Chr Mutation (hg38) CAid Gene Transcript Linkouts
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.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)
4g.80202497G>ACA440227052PRDM8c.1035G>A (p.Lys345=)
c.1038G>A (p.Lys346=)
c.1878G>A (p.Lys626=)
c.1875G>A (p.Lys625=)
c.1737G>A (p.Lys579=)
c.1590G>A (p.Lys530=)
c.1452G>A (p.Lys484=)
c.1431G>A (p.Lys477=)
c.1587G>A (p.Lys529=)
c.1674G>A (p.Lys558=)
ClinVar dbSNP gnomAD v2 gnomAD v4
4g.80202497G>CCA357397841PRDM8c.1035G>C (p.Lys345Asn)
c.1038G>C (p.Lys346Asn)
c.1878G>C (p.Lys626Asn)
c.1875G>C (p.Lys625Asn)
c.1737G>C (p.Lys579Asn)
c.1590G>C (p.Lys530Asn)
c.1452G>C (p.Lys484Asn)
c.1431G>C (p.Lys477Asn)
c.1587G>C (p.Lys529Asn)
c.1674G>C (p.Lys558Asn)
4g.80202497G=CA1471293277PRDM8c.1035G= (p.Lys345=)
c.1038G= (p.Lys346=)
c.1878G= (p.Lys626=)
c.1875G= (p.Lys625=)
c.1737G= (p.Lys579=)
c.1590G= (p.Lys530=)
c.1452G= (p.Lys484=)
c.1431G= (p.Lys477=)
c.1587G= (p.Lys529=)
c.1674G= (p.Lys558=)
4g.80202497G>TCA357397842PRDM8c.1035G>T (p.Lys345Asn)
c.1038G>T (p.Lys346Asn)
c.1878G>T (p.Lys626Asn)
c.1875G>T (p.Lys625Asn)
c.1737G>T (p.Lys579Asn)
c.1590G>T (p.Lys530Asn)
c.1452G>T (p.Lys484Asn)
c.1431G>T (p.Lys477Asn)
c.1587G>T (p.Lys529Asn)
c.1674G>T (p.Lys558Asn)
gnomAD v4
4g.80202498G>ACA357397844PRDM8c.1036G>A (p.Glu346Lys)
c.1039G>A (p.Glu347Lys)
c.1879G>A (p.Glu627Lys)
c.1876G>A (p.Glu626Lys)
c.1738G>A (p.Glu580Lys)
c.1591G>A (p.Glu531Lys)
c.1453G>A (p.Glu485Lys)
c.1432G>A (p.Glu478Lys)
c.1588G>A (p.Glu530Lys)
c.1675G>A (p.Glu559Lys)
dbSNP gnomAD v4
4g.80202498G>CCA357397846PRDM8c.1036G>C (p.Glu346Gln)
c.1039G>C (p.Glu347Gln)
c.1879G>C (p.Glu627Gln)
c.1876G>C (p.Glu626Gln)
c.1738G>C (p.Glu580Gln)
c.1591G>C (p.Glu531Gln)
c.1453G>C (p.Glu485Gln)
c.1432G>C (p.Glu478Gln)
c.1588G>C (p.Glu530Gln)
c.1675G>C (p.Glu559Gln)
4g.80202498G=CA1471293284PRDM8c.1036G= (p.Glu346=)
c.1039G= (p.Glu347=)
c.1879G= (p.Glu627=)
c.1876G= (p.Glu626=)
c.1738G= (p.Glu580=)
c.1591G= (p.Glu531=)
c.1453G= (p.Glu485=)
c.1432G= (p.Glu478=)
c.1588G= (p.Glu530=)
c.1675G= (p.Glu559=)
4g.80202498G>TCA357397843PRDM8c.1036G>T (p.Glu346Ter)
c.1039G>T (p.Glu347Ter)
c.1879G>T (p.Glu627Ter)
c.1876G>T (p.Glu626Ter)
c.1738G>T (p.Glu580Ter)
c.1591G>T (p.Glu531Ter)
c.1453G>T (p.Glu485Ter)
c.1432G>T (p.Glu478Ter)
c.1588G>T (p.Glu530Ter)
c.1675G>T (p.Glu559Ter)
gnomAD v4
4g.80202499A>CCA357397849PRDM8c.1037A>C (p.Glu346Ala)
c.1040A>C (p.Glu347Ala)
c.1880A>C (p.Glu627Ala)
c.1877A>C (p.Glu626Ala)
c.1739A>C (p.Glu580Ala)
c.1592A>C (p.Glu531Ala)
c.1454A>C (p.Glu485Ala)
c.1433A>C (p.Glu478Ala)
c.1589A>C (p.Glu530Ala)
c.1676A>C (p.Glu559Ala)
4g.80202499A>GCA357397852PRDM8c.1037A>G (p.Glu346Gly)
c.1040A>G (p.Glu347Gly)
c.1880A>G (p.Glu627Gly)
c.1877A>G (p.Glu626Gly)
c.1739A>G (p.Glu580Gly)
c.1592A>G (p.Glu531Gly)
c.1454A>G (p.Glu485Gly)
c.1433A>G (p.Glu478Gly)
c.1589A>G (p.Glu530Gly)
c.1676A>G (p.Glu559Gly)
gnomAD v4
4g.80202499A>TCA357397863PRDM8c.1037A>T (p.Glu346Val)
c.1040A>T (p.Glu347Val)
c.1880A>T (p.Glu627Val)
c.1877A>T (p.Glu626Val)
c.1739A>T (p.Glu580Val)
c.1592A>T (p.Glu531Val)
c.1454A>T (p.Glu485Val)
c.1433A>T (p.Glu478Val)
c.1589A>T (p.Glu530Val)
c.1676A>T (p.Glu559Val)
4g.80202500G>ACA2982371PRDM8c.1038G>A (p.Glu346=)
c.1041G>A (p.Glu347=)
c.1881G>A (p.Glu627=)
c.1878G>A (p.Glu626=)
c.1740G>A (p.Glu580=)
c.1593G>A (p.Glu531=)
c.1455G>A (p.Glu485=)
c.1434G>A (p.Glu478=)
c.1590G>A (p.Glu530=)
c.1677G>A (p.Glu559=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.80202500G>CCA357397869PRDM8c.1038G>C (p.Glu346Asp)
c.1041G>C (p.Glu347Asp)
c.1881G>C (p.Glu627Asp)
c.1878G>C (p.Glu626Asp)
c.1740G>C (p.Glu580Asp)
c.1593G>C (p.Glu531Asp)
c.1455G>C (p.Glu485Asp)
c.1434G>C (p.Glu478Asp)
c.1590G>C (p.Glu530Asp)
c.1677G>C (p.Glu559Asp)
gnomAD v4
4g.80202500G=CA1471293287PRDM8c.1038G= (p.Glu346=)
c.1041G= (p.Glu347=)
c.1881G= (p.Glu627=)
c.1878G= (p.Glu626=)
c.1740G= (p.Glu580=)
c.1593G= (p.Glu531=)
c.1455G= (p.Glu485=)
c.1434G= (p.Glu478=)
c.1590G= (p.Glu530=)
c.1677G= (p.Glu559=)
4g.80202500G>TCA357397873PRDM8c.1038G>T (p.Glu346Asp)
c.1041G>T (p.Glu347Asp)
c.1881G>T (p.Glu627Asp)
c.1878G>T (p.Glu626Asp)
c.1740G>T (p.Glu580Asp)
c.1593G>T (p.Glu531Asp)
c.1455G>T (p.Glu485Asp)
c.1434G>T (p.Glu478Asp)
c.1590G>T (p.Glu530Asp)
c.1677G>T (p.Glu559Asp)
gnomAD v4
4g.80202501G>ACA357397878PRDM8c.1039G>A (p.Asp347Asn)
c.1042G>A (p.Asp348Asn)
c.1882G>A (p.Asp628Asn)
c.1879G>A (p.Asp627Asn)
c.1741G>A (p.Asp581Asn)
c.1594G>A (p.Asp532Asn)
c.1456G>A (p.Asp486Asn)
c.1435G>A (p.Asp479Asn)
c.1591G>A (p.Asp531Asn)
c.1678G>A (p.Asp560Asn)
4g.80202501G>CCA357397880PRDM8c.1039G>C (p.Asp347His)
c.1042G>C (p.Asp348His)
c.1882G>C (p.Asp628His)
c.1879G>C (p.Asp627His)
c.1741G>C (p.Asp581His)
c.1594G>C (p.Asp532His)
c.1456G>C (p.Asp486His)
c.1435G>C (p.Asp479His)
c.1591G>C (p.Asp531His)
c.1678G>C (p.Asp560His)
4g.80202501G>TCA357397879PRDM8c.1039G>T (p.Asp347Tyr)
c.1042G>T (p.Asp348Tyr)
c.1882G>T (p.Asp628Tyr)
c.1879G>T (p.Asp627Tyr)
c.1741G>T (p.Asp581Tyr)
c.1594G>T (p.Asp532Tyr)
c.1456G>T (p.Asp486Tyr)
c.1435G>T (p.Asp479Tyr)
c.1591G>T (p.Asp531Tyr)
c.1678G>T (p.Asp560Tyr)
gnomAD v4
4g.80202502A>CCA357397881PRDM8c.1040A>C (p.Asp347Ala)
c.1043A>C (p.Asp348Ala)
c.1883A>C (p.Asp628Ala)
c.1880A>C (p.Asp627Ala)
c.1742A>C (p.Asp581Ala)
c.1595A>C (p.Asp532Ala)
c.1457A>C (p.Asp486Ala)
c.1436A>C (p.Asp479Ala)
c.1592A>C (p.Asp531Ala)
c.1679A>C (p.Asp560Ala)
4g.80202502A>GCA357397882PRDM8c.1040A>G (p.Asp347Gly)
c.1043A>G (p.Asp348Gly)
c.1883A>G (p.Asp628Gly)
c.1880A>G (p.Asp627Gly)
c.1742A>G (p.Asp581Gly)
c.1595A>G (p.Asp532Gly)
c.1457A>G (p.Asp486Gly)
c.1436A>G (p.Asp479Gly)
c.1592A>G (p.Asp531Gly)
c.1679A>G (p.Asp560Gly)
gnomAD v4
4g.80202502A>TCA357397885PRDM8c.1040A>T (p.Asp347Val)
c.1043A>T (p.Asp348Val)
c.1883A>T (p.Asp628Val)
c.1880A>T (p.Asp627Val)
c.1742A>T (p.Asp581Val)
c.1595A>T (p.Asp532Val)
c.1457A>T (p.Asp486Val)
c.1436A>T (p.Asp479Val)
c.1592A>T (p.Asp531Val)
c.1679A>T (p.Asp560Val)
4g.80202503T>ACA357397889PRDM8c.1041T>A (p.Asp347Glu)
c.1044T>A (p.Asp348Glu)
c.1884T>A (p.Asp628Glu)
c.1881T>A (p.Asp627Glu)
c.1743T>A (p.Asp581Glu)
c.1596T>A (p.Asp532Glu)
c.1458T>A (p.Asp486Glu)
c.1437T>A (p.Asp479Glu)
c.1593T>A (p.Asp531Glu)
c.1680T>A (p.Asp560Glu)
gnomAD v4
4g.80202503T>CCA440227076PRDM8c.1041T>C (p.Asp347=)
c.1044T>C (p.Asp348=)
c.1884T>C (p.Asp628=)
c.1881T>C (p.Asp627=)
c.1743T>C (p.Asp581=)
c.1596T>C (p.Asp532=)
c.1458T>C (p.Asp486=)
c.1437T>C (p.Asp479=)
c.1593T>C (p.Asp531=)
c.1680T>C (p.Asp560=)
gnomAD v4
4g.80202503T>GCA357397890PRDM8c.1041T>G (p.Asp347Glu)
c.1044T>G (p.Asp348Glu)
c.1884T>G (p.Asp628Glu)
c.1881T>G (p.Asp627Glu)
c.1743T>G (p.Asp581Glu)
c.1596T>G (p.Asp532Glu)
c.1458T>G (p.Asp486Glu)
c.1437T>G (p.Asp479Glu)
c.1593T>G (p.Asp531Glu)
c.1680T>G (p.Asp560Glu)
4g.80202504C>ACA357397892PRDM8c.1042C>A (p.Leu348Met)
c.1045C>A (p.Leu349Met)
c.1885C>A (p.Leu629Met)
c.1882C>A (p.Leu628Met)
c.1744C>A (p.Leu582Met)
c.1597C>A (p.Leu533Met)
c.1459C>A (p.Leu487Met)
c.1438C>A (p.Leu480Met)
c.1594C>A (p.Leu532Met)
c.1681C>A (p.Leu561Met)
ClinVar gnomAD v4
4g.80202504C>GCA357397891PRDM8c.1042C>G (p.Leu348Val)
c.1045C>G (p.Leu349Val)
c.1885C>G (p.Leu629Val)
c.1882C>G (p.Leu628Val)
c.1744C>G (p.Leu582Val)
c.1597C>G (p.Leu533Val)
c.1459C>G (p.Leu487Val)
c.1438C>G (p.Leu480Val)
c.1594C>G (p.Leu532Val)
c.1681C>G (p.Leu561Val)
4g.80202504C>TCA440227078PRDM8c.1042C>T (p.Leu348=)
c.1045C>T (p.Leu349=)
c.1885C>T (p.Leu629=)
c.1882C>T (p.Leu628=)
c.1744C>T (p.Leu582=)
c.1597C>T (p.Leu533=)
c.1459C>T (p.Leu487=)
c.1438C>T (p.Leu480=)
c.1594C>T (p.Leu532=)
c.1681C>T (p.Leu561=)
4g.80202505T>ACA357397893PRDM8c.1043T>A (p.Leu348Gln)
c.1046T>A (p.Leu349Gln)
c.1886T>A (p.Leu629Gln)
c.1883T>A (p.Leu628Gln)
c.1745T>A (p.Leu582Gln)
c.1598T>A (p.Leu533Gln)
c.1460T>A (p.Leu487Gln)
c.1439T>A (p.Leu480Gln)
c.1595T>A (p.Leu532Gln)
c.1682T>A (p.Leu561Gln)
4g.80202505T>CCA357397894PRDM8c.1043T>C (p.Leu348Pro)
c.1046T>C (p.Leu349Pro)
c.1886T>C (p.Leu629Pro)
c.1883T>C (p.Leu628Pro)
c.1745T>C (p.Leu582Pro)
c.1598T>C (p.Leu533Pro)
c.1460T>C (p.Leu487Pro)
c.1439T>C (p.Leu480Pro)
c.1595T>C (p.Leu532Pro)
c.1682T>C (p.Leu561Pro)
4g.80202505T>GCA357397896PRDM8c.1043T>G (p.Leu348Arg)
c.1046T>G (p.Leu349Arg)
c.1886T>G (p.Leu629Arg)
c.1883T>G (p.Leu628Arg)
c.1745T>G (p.Leu582Arg)
c.1598T>G (p.Leu533Arg)
c.1460T>G (p.Leu487Arg)
c.1439T>G (p.Leu480Arg)
c.1595T>G (p.Leu532Arg)
c.1682T>G (p.Leu561Arg)
4g.80202506G>ACA440227086PRDM8c.1044G>A (p.Leu348=)
c.1047G>A (p.Leu349=)
c.1887G>A (p.Leu629=)
c.1884G>A (p.Leu628=)
c.1746G>A (p.Leu582=)
c.1599G>A (p.Leu533=)
c.1461G>A (p.Leu487=)
c.1440G>A (p.Leu480=)
c.1596G>A (p.Leu532=)
c.1683G>A (p.Leu561=)
dbSNP gnomAD v4
4g.80202506G>CCA440227087PRDM8c.1044G>C (p.Leu348=)
c.1047G>C (p.Leu349=)
c.1887G>C (p.Leu629=)
c.1884G>C (p.Leu628=)
c.1746G>C (p.Leu582=)
c.1599G>C (p.Leu533=)
c.1461G>C (p.Leu487=)
c.1440G>C (p.Leu480=)
c.1596G>C (p.Leu532=)
c.1683G>C (p.Leu561=)
4g.80202506G=CA1471293291PRDM8c.1044G= (p.Leu348=)
c.1047G= (p.Leu349=)
c.1887G= (p.Leu629=)
c.1884G= (p.Leu628=)
c.1746G= (p.Leu582=)
c.1599G= (p.Leu533=)
c.1461G= (p.Leu487=)
c.1440G= (p.Leu480=)
c.1596G= (p.Leu532=)
c.1683G= (p.Leu561=)
4g.80202506G>TCA440227088PRDM8c.1044G>T (p.Leu348=)
c.1047G>T (p.Leu349=)
c.1887G>T (p.Leu629=)
c.1884G>T (p.Leu628=)
c.1746G>T (p.Leu582=)
c.1599G>T (p.Leu533=)
c.1461G>T (p.Leu487=)
c.1440G>T (p.Leu480=)
c.1596G>T (p.Leu532=)
c.1683G>T (p.Leu561=)
gnomAD v4
4g.80202507G>ACA357397898PRDM8c.1045G>A (p.Val349Met)
c.1048G>A (p.Val350Met)
c.1888G>A (p.Val630Met)
c.1885G>A (p.Val629Met)
c.1747G>A (p.Val583Met)
c.1600G>A (p.Val534Met)
c.1462G>A (p.Val488Met)
c.1441G>A (p.Val481Met)
c.1597G>A (p.Val533Met)
c.1684G>A (p.Val562Met)
gnomAD v4
4g.80202507G>CCA357397900PRDM8c.1045G>C (p.Val349Leu)
c.1048G>C (p.Val350Leu)
c.1888G>C (p.Val630Leu)
c.1885G>C (p.Val629Leu)
c.1747G>C (p.Val583Leu)
c.1600G>C (p.Val534Leu)
c.1462G>C (p.Val488Leu)
c.1441G>C (p.Val481Leu)
c.1597G>C (p.Val533Leu)
c.1684G>C (p.Val562Leu)
4g.80202507G>TCA357397903PRDM8c.1045G>T (p.Val349Leu)
c.1048G>T (p.Val350Leu)
c.1888G>T (p.Val630Leu)
c.1885G>T (p.Val629Leu)
c.1747G>T (p.Val583Leu)
c.1600G>T (p.Val534Leu)
c.1462G>T (p.Val488Leu)
c.1441G>T (p.Val481Leu)
c.1597G>T (p.Val533Leu)
c.1684G>T (p.Val562Leu)
gnomAD v4
4g.80202508T>ACA357397913PRDM8c.1046T>A (p.Val349Glu)
c.1049T>A (p.Val350Glu)
c.1889T>A (p.Val630Glu)
c.1886T>A (p.Val629Glu)
c.1748T>A (p.Val583Glu)
c.1601T>A (p.Val534Glu)
c.1463T>A (p.Val488Glu)
c.1442T>A (p.Val481Glu)
c.1598T>A (p.Val533Glu)
c.1685T>A (p.Val562Glu)
4g.80202508T>CCA357397908PRDM8c.1046T>C (p.Val349Ala)
c.1049T>C (p.Val350Ala)
c.1889T>C (p.Val630Ala)
c.1886T>C (p.Val629Ala)
c.1748T>C (p.Val583Ala)
c.1601T>C (p.Val534Ala)
c.1463T>C (p.Val488Ala)
c.1442T>C (p.Val481Ala)
c.1598T>C (p.Val533Ala)
c.1685T>C (p.Val562Ala)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.80202508T>GCA357397906PRDM8c.1046T>G (p.Val349Gly)
c.1049T>G (p.Val350Gly)
c.1889T>G (p.Val630Gly)
c.1886T>G (p.Val629Gly)
c.1748T>G (p.Val583Gly)
c.1601T>G (p.Val534Gly)
c.1463T>G (p.Val488Gly)
c.1442T>G (p.Val481Gly)
c.1598T>G (p.Val533Gly)
c.1685T>G (p.Val562Gly)
dbSNP gnomAD v2 gnomAD v4
4g.80202508T=CA1471293296PRDM8c.1046T= (p.Val349=)
c.1049T= (p.Val350=)
c.1889T= (p.Val630=)
c.1886T= (p.Val629=)
c.1748T= (p.Val583=)
c.1601T= (p.Val534=)
c.1463T= (p.Val488=)
c.1442T= (p.Val481=)
c.1598T= (p.Val533=)
c.1685T= (p.Val562=)
4g.80202509G>ACA440227102PRDM8c.1047G>A (p.Val349=)
c.1050G>A (p.Val350=)
c.1890G>A (p.Val630=)
c.1887G>A (p.Val629=)
c.1749G>A (p.Val583=)
c.1602G>A (p.Val534=)
c.1464G>A (p.Val488=)
c.1443G>A (p.Val481=)
c.1599G>A (p.Val533=)
c.1686G>A (p.Val562=)
gnomAD v4
4g.80202509G>CCA440227097PRDM8c.1047G>C (p.Val349=)
c.1050G>C (p.Val350=)
c.1890G>C (p.Val630=)
c.1887G>C (p.Val629=)
c.1749G>C (p.Val583=)
c.1602G>C (p.Val534=)
c.1464G>C (p.Val488=)
c.1443G>C (p.Val481=)
c.1599G>C (p.Val533=)
c.1686G>C (p.Val562=)
4g.80202509G>TCA440227098PRDM8c.1047G>T (p.Val349=)
c.1050G>T (p.Val350=)
c.1890G>T (p.Val630=)
c.1887G>T (p.Val629=)
c.1749G>T (p.Val583=)
c.1602G>T (p.Val534=)
c.1464G>T (p.Val488=)
c.1443G>T (p.Val481=)
c.1599G>T (p.Val533=)
c.1686G>T (p.Val562=)
gnomAD v4
4g.80202510T>ACA357397916PRDM8c.1048T>A (p.Cys350Ser)
c.1051T>A (p.Cys351Ser)
c.1891T>A (p.Cys631Ser)
c.1888T>A (p.Cys630Ser)
c.1750T>A (p.Cys584Ser)
c.1603T>A (p.Cys535Ser)
c.1465T>A (p.Cys489Ser)
c.1444T>A (p.Cys482Ser)
c.1600T>A (p.Cys534Ser)
c.1687T>A (p.Cys563Ser)
4g.80202510T>CCA357397918PRDM8c.1048T>C (p.Cys350Arg)
c.1051T>C (p.Cys351Arg)
c.1891T>C (p.Cys631Arg)
c.1888T>C (p.Cys630Arg)
c.1750T>C (p.Cys584Arg)
c.1603T>C (p.Cys535Arg)
c.1465T>C (p.Cys489Arg)
c.1444T>C (p.Cys482Arg)
c.1600T>C (p.Cys534Arg)
c.1687T>C (p.Cys563Arg)
4g.80202510T>GCA357397921PRDM8c.1048T>G (p.Cys350Gly)
c.1051T>G (p.Cys351Gly)
c.1891T>G (p.Cys631Gly)
c.1888T>G (p.Cys630Gly)
c.1750T>G (p.Cys584Gly)
c.1603T>G (p.Cys535Gly)
c.1465T>G (p.Cys489Gly)
c.1444T>G (p.Cys482Gly)
c.1600T>G (p.Cys534Gly)
c.1687T>G (p.Cys563Gly)
4g.80202511G>ACA357397922PRDM8c.1049G>A (p.Cys350Tyr)
c.1052G>A (p.Cys351Tyr)
c.1892G>A (p.Cys631Tyr)
c.1889G>A (p.Cys630Tyr)
c.1751G>A (p.Cys584Tyr)
c.1604G>A (p.Cys535Tyr)
c.1466G>A (p.Cys489Tyr)
c.1445G>A (p.Cys482Tyr)
c.1601G>A (p.Cys534Tyr)
c.1688G>A (p.Cys563Tyr)
gnomAD v4
4g.80202511G>CCA357397923PRDM8c.1049G>C (p.Cys350Ser)
c.1052G>C (p.Cys351Ser)
c.1892G>C (p.Cys631Ser)
c.1889G>C (p.Cys630Ser)
c.1751G>C (p.Cys584Ser)
c.1604G>C (p.Cys535Ser)
c.1466G>C (p.Cys489Ser)
c.1445G>C (p.Cys482Ser)
c.1601G>C (p.Cys534Ser)
c.1688G>C (p.Cys563Ser)
4g.80202511G>TCA357397926PRDM8c.1049G>T (p.Cys350Phe)
c.1052G>T (p.Cys351Phe)
c.1892G>T (p.Cys631Phe)
c.1889G>T (p.Cys630Phe)
c.1751G>T (p.Cys584Phe)
c.1604G>T (p.Cys535Phe)
c.1466G>T (p.Cys489Phe)
c.1445G>T (p.Cys482Phe)
c.1601G>T (p.Cys534Phe)
c.1688G>T (p.Cys563Phe)
gnomAD v4
4g.80202512C>ACA357397931PRDM8c.1050C>A (p.Cys350Ter)
c.1053C>A (p.Cys351Ter)
c.1893C>A (p.Cys631Ter)
c.1890C>A (p.Cys630Ter)
c.1752C>A (p.Cys584Ter)
c.1605C>A (p.Cys535Ter)
c.1467C>A (p.Cys489Ter)
c.1446C>A (p.Cys482Ter)
c.1602C>A (p.Cys534Ter)
c.1689C>A (p.Cys563Ter)
4g.80202512C=CA1471293299PRDM8c.1050C= (p.Cys350=)
c.1053C= (p.Cys351=)
c.1893C= (p.Cys631=)
c.1890C= (p.Cys630=)
c.1752C= (p.Cys584=)
c.1605C= (p.Cys535=)
c.1467C= (p.Cys489=)
c.1446C= (p.Cys482=)
c.1602C= (p.Cys534=)
c.1689C= (p.Cys563=)
4g.80202512C>GCA357397934PRDM8c.1050C>G (p.Cys350Trp)
c.1053C>G (p.Cys351Trp)
c.1893C>G (p.Cys631Trp)
c.1890C>G (p.Cys630Trp)
c.1752C>G (p.Cys584Trp)
c.1605C>G (p.Cys535Trp)
c.1467C>G (p.Cys489Trp)
c.1446C>G (p.Cys482Trp)
c.1602C>G (p.Cys534Trp)
c.1689C>G (p.Cys563Trp)
4g.80202512C>TCA2982372PRDM8c.1050C>T (p.Cys350=)
c.1053C>T (p.Cys351=)
c.1893C>T (p.Cys631=)
c.1890C>T (p.Cys630=)
c.1752C>T (p.Cys584=)
c.1605C>T (p.Cys535=)
c.1467C>T (p.Cys489=)
c.1446C>T (p.Cys482=)
c.1602C>T (p.Cys534=)
c.1689C>T (p.Cys563=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.80202513A>CCA357397942PRDM8c.1051A>C (p.Thr351Pro)
c.1054A>C (p.Thr352Pro)
c.1894A>C (p.Thr632Pro)
c.1891A>C (p.Thr631Pro)
c.1753A>C (p.Thr585Pro)
c.1606A>C (p.Thr536Pro)
c.1468A>C (p.Thr490Pro)
c.1447A>C (p.Thr483Pro)
c.1603A>C (p.Thr535Pro)
c.1690A>C (p.Thr564Pro)
4g.80202513A>GCA357397943PRDM8c.1051A>G (p.Thr351Ala)
c.1054A>G (p.Thr352Ala)
c.1894A>G (p.Thr632Ala)
c.1891A>G (p.Thr631Ala)
c.1753A>G (p.Thr585Ala)
c.1606A>G (p.Thr536Ala)
c.1468A>G (p.Thr490Ala)
c.1447A>G (p.Thr483Ala)
c.1603A>G (p.Thr535Ala)
c.1690A>G (p.Thr564Ala)
4g.80202513A>TCA357397945PRDM8c.1051A>T (p.Thr351Ser)
c.1054A>T (p.Thr352Ser)
c.1894A>T (p.Thr632Ser)
c.1891A>T (p.Thr631Ser)
c.1753A>T (p.Thr585Ser)
c.1606A>T (p.Thr536Ser)
c.1468A>T (p.Thr490Ser)
c.1447A>T (p.Thr483Ser)
c.1603A>T (p.Thr535Ser)
c.1690A>T (p.Thr564Ser)
4g.80202514C>ACA357397948PRDM8c.1052C>A (p.Thr351Lys)
c.1055C>A (p.Thr352Lys)
c.1895C>A (p.Thr632Lys)
c.1892C>A (p.Thr631Lys)
c.1754C>A (p.Thr585Lys)
c.1607C>A (p.Thr536Lys)
c.1469C>A (p.Thr490Lys)
c.1448C>A (p.Thr483Lys)
c.1604C>A (p.Thr535Lys)
c.1691C>A (p.Thr564Lys)
4g.80202514C=CA1471293301PRDM8c.1052C= (p.Thr351=)
c.1055C= (p.Thr352=)
c.1895C= (p.Thr632=)
c.1892C= (p.Thr631=)
c.1754C= (p.Thr585=)
c.1607C= (p.Thr536=)
c.1469C= (p.Thr490=)
c.1448C= (p.Thr483=)
c.1604C= (p.Thr535=)
c.1691C= (p.Thr564=)
4g.80202514C>GCA357397950PRDM8c.1052C>G (p.Thr351Arg)
c.1055C>G (p.Thr352Arg)
c.1895C>G (p.Thr632Arg)
c.1892C>G (p.Thr631Arg)
c.1754C>G (p.Thr585Arg)
c.1607C>G (p.Thr536Arg)
c.1469C>G (p.Thr490Arg)
c.1448C>G (p.Thr483Arg)
c.1604C>G (p.Thr535Arg)
c.1691C>G (p.Thr564Arg)
4g.80202514C>TCA357397954PRDM8c.1052C>T (p.Thr351Ile)
c.1055C>T (p.Thr352Ile)
c.1895C>T (p.Thr632Ile)
c.1892C>T (p.Thr631Ile)
c.1754C>T (p.Thr585Ile)
c.1607C>T (p.Thr536Ile)
c.1469C>T (p.Thr490Ile)
c.1448C>T (p.Thr483Ile)
c.1604C>T (p.Thr535Ile)
c.1691C>T (p.Thr564Ile)
dbSNP gnomAD v2 gnomAD v4
4g.80202515A=CA1471293306PRDM8c.1053A= (p.Thr351=)
c.1056A= (p.Thr352=)
c.1896A= (p.Thr632=)
c.1893A= (p.Thr631=)
c.1755A= (p.Thr585=)
c.1608A= (p.Thr536=)
c.1470A= (p.Thr490=)
c.1449A= (p.Thr483=)
c.1605A= (p.Thr535=)
c.1692A= (p.Thr564=)
4g.80202515A>CCA440227125PRDM8c.1053A>C (p.Thr351=)
c.1056A>C (p.Thr352=)
c.1896A>C (p.Thr632=)
c.1893A>C (p.Thr631=)
c.1755A>C (p.Thr585=)
c.1608A>C (p.Thr536=)
c.1470A>C (p.Thr490=)
c.1449A>C (p.Thr483=)
c.1605A>C (p.Thr535=)
c.1692A>C (p.Thr564=)
4g.80202515A>GCA440227118PRDM8c.1053A>G (p.Thr351=)
c.1056A>G (p.Thr352=)
c.1896A>G (p.Thr632=)
c.1893A>G (p.Thr631=)
c.1755A>G (p.Thr585=)
c.1608A>G (p.Thr536=)
c.1470A>G (p.Thr490=)
c.1449A>G (p.Thr483=)
c.1605A>G (p.Thr535=)
c.1692A>G (p.Thr564=)
dbSNP gnomAD v2 gnomAD v4
4g.80202515A>TCA440227123PRDM8c.1053A>T (p.Thr351=)
c.1056A>T (p.Thr352=)
c.1896A>T (p.Thr632=)
c.1893A>T (p.Thr631=)
c.1755A>T (p.Thr585=)
c.1608A>T (p.Thr536=)
c.1470A>T (p.Thr490=)
c.1449A>T (p.Thr483=)
c.1605A>T (p.Thr535=)
c.1692A>T (p.Thr564=)
4g.80202516C>ACA357397958PRDM8c.1054C>A (p.Pro352Thr)
c.1057C>A (p.Pro353Thr)
c.1897C>A (p.Pro633Thr)
c.1894C>A (p.Pro632Thr)
c.1756C>A (p.Pro586Thr)
c.1609C>A (p.Pro537Thr)
c.1471C>A (p.Pro491Thr)
c.1450C>A (p.Pro484Thr)
c.1606C>A (p.Pro536Thr)
c.1693C>A (p.Pro565Thr)
4g.80202516C>GCA357397965PRDM8c.1054C>G (p.Pro352Ala)
c.1057C>G (p.Pro353Ala)
c.1897C>G (p.Pro633Ala)
c.1894C>G (p.Pro632Ala)
c.1756C>G (p.Pro586Ala)
c.1609C>G (p.Pro537Ala)
c.1471C>G (p.Pro491Ala)
c.1450C>G (p.Pro484Ala)
c.1606C>G (p.Pro536Ala)
c.1693C>G (p.Pro565Ala)
4g.80202516C>TCA357397967PRDM8c.1054C>T (p.Pro352Ser)
c.1057C>T (p.Pro353Ser)
c.1897C>T (p.Pro633Ser)
c.1894C>T (p.Pro632Ser)
c.1756C>T (p.Pro586Ser)
c.1609C>T (p.Pro537Ser)
c.1471C>T (p.Pro491Ser)
c.1450C>T (p.Pro484Ser)
c.1606C>T (p.Pro536Ser)
c.1693C>T (p.Pro565Ser)
4g.80202517C>ACA357397970PRDM8c.1055C>A (p.Pro352Gln)
c.1058C>A (p.Pro353Gln)
c.1898C>A (p.Pro633Gln)
c.1895C>A (p.Pro632Gln)
c.1757C>A (p.Pro586Gln)
c.1610C>A (p.Pro537Gln)
c.1472C>A (p.Pro491Gln)
c.1451C>A (p.Pro484Gln)
c.1607C>A (p.Pro536Gln)
c.1694C>A (p.Pro565Gln)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.80202517C=CA1471293309PRDM8c.1055C= (p.Pro352=)
c.1058C= (p.Pro353=)
c.1898C= (p.Pro633=)
c.1895C= (p.Pro632=)
c.1757C= (p.Pro586=)
c.1610C= (p.Pro537=)
c.1472C= (p.Pro491=)
c.1451C= (p.Pro484=)
c.1607C= (p.Pro536=)
c.1694C= (p.Pro565=)
4g.80202517C>GCA357397972PRDM8c.1055C>G (p.Pro352Arg)
c.1058C>G (p.Pro353Arg)
c.1898C>G (p.Pro633Arg)
c.1895C>G (p.Pro632Arg)
c.1757C>G (p.Pro586Arg)
c.1610C>G (p.Pro537Arg)
c.1472C>G (p.Pro491Arg)
c.1451C>G (p.Pro484Arg)
c.1607C>G (p.Pro536Arg)
c.1694C>G (p.Pro565Arg)
gnomAD v4
4g.80202517C>TCA357397975PRDM8c.1055C>T (p.Pro352Leu)
c.1058C>T (p.Pro353Leu)
c.1898C>T (p.Pro633Leu)
c.1895C>T (p.Pro632Leu)
c.1757C>T (p.Pro586Leu)
c.1610C>T (p.Pro537Leu)
c.1472C>T (p.Pro491Leu)
c.1451C>T (p.Pro484Leu)
c.1607C>T (p.Pro536Leu)
c.1694C>T (p.Pro565Leu)
4g.80202517_80202518insAGGTCCTCCTTGGAGGCCGGGAGGGCA2563058736PRDM8c.1055_1056insAGGTCCTCCTTGGAGGCCGGGAGGG (p.Gln353GlyfsTer?)
c.1058_1059insAGGTCCTCCTTGGAGGCCGGGAGGG (p.Gln354GlyfsTer?)
c.1898_1899insAGGTCCTCCTTGGAGGCCGGGAGGG (p.Gln634GlyfsTer?)
c.1895_1896insAGGTCCTCCTTGGAGGCCGGGAGGG (p.Gln633GlyfsTer?)
c.1757_1758insAGGTCCTCCTTGGAGGCCGGGAGGG (p.Gln587GlyfsTer?)
c.1610_1611insAGGTCCTCCTTGGAGGCCGGGAGGG (p.Gln538GlyfsTer?)
c.1472_1473insAGGTCCTCCTTGGAGGCCGGGAGGG (p.Gln492GlyfsTer?)
c.1451_1452insAGGTCCTCCTTGGAGGCCGGGAGGG (p.Gln485GlyfsTer?)
c.1607_1608insAGGTCCTCCTTGGAGGCCGGGAGGG (p.Gln537GlyfsTer?)
c.1694_1695insAGGTCCTCCTTGGAGGCCGGGAGGG (p.Gln566GlyfsTer?)
4g.80202518G>ACA440227139PRDM8c.1056G>A (p.Pro352=)
c.1059G>A (p.Pro353=)
c.1899G>A (p.Pro633=)
c.1896G>A (p.Pro632=)
c.1758G>A (p.Pro586=)
c.1611G>A (p.Pro537=)
c.1473G>A (p.Pro491=)
c.1452G>A (p.Pro484=)
c.1608G>A (p.Pro536=)
c.1695G>A (p.Pro565=)
gnomAD v4
4g.80202518G>CCA440227140PRDM8c.1056G>C (p.Pro352=)
c.1059G>C (p.Pro353=)
c.1899G>C (p.Pro633=)
c.1896G>C (p.Pro632=)
c.1758G>C (p.Pro586=)
c.1611G>C (p.Pro537=)
c.1473G>C (p.Pro491=)
c.1452G>C (p.Pro484=)
c.1608G>C (p.Pro536=)
c.1695G>C (p.Pro565=)
4g.80202518G>TCA440227141PRDM8c.1056G>T (p.Pro352=)
c.1059G>T (p.Pro353=)
c.1899G>T (p.Pro633=)
c.1896G>T (p.Pro632=)
c.1758G>T (p.Pro586=)
c.1611G>T (p.Pro537=)
c.1473G>T (p.Pro491=)
c.1452G>T (p.Pro484=)
c.1608G>T (p.Pro536=)
c.1695G>T (p.Pro565=)
gnomAD v4
4g.80202519C>ACA357397982PRDM8c.1057C>A (p.Gln353Lys)
c.1060C>A (p.Gln354Lys)
c.1900C>A (p.Gln634Lys)
c.1897C>A (p.Gln633Lys)
c.1759C>A (p.Gln587Lys)
c.1612C>A (p.Gln538Lys)
c.1474C>A (p.Gln492Lys)
c.1453C>A (p.Gln485Lys)
c.1609C>A (p.Gln537Lys)
c.1696C>A (p.Gln566Lys)
gnomAD v4
4g.80202519C>GCA357397990PRDM8c.1057C>G (p.Gln353Glu)
c.1060C>G (p.Gln354Glu)
c.1900C>G (p.Gln634Glu)
c.1897C>G (p.Gln633Glu)
c.1759C>G (p.Gln587Glu)
c.1612C>G (p.Gln538Glu)
c.1474C>G (p.Gln492Glu)
c.1453C>G (p.Gln485Glu)
c.1609C>G (p.Gln537Glu)
c.1696C>G (p.Gln566Glu)
4g.80202519C>TCA357397985PRDM8c.1057C>T (p.Gln353Ter)
c.1060C>T (p.Gln354Ter)
c.1900C>T (p.Gln634Ter)
c.1897C>T (p.Gln633Ter)
c.1759C>T (p.Gln587Ter)
c.1612C>T (p.Gln538Ter)
c.1474C>T (p.Gln492Ter)
c.1453C>T (p.Gln485Ter)
c.1609C>T (p.Gln537Ter)
c.1696C>T (p.Gln566Ter)
4g.80202520A>CCA357397992PRDM8c.1058A>C (p.Gln353Pro)
c.1061A>C (p.Gln354Pro)
c.1901A>C (p.Gln634Pro)
c.1898A>C (p.Gln633Pro)
c.1760A>C (p.Gln587Pro)
c.1613A>C (p.Gln538Pro)
c.1475A>C (p.Gln492Pro)
c.1454A>C (p.Gln485Pro)
c.1610A>C (p.Gln537Pro)
c.1697A>C (p.Gln566Pro)
4g.80202520A>GCA357397995PRDM8c.1058A>G (p.Gln353Arg)
c.1061A>G (p.Gln354Arg)
c.1901A>G (p.Gln634Arg)
c.1898A>G (p.Gln633Arg)
c.1760A>G (p.Gln587Arg)
c.1613A>G (p.Gln538Arg)
c.1475A>G (p.Gln492Arg)
c.1454A>G (p.Gln485Arg)
c.1610A>G (p.Gln537Arg)
c.1697A>G (p.Gln566Arg)
gnomAD v4
4g.80202520A>TCA357397998PRDM8c.1058A>T (p.Gln353Leu)
c.1061A>T (p.Gln354Leu)
c.1901A>T (p.Gln634Leu)
c.1898A>T (p.Gln633Leu)
c.1760A>T (p.Gln587Leu)
c.1613A>T (p.Gln538Leu)
c.1475A>T (p.Gln492Leu)
c.1454A>T (p.Gln485Leu)
c.1610A>T (p.Gln537Leu)
c.1697A>T (p.Gln566Leu)
4g.80202521G>ACA440227151PRDM8c.1059G>A (p.Gln353=)
c.1062G>A (p.Gln354=)
c.1902G>A (p.Gln634=)
c.1899G>A (p.Gln633=)
c.1761G>A (p.Gln587=)
c.1614G>A (p.Gln538=)
c.1476G>A (p.Gln492=)
c.1455G>A (p.Gln485=)
c.1611G>A (p.Gln537=)
c.1698G>A (p.Gln566=)
gnomAD v4
4g.80202521G>CCA357398003PRDM8c.1059G>C (p.Gln353His)
c.1062G>C (p.Gln354His)
c.1902G>C (p.Gln634His)
c.1899G>C (p.Gln633His)
c.1761G>C (p.Gln587His)
c.1614G>C (p.Gln538His)
c.1476G>C (p.Gln492His)
c.1455G>C (p.Gln485His)
c.1611G>C (p.Gln537His)
c.1698G>C (p.Gln566His)
gnomAD v4
4g.80202521G>TCA357398004PRDM8c.1059G>T (p.Gln353His)
c.1062G>T (p.Gln354His)
c.1902G>T (p.Gln634His)
c.1899G>T (p.Gln633His)
c.1761G>T (p.Gln587His)
c.1614G>T (p.Gln538His)
c.1476G>T (p.Gln492His)
c.1455G>T (p.Gln485His)
c.1611G>T (p.Gln537His)
c.1698G>T (p.Gln566His)
4g.80202522C>ACA357398008PRDM8c.1060C>A (p.Gln354Lys)
c.1063C>A (p.Gln355Lys)
c.1903C>A (p.Gln635Lys)
c.1900C>A (p.Gln634Lys)
c.1762C>A (p.Gln588Lys)
c.1615C>A (p.Gln539Lys)
c.1477C>A (p.Gln493Lys)
c.1456C>A (p.Gln486Lys)
c.1612C>A (p.Gln538Lys)
c.1699C>A (p.Gln567Lys)
gnomAD v4
4g.80202522C>GCA357398010PRDM8c.1060C>G (p.Gln354Glu)
c.1063C>G (p.Gln355Glu)
c.1903C>G (p.Gln635Glu)
c.1900C>G (p.Gln634Glu)
c.1762C>G (p.Gln588Glu)
c.1615C>G (p.Gln539Glu)
c.1477C>G (p.Gln493Glu)
c.1456C>G (p.Gln486Glu)
c.1612C>G (p.Gln538Glu)
c.1699C>G (p.Gln567Glu)
4g.80202522C>TCA357398012PRDM8c.1060C>T (p.Gln354Ter)
c.1063C>T (p.Gln355Ter)
c.1903C>T (p.Gln635Ter)
c.1900C>T (p.Gln634Ter)
c.1762C>T (p.Gln588Ter)
c.1615C>T (p.Gln539Ter)
c.1477C>T (p.Gln493Ter)
c.1456C>T (p.Gln486Ter)
c.1612C>T (p.Gln538Ter)
c.1699C>T (p.Gln567Ter)
gnomAD v4
4g.80202523A=CA1471293317PRDM8c.1061A= (p.Gln354=)
c.1064A= (p.Gln355=)
c.1904A= (p.Gln635=)
c.1901A= (p.Gln634=)
c.1763A= (p.Gln588=)
c.1616A= (p.Gln539=)
c.1478A= (p.Gln493=)
c.1457A= (p.Gln486=)
c.1613A= (p.Gln538=)
c.1700A= (p.Gln567=)
4g.80202523A>CCA357398015PRDM8c.1061A>C (p.Gln354Pro)
c.1064A>C (p.Gln355Pro)
c.1904A>C (p.Gln635Pro)
c.1901A>C (p.Gln634Pro)
c.1763A>C (p.Gln588Pro)
c.1616A>C (p.Gln539Pro)
c.1478A>C (p.Gln493Pro)
c.1457A>C (p.Gln486Pro)
c.1613A>C (p.Gln538Pro)
c.1700A>C (p.Gln567Pro)
4g.80202523A>GCA357398016PRDM8c.1061A>G (p.Gln354Arg)
c.1064A>G (p.Gln355Arg)
c.1904A>G (p.Gln635Arg)
c.1901A>G (p.Gln634Arg)
c.1763A>G (p.Gln588Arg)
c.1616A>G (p.Gln539Arg)
c.1478A>G (p.Gln493Arg)
c.1457A>G (p.Gln486Arg)
c.1613A>G (p.Gln538Arg)
c.1700A>G (p.Gln567Arg)
dbSNP gnomAD v4
4g.80202523A>TCA357398017PRDM8c.1061A>T (p.Gln354Leu)
c.1064A>T (p.Gln355Leu)
c.1904A>T (p.Gln635Leu)
c.1901A>T (p.Gln634Leu)
c.1763A>T (p.Gln588Leu)
c.1616A>T (p.Gln539Leu)
c.1478A>T (p.Gln493Leu)
c.1457A>T (p.Gln486Leu)
c.1613A>T (p.Gln538Leu)
c.1700A>T (p.Gln567Leu)
4g.80202524G>ACA440227170PRDM8c.1062G>A (p.Gln354=)
c.1065G>A (p.Gln355=)
c.1905G>A (p.Gln635=)
c.1902G>A (p.Gln634=)
c.1764G>A (p.Gln588=)
c.1617G>A (p.Gln539=)
c.1479G>A (p.Gln493=)
c.1458G>A (p.Gln486=)
c.1614G>A (p.Gln538=)
c.1701G>A (p.Gln567=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.80202524G>CCA357398019PRDM8c.1062G>C (p.Gln354His)
c.1065G>C (p.Gln355His)
c.1905G>C (p.Gln635His)
c.1902G>C (p.Gln634His)
c.1764G>C (p.Gln588His)
c.1617G>C (p.Gln539His)
c.1479G>C (p.Gln493His)
c.1458G>C (p.Gln486His)
c.1614G>C (p.Gln538His)
c.1701G>C (p.Gln567His)
4g.80202524G=CA1471293321PRDM8c.1062G= (p.Gln354=)
c.1065G= (p.Gln355=)
c.1905G= (p.Gln635=)
c.1902G= (p.Gln634=)
c.1764G= (p.Gln588=)
c.1617G= (p.Gln539=)
c.1479G= (p.Gln493=)
c.1458G= (p.Gln486=)
c.1614G= (p.Gln538=)
c.1701G= (p.Gln567=)
4g.80202524G>TCA357398020PRDM8c.1062G>T (p.Gln354His)
c.1065G>T (p.Gln355His)
c.1905G>T (p.Gln635His)
c.1902G>T (p.Gln634His)
c.1764G>T (p.Gln588His)
c.1617G>T (p.Gln539His)
c.1479G>T (p.Gln493His)
c.1458G>T (p.Gln486His)
c.1614G>T (p.Gln538His)
c.1701G>T (p.Gln567His)
gnomAD v4
4g.80202525T>ACA357398022PRDM8c.1063T>A (p.Tyr355Asn)
c.1066T>A (p.Tyr356Asn)
c.1906T>A (p.Tyr636Asn)
c.1903T>A (p.Tyr635Asn)
c.1765T>A (p.Tyr589Asn)
c.1618T>A (p.Tyr540Asn)
c.1480T>A (p.Tyr494Asn)
c.1459T>A (p.Tyr487Asn)
c.1615T>A (p.Tyr539Asn)
c.1702T>A (p.Tyr568Asn)
4g.80202525T>CCA357398027PRDM8c.1063T>C (p.Tyr355His)
c.1066T>C (p.Tyr356His)
c.1906T>C (p.Tyr636His)
c.1903T>C (p.Tyr635His)
c.1765T>C (p.Tyr589His)
c.1618T>C (p.Tyr540His)
c.1480T>C (p.Tyr494His)
c.1459T>C (p.Tyr487His)
c.1615T>C (p.Tyr539His)
c.1702T>C (p.Tyr568His)
4g.80202525T>GCA357398025PRDM8c.1063T>G (p.Tyr355Asp)
c.1066T>G (p.Tyr356Asp)
c.1906T>G (p.Tyr636Asp)
c.1903T>G (p.Tyr635Asp)
c.1765T>G (p.Tyr589Asp)
c.1618T>G (p.Tyr540Asp)
c.1480T>G (p.Tyr494Asp)
c.1459T>G (p.Tyr487Asp)
c.1615T>G (p.Tyr539Asp)
c.1702T>G (p.Tyr568Asp)
4g.80202526A=CA1471293324PRDM8c.1064A= (p.Tyr355=)
c.1067A= (p.Tyr356=)
c.1907A= (p.Tyr636=)
c.1904A= (p.Tyr635=)
c.1766A= (p.Tyr589=)
c.1619A= (p.Tyr540=)
c.1481A= (p.Tyr494=)
c.1460A= (p.Tyr487=)
c.1616A= (p.Tyr539=)
c.1703A= (p.Tyr568=)
4g.80202526A>CCA357398029PRDM8c.1064A>C (p.Tyr355Ser)
c.1067A>C (p.Tyr356Ser)
c.1907A>C (p.Tyr636Ser)
c.1904A>C (p.Tyr635Ser)
c.1766A>C (p.Tyr589Ser)
c.1619A>C (p.Tyr540Ser)
c.1481A>C (p.Tyr494Ser)
c.1460A>C (p.Tyr487Ser)
c.1616A>C (p.Tyr539Ser)
c.1703A>C (p.Tyr568Ser)
4g.80202526A>GCA357398034PRDM8c.1064A>G (p.Tyr355Cys)
c.1067A>G (p.Tyr356Cys)
c.1907A>G (p.Tyr636Cys)
c.1904A>G (p.Tyr635Cys)
c.1766A>G (p.Tyr589Cys)
c.1619A>G (p.Tyr540Cys)
c.1481A>G (p.Tyr494Cys)
c.1460A>G (p.Tyr487Cys)
c.1616A>G (p.Tyr539Cys)
c.1703A>G (p.Tyr568Cys)
dbSNP gnomAD v3 gnomAD v4
4g.80202526A>TCA357398035PRDM8c.1064A>T (p.Tyr355Phe)
c.1067A>T (p.Tyr356Phe)
c.1907A>T (p.Tyr636Phe)
c.1904A>T (p.Tyr635Phe)
c.1766A>T (p.Tyr589Phe)
c.1619A>T (p.Tyr540Phe)
c.1481A>T (p.Tyr494Phe)
c.1460A>T (p.Tyr487Phe)
c.1616A>T (p.Tyr539Phe)
c.1703A>T (p.Tyr568Phe)
4g.80202527C>ACA357398037PRDM8c.1065C>A (p.Tyr355Ter)
c.1068C>A (p.Tyr356Ter)
c.1908C>A (p.Tyr636Ter)
c.1905C>A (p.Tyr635Ter)
c.1767C>A (p.Tyr589Ter)
c.1620C>A (p.Tyr540Ter)
c.1482C>A (p.Tyr494Ter)
c.1461C>A (p.Tyr487Ter)
c.1617C>A (p.Tyr539Ter)
c.1704C>A (p.Tyr568Ter)
4g.80202527C>GCA357398038PRDM8c.1065C>G (p.Tyr355Ter)
c.1068C>G (p.Tyr356Ter)
c.1908C>G (p.Tyr636Ter)
c.1905C>G (p.Tyr635Ter)
c.1767C>G (p.Tyr589Ter)
c.1620C>G (p.Tyr540Ter)
c.1482C>G (p.Tyr494Ter)
c.1461C>G (p.Tyr487Ter)
c.1617C>G (p.Tyr539Ter)
c.1704C>G (p.Tyr568Ter)
4g.80202527C>TCA440227189PRDM8c.1065C>T (p.Tyr355=)
c.1068C>T (p.Tyr356=)
c.1908C>T (p.Tyr636=)
c.1905C>T (p.Tyr635=)
c.1767C>T (p.Tyr589=)
c.1620C>T (p.Tyr540=)
c.1482C>T (p.Tyr494=)
c.1461C>T (p.Tyr487=)
c.1617C>T (p.Tyr539=)
c.1704C>T (p.Tyr568=)
dbSNP
4g.80202528C>ACA440227190PRDM8c.1066C>A (p.Arg356=)
c.1069C>A (p.Arg357=)
c.1909C>A (p.Arg637=)
c.1906C>A (p.Arg636=)
c.1768C>A (p.Arg590=)
c.1621C>A (p.Arg541=)
c.1483C>A (p.Arg495=)
c.1462C>A (p.Arg488=)
c.1618C>A (p.Arg540=)
c.1705C>A (p.Arg569=)
gnomAD v4
4g.80202528C>GCA357398039PRDM8c.1066C>G (p.Arg356Gly)
c.1069C>G (p.Arg357Gly)
c.1909C>G (p.Arg637Gly)
c.1906C>G (p.Arg636Gly)
c.1768C>G (p.Arg590Gly)
c.1621C>G (p.Arg541Gly)
c.1483C>G (p.Arg495Gly)
c.1462C>G (p.Arg488Gly)
c.1618C>G (p.Arg540Gly)
c.1705C>G (p.Arg569Gly)
4g.80202528C>TCA357398040PRDM8c.1066C>T (p.Arg356Ter)
c.1069C>T (p.Arg357Ter)
c.1909C>T (p.Arg637Ter)
c.1906C>T (p.Arg636Ter)
c.1768C>T (p.Arg590Ter)
c.1621C>T (p.Arg541Ter)
c.1483C>T (p.Arg495Ter)
c.1462C>T (p.Arg488Ter)
c.1618C>T (p.Arg540Ter)
c.1705C>T (p.Arg569Ter)
gnomAD v4 COSMIC
4g.80202529G>ACA357398042PRDM8c.1067G>A (p.Arg356Gln)
c.1070G>A (p.Arg357Gln)
c.1910G>A (p.Arg637Gln)
c.1907G>A (p.Arg636Gln)
c.1769G>A (p.Arg590Gln)
c.1622G>A (p.Arg541Gln)
c.1484G>A (p.Arg495Gln)
c.1463G>A (p.Arg488Gln)
c.1619G>A (p.Arg540Gln)
c.1706G>A (p.Arg569Gln)
gnomAD v4
4g.80202529G>CCA357398044PRDM8c.1067G>C (p.Arg356Pro)
c.1070G>C (p.Arg357Pro)
c.1910G>C (p.Arg637Pro)
c.1907G>C (p.Arg636Pro)
c.1769G>C (p.Arg590Pro)
c.1622G>C (p.Arg541Pro)
c.1484G>C (p.Arg495Pro)
c.1463G>C (p.Arg488Pro)
c.1619G>C (p.Arg540Pro)
c.1706G>C (p.Arg569Pro)
gnomAD v4
4g.80202529G=CA1471293333PRDM8c.1067G= (p.Arg356=)
c.1070G= (p.Arg357=)
c.1910G= (p.Arg637=)
c.1907G= (p.Arg636=)
c.1769G= (p.Arg590=)
c.1622G= (p.Arg541=)
c.1484G= (p.Arg495=)
c.1463G= (p.Arg488=)
c.1619G= (p.Arg540=)
c.1706G= (p.Arg569=)
4g.80202529G>TCA357398045PRDM8c.1067G>T (p.Arg356Leu)
c.1070G>T (p.Arg357Leu)
c.1910G>T (p.Arg637Leu)
c.1907G>T (p.Arg636Leu)
c.1769G>T (p.Arg590Leu)
c.1622G>T (p.Arg541Leu)
c.1484G>T (p.Arg495Leu)
c.1463G>T (p.Arg488Leu)
c.1619G>T (p.Arg540Leu)
c.1706G>T (p.Arg569Leu)
dbSNP gnomAD v4
4g.80202530A=CA1471293339PRDM8c.1068A= (p.Arg356=)
c.1071A= (p.Arg357=)
c.1911A= (p.Arg637=)
c.1908A= (p.Arg636=)
c.1770A= (p.Arg590=)
c.1623A= (p.Arg541=)
c.1485A= (p.Arg495=)
c.1464A= (p.Arg488=)
c.1620A= (p.Arg540=)
c.1707A= (p.Arg569=)
4g.80202530A>CCA440227201PRDM8c.1068A>C (p.Arg356=)
c.1071A>C (p.Arg357=)
c.1911A>C (p.Arg637=)
c.1908A>C (p.Arg636=)
c.1770A>C (p.Arg590=)
c.1623A>C (p.Arg541=)
c.1485A>C (p.Arg495=)
c.1464A>C (p.Arg488=)
c.1620A>C (p.Arg540=)
c.1707A>C (p.Arg569=)
4g.80202530A>GCA440227203PRDM8c.1068A>G (p.Arg356=)
c.1071A>G (p.Arg357=)
c.1911A>G (p.Arg637=)
c.1908A>G (p.Arg636=)
c.1770A>G (p.Arg590=)
c.1623A>G (p.Arg541=)
c.1485A>G (p.Arg495=)
c.1464A>G (p.Arg488=)
c.1620A>G (p.Arg540=)
c.1707A>G (p.Arg569=)
4g.80202530A>TCA440227209PRDM8c.1068A>T (p.Arg356=)
c.1071A>T (p.Arg357=)
c.1911A>T (p.Arg637=)
c.1908A>T (p.Arg636=)
c.1770A>T (p.Arg590=)
c.1623A>T (p.Arg541=)
c.1485A>T (p.Arg495=)
c.1464A>T (p.Arg488=)
c.1620A>T (p.Arg540=)
c.1707A>T (p.Arg569=)
dbSNP gnomAD v4
4g.80202531G>ACA357398048PRDM8c.1069G>A (p.Ala357Thr)
c.1072G>A (p.Ala358Thr)
c.1912G>A (p.Ala638Thr)
c.1909G>A (p.Ala637Thr)
c.1771G>A (p.Ala591Thr)
c.1624G>A (p.Ala542Thr)
c.1486G>A (p.Ala496Thr)
c.1465G>A (p.Ala489Thr)
c.1621G>A (p.Ala541Thr)
c.1708G>A (p.Ala570Thr)
dbSNP gnomAD v2 gnomAD v4
4g.80202531G>CCA357398047PRDM8c.1069G>C (p.Ala357Pro)
c.1072G>C (p.Ala358Pro)
c.1912G>C (p.Ala638Pro)
c.1909G>C (p.Ala637Pro)
c.1771G>C (p.Ala591Pro)
c.1624G>C (p.Ala542Pro)
c.1486G>C (p.Ala496Pro)
c.1465G>C (p.Ala489Pro)
c.1621G>C (p.Ala541Pro)
c.1708G>C (p.Ala570Pro)
4g.80202531G=CA1471293345PRDM8c.1069G= (p.Ala357=)
c.1072G= (p.Ala358=)
c.1912G= (p.Ala638=)
c.1909G= (p.Ala637=)
c.1771G= (p.Ala591=)
c.1624G= (p.Ala542=)
c.1486G= (p.Ala496=)
c.1465G= (p.Ala489=)
c.1621G= (p.Ala541=)
c.1708G= (p.Ala570=)
4g.80202531G>TCA357398046PRDM8c.1069G>T (p.Ala357Ser)
c.1072G>T (p.Ala358Ser)
c.1912G>T (p.Ala638Ser)
c.1909G>T (p.Ala637Ser)
c.1771G>T (p.Ala591Ser)
c.1624G>T (p.Ala542Ser)
c.1486G>T (p.Ala496Ser)
c.1465G>T (p.Ala489Ser)
c.1621G>T (p.Ala541Ser)
c.1708G>T (p.Ala570Ser)
4g.80202532C>ACA357398051PRDM8c.1070C>A (p.Ala357Asp)
c.1073C>A (p.Ala358Asp)
c.1913C>A (p.Ala638Asp)
c.1910C>A (p.Ala637Asp)
c.1772C>A (p.Ala591Asp)
c.1625C>A (p.Ala542Asp)
c.1487C>A (p.Ala496Asp)
c.1466C>A (p.Ala489Asp)
c.1622C>A (p.Ala541Asp)
c.1709C>A (p.Ala570Asp)
dbSNP
4g.80202532C=CA1471293349PRDM8c.1070C= (p.Ala357=)
c.1073C= (p.Ala358=)
c.1913C= (p.Ala638=)
c.1910C= (p.Ala637=)
c.1772C= (p.Ala591=)
c.1625C= (p.Ala542=)
c.1487C= (p.Ala496=)
c.1466C= (p.Ala489=)
c.1622C= (p.Ala541=)
c.1709C= (p.Ala570=)
4g.80202532C>GCA357398058PRDM8c.1070C>G (p.Ala357Gly)
c.1073C>G (p.Ala358Gly)
c.1913C>G (p.Ala638Gly)
c.1910C>G (p.Ala637Gly)
c.1772C>G (p.Ala591Gly)
c.1625C>G (p.Ala542Gly)
c.1487C>G (p.Ala496Gly)
c.1466C>G (p.Ala489Gly)
c.1622C>G (p.Ala541Gly)
c.1709C>G (p.Ala570Gly)
4g.80202532C>TCA357398055PRDM8c.1070C>T (p.Ala357Val)
c.1073C>T (p.Ala358Val)
c.1913C>T (p.Ala638Val)
c.1910C>T (p.Ala637Val)
c.1772C>T (p.Ala591Val)
c.1625C>T (p.Ala542Val)
c.1487C>T (p.Ala496Val)
c.1466C>T (p.Ala489Val)
c.1622C>T (p.Ala541Val)
c.1709C>T (p.Ala570Val)
dbSNP gnomAD v3 gnomAD v4
4g.80202533C>ACA440227217PRDM8c.1071C>A (p.Ala357=)
c.1074C>A (p.Ala358=)
c.1914C>A (p.Ala638=)
c.1911C>A (p.Ala637=)
c.1773C>A (p.Ala591=)
c.1626C>A (p.Ala542=)
c.1488C>A (p.Ala496=)
c.1467C>A (p.Ala489=)
c.1623C>A (p.Ala541=)
c.1710C>A (p.Ala570=)
gnomAD v4
4g.80202533C>GCA440227219PRDM8c.1071C>G (p.Ala357=)
c.1074C>G (p.Ala358=)
c.1914C>G (p.Ala638=)
c.1911C>G (p.Ala637=)
c.1773C>G (p.Ala591=)
c.1626C>G (p.Ala542=)
c.1488C>G (p.Ala496=)
c.1467C>G (p.Ala489=)
c.1623C>G (p.Ala541=)
c.1710C>G (p.Ala570=)
4g.80202533C>TCA440227221PRDM8c.1071C>T (p.Ala357=)
c.1074C>T (p.Ala358=)
c.1914C>T (p.Ala638=)
c.1911C>T (p.Ala637=)
c.1773C>T (p.Ala591=)
c.1626C>T (p.Ala542=)
c.1488C>T (p.Ala496=)
c.1467C>T (p.Ala489=)
c.1623C>T (p.Ala541=)
c.1710C>T (p.Ala570=)
gnomAD v4
4g.80202534T>ACA357398061PRDM8c.1072T>A (p.Ser358Thr)
c.1075T>A (p.Ser359Thr)
c.1915T>A (p.Ser639Thr)
c.1912T>A (p.Ser638Thr)
c.1774T>A (p.Ser592Thr)
c.1627T>A (p.Ser543Thr)
c.1489T>A (p.Ser497Thr)
c.1468T>A (p.Ser490Thr)
c.1624T>A (p.Ser542Thr)
c.1711T>A (p.Ser571Thr)
4g.80202534T>CCA357398063PRDM8c.1072T>C (p.Ser358Pro)
c.1075T>C (p.Ser359Pro)
c.1915T>C (p.Ser639Pro)
c.1912T>C (p.Ser638Pro)
c.1774T>C (p.Ser592Pro)
c.1627T>C (p.Ser543Pro)
c.1489T>C (p.Ser497Pro)
c.1468T>C (p.Ser490Pro)
c.1624T>C (p.Ser542Pro)
c.1711T>C (p.Ser571Pro)
4g.80202534T>GCA357398064PRDM8c.1072T>G (p.Ser358Ala)
c.1075T>G (p.Ser359Ala)
c.1915T>G (p.Ser639Ala)
c.1912T>G (p.Ser638Ala)
c.1774T>G (p.Ser592Ala)
c.1627T>G (p.Ser543Ala)
c.1489T>G (p.Ser497Ala)
c.1468T>G (p.Ser490Ala)
c.1624T>G (p.Ser542Ala)
c.1711T>G (p.Ser571Ala)
4g.80202535C>ACA357398066PRDM8c.1073C>A (p.Ser358Ter)
c.1076C>A (p.Ser359Ter)
c.1916C>A (p.Ser639Ter)
c.1913C>A (p.Ser638Ter)
c.1775C>A (p.Ser592Ter)
c.1628C>A (p.Ser543Ter)
c.1490C>A (p.Ser497Ter)
c.1469C>A (p.Ser490Ter)
c.1625C>A (p.Ser542Ter)
c.1712C>A (p.Ser571Ter)
gnomAD v4
4g.80202535C=CA1471293353PRDM8c.1073C= (p.Ser358=)
c.1076C= (p.Ser359=)
c.1916C= (p.Ser639=)
c.1913C= (p.Ser638=)
c.1775C= (p.Ser592=)
c.1628C= (p.Ser543=)
c.1490C= (p.Ser497=)
c.1469C= (p.Ser490=)
c.1625C= (p.Ser542=)
c.1712C= (p.Ser571=)
4g.80202535C>GCA357398068PRDM8c.1073C>G (p.Ser358Trp)
c.1076C>G (p.Ser359Trp)
c.1916C>G (p.Ser639Trp)
c.1913C>G (p.Ser638Trp)
c.1775C>G (p.Ser592Trp)
c.1628C>G (p.Ser543Trp)
c.1490C>G (p.Ser497Trp)
c.1469C>G (p.Ser490Trp)
c.1625C>G (p.Ser542Trp)
c.1712C>G (p.Ser571Trp)
gnomAD v4
4g.80202535C>TCA357398070PRDM8c.1073C>T (p.Ser358Leu)
c.1076C>T (p.Ser359Leu)
c.1916C>T (p.Ser639Leu)
c.1913C>T (p.Ser638Leu)
c.1775C>T (p.Ser592Leu)
c.1628C>T (p.Ser543Leu)
c.1490C>T (p.Ser497Leu)
c.1469C>T (p.Ser490Leu)
c.1625C>T (p.Ser542Leu)
c.1712C>T (p.Ser571Leu)
dbSNP gnomAD v3 gnomAD v4
4g.80202536G>ACA440227232PRDM8c.1074G>A (p.Ser358=)
c.1077G>A (p.Ser359=)
c.1917G>A (p.Ser639=)
c.1914G>A (p.Ser638=)
c.1776G>A (p.Ser592=)
c.1629G>A (p.Ser543=)
c.1491G>A (p.Ser497=)
c.1470G>A (p.Ser490=)
c.1626G>A (p.Ser542=)
c.1713G>A (p.Ser571=)
gnomAD v4
4g.80202536G>CCA2982373PRDM8c.1074G>C (p.Ser358=)
c.1077G>C (p.Ser359=)
c.1917G>C (p.Ser639=)
c.1914G>C (p.Ser638=)
c.1776G>C (p.Ser592=)
c.1629G>C (p.Ser543=)
c.1491G>C (p.Ser497=)
c.1470G>C (p.Ser490=)
c.1626G>C (p.Ser542=)
c.1713G>C (p.Ser571=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.80202536G=CA1471293359PRDM8c.1074G= (p.Ser358=)
c.1077G= (p.Ser359=)
c.1917G= (p.Ser639=)
c.1914G= (p.Ser638=)
c.1776G= (p.Ser592=)
c.1629G= (p.Ser543=)
c.1491G= (p.Ser497=)
c.1470G= (p.Ser490=)
c.1626G= (p.Ser542=)
c.1713G= (p.Ser571=)
4g.80202536G>TCA440227237PRDM8c.1074G>T (p.Ser358=)
c.1077G>T (p.Ser359=)
c.1917G>T (p.Ser639=)
c.1914G>T (p.Ser638=)
c.1776G>T (p.Ser592=)
c.1629G>T (p.Ser543=)
c.1491G>T (p.Ser497=)
c.1470G>T (p.Ser490=)
c.1626G>T (p.Ser542=)
c.1713G>T (p.Ser571=)
gnomAD v4
4g.80202537G>ACA357398081PRDM8c.1075G>A (p.Gly359Ser)
c.1078G>A (p.Gly360Ser)
c.1918G>A (p.Gly640Ser)
c.1915G>A (p.Gly639Ser)
c.1777G>A (p.Gly593Ser)
c.1630G>A (p.Gly544Ser)
c.1492G>A (p.Gly498Ser)
c.1471G>A (p.Gly491Ser)
c.1627G>A (p.Gly543Ser)
c.1714G>A (p.Gly572Ser)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.80202537G>CCA357398087PRDM8c.1075G>C (p.Gly359Arg)
c.1078G>C (p.Gly360Arg)
c.1918G>C (p.Gly640Arg)
c.1915G>C (p.Gly639Arg)
c.1777G>C (p.Gly593Arg)
c.1630G>C (p.Gly544Arg)
c.1492G>C (p.Gly498Arg)
c.1471G>C (p.Gly491Arg)
c.1627G>C (p.Gly543Arg)
c.1714G>C (p.Gly572Arg)
gnomAD v4
4g.80202537G=CA1471293367PRDM8c.1075G= (p.Gly359=)
c.1078G= (p.Gly360=)
c.1918G= (p.Gly640=)
c.1915G= (p.Gly639=)
c.1777G= (p.Gly593=)
c.1630G= (p.Gly544=)
c.1492G= (p.Gly498=)
c.1471G= (p.Gly491=)
c.1627G= (p.Gly543=)
c.1714G= (p.Gly572=)
4g.80202537G>TCA357398084PRDM8c.1075G>T (p.Gly359Cys)
c.1078G>T (p.Gly360Cys)
c.1918G>T (p.Gly640Cys)
c.1915G>T (p.Gly639Cys)
c.1777G>T (p.Gly593Cys)
c.1630G>T (p.Gly544Cys)
c.1492G>T (p.Gly498Cys)
c.1471G>T (p.Gly491Cys)
c.1627G>T (p.Gly543Cys)
c.1714G>T (p.Gly572Cys)
gnomAD v4
4g.80202538G>ACA357398088PRDM8c.1076G>A (p.Gly359Asp)
c.1079G>A (p.Gly360Asp)
c.1919G>A (p.Gly640Asp)
c.1916G>A (p.Gly639Asp)
c.1778G>A (p.Gly593Asp)
c.1631G>A (p.Gly544Asp)
c.1493G>A (p.Gly498Asp)
c.1472G>A (p.Gly491Asp)
c.1628G>A (p.Gly543Asp)
c.1715G>A (p.Gly572Asp)
4g.80202538G>CCA357398089PRDM8c.1076G>C (p.Gly359Ala)
c.1079G>C (p.Gly360Ala)
c.1919G>C (p.Gly640Ala)
c.1916G>C (p.Gly639Ala)
c.1778G>C (p.Gly593Ala)
c.1631G>C (p.Gly544Ala)
c.1493G>C (p.Gly498Ala)
c.1472G>C (p.Gly491Ala)
c.1628G>C (p.Gly543Ala)
c.1715G>C (p.Gly572Ala)
4g.80202538G>TCA357398090PRDM8c.1076G>T (p.Gly359Val)
c.1079G>T (p.Gly360Val)
c.1919G>T (p.Gly640Val)
c.1916G>T (p.Gly639Val)
c.1778G>T (p.Gly593Val)
c.1631G>T (p.Gly544Val)
c.1493G>T (p.Gly498Val)
c.1472G>T (p.Gly491Val)
c.1628G>T (p.Gly543Val)
c.1715G>T (p.Gly572Val)
4g.80202539C>ACA440227247PRDM8c.1077C>A (p.Gly359=)
c.1080C>A (p.Gly360=)
c.1920C>A (p.Gly640=)
c.1917C>A (p.Gly639=)
c.1779C>A (p.Gly593=)
c.1632C>A (p.Gly544=)
c.1494C>A (p.Gly498=)
c.1473C>A (p.Gly491=)
c.1629C>A (p.Gly543=)
c.1716C>A (p.Gly572=)
dbSNP gnomAD v2 gnomAD v4
4g.80202539C=CA1471293371PRDM8c.1077C= (p.Gly359=)
c.1080C= (p.Gly360=)
c.1920C= (p.Gly640=)
c.1917C= (p.Gly639=)
c.1779C= (p.Gly593=)
c.1632C= (p.Gly544=)
c.1494C= (p.Gly498=)
c.1473C= (p.Gly491=)
c.1629C= (p.Gly543=)
c.1716C= (p.Gly572=)
4g.80202539C>GCA440227249PRDM8c.1077C>G (p.Gly359=)
c.1080C>G (p.Gly360=)
c.1920C>G (p.Gly640=)
c.1917C>G (p.Gly639=)
c.1779C>G (p.Gly593=)
c.1632C>G (p.Gly544=)
c.1494C>G (p.Gly498=)
c.1473C>G (p.Gly491=)
c.1629C>G (p.Gly543=)
c.1716C>G (p.Gly572=)
4g.80202539C>TCA2982374PRDM8c.1077C>T (p.Gly359=)
c.1080C>T (p.Gly360=)
c.1920C>T (p.Gly640=)
c.1917C>T (p.Gly639=)
c.1779C>T (p.Gly593=)
c.1632C>T (p.Gly544=)
c.1494C>T (p.Gly498=)
c.1473C>T (p.Gly491=)
c.1629C>T (p.Gly543=)
c.1716C>T (p.Gly572=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.80202540A>CCA357398092PRDM8c.1078A>C (p.Ser360Arg)
c.1081A>C (p.Ser361Arg)
c.1921A>C (p.Ser641Arg)
c.1918A>C (p.Ser640Arg)
c.1780A>C (p.Ser594Arg)
c.1633A>C (p.Ser545Arg)
c.1495A>C (p.Ser499Arg)
c.1474A>C (p.Ser492Arg)
c.1630A>C (p.Ser544Arg)
c.1717A>C (p.Ser573Arg)
4g.80202540A>GCA357398095PRDM8c.1078A>G (p.Ser360Gly)
c.1081A>G (p.Ser361Gly)
c.1921A>G (p.Ser641Gly)
c.1918A>G (p.Ser640Gly)
c.1780A>G (p.Ser594Gly)
c.1633A>G (p.Ser545Gly)
c.1495A>G (p.Ser499Gly)
c.1474A>G (p.Ser492Gly)
c.1630A>G (p.Ser544Gly)
c.1717A>G (p.Ser573Gly)
gnomAD v4
4g.80202540A>TCA357398093PRDM8c.1078A>T (p.Ser360Cys)
c.1081A>T (p.Ser361Cys)
c.1921A>T (p.Ser641Cys)
c.1918A>T (p.Ser640Cys)
c.1780A>T (p.Ser594Cys)
c.1633A>T (p.Ser545Cys)
c.1495A>T (p.Ser499Cys)
c.1474A>T (p.Ser492Cys)
c.1630A>T (p.Ser544Cys)
c.1717A>T (p.Ser573Cys)
4g.80202541G>ACA357398099PRDM8c.1079G>A (p.Ser360Asn)
c.1082G>A (p.Ser361Asn)
c.1922G>A (p.Ser641Asn)
c.1919G>A (p.Ser640Asn)
c.1781G>A (p.Ser594Asn)
c.1634G>A (p.Ser545Asn)
c.1496G>A (p.Ser499Asn)
c.1475G>A (p.Ser492Asn)
c.1631G>A (p.Ser544Asn)
c.1718G>A (p.Ser573Asn)
gnomAD v4
4g.80202541G>CCA357398101PRDM8c.1079G>C (p.Ser360Thr)
c.1082G>C (p.Ser361Thr)
c.1922G>C (p.Ser641Thr)
c.1919G>C (p.Ser640Thr)
c.1781G>C (p.Ser594Thr)
c.1634G>C (p.Ser545Thr)
c.1496G>C (p.Ser499Thr)
c.1475G>C (p.Ser492Thr)
c.1631G>C (p.Ser544Thr)
c.1718G>C (p.Ser573Thr)
4g.80202541G=CA1471293375PRDM8c.1079G= (p.Ser360=)
c.1082G= (p.Ser361=)
c.1922G= (p.Ser641=)
c.1919G= (p.Ser640=)
c.1781G= (p.Ser594=)
c.1634G= (p.Ser545=)
c.1496G= (p.Ser499=)
c.1475G= (p.Ser492=)
c.1631G= (p.Ser544=)
c.1718G= (p.Ser573=)
4g.80202541G>TCA357398104PRDM8c.1079G>T (p.Ser360Ile)
c.1082G>T (p.Ser361Ile)
c.1922G>T (p.Ser641Ile)
c.1919G>T (p.Ser640Ile)
c.1781G>T (p.Ser594Ile)
c.1634G>T (p.Ser545Ile)
c.1496G>T (p.Ser499Ile)
c.1475G>T (p.Ser492Ile)
c.1631G>T (p.Ser544Ile)
c.1718G>T (p.Ser573Ile)
ClinVar dbSNP gnomAD v4
4g.80202542C>ACA357398111PRDM8c.1080C>A (p.Ser360Arg)
c.1083C>A (p.Ser361Arg)
c.1923C>A (p.Ser641Arg)
c.1920C>A (p.Ser640Arg)
c.1782C>A (p.Ser594Arg)
c.1635C>A (p.Ser545Arg)
c.1497C>A (p.Ser499Arg)
c.1476C>A (p.Ser492Arg)
c.1632C>A (p.Ser544Arg)
c.1719C>A (p.Ser573Arg)
gnomAD v4
4g.80202542C=CA1471293378PRDM8c.1080C= (p.Ser360=)
c.1083C= (p.Ser361=)
c.1923C= (p.Ser641=)
c.1920C= (p.Ser640=)
c.1782C= (p.Ser594=)
c.1635C= (p.Ser545=)
c.1497C= (p.Ser499=)
c.1476C= (p.Ser492=)
c.1632C= (p.Ser544=)
c.1719C= (p.Ser573=)
4g.80202542C>GCA357398112PRDM8c.1080C>G (p.Ser360Arg)
c.1083C>G (p.Ser361Arg)
c.1923C>G (p.Ser641Arg)
c.1920C>G (p.Ser640Arg)
c.1782C>G (p.Ser594Arg)
c.1635C>G (p.Ser545Arg)
c.1497C>G (p.Ser499Arg)
c.1476C>G (p.Ser492Arg)
c.1632C>G (p.Ser544Arg)
c.1719C>G (p.Ser573Arg)
4g.80202542C>TCA440227265PRDM8c.1080C>T (p.Ser360=)
c.1083C>T (p.Ser361=)
c.1923C>T (p.Ser641=)
c.1920C>T (p.Ser640=)
c.1782C>T (p.Ser594=)
c.1635C>T (p.Ser545=)
c.1497C>T (p.Ser499=)
c.1476C>T (p.Ser492=)
c.1632C>T (p.Ser544=)
c.1719C>T (p.Ser573=)
dbSNP gnomAD v2 gnomAD v4
4g.80202543T>ACA357398114PRDM8c.1081T>A (p.Tyr361Asn)
c.1084T>A (p.Tyr362Asn)
c.1924T>A (p.Tyr642Asn)
c.1921T>A (p.Tyr641Asn)
c.1783T>A (p.Tyr595Asn)
c.1636T>A (p.Tyr546Asn)
c.1498T>A (p.Tyr500Asn)
c.1477T>A (p.Tyr493Asn)
c.1633T>A (p.Tyr545Asn)
c.1720T>A (p.Tyr574Asn)
gnomAD v4
4g.80202543T>CCA357398116PRDM8c.1081T>C (p.Tyr361His)
c.1084T>C (p.Tyr362His)
c.1924T>C (p.Tyr642His)
c.1921T>C (p.Tyr641His)
c.1783T>C (p.Tyr595His)
c.1636T>C (p.Tyr546His)
c.1498T>C (p.Tyr500His)
c.1477T>C (p.Tyr493His)
c.1633T>C (p.Tyr545His)
c.1720T>C (p.Tyr574His)
dbSNP gnomAD v2 gnomAD v4
4g.80202543T>GCA357398118PRDM8c.1081T>G (p.Tyr361Asp)
c.1084T>G (p.Tyr362Asp)
c.1924T>G (p.Tyr642Asp)
c.1921T>G (p.Tyr641Asp)
c.1783T>G (p.Tyr595Asp)
c.1636T>G (p.Tyr546Asp)
c.1498T>G (p.Tyr500Asp)
c.1477T>G (p.Tyr493Asp)
c.1633T>G (p.Tyr545Asp)
c.1720T>G (p.Tyr574Asp)
gnomAD v4
4g.80202543T=CA1471293383PRDM8c.1081T= (p.Tyr361=)
c.1084T= (p.Tyr362=)
c.1924T= (p.Tyr642=)
c.1921T= (p.Tyr641=)
c.1783T= (p.Tyr595=)
c.1636T= (p.Tyr546=)
c.1498T= (p.Tyr500=)
c.1477T= (p.Tyr493=)
c.1633T= (p.Tyr545=)
c.1720T= (p.Tyr574=)
4g.80202544A>CCA357398120PRDM8c.1082A>C (p.Tyr361Ser)
c.1085A>C (p.Tyr362Ser)
c.1925A>C (p.Tyr642Ser)
c.1922A>C (p.Tyr641Ser)
c.1784A>C (p.Tyr595Ser)
c.1637A>C (p.Tyr546Ser)
c.1499A>C (p.Tyr500Ser)
c.1478A>C (p.Tyr493Ser)
c.1634A>C (p.Tyr545Ser)
c.1721A>C (p.Tyr574Ser)
4g.80202544A>GCA357398121PRDM8c.1082A>G (p.Tyr361Cys)
c.1085A>G (p.Tyr362Cys)
c.1925A>G (p.Tyr642Cys)
c.1922A>G (p.Tyr641Cys)
c.1784A>G (p.Tyr595Cys)
c.1637A>G (p.Tyr546Cys)
c.1499A>G (p.Tyr500Cys)
c.1478A>G (p.Tyr493Cys)
c.1634A>G (p.Tyr545Cys)
c.1721A>G (p.Tyr574Cys)
4g.80202544A>TCA357398122PRDM8c.1082A>T (p.Tyr361Phe)
c.1085A>T (p.Tyr362Phe)
c.1925A>T (p.Tyr642Phe)
c.1922A>T (p.Tyr641Phe)
c.1784A>T (p.Tyr595Phe)
c.1637A>T (p.Tyr546Phe)
c.1499A>T (p.Tyr500Phe)
c.1478A>T (p.Tyr493Phe)
c.1634A>T (p.Tyr545Phe)
c.1721A>T (p.Tyr574Phe)
4g.80202545delCA2671178068PRDM8c.1083del (p.Phe362SerfsTer28)
c.1086del (p.Phe363SerfsTer28)
c.1926del (p.Phe643SerfsTer28)
c.1923del (p.Phe642SerfsTer28)
c.1785del (p.Phe596SerfsTer28)
c.1638del (p.Phe547SerfsTer28)
c.1500del (p.Phe501SerfsTer28)
c.1479del (p.Phe494SerfsTer28)
c.1635del (p.Phe546SerfsTer28)
c.1722del (p.Phe575SerfsTer28)
gnomAD v4
4g.80202545C>ACA357398125PRDM8c.1083C>A (p.Tyr361Ter)
c.1086C>A (p.Tyr362Ter)
c.1926C>A (p.Tyr642Ter)
c.1923C>A (p.Tyr641Ter)
c.1785C>A (p.Tyr595Ter)
c.1638C>A (p.Tyr546Ter)
c.1500C>A (p.Tyr500Ter)
c.1479C>A (p.Tyr493Ter)
c.1635C>A (p.Tyr545Ter)
c.1722C>A (p.Tyr574Ter)
4g.80202545C=CA1471293386PRDM8c.1083C= (p.Tyr361=)
c.1086C= (p.Tyr362=)
c.1926C= (p.Tyr642=)
c.1923C= (p.Tyr641=)
c.1785C= (p.Tyr595=)
c.1638C= (p.Tyr546=)
c.1500C= (p.Tyr500=)
c.1479C= (p.Tyr493=)
c.1635C= (p.Tyr545=)
c.1722C= (p.Tyr574=)
4g.80202545C>GCA357398126PRDM8c.1083C>G (p.Tyr361Ter)
c.1086C>G (p.Tyr362Ter)
c.1926C>G (p.Tyr642Ter)
c.1923C>G (p.Tyr641Ter)
c.1785C>G (p.Tyr595Ter)
c.1638C>G (p.Tyr546Ter)
c.1500C>G (p.Tyr500Ter)
c.1479C>G (p.Tyr493Ter)
c.1635C>G (p.Tyr545Ter)
c.1722C>G (p.Tyr574Ter)
4g.80202545C>TCA440227273PRDM8c.1083C>T (p.Tyr361=)
c.1086C>T (p.Tyr362=)
c.1926C>T (p.Tyr642=)
c.1923C>T (p.Tyr641=)
c.1785C>T (p.Tyr595=)
c.1638C>T (p.Tyr546=)
c.1500C>T (p.Tyr500=)
c.1479C>T (p.Tyr493=)
c.1635C>T (p.Tyr545=)
c.1722C>T (p.Tyr574=)
dbSNP
4g.80202546T>ACA357398128PRDM8c.1084T>A (p.Phe362Ile)
c.1087T>A (p.Phe363Ile)
c.1927T>A (p.Phe643Ile)
c.1924T>A (p.Phe642Ile)
c.1786T>A (p.Phe596Ile)
c.1639T>A (p.Phe547Ile)
c.1501T>A (p.Phe501Ile)
c.1480T>A (p.Phe494Ile)
c.1636T>A (p.Phe546Ile)
c.1723T>A (p.Phe575Ile)
ClinVar dbSNP gnomAD v4
4g.80202546T>CCA357398131PRDM8c.1084T>C (p.Phe362Leu)
c.1087T>C (p.Phe363Leu)
c.1927T>C (p.Phe643Leu)
c.1924T>C (p.Phe642Leu)
c.1786T>C (p.Phe596Leu)
c.1639T>C (p.Phe547Leu)
c.1501T>C (p.Phe501Leu)
c.1480T>C (p.Phe494Leu)
c.1636T>C (p.Phe546Leu)
c.1723T>C (p.Phe575Leu)
ClinVar gnomAD v4
4g.80202546T>GCA357398133PRDM8c.1084T>G (p.Phe362Val)
c.1087T>G (p.Phe363Val)
c.1927T>G (p.Phe643Val)
c.1924T>G (p.Phe642Val)
c.1786T>G (p.Phe596Val)
c.1639T>G (p.Phe547Val)
c.1501T>G (p.Phe501Val)
c.1480T>G (p.Phe494Val)
c.1636T>G (p.Phe546Val)
c.1723T>G (p.Phe575Val)
4g.80202547T>ACA357398134PRDM8c.1085T>A (p.Phe362Tyr)
c.1088T>A (p.Phe363Tyr)
c.1928T>A (p.Phe643Tyr)
c.1925T>A (p.Phe642Tyr)
c.1787T>A (p.Phe596Tyr)
c.1640T>A (p.Phe547Tyr)
c.1502T>A (p.Phe501Tyr)
c.1481T>A (p.Phe494Tyr)
c.1637T>A (p.Phe546Tyr)
c.1724T>A (p.Phe575Tyr)
4g.80202547T>CCA357398135PRDM8c.1085T>C (p.Phe362Ser)
c.1088T>C (p.Phe363Ser)
c.1928T>C (p.Phe643Ser)
c.1925T>C (p.Phe642Ser)
c.1787T>C (p.Phe596Ser)
c.1640T>C (p.Phe547Ser)
c.1502T>C (p.Phe501Ser)
c.1481T>C (p.Phe494Ser)
c.1637T>C (p.Phe546Ser)
c.1724T>C (p.Phe575Ser)
dbSNP gnomAD v4
4g.80202547T>GCA357398139PRDM8c.1085T>G (p.Phe362Cys)
c.1088T>G (p.Phe363Cys)
c.1928T>G (p.Phe643Cys)
c.1925T>G (p.Phe642Cys)
c.1787T>G (p.Phe596Cys)
c.1640T>G (p.Phe547Cys)
c.1502T>G (p.Phe501Cys)
c.1481T>G (p.Phe494Cys)
c.1637T>G (p.Phe546Cys)
c.1724T>G (p.Phe575Cys)
4g.80202547T=CA1471293390PRDM8c.1085T= (p.Phe362=)
c.1088T= (p.Phe363=)
c.1928T= (p.Phe643=)
c.1925T= (p.Phe642=)
c.1787T= (p.Phe596=)
c.1640T= (p.Phe547=)
c.1502T= (p.Phe501=)
c.1481T= (p.Phe494=)
c.1637T= (p.Phe546=)
c.1724T= (p.Phe575=)
4g.80202548C>ACA357398142PRDM8c.1086C>A (p.Phe362Leu)
c.1089C>A (p.Phe363Leu)
c.1929C>A (p.Phe643Leu)
c.1926C>A (p.Phe642Leu)
c.1788C>A (p.Phe596Leu)
c.1641C>A (p.Phe547Leu)
c.1503C>A (p.Phe501Leu)
c.1482C>A (p.Phe494Leu)
c.1638C>A (p.Phe546Leu)
c.1725C>A (p.Phe575Leu)
dbSNP gnomAD v4
4g.80202548C=CA1471293396PRDM8c.1086C= (p.Phe362=)
c.1089C= (p.Phe363=)
c.1929C= (p.Phe643=)
c.1926C= (p.Phe642=)
c.1788C= (p.Phe596=)
c.1641C= (p.Phe547=)
c.1503C= (p.Phe501=)
c.1482C= (p.Phe494=)
c.1638C= (p.Phe546=)
c.1725C= (p.Phe575=)
4g.80202548C>GCA357398143PRDM8c.1086C>G (p.Phe362Leu)
c.1089C>G (p.Phe363Leu)
c.1929C>G (p.Phe643Leu)
c.1926C>G (p.Phe642Leu)
c.1788C>G (p.Phe596Leu)
c.1641C>G (p.Phe547Leu)
c.1503C>G (p.Phe501Leu)
c.1482C>G (p.Phe494Leu)
c.1638C>G (p.Phe546Leu)
c.1725C>G (p.Phe575Leu)
4g.80202548C>TCA440227285PRDM8c.1086C>T (p.Phe362=)
c.1089C>T (p.Phe363=)
c.1929C>T (p.Phe643=)
c.1926C>T (p.Phe642=)
c.1788C>T (p.Phe596=)
c.1641C>T (p.Phe547=)
c.1503C>T (p.Phe501=)
c.1482C>T (p.Phe494=)
c.1638C>T (p.Phe546=)
c.1725C>T (p.Phe575=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.80202549G>ACA357398145PRDM8c.1087G>A (p.Gly363Ser)
c.1090G>A (p.Gly364Ser)
c.1930G>A (p.Gly644Ser)
c.1927G>A (p.Gly643Ser)
c.1789G>A (p.Gly597Ser)
c.1642G>A (p.Gly548Ser)
c.1504G>A (p.Gly502Ser)
c.1483G>A (p.Gly495Ser)
c.1639G>A (p.Gly547Ser)
c.1726G>A (p.Gly576Ser)
gnomAD v4
4g.80202549G>CCA357398146PRDM8c.1087G>C (p.Gly363Arg)
c.1090G>C (p.Gly364Arg)
c.1930G>C (p.Gly644Arg)
c.1927G>C (p.Gly643Arg)
c.1789G>C (p.Gly597Arg)
c.1642G>C (p.Gly548Arg)
c.1504G>C (p.Gly502Arg)
c.1483G>C (p.Gly495Arg)
c.1639G>C (p.Gly547Arg)
c.1726G>C (p.Gly576Arg)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.80202549G=CA1471293412PRDM8c.1087G= (p.Gly363=)
c.1090G= (p.Gly364=)
c.1930G= (p.Gly644=)
c.1927G= (p.Gly643=)
c.1789G= (p.Gly597=)
c.1642G= (p.Gly548=)
c.1504G= (p.Gly502=)
c.1483G= (p.Gly495=)
c.1639G= (p.Gly547=)
c.1726G= (p.Gly576=)
4g.80202549G>TCA357398148PRDM8c.1087G>T (p.Gly363Cys)
c.1090G>T (p.Gly364Cys)
c.1930G>T (p.Gly644Cys)
c.1927G>T (p.Gly643Cys)
c.1789G>T (p.Gly597Cys)
c.1642G>T (p.Gly548Cys)
c.1504G>T (p.Gly502Cys)
c.1483G>T (p.Gly495Cys)
c.1639G>T (p.Gly547Cys)
c.1726G>T (p.Gly576Cys)
dbSNP gnomAD v4
4g.80202550G>ACA357398150PRDM8c.1088G>A (p.Gly363Asp)
c.1091G>A (p.Gly364Asp)
c.1931G>A (p.Gly644Asp)
c.1928G>A (p.Gly643Asp)
c.1790G>A (p.Gly597Asp)
c.1643G>A (p.Gly548Asp)
c.1505G>A (p.Gly502Asp)
c.1484G>A (p.Gly495Asp)
c.1640G>A (p.Gly547Asp)
c.1727G>A (p.Gly576Asp)
4g.80202550G>CCA357398151PRDM8c.1088G>C (p.Gly363Ala)
c.1091G>C (p.Gly364Ala)
c.1931G>C (p.Gly644Ala)
c.1928G>C (p.Gly643Ala)
c.1790G>C (p.Gly597Ala)
c.1643G>C (p.Gly548Ala)
c.1505G>C (p.Gly502Ala)
c.1484G>C (p.Gly495Ala)
c.1640G>C (p.Gly547Ala)
c.1727G>C (p.Gly576Ala)
dbSNP gnomAD v3 gnomAD v4
4g.80202550G=CA1471293417PRDM8c.1088G= (p.Gly363=)
c.1091G= (p.Gly364=)
c.1931G= (p.Gly644=)
c.1928G= (p.Gly643=)
c.1790G= (p.Gly597=)
c.1643G= (p.Gly548=)
c.1505G= (p.Gly502=)
c.1484G= (p.Gly495=)
c.1640G= (p.Gly547=)
c.1727G= (p.Gly576=)
4g.80202550G>TCA357398154PRDM8c.1088G>T (p.Gly363Val)
c.1091G>T (p.Gly364Val)
c.1931G>T (p.Gly644Val)
c.1928G>T (p.Gly643Val)
c.1790G>T (p.Gly597Val)
c.1643G>T (p.Gly548Val)
c.1505G>T (p.Gly502Val)
c.1484G>T (p.Gly495Val)
c.1640G>T (p.Gly547Val)
c.1727G>T (p.Gly576Val)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.80202551C>ACA440227301PRDM8c.1089C>A (p.Gly363=)
c.1092C>A (p.Gly364=)
c.1932C>A (p.Gly644=)
c.1929C>A (p.Gly643=)
c.1791C>A (p.Gly597=)
c.1644C>A (p.Gly548=)
c.1506C>A (p.Gly502=)
c.1485C>A (p.Gly495=)
c.1641C>A (p.Gly547=)
c.1728C>A (p.Gly576=)
gnomAD v4
4g.80202551C=CA1471293420PRDM8c.1089C= (p.Gly363=)
c.1092C= (p.Gly364=)
c.1932C= (p.Gly644=)
c.1929C= (p.Gly643=)
c.1791C= (p.Gly597=)
c.1644C= (p.Gly548=)
c.1506C= (p.Gly502=)
c.1485C= (p.Gly495=)
c.1641C= (p.Gly547=)
c.1728C= (p.Gly576=)
4g.80202551C>GCA440227302PRDM8c.1089C>G (p.Gly363=)
c.1092C>G (p.Gly364=)
c.1932C>G (p.Gly644=)
c.1929C>G (p.Gly643=)
c.1791C>G (p.Gly597=)
c.1644C>G (p.Gly548=)
c.1506C>G (p.Gly502=)
c.1485C>G (p.Gly495=)
c.1641C>G (p.Gly547=)
c.1728C>G (p.Gly576=)
4g.80202551C>TCA440227304PRDM8c.1089C>T (p.Gly363=)
c.1092C>T (p.Gly364=)
c.1932C>T (p.Gly644=)
c.1929C>T (p.Gly643=)
c.1791C>T (p.Gly597=)
c.1644C>T (p.Gly548=)
c.1506C>T (p.Gly502=)
c.1485C>T (p.Gly495=)
c.1641C>T (p.Gly547=)
c.1728C>T (p.Gly576=)
dbSNP gnomAD v4
4g.80202552C>ACA357398157PRDM8c.1090C>A (p.Leu364Met)
c.1093C>A (p.Leu365Met)
c.1933C>A (p.Leu645Met)
c.1930C>A (p.Leu644Met)
c.1792C>A (p.Leu598Met)
c.1645C>A (p.Leu549Met)
c.1507C>A (p.Leu503Met)
c.1486C>A (p.Leu496Met)
c.1642C>A (p.Leu548Met)
c.1729C>A (p.Leu577Met)
gnomAD v4
4g.80202552C>GCA357398160PRDM8c.1090C>G (p.Leu364Val)
c.1093C>G (p.Leu365Val)
c.1933C>G (p.Leu645Val)
c.1930C>G (p.Leu644Val)
c.1792C>G (p.Leu598Val)
c.1645C>G (p.Leu549Val)
c.1507C>G (p.Leu503Val)
c.1486C>G (p.Leu496Val)
c.1642C>G (p.Leu548Val)
c.1729C>G (p.Leu577Val)
gnomAD v4
4g.80202552C>TCA440227312PRDM8c.1090C>T (p.Leu364=)
c.1093C>T (p.Leu365=)
c.1933C>T (p.Leu645=)
c.1930C>T (p.Leu644=)
c.1792C>T (p.Leu598=)
c.1645C>T (p.Leu549=)
c.1507C>T (p.Leu503=)
c.1486C>T (p.Leu496=)
c.1642C>T (p.Leu548=)
c.1729C>T (p.Leu577=)
4g.80202553T>ACA357398163PRDM8c.1091T>A (p.Leu364Gln)
c.1094T>A (p.Leu365Gln)
c.1934T>A (p.Leu645Gln)
c.1931T>A (p.Leu644Gln)
c.1793T>A (p.Leu598Gln)
c.1646T>A (p.Leu549Gln)
c.1508T>A (p.Leu503Gln)
c.1487T>A (p.Leu496Gln)
c.1643T>A (p.Leu548Gln)
c.1730T>A (p.Leu577Gln)
4g.80202553T>CCA357398176PRDM8c.1091T>C (p.Leu364Pro)
c.1094T>C (p.Leu365Pro)
c.1934T>C (p.Leu645Pro)
c.1931T>C (p.Leu644Pro)
c.1793T>C (p.Leu598Pro)
c.1646T>C (p.Leu549Pro)
c.1508T>C (p.Leu503Pro)
c.1487T>C (p.Leu496Pro)
c.1643T>C (p.Leu548Pro)
c.1730T>C (p.Leu577Pro)
gnomAD v4
4g.80202553T>GCA357398179PRDM8c.1091T>G (p.Leu364Arg)
c.1094T>G (p.Leu365Arg)
c.1934T>G (p.Leu645Arg)
c.1931T>G (p.Leu644Arg)
c.1793T>G (p.Leu598Arg)
c.1646T>G (p.Leu549Arg)
c.1508T>G (p.Leu503Arg)
c.1487T>G (p.Leu496Arg)
c.1643T>G (p.Leu548Arg)
c.1730T>G (p.Leu577Arg)
4g.80202554G>ACA440227322PRDM8c.1092G>A (p.Leu364=)
c.1095G>A (p.Leu365=)
c.1935G>A (p.Leu645=)
c.1932G>A (p.Leu644=)
c.1794G>A (p.Leu598=)
c.1647G>A (p.Leu549=)
c.1509G>A (p.Leu503=)
c.1488G>A (p.Leu496=)
c.1644G>A (p.Leu548=)
c.1731G>A (p.Leu577=)
4g.80202554G>CCA440227323PRDM8c.1092G>C (p.Leu364=)
c.1095G>C (p.Leu365=)
c.1935G>C (p.Leu645=)
c.1932G>C (p.Leu644=)
c.1794G>C (p.Leu598=)
c.1647G>C (p.Leu549=)
c.1509G>C (p.Leu503=)
c.1488G>C (p.Leu496=)
c.1644G>C (p.Leu548=)
c.1731G>C (p.Leu577=)
dbSNP gnomAD v3 gnomAD v4
4g.80202554G=CA1471293424PRDM8c.1092G= (p.Leu364=)
c.1095G= (p.Leu365=)
c.1935G= (p.Leu645=)
c.1932G= (p.Leu644=)
c.1794G= (p.Leu598=)
c.1647G= (p.Leu549=)
c.1509G= (p.Leu503=)
c.1488G= (p.Leu496=)
c.1644G= (p.Leu548=)
c.1731G= (p.Leu577=)
4g.80202554G>TCA440227325PRDM8c.1092G>T (p.Leu364=)
c.1095G>T (p.Leu365=)
c.1935G>T (p.Leu645=)
c.1932G>T (p.Leu644=)
c.1794G>T (p.Leu598=)
c.1647G>T (p.Leu549=)
c.1509G>T (p.Leu503=)
c.1488G>T (p.Leu496=)
c.1644G>T (p.Leu548=)
c.1731G>T (p.Leu577=)
gnomAD v4
4g.80202555G>ACA357398182PRDM8c.1093G>A (p.Glu365Lys)
c.1096G>A (p.Glu366Lys)
c.1936G>A (p.Glu646Lys)
c.1933G>A (p.Glu645Lys)
c.1795G>A (p.Glu599Lys)
c.1648G>A (p.Glu550Lys)
c.1510G>A (p.Glu504Lys)
c.1489G>A (p.Glu497Lys)
c.1645G>A (p.Glu549Lys)
c.1732G>A (p.Glu578Lys)
4g.80202555G>CCA357398188PRDM8c.1093G>C (p.Glu365Gln)
c.1096G>C (p.Glu366Gln)
c.1936G>C (p.Glu646Gln)
c.1933G>C (p.Glu645Gln)
c.1795G>C (p.Glu599Gln)
c.1648G>C (p.Glu550Gln)
c.1510G>C (p.Glu504Gln)
c.1489G>C (p.Glu497Gln)
c.1645G>C (p.Glu549Gln)
c.1732G>C (p.Glu578Gln)
4g.80202555G>TCA357398192PRDM8c.1093G>T (p.Glu365Ter)
c.1096G>T (p.Glu366Ter)
c.1936G>T (p.Glu646Ter)
c.1933G>T (p.Glu645Ter)
c.1795G>T (p.Glu599Ter)
c.1648G>T (p.Glu550Ter)
c.1510G>T (p.Glu504Ter)
c.1489G>T (p.Glu497Ter)
c.1645G>T (p.Glu549Ter)
c.1732G>T (p.Glu578Ter)
gnomAD v4
4g.80202556A>CCA357398199PRDM8c.1094A>C (p.Glu365Ala)
c.1097A>C (p.Glu366Ala)
c.1937A>C (p.Glu646Ala)
c.1934A>C (p.Glu645Ala)
c.1796A>C (p.Glu599Ala)
c.1649A>C (p.Glu550Ala)
c.1511A>C (p.Glu504Ala)
c.1490A>C (p.Glu497Ala)
c.1646A>C (p.Glu549Ala)
c.1733A>C (p.Glu578Ala)
4g.80202556A>GCA357398200PRDM8c.1094A>G (p.Glu365Gly)
c.1097A>G (p.Glu366Gly)
c.1937A>G (p.Glu646Gly)
c.1934A>G (p.Glu645Gly)
c.1796A>G (p.Glu599Gly)
c.1649A>G (p.Glu550Gly)
c.1511A>G (p.Glu504Gly)
c.1490A>G (p.Glu497Gly)
c.1646A>G (p.Glu549Gly)
c.1733A>G (p.Glu578Gly)
gnomAD v4
4g.80202556A>TCA357398203PRDM8c.1094A>T (p.Glu365Val)
c.1097A>T (p.Glu366Val)
c.1937A>T (p.Glu646Val)
c.1934A>T (p.Glu645Val)
c.1796A>T (p.Glu599Val)
c.1649A>T (p.Glu550Val)
c.1511A>T (p.Glu504Val)
c.1490A>T (p.Glu497Val)
c.1646A>T (p.Glu549Val)
c.1733A>T (p.Glu578Val)
4g.80202557A=CA1471293425PRDM8c.1095A= (p.Glu365=)
c.1098A= (p.Glu366=)
c.1938A= (p.Glu646=)
c.1935A= (p.Glu645=)
c.1797A= (p.Glu599=)
c.1650A= (p.Glu550=)
c.1512A= (p.Glu504=)
c.1491A= (p.Glu497=)
c.1647A= (p.Glu549=)
c.1734A= (p.Glu578=)
4g.80202557A>CCA357398207PRDM8c.1095A>C (p.Glu365Asp)
c.1098A>C (p.Glu366Asp)
c.1938A>C (p.Glu646Asp)
c.1935A>C (p.Glu645Asp)
c.1797A>C (p.Glu599Asp)
c.1650A>C (p.Glu550Asp)
c.1512A>C (p.Glu504Asp)
c.1491A>C (p.Glu497Asp)
c.1647A>C (p.Glu549Asp)
c.1734A>C (p.Glu578Asp)
4g.80202557A>GCA2982375PRDM8c.1095A>G (p.Glu365=)
c.1098A>G (p.Glu366=)
c.1938A>G (p.Glu646=)
c.1935A>G (p.Glu645=)
c.1797A>G (p.Glu599=)
c.1650A>G (p.Glu550=)
c.1512A>G (p.Glu504=)
c.1491A>G (p.Glu497=)
c.1647A>G (p.Glu549=)
c.1734A>G (p.Glu578=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.80202557A>TCA357398214PRDM8c.1095A>T (p.Glu365Asp)
c.1098A>T (p.Glu366Asp)
c.1938A>T (p.Glu646Asp)
c.1935A>T (p.Glu645Asp)
c.1797A>T (p.Glu599Asp)
c.1650A>T (p.Glu550Asp)
c.1512A>T (p.Glu504Asp)
c.1491A>T (p.Glu497Asp)
c.1647A>T (p.Glu549Asp)
c.1734A>T (p.Glu578Asp)
4g.80202558delCA2578127015PRDM8c.1096del (p.Glu366ArgfsTer24)
c.1099del (p.Glu367ArgfsTer24)
c.1939del (p.Glu647ArgfsTer24)
c.1936del (p.Glu646ArgfsTer24)
c.1798del (p.Glu600ArgfsTer24)
c.1651del (p.Glu551ArgfsTer24)
c.1513del (p.Glu505ArgfsTer24)
c.1492del (p.Glu498ArgfsTer24)
c.1648del (p.Glu550ArgfsTer24)
c.1735del (p.Glu579ArgfsTer24)
4g.80202558G>ACA357398217PRDM8c.1096G>A (p.Glu366Lys)
c.1099G>A (p.Glu367Lys)
c.1939G>A (p.Glu647Lys)
c.1936G>A (p.Glu646Lys)
c.1798G>A (p.Glu600Lys)
c.1651G>A (p.Glu551Lys)
c.1513G>A (p.Glu505Lys)
c.1492G>A (p.Glu498Lys)
c.1648G>A (p.Glu550Lys)
c.1735G>A (p.Glu579Lys)
gnomAD v4
4g.80202558G>CCA357398220PRDM8c.1096G>C (p.Glu366Gln)
c.1099G>C (p.Glu367Gln)
c.1939G>C (p.Glu647Gln)
c.1936G>C (p.Glu646Gln)
c.1798G>C (p.Glu600Gln)
c.1651G>C (p.Glu551Gln)
c.1513G>C (p.Glu505Gln)
c.1492G>C (p.Glu498Gln)
c.1648G>C (p.Glu550Gln)
c.1735G>C (p.Glu579Gln)
4g.80202558G>TCA357398219PRDM8c.1096G>T (p.Glu366Ter)
c.1099G>T (p.Glu367Ter)
c.1939G>T (p.Glu647Ter)
c.1936G>T (p.Glu646Ter)
c.1798G>T (p.Glu600Ter)
c.1651G>T (p.Glu551Ter)
c.1513G>T (p.Glu505Ter)
c.1492G>T (p.Glu498Ter)
c.1648G>T (p.Glu550Ter)
c.1735G>T (p.Glu579Ter)
4g.80202559A>CCA357398223PRDM8c.1097A>C (p.Glu366Ala)
c.1100A>C (p.Glu367Ala)
c.1940A>C (p.Glu647Ala)
c.1937A>C (p.Glu646Ala)
c.1799A>C (p.Glu600Ala)
c.1652A>C (p.Glu551Ala)
c.1514A>C (p.Glu505Ala)
c.1493A>C (p.Glu498Ala)
c.1649A>C (p.Glu550Ala)
c.1736A>C (p.Glu579Ala)
4g.80202559A>GCA357398227PRDM8c.1097A>G (p.Glu366Gly)
c.1100A>G (p.Glu367Gly)
c.1940A>G (p.Glu647Gly)
c.1937A>G (p.Glu646Gly)
c.1799A>G (p.Glu600Gly)
c.1652A>G (p.Glu551Gly)
c.1514A>G (p.Glu505Gly)
c.1493A>G (p.Glu498Gly)
c.1649A>G (p.Glu550Gly)
c.1736A>G (p.Glu579Gly)
4g.80202559A>TCA357398225PRDM8c.1097A>T (p.Glu366Val)
c.1100A>T (p.Glu367Val)
c.1940A>T (p.Glu647Val)
c.1937A>T (p.Glu646Val)
c.1799A>T (p.Glu600Val)
c.1652A>T (p.Glu551Val)
c.1514A>T (p.Glu505Val)
c.1493A>T (p.Glu498Val)
c.1649A>T (p.Glu550Val)
c.1736A>T (p.Glu579Val)
4g.80202560G>ACA440227358PRDM8c.1098G>A (p.Glu366=)
c.1101G>A (p.Glu367=)
c.1941G>A (p.Glu647=)
c.1938G>A (p.Glu646=)
c.1800G>A (p.Glu600=)
c.1653G>A (p.Glu551=)
c.1515G>A (p.Glu505=)
c.1494G>A (p.Glu498=)
c.1650G>A (p.Glu550=)
c.1737G>A (p.Glu579=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.80202560G>CCA357398234PRDM8c.1098G>C (p.Glu366Asp)
c.1101G>C (p.Glu367Asp)
c.1941G>C (p.Glu647Asp)
c.1938G>C (p.Glu646Asp)
c.1800G>C (p.Glu600Asp)
c.1653G>C (p.Glu551Asp)
c.1515G>C (p.Glu505Asp)
c.1494G>C (p.Glu498Asp)
c.1650G>C (p.Glu550Asp)
c.1737G>C (p.Glu579Asp)
4g.80202560G=CA1471293427PRDM8c.1098G= (p.Glu366=)
c.1101G= (p.Glu367=)
c.1941G= (p.Glu647=)
c.1938G= (p.Glu646=)
c.1800G= (p.Glu600=)
c.1653G= (p.Glu551=)
c.1515G= (p.Glu505=)
c.1494G= (p.Glu498=)
c.1650G= (p.Glu550=)
c.1737G= (p.Glu579=)
4g.80202560G>TCA357398238PRDM8c.1098G>T (p.Glu366Asp)
c.1101G>T (p.Glu367Asp)
c.1941G>T (p.Glu647Asp)
c.1938G>T (p.Glu646Asp)
c.1800G>T (p.Glu600Asp)
c.1653G>T (p.Glu551Asp)
c.1515G>T (p.Glu505Asp)
c.1494G>T (p.Glu498Asp)
c.1650G>T (p.Glu550Asp)
c.1737G>T (p.Glu579Asp)
gnomAD v4
4g.80202561A>CCA357398242PRDM8c.1099A>C (p.Asn367His)
c.1102A>C (p.Asn368His)
c.1942A>C (p.Asn648His)
c.1939A>C (p.Asn647His)
c.1801A>C (p.Asn601His)
c.1654A>C (p.Asn552His)
c.1516A>C (p.Asn506His)
c.1495A>C (p.Asn499His)
c.1651A>C (p.Asn551His)
c.1738A>C (p.Asn580His)
4g.80202561A>GCA357398245PRDM8c.1099A>G (p.Asn367Asp)
c.1102A>G (p.Asn368Asp)
c.1942A>G (p.Asn648Asp)
c.1939A>G (p.Asn647Asp)
c.1801A>G (p.Asn601Asp)
c.1654A>G (p.Asn552Asp)
c.1516A>G (p.Asn506Asp)
c.1495A>G (p.Asn499Asp)
c.1651A>G (p.Asn551Asp)
c.1738A>G (p.Asn580Asp)
4g.80202561A>TCA357398249PRDM8c.1099A>T (p.Asn367Tyr)
c.1102A>T (p.Asn368Tyr)
c.1942A>T (p.Asn648Tyr)
c.1939A>T (p.Asn647Tyr)
c.1801A>T (p.Asn601Tyr)
c.1654A>T (p.Asn552Tyr)
c.1516A>T (p.Asn506Tyr)
c.1495A>T (p.Asn499Tyr)
c.1651A>T (p.Asn551Tyr)
c.1738A>T (p.Asn580Tyr)
4g.80202562A>CCA357398251PRDM8c.1100A>C (p.Asn367Thr)
c.1103A>C (p.Asn368Thr)
c.1943A>C (p.Asn648Thr)
c.1940A>C (p.Asn647Thr)
c.1802A>C (p.Asn601Thr)
c.1655A>C (p.Asn552Thr)
c.1517A>C (p.Asn506Thr)
c.1496A>C (p.Asn499Thr)
c.1652A>C (p.Asn551Thr)
c.1739A>C (p.Asn580Thr)
gnomAD v4
4g.80202562A>GCA357398253PRDM8c.1100A>G (p.Asn367Ser)
c.1103A>G (p.Asn368Ser)
c.1943A>G (p.Asn648Ser)
c.1940A>G (p.Asn647Ser)
c.1802A>G (p.Asn601Ser)
c.1655A>G (p.Asn552Ser)
c.1517A>G (p.Asn506Ser)
c.1496A>G (p.Asn499Ser)
c.1652A>G (p.Asn551Ser)
c.1739A>G (p.Asn580Ser)
gnomAD v4
4g.80202562A>TCA357398255PRDM8c.1100A>T (p.Asn367Ile)
c.1103A>T (p.Asn368Ile)
c.1943A>T (p.Asn648Ile)
c.1940A>T (p.Asn647Ile)
c.1802A>T (p.Asn601Ile)
c.1655A>T (p.Asn552Ile)
c.1517A>T (p.Asn506Ile)
c.1496A>T (p.Asn499Ile)
c.1652A>T (p.Asn551Ile)
c.1739A>T (p.Asn580Ile)
4g.80202563C>ACA357398260PRDM8c.1101C>A (p.Asn367Lys)
c.1104C>A (p.Asn368Lys)
c.1944C>A (p.Asn648Lys)
c.1941C>A (p.Asn647Lys)
c.1803C>A (p.Asn601Lys)
c.1656C>A (p.Asn552Lys)
c.1518C>A (p.Asn506Lys)
c.1497C>A (p.Asn499Lys)
c.1653C>A (p.Asn551Lys)
c.1740C>A (p.Asn580Lys)
gnomAD v4
4g.80202563C=CA1471293428PRDM8c.1101C= (p.Asn367=)
c.1104C= (p.Asn368=)
c.1944C= (p.Asn648=)
c.1941C= (p.Asn647=)
c.1803C= (p.Asn601=)
c.1656C= (p.Asn552=)
c.1518C= (p.Asn506=)
c.1497C= (p.Asn499=)
c.1653C= (p.Asn551=)
c.1740C= (p.Asn580=)
4g.80202563C>GCA357398263PRDM8c.1101C>G (p.Asn367Lys)
c.1104C>G (p.Asn368Lys)
c.1944C>G (p.Asn648Lys)
c.1941C>G (p.Asn647Lys)
c.1803C>G (p.Asn601Lys)
c.1656C>G (p.Asn552Lys)
c.1518C>G (p.Asn506Lys)
c.1497C>G (p.Asn499Lys)
c.1653C>G (p.Asn551Lys)
c.1740C>G (p.Asn580Lys)
4g.80202563C>TCA440227372PRDM8c.1101C>T (p.Asn367=)
c.1104C>T (p.Asn368=)
c.1944C>T (p.Asn648=)
c.1941C>T (p.Asn647=)
c.1803C>T (p.Asn601=)
c.1656C>T (p.Asn552=)
c.1518C>T (p.Asn506=)
c.1497C>T (p.Asn499=)
c.1653C>T (p.Asn551=)
c.1740C>T (p.Asn580=)
dbSNP gnomAD v4
4g.80202564G>ACA357398267PRDM8c.1102G>A (p.Gly368Ser)
c.1105G>A (p.Gly369Ser)
c.1945G>A (p.Gly649Ser)
c.1942G>A (p.Gly648Ser)
c.1804G>A (p.Gly602Ser)
c.1657G>A (p.Gly553Ser)
c.1519G>A (p.Gly507Ser)
c.1498G>A (p.Gly500Ser)
c.1654G>A (p.Gly552Ser)
c.1741G>A (p.Gly581Ser)
dbSNP gnomAD v3 gnomAD v4
4g.80202564G>CCA357398270PRDM8c.1102G>C (p.Gly368Arg)
c.1105G>C (p.Gly369Arg)
c.1945G>C (p.Gly649Arg)
c.1942G>C (p.Gly648Arg)
c.1804G>C (p.Gly602Arg)
c.1657G>C (p.Gly553Arg)
c.1519G>C (p.Gly507Arg)
c.1498G>C (p.Gly500Arg)
c.1654G>C (p.Gly552Arg)
c.1741G>C (p.Gly581Arg)
4g.80202564G=CA1471293432PRDM8c.1102G= (p.Gly368=)
c.1105G= (p.Gly369=)
c.1945G= (p.Gly649=)
c.1942G= (p.Gly648=)
c.1804G= (p.Gly602=)
c.1657G= (p.Gly553=)
c.1519G= (p.Gly507=)
c.1498G= (p.Gly500=)
c.1654G= (p.Gly552=)
c.1741G= (p.Gly581=)
4g.80202564G>TCA357398271PRDM8c.1102G>T (p.Gly368Cys)
c.1105G>T (p.Gly369Cys)
c.1945G>T (p.Gly649Cys)
c.1942G>T (p.Gly648Cys)
c.1804G>T (p.Gly602Cys)
c.1657G>T (p.Gly553Cys)
c.1519G>T (p.Gly507Cys)
c.1498G>T (p.Gly500Cys)
c.1654G>T (p.Gly552Cys)
c.1741G>T (p.Gly581Cys)
dbSNP
4g.80202565G>ACA357398272PRDM8c.1103G>A (p.Gly368Asp)
c.1106G>A (p.Gly369Asp)
c.1946G>A (p.Gly649Asp)
c.1943G>A (p.Gly648Asp)
c.1805G>A (p.Gly602Asp)
c.1658G>A (p.Gly553Asp)
c.1520G>A (p.Gly507Asp)
c.1499G>A (p.Gly500Asp)
c.1655G>A (p.Gly552Asp)
c.1742G>A (p.Gly581Asp)
gnomAD v4 COSMIC
4g.80202565G>CCA357398274PRDM8c.1103G>C (p.Gly368Ala)
c.1106G>C (p.Gly369Ala)
c.1946G>C (p.Gly649Ala)
c.1943G>C (p.Gly648Ala)
c.1805G>C (p.Gly602Ala)
c.1658G>C (p.Gly553Ala)
c.1520G>C (p.Gly507Ala)
c.1499G>C (p.Gly500Ala)
c.1655G>C (p.Gly552Ala)
c.1742G>C (p.Gly581Ala)
dbSNP
4g.80202565G>TCA357398273PRDM8c.1103G>T (p.Gly368Val)
c.1106G>T (p.Gly369Val)
c.1946G>T (p.Gly649Val)
c.1943G>T (p.Gly648Val)
c.1805G>T (p.Gly602Val)
c.1658G>T (p.Gly553Val)
c.1520G>T (p.Gly507Val)
c.1499G>T (p.Gly500Val)
c.1655G>T (p.Gly552Val)
c.1742G>T (p.Gly581Val)
4g.80202566C>ACA440227378PRDM8c.1104C>A (p.Gly368=)
c.1107C>A (p.Gly369=)
c.1947C>A (p.Gly649=)
c.1944C>A (p.Gly648=)
c.1806C>A (p.Gly602=)
c.1659C>A (p.Gly553=)
c.1521C>A (p.Gly507=)
c.1500C>A (p.Gly500=)
c.1656C>A (p.Gly552=)
c.1743C>A (p.Gly581=)
gnomAD v4
4g.80202566C=CA1471293436PRDM8c.1104C= (p.Gly368=)
c.1107C= (p.Gly369=)
c.1947C= (p.Gly649=)
c.1944C= (p.Gly648=)
c.1806C= (p.Gly602=)
c.1659C= (p.Gly553=)
c.1521C= (p.Gly507=)
c.1500C= (p.Gly500=)
c.1656C= (p.Gly552=)
c.1743C= (p.Gly581=)
4g.80202566C>GCA440227380PRDM8c.1104C>G (p.Gly368=)
c.1107C>G (p.Gly369=)
c.1947C>G (p.Gly649=)
c.1944C>G (p.Gly648=)
c.1806C>G (p.Gly602=)
c.1659C>G (p.Gly553=)
c.1521C>G (p.Gly507=)
c.1500C>G (p.Gly500=)
c.1656C>G (p.Gly552=)
c.1743C>G (p.Gly581=)
4g.80202566C>TCA440227383PRDM8c.1104C>T (p.Gly368=)
c.1107C>T (p.Gly369=)
c.1947C>T (p.Gly649=)
c.1944C>T (p.Gly648=)
c.1806C>T (p.Gly602=)
c.1659C>T (p.Gly553=)
c.1521C>T (p.Gly507=)
c.1500C>T (p.Gly500=)
c.1656C>T (p.Gly552=)
c.1743C>T (p.Gly581=)
ClinVar dbSNP gnomAD v4
4g.80202567C>ACA357398277PRDM8c.1105C>A (p.Arg369Ser)
c.1108C>A (p.Arg370Ser)
c.1948C>A (p.Arg650Ser)
c.1945C>A (p.Arg649Ser)
c.1807C>A (p.Arg603Ser)
c.1660C>A (p.Arg554Ser)
c.1522C>A (p.Arg508Ser)
c.1501C>A (p.Arg501Ser)
c.1657C>A (p.Arg553Ser)
c.1744C>A (p.Arg582Ser)
gnomAD v4
4g.80202567C=CA1471293437PRDM8c.1105C= (p.Arg369=)
c.1108C= (p.Arg370=)
c.1948C= (p.Arg650=)
c.1945C= (p.Arg649=)
c.1807C= (p.Arg603=)
c.1660C= (p.Arg554=)
c.1522C= (p.Arg508=)
c.1501C= (p.Arg501=)
c.1657C= (p.Arg553=)
c.1744C= (p.Arg582=)
4g.80202567C>GCA357398278PRDM8c.1105C>G (p.Arg369Gly)
c.1108C>G (p.Arg370Gly)
c.1948C>G (p.Arg650Gly)
c.1945C>G (p.Arg649Gly)
c.1807C>G (p.Arg603Gly)
c.1660C>G (p.Arg554Gly)
c.1522C>G (p.Arg508Gly)
c.1501C>G (p.Arg501Gly)
c.1657C>G (p.Arg553Gly)
c.1744C>G (p.Arg582Gly)
4g.80202567C>TCA357398280PRDM8c.1105C>T (p.Arg369Cys)
c.1108C>T (p.Arg370Cys)
c.1948C>T (p.Arg650Cys)
c.1945C>T (p.Arg649Cys)
c.1807C>T (p.Arg603Cys)
c.1660C>T (p.Arg554Cys)
c.1522C>T (p.Arg508Cys)
c.1501C>T (p.Arg501Cys)
c.1657C>T (p.Arg553Cys)
c.1744C>T (p.Arg582Cys)
dbSNP gnomAD v4
4g.80202568G>ACA357398283PRDM8c.1106G>A (p.Arg369His)
c.1109G>A (p.Arg370His)
c.1949G>A (p.Arg650His)
c.1946G>A (p.Arg649His)
c.1808G>A (p.Arg603His)
c.1661G>A (p.Arg554His)
c.1523G>A (p.Arg508His)
c.1502G>A (p.Arg501His)
c.1658G>A (p.Arg553His)
c.1745G>A (p.Arg582His)
gnomAD v4
4g.80202568G>CCA357398288PRDM8c.1106G>C (p.Arg369Pro)
c.1109G>C (p.Arg370Pro)
c.1949G>C (p.Arg650Pro)
c.1946G>C (p.Arg649Pro)
c.1808G>C (p.Arg603Pro)
c.1661G>C (p.Arg554Pro)
c.1523G>C (p.Arg508Pro)
c.1502G>C (p.Arg501Pro)
c.1658G>C (p.Arg553Pro)
c.1745G>C (p.Arg582Pro)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.80202568G=CA1471293438PRDM8c.1106G= (p.Arg369=)
c.1109G= (p.Arg370=)
c.1949G= (p.Arg650=)
c.1946G= (p.Arg649=)
c.1808G= (p.Arg603=)
c.1661G= (p.Arg554=)
c.1523G= (p.Arg508=)
c.1502G= (p.Arg501=)
c.1658G= (p.Arg553=)
c.1745G= (p.Arg582=)
4g.80202568G>TCA357398291PRDM8c.1106G>T (p.Arg369Leu)
c.1109G>T (p.Arg370Leu)
c.1949G>T (p.Arg650Leu)
c.1946G>T (p.Arg649Leu)
c.1808G>T (p.Arg603Leu)
c.1661G>T (p.Arg554Leu)
c.1523G>T (p.Arg508Leu)
c.1502G>T (p.Arg501Leu)
c.1658G>T (p.Arg553Leu)
c.1745G>T (p.Arg582Leu)
gnomAD v4
4g.80202569C>ACA440227389PRDM8c.1107C>A (p.Arg369=)
c.1110C>A (p.Arg370=)
c.1950C>A (p.Arg650=)
c.1947C>A (p.Arg649=)
c.1809C>A (p.Arg603=)
c.1662C>A (p.Arg554=)
c.1524C>A (p.Arg508=)
c.1503C>A (p.Arg501=)
c.1659C>A (p.Arg553=)
c.1746C>A (p.Arg582=)
gnomAD v4
4g.80202569C>GCA440227392PRDM8c.1107C>G (p.Arg369=)
c.1110C>G (p.Arg370=)
c.1950C>G (p.Arg650=)
c.1947C>G (p.Arg649=)
c.1809C>G (p.Arg603=)
c.1662C>G (p.Arg554=)
c.1524C>G (p.Arg508=)
c.1503C>G (p.Arg501=)
c.1659C>G (p.Arg553=)
c.1746C>G (p.Arg582=)
4g.80202569C>TCA440227397PRDM8c.1107C>T (p.Arg369=)
c.1110C>T (p.Arg370=)
c.1950C>T (p.Arg650=)
c.1947C>T (p.Arg649=)
c.1809C>T (p.Arg603=)
c.1662C>T (p.Arg554=)
c.1524C>T (p.Arg508=)
c.1503C>T (p.Arg501=)
c.1659C>T (p.Arg553=)
c.1746C>T (p.Arg582=)
4g.80202570C>ACA357398295PRDM8c.1108C>A (p.Leu370Ile)
c.1111C>A (p.Leu371Ile)
c.1951C>A (p.Leu651Ile)
c.1948C>A (p.Leu650Ile)
c.1810C>A (p.Leu604Ile)
c.1663C>A (p.Leu555Ile)
c.1525C>A (p.Leu509Ile)
c.1504C>A (p.Leu502Ile)
c.1660C>A (p.Leu554Ile)
c.1747C>A (p.Leu583Ile)
4g.80202570C>GCA357398296PRDM8c.1108C>G (p.Leu370Val)
c.1111C>G (p.Leu371Val)
c.1951C>G (p.Leu651Val)
c.1948C>G (p.Leu650Val)
c.1810C>G (p.Leu604Val)
c.1663C>G (p.Leu555Val)
c.1525C>G (p.Leu509Val)
c.1504C>G (p.Leu502Val)
c.1660C>G (p.Leu554Val)
c.1747C>G (p.Leu583Val)
4g.80202570C>TCA357398299PRDM8c.1108C>T (p.Leu370Phe)
c.1111C>T (p.Leu371Phe)
c.1951C>T (p.Leu651Phe)
c.1948C>T (p.Leu650Phe)
c.1810C>T (p.Leu604Phe)
c.1663C>T (p.Leu555Phe)
c.1525C>T (p.Leu509Phe)
c.1504C>T (p.Leu502Phe)
c.1660C>T (p.Leu554Phe)
c.1747C>T (p.Leu583Phe)
4g.80202571T>ACA357398304PRDM8c.1109T>A (p.Leu370His)
c.1112T>A (p.Leu371His)
c.1952T>A (p.Leu651His)
c.1949T>A (p.Leu650His)
c.1811T>A (p.Leu604His)
c.1664T>A (p.Leu555His)
c.1526T>A (p.Leu509His)
c.1505T>A (p.Leu502His)
c.1661T>A (p.Leu554His)
c.1748T>A (p.Leu583His)
4g.80202571T>CCA357398303PRDM8c.1109T>C (p.Leu370Pro)
c.1112T>C (p.Leu371Pro)
c.1952T>C (p.Leu651Pro)
c.1949T>C (p.Leu650Pro)
c.1811T>C (p.Leu604Pro)
c.1664T>C (p.Leu555Pro)
c.1526T>C (p.Leu509Pro)
c.1505T>C (p.Leu502Pro)
c.1661T>C (p.Leu554Pro)
c.1748T>C (p.Leu583Pro)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.80202571T>GCA357398301PRDM8c.1109T>G (p.Leu370Arg)
c.1112T>G (p.Leu371Arg)
c.1952T>G (p.Leu651Arg)
c.1949T>G (p.Leu650Arg)
c.1811T>G (p.Leu604Arg)
c.1664T>G (p.Leu555Arg)
c.1526T>G (p.Leu509Arg)
c.1505T>G (p.Leu502Arg)
c.1661T>G (p.Leu554Arg)
c.1748T>G (p.Leu583Arg)
4g.80202571T=CA1471293442PRDM8c.1109T= (p.Leu370=)
c.1112T= (p.Leu371=)
c.1952T= (p.Leu651=)
c.1949T= (p.Leu650=)
c.1811T= (p.Leu604=)
c.1664T= (p.Leu555=)
c.1526T= (p.Leu509=)
c.1505T= (p.Leu502=)
c.1661T= (p.Leu554=)
c.1748T= (p.Leu583=)
4g.80202571dupCA645526565PRDM8c.1109dup (p.Phe371LeufsTer?)
c.1112dup (p.Phe372LeufsTer?)
c.1952dup (p.Phe652LeufsTer?)
c.1949dup (p.Phe651LeufsTer?)
c.1811dup (p.Phe605LeufsTer?)
c.1664dup (p.Phe556LeufsTer?)
c.1526dup (p.Phe510LeufsTer?)
c.1505dup (p.Phe503LeufsTer?)
c.1661dup (p.Phe555LeufsTer?)
c.1748dup (p.Phe584LeufsTer?)
COSMIC
4g.80202572C>ACA440227402PRDM8c.1110C>A (p.Leu370=)
c.1113C>A (p.Leu371=)
c.1953C>A (p.Leu651=)
c.1950C>A (p.Leu650=)
c.1812C>A (p.Leu604=)
c.1665C>A (p.Leu555=)
c.1527C>A (p.Leu509=)
c.1506C>A (p.Leu502=)
c.1662C>A (p.Leu554=)
c.1749C>A (p.Leu583=)
4g.80202572C>GCA440227404PRDM8c.1110C>G (p.Leu370=)
c.1113C>G (p.Leu371=)
c.1953C>G (p.Leu651=)
c.1950C>G (p.Leu650=)
c.1812C>G (p.Leu604=)
c.1665C>G (p.Leu555=)
c.1527C>G (p.Leu509=)
c.1506C>G (p.Leu502=)
c.1662C>G (p.Leu554=)
c.1749C>G (p.Leu583=)
4g.80202572C>TCA440227406PRDM8c.1110C>T (p.Leu370=)
c.1113C>T (p.Leu371=)
c.1953C>T (p.Leu651=)
c.1950C>T (p.Leu650=)
c.1812C>T (p.Leu604=)
c.1665C>T (p.Leu555=)
c.1527C>T (p.Leu509=)
c.1506C>T (p.Leu502=)
c.1662C>T (p.Leu554=)
c.1749C>T (p.Leu583=)
4g.80202573T>ACA357398307PRDM8c.1111T>A (p.Phe371Ile)
c.1114T>A (p.Phe372Ile)
c.1954T>A (p.Phe652Ile)
c.1951T>A (p.Phe651Ile)
c.1813T>A (p.Phe605Ile)
c.1666T>A (p.Phe556Ile)
c.1528T>A (p.Phe510Ile)
c.1507T>A (p.Phe503Ile)
c.1663T>A (p.Phe555Ile)
c.1750T>A (p.Phe584Ile)
4g.80202573T>CCA357398309PRDM8c.1111T>C (p.Phe371Leu)
c.1114T>C (p.Phe372Leu)
c.1954T>C (p.Phe652Leu)
c.1951T>C (p.Phe651Leu)
c.1813T>C (p.Phe605Leu)
c.1666T>C (p.Phe556Leu)
c.1528T>C (p.Phe510Leu)
c.1507T>C (p.Phe503Leu)
c.1663T>C (p.Phe555Leu)
c.1750T>C (p.Phe584Leu)
4g.80202573T>GCA357398310PRDM8c.1111T>G (p.Phe371Val)
c.1114T>G (p.Phe372Val)
c.1954T>G (p.Phe652Val)
c.1951T>G (p.Phe651Val)
c.1813T>G (p.Phe605Val)
c.1666T>G (p.Phe556Val)
c.1528T>G (p.Phe510Val)
c.1507T>G (p.Phe503Val)
c.1663T>G (p.Phe555Val)
c.1750T>G (p.Phe584Val)
4g.80202574T>ACA357398314PRDM8c.1112T>A (p.Phe371Tyr)
c.1115T>A (p.Phe372Tyr)
c.1955T>A (p.Phe652Tyr)
c.1952T>A (p.Phe651Tyr)
c.1814T>A (p.Phe605Tyr)
c.1667T>A (p.Phe556Tyr)
c.1529T>A (p.Phe510Tyr)
c.1508T>A (p.Phe503Tyr)
c.1664T>A (p.Phe555Tyr)
c.1751T>A (p.Phe584Tyr)
4g.80202574T>CCA357398318PRDM8c.1112T>C (p.Phe371Ser)
c.1115T>C (p.Phe372Ser)
c.1955T>C (p.Phe652Ser)
c.1952T>C (p.Phe651Ser)
c.1814T>C (p.Phe605Ser)
c.1667T>C (p.Phe556Ser)
c.1529T>C (p.Phe510Ser)
c.1508T>C (p.Phe503Ser)
c.1664T>C (p.Phe555Ser)
c.1751T>C (p.Phe584Ser)
4g.80202574T>GCA357398320PRDM8c.1112T>G (p.Phe371Cys)
c.1115T>G (p.Phe372Cys)
c.1955T>G (p.Phe652Cys)
c.1952T>G (p.Phe651Cys)
c.1814T>G (p.Phe605Cys)
c.1667T>G (p.Phe556Cys)
c.1529T>G (p.Phe510Cys)
c.1508T>G (p.Phe503Cys)
c.1664T>G (p.Phe555Cys)
c.1751T>G (p.Phe584Cys)

Number of alleles fetched