Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.125317763C>ACA358117721FAT4c.1352C>A (p.Ala451Glu)
c.-55+1786C>A (n.-55+1786C>A)
4g.125317763C=CA1491600718FAT4c.1352C= (p.Ala451=)
c.-55+1786C= (n.-55+1786C=)
4g.125317763C>GCA358117722FAT4c.1352C>G (p.Ala451Gly)
c.-55+1786C>G (n.-55+1786C>G)
4g.125317763C>TCA358117723FAT4c.1352C>T (p.Ala451Val)
c.-55+1786C>T (n.-55+1786C>T)
 dbSNP gnomAD v2
4g.125317764A=CA1491600721FAT4c.1353A= (p.Ala451=)
c.-55+1787A= (n.-55+1787A=)
4g.125317764A>CCA3071970FAT4c.1353A>C (p.Ala451=)
c.-55+1787A>C (n.-55+1787A>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.125317764A>GCA441366489FAT4c.1353A>G (p.Ala451=)
c.-55+1787A>G (n.-55+1787A>G)
4g.125317764A>TCA441366490FAT4c.1353A>T (p.Ala451=)
c.-55+1787A>T (n.-55+1787A>T)
4g.125317765G>ACA358117725FAT4c.1354G>A (p.Val452Ile)
c.-55+1788G>A (n.-55+1788G>A)
4g.125317765G>CCA358117724FAT4c.1354G>C (p.Val452Leu)
c.-55+1788G>C (n.-55+1788G>C)
4g.125317765G>TCA358117726FAT4c.1354G>T (p.Val452Phe)
c.-55+1788G>T (n.-55+1788G>T)
 gnomAD v4
4g.125317766T>ACA358117727FAT4c.1355T>A (p.Val452Asp)
c.-55+1789T>A (n.-55+1789T>A)
4g.125317766T>CCA358117729FAT4c.1355T>C (p.Val452Ala)
c.-55+1789T>C (n.-55+1789T>C)
4g.125317766T>GCA358117728FAT4c.1355T>G (p.Val452Gly)
c.-55+1789T>G (n.-55+1789T>G)
4g.125317767C>ACA441366494FAT4c.1356C>A (p.Val452=)
c.-55+1790C>A (n.-55+1790C>A)
 dbSNP
4g.125317767C=CA1491600723FAT4c.1356C= (p.Val452=)
c.-55+1790C= (n.-55+1790C=)
4g.125317767C>GCA441366495FAT4c.1356C>G (p.Val452=)
c.-55+1790C>G (n.-55+1790C>G)
4g.125317767C>TCA441366496FAT4c.1356C>T (p.Val452=)
c.-55+1790C>T (n.-55+1790C>T)
4g.125317768C>ACA358117730FAT4c.1357C>A (p.Gln453Lys)
c.-55+1791C>A (n.-55+1791C>A)
4g.125317768C>GCA358117732FAT4c.1357C>G (p.Gln453Glu)
c.-55+1791C>G (n.-55+1791C>G)
4g.125317768C>TCA358117731FAT4c.1357C>T (p.Gln453Ter)
c.-55+1791C>T (n.-55+1791C>T)
4g.125317769A=CA1491600729FAT4c.1358A= (p.Gln453=)
c.-55+1792A= (n.-55+1792A=)
4g.125317769A>CCA3071972FAT4c.1358A>C (p.Gln453Pro)
c.-55+1792A>C (n.-55+1792A>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125317769A>GCA3071973FAT4c.1358A>G (p.Gln453Arg)
c.-55+1792A>G (n.-55+1792A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125317769A>TCA3071971FAT4c.1358A>T (p.Gln453Leu)
c.-55+1792A>T (n.-55+1792A>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125317770G>ACA441366504FAT4c.1359G>A (p.Gln453=)
c.-55+1793G>A (n.-55+1793G>A)
 dbSNP
4g.125317770G>CCA358117733FAT4c.1359G>C (p.Gln453His)
c.-55+1793G>C (n.-55+1793G>C)
4g.125317770G>TCA358117734FAT4c.1359G>T (p.Gln453His)
c.-55+1793G>T (n.-55+1793G>T)
4g.125317771G>ACA358117735FAT4c.1360G>A (p.Ala454Thr)
c.-55+1794G>A (n.-55+1794G>A)
 dbSNP
4g.125317771G>CCA358117736FAT4c.1360G>C (p.Ala454Pro)
c.-55+1794G>C (n.-55+1794G>C)
4g.125317771G>TCA358117737FAT4c.1360G>T (p.Ala454Ser)
c.-55+1794G>T (n.-55+1794G>T)
4g.125317772C>ACA358117738FAT4c.1361C>A (p.Ala454Glu)
c.-55+1795C>A (n.-55+1795C>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
4g.125317772C=CA1491600737FAT4c.1361C= (p.Ala454=)
c.-55+1795C= (n.-55+1795C=)
4g.125317772C>GCA358117739FAT4c.1361C>G (p.Ala454Gly)
c.-55+1795C>G (n.-55+1795C>G)
4g.125317772C>TCA358117740FAT4c.1361C>T (p.Ala454Val)
c.-55+1795C>T (n.-55+1795C>T)
 gnomAD v4
4g.125317773G>ACA441366510FAT4c.1362G>A (p.Ala454=)
c.-55+1796G>A (n.-55+1796G>A)
 dbSNP gnomAD v4
4g.125317773G>CCA441366511FAT4c.1362G>C (p.Ala454=)
c.-55+1796G>C (n.-55+1796G>C)
4g.125317773G=CA1491600741FAT4c.1362G= (p.Ala454=)
c.-55+1796G= (n.-55+1796G=)
4g.125317773G>TCA441366513FAT4c.1362G>T (p.Ala454=)
c.-55+1796G>T (n.-55+1796G>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
4g.125317774C>ACA358117743FAT4c.1363C>A (p.Arg455Ser)
c.-55+1797C>A (n.-55+1797C>A)
 gnomAD v4
4g.125317774C=CA1491600743FAT4c.1363C= (p.Arg455=)
c.-55+1797C= (n.-55+1797C=)
4g.125317774C>GCA358117741FAT4c.1363C>G (p.Arg455Gly)
c.-55+1797C>G (n.-55+1797C>G)
4g.125317774C>TCA358117742FAT4c.1363C>T (p.Arg455Cys)
c.-55+1797C>T (n.-55+1797C>T)
 dbSNP gnomAD v2 gnomAD v4
4g.125317775G>ACA358117744FAT4c.1364G>A (p.Arg455His)
c.-55+1798G>A (n.-55+1798G>A)
 dbSNP gnomAD v2 gnomAD v4
4g.125317775G>CCA358117745FAT4c.1364G>C (p.Arg455Pro)
c.-55+1798G>C (n.-55+1798G>C)
4g.125317775G=CA1491600747FAT4c.1364G= (p.Arg455=)
c.-55+1798G= (n.-55+1798G=)
4g.125317775G>TCA358117746FAT4c.1364G>T (p.Arg455Leu)
c.-55+1798G>T (n.-55+1798G>T)
 dbSNP gnomAD v4
4g.125317776C>ACA441366521FAT4c.1365C>A (p.Arg455=)
c.-55+1799C>A (n.-55+1799C>A)
4g.125317776C=CA1491600749FAT4c.1365C= (p.Arg455=)
c.-55+1799C= (n.-55+1799C=)
4g.125317776C>GCA3071974FAT4c.1365C>G (p.Arg455=)
c.-55+1799C>G (n.-55+1799C>G)
 dbSNP ExAC gnomAD v3 gnomAD v4
4g.125317776C>TCA441366522FAT4c.1365C>T (p.Arg455=)
c.-55+1799C>T (n.-55+1799C>T)
4g.125317777T>ACA358117747FAT4c.1366T>A (p.Ser456Thr)
c.-55+1800T>A (n.-55+1800T>A)
4g.125317777T>CCA358117748FAT4c.1366T>C (p.Ser456Pro)
c.-55+1800T>C (n.-55+1800T>C)
4g.125317777T>GCA358117749FAT4c.1366T>G (p.Ser456Ala)
c.-55+1800T>G (n.-55+1800T>G)
4g.125317778C>ACA358117750FAT4c.1367C>A (p.Ser456Tyr)
c.-55+1801C>A (n.-55+1801C>A)
4g.125317778C>GCA358117751FAT4c.1367C>G (p.Ser456Cys)
c.-55+1801C>G (n.-55+1801C>G)
4g.125317778C>TCA358117752FAT4c.1367C>T (p.Ser456Phe)
c.-55+1801C>T (n.-55+1801C>T)
4g.125317779T>ACA441366523FAT4c.1368T>A (p.Ser456=)
c.-55+1802T>A (n.-55+1802T>A)
4g.125317779T>CCA441366524FAT4c.1368T>C (p.Ser456=)
c.-55+1802T>C (n.-55+1802T>C)
4g.125317779T>GCA441366526FAT4c.1368T>G (p.Ser456=)
c.-55+1802T>G (n.-55+1802T>G)
4g.125317780T>ACA358117755FAT4c.1369T>A (p.Ser457Thr)
c.-55+1803T>A (n.-55+1803T>A)
4g.125317780T>CCA358117754FAT4c.1369T>C (p.Ser457Pro)
c.-55+1803T>C (n.-55+1803T>C)
 gnomAD v4
4g.125317780T>GCA358117753FAT4c.1369T>G (p.Ser457Ala)
c.-55+1803T>G (n.-55+1803T>G)
4g.125317781C>ACA358117756FAT4c.1370C>A (p.Ser457Tyr)
c.-55+1804C>A (n.-55+1804C>A)
4g.125317781C=CA1491600753FAT4c.1370C= (p.Ser457=)
c.-55+1804C= (n.-55+1804C=)
4g.125317781C>GCA358117757FAT4c.1370C>G (p.Ser457Cys)
c.-55+1804C>G (n.-55+1804C>G)
4g.125317781C>TCA3071975FAT4c.1370C>T (p.Ser457Phe)
c.-55+1804C>T (n.-55+1804C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125317782T>ACA441366530FAT4c.1371T>A (p.Ser457=)
c.-55+1805T>A (n.-55+1805T>A)
4g.125317782T>CCA441366531FAT4c.1371T>C (p.Ser457=)
c.-55+1805T>C (n.-55+1805T>C)
4g.125317782T>GCA3071976FAT4c.1371T>G (p.Ser457=)
c.-55+1805T>G (n.-55+1805T>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.125317782T=CA1491600758FAT4c.1371T= (p.Ser457=)
c.-55+1805T= (n.-55+1805T=)
4g.125317783G>ACA358117758FAT4c.1372G>A (p.Val458Met)
c.-55+1806G>A (n.-55+1806G>A)
 gnomAD v4
4g.125317783G>CCA358117759FAT4c.1372G>C (p.Val458Leu)
c.-55+1806G>C (n.-55+1806G>C)
4g.125317783G>TCA358117760FAT4c.1372G>T (p.Val458Leu)
c.-55+1806G>T (n.-55+1806G>T)
4g.125317784T>ACA358117761FAT4c.1373T>A (p.Val458Glu)
c.-55+1807T>A (n.-55+1807T>A)
4g.125317784T>CCA358117762FAT4c.1373T>C (p.Val458Ala)
c.-55+1807T>C (n.-55+1807T>C)
4g.125317784T>GCA358117763FAT4c.1373T>G (p.Val458Gly)
c.-55+1807T>G (n.-55+1807T>G)
4g.125317785G>ACA441366537FAT4c.1374G>A (p.Val458=)
c.-55+1808G>A (n.-55+1808G>A)
4g.125317785G>CCA441366539FAT4c.1374G>C (p.Val458=)
c.-55+1808G>C (n.-55+1808G>C)
4g.125317785G>TCA441366538FAT4c.1374G>T (p.Val458=)
c.-55+1808G>T (n.-55+1808G>T)
 COSMIC COSMIC
4g.125317786G>ACA358117764FAT4c.1375G>A (p.Ala459Thr)
c.-55+1809G>A (n.-55+1809G>A)
4g.125317786G>CCA358117765FAT4c.1375G>C (p.Ala459Pro)
c.-55+1809G>C (n.-55+1809G>C)
4g.125317786G=CA1491600765FAT4c.1375G= (p.Ala459=)
c.-55+1809G= (n.-55+1809G=)
4g.125317786G>TCA3071977FAT4c.1375G>T (p.Ala459Ser)
c.-55+1809G>T (n.-55+1809G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125317787C>ACA358117766FAT4c.1376C>A (p.Ala459Glu)
c.-55+1810C>A (n.-55+1810C>A)
4g.125317787C>GCA358117768FAT4c.1376C>G (p.Ala459Gly)
c.-55+1810C>G (n.-55+1810C>G)
4g.125317787C>TCA358117767FAT4c.1376C>T (p.Ala459Val)
c.-55+1810C>T (n.-55+1810C>T)
 gnomAD v4
4g.125317788A>CCA441366546FAT4c.1377A>C (p.Ala459=)
c.-55+1811A>C (n.-55+1811A>C)
4g.125317788A>GCA441366547FAT4c.1377A>G (p.Ala459=)
c.-55+1811A>G (n.-55+1811A>G)
4g.125317788A>TCA441366548FAT4c.1377A>T (p.Ala459=)
c.-55+1811A>T (n.-55+1811A>T)
4g.125317789A=CA1491600769FAT4c.1378A= (p.Ser460=)
c.-55+1812A= (n.-55+1812A=)
4g.125317789A>CCA358117769FAT4c.1378A>C (p.Ser460Arg)
c.-55+1812A>C (n.-55+1812A>C)
4g.125317789A>GCA3071978FAT4c.1378A>G (p.Ser460Gly)
c.-55+1812A>G (n.-55+1812A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125317789A>TCA358117770FAT4c.1378A>T (p.Ser460Cys)
c.-55+1812A>T (n.-55+1812A>T)
4g.125317790G>ACA3071979FAT4c.1379G>A (p.Ser460Asn)
c.-55+1813G>A (n.-55+1813G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.125317790G>CCA358117771FAT4c.1379G>C (p.Ser460Thr)
c.-55+1813G>C (n.-55+1813G>C)
4g.125317790G=CA1491600773FAT4c.1379G= (p.Ser460=)
c.-55+1813G= (n.-55+1813G=)
4g.125317790G>TCA358117772FAT4c.1379G>T (p.Ser460Ile)
c.-55+1813G>T (n.-55+1813G>T)
4g.125317791C>ACA358117773FAT4c.1380C>A (p.Ser460Arg)
c.-55+1814C>A (n.-55+1814C>A)
4g.125317791C=CA1491600780FAT4c.1380C= (p.Ser460=)
c.-55+1814C= (n.-55+1814C=)
4g.125317791C>GCA358117774FAT4c.1380C>G (p.Ser460Arg)
c.-55+1814C>G (n.-55+1814C>G)
4g.125317791C>TCA3071980FAT4c.1380C>T (p.Ser460=)
c.-55+1814C>T (n.-55+1814C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
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)

Number of alleles fetched