Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.30071344_30071373dupCA2677813957RNF39c.805_834dup (p.Ala278_Leu279insValGluGlyArgGlyGlyArgLeuTrpAla)
c.771+34_771+63dup (n.771+34_771+63dup)
c.1009_1038dup (p.Ala346_Leu347insValGluGlyArgGlyGlyArgLeuTrpAla)
c.975+34_975+63dup (n.975+34_975+63dup)
c.550_579dup (p.Ala193_Leu194insValGluGlyArgGlyGlyArgLeuTrpAla)
 gnomAD v4
6g.30071344_30071373delCA2677813958RNF39c.805_834del (p.Val269_Ala278del)
c.771+34_771+63del (n.771+34_771+63del)
c.1009_1038del (p.Val337_Ala346del)
c.975+34_975+63del (n.975+34_975+63del)
c.550_579del (p.Val184_Ala193del)
 gnomAD v4
6g.30071355_30071386delCA2677813963RNF39c.785_816del (p.Pro262ArgfsTer19)
c.771+14_771+45del (n.771+14_771+45del)
c.989_1020del (p.Pro330ArgfsTer19)
c.975+14_975+45del (n.975+14_975+45del)
c.530_561del (p.Pro177ArgfsTer19)
 gnomAD v4
6g.30071361_30071370dupCA2578557432RNF39c.806_815dup (p.Arg275ProfsTer20)
c.771+35_771+44dup (n.771+35_771+44dup)
c.1010_1019dup (p.Arg343ProfsTer20)
c.975+35_975+44dup (n.975+35_975+44dup)
c.551_560dup (p.Arg190ProfsTer20)
 gnomAD v4
6g.30071361_30071370delCA2677813964RNF39c.806_815del (p.Val269AlafsTer?)
c.771+35_771+44del (n.771+35_771+44del)
c.1010_1019del (p.Val337AlafsTer?)
c.975+35_975+44del (n.975+35_975+44del)
c.551_560del (p.Val184AlafsTer?)
 gnomAD v4
6g.30071361_30071369delCA2578557433RNF39c.803_811del (p.Ala268_Glu270del)
c.771+32_771+40del (n.771+32_771+40del)
c.1007_1015del (p.Ala336_Glu338del)
c.975+32_975+40del (n.975+32_975+40del)
c.548_556del (p.Ala183_Glu185del)
6g.30071371_30071379dupCA2578557434RNF39c.799_807dup (p.Val269_Glu270insTrpAlaVal)
c.771+28_771+36dup (n.771+28_771+36dup)
c.1003_1011dup (p.Val337_Glu338insTrpAlaVal)
c.975+28_975+36dup (n.975+28_975+36dup)
c.544_552dup (p.Val184_Glu185insTrpAlaVal)
 gnomAD v4
6g.30071365C>ACA363053980RNF39c.805G>T (p.Val269Leu)
c.771+34G>T (n.771+34G>T)
c.1009G>T (p.Val337Leu)
c.975+34G>T (n.975+34G>T)
c.550G>T (p.Val184Leu)
 dbSNP gnomAD v4
6g.30071365C=CA1618576699RNF39c.805G= (p.Val269=)
c.771+34G= (n.771+34G=)
c.1009G= (p.Val337=)
c.975+34G= (n.975+34G=)
c.550G= (p.Val184=)
6g.30071365C>GCA363053981RNF39c.805G>C (p.Val269Leu)
c.771+34G>C (n.771+34G>C)
c.1009G>C (p.Val337Leu)
c.975+34G>C (n.975+34G>C)
c.550G>C (p.Val184Leu)
6g.30071365C>TCA3694365RNF39c.805G>A (p.Val269Met)
c.771+34G>A (n.771+34G>A)
c.1009G>A (p.Val337Met)
c.975+34G>A (n.975+34G>A)
c.550G>A (p.Val184Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.30071366G>ACA449767457RNF39c.804C>T (p.Ala268=)
c.771+33C>T (n.771+33C>T)
c.1008C>T (p.Ala336=)
c.975+33C>T (n.975+33C>T)
c.549C>T (p.Ala183=)
 gnomAD v4
6g.30071366G>CCA449767459RNF39c.804C>G (p.Ala268=)
c.771+33C>G (n.771+33C>G)
c.1008C>G (p.Ala336=)
c.975+33C>G (n.975+33C>G)
c.549C>G (p.Ala183=)
6g.30071366G>TCA449767460RNF39c.804C>A (p.Ala268=)
c.771+33C>A (n.771+33C>A)
c.1008C>A (p.Ala336=)
c.975+33C>A (n.975+33C>A)
c.549C>A (p.Ala183=)
 gnomAD v4
6g.30071367G>ACA363053982RNF39c.803C>T (p.Ala268Val)
c.771+32C>T (n.771+32C>T)
c.1007C>T (p.Ala336Val)
c.975+32C>T (n.975+32C>T)
c.548C>T (p.Ala183Val)
 gnomAD v4
6g.30071367G>CCA363053983RNF39c.803C>G (p.Ala268Gly)
c.771+32C>G (n.771+32C>G)
c.1007C>G (p.Ala336Gly)
c.975+32C>G (n.975+32C>G)
c.548C>G (p.Ala183Gly)
6g.30071367G>TCA363053984RNF39c.803C>A (p.Ala268Asp)
c.771+32C>A (n.771+32C>A)
c.1007C>A (p.Ala336Asp)
c.975+32C>A (n.975+32C>A)
c.548C>A (p.Ala183Asp)
 gnomAD v4
6g.30071368C>ACA363053987RNF39c.802G>T (p.Ala268Ser)
c.771+31G>T (n.771+31G>T)
c.1006G>T (p.Ala336Ser)
c.975+31G>T (n.975+31G>T)
c.547G>T (p.Ala183Ser)
 gnomAD v4
6g.30071368C>GCA363053985RNF39c.802G>C (p.Ala268Pro)
c.771+31G>C (n.771+31G>C)
c.1006G>C (p.Ala336Pro)
c.975+31G>C (n.975+31G>C)
c.547G>C (p.Ala183Pro)
6g.30071368C>TCA363053986RNF39c.802G>A (p.Ala268Thr)
c.771+31G>A (n.771+31G>A)
c.1006G>A (p.Ala336Thr)
c.975+31G>A (n.975+31G>A)
c.547G>A (p.Ala183Thr)
 gnomAD v4
6g.30071369C>ACA363053988RNF39c.801G>T (p.Trp267Cys)
c.771+30G>T (n.771+30G>T)
c.1005G>T (p.Trp335Cys)
c.975+30G>T (n.975+30G>T)
c.546G>T (p.Trp182Cys)
6g.30071369C>GCA363053989RNF39c.801G>C (p.Trp267Cys)
c.771+30G>C (n.771+30G>C)
c.1005G>C (p.Trp335Cys)
c.975+30G>C (n.975+30G>C)
c.546G>C (p.Trp182Cys)
6g.30071369C>TCA363053990RNF39c.801G>A (p.Trp267Ter)
c.771+30G>A (n.771+30G>A)
c.1005G>A (p.Trp335Ter)
c.975+30G>A (n.975+30G>A)
c.546G>A (p.Trp182Ter)
 gnomAD v4
6g.30071370C>ACA363053991RNF39c.800G>T (p.Trp267Leu)
c.771+29G>T (n.771+29G>T)
c.1004G>T (p.Trp335Leu)
c.975+29G>T (n.975+29G>T)
c.545G>T (p.Trp182Leu)
 gnomAD v4
6g.30071370C>GCA363053992RNF39c.800G>C (p.Trp267Ser)
c.771+29G>C (n.771+29G>C)
c.1004G>C (p.Trp335Ser)
c.975+29G>C (n.975+29G>C)
c.545G>C (p.Trp182Ser)
6g.30071370C>TCA363053993RNF39c.800G>A (p.Trp267Ter)
c.771+29G>A (n.771+29G>A)
c.1004G>A (p.Trp335Ter)
c.975+29G>A (n.975+29G>A)
c.545G>A (p.Trp182Ter)
 gnomAD v4
6g.30071371A=CA1618576700RNF39c.799T= (p.Trp267=)
c.771+28T= (n.771+28T=)
c.1003T= (p.Trp335=)
c.975+28T= (n.975+28T=)
c.544T= (p.Trp182=)
6g.30071371A>CCA363053994RNF39c.799T>G (p.Trp267Gly)
c.771+28T>G (n.771+28T>G)
c.1003T>G (p.Trp335Gly)
c.975+28T>G (n.975+28T>G)
c.544T>G (p.Trp182Gly)
6g.30071371A>GCA363053996RNF39c.799T>C (p.Trp267Arg)
c.771+28T>C (n.771+28T>C)
c.1003T>C (p.Trp335Arg)
c.975+28T>C (n.975+28T>C)
c.544T>C (p.Trp182Arg)
6g.30071371A>TCA363053995RNF39c.799T>A (p.Trp267Arg)
c.771+28T>A (n.771+28T>A)
c.1003T>A (p.Trp335Arg)
c.975+28T>A (n.975+28T>A)
c.544T>A (p.Trp182Arg)
6g.30071372C>ACA449767465RNF39c.798G>T (p.Val266=)
c.771+27G>T (n.771+27G>T)
c.1002G>T (p.Val334=)
c.975+27G>T (n.975+27G>T)
c.543G>T (p.Val181=)
 gnomAD v4
6g.30071372C>GCA449767466RNF39c.798G>C (p.Val266=)
c.771+27G>C (n.771+27G>C)
c.1002G>C (p.Val334=)
c.975+27G>C (n.975+27G>C)
c.543G>C (p.Val181=)
6g.30071372C>TCA449767467RNF39c.798G>A (p.Val266=)
c.771+27G>A (n.771+27G>A)
c.1002G>A (p.Val334=)
c.975+27G>A (n.975+27G>A)
c.543G>A (p.Val181=)
 gnomAD v4
6g.30071373_30071381dupCA1618576701RNF39c.790_798dup (p.Val266_Trp267insGlyAlaVal)
c.771+19_771+27dup (n.771+19_771+27dup)
c.994_1002dup (p.Val334_Trp335insGlyAlaVal)
c.975+19_975+27dup (n.975+19_975+27dup)
c.535_543dup (p.Val181_Trp182insGlyAlaVal)
 dbSNP
6g.30071373A>CCA363053997RNF39c.797T>G (p.Val266Gly)
c.771+26T>G (n.771+26T>G)
c.1001T>G (p.Val334Gly)
c.975+26T>G (n.975+26T>G)
c.542T>G (p.Val181Gly)
6g.30071373A>GCA363053998RNF39c.797T>C (p.Val266Ala)
c.771+26T>C (n.771+26T>C)
c.1001T>C (p.Val334Ala)
c.975+26T>C (n.975+26T>C)
c.542T>C (p.Val181Ala)
6g.30071373A>TCA363053999RNF39c.797T>A (p.Val266Glu)
c.771+26T>A (n.771+26T>A)
c.1001T>A (p.Val334Glu)
c.975+26T>A (n.975+26T>A)
c.542T>A (p.Val181Glu)
6g.30071374C>ACA363054000RNF39c.796G>T (p.Val266Leu)
c.771+25G>T (n.771+25G>T)
c.1000G>T (p.Val334Leu)
c.975+25G>T (n.975+25G>T)
c.541G>T (p.Val181Leu)
 gnomAD v4
6g.30071374C=CA1618576702RNF39c.796G= (p.Val266=)
c.771+25G= (n.771+25G=)
c.1000G= (p.Val334=)
c.975+25G= (n.975+25G=)
c.541G= (p.Val181=)
6g.30071374C>GCA363054001RNF39c.796G>C (p.Val266Leu)
c.771+25G>C (n.771+25G>C)
c.1000G>C (p.Val334Leu)
c.975+25G>C (n.975+25G>C)
c.541G>C (p.Val181Leu)
 gnomAD v4
6g.30071374C>TCA363054002RNF39c.796G>A (p.Val266Met)
c.771+25G>A (n.771+25G>A)
c.1000G>A (p.Val334Met)
c.975+25G>A (n.975+25G>A)
c.541G>A (p.Val181Met)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.30071375G>ACA449767468RNF39c.795C>T (p.Ala265=)
c.771+24C>T (n.771+24C>T)
c.999C>T (p.Ala333=)
c.975+24C>T (n.975+24C>T)
c.540C>T (p.Ala180=)
 gnomAD v4
6g.30071375G>CCA449767470RNF39c.795C>G (p.Ala265=)
c.771+24C>G (n.771+24C>G)
c.999C>G (p.Ala333=)
c.975+24C>G (n.975+24C>G)
c.540C>G (p.Ala180=)
6g.30071375G>TCA449767472RNF39c.795C>A (p.Ala265=)
c.771+24C>A (n.771+24C>A)
c.999C>A (p.Ala333=)
c.975+24C>A (n.975+24C>A)
c.540C>A (p.Ala180=)
 gnomAD v4
6g.30071376G>ACA363054003RNF39c.794C>T (p.Ala265Val)
c.771+23C>T (n.771+23C>T)
c.998C>T (p.Ala333Val)
c.975+23C>T (n.975+23C>T)
c.539C>T (p.Ala180Val)
 gnomAD v4
6g.30071376G>CCA363054004RNF39c.794C>G (p.Ala265Gly)
c.771+23C>G (n.771+23C>G)
c.998C>G (p.Ala333Gly)
c.975+23C>G (n.975+23C>G)
c.539C>G (p.Ala180Gly)
6g.30071376G>TCA363054005RNF39c.794C>A (p.Ala265Asp)
c.771+23C>A (n.771+23C>A)
c.998C>A (p.Ala333Asp)
c.975+23C>A (n.975+23C>A)
c.539C>A (p.Ala180Asp)
6g.30071377C>ACA363054006RNF39c.793G>T (p.Ala265Ser)
c.771+22G>T (n.771+22G>T)
c.997G>T (p.Ala333Ser)
c.975+22G>T (n.975+22G>T)
c.538G>T (p.Ala180Ser)
 gnomAD v4
6g.30071377C=CA1618576703RNF39c.793G= (p.Ala265=)
c.771+22G= (n.771+22G=)
c.997G= (p.Ala333=)
c.975+22G= (n.975+22G=)
c.538G= (p.Ala180=)
6g.30071377C>GCA363054007RNF39c.793G>C (p.Ala265Pro)
c.771+22G>C (n.771+22G>C)
c.997G>C (p.Ala333Pro)
c.975+22G>C (n.975+22G>C)
c.538G>C (p.Ala180Pro)
6g.30071377C>TCA363054008RNF39c.793G>A (p.Ala265Thr)
c.771+22G>A (n.771+22G>A)
c.997G>A (p.Ala333Thr)
c.975+22G>A (n.975+22G>A)
c.538G>A (p.Ala180Thr)
 dbSNP gnomAD v4
6g.30071381dupCA2677813968RNF39c.793dup (p.Ala265GlyfsTer27)
c.771+22dup (n.771+22dup)
c.997dup (p.Ala333GlyfsTer27)
c.975+22dup (n.975+22dup)
c.538dup (p.Ala180GlyfsTer27)
 gnomAD v4
6g.30071381delCA2677813967RNF39c.793del (p.Ala265ProfsTer?)
c.771+22del (n.771+22del)
c.997del (p.Ala333ProfsTer?)
c.975+22del (n.975+22del)
c.538del (p.Ala180ProfsTer?)
 gnomAD v4
6g.30071378C>ACA449767475RNF39c.792G>T (p.Gly264=)
c.771+21G>T (n.771+21G>T)
c.996G>T (p.Gly332=)
c.975+21G>T (n.975+21G>T)
c.537G>T (p.Gly179=)
6g.30071378C>GCA449767476RNF39c.792G>C (p.Gly264=)
c.771+21G>C (n.771+21G>C)
c.996G>C (p.Gly332=)
c.975+21G>C (n.975+21G>C)
c.537G>C (p.Gly179=)
6g.30071378C>TCA449767477RNF39c.792G>A (p.Gly264=)
c.771+21G>A (n.771+21G>A)
c.996G>A (p.Gly332=)
c.975+21G>A (n.975+21G>A)
c.537G>A (p.Gly179=)
 gnomAD v4
6g.30071379C>ACA363054009RNF39c.791G>T (p.Gly264Val)
c.771+20G>T (n.771+20G>T)
c.995G>T (p.Gly332Val)
c.975+20G>T (n.975+20G>T)
c.536G>T (p.Gly179Val)
 gnomAD v4
6g.30071379C=CA1618576704RNF39c.791G= (p.Gly264=)
c.771+20G= (n.771+20G=)
c.995G= (p.Gly332=)
c.975+20G= (n.975+20G=)
c.536G= (p.Gly179=)
6g.30071379C>GCA363054011RNF39c.791G>C (p.Gly264Ala)
c.771+20G>C (n.771+20G>C)
c.995G>C (p.Gly332Ala)
c.975+20G>C (n.975+20G>C)
c.536G>C (p.Gly179Ala)
 dbSNP gnomAD v4
6g.30071379C>TCA363054010RNF39c.791G>A (p.Gly264Glu)
c.771+20G>A (n.771+20G>A)
c.995G>A (p.Gly332Glu)
c.975+20G>A (n.975+20G>A)
c.536G>A (p.Gly179Glu)
 gnomAD v4
6g.30071380C>ACA363054012RNF39c.790G>T (p.Gly264Trp)
c.771+19G>T (n.771+19G>T)
c.994G>T (p.Gly332Trp)
c.975+19G>T (n.975+19G>T)
c.535G>T (p.Gly179Trp)
 gnomAD v4
6g.30071380C>GCA363054013RNF39c.790G>C (p.Gly264Arg)
c.771+19G>C (n.771+19G>C)
c.994G>C (p.Gly332Arg)
c.975+19G>C (n.975+19G>C)
c.535G>C (p.Gly179Arg)
6g.30071380C>TCA363054014RNF39c.790G>A (p.Gly264Arg)
c.771+19G>A (n.771+19G>A)
c.994G>A (p.Gly332Arg)
c.975+19G>A (n.975+19G>A)
c.535G>A (p.Gly179Arg)
6g.30071381C>ACA3694367RNF39c.789G>T (p.Ala263=)
c.771+18G>T (n.771+18G>T)
c.993G>T (p.Ala331=)
c.975+18G>T (n.975+18G>T)
c.534G>T (p.Ala178=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.30071381C=CA1618576705RNF39c.789G= (p.Ala263=)
c.771+18G= (n.771+18G=)
c.993G= (p.Ala331=)
c.975+18G= (n.975+18G=)
c.534G= (p.Ala178=)
6g.30071381C>GCA136035898RNF39c.789G>C (p.Ala263=)
c.771+18G>C (n.771+18G>C)
c.993G>C (p.Ala331=)
c.975+18G>C (n.975+18G>C)
c.534G>C (p.Ala178=)
 dbSNP gnomAD v2 gnomAD v4
6g.30071381C>TCA3694366RNF39c.789G>A (p.Ala263=)
c.771+18G>A (n.771+18G>A)
c.993G>A (p.Ala331=)
c.975+18G>A (n.975+18G>A)
c.534G>A (p.Ala178=)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.30071382G>ACA363054015RNF39c.788C>T (p.Ala263Val)
c.771+17C>T (n.771+17C>T)
c.992C>T (p.Ala331Val)
c.975+17C>T (n.975+17C>T)
c.533C>T (p.Ala178Val)
 gnomAD v4
6g.30071382G>CCA363054016RNF39c.788C>G (p.Ala263Gly)
c.771+17C>G (n.771+17C>G)
c.992C>G (p.Ala331Gly)
c.975+17C>G (n.975+17C>G)
c.533C>G (p.Ala178Gly)
6g.30071382G>TCA363054017RNF39c.788C>A (p.Ala263Glu)
c.771+17C>A (n.771+17C>A)
c.992C>A (p.Ala331Glu)
c.975+17C>A (n.975+17C>A)
c.533C>A (p.Ala178Glu)
 gnomAD v4
6g.30071383C>ACA363054018RNF39c.787G>T (p.Ala263Ser)
c.771+16G>T (n.771+16G>T)
c.991G>T (p.Ala331Ser)
c.975+16G>T (n.975+16G>T)
c.532G>T (p.Ala178Ser)
 dbSNP gnomAD v3 gnomAD v4
6g.30071383C=CA1618576706RNF39c.787G= (p.Ala263=)
c.771+16G= (n.771+16G=)
c.991G= (p.Ala331=)
c.975+16G= (n.975+16G=)
c.532G= (p.Ala178=)
6g.30071383C>GCA363054019RNF39c.787G>C (p.Ala263Pro)
c.771+16G>C (n.771+16G>C)
c.991G>C (p.Ala331Pro)
c.975+16G>C (n.975+16G>C)
c.532G>C (p.Ala178Pro)
6g.30071383C>TCA363054020RNF39c.787G>A (p.Ala263Thr)
c.771+16G>A (n.771+16G>A)
c.991G>A (p.Ala331Thr)
c.975+16G>A (n.975+16G>A)
c.532G>A (p.Ala178Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.30071384A=CA1618576707RNF39c.786T= (p.Pro262=)
c.771+15T= (n.771+15T=)
c.990T= (p.Pro330=)
c.975+15T= (n.975+15T=)
c.531T= (p.Pro177=)
6g.30071384A>CCA3694369RNF39c.786T>G (p.Pro262=)
c.771+15T>G (n.771+15T>G)
c.990T>G (p.Pro330=)
c.975+15T>G (n.975+15T>G)
c.531T>G (p.Pro177=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.30071384A>GCA449767483RNF39c.786T>C (p.Pro262=)
c.771+15T>C (n.771+15T>C)
c.990T>C (p.Pro330=)
c.975+15T>C (n.975+15T>C)
c.531T>C (p.Pro177=)
 gnomAD v4
6g.30071384A>TCA449767484RNF39c.786T>A (p.Pro262=)
c.771+15T>A (n.771+15T>A)
c.990T>A (p.Pro330=)
c.975+15T>A (n.975+15T>A)
c.531T>A (p.Pro177=)
6g.30071384dupCA3694368RNF39c.786dup (p.Ala263CysfsTer29)
c.771+15dup (n.771+15dup)
c.990dup (p.Ala331CysfsTer29)
c.975+15dup (n.975+15dup)
c.531dup (p.Ala178CysfsTer29)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.30071385G>ACA363054023RNF39c.785C>T (p.Pro262Leu)
c.771+14C>T (n.771+14C>T)
c.989C>T (p.Pro330Leu)
c.975+14C>T (n.975+14C>T)
c.530C>T (p.Pro177Leu)
6g.30071385G>CCA363054021RNF39c.785C>G (p.Pro262Arg)
c.771+14C>G (n.771+14C>G)
c.989C>G (p.Pro330Arg)
c.975+14C>G (n.975+14C>G)
c.530C>G (p.Pro177Arg)
6g.30071385G>TCA363054022RNF39c.785C>A (p.Pro262His)
c.771+14C>A (n.771+14C>A)
c.989C>A (p.Pro330His)
c.975+14C>A (n.975+14C>A)
c.530C>A (p.Pro177His)
 gnomAD v4
6g.30071386G>ACA363054024RNF39c.784C>T (p.Pro262Ser)
c.771+13C>T (n.771+13C>T)
c.988C>T (p.Pro330Ser)
c.975+13C>T (n.975+13C>T)
c.529C>T (p.Pro177Ser)
 gnomAD v4
6g.30071386G>CCA363054025RNF39c.784C>G (p.Pro262Ala)
c.771+13C>G (n.771+13C>G)
c.988C>G (p.Pro330Ala)
c.975+13C>G (n.975+13C>G)
c.529C>G (p.Pro177Ala)
6g.30071386G>TCA363054026RNF39c.784C>A (p.Pro262Thr)
c.771+13C>A (n.771+13C>A)
c.988C>A (p.Pro330Thr)
c.975+13C>A (n.975+13C>A)
c.529C>A (p.Pro177Thr)
 gnomAD v4
6g.30071387G>ACA3694370RNF39c.783C>T (p.Cys261=)
c.771+12C>T (n.771+12C>T)
c.987C>T (p.Cys329=)
c.975+12C>T (n.975+12C>T)
c.528C>T (p.Cys176=)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.30071387G>CCA363054027RNF39c.783C>G (p.Cys261Trp)
c.771+12C>G (n.771+12C>G)
c.987C>G (p.Cys329Trp)
c.975+12C>G (n.975+12C>G)
c.528C>G (p.Cys176Trp)
6g.30071387G=CA1618576708RNF39c.783C= (p.Cys261=)
c.771+12C= (n.771+12C=)
c.987C= (p.Cys329=)
c.975+12C= (n.975+12C=)
c.528C= (p.Cys176=)
6g.30071387G>TCA363054028RNF39c.783C>A (p.Cys261Ter)
c.771+12C>A (n.771+12C>A)
c.987C>A (p.Cys329Ter)
c.975+12C>A (n.975+12C>A)
c.528C>A (p.Cys176Ter)
 gnomAD v4
6g.30071388C>ACA363054029RNF39c.782G>T (p.Cys261Phe)
c.771+11G>T (n.771+11G>T)
c.986G>T (p.Cys329Phe)
c.975+11G>T (n.975+11G>T)
c.527G>T (p.Cys176Phe)
 gnomAD v4
6g.30071388C>GCA363054030RNF39c.782G>C (p.Cys261Ser)
c.771+11G>C (n.771+11G>C)
c.986G>C (p.Cys329Ser)
c.975+11G>C (n.975+11G>C)
c.527G>C (p.Cys176Ser)
6g.30071388C>TCA363054031RNF39c.782G>A (p.Cys261Tyr)
c.771+11G>A (n.771+11G>A)
c.986G>A (p.Cys329Tyr)
c.975+11G>A (n.975+11G>A)
c.527G>A (p.Cys176Tyr)
 gnomAD v4
6g.30071389A>CCA363054032RNF39c.781T>G (p.Cys261Gly)
c.771+10T>G (n.771+10T>G)
c.985T>G (p.Cys329Gly)
c.975+10T>G (n.975+10T>G)
c.526T>G (p.Cys176Gly)
6g.30071389A>GCA363054033RNF39c.781T>C (p.Cys261Arg)
c.771+10T>C (n.771+10T>C)
c.985T>C (p.Cys329Arg)
c.975+10T>C (n.975+10T>C)
c.526T>C (p.Cys176Arg)
6g.30071389A>TCA363054034RNF39c.781T>A (p.Cys261Ser)
c.771+10T>A (n.771+10T>A)
c.985T>A (p.Cys329Ser)
c.975+10T>A (n.975+10T>A)
c.526T>A (p.Cys176Ser)
6g.30071390C>ACA449767487RNF39c.780G>T (p.Leu260=)
c.771+9G>T (n.771+9G>T)
c.984G>T (p.Leu328=)
c.975+9G>T (n.975+9G>T)
c.525G>T (p.Leu175=)
 gnomAD v4
6g.30071390C>GCA449767488RNF39c.780G>C (p.Leu260=)
c.771+9G>C (n.771+9G>C)
c.984G>C (p.Leu328=)
c.975+9G>C (n.975+9G>C)
c.525G>C (p.Leu175=)
6g.30071390C>TCA449767489RNF39c.780G>A (p.Leu260=)
c.771+9G>A (n.771+9G>A)
c.984G>A (p.Leu328=)
c.975+9G>A (n.975+9G>A)
c.525G>A (p.Leu175=)
 gnomAD v4
6g.30071391A>CCA363054035RNF39c.779T>G (p.Leu260Arg)
c.771+8T>G (n.771+8T>G)
c.983T>G (p.Leu328Arg)
c.975+8T>G (n.975+8T>G)
c.524T>G (p.Leu175Arg)
6g.30071391A>GCA363054037RNF39c.779T>C (p.Leu260Pro)
c.771+8T>C (n.771+8T>C)
c.983T>C (p.Leu328Pro)
c.975+8T>C (n.975+8T>C)
c.524T>C (p.Leu175Pro)
 gnomAD v4
6g.30071391A>TCA363054036RNF39c.779T>A (p.Leu260Gln)
c.771+8T>A (n.771+8T>A)
c.983T>A (p.Leu328Gln)
c.975+8T>A (n.975+8T>A)
c.524T>A (p.Leu175Gln)
 gnomAD v4
6g.30071392G>ACA449767490RNF39c.778C>T (p.Leu260=)
c.771+7C>T (n.771+7C>T)
c.982C>T (p.Leu328=)
c.975+7C>T (n.975+7C>T)
c.523C>T (p.Leu175=)
 dbSNP gnomAD v4
6g.30071392G>CCA363054038RNF39c.778C>G (p.Leu260Val)
c.771+7C>G (n.771+7C>G)
c.982C>G (p.Leu328Val)
c.975+7C>G (n.975+7C>G)
c.523C>G (p.Leu175Val)
 gnomAD v4
6g.30071392G=CA1618576710RNF39c.778C= (p.Leu260=)
c.771+7C= (n.771+7C=)
c.982C= (p.Leu328=)
c.975+7C= (n.975+7C=)
c.523C= (p.Leu175=)
6g.30071392G>TCA363054039RNF39c.778C>A (p.Leu260Met)
c.771+7C>A (n.771+7C>A)
c.982C>A (p.Leu328Met)
c.975+7C>A (n.975+7C>A)
c.523C>A (p.Leu175Met)
 gnomAD v4
6g.30071392_30071393delinsGCCA1618576709RNF39c.777_778delinsGC (p.Arg259=)
c.771+6_771+7delinsGC (n.771+6_771+7delinsGC)
c.981_982delinsGC (p.Arg327=)
c.975+6_975+7delinsGC (n.975+6_975+7delinsGC)
c.522_523delinsGC (p.Arg174=)
6g.30071393C>ACA363054040RNF39c.777G>T (p.Arg259Ser)
c.771+6G>T (n.771+6G>T)
c.981G>T (p.Arg327Ser)
c.975+6G>T (n.975+6G>T)
c.522G>T (p.Arg174Ser)
 gnomAD v4
6g.30071393C>GCA363054041RNF39c.777G>C (p.Arg259Ser)
c.771+6G>C (n.771+6G>C)
c.981G>C (p.Arg327Ser)
c.975+6G>C (n.975+6G>C)
c.522G>C (p.Arg174Ser)
6g.30071393C>TCA449767493RNF39c.777G>A (p.Arg259=)
c.771+6G>A (n.771+6G>A)
c.981G>A (p.Arg327=)
c.975+6G>A (n.975+6G>A)
c.522G>A (p.Arg174=)
 gnomAD v4
6g.30071394delCA566293184RNF39c.777del (p.Arg259SerfsTer?)
c.771+6del (n.771+6del)
c.981del (p.Arg327SerfsTer?)
c.975+6del (n.975+6del)
c.522del (p.Arg174SerfsTer?)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.30071394C>ACA363054042RNF39c.776G>T (p.Arg259Met)
c.771+5G>T (n.771+5G>T)
c.980G>T (p.Arg327Met)
c.975+5G>T (n.975+5G>T)
c.521G>T (p.Arg174Met)
6g.30071394C>GCA363054043RNF39c.776G>C (p.Arg259Thr)
c.771+5G>C (n.771+5G>C)
c.980G>C (p.Arg327Thr)
c.975+5G>C (n.975+5G>C)
c.521G>C (p.Arg174Thr)
 gnomAD v4
6g.30071394C>TCA363054044RNF39c.776G>A (p.Arg259Lys)
c.771+5G>A (n.771+5G>A)
c.980G>A (p.Arg327Lys)
c.975+5G>A (n.975+5G>A)
c.521G>A (p.Arg174Lys)
 gnomAD v4
6g.30071395T>ACA363054046RNF39c.775A>T (p.Arg259Trp)
c.771+4A>T (n.771+4A>T)
c.979A>T (p.Arg327Trp)
c.975+4A>T (n.975+4A>T)
c.520A>T (p.Arg174Trp)
 gnomAD v4
6g.30071395T>CCA363054045RNF39c.775A>G (p.Arg259Gly)
c.771+4A>G (n.771+4A>G)
c.979A>G (p.Arg327Gly)
c.975+4A>G (n.975+4A>G)
c.520A>G (p.Arg174Gly)
 gnomAD v4
6g.30071395T>GCA449767495RNF39c.775A>C (p.Arg259=)
c.771+4A>C (n.771+4A>C)
c.979A>C (p.Arg327=)
c.975+4A>C (n.975+4A>C)
c.520A>C (p.Arg174=)
6g.30071396T>ACA449767496RNF39c.774A>T (p.Val258=)
c.771+3A>T (n.771+3A>T)
c.978A>T (p.Val326=)
c.975+3A>T (n.975+3A>T)
c.519A>T (p.Val173=)
6g.30071396T>CCA449767497RNF39c.774A>G (p.Val258=)
c.771+3A>G (n.771+3A>G)
c.978A>G (p.Val326=)
c.975+3A>G (n.975+3A>G)
c.519A>G (p.Val173=)
 gnomAD v4
6g.30071396T>GCA449767498RNF39c.774A>C (p.Val258=)
c.771+3A>C (n.771+3A>C)
c.978A>C (p.Val326=)
c.975+3A>C (n.975+3A>C)
c.519A>C (p.Val173=)
6g.30071397A>CCA363054047RNF39c.773T>G (p.Val258Gly)
c.771+2T>G (n.771+2T>G)
c.977T>G (p.Val326Gly)
c.975+2T>G (n.975+2T>G)
c.518T>G (p.Val173Gly)
6g.30071397A>GCA363054048RNF39c.773T>C (p.Val258Ala)
c.771+2T>C (n.771+2T>C)
c.977T>C (p.Val326Ala)
c.975+2T>C (n.975+2T>C)
c.518T>C (p.Val173Ala)
6g.30071397A>TCA363054049RNF39c.773T>A (p.Val258Glu)
c.771+2T>A (n.771+2T>A)
c.977T>A (p.Val326Glu)
c.975+2T>A (n.975+2T>A)
c.518T>A (p.Val173Glu)
 gnomAD v4
6g.30071398C>ACA363054050RNF39c.772G>T (p.Val258Leu)
c.771+1G>T (n.771+1G>T)
c.976G>T (p.Val326Leu)
c.975+1G>T (n.975+1G>T)
c.517G>T (p.Val173Leu)
 gnomAD v4
6g.30071398C>GCA363054051RNF39c.772G>C (p.Val258Leu)
c.771+1G>C (n.771+1G>C)
c.976G>C (p.Val326Leu)
c.975+1G>C (n.975+1G>C)
c.517G>C (p.Val173Leu)
 gnomAD v4
6g.30071398C>TCA363054052RNF39c.772G>A (p.Val258Ile)
c.771+1G>A (n.771+1G>A)
c.976G>A (p.Val326Ile)
c.975+1G>A (n.975+1G>A)
c.517G>A (p.Val173Ile)
 gnomAD v4
6g.30071399G>ACA3694371RNF39c.771C>T (p.Cys257=)
c.975C>T (p.Cys325=)
c.516C>T (p.Cys172=)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.30071399G>CCA363054054RNF39c.771C>G (p.Cys257Trp)
c.975C>G (p.Cys325Trp)
c.516C>G (p.Cys172Trp)
 gnomAD v4
6g.30071399G=CA1618576711RNF39c.771C= (p.Cys257=)
c.975C= (p.Cys325=)
c.516C= (p.Cys172=)
6g.30071399G>TCA363054053RNF39c.771C>A (p.Cys257Ter)
c.975C>A (p.Cys325Ter)
c.516C>A (p.Cys172Ter)
 dbSNP gnomAD v2 gnomAD v4
6g.30071400C>ACA363054055RNF39c.770G>T (p.Cys257Phe)
c.974G>T (p.Cys325Phe)
c.515G>T (p.Cys172Phe)
 gnomAD v4
6g.30071400C>GCA363054056RNF39c.770G>C (p.Cys257Ser)
c.974G>C (p.Cys325Ser)
c.515G>C (p.Cys172Ser)
6g.30071400C>TCA363054057RNF39c.770G>A (p.Cys257Tyr)
c.974G>A (p.Cys325Tyr)
c.515G>A (p.Cys172Tyr)
 gnomAD v4
6g.30071400_30071401delinsCACA1618576712RNF39c.769_770delinsTG (p.Cys257=)
c.973_974delinsTG (p.Cys325=)
c.514_515delinsTG (p.Cys172=)
6g.30071401delCA3694372RNF39c.769del (p.Cys257AlafsTer2)
c.769del (p.Cys257AlafsTer?)
c.973del (p.Cys325AlafsTer2)
c.973del (p.Cys325AlafsTer?)
c.514del (p.Cys172AlafsTer2)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.30071401A>CCA363054058RNF39c.769T>G (p.Cys257Gly)
c.973T>G (p.Cys325Gly)
c.514T>G (p.Cys172Gly)
6g.30071401A>GCA363054059RNF39c.769T>C (p.Cys257Arg)
c.973T>C (p.Cys325Arg)
c.514T>C (p.Cys172Arg)
 gnomAD v4
6g.30071401A>TCA363054060RNF39c.769T>A (p.Cys257Ser)
c.973T>A (p.Cys325Ser)
c.514T>A (p.Cys172Ser)
6g.30071402G>ACA3694373RNF39c.768C>T (p.Gly256=)
c.972C>T (p.Gly324=)
c.513C>T (p.Gly171=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.30071402G>CCA449767501RNF39c.768C>G (p.Gly256=)
c.972C>G (p.Gly324=)
c.513C>G (p.Gly171=)
6g.30071402G=CA1618576713RNF39c.768C= (p.Gly256=)
c.972C= (p.Gly324=)
c.513C= (p.Gly171=)
6g.30071402G>TCA449767502RNF39c.768C>A (p.Gly256=)
c.972C>A (p.Gly324=)
c.513C>A (p.Gly171=)
 gnomAD v4
6g.30071403C>ACA363054061RNF39c.767G>T (p.Gly256Val)
c.971G>T (p.Gly324Val)
c.512G>T (p.Gly171Val)
 gnomAD v4
6g.30071403C=CA1618576714RNF39c.767G= (p.Gly256=)
c.971G= (p.Gly324=)
c.512G= (p.Gly171=)
6g.30071403C>GCA363054062RNF39c.767G>C (p.Gly256Ala)
c.971G>C (p.Gly324Ala)
c.512G>C (p.Gly171Ala)
6g.30071403C>TCA3694374RNF39c.767G>A (p.Gly256Asp)
c.971G>A (p.Gly324Asp)
c.512G>A (p.Gly171Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.30071404C>ACA363054063RNF39c.766G>T (p.Gly256Cys)
c.970G>T (p.Gly324Cys)
c.511G>T (p.Gly171Cys)
 gnomAD v4
6g.30071404C>GCA363054065RNF39c.766G>C (p.Gly256Arg)
c.970G>C (p.Gly324Arg)
c.511G>C (p.Gly171Arg)
6g.30071404C>TCA363054064RNF39c.766G>A (p.Gly256Ser)
c.970G>A (p.Gly324Ser)
c.511G>A (p.Gly171Ser)
 gnomAD v4
6g.30071405C>ACA363054066RNF39c.765G>T (p.Lys255Asn)
c.969G>T (p.Lys323Asn)
c.510G>T (p.Lys170Asn)
 gnomAD v4
6g.30071405C=CA1618576715RNF39c.765G= (p.Lys255=)
c.969G= (p.Lys323=)
c.510G= (p.Lys170=)
6g.30071405C>GCA363054067RNF39c.765G>C (p.Lys255Asn)
c.969G>C (p.Lys323Asn)
c.510G>C (p.Lys170Asn)
6g.30071405C>TCA3694375RNF39c.765G>A (p.Lys255=)
c.969G>A (p.Lys323=)
c.510G>A (p.Lys170=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.30071406T>ACA363054068RNF39c.764A>T (p.Lys255Met)
c.968A>T (p.Lys323Met)
c.509A>T (p.Lys170Met)
 gnomAD v4
6g.30071406T>CCA363054069RNF39c.764A>G (p.Lys255Arg)
c.968A>G (p.Lys323Arg)
c.509A>G (p.Lys170Arg)
 gnomAD v4
6g.30071406T>GCA363054070RNF39c.764A>C (p.Lys255Thr)
c.968A>C (p.Lys323Thr)
c.509A>C (p.Lys170Thr)
6g.30071407delCA2677813969RNF39c.764del (p.Lys255ArgfsTer4)
c.764del (p.Lys255ArgfsTer?)
c.968del (p.Lys323ArgfsTer4)
c.968del (p.Lys323ArgfsTer?)
c.509del (p.Lys170ArgfsTer4)
 gnomAD v4
6g.30071407T>ACA363054071RNF39c.763A>T (p.Lys255Ter)
c.967A>T (p.Lys323Ter)
c.508A>T (p.Lys170Ter)
 dbSNP gnomAD v2
6g.30071407T>CCA363054072RNF39c.763A>G (p.Lys255Glu)
c.967A>G (p.Lys323Glu)
c.508A>G (p.Lys170Glu)
 gnomAD v4
6g.30071407T>GCA363054073RNF39c.763A>C (p.Lys255Gln)
c.967A>C (p.Lys323Gln)
c.508A>C (p.Lys170Gln)
 gnomAD v4
6g.30071407T=CA1618576716RNF39c.763A= (p.Lys255=)
c.967A= (p.Lys323=)
c.508A= (p.Lys170=)
6g.30071408G>ACA449767504RNF39c.762C>T (p.Arg254=)
c.966C>T (p.Arg322=)
c.507C>T (p.Arg169=)
6g.30071408G>CCA449767505RNF39c.762C>G (p.Arg254=)
c.966C>G (p.Arg322=)
c.507C>G (p.Arg169=)
 dbSNP gnomAD v3 gnomAD v4
6g.30071408G=CA1618576718RNF39c.762C= (p.Arg254=)
c.966C= (p.Arg322=)
c.507C= (p.Arg169=)
6g.30071408G>TCA449767506RNF39c.762C>A (p.Arg254=)
c.966C>A (p.Arg322=)
c.507C>A (p.Arg169=)
 gnomAD v4
6g.30071408dupCA1618576717RNF39c.762dup (p.Lys255GlnfsTer?)
c.966dup (p.Lys323GlnfsTer?)
c.507dup (p.Lys170GlnfsTer?)
 dbSNP
6g.30071409C>ACA363054074RNF39c.761G>T (p.Arg254Leu)
c.965G>T (p.Arg322Leu)
c.506G>T (p.Arg169Leu)
 dbSNP gnomAD v4
6g.30071409C=CA1618576719RNF39c.761G= (p.Arg254=)
c.965G= (p.Arg322=)
c.506G= (p.Arg169=)
6g.30071409C>GCA363054075RNF39c.761G>C (p.Arg254Pro)
c.965G>C (p.Arg322Pro)
c.506G>C (p.Arg169Pro)
 dbSNP gnomAD v3 gnomAD v4
6g.30071409C>TCA363054076RNF39c.761G>A (p.Arg254His)
c.965G>A (p.Arg322His)
c.506G>A (p.Arg169His)
 gnomAD v4
6g.30071409_30071412delCA2677813970RNF39c.758_761del (p.Gln253ProfsTer5)
c.758_761del (p.Gln253ProfsTer?)
c.962_965del (p.Gln321ProfsTer5)
c.962_965del (p.Gln321ProfsTer?)
c.503_506del (p.Gln168ProfsTer5)
 gnomAD v4
6g.30071409_30071410insTCA136035959RNF39c.760_761insA (p.Arg254GlnfsTer?)
c.964_965insA (p.Arg322GlnfsTer?)
c.505_506insA (p.Arg169GlnfsTer?)
 dbSNP
6g.30071410G>ACA363054077RNF39c.760C>T (p.Arg254Cys)
c.964C>T (p.Arg322Cys)
c.505C>T (p.Arg169Cys)
 dbSNP gnomAD v2 gnomAD v4
6g.30071410G>CCA363054079RNF39c.760C>G (p.Arg254Gly)
c.964C>G (p.Arg322Gly)
c.505C>G (p.Arg169Gly)
6g.30071410G=CA1618576720RNF39c.760C= (p.Arg254=)
c.964C= (p.Arg322=)
c.505C= (p.Arg169=)
6g.30071410G>TCA363054078RNF39c.760C>A (p.Arg254Ser)
c.964C>A (p.Arg322Ser)
c.505C>A (p.Arg169Ser)
 gnomAD v4
6g.30071411T>ACA363054080RNF39c.759A>T (p.Gln253His)
c.963A>T (p.Gln321His)
c.504A>T (p.Gln168His)
6g.30071411T>CCA449767510RNF39c.759A>G (p.Gln253=)
c.963A>G (p.Gln321=)
c.504A>G (p.Gln168=)
 gnomAD v4
6g.30071411T>GCA363054081RNF39c.759A>C (p.Gln253His)
c.963A>C (p.Gln321His)
c.504A>C (p.Gln168His)
6g.30071412T>ACA363054082RNF39c.758A>T (p.Gln253Leu)
c.962A>T (p.Gln321Leu)
c.503A>T (p.Gln168Leu)
6g.30071412T>CCA363054083RNF39c.758A>G (p.Gln253Arg)
c.962A>G (p.Gln321Arg)
c.503A>G (p.Gln168Arg)
 gnomAD v4
6g.30071412T>GCA363054084RNF39c.758A>C (p.Gln253Pro)
c.962A>C (p.Gln321Pro)
c.503A>C (p.Gln168Pro)
6g.30071413G>ACA363054085RNF39c.757C>T (p.Gln253Ter)
c.961C>T (p.Gln321Ter)
c.502C>T (p.Gln168Ter)
 gnomAD v4
6g.30071413G>CCA363054086RNF39c.757C>G (p.Gln253Glu)
c.961C>G (p.Gln321Glu)
c.502C>G (p.Gln168Glu)
6g.30071413G>TCA363054087RNF39c.757C>A (p.Gln253Lys)
c.961C>A (p.Gln321Lys)
c.502C>A (p.Gln168Lys)
 gnomAD v4
6g.30071413_30071414delCA2677813971RNF39c.756_757del (p.Gln253ThrfsTer?)
c.960_961del (p.Gln321ThrfsTer?)
c.501_502del (p.Gln168ThrfsTer?)
 gnomAD v4
6g.30071414C>ACA449767513RNF39c.756G>T (p.Val252=)
c.960G>T (p.Val320=)
c.501G>T (p.Val167=)
 gnomAD v4
6g.30071414C=CA1618576721RNF39c.756G= (p.Val252=)
c.960G= (p.Val320=)
c.501G= (p.Val167=)
6g.30071414C>GCA449767512RNF39c.756G>C (p.Val252=)
c.960G>C (p.Val320=)
c.501G>C (p.Val167=)
6g.30071414C>TCA449767511RNF39c.756G>A (p.Val252=)
c.960G>A (p.Val320=)
c.501G>A (p.Val167=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.30071414_30071415insTTTTTTCA2677813972RNF39c.755_756insAAAAAA (p.Val252_Gln253insLysLys)
c.959_960insAAAAAA (p.Val320_Gln321insLysLys)
c.500_501insAAAAAA (p.Val167_Gln168insLysLys)
 gnomAD v4
6g.30071415A>CCA363054088RNF39c.755T>G (p.Val252Gly)
c.959T>G (p.Val320Gly)
c.500T>G (p.Val167Gly)
6g.30071415A>GCA363054089RNF39c.755T>C (p.Val252Ala)
c.959T>C (p.Val320Ala)
c.500T>C (p.Val167Ala)
 gnomAD v4
6g.30071415A>TCA363054090RNF39c.755T>A (p.Val252Glu)
c.959T>A (p.Val320Glu)
c.500T>A (p.Val167Glu)
6g.30071416C>ACA363054092RNF39c.754G>T (p.Val252Leu)
c.958G>T (p.Val320Leu)
c.499G>T (p.Val167Leu)
 gnomAD v4
6g.30071416C>GCA363054093RNF39c.754G>C (p.Val252Leu)
c.958G>C (p.Val320Leu)
c.499G>C (p.Val167Leu)
6g.30071416C>TCA363054091RNF39c.754G>A (p.Val252Met)
c.958G>A (p.Val320Met)
c.499G>A (p.Val167Met)
 gnomAD v4
6g.30071417T>ACA449767515RNF39c.753A>T (p.Ser251=)
c.957A>T (p.Ser319=)
c.498A>T (p.Ser166=)
6g.30071417T>CCA449767516RNF39c.753A>G (p.Ser251=)
c.957A>G (p.Ser319=)
c.498A>G (p.Ser166=)
 gnomAD v4
6g.30071417T>GCA449767517RNF39c.753A>C (p.Ser251=)
c.957A>C (p.Ser319=)
c.498A>C (p.Ser166=)
6g.30071418G>ACA363054095RNF39c.752C>T (p.Ser251Leu)
c.956C>T (p.Ser319Leu)
c.497C>T (p.Ser166Leu)
 gnomAD v4
6g.30071418G>CCA363054094RNF39c.752C>G (p.Ser251Ter)
c.956C>G (p.Ser319Ter)
c.497C>G (p.Ser166Ter)
6g.30071418G>TCA363054096RNF39c.752C>A (p.Ser251Ter)
c.956C>A (p.Ser319Ter)
c.497C>A (p.Ser166Ter)
 gnomAD v4
6g.30071419A>CCA363054097RNF39c.751T>G (p.Ser251Ala)
c.955T>G (p.Ser319Ala)
c.496T>G (p.Ser166Ala)
6g.30071419A>GCA363054098RNF39c.751T>C (p.Ser251Pro)
c.955T>C (p.Ser319Pro)
c.496T>C (p.Ser166Pro)
6g.30071419A>TCA363054099RNF39c.751T>A (p.Ser251Thr)
c.955T>A (p.Ser319Thr)
c.496T>A (p.Ser166Thr)
 gnomAD v4
6g.30071420T>ACA363054100RNF39c.750A>T (p.Glu250Asp)
c.954A>T (p.Glu318Asp)
c.495A>T (p.Glu165Asp)
6g.30071420T>CCA449767521RNF39c.750A>G (p.Glu250=)
c.954A>G (p.Glu318=)
c.495A>G (p.Glu165=)
 gnomAD v4
6g.30071420T>GCA363054101RNF39c.750A>C (p.Glu250Asp)
c.954A>C (p.Glu318Asp)
c.495A>C (p.Glu165Asp)
6g.30071421T>ACA3694376RNF39c.749A>T (p.Glu250Val)
c.953A>T (p.Glu318Val)
c.494A>T (p.Glu165Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.30071421T>CCA363054103RNF39c.749A>G (p.Glu250Gly)
c.953A>G (p.Glu318Gly)
c.494A>G (p.Glu165Gly)
6g.30071421T>GCA363054102RNF39c.749A>C (p.Glu250Ala)
c.953A>C (p.Glu318Ala)
c.494A>C (p.Glu165Ala)
6g.30071421T=CA1618576722RNF39c.749A= (p.Glu250=)
c.953A= (p.Glu318=)
c.494A= (p.Glu165=)
6g.30071421_30071423delCA2677813973RNF39c.747_749del (p.Glu250del)
c.951_953del (p.Glu318del)
c.492_494del (p.Glu165del)
 gnomAD v4
6g.30071422C>ACA363054104RNF39c.748G>T (p.Glu250Ter)
c.952G>T (p.Glu318Ter)
c.493G>T (p.Glu165Ter)
 gnomAD v4
6g.30071422C=CA1618576723RNF39c.748G= (p.Glu250=)
c.952G= (p.Glu318=)
c.493G= (p.Glu165=)
6g.30071422C>GCA363054105RNF39c.748G>C (p.Glu250Gln)
c.952G>C (p.Glu318Gln)
c.493G>C (p.Glu165Gln)
 gnomAD v4
6g.30071422C>TCA363054106RNF39c.748G>A (p.Glu250Lys)
c.952G>A (p.Glu318Lys)
c.493G>A (p.Glu165Lys)
 dbSNP gnomAD v2 gnomAD v4
6g.30071425delCA2677813974RNF39c.748del (p.Glu250AsnfsTer9)
c.748del (p.Glu250AsnfsTer?)
c.952del (p.Glu318AsnfsTer9)
c.952del (p.Glu318AsnfsTer?)
c.493del (p.Glu165AsnfsTer9)
 gnomAD v4
6g.30071423C>ACA449767522RNF39c.747G>T (p.Gly249=)
c.951G>T (p.Gly317=)
c.492G>T (p.Gly164=)
 gnomAD v4
6g.30071423C=CA1618576724RNF39c.747G= (p.Gly249=)
c.951G= (p.Gly317=)
c.492G= (p.Gly164=)
6g.30071423C>GCA449767524RNF39c.747G>C (p.Gly249=)
c.951G>C (p.Gly317=)
c.492G>C (p.Gly164=)
6g.30071423C>TCA449767525RNF39c.747G>A (p.Gly249=)
c.951G>A (p.Gly317=)
c.492G>A (p.Gly164=)
 dbSNP gnomAD v2 gnomAD v4
6g.30071424C>ACA363054107RNF39c.746G>T (p.Gly249Val)
c.950G>T (p.Gly317Val)
c.491G>T (p.Gly164Val)
 gnomAD v4
6g.30071424C=CA1618576725RNF39c.746G= (p.Gly249=)
c.950G= (p.Gly317=)
c.491G= (p.Gly164=)
6g.30071424C>GCA363054108RNF39c.746G>C (p.Gly249Ala)
c.950G>C (p.Gly317Ala)
c.491G>C (p.Gly164Ala)
 dbSNP gnomAD v2
6g.30071424C>TCA363054109RNF39c.746G>A (p.Gly249Glu)
c.950G>A (p.Gly317Glu)
c.491G>A (p.Gly164Glu)
 gnomAD v4
6g.30071425C>ACA136035966RNF39c.745G>T (p.Gly249Trp)
c.949G>T (p.Gly317Trp)
c.490G>T (p.Gly164Trp)
 dbSNP gnomAD v4
6g.30071425C=CA1618576726RNF39c.745G= (p.Gly249=)
c.949G= (p.Gly317=)
c.490G= (p.Gly164=)
6g.30071425C>GCA363054110RNF39c.745G>C (p.Gly249Arg)
c.949G>C (p.Gly317Arg)
c.490G>C (p.Gly164Arg)
 gnomAD v4
6g.30071425C>TCA3694377RNF39c.745G>A (p.Gly249Arg)
c.949G>A (p.Gly317Arg)
c.490G>A (p.Gly164Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.30071426G>ACA449767527RNF39c.744C>T (p.Ala248=)
c.948C>T (p.Ala316=)
c.489C>T (p.Ala163=)
 dbSNP gnomAD v3 gnomAD v4
6g.30071426G>CCA449767528RNF39c.744C>G (p.Ala248=)
c.948C>G (p.Ala316=)
c.489C>G (p.Ala163=)
 gnomAD v4
6g.30071426G=CA1618576727RNF39c.744C= (p.Ala248=)
c.948C= (p.Ala316=)
c.489C= (p.Ala163=)
6g.30071426G>TCA449767529RNF39c.744C>A (p.Ala248=)
c.948C>A (p.Ala316=)
c.489C>A (p.Ala163=)
 gnomAD v4
6g.30071427G>ACA363054111RNF39c.743C>T (p.Ala248Val)
c.947C>T (p.Ala316Val)
c.488C>T (p.Ala163Val)
 gnomAD v4
6g.30071427G>CCA363054112RNF39c.743C>G (p.Ala248Gly)
c.947C>G (p.Ala316Gly)
c.488C>G (p.Ala163Gly)
6g.30071427G>TCA363054113RNF39c.743C>A (p.Ala248Asp)
c.947C>A (p.Ala316Asp)
c.488C>A (p.Ala163Asp)
 gnomAD v4
6g.30071429_30071431delCA2677813975RNF39c.741_743del (p.Ala248del)
c.945_947del (p.Ala316del)
c.486_488del (p.Ala163del)
 gnomAD v4
6g.30071428C>ACA363054114RNF39c.742G>T (p.Ala248Ser)
c.946G>T (p.Ala316Ser)
c.487G>T (p.Ala163Ser)
 gnomAD v4
6g.30071428C>GCA363054115RNF39c.742G>C (p.Ala248Pro)
c.946G>C (p.Ala316Pro)
c.487G>C (p.Ala163Pro)
6g.30071428C>TCA363054116RNF39c.742G>A (p.Ala248Thr)
c.946G>A (p.Ala316Thr)
c.487G>A (p.Ala163Thr)
 gnomAD v4
6g.30071429C>ACA449767531RNF39c.741G>T (p.Ala247=)
c.945G>T (p.Ala315=)
c.486G>T (p.Ala162=)
 gnomAD v4
6g.30071429C>GCA449767532RNF39c.741G>C (p.Ala247=)
c.945G>C (p.Ala315=)
c.486G>C (p.Ala162=)
6g.30071429C>TCA449767533RNF39c.741G>A (p.Ala247=)
c.945G>A (p.Ala315=)
c.486G>A (p.Ala162=)
 gnomAD v4
6g.30071430G>ACA363054117RNF39c.740C>T (p.Ala247Val)
c.944C>T (p.Ala315Val)
c.485C>T (p.Ala162Val)
 gnomAD v4
6g.30071430G>CCA363054118RNF39c.740C>G (p.Ala247Gly)
c.944C>G (p.Ala315Gly)
c.485C>G (p.Ala162Gly)
 gnomAD v4
6g.30071430G>TCA363054119RNF39c.740C>A (p.Ala247Glu)
c.944C>A (p.Ala315Glu)
c.485C>A (p.Ala162Glu)
 gnomAD v4
6g.30071431C>ACA363054120RNF39c.739G>T (p.Ala247Ser)
c.943G>T (p.Ala315Ser)
c.484G>T (p.Ala162Ser)
 gnomAD v4
6g.30071431C>GCA363054121RNF39c.739G>C (p.Ala247Pro)
c.943G>C (p.Ala315Pro)
c.484G>C (p.Ala162Pro)
6g.30071431C>TCA363054122RNF39c.739G>A (p.Ala247Thr)
c.943G>A (p.Ala315Thr)
c.484G>A (p.Ala162Thr)
 gnomAD v4
6g.30071432G>ACA449767536RNF39c.738C>T (p.Gly246=)
c.942C>T (p.Gly314=)
c.483C>T (p.Gly161=)
 gnomAD v4
6g.30071432G>CCA449767538RNF39c.738C>G (p.Gly246=)
c.942C>G (p.Gly314=)
c.483C>G (p.Gly161=)
6g.30071432G>TCA449767539RNF39c.738C>A (p.Gly246=)
c.942C>A (p.Gly314=)
c.483C>A (p.Gly161=)
 gnomAD v4
6g.30071433C>ACA363054123RNF39c.737G>T (p.Gly246Val)
c.941G>T (p.Gly314Val)
c.482G>T (p.Gly161Val)
 gnomAD v4
6g.30071433C=CA1618576728RNF39c.737G= (p.Gly246=)
c.941G= (p.Gly314=)
c.482G= (p.Gly161=)
6g.30071433C>GCA363054125RNF39c.737G>C (p.Gly246Ala)
c.941G>C (p.Gly314Ala)
c.482G>C (p.Gly161Ala)
6g.30071433C>TCA363054124RNF39c.737G>A (p.Gly246Asp)
c.941G>A (p.Gly314Asp)
c.482G>A (p.Gly161Asp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.30071434C>ACA363054126RNF39c.736G>T (p.Gly246Cys)
c.940G>T (p.Gly314Cys)
c.481G>T (p.Gly161Cys)
 gnomAD v4
6g.30071434C=CA1618576729RNF39c.736G= (p.Gly246=)
c.940G= (p.Gly314=)
c.481G= (p.Gly161=)
6g.30071434C>GCA363054127RNF39c.736G>C (p.Gly246Arg)
c.940G>C (p.Gly314Arg)
c.481G>C (p.Gly161Arg)
 gnomAD v4
6g.30071434C>TCA136035985RNF39c.736G>A (p.Gly246Ser)
c.940G>A (p.Gly314Ser)
c.481G>A (p.Gly161Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.30071435C>ACA449767542RNF39c.735G>T (p.Val245=)
c.939G>T (p.Val313=)
c.480G>T (p.Val160=)
 gnomAD v4
6g.30071435C>GCA449767541RNF39c.735G>C (p.Val245=)
c.939G>C (p.Val313=)
c.480G>C (p.Val160=)
6g.30071435C>TCA449767540RNF39c.735G>A (p.Val245=)
c.939G>A (p.Val313=)
c.480G>A (p.Val160=)
 gnomAD v4
6g.30071436A>CCA363054128RNF39c.734T>G (p.Val245Gly)
c.938T>G (p.Val313Gly)
c.479T>G (p.Val160Gly)
6g.30071436A>GCA363054129RNF39c.734T>C (p.Val245Ala)
c.938T>C (p.Val313Ala)
c.479T>C (p.Val160Ala)
 gnomAD v4
6g.30071436A>TCA363054130RNF39c.734T>A (p.Val245Glu)
c.938T>A (p.Val313Glu)
c.479T>A (p.Val160Glu)
6g.30071437C>ACA363054131RNF39c.733G>T (p.Val245Leu)
c.937G>T (p.Val313Leu)
c.478G>T (p.Val160Leu)
 gnomAD v4
6g.30071437C>GCA363054132RNF39c.733G>C (p.Val245Leu)
c.937G>C (p.Val313Leu)
c.478G>C (p.Val160Leu)
6g.30071437C>TCA363054133RNF39c.733G>A (p.Val245Met)
c.937G>A (p.Val313Met)
c.478G>A (p.Val160Met)
 gnomAD v4
6g.30071437_30071438insCGAGATCCA2677813976RNF39c.733_734insATCTCGG (p.Val245AspfsTer?)
c.937_938insATCTCGG (p.Val313AspfsTer?)
c.478_479insATCTCGG (p.Val160AspfsTer?)
 gnomAD v4
6g.30071438T>ACA449767546RNF39c.732A>T (p.Ala244=)
c.936A>T (p.Ala312=)
c.477A>T (p.Ala159=)
6g.30071438T>CCA449767547RNF39c.732A>G (p.Ala244=)
c.936A>G (p.Ala312=)
c.477A>G (p.Ala159=)
 gnomAD v4
6g.30071438T>GCA3694378RNF39c.732A>C (p.Ala244=)
c.936A>C (p.Ala312=)
c.477A>C (p.Ala159=)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.30071438T=CA1618576730RNF39c.732A= (p.Ala244=)
c.936A= (p.Ala312=)
c.477A= (p.Ala159=)
6g.30071439G>ACA363054134RNF39c.731C>T (p.Ala244Val)
c.935C>T (p.Ala312Val)
c.476C>T (p.Ala159Val)
 gnomAD v4
6g.30071439G>CCA363054135RNF39c.731C>G (p.Ala244Gly)
c.935C>G (p.Ala312Gly)
c.476C>G (p.Ala159Gly)
6g.30071439G>TCA363054136RNF39c.731C>A (p.Ala244Glu)
c.935C>A (p.Ala312Glu)
c.476C>A (p.Ala159Glu)
 gnomAD v4
6g.30071440C>ACA363054137RNF39c.730G>T (p.Ala244Ser)
c.934G>T (p.Ala312Ser)
c.475G>T (p.Ala159Ser)
 gnomAD v4
6g.30071440C=CA1618576731RNF39c.730G= (p.Ala244=)
c.934G= (p.Ala312=)
c.475G= (p.Ala159=)
6g.30071440C>GCA363054139RNF39c.730G>C (p.Ala244Pro)
c.934G>C (p.Ala312Pro)
c.475G>C (p.Ala159Pro)
 gnomAD v4
6g.30071440C>TCA363054138RNF39c.730G>A (p.Ala244Thr)
c.934G>A (p.Ala312Thr)
c.475G>A (p.Ala159Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.30071441A=CA1618576732RNF39c.729T= (p.Tyr243=)
c.933T= (p.Tyr311=)
c.474T= (p.Tyr158=)
6g.30071441A>CCA363054140RNF39c.729T>G (p.Tyr243Ter)
c.933T>G (p.Tyr311Ter)
c.474T>G (p.Tyr158Ter)
6g.30071441A>GCA449767550RNF39c.729T>C (p.Tyr243=)
c.933T>C (p.Tyr311=)
c.474T>C (p.Tyr158=)
 dbSNP gnomAD v4
6g.30071441A>TCA363054141RNF39c.729T>A (p.Tyr243Ter)
c.933T>A (p.Tyr311Ter)
c.474T>A (p.Tyr158Ter)
6g.30071441_30071442insCCA2677813977RNF39c.728_729insG (p.Tyr243Ter)
c.932_933insG (p.Tyr311Ter)
c.473_474insG (p.Tyr158Ter)
 gnomAD v4
6g.30071442T>ACA363054142RNF39c.728A>T (p.Tyr243Phe)
c.932A>T (p.Tyr311Phe)
c.473A>T (p.Tyr158Phe)
6g.30071442T>CCA363054143RNF39c.728A>G (p.Tyr243Cys)
c.932A>G (p.Tyr311Cys)
c.473A>G (p.Tyr158Cys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.30071442T>GCA363054144RNF39c.728A>C (p.Tyr243Ser)
c.932A>C (p.Tyr311Ser)
c.473A>C (p.Tyr158Ser)
6g.30071442T=CA1618576733RNF39c.728A= (p.Tyr243=)
c.932A= (p.Tyr311=)
c.473A= (p.Tyr158=)
6g.30071443A>CCA363054145RNF39c.727T>G (p.Tyr243Asp)
c.931T>G (p.Tyr311Asp)
c.472T>G (p.Tyr158Asp)
6g.30071443A>GCA363054146RNF39c.727T>C (p.Tyr243His)
c.931T>C (p.Tyr311His)
c.472T>C (p.Tyr158His)
 gnomAD v4
6g.30071443A>TCA363054147RNF39c.727T>A (p.Tyr243Asn)
c.931T>A (p.Tyr311Asn)
c.472T>A (p.Tyr158Asn)
 gnomAD v4
6g.30071444G>ACA449767551RNF39c.726C>T (p.His242=)
c.930C>T (p.His310=)
c.471C>T (p.His157=)
6g.30071444G>CCA363054148RNF39c.726C>G (p.His242Gln)
c.930C>G (p.His310Gln)
c.471C>G (p.His157Gln)
6g.30071444G>TCA363054149RNF39c.726C>A (p.His242Gln)
c.930C>A (p.His310Gln)
c.471C>A (p.His157Gln)
 gnomAD v4
6g.30071444_30071447delCA2677813978RNF39c.723_726del (p.His242MetfsTer16)
c.723_726del (p.His242MetfsTer?)
c.927_930del (p.His310MetfsTer16)
c.927_930del (p.His310MetfsTer?)
c.468_471del (p.His157MetfsTer16)
 gnomAD v4
6g.30071445T>ACA363054151RNF39c.725A>T (p.His242Leu)
c.929A>T (p.His310Leu)
c.470A>T (p.His157Leu)
 gnomAD v4
6g.30071445T>CCA363054152RNF39c.725A>G (p.His242Arg)
c.929A>G (p.His310Arg)
c.470A>G (p.His157Arg)
 dbSNP gnomAD v4
6g.30071445T>GCA363054150RNF39c.725A>C (p.His242Pro)
c.929A>C (p.His310Pro)
c.470A>C (p.His157Pro)
6g.30071445T=CA1618576734RNF39c.725A= (p.His242=)
c.929A= (p.His310=)
c.470A= (p.His157=)
6g.30071446G>ACA363054153RNF39c.724C>T (p.His242Tyr)
c.928C>T (p.His310Tyr)
c.469C>T (p.His157Tyr)
 dbSNP gnomAD v2 gnomAD v4
6g.30071446G>CCA363054154RNF39c.724C>G (p.His242Asp)
c.928C>G (p.His310Asp)
c.469C>G (p.His157Asp)
6g.30071446G=CA1618576735RNF39c.724C= (p.His242=)
c.928C= (p.His310=)
c.469C= (p.His157=)
6g.30071446G>TCA363054155RNF39c.724C>A (p.His242Asn)
c.928C>A (p.His310Asn)
c.469C>A (p.His157Asn)
 gnomAD v4
6g.30071447G>ACA449767555RNF39c.723C>T (p.Ser241=)
c.927C>T (p.Ser309=)
c.468C>T (p.Ser156=)
 gnomAD v4
6g.30071447G>CCA363054156RNF39c.723C>G (p.Ser241Arg)
c.927C>G (p.Ser309Arg)
c.468C>G (p.Ser156Arg)
6g.30071447G>TCA363054157RNF39c.723C>A (p.Ser241Arg)
c.927C>A (p.Ser309Arg)
c.468C>A (p.Ser156Arg)
 gnomAD v4
6g.30071448C>ACA363054158RNF39c.722G>T (p.Ser241Ile)
c.926G>T (p.Ser309Ile)
c.467G>T (p.Ser156Ile)
 gnomAD v4
6g.30071448C>GCA363054159RNF39c.722G>C (p.Ser241Thr)
c.926G>C (p.Ser309Thr)
c.467G>C (p.Ser156Thr)
 gnomAD v4
6g.30071448C>TCA363054160RNF39c.722G>A (p.Ser241Asn)
c.926G>A (p.Ser309Asn)
c.467G>A (p.Ser156Asn)
 gnomAD v4 COSMIC COSMIC
6g.30071449T>ACA363054161RNF39c.721A>T (p.Ser241Cys)
c.925A>T (p.Ser309Cys)
c.466A>T (p.Ser156Cys)
6g.30071449T>CCA363054162RNF39c.721A>G (p.Ser241Gly)
c.925A>G (p.Ser309Gly)
c.466A>G (p.Ser156Gly)
 gnomAD v4
6g.30071449T>GCA363054163RNF39c.721A>C (p.Ser241Arg)
c.925A>C (p.Ser309Arg)
c.466A>C (p.Ser156Arg)
6g.30071450C>ACA363054164RNF39c.720G>T (p.Glu240Asp)
c.924G>T (p.Glu308Asp)
c.465G>T (p.Glu155Asp)
 gnomAD v4
6g.30071450C=CA1618576736RNF39c.720G= (p.Glu240=)
c.924G= (p.Glu308=)
c.465G= (p.Glu155=)
6g.30071450C>GCA363054165RNF39c.720G>C (p.Glu240Asp)
c.924G>C (p.Glu308Asp)
c.465G>C (p.Glu155Asp)
 dbSNP gnomAD v3 gnomAD v4
6g.30071450C>TCA449767559RNF39c.720G>A (p.Glu240=)
c.924G>A (p.Glu308=)
c.465G>A (p.Glu155=)
 gnomAD v4
6g.30071453_30071455delCA2677813979RNF39c.718_720del (p.Glu240del)
c.922_924del (p.Glu308del)
c.463_465del (p.Glu155del)
 gnomAD v4
6g.30071451T>ACA363054168RNF39c.719A>T (p.Glu240Val)
c.923A>T (p.Glu308Val)
c.464A>T (p.Glu155Val)
 gnomAD v4
6g.30071451T>CCA363054167RNF39c.719A>G (p.Glu240Gly)
c.923A>G (p.Glu308Gly)
c.464A>G (p.Glu155Gly)
 gnomAD v4
6g.30071451T>GCA363054166RNF39c.719A>C (p.Glu240Ala)
c.923A>C (p.Glu308Ala)
c.464A>C (p.Glu155Ala)
6g.30071452C>ACA363054169RNF39c.718G>T (p.Glu240Ter)
c.922G>T (p.Glu308Ter)
c.463G>T (p.Glu155Ter)
 gnomAD v4
6g.30071452C=CA1618576737RNF39c.718G= (p.Glu240=)
c.922G= (p.Glu308=)
c.463G= (p.Glu155=)
6g.30071452C>GCA363054170RNF39c.718G>C (p.Glu240Gln)
c.922G>C (p.Glu308Gln)
c.463G>C (p.Glu155Gln)
6g.30071452C>TCA363054171RNF39c.718G>A (p.Glu240Lys)
c.922G>A (p.Glu308Lys)
c.463G>A (p.Glu155Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.30071453C>ACA363054172RNF39c.717G>T (p.Glu239Asp)
c.921G>T (p.Glu307Asp)
c.462G>T (p.Glu154Asp)
 gnomAD v4
6g.30071453C=CA1618576738RNF39c.717G= (p.Glu239=)
c.921G= (p.Glu307=)
c.462G= (p.Glu154=)
6g.30071453C>GCA363054173RNF39c.717G>C (p.Glu239Asp)
c.921G>C (p.Glu307Asp)
c.462G>C (p.Glu154Asp)
 gnomAD v4
6g.30071453C>TCA3694379RNF39c.717G>A (p.Glu239=)
c.921G>A (p.Glu307=)
c.462G>A (p.Glu154=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.30071453_30071456delinsCTCGCA1618576739RNF39c.714_717delinsCGAG (p.Asp238=)
c.918_921delinsCGAG (p.Asp306=)
c.459_462delinsCGAG (p.Asp153=)
6g.30071454T>ACA363054174RNF39c.716A>T (p.Glu239Val)
c.920A>T (p.Glu307Val)
c.461A>T (p.Glu154Val)
 gnomAD v4
6g.30071454T>CCA363054175RNF39c.716A>G (p.Glu239Gly)
c.920A>G (p.Glu307Gly)
c.461A>G (p.Glu154Gly)
 dbSNP gnomAD v3 gnomAD v4
6g.30071454T>GCA363054176RNF39c.716A>C (p.Glu239Ala)
c.920A>C (p.Glu307Ala)
c.461A>C (p.Glu154Ala)
 gnomAD v4
6g.30071454T=CA1618576740RNF39c.716A= (p.Glu239=)
c.920A= (p.Glu307=)
c.461A= (p.Glu154=)
6g.30071459_30071461delCA566293185RNF39c.714_716del (p.Asp238del)
c.918_920del (p.Asp306del)
c.459_461del (p.Asp153del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.30071455C>ACA363054177RNF39c.715G>T (p.Glu239Ter)
c.919G>T (p.Glu307Ter)
c.460G>T (p.Glu154Ter)
 gnomAD v4
6g.30071455C=CA1618576741RNF39c.715G= (p.Glu239=)
c.919G= (p.Glu307=)
c.460G= (p.Glu154=)
6g.30071455C>GCA136036000RNF39c.715G>C (p.Glu239Gln)
c.919G>C (p.Glu307Gln)
c.460G>C (p.Glu154Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.30071455C>TCA363054178RNF39c.715G>A (p.Glu239Lys)
c.919G>A (p.Glu307Lys)
c.460G>A (p.Glu154Lys)
 dbSNP gnomAD v3 gnomAD v4
6g.30071456G>ACA449767563RNF39c.714C>T (p.Asp238=)
c.918C>T (p.Asp306=)
c.459C>T (p.Asp153=)
 dbSNP gnomAD v4
6g.30071456G>CCA363054179RNF39c.714C>G (p.Asp238Glu)
c.918C>G (p.Asp306Glu)
c.459C>G (p.Asp153Glu)
 gnomAD v4
6g.30071456G=CA1618576742RNF39c.714C= (p.Asp238=)
c.918C= (p.Asp306=)
c.459C= (p.Asp153=)
6g.30071456G>TCA363054180RNF39c.714C>A (p.Asp238Glu)
c.918C>A (p.Asp306Glu)
c.459C>A (p.Asp153Glu)
 dbSNP gnomAD v4
6g.30071457T>ACA363054182RNF39c.713A>T (p.Asp238Val)
c.917A>T (p.Asp306Val)
c.458A>T (p.Asp153Val)
6g.30071457T>CCA363054183RNF39c.713A>G (p.Asp238Gly)
c.917A>G (p.Asp306Gly)
c.458A>G (p.Asp153Gly)
6g.30071457T>GCA363054181RNF39c.713A>C (p.Asp238Ala)
c.917A>C (p.Asp306Ala)
c.458A>C (p.Asp153Ala)
6g.30071458C>ACA363054184RNF39c.712G>T (p.Asp238Tyr)
c.916G>T (p.Asp306Tyr)
c.457G>T (p.Asp153Tyr)
 gnomAD v4
6g.30071458C=CA1618576743RNF39c.712G= (p.Asp238=)
c.916G= (p.Asp306=)
c.457G= (p.Asp153=)
6g.30071458C>GCA363054185RNF39c.712G>C (p.Asp238His)
c.916G>C (p.Asp306His)
c.457G>C (p.Asp153His)
 gnomAD v4
6g.30071458C>TCA363054186RNF39c.712G>A (p.Asp238Asn)
c.916G>A (p.Asp306Asn)
c.457G>A (p.Asp153Asn)
 dbSNP gnomAD v2 gnomAD v4
6g.30071466_30071504delCA2677813980RNF39c.674_712del (p.Ala225_Asp237del)
c.878_916del (p.Ala293_Asp305del)
c.419_457del (p.Ala140_Asp152del)
 gnomAD v4
6g.30071459G>ACA449767567RNF39c.711C>T (p.Asp237=)
c.915C>T (p.Asp305=)
c.456C>T (p.Asp152=)
 gnomAD v4
6g.30071459G>CCA363054187RNF39c.711C>G (p.Asp237Glu)
c.915C>G (p.Asp305Glu)
c.456C>G (p.Asp152Glu)
 COSMIC COSMIC
6g.30071459G>TCA363054188RNF39c.711C>A (p.Asp237Glu)
c.915C>A (p.Asp305Glu)
c.456C>A (p.Asp152Glu)
 gnomAD v4
6g.30071460T>ACA363054191RNF39c.710A>T (p.Asp237Val)
c.914A>T (p.Asp305Val)
c.455A>T (p.Asp152Val)
6g.30071460T>CCA363054190RNF39c.710A>G (p.Asp237Gly)
c.914A>G (p.Asp305Gly)
c.455A>G (p.Asp152Gly)
 gnomAD v4
6g.30071460T>GCA363054189RNF39c.710A>C (p.Asp237Ala)
c.914A>C (p.Asp305Ala)
c.455A>C (p.Asp152Ala)
6g.30071461C>ACA363054192RNF39c.709G>T (p.Asp237Tyr)
c.913G>T (p.Asp305Tyr)
c.454G>T (p.Asp152Tyr)
 gnomAD v4
6g.30071461C=CA1618576744RNF39c.709G= (p.Asp237=)
c.913G= (p.Asp305=)
c.454G= (p.Asp152=)
6g.30071461C>GCA363054193RNF39c.709G>C (p.Asp237His)
c.913G>C (p.Asp305His)
c.454G>C (p.Asp152His)
6g.30071461C>TCA363054194RNF39c.709G>A (p.Asp237Asn)
c.913G>A (p.Asp305Asn)
c.454G>A (p.Asp152Asn)
 dbSNP gnomAD v2 gnomAD v4
6g.30071462delCA2677813981RNF39c.709del (p.Asp237ThrfsTer22)
c.709del (p.Asp237ThrfsTer?)
c.913del (p.Asp305ThrfsTer22)
c.913del (p.Asp305ThrfsTer?)
c.454del (p.Asp152ThrfsTer22)
 gnomAD v4
6g.30071462C>ACA449767573RNF39c.708G>T (p.Ala236=)
c.912G>T (p.Ala304=)
c.453G>T (p.Ala151=)
 dbSNP gnomAD v2 gnomAD v4
6g.30071462C=CA1618576745RNF39c.708G= (p.Ala236=)
c.912G= (p.Ala304=)
c.453G= (p.Ala151=)
6g.30071462C>GCA449767572RNF39c.708G>C (p.Ala236=)
c.912G>C (p.Ala304=)
c.453G>C (p.Ala151=)
 gnomAD v4
6g.30071462C>TCA449767570RNF39c.708G>A (p.Ala236=)
c.912G>A (p.Ala304=)
c.453G>A (p.Ala151=)
 gnomAD v4
6g.30071463G>ACA363054195RNF39c.707C>T (p.Ala236Val)
c.911C>T (p.Ala304Val)
c.452C>T (p.Ala151Val)
 gnomAD v4
6g.30071463G>CCA363054196RNF39c.707C>G (p.Ala236Gly)
c.911C>G (p.Ala304Gly)
c.452C>G (p.Ala151Gly)
 gnomAD v4
6g.30071463G=CA1618576746RNF39c.707C= (p.Ala236=)
c.911C= (p.Ala304=)
c.452C= (p.Ala151=)
6g.30071463G>TCA3694380RNF39c.707C>A (p.Ala236Glu)
c.911C>A (p.Ala304Glu)
c.452C>A (p.Ala151Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.30071464C>ACA363054197RNF39c.706G>T (p.Ala236Ser)
c.910G>T (p.Ala304Ser)
c.451G>T (p.Ala151Ser)
 gnomAD v4
6g.30071464C>GCA363054199RNF39c.706G>C (p.Ala236Pro)
c.910G>C (p.Ala304Pro)
c.451G>C (p.Ala151Pro)
6g.30071464C>TCA363054198RNF39c.706G>A (p.Ala236Thr)
c.910G>A (p.Ala304Thr)
c.451G>A (p.Ala151Thr)
 gnomAD v4
6g.30071465A>CCA363054200RNF39c.705T>G (p.Asp235Glu)
c.909T>G (p.Asp303Glu)
c.450T>G (p.Asp150Glu)
6g.30071465A>GCA449767574RNF39c.705T>C (p.Asp235=)
c.909T>C (p.Asp303=)
c.450T>C (p.Asp150=)
 gnomAD v4
6g.30071465A>TCA363054201RNF39c.705T>A (p.Asp235Glu)
c.909T>A (p.Asp303Glu)
c.450T>A (p.Asp150Glu)

Number of alleles fetched