392Arg)
c.1171G>C (p.Gly391Arg)
c.*555G>C (n.*555G>C)
c.666G>C
n.1739G>C
c.*953G>C (n.*953G>C)
c.1363G>C (p.Gly455Arg)
c.1258G>C (p.Gly420Arg)
n.346G>C
c.1255G>C (p.Gly419Arg)
c.1177G>C (p.Gly393Arg)
c.1273G>C (p.Gly425Arg)
c.*221G>C (n.*221G>C)
n.1771G>C
c.910G>C (p.Gly304Arg)
c.1348G>C (p.Gly450Arg)
c.1261G>C (p.Gly421Arg)
c.1213G>C (p.Gly405Arg)
c.925G>C (p.Gly309Arg)
c.1360G>C (p.Gly454Arg)
c.1345G>C (p.Gly449Arg)
8g.71216776C>TCA119167EYA1c.1276G>A (p.Gly426Ser)
c.1174G>A (p.Gly392Ser)
c.1171G>A (p.Gly391Ser)
c.*555G>A (n.*555G>A)
c.666G>A
n.1739G>A
c.*953G>A (n.*953G>A)
c.1363G>A (p.Gly455Ser)
c.1258G>A (p.Gly420Ser)
n.346G>A
c.1255G>A (p.Gly419Ser)
c.1177G>A (p.Gly393Ser)
c.1273G>A (p.Gly425Ser)
c.*221G>A (n.*221G>A)
n.1771G>A
c.910G>A (p.Gly304Ser)
c.1348G>A (p.Gly450Ser)
c.1261G>A (p.Gly421Ser)
c.1213G>A (p.Gly405Ser)
c.925G>A (p.Gly309Ser)
c.1360G>A (p.Gly454Ser)
c.1345G>A (p.Gly449Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.71216777C>ACA461434016EYA1c.1275G>T (p.Arg425=)
c.1173G>T (p.Arg391=)
c.1170G>T (p.Arg390=)
c.*554G>T (n.*554G>T)
c.665G>T
n.1738G>T
c.*952G>T (n.*952G>T)
c.1362G>T (p.Arg454=)
c.1257G>T (p.Arg419=)
n.345G>T
c.1254G>T (p.Arg418=)
c.1176G>T (p.Arg392=)
c.1272G>T (p.Arg424=)
c.*220G>T (n.*220G>T)
n.1770G>T
c.909G>T (p.Arg303=)
c.1347G>T (p.Arg449=)
c.1260G>T (p.Arg420=)
c.1212G>T (p.Arg404=)
c.924G>T (p.Arg308=)
c.1359G>T (p.Arg453=)
c.1344G>T (p.Arg448=)
8g.71216777C>GCA461434018EYA1c.1275G>C (p.Arg425=)
c.1173G>C (p.Arg391=)
c.1170G>C (p.Arg390=)
c.*554G>C (n.*554G>C)
c.665G>C
n.1738G>C
c.*952G>C (n.*952G>C)
c.1362G>C (p.Arg454=)
c.1257G>C (p.Arg419=)
n.345G>C
c.1254G>C (p.Arg418=)
c.1176G>C (p.Arg392=)
c.1272G>C (p.Arg424=)
c.*220G>C (n.*220G>C)
n.1770G>C
c.909G>C (p.Arg303=)
c.1347G>C (p.Arg449=)
c.1260G>C (p.Arg420=)
c.1212G>C (p.Arg404=)
c.924G>C (p.Arg308=)
c.1359G>C (p.Arg453=)
c.1344G>C (p.Arg448=)
 COSMIC COSMIC
8g.71216777C>TCA461434017EYA1c.1275G>A (p.Arg425=)
c.1173G>A (p.Arg391=)
c.1170G>A (p.Arg390=)
c.*554G>A (n.*554G>A)
c.665G>A
n.1738G>A
c.*952G>A (n.*952G>A)
c.1362G>A (p.Arg454=)
c.1257G>A (p.Arg419=)
n.345G>A
c.1254G>A (p.Arg418=)
c.1176G>A (p.Arg392=)
c.1272G>A (p.Arg424=)
c.*220G>A (n.*220G>A)
n.1770G>A
c.909G>A (p.Arg303=)
c.1347G>A (p.Arg449=)
c.1260G>A (p.Arg420=)
c.1212G>A (p.Arg404=)
c.924G>A (p.Arg308=)
c.1359G>A (p.Arg453=)
c.1344G>A (p.Arg448=)
8g.71216778C>ACA371466754EYA1c.1274G>T (p.Arg425Leu)
c.1172G>T (p.Arg391Leu)
c.1169G>T (p.Arg390Leu)
c.*553G>T (n.*553G>T)
c.664G>T
n.1737G>T
c.*951G>T (n.*951G>T)
c.1361G>T (p.Arg454Leu)
c.1256G>T (p.Arg419Leu)
n.344G>T
c.1253G>T (p.Arg418Leu)
c.1175G>T (p.Arg392Leu)
c.1271G>T (p.Arg424Leu)
c.*219G>T (n.*219G>T)
n.1769G>T
c.908G>T (p.Arg303Leu)
c.1346G>T (p.Arg449Leu)
c.1259G>T (p.Arg420Leu)
c.1211G>T (p.Arg404Leu)
c.923G>T (p.Arg308Leu)
c.1358G>T (p.Arg453Leu)
c.1343G>T (p.Arg448Leu)
8g.71216778C=CA1792692854EYA1c.1274G= (p.Arg425=)
c.1172G= (p.Arg391=)
c.1169G= (p.Arg390=)
c.*553G= (n.*553G=)
c.664G=
n.1737G=
c.*951G= (n.*951G=)
c.1361G= (p.Arg454=)
c.1256G= (p.Arg419=)
n.344G=
c.1253G= (p.Arg418=)
c.1175G= (p.Arg392=)
c.1271G= (p.Arg424=)
c.*219G= (n.*219G=)
n.1769G=
c.908G= (p.Arg303=)
c.1346G= (p.Arg449=)
c.1259G= (p.Arg420=)
c.1211G= (p.Arg404=)
c.923G= (p.Arg308=)
c.1358G= (p.Arg453=)
c.1343G= (p.Arg448=)
8g.71216778C>GCA371466753EYA1c.1274G>C (p.Arg425Pro)
c.1172G>C (p.Arg391Pro)
c.1169G>C (p.Arg390Pro)
c.*553G>C (n.*553G>C)
c.664G>C
n.1737G>C
c.*951G>C (n.*951G>C)
c.1361G>C (p.Arg454Pro)
c.1256G>C (p.Arg419Pro)
n.344G>C
c.1253G>C (p.Arg418Pro)
c.1175G>C (p.Arg392Pro)
c.1271G>C (p.Arg424Pro)
c.*219G>C (n.*219G>C)
n.1769G>C
c.908G>C (p.Arg303Pro)
c.1346G>C (p.Arg449Pro)
c.1259G>C (p.Arg420Pro)
c.1211G>C (p.Arg404Pro)
c.923G>C (p.Arg308Pro)
c.1358G>C (p.Arg453Pro)
c.1343G>C (p.Arg448Pro)
8g.71216778C>TCA4779508EYA1c.1274G>A (p.Arg425Gln)
c.1172G>A (p.Arg391Gln)
c.1169G>A (p.Arg390Gln)
c.*553G>A (n.*553G>A)
c.664G>A
n.1737G>A
c.*951G>A (n.*951G>A)
c.1361G>A (p.Arg454Gln)
c.1256G>A (p.Arg419Gln)
n.344G>A
c.1253G>A (p.Arg418Gln)
c.1175G>A (p.Arg392Gln)
c.1271G>A (p.Arg424Gln)
c.*219G>A (n.*219G>A)
n.1769G>A
c.908G>A (p.Arg303Gln)
c.1346G>A (p.Arg449Gln)
c.1259G>A (p.Arg420Gln)
c.1211G>A (p.Arg404Gln)
c.923G>A (p.Arg308Gln)
c.1358G>A (p.Arg453Gln)
c.1343G>A (p.Arg448Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
8g.71216779G>ACA4779509EYA1c.1273C>T (p.Arg425Trp)
c.1171C>T (p.Arg391Trp)
c.1168C>T (p.Arg390Trp)
c.*552C>T (n.*552C>T)
c.663C>T
n.1736C>T
c.*950C>T (n.*950C>T)
c.1360C>T (p.Arg454Trp)
c.1255C>T (p.Arg419Trp)
n.343C>T
c.1252C>T (p.Arg418Trp)
c.1174C>T (p.Arg392Trp)
c.1270C>T (p.Arg424Trp)
c.*218C>T (n.*218C>T)
n.1768C>T
c.907C>T (p.Arg303Trp)
c.1345C>T (p.Arg449Trp)
c.1258C>T (p.Arg420Trp)
c.1210C>T (p.Arg404Trp)
c.922C>T (p.Arg308Trp)
c.1357C>T (p.Arg453Trp)
c.1342C>T (p.Arg448Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.71216779G>CCA371466755EYA1c.1273C>G (p.Arg425Gly)
c.1171C>G (p.Arg391Gly)
c.1168C>G (p.Arg390Gly)
c.*552C>G (n.*552C>G)
c.663C>G
n.1736C>G
c.*950C>G (n.*950C>G)
c.1360C>G (p.Arg454Gly)
c.1255C>G (p.Arg419Gly)
n.343C>G
c.1252C>G (p.Arg418Gly)
c.1174C>G (p.Arg392Gly)
c.1270C>G (p.Arg424Gly)
c.*218C>G (n.*218C>G)
n.1768C>G
c.907C>G (p.Arg303Gly)
c.1345C>G (p.Arg449Gly)
c.1258C>G (p.Arg420Gly)
c.1210C>G (p.Arg404Gly)
c.922C>G (p.Arg308Gly)
c.1357C>G (p.Arg453Gly)
c.1342C>G (p.Arg448Gly)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.71216779G=CA1792692858EYA1c.1273C= (p.Arg425=)
c.1171C= (p.Arg391=)
c.1168C= (p.Arg390=)
c.*552C= (n.*552C=)
c.663C=
n.1736C=
c.*950C= (n.*950C=)
c.1360C= (p.Arg454=)
c.1255C= (p.Arg419=)
n.343C=
c.1252C= (p.Arg418=)
c.1174C= (p.Arg392=)
c.1270C= (p.Arg424=)
c.*218C= (n.*218C=)
n.1768C=
c.907C= (p.Arg303=)
c.1345C= (p.Arg449=)
c.1258C= (p.Arg420=)
c.1210C= (p.Arg404=)
c.922C= (p.Arg308=)
c.1357C= (p.Arg453=)
c.1342C= (p.Arg448=)
8g.71216779G>TCA461434031EYA1c.1273C>A (p.Arg425=)
c.1171C>A (p.Arg391=)
c.1168C>A (p.Arg390=)
c.*552C>A (n.*552C>A)
c.663C>A
n.1736C>A
c.*950C>A (n.*950C>A)
c.1360C>A (p.Arg454=)
c.1255C>A (p.Arg419=)
n.343C>A
c.1252C>A (p.Arg418=)
c.1174C>A (p.Arg392=)
c.1270C>A (p.Arg424=)
c.*218C>A (n.*218C>A)
n.1768C>A
c.907C>A (p.Arg303=)
c.1345C>A (p.Arg449=)
c.1258C>A (p.Arg420=)
c.1210C>A (p.Arg404=)
c.922C>A (p.Arg308=)
c.1357C>A (p.Arg453=)
c.1342C>A (p.Arg448=)
8g.71216780T>ACA461434032EYA1c.1272A>T (p.Val424=)
c.1170A>T (p.Val390=)
c.1167A>T (p.Val389=)
c.*551A>T (n.*551A>T)
c.662A>T
n.1735A>T
c.*949A>T (n.*949A>T)
c.1359A>T (p.Val453=)
c.1254A>T (p.Val418=)
n.342A>T
c.1251A>T (p.Val417=)
c.1173A>T (p.Val391=)
c.1269A>T (p.Val423=)
c.*217A>T (n.*217A>T)
n.1767A>T
c.906A>T (p.Val302=)
c.1344A>T (p.Val448=)
c.1257A>T (p.Val419=)
c.1209A>T (p.Val403=)
c.921A>T (p.Val307=)
c.1356A>T (p.Val452=)
c.1341A>T (p.Val447=)
8g.71216780T>CCA461434033EYA1c.1272A>G (p.Val424=)
c.1170A>G (p.Val390=)
c.1167A>G (p.Val389=)
c.*551A>G (n.*551A>G)
c.662A>G
n.1735A>G
c.*949A>G (n.*949A>G)
c.1359A>G (p.Val453=)
c.1254A>G (p.Val418=)
n.342A>G
c.1251A>G (p.Val417=)
c.1173A>G (p.Val391=)
c.1269A>G (p.Val423=)
c.*217A>G (n.*217A>G)
n.1767A>G
c.906A>G (p.Val302=)
c.1344A>G (p.Val448=)
c.1257A>G (p.Val419=)
c.1209A>G (p.Val403=)
c.921A>G (p.Val307=)
c.1356A>G (p.Val452=)
c.1341A>G (p.Val447=)
8g.71216780T>GCA461434034EYA1c.1272A>C (p.Val424=)
c.1170A>C (p.Val390=)
c.1167A>C (p.Val389=)
c.*551A>C (n.*551A>C)
c.662A>C
n.1735A>C
c.*949A>C (n.*949A>C)
c.1359A>C (p.Val453=)
c.1254A>C (p.Val418=)
n.342A>C
c.1251A>C (p.Val417=)
c.1173A>C (p.Val391=)
c.1269A>C (p.Val423=)
c.*217A>C (n.*217A>C)
n.1767A>C
c.906A>C (p.Val302=)
c.1344A>C (p.Val448=)
c.1257A>C (p.Val419=)
c.1209A>C (p.Val403=)
c.921A>C (p.Val307=)
c.1356A>C (p.Val452=)
c.1341A>C (p.Val447=)
8g.71216780dupCA2573143310EYA1c.1272dup (p.Arg425ThrfsTer27)
c.1170dup (p.Arg391ThrfsTer27)
c.1167dup (p.Arg390ThrfsTer27)
c.*551dup (n.*551dup)
c.662dup
n.1735dup
c.*949dup (n.*949dup)
c.1359dup (p.Arg454ThrfsTer27)
c.1254dup (p.Arg419ThrfsTer27)
n.342dup
c.1251dup (p.Arg418ThrfsTer27)
c.1173dup (p.Arg392ThrfsTer27)
c.1269dup (p.Arg424ThrfsTer27)
c.*217dup (n.*217dup)
n.1767dup
c.906dup (p.Arg303ThrfsTer27)
c.1344dup (p.Arg449ThrfsTer27)
c.1257dup (p.Arg420ThrfsTer27)
c.1209dup (p.Arg404ThrfsTer27)
c.921dup (p.Arg308ThrfsTer27)
c.1356dup (p.Arg453ThrfsTer27)
c.1341dup (p.Arg448ThrfsTer27)
 ClinVar dbSNP
8g.71216781A>CCA371466756EYA1c.1271T>G (p.Val424Gly)
c.1169T>G (p.Val390Gly)
c.1166T>G (p.Val389Gly)
c.*550T>G (n.*550T>G)
c.661T>G
n.1734T>G
c.*948T>G (n.*948T>G)
c.1358T>G (p.Val453Gly)
c.1253T>G (p.Val418Gly)
n.341T>G
c.1250T>G (p.Val417Gly)
c.1172T>G (p.Val391Gly)
c.1268T>G (p.Val423Gly)
c.*216T>G (n.*216T>G)
n.1766T>G
c.905T>G (p.Val302Gly)
c.1343T>G (p.Val448Gly)
c.1256T>G (p.Val419Gly)
c.1208T>G (p.Val403Gly)
c.920T>G (p.Val307Gly)
c.1355T>G (p.Val452Gly)
c.1340T>G (p.Val447Gly)
8g.71216781A>GCA371466757EYA1c.1271T>C (p.Val424Ala)
c.1169T>C (p.Val390Ala)
c.1166T>C (p.Val389Ala)
c.*550T>C (n.*550T>C)
c.661T>C
n.1734T>C
c.*948T>C (n.*948T>C)
c.1358T>C (p.Val453Ala)
c.1253T>C (p.Val418Ala)
n.341T>C
c.1250T>C (p.Val417Ala)
c.1172T>C (p.Val391Ala)
c.1268T>C (p.Val423Ala)
c.*216T>C (n.*216T>C)
n.1766T>C
c.905T>C (p.Val302Ala)
c.1343T>C (p.Val448Ala)
c.1256T>C (p.Val419Ala)
c.1208T>C (p.Val403Ala)
c.920T>C (p.Val307Ala)
c.1355T>C (p.Val452Ala)
c.1340T>C (p.Val447Ala)
8g.71216781A>TCA371466758EYA1c.1271T>A (p.Val424Glu)
c.1169T>A (p.Val390Glu)
c.1166T>A (p.Val389Glu)
c.*550T>A (n.*550T>A)
c.661T>A
n.1734T>A
c.*948T>A (n.*948T>A)
c.1358T>A (p.Val453Glu)
c.1253T>A (p.Val418Glu)
n.341T>A
c.1250T>A (p.Val417Glu)
c.1172T>A (p.Val391Glu)
c.1268T>A (p.Val423Glu)
c.*216T>A (n.*216T>A)
n.1766T>A
c.905T>A (p.Val302Glu)
c.1343T>A (p.Val448Glu)
c.1256T>A (p.Val419Glu)
c.1208T>A (p.Val403Glu)
c.920T>A (p.Val307Glu)
c.1355T>A (p.Val452Glu)
c.1340T>A (p.Val447Glu)
8g.71216782C>ACA371466759EYA1c.1270G>T (p.Val424Leu)
c.1168G>T (p.Val390Leu)
c.1165G>T (p.Val389Leu)
c.*549G>T (n.*549G>T)
c.660G>T
n.1733G>T
c.*947G>T (n.*947G>T)
c.1357G>T (p.Val453Leu)
c.1252G>T (p.Val418Leu)
n.340G>T
c.1249G>T (p.Val417Leu)
c.1171G>T (p.Val391Leu)
c.1267G>T (p.Val423Leu)
c.*215G>T (n.*215G>T)
n.1765G>T
c.904G>T (p.Val302Leu)
c.1342G>T (p.Val448Leu)
c.1255G>T (p.Val419Leu)
c.1207G>T (p.Val403Leu)
c.919G>T (p.Val307Leu)
c.1354G>T (p.Val452Leu)
c.1339G>T (p.Val447Leu)
8g.71216782C=CA1792692863EYA1c.1270G= (p.Val424=)
c.1168G= (p.Val390=)
c.1165G= (p.Val389=)
c.*549G= (n.*549G=)
c.660G=
n.1733G=
c.*947G= (n.*947G=)
c.1357G= (p.Val453=)
c.1252G= (p.Val418=)
n.340G=
c.1249G= (p.Val417=)
c.1171G= (p.Val391=)
c.1267G= (p.Val423=)
c.*215G= (n.*215G=)
n.1765G=
c.904G= (p.Val302=)
c.1342G= (p.Val448=)
c.1255G= (p.Val419=)
c.1207G= (p.Val403=)
c.919G= (p.Val307=)
c.1354G= (p.Val452=)
c.1339G= (p.Val447=)
8g.71216782C>GCA371466760EYA1c.1270G>C (p.Val424Leu)
c.1168G>C (p.Val390Leu)
c.1165G>C (p.Val389Leu)
c.*549G>C (n.*549G>C)
c.660G>C
n.1733G>C
c.*947G>C (n.*947G>C)
c.1357G>C (p.Val453Leu)
c.1252G>C (p.Val418Leu)
n.340G>C
c.1249G>C (p.Val417Leu)
c.1171G>C (p.Val391Leu)
c.1267G>C (p.Val423Leu)
c.*215G>C (n.*215G>C)
n.1765G>C
c.904G>C (p.Val302Leu)
c.1342G>C (p.Val448Leu)
c.1255G>C (p.Val419Leu)
c.1207G>C (p.Val403Leu)
c.919G>C (p.Val307Leu)
c.1354G>C (p.Val452Leu)
c.1339G>C (p.Val447Leu)
8g.71216782C>TCA4779510EYA1c.1270G>A (p.Val424Ile)
c.1168G>A (p.Val390Ile)
c.1165G>A (p.Val389Ile)
c.*549G>A (n.*549G>A)
c.660G>A
n.1733G>A
c.*947G>A (n.*947G>A)
c.1357G>A (p.Val453Ile)
c.1252G>A (p.Val418Ile)
n.340G>A
c.1249G>A (p.Val417Ile)
c.1171G>A (p.Val391Ile)
c.1267G>A (p.Val423Ile)
c.*215G>A (n.*215G>A)
n.1765G>A
c.904G>A (p.Val302Ile)
c.1342G>A (p.Val448Ile)
c.1255G>A (p.Val419Ile)
c.1207G>A (p.Val403Ile)
c.919G>A (p.Val307Ile)
c.1354G>A (p.Val452Ile)
c.1339G>A (p.Val447Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.71216783A>CCA461434038EYA1c.1269T>G (p.Gly423=)
c.1167T>G (p.Gly389=)
c.1164T>G (p.Gly388=)
c.*548T>G (n.*548T>G)
c.659T>G
n.1732T>G
c.*946T>G (n.*946T>G)
c.1356T>G (p.Gly452=)
c.1251T>G (p.Gly417=)
n.339T>G
c.1248T>G (p.Gly416=)
c.1170T>G (p.Gly390=)
c.1266T>G (p.Gly422=)
c.*214T>G (n.*214T>G)
n.1764T>G
c.903T>G (p.Gly301=)
c.1341T>G (p.Gly447=)
c.1254T>G (p.Gly418=)
c.1206T>G (p.Gly402=)
c.918T>G (p.Gly306=)
c.1353T>G (p.Gly451=)
c.1338T>G (p.Gly446=)
8g.71216783A>GCA461434039EYA1c.1269T>C (p.Gly423=)
c.1167T>C (p.Gly389=)
c.1164T>C (p.Gly388=)
c.*548T>C (n.*548T>C)
c.659T>C
n.1732T>C
c.*946T>C (n.*946T>C)
c.1356T>C (p.Gly452=)
c.1251T>C (p.Gly417=)
n.339T>C
c.1248T>C (p.Gly416=)
c.1170T>C (p.Gly390=)
c.1266T>C (p.Gly422=)
c.*214T>C (n.*214T>C)
n.1764T>C
c.903T>C (p.Gly301=)
c.1341T>C (p.Gly447=)
c.1254T>C (p.Gly418=)
c.1206T>C (p.Gly402=)
c.918T>C (p.Gly306=)
c.1353T>C (p.Gly451=)
c.1338T>C (p.Gly446=)
 gnomAD v4
8g.71216783A>TCA461434040EYA1c.1269T>A (p.Gly423=)
c.1167T>A (p.Gly389=)
c.1164T>A (p.Gly388=)
c.*548T>A (n.*548T>A)
c.659T>A
n.1732T>A
c.*946T>A (n.*946T>A)
c.1356T>A (p.Gly452=)
c.1251T>A (p.Gly417=)
n.339T>A
c.1248T>A (p.Gly416=)
c.1170T>A (p.Gly390=)
c.1266T>A (p.Gly422=)
c.*214T>A (n.*214T>A)
n.1764T>A
c.903T>A (p.Gly301=)
c.1341T>A (p.Gly447=)
c.1254T>A (p.Gly418=)
c.1206T>A (p.Gly402=)
c.918T>A (p.Gly306=)
c.1353T>A (p.Gly451=)
c.1338T>A (p.Gly446=)
8g.71216784C>ACA179210142EYA1c.1268G>T (p.Gly423Val)
c.1166G>T (p.Gly389Val)
c.1163G>T (p.Gly388Val)
c.*547G>T (n.*547G>T)
c.658G>T
n.1731G>T
c.*945G>T (n.*945G>T)
c.1355G>T (p.Gly452Val)
c.1250G>T (p.Gly417Val)
n.338G>T
c.1247G>T (p.Gly416Val)
c.1169G>T (p.Gly390Val)
c.1265G>T (p.Gly422Val)
c.*213G>T (n.*213G>T)
n.1763G>T
c.902G>T (p.Gly301Val)
c.1340G>T (p.Gly447Val)
c.1253G>T (p.Gly418Val)
c.1205G>T (p.Gly402Val)
c.917G>T (p.Gly306Val)
c.1352G>T (p.Gly451Val)
c.1337G>T (p.Gly446Val)
 dbSNP
8g.71216784C=CA1792692867EYA1c.1268G= (p.Gly423=)
c.1166G= (p.Gly389=)
c.1163G= (p.Gly388=)
c.*547G= (n.*547G=)
c.658G=
n.1731G=
c.*945G= (n.*945G=)
c.1355G= (p.Gly452=)
c.1250G= (p.Gly417=)
n.338G=
c.1247G= (p.Gly416=)
c.1169G= (p.Gly390=)
c.1265G= (p.Gly422=)
c.*213G= (n.*213G=)
n.1763G=
c.902G= (p.Gly301=)
c.1340G= (p.Gly447=)
c.1253G= (p.Gly418=)
c.1205G= (p.Gly402=)
c.917G= (p.Gly306=)
c.1352G= (p.Gly451=)
c.1337G= (p.Gly446=)
8g.71216784C>GCA4779511EYA1c.1268G>C (p.Gly423Ala)
c.1166G>C (p.Gly389Ala)
c.1163G>C (p.Gly388Ala)
c.*547G>C (n.*547G>C)
c.658G>C
n.1731G>C
c.*945G>C (n.*945G>C)
c.1355G>C (p.Gly452Ala)
c.1250G>C (p.Gly417Ala)
n.338G>C
c.1247G>C (p.Gly416Ala)
c.1169G>C (p.Gly390Ala)
c.1265G>C (p.Gly422Ala)
c.*213G>C (n.*213G>C)
n.1763G>C
c.902G>C (p.Gly301Ala)
c.1340G>C (p.Gly447Ala)
c.1253G>C (p.Gly418Ala)
c.1205G>C (p.Gly402Ala)
c.917G>C (p.Gly306Ala)
c.1352G>C (p.Gly451Ala)
c.1337G>C (p.Gly446Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.71216784C>TCA371466761EYA1c.1268G>A (p.Gly423Asp)
c.1166G>A (p.Gly389Asp)
c.1163G>A (p.Gly388Asp)
c.*547G>A (n.*547G>A)
c.658G>A
n.1731G>A
c.*945G>A (n.*945G>A)
c.1355G>A (p.Gly452Asp)
c.1250G>A (p.Gly417Asp)
n.338G>A
c.1247G>A (p.Gly416Asp)
c.1169G>A (p.Gly390Asp)
c.1265G>A (p.Gly422Asp)
c.*213G>A (n.*213G>A)
n.1763G>A
c.902G>A (p.Gly301Asp)
c.1340G>A (p.Gly447Asp)
c.1253G>A (p.Gly418Asp)
c.1205G>A (p.Gly402Asp)
c.917G>A (p.Gly306Asp)
c.1352G>A (p.Gly451Asp)
c.1337G>A (p.Gly446Asp)
8g.71216785delCA2695209875EYA1c.1268del (p.Gly423ValfsTer9)
c.1166del (p.Gly389ValfsTer9)
c.1163del (p.Gly388ValfsTer9)
c.*547del (n.*547del)
c.658del
n.1731del
c.*945del (n.*945del)
c.1355del (p.Gly452ValfsTer9)
c.1250del (p.Gly417ValfsTer9)
n.338del
c.1247del (p.Gly416ValfsTer9)
c.1169del (p.Gly390ValfsTer9)
c.1265del (p.Gly422ValfsTer9)
c.*213del (n.*213del)
n.1763del
c.902del (p.Gly301ValfsTer9)
c.1340del (p.Gly447ValfsTer9)
c.1253del (p.Gly418ValfsTer9)
c.1205del (p.Gly402ValfsTer9)
c.917del (p.Gly306ValfsTer9)
c.1352del (p.Gly451ValfsTer9)
c.1337del (p.Gly446ValfsTer9)
8g.71216785C>ACA371466764EYA1c.1267G>T (p.Gly423Cys)
c.1165G>T (p.Gly389Cys)
c.1162G>T (p.Gly388Cys)
c.*546G>T (n.*546G>T)
c.657G>T
n.1730G>T
c.*944G>T (n.*944G>T)
c.1354G>T (p.Gly452Cys)
c.1249G>T (p.Gly417Cys)
n.337G>T
c.1246G>T (p.Gly416Cys)
c.1168G>T (p.Gly390Cys)
c.1264G>T (p.Gly422Cys)
c.*212G>T (n.*212G>T)
n.1762G>T
c.901G>T (p.Gly301Cys)
c.1339G>T (p.Gly447Cys)
c.1252G>T (p.Gly418Cys)
c.1204G>T (p.Gly402Cys)
c.916G>T (p.Gly306Cys)
c.1351G>T (p.Gly451Cys)
c.1336G>T (p.Gly446Cys)
8g.71216785C>GCA371466763EYA1c.1267G>C (p.Gly423Arg)
c.1165G>C (p.Gly389Arg)
c.1162G>C (p.Gly388Arg)
c.*546G>C (n.*546G>C)
c.657G>C
n.1730G>C
c.*944G>C (n.*944G>C)
c.1354G>C (p.Gly452Arg)
c.1249G>C (p.Gly417Arg)
n.337G>C
c.1246G>C (p.Gly416Arg)
c.1168G>C (p.Gly390Arg)
c.1264G>C (p.Gly422Arg)
c.*212G>C (n.*212G>C)
n.1762G>C
c.901G>C (p.Gly301Arg)
c.1339G>C (p.Gly447Arg)
c.1252G>C (p.Gly418Arg)
c.1204G>C (p.Gly402Arg)
c.916G>C (p.Gly306Arg)
c.1351G>C (p.Gly451Arg)
c.1336G>C (p.Gly446Arg)
8g.71216785C>TCA371466762EYA1c.1267G>A (p.Gly423Ser)
c.1165G>A (p.Gly389Ser)
c.1162G>A (p.Gly388Ser)
c.*546G>A (n.*546G>A)
c.657G>A
n.1730G>A
c.*944G>A (n.*944G>A)
c.1354G>A (p.Gly452Ser)
c.1249G>A (p.Gly417Ser)
n.337G>A
c.1246G>A (p.Gly416Ser)
c.1168G>A (p.Gly390Ser)
c.1264G>A (p.Gly422Ser)
c.*212G>A (n.*212G>A)
n.1762G>A
c.901G>A (p.Gly301Ser)
c.1339G>A (p.Gly447Ser)
c.1252G>A (p.Gly418Ser)
c.1204G>A (p.Gly402Ser)
c.916G>A (p.Gly306Ser)
c.1351G>A (p.Gly451Ser)
c.1336G>A (p.Gly446Ser)
8g.71216786A>CCA461434043EYA1c.1266T>G (p.Thr422=)
c.1164T>G (p.Thr388=)
c.1161T>G (p.Thr387=)
c.*545T>G (n.*545T>G)
c.656T>G
n.1729T>G
c.*943T>G (n.*943T>G)
c.1353T>G (p.Thr451=)
c.1248T>G (p.Thr416=)
n.336T>G
c.1245T>G (p.Thr415=)
c.1167T>G (p.Thr389=)
c.1263T>G (p.Thr421=)
c.*211T>G (n.*211T>G)
n.1761T>G
c.900T>G (p.Thr300=)
c.1338T>G (p.Thr446=)
c.1251T>G (p.Thr417=)
c.1203T>G (p.Thr401=)
c.915T>G (p.Thr305=)
c.1350T>G (p.Thr450=)
c.1335T>G (p.Thr445=)
8g.71216786A>GCA461434045EYA1c.1266T>C (p.Thr422=)
c.1164T>C (p.Thr388=)
c.1161T>C (p.Thr387=)
c.*545T>C (n.*545T>C)
c.656T>C
n.1729T>C
c.*943T>C (n.*943T>C)
c.1353T>C (p.Thr451=)
c.1248T>C (p.Thr416=)
n.336T>C
c.1245T>C (p.Thr415=)
c.1167T>C (p.Thr389=)
c.1263T>C (p.Thr421=)
c.*211T>C (n.*211T>C)
n.1761T>C
c.900T>C (p.Thr300=)
c.1338T>C (p.Thr446=)
c.1251T>C (p.Thr417=)
c.1203T>C (p.Thr401=)
c.915T>C (p.Thr305=)
c.1350T>C (p.Thr450=)
c.1335T>C (p.Thr445=)
8g.71216786A>TCA461434048EYA1c.1266T>A (p.Thr422=)
c.1164T>A (p.Thr388=)
c.1161T>A (p.Thr387=)
c.*545T>A (n.*545T>A)
c.656T>A
n.1729T>A
c.*943T>A (n.*943T>A)
c.1353T>A (p.Thr451=)
c.1248T>A (p.Thr416=)
n.336T>A
c.1245T>A (p.Thr415=)
c.1167T>A (p.Thr389=)
c.1263T>A (p.Thr421=)
c.*211T>A (n.*211T>A)
n.1761T>A
c.900T>A (p.Thr300=)
c.1338T>A (p.Thr446=)
c.1251T>A (p.Thr417=)
c.1203T>A (p.Thr401=)
c.915T>A (p.Thr305=)
c.1350T>A (p.Thr450=)
c.1335T>A (p.Thr445=)
8g.71216787G>ACA371466765EYA1c.1265C>T (p.Thr422Ile)
c.1163C>T (p.Thr388Ile)
c.1160C>T (p.Thr387Ile)
c.*544C>T (n.*544C>T)
c.655C>T
n.1728C>T
c.*942C>T (n.*942C>T)
c.1352C>T (p.Thr451Ile)
c.1247C>T (p.Thr416Ile)
n.335C>T
c.1244C>T (p.Thr415Ile)
c.1166C>T (p.Thr389Ile)
c.1262C>T (p.Thr421Ile)
c.*210C>T (n.*210C>T)
n.1760C>T
c.899C>T (p.Thr300Ile)
c.1337C>T (p.Thr446Ile)
c.1250C>T (p.Thr417Ile)
c.1202C>T (p.Thr401Ile)
c.914C>T (p.Thr305Ile)
c.1349C>T (p.Thr450Ile)
c.1334C>T (p.Thr445Ile)
8g.71216787G>CCA371466767EYA1c.1265C>G (p.Thr422Ser)
c.1163C>G (p.Thr388Ser)
c.1160C>G (p.Thr387Ser)
c.*544C>G (n.*544C>G)
c.655C>G
n.1728C>G
c.*942C>G (n.*942C>G)
c.1352C>G (p.Thr451Ser)
c.1247C>G (p.Thr416Ser)
n.335C>G
c.1244C>G (p.Thr415Ser)
c.1166C>G (p.Thr389Ser)
c.1262C>G (p.Thr421Ser)
c.*210C>G (n.*210C>G)
n.1760C>G
c.899C>G (p.Thr300Ser)
c.1337C>G (p.Thr446Ser)
c.1250C>G (p.Thr417Ser)
c.1202C>G (p.Thr401Ser)
c.914C>G (p.Thr305Ser)
c.1349C>G (p.Thr450Ser)
c.1334C>G (p.Thr445Ser)
8g.71216787G>TCA371466766EYA1c.1265C>A (p.Thr422Asn)
c.1163C>A (p.Thr388Asn)
c.1160C>A (p.Thr387Asn)
c.*544C>A (n.*544C>A)
c.655C>A
n.1728C>A
c.*942C>A (n.*942C>A)
c.1352C>A (p.Thr451Asn)
c.1247C>A (p.Thr416Asn)
n.335C>A
c.1244C>A (p.Thr415Asn)
c.1166C>A (p.Thr389Asn)
c.1262C>A (p.Thr421Asn)
c.*210C>A (n.*210C>A)
n.1760C>A
c.899C>A (p.Thr300Asn)
c.1337C>A (p.Thr446Asn)
c.1250C>A (p.Thr417Asn)
c.1202C>A (p.Thr401Asn)
c.914C>A (p.Thr305Asn)
c.1349C>A (p.Thr450Asn)
c.1334C>A (p.Thr445Asn)
8g.71216788T>ACA4779512EYA1c.1264A>T (p.Thr422Ser)
c.1162A>T (p.Thr388Ser)
c.1159A>T (p.Thr387Ser)
c.*543A>T (n.*543A>T)
c.654A>T
n.1727A>T
c.*941A>T (n.*941A>T)
c.1351A>T (p.Thr451Ser)
c.1246A>T (p.Thr416Ser)
n.334A>T
c.1243A>T (p.Thr415Ser)
c.1165A>T (p.Thr389Ser)
c.1261A>T (p.Thr421Ser)
c.*209A>T (n.*209A>T)
n.1759A>T
c.898A>T (p.Thr300Ser)
c.1336A>T (p.Thr446Ser)
c.1249A>T (p.Thr417Ser)
c.1201A>T (p.Thr401Ser)
c.913A>T (p.Thr305Ser)
c.1348A>T (p.Thr450Ser)
c.1333A>T (p.Thr445Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.71216788T>CCA371466768EYA1c.1264A>G (p.Thr422Ala)
c.1162A>G (p.Thr388Ala)
c.1159A>G (p.Thr387Ala)
c.*543A>G (n.*543A>G)
c.654A>G
n.1727A>G
c.*941A>G (n.*941A>G)
c.1351A>G (p.Thr451Ala)
c.1246A>G (p.Thr416Ala)
n.334A>G
c.1243A>G (p.Thr415Ala)
c.1165A>G (p.Thr389Ala)
c.1261A>G (p.Thr421Ala)
c.*209A>G (n.*209A>G)
n.1759A>G
c.898A>G (p.Thr300Ala)
c.1336A>G (p.Thr446Ala)
c.1249A>G (p.Thr417Ala)
c.1201A>G (p.Thr401Ala)
c.913A>G (p.Thr305Ala)
c.1348A>G (p.Thr450Ala)
c.1333A>G (p.Thr445Ala)
 dbSNP gnomAD v4
8g.71216788T>GCA4779513EYA1c.1264A>C (p.Thr422Pro)
c.1162A>C (p.Thr388Pro)
c.1159A>C (p.Thr387Pro)
c.*543A>C (n.*543A>C)
c.654A>C
n.1727A>C
c.*941A>C (n.*941A>C)
c.1351A>C (p.Thr451Pro)
c.1246A>C (p.Thr416Pro)
n.334A>C
c.1243A>C (p.Thr415Pro)
c.1165A>C (p.Thr389Pro)
c.1261A>C (p.Thr421Pro)
c.*209A>C (n.*209A>C)
n.1759A>C
c.898A>C (p.Thr300Pro)
c.1336A>C (p.Thr446Pro)
c.1249A>C (p.Thr417Pro)
c.1201A>C (p.Thr401Pro)
c.913A>C (p.Thr305Pro)
c.1348A>C (p.Thr450Pro)
c.1333A>C (p.Thr445Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.71216788T=CA1792692873EYA1c.1264A= (p.Thr422=)
c.1162A= (p.Thr388=)
c.1159A= (p.Thr387=)
c.*543A= (n.*543A=)
c.654A=
n.1727A=
c.*941A= (n.*941A=)
c.1351A= (p.Thr451=)
c.1246A= (p.Thr416=)
n.334A=
c.1243A= (p.Thr415=)
c.1165A= (p.Thr389=)
c.1261A= (p.Thr421=)
c.*209A= (n.*209A=)
n.1759A=
c.898A= (p.Thr300=)
c.1336A= (p.Thr446=)
c.1249A= (p.Thr417=)
c.1201A= (p.Thr401=)
c.913A= (p.Thr305=)
c.1348A= (p.Thr450=)
c.1333A= (p.Thr445=)
8g.71216789T>ACA461434053EYA1c.1263A>T (p.Ala421=)
c.1161A>T (p.Ala387=)
c.1158A>T (p.Ala386=)
c.*542A>T (n.*542A>T)
c.653A>T
n.1726A>T
c.*940A>T (n.*940A>T)
c.1350A>T (p.Ala450=)
c.1245A>T (p.Ala415=)
n.333A>T
c.1242A>T (p.Ala414=)
c.1164A>T (p.Ala388=)
c.1260A>T (p.Ala420=)
c.*208A>T (n.*208A>T)
n.1758A>T
c.897A>T (p.Ala299=)
c.1335A>T (p.Ala445=)
c.1248A>T (p.Ala416=)
c.1200A>T (p.Ala400=)
c.912A>T (p.Ala304=)
c.1347A>T (p.Ala449=)
c.1332A>T (p.Ala444=)
8g.71216789T>CCA461434054EYA1c.1263A>G (p.Ala421=)
c.1161A>G (p.Ala387=)
c.1158A>G (p.Ala386=)
c.*542A>G (n.*542A>G)
c.653A>G
n.1726A>G
c.*940A>G (n.*940A>G)
c.1350A>G (p.Ala450=)
c.1245A>G (p.Ala415=)
n.333A>G
c.1242A>G (p.Ala414=)
c.1164A>G (p.Ala388=)
c.1260A>G (p.Ala420=)
c.*208A>G (n.*208A>G)
n.1758A>G
c.897A>G (p.Ala299=)
c.1335A>G (p.Ala445=)
c.1248A>G (p.Ala416=)
c.1200A>G (p.Ala400=)
c.912A>G (p.Ala304=)
c.1347A>G (p.Ala449=)
c.1332A>G (p.Ala444=)
8g.71216789T>GCA461434055EYA1c.1263A>C (p.Ala421=)
c.1161A>C (p.Ala387=)
c.1158A>C (p.Ala386=)
c.*542A>C (n.*542A>C)
c.653A>C
n.1726A>C
c.*940A>C (n.*940A>C)
c.1350A>C (p.Ala450=)
c.1245A>C (p.Ala415=)
n.333A>C
c.1242A>C (p.Ala414=)
c.1164A>C (p.Ala388=)
c.1260A>C (p.Ala420=)
c.*208A>C (n.*208A>C)
n.1758A>C
c.897A>C (p.Ala299=)
c.1335A>C (p.Ala445=)
c.1248A>C (p.Ala416=)
c.1200A>C (p.Ala400=)
c.912A>C (p.Ala304=)
c.1347A>C (p.Ala449=)
c.1332A>C (p.Ala444=)
8g.71216790G>ACA371466769EYA1c.1262C>T (p.Ala421Val)
c.1160C>T (p.Ala387Val)
c.1157C>T (p.Ala386Val)
c.*541C>T (n.*541C>T)
c.652C>T
n.1725C>T
c.*939C>T (n.*939C>T)
c.1349C>T (p.Ala450Val)
c.1244C>T (p.Ala415Val)
n.332C>T
c.1241C>T (p.Ala414Val)
c.1163C>T (p.Ala388Val)
c.1259C>T (p.Ala420Val)
c.*207C>T (n.*207C>T)
n.1757C>T
c.896C>T (p.Ala299Val)
c.1334C>T (p.Ala445Val)
c.1247C>T (p.Ala416Val)
c.1199C>T (p.Ala400Val)
c.911C>T (p.Ala304Val)
c.1346C>T (p.Ala449Val)
c.1331C>T (p.Ala444Val)
8g.71216790G>CCA371466770EYA1c.1262C>G (p.Ala421Gly)
c.1160C>G (p.Ala387Gly)
c.1157C>G (p.Ala386Gly)
c.*541C>G (n.*541C>G)
c.652C>G
n.1725C>G
c.*939C>G (n.*939C>G)
c.1349C>G (p.Ala450Gly)
c.1244C>G (p.Ala415Gly)
n.332C>G
c.1241C>G (p.Ala414Gly)
c.1163C>G (p.Ala388Gly)
c.1259C>G (p.Ala420Gly)
c.*207C>G (n.*207C>G)
n.1757C>G
c.896C>G (p.Ala299Gly)
c.1334C>G (p.Ala445Gly)
c.1247C>G (p.Ala416Gly)
c.1199C>G (p.Ala400Gly)
c.911C>G (p.Ala304Gly)
c.1346C>G (p.Ala449Gly)
c.1331C>G (p.Ala444Gly)
8g.71216790G>TCA371466771EYA1c.1262C>A (p.Ala421Glu)
c.1160C>A (p.Ala387Glu)
c.1157C>A (p.Ala386Glu)
c.*541C>A (n.*541C>A)
c.652C>A
n.1725C>A
c.*939C>A (n.*939C>A)
c.1349C>A (p.Ala450Glu)
c.1244C>A (p.Ala415Glu)
n.332C>A
c.1241C>A (p.Ala414Glu)
c.1163C>A (p.Ala388Glu)
c.1259C>A (p.Ala420Glu)
c.*207C>A (n.*207C>A)
n.1757C>A
c.896C>A (p.Ala299Glu)
c.1334C>A (p.Ala445Glu)
c.1247C>A (p.Ala416Glu)
c.1199C>A (p.Ala400Glu)
c.911C>A (p.Ala304Glu)
c.1346C>A (p.Ala449Glu)
c.1331C>A (p.Ala444Glu)
8g.71216791C>ACA371466772EYA1c.1261G>T (p.Ala421Ser)
c.1159G>T (p.Ala387Ser)
c.1156G>T (p.Ala386Ser)
c.*540G>T (n.*540G>T)
c.651G>T
n.1724G>T
c.*938G>T (n.*938G>T)
c.1348G>T (p.Ala450Ser)
c.1243G>T (p.Ala415Ser)
n.331G>T
c.1240G>T (p.Ala414Ser)
c.1162G>T (p.Ala388Ser)
c.1258G>T (p.Ala420Ser)
c.*206G>T (n.*206G>T)
n.1756G>T
c.895G>T (p.Ala299Ser)
c.1333G>T (p.Ala445Ser)
c.1246G>T (p.Ala416Ser)
c.1198G>T (p.Ala400Ser)
c.910G>T (p.Ala304Ser)
c.1345G>T (p.Ala449Ser)
c.1330G>T (p.Ala444Ser)
8g.71216791C>GCA371466773EYA1c.1261G>C (p.Ala421Pro)
c.1159G>C (p.Ala387Pro)
c.1156G>C (p.Ala386Pro)
c.*540G>C (n.*540G>C)
c.651G>C
n.1724G>C
c.*938G>C (n.*938G>C)
c.1348G>C (p.Ala450Pro)
c.1243G>C (p.Ala415Pro)
n.331G>C
c.1240G>C (p.Ala414Pro)
c.1162G>C (p.Ala388Pro)
c.1258G>C (p.Ala420Pro)
c.*206G>C (n.*206G>C)
n.1756G>C
c.895G>C (p.Ala299Pro)
c.1333G>C (p.Ala445Pro)
c.1246G>C (p.Ala416Pro)
c.1198G>C (p.Ala400Pro)
c.910G>C (p.Ala304Pro)
c.1345G>C (p.Ala449Pro)
c.1330G>C (p.Ala444Pro)
8g.71216791C>TCA371466774EYA1c.1261G>A (p.Ala421Thr)
c.1159G>A (p.Ala387Thr)
c.1156G>A (p.Ala386Thr)
c.*540G>A (n.*540G>A)
c.651G>A
n.1724G>A
c.*938G>A (n.*938G>A)
c.1348G>A (p.Ala450Thr)
c.1243G>A (p.Ala415Thr)
n.331G>A
c.1240G>A (p.Ala414Thr)
c.1162G>A (p.Ala388Thr)
c.1258G>A (p.Ala420Thr)
c.*206G>A (n.*206G>A)
n.1756G>A
c.895G>A (p.Ala299Thr)
c.1333G>A (p.Ala445Thr)
c.1246G>A (p.Ala416Thr)
c.1198G>A (p.Ala400Thr)
c.910G>A (p.Ala304Thr)
c.1345G>A (p.Ala449Thr)
c.1330G>A (p.Ala444Thr)
8g.71216792C>ACA371466775EYA1c.1260G>T (p.Leu420Phe)
c.1158G>T (p.Leu386Phe)
c.1155G>T (p.Leu385Phe)
c.*539G>T (n.*539G>T)
c.650G>T
n.1723G>T
c.*937G>T (n.*937G>T)
c.1347G>T (p.Leu449Phe)
c.1242G>T (p.Leu414Phe)
n.330G>T
c.1239G>T (p.Leu413Phe)
c.1161G>T (p.Leu387Phe)
c.1257G>T (p.Leu419Phe)
c.*205G>T (n.*205G>T)
n.1755G>T
c.894G>T (p.Leu298Phe)
c.1332G>T (p.Leu444Phe)
c.1245G>T (p.Leu415Phe)
c.1197G>T (p.Leu399Phe)
c.909G>T (p.Leu303Phe)
c.1344G>T (p.Leu448Phe)
c.1329G>T (p.Leu443Phe)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.71216792C=CA1792692877EYA1c.1260G= (p.Leu420=)
c.1158G= (p.Leu386=)
c.1155G= (p.Leu385=)
c.*539G= (n.*539G=)
c.650G=
n.1723G=
c.*937G= (n.*937G=)
c.1347G= (p.Leu449=)
c.1242G= (p.Leu414=)
n.330G=
c.1239G= (p.Leu413=)
c.1161G= (p.Leu387=)
c.1257G= (p.Leu419=)
c.*205G= (n.*205G=)
n.1755G=
c.894G= (p.Leu298=)
c.1332G= (p.Leu444=)
c.1245G= (p.Leu415=)
c.1197G= (p.Leu399=)
c.909G= (p.Leu303=)
c.1344G= (p.Leu448=)
c.1329G= (p.Leu443=)
8g.71216792C>GCA4779514EYA1c.1260G>C (p.Leu420Phe)
c.1158G>C (p.Leu386Phe)
c.1155G>C (p.Leu385Phe)
c.*539G>C (n.*539G>C)
c.650G>C
n.1723G>C
c.*937G>C (n.*937G>C)
c.1347G>C (p.Leu449Phe)
c.1242G>C (p.Leu414Phe)
n.330G>C
c.1239G>C (p.Leu413Phe)
c.1161G>C (p.Leu387Phe)
c.1257G>C (p.Leu419Phe)
c.*205G>C (n.*205G>C)
n.1755G>C
c.894G>C (p.Leu298Phe)
c.1332G>C (p.Leu444Phe)
c.1245G>C (p.Leu415Phe)
c.1197G>C (p.Leu399Phe)
c.909G>C (p.Leu303Phe)
c.1344G>C (p.Leu448Phe)
c.1329G>C (p.Leu443Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.71216792C>TCA461434061EYA1c.1260G>A (p.Leu420=)
c.1158G>A (p.Leu386=)
c.1155G>A (p.Leu385=)
c.*539G>A (n.*539G>A)
c.650G>A
n.1723G>A
c.*937G>A (n.*937G>A)
c.1347G>A (p.Leu449=)
c.1242G>A (p.Leu414=)
n.330G>A
c.1239G>A (p.Leu413=)
c.1161G>A (p.Leu387=)
c.1257G>A (p.Leu419=)
c.*205G>A (n.*205G>A)
n.1755G>A
c.894G>A (p.Leu298=)
c.1332G>A (p.Leu444=)
c.1245G>A (p.Leu415=)
c.1197G>A (p.Leu399=)
c.909G>A (p.Leu303=)
c.1344G>A (p.Leu448=)
c.1329G>A (p.Leu443=)
 gnomAD v4
8g.71216792_71216793delinsCACA1792692878EYA1c.1259_1260delinsTG (p.Leu420=)
c.1157_1158delinsTG (p.Leu386=)
c.1154_1155delinsTG (p.Leu385=)
c.*538_*539delinsTG (n.*538_*539delinsTG)
c.649_650delinsTG
n.1722_1723delinsTG
c.*936_*937delinsTG (n.*936_*937delinsTG)
c.1346_1347delinsTG (p.Leu449=)
c.1241_1242delinsTG (p.Leu414=)
n.329_330delinsTG
c.1238_1239delinsTG (p.Leu413=)
c.1160_1161delinsTG (p.Leu387=)
c.1256_1257delinsTG (p.Leu419=)
c.*204_*205delinsTG (n.*204_*205delinsTG)
n.1754_1755delinsTG
c.893_894delinsTG (p.Leu298=)
c.1331_1332delinsTG (p.Leu444=)
c.1244_1245delinsTG (p.Leu415=)
c.1196_1197delinsTG (p.Leu399=)
c.908_909delinsTG (p.Leu303=)
c.1343_1344delinsTG (p.Leu448=)
c.1328_1329delinsTG (p.Leu443=)
8g.71216793A>CCA371466776EYA1c.1259T>G (p.Leu420Trp)
c.1157T>G (p.Leu386Trp)
c.1154T>G (p.Leu385Trp)
c.*538T>G (n.*538T>G)
c.649T>G
n.1722T>G
c.*936T>G (n.*936T>G)
c.1346T>G (p.Leu449Trp)
c.1241T>G (p.Leu414Trp)
n.329T>G
c.1238T>G (p.Leu413Trp)
c.1160T>G (p.Leu387Trp)
c.1256T>G (p.Leu419Trp)
c.*204T>G (n.*204T>G)
n.1754T>G
c.893T>G (p.Leu298Trp)
c.1331T>G (p.Leu444Trp)
c.1244T>G (p.Leu415Trp)
c.1196T>G (p.Leu399Trp)
c.908T>G (p.Leu303Trp)
c.1343T>G (p.Leu448Trp)
c.1328T>G (p.Leu443Trp)
8g.71216793A>GCA371466777EYA1c.1259T>C (p.Leu420Ser)
c.1157T>C (p.Leu386Ser)
c.1154T>C (p.Leu385Ser)
c.*538T>C (n.*538T>C)
c.649T>C
n.1722T>C
c.*936T>C (n.*936T>C)
c.1346T>C (p.Leu449Ser)
c.1241T>C (p.Leu414Ser)
n.329T>C
c.1238T>C (p.Leu413Ser)
c.1160T>C (p.Leu387Ser)
c.1256T>C (p.Leu419Ser)
c.*204T>C (n.*204T>C)
n.1754T>C
c.893T>C (p.Leu298Ser)
c.1331T>C (p.Leu444Ser)
c.1244T>C (p.Leu415Ser)
c.1196T>C (p.Leu399Ser)
c.908T>C (p.Leu303Ser)
c.1343T>C (p.Leu448Ser)
c.1328T>C (p.Leu443Ser)
8g.71216793A>TCA371466778EYA1c.1259T>A (p.Leu420Ter)
c.1157T>A (p.Leu386Ter)
c.1154T>A (p.Leu385Ter)
c.*538T>A (n.*538T>A)
c.649T>A
n.1722T>A
c.*936T>A (n.*936T>A)
c.1346T>A (p.Leu449Ter)
c.1241T>A (p.Leu414Ter)
n.329T>A
c.1238T>A (p.Leu413Ter)
c.1160T>A (p.Leu387Ter)
c.1256T>A (p.Leu419Ter)
c.*204T>A (n.*204T>A)
n.1754T>A
c.893T>A (p.Leu298Ter)
c.1331T>A (p.Leu444Ter)
c.1244T>A (p.Leu415Ter)
c.1196T>A (p.Leu399Ter)
c.908T>A (p.Leu303Ter)
c.1343T>A (p.Leu448Ter)
c.1328T>A (p.Leu443Ter)
8g.71216795delCA1139660596EYA1c.1259del (p.Leu420TrpfsTer12)
c.1157del (p.Leu386TrpfsTer12)
c.1154del (p.Leu385TrpfsTer12)
c.*538del (n.*538del)
c.649del
n.1722del
c.*936del (n.*936del)
c.1346del (p.Leu449TrpfsTer12)
c.1241del (p.Leu414TrpfsTer12)
n.329del
c.1238del (p.Leu413TrpfsTer12)
c.1160del (p.Leu387TrpfsTer12)
c.1256del (p.Leu419TrpfsTer12)
c.*204del (n.*204del)
n.1754del
c.893del (p.Leu298TrpfsTer12)
c.1331del (p.Leu444TrpfsTer12)
c.1244del (p.Leu415TrpfsTer12)
c.1196del (p.Leu399TrpfsTer12)
c.908del (p.Leu303TrpfsTer12)
c.1343del (p.Leu448TrpfsTer12)
c.1328del (p.Leu443TrpfsTer12)
 ClinVar dbSNP
8g.71216794A=CA1792692891EYA1c.1258T= (p.Leu420=)
c.1156T= (p.Leu386=)
c.1153T= (p.Leu385=)
c.*537T= (n.*537T=)
c.648T=
n.1721T=
c.*935T= (n.*935T=)
c.1345T= (p.Leu449=)
c.1240T= (p.Leu414=)
n.328T=
c.1237T= (p.Leu413=)
c.1159T= (p.Leu387=)
c.1255T= (p.Leu419=)
c.*203T= (n.*203T=)
n.1753T=
c.892T= (p.Leu298=)
c.1330T= (p.Leu444=)
c.1243T= (p.Leu415=)
c.1195T= (p.Leu399=)
c.907T= (p.Leu303=)
c.1342T= (p.Leu448=)
c.1327T= (p.Leu443=)
8g.71216794A>CCA371466780EYA1c.1258T>G (p.Leu420Val)
c.1156T>G (p.Leu386Val)
c.1153T>G (p.Leu385Val)
c.*537T>G (n.*537T>G)
c.648T>G
n.1721T>G
c.*935T>G (n.*935T>G)
c.1345T>G (p.Leu449Val)
c.1240T>G (p.Leu414Val)
n.328T>G
c.1237T>G (p.Leu413Val)
c.1159T>G (p.Leu387Val)
c.1255T>G (p.Leu419Val)
c.*203T>G (n.*203T>G)
n.1753T>G
c.892T>G (p.Leu298Val)
c.1330T>G (p.Leu444Val)
c.1243T>G (p.Leu415Val)
c.1195T>G (p.Leu399Val)
c.907T>G (p.Leu303Val)
c.1342T>G (p.Leu448Val)
c.1327T>G (p.Leu443Val)
8g.71216794A>GCA4779515EYA1c.1258T>C (p.Leu420=)
c.1156T>C (p.Leu386=)
c.1153T>C (p.Leu385=)
c.*537T>C (n.*537T>C)
c.648T>C
n.1721T>C
c.*935T>C (n.*935T>C)
c.1345T>C (p.Leu449=)
c.1240T>C (p.Leu414=)
n.328T>C
c.1237T>C (p.Leu413=)
c.1159T>C (p.Leu387=)
c.1255T>C (p.Leu419=)
c.*203T>C (n.*203T>C)
n.1753T>C
c.892T>C (p.Leu298=)
c.1330T>C (p.Leu444=)
c.1243T>C (p.Leu415=)
c.1195T>C (p.Leu399=)
c.907T>C (p.Leu303=)
c.1342T>C (p.Leu448=)
c.1327T>C (p.Leu443=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.71216794A>TCA371466779EYA1c.1258T>A (p.Leu420Met)
c.1156T>A (p.Leu386Met)
c.1153T>A (p.Leu385Met)
c.*537T>A (n.*537T>A)
c.648T>A
n.1721T>A
c.*935T>A (n.*935T>A)
c.1345T>A (p.Leu449Met)
c.1240T>A (p.Leu414Met)
n.328T>A
c.1237T>A (p.Leu413Met)
c.1159T>A (p.Leu387Met)
c.1255T>A (p.Leu419Met)
c.*203T>A (n.*203T>A)
n.1753T>A
c.892T>A (p.Leu298Met)
c.1330T>A (p.Leu444Met)
c.1243T>A (p.Leu415Met)
c.1195T>A (p.Leu399Met)
c.907T>A (p.Leu303Met)
c.1342T>A (p.Leu448Met)
c.1327T>A (p.Leu443Met)
 gnomAD v4
8g.71216795A>CCA371466781EYA1c.1257T>G (p.Cys419Trp)
c.1155T>G (p.Cys385Trp)
c.1152T>G (p.Cys384Trp)
c.*536T>G (n.*536T>G)
c.647T>G
n.1720T>G
c.*934T>G (n.*934T>G)
c.1344T>G (p.Cys448Trp)
c.1239T>G (p.Cys413Trp)
n.327T>G
c.1236T>G (p.Cys412Trp)
c.1158T>G (p.Cys386Trp)
c.1254T>G (p.Cys418Trp)
c.*202T>G (n.*202T>G)
n.1752T>G
c.891T>G (p.Cys297Trp)
c.1329T>G (p.Cys443Trp)
c.1242T>G (p.Cys414Trp)
c.1194T>G (p.Cys398Trp)
c.906T>G (p.Cys302Trp)
c.1341T>G (p.Cys447Trp)
c.1326T>G (p.Cys442Trp)
8g.71216795A>GCA461434063EYA1c.1257T>C (p.Cys419=)
c.1155T>C (p.Cys385=)
c.1152T>C (p.Cys384=)
c.*536T>C (n.*536T>C)
c.647T>C
n.1720T>C
c.*934T>C (n.*934T>C)
c.1344T>C (p.Cys448=)
c.1239T>C (p.Cys413=)
n.327T>C
c.1236T>C (p.Cys412=)
c.1158T>C (p.Cys386=)
c.1254T>C (p.Cys418=)
c.*202T>C (n.*202T>C)
n.1752T>C
c.891T>C (p.Cys297=)
c.1329T>C (p.Cys443=)
c.1242T>C (p.Cys414=)
c.1194T>C (p.Cys398=)
c.906T>C (p.Cys302=)
c.1341T>C (p.Cys447=)
c.1326T>C (p.Cys442=)
8g.71216795A>TCA371466782EYA1c.1257T>A (p.Cys419Ter)
c.1155T>A (p.Cys385Ter)
c.1152T>A (p.Cys384Ter)
c.*536T>A (n.*536T>A)
c.647T>A
n.1720T>A
c.*934T>A (n.*934T>A)
c.1344T>A (p.Cys448Ter)
c.1239T>A (p.Cys413Ter)
n.327T>A
c.1236T>A (p.Cys412Ter)
c.1158T>A (p.Cys386Ter)
c.1254T>A (p.Cys418Ter)
c.*202T>A (n.*202T>A)
n.1752T>A
c.891T>A (p.Cys297Ter)
c.1329T>A (p.Cys443Ter)
c.1242T>A (p.Cys414Ter)
c.1194T>A (p.Cys398Ter)
c.906T>A (p.Cys302Ter)
c.1341T>A (p.Cys447Ter)
c.1326T>A (p.Cys442Ter)

Number of alleles fetched