Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.80202341_80202436dupCA2671177874PRDM8c.879_974dup (p.Gly325_Gly326insGlyHisGlnGluAlaGluLeuSerProAspGlyIleAlaThrGlyGlyGlyLysGlyLysArgLysPheProGluGluAlaAlaGluGlyGlyGly)
c.882_977dup (p.Gly326_Gly327insGlyHisGlnGluAlaGluLeuSerProAspGlyIleAlaThrGlyGlyGlyLysGlyLysArgLysPheProGluGluAlaAlaGluGlyGlyGly)
c.1722_1817dup (p.Gly606_Gly607insGlyHisGlnGluAlaGluLeuSerProAspGlyIleAlaThrGlyGlyGlyLysGlyLysArgLysPheProGluGluAlaAlaGluGlyGlyGly)
c.1719_1814dup (p.Gly605_Gly606insGlyHisGlnGluAlaGluLeuSerProAspGlyIleAlaThrGlyGlyGlyLysGlyLysArgLysPheProGluGluAlaAlaGluGlyGlyGly)
c.1581_1676dup (p.Gly559_Gly560insGlyHisGlnGluAlaGluLeuSerProAspGlyIleAlaThrGlyGlyGlyLysGlyLysArgLysPheProGluGluAlaAlaGluGlyGlyGly)
c.1434_1529dup (p.Gly510_Gly511insGlyHisGlnGluAlaGluLeuSerProAspGlyIleAlaThrGlyGlyGlyLysGlyLysArgLysPheProGluGluAlaAlaGluGlyGlyGly)
c.1296_1391dup (p.Gly464_Gly465insGlyHisGlnGluAlaGluLeuSerProAspGlyIleAlaThrGlyGlyGlyLysGlyLysArgLysPheProGluGluAlaAlaGluGlyGlyGly)
c.1275_1370dup (p.Gly457_Gly458insGlyHisGlnGluAlaGluLeuSerProAspGlyIleAlaThrGlyGlyGlyLysGlyLysArgLysPheProGluGluAlaAlaGluGlyGlyGly)
c.1431_1526dup (p.Gly509_Gly510insGlyHisGlnGluAlaGluLeuSerProAspGlyIleAlaThrGlyGlyGlyLysGlyLysArgLysPheProGluGluAlaAlaGluGlyGlyGly)
c.1518_1613dup (p.Gly538_Gly539insGlyHisGlnGluAlaGluLeuSerProAspGlyIleAlaThrGlyGlyGlyLysGlyLysArgLysPheProGluGluAlaAlaGluGlyGlyGly)
gnomAD v4
4g.80202396G>ACA357396953PRDM8c.934G>A (p.Gly312Arg)
c.937G>A (p.Gly313Arg)
c.1777G>A (p.Gly593Arg)
c.1774G>A (p.Gly592Arg)
c.1636G>A (p.Gly546Arg)
c.1489G>A (p.Gly497Arg)
c.1351G>A (p.Gly451Arg)
c.1330G>A (p.Gly444Arg)
c.1486G>A (p.Gly496Arg)
c.1573G>A (p.Gly525Arg)
dbSNP gnomAD v4
4g.80202396G>CCA357396942PRDM8c.934G>C (p.Gly312Arg)
c.937G>C (p.Gly313Arg)
c.1777G>C (p.Gly593Arg)
c.1774G>C (p.Gly592Arg)
c.1636G>C (p.Gly546Arg)
c.1489G>C (p.Gly497Arg)
c.1351G>C (p.Gly451Arg)
c.1330G>C (p.Gly444Arg)
c.1486G>C (p.Gly496Arg)
c.1573G>C (p.Gly525Arg)
4g.80202396G=CA1471293026PRDM8c.934G= (p.Gly312=)
c.937G= (p.Gly313=)
c.1777G= (p.Gly593=)
c.1774G= (p.Gly592=)
c.1636G= (p.Gly546=)
c.1489G= (p.Gly497=)
c.1351G= (p.Gly451=)
c.1330G= (p.Gly444=)
c.1486G= (p.Gly496=)
c.1573G= (p.Gly525=)
4g.80202396G>TCA357396949PRDM8c.934G>T (p.Gly312Ter)
c.937G>T (p.Gly313Ter)
c.1777G>T (p.Gly593Ter)
c.1774G>T (p.Gly592Ter)
c.1636G>T (p.Gly546Ter)
c.1489G>T (p.Gly497Ter)
c.1351G>T (p.Gly451Ter)
c.1330G>T (p.Gly444Ter)
c.1486G>T (p.Gly496Ter)
c.1573G>T (p.Gly525Ter)
4g.80202397G>ACA2982360PRDM8c.935G>A (p.Gly312Glu)
c.938G>A (p.Gly313Glu)
c.1778G>A (p.Gly593Glu)
c.1775G>A (p.Gly592Glu)
c.1637G>A (p.Gly546Glu)
c.1490G>A (p.Gly497Glu)
c.1352G>A (p.Gly451Glu)
c.1331G>A (p.Gly444Glu)
c.1487G>A (p.Gly496Glu)
c.1574G>A (p.Gly525Glu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.80202397G>CCA2982359PRDM8c.935G>C (p.Gly312Ala)
c.938G>C (p.Gly313Ala)
c.1778G>C (p.Gly593Ala)
c.1775G>C (p.Gly592Ala)
c.1637G>C (p.Gly546Ala)
c.1490G>C (p.Gly497Ala)
c.1352G>C (p.Gly451Ala)
c.1331G>C (p.Gly444Ala)
c.1487G>C (p.Gly496Ala)
c.1574G>C (p.Gly525Ala)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.80202397G=CA1471293030PRDM8c.935G= (p.Gly312=)
c.938G= (p.Gly313=)
c.1778G= (p.Gly593=)
c.1775G= (p.Gly592=)
c.1637G= (p.Gly546=)
c.1490G= (p.Gly497=)
c.1352G= (p.Gly451=)
c.1331G= (p.Gly444=)
c.1487G= (p.Gly496=)
c.1574G= (p.Gly525=)
4g.80202397G>TCA357396988PRDM8c.935G>T (p.Gly312Val)
c.938G>T (p.Gly313Val)
c.1778G>T (p.Gly593Val)
c.1775G>T (p.Gly592Val)
c.1637G>T (p.Gly546Val)
c.1490G>T (p.Gly497Val)
c.1352G>T (p.Gly451Val)
c.1331G>T (p.Gly444Val)
c.1487G>T (p.Gly496Val)
c.1574G>T (p.Gly525Val)
4g.80202398A>CCA440226764PRDM8c.936A>C (p.Gly312=)
c.939A>C (p.Gly313=)
c.1779A>C (p.Gly593=)
c.1776A>C (p.Gly592=)
c.1638A>C (p.Gly546=)
c.1491A>C (p.Gly497=)
c.1353A>C (p.Gly451=)
c.1332A>C (p.Gly444=)
c.1488A>C (p.Gly496=)
c.1575A>C (p.Gly525=)
4g.80202398A>GCA440226767PRDM8c.936A>G (p.Gly312=)
c.939A>G (p.Gly313=)
c.1779A>G (p.Gly593=)
c.1776A>G (p.Gly592=)
c.1638A>G (p.Gly546=)
c.1491A>G (p.Gly497=)
c.1353A>G (p.Gly451=)
c.1332A>G (p.Gly444=)
c.1488A>G (p.Gly496=)
c.1575A>G (p.Gly525=)
4g.80202398A>TCA440226769PRDM8c.936A>T (p.Gly312=)
c.939A>T (p.Gly313=)
c.1779A>T (p.Gly593=)
c.1776A>T (p.Gly592=)
c.1638A>T (p.Gly546=)
c.1491A>T (p.Gly497=)
c.1353A>T (p.Gly451=)
c.1332A>T (p.Gly444=)
c.1488A>T (p.Gly496=)
c.1575A>T (p.Gly525=)
4g.80202399A>CCA357396992PRDM8c.937A>C (p.Lys313Gln)
c.940A>C (p.Lys314Gln)
c.1780A>C (p.Lys594Gln)
c.1777A>C (p.Lys593Gln)
c.1639A>C (p.Lys547Gln)
c.1492A>C (p.Lys498Gln)
c.1354A>C (p.Lys452Gln)
c.1333A>C (p.Lys445Gln)
c.1489A>C (p.Lys497Gln)
c.1576A>C (p.Lys526Gln)
4g.80202399A>GCA357396995PRDM8c.937A>G (p.Lys313Glu)
c.940A>G (p.Lys314Glu)
c.1780A>G (p.Lys594Glu)
c.1777A>G (p.Lys593Glu)
c.1639A>G (p.Lys547Glu)
c.1492A>G (p.Lys498Glu)
c.1354A>G (p.Lys452Glu)
c.1333A>G (p.Lys445Glu)
c.1489A>G (p.Lys497Glu)
c.1576A>G (p.Lys526Glu)
gnomAD v4
4g.80202399A>TCA357396998PRDM8c.937A>T (p.Lys313Ter)
c.940A>T (p.Lys314Ter)
c.1780A>T (p.Lys594Ter)
c.1777A>T (p.Lys593Ter)
c.1639A>T (p.Lys547Ter)
c.1492A>T (p.Lys498Ter)
c.1354A>T (p.Lys452Ter)
c.1333A>T (p.Lys445Ter)
c.1489A>T (p.Lys497Ter)
c.1576A>T (p.Lys526Ter)
4g.80202400A>CCA357397006PRDM8c.938A>C (p.Lys313Thr)
c.941A>C (p.Lys314Thr)
c.1781A>C (p.Lys594Thr)
c.1778A>C (p.Lys593Thr)
c.1640A>C (p.Lys547Thr)
c.1493A>C (p.Lys498Thr)
c.1355A>C (p.Lys452Thr)
c.1334A>C (p.Lys445Thr)
c.1490A>C (p.Lys497Thr)
c.1577A>C (p.Lys526Thr)
4g.80202400A>GCA357397021PRDM8c.938A>G (p.Lys313Arg)
c.941A>G (p.Lys314Arg)
c.1781A>G (p.Lys594Arg)
c.1778A>G (p.Lys593Arg)
c.1640A>G (p.Lys547Arg)
c.1493A>G (p.Lys498Arg)
c.1355A>G (p.Lys452Arg)
c.1334A>G (p.Lys445Arg)
c.1490A>G (p.Lys497Arg)
c.1577A>G (p.Lys526Arg)
gnomAD v4
4g.80202400A>TCA357397026PRDM8c.938A>T (p.Lys313Met)
c.941A>T (p.Lys314Met)
c.1781A>T (p.Lys594Met)
c.1778A>T (p.Lys593Met)
c.1640A>T (p.Lys547Met)
c.1493A>T (p.Lys498Met)
c.1355A>T (p.Lys452Met)
c.1334A>T (p.Lys445Met)
c.1490A>T (p.Lys497Met)
c.1577A>T (p.Lys526Met)
4g.80202401G>ACA440226774PRDM8c.939G>A (p.Lys313=)
c.942G>A (p.Lys314=)
c.1782G>A (p.Lys594=)
c.1779G>A (p.Lys593=)
c.1641G>A (p.Lys547=)
c.1494G>A (p.Lys498=)
c.1356G>A (p.Lys452=)
c.1335G>A (p.Lys445=)
c.1491G>A (p.Lys497=)
c.1578G>A (p.Lys526=)
dbSNP gnomAD v2 gnomAD v4
4g.80202401G>CCA357397039PRDM8c.939G>C (p.Lys313Asn)
c.942G>C (p.Lys314Asn)
c.1782G>C (p.Lys594Asn)
c.1779G>C (p.Lys593Asn)
c.1641G>C (p.Lys547Asn)
c.1494G>C (p.Lys498Asn)
c.1356G>C (p.Lys452Asn)
c.1335G>C (p.Lys445Asn)
c.1491G>C (p.Lys497Asn)
c.1578G>C (p.Lys526Asn)
gnomAD v4
4g.80202401G=CA1471293034PRDM8c.939G= (p.Lys313=)
c.942G= (p.Lys314=)
c.1782G= (p.Lys594=)
c.1779G= (p.Lys593=)
c.1641G= (p.Lys547=)
c.1494G= (p.Lys498=)
c.1356G= (p.Lys452=)
c.1335G= (p.Lys445=)
c.1491G= (p.Lys497=)
c.1578G= (p.Lys526=)
4g.80202401G>TCA357397044PRDM8c.939G>T (p.Lys313Asn)
c.942G>T (p.Lys314Asn)
c.1782G>T (p.Lys594Asn)
c.1779G>T (p.Lys593Asn)
c.1641G>T (p.Lys547Asn)
c.1494G>T (p.Lys498Asn)
c.1356G>T (p.Lys452Asn)
c.1335G>T (p.Lys445Asn)
c.1491G>T (p.Lys497Asn)
c.1578G>T (p.Lys526Asn)
gnomAD v4
4g.80202402A=CA1471293038PRDM8c.940A= (p.Arg314=)
c.943A= (p.Arg315=)
c.1783A= (p.Arg595=)
c.1780A= (p.Arg594=)
c.1642A= (p.Arg548=)
c.1495A= (p.Arg499=)
c.1357A= (p.Arg453=)
c.1336A= (p.Arg446=)
c.1492A= (p.Arg498=)
c.1579A= (p.Arg527=)
4g.80202402A>CCA440226776PRDM8c.940A>C (p.Arg314=)
c.943A>C (p.Arg315=)
c.1783A>C (p.Arg595=)
c.1780A>C (p.Arg594=)
c.1642A>C (p.Arg548=)
c.1495A>C (p.Arg499=)
c.1357A>C (p.Arg453=)
c.1336A>C (p.Arg446=)
c.1492A>C (p.Arg498=)
c.1579A>C (p.Arg527=)
4g.80202402A>GCA357397045PRDM8c.940A>G (p.Arg314Gly)
c.943A>G (p.Arg315Gly)
c.1783A>G (p.Arg595Gly)
c.1780A>G (p.Arg594Gly)
c.1642A>G (p.Arg548Gly)
c.1495A>G (p.Arg499Gly)
c.1357A>G (p.Arg453Gly)
c.1336A>G (p.Arg446Gly)
c.1492A>G (p.Arg498Gly)
c.1579A>G (p.Arg527Gly)
dbSNP gnomAD v3 gnomAD v4
4g.80202402A>TCA2982361PRDM8c.940A>T (p.Arg314Trp)
c.943A>T (p.Arg315Trp)
c.1783A>T (p.Arg595Trp)
c.1780A>T (p.Arg594Trp)
c.1642A>T (p.Arg548Trp)
c.1495A>T (p.Arg499Trp)
c.1357A>T (p.Arg453Trp)
c.1336A>T (p.Arg446Trp)
c.1492A>T (p.Arg498Trp)
c.1579A>T (p.Arg527Trp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.80202403G>ACA357397046PRDM8c.941G>A (p.Arg314Lys)
c.944G>A (p.Arg315Lys)
c.1784G>A (p.Arg595Lys)
c.1781G>A (p.Arg594Lys)
c.1643G>A (p.Arg548Lys)
c.1496G>A (p.Arg499Lys)
c.1358G>A (p.Arg453Lys)
c.1337G>A (p.Arg446Lys)
c.1493G>A (p.Arg498Lys)
c.1580G>A (p.Arg527Lys)
dbSNP gnomAD v2 gnomAD v4
4g.80202403G>CCA357397052PRDM8c.941G>C (p.Arg314Thr)
c.944G>C (p.Arg315Thr)
c.1784G>C (p.Arg595Thr)
c.1781G>C (p.Arg594Thr)
c.1643G>C (p.Arg548Thr)
c.1496G>C (p.Arg499Thr)
c.1358G>C (p.Arg453Thr)
c.1337G>C (p.Arg446Thr)
c.1493G>C (p.Arg498Thr)
c.1580G>C (p.Arg527Thr)
4g.80202403G=CA1471293042PRDM8c.941G= (p.Arg314=)
c.944G= (p.Arg315=)
c.1784G= (p.Arg595=)
c.1781G= (p.Arg594=)
c.1643G= (p.Arg548=)
c.1496G= (p.Arg499=)
c.1358G= (p.Arg453=)
c.1337G= (p.Arg446=)
c.1493G= (p.Arg498=)
c.1580G= (p.Arg527=)
4g.80202403G>TCA357397050PRDM8c.941G>T (p.Arg314Met)
c.944G>T (p.Arg315Met)
c.1784G>T (p.Arg595Met)
c.1781G>T (p.Arg594Met)
c.1643G>T (p.Arg548Met)
c.1496G>T (p.Arg499Met)
c.1358G>T (p.Arg453Met)
c.1337G>T (p.Arg446Met)
c.1493G>T (p.Arg498Met)
c.1580G>T (p.Arg527Met)
gnomAD v4
4g.80202404G>ACA440226779PRDM8c.942G>A (p.Arg314=)
c.945G>A (p.Arg315=)
c.1785G>A (p.Arg595=)
c.1782G>A (p.Arg594=)
c.1644G>A (p.Arg548=)
c.1497G>A (p.Arg499=)
c.1359G>A (p.Arg453=)
c.1338G>A (p.Arg446=)
c.1494G>A (p.Arg498=)
c.1581G>A (p.Arg527=)
dbSNP gnomAD v4
4g.80202404G>CCA357397055PRDM8c.942G>C (p.Arg314Ser)
c.945G>C (p.Arg315Ser)
c.1785G>C (p.Arg595Ser)
c.1782G>C (p.Arg594Ser)
c.1644G>C (p.Arg548Ser)
c.1497G>C (p.Arg499Ser)
c.1359G>C (p.Arg453Ser)
c.1338G>C (p.Arg446Ser)
c.1494G>C (p.Arg498Ser)
c.1581G>C (p.Arg527Ser)
4g.80202404G=CA1471293044PRDM8c.942G= (p.Arg314=)
c.945G= (p.Arg315=)
c.1785G= (p.Arg595=)
c.1782G= (p.Arg594=)
c.1644G= (p.Arg548=)
c.1497G= (p.Arg499=)
c.1359G= (p.Arg453=)
c.1338G= (p.Arg446=)
c.1494G= (p.Arg498=)
c.1581G= (p.Arg527=)
4g.80202404G>TCA357397057PRDM8c.942G>T (p.Arg314Ser)
c.945G>T (p.Arg315Ser)
c.1785G>T (p.Arg595Ser)
c.1782G>T (p.Arg594Ser)
c.1644G>T (p.Arg548Ser)
c.1497G>T (p.Arg499Ser)
c.1359G>T (p.Arg453Ser)
c.1338G>T (p.Arg446Ser)
c.1494G>T (p.Arg498Ser)
c.1581G>T (p.Arg527Ser)
gnomAD v4
4g.80202405A>CCA357397061PRDM8c.943A>C (p.Lys315Gln)
c.946A>C (p.Lys316Gln)
c.1786A>C (p.Lys596Gln)
c.1783A>C (p.Lys595Gln)
c.1645A>C (p.Lys549Gln)
c.1498A>C (p.Lys500Gln)
c.1360A>C (p.Lys454Gln)
c.1339A>C (p.Lys447Gln)
c.1495A>C (p.Lys499Gln)
c.1582A>C (p.Lys528Gln)
4g.80202405A>GCA357397065PRDM8c.943A>G (p.Lys315Glu)
c.946A>G (p.Lys316Glu)
c.1786A>G (p.Lys596Glu)
c.1783A>G (p.Lys595Glu)
c.1645A>G (p.Lys549Glu)
c.1498A>G (p.Lys500Glu)
c.1360A>G (p.Lys454Glu)
c.1339A>G (p.Lys447Glu)
c.1495A>G (p.Lys499Glu)
c.1582A>G (p.Lys528Glu)
4g.80202405A>TCA357397067PRDM8c.943A>T (p.Lys315Ter)
c.946A>T (p.Lys316Ter)
c.1786A>T (p.Lys596Ter)
c.1783A>T (p.Lys595Ter)
c.1645A>T (p.Lys549Ter)
c.1498A>T (p.Lys500Ter)
c.1360A>T (p.Lys454Ter)
c.1339A>T (p.Lys447Ter)
c.1495A>T (p.Lys499Ter)
c.1582A>T (p.Lys528Ter)
4g.80202406A>CCA357397070PRDM8c.944A>C (p.Lys315Thr)
c.947A>C (p.Lys316Thr)
c.1787A>C (p.Lys596Thr)
c.1784A>C (p.Lys595Thr)
c.1646A>C (p.Lys549Thr)
c.1499A>C (p.Lys500Thr)
c.1361A>C (p.Lys454Thr)
c.1340A>C (p.Lys447Thr)
c.1496A>C (p.Lys499Thr)
c.1583A>C (p.Lys528Thr)
4g.80202406A>GCA357397074PRDM8c.944A>G (p.Lys315Arg)
c.947A>G (p.Lys316Arg)
c.1787A>G (p.Lys596Arg)
c.1784A>G (p.Lys595Arg)
c.1646A>G (p.Lys549Arg)
c.1499A>G (p.Lys500Arg)
c.1361A>G (p.Lys454Arg)
c.1340A>G (p.Lys447Arg)
c.1496A>G (p.Lys499Arg)
c.1583A>G (p.Lys528Arg)
4g.80202406A>TCA357397077PRDM8c.944A>T (p.Lys315Ile)
c.947A>T (p.Lys316Ile)
c.1787A>T (p.Lys596Ile)
c.1784A>T (p.Lys595Ile)
c.1646A>T (p.Lys549Ile)
c.1499A>T (p.Lys500Ile)
c.1361A>T (p.Lys454Ile)
c.1340A>T (p.Lys447Ile)
c.1496A>T (p.Lys499Ile)
c.1583A>T (p.Lys528Ile)
4g.80202407A>CCA357397085PRDM8c.945A>C (p.Lys315Asn)
c.948A>C (p.Lys316Asn)
c.1788A>C (p.Lys596Asn)
c.1785A>C (p.Lys595Asn)
c.1647A>C (p.Lys549Asn)
c.1500A>C (p.Lys500Asn)
c.1362A>C (p.Lys454Asn)
c.1341A>C (p.Lys447Asn)
c.1497A>C (p.Lys499Asn)
c.1584A>C (p.Lys528Asn)
4g.80202407A>GCA440226782PRDM8c.945A>G (p.Lys315=)
c.948A>G (p.Lys316=)
c.1788A>G (p.Lys596=)
c.1785A>G (p.Lys595=)
c.1647A>G (p.Lys549=)
c.1500A>G (p.Lys500=)
c.1362A>G (p.Lys454=)
c.1341A>G (p.Lys447=)
c.1497A>G (p.Lys499=)
c.1584A>G (p.Lys528=)
ClinVar
4g.80202407A>TCA357397090PRDM8c.945A>T (p.Lys315Asn)
c.948A>T (p.Lys316Asn)
c.1788A>T (p.Lys596Asn)
c.1785A>T (p.Lys595Asn)
c.1647A>T (p.Lys549Asn)
c.1500A>T (p.Lys500Asn)
c.1362A>T (p.Lys454Asn)
c.1341A>T (p.Lys447Asn)
c.1497A>T (p.Lys499Asn)
c.1584A>T (p.Lys528Asn)
4g.80202408T>ACA357397094PRDM8c.946T>A (p.Phe316Ile)
c.949T>A (p.Phe317Ile)
c.1789T>A (p.Phe597Ile)
c.1786T>A (p.Phe596Ile)
c.1648T>A (p.Phe550Ile)
c.1501T>A (p.Phe501Ile)
c.1363T>A (p.Phe455Ile)
c.1342T>A (p.Phe448Ile)
c.1498T>A (p.Phe500Ile)
c.1585T>A (p.Phe529Ile)
4g.80202408T>CCA357397097PRDM8c.946T>C (p.Phe316Leu)
c.949T>C (p.Phe317Leu)
c.1789T>C (p.Phe597Leu)
c.1786T>C (p.Phe596Leu)
c.1648T>C (p.Phe550Leu)
c.1501T>C (p.Phe501Leu)
c.1363T>C (p.Phe455Leu)
c.1342T>C (p.Phe448Leu)
c.1498T>C (p.Phe500Leu)
c.1585T>C (p.Phe529Leu)
4g.80202408T>GCA357397101PRDM8c.946T>G (p.Phe316Val)
c.949T>G (p.Phe317Val)
c.1789T>G (p.Phe597Val)
c.1786T>G (p.Phe596Val)
c.1648T>G (p.Phe550Val)
c.1501T>G (p.Phe501Val)
c.1363T>G (p.Phe455Val)
c.1342T>G (p.Phe448Val)
c.1498T>G (p.Phe500Val)
c.1585T>G (p.Phe529Val)
gnomAD v3 gnomAD v4
4g.80202409T>ACA357397142PRDM8c.947T>A (p.Phe316Tyr)
c.950T>A (p.Phe317Tyr)
c.1790T>A (p.Phe597Tyr)
c.1787T>A (p.Phe596Tyr)
c.1649T>A (p.Phe550Tyr)
c.1502T>A (p.Phe501Tyr)
c.1364T>A (p.Phe455Tyr)
c.1343T>A (p.Phe448Tyr)
c.1499T>A (p.Phe500Tyr)
c.1586T>A (p.Phe529Tyr)
dbSNP
4g.80202409T>CCA357397131PRDM8c.947T>C (p.Phe316Ser)
c.950T>C (p.Phe317Ser)
c.1790T>C (p.Phe597Ser)
c.1787T>C (p.Phe596Ser)
c.1649T>C (p.Phe550Ser)
c.1502T>C (p.Phe501Ser)
c.1364T>C (p.Phe455Ser)
c.1343T>C (p.Phe448Ser)
c.1499T>C (p.Phe500Ser)
c.1586T>C (p.Phe529Ser)
4g.80202409T>GCA357397132PRDM8c.947T>G (p.Phe316Cys)
c.950T>G (p.Phe317Cys)
c.1790T>G (p.Phe597Cys)
c.1787T>G (p.Phe596Cys)
c.1649T>G (p.Phe550Cys)
c.1502T>G (p.Phe501Cys)
c.1364T>G (p.Phe455Cys)
c.1343T>G (p.Phe448Cys)
c.1499T>G (p.Phe500Cys)
c.1586T>G (p.Phe529Cys)
4g.80202409T=CA1471293046PRDM8c.947T= (p.Phe316=)
c.950T= (p.Phe317=)
c.1790T= (p.Phe597=)
c.1787T= (p.Phe596=)
c.1649T= (p.Phe550=)
c.1502T= (p.Phe501=)
c.1364T= (p.Phe455=)
c.1343T= (p.Phe448=)
c.1499T= (p.Phe500=)
c.1586T= (p.Phe529=)
4g.80202410C>ACA357397145PRDM8c.948C>A (p.Phe316Leu)
c.951C>A (p.Phe317Leu)
c.1791C>A (p.Phe597Leu)
c.1788C>A (p.Phe596Leu)
c.1650C>A (p.Phe550Leu)
c.1503C>A (p.Phe501Leu)
c.1365C>A (p.Phe455Leu)
c.1344C>A (p.Phe448Leu)
c.1500C>A (p.Phe500Leu)
c.1587C>A (p.Phe529Leu)
gnomAD v4
4g.80202410C>GCA357397146PRDM8c.948C>G (p.Phe316Leu)
c.951C>G (p.Phe317Leu)
c.1791C>G (p.Phe597Leu)
c.1788C>G (p.Phe596Leu)
c.1650C>G (p.Phe550Leu)
c.1503C>G (p.Phe501Leu)
c.1365C>G (p.Phe455Leu)
c.1344C>G (p.Phe448Leu)
c.1500C>G (p.Phe500Leu)
c.1587C>G (p.Phe529Leu)
4g.80202410C>TCA440226784PRDM8c.948C>T (p.Phe316=)
c.951C>T (p.Phe317=)
c.1791C>T (p.Phe597=)
c.1788C>T (p.Phe596=)
c.1650C>T (p.Phe550=)
c.1503C>T (p.Phe501=)
c.1365C>T (p.Phe455=)
c.1344C>T (p.Phe448=)
c.1500C>T (p.Phe500=)
c.1587C>T (p.Phe529=)
4g.80202411C>ACA357397147PRDM8c.949C>A (p.Pro317Thr)
c.952C>A (p.Pro318Thr)
c.1792C>A (p.Pro598Thr)
c.1789C>A (p.Pro597Thr)
c.1651C>A (p.Pro551Thr)
c.1504C>A (p.Pro502Thr)
c.1366C>A (p.Pro456Thr)
c.1345C>A (p.Pro449Thr)
c.1501C>A (p.Pro501Thr)
c.1588C>A (p.Pro530Thr)
gnomAD v4
4g.80202411C>GCA357397148PRDM8c.949C>G (p.Pro317Ala)
c.952C>G (p.Pro318Ala)
c.1792C>G (p.Pro598Ala)
c.1789C>G (p.Pro597Ala)
c.1651C>G (p.Pro551Ala)
c.1504C>G (p.Pro502Ala)
c.1366C>G (p.Pro456Ala)
c.1345C>G (p.Pro449Ala)
c.1501C>G (p.Pro501Ala)
c.1588C>G (p.Pro530Ala)
4g.80202411C>TCA357397149PRDM8c.949C>T (p.Pro317Ser)
c.952C>T (p.Pro318Ser)
c.1792C>T (p.Pro598Ser)
c.1789C>T (p.Pro597Ser)
c.1651C>T (p.Pro551Ser)
c.1504C>T (p.Pro502Ser)
c.1366C>T (p.Pro456Ser)
c.1345C>T (p.Pro449Ser)
c.1501C>T (p.Pro501Ser)
c.1588C>T (p.Pro530Ser)
gnomAD v4
4g.80202412C>ACA357397153PRDM8c.950C>A (p.Pro317Gln)
c.953C>A (p.Pro318Gln)
c.1793C>A (p.Pro598Gln)
c.1790C>A (p.Pro597Gln)
c.1652C>A (p.Pro551Gln)
c.1505C>A (p.Pro502Gln)
c.1367C>A (p.Pro456Gln)
c.1346C>A (p.Pro449Gln)
c.1502C>A (p.Pro501Gln)
c.1589C>A (p.Pro530Gln)
gnomAD v4
4g.80202412C>GCA357397154PRDM8c.950C>G (p.Pro317Arg)
c.953C>G (p.Pro318Arg)
c.1793C>G (p.Pro598Arg)
c.1790C>G (p.Pro597Arg)
c.1652C>G (p.Pro551Arg)
c.1505C>G (p.Pro502Arg)
c.1367C>G (p.Pro456Arg)
c.1346C>G (p.Pro449Arg)
c.1502C>G (p.Pro501Arg)
c.1589C>G (p.Pro530Arg)
gnomAD v4
4g.80202412C>TCA357397155PRDM8c.950C>T (p.Pro317Leu)
c.953C>T (p.Pro318Leu)
c.1793C>T (p.Pro598Leu)
c.1790C>T (p.Pro597Leu)
c.1652C>T (p.Pro551Leu)
c.1505C>T (p.Pro502Leu)
c.1367C>T (p.Pro456Leu)
c.1346C>T (p.Pro449Leu)
c.1502C>T (p.Pro501Leu)
c.1589C>T (p.Pro530Leu)
gnomAD v4
4g.80202413G>ACA440226791PRDM8c.951G>A (p.Pro317=)
c.954G>A (p.Pro318=)
c.1794G>A (p.Pro598=)
c.1791G>A (p.Pro597=)
c.1653G>A (p.Pro551=)
c.1506G>A (p.Pro502=)
c.1368G>A (p.Pro456=)
c.1347G>A (p.Pro449=)
c.1503G>A (p.Pro501=)
c.1590G>A (p.Pro530=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
4g.80202413G>CCA440226792PRDM8c.951G>C (p.Pro317=)
c.954G>C (p.Pro318=)
c.1794G>C (p.Pro598=)
c.1791G>C (p.Pro597=)
c.1653G>C (p.Pro551=)
c.1506G>C (p.Pro502=)
c.1368G>C (p.Pro456=)
c.1347G>C (p.Pro449=)
c.1503G>C (p.Pro501=)
c.1590G>C (p.Pro530=)
ClinVar dbSNP gnomAD v4
4g.80202413G=CA1471293048PRDM8c.951G= (p.Pro317=)
c.954G= (p.Pro318=)
c.1794G= (p.Pro598=)
c.1791G= (p.Pro597=)
c.1653G= (p.Pro551=)
c.1506G= (p.Pro502=)
c.1368G= (p.Pro456=)
c.1347G= (p.Pro449=)
c.1503G= (p.Pro501=)
c.1590G= (p.Pro530=)
4g.80202413G>TCA440226793PRDM8c.951G>T (p.Pro317=)
c.954G>T (p.Pro318=)
c.1794G>T (p.Pro598=)
c.1791G>T (p.Pro597=)
c.1653G>T (p.Pro551=)
c.1506G>T (p.Pro502=)
c.1368G>T (p.Pro456=)
c.1347G>T (p.Pro449=)
c.1503G>T (p.Pro501=)
c.1590G>T (p.Pro530=)
gnomAD v4
4g.80202414G>ACA357397156PRDM8c.952G>A (p.Glu318Lys)
c.955G>A (p.Glu319Lys)
c.1795G>A (p.Glu599Lys)
c.1792G>A (p.Glu598Lys)
c.1654G>A (p.Glu552Lys)
c.1507G>A (p.Glu503Lys)
c.1369G>A (p.Glu457Lys)
c.1348G>A (p.Glu450Lys)
c.1504G>A (p.Glu502Lys)
c.1591G>A (p.Glu531Lys)
4g.80202414G>CCA357397160PRDM8c.952G>C (p.Glu318Gln)
c.955G>C (p.Glu319Gln)
c.1795G>C (p.Glu599Gln)
c.1792G>C (p.Glu598Gln)
c.1654G>C (p.Glu552Gln)
c.1507G>C (p.Glu503Gln)
c.1369G>C (p.Glu457Gln)
c.1348G>C (p.Glu450Gln)
c.1504G>C (p.Glu502Gln)
c.1591G>C (p.Glu531Gln)
4g.80202414G>TCA357397171PRDM8c.952G>T (p.Glu318Ter)
c.955G>T (p.Glu319Ter)
c.1795G>T (p.Glu599Ter)
c.1792G>T (p.Glu598Ter)
c.1654G>T (p.Glu552Ter)
c.1507G>T (p.Glu503Ter)
c.1369G>T (p.Glu457Ter)
c.1348G>T (p.Glu450Ter)
c.1504G>T (p.Glu502Ter)
c.1591G>T (p.Glu531Ter)
gnomAD v4
4g.80202415A=CA1471293051PRDM8c.953A= (p.Glu318=)
c.956A= (p.Glu319=)
c.1796A= (p.Glu599=)
c.1793A= (p.Glu598=)
c.1655A= (p.Glu552=)
c.1508A= (p.Glu503=)
c.1370A= (p.Glu457=)
c.1349A= (p.Glu450=)
c.1505A= (p.Glu502=)
c.1592A= (p.Glu531=)
4g.80202415A>CCA357397174PRDM8c.953A>C (p.Glu318Ala)
c.956A>C (p.Glu319Ala)
c.1796A>C (p.Glu599Ala)
c.1793A>C (p.Glu598Ala)
c.1655A>C (p.Glu552Ala)
c.1508A>C (p.Glu503Ala)
c.1370A>C (p.Glu457Ala)
c.1349A>C (p.Glu450Ala)
c.1505A>C (p.Glu502Ala)
c.1592A>C (p.Glu531Ala)
gnomAD v4
4g.80202415A>GCA2982362PRDM8c.953A>G (p.Glu318Gly)
c.956A>G (p.Glu319Gly)
c.1796A>G (p.Glu599Gly)
c.1793A>G (p.Glu598Gly)
c.1655A>G (p.Glu552Gly)
c.1508A>G (p.Glu503Gly)
c.1370A>G (p.Glu457Gly)
c.1349A>G (p.Glu450Gly)
c.1505A>G (p.Glu502Gly)
c.1592A>G (p.Glu531Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.80202415A>TCA357397185PRDM8c.953A>T (p.Glu318Val)
c.956A>T (p.Glu319Val)
c.1796A>T (p.Glu599Val)
c.1793A>T (p.Glu598Val)
c.1655A>T (p.Glu552Val)
c.1508A>T (p.Glu503Val)
c.1370A>T (p.Glu457Val)
c.1349A>T (p.Glu450Val)
c.1505A>T (p.Glu502Val)
c.1592A>T (p.Glu531Val)
4g.80202416G>ACA440226799PRDM8c.954G>A (p.Glu318=)
c.957G>A (p.Glu319=)
c.1797G>A (p.Glu599=)
c.1794G>A (p.Glu598=)
c.1656G>A (p.Glu552=)
c.1509G>A (p.Glu503=)
c.1371G>A (p.Glu457=)
c.1350G>A (p.Glu450=)
c.1506G>A (p.Glu502=)
c.1593G>A (p.Glu531=)
dbSNP gnomAD v2
4g.80202416G>CCA357397200PRDM8c.954G>C (p.Glu318Asp)
c.957G>C (p.Glu319Asp)
c.1797G>C (p.Glu599Asp)
c.1794G>C (p.Glu598Asp)
c.1656G>C (p.Glu552Asp)
c.1509G>C (p.Glu503Asp)
c.1371G>C (p.Glu457Asp)
c.1350G>C (p.Glu450Asp)
c.1506G>C (p.Glu502Asp)
c.1593G>C (p.Glu531Asp)
dbSNP gnomAD v4
4g.80202416G=CA1471293053PRDM8c.954G= (p.Glu318=)
c.957G= (p.Glu319=)
c.1797G= (p.Glu599=)
c.1794G= (p.Glu598=)
c.1656G= (p.Glu552=)
c.1509G= (p.Glu503=)
c.1371G= (p.Glu457=)
c.1350G= (p.Glu450=)
c.1506G= (p.Glu502=)
c.1593G= (p.Glu531=)
4g.80202416G>TCA357397206PRDM8c.954G>T (p.Glu318Asp)
c.957G>T (p.Glu319Asp)
c.1797G>T (p.Glu599Asp)
c.1794G>T (p.Glu598Asp)
c.1656G>T (p.Glu552Asp)
c.1509G>T (p.Glu503Asp)
c.1371G>T (p.Glu457Asp)
c.1350G>T (p.Glu450Asp)
c.1506G>T (p.Glu502Asp)
c.1593G>T (p.Glu531Asp)
COSMIC
4g.80202417G>ACA357397207PRDM8c.955G>A (p.Glu319Lys)
c.958G>A (p.Glu320Lys)
c.1798G>A (p.Glu600Lys)
c.1795G>A (p.Glu599Lys)
c.1657G>A (p.Glu553Lys)
c.1510G>A (p.Glu504Lys)
c.1372G>A (p.Glu458Lys)
c.1351G>A (p.Glu451Lys)
c.1507G>A (p.Glu503Lys)
c.1594G>A (p.Glu532Lys)
4g.80202417G>CCA357397209PRDM8c.955G>C (p.Glu319Gln)
c.958G>C (p.Glu320Gln)
c.1798G>C (p.Glu600Gln)
c.1795G>C (p.Glu599Gln)
c.1657G>C (p.Glu553Gln)
c.1510G>C (p.Glu504Gln)
c.1372G>C (p.Glu458Gln)
c.1351G>C (p.Glu451Gln)
c.1507G>C (p.Glu503Gln)
c.1594G>C (p.Glu532Gln)
4g.80202417G>TCA357397208PRDM8c.955G>T (p.Glu319Ter)
c.958G>T (p.Glu320Ter)
c.1798G>T (p.Glu600Ter)
c.1795G>T (p.Glu599Ter)
c.1657G>T (p.Glu553Ter)
c.1510G>T (p.Glu504Ter)
c.1372G>T (p.Glu458Ter)
c.1351G>T (p.Glu451Ter)
c.1507G>T (p.Glu503Ter)
c.1594G>T (p.Glu532Ter)
4g.80202418A=CA1471293055PRDM8c.956A= (p.Glu319=)
c.959A= (p.Glu320=)
c.1799A= (p.Glu600=)
c.1796A= (p.Glu599=)
c.1658A= (p.Glu553=)
c.1511A= (p.Glu504=)
c.1373A= (p.Glu458=)
c.1352A= (p.Glu451=)
c.1508A= (p.Glu503=)
c.1595A= (p.Glu532=)
4g.80202418A>CCA357397212PRDM8c.956A>C (p.Glu319Ala)
c.959A>C (p.Glu320Ala)
c.1799A>C (p.Glu600Ala)
c.1796A>C (p.Glu599Ala)
c.1658A>C (p.Glu553Ala)
c.1511A>C (p.Glu504Ala)
c.1373A>C (p.Glu458Ala)
c.1352A>C (p.Glu451Ala)
c.1508A>C (p.Glu503Ala)
c.1595A>C (p.Glu532Ala)
ClinVar dbSNP gnomAD v2 gnomAD v4
4g.80202418A>GCA357397215PRDM8c.956A>G (p.Glu319Gly)
c.959A>G (p.Glu320Gly)
c.1799A>G (p.Glu600Gly)
c.1796A>G (p.Glu599Gly)
c.1658A>G (p.Glu553Gly)
c.1511A>G (p.Glu504Gly)
c.1373A>G (p.Glu458Gly)
c.1352A>G (p.Glu451Gly)
c.1508A>G (p.Glu503Gly)
c.1595A>G (p.Glu532Gly)
4g.80202418A>TCA357397216PRDM8c.956A>T (p.Glu319Val)
c.959A>T (p.Glu320Val)
c.1799A>T (p.Glu600Val)
c.1796A>T (p.Glu599Val)
c.1658A>T (p.Glu553Val)
c.1511A>T (p.Glu504Val)
c.1373A>T (p.Glu458Val)
c.1352A>T (p.Glu451Val)
c.1508A>T (p.Glu503Val)
c.1595A>T (p.Glu532Val)
4g.80202419G>ACA440226804PRDM8c.957G>A (p.Glu319=)
c.960G>A (p.Glu320=)
c.1800G>A (p.Glu600=)
c.1797G>A (p.Glu599=)
c.1659G>A (p.Glu553=)
c.1512G>A (p.Glu504=)
c.1374G>A (p.Glu458=)
c.1353G>A (p.Glu451=)
c.1509G>A (p.Glu503=)
c.1596G>A (p.Glu532=)
gnomAD v4
4g.80202419G>CCA357397217PRDM8c.957G>C (p.Glu319Asp)
c.960G>C (p.Glu320Asp)
c.1800G>C (p.Glu600Asp)
c.1797G>C (p.Glu599Asp)
c.1659G>C (p.Glu553Asp)
c.1512G>C (p.Glu504Asp)
c.1374G>C (p.Glu458Asp)
c.1353G>C (p.Glu451Asp)
c.1509G>C (p.Glu503Asp)
c.1596G>C (p.Glu532Asp)
4g.80202419G>TCA357397219PRDM8c.957G>T (p.Glu319Asp)
c.960G>T (p.Glu320Asp)
c.1800G>T (p.Glu600Asp)
c.1797G>T (p.Glu599Asp)
c.1659G>T (p.Glu553Asp)
c.1512G>T (p.Glu504Asp)
c.1374G>T (p.Glu458Asp)
c.1353G>T (p.Glu451Asp)
c.1509G>T (p.Glu503Asp)
c.1596G>T (p.Glu532Asp)
4g.80202420G>ACA357397226PRDM8c.958G>A (p.Ala320Thr)
c.961G>A (p.Ala321Thr)
c.1801G>A (p.Ala601Thr)
c.1798G>A (p.Ala600Thr)
c.1660G>A (p.Ala554Thr)
c.1513G>A (p.Ala505Thr)
c.1375G>A (p.Ala459Thr)
c.1354G>A (p.Ala452Thr)
c.1510G>A (p.Ala504Thr)
c.1597G>A (p.Ala533Thr)
dbSNP gnomAD v2 gnomAD v4
4g.80202420G>CCA357397232PRDM8c.958G>C (p.Ala320Pro)
c.961G>C (p.Ala321Pro)
c.1801G>C (p.Ala601Pro)
c.1798G>C (p.Ala600Pro)
c.1660G>C (p.Ala554Pro)
c.1513G>C (p.Ala505Pro)
c.1375G>C (p.Ala459Pro)
c.1354G>C (p.Ala452Pro)
c.1510G>C (p.Ala504Pro)
c.1597G>C (p.Ala533Pro)
4g.80202420G=CA1471293059PRDM8c.958G= (p.Ala320=)
c.961G= (p.Ala321=)
c.1801G= (p.Ala601=)
c.1798G= (p.Ala600=)
c.1660G= (p.Ala554=)
c.1513G= (p.Ala505=)
c.1375G= (p.Ala459=)
c.1354G= (p.Ala452=)
c.1510G= (p.Ala504=)
c.1597G= (p.Ala533=)
4g.80202420G>TCA357397239PRDM8c.958G>T (p.Ala320Ser)
c.961G>T (p.Ala321Ser)
c.1801G>T (p.Ala601Ser)
c.1798G>T (p.Ala600Ser)
c.1660G>T (p.Ala554Ser)
c.1513G>T (p.Ala505Ser)
c.1375G>T (p.Ala459Ser)
c.1354G>T (p.Ala452Ser)
c.1510G>T (p.Ala504Ser)
c.1597G>T (p.Ala533Ser)
4g.80202421C>ACA357397243PRDM8c.959C>A (p.Ala320Glu)
c.962C>A (p.Ala321Glu)
c.1802C>A (p.Ala601Glu)
c.1799C>A (p.Ala600Glu)
c.1661C>A (p.Ala554Glu)
c.1514C>A (p.Ala505Glu)
c.1376C>A (p.Ala459Glu)
c.1355C>A (p.Ala452Glu)
c.1511C>A (p.Ala504Glu)
c.1598C>A (p.Ala533Glu)
gnomAD v4
4g.80202421C=CA1471293063PRDM8c.959C= (p.Ala320=)
c.962C= (p.Ala321=)
c.1802C= (p.Ala601=)
c.1799C= (p.Ala600=)
c.1661C= (p.Ala554=)
c.1514C= (p.Ala505=)
c.1376C= (p.Ala459=)
c.1355C= (p.Ala452=)
c.1511C= (p.Ala504=)
c.1598C= (p.Ala533=)
4g.80202421C>GCA357397244PRDM8c.959C>G (p.Ala320Gly)
c.962C>G (p.Ala321Gly)
c.1802C>G (p.Ala601Gly)
c.1799C>G (p.Ala600Gly)
c.1661C>G (p.Ala554Gly)
c.1514C>G (p.Ala505Gly)
c.1376C>G (p.Ala459Gly)
c.1355C>G (p.Ala452Gly)
c.1511C>G (p.Ala504Gly)
c.1598C>G (p.Ala533Gly)
4g.80202421C>TCA357397245PRDM8c.959C>T (p.Ala320Val)
c.962C>T (p.Ala321Val)
c.1802C>T (p.Ala601Val)
c.1799C>T (p.Ala600Val)
c.1661C>T (p.Ala554Val)
c.1514C>T (p.Ala505Val)
c.1376C>T (p.Ala459Val)
c.1355C>T (p.Ala452Val)
c.1511C>T (p.Ala504Val)
c.1598C>T (p.Ala533Val)
dbSNP gnomAD v3 gnomAD v4
4g.80202422G>ACA440226807PRDM8c.960G>A (p.Ala320=)
c.963G>A (p.Ala321=)
c.1803G>A (p.Ala601=)
c.1800G>A (p.Ala600=)
c.1662G>A (p.Ala554=)
c.1515G>A (p.Ala505=)
c.1377G>A (p.Ala459=)
c.1356G>A (p.Ala452=)
c.1512G>A (p.Ala504=)
c.1599G>A (p.Ala533=)
dbSNP gnomAD v2 gnomAD v4
4g.80202422G>CCA440226808PRDM8c.960G>C (p.Ala320=)
c.963G>C (p.Ala321=)
c.1803G>C (p.Ala601=)
c.1800G>C (p.Ala600=)
c.1662G>C (p.Ala554=)
c.1515G>C (p.Ala505=)
c.1377G>C (p.Ala459=)
c.1356G>C (p.Ala452=)
c.1512G>C (p.Ala504=)
c.1599G>C (p.Ala533=)
4g.80202422G=CA1471293066PRDM8c.960G= (p.Ala320=)
c.963G= (p.Ala321=)
c.1803G= (p.Ala601=)
c.1800G= (p.Ala600=)
c.1662G= (p.Ala554=)
c.1515G= (p.Ala505=)
c.1377G= (p.Ala459=)
c.1356G= (p.Ala452=)
c.1512G= (p.Ala504=)
c.1599G= (p.Ala533=)
4g.80202422G>TCA440226809PRDM8c.960G>T (p.Ala320=)
c.963G>T (p.Ala321=)
c.1803G>T (p.Ala601=)
c.1800G>T (p.Ala600=)
c.1662G>T (p.Ala554=)
c.1515G>T (p.Ala505=)
c.1377G>T (p.Ala459=)
c.1356G>T (p.Ala452=)
c.1512G>T (p.Ala504=)
c.1599G>T (p.Ala533=)
dbSNP gnomAD v4
4g.80202423G>ACA357397251PRDM8c.961G>A (p.Ala321Thr)
c.964G>A (p.Ala322Thr)
c.1804G>A (p.Ala602Thr)
c.1801G>A (p.Ala601Thr)
c.1663G>A (p.Ala555Thr)
c.1516G>A (p.Ala506Thr)
c.1378G>A (p.Ala460Thr)
c.1357G>A (p.Ala453Thr)
c.1513G>A (p.Ala505Thr)
c.1600G>A (p.Ala534Thr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.80202423G>CCA357397246PRDM8c.961G>C (p.Ala321Pro)
c.964G>C (p.Ala322Pro)
c.1804G>C (p.Ala602Pro)
c.1801G>C (p.Ala601Pro)
c.1663G>C (p.Ala555Pro)
c.1516G>C (p.Ala506Pro)
c.1378G>C (p.Ala460Pro)
c.1357G>C (p.Ala453Pro)
c.1513G>C (p.Ala505Pro)
c.1600G>C (p.Ala534Pro)
4g.80202423G=CA1471293069PRDM8c.961G= (p.Ala321=)
c.964G= (p.Ala322=)
c.1804G= (p.Ala602=)
c.1801G= (p.Ala601=)
c.1663G= (p.Ala555=)
c.1516G= (p.Ala506=)
c.1378G= (p.Ala460=)
c.1357G= (p.Ala453=)
c.1513G= (p.Ala505=)
c.1600G= (p.Ala534=)
4g.80202423G>TCA357397247PRDM8c.961G>T (p.Ala321Ser)
c.964G>T (p.Ala322Ser)
c.1804G>T (p.Ala602Ser)
c.1801G>T (p.Ala601Ser)
c.1663G>T (p.Ala555Ser)
c.1516G>T (p.Ala506Ser)
c.1378G>T (p.Ala460Ser)
c.1357G>T (p.Ala453Ser)
c.1513G>T (p.Ala505Ser)
c.1600G>T (p.Ala534Ser)
gnomAD v4
4g.80202424C>ACA357397267PRDM8c.962C>A (p.Ala321Glu)
c.965C>A (p.Ala322Glu)
c.1805C>A (p.Ala602Glu)
c.1802C>A (p.Ala601Glu)
c.1664C>A (p.Ala555Glu)
c.1517C>A (p.Ala506Glu)
c.1379C>A (p.Ala460Glu)
c.1358C>A (p.Ala453Glu)
c.1514C>A (p.Ala505Glu)
c.1601C>A (p.Ala534Glu)
gnomAD v4
4g.80202424C>GCA357397269PRDM8c.962C>G (p.Ala321Gly)
c.965C>G (p.Ala322Gly)
c.1805C>G (p.Ala602Gly)
c.1802C>G (p.Ala601Gly)
c.1664C>G (p.Ala555Gly)
c.1517C>G (p.Ala506Gly)
c.1379C>G (p.Ala460Gly)
c.1358C>G (p.Ala453Gly)
c.1514C>G (p.Ala505Gly)
c.1601C>G (p.Ala534Gly)
4g.80202424C>TCA357397274PRDM8c.962C>T (p.Ala321Val)
c.965C>T (p.Ala322Val)
c.1805C>T (p.Ala602Val)
c.1802C>T (p.Ala601Val)
c.1664C>T (p.Ala555Val)
c.1517C>T (p.Ala506Val)
c.1379C>T (p.Ala460Val)
c.1358C>T (p.Ala453Val)
c.1514C>T (p.Ala505Val)
c.1601C>T (p.Ala534Val)
gnomAD v4
4g.80202425G>ACA440226818PRDM8c.963G>A (p.Ala321=)
c.966G>A (p.Ala322=)
c.1806G>A (p.Ala602=)
c.1803G>A (p.Ala601=)
c.1665G>A (p.Ala555=)
c.1518G>A (p.Ala506=)
c.1380G>A (p.Ala460=)
c.1359G>A (p.Ala453=)
c.1515G>A (p.Ala505=)
c.1602G>A (p.Ala534=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.80202425G>CCA440226820PRDM8c.963G>C (p.Ala321=)
c.966G>C (p.Ala322=)
c.1806G>C (p.Ala602=)
c.1803G>C (p.Ala601=)
c.1665G>C (p.Ala555=)
c.1518G>C (p.Ala506=)
c.1380G>C (p.Ala460=)
c.1359G>C (p.Ala453=)
c.1515G>C (p.Ala505=)
c.1602G>C (p.Ala534=)
4g.80202425G=CA1471293070PRDM8c.963G= (p.Ala321=)
c.966G= (p.Ala322=)
c.1806G= (p.Ala602=)
c.1803G= (p.Ala601=)
c.1665G= (p.Ala555=)
c.1518G= (p.Ala506=)
c.1380G= (p.Ala460=)
c.1359G= (p.Ala453=)
c.1515G= (p.Ala505=)
c.1602G= (p.Ala534=)
4g.80202425G>TCA440226822PRDM8c.963G>T (p.Ala321=)
c.966G>T (p.Ala322=)
c.1806G>T (p.Ala602=)
c.1803G>T (p.Ala601=)
c.1665G>T (p.Ala555=)
c.1518G>T (p.Ala506=)
c.1380G>T (p.Ala460=)
c.1359G>T (p.Ala453=)
c.1515G>T (p.Ala505=)
c.1602G>T (p.Ala534=)
4g.80202426G>ACA2982363PRDM8c.964G>A (p.Glu322Lys)
c.967G>A (p.Glu323Lys)
c.1807G>A (p.Glu603Lys)
c.1804G>A (p.Glu602Lys)
c.1666G>A (p.Glu556Lys)
c.1519G>A (p.Glu507Lys)
c.1381G>A (p.Glu461Lys)
c.1360G>A (p.Glu454Lys)
c.1516G>A (p.Glu506Lys)
c.1603G>A (p.Glu535Lys)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.80202426G>CCA357397278PRDM8c.964G>C (p.Glu322Gln)
c.967G>C (p.Glu323Gln)
c.1807G>C (p.Glu603Gln)
c.1804G>C (p.Glu602Gln)
c.1666G>C (p.Glu556Gln)
c.1519G>C (p.Glu507Gln)
c.1381G>C (p.Glu461Gln)
c.1360G>C (p.Glu454Gln)
c.1516G>C (p.Glu506Gln)
c.1603G>C (p.Glu535Gln)
4g.80202426G=CA1471293072PRDM8c.964G= (p.Glu322=)
c.967G= (p.Glu323=)
c.1807G= (p.Glu603=)
c.1804G= (p.Glu602=)
c.1666G= (p.Glu556=)
c.1519G= (p.Glu507=)
c.1381G= (p.Glu461=)
c.1360G= (p.Glu454=)
c.1516G= (p.Glu506=)
c.1603G= (p.Glu535=)
4g.80202426G>TCA357397280PRDM8c.964G>T (p.Glu322Ter)
c.967G>T (p.Glu323Ter)
c.1807G>T (p.Glu603Ter)
c.1804G>T (p.Glu602Ter)
c.1666G>T (p.Glu556Ter)
c.1519G>T (p.Glu507Ter)
c.1381G>T (p.Glu461Ter)
c.1360G>T (p.Glu454Ter)
c.1516G>T (p.Glu506Ter)
c.1603G>T (p.Glu535Ter)
gnomAD v4
4g.80202427A>CCA357397283PRDM8c.965A>C (p.Glu322Ala)
c.968A>C (p.Glu323Ala)
c.1808A>C (p.Glu603Ala)
c.1805A>C (p.Glu602Ala)
c.1667A>C (p.Glu556Ala)
c.1520A>C (p.Glu507Ala)
c.1382A>C (p.Glu461Ala)
c.1361A>C (p.Glu454Ala)
c.1517A>C (p.Glu506Ala)
c.1604A>C (p.Glu535Ala)
4g.80202427A>GCA357397289PRDM8c.965A>G (p.Glu322Gly)
c.968A>G (p.Glu323Gly)
c.1808A>G (p.Glu603Gly)
c.1805A>G (p.Glu602Gly)
c.1667A>G (p.Glu556Gly)
c.1520A>G (p.Glu507Gly)
c.1382A>G (p.Glu461Gly)
c.1361A>G (p.Glu454Gly)
c.1517A>G (p.Glu506Gly)
c.1604A>G (p.Glu535Gly)
4g.80202427A>TCA357397300PRDM8c.965A>T (p.Glu322Val)
c.968A>T (p.Glu323Val)
c.1808A>T (p.Glu603Val)
c.1805A>T (p.Glu602Val)
c.1667A>T (p.Glu556Val)
c.1520A>T (p.Glu507Val)
c.1382A>T (p.Glu461Val)
c.1361A>T (p.Glu454Val)
c.1517A>T (p.Glu506Val)
c.1604A>T (p.Glu535Val)
4g.80202428G>ACA100000610PRDM8c.966G>A (p.Glu322=)
c.969G>A (p.Glu323=)
c.1809G>A (p.Glu603=)
c.1806G>A (p.Glu602=)
c.1668G>A (p.Glu556=)
c.1521G>A (p.Glu507=)
c.1383G>A (p.Glu461=)
c.1362G>A (p.Glu454=)
c.1518G>A (p.Glu506=)
c.1605G>A (p.Glu535=)
dbSNP
4g.80202428G>CCA357397303PRDM8c.966G>C (p.Glu322Asp)
c.969G>C (p.Glu323Asp)
c.1809G>C (p.Glu603Asp)
c.1806G>C (p.Glu602Asp)
c.1668G>C (p.Glu556Asp)
c.1521G>C (p.Glu507Asp)
c.1383G>C (p.Glu461Asp)
c.1362G>C (p.Glu454Asp)
c.1518G>C (p.Glu506Asp)
c.1605G>C (p.Glu535Asp)
4g.80202428G=CA1471293074PRDM8c.966G= (p.Glu322=)
c.969G= (p.Glu323=)
c.1809G= (p.Glu603=)
c.1806G= (p.Glu602=)
c.1668G= (p.Glu556=)
c.1521G= (p.Glu507=)
c.1383G= (p.Glu461=)
c.1362G= (p.Glu454=)
c.1518G= (p.Glu506=)
c.1605G= (p.Glu535=)
4g.80202428G>TCA357397310PRDM8c.966G>T (p.Glu322Asp)
c.969G>T (p.Glu323Asp)
c.1809G>T (p.Glu603Asp)
c.1806G>T (p.Glu602Asp)
c.1668G>T (p.Glu556Asp)
c.1521G>T (p.Glu507Asp)
c.1383G>T (p.Glu461Asp)
c.1362G>T (p.Glu454Asp)
c.1518G>T (p.Glu506Asp)
c.1605G>T (p.Glu535Asp)
gnomAD v4
4g.80202430_80202439delCA2578127012PRDM8c.968_977del (p.Gly323AlafsTer5)
c.971_980del (p.Gly324AlafsTer5)
c.1811_1820del (p.Gly604AlafsTer5)
c.1808_1817del (p.Gly603AlafsTer5)
c.1670_1679del (p.Gly557AlafsTer5)
c.1523_1532del (p.Gly508AlafsTer5)
c.1385_1394del (p.Gly462AlafsTer5)
c.1364_1373del (p.Gly455AlafsTer5)
c.1520_1529del (p.Gly507AlafsTer5)
c.1607_1616del (p.Gly536AlafsTer5)
4g.80202429G>ACA357397319PRDM8c.967G>A (p.Gly323Ser)
c.970G>A (p.Gly324Ser)
c.1810G>A (p.Gly604Ser)
c.1807G>A (p.Gly603Ser)
c.1669G>A (p.Gly557Ser)
c.1522G>A (p.Gly508Ser)
c.1384G>A (p.Gly462Ser)
c.1363G>A (p.Gly455Ser)
c.1519G>A (p.Gly507Ser)
c.1606G>A (p.Gly536Ser)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.80202429G>CCA357397326PRDM8c.967G>C (p.Gly323Arg)
c.970G>C (p.Gly324Arg)
c.1810G>C (p.Gly604Arg)
c.1807G>C (p.Gly603Arg)
c.1669G>C (p.Gly557Arg)
c.1522G>C (p.Gly508Arg)
c.1384G>C (p.Gly462Arg)
c.1363G>C (p.Gly455Arg)
c.1519G>C (p.Gly507Arg)
c.1606G>C (p.Gly536Arg)
4g.80202429G=CA1471293077PRDM8c.967G= (p.Gly323=)
c.970G= (p.Gly324=)
c.1810G= (p.Gly604=)
c.1807G= (p.Gly603=)
c.1669G= (p.Gly557=)
c.1522G= (p.Gly508=)
c.1384G= (p.Gly462=)
c.1363G= (p.Gly455=)
c.1519G= (p.Gly507=)
c.1606G= (p.Gly536=)
4g.80202429G>TCA357397317PRDM8c.967G>T (p.Gly323Cys)
c.970G>T (p.Gly324Cys)
c.1810G>T (p.Gly604Cys)
c.1807G>T (p.Gly603Cys)
c.1669G>T (p.Gly557Cys)
c.1522G>T (p.Gly508Cys)
c.1384G>T (p.Gly462Cys)
c.1363G>T (p.Gly455Cys)
c.1519G>T (p.Gly507Cys)
c.1606G>T (p.Gly536Cys)
4g.80202430G>ACA357397327PRDM8c.968G>A (p.Gly323Asp)
c.971G>A (p.Gly324Asp)
c.1811G>A (p.Gly604Asp)
c.1808G>A (p.Gly603Asp)
c.1670G>A (p.Gly557Asp)
c.1523G>A (p.Gly508Asp)
c.1385G>A (p.Gly462Asp)
c.1364G>A (p.Gly455Asp)
c.1520G>A (p.Gly507Asp)
c.1607G>A (p.Gly536Asp)
4g.80202430G>CCA357397332PRDM8c.968G>C (p.Gly323Ala)
c.971G>C (p.Gly324Ala)
c.1811G>C (p.Gly604Ala)
c.1808G>C (p.Gly603Ala)
c.1670G>C (p.Gly557Ala)
c.1523G>C (p.Gly508Ala)
c.1385G>C (p.Gly462Ala)
c.1364G>C (p.Gly455Ala)
c.1520G>C (p.Gly507Ala)
c.1607G>C (p.Gly536Ala)
4g.80202430G>TCA357397344PRDM8c.968G>T (p.Gly323Val)
c.971G>T (p.Gly324Val)
c.1811G>T (p.Gly604Val)
c.1808G>T (p.Gly603Val)
c.1670G>T (p.Gly557Val)
c.1523G>T (p.Gly508Val)
c.1385G>T (p.Gly462Val)
c.1364G>T (p.Gly455Val)
c.1520G>T (p.Gly507Val)
c.1607G>T (p.Gly536Val)
4g.80202431C>ACA440226836PRDM8c.969C>A (p.Gly323=)
c.972C>A (p.Gly324=)
c.1812C>A (p.Gly604=)
c.1809C>A (p.Gly603=)
c.1671C>A (p.Gly557=)
c.1524C>A (p.Gly508=)
c.1386C>A (p.Gly462=)
c.1365C>A (p.Gly455=)
c.1521C>A (p.Gly507=)
c.1608C>A (p.Gly536=)
gnomAD v4
4g.80202431C=CA1471293079PRDM8c.969C= (p.Gly323=)
c.972C= (p.Gly324=)
c.1812C= (p.Gly604=)
c.1809C= (p.Gly603=)
c.1671C= (p.Gly557=)
c.1524C= (p.Gly508=)
c.1386C= (p.Gly462=)
c.1365C= (p.Gly455=)
c.1521C= (p.Gly507=)
c.1608C= (p.Gly536=)
4g.80202431C>GCA440226834PRDM8c.969C>G (p.Gly323=)
c.972C>G (p.Gly324=)
c.1812C>G (p.Gly604=)
c.1809C>G (p.Gly603=)
c.1671C>G (p.Gly557=)
c.1524C>G (p.Gly508=)
c.1386C>G (p.Gly462=)
c.1365C>G (p.Gly455=)
c.1521C>G (p.Gly507=)
c.1608C>G (p.Gly536=)
4g.80202431C>TCA440226833PRDM8c.969C>T (p.Gly323=)
c.972C>T (p.Gly324=)
c.1812C>T (p.Gly604=)
c.1809C>T (p.Gly603=)
c.1671C>T (p.Gly557=)
c.1524C>T (p.Gly508=)
c.1386C>T (p.Gly462=)
c.1365C>T (p.Gly455=)
c.1521C>T (p.Gly507=)
c.1608C>T (p.Gly536=)
dbSNP gnomAD v2 gnomAD v4
4g.80202432G>ACA357397345PRDM8c.970G>A (p.Gly324Ser)
c.973G>A (p.Gly325Ser)
c.1813G>A (p.Gly605Ser)
c.1810G>A (p.Gly604Ser)
c.1672G>A (p.Gly558Ser)
c.1525G>A (p.Gly509Ser)
c.1387G>A (p.Gly463Ser)
c.1366G>A (p.Gly456Ser)
c.1522G>A (p.Gly508Ser)
c.1609G>A (p.Gly537Ser)
dbSNP gnomAD v4
4g.80202432G>CCA357397348PRDM8c.970G>C (p.Gly324Arg)
c.973G>C (p.Gly325Arg)
c.1813G>C (p.Gly605Arg)
c.1810G>C (p.Gly604Arg)
c.1672G>C (p.Gly558Arg)
c.1525G>C (p.Gly509Arg)
c.1387G>C (p.Gly463Arg)
c.1366G>C (p.Gly456Arg)
c.1522G>C (p.Gly508Arg)
c.1609G>C (p.Gly537Arg)
4g.80202432G=CA1471293083PRDM8c.970G= (p.Gly324=)
c.973G= (p.Gly325=)
c.1813G= (p.Gly605=)
c.1810G= (p.Gly604=)
c.1672G= (p.Gly558=)
c.1525G= (p.Gly509=)
c.1387G= (p.Gly463=)
c.1366G= (p.Gly456=)
c.1522G= (p.Gly508=)
c.1609G= (p.Gly537=)
4g.80202432G>TCA357397352PRDM8c.970G>T (p.Gly324Cys)
c.973G>T (p.Gly325Cys)
c.1813G>T (p.Gly605Cys)
c.1810G>T (p.Gly604Cys)
c.1672G>T (p.Gly558Cys)
c.1525G>T (p.Gly509Cys)
c.1387G>T (p.Gly463Cys)
c.1366G>T (p.Gly456Cys)
c.1522G>T (p.Gly508Cys)
c.1609G>T (p.Gly537Cys)
dbSNP gnomAD v2 gnomAD v4
4g.80202433G>ACA357397353PRDM8c.971G>A (p.Gly324Asp)
c.974G>A (p.Gly325Asp)
c.1814G>A (p.Gly605Asp)
c.1811G>A (p.Gly604Asp)
c.1673G>A (p.Gly558Asp)
c.1526G>A (p.Gly509Asp)
c.1388G>A (p.Gly463Asp)
c.1367G>A (p.Gly456Asp)
c.1523G>A (p.Gly508Asp)
c.1610G>A (p.Gly537Asp)
dbSNP
4g.80202433G>CCA357397354PRDM8c.971G>C (p.Gly324Ala)
c.974G>C (p.Gly325Ala)
c.1814G>C (p.Gly605Ala)
c.1811G>C (p.Gly604Ala)
c.1673G>C (p.Gly558Ala)
c.1526G>C (p.Gly509Ala)
c.1388G>C (p.Gly463Ala)
c.1367G>C (p.Gly456Ala)
c.1523G>C (p.Gly508Ala)
c.1610G>C (p.Gly537Ala)
4g.80202433G=CA1471293086PRDM8c.971G= (p.Gly324=)
c.974G= (p.Gly325=)
c.1814G= (p.Gly605=)
c.1811G= (p.Gly604=)
c.1673G= (p.Gly558=)
c.1526G= (p.Gly509=)
c.1388G= (p.Gly463=)
c.1367G= (p.Gly456=)
c.1523G= (p.Gly508=)
c.1610G= (p.Gly537=)
4g.80202433G>TCA357397355PRDM8c.971G>T (p.Gly324Val)
c.974G>T (p.Gly325Val)
c.1814G>T (p.Gly605Val)
c.1811G>T (p.Gly604Val)
c.1673G>T (p.Gly558Val)
c.1526G>T (p.Gly509Val)
c.1388G>T (p.Gly463Val)
c.1367G>T (p.Gly456Val)
c.1523G>T (p.Gly508Val)
c.1610G>T (p.Gly537Val)
gnomAD v4
4g.80202434C>ACA440226842PRDM8c.972C>A (p.Gly324=)
c.975C>A (p.Gly325=)
c.1815C>A (p.Gly605=)
c.1812C>A (p.Gly604=)
c.1674C>A (p.Gly558=)
c.1527C>A (p.Gly509=)
c.1389C>A (p.Gly463=)
c.1368C>A (p.Gly456=)
c.1524C>A (p.Gly508=)
c.1611C>A (p.Gly537=)
gnomAD v4
4g.80202434C=CA1471293090PRDM8c.972C= (p.Gly324=)
c.975C= (p.Gly325=)
c.1815C= (p.Gly605=)
c.1812C= (p.Gly604=)
c.1674C= (p.Gly558=)
c.1527C= (p.Gly509=)
c.1389C= (p.Gly463=)
c.1368C= (p.Gly456=)
c.1524C= (p.Gly508=)
c.1611C= (p.Gly537=)
4g.80202434C>GCA440226843PRDM8c.972C>G (p.Gly324=)
c.975C>G (p.Gly325=)
c.1815C>G (p.Gly605=)
c.1812C>G (p.Gly604=)
c.1674C>G (p.Gly558=)
c.1527C>G (p.Gly509=)
c.1389C>G (p.Gly463=)
c.1368C>G (p.Gly456=)
c.1524C>G (p.Gly508=)
c.1611C>G (p.Gly537=)
4g.80202434C>TCA2982364PRDM8c.972C>T (p.Gly324=)
c.975C>T (p.Gly325=)
c.1815C>T (p.Gly605=)
c.1812C>T (p.Gly604=)
c.1674C>T (p.Gly558=)
c.1527C>T (p.Gly509=)
c.1389C>T (p.Gly463=)
c.1368C>T (p.Gly456=)
c.1524C>T (p.Gly508=)
c.1611C>T (p.Gly537=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.80202435G>ACA2982365PRDM8c.973G>A (p.Gly325Ser)
c.976G>A (p.Gly326Ser)
c.1816G>A (p.Gly606Ser)
c.1813G>A (p.Gly605Ser)
c.1675G>A (p.Gly559Ser)
c.1528G>A (p.Gly510Ser)
c.1390G>A (p.Gly464Ser)
c.1369G>A (p.Gly457Ser)
c.1525G>A (p.Gly509Ser)
c.1612G>A (p.Gly538Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.80202435G>CCA357397360PRDM8c.973G>C (p.Gly325Arg)
c.976G>C (p.Gly326Arg)
c.1816G>C (p.Gly606Arg)
c.1813G>C (p.Gly605Arg)
c.1675G>C (p.Gly559Arg)
c.1528G>C (p.Gly510Arg)
c.1390G>C (p.Gly464Arg)
c.1369G>C (p.Gly457Arg)
c.1525G>C (p.Gly509Arg)
c.1612G>C (p.Gly538Arg)
4g.80202435G=CA1471293094PRDM8c.973G= (p.Gly325=)
c.976G= (p.Gly326=)
c.1816G= (p.Gly606=)
c.1813G= (p.Gly605=)
c.1675G= (p.Gly559=)
c.1528G= (p.Gly510=)
c.1390G= (p.Gly464=)
c.1369G= (p.Gly457=)
c.1525G= (p.Gly509=)
c.1612G= (p.Gly538=)
4g.80202435G>TCA357397365PRDM8c.973G>T (p.Gly325Cys)
c.976G>T (p.Gly326Cys)
c.1816G>T (p.Gly606Cys)
c.1813G>T (p.Gly605Cys)
c.1675G>T (p.Gly559Cys)
c.1528G>T (p.Gly510Cys)
c.1390G>T (p.Gly464Cys)
c.1369G>T (p.Gly457Cys)
c.1525G>T (p.Gly509Cys)
c.1612G>T (p.Gly538Cys)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.80202438_80202446dupCA553082750PRDM8c.976_984dup (p.Gly328_Leu329insGlyAlaGly)
c.979_987dup (p.Gly329_Leu330insGlyAlaGly)
c.1819_1827dup (p.Gly609_Leu610insGlyAlaGly)
c.1816_1824dup (p.Gly608_Leu609insGlyAlaGly)
c.1678_1686dup (p.Gly562_Leu563insGlyAlaGly)
c.1531_1539dup (p.Gly513_Leu514insGlyAlaGly)
c.1393_1401dup (p.Gly467_Leu468insGlyAlaGly)
c.1372_1380dup (p.Gly460_Leu461insGlyAlaGly)
c.1528_1536dup (p.Gly512_Leu513insGlyAlaGly)
c.1615_1623dup (p.Gly541_Leu542insGlyAlaGly)
dbSNP gnomAD v2 gnomAD v4
4g.80202436G>ACA357397392PRDM8c.974G>A (p.Gly325Asp)
c.977G>A (p.Gly326Asp)
c.1817G>A (p.Gly606Asp)
c.1814G>A (p.Gly605Asp)
c.1676G>A (p.Gly559Asp)
c.1529G>A (p.Gly510Asp)
c.1391G>A (p.Gly464Asp)
c.1370G>A (p.Gly457Asp)
c.1526G>A (p.Gly509Asp)
c.1613G>A (p.Gly538Asp)
gnomAD v4
4g.80202436G>CCA357397384PRDM8c.974G>C (p.Gly325Ala)
c.977G>C (p.Gly326Ala)
c.1817G>C (p.Gly606Ala)
c.1814G>C (p.Gly605Ala)
c.1676G>C (p.Gly559Ala)
c.1529G>C (p.Gly510Ala)
c.1391G>C (p.Gly464Ala)
c.1370G>C (p.Gly457Ala)
c.1526G>C (p.Gly509Ala)
c.1613G>C (p.Gly538Ala)
4g.80202436G>TCA357397378PRDM8c.974G>T (p.Gly325Val)
c.977G>T (p.Gly326Val)
c.1817G>T (p.Gly606Val)
c.1814G>T (p.Gly605Val)
c.1676G>T (p.Gly559Val)
c.1529G>T (p.Gly510Val)
c.1391G>T (p.Gly464Val)
c.1370G>T (p.Gly457Val)
c.1526G>T (p.Gly509Val)
c.1613G>T (p.Gly538Val)
4g.80202437T>ACA440226848PRDM8c.975T>A (p.Gly325=)
c.978T>A (p.Gly326=)
c.1818T>A (p.Gly606=)
c.1815T>A (p.Gly605=)
c.1677T>A (p.Gly559=)
c.1530T>A (p.Gly510=)
c.1392T>A (p.Gly464=)
c.1371T>A (p.Gly457=)
c.1527T>A (p.Gly509=)
c.1614T>A (p.Gly538=)
4g.80202437T>CCA440226849PRDM8c.975T>C (p.Gly325=)
c.978T>C (p.Gly326=)
c.1818T>C (p.Gly606=)
c.1815T>C (p.Gly605=)
c.1677T>C (p.Gly559=)
c.1530T>C (p.Gly510=)
c.1392T>C (p.Gly464=)
c.1371T>C (p.Gly457=)
c.1527T>C (p.Gly509=)
c.1614T>C (p.Gly538=)
gnomAD v4
4g.80202437T>GCA440226850PRDM8c.975T>G (p.Gly325=)
c.978T>G (p.Gly326=)
c.1818T>G (p.Gly606=)
c.1815T>G (p.Gly605=)
c.1677T>G (p.Gly559=)
c.1530T>G (p.Gly510=)
c.1392T>G (p.Gly464=)
c.1371T>G (p.Gly457=)
c.1527T>G (p.Gly509=)
c.1614T>G (p.Gly538=)
4g.80202438G>ACA357397398PRDM8c.976G>A (p.Gly326Ser)
c.979G>A (p.Gly327Ser)
c.1819G>A (p.Gly607Ser)
c.1816G>A (p.Gly606Ser)
c.1678G>A (p.Gly560Ser)
c.1531G>A (p.Gly511Ser)
c.1393G>A (p.Gly465Ser)
c.1372G>A (p.Gly458Ser)
c.1528G>A (p.Gly510Ser)
c.1615G>A (p.Gly539Ser)
gnomAD v4
4g.80202438G>CCA357397400PRDM8c.976G>C (p.Gly326Arg)
c.979G>C (p.Gly327Arg)
c.1819G>C (p.Gly607Arg)
c.1816G>C (p.Gly606Arg)
c.1678G>C (p.Gly560Arg)
c.1531G>C (p.Gly511Arg)
c.1393G>C (p.Gly465Arg)
c.1372G>C (p.Gly458Arg)
c.1528G>C (p.Gly510Arg)
c.1615G>C (p.Gly539Arg)
4g.80202438G>TCA357397401PRDM8c.976G>T (p.Gly326Cys)
c.979G>T (p.Gly327Cys)
c.1819G>T (p.Gly607Cys)
c.1816G>T (p.Gly606Cys)
c.1678G>T (p.Gly560Cys)
c.1531G>T (p.Gly511Cys)
c.1393G>T (p.Gly465Cys)
c.1372G>T (p.Gly458Cys)
c.1528G>T (p.Gly510Cys)
c.1615G>T (p.Gly539Cys)
4g.80202439G>ACA357397404PRDM8c.977G>A (p.Gly326Asp)
c.980G>A (p.Gly327Asp)
c.1820G>A (p.Gly607Asp)
c.1817G>A (p.Gly606Asp)
c.1679G>A (p.Gly560Asp)
c.1532G>A (p.Gly511Asp)
c.1394G>A (p.Gly465Asp)
c.1373G>A (p.Gly458Asp)
c.1529G>A (p.Gly510Asp)
c.1616G>A (p.Gly539Asp)
4g.80202439G>CCA357397413PRDM8c.977G>C (p.Gly326Ala)
c.980G>C (p.Gly327Ala)
c.1820G>C (p.Gly607Ala)
c.1817G>C (p.Gly606Ala)
c.1679G>C (p.Gly560Ala)
c.1532G>C (p.Gly511Ala)
c.1394G>C (p.Gly465Ala)
c.1373G>C (p.Gly458Ala)
c.1529G>C (p.Gly510Ala)
c.1616G>C (p.Gly539Ala)
dbSNP gnomAD v4
4g.80202439G=CA1471293098PRDM8c.977G= (p.Gly326=)
c.980G= (p.Gly327=)
c.1820G= (p.Gly607=)
c.1817G= (p.Gly606=)
c.1679G= (p.Gly560=)
c.1532G= (p.Gly511=)
c.1394G= (p.Gly465=)
c.1373G= (p.Gly458=)
c.1529G= (p.Gly510=)
c.1616G= (p.Gly539=)
4g.80202439G>TCA357397421PRDM8c.977G>T (p.Gly326Val)
c.980G>T (p.Gly327Val)
c.1820G>T (p.Gly607Val)
c.1817G>T (p.Gly606Val)
c.1679G>T (p.Gly560Val)
c.1532G>T (p.Gly511Val)
c.1394G>T (p.Gly465Val)
c.1373G>T (p.Gly458Val)
c.1529G>T (p.Gly510Val)
c.1616G>T (p.Gly539Val)
gnomAD v4
4g.80202440C>ACA440226852PRDM8c.978C>A (p.Gly326=)
c.981C>A (p.Gly327=)
c.1821C>A (p.Gly607=)
c.1818C>A (p.Gly606=)
c.1680C>A (p.Gly560=)
c.1533C>A (p.Gly511=)
c.1395C>A (p.Gly465=)
c.1374C>A (p.Gly458=)
c.1530C>A (p.Gly510=)
c.1617C>A (p.Gly539=)
ClinVar dbSNP gnomAD v2 gnomAD v4
4g.80202440C=CA1471293101PRDM8c.978C= (p.Gly326=)
c.981C= (p.Gly327=)
c.1821C= (p.Gly607=)
c.1818C= (p.Gly606=)
c.1680C= (p.Gly560=)
c.1533C= (p.Gly511=)
c.1395C= (p.Gly465=)
c.1374C= (p.Gly458=)
c.1530C= (p.Gly510=)
c.1617C= (p.Gly539=)
4g.80202440C>GCA440226853PRDM8c.978C>G (p.Gly326=)
c.981C>G (p.Gly327=)
c.1821C>G (p.Gly607=)
c.1818C>G (p.Gly606=)
c.1680C>G (p.Gly560=)
c.1533C>G (p.Gly511=)
c.1395C>G (p.Gly465=)
c.1374C>G (p.Gly458=)
c.1530C>G (p.Gly510=)
c.1617C>G (p.Gly539=)
4g.80202440C>TCA440226854PRDM8c.978C>T (p.Gly326=)
c.981C>T (p.Gly327=)
c.1821C>T (p.Gly607=)
c.1818C>T (p.Gly606=)
c.1680C>T (p.Gly560=)
c.1533C>T (p.Gly511=)
c.1395C>T (p.Gly465=)
c.1374C>T (p.Gly458=)
c.1530C>T (p.Gly510=)
c.1617C>T (p.Gly539=)
gnomAD v4
4g.80202441G>ACA357397422PRDM8c.979G>A (p.Ala327Thr)
c.982G>A (p.Ala328Thr)
c.1822G>A (p.Ala608Thr)
c.1819G>A (p.Ala607Thr)
c.1681G>A (p.Ala561Thr)
c.1534G>A (p.Ala512Thr)
c.1396G>A (p.Ala466Thr)
c.1375G>A (p.Ala459Thr)
c.1531G>A (p.Ala511Thr)
c.1618G>A (p.Ala540Thr)
dbSNP gnomAD v2 gnomAD v4
4g.80202441G>CCA357397423PRDM8c.979G>C (p.Ala327Pro)
c.982G>C (p.Ala328Pro)
c.1822G>C (p.Ala608Pro)
c.1819G>C (p.Ala607Pro)
c.1681G>C (p.Ala561Pro)
c.1534G>C (p.Ala512Pro)
c.1396G>C (p.Ala466Pro)
c.1375G>C (p.Ala459Pro)
c.1531G>C (p.Ala511Pro)
c.1618G>C (p.Ala540Pro)
dbSNP gnomAD v4
4g.80202441G=CA1471293105PRDM8c.979G= (p.Ala327=)
c.982G= (p.Ala328=)
c.1822G= (p.Ala608=)
c.1819G= (p.Ala607=)
c.1681G= (p.Ala561=)
c.1534G= (p.Ala512=)
c.1396G= (p.Ala466=)
c.1375G= (p.Ala459=)
c.1531G= (p.Ala511=)
c.1618G= (p.Ala540=)
4g.80202441G>TCA357397424PRDM8c.979G>T (p.Ala327Ser)
c.982G>T (p.Ala328Ser)
c.1822G>T (p.Ala608Ser)
c.1819G>T (p.Ala607Ser)
c.1681G>T (p.Ala561Ser)
c.1534G>T (p.Ala512Ser)
c.1396G>T (p.Ala466Ser)
c.1375G>T (p.Ala459Ser)
c.1531G>T (p.Ala511Ser)
c.1618G>T (p.Ala540Ser)
gnomAD v4
4g.80202442C>ACA357397425PRDM8c.980C>A (p.Ala327Asp)
c.983C>A (p.Ala328Asp)
c.1823C>A (p.Ala608Asp)
c.1820C>A (p.Ala607Asp)
c.1682C>A (p.Ala561Asp)
c.1535C>A (p.Ala512Asp)
c.1397C>A (p.Ala466Asp)
c.1376C>A (p.Ala459Asp)
c.1532C>A (p.Ala511Asp)
c.1619C>A (p.Ala540Asp)
4g.80202442C=CA1471293106PRDM8c.980C= (p.Ala327=)
c.983C= (p.Ala328=)
c.1823C= (p.Ala608=)
c.1820C= (p.Ala607=)
c.1682C= (p.Ala561=)
c.1535C= (p.Ala512=)
c.1397C= (p.Ala466=)
c.1376C= (p.Ala459=)
c.1532C= (p.Ala511=)
c.1619C= (p.Ala540=)
4g.80202442C>GCA357397426PRDM8c.980C>G (p.Ala327Gly)
c.983C>G (p.Ala328Gly)
c.1823C>G (p.Ala608Gly)
c.1820C>G (p.Ala607Gly)
c.1682C>G (p.Ala561Gly)
c.1535C>G (p.Ala512Gly)
c.1397C>G (p.Ala466Gly)
c.1376C>G (p.Ala459Gly)
c.1532C>G (p.Ala511Gly)
c.1619C>G (p.Ala540Gly)
dbSNP
4g.80202442C>TCA357397428PRDM8c.980C>T (p.Ala327Val)
c.983C>T (p.Ala328Val)
c.1823C>T (p.Ala608Val)
c.1820C>T (p.Ala607Val)
c.1682C>T (p.Ala561Val)
c.1535C>T (p.Ala512Val)
c.1397C>T (p.Ala466Val)
c.1376C>T (p.Ala459Val)
c.1532C>T (p.Ala511Val)
c.1619C>T (p.Ala540Val)
4g.80202443T>ACA440226856PRDM8c.981T>A (p.Ala327=)
c.984T>A (p.Ala328=)
c.1824T>A (p.Ala608=)
c.1821T>A (p.Ala607=)
c.1683T>A (p.Ala561=)
c.1536T>A (p.Ala512=)
c.1398T>A (p.Ala466=)
c.1377T>A (p.Ala459=)
c.1533T>A (p.Ala511=)
c.1620T>A (p.Ala540=)
4g.80202443T>CCA440226857PRDM8c.981T>C (p.Ala327=)
c.984T>C (p.Ala328=)
c.1824T>C (p.Ala608=)
c.1821T>C (p.Ala607=)
c.1683T>C (p.Ala561=)
c.1536T>C (p.Ala512=)
c.1398T>C (p.Ala466=)
c.1377T>C (p.Ala459=)
c.1533T>C (p.Ala511=)
c.1620T>C (p.Ala540=)
gnomAD v4
4g.80202443T>GCA440226858PRDM8c.981T>G (p.Ala327=)
c.984T>G (p.Ala328=)
c.1824T>G (p.Ala608=)
c.1821T>G (p.Ala607=)
c.1683T>G (p.Ala561=)
c.1536T>G (p.Ala512=)
c.1398T>G (p.Ala466=)
c.1377T>G (p.Ala459=)
c.1533T>G (p.Ala511=)
c.1620T>G (p.Ala540=)
4g.80202444G>ACA357397443PRDM8c.982G>A (p.Gly328Ser)
c.985G>A (p.Gly329Ser)
c.1825G>A (p.Gly609Ser)
c.1822G>A (p.Gly608Ser)
c.1684G>A (p.Gly562Ser)
c.1537G>A (p.Gly513Ser)
c.1399G>A (p.Gly467Ser)
c.1378G>A (p.Gly460Ser)
c.1534G>A (p.Gly512Ser)
c.1621G>A (p.Gly541Ser)
dbSNP gnomAD v2 gnomAD v4
4g.80202444G>CCA357397434PRDM8c.982G>C (p.Gly328Arg)
c.985G>C (p.Gly329Arg)
c.1825G>C (p.Gly609Arg)
c.1822G>C (p.Gly608Arg)
c.1684G>C (p.Gly562Arg)
c.1537G>C (p.Gly513Arg)
c.1399G>C (p.Gly467Arg)
c.1378G>C (p.Gly460Arg)
c.1534G>C (p.Gly512Arg)
c.1621G>C (p.Gly541Arg)
dbSNP
4g.80202444G=CA1471293107PRDM8c.982G= (p.Gly328=)
c.985G= (p.Gly329=)
c.1825G= (p.Gly609=)
c.1822G= (p.Gly608=)
c.1684G= (p.Gly562=)
c.1537G= (p.Gly513=)
c.1399G= (p.Gly467=)
c.1378G= (p.Gly460=)
c.1534G= (p.Gly512=)
c.1621G= (p.Gly541=)
4g.80202444G>TCA357397431PRDM8c.982G>T (p.Gly328Cys)
c.985G>T (p.Gly329Cys)
c.1825G>T (p.Gly609Cys)
c.1822G>T (p.Gly608Cys)
c.1684G>T (p.Gly562Cys)
c.1537G>T (p.Gly513Cys)
c.1399G>T (p.Gly467Cys)
c.1378G>T (p.Gly460Cys)
c.1534G>T (p.Gly512Cys)
c.1621G>T (p.Gly541Cys)
4g.80202445G>ACA357397456PRDM8c.983G>A (p.Gly328Asp)
c.986G>A (p.Gly329Asp)
c.1826G>A (p.Gly609Asp)
c.1823G>A (p.Gly608Asp)
c.1685G>A (p.Gly562Asp)
c.1538G>A (p.Gly513Asp)
c.1400G>A (p.Gly467Asp)
c.1379G>A (p.Gly460Asp)
c.1535G>A (p.Gly512Asp)
c.1622G>A (p.Gly541Asp)
4g.80202445G>CCA357397457PRDM8c.983G>C (p.Gly328Ala)
c.986G>C (p.Gly329Ala)
c.1826G>C (p.Gly609Ala)
c.1823G>C (p.Gly608Ala)
c.1685G>C (p.Gly562Ala)
c.1538G>C (p.Gly513Ala)
c.1400G>C (p.Gly467Ala)
c.1379G>C (p.Gly460Ala)
c.1535G>C (p.Gly512Ala)
c.1622G>C (p.Gly541Ala)
ClinVar dbSNP gnomAD v2 gnomAD v4
4g.80202445G=CA1471293111PRDM8c.983G= (p.Gly328=)
c.986G= (p.Gly329=)
c.1826G= (p.Gly609=)
c.1823G= (p.Gly608=)
c.1685G= (p.Gly562=)
c.1538G= (p.Gly513=)
c.1400G= (p.Gly467=)
c.1379G= (p.Gly460=)
c.1535G= (p.Gly512=)
c.1622G= (p.Gly541=)
4g.80202445G>TCA357397467PRDM8c.983G>T (p.Gly328Val)
c.986G>T (p.Gly329Val)
c.1826G>T (p.Gly609Val)
c.1823G>T (p.Gly608Val)
c.1685G>T (p.Gly562Val)
c.1538G>T (p.Gly513Val)
c.1400G>T (p.Gly467Val)
c.1379G>T (p.Gly460Val)
c.1535G>T (p.Gly512Val)
c.1622G>T (p.Gly541Val)
gnomAD v4
4g.80202446T>ACA440226860PRDM8c.984T>A (p.Gly328=)
c.987T>A (p.Gly329=)
c.1827T>A (p.Gly609=)
c.1824T>A (p.Gly608=)
c.1686T>A (p.Gly562=)
c.1539T>A (p.Gly513=)
c.1401T>A (p.Gly467=)
c.1380T>A (p.Gly460=)
c.1536T>A (p.Gly512=)
c.1623T>A (p.Gly541=)
gnomAD v4
4g.80202446T>CCA440226862PRDM8c.984T>C (p.Gly328=)
c.987T>C (p.Gly329=)
c.1827T>C (p.Gly609=)
c.1824T>C (p.Gly608=)
c.1686T>C (p.Gly562=)
c.1539T>C (p.Gly513=)
c.1401T>C (p.Gly467=)
c.1380T>C (p.Gly460=)
c.1536T>C (p.Gly512=)
c.1623T>C (p.Gly541=)
4g.80202446T>GCA440226863PRDM8c.984T>G (p.Gly328=)
c.987T>G (p.Gly329=)
c.1827T>G (p.Gly609=)
c.1824T>G (p.Gly608=)
c.1686T>G (p.Gly562=)
c.1539T>G (p.Gly513=)
c.1401T>G (p.Gly467=)
c.1380T>G (p.Gly460=)
c.1536T>G (p.Gly512=)
c.1623T>G (p.Gly541=)
dbSNP
4g.80202446T=CA1471293112PRDM8c.984T= (p.Gly328=)
c.987T= (p.Gly329=)
c.1827T= (p.Gly609=)
c.1824T= (p.Gly608=)
c.1686T= (p.Gly562=)
c.1539T= (p.Gly513=)
c.1401T= (p.Gly467=)
c.1380T= (p.Gly460=)
c.1536T= (p.Gly512=)
c.1623T= (p.Gly541=)
4g.80202447C>ACA357397468PRDM8c.985C>A (p.Leu329Met)
c.988C>A (p.Leu330Met)
c.1828C>A (p.Leu610Met)
c.1825C>A (p.Leu609Met)
c.1687C>A (p.Leu563Met)
c.1540C>A (p.Leu514Met)
c.1402C>A (p.Leu468Met)
c.1381C>A (p.Leu461Met)
c.1537C>A (p.Leu513Met)
c.1624C>A (p.Leu542Met)
4g.80202447C=CA1471293113PRDM8c.985C= (p.Leu329=)
c.988C= (p.Leu330=)
c.1828C= (p.Leu610=)
c.1825C= (p.Leu609=)
c.1687C= (p.Leu563=)
c.1540C= (p.Leu514=)
c.1402C= (p.Leu468=)
c.1381C= (p.Leu461=)
c.1537C= (p.Leu513=)
c.1624C= (p.Leu542=)
4g.80202447C>GCA357397471PRDM8c.985C>G (p.Leu329Val)
c.988C>G (p.Leu330Val)
c.1828C>G (p.Leu610Val)
c.1825C>G (p.Leu609Val)
c.1687C>G (p.Leu563Val)
c.1540C>G (p.Leu514Val)
c.1402C>G (p.Leu468Val)
c.1381C>G (p.Leu461Val)
c.1537C>G (p.Leu513Val)
c.1624C>G (p.Leu542Val)
gnomAD v4
4g.80202447C>TCA2982366PRDM8c.985C>T (p.Leu329=)
c.988C>T (p.Leu330=)
c.1828C>T (p.Leu610=)
c.1825C>T (p.Leu609=)
c.1687C>T (p.Leu563=)
c.1540C>T (p.Leu514=)
c.1402C>T (p.Leu468=)
c.1381C>T (p.Leu461=)
c.1537C>T (p.Leu513=)
c.1624C>T (p.Leu542=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.80202448T>ACA357397488PRDM8c.986T>A (p.Leu329Gln)
c.989T>A (p.Leu330Gln)
c.1829T>A (p.Leu610Gln)
c.1826T>A (p.Leu609Gln)
c.1688T>A (p.Leu563Gln)
c.1541T>A (p.Leu514Gln)
c.1403T>A (p.Leu468Gln)
c.1382T>A (p.Leu461Gln)
c.1538T>A (p.Leu513Gln)
c.1625T>A (p.Leu542Gln)
4g.80202448T>CCA357397498PRDM8c.986T>C (p.Leu329Pro)
c.989T>C (p.Leu330Pro)
c.1829T>C (p.Leu610Pro)
c.1826T>C (p.Leu609Pro)
c.1688T>C (p.Leu563Pro)
c.1541T>C (p.Leu514Pro)
c.1403T>C (p.Leu468Pro)
c.1382T>C (p.Leu461Pro)
c.1538T>C (p.Leu513Pro)
c.1625T>C (p.Leu542Pro)
4g.80202448T>GCA357397499PRDM8c.986T>G (p.Leu329Arg)
c.989T>G (p.Leu330Arg)
c.1829T>G (p.Leu610Arg)
c.1826T>G (p.Leu609Arg)
c.1688T>G (p.Leu563Arg)
c.1541T>G (p.Leu514Arg)
c.1403T>G (p.Leu468Arg)
c.1382T>G (p.Leu461Arg)
c.1538T>G (p.Leu513Arg)
c.1625T>G (p.Leu542Arg)
4g.80202448T=CA1471293114PRDM8c.986T= (p.Leu329=)
c.989T= (p.Leu330=)
c.1829T= (p.Leu610=)
c.1826T= (p.Leu609=)
c.1688T= (p.Leu563=)
c.1541T= (p.Leu514=)
c.1403T= (p.Leu468=)
c.1382T= (p.Leu461=)
c.1538T= (p.Leu513=)
c.1625T= (p.Leu542=)
4g.80202449G>ACA100000623PRDM8c.987G>A (p.Leu329=)
c.990G>A (p.Leu330=)
c.1830G>A (p.Leu610=)
c.1827G>A (p.Leu609=)
c.1689G>A (p.Leu563=)
c.1542G>A (p.Leu514=)
c.1404G>A (p.Leu468=)
c.1383G>A (p.Leu461=)
c.1539G>A (p.Leu513=)
c.1626G>A (p.Leu542=)
dbSNP gnomAD v3 gnomAD v4
4g.80202449G>CCA440226869PRDM8c.987G>C (p.Leu329=)
c.990G>C (p.Leu330=)
c.1830G>C (p.Leu610=)
c.1827G>C (p.Leu609=)
c.1689G>C (p.Leu563=)
c.1542G>C (p.Leu514=)
c.1404G>C (p.Leu468=)
c.1383G>C (p.Leu461=)
c.1539G>C (p.Leu513=)
c.1626G>C (p.Leu542=)
gnomAD v4
4g.80202449G=CA1471293117PRDM8c.987G= (p.Leu329=)
c.990G= (p.Leu330=)
c.1830G= (p.Leu610=)
c.1827G= (p.Leu609=)
c.1689G= (p.Leu563=)
c.1542G= (p.Leu514=)
c.1404G= (p.Leu468=)
c.1383G= (p.Leu461=)
c.1539G= (p.Leu513=)
c.1626G= (p.Leu542=)
4g.80202449G>TCA2982367PRDM8c.987G>T (p.Leu329=)
c.990G>T (p.Leu330=)
c.1830G>T (p.Leu610=)
c.1827G>T (p.Leu609=)
c.1689G>T (p.Leu563=)
c.1542G>T (p.Leu514=)
c.1404G>T (p.Leu468=)
c.1383G>T (p.Leu461=)
c.1539G>T (p.Leu513=)
c.1626G>T (p.Leu542=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.80202451_80202456dupCA1471293116PRDM8c.989_994dup (p.Gly331_Gly332insValGly)
c.992_997dup (p.Gly332_Gly333insValGly)
c.1832_1837dup (p.Gly612_Gly613insValGly)
c.1829_1834dup (p.Gly611_Gly612insValGly)
c.1691_1696dup (p.Gly565_Gly566insValGly)
c.1544_1549dup (p.Gly516_Gly517insValGly)
c.1406_1411dup (p.Gly470_Gly471insValGly)
c.1385_1390dup (p.Gly463_Gly464insValGly)
c.1541_1546dup (p.Gly515_Gly516insValGly)
c.1628_1633dup (p.Gly544_Gly545insValGly)
dbSNP
4g.80202450G>ACA357397505PRDM8c.988G>A (p.Val330Ile)
c.991G>A (p.Val331Ile)
c.1831G>A (p.Val611Ile)
c.1828G>A (p.Val610Ile)
c.1690G>A (p.Val564Ile)
c.1543G>A (p.Val515Ile)
c.1405G>A (p.Val469Ile)
c.1384G>A (p.Val462Ile)
c.1540G>A (p.Val514Ile)
c.1627G>A (p.Val543Ile)
gnomAD v4
4g.80202450G>CCA2982368PRDM8c.988G>C (p.Val330Leu)
c.991G>C (p.Val331Leu)
c.1831G>C (p.Val611Leu)
c.1828G>C (p.Val610Leu)
c.1690G>C (p.Val564Leu)
c.1543G>C (p.Val515Leu)
c.1405G>C (p.Val469Leu)
c.1384G>C (p.Val462Leu)
c.1540G>C (p.Val514Leu)
c.1627G>C (p.Val543Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.80202450G=CA1471293123PRDM8c.988G= (p.Val330=)
c.991G= (p.Val331=)
c.1831G= (p.Val611=)
c.1828G= (p.Val610=)
c.1690G= (p.Val564=)
c.1543G= (p.Val515=)
c.1405G= (p.Val469=)
c.1384G= (p.Val462=)
c.1540G= (p.Val514=)
c.1627G= (p.Val543=)
4g.80202450G>TCA357397509PRDM8c.988G>T (p.Val330Leu)
c.991G>T (p.Val331Leu)
c.1831G>T (p.Val611Leu)
c.1828G>T (p.Val610Leu)
c.1690G>T (p.Val564Leu)
c.1543G>T (p.Val515Leu)
c.1405G>T (p.Val469Leu)
c.1384G>T (p.Val462Leu)
c.1540G>T (p.Val514Leu)
c.1627G>T (p.Val543Leu)
4g.80202454_80202474delCA2671177959PRDM8c.992_1012del (p.Gly331_Val337del)
c.995_1015del (p.Gly332_Val338del)
c.1835_1855del (p.Gly612_Val618del)
c.1832_1852del (p.Gly611_Val617del)
c.1694_1714del (p.Gly565_Val571del)
c.1547_1567del (p.Gly516_Val522del)
c.1409_1429del (p.Gly470_Val476del)
c.1388_1408del (p.Gly463_Val469del)
c.1544_1564del (p.Gly515_Val521del)
c.1631_1651del (p.Gly544_Val550del)
gnomAD v4
4g.80202451T>ACA357397533PRDM8c.989T>A (p.Val330Glu)
c.992T>A (p.Val331Glu)
c.1832T>A (p.Val611Glu)
c.1829T>A (p.Val610Glu)
c.1691T>A (p.Val564Glu)
c.1544T>A (p.Val515Glu)
c.1406T>A (p.Val469Glu)
c.1385T>A (p.Val462Glu)
c.1541T>A (p.Val514Glu)
c.1628T>A (p.Val543Glu)
dbSNP
4g.80202451T>CCA357397520PRDM8c.989T>C (p.Val330Ala)
c.992T>C (p.Val331Ala)
c.1832T>C (p.Val611Ala)
c.1829T>C (p.Val610Ala)
c.1691T>C (p.Val564Ala)
c.1544T>C (p.Val515Ala)
c.1406T>C (p.Val469Ala)
c.1385T>C (p.Val462Ala)
c.1541T>C (p.Val514Ala)
c.1628T>C (p.Val543Ala)
4g.80202451T>GCA357397516PRDM8c.989T>G (p.Val330Gly)
c.992T>G (p.Val331Gly)
c.1832T>G (p.Val611Gly)
c.1829T>G (p.Val610Gly)
c.1691T>G (p.Val564Gly)
c.1544T>G (p.Val515Gly)
c.1406T>G (p.Val469Gly)
c.1385T>G (p.Val462Gly)
c.1541T>G (p.Val514Gly)
c.1628T>G (p.Val543Gly)
4g.80202451T=CA1471293126PRDM8c.989T= (p.Val330=)
c.992T= (p.Val331=)
c.1832T= (p.Val611=)
c.1829T= (p.Val610=)
c.1691T= (p.Val564=)
c.1544T= (p.Val515=)
c.1406T= (p.Val469=)
c.1385T= (p.Val462=)
c.1541T= (p.Val514=)
c.1628T= (p.Val543=)
4g.80202452A>CCA440226881PRDM8c.990A>C (p.Val330=)
c.993A>C (p.Val331=)
c.1833A>C (p.Val611=)
c.1830A>C (p.Val610=)
c.1692A>C (p.Val564=)
c.1545A>C (p.Val515=)
c.1407A>C (p.Val469=)
c.1386A>C (p.Val462=)
c.1542A>C (p.Val514=)
c.1629A>C (p.Val543=)
gnomAD v4
4g.80202452A>GCA440226882PRDM8c.990A>G (p.Val330=)
c.993A>G (p.Val331=)
c.1833A>G (p.Val611=)
c.1830A>G (p.Val610=)
c.1692A>G (p.Val564=)
c.1545A>G (p.Val515=)
c.1407A>G (p.Val469=)
c.1386A>G (p.Val462=)
c.1542A>G (p.Val514=)
c.1629A>G (p.Val543=)
gnomAD v4
4g.80202452A>TCA440226884PRDM8c.990A>T (p.Val330=)
c.993A>T (p.Val331=)
c.1833A>T (p.Val611=)
c.1830A>T (p.Val610=)
c.1692A>T (p.Val564=)
c.1545A>T (p.Val515=)
c.1407A>T (p.Val469=)
c.1386A>T (p.Val462=)
c.1542A>T (p.Val514=)
c.1629A>T (p.Val543=)
4g.80202453G>ACA357397546PRDM8c.991G>A (p.Gly331Arg)
c.994G>A (p.Gly332Arg)
c.1834G>A (p.Gly612Arg)
c.1831G>A (p.Gly611Arg)
c.1693G>A (p.Gly565Arg)
c.1546G>A (p.Gly516Arg)
c.1408G>A (p.Gly470Arg)
c.1387G>A (p.Gly463Arg)
c.1543G>A (p.Gly515Arg)
c.1630G>A (p.Gly544Arg)
4g.80202453G>CCA357397550PRDM8c.991G>C (p.Gly331Arg)
c.994G>C (p.Gly332Arg)
c.1834G>C (p.Gly612Arg)
c.1831G>C (p.Gly611Arg)
c.1693G>C (p.Gly565Arg)
c.1546G>C (p.Gly516Arg)
c.1408G>C (p.Gly470Arg)
c.1387G>C (p.Gly463Arg)
c.1543G>C (p.Gly515Arg)
c.1630G>C (p.Gly544Arg)
4g.80202453G>TCA357397551PRDM8c.991G>T (p.Gly331Trp)
c.994G>T (p.Gly332Trp)
c.1834G>T (p.Gly612Trp)
c.1831G>T (p.Gly611Trp)
c.1693G>T (p.Gly565Trp)
c.1546G>T (p.Gly516Trp)
c.1408G>T (p.Gly470Trp)
c.1387G>T (p.Gly463Trp)
c.1543G>T (p.Gly515Trp)
c.1630G>T (p.Gly544Trp)
gnomAD v4
4g.80202457dupCA2762347076PRDM8c.995dup (p.Arg333ProfsTer?)
c.998dup (p.Arg334ProfsTer?)
c.1838dup (p.Arg614ProfsTer?)
c.1835dup (p.Arg613ProfsTer?)
c.1697dup (p.Arg567ProfsTer?)
c.1550dup (p.Arg518ProfsTer?)
c.1412dup (p.Arg472ProfsTer?)
c.1391dup (p.Arg465ProfsTer?)
c.1547dup (p.Arg517ProfsTer?)
c.1634dup (p.Arg546ProfsTer?)
4g.80202454G>ACA357397554PRDM8c.992G>A (p.Gly331Glu)
c.995G>A (p.Gly332Glu)
c.1835G>A (p.Gly612Glu)
c.1832G>A (p.Gly611Glu)
c.1694G>A (p.Gly565Glu)
c.1547G>A (p.Gly516Glu)
c.1409G>A (p.Gly470Glu)
c.1388G>A (p.Gly463Glu)
c.1544G>A (p.Gly515Glu)
c.1631G>A (p.Gly544Glu)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.80202454G>CCA357397556PRDM8c.992G>C (p.Gly331Ala)
c.995G>C (p.Gly332Ala)
c.1835G>C (p.Gly612Ala)
c.1832G>C (p.Gly611Ala)
c.1694G>C (p.Gly565Ala)
c.1547G>C (p.Gly516Ala)
c.1409G>C (p.Gly470Ala)
c.1388G>C (p.Gly463Ala)
c.1544G>C (p.Gly515Ala)
c.1631G>C (p.Gly544Ala)
dbSNP
4g.80202454G=CA1471293132PRDM8c.992G= (p.Gly331=)
c.995G= (p.Gly332=)
c.1835G= (p.Gly612=)
c.1832G= (p.Gly611=)
c.1694G= (p.Gly565=)
c.1547G= (p.Gly516=)
c.1409G= (p.Gly470=)
c.1388G= (p.Gly463=)
c.1544G= (p.Gly515=)
c.1631G= (p.Gly544=)
4g.80202454G>TCA357397562PRDM8c.992G>T (p.Gly331Val)
c.995G>T (p.Gly332Val)
c.1835G>T (p.Gly612Val)
c.1832G>T (p.Gly611Val)
c.1694G>T (p.Gly565Val)
c.1547G>T (p.Gly516Val)
c.1409G>T (p.Gly470Val)
c.1388G>T (p.Gly463Val)
c.1544G>T (p.Gly515Val)
c.1631G>T (p.Gly544Val)
4g.80202455G>ACA440226897PRDM8c.993G>A (p.Gly331=)
c.996G>A (p.Gly332=)
c.1836G>A (p.Gly612=)
c.1833G>A (p.Gly611=)
c.1695G>A (p.Gly565=)
c.1548G>A (p.Gly516=)
c.1410G>A (p.Gly470=)
c.1389G>A (p.Gly463=)
c.1545G>A (p.Gly515=)
c.1632G>A (p.Gly544=)
dbSNP gnomAD v4
4g.80202455G>CCA440226896PRDM8c.993G>C (p.Gly331=)
c.996G>C (p.Gly332=)
c.1836G>C (p.Gly612=)
c.1833G>C (p.Gly611=)
c.1695G>C (p.Gly565=)
c.1548G>C (p.Gly516=)
c.1410G>C (p.Gly470=)
c.1389G>C (p.Gly463=)
c.1545G>C (p.Gly515=)
c.1632G>C (p.Gly544=)
gnomAD v4
4g.80202455G=CA1471293138PRDM8c.993G= (p.Gly331=)
c.996G= (p.Gly332=)
c.1836G= (p.Gly612=)
c.1833G= (p.Gly611=)
c.1695G= (p.Gly565=)
c.1548G= (p.Gly516=)
c.1410G= (p.Gly470=)
c.1389G= (p.Gly463=)
c.1545G= (p.Gly515=)
c.1632G= (p.Gly544=)
4g.80202455G>TCA440226895PRDM8c.993G>T (p.Gly331=)
c.996G>T (p.Gly332=)
c.1836G>T (p.Gly612=)
c.1833G>T (p.Gly611=)
c.1695G>T (p.Gly565=)
c.1548G>T (p.Gly516=)
c.1410G>T (p.Gly470=)
c.1389G>T (p.Gly463=)
c.1545G>T (p.Gly515=)
c.1632G>T (p.Gly544=)
gnomAD v4
4g.80202456G>ACA357397565PRDM8c.994G>A (p.Gly332Ser)
c.997G>A (p.Gly333Ser)
c.1837G>A (p.Gly613Ser)
c.1834G>A (p.Gly612Ser)
c.1696G>A (p.Gly566Ser)
c.1549G>A (p.Gly517Ser)
c.1411G>A (p.Gly471Ser)
c.1390G>A (p.Gly464Ser)
c.1546G>A (p.Gly516Ser)
c.1633G>A (p.Gly545Ser)
4g.80202456G>CCA357397567PRDM8c.994G>C (p.Gly332Arg)
c.997G>C (p.Gly333Arg)
c.1837G>C (p.Gly613Arg)
c.1834G>C (p.Gly612Arg)
c.1696G>C (p.Gly566Arg)
c.1549G>C (p.Gly517Arg)
c.1411G>C (p.Gly471Arg)
c.1390G>C (p.Gly464Arg)
c.1546G>C (p.Gly516Arg)
c.1633G>C (p.Gly545Arg)
4g.80202456G>TCA357397572PRDM8c.994G>T (p.Gly332Cys)
c.997G>T (p.Gly333Cys)
c.1837G>T (p.Gly613Cys)
c.1834G>T (p.Gly612Cys)
c.1696G>T (p.Gly566Cys)
c.1549G>T (p.Gly517Cys)
c.1411G>T (p.Gly471Cys)
c.1390G>T (p.Gly464Cys)
c.1546G>T (p.Gly516Cys)
c.1633G>T (p.Gly545Cys)
gnomAD v4
4g.80202457G>ACA100000630PRDM8c.995G>A (p.Gly332Asp)
c.998G>A (p.Gly333Asp)
c.1838G>A (p.Gly613Asp)
c.1835G>A (p.Gly612Asp)
c.1697G>A (p.Gly566Asp)
c.1550G>A (p.Gly517Asp)
c.1412G>A (p.Gly471Asp)
c.1391G>A (p.Gly464Asp)
c.1547G>A (p.Gly516Asp)
c.1634G>A (p.Gly545Asp)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.80202457G>CCA357397580PRDM8c.995G>C (p.Gly332Ala)
c.998G>C (p.Gly333Ala)
c.1838G>C (p.Gly613Ala)
c.1835G>C (p.Gly612Ala)
c.1697G>C (p.Gly566Ala)
c.1550G>C (p.Gly517Ala)
c.1412G>C (p.Gly471Ala)
c.1391G>C (p.Gly464Ala)
c.1547G>C (p.Gly516Ala)
c.1634G>C (p.Gly545Ala)
4g.80202457G=CA1471293143PRDM8c.995G= (p.Gly332=)
c.998G= (p.Gly333=)
c.1838G= (p.Gly613=)
c.1835G= (p.Gly612=)
c.1697G= (p.Gly566=)
c.1550G= (p.Gly517=)
c.1412G= (p.Gly471=)
c.1391G= (p.Gly464=)
c.1547G= (p.Gly516=)
c.1634G= (p.Gly545=)
4g.80202457G>TCA357397581PRDM8c.995G>T (p.Gly332Val)
c.998G>T (p.Gly333Val)
c.1838G>T (p.Gly613Val)
c.1835G>T (p.Gly612Val)
c.1697G>T (p.Gly566Val)
c.1550G>T (p.Gly517Val)
c.1412G>T (p.Gly471Val)
c.1391G>T (p.Gly464Val)
c.1547G>T (p.Gly516Val)
c.1634G>T (p.Gly545Val)
gnomAD v4
4g.80202458C>ACA440226903PRDM8c.996C>A (p.Gly332=)
c.999C>A (p.Gly333=)
c.1839C>A (p.Gly613=)
c.1836C>A (p.Gly612=)
c.1698C>A (p.Gly566=)
c.1551C>A (p.Gly517=)
c.1413C>A (p.Gly471=)
c.1392C>A (p.Gly464=)
c.1548C>A (p.Gly516=)
c.1635C>A (p.Gly545=)
4g.80202458C=CA1471293150PRDM8c.996C= (p.Gly332=)
c.999C= (p.Gly333=)
c.1839C= (p.Gly613=)
c.1836C= (p.Gly612=)
c.1698C= (p.Gly566=)
c.1551C= (p.Gly517=)
c.1413C= (p.Gly471=)
c.1392C= (p.Gly464=)
c.1548C= (p.Gly516=)
c.1635C= (p.Gly545=)
4g.80202458C>GCA440226904PRDM8c.996C>G (p.Gly332=)
c.999C>G (p.Gly333=)
c.1839C>G (p.Gly613=)
c.1836C>G (p.Gly612=)
c.1698C>G (p.Gly566=)
c.1551C>G (p.Gly517=)
c.1413C>G (p.Gly471=)
c.1392C>G (p.Gly464=)
c.1548C>G (p.Gly516=)
c.1635C>G (p.Gly545=)
ClinVar gnomAD v4
4g.80202458C>TCA440226906PRDM8c.996C>T (p.Gly332=)
c.999C>T (p.Gly333=)
c.1839C>T (p.Gly613=)
c.1836C>T (p.Gly612=)
c.1698C>T (p.Gly566=)
c.1551C>T (p.Gly517=)
c.1413C>T (p.Gly471=)
c.1392C>T (p.Gly464=)
c.1548C>T (p.Gly516=)
c.1635C>T (p.Gly545=)
dbSNP gnomAD v2 gnomAD v4
4g.80202459C>ACA440226911PRDM8c.997C>A (p.Arg333=)
c.1000C>A (p.Arg334=)
c.1840C>A (p.Arg614=)
c.1837C>A (p.Arg613=)
c.1699C>A (p.Arg567=)
c.1552C>A (p.Arg518=)
c.1414C>A (p.Arg472=)
c.1393C>A (p.Arg465=)
c.1549C>A (p.Arg517=)
c.1636C>A (p.Arg546=)
4g.80202459C=CA1471293153PRDM8c.997C= (p.Arg333=)
c.1000C= (p.Arg334=)
c.1840C= (p.Arg614=)
c.1837C= (p.Arg613=)
c.1699C= (p.Arg567=)
c.1552C= (p.Arg518=)
c.1414C= (p.Arg472=)
c.1393C= (p.Arg465=)
c.1549C= (p.Arg517=)
c.1636C= (p.Arg546=)
4g.80202459C>GCA357397584PRDM8c.997C>G (p.Arg333Gly)
c.1000C>G (p.Arg334Gly)
c.1840C>G (p.Arg614Gly)
c.1837C>G (p.Arg613Gly)
c.1699C>G (p.Arg567Gly)
c.1552C>G (p.Arg518Gly)
c.1414C>G (p.Arg472Gly)
c.1393C>G (p.Arg465Gly)
c.1549C>G (p.Arg517Gly)
c.1636C>G (p.Arg546Gly)
dbSNP gnomAD v3 gnomAD v4
4g.80202459C>TCA357397585PRDM8c.997C>T (p.Arg333Trp)
c.1000C>T (p.Arg334Trp)
c.1840C>T (p.Arg614Trp)
c.1837C>T (p.Arg613Trp)
c.1699C>T (p.Arg567Trp)
c.1552C>T (p.Arg518Trp)
c.1414C>T (p.Arg472Trp)
c.1393C>T (p.Arg465Trp)
c.1549C>T (p.Arg517Trp)
c.1636C>T (p.Arg546Trp)
4g.80202460G>ACA357397594PRDM8c.998G>A (p.Arg333Gln)
c.1001G>A (p.Arg334Gln)
c.1841G>A (p.Arg614Gln)
c.1838G>A (p.Arg613Gln)
c.1700G>A (p.Arg567Gln)
c.1553G>A (p.Arg518Gln)
c.1415G>A (p.Arg472Gln)
c.1394G>A (p.Arg465Gln)
c.1550G>A (p.Arg517Gln)
c.1637G>A (p.Arg546Gln)
dbSNP gnomAD v3 gnomAD v4
4g.80202460G>CCA357397595PRDM8c.998G>C (p.Arg333Pro)
c.1001G>C (p.Arg334Pro)
c.1841G>C (p.Arg614Pro)
c.1838G>C (p.Arg613Pro)
c.1700G>C (p.Arg567Pro)
c.1553G>C (p.Arg518Pro)
c.1415G>C (p.Arg472Pro)
c.1394G>C (p.Arg465Pro)
c.1550G>C (p.Arg517Pro)
c.1637G>C (p.Arg546Pro)
gnomAD v4
4g.80202460G=CA1471293164PRDM8c.998G= (p.Arg333=)
c.1001G= (p.Arg334=)
c.1841G= (p.Arg614=)
c.1838G= (p.Arg613=)
c.1700G= (p.Arg567=)
c.1553G= (p.Arg518=)
c.1415G= (p.Arg472=)
c.1394G= (p.Arg465=)
c.1550G= (p.Arg517=)
c.1637G= (p.Arg546=)
4g.80202460G>TCA357397590PRDM8c.998G>T (p.Arg333Leu)
c.1001G>T (p.Arg334Leu)
c.1841G>T (p.Arg614Leu)
c.1838G>T (p.Arg613Leu)
c.1700G>T (p.Arg567Leu)
c.1553G>T (p.Arg518Leu)
c.1415G>T (p.Arg472Leu)
c.1394G>T (p.Arg465Leu)
c.1550G>T (p.Arg517Leu)
c.1637G>T (p.Arg546Leu)
ClinVar dbSNP gnomAD v4
4g.80202463_80202464insGGGGGGGGGGGGGGGGGGGCA1139769839PRDM8c.1001_1002insGGGGGGGGGGGGGGGGGGG (p.Arg335GlyfsTer?)
c.1004_1005insGGGGGGGGGGGGGGGGGGG (p.Arg336GlyfsTer?)
c.1844_1845insGGGGGGGGGGGGGGGGGGG (p.Arg616GlyfsTer?)
c.1841_1842insGGGGGGGGGGGGGGGGGGG (p.Arg615GlyfsTer?)
c.1703_1704insGGGGGGGGGGGGGGGGGGG (p.Arg569GlyfsTer?)
c.1556_1557insGGGGGGGGGGGGGGGGGGG (p.Arg520GlyfsTer?)
c.1418_1419insGGGGGGGGGGGGGGGGGGG (p.Arg474GlyfsTer?)
c.1397_1398insGGGGGGGGGGGGGGGGGGG (p.Arg467GlyfsTer?)
c.1553_1554insGGGGGGGGGGGGGGGGGGG (p.Arg519GlyfsTer?)
c.1640_1641insGGGGGGGGGGGGGGGGGGG (p.Arg548GlyfsTer?)
4g.80202463_80202464insGGGGGGGGGGGGGGGGGGGGCA2762347077PRDM8c.1001_1002insGGGGGGGGGGGGGGGGGGGG (p.Arg335GlyfsTer10)
c.1004_1005insGGGGGGGGGGGGGGGGGGGG (p.Arg336GlyfsTer10)
c.1844_1845insGGGGGGGGGGGGGGGGGGGG (p.Arg616GlyfsTer10)
c.1841_1842insGGGGGGGGGGGGGGGGGGGG (p.Arg615GlyfsTer10)
c.1703_1704insGGGGGGGGGGGGGGGGGGGG (p.Arg569GlyfsTer10)
c.1556_1557insGGGGGGGGGGGGGGGGGGGG (p.Arg520GlyfsTer10)
c.1418_1419insGGGGGGGGGGGGGGGGGGGG (p.Arg474GlyfsTer10)
c.1397_1398insGGGGGGGGGGGGGGGGGGGG (p.Arg467GlyfsTer10)
c.1553_1554insGGGGGGGGGGGGGGGGGGGG (p.Arg519GlyfsTer10)
c.1640_1641insGGGGGGGGGGGGGGGGGGGG (p.Arg548GlyfsTer10)
4g.80202463_80202464insGGGGGGGGGGGGGGGGGGGGGCA2671177995PRDM8c.1001_1002insGGGGGGGGGGGGGGGGGGGGG (p.Gly334_Arg335insGlyGlyGlyGlyGlyGlyGly)
c.1004_1005insGGGGGGGGGGGGGGGGGGGGG (p.Gly335_Arg336insGlyGlyGlyGlyGlyGlyGly)
c.1844_1845insGGGGGGGGGGGGGGGGGGGGG (p.Gly615_Arg616insGlyGlyGlyGlyGlyGlyGly)
c.1841_1842insGGGGGGGGGGGGGGGGGGGGG (p.Gly614_Arg615insGlyGlyGlyGlyGlyGlyGly)
c.1703_1704insGGGGGGGGGGGGGGGGGGGGG (p.Gly568_Arg569insGlyGlyGlyGlyGlyGlyGly)
c.1556_1557insGGGGGGGGGGGGGGGGGGGGG (p.Gly519_Arg520insGlyGlyGlyGlyGlyGlyGly)
c.1418_1419insGGGGGGGGGGGGGGGGGGGGG (p.Gly473_Arg474insGlyGlyGlyGlyGlyGlyGly)
c.1397_1398insGGGGGGGGGGGGGGGGGGGGG (p.Gly466_Arg467insGlyGlyGlyGlyGlyGlyGly)
c.1553_1554insGGGGGGGGGGGGGGGGGGGGG (p.Gly518_Arg519insGlyGlyGlyGlyGlyGlyGly)
c.1640_1641insGGGGGGGGGGGGGGGGGGGGG (p.Gly547_Arg548insGlyGlyGlyGlyGlyGlyGly)
gnomAD v4
4g.80202463_80202464insGGGGGGGGGGGGGGGGGGGGGCGGGGGCA1139771530PRDM8c.1001_1002insGGGGGGGGGGGGGGGGGGGGGCGGGGG (p.Gly334_Arg335insGlyGlyGlyGlyGlyGlyGlyGlyGly)
c.1004_1005insGGGGGGGGGGGGGGGGGGGGGCGGGGG (p.Gly335_Arg336insGlyGlyGlyGlyGlyGlyGlyGlyGly)
c.1844_1845insGGGGGGGGGGGGGGGGGGGGGCGGGGG (p.Gly615_Arg616insGlyGlyGlyGlyGlyGlyGlyGlyGly)
c.1841_1842insGGGGGGGGGGGGGGGGGGGGGCGGGGG (p.Gly614_Arg615insGlyGlyGlyGlyGlyGlyGlyGlyGly)
c.1703_1704insGGGGGGGGGGGGGGGGGGGGGCGGGGG (p.Gly568_Arg569insGlyGlyGlyGlyGlyGlyGlyGlyGly)
c.1556_1557insGGGGGGGGGGGGGGGGGGGGGCGGGGG (p.Gly519_Arg520insGlyGlyGlyGlyGlyGlyGlyGlyGly)
c.1418_1419insGGGGGGGGGGGGGGGGGGGGGCGGGGG (p.Gly473_Arg474insGlyGlyGlyGlyGlyGlyGlyGlyGly)
c.1397_1398insGGGGGGGGGGGGGGGGGGGGGCGGGGG (p.Gly466_Arg467insGlyGlyGlyGlyGlyGlyGlyGlyGly)
c.1553_1554insGGGGGGGGGGGGGGGGGGGGGCGGGGG (p.Gly518_Arg519insGlyGlyGlyGlyGlyGlyGlyGlyGly)
c.1640_1641insGGGGGGGGGGGGGGGGGGGGGCGGGGG (p.Gly547_Arg548insGlyGlyGlyGlyGlyGlyGlyGlyGly)
4g.80202463_80202464insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCA1139532980PRDM8c.1001_1002insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Arg335GlyfsTer?)
c.1004_1005insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Arg336GlyfsTer?)
c.1844_1845insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Arg616GlyfsTer?)
c.1841_1842insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Arg615GlyfsTer?)
c.1703_1704insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Arg569GlyfsTer?)
c.1556_1557insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Arg520GlyfsTer?)
c.1418_1419insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Arg474GlyfsTer?)
c.1397_1398insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Arg467GlyfsTer?)
c.1553_1554insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Arg519GlyfsTer?)
c.1640_1641insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Arg548GlyfsTer?)
4g.80202463_80202464insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGTGGTGGGGGCCGGGGGCA1139771531PRDM8c.1001_1002insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGTGGTGGGGGCCGGGGG (p.Arg335GlyfsTer?)
c.1004_1005insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGTGGTGGGGGCCGGGGG (p.Arg336GlyfsTer?)
c.1844_1845insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGTGGTGGGGGCCGGGGG (p.Arg616GlyfsTer?)
c.1841_1842insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGTGGTGGGGGCCGGGGG (p.Arg615GlyfsTer?)
c.1703_1704insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGTGGTGGGGGCCGGGGG (p.Arg569GlyfsTer?)
c.1556_1557insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGTGGTGGGGGCCGGGGG (p.Arg520GlyfsTer?)
c.1418_1419insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGTGGTGGGGGCCGGGGG (p.Arg474GlyfsTer?)
c.1397_1398insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGTGGTGGGGGCCGGGGG (p.Arg467GlyfsTer?)
c.1553_1554insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGTGGTGGGGGCCGGGGG (p.Arg519GlyfsTer?)
c.1640_1641insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGTGGTGGGGGCCGGGGG (p.Arg548GlyfsTer?)
4g.80202463_80202464insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGTGGGGGGGGGGGCA1139770965PRDM8c.1001_1002insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGTGGGGGGGGGGG (p.Gly334_Arg335insGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyTrpGlyGlyGlyGlyGly)
c.1004_1005insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGTGGGGGGGGGGG (p.Gly335_Arg336insGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyTrpGlyGlyGlyGlyGly)
c.1844_1845insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGTGGGGGGGGGGG (p.Gly615_Arg616insGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyTrpGlyGlyGlyGlyGly)
c.1841_1842insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGTGGGGGGGGGGG (p.Gly614_Arg615insGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyTrpGlyGlyGlyGlyGly)
c.1703_1704insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGTGGGGGGGGGGG (p.Gly568_Arg569insGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyTrpGlyGlyGlyGlyGly)
c.1556_1557insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGTGGGGGGGGGGG (p.Gly519_Arg520insGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyTrpGlyGlyGlyGlyGly)
c.1418_1419insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGTGGGGGGGGGGG (p.Gly473_Arg474insGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyTrpGlyGlyGlyGlyGly)
c.1397_1398insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGTGGGGGGGGGGG (p.Gly466_Arg467insGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyTrpGlyGlyGlyGlyGly)
c.1553_1554insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGTGGGGGGGGGGG (p.Gly518_Arg519insGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyTrpGlyGlyGlyGlyGly)
c.1640_1641insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGTGGGGGGGGGGG (p.Gly547_Arg548insGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyTrpGlyGlyGlyGlyGly)
4g.80202463_80202464insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGTTGTGGTGGGGGGGGGGGGCA2018007650PRDM8c.1001_1002insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGTTGTGGTGGGGGGGGGGGG (p.Arg335GlyfsTer?)
c.1004_1005insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGTTGTGGTGGGGGGGGGGGG (p.Arg336GlyfsTer?)
c.1844_1845insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGTTGTGGTGGGGGGGGGGGG (p.Arg616GlyfsTer?)
c.1841_1842insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGTTGTGGTGGGGGGGGGGGG (p.Arg615GlyfsTer?)
c.1703_1704insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGTTGTGGTGGGGGGGGGGGG (p.Arg569GlyfsTer?)
c.1556_1557insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGTTGTGGTGGGGGGGGGGGG (p.Arg520GlyfsTer?)
c.1418_1419insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGTTGTGGTGGGGGGGGGGGG (p.Arg474GlyfsTer?)
c.1397_1398insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGTTGTGGTGGGGGGGGGGGG (p.Arg467GlyfsTer?)
c.1553_1554insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGTTGTGGTGGGGGGGGGGGG (p.Arg519GlyfsTer?)
c.1640_1641insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGTTGTGGTGGGGGGGGGGGG (p.Arg548GlyfsTer?)
4g.80202463delCA2671177993PRDM8c.1001del (p.Gly334AlafsTer4)
c.1004del (p.Gly335AlafsTer4)
c.1844del (p.Gly615AlafsTer4)
c.1841del (p.Gly614AlafsTer4)
c.1703del (p.Gly568AlafsTer4)
c.1556del (p.Gly519AlafsTer4)
c.1418del (p.Gly473AlafsTer4)
c.1397del (p.Gly466AlafsTer4)
c.1553del (p.Gly518AlafsTer4)
c.1640del (p.Gly547AlafsTer4)
gnomAD v4
4g.80202461G>ACA440226920PRDM8c.999G>A (p.Arg333=)
c.1002G>A (p.Arg334=)
c.1842G>A (p.Arg614=)
c.1839G>A (p.Arg613=)
c.1701G>A (p.Arg567=)
c.1554G>A (p.Arg518=)
c.1416G>A (p.Arg472=)
c.1395G>A (p.Arg465=)
c.1551G>A (p.Arg517=)
c.1638G>A (p.Arg546=)
dbSNP gnomAD v2 gnomAD v4
4g.80202461G>CCA440226922PRDM8c.999G>C (p.Arg333=)
c.1002G>C (p.Arg334=)
c.1842G>C (p.Arg614=)
c.1839G>C (p.Arg613=)
c.1701G>C (p.Arg567=)
c.1554G>C (p.Arg518=)
c.1416G>C (p.Arg472=)
c.1395G>C (p.Arg465=)
c.1551G>C (p.Arg517=)
c.1638G>C (p.Arg546=)
4g.80202461G=CA1471293169PRDM8c.999G= (p.Arg333=)
c.1002G= (p.Arg334=)
c.1842G= (p.Arg614=)
c.1839G= (p.Arg613=)
c.1701G= (p.Arg567=)
c.1554G= (p.Arg518=)
c.1416G= (p.Arg472=)
c.1395G= (p.Arg465=)
c.1551G= (p.Arg517=)
c.1638G= (p.Arg546=)
4g.80202461G>TCA440226921PRDM8c.999G>T (p.Arg333=)
c.1002G>T (p.Arg334=)
c.1842G>T (p.Arg614=)
c.1839G>T (p.Arg613=)
c.1701G>T (p.Arg567=)
c.1554G>T (p.Arg518=)
c.1416G>T (p.Arg472=)
c.1395G>T (p.Arg465=)
c.1551G>T (p.Arg517=)
c.1638G>T (p.Arg546=)
gnomAD v4
4g.80202462G>ACA357397596PRDM8c.1000G>A (p.Gly334Ser)
c.1003G>A (p.Gly335Ser)
c.1843G>A (p.Gly615Ser)
c.1840G>A (p.Gly614Ser)
c.1702G>A (p.Gly568Ser)
c.1555G>A (p.Gly519Ser)
c.1417G>A (p.Gly473Ser)
c.1396G>A (p.Gly466Ser)
c.1552G>A (p.Gly518Ser)
c.1639G>A (p.Gly547Ser)
dbSNP gnomAD v4
4g.80202462G>CCA357397599PRDM8c.1000G>C (p.Gly334Arg)
c.1003G>C (p.Gly335Arg)
c.1843G>C (p.Gly615Arg)
c.1840G>C (p.Gly614Arg)
c.1702G>C (p.Gly568Arg)
c.1555G>C (p.Gly519Arg)
c.1417G>C (p.Gly473Arg)
c.1396G>C (p.Gly466Arg)
c.1552G>C (p.Gly518Arg)
c.1639G>C (p.Gly547Arg)
4g.80202462G>TCA357397607PRDM8c.1000G>T (p.Gly334Cys)
c.1003G>T (p.Gly335Cys)
c.1843G>T (p.Gly615Cys)
c.1840G>T (p.Gly614Cys)
c.1702G>T (p.Gly568Cys)
c.1555G>T (p.Gly519Cys)
c.1417G>T (p.Gly473Cys)
c.1396G>T (p.Gly466Cys)
c.1552G>T (p.Gly518Cys)
c.1639G>T (p.Gly547Cys)
gnomAD v4
4g.80202463_80202464insGGGGGGGGGGGGGGGGGGGGGGGTGGGGTGGGGGGCGGGGGCGGCA2481225693PRDM8c.1001_1002insGGGGGGGGGGGGGGGGGGGGGGGTGGGGTGGGGGGCGGGGGCGG (p.Arg335GlyfsTer18)
c.1004_1005insGGGGGGGGGGGGGGGGGGGGGGGTGGGGTGGGGGGCGGGGGCGG (p.Arg336GlyfsTer18)
c.1844_1845insGGGGGGGGGGGGGGGGGGGGGGGTGGGGTGGGGGGCGGGGGCGG (p.Arg616GlyfsTer18)
c.1841_1842insGGGGGGGGGGGGGGGGGGGGGGGTGGGGTGGGGGGCGGGGGCGG (p.Arg615GlyfsTer18)
c.1703_1704insGGGGGGGGGGGGGGGGGGGGGGGTGGGGTGGGGGGCGGGGGCGG (p.Arg569GlyfsTer18)
c.1556_1557insGGGGGGGGGGGGGGGGGGGGGGGTGGGGTGGGGGGCGGGGGCGG (p.Arg520GlyfsTer18)
c.1418_1419insGGGGGGGGGGGGGGGGGGGGGGGTGGGGTGGGGGGCGGGGGCGG (p.Arg474GlyfsTer18)
c.1397_1398insGGGGGGGGGGGGGGGGGGGGGGGTGGGGTGGGGGGCGGGGGCGG (p.Arg467GlyfsTer18)
c.1553_1554insGGGGGGGGGGGGGGGGGGGGGGGTGGGGTGGGGGGCGGGGGCGG (p.Arg519GlyfsTer18)
c.1640_1641insGGGGGGGGGGGGGGGGGGGGGGGTGGGGTGGGGGGCGGGGGCGG (p.Arg548GlyfsTer18)
4g.80202463G>ACA357397613PRDM8c.1001G>A (p.Gly334Asp)
c.1004G>A (p.Gly335Asp)
c.1844G>A (p.Gly615Asp)
c.1841G>A (p.Gly614Asp)
c.1703G>A (p.Gly568Asp)
c.1556G>A (p.Gly519Asp)
c.1418G>A (p.Gly473Asp)
c.1397G>A (p.Gly466Asp)
c.1553G>A (p.Gly518Asp)
c.1640G>A (p.Gly547Asp)
gnomAD v4
4g.80202463G>CCA357397616PRDM8c.1001G>C (p.Gly334Ala)
c.1004G>C (p.Gly335Ala)
c.1844G>C (p.Gly615Ala)
c.1841G>C (p.Gly614Ala)
c.1703G>C (p.Gly568Ala)
c.1556G>C (p.Gly519Ala)
c.1418G>C (p.Gly473Ala)
c.1397G>C (p.Gly466Ala)
c.1553G>C (p.Gly518Ala)
c.1640G>C (p.Gly547Ala)
4g.80202463G>TCA357397618PRDM8c.1001G>T (p.Gly334Val)
c.1004G>T (p.Gly335Val)
c.1844G>T (p.Gly615Val)
c.1841G>T (p.Gly614Val)
c.1703G>T (p.Gly568Val)
c.1556G>T (p.Gly519Val)
c.1418G>T (p.Gly473Val)
c.1397G>T (p.Gly466Val)
c.1553G>T (p.Gly518Val)
c.1640G>T (p.Gly547Val)
gnomAD v4
4g.80202463_80202464insGGGGGGGGGGGGGGGGGGGCCCCCCCA2671177996PRDM8c.1001_1002insGGGGGGGGGGGGGGGGGGGCCCCCC (p.Arg335GlyfsTer?)
c.1004_1005insGGGGGGGGGGGGGGGGGGGCCCCCC (p.Arg336GlyfsTer?)
c.1844_1845insGGGGGGGGGGGGGGGGGGGCCCCCC (p.Arg616GlyfsTer?)
c.1841_1842insGGGGGGGGGGGGGGGGGGGCCCCCC (p.Arg615GlyfsTer?)
c.1703_1704insGGGGGGGGGGGGGGGGGGGCCCCCC (p.Arg569GlyfsTer?)
c.1556_1557insGGGGGGGGGGGGGGGGGGGCCCCCC (p.Arg520GlyfsTer?)
c.1418_1419insGGGGGGGGGGGGGGGGGGGCCCCCC (p.Arg474GlyfsTer?)
c.1397_1398insGGGGGGGGGGGGGGGGGGGCCCCCC (p.Arg467GlyfsTer?)
c.1553_1554insGGGGGGGGGGGGGGGGGGGCCCCCC (p.Arg519GlyfsTer?)
c.1640_1641insGGGGGGGGGGGGGGGGGGGCCCCCC (p.Arg548GlyfsTer?)
gnomAD v4
4g.80202463_80202464insGGGGGGGGGGGGGGGGGGGCCCCCCCCCCCCCCCCCA2740546071PRDM8c.1001_1002insGGGGGGGGGGGGGGGGGGGCCCCCCCCCCCCCCCC (p.Arg335GlyfsTer15)
c.1004_1005insGGGGGGGGGGGGGGGGGGGCCCCCCCCCCCCCCCC (p.Arg336GlyfsTer15)
c.1844_1845insGGGGGGGGGGGGGGGGGGGCCCCCCCCCCCCCCCC (p.Arg616GlyfsTer15)
c.1841_1842insGGGGGGGGGGGGGGGGGGGCCCCCCCCCCCCCCCC (p.Arg615GlyfsTer15)
c.1703_1704insGGGGGGGGGGGGGGGGGGGCCCCCCCCCCCCCCCC (p.Arg569GlyfsTer15)
c.1556_1557insGGGGGGGGGGGGGGGGGGGCCCCCCCCCCCCCCCC (p.Arg520GlyfsTer15)
c.1418_1419insGGGGGGGGGGGGGGGGGGGCCCCCCCCCCCCCCCC (p.Arg474GlyfsTer15)
c.1397_1398insGGGGGGGGGGGGGGGGGGGCCCCCCCCCCCCCCCC (p.Arg467GlyfsTer15)
c.1553_1554insGGGGGGGGGGGGGGGGGGGCCCCCCCCCCCCCCCC (p.Arg519GlyfsTer15)
c.1640_1641insGGGGGGGGGGGGGGGGGGGCCCCCCCCCCCCCCCC (p.Arg548GlyfsTer15)
4g.80202463_80202464insGGGGGGGGGGGGGGGGGGGGCCCCCCCCCCCCCCCCCCA2671177998PRDM8c.1001_1002insGGGGGGGGGGGGGGGGGGGGCCCCCCCCCCCCCCCCC (p.Arg335GlyfsTer?)
c.1004_1005insGGGGGGGGGGGGGGGGGGGGCCCCCCCCCCCCCCCCC (p.Arg336GlyfsTer?)
c.1844_1845insGGGGGGGGGGGGGGGGGGGGCCCCCCCCCCCCCCCCC (p.Arg616GlyfsTer?)
c.1841_1842insGGGGGGGGGGGGGGGGGGGGCCCCCCCCCCCCCCCCC (p.Arg615GlyfsTer?)
c.1703_1704insGGGGGGGGGGGGGGGGGGGGCCCCCCCCCCCCCCCCC (p.Arg569GlyfsTer?)
c.1556_1557insGGGGGGGGGGGGGGGGGGGGCCCCCCCCCCCCCCCCC (p.Arg520GlyfsTer?)
c.1418_1419insGGGGGGGGGGGGGGGGGGGGCCCCCCCCCCCCCCCCC (p.Arg474GlyfsTer?)
c.1397_1398insGGGGGGGGGGGGGGGGGGGGCCCCCCCCCCCCCCCCC (p.Arg467GlyfsTer?)
c.1553_1554insGGGGGGGGGGGGGGGGGGGGCCCCCCCCCCCCCCCCC (p.Arg519GlyfsTer?)
c.1640_1641insGGGGGGGGGGGGGGGGGGGGCCCCCCCCCCCCCCCCC (p.Arg548GlyfsTer?)
gnomAD v4
4g.80202464C>ACA440226928PRDM8c.1002C>A (p.Gly334=)
c.1005C>A (p.Gly335=)
c.1845C>A (p.Gly615=)
c.1842C>A (p.Gly614=)
c.1704C>A (p.Gly568=)
c.1557C>A (p.Gly519=)
c.1419C>A (p.Gly473=)
c.1398C>A (p.Gly466=)
c.1554C>A (p.Gly518=)
c.1641C>A (p.Gly547=)
4g.80202464C=CA1471293171PRDM8c.1002C= (p.Gly334=)
c.1005C= (p.Gly335=)
c.1845C= (p.Gly615=)
c.1842C= (p.Gly614=)
c.1704C= (p.Gly568=)
c.1557C= (p.Gly519=)
c.1419C= (p.Gly473=)
c.1398C= (p.Gly466=)
c.1554C= (p.Gly518=)
c.1641C= (p.Gly547=)
4g.80202464C>GCA440226932PRDM8c.1002C>G (p.Gly334=)
c.1005C>G (p.Gly335=)
c.1845C>G (p.Gly615=)
c.1842C>G (p.Gly614=)
c.1704C>G (p.Gly568=)
c.1557C>G (p.Gly519=)
c.1419C>G (p.Gly473=)
c.1398C>G (p.Gly466=)
c.1554C>G (p.Gly518=)
c.1641C>G (p.Gly547=)
ClinVar gnomAD v4
4g.80202464C>TCA440226933PRDM8c.1002C>T (p.Gly334=)
c.1005C>T (p.Gly335=)
c.1845C>T (p.Gly615=)
c.1842C>T (p.Gly614=)
c.1704C>T (p.Gly568=)
c.1557C>T (p.Gly519=)
c.1419C>T (p.Gly473=)
c.1398C>T (p.Gly466=)
c.1554C>T (p.Gly518=)
c.1641C>T (p.Gly547=)
dbSNP gnomAD v2 gnomAD v4
4g.80202464_80202465insGCA2762347078PRDM8c.1002_1003insG (p.Arg335AlafsTer?)
c.1005_1006insG (p.Arg336AlafsTer?)
c.1845_1846insG (p.Arg616AlafsTer?)
c.1842_1843insG (p.Arg615AlafsTer?)
c.1704_1705insG (p.Arg569AlafsTer?)
c.1557_1558insG (p.Arg520AlafsTer?)
c.1419_1420insG (p.Arg474AlafsTer?)
c.1398_1399insG (p.Arg467AlafsTer?)
c.1554_1555insG (p.Arg519AlafsTer?)
c.1641_1642insG (p.Arg548AlafsTer?)
4g.80202465C>ACA357397620PRDM8c.1003C>A (p.Arg335Ser)
c.1006C>A (p.Arg336Ser)
c.1846C>A (p.Arg616Ser)
c.1843C>A (p.Arg615Ser)
c.1705C>A (p.Arg569Ser)
c.1558C>A (p.Arg520Ser)
c.1420C>A (p.Arg474Ser)
c.1399C>A (p.Arg467Ser)
c.1555C>A (p.Arg519Ser)
c.1642C>A (p.Arg548Ser)
4g.80202465C>GCA357397622PRDM8c.1003C>G (p.Arg335Gly)
c.1006C>G (p.Arg336Gly)
c.1846C>G (p.Arg616Gly)
c.1843C>G (p.Arg615Gly)
c.1705C>G (p.Arg569Gly)
c.1558C>G (p.Arg520Gly)
c.1420C>G (p.Arg474Gly)
c.1399C>G (p.Arg467Gly)
c.1555C>G (p.Arg519Gly)
c.1642C>G (p.Arg548Gly)
4g.80202465C>TCA357397623PRDM8c.1003C>T (p.Arg335Cys)
c.1006C>T (p.Arg336Cys)
c.1846C>T (p.Arg616Cys)
c.1843C>T (p.Arg615Cys)
c.1705C>T (p.Arg569Cys)
c.1558C>T (p.Arg520Cys)
c.1420C>T (p.Arg474Cys)
c.1399C>T (p.Arg467Cys)
c.1555C>T (p.Arg519Cys)
c.1642C>T (p.Arg548Cys)
4g.80202466G>ACA357397626PRDM8c.1004G>A (p.Arg335His)
c.1007G>A (p.Arg336His)
c.1847G>A (p.Arg616His)
c.1844G>A (p.Arg615His)
c.1706G>A (p.Arg569His)
c.1559G>A (p.Arg520His)
c.1421G>A (p.Arg474His)
c.1400G>A (p.Arg467His)
c.1556G>A (p.Arg519His)
c.1643G>A (p.Arg548His)
dbSNP gnomAD v2 gnomAD v4
4g.80202466G>CCA357397632PRDM8c.1004G>C (p.Arg335Pro)
c.1007G>C (p.Arg336Pro)
c.1847G>C (p.Arg616Pro)
c.1844G>C (p.Arg615Pro)
c.1706G>C (p.Arg569Pro)
c.1559G>C (p.Arg520Pro)
c.1421G>C (p.Arg474Pro)
c.1400G>C (p.Arg467Pro)
c.1556G>C (p.Arg519Pro)
c.1643G>C (p.Arg548Pro)
4g.80202466G=CA1471293175PRDM8c.1004G= (p.Arg335=)
c.1007G= (p.Arg336=)
c.1847G= (p.Arg616=)
c.1844G= (p.Arg615=)
c.1706G= (p.Arg569=)
c.1559G= (p.Arg520=)
c.1421G= (p.Arg474=)
c.1400G= (p.Arg467=)
c.1556G= (p.Arg519=)
c.1643G= (p.Arg548=)
4g.80202466G>TCA357397640PRDM8c.1004G>T (p.Arg335Leu)
c.1007G>T (p.Arg336Leu)
c.1847G>T (p.Arg616Leu)
c.1844G>T (p.Arg615Leu)
c.1706G>T (p.Arg569Leu)
c.1559G>T (p.Arg520Leu)
c.1421G>T (p.Arg474Leu)
c.1400G>T (p.Arg467Leu)
c.1556G>T (p.Arg519Leu)
c.1643G>T (p.Arg548Leu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.80202466_80202467insGGGGGGGGGCA2762347079PRDM8c.1004_1005insGGGGGGGGG (p.Arg335_Phe336insGlyGlyGly)
c.1007_1008insGGGGGGGGG (p.Arg336_Phe337insGlyGlyGly)
c.1847_1848insGGGGGGGGG (p.Arg616_Phe617insGlyGlyGly)
c.1844_1845insGGGGGGGGG (p.Arg615_Phe616insGlyGlyGly)
c.1706_1707insGGGGGGGGG (p.Arg569_Phe570insGlyGlyGly)
c.1559_1560insGGGGGGGGG (p.Arg520_Phe521insGlyGlyGly)
c.1421_1422insGGGGGGGGG (p.Arg474_Phe475insGlyGlyGly)
c.1400_1401insGGGGGGGGG (p.Arg467_Phe468insGlyGlyGly)
c.1556_1557insGGGGGGGGG (p.Arg519_Phe520insGlyGlyGly)
c.1643_1644insGGGGGGGGG (p.Arg548_Phe549insGlyGlyGly)
4g.80202467C>ACA100000645PRDM8c.1005C>A (p.Arg335=)
c.1008C>A (p.Arg336=)
c.1848C>A (p.Arg616=)
c.1845C>A (p.Arg615=)
c.1707C>A (p.Arg569=)
c.1560C>A (p.Arg520=)
c.1422C>A (p.Arg474=)
c.1401C>A (p.Arg467=)
c.1557C>A (p.Arg519=)
c.1644C>A (p.Arg548=)
dbSNP gnomAD v2 gnomAD v4
4g.80202467C=CA1471293180PRDM8c.1005C= (p.Arg335=)
c.1008C= (p.Arg336=)
c.1848C= (p.Arg616=)
c.1845C= (p.Arg615=)
c.1707C= (p.Arg569=)
c.1560C= (p.Arg520=)
c.1422C= (p.Arg474=)
c.1401C= (p.Arg467=)
c.1557C= (p.Arg519=)
c.1644C= (p.Arg548=)
4g.80202467C>GCA440226940PRDM8c.1005C>G (p.Arg335=)
c.1008C>G (p.Arg336=)
c.1848C>G (p.Arg616=)
c.1845C>G (p.Arg615=)
c.1707C>G (p.Arg569=)
c.1560C>G (p.Arg520=)
c.1422C>G (p.Arg474=)
c.1401C>G (p.Arg467=)
c.1557C>G (p.Arg519=)
c.1644C>G (p.Arg548=)
4g.80202467C>TCA440226939PRDM8c.1005C>T (p.Arg335=)
c.1008C>T (p.Arg336=)
c.1848C>T (p.Arg616=)
c.1845C>T (p.Arg615=)
c.1707C>T (p.Arg569=)
c.1560C>T (p.Arg520=)
c.1422C>T (p.Arg474=)
c.1401C>T (p.Arg467=)
c.1557C>T (p.Arg519=)
c.1644C>T (p.Arg548=)
dbSNP gnomAD v3 gnomAD v4
4g.80202468T>ACA357397651PRDM8c.1006T>A (p.Phe336Ile)
c.1009T>A (p.Phe337Ile)
c.1849T>A (p.Phe617Ile)
c.1846T>A (p.Phe616Ile)
c.1708T>A (p.Phe570Ile)
c.1561T>A (p.Phe521Ile)
c.1423T>A (p.Phe475Ile)
c.1402T>A (p.Phe468Ile)
c.1558T>A (p.Phe520Ile)
c.1645T>A (p.Phe549Ile)
4g.80202468T>CCA357397645PRDM8c.1006T>C (p.Phe336Leu)
c.1009T>C (p.Phe337Leu)
c.1849T>C (p.Phe617Leu)
c.1846T>C (p.Phe616Leu)
c.1708T>C (p.Phe570Leu)
c.1561T>C (p.Phe521Leu)
c.1423T>C (p.Phe475Leu)
c.1402T>C (p.Phe468Leu)
c.1558T>C (p.Phe520Leu)
c.1645T>C (p.Phe549Leu)
4g.80202468T>GCA357397649PRDM8c.1006T>G (p.Phe336Val)
c.1009T>G (p.Phe337Val)
c.1849T>G (p.Phe617Val)
c.1846T>G (p.Phe616Val)
c.1708T>G (p.Phe570Val)
c.1561T>G (p.Phe521Val)
c.1423T>G (p.Phe475Val)
c.1402T>G (p.Phe468Val)
c.1558T>G (p.Phe520Val)
c.1645T>G (p.Phe549Val)
ClinVar dbSNP gnomAD v3 gnomAD v4
4g.80202468T=CA1471293186PRDM8c.1006T= (p.Phe336=)
c.1009T= (p.Phe337=)
c.1849T= (p.Phe617=)
c.1846T= (p.Phe616=)
c.1708T= (p.Phe570=)
c.1561T= (p.Phe521=)
c.1423T= (p.Phe475=)
c.1402T= (p.Phe468=)
c.1558T= (p.Phe520=)
c.1645T= (p.Phe549=)
4g.80202469delCA2578127013PRDM8c.1007del (p.Phe336SerfsTer2)
c.1010del (p.Phe337SerfsTer2)
c.1850del (p.Phe617SerfsTer2)
c.1847del (p.Phe616SerfsTer2)
c.1709del (p.Phe570SerfsTer2)
c.1562del (p.Phe521SerfsTer2)
c.1424del (p.Phe475SerfsTer2)
c.1403del (p.Phe468SerfsTer2)
c.1559del (p.Phe520SerfsTer2)
c.1646del (p.Phe549SerfsTer2)
gnomAD v4
4g.80202468_80202470delinsTTCCA1471293187PRDM8c.1006_1008delinsTTC (p.Phe336=)
c.1009_1011delinsTTC (p.Phe337=)
c.1849_1851delinsTTC (p.Phe617=)
c.1846_1848delinsTTC (p.Phe616=)
c.1708_1710delinsTTC (p.Phe570=)
c.1561_1563delinsTTC (p.Phe521=)
c.1423_1425delinsTTC (p.Phe475=)
c.1402_1404delinsTTC (p.Phe468=)
c.1558_1560delinsTTC (p.Phe520=)
c.1645_1647delinsTTC (p.Phe549=)
4g.80202469T>ACA357397660PRDM8c.1007T>A (p.Phe336Tyr)
c.1010T>A (p.Phe337Tyr)
c.1850T>A (p.Phe617Tyr)
c.1847T>A (p.Phe616Tyr)
c.1709T>A (p.Phe570Tyr)
c.1562T>A (p.Phe521Tyr)
c.1424T>A (p.Phe475Tyr)
c.1403T>A (p.Phe468Tyr)
c.1559T>A (p.Phe520Tyr)
c.1646T>A (p.Phe549Tyr)
dbSNP
4g.80202469T>CCA357397672PRDM8c.1007T>C (p.Phe336Ser)
c.1010T>C (p.Phe337Ser)
c.1850T>C (p.Phe617Ser)
c.1847T>C (p.Phe616Ser)
c.1709T>C (p.Phe570Ser)
c.1562T>C (p.Phe521Ser)
c.1424T>C (p.Phe475Ser)
c.1403T>C (p.Phe468Ser)
c.1559T>C (p.Phe520Ser)
c.1646T>C (p.Phe549Ser)
4g.80202469T>GCA357397686PRDM8c.1007T>G (p.Phe336Cys)
c.1010T>G (p.Phe337Cys)
c.1850T>G (p.Phe617Cys)
c.1847T>G (p.Phe616Cys)
c.1709T>G (p.Phe570Cys)
c.1562T>G (p.Phe521Cys)
c.1424T>G (p.Phe475Cys)
c.1403T>G (p.Phe468Cys)
c.1559T>G (p.Phe520Cys)
c.1646T>G (p.Phe549Cys)
4g.80202469T=CA1471293191PRDM8c.1007T= (p.Phe336=)
c.1010T= (p.Phe337=)
c.1850T= (p.Phe617=)
c.1847T= (p.Phe616=)
c.1709T= (p.Phe570=)
c.1562T= (p.Phe521=)
c.1424T= (p.Phe475=)
c.1403T= (p.Phe468=)
c.1559T= (p.Phe520=)
c.1646T= (p.Phe549=)
4g.80202469_80202470delCA1471293190PRDM8c.1007_1008del (p.Phe336CysfsTer?)
c.1010_1011del (p.Phe337CysfsTer?)
c.1850_1851del (p.Phe617CysfsTer?)
c.1847_1848del (p.Phe616CysfsTer?)
c.1709_1710del (p.Phe570CysfsTer?)
c.1562_1563del (p.Phe521CysfsTer?)
c.1424_1425del (p.Phe475CysfsTer?)
c.1403_1404del (p.Phe468CysfsTer?)
c.1559_1560del (p.Phe520CysfsTer?)
c.1646_1647del (p.Phe549CysfsTer?)
dbSNP
4g.80202470C>ACA357397693PRDM8c.1008C>A (p.Phe336Leu)
c.1011C>A (p.Phe337Leu)
c.1851C>A (p.Phe617Leu)
c.1848C>A (p.Phe616Leu)
c.1710C>A (p.Phe570Leu)
c.1563C>A (p.Phe521Leu)
c.1425C>A (p.Phe475Leu)
c.1404C>A (p.Phe468Leu)
c.1560C>A (p.Phe520Leu)
c.1647C>A (p.Phe549Leu)
gnomAD v4
4g.80202470C=CA1471293194PRDM8c.1008C= (p.Phe336=)
c.1011C= (p.Phe337=)
c.1851C= (p.Phe617=)
c.1848C= (p.Phe616=)
c.1710C= (p.Phe570=)
c.1563C= (p.Phe521=)
c.1425C= (p.Phe475=)
c.1404C= (p.Phe468=)
c.1560C= (p.Phe520=)
c.1647C= (p.Phe549=)
4g.80202470C>GCA357397694PRDM8c.1008C>G (p.Phe336Leu)
c.1011C>G (p.Phe337Leu)
c.1851C>G (p.Phe617Leu)
c.1848C>G (p.Phe616Leu)
c.1710C>G (p.Phe570Leu)
c.1563C>G (p.Phe521Leu)
c.1425C>G (p.Phe475Leu)
c.1404C>G (p.Phe468Leu)
c.1560C>G (p.Phe520Leu)
c.1647C>G (p.Phe549Leu)
gnomAD v4
4g.80202470C>TCA100000649PRDM8c.1008C>T (p.Phe336=)
c.1011C>T (p.Phe337=)
c.1851C>T (p.Phe617=)
c.1848C>T (p.Phe616=)
c.1710C>T (p.Phe570=)
c.1563C>T (p.Phe521=)
c.1425C>T (p.Phe475=)
c.1404C>T (p.Phe468=)
c.1560C>T (p.Phe520=)
c.1647C>T (p.Phe549=)
dbSNP
4g.80202471delCA2671178006PRDM8c.1009del (p.Val337Ter)
c.1012del (p.Val338Ter)
c.1852del (p.Val618Ter)
c.1849del (p.Val617Ter)
c.1711del (p.Val571Ter)
c.1564del (p.Val522Ter)
c.1426del (p.Val476Ter)
c.1405del (p.Val469Ter)
c.1561del (p.Val521Ter)
c.1648del (p.Val550Ter)
gnomAD v4
4g.80202471G>ACA357397695PRDM8c.1009G>A (p.Val337Ile)
c.1012G>A (p.Val338Ile)
c.1852G>A (p.Val618Ile)
c.1849G>A (p.Val617Ile)
c.1711G>A (p.Val571Ile)
c.1564G>A (p.Val522Ile)
c.1426G>A (p.Val476Ile)
c.1405G>A (p.Val469Ile)
c.1561G>A (p.Val521Ile)
c.1648G>A (p.Val550Ile)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.80202471G>CCA357397696PRDM8c.1009G>C (p.Val337Leu)
c.1012G>C (p.Val338Leu)
c.1852G>C (p.Val618Leu)
c.1849G>C (p.Val617Leu)
c.1711G>C (p.Val571Leu)
c.1564G>C (p.Val522Leu)
c.1426G>C (p.Val476Leu)
c.1405G>C (p.Val469Leu)
c.1561G>C (p.Val521Leu)
c.1648G>C (p.Val550Leu)
dbSNP gnomAD v4
4g.80202471G=CA1471293200PRDM8c.1009G= (p.Val337=)
c.1012G= (p.Val338=)
c.1852G= (p.Val618=)
c.1849G= (p.Val617=)
c.1711G= (p.Val571=)
c.1564G= (p.Val522=)
c.1426G= (p.Val476=)
c.1405G= (p.Val469=)
c.1561G= (p.Val521=)
c.1648G= (p.Val550=)
4g.80202471G>TCA357397702PRDM8c.1009G>T (p.Val337Leu)
c.1012G>T (p.Val338Leu)
c.1852G>T (p.Val618Leu)
c.1849G>T (p.Val617Leu)
c.1711G>T (p.Val571Leu)
c.1564G>T (p.Val522Leu)
c.1426G>T (p.Val476Leu)
c.1405G>T (p.Val469Leu)
c.1561G>T (p.Val521Leu)
c.1648G>T (p.Val550Leu)
dbSNP gnomAD v2 gnomAD v4
4g.80202472T>ACA357397705PRDM8c.1010T>A (p.Val337Glu)
c.1013T>A (p.Val338Glu)
c.1853T>A (p.Val618Glu)
c.1850T>A (p.Val617Glu)
c.1712T>A (p.Val571Glu)
c.1565T>A (p.Val522Glu)
c.1427T>A (p.Val476Glu)
c.1406T>A (p.Val469Glu)
c.1562T>A (p.Val521Glu)
c.1649T>A (p.Val550Glu)
4g.80202472T>CCA357397709PRDM8c.1010T>C (p.Val337Ala)
c.1013T>C (p.Val338Ala)
c.1853T>C (p.Val618Ala)
c.1850T>C (p.Val617Ala)
c.1712T>C (p.Val571Ala)
c.1565T>C (p.Val522Ala)
c.1427T>C (p.Val476Ala)
c.1406T>C (p.Val469Ala)
c.1562T>C (p.Val521Ala)
c.1649T>C (p.Val550Ala)
gnomAD v4
4g.80202472T>GCA357397710PRDM8c.1010T>G (p.Val337Gly)
c.1013T>G (p.Val338Gly)
c.1853T>G (p.Val618Gly)
c.1850T>G (p.Val617Gly)
c.1712T>G (p.Val571Gly)
c.1565T>G (p.Val522Gly)
c.1427T>G (p.Val476Gly)
c.1406T>G (p.Val469Gly)
c.1562T>G (p.Val521Gly)
c.1649T>G (p.Val550Gly)
gnomAD v4
4g.80202472_80202473delCA2578127014PRDM8c.1010_1011del (p.Val337GlyfsTer?)
c.1013_1014del (p.Val338GlyfsTer?)
c.1853_1854del (p.Val618GlyfsTer?)
c.1850_1851del (p.Val617GlyfsTer?)
c.1712_1713del (p.Val571GlyfsTer?)
c.1565_1566del (p.Val522GlyfsTer?)
c.1427_1428del (p.Val476GlyfsTer?)
c.1406_1407del (p.Val469GlyfsTer?)
c.1562_1563del (p.Val521GlyfsTer?)
c.1649_1650del (p.Val550GlyfsTer?)
gnomAD v4
4g.80202473A=CA1471293206PRDM8c.1011A= (p.Val337=)
c.1014A= (p.Val338=)
c.1854A= (p.Val618=)
c.1851A= (p.Val617=)
c.1713A= (p.Val571=)
c.1566A= (p.Val522=)
c.1428A= (p.Val476=)
c.1407A= (p.Val469=)
c.1563A= (p.Val521=)
c.1650A= (p.Val550=)
4g.80202473A>CCA2982369PRDM8c.1011A>C (p.Val337=)
c.1014A>C (p.Val338=)
c.1854A>C (p.Val618=)
c.1851A>C (p.Val617=)
c.1713A>C (p.Val571=)
c.1566A>C (p.Val522=)
c.1428A>C (p.Val476=)
c.1407A>C (p.Val469=)
c.1563A>C (p.Val521=)
c.1650A>C (p.Val550=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.80202473A>GCA440226960PRDM8c.1011A>G (p.Val337=)
c.1014A>G (p.Val338=)
c.1854A>G (p.Val618=)
c.1851A>G (p.Val617=)
c.1713A>G (p.Val571=)
c.1566A>G (p.Val522=)
c.1428A>G (p.Val476=)
c.1407A>G (p.Val469=)
c.1563A>G (p.Val521=)
c.1650A>G (p.Val550=)
4g.80202473A>TCA440226962PRDM8c.1011A>T (p.Val337=)
c.1014A>T (p.Val338=)
c.1854A>T (p.Val618=)
c.1851A>T (p.Val617=)
c.1713A>T (p.Val571=)
c.1566A>T (p.Val522=)
c.1428A>T (p.Val476=)
c.1407A>T (p.Val469=)
c.1563A>T (p.Val521=)
c.1650A>T (p.Val550=)
4g.80202473_80202474delinsAGCA1471293209PRDM8c.1011_1012delinsAG (p.Val337=)
c.1014_1015delinsAG (p.Val338=)
c.1854_1855delinsAG (p.Val618=)
c.1851_1852delinsAG (p.Val617=)
c.1713_1714delinsAG (p.Val571=)
c.1566_1567delinsAG (p.Val522=)
c.1428_1429delinsAG (p.Val476=)
c.1407_1408delinsAG (p.Val469=)
c.1563_1564delinsAG (p.Val521=)
c.1650_1651delinsAG (p.Val550=)
4g.80202474delCA1471293216PRDM8c.1012del (p.Glu338SerfsTer?)
c.1015del (p.Glu339SerfsTer?)
c.1855del (p.Glu619SerfsTer?)
c.1852del (p.Glu618SerfsTer?)
c.1714del (p.Glu572SerfsTer?)
c.1567del (p.Glu523SerfsTer?)
c.1429del (p.Glu477SerfsTer?)
c.1408del (p.Glu470SerfsTer?)
c.1564del (p.Glu522SerfsTer?)
c.1651del (p.Glu551SerfsTer?)
dbSNP gnomAD v4
4g.80202474G>ACA357397721PRDM8c.1012G>A (p.Glu338Lys)
c.1015G>A (p.Glu339Lys)
c.1855G>A (p.Glu619Lys)
c.1852G>A (p.Glu618Lys)
c.1714G>A (p.Glu572Lys)
c.1567G>A (p.Glu523Lys)
c.1429G>A (p.Glu477Lys)
c.1408G>A (p.Glu470Lys)
c.1564G>A (p.Glu522Lys)
c.1651G>A (p.Glu551Lys)
4g.80202474G>CCA357397714PRDM8c.1012G>C (p.Glu338Gln)
c.1015G>C (p.Glu339Gln)
c.1855G>C (p.Glu619Gln)
c.1852G>C (p.Glu618Gln)
c.1714G>C (p.Glu572Gln)
c.1567G>C (p.Glu523Gln)
c.1429G>C (p.Glu477Gln)
c.1408G>C (p.Glu470Gln)
c.1564G>C (p.Glu522Gln)
c.1651G>C (p.Glu551Gln)
gnomAD v4
4g.80202474G>TCA357397725PRDM8c.1012G>T (p.Glu338Ter)
c.1015G>T (p.Glu339Ter)
c.1855G>T (p.Glu619Ter)
c.1852G>T (p.Glu618Ter)
c.1714G>T (p.Glu572Ter)
c.1567G>T (p.Glu523Ter)
c.1429G>T (p.Glu477Ter)
c.1408G>T (p.Glu470Ter)
c.1564G>T (p.Glu522Ter)
c.1651G>T (p.Glu551Ter)
gnomAD v4
4g.80202475A=CA1471293219PRDM8c.1013A= (p.Glu338=)
c.1016A= (p.Glu339=)
c.1856A= (p.Glu619=)
c.1853A= (p.Glu618=)
c.1715A= (p.Glu572=)
c.1568A= (p.Glu523=)
c.1430A= (p.Glu477=)
c.1409A= (p.Glu470=)
c.1565A= (p.Glu522=)
c.1652A= (p.Glu551=)
4g.80202475A>CCA357397727PRDM8c.1013A>C (p.Glu338Ala)
c.1016A>C (p.Glu339Ala)
c.1856A>C (p.Glu619Ala)
c.1853A>C (p.Glu618Ala)
c.1715A>C (p.Glu572Ala)
c.1568A>C (p.Glu523Ala)
c.1430A>C (p.Glu477Ala)
c.1409A>C (p.Glu470Ala)
c.1565A>C (p.Glu522Ala)
c.1652A>C (p.Glu551Ala)
ClinVar dbSNP gnomAD v4
4g.80202475A>GCA357397740PRDM8c.1013A>G (p.Glu338Gly)
c.1016A>G (p.Glu339Gly)
c.1856A>G (p.Glu619Gly)
c.1853A>G (p.Glu618Gly)
c.1715A>G (p.Glu572Gly)
c.1568A>G (p.Glu523Gly)
c.1430A>G (p.Glu477Gly)
c.1409A>G (p.Glu470Gly)
c.1565A>G (p.Glu522Gly)
c.1652A>G (p.Glu551Gly)
4g.80202475A>TCA357397730PRDM8c.1013A>T (p.Glu338Val)
c.1016A>T (p.Glu339Val)
c.1856A>T (p.Glu619Val)
c.1853A>T (p.Glu618Val)
c.1715A>T (p.Glu572Val)
c.1568A>T (p.Glu523Val)
c.1430A>T (p.Glu477Val)
c.1409A>T (p.Glu470Val)
c.1565A>T (p.Glu522Val)
c.1652A>T (p.Glu551Val)
4g.80202476G>ACA440226970PRDM8c.1014G>A (p.Glu338=)
c.1017G>A (p.Glu339=)
c.1857G>A (p.Glu619=)
c.1854G>A (p.Glu618=)
c.1716G>A (p.Glu572=)
c.1569G>A (p.Glu523=)
c.1431G>A (p.Glu477=)
c.1410G>A (p.Glu470=)
c.1566G>A (p.Glu522=)
c.1653G>A (p.Glu551=)
4g.80202476G>CCA357397742PRDM8c.1014G>C (p.Glu338Asp)
c.1017G>C (p.Glu339Asp)
c.1857G>C (p.Glu619Asp)
c.1854G>C (p.Glu618Asp)
c.1716G>C (p.Glu572Asp)
c.1569G>C (p.Glu523Asp)
c.1431G>C (p.Glu477Asp)
c.1410G>C (p.Glu470Asp)
c.1566G>C (p.Glu522Asp)
c.1653G>C (p.Glu551Asp)
4g.80202476G>TCA357397745PRDM8c.1014G>T (p.Glu338Asp)
c.1017G>T (p.Glu339Asp)
c.1857G>T (p.Glu619Asp)
c.1854G>T (p.Glu618Asp)
c.1716G>T (p.Glu572Asp)
c.1569G>T (p.Glu523Asp)
c.1431G>T (p.Glu477Asp)
c.1410G>T (p.Glu470Asp)
c.1566G>T (p.Glu522Asp)
c.1653G>T (p.Glu551Asp)
gnomAD v4
4g.80202477C>ACA440226971PRDM8c.1015C>A (p.Arg339=)
c.1018C>A (p.Arg340=)
c.1858C>A (p.Arg620=)
c.1855C>A (p.Arg619=)
c.1717C>A (p.Arg573=)
c.1570C>A (p.Arg524=)
c.1432C>A (p.Arg478=)
c.1411C>A (p.Arg471=)
c.1567C>A (p.Arg523=)
c.1654C>A (p.Arg552=)
gnomAD v4
4g.80202477C=CA1471293220PRDM8c.1015C= (p.Arg339=)
c.1018C= (p.Arg340=)
c.1858C= (p.Arg620=)
c.1855C= (p.Arg619=)
c.1717C= (p.Arg573=)
c.1570C= (p.Arg524=)
c.1432C= (p.Arg478=)
c.1411C= (p.Arg471=)
c.1567C= (p.Arg523=)
c.1654C= (p.Arg552=)
4g.80202477C>GCA357397747PRDM8c.1015C>G (p.Arg339Gly)
c.1018C>G (p.Arg340Gly)
c.1858C>G (p.Arg620Gly)
c.1855C>G (p.Arg619Gly)
c.1717C>G (p.Arg573Gly)
c.1570C>G (p.Arg524Gly)
c.1432C>G (p.Arg478Gly)
c.1411C>G (p.Arg471Gly)
c.1567C>G (p.Arg523Gly)
c.1654C>G (p.Arg552Gly)
4g.80202477C>TCA357397749PRDM8c.1015C>T (p.Arg339Trp)
c.1018C>T (p.Arg340Trp)
c.1858C>T (p.Arg620Trp)
c.1855C>T (p.Arg619Trp)
c.1717C>T (p.Arg573Trp)
c.1570C>T (p.Arg524Trp)
c.1432C>T (p.Arg478Trp)
c.1411C>T (p.Arg471Trp)
c.1567C>T (p.Arg523Trp)
c.1654C>T (p.Arg552Trp)
dbSNP gnomAD v2 gnomAD v4
4g.80202478G>ACA357397750PRDM8c.1016G>A (p.Arg339Gln)
c.1019G>A (p.Arg340Gln)
c.1859G>A (p.Arg620Gln)
c.1856G>A (p.Arg619Gln)
c.1718G>A (p.Arg573Gln)
c.1571G>A (p.Arg524Gln)
c.1433G>A (p.Arg478Gln)
c.1412G>A (p.Arg471Gln)
c.1568G>A (p.Arg523Gln)
c.1655G>A (p.Arg552Gln)
dbSNP gnomAD v2
4g.80202478G>CCA357397755PRDM8c.1016G>C (p.Arg339Pro)
c.1019G>C (p.Arg340Pro)
c.1859G>C (p.Arg620Pro)
c.1856G>C (p.Arg619Pro)
c.1718G>C (p.Arg573Pro)
c.1571G>C (p.Arg524Pro)
c.1433G>C (p.Arg478Pro)
c.1412G>C (p.Arg471Pro)
c.1568G>C (p.Arg523Pro)
c.1655G>C (p.Arg552Pro)
gnomAD v4
4g.80202478G=CA1471293223PRDM8c.1016G= (p.Arg339=)
c.1019G= (p.Arg340=)
c.1859G= (p.Arg620=)
c.1856G= (p.Arg619=)
c.1718G= (p.Arg573=)
c.1571G= (p.Arg524=)
c.1433G= (p.Arg478=)
c.1412G= (p.Arg471=)
c.1568G= (p.Arg523=)
c.1655G= (p.Arg552=)
4g.80202478G>TCA357397753PRDM8c.1016G>T (p.Arg339Leu)
c.1019G>T (p.Arg340Leu)
c.1859G>T (p.Arg620Leu)
c.1856G>T (p.Arg619Leu)
c.1718G>T (p.Arg573Leu)
c.1571G>T (p.Arg524Leu)
c.1433G>T (p.Arg478Leu)
c.1412G>T (p.Arg471Leu)
c.1568G>T (p.Arg523Leu)
c.1655G>T (p.Arg552Leu)
gnomAD v4
4g.80202479G>ACA440226981PRDM8c.1017G>A (p.Arg339=)
c.1020G>A (p.Arg340=)
c.1860G>A (p.Arg620=)
c.1857G>A (p.Arg619=)
c.1719G>A (p.Arg573=)
c.1572G>A (p.Arg524=)
c.1434G>A (p.Arg478=)
c.1413G>A (p.Arg471=)
c.1569G>A (p.Arg523=)
c.1656G>A (p.Arg552=)
dbSNP gnomAD v2 gnomAD v4
4g.80202479G>CCA440226982PRDM8c.1017G>C (p.Arg339=)
c.1020G>C (p.Arg340=)
c.1860G>C (p.Arg620=)
c.1857G>C (p.Arg619=)
c.1719G>C (p.Arg573=)
c.1572G>C (p.Arg524=)
c.1434G>C (p.Arg478=)
c.1413G>C (p.Arg471=)
c.1569G>C (p.Arg523=)
c.1656G>C (p.Arg552=)
4g.80202479G=CA1471293230PRDM8c.1017G= (p.Arg339=)
c.1020G= (p.Arg340=)
c.1860G= (p.Arg620=)
c.1857G= (p.Arg619=)
c.1719G= (p.Arg573=)
c.1572G= (p.Arg524=)
c.1434G= (p.Arg478=)
c.1413G= (p.Arg471=)
c.1569G= (p.Arg523=)
c.1656G= (p.Arg552=)
4g.80202479G>TCA100000663PRDM8c.1017G>T (p.Arg339=)
c.1020G>T (p.Arg340=)
c.1860G>T (p.Arg620=)
c.1857G>T (p.Arg619=)
c.1719G>T (p.Arg573=)
c.1572G>T (p.Arg524=)
c.1434G>T (p.Arg478=)
c.1413G>T (p.Arg471=)
c.1569G>T (p.Arg523=)
c.1656G>T (p.Arg552=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.80202479_80202480insGGGGGGGGGGGGGGGGGGGGGGGGTTGGGTCCCCCCCCA1139770266PRDM8c.1017_1018insGGGGGGGGGGGGGGGGGGGGGGGGTTGGGTCCCCCCC (p.Pro340GlyfsTer?)
c.1020_1021insGGGGGGGGGGGGGGGGGGGGGGGGTTGGGTCCCCCCC (p.Pro341GlyfsTer?)
c.1860_1861insGGGGGGGGGGGGGGGGGGGGGGGGTTGGGTCCCCCCC (p.Pro621GlyfsTer?)
c.1857_1858insGGGGGGGGGGGGGGGGGGGGGGGGTTGGGTCCCCCCC (p.Pro620GlyfsTer?)
c.1719_1720insGGGGGGGGGGGGGGGGGGGGGGGGTTGGGTCCCCCCC (p.Pro574GlyfsTer?)
c.1572_1573insGGGGGGGGGGGGGGGGGGGGGGGGTTGGGTCCCCCCC (p.Pro525GlyfsTer?)
c.1434_1435insGGGGGGGGGGGGGGGGGGGGGGGGTTGGGTCCCCCCC (p.Pro479GlyfsTer?)
c.1413_1414insGGGGGGGGGGGGGGGGGGGGGGGGTTGGGTCCCCCCC (p.Pro472GlyfsTer?)
c.1569_1570insGGGGGGGGGGGGGGGGGGGGGGGGTTGGGTCCCCCCC (p.Pro524GlyfsTer?)
c.1656_1657insGGGGGGGGGGGGGGGGGGGGGGGGTTGGGTCCCCCCC (p.Pro553GlyfsTer?)
4g.80202479_80202480insGGGGGGGGGGGGGGGGGGGGGGGGGGGGTTGGGGGCCCA2499307114PRDM8c.1017_1018insGGGGGGGGGGGGGGGGGGGGGGGGGGGGTTGGGGGCC (p.Pro340GlyfsTer?)
c.1020_1021insGGGGGGGGGGGGGGGGGGGGGGGGGGGGTTGGGGGCC (p.Pro341GlyfsTer?)
c.1860_1861insGGGGGGGGGGGGGGGGGGGGGGGGGGGGTTGGGGGCC (p.Pro621GlyfsTer?)
c.1857_1858insGGGGGGGGGGGGGGGGGGGGGGGGGGGGTTGGGGGCC (p.Pro620GlyfsTer?)
c.1719_1720insGGGGGGGGGGGGGGGGGGGGGGGGGGGGTTGGGGGCC (p.Pro574GlyfsTer?)
c.1572_1573insGGGGGGGGGGGGGGGGGGGGGGGGGGGGTTGGGGGCC (p.Pro525GlyfsTer?)
c.1434_1435insGGGGGGGGGGGGGGGGGGGGGGGGGGGGTTGGGGGCC (p.Pro479GlyfsTer?)
c.1413_1414insGGGGGGGGGGGGGGGGGGGGGGGGGGGGTTGGGGGCC (p.Pro472GlyfsTer?)
c.1569_1570insGGGGGGGGGGGGGGGGGGGGGGGGGGGGTTGGGGGCC (p.Pro524GlyfsTer?)
c.1656_1657insGGGGGGGGGGGGGGGGGGGGGGGGGGGGTTGGGGGCC (p.Pro553GlyfsTer?)
4g.80202480C>ACA357397758PRDM8c.1018C>A (p.Pro340Thr)
c.1021C>A (p.Pro341Thr)
c.1861C>A (p.Pro621Thr)
c.1858C>A (p.Pro620Thr)
c.1720C>A (p.Pro574Thr)
c.1573C>A (p.Pro525Thr)
c.1435C>A (p.Pro479Thr)
c.1414C>A (p.Pro472Thr)
c.1570C>A (p.Pro524Thr)
c.1657C>A (p.Pro553Thr)
gnomAD v4
4g.80202480C>GCA357397761PRDM8c.1018C>G (p.Pro340Ala)
c.1021C>G (p.Pro341Ala)
c.1861C>G (p.Pro621Ala)
c.1858C>G (p.Pro620Ala)
c.1720C>G (p.Pro574Ala)
c.1573C>G (p.Pro525Ala)
c.1435C>G (p.Pro479Ala)
c.1414C>G (p.Pro472Ala)
c.1570C>G (p.Pro524Ala)
c.1657C>G (p.Pro553Ala)
4g.80202480C>TCA357397762PRDM8c.1018C>T (p.Pro340Ser)
c.1021C>T (p.Pro341Ser)
c.1861C>T (p.Pro621Ser)
c.1858C>T (p.Pro620Ser)
c.1720C>T (p.Pro574Ser)
c.1573C>T (p.Pro525Ser)
c.1435C>T (p.Pro479Ser)
c.1414C>T (p.Pro472Ser)
c.1570C>T (p.Pro524Ser)
c.1657C>T (p.Pro553Ser)
gnomAD v4
4g.80202481C>ACA357397763PRDM8c.1019C>A (p.Pro340His)
c.1022C>A (p.Pro341His)
c.1862C>A (p.Pro621His)
c.1859C>A (p.Pro620His)
c.1721C>A (p.Pro574His)
c.1574C>A (p.Pro525His)
c.1436C>A (p.Pro479His)
c.1415C>A (p.Pro472His)
c.1571C>A (p.Pro524His)
c.1658C>A (p.Pro553His)
gnomAD v4
4g.80202481C=CA1471293237PRDM8c.1019C= (p.Pro340=)
c.1022C= (p.Pro341=)
c.1862C= (p.Pro621=)
c.1859C= (p.Pro620=)
c.1721C= (p.Pro574=)
c.1574C= (p.Pro525=)
c.1436C= (p.Pro479=)
c.1415C= (p.Pro472=)
c.1571C= (p.Pro524=)
c.1658C= (p.Pro553=)
4g.80202481C>GCA357397764PRDM8c.1019C>G (p.Pro340Arg)
c.1022C>G (p.Pro341Arg)
c.1862C>G (p.Pro621Arg)
c.1859C>G (p.Pro620Arg)
c.1721C>G (p.Pro574Arg)
c.1574C>G (p.Pro525Arg)
c.1436C>G (p.Pro479Arg)
c.1415C>G (p.Pro472Arg)
c.1571C>G (p.Pro524Arg)
c.1658C>G (p.Pro553Arg)
dbSNP gnomAD v2 gnomAD v4
4g.80202481C>TCA357397765PRDM8c.1019C>T (p.Pro340Leu)
c.1022C>T (p.Pro341Leu)
c.1862C>T (p.Pro621Leu)
c.1859C>T (p.Pro620Leu)
c.1721C>T (p.Pro574Leu)
c.1574C>T (p.Pro525Leu)
c.1436C>T (p.Pro479Leu)
c.1415C>T (p.Pro472Leu)
c.1571C>T (p.Pro524Leu)
c.1658C>T (p.Pro553Leu)
dbSNP gnomAD v2 gnomAD v4
4g.80202482C>ACA440226991PRDM8c.1020C>A (p.Pro340=)
c.1023C>A (p.Pro341=)
c.1863C>A (p.Pro621=)
c.1860C>A (p.Pro620=)
c.1722C>A (p.Pro574=)
c.1575C>A (p.Pro525=)
c.1437C>A (p.Pro479=)
c.1416C>A (p.Pro472=)
c.1572C>A (p.Pro524=)
c.1659C>A (p.Pro553=)
4g.80202482C=CA1471293241PRDM8c.1020C= (p.Pro340=)
c.1023C= (p.Pro341=)
c.1863C= (p.Pro621=)
c.1860C= (p.Pro620=)
c.1722C= (p.Pro574=)
c.1575C= (p.Pro525=)
c.1437C= (p.Pro479=)
c.1416C= (p.Pro472=)
c.1572C= (p.Pro524=)
c.1659C= (p.Pro553=)
4g.80202482C>GCA440226993PRDM8c.1020C>G (p.Pro340=)
c.1023C>G (p.Pro341=)
c.1863C>G (p.Pro621=)
c.1860C>G (p.Pro620=)
c.1722C>G (p.Pro574=)
c.1575C>G (p.Pro525=)
c.1437C>G (p.Pro479=)
c.1416C>G (p.Pro472=)
c.1572C>G (p.Pro524=)
c.1659C>G (p.Pro553=)
4g.80202482C>TCA440226996PRDM8c.1020C>T (p.Pro340=)
c.1023C>T (p.Pro341=)
c.1863C>T (p.Pro621=)
c.1860C>T (p.Pro620=)
c.1722C>T (p.Pro574=)
c.1575C>T (p.Pro525=)
c.1437C>T (p.Pro479=)
c.1416C>T (p.Pro472=)
c.1572C>T (p.Pro524=)
c.1659C>T (p.Pro553=)
dbSNP gnomAD v2 gnomAD v4
4g.80202483C>ACA357397766PRDM8c.1021C>A (p.Leu341Ile)
c.1024C>A (p.Leu342Ile)
c.1864C>A (p.Leu622Ile)
c.1861C>A (p.Leu621Ile)
c.1723C>A (p.Leu575Ile)
c.1576C>A (p.Leu526Ile)
c.1438C>A (p.Leu480Ile)
c.1417C>A (p.Leu473Ile)
c.1573C>A (p.Leu525Ile)
c.1660C>A (p.Leu554Ile)
gnomAD v4
4g.80202483C>GCA357397768PRDM8c.1021C>G (p.Leu341Val)
c.1024C>G (p.Leu342Val)
c.1864C>G (p.Leu622Val)
c.1861C>G (p.Leu621Val)
c.1723C>G (p.Leu575Val)
c.1576C>G (p.Leu526Val)
c.1438C>G (p.Leu480Val)
c.1417C>G (p.Leu473Val)
c.1573C>G (p.Leu525Val)
c.1660C>G (p.Leu554Val)
4g.80202483C>TCA357397782PRDM8c.1021C>T (p.Leu341Phe)
c.1024C>T (p.Leu342Phe)
c.1864C>T (p.Leu622Phe)
c.1861C>T (p.Leu621Phe)
c.1723C>T (p.Leu575Phe)
c.1576C>T (p.Leu526Phe)
c.1438C>T (p.Leu480Phe)
c.1417C>T (p.Leu473Phe)
c.1573C>T (p.Leu525Phe)
c.1660C>T (p.Leu554Phe)
gnomAD v4
4g.80202484T>ACA357397789PRDM8c.1022T>A (p.Leu341His)
c.1025T>A (p.Leu342His)
c.1865T>A (p.Leu622His)
c.1862T>A (p.Leu621His)
c.1724T>A (p.Leu575His)
c.1577T>A (p.Leu526His)
c.1439T>A (p.Leu480His)
c.1418T>A (p.Leu473His)
c.1574T>A (p.Leu525His)
c.1661T>A (p.Leu554His)
dbSNP gnomAD v4
4g.80202484T>CCA357397791PRDM8c.1022T>C (p.Leu341Pro)
c.1025T>C (p.Leu342Pro)
c.1865T>C (p.Leu622Pro)
c.1862T>C (p.Leu621Pro)
c.1724T>C (p.Leu575Pro)
c.1577T>C (p.Leu526Pro)
c.1439T>C (p.Leu480Pro)
c.1418T>C (p.Leu473Pro)
c.1574T>C (p.Leu525Pro)
c.1661T>C (p.Leu554Pro)
dbSNP
4g.80202484T>GCA357397792PRDM8c.1022T>G (p.Leu341Arg)
c.1025T>G (p.Leu342Arg)
c.1865T>G (p.Leu622Arg)
c.1862T>G (p.Leu621Arg)
c.1724T>G (p.Leu575Arg)
c.1577T>G (p.Leu526Arg)
c.1439T>G (p.Leu480Arg)
c.1418T>G (p.Leu473Arg)
c.1574T>G (p.Leu525Arg)
c.1661T>G (p.Leu554Arg)
4g.80202485C>ACA440227005PRDM8c.1023C>A (p.Leu341=)
c.1026C>A (p.Leu342=)
c.1866C>A (p.Leu622=)
c.1863C>A (p.Leu621=)
c.1725C>A (p.Leu575=)
c.1578C>A (p.Leu526=)
c.1440C>A (p.Leu480=)
c.1419C>A (p.Leu473=)
c.1575C>A (p.Leu525=)
c.1662C>A (p.Leu554=)
gnomAD v4
4g.80202485C=CA1471293249PRDM8c.1023C= (p.Leu341=)
c.1026C= (p.Leu342=)
c.1866C= (p.Leu622=)
c.1863C= (p.Leu621=)
c.1725C= (p.Leu575=)
c.1578C= (p.Leu526=)
c.1440C= (p.Leu480=)
c.1419C= (p.Leu473=)
c.1575C= (p.Leu525=)
c.1662C= (p.Leu554=)
4g.80202485C>GCA440227007PRDM8c.1023C>G (p.Leu341=)
c.1026C>G (p.Leu342=)
c.1866C>G (p.Leu622=)
c.1863C>G (p.Leu621=)
c.1725C>G (p.Leu575=)
c.1578C>G (p.Leu526=)
c.1440C>G (p.Leu480=)
c.1419C>G (p.Leu473=)
c.1575C>G (p.Leu525=)
c.1662C>G (p.Leu554=)
dbSNP
4g.80202485C>TCA440227010PRDM8c.1023C>T (p.Leu341=)
c.1026C>T (p.Leu342=)
c.1866C>T (p.Leu622=)
c.1863C>T (p.Leu621=)
c.1725C>T (p.Leu575=)
c.1578C>T (p.Leu526=)
c.1440C>T (p.Leu480=)
c.1419C>T (p.Leu473=)
c.1575C>T (p.Leu525=)
c.1662C>T (p.Leu554=)
4g.80202486C>ACA2982370PRDM8c.1024C>A (p.Pro342Thr)
c.1027C>A (p.Pro343Thr)
c.1867C>A (p.Pro623Thr)
c.1864C>A (p.Pro622Thr)
c.1726C>A (p.Pro576Thr)
c.1579C>A (p.Pro527Thr)
c.1441C>A (p.Pro481Thr)
c.1420C>A (p.Pro474Thr)
c.1576C>A (p.Pro526Thr)
c.1663C>A (p.Pro555Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.80202486C=CA1471293252PRDM8c.1024C= (p.Pro342=)
c.1027C= (p.Pro343=)
c.1867C= (p.Pro623=)
c.1864C= (p.Pro622=)
c.1726C= (p.Pro576=)
c.1579C= (p.Pro527=)
c.1441C= (p.Pro481=)
c.1420C= (p.Pro474=)
c.1576C= (p.Pro526=)
c.1663C= (p.Pro555=)
4g.80202486C>GCA357397796PRDM8c.1024C>G (p.Pro342Ala)
c.1027C>G (p.Pro343Ala)
c.1867C>G (p.Pro623Ala)
c.1864C>G (p.Pro622Ala)
c.1726C>G (p.Pro576Ala)
c.1579C>G (p.Pro527Ala)
c.1441C>G (p.Pro481Ala)
c.1420C>G (p.Pro474Ala)
c.1576C>G (p.Pro526Ala)
c.1663C>G (p.Pro555Ala)
4g.80202486C>TCA357397794PRDM8c.1024C>T (p.Pro342Ser)
c.1027C>T (p.Pro343Ser)
c.1867C>T (p.Pro623Ser)
c.1864C>T (p.Pro622Ser)
c.1726C>T (p.Pro576Ser)
c.1579C>T (p.Pro527Ser)
c.1441C>T (p.Pro481Ser)
c.1420C>T (p.Pro474Ser)
c.1576C>T (p.Pro526Ser)
c.1663C>T (p.Pro555Ser)
4g.80202487C>ACA357397808PRDM8c.1025C>A (p.Pro342Gln)
c.1028C>A (p.Pro343Gln)
c.1868C>A (p.Pro623Gln)
c.1865C>A (p.Pro622Gln)
c.1727C>A (p.Pro576Gln)
c.1580C>A (p.Pro527Gln)
c.1442C>A (p.Pro481Gln)
c.1421C>A (p.Pro474Gln)
c.1577C>A (p.Pro526Gln)
c.1664C>A (p.Pro555Gln)
dbSNP gnomAD v4
4g.80202487C=CA1471293260PRDM8c.1025C= (p.Pro342=)
c.1028C= (p.Pro343=)
c.1868C= (p.Pro623=)
c.1865C= (p.Pro622=)
c.1727C= (p.Pro576=)
c.1580C= (p.Pro527=)
c.1442C= (p.Pro481=)
c.1421C= (p.Pro474=)
c.1577C= (p.Pro526=)
c.1664C= (p.Pro555=)
4g.80202487C>GCA357397810PRDM8c.1025C>G (p.Pro342Arg)
c.1028C>G (p.Pro343Arg)
c.1868C>G (p.Pro623Arg)
c.1865C>G (p.Pro622Arg)
c.1727C>G (p.Pro576Arg)
c.1580C>G (p.Pro527Arg)
c.1442C>G (p.Pro481Arg)
c.1421C>G (p.Pro474Arg)
c.1577C>G (p.Pro526Arg)
c.1664C>G (p.Pro555Arg)
dbSNP gnomAD v2 gnomAD v4
4g.80202487C>TCA357397812PRDM8c.1025C>T (p.Pro342Leu)
c.1028C>T (p.Pro343Leu)
c.1868C>T (p.Pro623Leu)
c.1865C>T (p.Pro622Leu)
c.1727C>T (p.Pro576Leu)
c.1580C>T (p.Pro527Leu)
c.1442C>T (p.Pro481Leu)
c.1421C>T (p.Pro474Leu)
c.1577C>T (p.Pro526Leu)
c.1664C>T (p.Pro555Leu)
ClinVar dbSNP gnomAD v4
4g.80202488G>ACA440227020PRDM8c.1026G>A (p.Pro342=)
c.1029G>A (p.Pro343=)
c.1869G>A (p.Pro623=)
c.1866G>A (p.Pro622=)
c.1728G>A (p.Pro576=)
c.1581G>A (p.Pro527=)
c.1443G>A (p.Pro481=)
c.1422G>A (p.Pro474=)
c.1578G>A (p.Pro526=)
c.1665G>A (p.Pro555=)
dbSNP gnomAD v2 gnomAD v4
4g.80202488G>CCA440227023PRDM8c.1026G>C (p.Pro342=)
c.1029G>C (p.Pro343=)
c.1869G>C (p.Pro623=)
c.1866G>C (p.Pro622=)
c.1728G>C (p.Pro576=)
c.1581G>C (p.Pro527=)
c.1443G>C (p.Pro481=)
c.1422G>C (p.Pro474=)
c.1578G>C (p.Pro526=)
c.1665G>C (p.Pro555=)
dbSNP gnomAD v4
4g.80202488G=CA1471293264PRDM8c.1026G= (p.Pro342=)
c.1029G= (p.Pro343=)
c.1869G= (p.Pro623=)
c.1866G= (p.Pro622=)
c.1728G= (p.Pro576=)
c.1581G= (p.Pro527=)
c.1443G= (p.Pro481=)
c.1422G= (p.Pro474=)
c.1578G= (p.Pro526=)
c.1665G= (p.Pro555=)
4g.80202488G>TCA440227025PRDM8c.1026G>T (p.Pro342=)
c.1029G>T (p.Pro343=)
c.1869G>T (p.Pro623=)
c.1866G>T (p.Pro622=)
c.1728G>T (p.Pro576=)
c.1581G>T (p.Pro527=)
c.1443G>T (p.Pro481=)
c.1422G>T (p.Pro474=)
c.1578G>T (p.Pro526=)
c.1665G>T (p.Pro555=)
gnomAD v4
4g.80202489G>ACA357397815PRDM8c.1027G>A (p.Ala343Thr)
c.1030G>A (p.Ala344Thr)
c.1870G>A (p.Ala624Thr)
c.1867G>A (p.Ala623Thr)
c.1729G>A (p.Ala577Thr)
c.1582G>A (p.Ala528Thr)
c.1444G>A (p.Ala482Thr)
c.1423G>A (p.Ala475Thr)
c.1579G>A (p.Ala527Thr)
c.1666G>A (p.Ala556Thr)
gnomAD v4
4g.80202489G>CCA357397817PRDM8c.1027G>C (p.Ala343Pro)
c.1030G>C (p.Ala344Pro)
c.1870G>C (p.Ala624Pro)
c.1867G>C (p.Ala623Pro)
c.1729G>C (p.Ala577Pro)
c.1582G>C (p.Ala528Pro)
c.1444G>C (p.Ala482Pro)
c.1423G>C (p.Ala475Pro)
c.1579G>C (p.Ala527Pro)
c.1666G>C (p.Ala556Pro)
4g.80202489G=CA1471293267PRDM8c.1027G= (p.Ala343=)
c.1030G= (p.Ala344=)
c.1870G= (p.Ala624=)
c.1867G= (p.Ala623=)
c.1729G= (p.Ala577=)
c.1582G= (p.Ala528=)
c.1444G= (p.Ala482=)
c.1423G= (p.Ala475=)
c.1579G= (p.Ala527=)
c.1666G= (p.Ala556=)
4g.80202489G>TCA357397818PRDM8c.1027G>T (p.Ala343Ser)
c.1030G>T (p.Ala344Ser)
c.1870G>T (p.Ala624Ser)
c.1867G>T (p.Ala623Ser)
c.1729G>T (p.Ala577Ser)
c.1582G>T (p.Ala528Ser)
c.1444G>T (p.Ala482Ser)
c.1423G>T (p.Ala475Ser)
c.1579G>T (p.Ala527Ser)
c.1666G>T (p.Ala556Ser)
dbSNP gnomAD v3 gnomAD v4
4g.80202490C>ACA357397821PRDM8c.1028C>A (p.Ala343Asp)
c.1031C>A (p.Ala344Asp)
c.1871C>A (p.Ala624Asp)
c.1868C>A (p.Ala623Asp)
c.1730C>A (p.Ala577Asp)
c.1583C>A (p.Ala528Asp)
c.1445C>A (p.Ala482Asp)
c.1424C>A (p.Ala475Asp)
c.1580C>A (p.Ala527Asp)
c.1667C>A (p.Ala556Asp)
gnomAD v4
4g.80202490C=CA1471293270PRDM8c.1028C= (p.Ala343=)
c.1031C= (p.Ala344=)
c.1871C= (p.Ala624=)
c.1868C= (p.Ala623=)
c.1730C= (p.Ala577=)
c.1583C= (p.Ala528=)
c.1445C= (p.Ala482=)
c.1424C= (p.Ala475=)
c.1580C= (p.Ala527=)
c.1667C= (p.Ala556=)
4g.80202490C>GCA357397822PRDM8c.1028C>G (p.Ala343Gly)
c.1031C>G (p.Ala344Gly)
c.1871C>G (p.Ala624Gly)
c.1868C>G (p.Ala623Gly)
c.1730C>G (p.Ala577Gly)
c.1583C>G (p.Ala528Gly)
c.1445C>G (p.Ala482Gly)
c.1424C>G (p.Ala475Gly)
c.1580C>G (p.Ala527Gly)
c.1667C>G (p.Ala556Gly)
4g.80202490C>TCA357397823PRDM8c.1028C>T (p.Ala343Val)
c.1031C>T (p.Ala344Val)
c.1871C>T (p.Ala624Val)
c.1868C>T (p.Ala623Val)
c.1730C>T (p.Ala577Val)
c.1583C>T (p.Ala528Val)
c.1445C>T (p.Ala482Val)
c.1424C>T (p.Ala475Val)
c.1580C>T (p.Ala527Val)
c.1667C>T (p.Ala556Val)
dbSNP gnomAD v4 COSMIC
4g.80202491C>ACA440227029PRDM8c.1029C>A (p.Ala343=)
c.1032C>A (p.Ala344=)
c.1872C>A (p.Ala624=)
c.1869C>A (p.Ala623=)
c.1731C>A (p.Ala577=)
c.1584C>A (p.Ala528=)
c.1446C>A (p.Ala482=)
c.1425C>A (p.Ala475=)
c.1581C>A (p.Ala527=)
c.1668C>A (p.Ala556=)
4g.80202491C>GCA440227030PRDM8c.1029C>G (p.Ala343=)
c.1032C>G (p.Ala344=)
c.1872C>G (p.Ala624=)
c.1869C>G (p.Ala623=)
c.1731C>G (p.Ala577=)
c.1584C>G (p.Ala528=)
c.1446C>G (p.Ala482=)
c.1425C>G (p.Ala475=)
c.1581C>G (p.Ala527=)
c.1668C>G (p.Ala556=)
4g.80202491C>TCA440227033PRDM8c.1029C>T (p.Ala343=)
c.1032C>T (p.Ala344=)
c.1872C>T (p.Ala624=)
c.1869C>T (p.Ala623=)
c.1731C>T (p.Ala577=)
c.1584C>T (p.Ala528=)
c.1446C>T (p.Ala482=)
c.1425C>T (p.Ala475=)
c.1581C>T (p.Ala527=)
c.1668C>T (p.Ala556=)
4g.80202492T>ACA357397825PRDM8c.1030T>A (p.Ser344Thr)
c.1033T>A (p.Ser345Thr)
c.1873T>A (p.Ser625Thr)
c.1870T>A (p.Ser624Thr)
c.1732T>A (p.Ser578Thr)
c.1585T>A (p.Ser529Thr)
c.1447T>A (p.Ser483Thr)
c.1426T>A (p.Ser476Thr)
c.1582T>A (p.Ser528Thr)
c.1669T>A (p.Ser557Thr)
gnomAD v4
4g.80202492T>CCA357397826PRDM8c.1030T>C (p.Ser344Pro)
c.1033T>C (p.Ser345Pro)
c.1873T>C (p.Ser625Pro)
c.1870T>C (p.Ser624Pro)
c.1732T>C (p.Ser578Pro)
c.1585T>C (p.Ser529Pro)
c.1447T>C (p.Ser483Pro)
c.1426T>C (p.Ser476Pro)
c.1582T>C (p.Ser528Pro)
c.1669T>C (p.Ser557Pro)
dbSNP
4g.80202492T>GCA357397824PRDM8c.1030T>G (p.Ser344Ala)
c.1033T>G (p.Ser345Ala)
c.1873T>G (p.Ser625Ala)
c.1870T>G (p.Ser624Ala)
c.1732T>G (p.Ser578Ala)
c.1585T>G (p.Ser529Ala)
c.1447T>G (p.Ser483Ala)
c.1426T>G (p.Ser476Ala)
c.1582T>G (p.Ser528Ala)
c.1669T>G (p.Ser557Ala)
4g.80202493C>ACA357397827PRDM8c.1031C>A (p.Ser344Tyr)
c.1034C>A (p.Ser345Tyr)
c.1874C>A (p.Ser625Tyr)
c.1871C>A (p.Ser624Tyr)
c.1733C>A (p.Ser578Tyr)
c.1586C>A (p.Ser529Tyr)
c.1448C>A (p.Ser483Tyr)
c.1427C>A (p.Ser476Tyr)
c.1583C>A (p.Ser528Tyr)
c.1670C>A (p.Ser557Tyr)
4g.80202493C>GCA357397829PRDM8c.1031C>G (p.Ser344Cys)
c.1034C>G (p.Ser345Cys)
c.1874C>G (p.Ser625Cys)
c.1871C>G (p.Ser624Cys)
c.1733C>G (p.Ser578Cys)
c.1586C>G (p.Ser529Cys)
c.1448C>G (p.Ser483Cys)
c.1427C>G (p.Ser476Cys)
c.1583C>G (p.Ser528Cys)
c.1670C>G (p.Ser557Cys)
4g.80202493C>TCA357397831PRDM8c.1031C>T (p.Ser344Phe)
c.1034C>T (p.Ser345Phe)
c.1874C>T (p.Ser625Phe)
c.1871C>T (p.Ser624Phe)
c.1733C>T (p.Ser578Phe)
c.1586C>T (p.Ser529Phe)
c.1448C>T (p.Ser483Phe)
c.1427C>T (p.Ser476Phe)
c.1583C>T (p.Ser528Phe)
c.1670C>T (p.Ser557Phe)
4g.80202494C>ACA440227039PRDM8c.1032C>A (p.Ser344=)
c.1035C>A (p.Ser345=)
c.1875C>A (p.Ser625=)
c.1872C>A (p.Ser624=)
c.1734C>A (p.Ser578=)
c.1587C>A (p.Ser529=)
c.1449C>A (p.Ser483=)
c.1428C>A (p.Ser476=)
c.1584C>A (p.Ser528=)
c.1671C>A (p.Ser557=)
4g.80202494C>GCA440227041PRDM8c.1032C>G (p.Ser344=)
c.1035C>G (p.Ser345=)
c.1875C>G (p.Ser625=)
c.1872C>G (p.Ser624=)
c.1734C>G (p.Ser578=)
c.1587C>G (p.Ser529=)
c.1449C>G (p.Ser483=)
c.1428C>G (p.Ser476=)
c.1584C>G (p.Ser528=)
c.1671C>G (p.Ser557=)
4g.80202494C>TCA440227042PRDM8c.1032C>T (p.Ser344=)
c.1035C>T (p.Ser345=)
c.1875C>T (p.Ser625=)
c.1872C>T (p.Ser624=)
c.1734C>T (p.Ser578=)
c.1587C>T (p.Ser529=)
c.1449C>T (p.Ser483=)
c.1428C>T (p.Ser476=)
c.1584C>T (p.Ser528=)
c.1671C>T (p.Ser557=)
4g.80202495A>CCA357397832PRDM8c.1033A>C (p.Lys345Gln)
c.1036A>C (p.Lys346Gln)
c.1876A>C (p.Lys626Gln)
c.1873A>C (p.Lys625Gln)
c.1735A>C (p.Lys579Gln)
c.1588A>C (p.Lys530Gln)
c.1450A>C (p.Lys484Gln)
c.1429A>C (p.Lys477Gln)
c.1585A>C (p.Lys529Gln)
c.1672A>C (p.Lys558Gln)
4g.80202495A>GCA357397834PRDM8c.1033A>G (p.Lys345Glu)
c.1036A>G (p.Lys346Glu)
c.1876A>G (p.Lys626Glu)
c.1873A>G (p.Lys625Glu)
c.1735A>G (p.Lys579Glu)
c.1588A>G (p.Lys530Glu)
c.1450A>G (p.Lys484Glu)
c.1429A>G (p.Lys477Glu)
c.1585A>G (p.Lys529Glu)
c.1672A>G (p.Lys558Glu)
gnomAD v4
4g.80202495A>TCA357397836PRDM8c.1033A>T (p.Lys345Ter)
c.1036A>T (p.Lys346Ter)
c.1876A>T (p.Lys626Ter)
c.1873A>T (p.Lys625Ter)
c.1735A>T (p.Lys579Ter)
c.1588A>T (p.Lys530Ter)
c.1450A>T (p.Lys484Ter)
c.1429A>T (p.Lys477Ter)
c.1585A>T (p.Lys529Ter)
c.1672A>T (p.Lys558Ter)
4g.80202496A>CCA357397837PRDM8c.1034A>C (p.Lys345Thr)
c.1037A>C (p.Lys346Thr)
c.1877A>C (p.Lys626Thr)
c.1874A>C (p.Lys625Thr)
c.1736A>C (p.Lys579Thr)
c.1589A>C (p.Lys530Thr)
c.1451A>C (p.Lys484Thr)
c.1430A>C (p.Lys477Thr)
c.1586A>C (p.Lys529Thr)
c.1673A>C (p.Lys558Thr)
4g.80202496A>GCA357397838PRDM8c.1034A>G (p.Lys345Arg)
c.1037A>G (p.Lys346Arg)
c.1877A>G (p.Lys626Arg)
c.1874A>G (p.Lys625Arg)
c.1736A>G (p.Lys579Arg)
c.1589A>G (p.Lys530Arg)
c.1451A>G (p.Lys484Arg)
c.1430A>G (p.Lys477Arg)
c.1586A>G (p.Lys529Arg)
c.1673A>G (p.Lys558Arg)
gnomAD v4
4g.80202496A>TCA357397839PRDM8c.1034A>T (p.Lys345Met)
c.1037A>T (p.Lys346Met)
c.1877A>T (p.Lys626Met)
c.1874A>T (p.Lys625Met)
c.1736A>T (p.Lys579Met)
c.1589A>T (p.Lys530Met)
c.1451A>T (p.Lys484Met)
c.1430A>T (p.Lys477Met)
c.1586A>T (p.Lys529Met)
c.1673A>T (p.Lys558Met)

Number of alleles fetched