Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.125317792C>ACA358117775FAT4c.1381C>A (p.Leu461Met)
c.-55+1815C>A (n.-55+1815C>A)
4g.125317792C=CA1491600791FAT4c.1381C= (p.Leu461=)
c.-55+1815C= (n.-55+1815C=)
4g.125317792C>GCA3071981FAT4c.1381C>G (p.Leu461Val)
c.-55+1815C>G (n.-55+1815C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125317792C>TCA441366556FAT4c.1381C>T (p.Leu461=)
c.-55+1815C>T (n.-55+1815C>T)
 dbSNP gnomAD v4
4g.125317793T>ACA358117777FAT4c.1382T>A (p.Leu461Gln)
c.-55+1816T>A (n.-55+1816T>A)
4g.125317793T>CCA358117778FAT4c.1382T>C (p.Leu461Pro)
c.-55+1816T>C (n.-55+1816T>C)
4g.125317793T>GCA358117776FAT4c.1382T>G (p.Leu461Arg)
c.-55+1816T>G (n.-55+1816T>G)
4g.125317794G>ACA441366559FAT4c.1383G>A (p.Leu461=)
c.-55+1817G>A (n.-55+1817G>A)
4g.125317794G>CCA441366560FAT4c.1383G>C (p.Leu461=)
c.-55+1817G>C (n.-55+1817G>C)
4g.125317794G>TCA441366561FAT4c.1383G>T (p.Leu461=)
c.-55+1817G>T (n.-55+1817G>T)
4g.125317795G>ACA358117781FAT4c.1384G>A (p.Val462Met)
c.-55+1818G>A (n.-55+1818G>A)
4g.125317795G>CCA358117779FAT4c.1384G>C (p.Val462Leu)
c.-55+1818G>C (n.-55+1818G>C)
4g.125317795G>TCA358117780FAT4c.1384G>T (p.Val462Leu)
c.-55+1818G>T (n.-55+1818G>T)
4g.125317796T>ACA358117782FAT4c.1385T>A (p.Val462Glu)
c.-55+1819T>A (n.-55+1819T>A)
4g.125317796T>CCA358117783FAT4c.1385T>C (p.Val462Ala)
c.-55+1819T>C (n.-55+1819T>C)
4g.125317796T>GCA358117784FAT4c.1385T>G (p.Val462Gly)
c.-55+1819T>G (n.-55+1819T>G)
4g.125317797G>ACA3071982FAT4c.1386G>A (p.Val462=)
c.-55+1820G>A (n.-55+1820G>A)
 dbSNP ExAC gnomAD v2
4g.125317797G>CCA441366569FAT4c.1386G>C (p.Val462=)
c.-55+1820G>C (n.-55+1820G>C)
4g.125317797G=CA1491600798FAT4c.1386G= (p.Val462=)
c.-55+1820G= (n.-55+1820G=)
4g.125317797G>TCA441366571FAT4c.1386G>T (p.Val462=)
c.-55+1820G>T (n.-55+1820G>T)
4g.125317798A>CCA358117787FAT4c.1387A>C (p.Ile463Leu)
c.-55+1821A>C (n.-55+1821A>C)
 gnomAD v4
4g.125317798A>GCA358117785FAT4c.1387A>G (p.Ile463Val)
c.-55+1821A>G (n.-55+1821A>G)
4g.125317798A>TCA358117786FAT4c.1387A>T (p.Ile463Phe)
c.-55+1821A>T (n.-55+1821A>T)
4g.125317799T>ACA358117788FAT4c.1388T>A (p.Ile463Asn)
c.-55+1822T>A (n.-55+1822T>A)
4g.125317799T>CCA358117789FAT4c.1388T>C (p.Ile463Thr)
c.-55+1822T>C (n.-55+1822T>C)
4g.125317799T>GCA358117790FAT4c.1388T>G (p.Ile463Ser)
c.-55+1822T>G (n.-55+1822T>G)
4g.125317803dupCA2672009309FAT4c.1392dup (p.Val465CysfsTer2)
c.-55+1826dup (n.-55+1826dup)
 gnomAD v4
4g.125317802_125317803delCA2672009310FAT4c.1391_1392del (p.Phe464CysfsTer2)
c.-55+1825_-55+1826del (n.-55+1825_-55+1826del)
 gnomAD v4
4g.125317800T>ACA104864038FAT4c.1389T>A (p.Ile463=)
c.-55+1823T>A (n.-55+1823T>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.125317800T>CCA441366575FAT4c.1389T>C (p.Ile463=)
c.-55+1823T>C (n.-55+1823T>C)
4g.125317800T>GCA358117791FAT4c.1389T>G (p.Ile463Met)
c.-55+1823T>G (n.-55+1823T>G)
4g.125317800T=CA1491600801FAT4c.1389T= (p.Ile463=)
c.-55+1823T= (n.-55+1823T=)
4g.125317801T>ACA358117792FAT4c.1390T>A (p.Phe464Ile)
c.-55+1824T>A (n.-55+1824T>A)
4g.125317801T>CCA358117794FAT4c.1390T>C (p.Phe464Leu)
c.-55+1824T>C (n.-55+1824T>C)
4g.125317801T>GCA358117793FAT4c.1390T>G (p.Phe464Val)
c.-55+1824T>G (n.-55+1824T>G)
4g.125317802T>ACA358117795FAT4c.1391T>A (p.Phe464Tyr)
c.-55+1825T>A (n.-55+1825T>A)
4g.125317802T>CCA358117796FAT4c.1391T>C (p.Phe464Ser)
c.-55+1825T>C (n.-55+1825T>C)
4g.125317802T>GCA358117797FAT4c.1391T>G (p.Phe464Cys)
c.-55+1825T>G (n.-55+1825T>G)
4g.125317803T>ACA3071983FAT4c.1392T>A (p.Phe464Leu)
c.-55+1826T>A (n.-55+1826T>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.125317803T>CCA441366580FAT4c.1392T>C (p.Phe464=)
c.-55+1826T>C (n.-55+1826T>C)
4g.125317803T>GCA358117798FAT4c.1392T>G (p.Phe464Leu)
c.-55+1826T>G (n.-55+1826T>G)
4g.125317803T=CA1491600806FAT4c.1392T= (p.Phe464=)
c.-55+1826T= (n.-55+1826T=)
4g.125317804G>ACA358117799FAT4c.1393G>A (p.Val465Ile)
c.-55+1827G>A (n.-55+1827G>A)
4g.125317804G>CCA358117800FAT4c.1393G>C (p.Val465Leu)
c.-55+1827G>C (n.-55+1827G>C)
4g.125317804G>TCA358117801FAT4c.1393G>T (p.Val465Phe)
c.-55+1827G>T (n.-55+1827G>T)
 gnomAD v4
4g.125317805T>ACA358117802FAT4c.1394T>A (p.Val465Asp)
c.-55+1828T>A (n.-55+1828T>A)
4g.125317805T>CCA358117803FAT4c.1394T>C (p.Val465Ala)
c.-55+1828T>C (n.-55+1828T>C)
 dbSNP gnomAD v4
4g.125317805T>GCA358117804FAT4c.1394T>G (p.Val465Gly)
c.-55+1828T>G (n.-55+1828T>G)
4g.125317805T=CA1491600809FAT4c.1394T= (p.Val465=)
c.-55+1828T= (n.-55+1828T=)
4g.125317806T>ACA441366588FAT4c.1395T>A (p.Val465=)
c.-55+1829T>A (n.-55+1829T>A)
4g.125317806T>CCA441366586FAT4c.1395T>C (p.Val465=)
c.-55+1829T>C (n.-55+1829T>C)
4g.125317806T>GCA441366585FAT4c.1395T>G (p.Val465=)
c.-55+1829T>G (n.-55+1829T>G)
4g.125317807A>CCA358117807FAT4c.1396A>C (p.Asn466His)
c.-55+1830A>C (n.-55+1830A>C)
4g.125317807A>GCA358117806FAT4c.1396A>G (p.Asn466Asp)
c.-55+1830A>G (n.-55+1830A>G)
 ClinVar
4g.125317807A>TCA358117805FAT4c.1396A>T (p.Asn466Tyr)
c.-55+1830A>T (n.-55+1830A>T)
4g.125317808A>CCA358117808FAT4c.1397A>C (p.Asn466Thr)
c.-55+1831A>C (n.-55+1831A>C)
4g.125317808A>GCA358117809FAT4c.1397A>G (p.Asn466Ser)
c.-55+1831A>G (n.-55+1831A>G)
4g.125317808A>TCA358117810FAT4c.1397A>T (p.Asn466Ile)
c.-55+1831A>T (n.-55+1831A>T)
4g.125317809T>ACA358117811FAT4c.1398T>A (p.Asn466Lys)
c.-55+1832T>A (n.-55+1832T>A)
4g.125317809T>CCA441366598FAT4c.1398T>C (p.Asn466=)
c.-55+1832T>C (n.-55+1832T>C)
4g.125317809T>GCA358117812FAT4c.1398T>G (p.Asn466Lys)
c.-55+1832T>G (n.-55+1832T>G)
4g.125317810G>ACA358117813FAT4c.1399G>A (p.Asp467Asn)
c.-55+1833G>A (n.-55+1833G>A)
4g.125317810G>CCA358117814FAT4c.1399G>C (p.Asp467His)
c.-55+1833G>C (n.-55+1833G>C)
4g.125317810G>TCA358117815FAT4c.1399G>T (p.Asp467Tyr)
c.-55+1833G>T (n.-55+1833G>T)
4g.125317811A>CCA358117816FAT4c.1400A>C (p.Asp467Ala)
c.-55+1834A>C (n.-55+1834A>C)
4g.125317811A>GCA358117817FAT4c.1400A>G (p.Asp467Gly)
c.-55+1834A>G (n.-55+1834A>G)
 gnomAD v4
4g.125317811A>TCA358117818FAT4c.1400A>T (p.Asp467Val)
c.-55+1834A>T (n.-55+1834A>T)
4g.125317812C>ACA358117819FAT4c.1401C>A (p.Asp467Glu)
c.-55+1835C>A (n.-55+1835C>A)
4g.125317812C>GCA358117820FAT4c.1401C>G (p.Asp467Glu)
c.-55+1835C>G (n.-55+1835C>G)
4g.125317812C>TCA441366602FAT4c.1401C>T (p.Asp467=)
c.-55+1835C>T (n.-55+1835C>T)
4g.125317813A>CCA358117823FAT4c.1402A>C (p.Ile468Leu)
c.-55+1836A>C (n.-55+1836A>C)
4g.125317813A>GCA358117821FAT4c.1402A>G (p.Ile468Val)
c.-55+1836A>G (n.-55+1836A>G)
 gnomAD v4
4g.125317813A>TCA358117822FAT4c.1402A>T (p.Ile468Phe)
c.-55+1836A>T (n.-55+1836A>T)
4g.125317814T>ACA358117824FAT4c.1403T>A (p.Ile468Asn)
c.-55+1837T>A (n.-55+1837T>A)
4g.125317814T>CCA358117825FAT4c.1403T>C (p.Ile468Thr)
c.-55+1837T>C (n.-55+1837T>C)
4g.125317814T>GCA358117826FAT4c.1403T>G (p.Ile468Ser)
c.-55+1837T>G (n.-55+1837T>G)
4g.125317815C>ACA441366610FAT4c.1404C>A (p.Ile468=)
c.-55+1838C>A (n.-55+1838C>A)
4g.125317815C>GCA358117827FAT4c.1404C>G (p.Ile468Met)
c.-55+1838C>G (n.-55+1838C>G)
4g.125317815C>TCA441366612FAT4c.1404C>T (p.Ile468=)
c.-55+1838C>T (n.-55+1838C>T)
4g.125317816A>CCA358117828FAT4c.1405A>C (p.Asn469His)
c.-55+1839A>C (n.-55+1839A>C)
4g.125317816A>GCA358117829FAT4c.1405A>G (p.Asn469Asp)
c.-55+1839A>G (n.-55+1839A>G)
4g.125317816A>TCA358117830FAT4c.1405A>T (p.Asn469Tyr)
c.-55+1839A>T (n.-55+1839A>T)
4g.125317817A=CA1491600812FAT4c.1406A= (p.Asn469=)
c.-55+1840A= (n.-55+1840A=)
4g.125317817A>CCA358117831FAT4c.1406A>C (p.Asn469Thr)
c.-55+1840A>C (n.-55+1840A>C)
4g.125317817A>GCA358117832FAT4c.1406A>G (p.Asn469Ser)
c.-55+1840A>G (n.-55+1840A>G)
 dbSNP gnomAD v3 gnomAD v4
4g.125317817A>TCA358117833FAT4c.1406A>T (p.Asn469Ile)
c.-55+1840A>T (n.-55+1840A>T)
4g.125317818T>ACA358117834FAT4c.1407T>A (p.Asn469Lys)
c.-55+1841T>A (n.-55+1841T>A)
4g.125317818T>CCA441366617FAT4c.1407T>C (p.Asn469=)
c.-55+1841T>C (n.-55+1841T>C)
4g.125317818T>GCA358117835FAT4c.1407T>G (p.Asn469Lys)
c.-55+1841T>G (n.-55+1841T>G)
4g.125317819G>ACA358117838FAT4c.1408G>A (p.Asp470Asn)
c.-55+1842G>A (n.-55+1842G>A)
4g.125317819G>CCA358117837FAT4c.1408G>C (p.Asp470His)
c.-55+1842G>C (n.-55+1842G>C)
4g.125317819G>TCA358117836FAT4c.1408G>T (p.Asp470Tyr)
c.-55+1842G>T (n.-55+1842G>T)
4g.125317820A=CA1491600819FAT4c.1409A= (p.Asp470=)
c.-55+1843A= (n.-55+1843A=)
4g.125317820A>CCA3071984FAT4c.1409A>C (p.Asp470Ala)
c.-55+1843A>C (n.-55+1843A>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.125317820A>GCA358117840FAT4c.1409A>G (p.Asp470Gly)
c.-55+1843A>G (n.-55+1843A>G)
4g.125317820A>TCA358117839FAT4c.1409A>T (p.Asp470Val)
c.-55+1843A>T (n.-55+1843A>T)
 dbSNP gnomAD v2 gnomAD v4
4g.125317821C>ACA358117841FAT4c.1410C>A (p.Asp470Glu)
c.-55+1844C>A (n.-55+1844C>A)
4g.125317821C>GCA358117842FAT4c.1410C>G (p.Asp470Glu)
c.-55+1844C>G (n.-55+1844C>G)
4g.125317821C>TCA441366627FAT4c.1410C>T (p.Asp470=)
c.-55+1844C>T (n.-55+1844C>T)
4g.125317822C>ACA358117843FAT4c.1411C>A (p.His471Asn)
c.-55+1845C>A (n.-55+1845C>A)
4g.125317822C>GCA358117844FAT4c.1411C>G (p.His471Asp)
c.-55+1845C>G (n.-55+1845C>G)
4g.125317822C>TCA358117845FAT4c.1411C>T (p.His471Tyr)
c.-55+1845C>T (n.-55+1845C>T)
4g.125317823A=CA1491600824FAT4c.1412A= (p.His471=)
c.-55+1846A= (n.-55+1846A=)
4g.125317823A>CCA358117846FAT4c.1412A>C (p.His471Pro)
c.-55+1846A>C (n.-55+1846A>C)
4g.125317823A>GCA358117847FAT4c.1412A>G (p.His471Arg)
c.-55+1846A>G (n.-55+1846A>G)
 ClinVar dbSNP gnomAD v3 gnomAD v4
4g.125317823A>TCA358117848FAT4c.1412A>T (p.His471Leu)
c.-55+1846A>T (n.-55+1846A>T)
4g.125317824T>ACA3071985FAT4c.1413T>A (p.His471Gln)
c.-55+1847T>A (n.-55+1847T>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.125317824T>CCA441366630FAT4c.1413T>C (p.His471=)
c.-55+1847T>C (n.-55+1847T>C)
 gnomAD v4
4g.125317824T>GCA358117849FAT4c.1413T>G (p.His471Gln)
c.-55+1847T>G (n.-55+1847T>G)
 COSMIC COSMIC
4g.125317824T=CA1491600831FAT4c.1413T= (p.His471=)
c.-55+1847T= (n.-55+1847T=)
4g.125317825C>ACA358117850FAT4c.1414C>A (p.Pro472Thr)
c.-55+1848C>A (n.-55+1848C>A)
4g.125317825C=CA1491600836FAT4c.1414C= (p.Pro472=)
c.-55+1848C= (n.-55+1848C=)
4g.125317825C>GCA358117851FAT4c.1414C>G (p.Pro472Ala)
c.-55+1848C>G (n.-55+1848C>G)
4g.125317825C>TCA358117852FAT4c.1414C>T (p.Pro472Ser)
c.-55+1848C>T (n.-55+1848C>T)
 dbSNP gnomAD v2 gnomAD v4
4g.125317826C>ACA358117853FAT4c.1415C>A (p.Pro472His)
c.-55+1849C>A (n.-55+1849C>A)
 gnomAD v4
4g.125317826C=CA1491600841FAT4c.1415C= (p.Pro472=)
c.-55+1849C= (n.-55+1849C=)
4g.125317826C>GCA358117855FAT4c.1415C>G (p.Pro472Arg)
c.-55+1849C>G (n.-55+1849C>G)
4g.125317826C>TCA358117854FAT4c.1415C>T (p.Pro472Leu)
c.-55+1849C>T (n.-55+1849C>T)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
4g.125317827T>ACA441366637FAT4c.1416T>A (p.Pro472=)
c.-55+1850T>A (n.-55+1850T>A)
4g.125317827T>CCA441366639FAT4c.1416T>C (p.Pro472=)
c.-55+1850T>C (n.-55+1850T>C)
4g.125317827T>GCA441366642FAT4c.1416T>G (p.Pro472=)
c.-55+1850T>G (n.-55+1850T>G)
4g.125317828C>ACA358117856FAT4c.1417C>A (p.Pro473Thr)
c.-55+1851C>A (n.-55+1851C>A)
4g.125317828C>GCA358117857FAT4c.1417C>G (p.Pro473Ala)
c.-55+1851C>G (n.-55+1851C>G)
4g.125317828C>TCA358117858FAT4c.1417C>T (p.Pro473Ser)
c.-55+1851C>T (n.-55+1851C>T)
 gnomAD v4
4g.125317829C>ACA358117859FAT4c.1418C>A (p.Pro473His)
c.-55+1852C>A (n.-55+1852C>A)
4g.125317829C>GCA358117860FAT4c.1418C>G (p.Pro473Arg)
c.-55+1852C>G (n.-55+1852C>G)
4g.125317829C>TCA358117861FAT4c.1418C>T (p.Pro473Leu)
c.-55+1852C>T (n.-55+1852C>T)
4g.125317830T>ACA441366645FAT4c.1419T>A (p.Pro473=)
c.-55+1853T>A (n.-55+1853T>A)
4g.125317830T>CCA3071986FAT4c.1419T>C (p.Pro473=)
c.-55+1853T>C (n.-55+1853T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125317830T>GCA441366646FAT4c.1419T>G (p.Pro473=)
c.-55+1853T>G (n.-55+1853T>G)
4g.125317830T=CA1491600846FAT4c.1419T= (p.Pro473=)
c.-55+1853T= (n.-55+1853T=)
4g.125317831G>ACA3071987FAT4c.1420G>A (p.Val474Ile)
c.-55+1854G>A (n.-55+1854G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125317831G>CCA358117862FAT4c.1420G>C (p.Val474Leu)
c.-55+1854G>C (n.-55+1854G>C)
 dbSNP gnomAD v4
4g.125317831G=CA1491600854FAT4c.1420G= (p.Val474=)
c.-55+1854G= (n.-55+1854G=)
4g.125317831G>TCA358117863FAT4c.1420G>T (p.Val474Phe)
c.-55+1854G>T (n.-55+1854G>T)
4g.125317832T>ACA358117866FAT4c.1421T>A (p.Val474Asp)
c.-55+1855T>A (n.-55+1855T>A)
4g.125317832T>CCA358117865FAT4c.1421T>C (p.Val474Ala)
c.-55+1855T>C (n.-55+1855T>C)
4g.125317832T>GCA358117864FAT4c.1421T>G (p.Val474Gly)
c.-55+1855T>G (n.-55+1855T>G)
 ClinVar
4g.125317833C>ACA441366655FAT4c.1422C>A (p.Val474=)
c.-55+1856C>A (n.-55+1856C>A)
4g.125317833C=CA1491600858FAT4c.1422C= (p.Val474=)
c.-55+1856C= (n.-55+1856C=)
4g.125317833C>GCA441366654FAT4c.1422C>G (p.Val474=)
c.-55+1856C>G (n.-55+1856C>G)
 dbSNP gnomAD v2 gnomAD v4
4g.125317833C>TCA441366653FAT4c.1422C>T (p.Val474=)
c.-55+1856C>T (n.-55+1856C>T)
4g.125317834T>ACA358117869FAT4c.1423T>A (p.Phe475Ile)
c.-55+1857T>A (n.-55+1857T>A)
4g.125317834T>CCA358117867FAT4c.1423T>C (p.Phe475Leu)
c.-55+1857T>C (n.-55+1857T>C)
4g.125317834T>GCA358117868FAT4c.1423T>G (p.Phe475Val)
c.-55+1857T>G (n.-55+1857T>G)
4g.125317835T>ACA358117870FAT4c.1424T>A (p.Phe475Tyr)
c.-55+1858T>A (n.-55+1858T>A)
4g.125317835T>CCA358117871FAT4c.1424T>C (p.Phe475Ser)
c.-55+1858T>C (n.-55+1858T>C)
4g.125317835T>GCA358117872FAT4c.1424T>G (p.Phe475Cys)
c.-55+1858T>G (n.-55+1858T>G)
4g.125317836T>ACA358117873FAT4c.1425T>A (p.Phe475Leu)
c.-55+1859T>A (n.-55+1859T>A)
4g.125317836T>CCA441366661FAT4c.1425T>C (p.Phe475=)
c.-55+1859T>C (n.-55+1859T>C)
4g.125317836T>GCA358117874FAT4c.1425T>G (p.Phe475Leu)
c.-55+1859T>G (n.-55+1859T>G)
4g.125317837T>ACA358117875FAT4c.1426T>A (p.Ser476Thr)
c.-55+1860T>A (n.-55+1860T>A)
4g.125317837T>CCA358117876FAT4c.1426T>C (p.Ser476Pro)
c.-55+1860T>C (n.-55+1860T>C)
4g.125317837T>GCA358117877FAT4c.1426T>G (p.Ser476Ala)
c.-55+1860T>G (n.-55+1860T>G)
4g.125317838C>ACA358117878FAT4c.1427C>A (p.Ser476Ter)
c.-55+1861C>A (n.-55+1861C>A)
4g.125317838C>GCA358117879FAT4c.1427C>G (p.Ser476Ter)
c.-55+1861C>G (n.-55+1861C>G)
 COSMIC COSMIC
4g.125317838C>TCA358117880FAT4c.1427C>T (p.Ser476Leu)
c.-55+1861C>T (n.-55+1861C>T)
4g.125317839A>CCA441366666FAT4c.1428A>C (p.Ser476=)
c.-55+1862A>C (n.-55+1862A>C)
4g.125317839A>GCA441366672FAT4c.1428A>G (p.Ser476=)
c.-55+1862A>G (n.-55+1862A>G)
4g.125317839A>TCA441366669FAT4c.1428A>T (p.Ser476=)
c.-55+1862A>T (n.-55+1862A>T)
4g.125317840C>ACA358117883FAT4c.1429C>A (p.Gln477Lys)
c.-55+1863C>A (n.-55+1863C>A)
4g.125317840C>GCA358117881FAT4c.1429C>G (p.Gln477Glu)
c.-55+1863C>G (n.-55+1863C>G)
4g.125317840C>TCA358117882FAT4c.1429C>T (p.Gln477Ter)
c.-55+1863C>T (n.-55+1863C>T)
4g.125317841A>CCA358117884FAT4c.1430A>C (p.Gln477Pro)
c.-55+1864A>C (n.-55+1864A>C)
4g.125317841A>GCA358117885FAT4c.1430A>G (p.Gln477Arg)
c.-55+1864A>G (n.-55+1864A>G)
4g.125317841A>TCA358117886FAT4c.1430A>T (p.Gln477Leu)
c.-55+1864A>T (n.-55+1864A>T)
4g.125317842G>ACA441366677FAT4c.1431G>A (p.Gln477=)
c.-55+1865G>A (n.-55+1865G>A)
4g.125317842G>CCA358117887FAT4c.1431G>C (p.Gln477His)
c.-55+1865G>C (n.-55+1865G>C)
4g.125317842G>TCA358117888FAT4c.1431G>T (p.Gln477His)
c.-55+1865G>T (n.-55+1865G>T)
4g.125317843C>ACA358117889FAT4c.1432C>A (p.Gln478Lys)
c.-55+1866C>A (n.-55+1866C>A)
 COSMIC COSMIC
4g.125317843C=CA1491600863FAT4c.1432C= (p.Gln478=)
c.-55+1866C= (n.-55+1866C=)
4g.125317843C>GCA3071988FAT4c.1432C>G (p.Gln478Glu)
c.-55+1866C>G (n.-55+1866C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125317843C>TCA358117890FAT4c.1432C>T (p.Gln478Ter)
c.-55+1866C>T (n.-55+1866C>T)
4g.125317844A>CCA358117891FAT4c.1433A>C (p.Gln478Pro)
c.-55+1867A>C (n.-55+1867A>C)
4g.125317844A>GCA358117892FAT4c.1433A>G (p.Gln478Arg)
c.-55+1867A>G (n.-55+1867A>G)
4g.125317844A>TCA358117893FAT4c.1433A>T (p.Gln478Leu)
c.-55+1867A>T (n.-55+1867A>T)
4g.125317845A>CCA358117894FAT4c.1434A>C (p.Gln478His)
c.-55+1868A>C (n.-55+1868A>C)
4g.125317845A>GCA441366683FAT4c.1434A>G (p.Gln478=)
c.-55+1868A>G (n.-55+1868A>G)
 gnomAD v4
4g.125317845A>TCA358117895FAT4c.1434A>T (p.Gln478His)
c.-55+1868A>T (n.-55+1868A>T)
4g.125317846G>ACA358117897FAT4c.1435G>A (p.Val479Met)
c.-55+1869G>A (n.-55+1869G>A)
 ClinVar
4g.125317846G>CCA358117898FAT4c.1435G>C (p.Val479Leu)
c.-55+1869G>C (n.-55+1869G>C)
4g.125317846G>TCA358117896FAT4c.1435G>T (p.Val479Leu)
c.-55+1869G>T (n.-55+1869G>T)
 gnomAD v4
4g.125317847T>ACA358117899FAT4c.1436T>A (p.Val479Glu)
c.-55+1870T>A (n.-55+1870T>A)
4g.125317847T>CCA358117900FAT4c.1436T>C (p.Val479Ala)
c.-55+1870T>C (n.-55+1870T>C)
4g.125317847T>GCA358117901FAT4c.1436T>G (p.Val479Gly)
c.-55+1870T>G (n.-55+1870T>G)
4g.125317848G>ACA441366689FAT4c.1437G>A (p.Val479=)
c.-55+1871G>A (n.-55+1871G>A)
 gnomAD v4
4g.125317848G>CCA441366690FAT4c.1437G>C (p.Val479=)
c.-55+1871G>C (n.-55+1871G>C)
4g.125317848G>TCA441366691FAT4c.1437G>T (p.Val479=)
c.-55+1871G>T (n.-55+1871G>T)
4g.125317849T>ACA358117902FAT4c.1438T>A (p.Tyr480Asn)
c.-55+1872T>A (n.-55+1872T>A)
4g.125317849T>CCA358117903FAT4c.1438T>C (p.Tyr480His)
c.-55+1872T>C (n.-55+1872T>C)
4g.125317849T>GCA358117904FAT4c.1438T>G (p.Tyr480Asp)
c.-55+1872T>G (n.-55+1872T>G)
4g.125317850A>CCA358117905FAT4c.1439A>C (p.Tyr480Ser)
c.-55+1873A>C (n.-55+1873A>C)
4g.125317850A>GCA358117906FAT4c.1439A>G (p.Tyr480Cys)
c.-55+1873A>G (n.-55+1873A>G)
4g.125317850A>TCA358117907FAT4c.1439A>T (p.Tyr480Phe)
c.-55+1873A>T (n.-55+1873A>T)
4g.125317851C>ACA358117908FAT4c.1440C>A (p.Tyr480Ter)
c.-55+1874C>A (n.-55+1874C>A)
4g.125317851C>GCA358117909FAT4c.1440C>G (p.Tyr480Ter)
c.-55+1874C>G (n.-55+1874C>G)
4g.125317851C>TCA441366701FAT4c.1440C>T (p.Tyr480=)
c.-55+1874C>T (n.-55+1874C>T)
4g.125317852A=CA1491600867FAT4c.1441A= (p.Arg481=)
c.-55+1875A= (n.-55+1875A=)
4g.125317852A>CCA441366702FAT4c.1441A>C (p.Arg481=)
c.-55+1875A>C (n.-55+1875A>C)
4g.125317852A>GCA358117910FAT4c.1441A>G (p.Arg481Gly)
c.-55+1875A>G (n.-55+1875A>G)
 dbSNP gnomAD v4
4g.125317852A>TCA358117911FAT4c.1441A>T (p.Arg481Ter)
c.-55+1875A>T (n.-55+1875A>T)
 gnomAD v4
4g.125317853G>ACA358117914FAT4c.1442G>A (p.Arg481Lys)
c.-55+1876G>A (n.-55+1876G>A)
4g.125317853G>CCA358117913FAT4c.1442G>C (p.Arg481Thr)
c.-55+1876G>C (n.-55+1876G>C)
4g.125317853G>TCA358117912FAT4c.1442G>T (p.Arg481Ile)
c.-55+1876G>T (n.-55+1876G>T)
4g.125317854A=CA1491600874FAT4c.1443A= (p.Arg481=)
c.-55+1877A= (n.-55+1877A=)
4g.125317854A>CCA358117915FAT4c.1443A>C (p.Arg481Ser)
c.-55+1877A>C (n.-55+1877A>C)
4g.125317854A>GCA104864067FAT4c.1443A>G (p.Arg481=)
c.-55+1877A>G (n.-55+1877A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.125317854A>TCA358117916FAT4c.1443A>T (p.Arg481Ser)
c.-55+1877A>T (n.-55+1877A>T)
4g.125317855G>ACA358117917FAT4c.1444G>A (p.Val482Met)
c.-55+1878G>A (n.-55+1878G>A)
 dbSNP gnomAD v4
4g.125317855G>CCA358117918FAT4c.1444G>C (p.Val482Leu)
c.-55+1878G>C (n.-55+1878G>C)
4g.125317855G=CA1491600882FAT4c.1444G= (p.Val482=)
c.-55+1878G= (n.-55+1878G=)
4g.125317855G>TCA358117919FAT4c.1444G>T (p.Val482Leu)
c.-55+1878G>T (n.-55+1878G>T)
4g.125317856T>ACA358117920FAT4c.1445T>A (p.Val482Glu)
c.-55+1879T>A (n.-55+1879T>A)
4g.125317856T>CCA358117921FAT4c.1445T>C (p.Val482Ala)
c.-55+1879T>C (n.-55+1879T>C)
 dbSNP gnomAD v2 gnomAD v4
4g.125317856T>GCA358117922FAT4c.1445T>G (p.Val482Gly)
c.-55+1879T>G (n.-55+1879T>G)
4g.125317856T=CA1491600885FAT4c.1445T= (p.Val482=)
c.-55+1879T= (n.-55+1879T=)
4g.125317857G>ACA441366711FAT4c.1446G>A (p.Val482=)
c.-55+1880G>A (n.-55+1880G>A)
4g.125317857G>CCA441366713FAT4c.1446G>C (p.Val482=)
c.-55+1880G>C (n.-55+1880G>C)
4g.125317857G>TCA441366714FAT4c.1446G>T (p.Val482=)
c.-55+1880G>T (n.-55+1880G>T)
4g.125317858A>CCA358117923FAT4c.1447A>C (p.Asn483His)
c.-55+1881A>C (n.-55+1881A>C)
4g.125317858A>GCA358117924FAT4c.1447A>G (p.Asn483Asp)
c.-55+1881A>G (n.-55+1881A>G)
4g.125317858A>TCA358117925FAT4c.1447A>T (p.Asn483Tyr)
c.-55+1881A>T (n.-55+1881A>T)
4g.125317859A>CCA358117926FAT4c.1448A>C (p.Asn483Thr)
c.-55+1882A>C (n.-55+1882A>C)
4g.125317859A>GCA358117927FAT4c.1448A>G (p.Asn483Ser)
c.-55+1882A>G (n.-55+1882A>G)
 ClinVar dbSNP gnomAD v4
4g.125317859A>TCA358117928FAT4c.1448A>T (p.Asn483Ile)
c.-55+1882A>T (n.-55+1882A>T)
4g.125317860C>ACA358117929FAT4c.1449C>A (p.Asn483Lys)
c.-55+1883C>A (n.-55+1883C>A)
4g.125317860C=CA1491600886FAT4c.1449C= (p.Asn483=)
c.-55+1883C= (n.-55+1883C=)
4g.125317860C>GCA358117930FAT4c.1449C>G (p.Asn483Lys)
c.-55+1883C>G (n.-55+1883C>G)
4g.125317860C>TCA3071989FAT4c.1449C>T (p.Asn483=)
c.-55+1883C>T (n.-55+1883C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125317861C>ACA3071990FAT4c.1450C>A (p.Leu484Met)
c.-55+1884C>A (n.-55+1884C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.125317861C=CA1491600888FAT4c.1450C= (p.Leu484=)
c.-55+1884C= (n.-55+1884C=)
4g.125317861C>GCA358117931FAT4c.1450C>G (p.Leu484Val)
c.-55+1884C>G (n.-55+1884C>G)
4g.125317861C>TCA441366725FAT4c.1450C>T (p.Leu484=)
c.-55+1884C>T (n.-55+1884C>T)
4g.125317862T>ACA358117932FAT4c.1451T>A (p.Leu484Gln)
c.-55+1885T>A (n.-55+1885T>A)
 ClinVar gnomAD v4
4g.125317862T>CCA3071991FAT4c.1451T>C (p.Leu484Pro)
c.-55+1885T>C (n.-55+1885T>C)
 dbSNP ExAC gnomAD v2
4g.125317862T>GCA358117933FAT4c.1451T>G (p.Leu484Arg)
c.-55+1885T>G (n.-55+1885T>G)
 dbSNP gnomAD v2 gnomAD v4
4g.125317862T=CA1491600890FAT4c.1451T= (p.Leu484=)
c.-55+1885T= (n.-55+1885T=)
4g.125317863G>ACA441366727FAT4c.1452G>A (p.Leu484=)
c.-55+1886G>A (n.-55+1886G>A)
 ClinVar
4g.125317863G>CCA441366728FAT4c.1452G>C (p.Leu484=)
c.-55+1886G>C (n.-55+1886G>C)
4g.125317863G>TCA441366729FAT4c.1452G>T (p.Leu484=)
c.-55+1886G>T (n.-55+1886G>T)
4g.125317864A=CA1491600896FAT4c.1453A= (p.Ser485=)
c.-55+1887A= (n.-55+1887A=)
4g.125317864A>CCA358117934FAT4c.1453A>C (p.Ser485Arg)
c.-55+1887A>C (n.-55+1887A>C)
4g.125317864A>GCA3071992FAT4c.1453A>G (p.Ser485Gly)
c.-55+1887A>G (n.-55+1887A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125317864A>TCA358117935FAT4c.1453A>T (p.Ser485Cys)
c.-55+1887A>T (n.-55+1887A>T)
4g.125317865G>ACA358117936FAT4c.1454G>A (p.Ser485Asn)
c.-55+1888G>A (n.-55+1888G>A)
4g.125317865G>CCA358117937FAT4c.1454G>C (p.Ser485Thr)
c.-55+1888G>C (n.-55+1888G>C)
 gnomAD v4
4g.125317865G>TCA358117938FAT4c.1454G>T (p.Ser485Ile)
c.-55+1888G>T (n.-55+1888G>T)
4g.125317866C>ACA358117939FAT4c.1455C>A (p.Ser485Arg)
c.-55+1889C>A (n.-55+1889C>A)
4g.125317866C>GCA358117940FAT4c.1455C>G (p.Ser485Arg)
c.-55+1889C>G (n.-55+1889C>G)
4g.125317866C>TCA441366738FAT4c.1455C>T (p.Ser485=)
c.-55+1889C>T (n.-55+1889C>T)
 COSMIC COSMIC
4g.125317867G>ACA3071993FAT4c.1456G>A (p.Glu486Lys)
c.-55+1890G>A (n.-55+1890G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
4g.125317867G>CCA358117942FAT4c.1456G>C (p.Glu486Gln)
c.-55+1890G>C (n.-55+1890G>C)
4g.125317867G=CA1491600907FAT4c.1456G= (p.Glu486=)
c.-55+1890G= (n.-55+1890G=)
4g.125317867G>TCA358117941FAT4c.1456G>T (p.Glu486Ter)
c.-55+1890G>T (n.-55+1890G>T)
4g.125317868A>CCA358117943FAT4c.1457A>C (p.Glu486Ala)
c.-55+1891A>C (n.-55+1891A>C)
4g.125317868A>GCA358117944FAT4c.1457A>G (p.Glu486Gly)
c.-55+1891A>G (n.-55+1891A>G)
4g.125317868A>TCA358117945FAT4c.1457A>T (p.Glu486Val)
c.-55+1891A>T (n.-55+1891A>T)
4g.125317869G>ACA441366743FAT4c.1458G>A (p.Glu486=)
c.-55+1892G>A (n.-55+1892G>A)
4g.125317869G>CCA358117946FAT4c.1458G>C (p.Glu486Asp)
c.-55+1892G>C (n.-55+1892G>C)
4g.125317869G>TCA358117947FAT4c.1458G>T (p.Glu486Asp)
c.-55+1892G>T (n.-55+1892G>T)
4g.125317870G>ACA358117948FAT4c.1459G>A (p.Glu487Lys)
c.-55+1893G>A (n.-55+1893G>A)
 ClinVar
4g.125317870G>CCA358117949FAT4c.1459G>C (p.Glu487Gln)
c.-55+1893G>C (n.-55+1893G>C)
4g.125317870G>TCA358117950FAT4c.1459G>T (p.Glu487Ter)
c.-55+1893G>T (n.-55+1893G>T)
4g.125317871A>CCA358117951FAT4c.1460A>C (p.Glu487Ala)
c.-55+1894A>C (n.-55+1894A>C)
4g.125317871A>GCA358117952FAT4c.1460A>G (p.Glu487Gly)
c.-55+1894A>G (n.-55+1894A>G)
4g.125317871A>TCA358117953FAT4c.1460A>T (p.Glu487Val)
c.-55+1894A>T (n.-55+1894A>T)
4g.125317872G>ACA441366748FAT4c.1461G>A (p.Glu487=)
c.-55+1895G>A (n.-55+1895G>A)
4g.125317872G>CCA358117954FAT4c.1461G>C (p.Glu487Asp)
c.-55+1895G>C (n.-55+1895G>C)
4g.125317872G>TCA358117955FAT4c.1461G>T (p.Glu487Asp)
c.-55+1895G>T (n.-55+1895G>T)
4g.125317873G>ACA3071994FAT4c.1462G>A (p.Ala488Thr)
c.-55+1896G>A (n.-55+1896G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125317873G>CCA358117956FAT4c.1462G>C (p.Ala488Pro)
c.-55+1896G>C (n.-55+1896G>C)
4g.125317873G=CA1491600911FAT4c.1462G= (p.Ala488=)
c.-55+1896G= (n.-55+1896G=)
4g.125317873G>TCA358117957FAT4c.1462G>T (p.Ala488Ser)
c.-55+1896G>T (n.-55+1896G>T)
 gnomAD v4
4g.125317874C>ACA358117958FAT4c.1463C>A (p.Ala488Glu)
c.-55+1897C>A (n.-55+1897C>A)
4g.125317874C>GCA358117959FAT4c.1463C>G (p.Ala488Gly)
c.-55+1897C>G (n.-55+1897C>G)
4g.125317874C>TCA358117960FAT4c.1463C>T (p.Ala488Val)
c.-55+1897C>T (n.-55+1897C>T)
 gnomAD v4
4g.125317875G>ACA3071995FAT4c.1464G>A (p.Ala488=)
c.-55+1898G>A (n.-55+1898G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.125317875G>CCA441366755FAT4c.1464G>C (p.Ala488=)
c.-55+1898G>C (n.-55+1898G>C)
 dbSNP gnomAD v2 gnomAD v4
4g.125317875G=CA1491600917FAT4c.1464G= (p.Ala488=)
c.-55+1898G= (n.-55+1898G=)
4g.125317875G>TCA441366754FAT4c.1464G>T (p.Ala488=)
c.-55+1898G>T (n.-55+1898G>T)
4g.125317876C>ACA358117961FAT4c.1465C>A (p.Pro489Thr)
c.-55+1899C>A (n.-55+1899C>A)
4g.125317876C=CA1491600924FAT4c.1465C= (p.Pro489=)
c.-55+1899C= (n.-55+1899C=)
4g.125317876C>GCA358117962FAT4c.1465C>G (p.Pro489Ala)
c.-55+1899C>G (n.-55+1899C>G)
 dbSNP gnomAD v4
4g.125317876C>TCA358117963FAT4c.1465C>T (p.Pro489Ser)
c.-55+1899C>T (n.-55+1899C>T)
4g.125317877C>ACA358117964FAT4c.1466C>A (p.Pro489His)
c.-55+1900C>A (n.-55+1900C>A)
4g.125317877C>GCA358117965FAT4c.1466C>G (p.Pro489Arg)
c.-55+1900C>G (n.-55+1900C>G)
4g.125317877C>TCA358117966FAT4c.1466C>T (p.Pro489Leu)
c.-55+1900C>T (n.-55+1900C>T)
4g.125317878T>ACA3071996FAT4c.1467T>A (p.Pro489=)
c.-55+1901T>A (n.-55+1901T>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.125317878T>CCA441366758FAT4c.1467T>C (p.Pro489=)
c.-55+1901T>C (n.-55+1901T>C)
4g.125317878T>GCA441366759FAT4c.1467T>G (p.Pro489=)
c.-55+1901T>G (n.-55+1901T>G)
4g.125317878T=CA1491600929FAT4c.1467T= (p.Pro489=)
c.-55+1901T= (n.-55+1901T=)
4g.125317879C>ACA358117969FAT4c.1468C>A (p.Pro490Thr)
c.-55+1902C>A (n.-55+1902C>A)
 dbSNP gnomAD v4
4g.125317879C=CA1491600931FAT4c.1468C= (p.Pro490=)
c.-55+1902C= (n.-55+1902C=)
4g.125317879C>GCA358117968FAT4c.1468C>G (p.Pro490Ala)
c.-55+1902C>G (n.-55+1902C>G)
4g.125317879C>TCA358117967FAT4c.1468C>T (p.Pro490Ser)
c.-55+1902C>T (n.-55+1902C>T)
4g.125317880C>ACA358117970FAT4c.1469C>A (p.Pro490Gln)
c.-55+1903C>A (n.-55+1903C>A)
4g.125317880C>GCA358117971FAT4c.1469C>G (p.Pro490Arg)
c.-55+1903C>G (n.-55+1903C>G)
4g.125317880C>TCA358117972FAT4c.1469C>T (p.Pro490Leu)
c.-55+1903C>T (n.-55+1903C>T)
 gnomAD v4
4g.125317881G>ACA3071997FAT4c.1470G>A (p.Pro490=)
c.-55+1904G>A (n.-55+1904G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125317881G>CCA441366768FAT4c.1470G>C (p.Pro490=)
c.-55+1904G>C (n.-55+1904G>C)
4g.125317881G=CA1491600933FAT4c.1470G= (p.Pro490=)
c.-55+1904G= (n.-55+1904G=)
4g.125317881G>TCA441366765FAT4c.1470G>T (p.Pro490=)
c.-55+1904G>T (n.-55+1904G>T)
4g.125317882G>ACA358117973FAT4c.1471G>A (p.Gly491Arg)
c.-55+1905G>A (n.-55+1905G>A)
 dbSNP gnomAD v2 gnomAD v4
4g.125317882G>CCA358117974FAT4c.1471G>C (p.Gly491Arg)
c.-55+1905G>C (n.-55+1905G>C)
4g.125317882G=CA1491600939FAT4c.1471G= (p.Gly491=)
c.-55+1905G= (n.-55+1905G=)
4g.125317882G>TCA358117975FAT4c.1471G>T (p.Gly491Ter)
c.-55+1905G>T (n.-55+1905G>T)
4g.125317883G>ACA358117976FAT4c.1472G>A (p.Gly491Glu)
c.-55+1906G>A (n.-55+1906G>A)
4g.125317883G>CCA358117977FAT4c.1472G>C (p.Gly491Ala)
c.-55+1906G>C (n.-55+1906G>C)
4g.125317883G>TCA358117978FAT4c.1472G>T (p.Gly491Val)
c.-55+1906G>T (n.-55+1906G>T)
4g.125317884A=CA1491600940FAT4c.1473A= (p.Gly491=)
c.-55+1907A= (n.-55+1907A=)
4g.125317884A>CCA441366774FAT4c.1473A>C (p.Gly491=)
c.-55+1907A>C (n.-55+1907A>C)
4g.125317884A>GCA441366775FAT4c.1473A>G (p.Gly491=)
c.-55+1907A>G (n.-55+1907A>G)
4g.125317884A>TCA104864101FAT4c.1473A>T (p.Gly491=)
c.-55+1907A>T (n.-55+1907A>T)
 dbSNP
4g.125317885A>CCA358117979FAT4c.1474A>C (p.Ser492Arg)
c.-55+1908A>C (n.-55+1908A>C)
4g.125317885A>GCA358117980FAT4c.1474A>G (p.Ser492Gly)
c.-55+1908A>G (n.-55+1908A>G)
 gnomAD v4
4g.125317885A>TCA358117981FAT4c.1474A>T (p.Ser492Cys)
c.-55+1908A>T (n.-55+1908A>T)
4g.125317886G>ACA358117983FAT4c.1475G>A (p.Ser492Asn)
c.-55+1909G>A (n.-55+1909G>A)
4g.125317886G>CCA358117984FAT4c.1475G>C (p.Ser492Thr)
c.-55+1909G>C (n.-55+1909G>C)
4g.125317886G>TCA358117982FAT4c.1475G>T (p.Ser492Ile)
c.-55+1909G>T (n.-55+1909G>T)
4g.125317887C>ACA358117985FAT4c.1476C>A (p.Ser492Arg)
c.-55+1910C>A (n.-55+1910C>A)
4g.125317887C>GCA358117986FAT4c.1476C>G (p.Ser492Arg)
c.-55+1910C>G (n.-55+1910C>G)
4g.125317887C>TCA441366786FAT4c.1476C>T (p.Ser492=)
c.-55+1910C>T (n.-55+1910C>T)
4g.125317888T>ACA358117987FAT4c.1477T>A (p.Tyr493Asn)
c.-55+1911T>A (n.-55+1911T>A)
4g.125317888T>CCA3071998FAT4c.1477T>C (p.Tyr493His)
c.-55+1911T>C (n.-55+1911T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.125317888T>GCA358117988FAT4c.1477T>G (p.Tyr493Asp)
c.-55+1911T>G (n.-55+1911T>G)
4g.125317888T=CA1491600945FAT4c.1477T= (p.Tyr493=)
c.-55+1911T= (n.-55+1911T=)
4g.125317889A>CCA358117989FAT4c.1478A>C (p.Tyr493Ser)
c.-55+1912A>C (n.-55+1912A>C)
4g.125317889A>GCA358117990FAT4c.1478A>G (p.Tyr493Cys)
c.-55+1912A>G (n.-55+1912A>G)
4g.125317889A>TCA358117991FAT4c.1478A>T (p.Tyr493Phe)
c.-55+1912A>T (n.-55+1912A>T)
4g.125317890T>ACA358117992FAT4c.1479T>A (p.Tyr493Ter)
c.-55+1913T>A (n.-55+1913T>A)
4g.125317890T>CCA441366793FAT4c.1479T>C (p.Tyr493=)
c.-55+1913T>C (n.-55+1913T>C)
 ClinVar
4g.125317890T>GCA358117993FAT4c.1479T>G (p.Tyr493Ter)
c.-55+1913T>G (n.-55+1913T>G)
4g.125317891G>ACA358117994FAT4c.1480G>A (p.Val494Met)
c.-55+1914G>A (n.-55+1914G>A)
4g.125317891G>CCA358117995FAT4c.1480G>C (p.Val494Leu)
c.-55+1914G>C (n.-55+1914G>C)
4g.125317891G=CA1491600950FAT4c.1480G= (p.Val494=)
c.-55+1914G= (n.-55+1914G=)
4g.125317891G>TCA358117996FAT4c.1480G>T (p.Val494Leu)
c.-55+1914G>T (n.-55+1914G>T)
 dbSNP gnomAD v3 gnomAD v4
4g.125317892T>ACA358117998FAT4c.1481T>A (p.Val494Glu)
c.-55+1915T>A (n.-55+1915T>A)
4g.125317892T>CCA3071999FAT4c.1481T>C (p.Val494Ala)
c.-55+1915T>C (n.-55+1915T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.125317892T>GCA358117997FAT4c.1481T>G (p.Val494Gly)
c.-55+1915T>G (n.-55+1915T>G)
 dbSNP gnomAD v3 gnomAD v4
4g.125317892T=CA1491600955FAT4c.1481T= (p.Val494=)
c.-55+1915T= (n.-55+1915T=)

Number of alleles fetched